#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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_method	validation_status	validation_tumor_sample
UGT1A9	54600	broad.mit.edu	37	2	234581137	234581137	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234581137C>A	ENST00000354728.4	+	1	639	c.557C>A	c.(556-558)cCt>cAt	p.P186H	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.P186H			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	186					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGCCCTGCTCCTCTTTCCTAT	0.473																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(556-558)cCt>cAt									161.0	166.0	165.0					2																	234581137		2203	4300	6503	SO:0001583	missense	0							g.chr2:234581137C>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.557C>A	2.37:g.234581137C>A	ENSP00000346768:p.Pro186His					UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	p.P186H	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	639	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.557C>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984957	0.74474	.	.	ENSG00000241119	ENST00000354728	T	0.62788	-0.0	3.41	2.51	0.30379	.	.	.	.	.	D	0.82774	0.5110	H	0.94698	3.57	0.29931	N	0.821864	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.79349	-0.1840	9	0.87932	D	0	.	11.2764	0.49170	0.0:0.9061:0.0:0.0939	.	186;186	Q5DSZ5;O60656	.;UD19_HUMAN	H	186	ENSP00000346768:P186H	ENSP00000346768:P186H	P	+	2	0	UGT1A9	234245876	0.991000	0.36638	0.005000	0.12908	0.544000	0.35116	4.628000	0.61282	0.737000	0.32582	0.440000	0.28878	CCT		0.473	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		7	166	1	0	1.06961e-07	1	1.12439e-07	7	166				
TRABD	80305	broad.mit.edu	37	22	50635672	50635672	+	Silent	SNP	C	C	T	rs144093601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50635672C>T	ENST00000303434.4	+	6	542	c.423C>T	c.(421-423)aaC>aaT	p.N141N	TRABD_ENST00000395827.1_Silent_p.N141N|TRABD_ENST00000395829.1_Silent_p.N141N|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Silent_p.N141N	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	141										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CTCTGCAGAACGGGCTCATGT	0.662																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(421-423)aaC>aaT		TraB domain containing							52.0	54.0	53.0					22																	50635672		2203	4299	6502	SO:0001819	synonymous_variant	80305							g.chr22:50635672C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.423C>T	22.37:g.50635672C>T						TRABD_ENST00000395829.1_Silent_p.N141N|TRABD_ENST00000380909.4_Silent_p.N141N|TRABD_ENST00000395827.1_Silent_p.N141N	p.N141N	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	6	542	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	141					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.423C>T	CCDS14086.1																																																																																				0.662	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		18	22	0	0	0	1	0	18	22				
PBRM1	55193	broad.mit.edu	37	3	52668639	52668639	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52668639G>A	ENST00000296302.7	-	11	1281	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	PBRM1_ENST00000409057.1_Missense_Mutation_p.P427L|PBRM1_ENST00000356770.4_Missense_Mutation_p.P395L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P427L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P427L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P427L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P427L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P427L			Q86U86	PB1_HUMAN	polybromo 1	427	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGTGATATGGGCATTTTAAT	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1183-1185)cCc>cTc		polybromo 1							163.0	184.0	177.0					3																	52668639		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52668639G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1280C>T	3.37:g.52668639G>A	ENSP00000296302:p.Pro427Leu					PBRM1_ENST00000409767.1_Missense_Mutation_p.P427L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P427L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P427L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P427L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P427L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P427L|PBRM1_ENST00000296302.7_Missense_Mutation_p.P427L	p.P395L			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1186	-			427					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1184C>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.861601	0.91433	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.59	5.59	0.84812	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91663	0.7365	H	0.99074	4.42	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.94914	0.8067	10	0.87932	D	0	-1.3911	19.5707	0.95413	0.0:0.0:1.0:0.0	.	427;427;427;427;427;427;427;395;427	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	L	395;427;427;427;427;427;427;427;427;371	ENSP00000349213:P395L;ENSP00000378307:P427L;ENSP00000296302:P427L;ENSP00000338302:P427L;ENSP00000386593:P427L;ENSP00000386529:P427L;ENSP00000386643:P427L;ENSP00000386601:P427L;ENSP00000387775:P427L;ENSP00000397662:P371L	ENSP00000296302:P427L	P	-	2	0	PBRM1	52643679	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.397000	0.97276	2.630000	0.89119	0.491000	0.48974	CCC		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		22	41	0	0	0	1	0	22	41				
VPS28	51160	broad.mit.edu	37	8	145651576	145651576	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145651576G>A	ENST00000526054.1	-	2	90	c.53C>T	c.(52-54)cCg>cTg	p.P18L	VPS28_ENST00000292510.4_Missense_Mutation_p.P18L|VPS28_ENST00000377348.2_Missense_Mutation_p.P18L|VPS28_ENST00000529182.1_Missense_Mutation_p.P18L|VPS28_ENST00000526734.1_5'UTR			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	18	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ATACAGCTCCGGCTTGTTCCC	0.627																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(52-54)cCg>cTg		vacuolar protein sorting 28 homolog (S. cerevisiae)							22.0	21.0	21.0					8																	145651576		2193	4297	6490	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145651576G>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.53C>T	8.37:g.145651576G>A	ENSP00000434064:p.Pro18Leu					VPS28_ENST00000529182.1_Missense_Mutation_p.P18L|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.P18L|VPS28_ENST00000292510.4_Missense_Mutation_p.P18L	p.P18L	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	142	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		18			VPS28 N-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.53C>T	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.801599	0.90538	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032;ENST00000530790	.	.	.	5.09	5.09	0.68999	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.56340	1.77	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.62184	0.899;0.864	T	0.67764	-0.5586	9	0.26408	T	0.33	.	16.3554	0.83234	0.0:0.0:1.0:0.0	.	18;18	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	L	18	.	ENSP00000292510:P18L	P	-	2	0	VPS28	145622384	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	5.949000	0.70257	2.515000	0.84797	0.650000	0.86243	CCG		0.627	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			6	2	0	0	0	1	0	6	2				
POGZ	23126	broad.mit.edu	37	1	151396613	151396613	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396613T>C	ENST00000271715.2	-	9	1649	c.1335A>G	c.(1333-1335)tcA>tcG	p.S445S	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.S383S|POGZ_ENST00000392723.1_Silent_p.S392S|POGZ_ENST00000368863.2_Silent_p.S350S|POGZ_ENST00000409503.1_Silent_p.S436S|POGZ_ENST00000361398.3_Silent_p.S392S|POGZ_ENST00000491586.1_Silent_p.S392S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	445					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTAGGCGGTGACAGAGCAG	0.512																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1333-1335)tcA>tcG		pogo transposable element with ZNF domain							214.0	209.0	210.0					1																	151396613		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396613T>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1335A>G	1.37:g.151396613T>C						POGZ_ENST00000368863.2_Silent_p.S350S|POGZ_ENST00000361398.3_Silent_p.S392S|POGZ_ENST00000392723.1_Silent_p.S392S|POGZ_ENST00000409503.1_Silent_p.S436S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.S392S|POGZ_ENST00000531094.1_Silent_p.S383S	p.S445S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1649	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		445					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1335A>G	CCDS997.1																																																																																				0.512	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		32	60	0	0	0	1	0	32	60				
KIAA1324L	222223	broad.mit.edu	37	7	86541553	86541553	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86541553C>T	ENST00000450689.2	-	15	2189	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	KIAA1324L_ENST00000416314.1_Silent_p.S501S|KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000297222.6_Silent_p.S428S|KIAA1324L_ENST00000444627.1_Intron	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	668						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATAGCAAACCGAATGGTCCT	0.338																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2002-2004)tcG>tcA		KIAA1324-like							86.0	90.0	89.0					7																	86541553		2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86541553C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2004G>A	7.37:g.86541553C>T						KIAA1324L_ENST00000416314.1_Silent_p.S501S|KIAA1324L_ENST00000297222.6_Silent_p.S428S|KIAA1324L_ENST00000444627.1_Intron	p.S668S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			15	2189	-	Esophageal squamous(14;0.0058)		668					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.2004G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300502	0.10678	.	.	ENSG00000164659	ENST00000423294	.	.	.	6.02	-8.99	0.00751	.	.	.	.	.	T	0.34803	0.0910	.	.	.	0.39134	D	0.961905	.	.	.	.	.	.	T	0.41052	-0.9530	4	.	.	.	.	2.919	0.05762	0.2258:0.3731:0.2547:0.1464	.	.	.	.	S	629	.	.	G	-	1	0	KIAA1324L	86379489	0.004000	0.15560	0.245000	0.24217	0.833000	0.47200	-0.292000	0.08332	-1.572000	0.01661	-0.781000	0.03364	GGT		0.338	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		44	89	0	0	0	1	0	44	89				
KIF1A	547	broad.mit.edu	37	2	241683366	241683366	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241683366C>T	ENST00000320389.7	-	31	3432	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1193M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1092					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACCTGAGCACGTCCTTGCAG	0.587																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3577-3579)Gtg>Atg		kinesin family member 1A							91.0	101.0	98.0					2																	241683366		1973	4138	6111	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241683366C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3274G>A	2.37:g.241683366C>T	ENSP00000322791:p.Val1092Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1092M	p.V1193M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	33	3823	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1092					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.3577G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055160	0.19907	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.78;-0.78;-0.78	4.91	4.91	0.64330	.	0.151430	0.42682	U	0.000670	T	0.58148	0.2102	N	0.11427	0.14	0.37630	D	0.921644	D;D;B	0.59357	0.966;0.985;0.443	B;B;B	0.40901	0.187;0.343;0.02	T	0.67138	-0.5746	10	0.37606	T	0.19	.	18.0948	0.89485	0.0:1.0:0.0:0.0	.	1193;1193;1092	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	1092;1193;1193;1193	ENSP00000322791:V1092M;ENSP00000438388:V1193M;ENSP00000384231:V1193M	ENSP00000322791:V1092M	V	-	1	0	KIF1A	241332039	0.729000	0.28090	0.989000	0.46669	0.006000	0.05464	1.152000	0.31663	2.270000	0.75569	0.591000	0.81541	GTG		0.587	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		21	36	0	0	0	1	0	21	36				
SOX14	8403	broad.mit.edu	37	3	137483730	137483730	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137483730A>G	ENST00000306087.1	+	1	152	c.104A>G	c.(103-105)aAc>aGc	p.N35S		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	35					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						AAGATGCACAACTCGGAGATC	0.592																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(103-105)aAc>aGc		SRY (sex determining region Y)-box 14							98.0	95.0	96.0					3																	137483730		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483730A>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.104A>G	3.37:g.137483730A>G	ENSP00000305343:p.Asn35Ser						p.N35S	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	152	+			35					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.104A>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898972	0.72754	.	.	ENSG00000168875	ENST00000306087	D	0.98150	-4.75	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.99331	1.0909	10	0.87932	D	0	.	14.6813	0.69020	1.0:0.0:0.0:0.0	.	35	O95416	SOX14_HUMAN	S	35	ENSP00000305343:N35S	ENSP00000305343:N35S	N	+	2	0	SOX14	138966420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.117000	0.94347	2.142000	0.66516	0.418000	0.28097	AAC		0.592	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		6	6	0	0	0	1	0	6	6				
NOL12	79159	broad.mit.edu	37	22	38084897	38084897	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38084897G>A	ENST00000359114.4	+	4	349	c.279G>A	c.(277-279)acG>acA	p.T93T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	93						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)	p.T93T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGCAAAGACGGAGTCGGTGC	0.637																																						ENST00000359114.4																			1	Substitution - coding silent(1)	p.T93T(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(277-279)acG>acA		nucleolar protein 12							192.0	162.0	172.0					22																	38084897		2203	4300	6503	SO:0001819	synonymous_variant	79159					nucleolus	rRNA binding	g.chr22:38084897G>A	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.279G>A	22.37:g.38084897G>A						RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR	p.T93T	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			4	349	+	Melanoma(58;0.0574)		93						Silent	SNP	ENST00000359114.4	37	c.279G>A	CCDS13955.1																																																																																				0.637	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		35	49	0	0	0	1	0	35	49				
TK2	7084	broad.mit.edu	37	16	66584027	66584027	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66584027C>T	ENST00000451102.2	-	0	288				CKLF_ENST00000264001.4_5'Flank|CKLF_ENST00000351137.4_5'Flank|CKLF_ENST00000417030.2_5'Flank|TK2_ENST00000544898.1_5'UTR|TK2_ENST00000299697.7_Missense_Mutation_p.A22T|CKLF_ENST00000345436.4_5'Flank|TK2_ENST00000417693.3_5'UTR|TK2_ENST00000527800.1_5'Flank|TK2_ENST00000564917.1_5'Flank|TK2_ENST00000545043.2_5'Flank|TK2_ENST00000563369.2_5'Flank|CKLF_ENST00000362093.4_5'Flank|CKLF-CMTM1_ENST00000527729.1_5'Flank|TK2_ENST00000527284.1_Intron|CKLF-CMTM1_ENST00000532838.1_5'Flank|TK2_ENST00000525974.1_5'Flank|Y_RNA_ENST00000563151.1_lincRNA			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CGGACGACTGCTAGTCCAGCC	0.677																																						ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(64-66)Gca>Aca		thymidine kinase 2, mitochondrial							9.0	13.0	12.0					16																	66584027		2127	4199	6326	SO:0001623	5_prime_UTR_variant	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66584027C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.-63G>A	16.37:g.66584027C>T						TK2_ENST00000544898.1_5'UTR|Y_RNA_ENST00000563151.1_lincRNA|TK2_ENST00000527284.1_Intron|TK2_ENST00000417693.3_5'UTR|TK2_ENST00000451102.2_5'UTR	p.A22T	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	1	288	-		Ovarian(137;0.0563)	0					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	c.64G>A	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558864	0.65538	.	.	ENSG00000166548	ENST00000299697	D	0.98996	-5.31	2.32	2.32	0.28847	.	2.339010	0.02438	N	0.084223	D	0.97235	0.9096	.	.	.	0.30783	N	0.741795	B;B	0.31893	0.345;0.345	B;B	0.31614	0.133;0.098	D	0.94991	0.8134	9	0.54805	T	0.06	.	8.2065	0.31458	0.0:1.0:0.0:0.0	.	22;22	Q8IZR3;E5KNQ5	.;.	T	22	ENSP00000299697:A22T	ENSP00000299697:A22T	A	-	1	0	TK2	65141528	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.819000	0.27308	1.588000	0.49971	0.491000	0.48974	GCA		0.677	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			3	6	0	0	0	1	0	3	6				
MYEOV2	150678	broad.mit.edu	37	2	241069404	241069404	+	IGR	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241069404A>G	ENST00000607357.1	-	0	418				MYEOV2_ENST00000307266.3_Missense_Mutation_p.V102A|MYEOV2_ENST00000489698.1_5'Flank	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CAGTGCGGGAACCATGGAGGA	0.602																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(304-306)gTt>gCt		myeloma overexpressed 2							68.0	53.0	58.0					2																	241069404		2203	4300	6503	SO:0001628	intergenic_variant	150678							g.chr2:241069404A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352		2.37:g.241069404A>G							p.V102A	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	4	304	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.305T>C		.	.	.	.	.	.	.	.	.	.	A	2.062	-0.415158	0.04766	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.56	-3.13	0.05266	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14172	-1.0482	7	0.87932	D	0	.	4.7067	0.12853	0.2312:0.4441:0.3247:0.0	.	102	Q8WXC6-1	.	A	102	.	ENSP00000304147:V102A	V	-	2	0	MYEOV2	240718077	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.336000	0.07863	-1.885000	0.01118	-0.496000	0.04628	GTT		0.602	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		9	17	0	0	0	1	0	9	17				
TICAM2	353376	broad.mit.edu	37	5	114916761	114916761	+	Missense_Mutation	SNP	C	C	T	rs371836337		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114916761C>T	ENST00000427199.2	-	2	634	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.V234M|TICAM2_ENST00000513729.1_5'Flank|TICAM2_ENST00000408996.4_Missense_Mutation_p.V234M	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	65					cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		ATCTCTTCCACGCTCTGAGCT	0.458																																						ENST00000408996.4																			0				cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5						c.(700-702)Gtg>Atg		toll-like receptor adaptor molecule 2		C	MET/VAL,,MET/VAL	0,4404		0,0,2202	295.0	299.0	298.0		700,,193	-7.2	0.0	5		298	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,missense	TICAM2,TMED7-TICAM2	NM_001164468.2,NM_001164469.2,NM_021649.6	21,,21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	234/405,,65/236	114916761	1,13003	2202	4300	6502	SO:0001583	missense	353376							g.chr5:114916761C>T	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.193G>A	5.37:g.114916761C>T	ENSP00000415139:p.Val65Met					TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.V234M|TICAM2_ENST00000427199.2_Missense_Mutation_p.V65M	p.V234M	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1				OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)	4	1086	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.700G>A	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091359	0.20471	0.0	1.16E-4	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T	0.23950	1.88;1.88	5.69	-7.19	0.01500	.	2.460800	0.01683	N	0.026259	T	0.15305	0.0369	N	0.19112	0.55	0.09310	N	1	B;B	0.16396	0.003;0.017	B;B	0.08055	0.001;0.003	T	0.16571	-1.0398	10	0.46703	T	0.11	.	7.6337	0.28253	0.0:0.2344:0.3873:0.3783	.	234;65	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	M	234;65;234	ENSP00000386341:V234M;ENSP00000282382:V234M	ENSP00000415139:V65M	V	-	1	0	TICAM2;TMED7-TICAM2	114944660	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.629000	0.02029	-2.237000	0.00712	-0.998000	0.02512	GTG		0.458	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		69	128	0	0	0	1	0	69	128				
ZNF609	23060	broad.mit.edu	37	15	64970399	64970399	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64970399C>T	ENST00000326648.3	+	5	3615	c.3487C>T	c.(3487-3489)Cgg>Tgg	p.R1163W		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGGAGGAGCGGGACCGCAA	0.527																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3487-3489)Cgg>Tgg		zinc finger protein 609							72.0	58.0	63.0					15																	64970399		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64970399C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3487C>T	15.37:g.64970399C>T	ENSP00000316527:p.Arg1163Trp						p.R1163W	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			5	3615	+			1163					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.3487C>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152485	0.78001	.	.	ENSG00000180357	ENST00000326648	T	0.54479	0.57	5.44	5.44	0.79542	.	0.055458	0.64402	D	0.000001	T	0.68769	0.3037	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71337	-0.4623	10	0.87932	D	0	-11.1133	13.4309	0.61055	0.2763:0.7237:0.0:0.0	.	1163	O15014	ZN609_HUMAN	W	1163	ENSP00000316527:R1163W	ENSP00000316527:R1163W	R	+	1	2	ZNF609	62757452	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.472000	0.35376	2.537000	0.85549	0.650000	0.86243	CGG		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		10	24	0	0	0	1	0	10	24				
UBIAD1	29914	broad.mit.edu	37	1	11345737	11345737	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11345737T>C	ENST00000376810.5	+	2	892	c.566T>C	c.(565-567)aTc>aCc	p.I189T	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	189					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGACCTCATCATCCTCATC	0.562																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(565-567)aTc>aCc		UbiA prenyltransferase domain containing 1							124.0	103.0	110.0					1																	11345737		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345737T>C		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.566T>C	1.37:g.11345737T>C	ENSP00000366006:p.Ile189Thr					UBIAD1_ENST00000376804.2_Intron	p.I189T	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	892	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	189					B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.566T>C	CCDS129.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524136	0.27299	.	.	ENSG00000120942	ENST00000376810	D	0.92752	-3.1	5.54	5.54	0.83059	.	0.116434	0.56097	D	0.000021	T	0.78698	0.4324	N	0.01188	-0.97	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.74808	-0.3539	10	0.27785	T	0.31	0.0	13.4155	0.60966	0.0:0.0:0.0:1.0	.	189	Q9Y5Z9	UBIA1_HUMAN	T	189	ENSP00000366006:I189T	ENSP00000366006:I189T	I	+	2	0	UBIAD1	11268324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.094000	0.63399	0.402000	0.26972	ATC		0.562	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		10	18	0	0	0	1	0	10	18				
PRKAR2A	5576	broad.mit.edu	37	3	48820520	48820520	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48820520C>A	ENST00000265563.8	-	5	690	c.441G>T	c.(439-441)caG>caT	p.Q147H	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q147H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q147H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	147					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTTGAGAAAGCTGTTCCTGCA	0.373																																						ENST00000265563.8																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(439-441)caG>caT		protein kinase, cAMP-dependent, regulatory, type II, alpha							141.0	120.0	127.0					3																	48820520		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48820520C>A		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.441G>T	3.37:g.48820520C>A	ENSP00000265563:p.Gln147His					PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Q147H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Q147H	p.Q147H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	5	690	-			147					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.441G>T	CCDS2778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.129583|3.129583	0.56721|0.56721	.|.	.|.	ENSG00000114302|ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446|ENST00000437821	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	4.51|4.51	0.47|0.47	0.16747|0.16747	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.171136|.	0.39407|.	N|.	0.001369|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.71414|.	0.957;0.973|.	T|T	0.69665|0.69665	-0.5084|-0.5084	10|5	0.72032|.	D|.	0.01|.	-2.824|-2.824	11.5959|11.5959	0.50972|0.50972	0.0:0.7188:0.0:0.2812|0.0:0.7188:0.0:0.2812	.|.	147;147|.	Q9BUB1;P13861|.	.;KAP2_HUMAN|.	H|I	147|36	ENSP00000265563:Q147H;ENSP00000394041:Q147H;ENSP00000296446:Q147H|.	ENSP00000265563:Q147H|.	Q|S	-|-	3|2	2|0	PRKAR2A|PRKAR2A	48795524|48795524	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.923000|0.923000	0.55619|0.55619	1.421000|1.421000	0.34815|0.34815	-0.252000|-0.252000	0.09528|0.09528	-0.797000|-0.797000	0.03246|0.03246	CAG|AGC		0.373	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			23	27	1	0	2.21704e-12	1	2.3975e-12	23	27				
TCF4	6925	broad.mit.edu	37	18	52899844	52899844	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:52899844G>A	ENST00000356073.4	-	17	2156	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	TCF4_ENST00000570287.2_Silent_p.S355S|TCF4_ENST00000570177.2_Silent_p.S385S|TCF4_ENST00000566279.1_Silent_p.S455S|TCF4_ENST00000566286.1_Silent_p.S512S|TCF4_ENST00000564403.2_Silent_p.S521S|TCF4_ENST00000398339.1_Silent_p.S617S|TCF4_ENST00000561992.1_Silent_p.S385S|TCF4_ENST00000543082.1_Silent_p.S473S|TCF4_ENST00000567880.1_Silent_p.S455S|TCF4_ENST00000537578.1_Silent_p.S491S|TCF4_ENST00000354452.3_Silent_p.S515S|TCF4_ENST00000568673.1_Silent_p.S491S|TCF4_ENST00000564228.1_Silent_p.S444S|TCF4_ENST00000564999.1_Silent_p.S515S|TCF4_ENST00000457482.3_Silent_p.S355S|TCF4_ENST00000544241.2_Silent_p.S444S|TCF4_ENST00000561831.3_Silent_p.S355S|TCF4_ENST00000537856.3_Silent_p.S385S|TCF4_ENST00000565018.2_Silent_p.S515S|TCF4_ENST00000568740.1_Silent_p.S490S|TCF4_ENST00000540999.1_Silent_p.S491S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	515					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCTCGTCATCGGATTTGATCT	0.463																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1543-1545)tcC>tcT		transcription factor 4							117.0	102.0	107.0					18																	52899844		2203	4300	6503	SO:0001819	synonymous_variant	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899844G>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1545C>T	18.37:g.52899844G>A						TCF4_ENST00000561831.3_Silent_p.S355S|TCF4_ENST00000537578.1_Silent_p.S491S|TCF4_ENST00000561992.1_Silent_p.S385S|TCF4_ENST00000568740.1_Silent_p.S490S|TCF4_ENST00000570287.2_Silent_p.S355S|TCF4_ENST00000537856.3_Silent_p.S385S|TCF4_ENST00000568673.1_Silent_p.S491S|TCF4_ENST00000567880.1_Silent_p.S455S|TCF4_ENST00000565018.2_Silent_p.S515S|TCF4_ENST00000566279.1_Silent_p.S455S|TCF4_ENST00000564228.1_Silent_p.S444S|TCF4_ENST00000564999.1_Silent_p.S515S|TCF4_ENST00000544241.2_Silent_p.S444S|TCF4_ENST00000543082.1_Silent_p.S473S|TCF4_ENST00000540999.1_Silent_p.S491S|TCF4_ENST00000398339.1_Silent_p.S617S|TCF4_ENST00000570177.2_Silent_p.S385S|TCF4_ENST00000566286.1_Silent_p.S512S|TCF4_ENST00000356073.4_Silent_p.S515S|TCF4_ENST00000457482.3_Silent_p.S355S|TCF4_ENST00000564403.2_Silent_p.S521S	p.S515S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2156	-			515					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	c.1545C>T	CCDS11960.1																																																																																				0.463	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		20	35	0	0	0	1	0	20	35				
FMOD	2331	broad.mit.edu	37	1	203311497	203311497	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203311497G>A	ENST00000354955.4	-	3	1568	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	369					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGCAAGGCGCAGGCAGAGG	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1105-1107)Cgc>Tgc		fibromodulin							33.0	35.0	34.0					1																	203311497		2203	4297	6500	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203311497G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1105C>T	1.37:g.203311497G>A	ENSP00000347041:p.Arg369Cys		OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2136	FMOD_ENST00000464898.1_5'UTR	p.R369C	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		3	1568	-			369					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.1105C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210027	0.79240	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.60171	0.21	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.83774	2.66	0.80722	D	1	B	0.22683	0.073	B	0.14578	0.011	T	0.65442	-0.6167	10	0.72032	D	0.01	-16.0117	17.7395	0.88404	0.0:0.0:1.0:0.0	.	369	Q06828	FMOD_HUMAN	C	356;369	ENSP00000347041:R369C	ENSP00000347041:R369C	R	-	1	0	FMOD	201578120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.437000	0.80417	2.521000	0.84997	0.563000	0.77884	CGC		0.642	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		6	16	0	0	0	1	0	6	16				
UTRN	7402	broad.mit.edu	37	6	144999598	144999598	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144999598C>T	ENST00000367545.3	+	51	7536	c.7536C>T	c.(7534-7536)aaC>aaT	p.N2512N	UTRN_ENST00000367526.4_Silent_p.N67N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2512					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGACGGAAACAGGCAGAAGA	0.373																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7534-7536)aaC>aaT		utrophin							84.0	79.0	81.0					6																	144999598		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144999598C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7536C>T	6.37:g.144999598C>T						UTRN_ENST00000367526.4_Silent_p.N67N	p.N2512N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	51	7536	+		Ovarian(120;0.218)	2512					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.7536C>T	CCDS34547.1																																																																																				0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			21	45	0	0	0	1	0	21	45				
FBLL1	345630	broad.mit.edu	37	5	167957368	167957368	+	Missense_Mutation	SNP	G	G	A	rs371830082		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167957368G>A	ENST00000338333.4	+	1	1248	c.859G>A	c.(859-861)Gcc>Acc	p.A287T				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	287					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										CACCGCATCCGCCGAGGCTGT	0.602																																						ENST00000338333.4																			0											c.(859-861)Gcc>Acc				G		1,1751		0,1,875	33.0	31.0	32.0			2.2	0.0	5		32	1,3981		0,1,1990	no	intergenic				0,2,2865	AA,AG,GG		0.0251,0.0571,0.0349			167957368	2,5732	876	1991	2867	SO:0001583	missense	0							g.chr5:167957368G>A			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.859G>A	5.37:g.167957368G>A	ENSP00000473383:p.Ala287Thr						p.A287T							1	1248	+									Missense_Mutation	SNP	ENST00000338333.4	37	c.859G>A																																																																																					0.602	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		11	9	0	0	0	1	0	11	9				
TENC1	23371	broad.mit.edu	37	12	53453257	53453257	+	Missense_Mutation	SNP	G	G	A	rs541818683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53453257G>A	ENST00000314250.6	+	18	2122	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	TENC1_ENST00000451358.1_Missense_Mutation_p.R611Q|TENC1_ENST00000379902.3_Missense_Mutation_p.R487Q|TENC1_ENST00000552570.1_Missense_Mutation_p.R611Q|TENC1_ENST00000549700.1_Missense_Mutation_p.R611Q|TENC1_ENST00000314276.3_Missense_Mutation_p.R621Q|TENC1_ENST00000546602.1_Missense_Mutation_p.R611Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	611					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCTACTACCGGCCAGAGGGA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14726	0.0		0.0	False		,,,				2504	0.001					ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1831-1833)cGg>cAg		tensin like C1 domain containing phosphatase (tensin 2)							6.0	7.0	7.0					12																	53453257		2075	4165	6240	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53453257G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1832G>A	12.37:g.53453257G>A	ENSP00000319684:p.Arg611Gln					TENC1_ENST00000451358.1_Missense_Mutation_p.R611Q|TENC1_ENST00000546602.1_Missense_Mutation_p.R611Q|TENC1_ENST00000549700.1_Missense_Mutation_p.R611Q|TENC1_ENST00000552570.1_Missense_Mutation_p.R611Q|TENC1_ENST00000379902.3_Missense_Mutation_p.R487Q|TENC1_ENST00000314276.3_Missense_Mutation_p.R621Q	p.R611Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	2122	+			611					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1832G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554205	0.45487	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94330	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.4	4.35	3.46	0.39613	.	0.248892	0.31221	N	0.008021	D	0.84056	0.5388	N	0.08118	0	0.33873	D	0.635155	B;B;B;B	0.18461	0.003;0.003;0.016;0.028	B;B;B;B	0.10450	0.003;0.003;0.002;0.005	T	0.83351	-0.0003	10	0.48119	T	0.1	.	10.3088	0.43695	0.0982:0.0:0.9018:0.0	.	611;611;611;621	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	Q	487;621;611;611;611;611;611;611	ENSP00000369232:R487Q;ENSP00000319756:R621Q;ENSP00000319684:R611Q;ENSP00000393362:R611Q;ENSP00000449363:R611Q;ENSP00000447021:R611Q;ENSP00000449361:R611Q	ENSP00000319684:R611Q	R	+	2	0	TENC1	51739524	0.556000	0.26538	0.997000	0.53966	0.980000	0.70556	1.796000	0.38794	1.200000	0.43188	0.462000	0.41574	CGG		0.692	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		3	2	0	0	0	1	0	3	2				
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T	rs201820044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468																																						ENST00000301665.3																			0				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10						c.(313-315)tCg>tTg		transmembrane protein 99		G	LEU/SER,LEU/SER,LEU/SER	0,3862		0,0,1931	158.0	156.0	157.0		314,314,314	-0.5	0.0	17		157	1,8287		0,1,4143	yes	missense,missense,missense	TMEM99	NM_001195386.1,NM_001195387.1,NM_145274.3	145,145,145	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign	105/259,105/259,105/259	38991082	1,12149	1931	4144	6075	SO:0001583	missense	147184					integral to membrane		g.chr17:38991082C>T	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.314C>T	17.37:g.38991082C>T	ENSP00000301665:p.Ser105Leu						p.S105L	NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN			3	618	+		Breast(137;0.000301)	105					B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	c.314C>T	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759521	0.15846	0.0	1.21E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.235	-0.47	0.12131	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	8	0.87932	D	0	.	.	.	.	.	105	Q8N816	TMM99_HUMAN	L	105	ENSP00000390036:S105L;ENSP00000301665:S105L	ENSP00000301665:S105L	S	+	2	0	TMEM99	36244608	0.005000	0.15991	0.003000	0.11579	0.003000	0.03518	-1.587000	0.02108	-1.775000	0.01287	-1.751000	0.00678	TCG		0.468	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		50	68	0	0	0	1	0	50	68				
CBLB	868	broad.mit.edu	37	3	105422838	105422838	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105422838T>C	ENST00000264122.4	-	11	1908	c.1587A>G	c.(1585-1587)tcA>tcG	p.S529S	CBLB_ENST00000394027.3_Silent_p.S551S|CBLB_ENST00000405772.1_Silent_p.S529S|CBLB_ENST00000403724.1_Silent_p.S529S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	529	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTACCTTTGGTGAACCCGTTG	0.403			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1585-1587)tcA>tcG		Cbl proto-oncogene B, E3 ubiquitin protein ligase							82.0	87.0	85.0					3																	105422838		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105422838T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1587A>G	3.37:g.105422838T>C						CBLB_ENST00000405772.1_Silent_p.S529S|CBLB_ENST00000403724.1_Silent_p.S529S|CBLB_ENST00000394027.3_Silent_p.S551S	p.S529S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			11	1908	-			529			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1587A>G	CCDS2948.1																																																																																				0.403	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		5	30	0	0	0	1	0	5	30				
TOX2	84969	broad.mit.edu	37	20	42635356	42635356	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42635356C>T	ENST00000358131.5	+	3	570	c.362C>T	c.(361-363)gCc>gTc	p.A121V	TOX2_ENST00000341197.4_Missense_Mutation_p.A112V|TOX2_ENST00000372999.1_Missense_Mutation_p.A70V|TOX2_ENST00000423191.2_Missense_Mutation_p.A70V|RN7SL443P_ENST00000464331.2_RNA	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	121					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTATCAGGCCATGGACCTC	0.647																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(361-363)gCc>gTc		TOX high mobility group box family member 2							99.0	74.0	83.0					20																	42635356		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635356C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.362C>T	20.37:g.42635356C>T	ENSP00000350849:p.Ala121Val					TOX2_ENST00000423191.1_Missense_Mutation_p.A70V|TOX2_ENST00000372999.1_Missense_Mutation_p.A70V|TOX2_ENST00000341197.3_Missense_Mutation_p.A112V	p.A121V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	570	+		Myeloproliferative disorder(115;0.00452)	121					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.362C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297860	0.60086	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.24	3.09	0.35607	.	0.328094	0.28072	N	0.016711	T	0.34832	0.0911	N	0.22421	0.69	0.80722	D	1	P;D;P;P	0.61697	0.867;0.99;0.791;0.791	P;P;B;B	0.51701	0.542;0.677;0.138;0.34	T	0.10847	-1.0612	10	0.52906	T	0.07	.	6.9353	0.24463	0.3814:0.4878:0.1308:0.0	.	112;70;121;70	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	V	112;70;70;70;121	ENSP00000344724:A112V;ENSP00000396584:A70V;ENSP00000390278:A70V;ENSP00000362090:A70V;ENSP00000350849:A121V	ENSP00000344724:A112V	A	+	2	0	TOX2	42068770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	1.162000	0.42619	0.655000	0.94253	GCC		0.647	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			12	16	0	0	0	1	0	12	16				
ZNF208	7757	broad.mit.edu	37	19	22154228	22154228	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22154228C>T	ENST00000397126.4	-	4	3756	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAGGCTTTGCCACATTCTTC	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3607-3609)gGc>gAc		zinc finger protein 208							34.0	36.0	36.0					19																	22154228		2115	4241	6356	SO:0001583	missense	7757							g.chr19:22154228C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3608G>A	19.37:g.22154228C>T	ENSP00000380315:p.Gly1203Asp					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.G1203D	NM_007153.3	NP_009084.2					4	3756	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3608G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754451	0.49362	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.20069	2.1	2.92	-0.641	0.11490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22126	0.0533	.	.	.	0.23510	N	0.997525	P	0.48503	0.911	P	0.48368	0.575	T	0.14727	-1.0462	8	0.52906	T	0.07	.	6.8991	0.24273	0.0:0.649:0.0:0.351	.	1075	O43345	ZN208_HUMAN	D	1203;1075	ENSP00000380315:G1203D	ENSP00000380315:G1203D	G	-	2	0	ZNF208	21946068	0.015000	0.18098	0.000000	0.03702	0.018000	0.09664	0.482000	0.22276	-0.128000	0.11641	0.196000	0.17591	GGC		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		22	50	0	0	0	1	0	22	50				
WDR90	197335	broad.mit.edu	37	16	703426	703426	+	Missense_Mutation	SNP	G	G	A	rs374428893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:703426G>A	ENST00000293879.4	+	11	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	WDR90_ENST00000549091.1_Missense_Mutation_p.R403H|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	403										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGGAGCAGCGCTTCTTCCTT	0.682																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1207-1209)cGc>cAc		WD repeat domain 90		G	HIS/ARG	2,4190		0,2,2094	43.0	53.0	50.0		1208	4.8	0.9	16		50	0,8406		0,0,4203	no	missense	WDR90	NM_145294.4	29	0,2,6297	AA,AG,GG		0.0,0.0477,0.0159	probably-damaging	403/1749	703426	2,12596	2096	4203	6299	SO:0001583	missense	197335							g.chr16:703426G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1208G>A	16.37:g.703426G>A	ENSP00000293879:p.Arg403His					WDR90_ENST00000293879.4_Missense_Mutation_p.R403H	p.R403H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			11	1300	+		Hepatocellular(780;0.0218)	403					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1208G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275590	0.80580	4.77E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01379	4.96;4.96	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000012	T	0.08582	0.0213	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.958	P;D;B	0.65987	0.572;0.94;0.242	T	0.03008	-1.1083	10	0.52906	T	0.07	.	16.8626	0.86021	0.0:0.0:1.0:0.0	.	403;404;403	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	H	403	ENSP00000448122:R403H;ENSP00000293879:R403H	ENSP00000293879:R403H	R	+	2	0	WDR90	643427	1.000000	0.71417	0.919000	0.36401	0.262000	0.26303	6.152000	0.71812	2.216000	0.71823	0.561000	0.74099	CGC		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		11	21	0	0	0	1	0	11	21				
TCIRG1	10312	broad.mit.edu	37	11	67815372	67815372	+	Missense_Mutation	SNP	C	C	T	rs141474168	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67815372C>T	ENST00000265686.3	+	13	1595	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.T280M|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	496					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GCCCAGCACACGATGCTTACC	0.682													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17471	0.0		0.0	False		,,,				2504	0.0					ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1486-1488)aCg>aTg		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3		C	MET/THR,MET/THR	7,4391	12.9+/-30.5	0,7,2192	116.0	96.0	103.0		1487,839	2.7	0.1	11	dbSNP_134	103	0,8588		0,0,4294	yes	missense,missense	TCIRG1	NM_006019.3,NM_006053.3	81,81	0,7,6486	TT,TC,CC		0.0,0.1592,0.0539	benign,benign	496/831,280/615	67815372	7,12979	2199	4294	6493	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67815372C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1487C>T	11.37:g.67815372C>T	ENSP00000265686:p.Thr496Met					TCIRG1_ENST00000532635.1_Missense_Mutation_p.T280M	p.T496M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			13	1595	+			496					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1487C>T	CCDS8177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	6.381	0.438456	0.12104	0.001592	0.0	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86164	-2.08;-2.08	3.61	2.66	0.31614	.	0.609279	0.17260	N	0.180822	T	0.76997	0.4066	N	0.16266	0.395	0.09310	N	1	B	0.17268	0.021	B	0.17098	0.017	T	0.67457	-0.5666	10	0.51188	T	0.08	-19.2907	11.1072	0.48210	0.187:0.813:0.0:0.0	.	496	Q13488	VPP3_HUMAN	M	496;280	ENSP00000265686:T496M;ENSP00000434407:T280M	ENSP00000265686:T496M	T	+	2	0	TCIRG1	67571948	0.000000	0.05858	0.058000	0.19502	0.282000	0.26991	0.270000	0.18607	0.820000	0.34516	0.462000	0.41574	ACG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		26	48	0	0	0	1	0	26	48				
CEP350	9857	broad.mit.edu	37	1	179989380	179989380	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179989380G>A	ENST00000367607.3	+	12	2889	c.2471G>A	c.(2470-2472)cGt>cAt	p.R824H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	824					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAACTGGATCGTATTGAAGCC	0.433																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2470-2472)cGt>cAt		centrosomal protein 350kDa							130.0	136.0	134.0					1																	179989380		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989380G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2471G>A	1.37:g.179989380G>A	ENSP00000356579:p.Arg824His						p.R824H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	2889	+			824					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2471G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344037	0.61073	.	.	ENSG00000135837	ENST00000367607	T	0.25250	1.81	6.02	5.1	0.69264	.	0.143953	0.29916	N	0.010875	T	0.14743	0.0356	N	0.24115	0.695	0.58432	D	0.999994	P;P	0.40050	0.647;0.7	B;B	0.28849	0.07;0.095	T	0.06250	-1.0837	9	.	.	.	.	14.383	0.66923	0.0709:0.0:0.9291:0.0	.	824;824	E7EU22;Q5VT06	.;CE350_HUMAN	H	824	ENSP00000356579:R824H	.	R	+	2	0	CEP350	178256003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.337000	0.79256	2.865000	0.98341	0.655000	0.94253	CGT		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		43	81	0	0	0	1	0	43	81				
NALCN	259232	broad.mit.edu	37	13	101742291	101742291	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101742291T>C	ENST00000251127.6	-	29	3377	c.3296A>G	c.(3295-3297)gAc>gGc	p.D1099G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1099					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCCACATTGTCGAAATTAAA	0.463																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3295-3297)gAc>gGc		sodium leak channel, non-selective							229.0	237.0	235.0					13																	101742291		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101742291T>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3296A>G	13.37:g.101742291T>C	ENSP00000251127:p.Asp1099Gly						p.D1099G	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			29	3377	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1099					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3296A>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301711	0.81136	.	.	ENSG00000102452	ENST00000251127	D	0.97480	-4.4	5.77	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98621	1.0667	10	0.87932	D	0	.	12.96	0.58453	0.0:0.0:0.1352:0.8648	.	1099	Q8IZF0	NALCN_HUMAN	G	1099	ENSP00000251127:D1099G	ENSP00000251127:D1099G	D	-	2	0	NALCN	100540292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	0.979000	0.38497	0.533000	0.62120	GAC		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		98	137	0	0	0	1	0	98	137				
FZR1	51343	broad.mit.edu	37	19	3527745	3527745	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3527745C>T	ENST00000395095.3	+	6	587	c.587C>T	c.(586-588)tCg>tTg	p.S196L	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.S196L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	196					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGACTGGTCGTCCCTCAAT	0.627																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(586-588)tCg>tTg		fizzy/cell division cycle 20 related 1 (Drosophila)							138.0	113.0	122.0					19																	3527745		2201	4297	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527745C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.587C>T	19.37:g.3527745C>T	ENSP00000378529:p.Ser196Leu					FZR1_ENST00000395095.3_Missense_Mutation_p.S196L|FZR1_ENST00000313639.8_Intron	p.S196L	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	823	+			196					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.587C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365805	0.95900	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.38560	1.13;1.13	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054894	0.85682	D	0.000000	T	0.73171	0.3553	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.80968	-0.1145	10	0.87932	D	0	-19.2646	17.2027	0.86910	0.0:1.0:0.0:0.0	.	196;196	Q9UM11;Q9UM11-2	FZR_HUMAN;.	L	196	ENSP00000410369:S196L;ENSP00000378529:S196L	ENSP00000378529:S196L	S	+	2	0	FZR1	3478745	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	7.584000	0.82572	2.399000	0.81585	0.655000	0.94253	TCG		0.627	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		15	18	0	0	0	1	0	15	18				
MAML2	84441	broad.mit.edu	37	11	95712519	95712519	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95712519G>A	ENST00000524717.1	-	5	4348	c.3064C>T	c.(3064-3066)Cca>Tca	p.P1022S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1022					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGCACTGCTGGTGTTAACTGG	0.512			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3064-3066)Cca>Tca		mastermind-like 2 (Drosophila)							128.0	115.0	119.0					11																	95712519		1961	4150	6111	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712519G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3064C>T	11.37:g.95712519G>A	ENSP00000434552:p.Pro1022Ser						p.P1022S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4348	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1022					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3064C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740061	0.69304	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51071	0.72;0.72	5.72	4.8	0.61643	.	0.080212	0.52532	D	0.000072	T	0.44953	0.1318	N	0.22421	0.69	0.44976	D	0.997996	D	0.58620	0.983	P	0.53490	0.727	T	0.40098	-0.9581	10	0.45353	T	0.12	-12.0193	11.5767	0.50866	0.0:0.2624:0.6152:0.1223	.	1022	Q8IZL2	MAML2_HUMAN	S	1022	ENSP00000434552:P1022S;ENSP00000412394:P1022S	ENSP00000412394:P1022S	P	-	1	0	MAML2	95352167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.463000	0.53050	1.404000	0.46819	0.561000	0.74099	CCA		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			13	22	0	0	0	1	0	13	22				
EMILIN1	11117	broad.mit.edu	37	2	27303628	27303628	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27303628C>T	ENST00000380320.4	+	3	818	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	107	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R107C(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCGCTACCGTGTGGCCTA	0.637											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380320.4																			1	Substitution - Missense(1)	p.R107C(1)	lung(1)	breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(319-321)Cgt>Tgt		elastin microfibril interfacer 1							52.0	41.0	44.0					2																	27303628		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27303628C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.319C>T	2.37:g.27303628C>T	ENSP00000369677:p.Arg107Cys		OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793		p.R107C	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			3	818	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		107			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.319C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810531	0.90707	.	.	ENSG00000138080	ENST00000380320	T	0.55588	0.51	6.07	5.12	0.69794	EMI domain (2);	0.064290	0.56097	D	0.000023	T	0.67608	0.2911	L	0.60455	1.87	0.49389	D	0.999789	D	0.89917	1.0	D	0.76071	0.987	T	0.68808	-0.5311	10	0.87932	D	0	-14.6297	13.3525	0.60609	0.1674:0.8326:0.0:0.0	.	107	Q9Y6C2	EMIL1_HUMAN	C	107	ENSP00000369677:R107C	ENSP00000369677:R107C	R	+	1	0	EMILIN1	27157132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.423000	0.52756	2.884000	0.98904	0.655000	0.94253	CGT		0.637	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		10	13	0	0	0	1	0	10	13				
TYW1B	441250	broad.mit.edu	37	7	72267429	72267429	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72267429C>T	ENST00000435769.2	-	0	954				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCTTTCTTCACGTGATCCATA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							275.0	226.0	241.0					7																	72267429		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72267429C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72267429C>T										Q6NUM6	TYW1B_HUMAN			0	444	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		19	45	0	0	0	1	0	19	45				
IGKV1-5	28299	broad.mit.edu	37	2	89247280	89247280	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:89247280G>A	ENST00000496168.1	-	0	195							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCTGAGCGGGGACCCTCATGT	0.552																																						ENST00000496168.1																			0																				135.0	132.0	133.0					2																	89247280		1214	2518	3732			0							g.chr2:89247280G>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247280G>A														0	195	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.552	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		38	65	0	0	0	1	0	38	65				
CC2D2A	57545	broad.mit.edu	37	4	15602983	15602983	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:15602983C>T	ENST00000503292.1	+	38	4978	c.4798C>T	c.(4798-4800)Cac>Tac	p.H1600Y	CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1492Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1600Y|CC2D2A_ENST00000424120.1_Missense_Mutation_p.H1600Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1600					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGTATACATACACCCATACCC	0.348																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4798-4800)Cac>Tac		coiled-coil and C2 domain containing 2A							128.0	118.0	121.0					4																	15602983		1856	4101	5957	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15602983C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4798C>T	4.37:g.15602983C>T	ENSP00000421809:p.His1600Tyr					CC2D2A_ENST00000389652.5_Missense_Mutation_p.H1492Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H1600Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H1600Y	p.H1600Y			Q9P2K1	C2D2A_HUMAN			37	5052	+			1600					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4798C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892927	0.91889	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.70595	2.14	0.80722	D	1	D;P	0.89917	1.0;0.947	D;D	0.91635	0.999;0.951	T	0.82106	-0.0621	10	0.41790	T	0.15	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	1600;1492	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Y	1600;1600;1492;1492;1600;1492	ENSP00000403465:H1600Y;ENSP00000398391:H1600Y;ENSP00000421809:H1600Y;ENSP00000374303:H1492Y	ENSP00000374303:H1492Y	H	+	1	0	CC2D2A	15212081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.156000	0.77453	2.840000	0.97914	0.655000	0.94253	CAC		0.348	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		4	26	0	0	0	1	0	4	26				
SCUBE1	80274	broad.mit.edu	37	22	43716064	43716064	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43716064G>A	ENST00000360835.4	-	3	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	SCUBE1_ENST00000290460.7_Silent_p.D76D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	76	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTCACACTCGTCAATGTCTG	0.537																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(226-228)gaC>gaT		signal peptide, CUB domain, EGF-like 1							169.0	136.0	147.0					22																	43716064		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43716064G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.228C>T	22.37:g.43716064G>A						SCUBE1_ENST00000290460.7_Silent_p.D76D	p.D76D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			3	354	-		all_neural(38;0.0414)|Ovarian(80;0.07)	76			EGF-like 2; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.228C>T	CCDS14048.1																																																																																				0.537	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		16	29	0	0	0	1	0	16	29				
SLC5A7	60482	broad.mit.edu	37	2	108624992	108624992	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:108624992G>A	ENST00000264047.2	+	8	1243	c.967G>A	c.(967-969)Gtt>Att	p.V323I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V323I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V218I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	323					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTACCAATTGTTCTGCAGTA	0.423																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(967-969)Gtt>Att		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						220.0	188.0	199.0					2																	108624992		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108624992G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.967G>A	2.37:g.108624992G>A	ENSP00000264047:p.Val323Ile					SLC5A7_ENST00000409059.1_Missense_Mutation_p.V323I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V218I	p.V323I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			8	1243	+			323					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.967G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495815	0.96355	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87571	-2.27;-2.27;-2.27	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.71871	2.18	0.80722	D	1	P	0.39551	0.678	P	0.54706	0.759	D	0.91063	0.4887	10	0.48119	T	0.1	-31.6612	20.1253	0.97977	0.0:0.0:1.0:0.0	.	323	Q9GZV3	SC5A7_HUMAN	I	323;218;323	ENSP00000387346:V323I;ENSP00000445351:V218I;ENSP00000264047:V323I	ENSP00000264047:V323I	V	+	1	0	SLC5A7	107991424	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GTT		0.423	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			26	29	0	0	0	1	0	26	29				
VPS13D	55187	broad.mit.edu	37	1	12337557	12337557	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12337557G>A	ENST00000358136.3	+	19	4042	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	VPS13D_ENST00000356315.4_Silent_p.T1304T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGAGTTGACGTTATCCATGG	0.423																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3910-3912)acG>acA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							89.0	91.0	90.0					1																	12337557		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12337557G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3912G>A	1.37:g.12337557G>A						VPS13D_ENST00000356315.4_Silent_p.T1304T	p.T1304T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	4042	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1304						Silent	SNP	ENST00000358136.3	37	c.3912G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	2.478	-0.320329	0.05386	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.91	-6.9	0.01655	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38067	-0.9678	4	.	.	.	.	2.4726	0.04567	0.2588:0.1731:0.3851:0.183	.	.	.	.	H	127	.	.	R	+	2	0	VPS13D	12260144	0.000000	0.05858	0.651000	0.29564	0.955000	0.61496	-1.132000	0.03235	-1.457000	0.01919	-1.093000	0.02169	CGT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		45	57	0	0	0	1	0	45	57				
USH2A	7399	broad.mit.edu	37	1	215987212	215987212	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215987212G>T	ENST00000307340.3	-	49	9991	c.9605C>A	c.(9604-9606)cCt>cAt	p.P3202H	USH2A_ENST00000366943.2_Missense_Mutation_p.P3202H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3202	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGATGTCCAGGCTTGGGGTT	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9604-9606)cCt>cAt		Usher syndrome 2A (autosomal recessive, mild)							102.0	94.0	97.0					1																	215987212		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215987212G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9605C>A	1.37:g.215987212G>T	ENSP00000305941:p.Pro3202His	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P3202H	p.P3202H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	9991	-			3202					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9605C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041978	0.75732	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.59;2.59	5.98	5.07	0.68467	Fibronectin, type III (2);	0.167298	0.28209	N	0.016194	T	0.28433	0.0703	M	0.77103	2.36	0.38803	D	0.955234	D	0.63880	0.993	P	0.49999	0.628	T	0.09164	-1.0687	10	0.87932	D	0	.	15.5088	0.75764	0.067:0.0:0.933:0.0	.	3202	O75445	USH2A_HUMAN	H	3202	ENSP00000305941:P3202H;ENSP00000355910:P3202H	ENSP00000305941:P3202H	P	-	2	0	USH2A	214053835	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	5.443000	0.66581	2.847000	0.97988	0.591000	0.81541	CCT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	38	1	0	3.27435e-08	1	3.44876e-08	12	38				
OCA2	4948	broad.mit.edu	37	15	28260033	28260033	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28260033G>T	ENST00000354638.3	-	9	1088	c.933C>A	c.(931-933)acC>acA	p.T311T	OCA2_ENST00000353809.5_Silent_p.T311T|OCA2_ENST00000382996.2_Silent_p.T311T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	311					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGACAGCCTGGGTCTGCTGCA	0.587									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(931-933)acC>acA		oculocutaneous albinism II							105.0	80.0	88.0					15																	28260033		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28260033G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.933C>A	15.37:g.28260033G>T						OCA2_ENST00000353809.5_Silent_p.T311T|OCA2_ENST00000382996.2_Silent_p.T311T	p.T311T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1088	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	311					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.933C>A	CCDS10020.1																																																																																				0.587	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		3	17	1	0	0.004672	1	0.00472505	3	17				
DDX1	1653	broad.mit.edu	37	2	15770167	15770167	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15770167G>A	ENST00000381341.2	+	26	2414	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P	DDX1_ENST00000233084.3_Silent_p.P675P			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	675	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.P675P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGTTGAGCCGGATATAAAGG	0.343																																						ENST00000381341.2																			1	Substitution - coding silent(1)	p.P675P(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2023-2025)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box helicase 1							96.0	102.0	100.0					2																	15770167		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770167G>A	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2025G>A	2.37:g.15770167G>A						DDX1_ENST00000233084.3_Silent_p.P675P	p.P675P			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2414	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	675			Helicase C-terminal.|Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.2025G>A	CCDS1686.1																																																																																				0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		16	88	0	0	0	1	0	16	88				
SIDT2	51092	broad.mit.edu	37	11	117062993	117062993	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117062993G>A	ENST00000324225.4	+	20	2427	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.A629A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	632					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGAACACGGCGTTCTGGATCG	0.622																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1894-1896)gcG>gcA		SID1 transmembrane family, member 2							119.0	100.0	106.0					11																	117062993		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117062993G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1896G>A	11.37:g.117062993G>A						SIDT2_ENST00000431081.2_Silent_p.A629A	p.A632A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	20	2427	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	632					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1896G>A	CCDS31682.1																																																																																				0.622	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		24	29	0	0	0	1	0	24	29				
KLK9	284366	broad.mit.edu	37	19	51507095	51507095	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51507095C>T	ENST00000594211.1	-	4	468	c.468G>A	c.(466-468)gcG>gcA	p.A156A	KLK9_ENST00000376832.4_Splice_Site_p.A156A|KLK9_ENST00000250366.6_Splice_Site_p.A156A|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000600767.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	156	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGGAAACAGCGCTGTCAGGG	0.537																																						ENST00000376832.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.e4-1		kallikrein-related peptidase 9							115.0	80.0	92.0					19																	51507095		2203	4300	6503	SO:0001630	splice_region_variant	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51507095C>T	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.467-1G>A	19.37:g.51507095C>T						CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Splice_Site_p.A156_splice|KLK9_ENST00000250366.6_Splice_Site_p.A156_splice	p.A156_splice	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	4	501	-		all_neural(266;0.0652)	156			Peptidase S1.		Q6QA55	Splice_Site	SNP	ENST00000594211.1	37	c.466_splice	CCDS12816.1																																																																																				0.537	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315	Silent	16	26	0	0	0	1	0	16	26				
CFAP54	144535	broad.mit.edu	37	12	97078927	97078927	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:97078927G>A	ENST00000524981.4	+	42	5948	c.5925G>A	c.(5923-5925)ccG>ccA	p.P1975P				Q96N23	CL055_HUMAN		120																	ATTCACCTCCGGGTTTCAAAG	0.473																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1276-1278)ccG>ccA									99.0	88.0	92.0					12																	97078927		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:97078927G>A																												ENST00000524981.4:c.5925G>A	12.37:g.97078927G>A							p.P426P			Q6ZTY8	CL063_HUMAN			9	1278	+			400						Silent	SNP	ENST00000524981.4	37	c.1278G>A																																																																																					0.473	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			19	29	0	0	0	1	0	19	29				
RFC1	5981	broad.mit.edu	37	4	39344069	39344069	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39344069G>A	ENST00000381897.1	-	4	360	c.227C>T	c.(226-228)aCg>aTg	p.T76M	RFC1_ENST00000349703.2_Missense_Mutation_p.T76M|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	76					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TACCTGCAACGTCTCCTCTGA	0.358																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(226-228)aCg>aTg		replication factor C (activator 1) 1, 145kDa							151.0	150.0	150.0					4																	39344069		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39344069G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.227C>T	4.37:g.39344069G>A	ENSP00000371321:p.Thr76Met					RFC1_ENST00000349703.2_Missense_Mutation_p.T76M|RFC1_ENST00000418436.1_5'UTR	p.T76M	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			4	360	-			76					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.227C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.541328	0.27563	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.31510	1.49;1.49	5.51	3.77	0.43336	.	0.407852	0.24838	N	0.035185	T	0.35770	0.0943	M	0.67953	2.075	0.23724	N	0.997018	P;P	0.50943	0.94;0.93	P;P	0.48815	0.466;0.591	T	0.22034	-1.0228	10	0.48119	T	0.1	-7.0373	6.1485	0.20298	0.1653:0.1557:0.679:0.0	.	76;76	P35251;P35251-2	RFC1_HUMAN;.	M	76;76;48	ENSP00000371321:T76M;ENSP00000261424:T76M	ENSP00000261424:T76M	T	-	2	0	RFC1	39020464	1.000000	0.71417	0.642000	0.29436	0.137000	0.21094	3.826000	0.55738	0.800000	0.34041	0.549000	0.68633	ACG		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		27	45	0	0	0	1	0	27	45				
ZNF668	79759	broad.mit.edu	37	16	31073037	31073037	+	Silent	SNP	C	C	T	rs201025557		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31073037C>T	ENST00000538906.1	-	3	1996	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	ZNF668_ENST00000539836.3_Silent_p.S427S|ZNF668_ENST00000300849.4_Silent_p.S404S|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Silent_p.S404S|ZNF668_ENST00000417110.2_Silent_p.D75D|ZNF668_ENST00000426488.2_Silent_p.S427S|ZNF668_ENST00000394983.2_Silent_p.S404S	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGGCTCGACGACACCACAA	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1210-1212)tcG>tcA		zinc finger protein 668							99.0	103.0	102.0					16																	31073037		2197	4300	6497	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073037C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1212G>A	16.37:g.31073037C>T						ZNF668_ENST00000539836.3_Silent_p.S427S|ZNF668_ENST00000535577.1_Silent_p.S404S|ZNF668_ENST00000417110.2_Silent_p.D75D|ZNF668_ENST00000394983.2_Silent_p.S404S|ZNF668_ENST00000300849.4_Silent_p.S404S|ZNF668_ENST00000426488.2_Silent_p.S427S	p.S404S	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	1996	-			404					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1212G>A	CCDS10701.1																																																																																				0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	108	0	0	0	1	0	5	108				
RB1CC1	9821	broad.mit.edu	37	8	53573719	53573719	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:53573719T>C	ENST00000025008.5	-	10	2004	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q494R|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q494R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	494					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGTACATCTGAGGAACTGT	0.373																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1480-1482)cAg>cGg		RB1-inducible coiled-coil 1							108.0	103.0	105.0					8																	53573719		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573719T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1481A>G	8.37:g.53573719T>C	ENSP00000025008:p.Gln494Arg					RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q494R|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q494R	p.Q494R	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			10	2004	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	494					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1481A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304893	0.60305	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.4;2.4;2.4	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.24548	-1.0157	10	0.51188	T	0.08	-12.9131	15.6626	0.77199	0.0:0.0:0.0:1.0	.	494;494	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	R	494	ENSP00000025008:Q494R;ENSP00000396067:Q494R;ENSP00000445960:Q494R	ENSP00000025008:Q494R	Q	-	2	0	RB1CC1	53736272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.225000	0.72271	2.161000	0.67846	0.528000	0.53228	CAG		0.373	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		5	80	0	0	0	1	0	5	80				
FCHSD2	9873	broad.mit.edu	37	11	72554562	72554562	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72554562C>T	ENST00000409418.4	-	15	1842	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	FCHSD2_ENST00000458644.2_Missense_Mutation_p.E351K|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409263.1_5'Flank|FCHSD2_ENST00000409314.1_Missense_Mutation_p.E511K|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E431K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E431K	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	487	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ATGGTCAACTCATCTGGTTGA	0.418																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(1531-1533)Gag>Aag		FCH and double SH3 domains 2							192.0	165.0	174.0					11																	72554562		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72554562C>T	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1459G>A	11.37:g.72554562C>T	ENSP00000386722:p.Glu487Lys					FCHSD2_ENST00000458644.2_Missense_Mutation_p.E351K|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E431K|FCHSD2_ENST00000409418.4_Missense_Mutation_p.E487K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E431K	p.E511K			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		16	1699	-			487			SH3 1.		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.1531G>A	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877088	0.91664	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.71	5.71	0.89125	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86464	0.5939	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.998;0.994	D	0.90115	0.4195	10	0.72032	D	0.01	-23.1286	18.8555	0.92251	0.0:1.0:0.0:0.0	.	351;487;431	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	K	431;511;487;351;431	ENSP00000308978:E431K;ENSP00000386987:E511K;ENSP00000386722:E487K;ENSP00000402972:E351K;ENSP00000386314:E431K	ENSP00000308978:E431K	E	-	1	0	FCHSD2	72232210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.709000	0.92574	0.655000	0.94253	GAG		0.418	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		18	28	0	0	0	1	0	18	28				
IL1R1	3554	broad.mit.edu	37	2	102792115	102792115	+	Intron	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102792115T>C	ENST00000410023.1	+	11	1621				IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000233946.3_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.V438A|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V438A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V438A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I						cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGTATGTGTGTAATGGAACAG	0.368																																						ENST00000424272.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1312-1314)gTa>gCa		interleukin 1 receptor, type I	Anakinra(DB00026)						242.0	225.0	230.0					2																	102792115		2203	4300	6503	SO:0001627	intron_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792115T>C	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1303+10T>C	2.37:g.102792115T>C						AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V438A|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.V438A|IL1R1_ENST00000233946.3_Intron	p.V438A			P14778	IL1R1_HUMAN			11	1554	+			0			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1313T>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	T	9.375	1.071564	0.20147	.	.	ENSG00000115594	ENST00000424272;ENST00000409329;ENST00000409288	T;T;T	0.03689	3.84;3.84;3.84	4.62	-8.48	0.00935	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47407	-0.9120	8	0.15499	T	0.54	.	2.0815	0.03635	0.3072:0.397:0.1231:0.1727	.	438	B8ZZ73	.	A	438	ENSP00000415366:V438A;ENSP00000387131:V438A;ENSP00000386478:V438A	ENSP00000386478:V438A	V	+	2	0	IL1R1	102158547	.	.	0.000000	0.03702	0.035000	0.12851	.	.	-1.128000	0.02922	0.460000	0.39030	GTA		0.368	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			32	135	0	0	0	1	0	32	135				
SLCO3A1	28232	broad.mit.edu	37	15	92663751	92663751	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92663751C>A	ENST00000318445.6	+	5	1280	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L356M	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	356					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTGCATCATCCTGGCCGCCTG	0.567																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1066-1068)Ctg>Atg		solute carrier organic anion transporter family, member 3A1							227.0	190.0	203.0					15																	92663751		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663751C>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1066C>A	15.37:g.92663751C>A	ENSP00000320634:p.Leu356Met					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L356M	p.L356M	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		5	1280	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		356					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1066C>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439786	0.83885	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.84070	-1.8;-1.8	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.90164	0.6926	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.97110	0.741;0.999;1.0	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.7362	0.91756	0.0:1.0:0.0:0.0	.	298;356;356	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	M	356;356;75	ENSP00000320634:L356M;ENSP00000387846:L356M	ENSP00000320634:L356M	L	+	1	2	SLCO3A1	90464755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.335000	0.65929	2.418000	0.82041	0.650000	0.86243	CTG		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		97	118	1	0	3.45148e-53	1	3.88244e-53	97	118				
C1orf226	400793	broad.mit.edu	37	1	162351690	162351690	+	5'UTR	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162351690G>T	ENST00000458626.2	+	0	171				C1orf226_ENST00000426197.2_Missense_Mutation_p.G43V|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.G109V	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						GTTGACCACGGCATGTTTGAG	0.557																																						ENST00000426197.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(127-129)gGc>gTc		chromosome 1 open reading frame 226							24.0	26.0	26.0					1																	162351690		1686	3755	5441	SO:0001623	5_prime_UTR_variant	400793							g.chr1:162351690G>T	AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.-2G>T	1.37:g.162351690G>T						C1orf226_ENST00000458626.2_5'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.109_109insV	p.G43V	NM_001135240.1	NP_001128712.1	A1L170	CA226_HUMAN			2	201	+			0					B4DF31	Missense_Mutation	SNP	ENST00000458626.2	37	c.128G>T	CCDS53422.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292084	0.59976	.	.	ENSG00000254706;ENSG00000239887	ENST00000431696;ENST00000426197	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.47488	0.1448	.	.	.	.	.	.	P	0.35272	0.493	B	0.39465	0.3	T	0.52983	-0.8502	6	0.46703	T	0.11	.	18.0555	0.89363	0.0:0.0:1.0:0.0	.	43	A1L170-2	.	V	109;43	.	ENSP00000413150:G43V	G	+	2	0	C1orf226;RP11-565P22.6	160618314	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.091000	0.89528	2.589000	0.87451	0.655000	0.94253	GGC		0.557	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375		6	17	1	0	0.00307968	1	0.00311927	6	17				
SCAF1	58506	broad.mit.edu	37	19	50154650	50154650	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50154650C>T	ENST00000360565.3	+	7	1128	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	335					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCCCTGGAACGCCGCCCCAG	0.701																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1003-1005)aCg>aTg		SR-related CTD-associated factor 1							15.0	16.0	16.0					19																	50154650		2190	4290	6480	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154650C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1004C>T	19.37:g.50154650C>T	ENSP00000353769:p.Thr335Met						p.T335M	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1128	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	335					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.1004C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074665	0.20227	.	.	ENSG00000126461	ENST00000360565	T	0.33865	1.39	4.07	3.03	0.35002	.	0.391739	0.18723	N	0.132955	T	0.27241	0.0668	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.53954	0.738	T	0.04961	-1.0915	9	.	.	.	-10.2404	5.0364	0.14436	0.0:0.665:0.2186:0.1165	.	335	Q9H7N4	SFR19_HUMAN	M	335	ENSP00000353769:T335M	.	T	+	2	0	SCAF1	54846462	0.000000	0.05858	0.012000	0.15200	0.027000	0.11550	0.202000	0.17295	2.187000	0.69744	0.591000	0.81541	ACG		0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	8	0	0	0	1	0	3	8				
CTBS	1486	broad.mit.edu	37	1	85031599	85031599	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85031599A>T	ENST00000370630.5	-	4	670	c.622T>A	c.(622-624)Tct>Act	p.S208T	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	208					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCATCATAAGACATCACAAAG	0.388																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(622-624)Tct>Act		chitobiase, di-N-acetyl-							105.0	98.0	100.0					1																	85031599		2203	4300	6503	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85031599A>T	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.622T>A	1.37:g.85031599A>T	ENSP00000359664:p.Ser208Thr					CTBS_ENST00000477677.1_5'UTR	p.S208T	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	4	670	-			208					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.622T>A	CCDS698.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602451	0.87157	.	.	ENSG00000117151	ENST00000370630	T	0.04502	3.61	5.88	4.76	0.60689	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047712	0.85682	D	0.000000	T	0.06781	0.0173	M	0.73430	2.235	0.54753	D	0.999982	D	0.56521	0.976	D	0.67231	0.95	T	0.27191	-1.0081	10	0.02654	T	1	-15.2923	11.6465	0.51263	0.9311:0.0:0.0689:0.0	.	208	Q01459	DIAC_HUMAN	T	208	ENSP00000359664:S208T	ENSP00000359659:S117T	S	-	1	0	CTBS	84804187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.065000	0.40693	0.533000	0.62120	TCT		0.388	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		10	45	0	0	0	1	0	10	45				
PMEL	6490	broad.mit.edu	37	12	56349134	56349134	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56349134C>A	ENST00000548747.1	-	10	2436	c.1774G>T	c.(1774-1776)Ggc>Tgc	p.G592C	PMEL_ENST00000552882.1_Missense_Mutation_p.G592C|PMEL_ENST00000360714.4_Missense_Mutation_p.G599C|PMEL_ENST00000550447.1_Missense_Mutation_p.G221C|PMEL_ENST00000550464.1_Missense_Mutation_p.G506C|PMEL_ENST00000536427.1_Missense_Mutation_p.G557C|PMEL_ENST00000449260.2_Missense_Mutation_p.G599C|PMEL_ENST00000548493.1_Missense_Mutation_p.G592C|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_Missense_Mutation_p.G506C			P40967	PMEL_HUMAN	premelanosome protein	592				G -> GG (in Ref. 2; AA sequence). {ECO:0000305}.	melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCCAAGGCCTGCTTCTTGA	0.537																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1774-1776)Ggc>Tgc		premelanosome protein							188.0	162.0	171.0					12																	56349134		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349134C>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1774G>T	12.37:g.56349134C>A	ENSP00000448828:p.Gly592Cys					PMEL_ENST00000548493.1_Missense_Mutation_p.G592C|PMEL_ENST00000360714.4_Missense_Mutation_p.G599C|PMEL_ENST00000449260.2_Missense_Mutation_p.G599C|PMEL_ENST00000536427.1_Missense_Mutation_p.G557C|PMEL_ENST00000550464.1_Missense_Mutation_p.G506C|PMEL_ENST00000552882.1_Missense_Mutation_p.G592C|PMEL_ENST00000539511.1_Missense_Mutation_p.G506C|PMEL_ENST00000550447.1_Missense_Mutation_p.G221C	p.G592C			P40967	PMEL_HUMAN			10	2436	-			592	G -> GG (in Ref. 2; AA sequence).				B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1774G>T	CCDS8897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.95|17.95	3.512761|3.512761	0.64522|0.64522	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000550447|ENST00000549404	T;T;T;T;T;T;T;T|.	0.12361|.	3.06;2.98;2.98;2.98;2.98;3.06;2.69;2.98|.	5.7|5.7	2.89|2.89	0.33648|0.33648	.|.	0.337134|.	0.25436|.	N|.	0.030684|.	T|T	0.46405|0.46405	0.1391|0.1391	L|L	0.51422|0.51422	1.61|1.61	0.30334|0.30334	N|N	0.786352|0.786352	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.74023|.	0.982;0.974;0.937|.	T|T	0.44877|0.44877	-0.9299|-0.9299	10|5	0.56958|.	D|.	0.05|.	-23.9928|-23.9928	8.4671|8.4671	0.32962|0.32962	0.0:0.7543:0.0:0.2457|0.0:0.7543:0.0:0.2457	.|.	506;599;592|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	C|M	599;592;506;592;592;599;557;506;221|444	ENSP00000402758:G599C;ENSP00000449690:G592C;ENSP00000450036:G506C;ENSP00000448828:G592C;ENSP00000447374:G592C;ENSP00000353940:G599C;ENSP00000438695:G557C;ENSP00000445005:G506C|.	ENSP00000353940:G599C|.	G|R	-|-	1|2	0|0	PMEL|PMEL	54635401|54635401	0.982000|0.982000	0.34865|0.34865	0.996000|0.996000	0.52242|0.52242	0.890000|0.890000	0.51754|0.51754	1.547000|1.547000	0.36190|0.36190	0.434000|0.434000	0.26340|0.26340	-0.140000|-0.140000	0.14226|0.14226	GGC|AGG		0.537	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		18	69	1	0	1.67942e-08	1	1.77343e-08	18	69				
KLC1	3831	broad.mit.edu	37	14	104139525	104139525	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104139525G>A	ENST00000348520.6	+	8	1480		c.e8+1		KLC1_ENST00000389744.4_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AAATAACCTGGTGTGTTGACT	0.433																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.e8+1		kinesin light chain 1							43.0	43.0	43.0					14																	104139525		2203	4300	6503	SO:0001630	splice_region_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104139525G>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1161+1G>A	14.37:g.104139525G>A						KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site				Q07866	KLC1_HUMAN			8	1430	+		Melanoma(154;0.155)|all_epithelial(191;0.19)						A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Splice_Site	SNP	ENST00000348520.6	37		CCDS41996.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303734	0.81136	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5386	0.95266	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC1;RP11-73M18.2	103209278	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	9.862000	0.99564	2.610000	0.88304	0.650000	0.86243	.		0.433	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	Intron	11	13	0	0	0	1	0	11	13				
DHH	50846	broad.mit.edu	37	12	49483682	49483682	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49483682G>A	ENST00000266991.2	-	3	1457	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	384					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						GAGGAGCCGAGAGTACCAATG	0.662																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(1150-1152)tCt>tTt		desert hedgehog							10.0	12.0	11.0					12																	49483682		2198	4294	6492	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49483682G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1151C>T	12.37:g.49483682G>A	ENSP00000266991:p.Ser384Phe						p.S384F	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			3	1457	-			384					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.1151C>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.983196	0.74474	.	.	ENSG00000139549	ENST00000266991	D	0.99445	-5.91	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.200343	0.42420	D	0.000710	D	0.99296	0.9754	M	0.75447	2.3	0.38991	D	0.959143	D	0.65815	0.995	D	0.63192	0.912	D	0.98850	1.0758	10	0.87932	D	0	-15.8194	12.9064	0.58154	0.0:0.1639:0.8361:0.0	.	384	O43323	DHH_HUMAN	F	384	ENSP00000266991:S384F	ENSP00000266991:S384F	S	-	2	0	DHH	47769949	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.167000	0.71902	2.654000	0.90174	0.556000	0.70494	TCT		0.662	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		3	0	0	0	0	1	0	3	0				
ANPEP	290	broad.mit.edu	37	15	90348601	90348601	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90348601C>T	ENST00000300060.6	-	3	1021	c.708G>A	c.(706-708)acG>acA	p.T236T	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	236	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGTGGATAAGCGTGATGTTGA	0.642																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(706-708)acG>acA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						153.0	141.0	145.0					15																	90348601		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348601C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.708G>A	15.37:g.90348601C>T							p.T236T	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		3	1021	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		236			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.708G>A	CCDS10356.1																																																																																				0.642	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			13	25	0	0	0	1	0	13	25				
STAG1	10274	broad.mit.edu	37	3	136078015	136078015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136078015G>A	ENST00000383202.2	-	27	3167	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	STAG1_ENST00000536929.1_Nonsense_Mutation_p.R555*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.R711*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.R971*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	971					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)			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						ACTGCTTCTCGTGTCTTAATC	0.413																																						ENST00000383202.2																			0				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						c.(2911-2913)Cga>Tga		stromal antigen 1							145.0	131.0	136.0					3																	136078015		2203	4300	6503	SO:0001587	stop_gained	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136078015G>A	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.2911C>T	3.37:g.136078015G>A	ENSP00000372689:p.Arg971*					STAG1_ENST00000236698.5_Nonsense_Mutation_p.R971*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.R555*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.R711*	p.R971*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			27	3167	-			971					O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	c.2911C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	40	8.220596	0.98712	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.67	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0627	0.53570	0.0:0.0:0.416:0.584	.	.	.	.	X	971;971;711;555	.	ENSP00000236698:R971X	R	-	1	2	STAG1	137560705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	1.334000	0.45468	0.655000	0.94253	CGA		0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		28	30	0	0	0	1	0	28	30				
OR8J3	81168	broad.mit.edu	37	11	55904632	55904632	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55904632G>T	ENST00000301529.1	-	1	562	c.563C>A	c.(562-564)tCt>tAt	p.S188Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCAGAGCAAGATAATGCTAA	0.308																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(562-564)tCt>tAt		olfactory receptor, family 8, subfamily J, member 3							113.0	114.0	113.0					11																	55904632		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904632G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.563C>A	11.37:g.55904632G>T	ENSP00000301529:p.Ser188Tyr						p.S188Y	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	562	-	Esophageal squamous(21;0.00693)		188					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.563C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611382	0.28712	.	.	ENSG00000167822	ENST00000301529	T	0.00301	8.21	3.26	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.00815	0.0027	H	0.95079	3.62	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.31364	-0.9946	10	0.87932	D	0	.	7.5514	0.27800	0.2486:0.0:0.7514:0.0	.	188	Q8NGG0	OR8J3_HUMAN	Y	188	ENSP00000301529:S188Y	ENSP00000301529:S188Y	S	-	2	0	OR8J3	55661208	0.003000	0.15002	0.053000	0.19242	0.565000	0.35776	1.215000	0.32431	0.365000	0.24400	0.289000	0.19496	TCT		0.308	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		21	42	1	0	1.50039e-11	1	1.61536e-11	21	42				
SCN1A	6323	broad.mit.edu	37	2	166848823	166848823	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166848823C>A	ENST00000303395.4	-	26	4961	c.4962G>T	c.(4960-4962)aaG>aaT	p.K1654N	SCN1A_ENST00000423058.2_Missense_Mutation_p.K1654N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1626N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1643N			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1654					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCGGATCCCCTTTGCTCCTT	0.498																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4960-4962)aaG>aaT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						113.0	111.0	111.0					2																	166848823		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848823C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4962G>T	2.37:g.166848823C>A	ENSP00000303540:p.Lys1654Asn					SCN1A_ENST00000375405.3_Missense_Mutation_p.K1643N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.K1654N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1626N	p.K1654N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4979	-			1654					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4962G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189905	0.57909	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.27	2.54	0.30619	.	0.000000	0.64402	D	0.000006	D	0.99086	0.9686	M	0.90922	3.16	0.51233	D	0.999912	D	0.89917	1.0	D	0.79108	0.992	D	0.99239	1.0884	10	0.87932	D	0	.	9.6158	0.39690	0.0:0.7229:0.0:0.2771	.	1643	P35498-2	.	N	1654;1654;1643;1626	ENSP00000407030:K1654N;ENSP00000303540:K1654N;ENSP00000364554:K1643N;ENSP00000386312:K1626N	ENSP00000303540:K1654N	K	-	3	2	SCN1A	166557069	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	0.671000	0.25172	0.237000	0.21200	-0.808000	0.03180	AAG		0.498	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		33	51	1	0	2.80507e-11	1	3.01652e-11	33	51				
TMEM39B	55116	broad.mit.edu	37	1	32568174	32568174	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32568174A>G	ENST00000336294.5	+	9	1525	c.1379A>G	c.(1378-1380)tAc>tGc	p.Y460C	TMEM39B_ENST00000373634.4_Missense_Mutation_p.Y261C|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	460						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TTCAGCAACTACTATGCCTTC	0.552																																						ENST00000336294.5																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(1378-1380)tAc>tGc		transmembrane protein 39B							138.0	123.0	128.0					1																	32568174		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32568174A>G	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1379A>G	1.37:g.32568174A>G	ENSP00000338165:p.Tyr460Cys					TMEM39B_ENST00000373634.4_Missense_Mutation_p.Y261C|TMEM39B_ENST00000487305.1_3'UTR	p.Y460C	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN			9	1525	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	460					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.1379A>G	CCDS351.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517400	0.85495	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83322	-0.0017	9	0.87932	D	0	-29.3557	16.0415	0.80687	1.0:0.0:0.0:0.0	.	460;333	Q9GZU3;Q9NW51	TM39B_HUMAN;.	C	460;261	.	ENSP00000338165:Y460C	Y	+	2	0	TMEM39B	32340761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.904000	0.92590	2.254000	0.74563	0.533000	0.62120	TAC		0.552	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		24	40	0	0	0	1	0	24	40				
CDC20B	166979	broad.mit.edu	37	5	54439343	54439343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54439343G>A	ENST00000381375.2	-	4	629	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	CDC20B_ENST00000334206.5_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000331730.3_Nonsense_Mutation_p.Q141*|CDC20B_ENST00000296733.1_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.Q162*			Q86Y33	CD20B_HUMAN	cell division cycle 20B	162										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTACCTACCTGCCCTTTTGAG	0.413																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(484-486)Cag>Tag		cell division cycle 20B							125.0	118.0	120.0					5																	54439343		2203	4300	6503	SO:0001587	stop_gained	166979							g.chr5:54439343G>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.484C>T	5.37:g.54439343G>A	ENSP00000370781:p.Gln162*					CDC20B_ENST00000296733.1_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000322374.6_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000381375.2_Nonsense_Mutation_p.Q162*|CDC20B_ENST00000331730.3_Nonsense_Mutation_p.Q141*	p.Q162*			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		4	660	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	162					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Nonsense_Mutation	SNP	ENST00000381375.2	37	c.484C>T	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155509	0.38021	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	.	.	.	4.65	4.65	0.58169	.	0.145311	0.32147	N	0.006509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-8.3363	13.217	0.59865	0.0:0.0:1.0:0.0	.	.	.	.	X	162;162;162;162;141	.	ENSP00000296733:Q162X	Q	-	1	0	CDC20B	54475100	0.999000	0.42202	1.000000	0.80357	0.135000	0.20990	3.766000	0.55280	2.559000	0.86315	0.655000	0.94253	CAG		0.413	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		10	44	0	0	0	1	0	10	44				
EIF3F	8665	broad.mit.edu	37	11	8017564	8017564	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8017564C>A	ENST00000533626.1	+	10	1695	c.1069C>A	c.(1069-1071)Ctg>Atg	p.L357M	EIF3F_ENST00000537635.1_Missense_Mutation_p.L372M|EIF3F_ENST00000309828.4_Missense_Mutation_p.L357M|EIF3F_ENST00000449102.2_Missense_Mutation_p.L208M					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTGTAAACCTGTGAATGGA	0.453																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(1069-1071)Ctg>Atg		eukaryotic translation initiation factor 3, subunit F							127.0	127.0	127.0					11																	8017564		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8017564C>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.1069C>A	11.37:g.8017564C>A	ENSP00000431800:p.Leu357Met					EIF3F_ENST00000537635.1_Missense_Mutation_p.L372M|EIF3F_ENST00000449102.2_Missense_Mutation_p.L208M|EIF3F_ENST00000309828.4_Missense_Mutation_p.L357M	p.L357M			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	10	1695	+			357						Missense_Mutation	SNP	ENST00000533626.1	37	c.1069C>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591009	0.66219	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.50548	1.14;1.13;1.14;0.74	5.2	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.43923	1.385	0.58432	D	0.999994	D	0.63046	0.992	P	0.60236	0.871	T	0.59445	-0.7453	10	0.87932	D	0	-12.529	12.1907	0.54270	0.0:0.9147:0.0:0.0853	.	357	O00303	EIF3F_HUMAN	M	357;372;357;307;208	ENSP00000431800:L357M;ENSP00000442283:L372M;ENSP00000310040:L357M;ENSP00000396929:L208M	ENSP00000310040:L357M	L	+	1	2	EIF3F	7974140	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.827000	0.48112	1.511000	0.48818	0.561000	0.74099	CTG		0.453	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		42	63	1	0	2.54354e-34	1	2.85517e-34	42	63				
FILIP1L	11259	broad.mit.edu	37	3	99649852	99649852	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:99649852C>A	ENST00000354552.3	-	2	483	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	FILIP1L_ENST00000398326.2_Missense_Mutation_p.G5C|FILIP1L_ENST00000331335.5_Missense_Mutation_p.G5C|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	5						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTATCACTGCCTCTGGAACGC	0.403																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(13-15)Ggc>Tgc		filamin A interacting protein 1-like							126.0	111.0	116.0					3																	99649852		1862	4110	5972	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649852C>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.13G>T	3.37:g.99649852C>A	ENSP00000346560:p.Gly5Cys					FILIP1L_ENST00000354552.3_Missense_Mutation_p.G5C|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Missense_Mutation_p.G5C|CMSS1_ENST00000496116.1_Intron	p.G5C	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			2	483	-			5					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.13G>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479616	0.26511	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.17854	2.25;2.25;2.74	5.81	3.41	0.39046	.	0.774610	0.11062	N	0.603811	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10086	-1.0645	10	0.72032	D	0.01	-0.6397	7.3032	0.26432	0.129:0.0711:0.0:0.7999	.	5;5	Q4L180-2;Q4L180	.;FIL1L_HUMAN	C	5	ENSP00000346560:G5C;ENSP00000327880:G5C;ENSP00000381371:G5C	ENSP00000327880:G5C	G	-	1	0	FILIP1L	101132542	1.000000	0.71417	0.995000	0.50966	0.536000	0.34869	3.362000	0.52314	0.441000	0.26529	-0.469000	0.05056	GGC		0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		20	42	1	0	1.90627e-21	1	2.11755e-21	20	42				
PPAPDC3	84814	broad.mit.edu	37	9	134165620	134165620	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134165620G>A	ENST00000372264.3	+	1	540	c.236G>A	c.(235-237)gGc>gAc	p.G79D	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	79	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCCTTCAAGGGCATCGCCTTC	0.662																																						ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(235-237)gGc>gAc		phosphatidic acid phosphatase type 2 domain containing 3							74.0	70.0	72.0					9																	134165620		2203	4300	6503	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165620G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.236G>A	9.37:g.134165620G>A	ENSP00000361338:p.Gly79Asp					PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D	p.G79D	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	540	+	all_hematologic(7;0.0119)		79			interaction with MTOR (By similarity).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.236G>A	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125344	0.94429	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.48522	1.8;0.81	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62685	-0.6802	10	0.23302	T	0.38	-40.1678	18.1257	0.89585	0.0:0.0:1.0:0.0	.	79	Q8NBV4	PPAC3_HUMAN	D	79	ENSP00000361338:G79D;ENSP00000361335:G79D	ENSP00000361335:G79D	G	+	2	0	PPAPDC3	133155441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.530000	0.85305	0.561000	0.74099	GGC		0.662	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		17	66	0	0	0	1	0	17	66				
COX5B	1329	broad.mit.edu	37	2	98264505	98264505	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98264505C>T	ENST00000258424.2	+	4	371	c.324C>T	c.(322-324)ggC>ggT	p.G108G	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	108					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TGCACAAAGGCGAGGCCCAGC	0.517																																						ENST00000258424.2																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(322-324)ggC>ggT		cytochrome c oxidase subunit Vb							58.0	56.0	57.0					2																	98264505		2203	4300	6503	SO:0001819	synonymous_variant	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98264505C>T	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.324C>T	2.37:g.98264505C>T						COX5B_ENST00000464949.1_3'UTR	p.G108G	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN			4	371	+			108					Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	c.324C>T	CCDS2032.1																																																																																				0.517	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		4	13	0	0	0	1	0	4	13				
RPUSD3	285367	broad.mit.edu	37	3	9879810	9879810	+	Missense_Mutation	SNP	G	G	A	rs115670492		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9879810G>A	ENST00000383820.5	-	9	947	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	316					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGAAGGAGCCGATGTAGGTGG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17860	0.0		0.0	False		,,,				2504	0.0					ENST00000383820.5																			0				central_nervous_system(2)|endometrium(3)|lung(2)	7						c.(946-948)Cgg>Tgg		RNA pseudouridylate synthase domain containing 3		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	43.0	44.0	44.0		901,946	-0.6	0.0	3	dbSNP_132	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RPUSD3	NM_001142547.1,NM_173659.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	301/337,316/352	9879810	1,13005	2203	4300	6503	SO:0001583	missense	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9879810G>A	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.946C>T	3.37:g.9879810G>A	ENSP00000373331:p.Arg316Trp					TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR	p.R316W	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN			9	947	-	Medulloblastoma(99;0.227)		316					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	ENST00000383820.5	37	c.946C>T	CCDS2586.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.51	1.961141	0.34565	0.0	1.16E-4	ENSG00000156990	ENST00000433535;ENST00000383820	T;T	0.23348	1.91;1.91	5.11	-0.572	0.11745	Pseudouridine synthase, catalytic domain (1);	1.175340	0.05876	N	0.625475	T	0.25644	0.0624	L	0.52364	1.645	0.09310	N	0.999998	B;B	0.18741	0.03;0.023	B;B	0.12156	0.007;0.003	T	0.38265	-0.9669	10	0.72032	D	0.01	.	9.496	0.38989	0.1753:0.0961:0.7286:0.0	.	301;316	Q6P087-2;Q6P087	.;RUSD3_HUMAN	W	301;316	ENSP00000398921:R301W;ENSP00000373331:R316W	ENSP00000373331:R316W	R	-	1	2	RPUSD3	9854810	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	-0.601000	0.05687	-0.533000	0.06323	-0.266000	0.10368	CGG		0.662	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		15	17	0	0	0	1	0	15	17				
PLXNA1	5361	broad.mit.edu	37	3	126708434	126708434	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126708434A>G	ENST00000393409.2	+	1	998	c.998A>G	c.(997-999)gAc>gGc	p.D333G	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D310G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	333	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGGCTGAGGACGAGGACGTG	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(928-930)gAc>gGc		plexin A1							72.0	76.0	75.0					3																	126708434		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708434A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.998A>G	3.37:g.126708434A>G	ENSP00000377061:p.Asp333Gly					PLXNA1_ENST00000393409.2_Missense_Mutation_p.D333G	p.D310G			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	998	+			333			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.929A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	7.489	0.650323	0.14516	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.04551	3.6;3.6	4.15	0.372	0.16173	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.672327	0.14019	N	0.346896	T	0.06005	0.0156	L	0.49256	1.55	0.19575	N	0.999968	B	0.18310	0.027	B	0.35655	0.207	T	0.43845	-0.9366	10	0.21540	T	0.41	.	5.2024	0.15273	0.5377:0.1496:0.3128:0.0	.	333	Q9UIW2	PLXA1_HUMAN	G	333;310	ENSP00000377061:D333G;ENSP00000251772:D310G	ENSP00000251772:D310G	D	+	2	0	PLXNA1	128191124	0.442000	0.25633	0.992000	0.48379	0.845000	0.48019	1.403000	0.34612	0.666000	0.31087	0.402000	0.26972	GAC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		37	42	0	0	0	1	0	37	42				
MIEF2	125170	broad.mit.edu	37	17	18167674	18167674	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18167674C>T	ENST00000323019.4	+	4	1172	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MIEF2_ENST00000395706.2_Missense_Mutation_p.P332S|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	321					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTTGGCCTGGCCCCTGGAGGG	0.677																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(961-963)Ccc>Tcc									53.0	60.0	57.0					17																	18167674		2203	4299	6502	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167674C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.961C>T	17.37:g.18167674C>T	ENSP00000323591:p.Pro321Ser					SMCR7_ENST00000395706.2_Missense_Mutation_p.P332S|SMCR7_ENST00000395704.4_3'UTR	p.P321S	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1172	+	all_neural(463;0.228)		321					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.961C>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249151	0.59103	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.12774	2.66;2.65	5.45	5.45	0.79879	.	0.230429	0.45867	D	0.000332	T	0.31136	0.0787	L	0.55743	1.74	0.33238	D	0.556894	D	0.69078	0.997	D	0.67382	0.951	T	0.27806	-1.0063	10	0.46703	T	0.11	-35.6981	14.9465	0.71035	0.1435:0.8565:0.0:0.0	.	321	Q96C03	MID49_HUMAN	S	321;332	ENSP00000323591:P321S;ENSP00000379057:P332S	ENSP00000323591:P321S	P	+	1	0	SMCR7	18108399	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.539000	0.53604	2.565000	0.86533	0.462000	0.41574	CCC		0.677	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		14	78	0	0	0	1	0	14	78				
WBP11P1	441818	broad.mit.edu	37	18	30093505	30093505	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:30093505G>A	ENST00000567636.1	+	0	1880					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GAAAGCCACAGCAACCGTCAC	0.498																																						ENST00000567636.1																			0																																																			0							g.chr18:30093505G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093505G>A								NR_003558.1						0	1880	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.498	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			53	113	0	0	0	1	0	53	113				
SARS	6301	broad.mit.edu	37	1	109780463	109780463	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109780463G>A	ENST00000234677.2	+	11	1573	c.1498G>A	c.(1498-1500)Gtc>Atc	p.V500I	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Missense_Mutation_p.V522I	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	500					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGCAAGAGACGTCACCCTAGA	0.502																																						ENST00000369923.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(1564-1566)Gtc>Atc		seryl-tRNA synthetase	L-Serine(DB00133)						185.0	153.0	164.0					1																	109780463		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109780463G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1498G>A	1.37:g.109780463G>A	ENSP00000234677:p.Val500Ile					SARS_ENST00000468588.1_3'UTR|SARS_ENST00000234677.2_Missense_Mutation_p.V500I	p.V522I			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	12	1575	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	500					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.1564G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	N	4.838	0.155873	0.09236	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.76709	-1.04;-1.04	6.04	3.19	0.36642	.	1.048920	0.07390	N	0.889023	T	0.34250	0.0891	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25048	0.117;0.024;0.059;0.117	B;B;B;B	0.15052	0.012;0.007;0.01;0.007	T	0.25117	-1.0141	10	0.37606	T	0.19	-8.8499	4.0712	0.09882	0.2297:0.0:0.5194:0.2509	.	497;500;522;500	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	I	500;522	ENSP00000234677:V500I;ENSP00000358939:V522I	ENSP00000234677:V500I	V	+	1	0	SARS	109581986	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.808000	0.27154	0.912000	0.36772	-0.192000	0.12808	GTC		0.502	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		14	12	0	0	0	1	0	14	12				
ZSWIM4	65249	broad.mit.edu	37	19	13936507	13936507	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13936507G>A	ENST00000254323.2	+	11	2197	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A504T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	670							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCTGGGCATCGCACTGGAGCT	0.687																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2008-2010)Gca>Aca		zinc finger, SWIM-type containing 4							26.0	27.0	27.0					19																	13936507		2201	4298	6499	SO:0001583	missense	65249						zinc ion binding	g.chr19:13936507G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2008G>A	19.37:g.13936507G>A	ENSP00000254323:p.Ala670Thr					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A504T	p.A670T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		11	2197	+			670						Missense_Mutation	SNP	ENST00000254323.2	37	c.2008G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250368	0.59212	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.59224	0.28;0.33	4.23	3.13	0.36017	.	0.270883	0.24456	N	0.038362	T	0.45617	0.1351	L	0.45352	1.415	0.29699	N	0.840307	P;B	0.43287	0.802;0.361	B;B	0.39185	0.288;0.293	T	0.52403	-0.8580	10	0.54805	T	0.06	-29.3388	8.6586	0.34079	0.0:0.0:0.6544:0.3456	.	504;670	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	T	670;504	ENSP00000254323:A670T;ENSP00000405278:A504T	ENSP00000254323:A670T	A	+	1	0	ZSWIM4	13797507	0.976000	0.34144	0.994000	0.49952	0.988000	0.76386	1.662000	0.37418	2.177000	0.69029	0.591000	0.81541	GCA		0.687	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		11	14	0	0	0	1	0	11	14				
POU2F2	5452	broad.mit.edu	37	19	42596302	42596302	+	Missense_Mutation	SNP	G	G	A	rs185988799	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42596302G>A	ENST00000526816.2	-	13	1334	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	POU2F2_ENST00000560558.1_Missense_Mutation_p.P385L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P440L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000529952.1_Missense_Mutation_p.P440L|POU2F2_ENST00000389341.5_Missense_Mutation_p.P424L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P446L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P424L			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	440					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GGTGGTGGCCGGGGGTGGGGG	0.706													G|||	4	0.000798722	0.0	0.0	5008	,	,		10306	0.0		0.001	False		,,,				2504	0.0031					ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1270-1272)cCg>cTg		POU class 2 homeobox 2		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4404		0,0,2202	20.0	24.0	23.0		1319,1319,1271	3.6	1.0	19		23	3,8585		0,3,4291	no	missense,missense,missense	POU2F2	NM_001207025.1,NM_001207026.1,NM_002698.3	98,98,98	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	440/480,440/468,424/464	42596302	3,12989	2202	4294	6496	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42596302G>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1319C>T	19.37:g.42596302G>A	ENSP00000431603:p.Pro440Leu					POU2F2_ENST00000529952.1_Missense_Mutation_p.P440L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P446L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P440L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P424L|POU2F2_ENST00000560558.1_Missense_Mutation_p.P385L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.P440L	p.P424L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			13	1337	-		Prostate(69;0.059)	440			Gly-rich.		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1271C>T	CCDS56095.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.20	3.782185	0.70222	0.0	3.49E-4	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529952	D;D;D;D;D	0.83250	-1.59;-1.62;-1.63;-1.7;-1.6	3.62	3.62	0.41486	.	1.321280	0.05805	U	0.612920	D	0.87014	0.6072	L	0.32530	0.975	0.53688	D	0.999975	D;D	0.76494	0.994;0.999	D;D	0.68765	0.931;0.96	T	0.79938	-0.1592	10	0.52906	T	0.07	.	12.6335	0.56671	0.0:0.0:1.0:0.0	.	440;424	P09086;P09086-3	PO2F2_HUMAN;.	L	424;440;440;424;439;440	ENSP00000373992:P424L;ENSP00000339369:P440L;ENSP00000437221:P424L;ENSP00000431603:P439L;ENSP00000436988:P440L	ENSP00000292077:P440L	P	-	2	0	POU2F2	47288142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.823000	0.69272	2.035000	0.60131	0.462000	0.41574	CCG		0.706	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			3	3	0	0	0	1	0	3	3				
SLC39A8	64116	broad.mit.edu	37	4	103188797	103188797	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103188797G>A	ENST00000394833.2	-	7	1559	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	SLC39A8_ENST00000356736.4_Silent_p.S361S|SLC39A8_ENST00000424970.2_Silent_p.S361S	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	361					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CTTGTCGAGTGCTCATCCCTG	0.378																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1081-1083)agC>agT		solute carrier family 39 (zinc transporter), member 8							108.0	100.0	103.0					4																	103188797		2203	4300	6503	SO:0001819	synonymous_variant	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103188797G>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1083C>T	4.37:g.103188797G>A						SLC39A8_ENST00000356736.4_Silent_p.S361S|SLC39A8_ENST00000394833.2_Silent_p.S361S	p.S361S	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	8	1398	-		Hepatocellular(203;0.217)	361					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	ENST00000394833.2	37	c.1083C>T	CCDS3656.1																																																																																				0.378	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		7	42	0	0	0	1	0	7	42				
S1PR1	1901	broad.mit.edu	37	1	101705100	101705100	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101705100C>T	ENST00000305352.6	+	2	935	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	187					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCATCAGTGCGCTGTCCAGC	0.572											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(559-561)gCg>gTg		sphingosine-1-phosphate receptor 1							125.0	114.0	117.0					1																	101705100		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705100C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.560C>T	1.37:g.101705100C>T	ENSP00000305416:p.Ala187Val		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.A187V	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	935	+			187					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.560C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013774	0.19277	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.32	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	2.023430	0.02011	N	0.046982	T	0.09335	0.0230	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15178	-1.0446	10	0.36615	T	0.2	.	1.0303	0.01536	0.3528:0.1642:0.1015:0.3816	.	187	P21453	S1PR1_HUMAN	V	187	ENSP00000305416:A187V	ENSP00000305416:A187V	A	+	2	0	S1PR1	101477688	0.000000	0.05858	0.018000	0.16275	0.916000	0.54674	-0.885000	0.04161	-0.061000	0.13110	0.455000	0.32223	GCG		0.572	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		25	39	0	0	0	1	0	25	39				
VPS13B	157680	broad.mit.edu	37	8	100160238	100160238	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100160238G>T	ENST00000358544.2	+	14	2124	c.2013G>T	c.(2011-2013)aaG>aaT	p.K671N	VPS13B_ENST00000355155.1_Splice_Site_p.K671N|VPS13B_ENST00000357162.2_Splice_Site_p.K671N|VPS13B_ENST00000395996.1_Splice_Site_p.K671N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	671					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGGAGAAAAGGTATATTTTG	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.e14+1		vacuolar protein sorting 13 homolog B (yeast)							135.0	135.0	135.0					8																	100160238		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100160238G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2013+1G>T	8.37:g.100160238G>T						VPS13B_ENST00000358544.2_Splice_Site_p.K671_splice|VPS13B_ENST00000357162.2_Splice_Site_p.K671_splice|VPS13B_ENST00000355155.1_Splice_Site_p.K671_splice	p.K671_splice			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		14	2124	+	Breast(36;3.73e-07)		671					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37	c.2013_splice	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266353	0.80358	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;T;T;T	0.81659	-1.52;-0.8;-0.8;-0.5	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	D	0.85044	0.5607	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.988	D;D;D;P;P	0.85130	0.997;0.997;0.994;0.844;0.844	D	0.86256	0.1652	10	0.56958	D	0.05	.	18.9636	0.92685	0.0:0.0:1.0:0.0	.	671;671;671;671;671	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	671	ENSP00000347281:K671N;ENSP00000349685:K671N;ENSP00000351346:K671N;ENSP00000379318:K671N	ENSP00000347281:K671N	K	+	3	2	VPS13B	100229414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.084000	0.76866	2.540000	0.85666	0.563000	0.77884	AAG		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	20	50	1	0	1.22574e-08	1	1.29596e-08	20	50				
SIAH3	283514	broad.mit.edu	37	13	46357673	46357673	+	Missense_Mutation	SNP	G	G	A	rs370343302		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46357673G>A	ENST00000400405.2	-	2	761	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	219					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGAACAGACCGGGGCGTGGCC	0.617																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(655-657)Cgg>Tgg		siah E3 ubiquitin protein ligase family member 3							50.0	56.0	54.0					13																	46357673		1998	4157	6155	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357673G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.655C>T	13.37:g.46357673G>A	ENSP00000383256:p.Arg219Trp						p.R219W	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	761	-			219					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.655C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520551	0.44866	.	.	ENSG00000215475	ENST00000400405	T	0.30981	1.51	5.07	-0.623	0.11556	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.52821	0.1758	M	0.75615	2.305	0.32750	N	0.506461	D	0.89917	1.0	D	0.97110	1.0	T	0.67542	-0.5644	10	0.87932	D	0	-15.8518	15.5687	0.76317	0.0:0.0:0.4102:0.5898	.	219	Q8IW03	SIAH3_HUMAN	W	219	ENSP00000383256:R219W	ENSP00000383256:R219W	R	-	1	2	SIAH3	45255674	0.865000	0.29922	0.357000	0.25798	0.310000	0.27922	1.036000	0.30228	-0.026000	0.13895	0.561000	0.74099	CGG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		9	15	0	0	0	1	0	9	15				
RPP21	79897	broad.mit.edu	37	6	30314256	30314256	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30314256C>T	ENST00000442966.2	+	4	302	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000428040.2_Missense_Mutation_p.R120C|RPP21_ENST00000433076.2_Missense_Mutation_p.R105C|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R358C|RPP21_ENST00000436442.2_Missense_Mutation_p.R97C			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	97					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						AACATGCCAGCGCAGCCAACG	0.572																																						ENST00000513556.1																			0											c.(1072-1074)Cgc>Tgc									74.0	70.0	72.0					6																	30314256		2203	4300	6503	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr6:30314256C>T	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.289C>T	6.37:g.30314256C>T	ENSP00000403833:p.Arg97Cys					RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Missense_Mutation_p.R105C|RPP21_ENST00000442966.2_Missense_Mutation_p.R97C|RPP21_ENST00000428040.2_Missense_Mutation_p.R120C|RPP21_ENST00000436442.2_Missense_Mutation_p.R97C	p.R358C	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN			9	1072	+			358					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	c.1072C>T	CCDS4679.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061868	0.93846	.	.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.69	5.69	0.88448	.	0.318348	0.32444	N	0.006083	T	0.51329	0.1668	L	0.50333	1.59	0.53688	D	0.999978	D;D;D;D	0.89917	0.994;0.997;1.0;1.0	P;P;D;D	0.70016	0.725;0.753;0.953;0.967	T	0.51513	-0.8696	10	0.87932	D	0	-28.8511	15.6714	0.77279	0.0:1.0:0.0:0.0	.	360;97;97;120	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	C	360;358;105;97;120;97	ENSP00000424048:R358C;ENSP00000409799:R105C;ENSP00000403833:R97C;ENSP00000394320:R120C;ENSP00000397778:R97C	ENSP00000394320:R120C	R	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30422235	0.905000	0.30787	1.000000	0.80357	0.948000	0.59901	1.863000	0.39459	2.840000	0.97914	0.655000	0.94253	CGC		0.572	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		15	15	0	0	0	1	0	15	15				
ZNF276	92822	broad.mit.edu	37	16	89804415	89804415	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89804415C>T	ENST00000443381.2	+	11	1703	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.R461W|ZNF276_ENST00000446326.2_Missense_Mutation_p.R322W|FANCA_ENST00000389301.3_3'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTGCAGGCAGCGGGCATCCCT	0.597																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1381-1383)Cgg>Tgg		zinc finger protein 276							75.0	65.0	69.0					16																	89804415		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804415C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1606C>T	16.37:g.89804415C>T	ENSP00000415836:p.Arg536Trp					ZNF276_ENST00000446326.2_Missense_Mutation_p.R322W|ZNF276_ENST00000443381.2_Missense_Mutation_p.R536W|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR	p.R461W	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1693	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	536					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1381C>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969657	0.74246	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.79033	-1.23;-1.23;0.11	5.74	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.83312	2.635	0.80722	D	1	P;D;P	0.89917	0.892;1.0;0.892	B;D;B	0.97110	0.376;1.0;0.376	D	0.87836	0.2648	10	0.87932	D	0	-33.6709	9.015	0.36164	0.1459:0.78:0.0:0.0741	.	374;536;322	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	W	322;461;536	ENSP00000415999:R322W;ENSP00000289816:R461W;ENSP00000415836:R536W	ENSP00000289816:R461W	R	+	1	2	ZNF276	88331916	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.508000	0.35769	1.428000	0.47296	0.555000	0.69702	CGG		0.597	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		10	23	0	0	0	1	0	10	23				
CDC45	8318	broad.mit.edu	37	22	19504132	19504132	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19504132G>A	ENST00000407835.1	+	17	1779	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	CDC45_ENST00000404724.3_Missense_Mutation_p.G462D|CDC45_ENST00000263201.1_Missense_Mutation_p.G508D|CDC45_ENST00000437685.2_Missense_Mutation_p.G540D			O75419	CDC45_HUMAN	cell division cycle 45	508					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACCGTGGTGGGCATCCCCCCA	0.607																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1522-1524)gGc>gAc		cell division cycle 45							62.0	64.0	63.0					22																	19504132		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19504132G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1523G>A	22.37:g.19504132G>A	ENSP00000385240:p.Gly508Asp					CDC45_ENST00000437685.2_Missense_Mutation_p.G540D|CDC45_ENST00000263201.1_Missense_Mutation_p.G508D|CDC45_ENST00000404724.3_Missense_Mutation_p.G462D	p.G508D			O75419	CDC45_HUMAN			17	1779	+			508					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.1523G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.584080	0.86748	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74456	-0.3659	10	0.87932	D	0	-32.5124	14.6881	0.69065	0.0:0.0:0.8542:0.1458	.	540;462;540;508	E9PDH7;B4DDB4;B4DDU3;O75419	.;.;.;CDC45_HUMAN	D	508;540;508;462	ENSP00000385240:G508D;ENSP00000405726:G540D;ENSP00000263201:G508D;ENSP00000384978:G462D	ENSP00000263201:G508D	G	+	2	0	CDC45	17884132	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.512000	0.81728	2.482000	0.83794	0.563000	0.77884	GGC		0.607	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		14	18	0	0	0	1	0	14	18				
GOT1	2805	broad.mit.edu	37	10	101162417	101162417	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101162417C>T	ENST00000370508.5	-	8	1049	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	GOT1_ENST00000543866.1_Missense_Mutation_p.R320Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	341					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GGCTTCTAGTCGTGCCCTGAG	0.507																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(1021-1023)cGa>cAa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						167.0	127.0	140.0					10																	101162417		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101162417C>T	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1022G>A	10.37:g.101162417C>T	ENSP00000359539:p.Arg341Gln					GOT1_ENST00000543866.1_Missense_Mutation_p.R320Q	p.R341Q	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	8	1049	-		Ovarian(717;0.028)|Colorectal(252;0.234)	341					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.1022G>A	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206208	0.39003	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.97352	-4.35;-4.35	5.78	3.93	0.45458	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.123947	0.53938	N	0.000043	D	0.93074	0.7795	L	0.55834	1.745	0.44719	D	0.997715	P	0.45768	0.866	B	0.24701	0.055	D	0.90507	0.4478	10	0.44086	T	0.13	-5.8888	12.2239	0.54449	0.0:0.8624:0.0:0.1376	.	341	P17174	AATC_HUMAN	Q	341;294;320	ENSP00000359539:R341Q;ENSP00000445578:R320Q	ENSP00000359539:R341Q	R	-	2	0	GOT1	101152407	0.997000	0.39634	0.922000	0.36590	0.342000	0.28953	3.113000	0.50376	0.793000	0.33875	-0.140000	0.14226	CGA		0.507	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		27	33	0	0	0	1	0	27	33				
MSTO1	55154	broad.mit.edu	37	1	155582956	155582956	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155582956G>A	ENST00000245564.2	+	11	1239	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.E370E|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	405					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATGTGGGGAGCCTTCTGGAA	0.567																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(1213-1215)gaG>gaA		misato 1, mitochondrial distribution and morphology regulator							73.0	74.0	74.0					1																	155582956		2203	4298	6501	SO:0001819	synonymous_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582956G>A	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1215G>A	1.37:g.155582956G>A						MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.E370E	p.E405E	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			11	1239	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		405					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	c.1215G>A	CCDS1114.1																																																																																				0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		26	39	0	0	0	1	0	26	39				
RUFY4	285180	broad.mit.edu	37	2	218940239	218940239	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218940239G>A	ENST00000344321.7	+	9	1542	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.V362I	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	342							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGGAGTCACGTCCAGAGGCT	0.617																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1084-1086)Gtc>Atc		RUN and FYVE domain containing 4							35.0	41.0	39.0					2																	218940239		2047	4213	6260	SO:0001583	missense	285180						metal ion binding	g.chr2:218940239G>A	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1024G>A	2.37:g.218940239G>A	ENSP00000345900:p.Val342Ile					RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.V342I	p.V362I			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1494	+		Renal(207;0.0915)	342					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1084G>A		.	.	.	.	.	.	.	.	.	.	G	2.574	-0.299018	0.05532	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.47869	1.49;0.83	4.57	2.73	0.32206	.	1.603700	0.03841	N	0.270627	T	0.33962	0.0881	L	0.27053	0.805	0.09310	N	1	B	0.24882	0.113	B	0.11329	0.006	T	0.17379	-1.0371	10	0.20519	T	0.43	-0.0665	6.2044	0.20593	0.2343:0.0:0.7657:0.0	.	342	Q6ZNE9	RUFY4_HUMAN	I	342;362	ENSP00000345900:V342I;ENSP00000363270:V362I	ENSP00000345900:V342I	V	+	1	0	RUFY4	218648484	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.127000	0.10547	0.511000	0.28236	0.467000	0.42956	GTC		0.617	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	7	0	0	0	1	0	7	7				
HLTF	6596	broad.mit.edu	37	3	148777552	148777552	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148777552G>C	ENST00000310053.5	-	13	1521	c.1328C>G	c.(1327-1329)gCa>gGa	p.A443G	HLTF_ENST00000392912.2_Missense_Mutation_p.A443G|HLTF_ENST00000494055.1_Missense_Mutation_p.A443G|HLTF_ENST00000465259.1_Missense_Mutation_p.A442G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	443	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAGTTAATGCACATGCAAA	0.303																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1327-1329)gCa>gGa		helicase-like transcription factor							95.0	102.0	99.0					3																	148777552		2203	4290	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148777552G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1328C>G	3.37:g.148777552G>C	ENSP00000308944:p.Ala443Gly					HLTF_ENST00000494055.1_Missense_Mutation_p.A443G|HLTF_ENST00000392912.2_Missense_Mutation_p.A443G|HLTF_ENST00000465259.1_Missense_Mutation_p.A442G	p.A443G	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	1521	-			443			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1328C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109361	0.20714	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117	D;D;D;D	0.90197	-2.63;-2.61;-2.61;-2.61	5.29	5.29	0.74685	DEAD-like helicase (2);	.	.	.	.	D	0.86802	0.6020	L	0.42245	1.32	0.40962	D	0.984631	B;B;B	0.20887	0.039;0.049;0.018	B;B;B	0.27715	0.045;0.082;0.039	T	0.82778	-0.0289	9	0.33940	T	0.23	-10.3943	11.5146	0.50513	0.0:0.0:0.8208:0.1792	.	443;443;443	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	G	442;443;443;443;440	ENSP00000420745:A442G;ENSP00000308944:A443G;ENSP00000376644:A443G;ENSP00000420429:A443G	ENSP00000308944:A443G	A	-	2	0	HLTF	150260242	1.000000	0.71417	0.997000	0.53966	0.116000	0.19942	3.028000	0.49705	2.454000	0.82982	0.655000	0.94253	GCA		0.303	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			20	39	0	0	0	1	0	20	39				
LAMB1	3912	broad.mit.edu	37	7	107602081	107602081	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107602081C>T	ENST00000222399.6	-	16	2128	c.1898G>A	c.(1897-1899)cGa>cAa	p.R633Q	LAMB1_ENST00000393561.1_Missense_Mutation_p.R657Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.R633Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	633	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCTTCCAGGTCGCTGCACTGT	0.478																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1969-1971)cGa>cAa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129.0	110.0	117.0					7																	107602081		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107602081C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1898G>A	7.37:g.107602081C>T	ENSP00000222399:p.Arg633Gln					LAMB1_ENST00000222399.6_Missense_Mutation_p.R633Q|LAMB1_ENST00000393560.1_Missense_Mutation_p.R633Q	p.R657Q			P07942	LAMB1_HUMAN			14	2154	-			633			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1970G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893243	0.91889	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39406	1.34;1.35;1.08	5.35	5.35	0.76521	Laminin IV (1);	.	.	.	.	T	0.67449	0.2894	M	0.81179	2.53	0.80722	D	1	D;P;D	0.89917	1.0;0.881;1.0	D;B;D	0.69307	0.922;0.221;0.963	T	0.71034	-0.4709	9	0.59425	D	0.04	.	19.0628	0.93100	0.0:1.0:0.0:0.0	.	633;633;657	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Q	657;633;633	ENSP00000377191:R657Q;ENSP00000222399:R633Q;ENSP00000377190:R633Q	ENSP00000222399:R633Q	R	-	2	0	LAMB1	107389317	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.499000	0.84300	0.467000	0.42956	CGA		0.478	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		22	35	0	0	0	1	0	22	35				
MOB3A	126308	broad.mit.edu	37	19	2078368	2078368	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2078368G>A	ENST00000357066.3	-	3	571	c.192C>T	c.(190-192)caC>caT	p.H64H	MOB3A_ENST00000592280.1_Silent_p.H64H|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	64						intracellular (GO:0005622)	metal ion binding (GO:0046872)										AGTCCACCACGTGAACAGCCA	0.657																																						ENST00000357066.3																			0											c.(190-192)caC>caT		MOB kinase activator 3A							88.0	80.0	82.0					19																	2078368		2203	4300	6503	SO:0001819	synonymous_variant	126308					intracellular	metal ion binding	g.chr19:2078368G>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.192C>T	19.37:g.2078368G>A						MOB3A_ENST00000592280.1_Silent_p.H64H|MOB3A_ENST00000592143.1_Intron	p.H64H	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			3	571	-			64					B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	c.192C>T	CCDS12081.1																																																																																				0.657	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		19	30	0	0	0	1	0	19	30				
TRAF2	7186	broad.mit.edu	37	9	139820270	139820270	+	Missense_Mutation	SNP	G	G	A	rs148765924		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139820270G>A	ENST00000247668.2	+	11	1475	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	TRAF2_ENST00000359662.3_Missense_Mutation_p.V527I|TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	475	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTTCTGCCCCGTCTCCAAGAT	0.567																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1579-1581)Gtc>Atc		TNF receptor-associated factor 2		G	ILE/VAL	0,4406		0,0,2203	80.0	68.0	72.0		1423	1.7	0.9	9	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAF2	NM_021138.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/502	139820270	1,13005	2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139820270G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1423G>A	9.37:g.139820270G>A	ENSP00000247668:p.Val475Ile					TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I|TRAF2_ENST00000247668.2_Missense_Mutation_p.V475I	p.V527I			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	11	1624	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	475					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1579G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441759	0.43326	0.0	1.16E-4	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.42513	0.97;0.97;0.97	4.52	1.7	0.24286	TRAF-type (1);TRAF-like (1);MATH (3);	0.133902	0.50627	N	0.000103	T	0.20901	0.0503	N	0.12182	0.205	0.42919	D	0.99428	P;P;B	0.40534	0.546;0.72;0.191	B;B;B	0.36534	0.144;0.227;0.037	T	0.03325	-1.1048	10	0.32370	T	0.25	-44.1988	8.9616	0.35851	0.2434:0.0:0.7566:0.0	.	464;450;475	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	I	475;474;475;527;396	ENSP00000446414:V475I;ENSP00000247668:V475I;ENSP00000352685:V527I	ENSP00000247668:V475I	V	+	1	0	TRAF2	138940091	0.998000	0.40836	0.908000	0.35775	0.977000	0.68977	3.022000	0.49659	0.193000	0.20303	-0.291000	0.09656	GTC		0.567	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		17	27	0	0	0	1	0	17	27				
SSTR1	6751	broad.mit.edu	37	14	38679094	38679094	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38679094G>A	ENST00000267377.2	+	3	1117	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	167					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AAGGCGGCCCGCTACCGCCGG	0.642																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(499-501)cGc>cAc		somatostatin receptor 1	Octreotide(DB00104)						68.0	69.0	68.0					14																	38679094		2203	4299	6502	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679094G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.500G>A	14.37:g.38679094G>A	ENSP00000267377:p.Arg167His						p.R167H	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1117	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167						Missense_Mutation	SNP	ENST00000267377.2	37	c.500G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472056	0.63737	.	.	ENSG00000139874	ENST00000267377	T	0.39787	1.06	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000028	T	0.40196	0.1107	M	0.63169	1.94	0.50632	D	0.999887	P	0.43231	0.801	B	0.33690	0.168	T	0.52419	-0.8578	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	167	P30872	SSR1_HUMAN	H	167	ENSP00000267377:R167H	ENSP00000267377:R167H	R	+	2	0	SSTR1	37748845	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	4.166000	0.58203	2.514000	0.84764	0.561000	0.74099	CGC		0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			25	37	0	0	0	1	0	25	37				
RMND1	55005	broad.mit.edu	37	6	151766709	151766709	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151766709G>A	ENST00000367303.4	-	2	360	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	80					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AATGGAGACAGCATGCTGGTA	0.423																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(238-240)Ctg>Ttg		required for meiotic nuclear division 1 homolog (S. cerevisiae)							206.0	192.0	197.0					6																	151766709		2203	4300	6503	SO:0001819	synonymous_variant	55005							g.chr6:151766709G>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.238C>T	6.37:g.151766709G>A						RMND1_ENST00000491268.1_5'UTR	p.L80L	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	360	-		Ovarian(120;0.125)	80					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	c.238C>T	CCDS5232.1																																																																																				0.423	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		13	129	0	0	0	1	0	13	129				
IPO5	3843	broad.mit.edu	37	13	98660391	98660391	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98660391C>T	ENST00000490680.1	+	15	1860	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	IPO5_ENST00000261574.5_Missense_Mutation_p.P617S|IPO5_ENST00000539640.1_Missense_Mutation_p.P474S			O00410	IPO5_HUMAN	importin 5	599					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGATGATGATCCTCAGGTAAG	0.383																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1849-1851)Cct>Tct		importin 5							170.0	156.0	161.0					13																	98660391		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98660391C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1795C>T	13.37:g.98660391C>T	ENSP00000418393:p.Pro599Ser					IPO5_ENST00000539640.1_Missense_Mutation_p.P474S|IPO5_ENST00000490680.1_Missense_Mutation_p.P599S	p.P617S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			18	2029	+			599					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1849C>T		.	.	.	.	.	.	.	.	.	.	C	28.0	4.877531	0.91664	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.84433	2.695	0.80722	D	1	P;P;P	0.50443	0.935;0.468;0.846	P;B;B	0.47705	0.555;0.234;0.412	T	0.51012	-0.8759	10	0.72032	D	0.01	-16.8374	18.7784	0.91922	0.0:1.0:0.0:0.0	.	474;599;617	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	S	617;599;599;474	ENSP00000261574:P617S;ENSP00000350219:P599S;ENSP00000418393:P599S;ENSP00000445126:P474S	ENSP00000261574:P617S	P	+	1	0	IPO5	97458392	1.000000	0.71417	0.989000	0.46669	0.908000	0.53690	7.351000	0.79395	2.594000	0.87642	0.563000	0.77884	CCT		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		14	26	0	0	0	1	0	14	26				
LYPLA2	11313	broad.mit.edu	37	1	24122731	24122731	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24122731G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.R300W|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCACCTTCCCGCCGTGCCACC	0.617																																						ENST00000374497.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(898-900)Cgg>Tgg		UDP-galactose-4-epimerase							62.0	59.0	60.0					1																	24122731		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24122731G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24122731G>A							p.R300W	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	11	989	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	300					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.898C>T	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419684	0.83559	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000456977;ENST00000429356	D;D;D	0.95238	-3.65;-3.65;-3.65	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97965	1.0340	10	0.87932	D	0	-22.8272	10.6764	0.45789	0.0:0.1422:0.7104:0.1474	.	226;300;300	B3KQ39;Q38G75;Q14376	.;.;GALE_HUMAN	W	210;300;60;210	ENSP00000363621:R300W;ENSP00000397045:R60W;ENSP00000398585:R210W	ENSP00000363621:R300W	R	-	1	2	GALE	23995318	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	1.765000	0.38481	2.540000	0.85666	0.462000	0.41574	CGG		0.617	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			18	21	0	0	0	1	0	18	21				
PFN2	5217	broad.mit.edu	37	3	149686268	149686268	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:149686268C>T	ENST00000239940.7	-	2	454	c.202G>A	c.(202-204)Gcg>Acg	p.A68T	PFN2_ENST00000498307.1_Missense_Mutation_p.A19T|PFN2_ENST00000423691.2_Missense_Mutation_p.A68T|PFN2_ENST00000461868.1_Missense_Mutation_p.A68T|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481275.1_Missense_Mutation_p.A19T|PFN2_ENST00000452853.2_Missense_Mutation_p.A68T|PFN2_ENST00000489155.1_Missense_Mutation_p.A19T|PFN2_ENST00000494827.1_Missense_Mutation_p.A19T|PFN2_ENST00000497148.1_Missense_Mutation_p.A19T|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000475518.1_Missense_Mutation_p.A19T|PFN2_ENST00000481767.1_Missense_Mutation_p.A19T|PFN2_ENST00000490975.1_Missense_Mutation_p.A68T			P35080	PROF2_HUMAN	profilin 2	68					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATTTCTTCGCGCCAAGAGTC	0.438																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(202-204)Gcg>Acg		profilin 2							201.0	211.0	208.0					3																	149686268		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686268C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.202G>A	3.37:g.149686268C>T	ENSP00000239940:p.Ala68Thr					PFN2_ENST00000489155.1_Missense_Mutation_p.A19T|PFN2_ENST00000494827.1_Missense_Mutation_p.A19T|PFN2_ENST00000497148.1_Missense_Mutation_p.A19T|PFN2_ENST00000481275.1_Missense_Mutation_p.A19T|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000423691.2_Missense_Mutation_p.A68T|PFN2_ENST00000490975.1_Missense_Mutation_p.A68T|PFN2_ENST00000475518.1_Missense_Mutation_p.A19T|PFN2_ENST00000461868.1_Missense_Mutation_p.A68T|PFN2_ENST00000481767.1_Missense_Mutation_p.A19T|PFN2_ENST00000498307.1_Missense_Mutation_p.A19T|PFN2_ENST00000452853.2_Missense_Mutation_p.A68T	p.A68T			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	454	-			68					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.202G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.261427	0.59431	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.28	5.28	0.74379	.	0.501209	0.23116	N	0.051748	T	0.73497	0.3594	N	0.08118	0	0.33740	D	0.61926	P;P;B;B	0.50156	0.733;0.932;0.341;0.319	B;B;B;B	0.38755	0.034;0.281;0.023;0.056	D	0.83385	0.0014	10	0.87932	D	0	.	18.9045	0.92455	0.0:1.0:0.0:0.0	.	68;262;68;19	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	T	68;68;68;19;19;68;19;19;19;19;19;68	ENSP00000410464:A68T;ENSP00000239940:A68T;ENSP00000408283:A68T;ENSP00000420417:A19T;ENSP00000418523:A19T;ENSP00000417351:A68T;ENSP00000417817:A19T;ENSP00000418142:A19T;ENSP00000418216:A19T;ENSP00000420202:A19T;ENSP00000420504:A19T;ENSP00000420244:A68T	ENSP00000239940:A68T	A	-	1	0	PFN2	151168958	0.998000	0.40836	0.992000	0.48379	0.807000	0.45602	2.803000	0.47924	2.444000	0.82710	0.655000	0.94253	GCG		0.438	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		67	98	0	0	0	1	0	67	98				
DCDC1	341019	broad.mit.edu	37	11	30930565	30930565	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:30930565C>A	ENST00000597505.1	-	27	3845	c.3846G>T	c.(3844-3846)aaG>aaT	p.K1282N	DCDC1_ENST00000339794.5_Missense_Mutation_p.K361N|DCDC1_ENST00000406071.2_Missense_Mutation_p.K17N			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.K361N(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGTAATTTCCTTATCCAAGG	0.368																																						ENST00000597505.1																			2	Substitution - Missense(2)	p.K361N(2)	lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3844-3846)aaG>aaT		doublecortin domain containing 1							100.0	91.0	94.0					11																	30930565		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30930565C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3846G>T	11.37:g.30930565C>A	ENSP00000472625:p.Lys1282Asn					DCDC1_ENST00000406071.2_Missense_Mutation_p.K17N|DCDC1_ENST00000339794.5_Missense_Mutation_p.K361N	p.K1282N			P59894	DCDC1_HUMAN			27	3845	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.3846G>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.427429	0.43122	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	T	0.39229	1.09	5.3	3.32	0.38043	.	0.322809	0.26362	N	0.024813	T	0.35856	0.0946	M	0.66939	2.045	0.24389	N	0.99476	P	0.44877	0.845	B	0.38803	0.282	T	0.42103	-0.9471	10	0.66056	D	0.02	-6.4556	5.4937	0.16791	0.1615:0.6635:0.0:0.175	.	361	Q6ZRR9	DCDC5_HUMAN	N	17;361	ENSP00000341700:K361N	ENSP00000341700:K361N	K	-	3	2	DCDC5	30887141	0.998000	0.40836	1.000000	0.80357	0.310000	0.27922	0.364000	0.20325	1.382000	0.46385	0.655000	0.94253	AAG		0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		24	33	1	0	9.04412e-07	1	9.43082e-07	24	33				
IL17RD	54756	broad.mit.edu	37	3	57131715	57131715	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57131715G>A	ENST00000296318.7	-	12	2104	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	IL17RD_ENST00000463523.1_Silent_p.S528S|IL17RD_ENST00000320057.5_Silent_p.S528S|IL17RD_ENST00000427856.2_Silent_p.S648S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	672					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAGACAGCTCGGATGAGGGCA	0.627																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(2014-2016)tcC>tcT		interleukin 17 receptor D							42.0	36.0	38.0					3																	57131715		2203	4299	6502	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131715G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2016C>T	3.37:g.57131715G>A						IL17RD_ENST00000320057.5_Silent_p.S528S|IL17RD_ENST00000463523.1_Silent_p.S528S|IL17RD_ENST00000427856.2_Silent_p.S648S	p.S672S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	2104	-			672					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.2016C>T	CCDS2880.2																																																																																				0.627	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		8	8	0	0	0	1	0	8	8				
ATIC	471	broad.mit.edu	37	2	216211645	216211645	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216211645T>C	ENST00000236959.9	+	14	1810	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A	ATIC_ENST00000435675.1_Missense_Mutation_p.V494A|ATIC_ENST00000540518.1_Missense_Mutation_p.V436A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	495					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GATCAATATGTGACTGGAACC	0.418			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1480-1482)gTg>gCg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						142.0	133.0	136.0					2																	216211645		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216211645T>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1484T>C	2.37:g.216211645T>C	ENSP00000236959:p.Val495Ala					ATIC_ENST00000236959.9_Missense_Mutation_p.V495A|ATIC_ENST00000540518.1_Missense_Mutation_p.V436A	p.V494A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	13	1872	+		Renal(323;0.229)	495					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1481T>C	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651734	0.88056	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	T;T;T	0.77098	-1.07;-1.07;-1.07	5.86	5.86	0.93980	AICAR transformylase, insert domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	L	0.55017	1.72	0.80722	D	1	D;D	0.59767	0.986;0.96	D;P	0.63703	0.917;0.877	D	0.86216	0.1628	10	0.87932	D	0	-28.664	16.5602	0.84551	0.0:0.0:0.0:1.0	.	494;495	E9PBU3;P31939	.;PUR9_HUMAN	A	495;436;494	ENSP00000236959:V495A;ENSP00000440523:V436A;ENSP00000415935:V494A	ENSP00000236959:V495A	V	+	2	0	ATIC	215919890	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.939000	0.87685	2.367000	0.80283	0.528000	0.53228	GTG		0.418	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		12	17	0	0	0	1	0	12	17				
BBS12	166379	broad.mit.edu	37	4	123664604	123664604	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123664604C>T	ENST00000314218.3	+	2	1750	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	BBS12_ENST00000542236.1_Silent_p.F519F	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	519					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGATAGGTTCTGGACATGTG	0.393									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1555-1557)ttC>ttT		Bardet-Biedl syndrome 12							125.0	124.0	125.0					4																	123664604		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664604C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1557C>T	4.37:g.123664604C>T						BBS12_ENST00000314218.3_Silent_p.F519F	p.F519F	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1938	+			519					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.1557C>T	CCDS3728.1																																																																																				0.393	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		20	62	0	0	0	1	0	20	62				
PTGER4	5734	broad.mit.edu	37	5	40691949	40691949	+	Silent	SNP	G	G	A	rs190040616	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40691949G>A	ENST00000302472.3	+	3	1960	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	ATCCAGATTTGCAGGCCATCC	0.428													G|||	5	0.000998403	0.0	0.0	5008	,	,		19570	0.0		0.005	False		,,,				2504	0.0					ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(934-936)ttG>ttA		prostaglandin E receptor 4 (subtype EP4)		G		0,4406		0,0,2203	115.0	115.0	115.0		936	5.6	1.0	5		115	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	PTGER4	NM_000958.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		312/489	40691949	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40691949G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.936G>A	5.37:g.40691949G>A							p.L312L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			3	1960	+			312					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.936G>A	CCDS3930.1																																																																																				0.428	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		5	101	0	0	0	1	0	5	101				
MEF2D	4209	broad.mit.edu	37	1	156444988	156444988	+	Silent	SNP	C	C	T	rs200731594		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156444988C>T	ENST00000348159.4	-	9	1398	c.918G>A	c.(916-918)tcG>tcA	p.S306S	MEF2D_ENST00000340875.5_Silent_p.S305S|MEF2D_ENST00000360595.3_Silent_p.S299S|MEF2D_ENST00000464356.2_Silent_p.S298S|MEF2D_ENST00000368240.2_Silent_p.S299S|MEF2D_ENST00000353795.3_Silent_p.S260S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	306					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTGGTGAGCGAATGAGTAG	0.567																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(916-918)tcG>tcA		myocyte enhancer factor 2D							92.0	83.0	86.0					1																	156444988		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156444988C>T	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.918G>A	1.37:g.156444988C>T						MEF2D_ENST00000360595.3_Silent_p.S299S|MEF2D_ENST00000340875.5_Silent_p.S305S|MEF2D_ENST00000353795.3_Silent_p.S260S|MEF2D_ENST00000368240.2_Silent_p.S299S|MEF2D_ENST00000464356.1_Intron	p.S306S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			9	1398	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		306					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.918G>A	CCDS1143.1																																																																																				0.567	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		14	27	0	0	0	1	0	14	27				
KIAA1377	57562	broad.mit.edu	37	11	101828970	101828970	+	Missense_Mutation	SNP	A	A	G	rs146349473		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:101828970A>G	ENST00000263468.8	+	5	848	c.578A>G	c.(577-579)aAa>aGa	p.K193R	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	193										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTCTTATCCAAAATCAATTGT	0.383																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(577-579)aAa>aGa		KIAA1377		A	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	184.0	198.0	194.0		578	1.7	0.0	11	dbSNP_134	194	4,8594	3.7+/-12.6	0,4,4295	yes	missense	KIAA1377	NM_020802.2	26	0,5,6497	GG,GA,AA		0.0465,0.0227,0.0384	benign	193/1118	101828970	5,12999	2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101828970A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.578A>G	11.37:g.101828970A>G	ENSP00000263468:p.Lys193Arg					KIAA1377_ENST00000537689.1_5'UTR	p.K193R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	848	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	193					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.578A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.711744	0.00712	2.27E-4	4.65E-4	ENSG00000110318	ENST00000263468	T	0.07800	3.16	5.68	1.7	0.24286	.	0.724500	0.13182	N	0.407416	T	0.05044	0.0135	N	0.20986	0.625	0.09310	N	0.999993	B	0.02656	0.0	B	0.06405	0.002	T	0.47156	-0.9139	10	0.12766	T	0.61	-7.4437	7.3174	0.26507	0.6476:0.1174:0.235:0.0	.	193	Q9P2H0	K1377_HUMAN	R	193	ENSP00000263468:K193R	ENSP00000263468:K193R	K	+	2	0	KIAA1377	101334180	0.159000	0.22864	0.020000	0.16555	0.041000	0.13682	0.478000	0.22212	0.106000	0.17784	-1.162000	0.01777	AAA		0.383	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		90	140	0	0	0	1	0	90	140				
CEP170	9859	broad.mit.edu	37	1	243328145	243328145	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243328145A>G	ENST00000366542.1	-	13	3168	c.3117T>C	c.(3115-3117)atT>atC	p.I1039I	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Silent_p.I941I|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Silent_p.I941I|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1039	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGATGACATAATATCAGAGA	0.418																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3115-3117)atT>atC		centrosomal protein 170kDa							46.0	45.0	45.0					1																	243328145		1816	4072	5888	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243328145A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3117T>C	1.37:g.243328145A>G						CEP170_ENST00000366544.1_Silent_p.I941I|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.I941I	p.I1039I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3168	-	all_neural(11;0.101)	all_cancers(173;0.003)	1039			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3117T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	6.026	0.373110	0.11409	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.15	1.6	0.23607	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45556	-0.9253	4	.	.	.	-8.5563	7.5999	0.28069	0.6567:0.0:0.3433:0.0	.	.	.	.	S	1003	.	.	L	-	2	0	CEP170	241394768	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.736000	0.26130	0.293000	0.22520	0.454000	0.30748	TTA		0.418	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		14	34	0	0	0	1	0	14	34				
PPP1R12C	54776	broad.mit.edu	37	19	55623925	55623925	+	Missense_Mutation	SNP	C	C	T	rs139818172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55623925C>T	ENST00000263433.3	-	3	496	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A161T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A87T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TTGACGGCGGCGATGTTGGCC	0.726																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(481-483)Gcc>Acc		protein phosphatase 1, regulatory subunit 12C		C	THR/ALA	0,4406		0,0,2203	25.0	30.0	28.0		481	4.1	0.7	19	dbSNP_134	28	2,8592	2.2+/-6.3	0,2,4295	yes	missense	PPP1R12C	NM_017607.2	58	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	161/783	55623925	2,12998	2203	4297	6500	SO:0001583	missense	54776					cytoplasm		g.chr19:55623925C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.481G>A	19.37:g.55623925C>T	ENSP00000263433:p.Ala161Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A87T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A161T	p.A161T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	496	-			161						Missense_Mutation	SNP	ENST00000263433.3	37	c.481G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612455	0.87258	0.0	2.33E-4	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52295	0.67;0.67;0.67	5.24	4.13	0.48395	Ankyrin repeat-containing domain (4);	0.309877	0.29410	N	0.012226	T	0.40522	0.1120	N	0.03154	-0.405	0.46749	D	0.999189	D;D;D	0.76494	0.999;0.998;0.999	D;P;P	0.65573	0.936;0.815;0.884	T	0.32428	-0.9907	10	0.22109	T	0.4	.	13.3308	0.60485	0.0:0.8401:0.1599:0.0	.	87;161;161	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	161;161;87	ENSP00000263433:A161T;ENSP00000365573:A161T;ENSP00000387833:A87T	ENSP00000263433:A161T	A	-	1	0	PPP1R12C	60315737	0.231000	0.23751	0.715000	0.30552	0.958000	0.62258	1.087000	0.30865	2.633000	0.89246	0.561000	0.74099	GCC		0.726	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		21	12	0	0	0	1	0	21	12				
CSMD2	114784	broad.mit.edu	37	1	34209135	34209135	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34209135T>C	ENST00000373381.4	-	14	2095	c.1919A>G	c.(1918-1920)aAc>aGc	p.N640S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	600	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGGAGGTGGTTGCCATAGTC	0.567																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1918-1920)aAc>aGc		CUB and Sushi multiple domains 2							76.0	79.0	78.0					1																	34209135		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209135T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1919A>G	1.37:g.34209135T>C	ENSP00000362479:p.Asn640Ser						p.N640S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			14	2095	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	600			CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1919A>G		.	.	.	.	.	.	.	.	.	.	T	16.43	3.121146	0.56613	.	.	ENSG00000121904	ENST00000373381	T	0.35973	1.28	5.58	5.58	0.84498	CUB (5);	0.050854	0.85682	D	0.000000	T	0.29423	0.0733	L	0.46819	1.47	0.80722	D	1	B;B	0.30068	0.267;0.164	B;B	0.34931	0.192;0.192	T	0.05971	-1.0853	10	0.07030	T	0.85	.	9.6048	0.39626	0.0:0.0861:0.0:0.9139	.	600;640	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	640	ENSP00000362479:N640S	ENSP00000241312:N600S	N	-	2	0	CSMD2	33981722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.109000	0.57824	2.246000	0.74042	0.533000	0.62120	AAC		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	29	0	0	0	1	0	19	29				
APLP2	334	broad.mit.edu	37	11	129993594	129993594	+	Missense_Mutation	SNP	G	G	A	rs542688342		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129993594G>A	ENST00000263574.5	+	7	1082	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	APLP2_ENST00000338167.5_Missense_Mutation_p.R337H|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.R347H|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.R244H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	337	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AAGTGCGTGCGCTTTATATAT	0.552																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1009-1011)cGc>cAc		amyloid beta (A4) precursor-like protein 2							129.0	124.0	126.0					11																	129993594		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993594G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1010G>A	11.37:g.129993594G>A	ENSP00000263574:p.Arg337His					APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.R337H|APLP2_ENST00000278756.7_Missense_Mutation_p.R347H|APLP2_ENST00000543137.1_Missense_Mutation_p.R244H	p.R337H	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1082	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	337			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1010G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327433	0.81690	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.87	4.97	0.65823	Proteinase inhibitor I2, Kunitz metazoa (6);	0.099805	0.64402	N	0.000001	T	0.59702	0.2213	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.966	T	0.60414	-0.7268	10	0.41790	T	0.15	-18.4778	14.0675	0.64839	0.0717:0.0:0.9283:0.0	.	337;337	Q06481;Q06481-3	APLP2_HUMAN;.	H	337;337;347;244	ENSP00000263574:R337H;ENSP00000345444:R337H;ENSP00000278756:R347H;ENSP00000444122:R244H	ENSP00000263574:R337H	R	+	2	0	APLP2	129498804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.672000	0.46850	1.495000	0.48549	0.650000	0.86243	CGC		0.552	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		38	51	0	0	0	1	0	38	51				
CHST15	51363	broad.mit.edu	37	10	125801957	125801957	+	Missense_Mutation	SNP	A	A	G	rs375906303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125801957A>G	ENST00000346248.5	-	4	1535	c.893T>C	c.(892-894)gTc>gCc	p.V298A	CHST15_ENST00000421115.1_Missense_Mutation_p.V298A|CHST15_ENST00000435907.1_Missense_Mutation_p.V298A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	298					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTTAGGCGGACGATTCCTAT	0.547																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(892-894)gTc>gCc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		A	ALA/VAL,ALA/VAL	0,4406		0,0,2203	77.0	68.0	71.0		893,893	5.7	1.0	10		71	1,8599		0,1,4299	no	missense,missense	CHST15	NM_014863.2,NM_015892.3	64,64	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	298/507,298/562	125801957	1,13005	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125801957A>G	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.893T>C	10.37:g.125801957A>G	ENSP00000333947:p.Val298Ala					CHST15_ENST00000421115.1_Missense_Mutation_p.V298A|CHST15_ENST00000435907.1_Missense_Mutation_p.V298A	p.V298A	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			4	1535	-			298					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.893T>C	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478994	0.63849	0.0	1.16E-4	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.72	5.72	0.89469	Sulfotransferase domain (1);	0.055138	0.64402	D	0.000002	T	0.37320	0.0999	N	0.17082	0.46	0.42940	D	0.994344	P;B	0.36837	0.571;0.151	B;B	0.33392	0.163;0.076	T	0.30060	-0.9991	9	0.36615	T	0.2	-50.6298	16.0205	0.80486	1.0:0.0:0.0:0.0	.	298;298	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	A	298	.	ENSP00000333947:V298A	V	-	2	0	CHST15	125791947	1.000000	0.71417	0.993000	0.49108	0.704000	0.40688	6.766000	0.74970	2.194000	0.70268	0.533000	0.62120	GTC		0.547	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		17	13	0	0	0	1	0	17	13				
SRMS	6725	broad.mit.edu	37	20	62173545	62173545	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62173545C>T	ENST00000217188.1	-	5	957	c.917G>A	c.(916-918)cGc>cAc	p.R306H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTTCCCCTTGCGCATGAGTTC	0.682																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(916-918)cGc>cAc		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							94.0	74.0	81.0					20																	62173545		2200	4300	6500	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62173545C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.917G>A	20.37:g.62173545C>T	ENSP00000217188:p.Arg306His						p.R306H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		5	957	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		306			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.917G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577223	0.45902	.	.	ENSG00000125508	ENST00000217188	T	0.11495	2.77	4.62	3.67	0.42095	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.356310	0.22531	N	0.058851	T	0.12135	0.0295	N	0.20685	0.6	0.22050	N	0.999394	D	0.58620	0.983	P	0.54706	0.759	T	0.06899	-1.0801	10	0.52906	T	0.07	.	8.2596	0.31777	0.0:0.7576:0.1567:0.0857	.	306	Q9H3Y6	SRMS_HUMAN	H	306	ENSP00000217188:R306H	ENSP00000217188:R306H	R	-	2	0	SRMS	61643989	0.923000	0.31300	0.991000	0.47740	0.120000	0.20174	1.564000	0.36375	0.942000	0.37525	-0.258000	0.10820	CGC		0.682	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		6	22	0	0	0	1	0	6	22				
SPOCK3	50859	broad.mit.edu	37	4	167833895	167833895	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:167833895C>A	ENST00000357154.3	-	6	497		c.e6-1		SPOCK3_ENST00000511531.1_Splice_Site|SPOCK3_ENST00000541354.1_Splice_Site|SPOCK3_ENST00000504953.1_Splice_Site|SPOCK3_ENST00000421836.2_Splice_Site|SPOCK3_ENST00000507137.1_Splice_Site|SPOCK3_ENST00000357545.4_Splice_Site|SPOCK3_ENST00000512648.1_Splice_Site|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000534949.1_Splice_Site|SPOCK3_ENST00000506886.1_Splice_Site|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000510741.1_Splice_Site|SPOCK3_ENST00000511269.1_Splice_Site|SPOCK3_ENST00000535728.1_Splice_Site|SPOCK3_ENST00000502330.1_Splice_Site	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3						negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTTTCATCCTGTTAAAAAA	0.408																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.e6-1		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							80.0	79.0	79.0					4																	167833895		2202	4300	6502	SO:0001630	splice_region_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167833895C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.360-1G>T	4.37:g.167833895C>A						SPOCK3_ENST00000506886.1_Splice_Site|SPOCK3_ENST00000421836.2_Splice_Site|SPOCK3_ENST00000502330.1_Splice_Site|SPOCK3_ENST00000507137.1_Splice_Site|SPOCK3_ENST00000510741.1_Splice_Site|SPOCK3_ENST00000504953.1_Splice_Site|SPOCK3_ENST00000541354.1_Splice_Site|SPOCK3_ENST00000534949.1_Splice_Site|SPOCK3_ENST00000535728.1_Splice_Site|SPOCK3_ENST00000511531.1_Splice_Site|SPOCK3_ENST00000511269.1_Splice_Site|SPOCK3_ENST00000357545.4_Splice_Site|SPOCK3_ENST00000512648.1_Splice_Site|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000512681.1_Intron		NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	6	497	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)						B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Splice_Site	SNP	ENST00000357154.3	37		CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439241	0.25900	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000534949;ENST00000512648;ENST00000509854	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9408	0.86217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOCK3	168070470	1.000000	0.71417	0.976000	0.42696	0.057000	0.15508	5.123000	0.64703	2.599000	0.87857	0.643000	0.83706	.		0.408	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		Intron	12	24	1	0	3.07112e-06	1	3.18879e-06	12	24				
NYAP2	57624	broad.mit.edu	37	2	226446657	226446657	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:226446657C>T	ENST00000272907.6	+	4	937	c.524C>T	c.(523-525)gCg>gTg	p.A175V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	175					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTTCTTTTAGCGTCAGCTAAA	0.403																																						ENST00000272907.6																			0											c.e4-1		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							81.0	83.0	82.0					2																	226446657		1850	4077	5927	SO:0001630	splice_region_variant	57624							g.chr2:226446657C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.524-1C>T	2.37:g.226446657C>T						NYAP2_ENST00000409269.2_Intron	p.A175_splice	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	937	+			175					A2RRN4|Q96NL2	Splice_Site	SNP	ENST00000272907.6	37	c.523_splice	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	0.089	-1.169895	0.01660	.	.	ENSG00000144460	ENST00000272907	T	0.29655	1.56	5.8	3.27	0.37495	.	0.559885	0.16456	N	0.213626	T	0.11367	0.0277	N	0.02368	-0.58	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	9	.	.	.	.	8.6541	0.34053	0.0:0.1287:0.1168:0.7545	.	175	Q9P242	K1486_HUMAN	V	175	ENSP00000272907:A175V	.	A	+	2	0	KIAA1486	226154901	0.980000	0.34600	0.196000	0.23383	0.060000	0.15804	0.696000	0.25541	0.462000	0.27095	-0.275000	0.10095	GCG		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	Missense_Mutation	33	53	0	0	0	1	0	33	53				
MARCH3	115123	broad.mit.edu	37	5	126250790	126250790	+	Silent	SNP	G	G	A	rs140296174	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126250790G>A	ENST00000308660.5	-	3	739	c.225C>T	c.(223-225)caC>caT	p.H75H	MARCH3_ENST00000515241.1_Silent_p.H75H|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	75					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TGCTGCCCTCGTGGCAGATCC	0.592													g|||	8	0.00159744	0.0015	0.0	5008	,	,		14815	0.001		0.0	False		,,,				2504	0.0051					ENST00000308660.5																			0				large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(223-225)caC>caT		membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase		A		4,4402	6.2+/-15.9	0,4,2199	59.0	55.0	57.0		225	-5.9	0.8	5	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	MARCH3	NM_178450.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		75/254	126250790	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126250790G>A	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.225C>T	5.37:g.126250790G>A						MARCH3_ENST00000515241.1_Silent_p.H75H|MARCH3_ENST00000502289.1_5'UTR	p.H75H	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	3	739	-		Prostate(80;0.0928)	75					A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	c.225C>T	CCDS4141.1																																																																																				0.592	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		14	20	0	0	0	1	0	14	20				
KCNH5	27133	broad.mit.edu	37	14	63174354	63174354	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63174354C>T	ENST00000322893.7	-	11	3107	c.2839G>A	c.(2839-2841)Gta>Ata	p.V947I	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	947	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V947L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCTGGGGTACGCTTTTTTCC	0.473																																						ENST00000322893.7																			1	Substitution - Missense(1)	p.V947L(1)	breast(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2839-2841)Gta>Ata		potassium voltage-gated channel, subfamily H (eag-related), member 5							133.0	144.0	140.0					14																	63174354		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174354C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2839G>A	14.37:g.63174354C>T	ENSP00000321427:p.Val947Ile					KCNH5_ENST00000420622.2_3'UTR	p.V947I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3107	-			947			CAD (involved in subunit assembly) (By similarity).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2839G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504859	0.00992	.	.	ENSG00000140015	ENST00000322893	D	0.98849	-5.18	5.66	-4.91	0.03085	.	1.705300	0.02766	N	0.119184	D	0.93455	0.7912	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.21360	0.034	D	0.90823	0.4710	10	0.37606	T	0.19	.	3.6515	0.08205	0.1594:0.3323:0.0786:0.4297	.	947	Q8NCM2	KCNH5_HUMAN	I	947	ENSP00000321427:V947I	ENSP00000321427:V947I	V	-	1	0	KCNH5	62244107	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.234000	0.02931	-0.907000	0.03862	-0.797000	0.03246	GTA		0.473	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		42	88	0	0	0	1	0	42	88				
ATP2C2	9914	broad.mit.edu	37	16	84492742	84492742	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84492742G>T	ENST00000262429.4	+	22	2253	c.2164G>T	c.(2164-2166)Ggc>Tgc	p.G722C	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.G722C|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	722					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGGAGGAAGGCAAGGGTAT	0.542																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2164-2166)Ggc>Tgc		ATPase, Ca++ transporting, type 2C, member 2							87.0	96.0	93.0					16																	84492742		2083	4241	6324	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492742G>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2164G>T	16.37:g.84492742G>T	ENSP00000262429:p.Gly722Cys					ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G722C	p.G722C			O75185	AT2C2_HUMAN			22	2253	+			722					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2164G>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942729	0.73672	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.98028	-4.67;-4.67	4.85	4.85	0.62838	ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99333	0.9766	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98385	1.0560	10	0.87932	D	0	.	17.2991	0.87177	0.0:0.0:1.0:0.0	.	722;571;739;722	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	C	722;722;571	ENSP00000397925:G722C;ENSP00000262429:G722C	ENSP00000262429:G722C	G	+	1	0	ATP2C2	83050243	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.228000	0.95250	2.384000	0.81235	0.561000	0.74099	GGC		0.542	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		26	40	1	0	2.48779e-11	1	2.67617e-11	26	40				
GBX2	2637	broad.mit.edu	37	2	237074856	237074856	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:237074856G>A	ENST00000306318.4	-	2	1145	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	250	Poly-Arg.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCAGTCCGCCGCCGCCGGTTC	0.677																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(748-750)Cgg>Tgg		gastrulation brain homeobox 2							26.0	32.0	30.0					2																	237074856		2202	4296	6498	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074856G>A	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.748C>T	2.37:g.237074856G>A	ENSP00000302251:p.Arg250Trp					GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	p.R250W	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1145	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	250			Poly-Arg.		B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.748C>T	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618475	0.66787	.	.	ENSG00000168505	ENST00000306318	D	0.96459	-4.02	4.42	3.42	0.39159	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97456	1.0031	10	0.72032	D	0.01	-17.8624	14.2498	0.66011	0.0:0.0:0.7416:0.2584	.	250	P52951	GBX2_HUMAN	W	250	ENSP00000302251:R250W	ENSP00000302251:R250W	R	-	1	2	GBX2	236739595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.623000	0.24447	2.013000	0.59113	0.561000	0.74099	CGG		0.677	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		16	27	0	0	0	1	0	16	27				
MTCL1	23255	broad.mit.edu	37	18	8718444	8718444	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8718444C>T	ENST00000306329.11	+	2	1076	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_5'UTR|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000359865.3_5'UTR|SOGA2_ENST00000517570.1_5'UTR																							GAACTCCGTGCTGAGATGGAA	0.448																																						ENST00000306329.11																			0											c.(1075-1077)gCt>gTt		SOGA family member 2							82.0	79.0	80.0					18																	8718444		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8718444C>T																												ENST00000306329.11:c.1076C>T	18.37:g.8718444C>T	ENSP00000305027:p.Ala359Val					SOGA2_ENST00000400050.3_5'UTR|SOGA2_ENST00000359865.3_5'UTR|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_5'UTR	p.A359V			Q9Y4B5	CC165_HUMAN			2	1076	+			350						Missense_Mutation	SNP	ENST00000306329.11	37	c.1076C>T		.	.	.	.	.	.	.	.	.	.	C	17.28	3.348837	0.61183	.	.	ENSG00000168502	ENST00000306329	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	T	0.75744	0.3891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77672	-0.2500	5	0.52906	T	0.07	-10.725	17.9174	0.88955	0.0:1.0:0.0:0.0	.	.	.	.	V	20	.	ENSP00000305027:A20V	A	+	2	0	CCDC165	8708444	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.449000	0.82847	0.563000	0.77884	GCT		0.448	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			10	15	0	0	0	1	0	10	15				
CACNA1G	8913	broad.mit.edu	37	17	48646294	48646294	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48646294G>A	ENST00000359106.5	+	2	306	c.306G>A	c.(304-306)cgG>cgA	p.R102R	CACNA1G_ENST00000514079.1_Silent_p.R102R|CACNA1G_ENST00000513964.1_Silent_p.R102R|CACNA1G_ENST00000507609.1_Silent_p.R102R|CACNA1G_ENST00000354983.4_Silent_p.R102R|CACNA1G_ENST00000513689.2_Silent_p.R102R|CACNA1G_ENST00000429973.2_Silent_p.R102R|CACNA1G_ENST00000360761.4_Silent_p.R102R|CACNA1G_ENST00000416767.4_Silent_p.R102R|CACNA1G_ENST00000507336.1_Silent_p.R102R|CACNA1G_ENST00000358244.5_Silent_p.R102R|CACNA1G_ENST00000512389.1_Silent_p.R102R|CACNA1G_ENST00000510366.1_Silent_p.R102R|CACNA1G_ENST00000352832.5_Silent_p.R102R|CACNA1G_ENST00000514181.1_Silent_p.R102R|CACNA1G_ENST00000503485.1_Silent_p.R102R|CACNA1G_ENST00000442258.2_Silent_p.R102R|CACNA1G_ENST00000507896.1_Silent_p.R102R|CACNA1G_ENST00000505165.1_Silent_p.R102R|CACNA1G_ENST00000502264.1_Silent_p.R102R|CACNA1G_ENST00000514717.1_Silent_p.R102R|CACNA1G_ENST00000507510.2_Silent_p.R102R|CACNA1G_ENST00000515165.1_Silent_p.R102R|CACNA1G_ENST00000510115.1_Silent_p.R102R|CACNA1G_ENST00000515765.1_Silent_p.R102R|CACNA1G_ENST00000515411.1_Silent_p.R102R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	102					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATGTTCCGGCCATGCGAGG	0.577																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(304-306)cgG>cgA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						87.0	86.0	86.0					17																	48646294		2168	4260	6428	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646294G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.306G>A	17.37:g.48646294G>A						CACNA1G_ENST00000513689.2_Silent_p.R102R|CACNA1G_ENST00000507510.2_Silent_p.R102R|CACNA1G_ENST00000512389.1_Silent_p.R102R|CACNA1G_ENST00000514079.1_Silent_p.R102R|CACNA1G_ENST00000510115.1_Silent_p.R102R|CACNA1G_ENST00000510366.1_Silent_p.R102R|CACNA1G_ENST00000515411.1_Silent_p.R102R|CACNA1G_ENST00000515765.1_Silent_p.R102R|CACNA1G_ENST00000507896.1_Silent_p.R102R|CACNA1G_ENST00000503485.1_Silent_p.R102R|CACNA1G_ENST00000358244.5_Silent_p.R102R|CACNA1G_ENST00000513964.1_Silent_p.R102R|CACNA1G_ENST00000505165.1_Silent_p.R102R|CACNA1G_ENST00000515165.1_Silent_p.R102R|CACNA1G_ENST00000442258.2_Silent_p.R102R|CACNA1G_ENST00000360761.4_Silent_p.R102R|CACNA1G_ENST00000502264.1_Silent_p.R102R|CACNA1G_ENST00000514181.1_Silent_p.R102R|CACNA1G_ENST00000507336.1_Silent_p.R102R|CACNA1G_ENST00000507609.1_Silent_p.R102R|CACNA1G_ENST00000359106.5_Silent_p.R102R|CACNA1G_ENST00000514717.1_Silent_p.R102R|CACNA1G_ENST00000429973.2_Silent_p.R102R|CACNA1G_ENST00000354983.4_Silent_p.R102R|CACNA1G_ENST00000416767.4_Silent_p.R102R	p.R102R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		2	678	+	Breast(11;6.7e-17)		102					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.306G>A	CCDS45730.1																																																																																				0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	29	0	0	0	1	0	19	29				
NYAP1	222950	broad.mit.edu	37	7	100087214	100087214	+	Missense_Mutation	SNP	G	G	A	rs137910126		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100087214G>A	ENST00000300179.2	+	4	2029	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	NYAP1_ENST00000423930.1_Missense_Mutation_p.A624T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A567T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	624					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAGGTGGGCGCCGCGACATT	0.632																																						ENST00000423930.1																			0											c.(1870-1872)Gcc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							34.0	35.0	35.0					7																	100087214		2201	4299	6500	SO:0001583	missense	222950							g.chr7:100087214G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1870G>A	7.37:g.100087214G>A	ENSP00000300179:p.Ala624Thr					NYAP1_ENST00000300179.2_Missense_Mutation_p.A624T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A567T	p.A624T			Q6ZVC0	CG051_HUMAN			4	2029	+			624					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1870G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	g	0.033	-1.324332	0.01309	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31510	1.49;1.49;1.49	5.42	2.2	0.27929	.	0.294355	0.24419	N	0.038691	T	0.09730	0.0239	N	0.04203	-0.255	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.10450	0.005;0.005	T	0.35525	-0.9785	10	0.02654	T	1	-11.289	5.358	0.16071	0.1924:0.0:0.6414:0.1662	.	567;624	C9JS30;Q6ZVC0	.;CG051_HUMAN	T	624;624;567	ENSP00000300179:A624T;ENSP00000411861:A624T;ENSP00000394424:A567T	ENSP00000300179:A624T	A	+	1	0	C7orf51	99925150	0.029000	0.19370	0.239000	0.24122	0.073000	0.16967	0.452000	0.21795	0.676000	0.31285	-0.217000	0.12591	GCC		0.632	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		15	32	0	0	0	1	0	15	32				
SLC40A1	30061	broad.mit.edu	37	2	190428735	190428735	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190428735C>T	ENST00000261024.2	-	7	1403	c.977G>A	c.(976-978)tGc>tAc	p.C326Y		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	326			C -> Y (in iron overload). {ECO:0000269|PubMed:15466004}.		anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGTGGTGATGCAGTCAAAGCC	0.498																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	GRCh37	CM042784|CM052917	SLC40A1	M		c.(976-978)tGc>tAc		solute carrier family 40 (iron-regulated transporter), member 1							108.0	87.0	94.0					2																	190428735		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428735C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.977G>A	2.37:g.190428735C>T	ENSP00000261024:p.Cys326Tyr						p.C326Y	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1403	-			326		C -> Y (in iron overload).			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.977G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150084	0.78001	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.94092	-3.35	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	L	0.52126	1.63	0.80722	D	1	P	0.41498	0.752	P	0.47346	0.544	D	0.91009	0.4848	10	0.27785	T	0.31	-23.4963	20.8598	0.99761	0.0:1.0:0.0:0.0	.	326	Q9NP59	S40A1_HUMAN	Y	326;61	ENSP00000261024:C326Y	ENSP00000261024:C326Y	C	-	2	0	SLC40A1	190136980	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.804000	0.85993	2.937000	0.99478	0.650000	0.86243	TGC		0.498	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			3	13	0	0	0	1	0	3	13				
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(892-894)Gca>Aca		sulfatase modifying factor 1							199.0	177.0	185.0					3																	4452611		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452611C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.892G>A	3.37:g.4452611C>T	ENSP00000272902:p.Ala298Thr					SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	927	-		Melanoma(143;0.068)|Colorectal(144;0.233)	298					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.892G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130332	0.37630	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-3.44;-4.51	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.253406	0.45126	D	0.000394	D	0.97536	0.9193	L	0.55743	1.74	0.41894	D	0.990384	D;B;P;P	0.53885	0.963;0.234;0.942;0.646	P;B;P;B	0.52909	0.467;0.076;0.713;0.189	D	0.98198	1.0466	10	0.59425	D	0.04	-33.5749	17.9951	0.89181	0.0:1.0:0.0:0.0	.	166;273;298;298	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	298;298;298;273;166;298	ENSP00000440421:A298T;ENSP00000272902:A298T;ENSP00000373355:A273T;ENSP00000410060:A166T;ENSP00000384977:A298T	ENSP00000272902:A298T	A	-	1	0	SUMF1	4427611	0.981000	0.34729	0.007000	0.13788	0.023000	0.10783	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	GCA		0.423	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		36	60	0	0	0	1	0	36	60				
ZNF775	285971	broad.mit.edu	37	7	150095097	150095097	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150095097G>A	ENST00000329630.5	+	3	1635	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCGGCCGCGGCTTCAGCCA	0.721																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1528-1530)Ggc>Agc		zinc finger protein 775							6.0	8.0	7.0					7																	150095097		2099	4156	6255	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150095097G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1528G>A	7.37:g.150095097G>A	ENSP00000330838:p.Gly510Ser						p.G510S	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1635	+	Ovarian(565;0.183)|Melanoma(164;0.226)		510					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.1528G>A	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798217	0.50208	.	.	ENSG00000196456	ENST00000329630	T	0.16324	2.35	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.02247	-0.625	0.27085	N	0.962995	P	0.48834	0.916	B	0.39379	0.298	T	0.06409	-1.0828	8	.	.	.	.	7.8567	0.29487	0.1104:0.0:0.8896:0.0	.	510	Q96BV0	ZN775_HUMAN	S	510	ENSP00000330838:G510S	.	G	+	1	0	ZNF775	149726030	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	-0.293000	0.08320	2.190000	0.69967	0.563000	0.77884	GGC		0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		4	5	0	0	0	1	0	4	5				
MAX	4149	broad.mit.edu	37	14	65550920	65550920	+	Intron	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65550920T>C	ENST00000358664.4	-	4	302				MAX_ENST00000556979.1_Intron|MAX_ENST00000246163.2_Missense_Mutation_p.K90R|MAX_ENST00000358402.4_Intron|MAX_ENST00000284165.6_Intron|MAX_ENST00000556443.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000557277.1_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTCTTTTTTCTTGTGCACTTG	0.388																																						ENST00000246163.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(268-270)aAg>aGg		MYC associated factor X							222.0	215.0	218.0					14																	65550920		2203	4300	6503	SO:0001627	intron_variant	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65550920T>C		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.172-6166A>G	14.37:g.65550920T>C						MAX_ENST00000358664.4_Intron|MAX_ENST00000358402.4_Intron|MAX_ENST00000284165.6_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000556443.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Intron|MAX_ENST00000557277.1_Intron|MAX_ENST00000556979.1_Intron|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA	p.K90R	NM_145114.1	NP_660089.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	438	-			0			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.269A>G	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	6.347	0.432099	0.12045	.	.	ENSG00000125952	ENST00000246163	D	0.95788	-3.81	4.22	-8.44	0.00950	.	.	.	.	.	D	0.83538	0.5276	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75328	-0.3356	8	0.08381	T	0.77	.	4.0613	0.09839	0.2273:0.4787:0.1156:0.1784	.	90	Q96CY8	.	R	90	ENSP00000246163:K90R	ENSP00000246163:K90R	K	-	2	0	MAX	64620673	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.761000	0.01805	-2.332000	0.00632	-0.301000	0.09380	AAG		0.388	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		28	53	0	0	0	1	0	28	53				
PDE4DIP	9659	broad.mit.edu	37	1	144879390	144879390	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144879390G>T	ENST00000369354.3	-	27	4249	c.4060C>A	c.(4060-4062)Cta>Ata	p.L1354I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1310I|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1490I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1354I|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L1490I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1354					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTTTCGTAGGACCAAGATG	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4468-4470)Cta>Ata		phosphodiesterase 4D interacting protein							204.0	226.0	219.0					1																	144879390		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879390G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4060C>A	1.37:g.144879390G>T	ENSP00000358360:p.Leu1354Ile					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1490I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1354I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1310I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1354I|PDE4DIP_ENST00000524974.1_5'UTR	p.L1490I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4506	-			1354					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4468C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972711	0.53614	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.08008	3.15;3.18;3.14;3.18;3.23	5.08	5.08	0.68730	.	.	.	.	.	T	0.20129	0.0484	M	0.66939	2.045	0.80722	D	1	D;P	0.89917	1.0;0.915	D;P	0.83275	0.996;0.519	T	0.00226	-1.1900	9	0.72032	D	0.01	.	16.0791	0.80989	0.0:0.0:1.0:0.0	.	1310;1354	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1310;1354;1354;1490;1490	ENSP00000327209:L1310I;ENSP00000358360:L1354I;ENSP00000358363:L1354I;ENSP00000435654:L1490I;ENSP00000358366:L1490I	ENSP00000327209:L1310I	L	-	1	2	PDE4DIP	143590747	1.000000	0.71417	0.681000	0.30009	0.058000	0.15608	4.641000	0.61375	2.659000	0.90383	0.650000	0.86243	CTA		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		77	288	1	0	1.88935e-48	1	2.1248e-48	77	288				
VCAN	1462	broad.mit.edu	37	5	82789511	82789511	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:82789511G>A	ENST00000265077.3	+	4	1157	c.592G>A	c.(592-594)Gca>Aca	p.A198T	VCAN_ENST00000342785.4_Missense_Mutation_p.A198T|VCAN_ENST00000343200.5_Missense_Mutation_p.A198T|VCAN_ENST00000513984.1_Missense_Mutation_p.A198T|VCAN_ENST00000512590.2_Missense_Mutation_p.A150T|VCAN_ENST00000502527.2_Missense_Mutation_p.A198T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	198	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCAGTGTGACGCAGGCTGGCT	0.502																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(592-594)Gca>Aca		versican							95.0	96.0	96.0					5																	82789511		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789511G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.592G>A	5.37:g.82789511G>A	ENSP00000265077:p.Ala198Thr					VCAN_ENST00000502527.2_Missense_Mutation_p.A198T|VCAN_ENST00000343200.5_Missense_Mutation_p.A198T|VCAN_ENST00000513984.1_Missense_Mutation_p.A198T|VCAN_ENST00000342785.4_Missense_Mutation_p.A198T|VCAN_ENST00000512590.2_Missense_Mutation_p.A150T	p.A198T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	4	1157	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	198			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.592G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643307	0.96704	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.68	5.68	0.88126	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000011	T	0.52629	0.1746	H	0.94734	3.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.64905	-0.6297	10	0.87932	D	0	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	198;198;198;198;198	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	T	198;198;198;150;198;198;198	ENSP00000265077:A198T;ENSP00000340062:A198T;ENSP00000342768:A198T;ENSP00000425959:A150T;ENSP00000426251:A198T;ENSP00000426715:A198T;ENSP00000421362:A198T	ENSP00000265077:A198T	A	+	1	0	VCAN	82825267	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	GCA		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		34	44	0	0	0	1	0	34	44				
CDH1	999	broad.mit.edu	37	16	68847380	68847380	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68847380C>T	ENST00000261769.5	+	9	1493	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	434	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACAACGATGGCATTTTGAAAA	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Deletion - In frame(2)|Unknown(1)	p.Y380_K440del(2)|p.?(1)	breast(2)|stomach(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1300-1302)ggC>ggT		cadherin 1, type 1, E-cadherin (epithelial)							244.0	225.0	231.0					16																	68847380		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847380C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1302C>T	16.37:g.68847380C>T						CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	p.G434G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1493	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	434			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1302C>T	CCDS10869.1																																																																																				0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		59	134	0	0	0	1	0	59	134				
LOC494141	494141	broad.mit.edu	37	11	18231401	18231401	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18231401C>A	ENST00000527059.1	+	1	647	c.187C>A	c.(187-189)Ctc>Atc	p.L63I	RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.L63I|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.L63I																							TCAGAAGGTCCTCTTTCCACA	0.443																																						ENST00000527059.1																			0											c.(187-189)Ctc>Atc																																						SO:0001583	missense	0							g.chr11:18231401C>A																												ENST00000527059.1:c.187C>A	11.37:g.18231401C>A	ENSP00000436511:p.Leu63Ile					RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.L63I|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.L63I	p.L63I							1	647	+									Missense_Mutation	SNP	ENST00000527059.1	37	c.187C>A		.	.	.	.	.	.	.	.	.	.	.	5.834	0.338135	0.11069	.	.	ENSG00000189332	ENST00000340135;ENST00000534640;ENST00000527059	T;T;T	0.78924	-1.22;-1.22;-1.22	0.513	0.513	0.17000	.	0.000000	0.64402	D	0.000008	T	0.62708	0.2450	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59177	-0.7503	6	0.15066	T	0.55	.	6.7635	0.23554	0.0:0.9999:0.0:1.0E-4	.	.	.	.	I	63	ENSP00000342780:L63I;ENSP00000437119:L63I;ENSP00000436511:L63I	ENSP00000342780:L63I	L	+	1	0	RP11-113D6.10	18187977	0.998000	0.40836	0.341000	0.25589	0.196000	0.23810	1.771000	0.38542	0.502000	0.28037	0.305000	0.20034	CTC		0.443	RP11-113D6.10-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389801.2			16	42	1	0	6.49762e-13	1	7.04361e-13	16	42				
DNAAF1	123872	broad.mit.edu	37	16	84188289	84188289	+	Missense_Mutation	SNP	C	C	T	rs574238677		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84188289C>T	ENST00000378553.5	+	4	584	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	DNAAF1_ENST00000334315.5_Missense_Mutation_p.R154C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	154					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AACTGAGTTGCGTTGCCTCTT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18565	0.0		0.0	False		,,,				2504	0.001					ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(460-462)Cgt>Tgt		dynein, axonemal, assembly factor 1							106.0	99.0	101.0					16																	84188289		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188289C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.460C>T	16.37:g.84188289C>T	ENSP00000367815:p.Arg154Cys					DNAAF1_ENST00000334315.5_Missense_Mutation_p.R154C	p.R154C	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			4	584	+			154					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.460C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002993	0.74932	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.24908	1.83;1.83	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63937	-0.6524	10	0.72032	D	0.01	-14.9519	18.2687	0.90060	0.0:1.0:0.0:0.0	.	154	Q8NEP3	DAAF1_HUMAN	C	154	ENSP00000334593:R154C;ENSP00000367815:R154C	ENSP00000334593:R154C	R	+	1	0	DNAAF1	82745790	1.000000	0.71417	0.963000	0.40424	0.411000	0.31082	7.392000	0.79840	2.306000	0.77630	0.650000	0.86243	CGT		0.473	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		19	29	0	0	0	1	0	19	29				
C10orf12	26148	broad.mit.edu	37	10	98744275	98744275	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98744275C>A	ENST00000286067.2	+	1	3235	c.3128C>A	c.(3127-3129)cCt>cAt	p.P1043H		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1043										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCATCAACCCTCTGATGTCC	0.502																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(3127-3129)cCt>cAt		chromosome 10 open reading frame 12							122.0	115.0	118.0					10																	98744275		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744275C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3128C>A	10.37:g.98744275C>A	ENSP00000286067:p.Pro1043His						p.P1043H	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3235	+		Colorectal(252;0.172)	1043					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3128C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503657	0.26949	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.12255	2.7	5.7	4.81	0.61882	.	0.000000	0.47455	U	0.000227	T	0.31765	0.0807	L	0.51422	1.61	0.37348	D	0.910664	D	0.89917	1.0	D	0.80764	0.994	T	0.24977	-1.0145	10	0.87932	D	0	-8.1999	14.6585	0.68852	0.0:0.9304:0.0:0.0696	.	1043	Q8N655	CJ012_HUMAN	H	1043;877	ENSP00000286067:P1043H	ENSP00000286067:P1043H	P	+	2	0	C10orf12	98734265	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	3.801000	0.55545	1.441000	0.47550	-0.142000	0.14014	CCT		0.502	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		32	56	1	0	1.56738e-10	1	1.67813e-10	32	56				
EGFLAM	133584	broad.mit.edu	37	5	38407136	38407136	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38407136G>A	ENST00000354891.3	+	8	1381	c.1035G>A	c.(1033-1035)atG>atA	p.M345I	EGFLAM_ENST00000322350.5_Missense_Mutation_p.M345I|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M111I	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	345	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTTTGACATGCCTTGTGATG	0.557																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1033-1035)atG>atA		EGF-like, fibronectin type III and laminin G domains							129.0	121.0	124.0					5																	38407136		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407136G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1035G>A	5.37:g.38407136G>A	ENSP00000346964:p.Met345Ile					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M111I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M345I	p.M345I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1381	+	all_lung(31;0.000385)		345			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1035G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417803	0.25552	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.78595	0.91;0.74;-1.19	5.91	4.09	0.47781	Epidermal growth factor-like, type 3 (1);	0.503415	0.23710	N	0.045338	T	0.66509	0.2796	L	0.40543	1.245	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.56956	-0.7893	10	0.21014	T	0.42	-16.2808	9.712	0.40251	0.066:0.0:0.6818:0.2522	.	111;345;345	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	I	345;345;111;111	ENSP00000346964:M345I;ENSP00000313084:M345I;ENSP00000337607:M111I	ENSP00000313084:M345I	M	+	3	0	EGFLAM	38442893	0.937000	0.31787	0.426000	0.26672	0.986000	0.74619	1.442000	0.35046	0.794000	0.33899	0.655000	0.94253	ATG		0.557	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		15	21	0	0	0	1	0	15	21				
TAOK1	57551	broad.mit.edu	37	17	27849383	27849383	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27849383G>A	ENST00000261716.3	+	17	2513	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	665					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGGAGTTCCGCCACCTCAAC	0.433																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1993-1995)cGc>cAc		TAO kinase 1							104.0	93.0	97.0					17																	27849383		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849383G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1994G>A	17.37:g.27849383G>A	ENSP00000261716:p.Arg665His					TAOK1_ENST00000536202.1_Intron	p.R665H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2513	+			665					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1994G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703172	0.96812	.	.	ENSG00000160551	ENST00000261716	T	0.52983	0.64	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75900	-0.3154	10	0.87932	D	0	.	20.398	0.98986	0.0:0.0:1.0:0.0	.	665	Q7L7X3	TAOK1_HUMAN	H	665	ENSP00000261716:R665H	ENSP00000261716:R665H	R	+	2	0	TAOK1	24873509	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.863000	0.99569	2.827000	0.97445	0.643000	0.83706	CGC		0.433	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		34	54	0	0	0	1	0	34	54				
AKAP9	10142	broad.mit.edu	37	7	91708964	91708964	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91708964G>A	ENST00000359028.2	+	32	7778	c.7553G>A	c.(7552-7554)aGc>aAc	p.S2518N	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2506N|AKAP9_ENST00000358100.2_Missense_Mutation_p.S2518N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2518	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAACTTGAGAGCACTGTTAGT	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7552-7554)aGc>aAc		A kinase (PRKA) anchor protein 9							50.0	50.0	50.0					7																	91708964		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708964G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7553G>A	7.37:g.91708964G>A	ENSP00000351922:p.Ser2518Asn					AKAP9_ENST00000358100.2_Missense_Mutation_p.S2518N|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2506N	p.S2518N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	7778	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2518			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.7553G>A		.	.	.	.	.	.	.	.	.	.	G	6.279	0.419653	0.11928	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;4.0;4.0;3.91	4.09	1.34	0.21922	.	0.555566	0.15434	N	0.262521	T	0.02193	0.0068	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.47005	-0.9150	10	0.18710	T	0.47	.	1.0283	0.01533	0.3637:0.1612:0.3291:0.146	.	2510;2518;2506;2498	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	N	2506;2518;2518;2510;352	ENSP00000348573:S2506N;ENSP00000351922:S2518N;ENSP00000350813:S2518N;ENSP00000378042:S352N	ENSP00000348573:S2506N	S	+	2	0	AKAP9	91546900	0.002000	0.14202	0.996000	0.52242	0.977000	0.68977	-0.132000	0.10467	0.305000	0.22832	0.591000	0.81541	AGC		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	27	0	0	0	1	0	10	27				
SNHG14	104472715	broad.mit.edu	37	15	25326459	25326459	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25326459C>T	ENST00000546682.1	+	0	71				SNORD116-13_ENST00000384408.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCCATATATACATTCCTTGGA	0.463																																						ENST00000546682.1																			0																				235.0	213.0	220.0					15																	25326459		876	1991	2867			0							g.chr15:25326459C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25326459C>T						SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	71	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.463	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			37	179	0	0	0	1	0	37	179				
SREK1	140890	broad.mit.edu	37	5	65470839	65470839	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65470839G>A	ENST00000380918.3	+	11	1862	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K	SREK1_ENST00000334121.6_Missense_Mutation_p.R517K|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	401	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ACCATAAAAAGGAAATCTTCT	0.378																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1549-1551)aGg>aAg		splicing regulatory glutamine/lysine-rich protein 1							65.0	65.0	65.0					5																	65470839		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65470839G>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1202G>A	5.37:g.65470839G>A	ENSP00000370305:p.Arg401Lys					SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.R401K	p.R517K	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			10	1709	+			401					A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.1550G>A	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193009	0.58017	.	.	ENSG00000153914	ENST00000334121;ENST00000380918	T;T	0.10763	2.84;2.84	5.73	5.73	0.89815	.	0.041731	0.85682	D	0.000000	T	0.20210	0.0486	N	0.24115	0.695	0.29920	N	0.822825	P;P	0.52842	0.956;0.902	P;D	0.63033	0.899;0.91	T	0.02450	-1.1157	10	0.28530	T	0.3	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	401;517	Q8WXA9;Q8WXA9-2	SREK1_HUMAN;.	K	517;401	ENSP00000334538:R517K;ENSP00000370305:R401K	ENSP00000334538:R517K	R	+	2	0	SREK1	65506595	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	6.585000	0.74062	2.720000	0.93068	0.591000	0.81541	AGG		0.378	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		9	12	0	0	0	1	0	9	12				
ATP8A1	10396	broad.mit.edu	37	4	42596331	42596331	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42596331C>T	ENST00000381668.5	-	7	682				ATP8A1_ENST00000264449.10_Missense_Mutation_p.A167T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACAGTGTCAGCAGGTATATAC	0.373																																						ENST00000264449.10																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(499-501)Gct>Act		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						182.0	179.0	180.0					4																	42596331		1851	4083	5934	SO:0001627	intron_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42596331C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.451-3430G>A	4.37:g.42596331C>T						ATP8A1_ENST00000381668.5_Intron	p.A167T	NM_001105529.1	NP_001098999.1	Q9Y2Q0	AT8A1_HUMAN			7	718	-			167					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.499G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924708	0.92319	.	.	ENSG00000124406	ENST00000264449	D	0.94184	-3.37	5.7	5.7	0.88788	.	.	.	.	.	D	0.97920	0.9316	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98616	1.0665	9	0.87932	D	0	.	19.8201	0.96590	0.0:1.0:0.0:0.0	.	167	Q32M35	.	T	167	ENSP00000264449:A167T	ENSP00000264449:A167T	A	-	1	0	ATP8A1	42291088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.693000	0.91896	0.563000	0.77884	GCT		0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		26	60	0	0	0	1	0	26	60				
PRKCI	5584	broad.mit.edu	37	3	169953062	169953062	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169953062G>A	ENST00000295797.4	+	2	451	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	49	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TCCTTTGAGGGCCTTTGCAAT	0.383																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(145-147)gGc>gAc		protein kinase C, iota							111.0	102.0	105.0					3																	169953062		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169953062G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.146G>A	3.37:g.169953062G>A	ENSP00000295797:p.Gly49Asp						p.G49D	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	451	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		49			OPR.|Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.146G>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069109	0.36470	.	.	ENSG00000163558	ENST00000295797	T	0.65732	-0.17	5.43	5.43	0.79202	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	N	0.01493	-0.835	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33803	-0.9854	9	.	.	.	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	49	P41743	KPCI_HUMAN	D	49	ENSP00000295797:G49D	.	G	+	2	0	PRKCI	171435756	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.440000	0.97547	2.516000	0.84829	0.655000	0.94253	GGC		0.383	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		22	34	0	0	0	1	0	22	34				
OTUD4	54726	broad.mit.edu	37	4	146067543	146067543	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:146067543G>A	ENST00000447906.2	-	14	1485	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.T368I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	433					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTCTCGACTTGTGTGATCAAA	0.333																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1102-1104)aCa>aTa		OTU domain containing 4							122.0	125.0	124.0					4																	146067543		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146067543G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1298C>T	4.37:g.146067543G>A	ENSP00000395487:p.Thr433Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T433I|OTUD4_ENST00000455611.2_5'UTR	p.T368I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			14	1240	-	all_hematologic(180;0.151)		432					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1103C>T		.	.	.	.	.	.	.	.	.	.	G	7.638	0.680186	0.14907	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.31247	1.51;1.5;1.5	5.22	1.51	0.23008	.	1.155260	0.06188	N	0.680768	T	0.25121	0.0610	L	0.44542	1.39	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.002	T	0.28522	-1.0041	10	0.26408	T	0.33	1.1253	5.44	0.16501	0.3404:0.1763:0.4833:0.0	.	433;432	G3V0I6;Q01804	.;OTUD4_HUMAN	I	368;433;367	ENSP00000409279:T368I;ENSP00000395487:T433I;ENSP00000425972:T367I	ENSP00000395487:T433I	T	-	2	0	OTUD4	146286993	0.000000	0.05858	0.020000	0.16555	0.953000	0.61014	0.092000	0.15066	0.030000	0.15379	-0.150000	0.13652	ACA		0.333	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	78	0	0	0	1	0	4	78				
RPP40	10799	broad.mit.edu	37	6	5004148	5004148	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:5004148C>T	ENST00000380051.2	-	1	133	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	RPP40_ENST00000319533.5_Missense_Mutation_p.R30Q|RPP40_ENST00000464646.1_5'Flank	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	30					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACAAGATGCCGGTGGCGCGA	0.627											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(88-90)cGg>cAg		ribonuclease P/MRP 40kDa subunit							66.0	53.0	58.0					6																	5004148		2203	4300	6503	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5004148C>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.89G>A	6.37:g.5004148C>T	ENSP00000369391:p.Arg30Gln		OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	RPP40_ENST00000319533.5_Missense_Mutation_p.R30Q	p.R30Q	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			1	133	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	30					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.89G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689189	0.14973	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.43294	0.95;0.95	4.5	0.657	0.17850	.	0.971136	0.08474	N	0.940595	T	0.11495	0.0280	L	0.40543	1.245	0.80722	D	1	B;B	0.29432	0.012;0.244	B;B	0.15052	0.003;0.012	T	0.36890	-0.9729	10	0.19147	T	0.46	-6.4018	5.176	0.15135	0.0:0.4982:0.1434:0.3584	.	30;30	O75818-2;O75818	.;RPP40_HUMAN	Q	30	ENSP00000369391:R30Q;ENSP00000317998:R30Q	ENSP00000317998:R30Q	R	-	2	0	RPP40	4949147	0.995000	0.38212	0.957000	0.39632	0.010000	0.07245	0.341000	0.19909	-0.070000	0.12908	-0.384000	0.06662	CGG		0.627	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		3	7	0	0	0	1	0	3	7				
PANX2	56666	broad.mit.edu	37	22	50617461	50617461	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50617461G>A	ENST00000395842.2	+	3	1789	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	PANX2_ENST00000159647.5_Missense_Mutation_p.A597T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	597					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACCTCCCGCCGCCCCTGCTGT	0.692																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1789-1791)Gcc>Acc		pannexin 2							23.0	22.0	22.0					22																	50617461		2186	4297	6483	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617461G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1789G>A	22.37:g.50617461G>A	ENSP00000379183:p.Ala597Thr					PANX2_ENST00000159647.5_Missense_Mutation_p.A597T	p.A597T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	3	1789	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	597					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1789G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465171	0.43839	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.23552	1.9;1.92	3.71	0.161	0.14977	.	0.565504	0.15731	N	0.247434	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17930	-1.0353	10	0.40728	T	0.16	-11.8503	0.7092	0.00921	0.1603:0.1991:0.2382:0.4024	.	597;597	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	597;597;274	ENSP00000159647:A597T;ENSP00000379183:A597T	ENSP00000159647:A597T	A	+	1	0	PANX2	48959588	0.029000	0.19370	0.003000	0.11579	0.379000	0.30106	1.699000	0.37804	0.302000	0.22762	0.305000	0.20034	GCC		0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		6	9	0	0	0	1	0	6	9				
MYOM3	127294	broad.mit.edu	37	1	24419488	24419488	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24419488C>T	ENST00000374434.3	-	10	1201	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.V348M|MYOM3_ENST00000329601.7_Missense_Mutation_p.V347M	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	347	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCGAGGGCACCCGGACCATG	0.642																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1042-1044)Gtg>Atg		myomesin 3							32.0	37.0	36.0					1																	24419488		1985	4141	6126	SO:0001583	missense	127294							g.chr1:24419488C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1039G>A	1.37:g.24419488C>T	ENSP00000363557:p.Val347Met					MYOM3_ENST00000329601.7_Missense_Mutation_p.V347M|MYOM3_ENST00000374434.3_Missense_Mutation_p.V347M|MYOM3_ENST00000475306.1_5'UTR	p.V348M			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1204	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	347			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1042G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734285	0.30774	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.71934	-0.61;-0.61;-0.61	5.36	4.38	0.52667	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.363848	0.29594	N	0.011708	T	0.74114	0.3674	L	0.45581	1.43	0.09310	N	0.999996	P;P;D	0.62365	0.884;0.746;0.991	P;P;D	0.64506	0.54;0.511;0.926	T	0.64296	-0.6441	10	0.52906	T	0.07	.	6.8088	0.23792	0.0:0.7272:0.1797:0.093	.	4;347;347	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	M	347;348;347	ENSP00000363557:V347M;ENSP00000332670:V348M;ENSP00000328415:V347M	ENSP00000328415:V347M	V	-	1	0	MYOM3	24292075	0.799000	0.28903	0.077000	0.20336	0.028000	0.11728	1.975000	0.40569	2.512000	0.84698	0.650000	0.86243	GTG		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		5	5	0	0	0	1	0	5	5				
IL4I1	259307	broad.mit.edu	37	19	50397557	50397557	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50397557G>T	ENST00000391826.2	-	5	677	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	IL4I1_ENST00000341114.3_Missense_Mutation_p.P201T|IL4I1_ENST00000595948.1_Missense_Mutation_p.P201T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	179						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	ATGTCTTCGGGCGAGTGGCCC	0.637																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(601-603)Ccc>Acc		interleukin 4 induced 1							95.0	91.0	92.0					19																	50397557		2203	4300	6503	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50397557G>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.535C>A	19.37:g.50397557G>T	ENSP00000375702:p.Pro179Thr					IL4I1_ENST00000391826.2_Missense_Mutation_p.P179T|IL4I1_ENST00000341114.3_Missense_Mutation_p.P201T	p.P201T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	7	1221	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	179					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.601C>A	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085050	0.55861	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.09163	3.01;3.01	5.38	5.38	0.77491	Amine oxidase (1);	0.238388	0.44097	D	0.000498	T	0.31513	0.0799	M	0.72894	2.215	0.42338	D	0.992321	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.72982	0.964;0.979;0.936	T	0.01269	-1.1400	10	0.51188	T	0.08	-27.8797	14.6045	0.68466	0.0:0.0:1.0:0.0	.	201;201;179	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	T	201;179	ENSP00000342557:P201T;ENSP00000375702:P179T	ENSP00000342557:P201T	P	-	1	0	IL4I1	55089369	0.999000	0.42202	0.714000	0.30535	0.224000	0.24922	4.251000	0.58778	2.521000	0.84997	0.491000	0.48974	CCC		0.637	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			5	9	1	0	0.000602214	1	0.000612743	5	9				
HNRNPH1	3187	broad.mit.edu	37	5	179046270	179046270	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179046270C>A	ENST00000356731.5	-	4	2071	c.536G>T	c.(535-537)aGg>aTg	p.R179M	HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000329433.6_Splice_Site_p.R179M|HNRNPH1_ENST00000442819.2_Splice_Site_p.R179M|HNRNPH1_ENST00000393432.4_Splice_Site_p.R179M|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Splice_Site_p.R179M			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	179	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CCATCCCCACCTGTGCCCTAT	0.423																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e4+1		heterogeneous nuclear ribonucleoprotein H1 (H)							256.0	247.0	250.0					5																	179046270		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179046270C>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.536+1G>T	5.37:g.179046270C>A						HNRNPH1_ENST00000510411.1_Splice_Site_p.R179_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.R179_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.R179_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.R179_splice	p.R179_splice			P31943	HNRH1_HUMAN			4	2071	-			179			RRM 2.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.536_splice	CCDS4446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.5|20.5	4.007756|4.007756	0.75046|0.75046	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000523137;ENST00000505811;ENST00000519056	.|T;T;T;T;T;T;T;T	.|0.13307	.|2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.070020	.|0.85682	.|D	.|0.000000	T|T	0.58409|0.58409	0.2120|0.2120	H|H	0.98370|0.98370	4.215|4.215	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	T|T	0.75717|0.75717	-0.3220|-0.3220	5|10	.|0.87932	.|D	.|0	-7.7475|-7.7475	19.9659|19.9659	0.97266|0.97266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|179	.|P31943	.|HNRH1_HUMAN	C|M	54|179;179;179;179;179;131;179;127	.|ENSP00000377082:R179M;ENSP00000397797:R179M;ENSP00000349168:R179M;ENSP00000327539:R179M;ENSP00000426275:R179M;ENSP00000427986:R131M;ENSP00000424087:R179M;ENSP00000430970:R127M	.|ENSP00000327539:R179M	G|R	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178978876|178978876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.711000|2.711000	0.92665|0.92665	0.650000|0.650000	0.86243|0.86243	GGT|AGG		0.423	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Missense_Mutation	6	192	1	0	3.59834e-05	1	3.7043e-05	6	192				
GPR68	8111	broad.mit.edu	37	14	91700554	91700554	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91700554C>T	ENST00000531499.2	-	2	1180	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.A281T|GPR68_ENST00000238699.3_Missense_Mutation_p.A291T			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	281					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		ACGGGGTCGGCGACGCAGTTG	0.682																																						ENST00000535815.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(841-843)Gcc>Acc		G protein-coupled receptor 68							17.0	19.0	18.0					14																	91700554		2180	4277	6457	SO:0001583	missense	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700554C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.841G>A	14.37:g.91700554C>T	ENSP00000434045:p.Ala281Thr					GPR68_ENST00000238699.3_Missense_Mutation_p.A291T|GPR68_ENST00000531499.2_Missense_Mutation_p.A281T	p.A281T	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1181	-		all_cancers(154;0.0555)	281					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.841G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758932	0.89843	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.059852	0.64402	D	0.000003	T	0.64238	0.2580	M	0.83223	2.63	0.49687	D	0.99981	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63559	-0.6610	10	0.31617	T	0.26	.	18.8661	0.92293	0.0:1.0:0.0:0.0	.	281;281	Q6NWR5;Q15743	.;OGR1_HUMAN	T	281;291;281;281	ENSP00000434045:A281T;ENSP00000238699:A291T;ENSP00000440797:A281T;ENSP00000432740:A281T	ENSP00000238699:A291T	A	-	1	0	GPR68	90770307	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	5.994000	0.70623	2.457000	0.83068	0.555000	0.69702	GCC		0.682	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			4	4	0	0	0	1	0	4	4				
TNKS1BP1	85456	broad.mit.edu	37	11	57087833	57087833	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57087833G>A	ENST00000532437.1	-	2	759	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R150C			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	150	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GAGGCTGGGCGGAAAGGGGCA	0.667																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(448-450)Cgc>Tgc		tankyrase 1 binding protein 1, 182kDa							48.0	56.0	54.0					11																	57087833		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087833G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.448C>T	11.37:g.57087833G>A	ENSP00000437271:p.Arg150Cys					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R150C	p.R150C			Q9C0C2	TB182_HUMAN			2	759	-		all_epithelial(135;0.21)	150			Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.448C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873623	0.72180	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38240	1.15;1.15	4.37	4.37	0.52481	.	0.000000	0.33938	N	0.004416	T	0.42404	0.1201	N	0.24115	0.695	0.37717	D	0.924762	D	0.89917	1.0	D	0.79108	0.992	T	0.49224	-0.8962	10	0.72032	D	0.01	-10.8237	9.5994	0.39593	0.0983:0.0:0.9017:0.0	.	150	Q9C0C2	TB182_HUMAN	C	150	ENSP00000350990:R150C;ENSP00000437271:R150C	ENSP00000350990:R150C	R	-	1	0	TNKS1BP1	56844409	0.992000	0.36948	0.927000	0.36925	0.940000	0.58332	0.733000	0.26087	2.225000	0.72522	0.462000	0.41574	CGC		0.667	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		20	44	0	0	0	1	0	20	44				
ARAP3	64411	broad.mit.edu	37	5	141036142	141036142	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141036142G>A	ENST00000239440.4	-	27	3783	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.L1071L|ARAP3_ENST00000513878.1_Silent_p.L902L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1240	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGGCTTCCCAGCAAGCGAGGT	0.627																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3718-3720)Ctg>Ttg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							23.0	24.0	24.0					5																	141036142		2202	4300	6502	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141036142G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3718C>T	5.37:g.141036142G>A						ARAP3_ENST00000508305.1_Silent_p.L1071L|ARAP3_ENST00000513878.1_Silent_p.L902L|ARAP3_ENST00000512390.1_5'UTR	p.L1240L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			27	3783	-			1240			PH 3.		B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.3718C>T	CCDS4266.1																																																																																				0.627	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	5	0	0	0	1	0	4	5				
SLC26A8	116369	broad.mit.edu	37	6	35923139	35923139	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35923139C>T	ENST00000490799.1	-	17	2375	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	SLC26A8_ENST00000355574.2_Silent_p.G674G|SLC26A8_ENST00000394602.2_Silent_p.G569G	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CATACTGTTGCCCTTGATTTT	0.483																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2020-2022)ggG>ggA		solute carrier family 26 (anion exchanger), member 8							257.0	243.0	248.0					6																	35923139		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923139C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2022G>A	6.37:g.35923139C>T						SLC26A8_ENST00000394602.2_Silent_p.G569G|SLC26A8_ENST00000355574.2_Silent_p.G674G	p.G674G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2375	-			674			Interaction with RACGAP1.|STAS.			Silent	SNP	ENST00000490799.1	37	c.2022G>A	CCDS4813.1																																																																																				0.483	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			30	50	0	0	0	1	0	30	50				
DLC1	10395	broad.mit.edu	37	8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000511869.1_Missense_Mutation_p.A232T|DLC1_ENST00000316609.5_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	232					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(694-696)Gct>Act		deleted in liver cancer 1							155.0	154.0	154.0					8																	13356887		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356887C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.694G>A	8.37:g.13356887C>T	ENSP00000276297:p.Ala232Thr					DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1103	-			232					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.694G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633447	0.47049	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.20332	3.07;2.08;2.11	4.84	3.94	0.45596	.	0.000000	0.38381	N	0.001719	T	0.23330	0.0564	L	0.27053	0.805	0.27494	N	0.952185	P;D;B	0.55605	0.873;0.972;0.006	B;P;B	0.51806	0.403;0.68;0.008	T	0.04347	-1.0958	10	0.42905	T	0.14	.	13.9491	0.64104	0.0:0.9255:0.0:0.0745	.	232;232;232	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	T	232	ENSP00000276297:A232T;ENSP00000321034:A232T;ENSP00000425878:A232T	ENSP00000276297:A232T	A	-	1	0	DLC1	13401258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.985000	0.40668	1.354000	0.45846	0.655000	0.94253	GCT		0.393	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		62	115	0	0	0	1	0	62	115				
GMPPB	29925	broad.mit.edu	37	3	49755426	49755426	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49755426C>T	ENST00000480687.1	-	0	4958				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.E491E|AMIGO3_ENST00000535833.1_Silent_p.E491E|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCTGGCGGACTCAGAGCCAG	0.662																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1471-1473)gaG>gaA		adhesion molecule with Ig-like domain 3							37.0	41.0	40.0					3																	49755426		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755426C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3759G>A	3.37:g.49755426C>T						GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.E491E|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron	p.E491E			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4923	-			491					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1473G>A	CCDS2803.1																																																																																				0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		13	13	0	0	0	1	0	13	13				
FIGLA	344018	broad.mit.edu	37	2	71012724	71012724	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71012724T>C	ENST00000332372.6	-	3	436	c.432A>G	c.(430-432)tcA>tcG	p.S144S		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	144					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						AGGATGTATGTGATTCAGAAC	0.418																																						ENST00000332372.6																			0				endometrium(2)|lung(3)	5						c.(430-432)tcA>tcG		folliculogenesis specific basic helix-loop-helix							427.0	417.0	421.0					2																	71012724		2016	4181	6197	SO:0001819	synonymous_variant	344018				multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding	g.chr2:71012724T>C	BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.432A>G	2.37:g.71012724T>C							p.S144S	NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN			3	436	-			144						Silent	SNP	ENST00000332372.6	37	c.432A>G	CCDS46320.1																																																																																				0.418	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331214.1	NM_001004311		33	196	0	0	0	1	0	33	196				
NOA1	84273	broad.mit.edu	37	4	57832797	57832797	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57832797T>C	ENST00000264230.4	-	5	2990	c.1753A>G	c.(1753-1755)Acg>Gcg	p.T585A		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	585					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGGAGTAACGTATGACCTGCA	0.478																																						ENST00000264230.4																			0											c.(1753-1755)Acg>Gcg		nitric oxide associated 1							146.0	114.0	125.0					4																	57832797		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57832797T>C	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1753A>G	4.37:g.57832797T>C	ENSP00000264230:p.Thr585Ala						p.T585A	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2990	-			585					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1753A>G	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	T	1.581	-0.531688	0.04112	.	.	ENSG00000084092	ENST00000264230	T	0.29917	1.55	5.66	0.574	0.17368	.	0.823172	0.11354	N	0.572669	T	0.16428	0.0395	L	0.31120	0.905	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35226	-0.9797	10	0.07990	T	0.79	.	4.9699	0.14110	0.1326:0.2968:0.0:0.5706	.	585	Q8NC60	CD014_HUMAN	A	585	ENSP00000264230:T585A	ENSP00000264230:T585A	T	-	1	0	C4orf14	57527554	0.000000	0.05858	0.002000	0.10522	0.149000	0.21700	-0.030000	0.12308	0.089000	0.17243	0.374000	0.22700	ACG		0.478	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		19	20	0	0	0	1	0	19	20				
PCDH15	65217	broad.mit.edu	37	10	55955612	55955612	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55955612G>T	ENST00000320301.6	-	11	1530	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	PCDH15_ENST00000373957.3_Missense_Mutation_p.A357D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A379D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A379D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A384D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A357D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A379D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A379D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395440.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A342D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTAGACCGGCAAAGGCAGG	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1135-1137)gCc>gAc		protocadherin-related 15							124.0	119.0	121.0					10																	55955612		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955612G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1136C>A	10.37:g.55955612G>T	ENSP00000322604:p.Ala379Asp	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.A357D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A379D|PCDH15_ENST00000395440.1_Missense_Mutation_p.A379D|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A379D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A379D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A379D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A384D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A357D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A379D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A342D	p.A379D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			11	1530	-		Melanoma(3;0.117)|Lung SC(717;0.238)	379			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1136C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728853	0.89390	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;2.23;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69762	0.3147	M	0.84948	2.725	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998;0.999;1.0;0.997;0.998;0.998;0.997;0.997;0.998;0.997;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.988;0.973;0.98;0.971;0.988;0.998;0.964;0.98;0.988;0.928;0.964;0.978;0.928;0.988	T	0.75671	-0.3237	9	0.87932	D	0	.	18.2588	0.90026	0.0:0.0:1.0:0.0	.	357;379;379;384;379;342;379;379;379;379;379;384;379;357;379	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	379;384;379;379;379;379;379;342;379;357;357;379;379;384;379;379	ENSP00000363076:A379D;ENSP00000410304:A384D;ENSP00000378826:A379D;ENSP00000378832:A379D;ENSP00000378833:A379D;ENSP00000378827:A379D;ENSP00000378820:A342D;ENSP00000354950:A379D;ENSP00000378821:A357D;ENSP00000363068:A357D;ENSP00000322604:A379D;ENSP00000378818:A379D;ENSP00000412628:A379D;ENSP00000363066:A379D	ENSP00000322604:A379D	A	-	2	0	PCDH15	55625618	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.828000	0.99408	2.426000	0.82243	0.591000	0.81541	GCC		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		21	36	1	0	6.44725e-10	1	6.8705e-10	21	36				
ZNFX1	57169	broad.mit.edu	37	20	47864034	47864034	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47864034G>A	ENST00000396105.1	-	14	5773	c.5527C>T	c.(5527-5529)Cgt>Tgt	p.R1843C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1843C|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1843							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGTGACCACGAGGATAACCT	0.542																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(5527-5529)Cgt>Tgt		zinc finger, NFX1-type containing 1							114.0	96.0	102.0					20																	47864034		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864034G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5527C>T	20.37:g.47864034G>A	ENSP00000379412:p.Arg1843Cys					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1843C|ZNFX1_ENST00000371754.4_Intron	p.R1843C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5773	-			1843					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5527C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968393	0.92855	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.87029	-2.2;-2.2	6.04	6.04	0.98038	.	0.134885	0.53938	D	0.000056	D	0.91379	0.7280	L	0.61218	1.895	0.48040	D	0.999579	D	0.89917	1.0	P	0.57152	0.814	D	0.91438	0.5171	10	0.72032	D	0.01	-8.6187	19.1586	0.93522	0.0:0.0:1.0:0.0	.	1843	Q9P2E3	ZNFX1_HUMAN	C	1843	ENSP00000360817:R1843C;ENSP00000379412:R1843C	ENSP00000360817:R1843C	R	-	1	0	ZNFX1	47297441	0.998000	0.40836	0.991000	0.47740	0.981000	0.71138	6.491000	0.73649	2.873000	0.98535	0.563000	0.77884	CGT		0.542	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		22	28	0	0	0	1	0	22	28				
TICRR	90381	broad.mit.edu	37	15	90145182	90145182	+	Missense_Mutation	SNP	C	C	T	rs201733600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90145182C>T	ENST00000268138.7	+	12	2647	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	TICRR_ENST00000560985.1_Missense_Mutation_p.R847C			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	848					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCAGGAACTTCGTACCAGATC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20977	0.001		0.0	False		,,,				2504	0.0					ENST00000268138.7																			0											c.(2542-2544)Cgt>Tgt		TOPBP1-interacting checkpoint and replication regulator							90.0	81.0	84.0					15																	90145182		1896	4125	6021	SO:0001583	missense	90381							g.chr15:90145182C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2542C>T	15.37:g.90145182C>T	ENSP00000268138:p.Arg848Cys					TICRR_ENST00000560985.1_Missense_Mutation_p.R847C	p.R848C							12	2647	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2542C>T	CCDS10352.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.45	3.829474	0.71258	.	.	ENSG00000140534	ENST00000268138	T	0.17691	2.26	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25641	-1.0126	10	0.72032	D	0.01	-18.8599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	848	Q7Z2Z1	TICRR_HUMAN	C	848	ENSP00000268138:R848C	ENSP00000268138:R848C	R	+	1	0	C15orf42	87946186	1.000000	0.71417	0.928000	0.36995	0.549000	0.35272	4.101000	0.57769	2.882000	0.98803	0.655000	0.94253	CGT		0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		22	37	0	0	0	1	0	22	37				
STOML2	30968	broad.mit.edu	37	9	35102754	35102754	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35102754C>T	ENST00000356493.5	-	2	174	c.112G>A	c.(112-114)Gta>Ata	p.V38I	STOML2_ENST00000452248.2_Missense_Mutation_p.V38I|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	38					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGAACAGTACCACGGTGTTT	0.637																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(112-114)Gta>Ata		stomatin (EPB72)-like 2							52.0	60.0	57.0					9																	35102754		2203	4299	6502	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102754C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.112G>A	9.37:g.35102754C>T	ENSP00000348886:p.Val38Ile					STOML2_ENST00000452248.2_Missense_Mutation_p.V38I	p.V38I	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	174	-			38					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.112G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535343	0.45176	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.97752	-3.37;-4.52	5.41	4.28	0.50868	.	0.119152	0.56097	N	0.000034	D	0.91068	0.7189	N	0.08118	0	0.45046	D	0.998069	B;B	0.09022	0.002;0.002	B;B	0.15052	0.004;0.012	D	0.85599	0.1251	10	0.02654	T	1	-3.6882	11.3485	0.49575	0.0:0.8874:0.0:0.1126	.	38;38	B4E1K7;Q9UJZ1	.;STML2_HUMAN	I	38	ENSP00000348886:V38I;ENSP00000395743:V38I	ENSP00000348886:V38I	V	-	1	0	STOML2	35092754	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	2.977000	0.49297	1.180000	0.42898	0.561000	0.74099	GTA		0.637	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		26	34	0	0	0	1	0	26	34				
ZNF180	7733	broad.mit.edu	37	19	44981523	44981523	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44981523C>T	ENST00000221327.4	-	5	1456	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R367Q|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.R365Q	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGCGAGCTCCGGCTGAAGGA	0.458																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1174-1176)cGg>cAg		zinc finger protein 180							67.0	69.0	68.0					19																	44981523		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981523C>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1175G>A	19.37:g.44981523C>T	ENSP00000221327:p.Arg392Gln					ZNF180_ENST00000391956.4_Missense_Mutation_p.R367Q|ZNF180_ENST00000592529.1_Missense_Mutation_p.R365Q	p.R392Q	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1456	-		Prostate(69;0.0435)	392					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1175G>A	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105750	0.06924	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.18502	2.21;2.21	5.47	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38897	N	0.001539	T	0.06050	0.0157	L	0.27944	0.81	0.09310	N	0.999999	P;P;P	0.39181	0.611;0.663;0.663	B;B;B	0.23716	0.029;0.048;0.048	T	0.18618	-1.0331	10	0.07813	T	0.8	-19.4306	2.8875	0.05665	0.1463:0.554:0.1417:0.1579	.	367;391;392	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	Q	392;367	ENSP00000221327:R392Q;ENSP00000375818:R367Q	ENSP00000221327:R392Q	R	-	2	0	ZNF180	49673363	0.000000	0.05858	0.997000	0.53966	0.001000	0.01503	-0.063000	0.11655	1.292000	0.44672	-0.150000	0.13652	CGG		0.458	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		26	65	0	0	0	1	0	26	65				
WDR33	55339	broad.mit.edu	37	2	128477099	128477099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128477099G>A	ENST00000322313.4	-	16	2658	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	834					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCATGCCTCGGATCTCCTGA	0.627																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2500-2502)Cga>Tga		WD repeat domain 33							31.0	34.0	33.0					2																	128477099		2203	4299	6502	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477099G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2500C>T	2.37:g.128477099G>A	ENSP00000325377:p.Arg834*						p.R834*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2658	-	Colorectal(110;0.1)		834					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.2500C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	38	6.817177	0.97861	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.18	3.01	0.34805	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5046	13.2463	0.60026	0.0:0.0:0.5408:0.4592	.	.	.	.	X	834	.	ENSP00000325377:R834X	R	-	1	2	WDR33	128193569	0.983000	0.35010	0.996000	0.52242	0.732000	0.41865	1.036000	0.30228	1.259000	0.44117	0.563000	0.77884	CGA		0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	0	0	0	1	0	3	19				
ITSN1	6453	broad.mit.edu	37	21	35257765	35257765	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:35257765C>T	ENST00000381318.3	+	38	5070	c.4782C>T	c.(4780-4782)ggC>ggT	p.G1594G	ITSN1_ENST00000437442.2_Silent_p.G1533G|ITSN1_ENST00000381285.4_Silent_p.G1594G|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.G1589G|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1594	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGCAACAGGCATTGGAAGGT	0.527																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4780-4782)ggC>ggT		intersectin 1 (SH3 domain protein)							217.0	184.0	195.0					21																	35257765		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35257765C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4782C>T	21.37:g.35257765C>T						ITSN1_ENST00000399367.3_Silent_p.G1589G|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.G1594G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.G1533G	p.G1594G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			38	5070	+			1594			C2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4782C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335945	0.24253	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.87	-11.7	0.00046	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51212	-0.8734	4	.	.	.	.	5.8043	0.18432	0.0708:0.5275:0.3013:0.1003	.	.	.	.	Y	274	.	.	H	+	1	0	ITSN1	34179635	0.088000	0.21588	0.052000	0.19188	0.968000	0.65278	-0.670000	0.05256	-2.686000	0.00406	0.643000	0.83706	CAT		0.527	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		15	6	0	0	0	1	0	15	6				
HK2	3099	broad.mit.edu	37	2	75107402	75107402	+	Missense_Mutation	SNP	C	C	T	rs376768203		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75107402C>T	ENST00000290573.2	+	10	1876	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	HK2_ENST00000409174.1_Missense_Mutation_p.R398C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	426	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTTGCCAAGCGTCTACATAA	0.582																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1276-1278)Cgt>Tgt		hexokinase 2		C	CYS/ARG	0,4404		0,0,2202	189.0	211.0	204.0		1276	1.1	1.0	2		204	1,8597		0,1,4298	no	missense	HK2	NM_000189.4	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	426/918	75107402	1,13001	2202	4299	6501	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107402C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1276C>T	2.37:g.75107402C>T	ENSP00000290573:p.Arg426Cys					HK2_ENST00000409174.1_Missense_Mutation_p.R398C	p.R426C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	1876	+			426			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1276C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769250	0.15983	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	T;T	0.12569	2.67;2.67	4.89	1.09	0.20402	Hexokinase, C-terminal (1);	0.182827	0.56097	N	0.000021	T	0.28034	0.0691	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.00664	-1.1620	10	0.37606	T	0.19	-0.0523	11.9681	0.53047	0.0:0.7989:0.0:0.2011	.	426	P52789	HXK2_HUMAN	C	426;426;398	ENSP00000290573:R426C;ENSP00000387140:R398C	ENSP00000290573:R426C	R	+	1	0	HK2	74960910	0.925000	0.31364	0.994000	0.49952	0.059000	0.15707	1.944000	0.40263	0.087000	0.17167	-1.155000	0.01812	CGT		0.582	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		76	141	0	0	0	1	0	76	141				
TMC1	117531	broad.mit.edu	37	9	75407265	75407265	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:75407265A>G	ENST00000297784.5	+	17	2103	c.1563A>G	c.(1561-1563)ggA>ggG	p.G521G	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.G521G|TMC1_ENST00000340019.3_Silent_p.G521G	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	521					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CAATGGTGGGACAGGTAATGC	0.403																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1561-1563)ggA>ggG		transmembrane channel-like 1							178.0	166.0	170.0					9																	75407265		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75407265A>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1563A>G	9.37:g.75407265A>G						TMC1_ENST00000396237.3_Silent_p.G521G|TMC1_ENST00000340019.3_Silent_p.G521G|TMC1_ENST00000486417.1_3'UTR	p.G521G	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			17	2103	+			521					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1563A>G	CCDS6643.1																																																																																				0.403	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			26	176	0	0	0	1	0	26	176				
ZNF384	171017	broad.mit.edu	37	12	6782571	6782571	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6782571G>A	ENST00000396801.3	-	7	929	c.722C>T	c.(721-723)tCg>tTg	p.S241L	ZNF384_ENST00000361959.3_Missense_Mutation_p.S241L|ZNF384_ENST00000355772.4_Missense_Mutation_p.S186L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S225L|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.S241L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S241L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	241					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTGCATCTCCGACTTGGAGTA	0.567			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(721-723)tCg>tTg		zinc finger protein 384							204.0	130.0	155.0					12																	6782571		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6782571G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.722C>T	12.37:g.6782571G>A	ENSP00000380019:p.Ser241Leu					ZNF384_ENST00000396799.2_Missense_Mutation_p.S241L|ZNF384_ENST00000355772.4_Missense_Mutation_p.S186L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S241L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S241L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S225L	p.S241L			Q8TF68	ZN384_HUMAN			6	1219	-			241					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.722C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217771	0.79352	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774	T;T;T;T;T;T;T	0.30981	1.51;1.51;2.26;2.26;1.51;1.51;2.25	5.71	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.99;0.997;0.99;0.975;0.99	T	0.55970	-0.8056	10	0.87932	D	0	-6.982	13.4192	0.60987	0.0739:0.0:0.9261:0.0	.	241;272;186;225;241	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	L	225;241;241;241;186;241;272;225	ENSP00000321650:S225L;ENSP00000380013:S241L;ENSP00000380019:S241L;ENSP00000354592:S241L;ENSP00000348018:S186L;ENSP00000380017:S241L;ENSP00000412911:S225L	ENSP00000321650:S225L	S	-	2	0	ZNF384	6652832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.688000	0.91661	0.591000	0.81541	TCG		0.567	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			19	17	0	0	0	1	0	19	17				
ORC3	23595	broad.mit.edu	37	6	88374517	88374517	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88374517C>T	ENST00000392844.3	+	18	1938	c.1890C>T	c.(1888-1890)tgC>tgT	p.C630C	ORC3_ENST00000546266.1_Silent_p.C487C|ORC3_ENST00000257789.4_Silent_p.C631C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	630					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGACATCTGCATAGCATACA	0.398																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1888-1890)tgC>tgT		origin recognition complex, subunit 3							128.0	113.0	118.0					6																	88374517		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88374517C>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1890C>T	6.37:g.88374517C>T						ORC3_ENST00000257789.4_Silent_p.C631C|ORC3_ENST00000546266.1_Silent_p.C487C	p.C630C	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			18	1938	+			630					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.1890C>T	CCDS43486.1																																																																																				0.398	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			24	49	0	0	0	1	0	24	49				
OBSCN	84033	broad.mit.edu	37	1	228444550	228444550	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228444550A>G	ENST00000422127.1	+	15	4552	c.4508A>G	c.(4507-4509)cAg>cGg	p.Q1503R	OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1503R|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q67R|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q1595R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1503	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGTGCAGCAGGCGGGCCAG	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4783-4785)cAg>cGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43.0	49.0	47.0					1																	228444550		2053	4182	6235	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444550A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4508A>G	1.37:g.228444550A>G	ENSP00000409493:p.Gln1503Arg					OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1503R|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q67R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1503R	p.Q1595R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4858	+		Prostate(94;0.0405)	576			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4784A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687375	0.48097	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.66638	3.62;3.62;-0.22	4.6	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.579188	0.16878	N	0.195802	T	0.69904	0.3163	L	0.50993	1.605	0.80722	D	1	D;D	0.63880	0.993;0.991	P;P	0.60609	0.877;0.857	T	0.63963	-0.6518	10	0.18276	T	0.48	.	9.4609	0.38785	0.9149:0.0:0.0851:0.0	.	1503;1503	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1503;1503;67	ENSP00000284548:Q1503R;ENSP00000409493:Q1503R;ENSP00000352613:Q67R	ENSP00000284548:Q1503R	Q	+	2	0	OBSCN	226511173	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.520000	0.35899	1.704000	0.51252	0.402000	0.26972	CAG		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		19	33	0	0	0	1	0	19	33				
SNHG14	104472715	broad.mit.edu	37	15	25436481	25436481	+	RNA	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25436481T>C	ENST00000424208.1	+	0	1076				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CACCCTGGTCTGCTGCACTGA	0.627																																						ENST00000424208.1																			0																																																			0							g.chr15:25436481T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436481T>C						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1076	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.627	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			37	46	0	0	0	1	0	37	46				
RPS10	6204	broad.mit.edu	37	6	34392485	34392485	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:34392485G>A	ENST00000326199.8	-	3	376	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.R95C|RPS10_ENST00000344700.3_Missense_Mutation_p.R95C|RPS10_ENST00000494077.1_5'UTR	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	95					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						CGGCTACGGCGTAGGGTGGCA	0.507																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.(283-285)Cgc>Tgc									26.0	29.0	28.0					6																	34392485		2203	4298	6501	SO:0001583	missense	0							g.chr6:34392485G>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.283C>T	6.37:g.34392485G>A	ENSP00000347271:p.Arg95Cys					RPS10_ENST00000326199.8_Missense_Mutation_p.R95C|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.R95C	p.R95C	NM_001202470.2	NP_001189399.1					3	299	-								B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	c.283C>T	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976153	0.74360	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78003	-1.12;-1.14	5.19	5.19	0.71726	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	L	0.35341	1.055	0.80722	D	1	B	0.22604	0.072	B	0.22601	0.04	T	0.62530	-0.6835	10	0.54805	T	0.06	-8.4826	18.7885	0.91964	0.0:0.0:1.0:0.0	.	95	P46783	RS10_HUMAN	C	95	ENSP00000347271:R95C;ENSP00000363169:R95C	ENSP00000347271:R95C	R	-	1	0	RPS10	34500463	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.799000	0.99117	2.446000	0.82766	0.485000	0.47835	CGC		0.507	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			11	10	0	0	0	1	0	11	10				
TRPM1	4308	broad.mit.edu	37	15	31327752	31327752	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31327752T>C	ENST00000256552.6	-	21	2844	c.2697A>G	c.(2695-2697)cgA>cgG	p.R899R	TRPM1_ENST00000397795.2_Silent_p.R877R|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Silent_p.R916R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAGCCACCTCTCGTATCTTCT	0.517																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2746-2748)cgA>cgG		transient receptor potential cation channel, subfamily M, member 1							73.0	75.0	74.0					15																	31327752		2056	4194	6250	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327752T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2697A>G	15.37:g.31327752T>C						RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.R899R|TRPM1_ENST00000397795.2_Silent_p.R877R|RP11-348B17.1_ENST00000558755.1_RNA	p.R916R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	20	3061	-		all_lung(180;1.92e-11)	877						Silent	SNP	ENST00000256552.6	37	c.2748A>G	CCDS58346.1																																																																																				0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	29	0	0	0	1	0	13	29				
CDH19	28513	broad.mit.edu	37	18	64212131	64212131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:64212131C>T	ENST00000540086.1	-	6	1031	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CDH19_ENST00000262150.2_Missense_Mutation_p.R262H	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	372	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GACAGTCAAGCGGTATAAACC	0.323																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(784-786)cGc>cAc		cadherin 19, type 2							80.0	72.0	74.0					18																	64212131		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64212131C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.785G>A	18.37:g.64212131C>T	ENSP00000439593:p.Arg262His					CDH19_ENST00000540086.1_Missense_Mutation_p.R262H	p.R262H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			6	1077	-		Esophageal squamous(42;0.0132)	262			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.785G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261912	0.10239	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50548	0.74;0.74	5.28	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.354861	0.29775	N	0.011240	T	0.25606	0.0623	N	0.16656	0.425	0.28271	N	0.924421	B;B	0.29432	0.027;0.244	B;B	0.30572	0.01;0.117	T	0.06499	-1.0823	10	0.23891	T	0.37	.	3.0947	0.06305	0.0:0.5085:0.295:0.1965	.	262;262	F5H1K0;Q9H159	.;CAD19_HUMAN	H	262;262;207	ENSP00000262150:R262H;ENSP00000439593:R262H	ENSP00000262150:R262H	R	-	2	0	CDH19	62363111	0.947000	0.32204	0.935000	0.37517	0.112000	0.19704	1.727000	0.38095	2.464000	0.83262	0.491000	0.48974	CGC		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		7	24	0	0	0	1	0	7	24				
CLEC18B	497190	broad.mit.edu	37	16	74443485	74443485	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74443485C>A	ENST00000339953.5	-	12	1414	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	431	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTGCAGCGCTGGTCGTTCC	0.597																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1291-1293)caG>caT		C-type lectin domain family 18, member B							63.0	60.0	61.0					16																	74443485		2196	4292	6488	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443485C>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1293G>T	16.37:g.74443485C>A	ENSP00000341051:p.Gln431His						p.Q431H	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			12	1414	-			431			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1293G>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009725	0.54361	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.18502	2.21	3.64	-6.24	0.02046	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.078974	0.51477	D	0.000081	T	0.24509	0.0594	L	0.35793	1.09	0.31915	N	0.614181	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.09751	-1.0660	10	0.56958	D	0.05	.	13.3519	0.60607	0.0:0.7967:0.0:0.2033	.	422;431	C9JSV1;Q6UXF7	.;CL18B_HUMAN	H	422;431	ENSP00000341051:Q431H	ENSP00000341051:Q431H	Q	-	3	2	CLEC18B	73000986	0.005000	0.15991	0.918000	0.36340	0.945000	0.59286	-1.564000	0.02152	-1.501000	0.01817	-0.451000	0.05528	CAG		0.597	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		11	71	1	0	0.0332995	1	0.0334892	11	71				
THSD7B	80731	broad.mit.edu	37	2	137917826	137917826	+	Silent	SNP	G	G	A	rs376181717		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:137917826G>A	ENST00000409968.1	+	6	1591	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	471	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1411-1413)ccG>ccA		thrombospondin, type I, domain containing 7B		G		1,4039		0,1,2019	166.0	165.0	165.0		1320	-1.0	0.0	2		165	0,8336		0,0,4168	no	coding-synonymous	THSD7B	NM_001080427.1		0,1,6187	AA,AG,GG		0.0,0.0248,0.0081		440/1578	137917826	1,12375	2020	4168	6188	SO:0001819	synonymous_variant	80731							g.chr2:137917826G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1413G>A	2.37:g.137917826G>A						THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.P440P	p.P471P						BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1591	+									Silent	SNP	ENST00000409968.1	37	c.1413G>A																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		29	29	0	0	0	1	0	29	29				
BCO1	53630	broad.mit.edu	37	16	81298346	81298346	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81298346G>A	ENST00000258168.2	+	5	1034	c.573G>A	c.(571-573)aaG>aaA	p.K191K	BCMO1_ENST00000425577.2_Silent_p.K122K	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TTGTGGAAAAGGGGAAGACAA	0.433																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(571-573)aaG>aaA		beta-carotene 15,15'-monooxygenase 1							129.0	106.0	114.0					16																	81298346		2202	4300	6502	SO:0001819	synonymous_variant	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298346G>A																												ENST00000258168.2:c.573G>A	16.37:g.81298346G>A						BCMO1_ENST00000425577.2_Silent_p.K122K	p.K191K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			5	1034	+			191						Silent	SNP	ENST00000258168.2	37	c.573G>A	CCDS10934.1																																																																																				0.433	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			9	74	0	0	0	1	0	9	74				
NPC1L1	29881	broad.mit.edu	37	7	44553152	44553152	+	Missense_Mutation	SNP	C	C	T	rs371572587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44553152C>T	ENST00000289547.4	-	20	4029	c.3974G>A	c.(3973-3975)cGa>cAa	p.R1325Q	NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1298Q|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R1252Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1325					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTGGAGACTCGGGAGGGGTG	0.582																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3973-3975)cGa>cAa		NPC1-like 1	Ezetimibe(DB00973)	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	118.0	121.0	120.0		3974,3893	-3.6	0.0	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NPC1L1	NM_013389.2,NM_001101648.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1325/1360,1298/1333	44553152	1,13005	2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553152C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3974G>A	7.37:g.44553152C>T	ENSP00000289547:p.Arg1325Gln					NPC1L1_ENST00000546276.1_Missense_Mutation_p.R1252Q|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R1298Q	p.R1325Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			20	4029	-			1325					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3974G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101223	0.06967	0.0	1.16E-4	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.92805	-2.99;-3.02;-3.11	2.77	-3.61	0.04556	.	0.865653	0.09787	N	0.755885	T	0.75989	0.3925	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.63462	-0.6632	10	0.17832	T	0.49	-11.9136	1.4579	0.02389	0.1377:0.166:0.2144:0.4819	.	1252;1298;1325	B7ZLE6;Q17RV5;D3DVK9	.;.;.	Q	1325;1298;1252	ENSP00000289547:R1325Q;ENSP00000370552:R1298Q;ENSP00000438033:R1252Q	ENSP00000289547:R1325Q	R	-	2	0	NPC1L1	44519677	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.675000	0.05227	-0.917000	0.03813	-0.657000	0.03884	CGA		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		12	55	0	0	0	1	0	12	55				
DNAH9	1770	broad.mit.edu	37	17	11757589	11757589	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11757589C>T	ENST00000262442.4	+	50	9845	c.9777C>T	c.(9775-9777)tcC>tcT	p.S3259S	DNAH9_ENST00000454412.2_Silent_p.S3259S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3259	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCAAATCCTATGCGGCTG	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9775-9777)tcC>tcT		dynein, axonemal, heavy chain 9							144.0	137.0	139.0					17																	11757589		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757589C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9777C>T	17.37:g.11757589C>T						DNAH9_ENST00000454412.2_Silent_p.S3259S	p.S3259S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9845	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3259			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.9777C>T	CCDS11160.1																																																																																				0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	146	0	0	0	1	0	4	146				
ABCC10	89845	broad.mit.edu	37	6	43403513	43403513	+	Nonsense_Mutation	SNP	C	C	T	rs143947606	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43403513C>T	ENST00000372530.4	+	5	1848	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	ABCC10_ENST00000244533.3_Nonsense_Mutation_p.R502*	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	545	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCACTGGTGCGAATGCTCAT	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.0					ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1504-1506)Cga>Tga		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	stop/ARG,stop/ARG	7,4399	12.9+/-30.5	0,7,2196	97.0	86.0	90.0		1633,1504	2.4	0.6	6	dbSNP_134	90	0,8600		0,0,4300	yes	stop-gained,stop-gained	ABCC10	NM_001198934.1,NM_033450.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	545/1493,502/1465	43403513	7,12999	2203	4300	6503	SO:0001587	stop_gained	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403513C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1633C>T	6.37:g.43403513C>T	ENSP00000361608:p.Arg545*					ABCC10_ENST00000372530.4_Nonsense_Mutation_p.R545*	p.R502*	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1863	+	all_lung(25;0.00536)		545			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Nonsense_Mutation	SNP	ENST00000372530.4	37	c.1504C>T	CCDS56430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.910067	0.98557	0.001589	0.0	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	.	.	.	5.3	2.44	0.29823	.	0.250759	0.39615	N	0.001316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-43.4071	9.7163	0.40276	0.0:0.3544:0.5532:0.0924	.	.	.	.	X	101;545;502	.	ENSP00000244533:R502X	R	+	1	2	ABCC10	43511491	1.000000	0.71417	0.609000	0.28983	0.768000	0.43524	3.671000	0.54576	0.619000	0.30197	0.462000	0.41574	CGA		0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	9	0	0	0	1	0	8	9				
ITIH3	3699	broad.mit.edu	37	3	52840398	52840398	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52840398C>T	ENST00000449956.2	+	18	2038	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACAGTGCTGCGCCTTATTCA	0.612																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2032-2034)Cgc>Tgc		inter-alpha-trypsin inhibitor heavy chain 3							45.0	45.0	45.0					3																	52840398		1966	4141	6107	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840398C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2032C>T	3.37:g.52840398C>T	ENSP00000415769:p.Arg678Cys					ITIH3_ENST00000416872.2_Intron	p.R678C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	2038	+			678					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2032C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727264	0.48833	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.01745	4.66	5.38	2.05	0.26809	.	0.337826	0.33496	N	0.004854	T	0.04907	0.0132	M	0.74881	2.28	0.40856	D	0.983796	D	0.54397	0.966	P	0.48677	0.586	T	0.38972	-0.9636	10	0.66056	D	0.02	-10.1344	12.7828	0.57487	0.6466:0.3534:0.0:0.0	.	678	Q06033	ITIH3_HUMAN	C	673;678	ENSP00000415769:R678C	ENSP00000273291:R673C	R	+	1	0	ITIH3	52815438	0.797000	0.28877	1.000000	0.80357	0.093000	0.18481	0.444000	0.21661	0.724000	0.32296	0.561000	0.74099	CGC		0.612	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		24	25	0	0	0	1	0	24	25				
RSPO2	340419	broad.mit.edu	37	8	109001440	109001440	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:109001440A>G	ENST00000276659.5	-	3	747	c.127T>C	c.(127-129)Tgt>Cgt	p.C43R	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	43					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAAGACAAACAACCCTTGCAA	0.383																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(127-129)Tgt>Cgt		R-spondin 2							93.0	80.0	84.0					8																	109001440		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001440A>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.127T>C	8.37:g.109001440A>G	ENSP00000276659:p.Cys43Arg					RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR	p.C43R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	747	-			43					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.127T>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018139	0.75275	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.99797	-6.79;-2.02;-6.79;-2.02	4.93	4.93	0.64822	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.95294	3.65	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96599	0.9443	10	0.87932	D	0	-7.4699	14.8819	0.70540	1.0:0.0:0.0:0.0	.	43	Q6UXX9	RSPO2_HUMAN	R	43;43;15;43	ENSP00000276659:C43R;ENSP00000430010:C43R;ENSP00000429159:C15R;ENSP00000430973:C43R	ENSP00000276659:C43R	C	-	1	0	RSPO2	109070616	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.757000	0.91657	1.984000	0.57885	0.460000	0.39030	TGT		0.383	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		15	31	0	0	0	1	0	15	31				
HIC2	23119	broad.mit.edu	37	22	21800813	21800813	+	Silent	SNP	G	G	A	rs41282575	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:21800813G>A	ENST00000443632.2	+	2	2001	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	HIC2_ENST00000407464.2_Silent_p.T543T|HIC2_ENST00000407598.2_Silent_p.T543T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	543					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AAATGTTCACGCAGCGCGGCA	0.632													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18234	0.0		0.0	False		,,,				2504	0.0				NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1627-1629)acG>acA		hypermethylated in cancer 2		G		5,4401	9.9+/-24.2	0,5,2198	71.0	65.0	67.0		1629	-9.0	0.9	22	dbSNP_127	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HIC2	NM_015094.2		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		543/616	21800813	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800813G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1629G>A	22.37:g.21800813G>A						HIC2_ENST00000407598.2_Silent_p.T543T|HIC2_ENST00000407464.2_Silent_p.T543T	p.T543T			Q96JB3	HIC2_HUMAN			2	2001	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	543					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1629G>A	CCDS13789.1																																																																																				0.632	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			17	21	0	0	0	1	0	17	21				
PSAT1	29968	broad.mit.edu	37	9	80921334	80921334	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80921334G>A	ENST00000376588.3	+	5	570	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	PSAT1_ENST00000347159.2_Missense_Mutation_p.V168I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	168					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TATACCCGATGTCAAGGGAGC	0.498																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(502-504)Gtc>Atc		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						381.0	350.0	361.0					9																	80921334		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921334G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.502G>A	9.37:g.80921334G>A	ENSP00000365773:p.Val168Ile					PSAT1_ENST00000347159.2_Missense_Mutation_p.V168I	p.V168I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	570	+			168					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.502G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958475	0.53400	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.84516	-1.86;-1.86	5.85	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.169570	0.52532	N	0.000069	T	0.75243	0.3823	N	0.20574	0.59	0.45822	D	0.998694	B;B	0.19200	0.034;0.001	B;B	0.18871	0.023;0.011	T	0.68899	-0.5287	10	0.21540	T	0.41	-14.7637	14.699	0.69142	0.0692:0.0:0.9308:0.0	.	168;168	Q9Y617-2;Q9Y617	.;SERC_HUMAN	I	168	ENSP00000317606:V168I;ENSP00000365773:V168I	ENSP00000317606:V168I	V	+	1	0	PSAT1	80111154	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.963000	0.56773	1.475000	0.48197	0.655000	0.94253	GTC		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		109	197	0	0	0	1	0	109	197				
TET3	200424	broad.mit.edu	37	2	74328451	74328451	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74328451G>A	ENST00000409262.3	+	9	4131	c.4131G>A	c.(4129-4131)ccG>ccA	p.P1377P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1377					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGCAAACCGTGGAGCCCCT	0.677																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4129-4131)ccG>ccA		tet methylcytosine dioxygenase 3							24.0	31.0	29.0					2																	74328451		1912	4119	6031	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328451G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4131G>A	2.37:g.74328451G>A							p.P1377P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4131	+			1377					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.4131G>A	CCDS46339.1																																																																																				0.677	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	14	0	0	0	1	0	11	14				
SERPINH1	871	broad.mit.edu	37	11	75277586	75277586	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75277586G>T	ENST00000524558.1	+	2	1627	c.192G>T	c.(190-192)gtG>gtT	p.V64V	SERPINH1_ENST00000530284.1_Silent_p.V64V|SERPINH1_ENST00000358171.3_Silent_p.V64V|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Silent_p.V64V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	64					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					ACCAGGCAGTGGAGAACATCC	0.682																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(190-192)gtG>gtT		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							52.0	37.0	42.0					11																	75277586		2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277586G>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.192G>T	11.37:g.75277586G>T						SERPINH1_ENST00000533603.1_Silent_p.V64V|SERPINH1_ENST00000358171.3_Silent_p.V64V|SERPINH1_ENST00000530284.1_Silent_p.V64V	p.V64V			P50454	SERPH_HUMAN			2	1627	+	Ovarian(111;0.11)		64					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.192G>T	CCDS8239.1																																																																																				0.682	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		11	5	1	0	1.58986e-06	1	1.65464e-06	11	5				
C3orf20	84077	broad.mit.edu	37	3	14756916	14756916	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14756916G>T	ENST00000253697.3	+	9	1886	c.1434G>T	c.(1432-1434)aaG>aaT	p.K478N	C3orf20_ENST00000435614.1_Splice_Site_p.K356N|C3orf20_ENST00000412910.1_Splice_Site_p.K356N|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	478						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGGAATACAAGGTAGGGATGG	0.577																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.e9+1		chromosome 3 open reading frame 20							97.0	84.0	89.0					3																	14756916		2203	4300	6503	SO:0001630	splice_region_variant	84077					cytoplasm|integral to membrane		g.chr3:14756916G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1434+1G>T	3.37:g.14756916G>T						C3orf20_ENST00000435614.1_Splice_Site_p.K356_splice|C3orf20_ENST00000412910.1_Splice_Site_p.K356_splice|C3orf20_ENST00000495387.1_3'UTR	p.K478_splice	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			9	1886	+			478					Q7L0U6|Q8NCP2|Q9H0I7	Splice_Site	SNP	ENST00000253697.3	37	c.1434_splice	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837944	0.71373	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.13420	2.59;2.59;2.59	4.32	4.32	0.51571	.	0.000000	0.46442	D	0.000286	T	0.30727	0.0774	M	0.76574	2.34	0.37564	D	0.919166	D	0.64830	0.994	P	0.57776	0.827	T	0.25641	-1.0126	10	0.66056	D	0.02	-24.7578	12.1764	0.54188	0.0:0.0:1.0:0.0	.	478	Q8ND61	CC020_HUMAN	N	478;356;356	ENSP00000253697:K478N;ENSP00000402933:K356N;ENSP00000396081:K356N	ENSP00000253697:K478N	K	+	3	2	C3orf20	14731920	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.277000	0.58939	2.254000	0.74563	0.591000	0.81541	AAG		0.577	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	Missense_Mutation	11	23	1	0	3.27435e-08	1	3.44876e-08	11	23				
SKIV2L	6499	broad.mit.edu	37	6	31928035	31928035	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31928035C>T	ENST00000375394.2	+	4	388	c.275C>T	c.(274-276)gCt>gTt	p.A92V	NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375429.3_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	92					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCTCTTTTGGCTGTCCTGGGA	0.522																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(274-276)gCt>gTt		superkiller viralicidic activity 2-like (S. cerevisiae)							144.0	177.0	165.0					6																	31928035		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31928035C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.275C>T	6.37:g.31928035C>T	ENSP00000364543:p.Ala92Val					SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	p.A92V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			4	388	+			92					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.275C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	3.239	-0.155831	0.06544	.	.	ENSG00000204351	ENST00000375394	T	0.44482	0.92	4.61	0.577	0.17385	.	0.896569	0.09693	N	0.768046	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.31138	-0.9954	10	0.33940	T	0.23	-0.9941	0.2686	0.00228	0.2781:0.2997:0.1509:0.2713	.	92	Q15477	SKIV2_HUMAN	V	92	ENSP00000364543:A92V	ENSP00000364543:A92V	A	+	2	0	SKIV2L	32036014	0.000000	0.05858	0.011000	0.14972	0.123000	0.20343	-0.038000	0.12144	0.200000	0.20447	-0.140000	0.14226	GCT		0.522	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			48	57	0	0	0	1	0	48	57				
HERC6	55008	broad.mit.edu	37	4	89363501	89363501	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89363501T>C	ENST00000264346.7	+	23	3017	c.2958T>C	c.(2956-2958)caT>caC	p.H986H	HERC6_ENST00000380265.5_Silent_p.H950H	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	986	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TAACTTGTCATAATATTCTCT	0.408																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(2848-2850)caT>caC		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							82.0	81.0	82.0					4																	89363501		1964	4157	6121	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89363501T>C	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2958T>C	4.37:g.89363501T>C						HERC6_ENST00000264346.7_Silent_p.H986H	p.H950H	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	22	3033	+		Hepatocellular(203;0.114)	986			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.2850T>C	CCDS47098.1																																																																																				0.408	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			9	10	0	0	0	1	0	9	10				
KIAA1429	25962	broad.mit.edu	37	8	95539163	95539163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95539163G>A	ENST00000297591.5	-	8	1384	c.1309C>T	c.(1309-1311)Caa>Taa	p.Q437*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.Q437*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.Q437*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	437					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTAAAGCTTGCATGGTCCAG	0.398																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1309-1311)Caa>Taa		KIAA1429							102.0	100.0	100.0					8																	95539163		2203	4300	6503	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539163G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1309C>T	8.37:g.95539163G>A	ENSP00000297591:p.Gln437*					KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.Q437*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.Q437*	p.Q437*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1384	-	Breast(36;3.29e-05)		437					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.1309C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869244	0.97897	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.9716	20.1588	0.98128	0.0:0.0:1.0:0.0	.	.	.	.	X	437	.	ENSP00000297591:Q437X	Q	-	1	0	KIAA1429	95608339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.770000	0.95276	0.563000	0.77884	CAA		0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		39	75	0	0	0	1	0	39	75				
CLSTN3	9746	broad.mit.edu	37	12	7303555	7303555	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7303555C>T	ENST00000266546.6	+	16	2873	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	CLSTN3_ENST00000537408.1_Missense_Mutation_p.A820V	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	808					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AACCGGGTTGCCCACCCCAGC	0.642																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2458-2460)gCc>gTc		calsyntenin 3							80.0	63.0	69.0					12																	7303555		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7303555C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2423C>T	12.37:g.7303555C>T	ENSP00000266546:p.Ala808Val					CLSTN3_ENST00000266546.6_Missense_Mutation_p.A808V	p.A820V			Q9BQT9	CSTN3_HUMAN			15	2997	+			808					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2459C>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209667	0.58343	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.35973	1.28;1.28	5.39	5.39	0.77823	.	0.136093	0.51477	D	0.000082	T	0.28101	0.0693	N	0.22421	0.69	0.40211	D	0.977628	P;B	0.39480	0.675;0.08	B;B	0.37144	0.242;0.017	T	0.07986	-1.0744	10	0.41790	T	0.15	-22.4163	17.346	0.87309	0.0:1.0:0.0:0.0	.	820;808	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	V	808;820	ENSP00000266546:A808V;ENSP00000440679:A820V	ENSP00000266546:A808V	A	+	2	0	CLSTN3	7194822	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	4.255000	0.58804	2.510000	0.84645	0.462000	0.41574	GCC		0.642	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		9	13	0	0	0	1	0	9	13				
RAB4B	53916	broad.mit.edu	37	19	41292636	41292636	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41292636C>T	ENST00000594800.1	+	6	657	c.497C>T	c.(496-498)gCc>gTc	p.A166V	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.A166V|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.A166V			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	166					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCAAGTGTGCCCGCACTATC	0.637																																						ENST00000594136.1																			0											c.(496-498)gCc>gTc									80.0	69.0	73.0					19																	41292636		2203	4300	6503	SO:0001583	missense	0							g.chr19:41292636C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.497C>T	19.37:g.41292636C>T	ENSP00000470246:p.Ala166Val					RAB4B_ENST00000594800.1_Missense_Mutation_p.A166V|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.A166V	p.A166V							6	602	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.497C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	14.71	2.617309	0.46736	.	.	ENSG00000167578	ENST00000357052	T	0.79454	-1.27	4.29	3.26	0.37387	.	0.061412	0.64402	N	0.000005	T	0.67429	0.2892	L	0.37561	1.115	0.80722	D	1	P;B	0.35328	0.495;0.257	B;B	0.34536	0.185;0.077	T	0.68941	-0.5276	10	0.72032	D	0.01	.	10.8785	0.46925	0.0:0.9051:0.0:0.0949	.	201;166	P61018-2;P61018	.;RAB4B_HUMAN	V	166	ENSP00000349560:A166V	ENSP00000349560:A166V	A	+	2	0	RAB4B	45984476	1.000000	0.71417	0.945000	0.38365	0.470000	0.32858	7.560000	0.82277	1.021000	0.39600	0.187000	0.17357	GCC		0.637	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		10	18	0	0	0	1	0	10	18				
JADE1	79960	broad.mit.edu	37	4	129783027	129783027	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:129783027C>G	ENST00000226319.6	+	9	1430	c.1150C>G	c.(1150-1152)Cag>Gag	p.Q384E	PHF17_ENST00000511647.1_Missense_Mutation_p.Q384E|PHF17_ENST00000512960.1_Missense_Mutation_p.Q384E|PHF17_ENST00000413543.2_Missense_Mutation_p.Q384E|PHF17_ENST00000452328.2_Missense_Mutation_p.Q372E	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGGCTGCACAGGAGAATGG	0.577																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1150-1152)Cag>Gag									82.0	96.0	91.0					4																	129783027		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783027C>G																												ENST00000226319.6:c.1150C>G	4.37:g.129783027C>G	ENSP00000226319:p.Gln384Glu					PHF17_ENST00000511647.1_Missense_Mutation_p.Q384E|PHF17_ENST00000512960.1_Missense_Mutation_p.Q384E|PHF17_ENST00000413543.2_Missense_Mutation_p.Q384E|PHF17_ENST00000452328.2_Missense_Mutation_p.Q372E	p.Q384E	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1430	+			384						Missense_Mutation	SNP	ENST00000226319.6	37	c.1150C>G	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.950547	0.00475	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.39997	1.2;1.05;1.2;1.2;1.05	5.01	4.16	0.48862	.	0.377550	0.23997	N	0.042516	T	0.30572	0.0769	L	0.34521	1.04	0.25759	N	0.984968	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.17098	0.015;0.003;0.017	T	0.15435	-1.0437	9	.	.	.	.	10.5908	0.45308	0.1498:0.7061:0.1442:0.0	.	372;384;384	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	E	384;384;372;384;384;384	ENSP00000226319:Q384E;ENSP00000423737:Q384E;ENSP00000388015:Q372E;ENSP00000425730:Q384E;ENSP00000404211:Q384E	.	Q	+	1	0	PHF17	130002477	0.975000	0.34042	0.292000	0.24919	0.031000	0.12232	2.390000	0.44416	1.318000	0.45170	0.655000	0.94253	CAG		0.577	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			7	83	0	0	0	1	0	7	83				
EXOC8	149371	broad.mit.edu	37	1	231471746	231471746	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231471746C>T	ENST00000360394.2	-	1	1832	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Silent_p.T578T|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	582					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGGCTTCTGGCGTCATCAAGT	0.458																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1732-1734)acG>acA		exocyst complex component 8							119.0	116.0	117.0					1																	231471746		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471746C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1746G>A	1.37:g.231471746C>T						EXOC8_ENST00000360394.2_Silent_p.T582T	p.T578T			Q8IYI6	EXOC8_HUMAN			1	1852	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	582					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1734G>A	CCDS1593.1																																																																																				0.458	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		12	64	0	0	0	1	0	12	64				
DPY19L2	283417	broad.mit.edu	37	12	64061935	64061935	+	Missense_Mutation	SNP	C	C	T	rs199548963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:64061935C>T	ENST00000324472.4	-	1	422	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	80					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGGAAGGGGCCGAGAAGAAA	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16821	0.0		0.0	False		,,,				2504	0.0					ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(238-240)gGc>gAc		dpy-19-like 2 (C. elegans)							73.0	80.0	77.0					12																	64061935		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061935C>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.239G>A	12.37:g.64061935C>T	ENSP00000315988:p.Gly80Asp					RP11-415I12.3_ENST00000509615.2_RNA	p.G80D	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	422	-			80					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.239G>A	CCDS31851.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.152	0.026689	0.08054	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.37235	1.21;1.96	1.75	-1.51	0.08664	.	.	.	.	.	T	0.18425	0.0442	N	0.19112	0.55	0.19945	N	0.999948	B	0.09022	0.002	B	0.04013	0.001	T	0.25398	-1.0133	8	.	.	.	.	5.1678	0.15094	0.0:0.3702:0.0:0.6298	.	80	Q6NUT2	D19L2_HUMAN	D	80	ENSP00000315988:G80D;ENSP00000444932:G80D	.	G	-	2	0	DPY19L2	62348202	0.380000	0.25131	0.037000	0.18230	0.161000	0.22273	0.053000	0.14184	-0.503000	0.06586	0.195000	0.17529	GGC		0.612	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		23	49	0	0	0	1	0	23	49				
GSG2	83903	broad.mit.edu	37	17	3629159	3629159	+	Missense_Mutation	SNP	C	C	T	rs147510645		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3629159C>T	ENST00000325418.4	+	1	1949	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGCATCACTGCGCTTTGAGCA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		16712	0.001		0.0	False		,,,				2504	0.0					ENST00000325418.4																			0											c.(1930-1932)Cgc>Tgc		germ cell associated 2 (haspin)		C	,CYS/ARG	0,4406		0,0,2203	94.0	83.0	87.0		,1930	-0.2	1.0	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ITGAE,GSG2	NM_002208.4,NM_031965.2	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,644/799	3629159	1,13005	2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629159C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1930C>T	17.37:g.3629159C>T	ENSP00000325290:p.Arg644Cys					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.R644C	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1949	+			644			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1930C>T	CCDS11036.1	6	0.0027472527472527475	0	0.0	0	0.0	4	0.006993006993006993	2	0.002638522427440633	C	9.946	1.218848	0.22373	0.0	1.16E-4	ENSG00000177602	ENST00000325418	T	0.66638	-0.22	4.7	-0.165	0.13355	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.279726	0.28828	N	0.014018	T	0.45637	0.1352	L	0.43757	1.38	0.32992	D	0.525047	B	0.24651	0.108	B	0.24541	0.054	T	0.56866	-0.7908	10	0.87932	D	0	-37.909	8.7574	0.34654	0.4262:0.4355:0.1383:0.0	.	644	Q8TF76	HASP_HUMAN	C	644	ENSP00000325290:R644C	ENSP00000325290:R644C	R	+	1	0	GSG2	3575908	0.092000	0.21681	0.987000	0.45799	0.563000	0.35712	0.223000	0.17719	0.241000	0.21283	-0.181000	0.13052	CGC		0.512	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		28	36	0	0	0	1	0	28	36				
TBC1D24	57465	broad.mit.edu	37	16	2550834	2550834	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2550834G>A	ENST00000293970.5	+	8	1688	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TBC1D24_ENST00000567020.1_Missense_Mutation_p.D513N|TBC1D24_ENST00000434757.2_Missense_Mutation_p.D519N|RP11-20I23.1_ENST00000564543.1_Intron	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	519	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTCTACATCGATGGGGACCT	0.652											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1537-1539)Gat>Aat		TBC1 domain family, member 24							42.0	55.0	50.0					16																	2550834		2146	4238	6384	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550834G>A	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1555G>A	16.37:g.2550834G>A	ENSP00000293970:p.Asp519Asn		OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	604	TBC1D24_ENST00000293970.5_Missense_Mutation_p.D519N|TBC1D24_ENST00000434757.2_Missense_Mutation_p.D519N|RP11-20I23.1_ENST00000564543.1_Intron	p.D513N	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			7	1677	+			519			TLD.		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.1537G>A	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510433	0.85389	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.55234	0.53	5.79	5.79	0.91817	TLDc (2);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.78792	-0.2065	10	0.87932	D	0	-29.7743	18.6215	0.91322	0.0:0.0:1.0:0.0	.	519;513	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	N	513;519	ENSP00000390106:D519N	ENSP00000293970:D513N	D	+	1	0	TBC1D24	2490835	1.000000	0.71417	0.984000	0.44739	0.117000	0.20001	7.639000	0.83342	2.731000	0.93534	0.650000	0.86243	GAT		0.652	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		9	11	0	0	0	1	0	9	11				
NOTCH2	4853	broad.mit.edu	37	1	120484202	120484202	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120484202C>A	ENST00000256646.2	-	18	3147	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	976	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			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)		CAAATCCTGCCTGGCACTTGC	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				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						c.(2926-2928)caG>caT		notch 2							130.0	97.0	108.0					1																	120484202		2203	4300	6503	SO:0001583	missense	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.chr1:120484202C>A	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.2928G>T	1.37:g.120484202C>A	ENSP00000256646:p.Gln976His						p.Q976H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3147	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	976			EGF-like 25; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.2928G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491213	0.64074	.	.	ENSG00000134250	ENST00000256646	T	0.61158	0.13	6.08	2.02	0.26589	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.838765	0.09736	U	0.762487	T	0.52008	0.1708	L	0.56340	1.77	0.35191	D	0.773347	P;P	0.47677	0.899;0.822	P;P	0.59171	0.853;0.549	T	0.46133	-0.9213	10	0.52906	T	0.07	.	6.7709	0.23593	0.2606:0.6059:0.0:0.1335	.	976;976	Q6IQ50;Q04721	.;NOTC2_HUMAN	H	976	ENSP00000256646:Q976H	ENSP00000256646:Q976H	Q	-	3	2	NOTCH2	120285725	0.000000	0.05858	0.899000	0.35326	0.991000	0.79684	-0.096000	0.11059	0.115000	0.18071	-0.218000	0.12543	CAG		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	24	1	0	1.49906e-05	1	1.54943e-05	14	24				
FRMPD1	22844	broad.mit.edu	37	9	37745710	37745710	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37745710G>T	ENST00000539465.1	+	16	4274	c.3681G>T	c.(3679-3681)aaG>aaT	p.K1227N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K1227N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1227						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGGGGATCAAGGCAGAGGCAC	0.507																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3679-3681)aaG>aaT		FERM and PDZ domain containing 1							81.0	85.0	84.0					9																	37745710		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745710G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3681G>T	9.37:g.37745710G>T	ENSP00000444411:p.Lys1227Asn					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K1227N	p.K1227N			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4274	+			1227					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3681G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333670	0.24167	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08282	3.11;3.11	5.06	4.1	0.47936	.	0.437153	0.24762	N	0.035813	T	0.05593	0.0147	L	0.27053	0.805	0.54753	D	0.999989	B	0.33694	0.421	B	0.29785	0.107	T	0.47661	-0.9100	10	0.25751	T	0.34	-14.1681	8.3983	0.32570	0.1208:0.0:0.8792:0.0	.	1227	Q5SYB0	FRPD1_HUMAN	N	1227	ENSP00000366995:K1227N;ENSP00000444411:K1227N	ENSP00000366995:K1227N	K	+	3	2	FRMPD1	37735710	0.000000	0.05858	0.989000	0.46669	0.167000	0.22549	0.316000	0.19469	0.999000	0.39023	0.561000	0.74099	AAG		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	27	1	0	2.70639e-06	1	2.81266e-06	22	27				
TUBB8	347688	broad.mit.edu	37	10	94613	94613	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94613C>T	ENST00000309812.4	-	3	281	c.219G>A	c.(217-219)atG>atA	p.M73I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Nonsense_Mutation_p.W37*|TUBB8_ENST00000447903.2_Start_Codon_SNP_p.M1I	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	73					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCACAGAGTCCATGGTGCCCG	0.697																																					Pancreas(192;2041 3010 9013 18103)	ENST00000332708.5																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(109-111)tGg>tAg		tubulin, beta 8 class VIII							34.0	43.0	40.0					10																	94613		2201	4293	6494	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94613C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.219G>A	10.37:g.94613C>T	ENSP00000311042:p.Met73Ile					TUBB8_ENST00000309812.4_Missense_Mutation_p.M73I|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Start_Codon_SNP_p.M1I	p.W37*			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	2	140	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	351					Q5SQX9|Q8WZ78	Nonsense_Mutation	SNP	ENST00000309812.4	37	c.110G>A	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.640049|2.640049	0.47153|0.47153	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000328974;ENST00000309812|ENST00000332708	T;T|.	0.64085|.	-0.07;-0.08|.	0.109|0.109	0.109|0.109	0.14578|0.14578	Tubulin/FtsZ, GTPase domain (4);|.	0.066913|.	0.53938|.	U|.	0.000042|.	T|.	0.59459|.	0.2195|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.14438|.	0.01|.	B|.	0.20577|.	0.03|.	T|.	0.59193|.	-0.7500|.	9|.	0.87932|0.87932	D|D	0|0	.|.	5.9913|5.9913	0.19465|0.19465	0.0:0.9994:0.0:6.0E-4|0.0:0.9994:0.0:6.0E-4	.|.	73|.	Q3ZCM7|.	TBB8_HUMAN|.	I|X	1;73;73|37	ENSP00000403895:M1I;ENSP00000311042:M73I|.	ENSP00000311042:M73I|ENSP00000371071:W37X	M|W	-|-	3|2	0|0	RP11-631M21.2|RP11-631M21.2	84613|84613	1.000000|1.000000	0.71417|0.71417	0.037000|0.037000	0.18230|0.18230	0.037000|0.037000	0.13140|0.13140	3.701000|3.701000	0.54793|0.54793	0.181000|0.181000	0.19994|0.19994	0.184000|0.184000	0.17185|0.17185	ATG|TGG		0.697	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		15	34	0	0	0	1	0	15	34				
CC2D1B	200014	broad.mit.edu	37	1	52825142	52825142	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:52825142G>A	ENST00000371586.2	-	9	1145	c.1007C>T	c.(1006-1008)cCg>cTg	p.P336L	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P336L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	336						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGGTGCCGGGGGCATGGC	0.622																																						ENST00000371586.2																			0				breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1006-1008)cCg>cTg		coiled-coil and C2 domain containing 1B							40.0	40.0	40.0					1																	52825142		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52825142G>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1007C>T	1.37:g.52825142G>A	ENSP00000360642:p.Pro336Leu					CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P336L|CC2D1B_ENST00000438831.1_5'UTR	p.P336L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN			9	1145	-			336					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1007C>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569053|3.569053	0.65765|0.65765	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573|ENST00000438021;ENST00000450942	T;T|.	0.27104|.	1.69;1.69|.	4.88|4.88	3.97|3.97	0.46021|0.46021	Domain of unknown function DM14 (1);|.	0.195954|.	0.44483|.	D|.	0.000456|.	T|T	0.66056|0.66056	0.2751|0.2751	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.992;0.999|.	P;P|.	0.58970|.	0.644;0.849|.	T|T	0.65776|0.65776	-0.6086|-0.6086	10|5	0.87932|.	D|.	0|.	-11.2311|-11.2311	8.8627|8.8627	0.35267|0.35267	0.0836:0.1503:0.7662:0.0|0.0836:0.1503:0.7662:0.0	.|.	122;336|.	Q5T0G1;Q5T0F9|.	.;C2D1B_HUMAN|.	L|W	336;336;250|123;256	ENSP00000360642:P336L;ENSP00000284376:P336L|.	ENSP00000284376:P336L|.	P|R	-|-	2|1	0|2	CC2D1B|CC2D1B	52597730|52597730	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.873000|0.873000	0.50193|0.50193	5.049000|5.049000	0.64244|0.64244	1.281000|1.281000	0.44480|0.44480	-0.123000|-0.123000	0.14984|0.14984	CCG|CGG		0.622	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		6	29	0	0	0	1	0	6	29				
PTPRE	5791	broad.mit.edu	37	10	129877927	129877927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129877927C>T	ENST00000254667.3	+	20	2275	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	PTPRE_ENST00000306042.5_Nonsense_Mutation_p.R608*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.R666*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	666	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GAAGAGTTTACGACTTCAGAG	0.418																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1996-1998)Cga>Tga		protein tyrosine phosphatase, receptor type, E							98.0	96.0	97.0					10																	129877927		2203	4300	6503	SO:0001587	stop_gained	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877927C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1996C>T	10.37:g.129877927C>T	ENSP00000254667:p.Arg666*					PTPRE_ENST00000306042.5_Nonsense_Mutation_p.R608*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.R666*	p.R666*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2275	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	666			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Nonsense_Mutation	SNP	ENST00000254667.3	37	c.1996C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	39	7.538222	0.98345	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	.	.	.	4.61	1.46	0.22682	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0003	0.64429	0.5512:0.4488:0.0:0.0	.	.	.	.	X	666;666;608	.	ENSP00000254667:R666X	R	+	1	2	PTPRE	129767917	1.000000	0.71417	0.477000	0.27303	0.998000	0.95712	2.009000	0.40903	0.192000	0.20272	0.650000	0.86243	CGA		0.418	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			23	43	0	0	0	1	0	23	43				
HDLBP	3069	broad.mit.edu	37	2	242202169	242202169	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242202169A>T	ENST00000391975.1	-	5	634	c.407T>A	c.(406-408)gTc>gAc	p.V136D	HDLBP_ENST00000391976.2_Missense_Mutation_p.V136D|HDLBP_ENST00000310931.4_Missense_Mutation_p.V136D|HDLBP_ENST00000427183.2_Missense_Mutation_p.V172D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	136					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCTTTCATGACAGCATCCAG	0.532																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(406-408)gTc>gAc		high density lipoprotein binding protein							198.0	172.0	181.0					2																	242202169		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242202169A>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.407T>A	2.37:g.242202169A>T	ENSP00000375836:p.Val136Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.V136D|HDLBP_ENST00000310931.4_Missense_Mutation_p.V136D|HDLBP_ENST00000427183.2_Missense_Mutation_p.V172D	p.V136D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	5	634	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	136					B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.407T>A	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	31|31|31	5.073989|5.073989|5.073989	0.94000|0.94000|0.94000	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000452065;ENST00000444092;ENST00000430918	.|.|T;T;T;T;T;T;T;T;T	.|.|0.68903	.|.|1.61;1.61;1.61;1.59;0.77;0.15;-0.36;-0.12;-0.12	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|D|D	.|0.83741|0.83741	.|0.5320|0.5320	M|M|M	0.85197|0.85197|0.85197	2.74|2.74|2.74	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.76494	.|.|0.999;0.999	.|.|D;D	.|.|0.76071	.|.|0.987;0.98	.|D|D	.|0.86384|0.86384	.|0.1731|0.1731	.|5|10	.|.|0.87932	.|.|D	.|.|0	-56.1868|-56.1868|-56.1868	16.3943|16.3943|16.3943	0.83563|0.83563|0.83563	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|172;136	.|.|E7EM71;Q00341	.|.|.;VIGLN_HUMAN	X|T|D	13|37|136;136;136;172;136;136;136;136;136	.|.|ENSP00000375836:V136D;ENSP00000375837:V136D;ENSP00000312042:V136D;ENSP00000399139:V172D;ENSP00000403807:V136D;ENSP00000405109:V136D;ENSP00000387782:V136D;ENSP00000416559:V136D;ENSP00000403913:V136D	.|.|ENSP00000312042:V136D	C|S|V	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241850842|241850842|241850842	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	9.262000|9.262000|9.262000	0.95591|0.95591|0.95591	2.281000|2.281000|2.281000	0.76405|0.76405|0.76405	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TGT|TCA|GTC		0.532	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		9	51	0	0	0	1	0	9	51				
TNFAIP8	25816	broad.mit.edu	37	5	118728702	118728702	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118728702C>A	ENST00000503646.1	+	3	911	c.223C>A	c.(223-225)Ctc>Atc	p.L75I	TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.L87I|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.L75I|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.L65I|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.L77I			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	75					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CATCAAGAACCTCATCAAGAC	0.408																																						ENST00000504771.2																			0				ovary(1)	1						c.(223-225)Ctc>Atc		tumor necrosis factor, alpha-induced protein 8							70.0	68.0	68.0					5																	118728702		2008	4180	6188	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728702C>A	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.223C>A	5.37:g.118728702C>A	ENSP00000421848:p.Leu75Ile					TNFAIP8_ENST00000504642.1_Missense_Mutation_p.L77I|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.L75I|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.L87I|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.L65I	p.L75I	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	2000	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	75					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.223C>A	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017596	0.54576	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000007	T	0.45418	0.1341	L	0.35854	1.095	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.97	D;D;D	0.85130	0.997;0.997;0.973	T	0.11060	-1.0603	10	0.07482	T	0.82	-17.4039	14.9431	0.71009	0.0:0.9296:0.0:0.0704	.	87;75;65	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	I	65;43;87;75;75;77	ENSP00000274456:L65I;ENSP00000429432:L43I;ENSP00000427424:L87I;ENSP00000422245:L75I;ENSP00000421848:L75I;ENSP00000427160:L77I	ENSP00000274456:L65I	L	+	1	0	TNFAIP8	118756601	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.029000	0.41098	2.748000	0.94277	0.655000	0.94253	CTC		0.408	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		6	8	1	0	0.00116845	1	0.0011864	6	8				
ZWILCH	55055	broad.mit.edu	37	15	66813467	66813467	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66813467C>T	ENST00000307897.5	+	7	1051	c.671C>T	c.(670-672)gCg>gTg	p.A224V	ZWILCH_ENST00000535141.2_Missense_Mutation_p.A110V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A110V|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A110V|RPL4_ENST00000564517.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	224					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCACAAACTGCGATCGCTTTG	0.458																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(670-672)gCg>gTg		zwilch kinetochore protein							269.0	269.0	269.0					15																	66813467		2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66813467C>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.671C>T	15.37:g.66813467C>T	ENSP00000311429:p.Ala224Val					RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A110V|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.A110V|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A110V	p.A224V	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			7	1051	+			224					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.671C>T	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	c	5.233	0.228510	0.09916	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.43294	0.95;0.95;0.95	5.63	2.64	0.31445	.	0.681943	0.15345	N	0.267296	T	0.14399	0.0348	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.14839	-1.0458	10	0.41790	T	0.15	1.3497	1.6539	0.02777	0.1411:0.4695:0.1373:0.252	.	224	Q9H900	ZWILC_HUMAN	V	224;110;110	ENSP00000311429:A224V;ENSP00000402217:A110V;ENSP00000437749:A110V	ENSP00000311429:A224V	A	+	2	0	ZWILCH	64600521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.341000	0.19909	0.281000	0.22233	-0.355000	0.07637	GCG		0.458	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		105	178	0	0	0	1	0	105	178				
CEP135	9662	broad.mit.edu	37	4	56890766	56890766	+	Silent	SNP	G	G	A	rs145993112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56890766G>A	ENST00000257287.4	+	25	3544	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1140					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAAATGTGTAATTATCAG	0.423																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3418-3420)gtG>gtA		centrosomal protein 135kDa		G		0,4406		0,0,2203	186.0	172.0	177.0		3420	-4.8	0.0	4	dbSNP_134	177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP135	NM_025009.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1140/1141	56890766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890766G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3420G>A	4.37:g.56890766G>A							p.V1140V	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			25	3544	+	Glioma(25;0.08)|all_neural(26;0.101)		1140					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.3420G>A	CCDS33986.1																																																																																				0.423	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		70	98	0	0	0	1	0	70	98				
FAM13B	51306	broad.mit.edu	37	5	137288395	137288395	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137288395A>T	ENST00000033079.3	-	16	2237	c.1786T>A	c.(1786-1788)Tcc>Acc	p.S596T	FAM13B_ENST00000425075.2_Missense_Mutation_p.S500T|FAM13B_ENST00000420893.2_Missense_Mutation_p.S596T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	596					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TCACTGTAGGAGGGCTGAAAA	0.348																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1786-1788)Tcc>Acc		family with sequence similarity 13, member B							94.0	99.0	97.0					5																	137288395		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288395A>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1786T>A	5.37:g.137288395A>T	ENSP00000033079:p.Ser596Thr					FAM13B_ENST00000425075.2_Missense_Mutation_p.S500T|FAM13B_ENST00000420893.2_Missense_Mutation_p.S596T	p.S596T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			16	2237	-			596					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1786T>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003730	0.74932	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95342	-3.68;0.88;-3.68	6.05	6.05	0.98169	.	0.055632	0.85682	D	0.000000	D	0.93756	0.8004	L	0.56769	1.78	0.58432	D	0.999994	D;P;P	0.57571	0.98;0.607;0.816	P;B;B	0.49047	0.599;0.146;0.289	D	0.92739	0.6206	10	0.39692	T	0.17	-3.156	11.3614	0.49646	0.8646:0.0:0.0:0.1354	.	500;596;596	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	T	596;500;596	ENSP00000033079:S596T;ENSP00000394669:S500T;ENSP00000388521:S596T	ENSP00000033079:S596T	S	-	1	0	FAM13B	137316294	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.165000	0.71891	2.311000	0.77944	0.528000	0.53228	TCC		0.348	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			39	58	0	0	0	1	0	39	58				
ZMYND15	84225	broad.mit.edu	37	17	4645350	4645350	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4645350C>T	ENST00000433935.1	+	4	1025	c.968C>T	c.(967-969)gCg>gTg	p.A323V	ZMYND15_ENST00000573751.2_Missense_Mutation_p.A323V|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.A323V|ZMYND15_ENST00000592813.1_Missense_Mutation_p.A323V|CXCL16_ENST00000574412.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	323					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGCTTTGAAGCGAAGCTGACA	0.597																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(967-969)gCg>gTg		zinc finger, MYND-type containing 15							60.0	63.0	62.0					17																	4645350		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4645350C>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.968C>T	17.37:g.4645350C>T	ENSP00000391742:p.Ala323Val					ZMYND15_ENST00000269289.6_Missense_Mutation_p.A323V|ZMYND15_ENST00000592813.1_Missense_Mutation_p.A323V|ZMYND15_ENST00000573751.2_Missense_Mutation_p.A323V	p.A323V	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			4	1025	+			323					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.968C>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	C	0.487	-0.877031	0.02550	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.42900	0.96;0.98	5.15	4.08	0.47627	Zinc finger, MYND-type (2);	0.209202	0.32190	N	0.006449	T	0.16557	0.0398	N	0.04959	-0.14	0.22017	N	0.99941	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.0	T	0.31613	-0.9937	10	0.02654	T	1	-12.7828	6.776	0.23621	0.0:0.1792:0.0:0.8208	.	323;323	B4DXY5;Q9H091	.;ZMY15_HUMAN	V	323	ENSP00000391742:A323V;ENSP00000269289:A323V	ENSP00000269289:A323V	A	+	2	0	ZMYND15	4592099	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.076000	0.30729	0.969000	0.38237	-0.414000	0.06135	GCG		0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		24	56	0	0	0	1	0	24	56				
C16orf62	57020	broad.mit.edu	37	16	19693654	19693654	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19693654C>T	ENST00000251143.5	+	28	2481	c.2469C>T	c.(2467-2469)tgC>tgT	p.C823C	C16orf62_ENST00000417362.2_Silent_p.C730C|C16orf62_ENST00000542263.1_Silent_p.C819C|C16orf62_ENST00000448695.1_Silent_p.C673C|C16orf62_ENST00000438132.3_Silent_p.C912C|C16orf62_ENST00000543152.1_Silent_p.C572C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	823						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCTACACCTGCGTCCTGCATC	0.532																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2734-2736)tgC>tgT		chromosome 16 open reading frame 62							141.0	118.0	126.0					16																	19693654		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19693654C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2469C>T	16.37:g.19693654C>T						C16orf62_ENST00000448695.1_Silent_p.C673C|C16orf62_ENST00000543152.1_Silent_p.C572C|C16orf62_ENST00000542263.1_Silent_p.C819C|C16orf62_ENST00000417362.2_Silent_p.C730C|C16orf62_ENST00000251143.5_Silent_p.C823C	p.C912C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			28	2784	+			823					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2736C>T																																																																																					0.532	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		29	41	0	0	0	1	0	29	41				
KAT2A	2648	broad.mit.edu	37	17	40265744	40265744	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40265744C>T	ENST00000225916.5	-	18	2490	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	813	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGGCAGTACTCGCTGTCCGGG	0.617																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(2437-2439)Gag>Aag		K(lysine) acetyltransferase 2A							35.0	35.0	35.0					17																	40265744		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40265744C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2437G>A	17.37:g.40265744C>T	ENSP00000225916:p.Glu813Lys						p.E813K	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			18	2490	-			813			Bromo.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.2437G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727567	0.96847	.	.	ENSG00000108773	ENST00000225916	T	0.30448	1.53	5.03	5.03	0.67393	Bromodomain (6);	0.128495	0.52532	D	0.000068	T	0.55353	0.1915	M	0.84773	2.715	0.80722	D	1	D	0.67145	0.996	P	0.56088	0.791	T	0.63283	-0.6672	10	0.52906	T	0.07	-27.8168	18.4301	0.90622	0.0:1.0:0.0:0.0	.	813	Q92830	KAT2A_HUMAN	K	813	ENSP00000225916:E813K	ENSP00000225916:E813K	E	-	1	0	KAT2A	37519270	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.360000	0.80028	0.556000	0.70494	GAG		0.617	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		23	23	0	0	0	1	0	23	23				
MEIS2	4212	broad.mit.edu	37	15	37188835	37188835	+	Nonsense_Mutation	SNP	G	G	A	rs367563077		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37188835G>A	ENST00000561208.1	-	10	1448	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000338564.5_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*			O14770	MEIS2_HUMAN	Meis homeobox 2	344	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R344*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTGCCTGCTCGATTTGACTGG	0.398																																						ENST00000338564.5																			2	Substitution - Nonsense(2)	p.R344*(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1030-1032)Cga>Tga		Meis homeobox 2							179.0	154.0	163.0					15																	37188835		2201	4297	6498	SO:0001587	stop_gained	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37188835G>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1030C>T	15.37:g.37188835G>A	ENSP00000453793:p.Arg344*					MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000561208.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*	p.R344*	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	11	1476	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	344					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Nonsense_Mutation	SNP	ENST00000561208.1	37	c.1030C>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	40	8.199426	0.98701	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3478	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	344;344;344;344;344;331;331;256;198	.	ENSP00000219869:R198X	R	-	1	2	MEIS2	34976127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CGA		0.398	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		41	45	0	0	0	1	0	41	45				
GOLPH3L	55204	broad.mit.edu	37	1	150621038	150621038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150621038C>T	ENST00000271732.3	-	5	661	c.617G>A	c.(616-618)aGt>aAt	p.S206N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S162N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	206					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTAGTACACTATCTTGAAG	0.458																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(616-618)aGt>aAt		golgi phosphoprotein 3-like							108.0	103.0	105.0					1																	150621038		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150621038C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.617G>A	1.37:g.150621038C>T	ENSP00000271732:p.Ser206Asn					GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S162N	p.S206N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	661	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		206					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.617G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387078	0.82902	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	L	0.60455	1.87	0.54753	D	0.99998	D;D	0.62365	0.964;0.991	P;D	0.74023	0.828;0.982	T	0.73196	-0.4059	9	0.66056	D	0.02	-13.0148	17.9984	0.89191	0.0:1.0:0.0:0.0	.	162;206	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	206;228;162;228	.	ENSP00000271732:S206N	S	-	2	0	GOLPH3L	148887662	0.818000	0.29161	0.996000	0.52242	0.960000	0.62799	2.494000	0.45329	2.832000	0.97577	0.655000	0.94253	AGT		0.458	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		10	30	0	0	0	1	0	10	30				
MS4A5	64232	broad.mit.edu	37	11	60215171	60215171	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60215171C>A	ENST00000300190.2	+	5	628	c.542C>A	c.(541-543)tCt>tAt	p.S181Y		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	181						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TTATTCATTTCTCTGCCTTTC	0.333																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(541-543)tCt>tAt		membrane-spanning 4-domains, subfamily A, member 5							173.0	177.0	176.0					11																	60215171		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60215171C>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.542C>A	11.37:g.60215171C>A	ENSP00000300190:p.Ser181Tyr						p.S181Y	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			5	628	+			181					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.542C>A	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.13|11.13	1.547454|1.547454	0.27652|0.27652	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.03496	.|3.91	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	.|0.625320	.|0.16394	.|N	.|0.216355	T|T	0.19005|0.19005	0.0456|0.0456	M|M	0.85859|0.85859	2.78|2.78	0.30328|0.30328	N|N	0.786882|0.786882	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.01679|0.01679	-1.1297|-1.1297	5|10	.|0.87932	.|D	.|0	-8.5162|-8.5162	12.2923|12.2923	0.54825|0.54825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181	.|Q9H3V2	.|MS4A5_HUMAN	L|Y	103|181	.|ENSP00000300190:S181Y	.|ENSP00000300190:S181Y	F|S	+|+	3|2	2|0	MS4A5|MS4A5	59971747|59971747	0.674000|0.674000	0.27549|0.27549	0.084000|0.084000	0.20598|0.20598	0.069000|0.069000	0.16628|0.16628	3.144000|3.144000	0.50616|0.50616	2.335000|2.335000	0.79485|0.79485	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.333	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			39	63	1	0	1.96642e-18	1	2.17001e-18	39	63				
TRPC3	7222	broad.mit.edu	37	4	122825550	122825550	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122825550T>C	ENST00000379645.3	-	8	2253	c.2180A>G	c.(2179-2181)tAc>tGc	p.Y727C	TRPC3_ENST00000513531.1_Missense_Mutation_p.Y599C|TRPC3_ENST00000264811.5_Missense_Mutation_p.Y654C	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	642					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTACATTGTATATTCCATA	0.318																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1960-1962)tAc>tGc		transient receptor potential cation channel, subfamily C, member 3							96.0	92.0	93.0					4																	122825550		2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122825550T>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2180A>G	4.37:g.122825550T>C	ENSP00000368966:p.Tyr727Cys					TRPC3_ENST00000379645.3_Missense_Mutation_p.Y727C|TRPC3_ENST00000513531.1_Missense_Mutation_p.Y599C	p.Y654C	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			7	2379	-			642					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1961A>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313413	0.81358	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98701	-5.08;-5.08;-5.08	5.52	5.52	0.82312	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99378	0.9781	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98652	1.0680	10	0.87932	D	0	-3.0376	15.9239	0.79597	0.0:0.0:0.0:1.0	.	642;599;727	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	C	654;727;599	ENSP00000264811:Y654C;ENSP00000368966:Y727C;ENSP00000426899:Y599C	ENSP00000264811:Y654C	Y	-	2	0	TRPC3	123045000	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.902000	0.87389	2.207000	0.71202	0.533000	0.62120	TAC		0.318	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		34	122	0	0	0	1	0	34	122				
FAM167B	84734	broad.mit.edu	37	1	32713183	32713183	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32713183C>T	ENST00000373582.3	+	1	350	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	54										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGAGCCAGGCCTGGCGCAGG	0.647																																						ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(160-162)gCc>gTc		family with sequence similarity 167, member B							35.0	44.0	41.0					1																	32713183		1949	4128	6077	SO:0001583	missense	84734							g.chr1:32713183C>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.161C>T	1.37:g.32713183C>T	ENSP00000362684:p.Ala54Val						p.A54V	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	350	+			54					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.161C>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	c	15.63	2.889439	0.52014	.	.	ENSG00000183615	ENST00000373582	T	0.59083	0.29	5.32	4.41	0.53225	.	0.158118	0.41194	U	0.000940	T	0.49184	0.1542	L	0.51422	1.61	0.31887	N	0.617684	B	0.06786	0.001	B	0.04013	0.001	T	0.56117	-0.8032	10	0.51188	T	0.08	-8.3964	8.9814	0.35968	0.1468:0.7774:0.0:0.0758	.	54	Q9BTA0	F167B_HUMAN	V	54	ENSP00000362684:A54V	ENSP00000362684:A54V	A	+	2	0	FAM167B	32485770	0.960000	0.32886	1.000000	0.80357	0.826000	0.46750	2.736000	0.47385	1.391000	0.46566	-0.258000	0.10820	GCC		0.647	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		8	16	0	0	0	1	0	8	16				
KCNA3	3738	broad.mit.edu	37	1	111216429	111216429	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111216429C>T	ENST00000369769.2	-	1	1226	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	335					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGAATGATGGCCACAATGTCG	0.537																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1003-1005)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 3							89.0	88.0	88.0					1																	111216429		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216429C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1003G>A	1.37:g.111216429C>T	ENSP00000358784:p.Ala335Thr						p.A335T	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1226	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	335					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1003G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566626	0.86439	.	.	ENSG00000177272	ENST00000369769	D	0.98684	-5.07	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99239	0.9735	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99616	1.0982	10	0.87932	D	0	.	19.1005	0.93272	0.0:1.0:0.0:0.0	.	335	P22001	KCNA3_HUMAN	T	335	ENSP00000358784:A335T	ENSP00000358784:A335T	A	-	1	0	KCNA3	111017952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	2.516000	0.84829	0.655000	0.94253	GCC		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		22	34	0	0	0	1	0	22	34				
MRPL11	65003	broad.mit.edu	37	11	66203543	66203543	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66203543C>T	ENST00000310999.7	-	5	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_3'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.A146T	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	172					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						AGGAAGATGGCTCGTTCCTTC	0.527																																						ENST00000310999.7																			0				endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						c.(514-516)Gcc>Acc		mitochondrial ribosomal protein L11							58.0	51.0	53.0					11																	66203543		2200	4295	6495	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66203543C>T	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.514G>A	11.37:g.66203543C>T	ENSP00000308897:p.Ala172Thr					MRPL11_ENST00000329819.4_3'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.A146T|MRPL11_ENST00000524576.1_5'UTR	p.A172T	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN			5	607	-			172					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.514G>A	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646116	0.47258	.	.	ENSG00000174547	ENST00000310999;ENST00000430466	.	.	.	5.37	5.37	0.77165	.	0.165679	0.53938	D	0.000060	T	0.37625	0.1010	N	0.08118	0	0.80722	D	1	B;B	0.27229	0.123;0.172	B;B	0.18871	0.023;0.015	T	0.32241	-0.9914	9	0.51188	T	0.08	-15.9218	14.6188	0.68569	0.0:1.0:0.0:0.0	.	146;172	Q9Y3B7-2;Q9Y3B7	.;RM11_HUMAN	T	172;146	.	ENSP00000308897:A172T	A	-	1	0	MRPL11	65960119	0.998000	0.40836	0.989000	0.46669	0.752000	0.42762	3.351000	0.52232	2.502000	0.84385	0.650000	0.86243	GCC		0.527	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		29	35	0	0	0	1	0	29	35				
PRKDC	5591	broad.mit.edu	37	8	48798701	48798701	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48798701C>T	ENST00000314191.2	-	37	4633	c.4577G>A	c.(4576-4578)cGc>cAc	p.R1526H	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1526H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1527	Interaction with C1D.|Leucine-zipper.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTCACAAGGCGCTCACACTG	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4576-4578)cGc>cAc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							40.0	43.0	42.0					8																	48798701		1925	4140	6065	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798701C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4577G>A	8.37:g.48798701C>T	ENSP00000313420:p.Arg1526His					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R1526H	p.R1526H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4633	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1527			Interaction with C1D.|Leucine-zipper.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4577G>A		.	.	.	.	.	.	.	.	.	.	C	9.121	1.008939	0.19199	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02395	4.38;4.31	5.62	-6.49	0.01890	.	1.047270	0.07413	N	0.892661	T	0.01627	0.0052	N	0.03608	-0.345	0.21967	N	0.999445	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.48525	-0.9028	10	0.13853	T	0.58	.	17.9597	0.89082	0.0:0.0854:0.0:0.9146	.	1526;1527	E7EUY0;P78527	.;PRKDC_HUMAN	H	1526	ENSP00000313420:R1526H;ENSP00000345182:R1526H	ENSP00000313420:R1526H	R	-	2	0	PRKDC	48961254	0.545000	0.26449	0.005000	0.12908	0.102000	0.19082	0.247000	0.18179	-1.537000	0.01736	-0.796000	0.03273	CGC		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	8	0	0	0	1	0	5	8				
THSD7A	221981	broad.mit.edu	37	7	11422233	11422233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11422233G>T	ENST00000423059.4	-	24	4673	c.4422C>A	c.(4420-4422)tgC>tgA	p.C1474*	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1474	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATATTCATAGCACTGTCCAT	0.398										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4420-4422)tgC>tgA		thrombospondin, type I, domain containing 7A							88.0	83.0	84.0					7																	11422233		1894	4109	6003	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11422233G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4422C>A	7.37:g.11422233G>T	ENSP00000406482:p.Cys1474*	HNSCC(18;0.044)				AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.C1474*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	24	4673	-			1474			TSP type-1 15.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.4422C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	42	9.489946	0.99186	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.84	-1.66	0.08265	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7911	0.57534	0.3051:0.0:0.6949:0.0	.	.	.	.	X	1474	.	ENSP00000262042:C1474X	C	-	3	2	THSD7A	11388758	0.919000	0.31177	0.989000	0.46669	0.455000	0.32408	0.101000	0.15251	-0.431000	0.07307	-0.350000	0.07774	TGC		0.398	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	8	1	0	0.004672	1	0.00472505	3	8				
ACAA1	30	broad.mit.edu	37	3	38167088	38167088	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38167088C>T	ENST00000333167.8	-	11	1339	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	ACAA1_ENST00000301810.7_Silent_p.T296T|ACAA1_ENST00000480865.1_5'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Silent_p.T348T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	389					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATTGAGCAGCGTGATGACCT	0.627																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1165-1167)acG>acA		acetyl-CoA acyltransferase 1							65.0	61.0	63.0					3																	38167088		2203	4300	6503	SO:0001819	synonymous_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167088C>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1167G>A	3.37:g.38167088C>T						ACAA1_ENST00000450296.1_Silent_p.T348T|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Silent_p.T296T	p.T389T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	11	1339	-			389					G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.1167G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	9.373	1.071081	0.20147	.	.	ENSG00000060971	ENST00000452171;ENST00000421218	.	.	.	5.62	-1.04	0.10068	.	.	.	.	.	T	0.42268	0.1195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	-25.2541	2.6108	0.04890	0.0975:0.3992:0.1686:0.3347	.	.	.	.	H	202;279	.	.	R	-	2	0	ACAA1	38142092	0.000000	0.05858	0.998000	0.56505	0.982000	0.71751	-3.730000	0.00381	0.022000	0.15160	-0.982000	0.02568	CGC		0.627	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		11	26	0	0	0	1	0	11	26				
MAP3K9	4293	broad.mit.edu	37	14	71267462	71267462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:71267462G>A	ENST00000554752.2	-	2	741	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.Q248*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.Q248*	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGCAATCTGCACAGCCCAA	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(742-744)Cag>Tag		mitogen-activated protein kinase kinase kinase 9							114.0	103.0	107.0					14																	71267462		2203	4300	6503	SO:0001587	stop_gained	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267462G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.742C>T	14.37:g.71267462G>A	ENSP00000451612:p.Gln248*					MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.Q248*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.Q248*	p.Q248*			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	741	-			248			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Nonsense_Mutation	SNP	ENST00000554752.2	37	c.742C>T		.	.	.	.	.	.	.	.	.	.	G	41	9.152282	0.99082	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	ENSP00000005198:Q248X	Q	-	1	0	MAP3K9	70337215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.814000	0.96858	0.655000	0.94253	CAG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			41	47	0	0	0	1	0	41	47				
ZMYM3	9203	broad.mit.edu	37	X	70471081	70471081	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70471081C>T	ENST00000353904.2	-	4	912	c.725G>A	c.(724-726)cGc>cAc	p.R242H	ZMYM3_ENST00000314425.5_Missense_Mutation_p.R242H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R244H|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	242					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTCCTAACGCGCTCGCTTCT	0.522																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(724-726)cGc>cAc		zinc finger, MYM-type 3							126.0	106.0	113.0					X																	70471081		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471081C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.725G>A	X.37:g.70471081C>T	ENSP00000343909:p.Arg242His					ZMYM3_ENST00000373984.3_Missense_Mutation_p.R244H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R242H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R242H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R242H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R244H|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R244H	p.R242H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			4	1422	-	Renal(35;0.156)		242					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.725G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.049586	0.75846	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.58358	1.25;0.65;1.25;1.23;1.25;0.35;0.34	4.5	4.5	0.54988	.	0.222106	0.31976	N	0.006776	T	0.61085	0.2319	L	0.29908	0.895	0.41406	D	0.987709	D;D;D	0.89917	1.0;0.999;0.998	P;D;P	0.68353	0.902;0.957;0.906	T	0.66064	-0.6016	10	0.59425	D	0.04	-10.8369	16.6057	0.84828	0.0:1.0:0.0:0.0	.	242;242;242	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	H	242;242;242;244;244;244;242;244	ENSP00000322845:R242H;ENSP00000363110:R242H;ENSP00000343909:R242H;ENSP00000363096:R244H;ENSP00000363100:R244H;ENSP00000363094:R244H;ENSP00000363093:R242H	ENSP00000322845:R242H	R	-	2	0	ZMYM3	70387806	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.894000	0.63206	2.091000	0.63221	0.519000	0.50382	CGC		0.522	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		13	5	0	0	0	1	0	13	5				
PLXNB2	23654	broad.mit.edu	37	22	50716563	50716563	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50716563G>A	ENST00000449103.1	-	31	5010	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624W			O15031	PLXB2_HUMAN	plexin B2	1624					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAGCAGCCGCGTCAGGTAG	0.692																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4870-4872)Cgg>Tgg		plexin B2							31.0	33.0	32.0					22																	50716563		2154	4248	6402	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716563G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4870C>T	22.37:g.50716563G>A	ENSP00000409171:p.Arg1624Trp					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624W	p.R1624W			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5010	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1624					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4870C>T	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.849940|1.849940	0.32699|0.32699	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000399991;ENST00000399964|ENST00000449103;ENST00000359337;ENST00000411680	.|T;T;T	.|0.19250	.|2.16;2.16;2.16	4.7|4.7	-1.93|-1.93	0.07594|0.07594	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.51312|0.51312	0.1667|0.1667	M|M	0.90650|0.90650	3.135|3.135	0.39659|0.39659	D|D	0.970585|0.970585	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.66854|0.66854	-0.5818|-0.5818	6|10	0.62326|0.87932	D|D	0.03|0	.|.	17.5485|17.5485	0.87870|0.87870	0.0:0.0:0.2296:0.7704|0.0:0.0:0.2296:0.7704	.|.	.|1624	.|O15031	.|PLXB2_HUMAN	V|W	95;254|1624;1624;176	.|ENSP00000409171:R1624W;ENSP00000352288:R1624W;ENSP00000400679:R176W	ENSP00000382845:A254V|ENSP00000352288:R1624W	A|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49058690|49058690	0.434000|0.434000	0.25570|0.25570	0.066000|0.066000	0.19879|0.19879	0.284000|0.284000	0.27059|0.27059	0.662000|0.662000	0.25038|0.25038	-0.418000|-0.418000	0.07450|0.07450	-1.835000|-1.835000	0.00590|0.00590	GCG|CGG		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	22	0	0	0	1	0	4	22				
PROKR1	10887	broad.mit.edu	37	2	68882132	68882132	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68882132C>T	ENST00000303786.3	+	3	1026	c.606C>T	c.(604-606)acC>acT	p.T202T	PROKR1_ENST00000394342.2_Silent_p.T202T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	202					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.T202T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTCACCACCGAGACGGTCC	0.557																																						ENST00000303786.3																			1	Substitution - coding silent(1)	p.T202T(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(604-606)acC>acT		prokineticin receptor 1							171.0	146.0	155.0					2																	68882132		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882132C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.606C>T	2.37:g.68882132C>T						PROKR1_ENST00000394342.2_Silent_p.T202T	p.T202T			Q8TCW9	PKR1_HUMAN			3	1026	+			202					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.606C>T	CCDS1889.1																																																																																				0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			36	58	0	0	0	1	0	36	58				
ST8SIA3	51046	broad.mit.edu	37	18	55020209	55020209	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:55020209C>T	ENST00000324000.3	+	1	2166	c.132C>T	c.(130-132)taC>taT	p.Y44Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	44					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTCCCAAGTACGCCAGCCCGG	0.582																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(130-132)taC>taT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							69.0	70.0	69.0					18																	55020209		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020209C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.132C>T	18.37:g.55020209C>T							p.Y44Y	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	2166	+			44					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.132C>T	CCDS32834.1																																																																																				0.582	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		21	23	0	0	0	1	0	21	23				
ATF6	22926	broad.mit.edu	37	1	161789584	161789584	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161789584G>A	ENST00000367942.3	+	8	1138	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	357	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CACTGAAGCGGCAGCTGGATG	0.413																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1069-1071)cgG>cgA		activating transcription factor 6							57.0	56.0	57.0					1																	161789584		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789584G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1071G>A	1.37:g.161789584G>A							p.R357R	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1138	+	all_hematologic(112;0.156)		357			Leucine-zipper.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1071G>A	CCDS1235.1																																																																																				0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		5	23	0	0	0	1	0	5	23				
GOSR2	9570	broad.mit.edu	37	17	45012589	45012589	+	Intron	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45012589A>G	ENST00000393456.2	+	5	534				GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000415811.2_Silent_p.Q177Q	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GCCTCATCCAACAGTTTAGTA	0.448																																						ENST00000415811.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(529-531)caA>caG		golgi SNAP receptor complex member 2							64.0	68.0	67.0					17																	45012589		1327	2309	3636	SO:0001627	intron_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45012589A>G	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.477+54A>G	17.37:g.45012589A>G						GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000393456.2_Intron|GOSR2_ENST00000225567.4_Intron|GOSR2_ENST00000439730.2_Intron	p.Q177Q	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	586	+			172					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	c.531A>G	CCDS42355.1																																																																																				0.448	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			10	22	0	0	0	1	0	10	22				
DYRK1B	9149	broad.mit.edu	37	19	40316606	40316606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40316606G>A	ENST00000593685.1	-	11	2107	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	DYRK1B_ENST00000430012.2_Nonsense_Mutation_p.R507*|DYRK1B_ENST00000348817.3_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000597639.1_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000323039.5_Nonsense_Mutation_p.R547*			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	547					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCAAGGTATCGGGGCTGGGGG	0.687																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1639-1641)Cga>Tga		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							23.0	29.0	27.0					19																	40316606		2161	4242	6403	SO:0001587	stop_gained	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316606G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1639C>T	19.37:g.40316606G>A	ENSP00000469863:p.Arg547*					DYRK1B_ENST00000597639.1_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000348817.3_Nonsense_Mutation_p.R519*|DYRK1B_ENST00000323039.5_Nonsense_Mutation_p.R547*|DYRK1B_ENST00000430012.2_Nonsense_Mutation_p.R507*	p.R547*			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2107	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		547					O75258|O75788|O75789	Nonsense_Mutation	SNP	ENST00000593685.1	37	c.1639C>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	39	7.659000	0.98415	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	.	.	.	5.01	5.01	0.66863	.	0.442996	0.22299	N	0.061893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8016	0.78456	0.0:0.0:1.0:0.0	.	.	.	.	X	547;519;507	.	ENSP00000312789:R547X	R	-	1	2	DYRK1B	45008446	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.010000	0.70753	2.289000	0.77006	0.462000	0.41574	CGA		0.687	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		19	26	0	0	0	1	0	19	26				
WWC1	23286	broad.mit.edu	37	5	167798441	167798441	+	Silent	SNP	G	G	A	rs142947087	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167798441G>A	ENST00000265293.4	+	2	634	c.132G>A	c.(130-132)ccG>ccA	p.P44P	WWC1_ENST00000521089.1_Silent_p.P44P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	44					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACACCAAACCGCTCACCTTTG	0.517																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(130-132)ccG>ccA		WW and C2 domain containing 1		G	,,	0,4406		0,0,2203	194.0	134.0	154.0		132,132,132	-4.6	1.0	5	dbSNP_134	154	2,8598	2.2+/-6.3	1,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	,,	44/1120,44/1119,44/1114	167798441	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167798441G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.132G>A	5.37:g.167798441G>A						WWC1_ENST00000521089.1_Silent_p.P44P	p.P44P	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	2	634	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	44					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.132G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412274	0.25465	0.0	2.33E-4	ENSG00000113645	ENST00000393895	.	.	.	5.63	-4.63	0.03359	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	.	4.3377	0.11094	0.5552:0.2053:0.1433:0.0962	.	.	.	.	T	6	.	.	A	+	1	0	WWC1	167731019	0.029000	0.19370	0.977000	0.42913	0.997000	0.91878	-0.777000	0.04669	-0.577000	0.05967	0.561000	0.74099	GCT		0.517	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		6	12	0	0	0	1	0	6	12				
OR2T29	343563	broad.mit.edu	37	1	248722771	248722771	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248722771C>T	ENST00000328570.3	-	1	26	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGTTGGCCATCCTGGTG	0.468																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(22-24)Gcc>Acc		olfactory receptor, family 2, subfamily T, member 29							91.0	73.0	79.0					1																	248722771		2203	4298	6501	SO:0001583	missense	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722771C>T		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.22G>A	1.37:g.248722771C>T	ENSP00000331774:p.Ala8Thr					RP11-438F14.3_ENST00000438623.1_RNA	p.A8T	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	26	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8						Missense_Mutation	SNP	ENST00000328570.3	37	c.22G>A	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	c	5.423	0.263123	0.10294	.	.	ENSG00000182783	ENST00000328570	T	0.20200	2.09	2.34	-1.67	0.08238	.	1.741580	0.03350	N	0.196043	T	0.11750	0.0286	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16808	-1.0390	10	0.14656	T	0.56	.	2.4275	0.04463	0.4064:0.3196:0.0:0.274	.	8	Q8NH02	O2T29_HUMAN	T	8	ENSP00000331774:A8T	ENSP00000331774:A8T	A	-	1	0	OR2T29	246789394	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.853000	0.04303	-0.530000	0.06349	0.134000	0.15878	GCC		0.468	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		4	34	0	0	0	1	0	4	34				
CUL1	8454	broad.mit.edu	37	7	148457470	148457470	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:148457470C>T	ENST00000325222.4	+	7	950	c.671C>T	c.(670-672)aCg>aTg	p.T224M	CUL1_ENST00000409469.1_Missense_Mutation_p.T224M|CUL1_ENST00000602748.1_Missense_Mutation_p.T224M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	224					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)				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)			AAGGGCCCTACGTTAACAGTG	0.358																																						ENST00000325222.4																			0				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						c.(670-672)aCg>aTg		cullin 1							123.0	140.0	134.0					7																	148457470		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.chr7:148457470C>T	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.671C>T	7.37:g.148457470C>T	ENSP00000326804:p.Thr224Met					CUL1_ENST00000602748.1_Missense_Mutation_p.T224M|CUL1_ENST00000409469.1_Missense_Mutation_p.T224M	p.T224M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	950	+	Melanoma(164;0.15)		224					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.671C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199135	0.58126	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74526	-0.85;-0.85	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.047325	0.85682	D	0.000000	T	0.66607	0.2806	L	0.39467	1.215	0.80722	D	1	B	0.31153	0.31	B	0.24269	0.052	T	0.68307	-0.5443	10	0.52906	T	0.07	-12.7386	17.2933	0.87163	0.0:1.0:0.0:0.0	.	224	Q13616	CUL1_HUMAN	M	224;224;182;151	ENSP00000387160:T224M;ENSP00000326804:T224M	ENSP00000326804:T224M	T	+	2	0	CUL1	148088403	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.377000	0.81083	0.585000	0.79938	ACG		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		45	77	0	0	0	1	0	45	77				
RLN2	6019	broad.mit.edu	37	9	5300248	5300248	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5300248T>C	ENST00000381627.3	-	2	796	c.408A>G	c.(406-408)agA>agG	p.R136R	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	136					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTTCACTTTGTCTATTGCGAA	0.383																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(406-408)agA>agG		relaxin 2							120.0	120.0	120.0					9																	5300248		2203	4300	6503	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300248T>C		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.408A>G	9.37:g.5300248T>C						RLN2_ENST00000308420.3_3'UTR	p.R136R	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	796	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	136					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.408A>G	CCDS6460.1																																																																																				0.383	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		51	68	0	0	0	1	0	51	68				
PLD2	5338	broad.mit.edu	37	17	4725959	4725959	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4725959G>A	ENST00000263088.6	+	25	2733	c.2602G>A	c.(2602-2604)Gcc>Acc	p.A868T	PLD2_ENST00000572940.1_Missense_Mutation_p.A857T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	868					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCATCCAATGCCACGCGTTC	0.642																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2602-2604)Gcc>Acc		phospholipase D2	Choline(DB00122)						53.0	49.0	51.0					17																	4725959		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4725959G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2602G>A	17.37:g.4725959G>A	ENSP00000263088:p.Ala868Thr					PLD2_ENST00000572940.1_Missense_Mutation_p.A857T	p.A868T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			25	2733	+			868					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2602G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659949	0.29515	.	.	ENSG00000129219	ENST00000263088	T	0.06294	3.32	5.64	5.64	0.86602	.	0.114571	0.64402	D	0.000015	T	0.05640	0.0148	N	0.20401	0.57	0.39148	D	0.962174	B;B	0.17852	0.024;0.006	B;B	0.25884	0.064;0.008	T	0.39099	-0.9630	10	0.09843	T	0.71	-25.8773	17.1963	0.86893	0.0:0.0:1.0:0.0	.	857;868	O14939-2;O14939	.;PLD2_HUMAN	T	868	ENSP00000263088:A868T	ENSP00000263088:A868T	A	+	1	0	PLD2	4672926	0.962000	0.33011	0.981000	0.43875	0.926000	0.56050	2.006000	0.40874	2.664000	0.90586	0.561000	0.74099	GCC		0.642	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		32	23	0	0	0	1	0	32	23				
TRIP11	9321	broad.mit.edu	37	14	92477386	92477386	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92477386G>A	ENST00000267622.4	-	9	1631	c.1258C>T	c.(1258-1260)Ctt>Ttt	p.L420F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	420					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CGCATTTTAAGTTTCAGATTG	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1258-1260)Ctt>Ttt		thyroid hormone receptor interactor 11							129.0	115.0	119.0					14																	92477386		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92477386G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1258C>T	14.37:g.92477386G>A	ENSP00000267622:p.Leu420Phe						p.L420F	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	9	1631	-			420					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1258C>T	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738381	0.49045	.	.	ENSG00000100815	ENST00000267622	T	0.64260	-0.09	5.67	4.78	0.61160	.	0.246154	0.35585	N	0.003111	T	0.51822	0.1697	L	0.48362	1.52	0.37023	D	0.89629	P	0.37864	0.61	B	0.37780	0.258	T	0.54892	-0.8225	10	0.22109	T	0.4	.	9.0298	0.36252	0.1684:0.0:0.8316:0.0	.	420	Q15643	TRIPB_HUMAN	F	420	ENSP00000267622:L420F	ENSP00000267622:L420F	L	-	1	0	TRIP11	91547139	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	2.666000	0.46799	1.525000	0.49052	0.655000	0.94253	CTT		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			19	37	0	0	0	1	0	19	37				
TIRAP	114609	broad.mit.edu	37	11	126162971	126162971	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162971G>A	ENST00000392680.2	+	5	1051				TIRAP_ENST00000392678.3_Missense_Mutation_p.E223K|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Intron|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		ACAGGAGGGAGAAGGGGAACG	0.498																																						ENST00000392678.3																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(667-669)Gaa>Aaa		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							55.0	60.0	58.0					11																	126162971		2158	4262	6420	SO:0001627	intron_variant	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162971G>A	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.646+21G>A	11.37:g.126162971G>A						TIRAP_ENST00000392679.1_Intron|TIRAP_ENST00000392680.2_Intron|RP11-712L6.7_ENST00000533378.1_RNA	p.E223K	NM_148910.2	NP_683708.1	P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	5	1096	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	0					B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	c.667G>A	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947020	0.34377	.	.	ENSG00000150455	ENST00000392678	T	0.09445	2.98	5.68	-2.78	0.05859	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43637	-0.9379	7	.	.	.	.	5.2496	0.15515	0.2021:0.0:0.5295:0.2684	.	223	Q56UH9	.	K	223	ENSP00000376445:E223K	.	E	+	1	0	TIRAP	125668181	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	0.140000	0.16056	-0.725000	0.04901	0.655000	0.94253	GAA		0.498	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		11	13	0	0	0	1	0	11	13				
PLA2G15	23659	broad.mit.edu	37	16	68293284	68293284	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68293284G>A	ENST00000219345.5	+	6	1046	c.963G>A	c.(961-963)acG>acA	p.T321T	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Silent_p.T121T|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Silent_p.T227T|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	321					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TGGAAGCCACGATGCCACCTG	0.567																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(961-963)acG>acA		phospholipase A2, group XV							95.0	80.0	85.0					16																	68293284		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293284G>A	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.963G>A	16.37:g.68293284G>A						PLA2G15_ENST00000413021.2_Silent_p.T227T|PLA2G15_ENST00000444212.2_Silent_p.T121T|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_3'UTR	p.T321T	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	1046	+			321					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Silent	SNP	ENST00000219345.5	37	c.963G>A	CCDS10864.1																																																																																				0.567	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		14	39	0	0	0	1	0	14	39				
NWD1	284434	broad.mit.edu	37	19	16908688	16908688	+	Silent	SNP	G	G	A	rs564519901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16908688G>A	ENST00000552788.1	+	14	3450	c.3450G>A	c.(3448-3450)gcG>gcA	p.A1150A	NWD1_ENST00000549814.1_Silent_p.A1150A|NWD1_ENST00000339803.6_Silent_p.A1015A|NWD1_ENST00000379808.3_Silent_p.A1150A|NWD1_ENST00000523826.1_Silent_p.A944A|NWD1_ENST00000524140.2_Silent_p.A1150A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1150							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTTGATGCGCTCATTCAGG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18506	0.001		0.0	False		,,,				2504	0.0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3448-3450)gcG>gcA		NACHT and WD repeat domain containing 1							236.0	217.0	223.0					19																	16908688		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16908688G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3450G>A	19.37:g.16908688G>A						NWD1_ENST00000339803.6_Silent_p.A1015A|NWD1_ENST00000523826.1_Silent_p.A944A|NWD1_ENST00000552788.1_Silent_p.A1150A|NWD1_ENST00000379808.3_Silent_p.A1150A|NWD1_ENST00000549814.1_Silent_p.A1150A	p.A1150A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3868	+			1150					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3450G>A																																																																																					0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		63	108	0	0	0	1	0	63	108				
MAST3	23031	broad.mit.edu	37	19	18260483	18260483	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18260483G>A	ENST00000262811.6	+	27	3877	c.3877G>A	c.(3877-3879)Gtg>Atg	p.V1293M	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1293							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGATCGCCGTGGAGGGCGA	0.622																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3877-3879)Gtg>Atg		microtubule associated serine/threonine kinase 3							28.0	31.0	30.0					19																	18260483		2055	4183	6238	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18260483G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3877G>A	19.37:g.18260483G>A	ENSP00000262811:p.Val1293Met					AC007192.6_ENST00000600364.1_RNA	p.V1293M	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			27	3877	+			1293					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3877G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858942	0.51376	.	.	ENSG00000099308	ENST00000262811	T	0.69175	-0.38	4.56	3.43	0.39272	.	0.759330	0.11193	N	0.589677	T	0.59088	0.2168	L	0.50333	1.59	0.36055	D	0.841035	D	0.54772	0.968	B	0.39876	0.312	T	0.69146	-0.5222	10	0.52906	T	0.07	-26.2681	11.4033	0.49883	0.0:0.1835:0.8165:0.0	.	1293	O60307	MAST3_HUMAN	M	1293	ENSP00000262811:V1293M	ENSP00000262811:V1293M	V	+	1	0	MAST3	18121483	1.000000	0.71417	0.930000	0.37139	0.424000	0.31475	4.292000	0.59031	2.245000	0.73994	0.313000	0.20887	GTG		0.622	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		11	24	0	0	0	1	0	11	24				
SPTBN2	6712	broad.mit.edu	37	11	66461832	66461832	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66461832C>T	ENST00000533211.1	-	22	4612	c.4281G>A	c.(4279-4281)atG>atA	p.M1427I	SPTBN2_ENST00000529997.1_Missense_Mutation_p.M1427I|SPTBN2_ENST00000309996.2_Missense_Mutation_p.M1427I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1427					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCATTCCAGCATCTGCAAAC	0.597											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4279-4281)atG>atA		spectrin, beta, non-erythrocytic 2							53.0	42.0	46.0					11																	66461832		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66461832C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4281G>A	11.37:g.66461832C>T	ENSP00000432568:p.Met1427Ile		OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	SPTBN2_ENST00000309996.2_Missense_Mutation_p.M1427I|SPTBN2_ENST00000529997.1_Missense_Mutation_p.M1427I	p.M1427I			O15020	SPTN2_HUMAN			22	4612	-			1427					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4281G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505871	0.64410	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49432	0.78;0.78;0.78	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.39326	1.205	0.80722	D	1	B	0.20368	0.044	B	0.17098	0.017	T	0.24225	-1.0166	10	0.33940	T	0.23	.	16.1259	0.81395	0.0:1.0:0.0:0.0	.	1427	O15020	SPTN2_HUMAN	I	1427	ENSP00000432568:M1427I;ENSP00000311489:M1427I;ENSP00000433593:M1427I	ENSP00000311489:M1427I	M	-	3	0	SPTBN2	66218408	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.601000	0.82783	2.328000	0.79073	0.462000	0.41574	ATG		0.597	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	17	0	0	0	1	0	9	17				
RBM44	375316	broad.mit.edu	37	2	238732966	238732966	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238732966T>C	ENST00000409864.1	+	10	2610	c.2356T>C	c.(2356-2358)Tgg>Cgg	p.W786R	RBM44_ENST00000316997.4_Missense_Mutation_p.W786R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	785						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.W786R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAGCGAAGACTGGTCTGATGC	0.443																																						ENST00000316997.4																			1	Substitution - Missense(1)	p.W786R(1)	ovary(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2356-2358)Tgg>Cgg		RNA binding motif protein 44							124.0	126.0	125.0					2																	238732966		1978	4162	6140	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238732966T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2356T>C	2.37:g.238732966T>C	ENSP00000386727:p.Trp786Arg					RBM44_ENST00000409864.1_Missense_Mutation_p.W786R	p.W786R	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	10	2488	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	785					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.2356T>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557616	0.65425	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.61274	0.12;0.12	5.32	5.32	0.75619	.	.	.	.	.	T	0.74566	0.3733	M	0.76574	2.34	0.38993	D	0.959187	D	0.89917	1.0	D	0.85130	0.997	T	0.79509	-0.1774	9	0.87932	D	0	-4.9625	12.6551	0.56784	0.0:0.0:0.0:1.0	.	785	Q6ZP01	RBM44_HUMAN	R	786	ENSP00000321179:W786R;ENSP00000386727:W786R	ENSP00000321179:W786R	W	+	1	0	RBM44	238397705	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.498000	0.60373	2.018000	0.59344	0.528000	0.53228	TGG		0.443	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		9	16	0	0	0	1	0	9	16				
PCDHA6	56142	broad.mit.edu	37	5	140209590	140209590	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140209590C>T	ENST00000529310.1	+	1	2028	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCCTGGACGAAGCGGACT	0.667																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1912-1914)gaC>gaT									60.0	68.0	65.0					5																	140209590		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209590C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1914C>T	5.37:g.140209590C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.D638D	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2028	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1914C>T	CCDS47281.1																																																																																				0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		27	58	0	0	0	1	0	27	58				
PIAS4	51588	broad.mit.edu	37	19	4013216	4013216	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4013216A>G	ENST00000262971.2	+	2	438	c.323A>G	c.(322-324)tAc>tGc	p.Y108C		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	108					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AATATTGACTACCCCGTGCTC	0.627																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(322-324)tAc>tGc		protein inhibitor of activated STAT, 4							56.0	63.0	60.0					19																	4013216		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4013216A>G	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.323A>G	19.37:g.4013216A>G	ENSP00000262971:p.Tyr108Cys						p.Y108C	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	438	+			108					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.323A>G	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115763	0.56505	.	.	ENSG00000105229	ENST00000262971	T	0.31510	1.49	5.14	4.09	0.47781	.	0.264599	0.38272	N	0.001759	T	0.33265	0.0857	N	0.22421	0.69	0.39356	D	0.965839	D	0.64830	0.994	P	0.57911	0.829	T	0.10177	-1.0641	10	0.49607	T	0.09	-25.7961	10.2637	0.43443	0.8517:0.0:0.0:0.1483	.	108	Q8N2W9	PIAS4_HUMAN	C	108	ENSP00000262971:Y108C	ENSP00000262971:Y108C	Y	+	2	0	PIAS4	3964216	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.899000	0.48679	0.742000	0.32697	0.459000	0.35465	TAC		0.627	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		21	35	0	0	0	1	0	21	35				
SCN1B	6324	broad.mit.edu	37	19	35523489	35523489	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35523489G>A	ENST00000262631.5	+	2	235	c.98G>A	c.(97-99)gGg>gAg	p.G33E	SCN1B_ENST00000595652.1_Missense_Mutation_p.G33E|SCN1B_ENST00000415950.3_Missense_Mutation_p.G33E|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	33	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCGTGTATGGGATGACCTTC	0.622																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(97-99)gGg>gAg		sodium channel, voltage-gated, type I, beta subunit							140.0	133.0	135.0					19																	35523489		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523489G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.98G>A	19.37:g.35523489G>A	ENSP00000262631:p.Gly33Glu					SCN1B_ENST00000415950.3_Missense_Mutation_p.G33E|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.G33E	p.G33E	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	235	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		33			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.98G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291535	0.40494	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.43688	0.94;0.94	3.82	3.82	0.43975	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.71036	2.16	0.80722	D	1	B;D;D	0.89917	0.241;1.0;1.0	B;D;D	0.97110	0.286;0.999;1.0	T	0.64875	-0.6304	10	0.87932	D	0	-52.1346	11.0836	0.48074	0.0:0.0:1.0:0.0	.	33;33;33	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	E	33	ENSP00000262631:G33E;ENSP00000396915:G33E	ENSP00000262631:G33E	G	+	2	0	SCN1B	40215329	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	4.547000	0.60712	1.969000	0.57287	0.563000	0.77884	GGG		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			11	63	0	0	0	1	0	11	63				
RBM33	155435	broad.mit.edu	37	7	155534615	155534615	+	Missense_Mutation	SNP	G	G	A	rs148804732		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155534615G>A	ENST00000401878.3	+	13	2350	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	718							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GCCGTCACACGTGATAGAAAT	0.577																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2152-2154)Gtg>Atg		RNA binding motif protein 33		G	MET/VAL	0,4406		0,0,2203	90.0	90.0	90.0		2152	5.9	0.2	7	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	missense	RBM33	NM_053043.2	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	718/1171	155534615	2,13004	2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155534615G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2152G>A	7.37:g.155534615G>A	ENSP00000384160:p.Val718Met						p.V718M	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2350	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	718					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2152G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237947	0.39598	0.0	2.33E-4	ENSG00000184863	ENST00000401878	T	0.48836	0.8	5.88	5.88	0.94601	.	0.099197	0.44285	D	0.000471	T	0.63498	0.2516	L	0.56769	1.78	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.70487	0.754;0.969	T	0.58451	-0.7634	10	0.34782	T	0.22	.	14.9946	0.71421	0.0:0.0:0.8575:0.1425	.	435;718	B4DVQ2;Q96EV2	.;RBM33_HUMAN	M	718	ENSP00000384160:V718M	ENSP00000384160:V718M	V	+	1	0	RBM33	155227376	0.933000	0.31639	0.199000	0.23439	0.013000	0.08279	3.403000	0.52615	2.790000	0.95986	0.591000	0.81541	GTG		0.577	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		26	33	0	0	0	1	0	26	33				
OGFOD3	79701	broad.mit.edu	37	17	80364301	80364301	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80364301G>T	ENST00000313056.5	-	5	632	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	OGFOD3_ENST00000329197.5_Missense_Mutation_p.L161M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	161						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CACCTGTACAGGTTCACAAAG	0.567																																						ENST00000313056.5																			0											c.(481-483)Ctg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							105.0	89.0	95.0					17																	80364301		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80364301G>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.481C>A	17.37:g.80364301G>T	ENSP00000320116:p.Leu161Met					OGFOD3_ENST00000329197.5_Missense_Mutation_p.L161M	p.L161M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					5	632	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.481C>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644255	0.47258	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.37915	1.65;1.17	4.7	4.7	0.59300	Prolyl 4-hydroxylase, alpha subunit (1);	0.145172	0.45361	D	0.000370	T	0.30634	0.0771	L	0.45581	1.43	0.43000	D	0.994516	B;B	0.29988	0.068;0.264	B;B	0.27715	0.03;0.082	T	0.10177	-1.0641	10	0.35671	T	0.21	-12.5825	11.806	0.52155	0.0:0.0:0.8244:0.1756	.	161;161	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	161	ENSP00000320116:L161M;ENSP00000330075:L161M	ENSP00000320116:L161M	L	-	1	2	C17orf101	77957590	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.468000	0.45102	2.313000	0.78055	0.655000	0.94253	CTG		0.567	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		14	28	1	0	2.32078e-09	1	2.46314e-09	14	28				
WDR7	23335	broad.mit.edu	37	18	54398626	54398626	+	Missense_Mutation	SNP	G	G	A	rs147676543		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:54398626G>A	ENST00000254442.3	+	14	1998	c.1787G>A	c.(1786-1788)cGt>cAt	p.R596H	WDR7_ENST00000357574.3_Missense_Mutation_p.R596H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	596					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCATTGGATCGTTGTGTGATG	0.343																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1786-1788)cGt>cAt		WD repeat domain 7		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	87.0	91.0		1787,1787	5.3	1.0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense,missense	WDR7	NM_015285.2,NM_052834.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	596/1491,596/1458	54398626	1,13005	2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398626G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1787G>A	18.37:g.54398626G>A	ENSP00000254442:p.Arg596His					WDR7_ENST00000357574.3_Missense_Mutation_p.R596H|WDR7_ENST00000589935.1_Intron	p.R596H	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	1998	+			596					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1787G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318584	0.81469	2.27E-4	0.0	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.72051	-0.62;-0.62	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052773	0.85682	D	0.000000	T	0.77579	0.4151	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	T	0.77935	-0.2401	10	0.45353	T	0.12	.	18.5514	0.91066	0.0:0.0:1.0:0.0	.	596;596	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	596	ENSP00000254442:R596H;ENSP00000350187:R596H	ENSP00000254442:R596H	R	+	2	0	WDR7	52549624	1.000000	0.71417	0.977000	0.42913	0.489000	0.33432	9.788000	0.99064	2.479000	0.83701	0.563000	0.77884	CGT		0.343	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			11	32	0	0	0	1	0	11	32				
MYOC	4653	broad.mit.edu	37	1	171605301	171605301	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171605301C>T	ENST00000037502.6	-	3	1350	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	427	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		A -> T (in GLC1A). {ECO:0000269|PubMed:12189160}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGGCATTGGCGACTGACTGC	0.512																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	GRCh37	CM021646	MYOC	M		c.(1279-1281)Gcc>Acc		myocilin, trabecular meshwork inducible glucocorticoid response							291.0	248.0	262.0					1																	171605301		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605301C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1279G>A	1.37:g.171605301C>T	ENSP00000037502:p.Ala427Thr						p.A427T	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1338	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		427		A -> T (in GLC1A).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.1279G>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907578	0.72868	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.90504	-2.68	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93980	0.7257	10	0.87932	D	0	.	17.3777	0.87397	0.0:1.0:0.0:0.0	.	369;427	B4DV44;Q99972	.;MYOC_HUMAN	T	427;380;360	ENSP00000037502:A427T	ENSP00000037502:A427T	A	-	1	0	MYOC	169871924	1.000000	0.71417	0.948000	0.38648	0.186000	0.23388	7.734000	0.84928	2.508000	0.84585	0.555000	0.69702	GCC		0.512	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		48	66	0	0	0	1	0	48	66				
NEBL	10529	broad.mit.edu	37	10	21120417	21120417	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21120417G>A	ENST00000377122.4	-	15	1941	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	515					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCCATCTCGGATGCTTTCT	0.428																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1543-1545)tcC>tcT		nebulette							145.0	136.0	139.0					10																	21120417		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120417G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1545C>T	10.37:g.21120417G>A						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.S515S	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			15	1941	-			515					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.1545C>T	CCDS7134.1																																																																																				0.428	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		11	31	0	0	0	1	0	11	31				
UCK2	7371	broad.mit.edu	37	1	165865434	165865434	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:165865434G>A	ENST00000367879.4	+	4	667	c.364G>A	c.(364-366)Gag>Aag	p.E122K	UCK2_ENST00000470820.1_5'UTR|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000372212.4_Intron|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000462329.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	122					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGGAAGGAGGAGACAGTTAC	0.547																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(364-366)Gag>Aag		uridine-cytidine kinase 2							200.0	186.0	191.0					1																	165865434		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165865434G>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.364G>A	1.37:g.165865434G>A	ENSP00000356853:p.Glu122Lys					RP11-525G13.2_ENST00000455257.1_RNA|UCK2_ENST00000372212.4_Intron	p.E122K	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN			4	667	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		122					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.364G>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071109	0.76301	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.29	5.29	0.74685	Phosphoribulokinase/uridine kinase (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.59967	1.855	0.58432	D	0.999995	B	0.21225	0.053	B	0.20184	0.028	T	0.50709	-0.8796	8	0.41790	T	0.15	-44.9494	16.4441	0.83910	0.0:0.0:1.0:0.0	.	122	Q9BZX2	UCK2_HUMAN	K	122	.	ENSP00000356853:E122K	E	+	1	0	UCK2	164132058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.615000	0.83006	2.475000	0.83589	0.655000	0.94253	GAG		0.547	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		10	166	0	0	0	1	0	10	166				
CDCA3	83461	broad.mit.edu	37	12	6958354	6958354	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6958354C>T	ENST00000538862.2	-	6	1561	c.660G>A	c.(658-660)cgG>cgA	p.R220R	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Silent_p.R195R|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Silent_p.R220R			Q99618	CDCA3_HUMAN	cell division cycle associated 3	220					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGGGTGAAGGCCGCTTACCCT	0.507																																						ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(658-660)cgG>cgA		cell division cycle associated 3							81.0	71.0	74.0					12																	6958354		2203	4300	6503	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958354C>T	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.660G>A	12.37:g.6958354C>T						CDCA3_ENST00000535406.1_Silent_p.R220R|CDCA3_ENST00000229265.6_Silent_p.R195R|CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000422785.3_Intron	p.R220R			Q99618	CDCA3_HUMAN			6	1561	-			220					A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.660G>A	CCDS8565.1																																																																																				0.507	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		8	19	0	0	0	1	0	8	19				
SLC4A1	6521	broad.mit.edu	37	17	42335881	42335881	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42335881C>T	ENST00000262418.6	-	10	1142	c.987G>A	c.(985-987)gaG>gaA	p.E329E	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	329	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCAGTGCCTGCTCGGAGGGGG	0.622																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(985-987)gaG>gaA		solute carrier family 4 (anion exchanger), member 1							65.0	66.0	65.0					17																	42335881		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335881C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.987G>A	17.37:g.42335881C>T						AC003043.1_ENST00000597382.1_Intron	p.E329E	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1142	-		Breast(137;0.014)|Prostate(33;0.0181)	329					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.987G>A	CCDS11481.1																																																																																				0.622	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		14	30	0	0	0	1	0	14	30				
MYCBP2	23077	broad.mit.edu	37	13	77629784	77629784	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77629784G>A	ENST00000544440.2	-	80	13459	c.13442C>T	c.(13441-13443)gCt>gTt	p.A4481V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4481V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A4519V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGTTGTGATAGCTTCACTCTT	0.373																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(13555-13557)gCt>gTt		MYC binding protein 2, E3 ubiquitin protein ligase							135.0	102.0	113.0					13																	77629784		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77629784G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13442C>T	13.37:g.77629784G>A	ENSP00000444596:p.Ala4481Val					MYCBP2_ENST00000544440.2_Missense_Mutation_p.A4481V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4481V	p.A4519V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	80	13822	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4481						Missense_Mutation	SNP	ENST00000544440.2	37	c.13556C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.670273	0.88348	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.46;1.46;1.46	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.43152	1.355	0.80722	D	1	B	0.18013	0.025	B	0.19666	0.026	T	0.04029	-1.0983	10	0.33940	T	0.23	.	18.7211	0.91694	0.0:0.0:1.0:0.0	.	4481	O75592	MYCB2_HUMAN	V	4481;4519;4481	ENSP00000349892:A4481V;ENSP00000384288:A4519V;ENSP00000444596:A4481V	ENSP00000349892:A4481V	A	-	2	0	MYCBP2	76527785	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.255000	0.95524	2.637000	0.89404	0.655000	0.94253	GCT		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		24	14	0	0	0	1	0	24	14				
ACACA	31	broad.mit.edu	37	17	35632932	35632932	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35632932G>A	ENST00000394406.2	-	8	892	c.702C>T	c.(700-702)agC>agT	p.S234S	ACACA_ENST00000360679.3_Silent_p.S176S|ACACA_ENST00000335166.5_Silent_p.S156S|ACACA_ENST00000353139.5_Silent_p.S271S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	234	Biotin carboxylation.			S -> N (in Ref. 1; AAC50139). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATGGCCTGGCTTGGAGGAC	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(811-813)agC>agT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						123.0	124.0	124.0					17																	35632932		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35632932G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.702C>T	17.37:g.35632932G>A						ACACA_ENST00000394406.2_Silent_p.S234S|ACACA_ENST00000360679.3_Silent_p.S176S|ACACA_ENST00000335166.5_Silent_p.S156S	p.S271S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			8	1294	-		Breast(25;0.00157)|Ovarian(249;0.15)	234			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.813C>T	CCDS11317.1																																																																																				0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		23	38	0	0	0	1	0	23	38				
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725847	130725847	+	RNA	SNP	C	C	T	rs151288976	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130725847C>T	ENST00000412425.1	-	0	771					NR_036537.1																						TTGGTTTTGGCGCTTCTGTTG	0.478													.|||	9	0.00179712	0.0	0.0	5008	,	,		16963	0.0089		0.0	False		,,,				2504	0.0					ENST00000412425.1																			0																																																			0							g.chr2:130725847C>T																													2.37:g.130725847C>T								NR_036537.1						0	771	-									RNA	SNP	ENST00000412425.1	37																																																																																						0.478	AC079776.7-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331383.1			14	15	0	0	0	1	0	14	15				
DEPDC1	55635	broad.mit.edu	37	1	68954165	68954165	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:68954165G>A	ENST00000456315.2	-	5	727	c.613C>T	c.(613-615)Cca>Tca	p.P205S	DEPDC1_ENST00000370966.5_Missense_Mutation_p.P205S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	205					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTAGGGATGGCACACCTAAA	0.303																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(613-615)Cca>Tca		DEP domain containing 1							108.0	99.0	102.0					1																	68954165		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954165G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.613C>T	1.37:g.68954165G>A	ENSP00000412292:p.Pro205Ser					DEPDC1_ENST00000370966.5_Missense_Mutation_p.P205S	p.P205S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	5	727	-			205					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.613C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123885	0.20959	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	T;T	0.12879	2.83;2.64	5.43	-2.47	0.06442	.	0.608776	0.18427	N	0.141546	T	0.01765	0.0056	N	0.11064	0.09	0.21445	N	0.999685	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.45527	-0.9255	9	.	.	.	-0.1192	12.3646	0.55222	0.4867:0.0:0.5133:0.0	.	205;205	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	S	205;205;150	ENSP00000412292:P205S;ENSP00000360005:P205S	.	P	-	1	0	DEPDC1	68726753	0.002000	0.14202	0.807000	0.32361	0.960000	0.62799	-0.153000	0.10144	-0.249000	0.09569	0.650000	0.86243	CCA		0.303	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		16	27	0	0	0	1	0	16	27				
TCAIM	285343	broad.mit.edu	37	3	44448965	44448965	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44448965G>A	ENST00000342649.4	+	11	1709	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	TCAIM_ENST00000417237.1_Missense_Mutation_p.A428T	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	428						mitochondrion (GO:0005739)											ATTGATACAGGCATCAACAAA	0.284																																						ENST00000342649.4																			0											c.(1282-1284)Gca>Aca		T cell activation inhibitor, mitochondrial							43.0	45.0	45.0					3																	44448965		2198	4300	6498	SO:0001583	missense	285343							g.chr3:44448965G>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1282G>A	3.37:g.44448965G>A	ENSP00000341539:p.Ala428Thr					TCAIM_ENST00000417237.1_Missense_Mutation_p.A428T	p.A428T	NM_173826.3	NP_776187.2					11	1709	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1282G>A	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742791	0.30865	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.42900	0.96;0.96	6.07	4.27	0.50696	.	0.300970	0.35805	N	0.002977	T	0.20740	0.0499	N	0.08118	0	0.09310	N	0.999992	B	0.06786	0.001	B	0.10450	0.005	T	0.16070	-1.0415	10	0.13470	T	0.59	.	10.3766	0.44085	0.2111:0.0:0.7889:0.0	.	428	Q8N3R3	CC023_HUMAN	T	428	ENSP00000402581:A428T;ENSP00000341539:A428T	ENSP00000341539:A428T	A	+	1	0	C3orf23	44423969	0.991000	0.36638	0.991000	0.47740	0.998000	0.95712	2.363000	0.44178	1.570000	0.49709	0.655000	0.94253	GCA		0.284	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		26	35	0	0	0	1	0	26	35				
DOCK8	81704	broad.mit.edu	37	9	420486	420486	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:420486A>G	ENST00000453981.1	+	31	4038	c.3926A>G	c.(3925-3927)cAg>cGg	p.Q1309R	DOCK8_ENST00000432829.2_Missense_Mutation_p.Q1241R|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1209R|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q776R			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1309					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGCTGATCAGAGCCTCATT	0.448																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3721-3723)cAg>cGg		dedicator of cytokinesis 8							182.0	153.0	163.0					9																	420486		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:420486A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3926A>G	9.37:g.420486A>G	ENSP00000408464:p.Gln1309Arg					DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1309R|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1209R|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q776R	p.Q1241R	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	31	4038	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1309					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3722A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	7.223	0.597864	0.13875	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.67	5.67	0.87782	.	0.111098	0.64402	D	0.000005	T	0.12092	0.0294	N	0.11927	0.2	0.53688	D	0.999971	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.09997	-1.0649	10	0.07644	T	0.81	.	15.9132	0.79488	1.0:0.0:0.0:0.0	.	1209;776;1309	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	R	1309;1277;1241;1209;776	ENSP00000408464:Q1309R;ENSP00000394888:Q1241R;ENSP00000419438:Q1209R;ENSP00000371766:Q776R	ENSP00000287364:Q1277R	Q	+	2	0	DOCK8	410486	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.143000	0.77348	2.148000	0.66965	0.533000	0.62120	CAG		0.448	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		39	45	0	0	0	1	0	39	45				
ZNF484	83744	broad.mit.edu	37	9	95618579	95618579	+	Missense_Mutation	SNP	C	C	T	rs143365202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95618579C>T	ENST00000375495.3	-	3	185	c.37G>A	c.(37-39)Gta>Ata	p.V13I	ZNF484_ENST00000395506.3_Missense_Mutation_p.V15I|ZNF484_ENST00000395505.2_5'UTR|ZNF484_ENST00000332591.6_5'UTR|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTACAGTTACGTCCTTGAAT	0.308																																						ENST00000375495.3																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(37-39)Gta>Ata		zinc finger protein 484		C	,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	127.0	121.0	123.0		,37	0.6	0.4	9	dbSNP_134	123	0,8600		0,0,4300	no	utr-5,missense	ZNF484	NM_001007101.1,NM_031486.1	,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,benign	,13/853	95618579	2,13004	2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95618579C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.37G>A	9.37:g.95618579C>T	ENSP00000364645:p.Val13Ile					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_5'UTR|ZNF484_ENST00000332591.6_5'UTR|ZNF484_ENST00000395506.3_Missense_Mutation_p.V15I	p.V13I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN			3	185	-			13			KRAB.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.37G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134101	0.09032	4.54E-4	0.0	ENSG00000127081	ENST00000395506;ENST00000375495	T;T	0.08720	3.06;3.06	2.51	0.65	0.17812	Krueppel-associated box (4);	.	.	.	.	T	0.09730	0.0239	M	0.79258	2.445	0.80722	D	1	B;B	0.33841	0.428;0.428	B;B	0.26310	0.068;0.068	T	0.08006	-1.0743	9	0.62326	D	0.03	.	6.7149	0.23298	0.0:0.7412:0.0:0.2588	.	15;13	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	15;13	ENSP00000378882:V15I;ENSP00000364645:V13I	ENSP00000364645:V13I	V	-	1	0	ZNF484	94658400	0.386000	0.25180	0.427000	0.26684	0.080000	0.17528	0.702000	0.25631	0.173000	0.19788	-0.213000	0.12676	GTA		0.308	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		30	44	0	0	0	1	0	30	44				
NDN	4692	broad.mit.edu	37	15	23931681	23931681	+	Silent	SNP	G	G	A	rs149718513		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:23931681G>A	ENST00000331837.4	-	1	769	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F228F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCACGTCCCCGAAGGTGGAGT	0.602									Prader-Willi syndrome																													ENST00000331837.4																			1	Substitution - coding silent(1)	p.F228F(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(682-684)ttC>ttT		necdin, melanoma antigen (MAGE) family member		G		1,4401		0,1,2200	35.0	34.0	35.0		684	0.8	0.6	15	dbSNP_134	35	0,8592		0,0,4296	no	coding-synonymous	NDN	NM_002487.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		228/322	23931681	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931681G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.684C>T	15.37:g.23931681G>A							p.F228F	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	769	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	228			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.684C>T	CCDS10014.1																																																																																				0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		14	25	0	0	0	1	0	14	25				
SCN1B	6324	broad.mit.edu	37	19	35530127	35530127	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35530127C>T	ENST00000262631.5	+	4	692	c.555C>T	c.(553-555)atC>atT	p.I185I	HPN_ENST00000597419.1_5'Flank|CTD-2527I21.9_ENST00000601692.1_RNA|HPN_ENST00000262626.2_5'Flank|SCN1B_ENST00000595652.1_Silent_p.I114I|HPN_ENST00000392226.1_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	185					axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAAGAAGATCGCTGCCGCCA	0.552																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(553-555)atC>atT		sodium channel, voltage-gated, type I, beta subunit							130.0	114.0	119.0					19																	35530127		2203	4300	6503	SO:0001819	synonymous_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35530127C>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.555C>T	19.37:g.35530127C>T						SCN1B_ENST00000595652.1_Silent_p.I114I	p.I185I	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	692	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		185					Q5TZZ4|Q6TN97	Silent	SNP	ENST00000262631.5	37	c.555C>T	CCDS12441.1																																																																																				0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			34	41	0	0	0	1	0	34	41				
STAB1	23166	broad.mit.edu	37	3	52556356	52556356	+	Missense_Mutation	SNP	G	G	A	rs375503669		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52556356G>A	ENST00000321725.6	+	60	6552	c.6476G>A	c.(6475-6477)cGc>cAc	p.R2159H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2159	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AACACACGGCGCTGTGAGTGC	0.657																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6475-6477)cGc>cAc		stabilin 1		G	HIS/ARG	0,4406		0,0,2203	61.0	65.0	64.0		6476	4.7	1.0	3		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB1	NM_015136.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2159/2571	52556356	1,13005	2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556356G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6476G>A	3.37:g.52556356G>A	ENSP00000312946:p.Arg2159His						p.R2159H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	60	6552	+			2159			EGF-like 16.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6476G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208841	0.58343	0.0	1.16E-4	ENSG00000010327	ENST00000321725	T	0.42900	0.96	5.58	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.319613	0.34245	N	0.004134	T	0.33876	0.0878	L	0.45051	1.395	0.43211	D	0.995079	B;B	0.32160	0.358;0.358	B;B	0.25884	0.043;0.064	T	0.08680	-1.0710	10	0.31617	T	0.26	.	14.3712	0.66840	0.0712:0.0:0.9288:0.0	.	46;2159	B3KSK0;Q9NY15	.;STAB1_HUMAN	H	2159	ENSP00000312946:R2159H	ENSP00000312946:R2159H	R	+	2	0	STAB1	52531396	0.549000	0.26481	1.000000	0.80357	0.949000	0.60115	1.072000	0.30678	1.350000	0.45770	0.549000	0.68633	CGC		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	46	0	0	0	1	0	4	46				
ASTN2	23245	broad.mit.edu	37	9	119188348	119188348	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:119188348G>A	ENST00000313400.4	-	23	3902	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	ASTN2_ENST00000361209.2_Missense_Mutation_p.R1217W|ASTN2_ENST00000361477.3_Missense_Mutation_p.R320W|ASTN2_ENST00000373996.3_Missense_Mutation_p.R1264W|ASTN2_ENST00000288520.5_Missense_Mutation_p.R369W|ASTN2_ENST00000341734.4_Missense_Mutation_p.R320W			O75129	ASTN2_HUMAN	astrotactin 2	1268					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCAGTCGCCGTAGAATCAGG	0.522																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3802-3804)Cgg>Tgg		astrotactin 2							36.0	35.0	35.0					9																	119188348		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119188348G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3802C>T	9.37:g.119188348G>A	ENSP00000314038:p.Arg1268Trp					ASTN2_ENST00000373996.3_Missense_Mutation_p.R1264W|ASTN2_ENST00000341734.4_Missense_Mutation_p.R320W|ASTN2_ENST00000361477.3_Missense_Mutation_p.R320W|ASTN2_ENST00000361209.2_Missense_Mutation_p.R1217W|ASTN2_ENST00000288520.5_Missense_Mutation_p.R369W	p.R1268W			O75129	ASTN2_HUMAN			23	3902	-			1268					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3802C>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.766322	0.49574	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15603	2.83;2.83;2.41;2.42;2.65;2.84;2.42	5.86	4.9	0.64082	.	0.184962	0.47455	D	0.000226	T	0.24470	0.0593	N	0.14661	0.345	0.42641	D	0.993413	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999;0.999	P;P;D;P;D;P;D	0.75020	0.802;0.877;0.941;0.874;0.985;0.877;0.915	T	0.04946	-1.0916	10	0.72032	D	0.01	-27.3415	13.7935	0.63157	0.0:0.0:0.7157:0.2843	.	320;320;1217;1268;1264;320;369	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	W	1268;1264;369;320;991;1217;320	ENSP00000314038:R1268W;ENSP00000363108:R1264W;ENSP00000288520:R369W;ENSP00000339925:R320W;ENSP00000363098:R991W;ENSP00000354504:R1217W;ENSP00000355116:R320W	ENSP00000288520:R369W	R	-	1	2	ASTN2	118228169	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.102000	0.41796	2.761000	0.94854	0.655000	0.94253	CGG		0.522	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	12	0	0	0	1	0	8	12				
ANKRD12	23253	broad.mit.edu	37	18	9281097	9281097	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9281097C>T	ENST00000262126.4	+	13	6402	c.6162C>T	c.(6160-6162)aaC>aaT	p.N2054N	ANKRD12_ENST00000383440.2_Silent_p.N2031N|ANKRD12_ENST00000400020.3_Silent_p.N2031N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2054						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTGATGTTAACGACGACTTTG	0.403																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(6091-6093)aaC>aaT		ankyrin repeat domain 12							161.0	152.0	155.0					18																	9281097		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9281097C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6162C>T	18.37:g.9281097C>T						ANKRD12_ENST00000400020.3_Silent_p.N2031N|ANKRD12_ENST00000262126.3_Silent_p.N2054N	p.N2031N	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			12	6350	+			2054					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.6093C>T	CCDS11843.1																																																																																				0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		36	57	0	0	0	1	0	36	57				
AGO1	26523	broad.mit.edu	37	1	36367818	36367818	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36367818C>T	ENST00000373204.4	+	11	1490	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	AGO1_ENST00000373206.1_Missense_Mutation_p.A351V	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	426					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGGGCCATTGCCACACCCAAT	0.572																																						ENST00000373204.4																			0											c.(1276-1278)gCc>gTc		argonaute RISC catalytic component 1							104.0	117.0	113.0					1																	36367818		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367818C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1277C>T	1.37:g.36367818C>T	ENSP00000362300:p.Ala426Val					AGO1_ENST00000373206.1_Missense_Mutation_p.A351V	p.A426V	NM_012199.2	NP_036331.1					11	1490	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1277C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927662	0.73327	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.06687	3.27;3.27	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	M	0.62209	1.925	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.13953	-1.0490	10	0.17832	T	0.49	-25.121	19.7706	0.96363	0.0:1.0:0.0:0.0	.	426	Q9UL18	AGO1_HUMAN	V	351;426	ENSP00000362302:A351V;ENSP00000362300:A426V	ENSP00000362300:A426V	A	+	2	0	EIF2C1	36140405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	GCC		0.572	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			41	69	0	0	0	1	0	41	69				
SDS	10993	broad.mit.edu	37	12	113830893	113830893	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113830893G>A	ENST00000257549.4	-	8	962	c.840C>T	c.(838-840)caC>caT	p.H280H		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	280					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	TCTGGATCACGTGGCTATAGA	0.647																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(838-840)caC>caT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						85.0	85.0	85.0					12																	113830893		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113830893G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.840C>T	12.37:g.113830893G>A							p.H280H	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			8	962	-			280					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.840C>T	CCDS9169.1																																																																																				0.647	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		34	41	0	0	0	1	0	34	41				
TMEM8A	58986	broad.mit.edu	37	16	422141	422141	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:422141G>A	ENST00000431232.2	-	13	2322	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.T528I|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	721					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GATGCTGTGGGTGTAGTAGTA	0.642																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(2161-2163)aCc>aTc		transmembrane protein 8A							75.0	79.0	78.0					16																	422141		2200	4300	6500	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:422141G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2162C>T	16.37:g.422141G>A	ENSP00000401338:p.Thr721Ile					TMEM8A_ENST00000250930.3_Missense_Mutation_p.T528I	p.T721I	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			13	2322	-			721					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.2162C>T	CCDS10407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.51|12.51	1.960111|1.960111	0.34565|0.34565	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.42131	.|0.98;0.98	4.3|4.3	3.34|3.34	0.38264|0.38264	.|.	.|0.000000	.|0.64402	.|D	.|0.000012	T|T	0.46210|0.46210	0.1381|0.1381	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.43523|0.43523	-0.9386|-0.9386	5|10	.|0.02654	.|T	.|1	-3.0326|-3.0326	11.721|11.721	0.51683|0.51683	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	.|721	.|Q9HCN3	.|TMM8A_HUMAN	S|I	189|721;528;209	.|ENSP00000401338:T721I;ENSP00000250930:T528I	.|ENSP00000250930:T528I	P|T	-|-	1|2	0|0	TMEM8A|TMEM8A	362142|362142	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.855000|0.855000	0.48748|0.48748	5.291000|5.291000	0.65667|0.65667	1.039000|1.039000	0.40074|0.40074	0.455000|0.455000	0.32223|0.32223	CCC|ACC		0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		15	19	0	0	0	1	0	15	19				
SAMD7	344658	broad.mit.edu	37	3	169656274	169656274	+	Nonsense_Mutation	SNP	C	C	T	rs200235684		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169656274C>T	ENST00000428432.2	+	9	1710	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R441*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	441										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGAATTGAGCGAGGTAGTAT	0.413																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1321-1323)Cga>Tga		sterile alpha motif domain containing 7							48.0	46.0	47.0					3																	169656274		2203	4300	6503	SO:0001587	stop_gained	344658							g.chr3:169656274C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1321C>T	3.37:g.169656274C>T	ENSP00000391299:p.Arg441*					SAMD7_ENST00000335556.3_Nonsense_Mutation_p.R441*	p.R441*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		9	1710	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		441						Nonsense_Mutation	SNP	ENST00000428432.2	37	c.1321C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730397	0.89390	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	.	.	.	4.03	0.971	0.19698	.	1.222600	0.06130	N	0.670482	.	.	.	.	.	.	0.23966	N	0.996326	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2745	4.3153	0.10990	0.1591:0.598:0.1541:0.0888	.	.	.	.	X	441	.	ENSP00000334668:R441X	R	+	1	2	SAMD7	171138968	0.600000	0.26899	0.010000	0.14722	0.060000	0.15804	0.954000	0.29175	0.058000	0.16222	0.491000	0.48974	CGA		0.413	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		15	24	0	0	0	1	0	15	24				
JMJD4	65094	broad.mit.edu	37	1	227920225	227920225	+	Silent	SNP	G	G	A	rs139531103		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227920225G>A	ENST00000366758.3	-	6	1259	c.1260C>T	c.(1258-1260)cgC>cgT	p.R420R	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000438896.2_Silent_p.R404R|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	420										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCTCTGTGATGCGCCCAACAT	0.612																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1258-1260)cgC>cgT		jumonji domain containing 4		G	,	1,4405	2.1+/-5.4	0,1,2202	106.0	84.0	91.0		1212,1260	-1.8	0.2	1	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JMJD4	NM_001161465.1,NM_023007.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	404/448,420/464	227920225	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65094							g.chr1:227920225G>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1260C>T	1.37:g.227920225G>A						SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Silent_p.R404R|SNAP47_ENST00000366760.1_Intron	p.R420R	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1259	-		Prostate(94;0.0885)	420					Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	c.1260C>T	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	G	1.180	-0.638499	0.03557	2.27E-4	0.0	ENSG00000081692	ENST00000438896	.	.	.	5.02	-1.77	0.07982	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.38480	D	0.947697	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	-44.1741	5.6154	0.17428	0.091:0.1242:0.6479:0.1368	.	.	.	.	V	397	.	.	A	-	2	0	JMJD4	225986848	0.816000	0.29132	0.226000	0.23910	0.080000	0.17528	0.096000	0.15147	-0.057000	0.13199	0.655000	0.94253	GCA		0.612	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		16	18	0	0	0	1	0	16	18				
ZBTB43	23099	broad.mit.edu	37	9	129595902	129595902	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129595902C>T	ENST00000373464.4	+	3	1378	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	ZBTB43_ENST00000373457.1_Silent_p.L372L|ZBTB43_ENST00000449886.1_Silent_p.L372L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CACTGACAAGCTGTATCCTTG	0.502																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1114-1116)Ctg>Ttg		zinc finger and BTB domain containing 43							73.0	72.0	73.0					9																	129595902		2203	4300	6503	SO:0001819	synonymous_variant	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595902C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1114C>T	9.37:g.129595902C>T						ZBTB43_ENST00000373457.1_Silent_p.L372L|ZBTB43_ENST00000449886.1_Silent_p.L372L	p.L372L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1378	+			372					Q5JU96	Silent	SNP	ENST00000373464.4	37	c.1114C>T	CCDS6867.1																																																																																				0.502	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		19	28	0	0	0	1	0	19	28				
VIL1	7429	broad.mit.edu	37	2	219292746	219292746	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219292746G>A	ENST00000248444.5	+	5	494	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	VIL1_ENST00000440053.1_Missense_Mutation_p.V136I|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	136	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTATGACGTCCAGAGGCT	0.622																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(406-408)Gtc>Atc		villin 1							135.0	131.0	132.0					2																	219292746		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292746G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.406G>A	2.37:g.219292746G>A	ENSP00000248444:p.Val136Ile					VIL1_ENST00000440053.1_Missense_Mutation_p.V136I|VIL1_ENST00000392114.2_Intron	p.V136I	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	494	+		Renal(207;0.0474)	136			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.406G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023424	0.07634	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.29917	1.55;2.31;1.55	5.05	0.864	0.19068	.	0.350346	0.25938	N	0.027328	T	0.15998	0.0385	N	0.16903	0.455	0.36638	D	0.876687	B;B	0.18310	0.027;0.014	B;B	0.12156	0.007;0.003	T	0.15723	-1.0427	10	0.19590	T	0.45	-24.2957	10.2989	0.43639	0.3287:0.0:0.6713:0.0	.	136;136	Q96AC8;P09327	.;VILI_HUMAN	I	136;132;136	ENSP00000248444:V136I;ENSP00000412657:V132I;ENSP00000409270:V136I	ENSP00000248444:V136I	V	+	1	0	VIL1	219000990	0.043000	0.20138	0.334000	0.25495	0.145000	0.21501	0.272000	0.18644	0.298000	0.22638	0.462000	0.41574	GTC		0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		41	71	0	0	0	1	0	41	71				
CHD1	1105	broad.mit.edu	37	5	98192375	98192375	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98192375A>G	ENST00000284049.3	-	35	4991	c.4842T>C	c.(4840-4842)gaT>gaC	p.D1614D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1614					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGACCTGTGATCTCTACTCC	0.353																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4840-4842)gaT>gaC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						98.0	93.0	95.0					5																	98192375		2203	4300	6503	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192375A>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4842T>C	5.37:g.98192375A>G							p.D1614D	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	4991	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1614					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.4842T>C	CCDS34204.1																																																																																				0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		9	17	0	0	0	1	0	9	17				
NCOA2	10499	broad.mit.edu	37	8	71069250	71069250	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71069250C>T	ENST00000452400.2	-	11	1531	c.1350G>A	c.(1348-1350)gtG>gtA	p.V450V	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	450					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCATGCCTGACACATGGTTCA	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1348-1350)gtG>gtA		nuclear receptor coactivator 2							144.0	140.0	141.0					8																	71069250		2001	4153	6154	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069250C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1350G>A	8.37:g.71069250C>T						NCOA2_ENST00000524223.1_Intron	p.V450V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1531	-	Breast(64;0.201)		450					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1350G>A	CCDS47872.1																																																																																				0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			16	26	0	0	0	1	0	16	26				
PDE4DIP	9659	broad.mit.edu	37	1	144857655	144857655	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144857655G>T	ENST00000369354.3	-	39	6588	c.6399C>A	c.(6397-6399)tcC>tcA	p.S2133S	PDE4DIP_ENST00000313382.9_Silent_p.S2027S|PDE4DIP_ENST00000530740.1_Silent_p.S2218S|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.S2133S|PDE4DIP_ENST00000369359.4_Silent_p.S2269S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2133					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGGAGTAGAGGAAGCAGAGC	0.493			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6805-6807)tcC>tcA		phosphodiesterase 4D interacting protein							233.0	255.0	248.0					1																	144857655		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857655G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6399C>A	1.37:g.144857655G>T						PDE4DIP_ENST00000530740.1_Silent_p.S2218S|PDE4DIP_ENST00000369354.3_Silent_p.S2133S|PDE4DIP_ENST00000313382.9_Silent_p.S2027S|PDE4DIP_ENST00000369356.4_Silent_p.S2133S|PDE4DIP_ENST00000524974.1_5'UTR	p.S2269S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6845	-			2133					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6807C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	8.623	0.891926	0.17613	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.75	-1.9	0.07665	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	4	.	.	.	.	3.413	0.07365	0.2976:0.0:0.2806:0.4218	.	.	.	.	H	210	.	.	P	-	2	0	PDE4DIP	143569012	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.307000	0.08167	-0.203000	0.10251	-1.274000	0.01402	CCT		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		18	122	1	0	3.32936e-07	1	3.48341e-07	18	122				
COPG2	26958	broad.mit.edu	37	7	130297071	130297071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:130297071C>T	ENST00000445977.2	-	8	620	c.531G>A	c.(529-531)tgG>tgA	p.W177*				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	177					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)			large_intestine(1)	1	Melanoma(18;0.0435)					CTTCATTGATCCAGCGCTTAA	0.353																																						ENST00000445977.2																			0				large_intestine(1)	1						c.(529-531)tgG>tgA		coatomer protein complex, subunit gamma 2							151.0	131.0	137.0					7																	130297071		1896	4124	6020	SO:0001587	stop_gained	26958				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity	g.chr7:130297071C>T	AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.531G>A	7.37:g.130297071C>T	ENSP00000393912:p.Trp177*						p.W177*			Q9UBF2	COPG2_HUMAN			8	620	-	Melanoma(18;0.0435)		177					A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Nonsense_Mutation	SNP	ENST00000445977.2	37	c.531G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.064402	0.93898	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1349	0.89616	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000331218:W177X	W	-	3	0	COPG2	129947608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	2.634000	0.89283	0.561000	0.74099	TGG		0.353	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012133		8	30	0	0	0	1	0	8	30				
CENPE	1062	broad.mit.edu	37	4	104030070	104030070	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:104030070G>T	ENST00000265148.3	-	48	7990	c.7901C>A	c.(7900-7902)cCt>cAt	p.P2634H	CENPE_ENST00000380026.3_Missense_Mutation_p.P2513H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2634	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTGGCACAGGATCTTGTAA	0.383																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7900-7902)cCt>cAt		centromere protein E, 312kDa							190.0	187.0	188.0					4																	104030070		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030070G>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7901C>A	4.37:g.104030070G>T	ENSP00000265148:p.Pro2634His					CENPE_ENST00000380026.3_Missense_Mutation_p.P2513H	p.P2634H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7990	-			2634			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7901C>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130922	0.37630	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70869	-0.52;-0.49	4.95	3.21	0.36854	.	.	.	.	.	T	0.73659	0.3615	L	0.51422	1.61	0.09310	N	1	D;D	0.61697	0.99;0.983	P;P	0.56474	0.799;0.635	T	0.62044	-0.6937	9	0.56958	D	0.05	.	8.5929	0.33699	0.1579:0.0:0.8421:0.0	.	2513;2634	Q02224-3;Q02224	.;CENPE_HUMAN	H	2634;2513	ENSP00000265148:P2634H;ENSP00000369365:P2513H	ENSP00000265148:P2634H	P	-	2	0	CENPE	104249519	0.036000	0.19791	0.080000	0.20451	0.583000	0.36354	1.588000	0.36633	0.500000	0.27991	0.655000	0.94253	CCT		0.383	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	60	1	0	6.84511e-11	1	7.33645e-11	35	60				
STK25	10494	broad.mit.edu	37	2	242441080	242441080	+	Missense_Mutation	SNP	C	C	T	rs200593123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242441080C>T	ENST00000316586.4	-	3	423	c.74G>A	c.(73-75)cGc>cAc	p.R25H	STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000401869.1_Missense_Mutation_p.R25H	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGCCAATGCGGTCGAGCTT	0.622																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(73-75)cGc>cAc		serine/threonine kinase 25							152.0	120.0	131.0					2																	242441080		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242441080C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.74G>A	2.37:g.242441080C>T	ENSP00000325748:p.Arg25His					STK25_ENST00000401869.1_Missense_Mutation_p.R25H|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000405585.1_Intron|STK25_ENST00000543554.1_5'UTR	p.R25H	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	423	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	25			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.74G>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570453	0.28003	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000436402;ENST00000426941;ENST00000420551	T;T;T;T;T;T	0.39997	1.81;1.81;1.81;1.05;1.05;1.05	3.78	1.95	0.26073	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067963	0.64402	D	0.000014	T	0.31513	0.0799	L	0.45698	1.435	0.80722	D	1	P;P	0.37573	0.6;0.563	B;B	0.32149	0.141;0.048	T	0.10800	-1.0614	10	0.62326	D	0.03	.	9.9645	0.41717	0.0:0.8268:0.0:0.1732	.	25;25	B4DZ52;O00506	.;STK25_HUMAN	H	25;25;25;25;25;40	ENSP00000325748:R25H;ENSP00000384162:R25H;ENSP00000385687:R25H;ENSP00000412617:R25H;ENSP00000414191:R25H;ENSP00000404552:R40H	ENSP00000325748:R25H	R	-	2	0	STK25	242089753	1.000000	0.71417	0.573000	0.28510	0.003000	0.03518	7.541000	0.82084	0.341000	0.23771	-0.253000	0.11424	CGC		0.622	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		21	37	0	0	0	1	0	21	37				
APC2	10297	broad.mit.edu	37	19	1465595	1465595	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1465595C>T	ENST00000535453.1	+	14	4008	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	APC2_ENST00000238483.4_Silent_p.D491D|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.D765D|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACCTGGACGGCCTGGCCC	0.716																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2293-2295)gaC>gaT		adenomatosis polyposis coli 2							9.0	12.0	11.0					19																	1465595		2125	4244	6369	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465595C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2295C>T	19.37:g.1465595C>T						APC2_ENST00000233607.2_Silent_p.D765D|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.D491D	p.D765D			O95996	APC2_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)	14	4008	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	765					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.2295C>T	CCDS12068.1																																																																																				0.716	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		3	4	0	0	0	1	0	3	4				
WDR6	11180	broad.mit.edu	37	3	49050849	49050849	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49050849G>A	ENST00000608424.1	+	2	1921	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	WDR6_ENST00000395474.3_Missense_Mutation_p.V658I|WDR6_ENST00000448293.1_Missense_Mutation_p.V577I|WDR6_ENST00000415265.2_Missense_Mutation_p.V76I			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	628					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGAGCATGGTTATCCTGGG	0.577																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1972-1974)Gtt>Att		WD repeat domain 6							137.0	107.0	117.0					3																	49050849		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050849G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1882G>A	3.37:g.49050849G>A	ENSP00000477389:p.Val628Ile					WDR6_ENST00000448293.1_Missense_Mutation_p.V577I|WDR6_ENST00000415265.2_Missense_Mutation_p.V76I	p.V658I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2252	+			628					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1972G>A		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302327	0.40694	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.69435	2.9;-0.4;-0.4	5.35	4.45	0.53987	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.207801	0.41396	D	0.000883	T	0.43986	0.1272	L	0.27053	0.805	0.35263	D	0.779747	P;P;P	0.39831	0.558;0.69;0.69	B;B;B	0.36666	0.153;0.23;0.164	T	0.49925	-0.8887	10	0.16896	T	0.51	-31.4233	3.6623	0.08244	0.0973:0.2501:0.5228:0.1298	.	76;628;577	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	I	658;76;577	ENSP00000378857:V658I;ENSP00000412195:V76I;ENSP00000413432:V577I	ENSP00000378857:V658I	V	+	1	0	WDR6	49025853	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	2.482000	0.45224	2.503000	0.84419	0.561000	0.74099	GTT		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			18	18	0	0	0	1	0	18	18				
HDLBP	3069	broad.mit.edu	37	2	242179042	242179042	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242179042C>T	ENST00000391975.1	-	19	2812	c.2585G>A	c.(2584-2586)cGc>cAc	p.R862H	HDLBP_ENST00000391976.2_Missense_Mutation_p.R862H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R862H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R829H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	862	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCTGAATGCGTTTCTTGGC	0.602																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2584-2586)cGc>cAc		high density lipoprotein binding protein							112.0	107.0	109.0					2																	242179042		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179042C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2585G>A	2.37:g.242179042C>T	ENSP00000375836:p.Arg862His					HDLBP_ENST00000391976.2_Missense_Mutation_p.R862H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R862H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R829H	p.R862H	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	19	2812	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	862			KH 10.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2585G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.310315|3.310315	0.60414|0.60414	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.41|5.41	2.55|2.55	0.30701|0.30701	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.108809	.|0.64402	.|D	.|0.000010	T|T	0.44180|0.44180	0.1281|0.1281	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.996;0.998	.|D;D	.|0.70487	.|0.969;0.961	T|T	0.24799|0.24799	-1.0150|-1.0150	5|10	.|0.72032	.|D	.|0.01	-12.6536|-12.6536	8.7612|8.7612	0.34676|0.34676	0.0:0.699:0.0:0.301|0.0:0.699:0.0:0.301	.|.	.|829;862	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|H	264|862;862;862;829	.|ENSP00000375836:R862H;ENSP00000375837:R862H;ENSP00000312042:R862H;ENSP00000399139:R829H	.|ENSP00000312042:R862H	A|R	-|-	1|2	0|0	HDLBP|HDLBP	241827715|241827715	1.000000|1.000000	0.71417|0.71417	0.075000|0.075000	0.20258|0.20258	0.915000|0.915000	0.54546|0.54546	5.969000|5.969000	0.70422|0.70422	0.316000|0.316000	0.23135|0.23135	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.602	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		38	61	0	0	0	1	0	38	61				
NKX2-1	7080	broad.mit.edu	37	14	36988568	36988568	+	5'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36988568G>A	ENST00000518149.1	-	0	600				NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_5'UTR|NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.R29*|NKX2-1_ENST00000522719.2_5'UTR			P43699	NKX21_HUMAN	NK2 homeobox 1						anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GACATGATTCGGCGGCGGCTG	0.532			A		NSCLC																																	ENST00000354822.5				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(85-87)Cga>Tga		NK2 homeobox 1							14.0	17.0	16.0					14																	36988568		2063	4049	6112	SO:0001623	5_prime_UTR_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988568G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.-6C>T	14.37:g.36988568G>A						NKX2-1_ENST00000522719.2_5'UTR|NKX2-1_ENST00000518149.1_5'UTR|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_5'UTR	p.R29*	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	183	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		249					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Nonsense_Mutation	SNP	ENST00000518149.1	37	c.85C>T	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438563	0.96168	.	.	ENSG00000136352	ENST00000354822	.	.	.	5.12	5.12	0.69794	.	0.000000	0.39475	U	0.001345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4943	0.61416	0.0:0.0:0.8435:0.1565	.	.	.	.	X	29	.	ENSP00000346879:R29X	R	-	1	2	NKX2-1	36058319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.375000	0.66173	2.381000	0.81170	0.462000	0.41574	CGA		0.532	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		4	11	0	0	0	1	0	4	11				
CRTAC1	55118	broad.mit.edu	37	10	99640010	99640010	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99640010G>A	ENST00000370597.3	-	14	2170	c.1815C>T	c.(1813-1815)tgC>tgT	p.C605C	CRTAC1_ENST00000370591.2_Silent_p.C605C|CRTAC1_ENST00000468549.1_5'Flank|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A591V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	605	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C605C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTCACCCACGCAGGCTGTGC	0.602																																						ENST00000298819.4																			1	Substitution - coding silent(1)	p.C605C(1)	kidney(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1771-1773)gCg>gTg		cartilage acidic protein 1							80.0	74.0	76.0					10																	99640010		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99640010G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1815C>T	10.37:g.99640010G>A						CRTAC1_ENST00000370597.3_Silent_p.C605C|CRTAC1_ENST00000370591.2_Silent_p.C605C	p.A591V			Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2127	-		Colorectal(252;0.24)	0			EGF-like.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1772C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978680	0.18812	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.56	-2.11	0.07187	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	8	0.87932	D	0	-11.2329	12.8464	0.57831	0.4649:0.0:0.5351:0.0	.	487	Q5T4F6	.	V	487;591	ENSP00000408445:A487V;ENSP00000298819:A591V	ENSP00000298819:A591V	A	-	2	0	CRTAC1	99630000	0.992000	0.36948	0.988000	0.46212	0.450000	0.32258	0.426000	0.21363	-0.594000	0.05836	-1.455000	0.01032	GCG		0.602	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		31	34	0	0	0	1	0	31	34				
S100PBP	64766	broad.mit.edu	37	1	33292352	33292352	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33292352A>G	ENST00000373475.5	+	3	906	c.652A>G	c.(652-654)Aac>Gac	p.N218D	S100PBP_ENST00000398243.3_Missense_Mutation_p.N218D|S100PBP_ENST00000373476.1_Missense_Mutation_p.N218D|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTCAAACAATAACTTTCAACA	0.438																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(652-654)Aac>Gac		S100P binding protein							69.0	75.0	73.0					1																	33292352		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292352A>G	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.652A>G	1.37:g.33292352A>G	ENSP00000362574:p.Asn218Asp					S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.N218D|S100PBP_ENST00000373476.1_Missense_Mutation_p.N218D	p.N218D	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	906	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	218						Missense_Mutation	SNP	ENST00000373475.5	37	c.652A>G	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	A	2.884	-0.231253	0.05983	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.85	2.23	0.28157	.	0.681043	0.14659	N	0.306055	T	0.23492	0.0568	N	0.17082	0.46	0.09310	N	1	B;B	0.17667	0.023;0.005	B;B	0.14578	0.011;0.007	T	0.19582	-1.0301	8	.	.	.	-0.1911	7.9177	0.29827	0.7541:0.0:0.2459:0.0	.	218;218	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	D	218	.	.	N	+	1	0	S100PBP	33064939	0.940000	0.31905	0.019000	0.16419	0.018000	0.09664	1.156000	0.31712	0.560000	0.29169	0.533000	0.62120	AAC		0.438	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		25	35	0	0	0	1	0	25	35				
TTC21B	79809	broad.mit.edu	37	2	166797631	166797631	+	Missense_Mutation	SNP	C	C	T	rs370956667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166797631C>T	ENST00000243344.7	-	6	753	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	206					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGAAAATTCACGATTATCTGG	0.428																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(616-618)Gtg>Atg		tetratricopeptide repeat domain 21B		C	MET/VAL	0,4406		0,0,2203	101.0	98.0	99.0		616	0.2	0.2	2		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC21B	NM_024753.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	206/1317	166797631	1,13005	2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166797631C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.616G>A	2.37:g.166797631C>T	ENSP00000243344:p.Val206Met					AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	p.V206M	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			6	753	-			206					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.616G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294703	0.60086	0.0	1.16E-4	ENSG00000123607	ENST00000243344	T	0.63255	-0.03	5.38	0.182	0.15077	Tetratricopeptide-like helical (1);	0.304109	0.34652	N	0.003790	T	0.57315	0.2045	M	0.83118	2.625	0.80722	D	1	P;P	0.40000	0.698;0.532	B;B	0.36134	0.168;0.218	T	0.54964	-0.8214	10	0.51188	T	0.08	-4.0321	7.0249	0.24934	0.0:0.6291:0.1142:0.2566	.	206;206	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	M	206	ENSP00000243344:V206M	ENSP00000243344:V206M	V	-	1	0	TTC21B	166505877	0.912000	0.30974	0.223000	0.23860	0.800000	0.45204	2.088000	0.41663	0.041000	0.15688	0.650000	0.86243	GTG		0.428	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		18	33	0	0	0	1	0	18	33				
STAC	6769	broad.mit.edu	37	3	36485034	36485034	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:36485034C>T	ENST00000273183.3	+	2	590	c.290C>T	c.(289-291)gCc>gTc	p.A97V	STAC_ENST00000457375.2_Missense_Mutation_p.A97V|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	97					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TCCACACCCGCCAGGGCTGGT	0.557																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(289-291)gCc>gTc		SH3 and cysteine rich domain							107.0	99.0	102.0					3																	36485034		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36485034C>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.290C>T	3.37:g.36485034C>T	ENSP00000273183:p.Ala97Val					STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.A97V	p.A97V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			2	590	+			97					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.290C>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558995	0.45590	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.75367	-0.93;1.02;0.9	4.89	4.89	0.63831	.	0.150419	0.46145	D	0.000308	T	0.56949	0.2020	N	0.08118	0	0.40880	D	0.983984	B;B	0.13594	0.008;0.0	B;B	0.12156	0.007;0.001	T	0.53208	-0.8471	10	0.22109	T	0.4	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	97;97	E9PEA7;Q99469	.;STAC_HUMAN	V	97;97;29;86	ENSP00000273183:A97V;ENSP00000393713:A97V;ENSP00000398403:A86V	ENSP00000273183:A97V	A	+	2	0	STAC	36460038	0.994000	0.37717	1.000000	0.80357	0.558000	0.35554	2.841000	0.48223	2.417000	0.82017	0.557000	0.71058	GCC		0.557	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		39	46	0	0	0	1	0	39	46				
NLGN4X	57502	broad.mit.edu	37	X	5821329	5821329	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:5821329C>T	ENST00000381095.3	-	5	2017	c.1390G>A	c.(1390-1392)Ggc>Agc	p.G464S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G484S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G464S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	464					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGGGAGCCGTACTGCGCG	0.612																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1390-1392)Ggc>Agc		neuroligin 4, X-linked							40.0	36.0	37.0					X																	5821329		2203	4296	6499	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821329C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1390G>A	X.37:g.5821329C>T	ENSP00000370485:p.Gly464Ser					NLGN4X_ENST00000381092.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G484S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G464S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G464S	p.G464S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2017	-			464					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1390G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119162	0.56505	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.71600	0.3359	M	0.66439	2.03	0.58432	D	0.999999	D;P;D	0.76494	0.999;0.807;0.998	P;P;D	0.65874	0.889;0.545;0.939	T	0.75175	-0.3410	9	0.56958	D	0.05	.	14.4946	0.67678	0.0:1.0:0.0:0.0	.	521;464;484	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	S	464;484;464;464;464	ENSP00000370485:G464S;ENSP00000370483:G484S;ENSP00000275857:G464S;ENSP00000370482:G464S;ENSP00000439203:G464S	ENSP00000275857:G464S	G	-	1	0	NLGN4X	5831329	1.000000	0.71417	0.753000	0.31225	0.034000	0.12701	6.722000	0.74735	1.579000	0.49836	0.600000	0.82982	GGC		0.612	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		8	20	0	0	0	1	0	8	20				
ASIC2	40	broad.mit.edu	37	17	32483083	32483083	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32483083G>A	ENST00000359872.6	-	1	1230	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	157					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ACACGGTGCAGGAACTCCAGC	0.577																																						ENST00000359872.6																			0											c.(469-471)Ctg>Ttg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						103.0	110.0	108.0					17																	32483083		2129	4252	6381	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483083G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.469C>T	17.37:g.32483083G>A							p.L157L	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1230	-			157					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.469C>T	CCDS42296.1																																																																																				0.577	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		42	49	0	0	0	1	0	42	49				
COL5A1	1289	broad.mit.edu	37	9	137721840	137721840	+	Missense_Mutation	SNP	C	C	T	rs369928730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137721840C>T	ENST00000371817.3	+	64	5500	c.5086C>T	c.(5086-5088)Ccc>Tcc	p.P1696S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1696	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)			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)		CACTTCTTGGCCCAAAGAAAA	0.557																																						ENST00000371817.3																			0				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						c.(5086-5088)Ccc>Tcc		collagen, type V, alpha 1							73.0	69.0	70.0					9																	137721840		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.chr9:137721840C>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.5086C>T	9.37:g.137721840C>T	ENSP00000360882:p.Pro1696Ser						p.P1696S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	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)	64	5500	+		Myeloproliferative disorder(178;0.0341)	1696			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.5086C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607861	0.28623	.	.	ENSG00000130635	ENST00000371817	T	0.72282	-0.64	4.99	4.99	0.66335	Fibrillar collagen, C-terminal (3);	0.162989	0.41500	U	0.000868	T	0.57946	0.2088	N	0.21142	0.635	0.47994	D	0.999562	B	0.22909	0.077	B	0.18561	0.022	T	0.53358	-0.8450	10	0.18276	T	0.48	.	18.6249	0.91333	0.0:1.0:0.0:0.0	.	1696	P20908	CO5A1_HUMAN	S	1696	ENSP00000360882:P1696S	ENSP00000360882:P1696S	P	+	1	0	COL5A1	136861661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.303000	0.51858	2.453000	0.82957	0.655000	0.94253	CCC		0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		18	23	0	0	0	1	0	18	23				
CUL5	8065	broad.mit.edu	37	11	107920642	107920642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107920642C>T	ENST00000393094.2	+	4	876	c.260C>T	c.(259-261)aCg>aTg	p.T87M		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	87					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAAGATGATACGGCTTTGCTA	0.323																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(259-261)aCg>aTg		cullin 5							85.0	79.0	81.0					11																	107920642		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107920642C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.260C>T	11.37:g.107920642C>T	ENSP00000376808:p.Thr87Met						p.T87M	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	4	876	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	87					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.260C>T	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933436	0.73442	.	.	ENSG00000166266	ENST00000393094	T	0.31769	1.48	5.83	5.83	0.93111	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.098909	0.64402	D	0.000001	T	0.29945	0.0749	L	0.36672	1.1	0.80722	D	1	P	0.42871	0.792	B	0.38156	0.266	T	0.06373	-1.0830	10	0.72032	D	0.01	-18.7075	20.1338	0.98010	0.0:1.0:0.0:0.0	.	87	Q93034	CUL5_HUMAN	M	87	ENSP00000376808:T87M	ENSP00000376808:T87M	T	+	2	0	CUL5	107425852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.770000	0.95276	0.655000	0.94253	ACG		0.323	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			9	31	0	0	0	1	0	9	31				
HERC1	8925	broad.mit.edu	37	15	64005614	64005614	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64005614T>C	ENST00000443617.2	-	23	4488	c.4401A>G	c.(4399-4401)agA>agG	p.R1467R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1467					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCTTCTTCTCTTCGCTTCT	0.488																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(4399-4401)agA>agG		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							91.0	89.0	90.0					15																	64005614		2027	4181	6208	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005614T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4401A>G	15.37:g.64005614T>C						RP11-317G6.1_ENST00000559303.2_RNA	p.R1467R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			23	4488	-			1467					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.4401A>G	CCDS45277.1																																																																																				0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		22	41	0	0	0	1	0	22	41				
FBXO18	84893	broad.mit.edu	37	10	5955734	5955734	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5955734C>T	ENST00000362091.4	+	7	1351	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	FBXO18_ENST00000379999.5_Silent_p.C463C|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	412					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTTTCTATTGCCTATATCTTC	0.393																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1387-1389)tgC>tgT		F-box protein, helicase, 18							162.0	154.0	157.0					10																	5955734		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5955734C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1236C>T	10.37:g.5955734C>T						FBXO18_ENST00000362091.4_Silent_p.C412C|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Silent_p.C149C	p.C463C	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			8	1493	+			412					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.1389C>T	CCDS7072.1																																																																																				0.393	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		30	34	0	0	0	1	0	30	34				
MYH9	4627	broad.mit.edu	37	22	36682850	36682850	+	Missense_Mutation	SNP	C	C	T	rs371410108		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36682850C>T	ENST00000216181.5	-	35	5205	c.4975G>A	c.(4975-4977)Gcc>Acc	p.A1659T	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1659					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCACGAGAGGCGCGGGTGTCA	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4975-4977)Gcc>Acc		myosin, heavy chain 9, non-muscle		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	142.0	121.0	128.0		4975	2.2	0.1	22		128	0,8600		0,0,4300	no	missense	MYH9	NM_002473.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1659/1961	36682850	1,13005	2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36682850C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4975G>A	22.37:g.36682850C>T	ENSP00000216181:p.Ala1659Thr		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.A1659T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			35	5205	-			1659					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4975G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844277	0.16963	2.27E-4	0.0	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79247	-1.25	5.4	2.2	0.27929	Myosin tail (1);	0.509560	0.21865	N	0.067976	T	0.68054	0.2959	L	0.43598	1.365	0.20196	N	0.999926	B	0.11235	0.004	B	0.23275	0.045	T	0.60831	-0.7185	10	0.56958	D	0.05	.	7.9039	0.29750	0.0:0.6391:0.0:0.3609	.	1659	P35579	MYH9_HUMAN	T	1081;261;1659	ENSP00000216181:A1659T	ENSP00000216181:A1659T	A	-	1	0	MYH9	35012796	0.003000	0.15002	0.125000	0.21846	0.165000	0.22458	-0.027000	0.12371	0.645000	0.30675	-0.252000	0.11476	GCC		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		33	63	0	0	0	1	0	33	63				
BZRAP1	9256	broad.mit.edu	37	17	56387880	56387880	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56387880C>A	ENST00000343736.4	-	20	3855	c.3692G>T	c.(3691-3693)aGg>aTg	p.R1231M	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1171M|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1231M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1231						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCTCAGCCCTGGGCCTCAG	0.627																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3691-3693)aGg>aTg		benzodiazapine receptor (peripheral) associated protein 1							36.0	42.0	40.0					17																	56387880		2196	4294	6490	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387880C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3692G>T	17.37:g.56387880C>A	ENSP00000345824:p.Arg1231Met					BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1171M|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1231M	p.R1231M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			20	4562	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1231					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3692G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130429	0.56828	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.89196	-2.48;-2.48;-2.48	5.71	2.7	0.31948	.	0.536843	0.22365	N	0.061027	D	0.91798	0.7405	M	0.63843	1.955	0.29506	N	0.854578	P;D;D	0.89917	0.913;1.0;0.998	B;D;D	0.85130	0.443;0.997;0.975	D	0.86155	0.1590	10	0.59425	D	0.04	.	7.814	0.29247	0.0:0.7457:0.0:0.2543	.	1231;1171;1231	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	1231;1231;1171	ENSP00000347929:R1231M;ENSP00000345824:R1231M;ENSP00000268893:R1171M	ENSP00000268893:R1171M	R	-	2	0	BZRAP1	53742879	0.809000	0.29036	0.580000	0.28601	0.855000	0.48748	1.305000	0.33493	0.370000	0.24538	-0.379000	0.06801	AGG		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	24	1	0	3.07112e-06	1	3.18879e-06	12	24				
ARHGEF4	50649	broad.mit.edu	37	2	131799001	131799001	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131799001G>A	ENST00000326016.5	+	9	1822	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A375T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A435T|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A364T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A435T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	435	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCTGCAGCTGGCCGAGCTGCT	0.612																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1303-1305)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 4							38.0	35.0	36.0					2																	131799001		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131799001G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1303G>A	2.37:g.131799001G>A	ENSP00000316845:p.Ala435Thr					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A375T|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A364T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A435T|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.A435T	p.A435T	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	9	1822	+		Prostate(154;0.055)	435			DH.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1303G>A	CCDS2165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.839732|5.839732	0.97009|0.97009	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;1.6;-0.28|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61073|0.61073	0.2318|0.2318	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.997;0.953;0.994|.	D;P;D|.	0.68621|.	0.953;0.837;0.959|.	T|T	0.56715|0.56715	-0.7933|-0.7933	10|5	0.59425|.	D|.	0.04|.	.|.	16.5152|16.5152	0.84297|0.84297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	375;435;435|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	T|D	435;435;435;375;364|51	ENSP00000316845:A435T;ENSP00000376680:A435T;ENSP00000432267:A435T;ENSP00000387285:A375T;ENSP00000348017:A364T|.	ENSP00000316845:A435T|.	A|G	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515471|131515471	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	9.183000|9.183000	0.94887|0.94887	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.612	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			10	24	0	0	0	1	0	10	24				
FLT1	2321	broad.mit.edu	37	13	29001983	29001983	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29001983G>A	ENST00000282397.4	-	9	1433	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	FLT1_ENST00000539099.1_Silent_p.D394D|FLT1_ENST00000541932.1_Silent_p.D394D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	394	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGTTACGTCCTTGATAA	0.388																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1180-1182)gaC>gaT		fms-related tyrosine kinase 1	Sunitinib(DB01268)						141.0	126.0	131.0					13																	29001983		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001983G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1182C>T	13.37:g.29001983G>A						FLT1_ENST00000539099.1_Silent_p.D394D|FLT1_ENST00000541932.1_Silent_p.D394D	p.D394D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1433	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	394			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.1182C>T	CCDS9330.1																																																																																				0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			29	48	0	0	0	1	0	29	48				
FLNC	2318	broad.mit.edu	37	7	128480708	128480708	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128480708C>T	ENST00000325888.8	+	10	1917	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	FLNC_ENST00000346177.6_Silent_p.G552G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	552					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACGTGGGGCGGCTACGCCA	0.642																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1654-1656)ggC>ggT		filamin C, gamma							153.0	172.0	166.0					7																	128480708		2142	4236	6378	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480708C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1656C>T	7.37:g.128480708C>T						FLNC_ENST00000346177.6_Silent_p.G552G	p.G552G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			10	1917	+			552					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1656C>T	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			36	51	0	0	0	1	0	36	51				
HADH	3033	broad.mit.edu	37	4	108954379	108954379	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:108954379G>A	ENST00000309522.3	+	7	906	c.757G>A	c.(757-759)Ggt>Agt	p.G253S	HADH_ENST00000403312.1_Missense_Mutation_p.G329S|HADH_ENST00000603302.1_Missense_Mutation_p.G270S|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000505878.1_Missense_Mutation_p.G257S|HADH_ENST00000454409.2_Missense_Mutation_p.G257S	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	579					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ATTAGGAGCCGGTTACCCCAT	0.453																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(769-771)Ggt>Agt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						149.0	141.0	144.0					4																	108954379		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954379G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.757G>A	4.37:g.108954379G>A	ENSP00000312288:p.Gly253Ser					HADH_ENST00000510728.1_3'UTR|HADH_ENST00000603302.1_Missense_Mutation_p.G270S|HADH_ENST00000403312.1_Missense_Mutation_p.G329S|HADH_ENST00000309522.3_Missense_Mutation_p.G253S|HADH_ENST00000454409.2_Missense_Mutation_p.G257S	p.G257S			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	1042	+		Hepatocellular(203;0.217)	253					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.769G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473643	0.96291	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.98150	-4.75;-4.75;-4.75	5.86	5.86	0.93980	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.975;0.976;0.976	D	0.99116	1.0848	10	0.44086	T	0.13	-30.2368	18.9646	0.92691	0.0:0.0:1.0:0.0	.	329;257;253	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	S	270;253;257;257	ENSP00000312288:G253S;ENSP00000425952:G257S;ENSP00000395167:G257S	ENSP00000312288:G253S	G	+	1	0	HADH	109173828	1.000000	0.71417	0.480000	0.27341	0.869000	0.49853	9.548000	0.98103	2.771000	0.95319	0.563000	0.77884	GGT		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		37	41	0	0	0	1	0	37	41				
PCDHB7	56129	broad.mit.edu	37	5	140552434	140552434	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140552434G>A	ENST00000231137.3	+	1	192	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGTGGAGCGTGCTGTGC	0.498																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(16-18)gaG>gaA									170.0	143.0	152.0					5																	140552434		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552434G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.18G>A	5.37:g.140552434G>A							p.E6E	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	192	+			6					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.18G>A	CCDS4249.1																																																																																				0.498	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	42	0	0	0	1	0	8	42				
CCPG1	9236	broad.mit.edu	37	15	55669190	55669190	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55669190G>A	ENST00000310958.6	-	5	709	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CCPG1_ENST00000442196.3_Silent_p.G137G|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.G137G|CCPG1_ENST00000425574.3_Silent_p.G137G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	137	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAGAGGAAGAGCCCATGTTAA	0.383																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(409-411)ggC>ggT		cell cycle progression 1							91.0	88.0	89.0					15																	55669190		1833	4079	5912	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55669190G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.411C>T	15.37:g.55669190G>A						CCPG1_ENST00000569205.1_Silent_p.G137G|CCPG1_ENST00000442196.3_Silent_p.G137G|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Silent_p.G137G	p.G137G	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	5	709	-			137			Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.411C>T	CCDS42039.1																																																																																				0.383	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		34	42	0	0	0	1	0	34	42				
OR1N1	138883	broad.mit.edu	37	9	125289100	125289100	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125289100G>A	ENST00000304880.2	-	1	472	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATGAGGAACGTGTGAGTCAG	0.532																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(472-474)aCg>aTg		olfactory receptor, family 1, subfamily N, member 1							113.0	92.0	99.0					9																	125289100		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289100G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.473C>T	9.37:g.125289100G>A	ENSP00000306974:p.Thr158Met						p.T158M	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	472	-			158					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.473C>T	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625522	0.46840	.	.	ENSG00000171505	ENST00000304880	T	0.00265	8.39	3.75	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002452	T	0.00468	0.0015	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.35895	-0.9770	10	0.87932	D	0	.	7.5613	0.27853	0.2064:0.0:0.7936:0.0	.	158	Q8NGS0	OR1N1_HUMAN	M	158	ENSP00000306974:T158M	ENSP00000306974:T158M	T	-	2	0	OR1N1	124328921	0.001000	0.12720	0.388000	0.26195	0.028000	0.11728	1.058000	0.30504	1.979000	0.57680	0.545000	0.68477	ACG		0.532	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			10	11	0	0	0	1	0	10	11				
GAB1	2549	broad.mit.edu	37	4	144359424	144359424	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:144359424C>A	ENST00000262994.4	+	4	1168	c.866C>A	c.(865-867)aCc>aAc	p.T289N	GAB1_ENST00000505913.1_Missense_Mutation_p.T186N|GAB1_ENST00000262995.4_Missense_Mutation_p.T289N	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	289					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTTTAATACCCCATCTGGG	0.413																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(865-867)aCc>aAc		GRB2-associated binding protein 1							67.0	66.0	66.0					4																	144359424		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359424C>A	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.866C>A	4.37:g.144359424C>A	ENSP00000262994:p.Thr289Asn					GAB1_ENST00000262994.4_Missense_Mutation_p.T289N|GAB1_ENST00000505913.1_Missense_Mutation_p.T186N	p.T289N	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			4	1293	+	all_hematologic(180;0.158)		289					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.866C>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048480	0.75846	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.38722	1.12;1.12;1.12	5.8	5.8	0.92144	.	0.046236	0.85682	D	0.000000	T	0.57621	0.2066	M	0.71581	2.175	0.58432	D	0.999999	P;P	0.52061	0.895;0.95	B;P	0.53146	0.446;0.719	T	0.55341	-0.8156	10	0.41790	T	0.15	-1.8093	18.2436	0.89977	0.0:1.0:0.0:0.0	.	289;289	Q13480;Q13480-2	GAB1_HUMAN;.	N	289;289;186	ENSP00000262995:T289N;ENSP00000262994:T289N;ENSP00000424554:T186N	ENSP00000262994:T289N	T	+	2	0	GAB1	144578874	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.261000	0.65496	2.735000	0.93741	0.655000	0.94253	ACC		0.413	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		32	54	1	0	1.7881e-09	1	1.90035e-09	32	54				
DCAF5	8816	broad.mit.edu	37	14	69558433	69558433	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69558433T>C	ENST00000341516.5	-	6	984	c.837A>G	c.(835-837)tcA>tcG	p.S279S	DCAF5_ENST00000389997.6_Silent_p.S279S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Silent_p.S197S|DCAF5_ENST00000557386.1_Silent_p.S278S|DCAF5_ENST00000556847.1_Silent_p.S197S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	279					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCATGGTGCATGAGTTGAAGT	0.507																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(835-837)tcA>tcG		DDB1 and CUL4 associated factor 5							99.0	96.0	97.0					14																	69558433		2203	4300	6503	SO:0001819	synonymous_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69558433T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.837A>G	14.37:g.69558433T>C						DCAF5_ENST00000554215.1_Silent_p.S197S|DCAF5_ENST00000557386.1_Silent_p.S278S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.S197S|DCAF5_ENST00000389997.6_Silent_p.S279S	p.S279S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			6	984	-			279					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	c.837A>G	CCDS32106.1																																																																																				0.507	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		25	40	0	0	0	1	0	25	40				
LARS	51520	broad.mit.edu	37	5	145533300	145533300	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:145533300C>A	ENST00000394434.2	-	12	1393	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	LARS_ENST00000274562.9_Missense_Mutation_p.K382N|LARS_ENST00000545646.1_Missense_Mutation_p.K363N|LARS_ENST00000510191.1_Missense_Mutation_p.K355N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	409	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACTTACTTGCTTTTTCTTCA	0.428																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1225-1227)aaG>aaT		leucyl-tRNA synthetase	L-Leucine(DB00149)						133.0	123.0	126.0					5																	145533300		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145533300C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1227G>T	5.37:g.145533300C>A	ENSP00000377954:p.Lys409Asn					LARS_ENST00000510191.1_Missense_Mutation_p.K355N|LARS_ENST00000274562.9_Missense_Mutation_p.K382N|LARS_ENST00000545646.1_Missense_Mutation_p.K363N	p.K409N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1393	-			409			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1227G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819469	0.71028	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.72	1.36	0.22044	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	M	0.79475	2.455	0.80722	D	1	D;D;D	0.67145	0.963;0.996;0.969	P;P;P	0.52710	0.622;0.707;0.62	T	0.41610	-0.9499	10	0.41790	T	0.15	-11.7887	8.5797	0.33621	0.0:0.4847:0.0:0.5153	.	382;363;409	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	409;363;355;382	ENSP00000377954:K409N;ENSP00000437791:K363N;ENSP00000426005:K355N;ENSP00000274562:K382N	ENSP00000274562:K382N	K	-	3	2	LARS	145513493	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.626000	0.37039	0.430000	0.26230	-0.142000	0.14014	AAG		0.428	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		11	23	1	0	5.16669e-11	1	5.54509e-11	11	23				
KRT14	3861	broad.mit.edu	37	17	39739362	39739362	+	Silent	SNP	C	C	T	rs373307934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39739362C>T	ENST00000167586.6	-	7	1391	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	435	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGATGACTGCGATCCAGAGG	0.592																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(1303-1305)tcG>tcA		keratin 14		C		0,4406		0,0,2203	67.0	74.0	71.0		1305	-0.6	1.0	17		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT14	NM_000526.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		435/473	39739362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739362C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1305G>A	17.37:g.39739362C>T							p.S435S	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			7	1391	-		Breast(137;0.000307)	435			Interaction with Type I keratins and keratin filaments.|Tail.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.1305G>A	CCDS11400.1																																																																																				0.592	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		20	35	0	0	0	1	0	20	35				
CPXM2	119587	broad.mit.edu	37	10	125528099	125528099	+	Silent	SNP	C	C	T	rs370958461		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125528099C>T	ENST00000241305.3	-	9	1396	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	414					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTGAATCCGCGTCTCCTCCA	0.632																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1240-1242)acG>acA		carboxypeptidase X (M14 family), member 2		C		1,4405	2.1+/-5.4	0,1,2202	98.0	83.0	88.0		1242	-0.5	0.9	10		88	0,8600		0,0,4300	no	coding-synonymous	CPXM2	NM_198148.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		414/757	125528099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528099C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1242G>A	10.37:g.125528099C>T						CPXM2_ENST00000368854.3_5'UTR	p.T414T	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1396	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	414					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1242G>A	CCDS7637.1																																																																																				0.632	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		18	30	0	0	0	1	0	18	30				
STIL	6491	broad.mit.edu	37	1	47735351	47735351	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47735351G>A	ENST00000360380.3	-	15	2934	c.2571C>T	c.(2569-2571)aaC>aaT	p.N857N	STIL_ENST00000371877.3_Silent_p.N857N|STIL_ENST00000396221.2_Silent_p.N857N|STIL_ENST00000337817.5_Silent_p.N857N|STIL_ENST00000243182.6_Silent_p.N857N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	857					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CCACAGCAATGTTGCTCTCTT	0.328																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(2569-2571)aaC>aaT		SCL/TAL1 interrupting locus							101.0	104.0	103.0					1																	47735351		2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47735351G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2571C>T	1.37:g.47735351G>A						STIL_ENST00000243182.6_Silent_p.N857N|STIL_ENST00000337817.5_Silent_p.N857N|STIL_ENST00000371877.3_Silent_p.N857N|STIL_ENST00000396221.2_Silent_p.N857N	p.N857N			Q15468	STIL_HUMAN			15	2934	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	857					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.2571C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	8.287	0.816832	0.16607	.	.	ENSG00000123473	ENST00000436811	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	-6.6402	6.8664	0.24096	0.1602:0.0:0.8398:0.0	.	.	.	.	Y	197	.	.	H	-	1	0	STIL	47507938	0.829000	0.29322	0.999000	0.59377	0.989000	0.77384	1.353000	0.34045	2.314000	0.78098	0.462000	0.41574	CAT		0.328	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		32	36	0	0	0	1	0	32	36				
SLC4A5	57835	broad.mit.edu	37	2	74492358	74492358	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74492358G>A	ENST00000377634.4	-	9	834	c.435C>T	c.(433-435)ggC>ggT	p.G145G	SLC4A5_ENST00000357822.5_Silent_p.G145G|SLC4A5_ENST00000359484.4_Silent_p.G81G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.G145G|SLC4A5_ENST00000346834.4_Silent_p.G145G|SLC4A5_ENST00000358683.4_Silent_p.G81G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.G145G|SLC4A5_ENST00000423644.1_Silent_p.G145G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCGTTCGCCGCCTTCCTCTA	0.612																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(433-435)ggC>ggT		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							139.0	133.0	135.0					2																	74492358		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74492358G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.435C>T	2.37:g.74492358G>A						RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.G145G|SLC4A5_ENST00000357822.5_Silent_p.G145G|SLC4A5_ENST00000377632.1_Silent_p.G145G|SLC4A5_ENST00000359484.4_Silent_p.G81G|SLC4A5_ENST00000358683.4_Silent_p.G81G|SLC4A5_ENST00000346834.4_Silent_p.G145G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.G145G	p.G145G	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			9	832	-			145						Silent	SNP	ENST00000377634.4	37	c.435C>T	CCDS1936.1																																																																																				0.612	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			15	53	0	0	0	1	0	15	53				
MAP1A	4130	broad.mit.edu	37	15	43818078	43818078	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43818078G>A	ENST00000300231.5	+	4	4857	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K	MAP1A_ENST00000382031.1_Silent_p.K1707K|MAP1A_ENST00000399453.1_Silent_p.K1469K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1469					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAAGGACAAGGCCCTGGAAC	0.428																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(5119-5121)aaG>aaA		microtubule-associated protein 1A	Estramustine(DB01196)						90.0	89.0	89.0					15																	43818078		1867	4098	5965	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818078G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4407G>A	15.37:g.43818078G>A						MAP1A_ENST00000399453.1_Silent_p.K1469K|MAP1A_ENST00000300231.5_Silent_p.K1469K	p.K1707K			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	5152	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1469					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.5121G>A	CCDS42031.1																																																																																				0.428	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		12	12	0	0	0	1	0	12	12				
RNF103	7844	broad.mit.edu	37	2	86832362	86832362	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86832362T>C	ENST00000237455.4	-	4	1630	c.662A>G	c.(661-663)gAa>gGa	p.E221G	AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	221					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTTCAAGTGTTCAGCATTATA	0.368																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(661-663)gAa>gGa		ring finger protein 103							114.0	116.0	115.0					2																	86832362		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832362T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.662A>G	2.37:g.86832362T>C	ENSP00000237455:p.Glu221Gly					AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron	p.E221G	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	1630	-			221					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.662A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643015	0.29246	.	.	ENSG00000239305	ENST00000237455	T	0.47869	0.83	5.64	4.47	0.54385	.	0.249502	0.45606	D	0.000349	T	0.33702	0.0872	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16541	-1.0399	10	0.52906	T	0.07	-4.1389	11.7518	0.51853	0.0:0.0701:0.0:0.9299	.	221	O00237	RN103_HUMAN	G	221	ENSP00000237455:E221G	ENSP00000237455:E221G	E	-	2	0	RNF103	86685873	0.947000	0.32204	1.000000	0.80357	0.990000	0.78478	2.961000	0.49168	2.148000	0.66965	0.460000	0.39030	GAA		0.368	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		41	59	0	0	0	1	0	41	59				
ZAP70	7535	broad.mit.edu	37	2	98351166	98351166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98351166G>A	ENST00000264972.5	+	9	1288	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R51H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R232H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGTGTACCGCATGCGCAAG	0.637																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1072-1074)cGc>cAc		zeta-chain (TCR) associated protein kinase 70kDa							98.0	83.0	88.0					2																	98351166		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351166G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1073G>A	2.37:g.98351166G>A	ENSP00000264972:p.Arg358His					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R232H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51H	p.R358H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			9	1288	+			358			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1073G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765838	0.90020	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.82984	-1.67;-1.67;-1.67	5.41	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.224847	0.22732	N	0.056310	T	0.78298	0.4261	L	0.45285	1.41	0.41098	D	0.985648	D;P	0.56521	0.976;0.929	P;P	0.48141	0.541;0.568	T	0.79029	-0.1970	10	0.72032	D	0.01	.	5.6947	0.17849	0.2274:0.0:0.7726:0.0	.	232;358	P43403-3;P43403	.;ZAP70_HUMAN	H	358;232;51	ENSP00000264972:R358H;ENSP00000411141:R232H;ENSP00000400475:R51H	ENSP00000264972:R358H	R	+	2	0	ZAP70	97717598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.765000	0.74965	2.723000	0.93209	0.655000	0.94253	CGC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			17	23	0	0	0	1	0	17	23				
ZNF101	94039	broad.mit.edu	37	19	19790271	19790271	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19790271G>A	ENST00000592502.1	+	4	583	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R38Q			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGTGGTGCACGGCGCACAGTA	0.483																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(472-474)cGg>cAg		zinc finger protein 101							95.0	95.0	95.0					19																	19790271		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790271G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.473G>A	19.37:g.19790271G>A	ENSP00000468049:p.Arg158Gln					ZNF101_ENST00000415784.2_Missense_Mutation_p.R38Q|ZNF101_ENST00000444249.2_3'UTR	p.R158Q			Q8IZC7	ZN101_HUMAN			4	583	+			158					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.473G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	4.917	0.170455	0.09391	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.08008	3.14;3.14	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999993	B	0.13145	0.007	B	0.04013	0.001	T	0.46843	-0.9162	8	0.11794	T	0.64	.	.	.	.	.	158	Q8IZC7	ZN101_HUMAN	Q	158;158;38	ENSP00000319716:R158Q;ENSP00000400952:R38Q	ENSP00000319716:R158Q	R	+	2	0	ZNF101	19651271	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-3.177000	0.00570	-0.748000	0.04753	-0.752000	0.03492	CGG		0.483	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		34	32	0	0	0	1	0	34	32				
TSSK2	23617	broad.mit.edu	37	22	19119414	19119414	+	Missense_Mutation	SNP	C	C	T	rs200993519		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19119414C>T	ENST00000399635.2	+	1	1094	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGCAATGGGCGCATCATCCT	0.587																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(502-504)Cgc>Tgc		testis-specific serine kinase 2		C	,CYS/ARG	0,4406		0,0,2203	123.0	111.0	115.0		,502	3.2	0.1	22		115	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,168/359	19119414	1,13005	2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119414C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.502C>T	22.37:g.19119414C>T	ENSP00000382544:p.Arg168Cys					DGCR14_ENST00000252137.6_3'UTR	p.R168C	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1094	+	Colorectal(54;0.0993)		168			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.502C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963636	0.18583	0.0	1.16E-4	ENSG00000206203	ENST00000399635	T	0.66995	-0.24	5.48	3.19	0.36642	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149550	0.30762	N	0.008937	T	0.58481	0.2125	L	0.54323	1.7	0.09310	N	1	B	0.30605	0.287	B	0.28385	0.089	T	0.55774	-0.8088	10	0.44086	T	0.13	.	11.7575	0.51884	0.2734:0.7266:0.0:0.0	.	168	Q96PF2	TSSK2_HUMAN	C	168	ENSP00000382544:R168C	ENSP00000382544:R168C	R	+	1	0	TSSK2	17499414	0.000000	0.05858	0.057000	0.19452	0.374000	0.29953	0.052000	0.14163	2.575000	0.86900	0.655000	0.94253	CGC		0.587	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			26	40	0	0	0	1	0	26	40				
DLGAP3	58512	broad.mit.edu	37	1	35370527	35370527	+	Missense_Mutation	SNP	G	G	A	rs567556607		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35370527G>A	ENST00000373347.1	-	3	726	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.A153V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	153					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGTCCCTGGCGCTGGCCCGGG	0.612													g|||	1	0.000199681	0.0	0.0014	5008	,	,		10671	0.0		0.0	False		,,,				2504	0.0					ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(457-459)gCg>gTg		discs, large (Drosophila) homolog-associated protein 3							17.0	18.0	18.0					1																	35370527		2197	4287	6484	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370527G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.458C>T	1.37:g.35370527G>A	ENSP00000362444:p.Ala153Val					DLGAP3_ENST00000235180.4_Missense_Mutation_p.A153V	p.A153V			O95886	DLGP3_HUMAN			3	726	-		Myeloproliferative disorder(586;0.0393)	153					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.458C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257099	0.22965	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.25414	1.8;1.8	4.13	0.865	0.19074	.	0.429192	0.17306	N	0.179064	T	0.10723	0.0262	N	0.08118	0	0.23478	N	0.997595	B	0.25105	0.118	B	0.16289	0.015	T	0.22977	-1.0201	10	0.35671	T	0.21	-5.3706	7.3292	0.26573	0.0:0.3886:0.505:0.1065	.	153	O95886	DLGP3_HUMAN	V	153	ENSP00000362444:A153V;ENSP00000235180:A153V	ENSP00000235180:A153V	A	-	2	0	DLGAP3	35143114	.	.	0.444000	0.26895	0.477000	0.33069	.	.	0.329000	0.23460	-0.537000	0.04273	GCG		0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	9	0	0	0	1	0	7	9				
LGALS7B	653499	broad.mit.edu	37	19	39281406	39281406	+	Missense_Mutation	SNP	C	C	T	rs548125638	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39281406C>T	ENST00000314980.4	+	3	189	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	58	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.S58L(1)									CTGGACACGTCGGAGGTGGTC	0.672																																						ENST00000314980.4																			1	Substitution - Missense(1)	p.S58L(1)	large_intestine(1)								c.(172-174)tCg>tTg		lectin, galactoside-binding, soluble, 7B							27.0	30.0	29.0					19																	39281406		2201	4296	6497	SO:0001583	missense	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281406C>T		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.173C>T	19.37:g.39281406C>T	ENSP00000313571:p.Ser58Leu						p.S58L	NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN			3	189	+			58			Galectin.		Q6IB87	Missense_Mutation	SNP	ENST00000314980.4	37	c.173C>T	CCDS42565.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284120	0.59867	.	.	ENSG00000178934	ENST00000314980	T	0.18657	2.2	4.07	-1.81	0.07882	.	0.950501	0.08674	N	0.910450	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.62326	D	0.03	-26.194	7.4277	0.27109	0.2865:0.2482:0.4653:0.0	.	.	.	.	L	58	ENSP00000313571:S58L	ENSP00000313571:S58L	S	+	2	0	LGALS7B	43973246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.288000	0.18939	-0.005000	0.14395	-0.182000	0.12963	TCG		0.672	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1			7	32	0	0	0	1	0	7	32				
NUP205	23165	broad.mit.edu	37	7	135312833	135312833	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135312833G>A	ENST00000285968.6	+	34	4932	c.4906G>A	c.(4906-4908)Gcc>Acc	p.A1636T		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1636					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATCTAGTATGGCCCAGCACTT	0.502																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4906-4908)Gcc>Acc		nucleoporin 205kDa							152.0	142.0	145.0					7																	135312833		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135312833G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4906G>A	7.37:g.135312833G>A	ENSP00000285968:p.Ala1636Thr						p.A1636T	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			34	4932	+			1636					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4906G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481259	0.26598	.	.	ENSG00000155561	ENST00000285968	T	0.27890	1.64	5.84	4.94	0.65067	.	0.200452	0.52532	D	0.000061	T	0.22322	0.0538	N	0.24115	0.695	0.80722	D	1	B	0.15141	0.012	B	0.21917	0.037	T	0.04360	-1.0957	10	0.12766	T	0.61	-2.5042	15.9052	0.79423	0.0:0.0:0.8598:0.1402	.	1636	Q92621	NU205_HUMAN	T	1636	ENSP00000285968:A1636T	ENSP00000285968:A1636T	A	+	1	0	NUP205	134963373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.797000	0.55514	1.411000	0.46957	0.650000	0.86243	GCC		0.502	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			40	48	0	0	0	1	0	40	48				
ESRRB	2103	broad.mit.edu	37	14	76928912	76928912	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76928912C>T	ENST00000509242.1	+	4	520	c.422C>T	c.(421-423)gCc>gTc	p.A141V	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.A141V|ESRRB_ENST00000380887.2_Missense_Mutation_p.A141V|ESRRB_ENST00000261532.7_Missense_Mutation_p.A141V	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	141					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGCTGCCCGGCCACCAACGAG	0.627																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(421-423)gCc>gTc		estrogen-related receptor beta							57.0	55.0	56.0					14																	76928912		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76928912C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.422C>T	14.37:g.76928912C>T	ENSP00000422488:p.Ala141Val					ESRRB_ENST00000261532.7_Missense_Mutation_p.A141V|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.A141V|ESRRB_ENST00000556177.1_Missense_Mutation_p.A141V	p.A141V			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	494	+			141					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.422C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388924	0.82902	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.08	5.08	0.68730	.	0.052451	0.85682	D	0.000000	D	0.95847	0.8648	L	0.56280	1.765	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.23716	0.048;0.048	D	0.93547	0.6883	10	0.52906	T	0.07	.	18.5454	0.91044	0.0:1.0:0.0:0.0	.	141;146	Q5F0P7;E7EWD9	.;.	V	146;141;141;141;141	ENSP00000424992:A146V;ENSP00000422488:A141V;ENSP00000451658:A141V;ENSP00000370270:A141V;ENSP00000261532:A141V	ENSP00000261532:A141V	A	+	2	0	ESRRB	75998665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.372000	0.80975	0.555000	0.69702	GCC		0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			16	23	0	0	0	1	0	16	23				
FOXRED2	80020	broad.mit.edu	37	22	36902184	36902184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36902184G>A	ENST00000397224.4	-	2	379	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R96C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R96C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	96					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGTCGTGGCGGAGGTTGAAC	0.647																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(286-288)Cgc>Tgc		FAD-dependent oxidoreductase domain containing 2							146.0	110.0	122.0					22																	36902184		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36902184G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.286C>T	22.37:g.36902184G>A	ENSP00000380401:p.Arg96Cys					FOXRED2_ENST00000397223.4_Missense_Mutation_p.R96C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R96C	p.R96C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			2	379	-			96					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.286C>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478068	0.96291	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.25085	1.82;1.82;1.82	5.04	5.04	0.67666	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67829	-0.5569	10	0.87932	D	0	-31.8695	16.5574	0.84490	0.0:0.0:1.0:0.0	.	96	Q8IWF2	FXRD2_HUMAN	C	96	ENSP00000380401:R96C;ENSP00000216187:R96C;ENSP00000380400:R96C	ENSP00000216187:R96C	R	-	1	0	FOXRED2	35232130	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.725000	0.84808	2.337000	0.79520	0.561000	0.74099	CGC		0.647	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		19	19	0	0	0	1	0	19	19				
ILF3	3609	broad.mit.edu	37	19	10791067	10791067	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10791067C>T	ENST00000590261.1	+	8	905	c.905C>T	c.(904-906)gCt>gTt	p.A302V	ILF3_ENST00000589998.1_Missense_Mutation_p.A302V|ILF3_ENST00000449870.1_Missense_Mutation_p.A302V|ILF3_ENST00000407004.3_Missense_Mutation_p.A302V|ILF3_ENST00000250241.8_Missense_Mutation_p.A302V|ILF3_ENST00000588657.1_Missense_Mutation_p.A302V|ILF3_ENST00000318511.3_Missense_Mutation_p.A302V|ILF3_ENST00000420083.1_Missense_Mutation_p.A302V|ILF3_ENST00000592763.1_Missense_Mutation_p.A302V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	302	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCCACTGATGCTATTGGGCAT	0.468																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(904-906)gCt>gTt		interleukin enhancer binding factor 3, 90kDa							147.0	135.0	139.0					19																	10791067		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10791067C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.905C>T	19.37:g.10791067C>T	ENSP00000468156:p.Ala302Val					ILF3_ENST00000407004.3_Missense_Mutation_p.A302V|ILF3_ENST00000589998.1_Missense_Mutation_p.A302V|ILF3_ENST00000588657.1_Missense_Mutation_p.A302V|ILF3_ENST00000318511.3_Missense_Mutation_p.A302V|ILF3_ENST00000590261.1_Missense_Mutation_p.A302V|ILF3_ENST00000250241.8_Missense_Mutation_p.A302V|ILF3_ENST00000420083.1_Missense_Mutation_p.A302V|ILF3_ENST00000592763.1_Missense_Mutation_p.A302V	p.A302V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		9	1222	+			302			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.905C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692822	0.68271	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	DZF (2);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.42632	1.34	0.58432	D	0.999998	D;D;D;P;D;D	0.89917	0.996;1.0;0.999;0.911;1.0;0.998	D;D;D;P;D;D	0.85130	0.99;0.997;0.996;0.55;0.997;0.994	T	0.49390	-0.8945	10	0.46703	T	0.11	.	18.4811	0.90812	0.0:1.0:0.0:0.0	.	302;302;302;302;302;302	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	V	302	ENSP00000404121:A302V;ENSP00000315205:A302V;ENSP00000405436:A302V;ENSP00000384660:A302V;ENSP00000250241:A302V	ENSP00000250241:A302V	A	+	2	0	ILF3	10652067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.883000	0.63128	2.652000	0.90054	0.655000	0.94253	GCT		0.468	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			11	51	0	0	0	1	0	11	51				
CD163	9332	broad.mit.edu	37	12	7635315	7635315	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7635315A>G	ENST00000359156.4	-	14	3373	c.3171T>C	c.(3169-3171)ctT>ctC	p.L1057L	CD163_ENST00000432237.2_Silent_p.L1057L|CD163_ENST00000541972.1_Silent_p.L1045L|CD163_ENST00000396620.3_Silent_p.L1090L|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1057					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GAACAACCCCAAGGATCCCGA	0.418																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3169-3171)ctT>ctC		CD163 molecule							122.0	126.0	124.0					12																	7635315		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635315A>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3171T>C	12.37:g.7635315A>G						CD163_ENST00000432237.2_Silent_p.L1057L|CD163_ENST00000541972.1_Silent_p.L1045L|CD163_ENST00000396620.3_Silent_p.L1090L	p.L1057L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3373	-			1057					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.3171T>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	3.713	-0.059224	0.07317	.	.	ENSG00000177575	ENST00000537626	T	0.03745	3.82	3.68	-1.75	0.08031	.	1.141700	0.06764	N	0.782290	T	0.05318	0.0141	.	.	.	0.21020	N	0.9998	.	.	.	.	.	.	T	0.46205	-0.9208	7	0.72032	D	0.01	.	6.8857	0.24199	0.3044:0.5876:0.108:0.0	.	.	.	.	S	70	ENSP00000439226:L70S	ENSP00000439226:L70S	L	-	2	0	CD163	7526582	0.001000	0.12720	0.024000	0.17045	0.048000	0.14542	-0.895000	0.04118	-0.298000	0.08921	0.379000	0.24179	TTG		0.418	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		34	46	0	0	0	1	0	34	46				
MSH3	4437	broad.mit.edu	37	5	80160761	80160761	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80160761G>T	ENST00000265081.6	+	22	3210	c.3130G>T	c.(3130-3132)Ggc>Tgc	p.G1044C		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1044					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACTGGATCCAGGTATGAAATA	0.368								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e22+1	Mismatch excision repair (MMR)	mutS homolog 3							105.0	100.0	101.0					5																	80160761		2203	4300	6503	SO:0001630	splice_region_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80160761G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.3130+1G>T	5.37:g.80160761G>T							p.G1044_splice	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	22	3210	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	1044					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Splice_Site	SNP	ENST00000265081.6	37	c.3130_splice	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837613	0.50951	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.88201	-2.35	5.66	4.77	0.60923	DNA mismatch repair protein MutS, C-terminal (2);	2.885430	0.01244	N	0.008693	D	0.93252	0.7850	L	0.57536	1.79	0.80722	D	1	D	0.56968	0.978	P	0.57371	0.819	T	0.80254	-0.1459	9	.	.	.	-3.0026	13.8455	0.63466	0.0:0.0:0.8469:0.1531	.	1044	P20585	MSH3_HUMAN	C	1044;1035	ENSP00000265081:G1044C	.	G	+	1	0	MSH3	80196517	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	6.444000	0.73452	1.353000	0.45828	0.555000	0.69702	GGC		0.368	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	Missense_Mutation	26	34	1	0	1.66031e-10	1	1.77558e-10	26	34				
PCDHA1	56147	broad.mit.edu	37	5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140166017G>A	ENST00000504120.2	+	1	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V48I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.V48I(2)	large_intestine(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(142-144)Gtt>Att									51.0	57.0	55.0					5																	140166017		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166017G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.142G>A	5.37:g.140166017G>A	ENSP00000420840:p.Val48Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I	p.V48I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	142	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.142G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.126032	0.01770	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.24538	1.85;1.85;1.85	4.53	2.0	0.26442	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43747	N	0.000523	T	0.04318	0.0119	N	0.00151	-1.98	0.22571	N	0.99897	B;B;B	0.19073	0.004;0.033;0.007	B;B;B	0.25759	0.003;0.063;0.002	T	0.43861	-0.9365	10	0.02654	T	1	.	7.1135	0.25403	0.623:0.2973:0.0796:0.0	.	48;48;48	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	48	ENSP00000420840:V48I;ENSP00000378129:V48I;ENSP00000367373:V48I	ENSP00000367373:V48I	V	+	1	0	PCDHA1	140146201	0.011000	0.17503	1.000000	0.80357	0.540000	0.34992	0.440000	0.21592	0.206000	0.20587	-0.247000	0.11927	GTT		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		21	32	0	0	0	1	0	21	32				
SH3BP4	23677	broad.mit.edu	37	2	235943706	235943706	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235943706G>T	ENST00000409212.1	+	3	567	c.60G>T	c.(58-60)gaG>gaT	p.E20D	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E20D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E20D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	20					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCAAGTCAGAGGGGACCCTGA	0.557																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(58-60)gaG>gaT		SH3-domain binding protein 4							60.0	62.0	61.0					2																	235943706		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943706G>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.60G>T	2.37:g.235943706G>T	ENSP00000386862:p.Glu20Asp					SH3BP4_ENST00000344528.4_Missense_Mutation_p.E20D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E20D	p.E20D			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	567	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	20					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.60G>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778883	0.90195	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.33438	2.75;1.41;2.75;2.75;1.56	4.91	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.34521	1.04	0.58432	D	0.999995	D;D	0.65815	0.995;0.995	D;D	0.69824	0.966;0.957	T	0.30592	-0.9973	10	0.72032	D	0.01	-47.798	11.481	0.50326	0.0907:0.0:0.9092:0.0	.	20;20	A8K594;Q9P0V3	.;SH3B4_HUMAN	D	20	ENSP00000375867:E20D;ENSP00000403251:E20D;ENSP00000386862:E20D;ENSP00000340237:E20D;ENSP00000415391:E20D	ENSP00000340237:E20D	E	+	3	2	SH3BP4	235608445	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.916000	0.63362	2.275000	0.75901	0.655000	0.94253	GAG		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			14	21	1	0	1.49906e-05	1	1.54943e-05	14	21				
ZNF134	7693	broad.mit.edu	37	19	58132278	58132278	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58132278A>G	ENST00000396161.5	+	3	1101	c.791A>G	c.(790-792)gAa>gGa	p.E264G		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AAGTGCAATGAATGTGGGAAA	0.413																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(790-792)gAa>gGa		zinc finger protein 134							73.0	79.0	77.0					19																	58132278		2197	4298	6495	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132278A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.791A>G	19.37:g.58132278A>G	ENSP00000379464:p.Glu264Gly						p.E264G	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1101	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	264					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.791A>G	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732250	0.48939	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.33865	1.39	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47248	0.1435	L	0.33668	1.02	0.09310	N	1	D	0.67145	0.996	D	0.69479	0.964	T	0.31475	-0.9942	9	0.72032	D	0.01	.	12.2628	0.54660	1.0:0.0:0.0:0.0	.	264	P52741	ZN134_HUMAN	G	331;184;264	ENSP00000379464:E264G	ENSP00000379464:E264G	E	+	2	0	ZNF134	62824090	0.000000	0.05858	0.592000	0.28758	0.980000	0.70556	1.378000	0.34328	1.798000	0.52647	0.459000	0.35465	GAA		0.413	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		16	68	0	0	0	1	0	16	68				
PRTG	283659	broad.mit.edu	37	15	55970053	55970053	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55970053C>T	ENST00000389286.4	-	8	1370	c.1323G>A	c.(1321-1323)agG>agA	p.R441R	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TATAAAGTGGCCTCTCCCAGG	0.423																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1321-1323)agG>agA		protogenin							127.0	120.0	122.0					15																	55970053		1868	4104	5972	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55970053C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1323G>A	15.37:g.55970053C>T							p.R441R	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	8	1370	-			441			Fibronectin type-III 1.			Silent	SNP	ENST00000389286.4	37	c.1323G>A	CCDS42040.1																																																																																				0.423	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		23	30	0	0	0	1	0	23	30				
ANKLE2	23141	broad.mit.edu	37	12	133324465	133324465	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133324465G>A	ENST00000357997.5	-	5	1272	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R395C|ANKLE2_ENST00000539605.1_Missense_Mutation_p.R333C	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	395					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAACGGATACGCTTCTGCAGC	0.527																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(997-999)Cgt>Tgt		ankyrin repeat and LEM domain containing 2							126.0	135.0	132.0					12																	133324465		2183	4264	6447	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324465G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1183C>T	12.37:g.133324465G>A	ENSP00000350686:p.Arg395Cys					ANKLE2_ENST00000337516.5_Missense_Mutation_p.R395C|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R395C	p.R333C			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	4	7681	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	395					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.997C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.938073	0.52972	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.55	5.55	0.83447	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71027	-0.4711	10	0.45353	T	0.12	-22.0895	19.5037	0.95106	0.0:0.0:1.0:0.0	.	395;395	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	C	333;395;395;165;41	ENSP00000446268:R333C;ENSP00000350686:R395C;ENSP00000337651:R395C;ENSP00000438515:R165C;ENSP00000445718:R41C	ENSP00000337651:R395C	R	-	1	0	ANKLE2	131834538	1.000000	0.71417	0.713000	0.30519	0.010000	0.07245	7.398000	0.79919	2.596000	0.87737	0.655000	0.94253	CGT		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			11	34	0	0	0	1	0	11	34				
DOCK1	1793	broad.mit.edu	37	10	129160405	129160405	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129160405C>T	ENST00000280333.6	+	33	3407	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1100					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACGGAGCTGCGCAAAGCCAC	0.448																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(3298-3300)Cgc>Tgc		dedicator of cytokinesis 1							57.0	57.0	57.0					10																	129160405		2100	4252	6352	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129160405C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3298C>T	10.37:g.129160405C>T	ENSP00000280333:p.Arg1100Cys						p.R1100C	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	33	3407	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1100					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3298C>T		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768224	0.69878	.	.	ENSG00000150760	ENST00000280333	T	0.74106	-0.81	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.90062	0.4157	10	0.87932	D	0	.	14.2043	0.65725	0.1499:0.8501:0.0:0.0	.	1100;1166;1100	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	C	1100	ENSP00000280333:R1100C	ENSP00000280333:R1100C	R	+	1	0	DOCK1	129050395	0.996000	0.38824	0.986000	0.45419	0.915000	0.54546	2.348000	0.44045	2.660000	0.90430	0.650000	0.86243	CGC		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		17	23	0	0	0	1	0	17	23				
PTPRB	5787	broad.mit.edu	37	12	70963632	70963632	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70963632C>T	ENST00000261266.5	-	12	2832	c.2803G>A	c.(2803-2805)Gtt>Att	p.V935I	PTPRB_ENST00000538708.1_Missense_Mutation_p.V935I|PTPRB_ENST00000550857.1_Missense_Mutation_p.V845I|PTPRB_ENST00000451516.2_Missense_Mutation_p.V845I|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1065I|PTPRB_ENST00000551525.1_Missense_Mutation_p.V1152I|PTPRB_ENST00000334414.6_Missense_Mutation_p.V1153I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	935	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAGGAATCAACGTCTCCCCCA	0.483																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3457-3459)Gtt>Att		protein tyrosine phosphatase, receptor type, B							83.0	82.0	82.0					12																	70963632		2011	4176	6187	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963632C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2803G>A	12.37:g.70963632C>T	ENSP00000261266:p.Val935Ile					PTPRB_ENST00000551525.1_Missense_Mutation_p.V1152I|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1065I|PTPRB_ENST00000550857.1_Missense_Mutation_p.V845I|PTPRB_ENST00000451516.2_Missense_Mutation_p.V845I|PTPRB_ENST00000538708.1_Missense_Mutation_p.V935I|PTPRB_ENST00000261266.5_Missense_Mutation_p.V935I	p.V1153I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		14	3501	-	Renal(347;0.236)		935			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3457G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808858	0.70797	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.3	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058738	0.64402	D	0.000002	T	0.65575	0.2704	M	0.80508	2.5	0.47621	D	0.999474	D;D;P;D;D;D;D	0.67145	0.992;0.984;0.945;0.994;0.996;0.994;0.993	P;P;D;P;P;P;P	0.63957	0.843;0.843;0.92;0.902;0.843;0.903;0.742	T	0.65651	-0.6116	10	0.22706	T	0.39	.	14.0835	0.64939	0.0:0.9273:0.0:0.0727	.	845;935;1032;1152;1153;935;1065	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	I	1153;845;1065;935;845;935;1152;1032	ENSP00000334928:V1153I;ENSP00000393028:V845I;ENSP00000448058:V1065I;ENSP00000438927:V935I;ENSP00000447302:V845I;ENSP00000261266:V935I;ENSP00000448349:V1152I;ENSP00000446982:V1032I	ENSP00000261266:V935I	V	-	1	0	PTPRB	69249899	1.000000	0.71417	0.461000	0.27105	0.787000	0.44495	4.379000	0.59575	1.365000	0.46057	0.544000	0.68410	GTT		0.483	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			20	21	0	0	0	1	0	20	21				
OLFML2A	169611	broad.mit.edu	37	9	127572213	127572213	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127572213G>A	ENST00000373580.3	+	8	1481	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R280H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	494	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTACGGCAGCGCTTCGTGGCC	0.602																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1480-1482)cGc>cAc		olfactomedin-like 2A							111.0	85.0	94.0					9																	127572213		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572213G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1481G>A	9.37:g.127572213G>A	ENSP00000362682:p.Arg494His					OLFML2A_ENST00000288815.5_Missense_Mutation_p.R280H	p.R494H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1481	+			494			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1481G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	36	5.686248	0.96784	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89617	1.51;-2.54	6.07	6.07	0.98685	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94016	0.8083	M	0.81112	2.525	0.80722	D	1	D;D	0.56035	0.972;0.974	P;P	0.58013	0.755;0.831	D	0.94002	0.7276	10	0.87932	D	0	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	280;494	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	186;494;280	ENSP00000362682:R494H;ENSP00000288815:R280H	ENSP00000288815:R280H	R	+	2	0	OLFML2A	126612034	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.004000	0.88535	2.884000	0.98904	0.655000	0.94253	CGC		0.602	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	16	0	0	0	1	0	9	16				
JAG1	182	broad.mit.edu	37	20	10628675	10628675	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:10628675G>A	ENST00000254958.5	-	13	2168	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	JAG1_ENST00000423891.2_Silent_p.C392C|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	551	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGTCCTCGGGGCACTTGCAGA	0.562									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1651-1653)tgC>tgT		jagged 1							154.0	132.0	140.0					20																	10628675		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10628675G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1653C>T	20.37:g.10628675G>A						JAG1_ENST00000423891.2_Silent_p.C392C	p.C551C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			13	2168	-			551			EGF-like 9.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.1653C>T	CCDS13112.1																																																																																				0.562	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		16	26	0	0	0	1	0	16	26				
CPA2	1358	broad.mit.edu	37	7	129929484	129929484	+	Missense_Mutation	SNP	G	G	A	rs146602328	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129929484G>A	ENST00000222481.4	+	11	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	386					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GACACAGGGCGCTACGGCTTC	0.542													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.0					ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1156-1158)cGc>cAc		carboxypeptidase A2 (pancreatic)		G	HIS/ARG	27,4379	33.5+/-64.1	0,27,2176	136.0	119.0	124.0		1157	0.1	0.0	7	dbSNP_134	124	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPA2	NM_001869.2	29	0,29,6474	AA,AG,GG		0.0233,0.6128,0.223	benign	386/420	129929484	29,12977	2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929484G>A	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1157G>A	7.37:g.129929484G>A	ENSP00000222481:p.Arg386His						p.R386H	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			11	1212	+	Melanoma(18;0.0435)		386					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1157G>A	CCDS5817.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.33	1.606654	0.28623	0.006128	2.33E-4	ENSG00000158516	ENST00000222481	T	0.11063	2.81	5.13	0.0599	0.14334	Peptidase M14, carboxypeptidase A (2);	0.952399	0.08703	N	0.906084	T	0.07098	0.0180	L	0.53561	1.675	0.31627	N	0.649525	B	0.12630	0.006	B	0.11329	0.006	T	0.28870	-1.0030	10	0.32370	T	0.25	.	4.8562	0.13561	0.2129:0.0:0.5308:0.2563	.	386	P48052	CBPA2_HUMAN	H	386	ENSP00000222481:R386H	ENSP00000222481:R386H	R	+	2	0	CPA2	129716720	0.002000	0.14202	0.003000	0.11579	0.614000	0.37383	0.649000	0.24843	-0.304000	0.08843	0.561000	0.74099	CGC		0.542	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		17	38	0	0	0	1	0	17	38				
PCDHGA5	56110	broad.mit.edu	37	5	140744944	140744944	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140744944C>T	ENST00000518069.1	+	1	1047	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	349	Cadherin 4. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGATCCTCACCTCTCTGA	0.512																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1045-1047)ctC>ctT									100.0	103.0	102.0					5																	140744944		2102	4249	6351	SO:0001819	synonymous_variant	0							g.chr5:140744944C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1047C>T	5.37:g.140744944C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L349L	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1047	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1047C>T	CCDS54925.1																																																																																				0.512	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		13	19	0	0	0	1	0	13	19				
SFMBT2	57713	broad.mit.edu	37	10	7239528	7239528	+	Silent	SNP	G	G	A	rs537093264		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7239528G>A	ENST00000361972.4	-	15	1770	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	SFMBT2_ENST00000397167.1_Silent_p.C560C	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	560					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGCACGCATTTGCCCG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.0					ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1678-1680)tgC>tgT		Scm-like with four mbt domains 2							115.0	109.0	111.0					10																	7239528		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239528G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1680C>T	10.37:g.7239528G>A						SFMBT2_ENST00000397167.1_Silent_p.C560C	p.C560C	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			15	1770	-			560					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1680C>T	CCDS31138.1																																																																																				0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	66	0	0	0	1	0	6	66				
DTNA	1837	broad.mit.edu	37	18	32400839	32400839	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:32400839C>T	ENST00000399113.3	+	8	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S	DTNA_ENST00000399121.5_Missense_Mutation_p.P321S|DTNA_ENST00000283365.9_Missense_Mutation_p.P321S|DTNA_ENST00000597674.1_Missense_Mutation_p.P3S|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000591182.1_Missense_Mutation_p.P3S|DTNA_ENST00000598334.1_Missense_Mutation_p.P321S|DTNA_ENST00000598142.1_Missense_Mutation_p.P321S|DTNA_ENST00000599844.1_Missense_Mutation_p.P3S|DTNA_ENST00000444659.1_Missense_Mutation_p.P321S|DTNA_ENST00000269191.6_Missense_Mutation_p.P321S|DTNA_ENST00000601125.1_Missense_Mutation_p.P3S|DTNA_ENST00000597599.1_Missense_Mutation_p.P321S|DTNA_ENST00000269190.7_Missense_Mutation_p.P321S|DTNA_ENST00000315456.6_Missense_Mutation_p.P321S|DTNA_ENST00000348997.5_Missense_Mutation_p.P321S|DTNA_ENST00000556414.3_Missense_Mutation_p.P3S|DTNA_ENST00000269192.7_Missense_Mutation_p.P3S|DTNA_ENST00000399097.3_Missense_Mutation_p.P3S|DTNA_ENST00000554864.3_Missense_Mutation_p.P321S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.P321S|DTNA_ENST00000595022.1_Missense_Mutation_p.P321S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	321					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCCATGTTCCCAGATCAGCC	0.493																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(961-963)Cca>Tca		dystrobrevin, alpha							95.0	80.0	85.0					18																	32400839		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32400839C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.961C>T	18.37:g.32400839C>T	ENSP00000382064:p.Pro321Ser					DTNA_ENST00000348997.5_Missense_Mutation_p.P321S|DTNA_ENST00000399113.3_Missense_Mutation_p.P321S|DTNA_ENST00000399097.3_Missense_Mutation_p.P3S|DTNA_ENST00000444659.1_Missense_Mutation_p.P321S|DTNA_ENST00000556414.3_Missense_Mutation_p.P3S|DTNA_ENST00000595022.1_Missense_Mutation_p.P321S|DTNA_ENST00000598774.1_Missense_Mutation_p.P321S|DTNA_ENST00000269192.7_Missense_Mutation_p.P3S|DTNA_ENST00000554864.3_Missense_Mutation_p.P321S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.P321S|DTNA_ENST00000269190.7_Missense_Mutation_p.P321S|DTNA_ENST00000591182.1_Missense_Mutation_p.P3S|DTNA_ENST00000598142.1_Missense_Mutation_p.P321S|DTNA_ENST00000597674.1_Missense_Mutation_p.P3S|DTNA_ENST00000269191.6_Missense_Mutation_p.P321S|DTNA_ENST00000598334.1_Missense_Mutation_p.P321S|DTNA_ENST00000601125.1_Missense_Mutation_p.P3S|DTNA_ENST00000599844.1_Missense_Mutation_p.P3S|DTNA_ENST00000597599.1_Missense_Mutation_p.P321S|DTNA_ENST00000399121.5_Missense_Mutation_p.P321S	p.P321S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			10	1312	+			321					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.961C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719587	0.89205	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T;T	0.27557	2.08;1.74;1.66;2.06;2.08;1.85;1.75;1.85	5.66	5.66	0.87406	.	0.056074	0.64402	D	0.000001	T	0.53142	0.1778	L	0.49640	1.575	0.52099	D	0.999942	D;D;D;D;B;B;B;D;D;B;P;D;P;P;B;B	0.89917	1.0;0.969;0.999;1.0;0.189;0.123;0.144;0.982;0.998;0.123;0.753;0.969;0.494;0.828;0.035;0.378	D;P;D;D;B;B;B;P;D;B;P;P;B;P;B;B	0.91635	0.999;0.868;0.993;0.999;0.222;0.169;0.117;0.858;0.997;0.169;0.607;0.725;0.176;0.612;0.013;0.169	T	0.47535	-0.9110	10	0.56958	D	0.05	-13.898	20.1047	0.97888	0.0:1.0:0.0:0.0	.	3;3;71;3;321;321;321;321;3;321;321;332;321;321;321;321	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	S	321;321;321;321;321;321;3;321;321;321;321;321;3;3;3	ENSP00000283365:P321S;ENSP00000322519:P321S;ENSP00000269190:P321S;ENSP00000336682:P321S;ENSP00000382072:P321S;ENSP00000405819:P321S;ENSP00000269191:P321S;ENSP00000382064:P321S	ENSP00000269190:P321S	P	+	1	0	DTNA	30654837	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.808000	0.69165	2.819000	0.97034	0.585000	0.79938	CCA		0.493	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		26	35	0	0	0	1	0	26	35				
SELL	6402	broad.mit.edu	37	1	169677595	169677595	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169677595G>A	ENST00000236147.4	-	3	634	c.474C>T	c.(472-474)gaC>gaT	p.D158D	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	145	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGTGGCAGGCGTCATCGTTCC	0.502																																						ENST00000236147.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15						c.(472-474)gaC>gaT		selectin L							86.0	86.0	86.0					1																	169677595		2005	4173	6178	SO:0001819	synonymous_variant	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169677595G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.474C>T	1.37:g.169677595G>A						C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	p.D158D	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN			3	634	-	all_hematologic(923;0.208)		145			EGF-like.		B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	c.474C>T	CCDS53427.1																																																																																				0.502	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		29	31	0	0	0	1	0	29	31				
NSD1	64324	broad.mit.edu	37	5	176720970	176720970	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176720970T>C	ENST00000439151.2	+	23	6646	c.6601T>C	c.(6601-6603)Tct>Cct	p.S2201P	NSD1_ENST00000347982.4_Missense_Mutation_p.S1932P|NSD1_ENST00000361032.4_Missense_Mutation_p.S2098P|NSD1_ENST00000354179.4_Missense_Mutation_p.S1932P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGCGTCTGTCTTGTACTGA	0.572			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6601-6603)Tct>Cct		nuclear receptor binding SET domain protein 1							95.0	93.0	94.0					5																	176720970		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176720970T>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6601T>C	5.37:g.176720970T>C	ENSP00000395929:p.Ser2201Pro	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.S2098P|NSD1_ENST00000354179.4_Missense_Mutation_p.S1932P|NSD1_ENST00000347982.4_Missense_Mutation_p.S1932P	p.S2201P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	6646	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2201					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6601T>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774712	0.70107	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.17	6.17	0.99709	.	0.190360	0.38381	N	0.001704	D	0.86912	0.6047	L	0.60455	1.87	0.47862	D	0.999539	D;D	0.71674	0.998;0.988	D;D	0.77004	0.989;0.943	D	0.86296	0.1677	10	0.42905	T	0.14	.	12.9919	0.58625	0.1208:0.0:0.0:0.8792	.	1932;2201	Q96L73-2;Q96L73	.;NSD1_HUMAN	P	1932;2201;1932;2098	ENSP00000346111:S1932P;ENSP00000395929:S2201P;ENSP00000343209:S1932P;ENSP00000354310:S2098P	ENSP00000343209:S1932P	S	+	1	0	NSD1	176653576	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.057000	0.57455	2.371000	0.80710	0.533000	0.62120	TCT		0.572	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		7	43	0	0	0	1	0	7	43				
SEC16B	89866	broad.mit.edu	37	1	177902750	177902750	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177902750G>T	ENST00000308284.6	-	21	2682	c.2593C>A	c.(2593-2595)Cga>Aga	p.R865R	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	865					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAAATACTTCGTGGTCTAGCA	0.468																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2593-2595)Cga>Aga		SEC16 homolog B (S. cerevisiae)							57.0	57.0	57.0					1																	177902750		1918	4133	6051	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177902750G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2593C>A	1.37:g.177902750G>T						RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR	p.R865R	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			21	2682	-			865					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2593C>A	CCDS44281.1																																																																																				0.468	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		14	30	1	0	6.31663e-08	1	6.64488e-08	14	30				
FAM117B	150864	broad.mit.edu	37	2	203624073	203624073	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203624073G>A	ENST00000392238.2	+	7	1448	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	FAM117B_ENST00000303116.6_Missense_Mutation_p.C239Y			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TTTGAGGAATGCTCGTAAGTA	0.423																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(715-717)tGc>tAc		family with sequence similarity 117, member B							88.0	83.0	84.0					2																	203624073		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203624073G>A	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1448G>A	2.37:g.203624073G>A	ENSP00000376071:p.Cys483Tyr					FAM117B_ENST00000392238.2_Missense_Mutation_p.C483Y	p.C239Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			7	1458	+			483					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.716G>A	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076538	0.36662	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.43	5.43	0.79202	.	0.311163	0.39985	N	0.001218	T	0.24005	0.0581	N	0.08118	0	0.32876	D	0.509876	P	0.44578	0.838	B	0.40165	0.321	T	0.17501	-1.0367	9	0.19590	T	0.45	-9.8507	14.7849	0.69796	0.0714:0.0:0.9286:0.0	.	483	Q6P1L5	F117B_HUMAN	Y	239;483	.	ENSP00000306299:C239Y	C	+	2	0	FAM117B	203332318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.819000	0.55686	2.720000	0.93068	0.591000	0.81541	TGC		0.423	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		15	33	0	0	0	1	0	15	33				
CFAP43	80217	broad.mit.edu	37	10	105923981	105923981	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105923981T>C	ENST00000357060.3	-	24	3232	c.3117A>G	c.(3115-3117)gcA>gcG	p.A1039A	WDR96_ENST00000428666.1_Silent_p.A1040A	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTTCACGCGTGCAATTTCAA	0.343																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3115-3117)gcA>gcG		WD repeat domain 96							102.0	87.0	92.0					10																	105923981		2203	4299	6502	SO:0001819	synonymous_variant	80217							g.chr10:105923981T>C																												ENST00000357060.3:c.3117A>G	10.37:g.105923981T>C						WDR96_ENST00000428666.1_Silent_p.A1040A	p.A1039A	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			24	3232	-			1039						Silent	SNP	ENST00000357060.3	37	c.3117A>G	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	4.522	0.096933	0.08681	.	.	ENSG00000197748	ENST00000434629	.	.	.	6.06	-2.66	0.06077	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	.	0.7972	0.01068	0.3232:0.1197:0.2038:0.3533	.	.	.	.	R	400	.	.	H	-	2	0	WDR96	105913971	0.101000	0.21875	0.402000	0.26371	0.421000	0.31385	-0.074000	0.11450	-0.743000	0.04784	-0.323000	0.08544	CAC		0.343	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	29	0	0	0	1	0	5	29				
MYO9A	4649	broad.mit.edu	37	15	72338876	72338876	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72338876C>T	ENST00000356056.5	-	2	501	c.29G>A	c.(28-30)cGc>cAc	p.R10H	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R10H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R10H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R10H|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	10					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCTTCAAAGCGTCGTCTTCC	0.398																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(28-30)cGc>cAc		myosin IXA							144.0	144.0	144.0					15																	72338876		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338876C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.29G>A	15.37:g.72338876C>T	ENSP00000348349:p.Arg10His					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R10H|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.R10H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R10H	p.R10H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	501	-			10					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.29G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.682187	0.88542	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86297	-2.09;-2.1;-2.08	5.01	5.01	0.66863	.	.	.	.	.	D	0.92485	0.7614	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.993;0.997;0.999	P;D;D	0.68943	0.855;0.933;0.961	D	0.93189	0.6581	9	0.66056	D	0.02	.	17.9925	0.89172	0.0:1.0:0.0:0.0	.	10;10;10	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	10	ENSP00000348349:R10H;ENSP00000399162:R10H;ENSP00000398250:R10H	ENSP00000261864:R10H	R	-	2	0	MYO9A	70125930	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.741000	0.84997	2.328000	0.79073	0.454000	0.30748	CGC		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		38	59	0	0	0	1	0	38	59				
TMPRSS9	360200	broad.mit.edu	37	19	2408424	2408424	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2408424G>A	ENST00000332578.3	+	7	811	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	271	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGCACCGTGCGGGCCCA	0.647																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(811-813)Gtg>Atg		transmembrane protease, serine 9							79.0	70.0	73.0					19																	2408424		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408424G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.811G>A	19.37:g.2408424G>A	ENSP00000330264:p.Val271Met						p.V271M	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	811	+			271			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.811G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812128	0.32053	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88664	-2.41	4.67	3.63	0.41609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41938	U	0.000790	D	0.91033	0.7179	L	0.45744	1.44	0.35817	D	0.824291	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.91168	0.4966	10	0.33141	T	0.24	.	11.3001	0.49300	0.0916:0.0:0.9084:0.0	.	271;305	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	305;271	ENSP00000330264:V271M	ENSP00000330264:V271M	V	+	1	0	TMPRSS9	2359424	1.000000	0.71417	0.045000	0.18777	0.140000	0.21249	3.649000	0.54417	0.966000	0.38159	0.491000	0.48974	GTG		0.647	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		19	33	0	0	0	1	0	19	33				
CD36	948	broad.mit.edu	37	7	80292376	80292376	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:80292376C>T	ENST00000435819.1	+	9	1184	c.500C>T	c.(499-501)tCt>tTt	p.S167F	CD36_ENST00000433696.2_Missense_Mutation_p.S167F|CD36_ENST00000394788.3_Missense_Mutation_p.S167F|CD36_ENST00000534394.1_Missense_Mutation_p.S91F|CD36_ENST00000432207.1_Missense_Mutation_p.S167F|CD36_ENST00000544133.1_Missense_Mutation_p.S167F|CD36_ENST00000309881.7_Missense_Mutation_p.S167F|CD36_ENST00000538969.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.S167F			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	167					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCAAAATCTTCTATGTTC	0.368																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(499-501)tCt>tTt		CD36 molecule (thrombospondin receptor)							150.0	143.0	145.0					7																	80292376		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80292376C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.500C>T	7.37:g.80292376C>T	ENSP00000399421:p.Ser167Phe					CD36_ENST00000538969.1_Intron|CD36_ENST00000433696.2_Missense_Mutation_p.S167F|CD36_ENST00000447544.2_Missense_Mutation_p.S167F|CD36_ENST00000309881.7_Missense_Mutation_p.S167F|CD36_ENST00000432207.1_Missense_Mutation_p.S167F|CD36_ENST00000534394.1_Missense_Mutation_p.S91F|CD36_ENST00000544133.1_Missense_Mutation_p.S167F|CD36_ENST00000394788.3_Missense_Mutation_p.S167F	p.S167F			P16671	CD36_HUMAN			9	1184	+			167					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.500C>T	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560849	0.86335	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.06	5.06	0.68205	.	0.159405	0.53938	D	0.000053	D	0.87006	0.6070	M	0.86028	2.79	0.58432	D	0.999999	D	0.57257	0.979	D	0.65140	0.932	D	0.88400	0.3014	9	.	.	.	-26.2671	18.0879	0.89463	0.0:1.0:0.0:0.0	.	167	P16671	CD36_HUMAN	F	167;167;91;167;167;167;167;167;167;167	ENSP00000399421:S167F;ENSP00000308165:S167F;ENSP00000431296:S91F;ENSP00000378268:S167F;ENSP00000415743:S167F;ENSP00000411411:S167F;ENSP00000407690:S167F;ENSP00000392298:S167F;ENSP00000441956:S167F;ENSP00000401863:S167F	.	S	+	2	0	CD36	80130312	0.994000	0.37717	0.999000	0.59377	0.984000	0.73092	3.436000	0.52856	2.349000	0.79799	0.644000	0.83932	TCT		0.368	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		42	57	0	0	0	1	0	42	57				
OR4K14	122740	broad.mit.edu	37	14	20482668	20482668	+	Missense_Mutation	SNP	G	G	A	rs532165188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20482668G>A	ENST00000305045.2	-	1	684	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCGGCAGCACGCTGTCTGATA	0.498																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(685-687)Cgt>Tgt		olfactory receptor, family 4, subfamily K, member 14							93.0	76.0	82.0					14																	20482668		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482668G>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.685C>T	14.37:g.20482668G>A	ENSP00000305011:p.Arg229Cys						p.R229C	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	684	-	all_cancers(95;0.00108)		229					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.685C>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.339712	0.24339	.	.	ENSG00000169484	ENST00000305045	T	0.00107	8.72	4.04	0.776	0.18532	GPCR, rhodopsin-like superfamily (1);	0.876756	0.09606	N	0.779598	T	0.00271	0.0008	L	0.41824	1.3	0.09310	N	1	D	0.69078	0.997	D	0.65140	0.932	T	0.56637	-0.7946	10	0.87932	D	0	.	8.2524	0.31735	0.0:0.1386:0.4371:0.4243	.	229	Q8NGD5	OR4KE_HUMAN	C	229	ENSP00000305011:R229C	ENSP00000305011:R229C	R	-	1	0	OR4K14	19552508	0.000000	0.05858	0.002000	0.10522	0.339000	0.28857	0.051000	0.14141	0.310000	0.22990	0.505000	0.49811	CGT		0.498	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			5	16	0	0	0	1	0	5	16				
TMEM134	80194	broad.mit.edu	37	11	67235040	67235040	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67235040G>A	ENST00000308022.2	-	3	302	c.261C>T	c.(259-261)atC>atT	p.I87I	TMEM134_ENST00000393877.3_Silent_p.I87I|TMEM134_ENST00000541059.1_5'Flank|TMEM134_ENST00000452789.2_Intron	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	87						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGGAGCTGCGGATGGAAGTTC	0.647																																						ENST00000393877.3																			0				endometrium(1)|lung(1)	2						c.(259-261)atC>atT		transmembrane protein 134							56.0	52.0	53.0					11																	67235040		2200	4295	6495	SO:0001819	synonymous_variant	80194					integral to membrane		g.chr11:67235040G>A	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.261C>T	11.37:g.67235040G>A						TMEM134_ENST00000308022.2_Silent_p.I87I|TMEM134_ENST00000452789.2_Intron	p.I87I	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN			3	318	-			87					Q08AK4|Q6PJN3	Silent	SNP	ENST00000308022.2	37	c.261C>T	CCDS8167.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391804	0.25118	.	.	ENSG00000172663	ENST00000544903	.	.	.	4.47	3.51	0.40186	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.25550	N	0.987097	D	0.58620	0.983	P	0.50708	0.648	T	0.37842	-0.9688	7	0.87932	D	0	.	10.0888	0.42434	0.0:0.2055:0.7945:0.0	.	91	G3V1M5	.	F	91	.	ENSP00000441975:S91F	S	-	2	0	TMEM134	66991616	1.000000	0.71417	0.889000	0.34880	0.347000	0.29111	0.787000	0.26858	0.823000	0.34589	0.289000	0.19496	TCC		0.647	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		14	31	0	0	0	1	0	14	31				
GPER1	2852	broad.mit.edu	37	7	1131389	1131389	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1131389G>A	ENST00000297469.3	+	2	716	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.G9S|GPER1_ENST00000397092.1_Missense_Mutation_p.G9S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.G9S|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	9					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCAAGCCCGGGGCGTGGGCCT	0.612																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(25-27)Ggc>Agc									54.0	60.0	58.0					7																	1131389		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131389G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.25G>A	7.37:g.1131389G>A	ENSP00000297469:p.Gly9Ser					GPER_ENST00000397088.3_Missense_Mutation_p.G9S|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.G9S|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.G9S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron	p.G9S	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	909	+		Ovarian(82;0.0253)	9					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.25G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	4.057	0.008409	0.07912	.	.	ENSG00000164850	ENST00000401670;ENST00000413368;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T;T	0.66099	-0.19;1.02;-0.19;-0.19;-0.19	4.44	-0.595	0.11660	.	2.152390	0.02111	N	0.054798	T	0.33118	0.0852	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25117	-1.0141	10	0.08179	T	0.78	.	3.5821	0.07957	0.3027:0.0:0.4547:0.2426	.	9	Q99527	GPER_HUMAN	S	9	ENSP00000385151:G9S;ENSP00000410487:G9S;ENSP00000380281:G9S;ENSP00000297469:G9S;ENSP00000380277:G9S	ENSP00000297469:G9S	G	+	1	0	GPER	1097915	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.333000	0.07894	-0.116000	0.11893	0.655000	0.94253	GGC		0.612	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		19	42	0	0	0	1	0	19	42				
POSTN	10631	broad.mit.edu	37	13	38154121	38154121	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38154121G>T	ENST00000379747.4	-	12	1654	c.1537C>A	c.(1537-1539)Ctc>Atc	p.L513I	POSTN_ENST00000541179.1_Missense_Mutation_p.L513I|POSTN_ENST00000379742.4_Missense_Mutation_p.L513I|POSTN_ENST00000541481.1_Missense_Mutation_p.L513I|POSTN_ENST00000379749.4_Missense_Mutation_p.L513I|POSTN_ENST00000379743.4_Missense_Mutation_p.L513I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	513	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGTAGGCTGAGGAAGGTGCTA	0.398																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1537-1539)Ctc>Atc		periostin, osteoblast specific factor							157.0	140.0	146.0					13																	38154121		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154121G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1537C>A	13.37:g.38154121G>T	ENSP00000369071:p.Leu513Ile					POSTN_ENST00000379742.4_Missense_Mutation_p.L513I|POSTN_ENST00000541481.1_Missense_Mutation_p.L513I|POSTN_ENST00000379743.4_Missense_Mutation_p.L513I|POSTN_ENST00000379749.4_Missense_Mutation_p.L513I|POSTN_ENST00000541179.1_Missense_Mutation_p.L513I	p.L513I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	12	1654	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	513			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1537C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334653	0.60853	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.32	5.32	0.75619	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	L	0.52905	1.665	0.53688	D	0.999975	D;D;D;D;D;P;D	0.89917	0.999;0.998;1.0;0.999;0.992;0.537;1.0	D;D;D;D;D;B;D	0.91635	0.997;0.995;0.999;0.995;0.986;0.343;0.999	D	0.94016	0.7288	10	0.39692	T	0.17	-13.3697	19.3495	0.94378	0.0:0.0:1.0:0.0	.	513;513;513;513;513;513;513	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	I	513	ENSP00000437959:L513I;ENSP00000369073:L513I;ENSP00000369071:L513I;ENSP00000369067:L513I;ENSP00000369066:L513I;ENSP00000437953:L513I	ENSP00000369066:L513I	L	-	1	0	POSTN	37052121	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	3.504000	0.53347	2.644000	0.89710	0.591000	0.81541	CTC		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		34	48	1	0	8.16277e-20	1	9.0371e-20	34	48				
NRG1	3084	broad.mit.edu	37	8	32505513	32505513	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:32505513G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.A93T|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000523079.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCTGCATCGCCGGCCTCAA	0.537																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(277-279)Gcc>Acc		neuregulin 1							111.0	113.0	112.0					8																	32505513		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505513G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31110G>A	8.37:g.32505513G>A						NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron	p.A93T	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	277	+		Breast(100;0.203)	0			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.277G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531917	0.85706	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	T	0.73305	0.3570	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73582	-0.3937	8	0.62326	D	0.03	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	93;93	Q53F54;Q02297-10	.;.	T	93;53	.	ENSP00000433289:A93T	A	+	1	0	NRG1	32625055	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.320000	0.96346	2.838000	0.97847	0.655000	0.94253	GCC		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			39	58	0	0	0	1	0	39	58				
CCDC66	285331	broad.mit.edu	37	3	56647708	56647708	+	Missense_Mutation	SNP	G	G	A	rs370201168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:56647708G>A	ENST00000394672.3	+	11	1566	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	CCDC66_ENST00000436465.2_Missense_Mutation_p.R499H|CCDC66_ENST00000326595.7_Missense_Mutation_p.R465H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	499					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAGGAGCTTCGCTTAGCACAG	0.408																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1495-1497)cGc>cAc		coiled-coil domain containing 66		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	174.0	165.0	168.0		1394,1496	3.7	0.4	3		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCDC66	NM_001012506.4,NM_001141947.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	465/915,499/949	56647708	1,13005	2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647708G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1496G>A	3.37:g.56647708G>A	ENSP00000378167:p.Arg499His					CCDC66_ENST00000326595.7_Missense_Mutation_p.R465H|CCDC66_ENST00000436465.2_Missense_Mutation_p.R499H	p.R499H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1566	+			499					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1496G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778085	0.70107	0.0	1.16E-4	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.49	3.71	0.42584	.	0.187056	0.44902	D	0.000415	T	0.56411	0.1983	M	0.76328	2.33	0.52501	D	0.999957	P	0.36412	0.552	B	0.26202	0.067	T	0.59247	-0.7490	10	0.87932	D	0	-1.5516	10.1539	0.42812	0.1537:0.0:0.8463:0.0	.	499	A2RUB6	CCD66_HUMAN	H	455;499;465;499	ENSP00000401451:R455H;ENSP00000378167:R499H;ENSP00000326050:R465H;ENSP00000404320:R499H	ENSP00000326050:R465H	R	+	2	0	CCDC66	56622748	0.984000	0.35163	0.401000	0.26359	0.943000	0.58893	5.250000	0.65432	0.698000	0.31739	0.484000	0.47621	CGC		0.408	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		19	33	0	0	0	1	0	19	33				
USP14	9097	broad.mit.edu	37	18	179030	179030	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:179030C>T	ENST00000261601.7	+	4	384	c.293C>T	c.(292-294)gCa>gTa	p.A98V	USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.A87V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	98					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GAACAGTTAGCATCTGCTGTA	0.408																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(292-294)gCa>gTa		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							64.0	55.0	58.0					18																	179030		2203	4299	6502	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:179030C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.293C>T	18.37:g.179030C>T	ENSP00000261601:p.Ala98Val					USP14_ENST00000582707.1_Intron|USP14_ENST00000383589.2_Intron|USP14_ENST00000400266.3_Missense_Mutation_p.A87V	p.A98V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			4	384	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	98					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.293C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152516	0.78001	.	.	ENSG00000101557	ENST00000261601;ENST00000400266	T;T	0.34667	1.35;1.35	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.41961	1.31	0.80722	D	1	B;B	0.32101	0.0;0.356	B;B	0.32533	0.0;0.147	T	0.06481	-1.0824	10	0.42905	T	0.14	.	20.1492	0.98083	0.0:1.0:0.0:0.0	.	87;98	B7Z4N8;P54578	.;UBP14_HUMAN	V	98;87	ENSP00000261601:A98V;ENSP00000383125:A87V	ENSP00000261601:A98V	A	+	2	0	USP14	169030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.129000	0.77225	2.864000	0.98301	0.551000	0.68910	GCA		0.408	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		27	32	0	0	0	1	0	27	32				
GIMAP6	474344	broad.mit.edu	37	7	150324914	150324914	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150324914C>A	ENST00000328902.5	-	3	988	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	258						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCAGAGCCTTGGCCCTGG	0.517																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(772-774)Ggc>Tgc		GTPase, IMAP family member 6							138.0	113.0	121.0					7																	150324914		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324914C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.772G>T	7.37:g.150324914C>A	ENSP00000330374:p.Gly258Cys					GIMAP6_ENST00000493969.1_3'UTR	p.G258C	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	988	-			258					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.772G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665683	0.47677	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06294	3.32	4.17	2.33	0.28932	.	0.590909	0.15353	N	0.266862	T	0.10637	0.0260	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	0.995;1.0	P;D	0.67382	0.662;0.951	T	0.17018	-1.0383	10	0.54805	T	0.06	.	5.5203	0.16929	0.0:0.685:0.2031:0.1119	.	258;178	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	C	258;319	ENSP00000330374:G258C	ENSP00000330374:G258C	G	-	1	0	GIMAP6	149955847	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.271000	0.18626	0.400000	0.25396	0.655000	0.94253	GGC		0.517	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		30	51	1	0	9.78306e-22	1	1.08721e-21	30	51				
PIP4K2B	8396	broad.mit.edu	37	17	36927471	36927471	+	Missense_Mutation	SNP	C	C	T	rs142813296		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36927471C>T	ENST00000269554.3	-	8	1342	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	288	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GCCCGGTCCACGTCGTGGATG	0.572																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(862-864)Gtg>Atg		phosphatidylinositol-5-phosphate 4-kinase, type II, beta		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	131.0	100.0	110.0		862	5.3	1.0	17	dbSNP_134	110	0,8600		0,0,4300	yes	missense	PIP4K2B	NM_003559.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	288/417	36927471	1,13005	2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36927471C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.862G>A	17.37:g.36927471C>T	ENSP00000269554:p.Val288Met						p.V288M	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			8	1342	-			288			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.862G>A	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998621	0.74818	2.27E-4	0.0	ENSG00000141720	ENST00000269554	T	0.31769	1.48	5.29	5.29	0.74685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.065191	0.64402	D	0.000007	T	0.36908	0.0984	L	0.58583	1.82	0.80722	D	1	P	0.38020	0.615	B	0.40199	0.322	T	0.12915	-1.0529	10	0.46703	T	0.11	-19.807	17.7431	0.88412	0.0:1.0:0.0:0.0	.	288	P78356	PI42B_HUMAN	M	288	ENSP00000269554:V288M	ENSP00000269554:V288M	V	-	1	0	PIP4K2B	34180997	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	7.320000	0.79064	2.776000	0.95493	0.644000	0.83932	GTG		0.572	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		4	21	0	0	0	1	0	4	21				
CHD4	1108	broad.mit.edu	37	12	6710187	6710187	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6710187G>T	ENST00000357008.2	-	7	995	c.832C>A	c.(832-834)Cct>Act	p.P278T	CHD4_ENST00000544040.1_Missense_Mutation_p.P271T|CHD4_ENST00000544484.1_Missense_Mutation_p.P275T|CHD4_ENST00000309577.6_Missense_Mutation_p.P278T	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	278					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTACACGAGGGCTGCCCTTG	0.473																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(832-834)Cct>Act		chromodomain helicase DNA binding protein 4							182.0	184.0	183.0					12																	6710187		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710187G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.832C>A	12.37:g.6710187G>T	ENSP00000349508:p.Pro278Thr					CHD4_ENST00000544484.1_Missense_Mutation_p.P275T|CHD4_ENST00000544040.1_Missense_Mutation_p.P271T|CHD4_ENST00000357008.2_Missense_Mutation_p.P278T	p.P278T			Q14839	CHD4_HUMAN			7	995	-			278					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.832C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408943	0.42715	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90385	-2.63;-2.66;-2.64;-2.65;0.61	4.8	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	M	0.63428	1.95	0.42886	D	0.994183	P;B;B	0.38677	0.642;0.306;0.001	B;B;B	0.35278	0.199;0.169;0.003	D	0.87102	0.2179	10	0.41790	T	0.15	6.1616	12.1559	0.54077	0.0835:0.0:0.9165:0.0	.	278;278;271	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	T	275;271;278;278;252;278	ENSP00000440392:P275T;ENSP00000440542:P271T;ENSP00000312419:P278T;ENSP00000349508:P278T;ENSP00000437506:P278T	ENSP00000312419:P278T	P	-	1	0	CHD4	6580448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.861000	0.62969	2.637000	0.89404	0.561000	0.74099	CCT		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		62	99	1	0	5.01655e-19	1	5.54669e-19	62	99				
LRP1B	53353	broad.mit.edu	37	2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3424-3426)cCt>cAt		low density lipoprotein receptor-related protein 1B							191.0	164.0	173.0					2																	141665541		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665541G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3425C>A	2.37:g.141665541G>T	ENSP00000374135:p.Pro1142His	TSP Lung(27;0.18)					p.P1142H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4396	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1142			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3425C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992571	0.74703	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99051	-5.37;-3.66	5.58	5.58	0.84498	.	0.144833	0.46758	D	0.000269	D	0.98826	0.9604	L	0.39514	1.22	0.58432	D	0.999998	D;D	0.89917	0.99;1.0	D;D	0.76071	0.957;0.987	D	0.99878	1.1107	10	0.44086	T	0.13	.	19.5654	0.95390	0.0:0.0:1.0:0.0	.	325;1142	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1142;1080;287	ENSP00000374135:P1142H;ENSP00000413239:P287H	ENSP00000374135:P1142H	P	-	2	0	LRP1B	141382011	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.894000	0.87336	2.641000	0.89580	0.585000	0.79938	CCT		0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		29	34	1	0	2.4375e-19	1	2.69654e-19	29	34				
SRP14	6727	broad.mit.edu	37	15	40328545	40328545	+	Missense_Mutation	SNP	C	C	T	rs551276514	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40328545C>T	ENST00000267884.6	-	5	471	c.400G>A	c.(400-402)Gca>Aca	p.A134T	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_Missense_Mutation_p.A54T|SRP14_ENST00000558720.1_Missense_Mutation_p.A54T	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	134	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TACTGtgctgctgttgctgct	0.488													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20122	0.0		0.0	False		,,,				2504	0.001					ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(400-402)Gca>Aca		signal recognition particle 14kDa (homologous Alu RNA binding protein)							90.0	85.0	87.0					15																	40328545		2203	4300	6503	SO:0001583	missense	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328545C>T		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.400G>A	15.37:g.40328545C>T	ENSP00000267884:p.Ala134Thr					SRP14_ENST00000560773.1_Missense_Mutation_p.A54T|SRP14_ENST00000558720.1_Missense_Mutation_p.A54T|SRP14_ENST00000558527.1_5'UTR	p.A134T	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	471	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	134			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	Missense_Mutation	SNP	ENST00000267884.6	37	c.400G>A	CCDS42017.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396740	0.42512	.	.	ENSG00000140319	ENST00000267884	T	0.13089	2.62	4.6	1.5	0.22942	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21724	-1.0237	9	0.87932	D	0	.	6.4389	0.21839	0.0:0.5249:0.3727:0.1023	.	134	P37108	SRP14_HUMAN	T	134	ENSP00000267884:A134T	ENSP00000267884:A134T	A	-	1	0	SRP14	38115837	0.997000	0.39634	0.873000	0.34254	0.446000	0.32137	0.693000	0.25497	0.225000	0.20959	0.313000	0.20887	GCA		0.488	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		25	29	0	0	0	1	0	25	29				
TRPS1	7227	broad.mit.edu	37	8	116616449	116616449	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116616449C>T	ENST00000220888.5	-	3	1867	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	TRPS1_ENST00000520276.1_Missense_Mutation_p.G574R|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.G570R|TRPS1_ENST00000395715.3_Missense_Mutation_p.G583R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	570					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCAAAGTCCTCTGGGACAG	0.443									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1747-1749)Gga>Aga		trichorhinophalangeal syndrome I							70.0	70.0	70.0					8																	116616449		1899	4115	6014	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616449C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1708G>A	8.37:g.116616449C>T	ENSP00000220888:p.Gly570Arg					TRPS1_ENST00000220888.5_Missense_Mutation_p.G570R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G570R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G574R|TRPS1_ENST00000519076.1_Intron	p.G583R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2324	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		570					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1747G>A		.	.	.	.	.	.	.	.	.	.	C	18.59	3.656409	0.67586	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.87	4.98	0.66077	.	0.157866	0.56097	D	0.000027	T	0.61874	0.2382	L	0.27053	0.805	0.54753	D	0.999984	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75020	0.985;0.966;0.985	T	0.67665	-0.5612	10	0.87932	D	0	.	17.2772	0.87119	0.0:0.8745:0.1255:0.0	.	574;570;583	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	583;570;574;570	ENSP00000379065:G583R;ENSP00000220888:G570R;ENSP00000428680:G574R;ENSP00000429174:G570R	ENSP00000220888:G570R	G	-	1	0	TRPS1	116685624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	1.586000	0.49944	0.655000	0.94253	GGA		0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	28	0	0	0	1	0	7	28				
FCHSD1	89848	broad.mit.edu	37	5	141029928	141029928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141029928G>A	ENST00000435817.2	-	3	213	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.Q55*|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.Q55*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	55	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCATACCTGCCCATACTCC	0.507																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(163-165)Cag>Tag		FCH and double SH3 domains 1							113.0	116.0	115.0					5																	141029928		1975	4154	6129	SO:0001587	stop_gained	89848							g.chr5:141029928G>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.163C>T	5.37:g.141029928G>A	ENSP00000399259:p.Gln55*					FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.Q55*|FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.Q55*	p.Q55*	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	213	-			55			FCH.		Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	c.163C>T	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.821740	0.90873	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000519800	.	.	.	4.21	4.21	0.49690	.	0.078682	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-16.4351	14.8591	0.70366	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000399259:Q55X	Q	-	1	0	FCHSD1	141010112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	2.329000	0.79093	0.556000	0.70494	CAG		0.507	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		6	44	0	0	0	1	0	6	44				
TENM1	10178	broad.mit.edu	37	X	123514607	123514607	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:123514607G>A	ENST00000371130.3	-	31	8020	c.7957C>T	c.(7957-7959)Cgc>Tgc	p.R2653C	TENM1_ENST00000422452.2_Missense_Mutation_p.R2660C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2653					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCACTGCGCGCTGTCTGGCA	0.537																																						ENST00000422452.2																			0											c.(7978-7980)Cgc>Tgc		teneurin transmembrane protein 1							124.0	113.0	116.0					X																	123514607		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514607G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7957C>T	X.37:g.123514607G>A	ENSP00000360171:p.Arg2653Cys					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2653C	p.R2660C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8041	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7978C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354090	0.24512	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.2	5.73	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	D	0.93381	0.6743	10	0.87932	D	0	.	13.0788	0.59100	0.0:0.0:0.6831:0.3169	.	2659;2660;2653	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2653;2660	ENSP00000360171:R2653C;ENSP00000403954:R2660C	ENSP00000360171:R2653C	R	-	1	0	ODZ1	123342288	1.000000	0.71417	0.427000	0.26684	0.185000	0.23345	3.054000	0.49908	2.414000	0.81942	0.538000	0.68166	CGC		0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		28	13	0	0	0	1	0	28	13				
ALOX5	240	broad.mit.edu	37	10	45935962	45935962	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45935962C>T	ENST00000374391.2	+	8	1119	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	ALOX5_ENST00000542434.1_Missense_Mutation_p.R356C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	356	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AATCTGGGTGCGTTCCAGTGA	0.522																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1066-1068)Cgt>Tgt		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						102.0	86.0	92.0					10																	45935962		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45935962C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1066C>T	10.37:g.45935962C>T	ENSP00000363512:p.Arg356Cys					ALOX5_ENST00000542434.1_Missense_Mutation_p.R356C	p.R356C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			8	1119	+		Lung SC(717;0.0257)	356			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1066C>T	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215825	0.79352	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.095477	0.64402	D	0.000001	D	0.93298	0.7864	L	0.50993	1.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.983;0.996	D	0.92986	0.6410	10	0.62326	D	0.03	-21.3855	12.7994	0.57578	0.1634:0.8366:0.0:0.0	.	356;356;356	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	C	356	ENSP00000437634:R356C;ENSP00000363512:R356C	ENSP00000363512:R356C	R	+	1	0	ALOX5	45255968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.601000	0.61090	2.833000	0.97629	0.650000	0.86243	CGT		0.522	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			30	40	0	0	0	1	0	30	40				
FBLN1	2192	broad.mit.edu	37	22	45958962	45958962	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45958962G>A	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Missense_Mutation_p.G661D|FBLN1_ENST00000262722.7_Missense_Mutation_p.G623D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCATCACCGGCGGCAATGAG	0.662																																						ENST00000402984.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1981-1983)gGc>gAc		fibulin 1							45.0	52.0	50.0					22																	45958962		2203	4300	6503	SO:0001627	intron_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45958962G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11429G>A	22.37:g.45958962G>A						FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G623D|FBLN1_ENST00000442170.2_Intron	p.G661D			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2085	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	638					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1982G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	6.392	0.440448	0.12104	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.85556	-2.0;-1.88	5.0	1.69	0.24217	.	.	.	.	.	T	0.60508	0.2274	N	0.01352	-0.895	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.001;0.003	T	0.51772	-0.8663	9	0.24483	T	0.36	.	7.4332	0.27139	0.1556:0.1437:0.7007:0.0	.	661;623	B1AHL2;P23142-4	.;.	D	661;623	ENSP00000385521:G661D;ENSP00000262722:G623D	ENSP00000262722:G623D	G	+	2	0	FBLN1	44337626	0.050000	0.20438	0.007000	0.13788	0.927000	0.56198	1.514000	0.35834	0.482000	0.27582	0.467000	0.42956	GGC		0.662	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		17	24	0	0	0	1	0	17	24				
TONSL	4796	broad.mit.edu	37	8	145659037	145659037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145659037G>A	ENST00000409379.3	-	22	3522	c.3493C>T	c.(3493-3495)Cag>Tag	p.Q1165*	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1165					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCACACGCCTGCAGGCGCAGG	0.642																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3493-3495)Cag>Tag		tonsoku-like, DNA repair protein							51.0	57.0	55.0					8																	145659037		2203	4300	6503	SO:0001587	stop_gained	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659037G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3493C>T	8.37:g.145659037G>A	ENSP00000386239:p.Gln1165*						p.Q1165*	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			22	3522	-			1165					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Nonsense_Mutation	SNP	ENST00000409379.3	37	c.3493C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	g	38	6.656512	0.97739	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	5.2	5.2	0.72013	.	0.134719	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.7038	16.2225	0.82267	0.0:0.0:1.0:0.0	.	.	.	.	X	1165;1164	.	ENSP00000386239:Q1165X	Q	-	1	0	TONSL	145629845	1.000000	0.71417	0.977000	0.42913	0.008000	0.06430	5.471000	0.66762	2.438000	0.82558	0.462000	0.41574	CAG		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		7	51	0	0	0	1	0	7	51				
RPTOR	57521	broad.mit.edu	37	17	78857702	78857702	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78857702C>T	ENST00000306801.3	+	16	2134	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	591					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTCGACTCGGCGAGGTGGTGC	0.647																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1771-1773)gCg>gTg		regulatory associated protein of MTOR, complex 1							59.0	55.0	56.0					17																	78857702		2203	4300	6503	SO:0001583	missense	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.chr17:78857702C>T		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.1772C>T	17.37:g.78857702C>T	ENSP00000307272:p.Ala591Val					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.A591V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			16	2134	+			591					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1772C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405191	0.83230	.	.	ENSG00000141564	ENST00000306801	T	0.35048	1.33	4.56	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	P	0.53593	0.73	T	0.68588	-0.5369	10	0.54805	T	0.06	.	17.7477	0.88425	0.0:1.0:0.0:0.0	.	591	Q8N122	RPTOR_HUMAN	V	591	ENSP00000307272:A591V	ENSP00000307272:A591V	A	+	2	0	RPTOR	76472297	1.000000	0.71417	0.579000	0.28588	0.407000	0.30961	7.248000	0.78268	2.262000	0.75019	0.558000	0.71614	GCG		0.647	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		6	25	0	0	0	1	0	6	25				
CCDC80	151887	broad.mit.edu	37	3	112337901	112337901	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112337901G>A	ENST00000206423.3	-	4	3039	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R696C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	696					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGATGAGACGCTGGTCTACC	0.438																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2086-2088)Cgt>Tgt		coiled-coil domain containing 80							125.0	107.0	113.0					3																	112337901		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112337901G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2086C>T	3.37:g.112337901G>A	ENSP00000206423:p.Arg696Cys					CCDC80_ENST00000439685.2_Missense_Mutation_p.R696C	p.R696C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			4	3039	-			696					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2086C>T	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.85|16.85	3.237322|3.237322	0.58886|0.58886	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000461431|ENST00000206423;ENST00000439685;ENST00000444594	.|T;T	.|0.43688	.|0.94;0.94	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.203051	.|0.51477	.|D	.|0.000082	T|T	0.35364|0.35364	0.0929|0.0929	N|N	0.08118|0.08118	0|0	0.37379|0.37379	D|D	0.911957|0.911957	.|D;D;D	.|0.54397	.|0.958;0.966;0.966	.|P;P;P	.|0.51055	.|0.646;0.657;0.657	T|T	0.43988|0.43988	-0.9357|-0.9357	5|10	.|0.56958	.|D	.|0.05	-16.7301|-16.7301	15.7259|15.7259	0.77761|0.77761	0.0:0.1359:0.8641:0.0|0.0:0.1359:0.8641:0.0	.|.	.|707;696;696	.|Q76M96-2;A3KC71;Q76M96	.|.;.;CCD80_HUMAN	V|C	93|696;696;324	.|ENSP00000206423:R696C;ENSP00000411814:R696C	.|ENSP00000206423:R696C	A|R	-|-	2|1	0|0	CCDC80|CCDC80	113820591|113820591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.600000|4.600000	0.61083|0.61083	2.866000|2.866000	0.98385|0.98385	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.438	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		11	49	0	0	0	1	0	11	49				
PHF21B	112885	broad.mit.edu	37	22	45312240	45312240	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45312240C>T	ENST00000313237.5	-	4	634	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A162T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.A150T|PHF21B_ENST00000404079.2_Missense_Mutation_p.A150T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	162							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGGCCATGGCGGCGGCATTG	0.687																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(484-486)Gcc>Acc		PHD finger protein 21B							22.0	28.0	26.0					22																	45312240		2202	4297	6499	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312240C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.484G>A	22.37:g.45312240C>T	ENSP00000324403:p.Ala162Thr					PHF21B_ENST00000396103.3_Missense_Mutation_p.A162T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A150T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A150T	p.A162T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	634	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	162					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.484G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.141967	0.21205	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;T;T;T;T	0.81499	-1.5;-1.49;-1.49;1.49;0.9	5.09	0.282	0.15692	.	0.553976	0.16409	N	0.215661	T	0.52041	0.1710	N	0.14661	0.345	0.22389	N	0.999147	B;B;B;B	0.17465	0.017;0.007;0.01;0.022	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.38200	-0.9672	10	0.02654	T	1	-24.1284	0.645	0.00816	0.1654:0.2757:0.2603:0.2987	.	150;162;150;162	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	T	162;162;150;150;150	ENSP00000324403:A162T;ENSP00000379410:A162T;ENSP00000385105:A150T;ENSP00000388619:A150T;ENSP00000401294:A150T	ENSP00000324403:A162T	A	-	1	0	PHF21B	43690904	0.171000	0.23029	0.989000	0.46669	0.929000	0.56500	-0.090000	0.11163	0.172000	0.19760	0.655000	0.94253	GCC		0.687	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		4	9	0	0	0	1	0	4	9				
POU5F2	134187	broad.mit.edu	37	5	93077201	93077201	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:93077201C>T	ENST00000510627.4	-	1	142	c.69G>A	c.(67-69)ggG>ggA	p.G23G	FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	23					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGGGCATCGGCCCTCTGGGGC	0.692																																						ENST00000510627.4																			0											c.(67-69)ggG>ggA		POU domain class 5, transcription factor 2							15.0	18.0	17.0					5																	93077201		1907	4101	6008	SO:0001819	synonymous_variant	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077201C>T		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.69G>A	5.37:g.93077201C>T						FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron	p.G23G	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	142	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	23					Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	c.69G>A	CCDS59489.1																																																																																				0.692	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		8	12	0	0	0	1	0	8	12				
NSG1	27065	broad.mit.edu	37	4	4411342	4411342	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4411342G>A	ENST00000421177.2	+	8	2280	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	NSG1_ENST00000505246.1_Missense_Mutation_p.V97I|NSG1_ENST00000397958.1_Missense_Mutation_p.V97I|NSG1_ENST00000433139.2_Missense_Mutation_p.V97I|NSG1_ENST00000504171.1_Missense_Mutation_p.V58I|NSG1_ENST00000513555.1_Missense_Mutation_p.V97I|NSG1_ENST00000506380.1_Missense_Mutation_p.V97I			P42857	NSG1_HUMAN		97					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCTCACCTGCGTCGTCTTCCT	0.612																																						ENST00000421177.2																			0											c.(289-291)Gtc>Atc									194.0	149.0	164.0					4																	4411342		2203	4300	6503	SO:0001583	missense	0							g.chr4:4411342G>A																												ENST00000421177.2:c.289G>A	4.37:g.4411342G>A	ENSP00000388823:p.Val97Ile					NSG1_ENST00000397958.1_Missense_Mutation_p.V97I|NSG1_ENST00000504171.1_Missense_Mutation_p.V58I|NSG1_ENST00000513555.1_Missense_Mutation_p.V97I|NSG1_ENST00000506380.1_Missense_Mutation_p.V97I|NSG1_ENST00000433139.2_Missense_Mutation_p.V97I|NSG1_ENST00000505246.1_Missense_Mutation_p.V97I	p.V97I							8	2280	+								B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.289G>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469122	0.26423	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000003	T	0.42063	0.1186	L	0.35414	1.06	0.49130	D	0.999756	B;B	0.21071	0.031;0.051	B;B	0.15052	0.008;0.012	T	0.24905	-1.0147	9	0.14252	T	0.57	-17.9549	11.2857	0.49220	0.0889:0.0:0.9111:0.0	.	58;97	B4DXC5;P42857	.;NSG1_HUMAN	I	97;97;97;97;97;97;58	.	ENSP00000381049:V97I	V	+	1	0	AC110814.1	4462243	0.999000	0.42202	0.993000	0.49108	0.982000	0.71751	2.789000	0.47813	2.127000	0.65507	0.561000	0.74099	GTC		0.612	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			13	41	0	0	0	1	0	13	41				
FBXO46	23403	broad.mit.edu	37	19	46216179	46216179	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46216179C>T	ENST00000317683.3	-	2	708	c.575G>A	c.(574-576)cGa>cAa	p.R192Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGTGGTCGGTCGTGGGTAGCT	0.697																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(574-576)cGa>cAa		F-box protein 46							12.0	15.0	14.0					19																	46216179		1997	4146	6143	SO:0001583	missense	23403						protein binding	g.chr19:46216179C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.575G>A	19.37:g.46216179C>T	ENSP00000410007:p.Arg192Gln						p.R192Q	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	708	-		Ovarian(192;0.179)|all_neural(266;0.224)	192						Missense_Mutation	SNP	ENST00000317683.3	37	c.575G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	8.103	0.777158	0.16120	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.12	3.09	0.35607	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	B	0.36959	0.237	T	0.05903	-1.0857	8	0.62326	D	0.03	-19.276	7.5088	0.27562	0.0:0.8826:0.0:0.1174	.	192	Q6PJ61	FBX46_HUMAN	Q	192	.	ENSP00000410007:R192Q	R	-	2	0	FBXO46	50908019	0.003000	0.15002	0.354000	0.25760	0.077000	0.17291	1.729000	0.38115	0.957000	0.37930	0.462000	0.41574	CGA		0.697	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		6	6	0	0	0	1	0	6	6				
ANKRD26	22852	broad.mit.edu	37	10	27368073	27368073	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27368073C>T	ENST00000376087.4	-	7	923	c.758G>A	c.(757-759)gGt>gAt	p.G253D	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G302D|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	253					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATCATCAACACCCGGTTTGCC	0.338																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(757-759)gGt>gAt		ankyrin repeat domain 26							101.0	94.0	96.0					10																	27368073		1834	4079	5913	SO:0001583	missense	22852					centrosome		g.chr10:27368073C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.758G>A	10.37:g.27368073C>T	ENSP00000365255:p.Gly253Asp					ANKRD26_ENST00000436985.2_Missense_Mutation_p.G302D|ANKRD26_ENST00000466890.1_5'UTR	p.G253D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			7	923	-			253					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.758G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	9.574	1.121678	0.20877	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.36878	4.34;1.23	5.22	-0.469	0.12142	.	.	.	.	.	T	0.17916	0.0430	N	0.13235	0.315	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.31194	-0.9952	9	0.15066	T	0.55	.	8.0796	0.30737	0.0:0.4295:0.0:0.5705	.	253;253	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	D	253;302	ENSP00000365255:G253D;ENSP00000405112:G302D	ENSP00000365255:G253D	G	-	2	0	ANKRD26	27408079	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.212000	0.02994	-0.409000	0.07553	0.591000	0.81541	GGT		0.338	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			28	47	0	0	0	1	0	28	47				
DNAH10	196385	broad.mit.edu	37	12	124285893	124285893	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124285893C>T	ENST00000409039.3	+	15	2199	c.2174C>T	c.(2173-2175)gCg>gTg	p.A725V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	725	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAAACGATGCGGAGTCTGTG	0.458																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2173-2175)gCg>gTg		dynein, axonemal, heavy chain 10							276.0	237.0	250.0					12																	124285893		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124285893C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2174C>T	12.37:g.124285893C>T	ENSP00000386770:p.Ala725Val						p.A725V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	15	2199	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		725			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2174C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109896	0.20714	.	.	ENSG00000197653	ENST00000409039	T	0.51325	0.71	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.098152	0.38897	N	0.001540	T	0.41696	0.1170	L	0.45581	1.43	0.45837	D	0.998703	P;P;P	0.43662	0.595;0.814;0.647	B;B;B	0.40782	0.335;0.34;0.252	T	0.38067	-0.9678	10	0.02654	T	1	.	19.3792	0.94525	0.0:1.0:0.0:0.0	.	725;600;725	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	V	725	ENSP00000386770:A725V	ENSP00000386770:A725V	A	+	2	0	DNAH10	122851846	1.000000	0.71417	0.763000	0.31416	0.012000	0.07955	5.332000	0.65911	2.571000	0.86741	0.655000	0.94253	GCG		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	185	0	0	0	1	0	7	185				
SAMM50	25813	broad.mit.edu	37	22	44377306	44377306	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44377306A>G	ENST00000350028.4	+	11	1129	c.972A>G	c.(970-972)gtA>gtG	p.V324V	SAMM50_ENST00000396202.3_Silent_p.V114V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	324					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAATGTTGGTACCCATTGGTG	0.388																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(970-972)gtA>gtG		SAMM50 sorting and assembly machinery component							216.0	192.0	200.0					22																	44377306		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44377306A>G	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.972A>G	22.37:g.44377306A>G						SAMM50_ENST00000396202.3_Silent_p.V114V	p.V324V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			11	1129	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	324					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.972A>G	CCDS14055.1																																																																																				0.388	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		9	88	0	0	0	1	0	9	88				
ZNF77	58492	broad.mit.edu	37	19	2933602	2933602	+	Missense_Mutation	SNP	C	C	T	rs139100623|rs565530193	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2933602C>T	ENST00000314531.4	-	4	1615	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	508					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.R508H(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTGCACACGAAGGGACGA	0.493																																						ENST00000314531.4																			1	Substitution - Missense(1)	p.R508H(1)	ovary(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1522-1524)cGt>cAt		zinc finger protein 77		C	HIS/ARG	0,4406		0,0,2203	212.0	174.0	187.0		1523	1.5	0.0	19	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF77	NM_021217.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	508/546	2933602	2,13004	2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933602C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1523G>A	19.37:g.2933602C>T	ENSP00000319053:p.Arg508His						p.R508H	NM_021217.2	NP_067040.1	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1615	-			508					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1523G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910970	0.33721	0.0	2.33E-4	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.08102	3.13	2.56	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	L	0.31120	0.905	0.09310	N	1	D	0.63880	0.993	P	0.48952	0.596	T	0.30504	-0.9976	9	0.35671	T	0.21	.	4.6621	0.12648	0.0:0.6857:0.0:0.3143	.	508	Q15935	ZNF77_HUMAN	H	302;508	ENSP00000319053:R508H	ENSP00000319053:R508H	R	-	2	0	ZNF77	2884602	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.909000	0.01586	0.415000	0.25817	0.491000	0.48974	CGT		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		43	72	0	0	0	1	0	43	72				
GTPBP10	85865	broad.mit.edu	37	7	90006927	90006927	+	Splice_Site	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90006927T>A	ENST00000222511.6	+	7	764	c.698T>A	c.(697-699)gTt>gAt	p.V233D	GTPBP10_ENST00000257659.8_Splice_Site_p.V154D	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	233	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CTACTTTTTGTTGTAAGTCAT	0.303																																						ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.e7+1		GTP-binding protein 10 (putative)							68.0	69.0	69.0					7																	90006927		2203	4295	6498	SO:0001630	splice_region_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:90006927T>A		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.699+1T>A	7.37:g.90006927T>A						GTPBP10_ENST00000257659.8_Splice_Site_p.V154_splice	p.V233_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			7	764	+			233					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Splice_Site	SNP	ENST00000222511.6	37	c.699_splice	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746300	0.89663	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.36340	1.26;1.26;1.26	5.89	5.89	0.94794	GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.056132	0.64402	D	0.000001	T	0.75133	0.3808	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.85132	0.0975	9	.	.	.	-23.1492	16.2915	0.82755	0.0:0.0:0.0:1.0	.	154;233	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	D	154;233;160	ENSP00000257659:V154D;ENSP00000222511:V233D;ENSP00000416596:V160D	.	V	+	2	0	GTPBP10	89844863	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.555000	0.82223	2.248000	0.74166	0.528000	0.53228	GTT		0.303	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	Missense_Mutation	40	44	0	0	0	1	0	40	44				
ZNF521	25925	broad.mit.edu	37	18	22804681	22804681	+	Silent	SNP	G	G	A	rs375194752		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22804681G>A	ENST00000361524.3	-	4	3349	c.3201C>T	c.(3199-3201)tgC>tgT	p.C1067C	ZNF521_ENST00000538137.2_Silent_p.C1067C|ZNF521_ENST00000584787.1_Silent_p.C847C|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1067					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)			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)					GGCAAGATGCGCACTTATACA	0.498			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(3199-3201)tgC>tgT		zinc finger protein 521		G		0,4406		0,0,2203	74.0	63.0	67.0		3201	-5.1	0.8	18		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1067/1312	22804681	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:22804681G>A	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.3201C>T	18.37:g.22804681G>A						ZNF521_ENST00000584787.1_Silent_p.C847C|ZNF521_ENST00000538137.2_Silent_p.C1067C	p.C1067C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3349	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1067					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3201C>T	CCDS32806.1																																																																																				0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	34	0	0	0	1	0	21	34				
EVPL	2125	broad.mit.edu	37	17	74011183	74011183	+	Missense_Mutation	SNP	C	C	T	rs561427047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74011183C>T	ENST00000301607.3	-	17	2289	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R701Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	679	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCTCCCTCCGCTGGCGCTG	0.692																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2035-2037)cGg>cAg		envoplakin							18.0	20.0	19.0					17																	74011183		2194	4285	6479	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011183C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2036G>A	17.37:g.74011183C>T	ENSP00000301607:p.Arg679Gln					EVPL_ENST00000586740.1_Missense_Mutation_p.R701Q	p.R679Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			17	2289	-			679			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.2036G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788937	0.31685	.	.	ENSG00000167880	ENST00000301607	T	0.32515	1.45	4.82	4.82	0.62117	.	0.184588	0.44483	D	0.000451	T	0.21718	0.0523	L	0.45137	1.4	0.32825	D	0.503216	B;P	0.36144	0.218;0.539	B;B	0.28305	0.012;0.088	T	0.30238	-0.9985	10	0.40728	T	0.16	-60.5943	9.1333	0.36859	0.0:0.7924:0.0:0.2076	.	701;679	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	679	ENSP00000301607:R679Q	ENSP00000301607:R679Q	R	-	2	0	EVPL	71522778	0.071000	0.21146	0.999000	0.59377	0.358000	0.29455	0.357000	0.20199	2.614000	0.88457	0.561000	0.74099	CGG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		15	14	0	0	0	1	0	15	14				
COL7A1	1294	broad.mit.edu	37	3	48613965	48613965	+	Missense_Mutation	SNP	G	G	A	rs201719223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48613965G>A	ENST00000328333.8	-	68	5833	c.5726C>T	c.(5725-5727)aCg>aTg	p.T1909M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T1877M|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1909	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGGGGCCCGTGCCTCCTGG	0.597																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5725-5727)aCg>aTg		collagen, type VII, alpha 1		G	MET/THR	0,4404		0,0,2202	21.0	21.0	21.0		5726	-3.9	0.0	3		21	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL7A1	NM_000094.3	81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1909/2945	48613965	1,13003	2202	4300	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613965G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5726C>T	3.37:g.48613965G>A	ENSP00000332371:p.Thr1909Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.T1877M	p.T1909M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	68	5833	-			1909			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5726C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784152	0.31593	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94376	-3.41;-3.23	5.63	-3.91	0.04168	.	1.548980	0.04380	N	0.360615	D	0.89203	0.6648	L	0.28649	0.875	0.09310	N	1	P	0.43938	0.822	B	0.40677	0.337	T	0.80763	-0.1237	10	0.44086	T	0.13	.	14.4117	0.67119	0.1949:0.0:0.8051:0.0	.	1909	Q02388	CO7A1_HUMAN	M	1909;1877	ENSP00000332371:T1909M;ENSP00000412569:T1877M	ENSP00000332371:T1909M	T	-	2	0	COL7A1	48588969	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.410000	0.21098	-0.613000	0.05694	-0.469000	0.05056	ACG		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	6	0	0	0	1	0	14	6				
PLXNA1	5361	broad.mit.edu	37	3	126737303	126737303	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126737303G>A	ENST00000393409.2	+	19	3827	c.3827G>A	c.(3826-3828)cGc>cAc	p.R1276H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1253H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1276					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCTGACCGCACACTCAAG	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3757-3759)cGc>cAc		plexin A1							66.0	56.0	60.0					3																	126737303		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126737303G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3827G>A	3.37:g.126737303G>A	ENSP00000377061:p.Arg1276His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1276H	p.R1253H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	19	3827	+			1276						Missense_Mutation	SNP	ENST00000393409.2	37	c.3758G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191071	0.58017	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14893	2.47;2.47	4.18	4.18	0.49190	.	0.082498	0.44285	D	0.000478	T	0.46034	0.1372	M	0.86502	2.82	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.58381	-0.7646	10	0.72032	D	0.01	.	16.6728	0.85271	0.0:0.0:1.0:0.0	.	1276	Q9UIW2	PLXA1_HUMAN	H	1276;1253	ENSP00000377061:R1276H;ENSP00000251772:R1253H	ENSP00000251772:R1253H	R	+	2	0	PLXNA1	128219993	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.163000	0.64948	2.158000	0.67659	0.467000	0.42956	CGC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		15	18	0	0	0	1	0	15	18				
TTN	7273	broad.mit.edu	37	2	179438251	179438251	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179438251T>C	ENST00000591111.1	-	276	67909	c.67685A>G	c.(67684-67686)tAt>tGt	p.Y22562C	TTN_ENST00000342992.6_Missense_Mutation_p.Y21635C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y15263C|TTN_ENST00000460472.2_Missense_Mutation_p.Y15138C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y24203C|TTN_ENST00000342175.6_Missense_Mutation_p.Y15330C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22562	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACTCCATATTTATTTAC	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72607-72609)tAt>tGt		titin							151.0	154.0	153.0					2																	179438251		1930	4122	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438251T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67685A>G	2.37:g.179438251T>C	ENSP00000465570:p.Tyr22562Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y15330C|TTN_ENST00000591111.1_Missense_Mutation_p.Y22562C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y15138C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y21635C|TTN_ENST00000359218.5_Missense_Mutation_p.Y15263C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.Y24203C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72832	-			22562			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72608A>G		.	.	.	.	.	.	.	.	.	.	T	10.92	1.487147	0.26686	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.08	4.91	0.64330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67896	0.2942	M	0.63208	1.945	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.964;0.947	T	0.70521	-0.4849	9	0.87932	D	0	.	12.9076	0.58162	0.1216:0.0:0.0:0.8784	.	15138;15263;15330;22562	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	21635;15138;15330;15263;15136	ENSP00000343764:Y21635C;ENSP00000434586:Y15138C;ENSP00000340554:Y15330C;ENSP00000352154:Y15263C	ENSP00000340554:Y15330C	Y	-	2	0	TTN	179146497	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.040000	0.89188	1.086000	0.41228	0.533000	0.62120	TAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	73	0	0	0	1	0	57	73				
GATA5	140628	broad.mit.edu	37	20	61041509	61041509	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61041509G>T	ENST00000252997.2	-	4	859	c.798C>A	c.(796-798)gcC>gcA	p.A266A		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	266			A -> P (probable disease-associated mutation found in patients with atrial fibrillation). {ECO:0000269|PubMed:22483626}.		blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGAGGCCGCAGGCATTGCACA	0.701																																						ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(796-798)gcC>gcA		GATA binding protein 5							29.0	28.0	28.0					20																	61041509		2193	4291	6484	SO:0001819	synonymous_variant	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61041509G>T	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.798C>A	20.37:g.61041509G>T							p.A266A	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		4	859	-	Breast(26;2.05e-08)		266					D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	c.798C>A	CCDS13499.1																																																																																				0.701	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	2	1	0	0.004672	1	0.00472505	3	2				
DZIP3	9666	broad.mit.edu	37	3	108363630	108363630	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108363630T>C	ENST00000361582.3	+	14	1989		c.e14+2		DZIP3_ENST00000463306.1_Splice_Site	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3						protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCAACAAGGTACTAAATGAT	0.418																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.e14+2		DAZ interacting zinc finger protein 3							52.0	50.0	51.0					3																	108363630		2203	4299	6502	SO:0001630	splice_region_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363630T>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1759+2T>C	3.37:g.108363630T>C						DZIP3_ENST00000463306.1_Splice_Site		NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1989	+								B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	37		CCDS2952.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970210	0.53614	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2663	0.43457	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DZIP3	109846320	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.090000	0.50191	2.191000	0.70037	0.482000	0.46254	.		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Intron	16	17	0	0	0	1	0	16	17				
OR52N2	390077	broad.mit.edu	37	11	5842294	5842294	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5842294C>T	ENST00000317037.2	+	1	751	c.729C>T	c.(727-729)tgC>tgT	p.C243C	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACCTGCACATCTCACA	0.413																																						ENST00000317037.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(727-729)tgC>tgT		olfactory receptor, family 52, subfamily N, member 2							244.0	193.0	210.0					11																	5842294		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842294C>T	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.729C>T	11.37:g.5842294C>T						TRIM5_ENST00000380027.1_Intron	p.C243C	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	751	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	243					Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.729C>T	CCDS31399.1																																																																																				0.413	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		32	52	0	0	0	1	0	32	52				
GSX1	219409	broad.mit.edu	37	13	28367779	28367779	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:28367779G>A	ENST00000302945.2	+	2	537	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	163					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TAGAGCTGGAGCGCGAGTTCG	0.572																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(487-489)gaG>gaA		GS homeobox 1							86.0	80.0	82.0					13																	28367779		2203	4300	6503	SO:0001819	synonymous_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367779G>A	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.489G>A	13.37:g.28367779G>A							p.E163E	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	537	+		Lung SC(185;0.0161)	163					Q9UD62	Silent	SNP	ENST00000302945.2	37	c.489G>A	CCDS9326.1																																																																																				0.572	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		18	34	0	0	0	1	0	18	34				
BSN	8927	broad.mit.edu	37	3	49693650	49693650	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49693650C>T	ENST00000296452.4	+	5	6775	c.6661C>T	c.(6661-6663)Cgt>Tgt	p.R2221C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2221					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCCATGGTGCGTGGTGGCAT	0.587																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6661-6663)Cgt>Tgt		bassoon presynaptic cytomatrix protein							71.0	60.0	64.0					3																	49693650		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693650C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6661C>T	3.37:g.49693650C>T	ENSP00000296452:p.Arg2221Cys						p.R2221C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6775	+			2221					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6661C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452444	0.43531	.	.	ENSG00000164061	ENST00000296452	T	0.39592	1.07	5.53	5.53	0.82687	.	0.053948	0.64402	D	0.000001	T	0.60715	0.2290	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.64529	-0.6386	10	0.87932	D	0	-7.7979	17.6345	0.88118	0.0:1.0:0.0:0.0	.	2221	Q9UPA5	BSN_HUMAN	C	2221	ENSP00000296452:R2221C	ENSP00000296452:R2221C	R	+	1	0	BSN	49668654	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.587000	0.60991	2.605000	0.88082	0.655000	0.94253	CGT		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	11	0	0	0	1	0	12	11				
HSF2BP	11077	broad.mit.edu	37	21	44949656	44949656	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44949656C>T	ENST00000291560.2	-	9	1314	c.983G>A	c.(982-984)cGc>cAc	p.R328H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R253H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	328					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTCCAGAGTGCGGAGATCTTC	0.587																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(982-984)cGc>cAc		heat shock transcription factor 2 binding protein							53.0	53.0	53.0					21																	44949656		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949656C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.983G>A	21.37:g.44949656C>T	ENSP00000291560:p.Arg328His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R253H	p.R328H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	9	1314	-			328					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.983G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008415	0.35415	.	.	ENSG00000160207	ENST00000291560;ENST00000542962	T	0.67865	-0.29	5.57	0.619	0.17630	Armadillo-type fold (1);	0.377447	0.28077	N	0.016699	T	0.48840	0.1522	L	0.29908	0.895	0.22199	N	0.99929	B	0.10296	0.003	B	0.06405	0.002	T	0.43081	-0.9413	10	0.62326	D	0.03	-14.9653	7.1069	0.25368	0.0:0.3369:0.0:0.6631	.	328	O75031	HSF2B_HUMAN	H	328;253	ENSP00000291560:R328H	ENSP00000291560:R328H	R	-	2	0	HSF2BP	43774084	0.917000	0.31117	0.238000	0.24106	0.020000	0.10135	1.484000	0.35508	0.183000	0.20059	0.563000	0.77884	CGC		0.587	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		12	9	0	0	0	1	0	12	9				
MACF1	23499	broad.mit.edu	37	1	39853218	39853218	+	Missense_Mutation	SNP	A	A	G	rs617401		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39853218A>G	ENST00000372915.3	+	57	14806	c.14719A>G	c.(14719-14721)Atg>Gtg	p.M4907V	MACF1_ENST00000564288.1_Missense_Mutation_p.M4902V|MACF1_ENST00000289893.4_Missense_Mutation_p.M3342V|MACF1_ENST00000539005.1_Missense_Mutation_p.M2819V|MACF1_ENST00000545844.1_Missense_Mutation_p.M2840V|MACF1_ENST00000567887.1_Missense_Mutation_p.M4939V|MACF1_ENST00000317713.7_Missense_Mutation_p.M2840V|MACF1_ENST00000361689.2_Missense_Mutation_p.M2840V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4907					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGATTGTATGCAGAAAGC	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14704-14706)Atg>Gtg		microtubule-actin crosslinking factor 1							68.0	69.0	68.0					1																	39853218		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853218A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14719A>G	1.37:g.39853218A>G	ENSP00000362006:p.Met4907Val					MACF1_ENST00000567887.1_Missense_Mutation_p.M4939V|MACF1_ENST00000539005.1_Missense_Mutation_p.M2819V|MACF1_ENST00000372915.3_Missense_Mutation_p.M4907V|MACF1_ENST00000361689.2_Missense_Mutation_p.M2840V|MACF1_ENST00000317713.7_Missense_Mutation_p.M2840V|MACF1_ENST00000289893.4_Missense_Mutation_p.M3342V|MACF1_ENST00000545844.1_Missense_Mutation_p.M2840V	p.M4902V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15481	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4907					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14704A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.02|10.02	1.235304|1.235304	0.22626|0.22626	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44;1.44;1.44|.	6.17|6.17	-2.98|-2.98	0.05513|0.05513	.|.	0.394164|.	0.24534|.	N|.	0.037689|.	T|T	0.44329|0.44329	0.1288|0.1288	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B;B|.	0.17268|.	0.013;0.021;0.006|.	B;B;B|.	0.26517|.	0.07;0.01;0.007|.	T|T	0.32719|0.32719	-0.9896|-0.9896	10|5	0.54805|.	T|.	0.06|.	.|.	8.0944|8.0944	0.30820|0.30820	0.1918:0.2901:0.0:0.5182|0.1918:0.2901:0.0:0.5182	rs617401;rs617401|rs617401;rs617401	4907;2840;2784|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	2840;4907;2840;2840;2819;3342|1952	ENSP00000439537:M2840V;ENSP00000362006:M4907V;ENSP00000354573:M2840V;ENSP00000313438:M2840V;ENSP00000444364:M2819V;ENSP00000289893:M3342V|.	ENSP00000289893:M3342V|.	M|Y	+|+	1|2	0|0	MACF1|MACF1	39625805|39625805	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	-0.154000|-0.154000	0.10130|0.10130	-0.067000|-0.067000	0.12976|0.12976	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	42	0	0	0	1	0	27	42				
LAX1	54900	broad.mit.edu	37	1	203743159	203743159	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203743159G>A	ENST00000442561.2	+	5	937	c.547G>A	c.(547-549)Gca>Aca	p.A183T	LAX1_ENST00000367217.5_Missense_Mutation_p.A167T|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	183					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGACTGCGCAAGCATTTC	0.507																																						ENST00000442561.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(547-549)Gca>Aca		lymphocyte transmembrane adaptor 1							101.0	92.0	95.0					1																	203743159		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743159G>A	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.547G>A	1.37:g.203743159G>A	ENSP00000406970:p.Ala183Thr					LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A167T	p.A183T	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	937	+	all_cancers(21;0.0915)		183					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.547G>A	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	4.732	0.136069	0.09032	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.21	-9.57	0.00562	.	1.864850	0.02796	N	0.122601	T	0.05960	0.0155	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23762	-1.0179	9	0.06757	T	0.87	6.2849	0.1359	0.00078	0.3037:0.1827:0.244:0.2696	.	167;183	B7Z744;Q8IWV1	.;LAX1_HUMAN	T	183;167	.	ENSP00000356186:A167T	A	+	1	0	LAX1	202009782	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.815000	0.01722	-1.400000	0.02061	-0.294000	0.09567	GCA		0.507	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		33	39	0	0	0	1	0	33	39				
ATP10A	57194	broad.mit.edu	37	15	25932910	25932910	+	Silent	SNP	G	G	A	rs115227702		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25932910G>A	ENST00000356865.6	-	16	3342	c.3231C>T	c.(3229-3231)caC>caT	p.H1077H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1077					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCAATGCCCGTGAAGAATCA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19811	0.0		0.0	False		,,,				2504	0.0					ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3229-3231)caC>caT		ATPase, class V, type 10A							159.0	147.0	151.0					15																	25932910		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25932910G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3231C>T	15.37:g.25932910G>A							p.H1077H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3342	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1077					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3231C>T	CCDS32178.1																																																																																				0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		37	46	0	0	0	1	0	37	46				
PRRC2C	23215	broad.mit.edu	37	1	171556249	171556249	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171556249C>T	ENST00000338920.4	+	31	8088	c.7851C>T	c.(7849-7851)acC>acT	p.T2617T	PRRC2C_ENST00000367742.3_Silent_p.T2619T|PRRC2C_ENST00000392078.3_Silent_p.T2619T|PRRC2C_ENST00000426496.2_Silent_p.T2552T	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2617	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TACAGCATACCACTCCCCAAG	0.488																																						ENST00000367742.3																			0											c.(7855-7857)acC>acT		proline-rich coiled-coil 2C							83.0	70.0	75.0					1																	171556249		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171556249C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7851C>T	1.37:g.171556249C>T						PRRC2C_ENST00000338920.4_Silent_p.T2617T|PRRC2C_ENST00000426496.2_Silent_p.T2552T|PRRC2C_ENST00000392078.3_Silent_p.T2619T	p.T2619T			Q9Y520	PRC2C_HUMAN			31	8099	+			2617			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.7857C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	7.698	0.692568	0.15039	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.34	-5.44	0.02624	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.32112	N	0.589115	.	.	.	.	.	.	T	0.18461	-1.0336	4	.	.	.	.	3.1254	0.06406	0.4745:0.2352:0.1668:0.1235	.	.	.	.	L	1100	.	.	P	+	2	0	PRRC2C	169822873	0.006000	0.16342	0.002000	0.10522	0.941000	0.58515	-1.663000	0.01968	-0.832000	0.04251	0.460000	0.39030	CCA		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	8	0	0	0	1	0	5	8				
MRO	83876	broad.mit.edu	37	18	48335698	48335698	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48335698T>C	ENST00000428869.2	-	4	331	c.73A>G	c.(73-75)Aca>Gca	p.T25A	MRO_ENST00000398439.3_Missense_Mutation_p.T25A|MRO_ENST00000256425.2_Missense_Mutation_p.T25A|MRO_ENST00000436348.2_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.T25A			Q9BYG7	MSTRO_HUMAN	maestro	25						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ATCATTGATGTCCTTTTCTGC	0.413																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.(73-75)Aca>Gca		maestro							98.0	88.0	91.0					18																	48335698		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48335698T>C	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.73A>G	18.37:g.48335698T>C	ENSP00000409509:p.Thr25Ala					MRO_ENST00000256425.2_Missense_Mutation_p.T25A|MRO_ENST00000436348.2_Intron|MRO_ENST00000587291.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.T25A|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.T25A	p.T25A			Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	4	331	-		Colorectal(6;0.0596)	25					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.73A>G	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460249	0.26248	.	.	ENSG00000134042	ENST00000428869;ENST00000398439;ENST00000256425	T;T;T	0.30448	1.53;1.53;1.53	5.48	5.48	0.80851	Armadillo-type fold (1);	0.787774	0.11455	N	0.562378	T	0.36826	0.0981	M	0.72479	2.2	0.29373	N	0.863888	P;P	0.41131	0.739;0.739	B;B	0.40782	0.34;0.291	T	0.29701	-1.0003	10	0.29301	T	0.29	.	11.9578	0.52991	0.0:0.0:0.0:1.0	.	25;25	E9PFU2;Q9BYG7	.;MSTRO_HUMAN	A	25	ENSP00000409509:T25A;ENSP00000381465:T25A;ENSP00000256425:T25A	ENSP00000256425:T25A	T	-	1	0	MRO	46589696	0.481000	0.25941	0.955000	0.39395	0.030000	0.12068	1.416000	0.34759	2.093000	0.63338	0.528000	0.53228	ACA		0.413	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		11	51	0	0	0	1	0	11	51				
PPARGC1A	10891	broad.mit.edu	37	4	23830129	23830129	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(649-651)aaC>aaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							381.0	346.0	357.0					4																	23830129		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830129G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.651C>T	4.37:g.23830129G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.N217N	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			5	770	-		Breast(46;0.0503)	217					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.651C>T	CCDS3429.1																																																																																				0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		20	109	0	0	0	1	0	20	109				
KIAA1522	57648	broad.mit.edu	37	1	33235718	33235718	+	Missense_Mutation	SNP	G	G	A	rs565146691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33235718G>A	ENST00000373480.1	+	6	864	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	KIAA1522_ENST00000401073.2_Missense_Mutation_p.R313Q|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R265Q	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	254										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACGGGTACCCGGGCCCCACCA	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		15092	0.0		0.0	False		,,,				2504	0.001					ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(937-939)cGg>cAg		KIAA1522							33.0	38.0	36.0					1																	33235718		2001	4144	6145	SO:0001583	missense	57648							g.chr1:33235718G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.761G>A	1.37:g.33235718G>A	ENSP00000362579:p.Arg254Gln					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R265Q|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R254Q	p.R313Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1008	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	254					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.938G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102222	0.20632	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.32753	1.44;1.44;1.44	4.39	2.47	0.30058	.	0.232883	0.28476	N	0.015204	T	0.12008	0.0292	N	0.16478	0.41	0.30433	N	0.776965	P;P;P	0.42649	0.614;0.786;0.786	B;B;B	0.30572	0.044;0.117;0.117	T	0.10497	-1.0627	10	0.30078	T	0.28	-13.5309	4.9617	0.14070	0.4613:0.0:0.5387:0.0	.	265;254;313	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	Q	313;265;254	ENSP00000383851:R313Q;ENSP00000362580:R265Q;ENSP00000362579:R254Q	ENSP00000362579:R254Q	R	+	2	0	KIAA1522	33008305	1.000000	0.71417	0.993000	0.49108	0.326000	0.28443	3.025000	0.49681	0.965000	0.38133	0.491000	0.48974	CGG		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			16	19	0	0	0	1	0	16	19				
ADCY8	114	broad.mit.edu	37	8	131916040	131916040	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131916040T>C	ENST00000286355.5	-	7	3981	c.1889A>G	c.(1888-1890)gAt>gGt	p.D630G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACGATATTATCAAAGGGCAG	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1888-1890)gAt>gGt		adenylate cyclase 8 (brain)							108.0	95.0	100.0					8																	131916040		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916040T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1889A>G	8.37:g.131916040T>C	ENSP00000286355:p.Asp630Gly	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630G	p.D630G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3981	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		630						Missense_Mutation	SNP	ENST00000286355.5	37	c.1889A>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612750	0.46631	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80033	-1.03;-1.03;-1.33	6.08	6.08	0.98989	.	0.163770	0.56097	D	0.000021	T	0.72087	0.3417	N	0.08118	0	0.47659	D	0.999487	P;B	0.41784	0.762;0.005	P;B	0.47864	0.559;0.015	T	0.72903	-0.4151	10	0.27082	T	0.32	.	15.8323	0.78764	0.0:0.0:0.0:1.0	.	630;630	E7EVL1;P40145	.;ADCY8_HUMAN	G	630;630;245	ENSP00000286355:D630G;ENSP00000367161:D630G;ENSP00000428010:D245G	ENSP00000286355:D630G	D	-	2	0	ADCY8	131985222	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	5.596000	0.67570	2.333000	0.79357	0.482000	0.46254	GAT		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	22	0	0	0	1	0	10	22				
TRPC4	7223	broad.mit.edu	37	13	38211514	38211514	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38211514G>A	ENST00000379705.3	-	11	3317	c.2460C>T	c.(2458-2460)ggC>ggT	p.G820G	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.G825G|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Silent_p.G647G|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Silent_p.G647G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	820	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCAGGGCAGAGCCATTGCTTA	0.428																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2458-2460)ggC>ggT		transient receptor potential cation channel, subfamily C, member 4							78.0	79.0	78.0					13																	38211514		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211514G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2460C>T	13.37:g.38211514G>A						TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379681.3_Silent_p.G825G|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Silent_p.G647G|TRPC4_ENST00000338947.5_Silent_p.G647G|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_Intron	p.G820G			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3317	-			820			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2460C>T	CCDS9365.1																																																																																				0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	43	0	0	0	1	0	22	43				
GPS2	2874	broad.mit.edu	37	17	7217629	7217629	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7217629G>A	ENST00000380728.2	-	4	598	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000389167.5_Missense_Mutation_p.R100W|GPS2_ENST00000391950.3_Missense_Mutation_p.R100W|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	100					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TTTCGCCTCCGTTTTTCTTCC	0.458																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(298-300)Cgg>Tgg		G protein pathway suppressor 2							145.0	143.0	144.0					17																	7217629		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217629G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.298C>T	17.37:g.7217629G>A	ENSP00000370104:p.Arg100Trp					GPS2_ENST00000389167.5_Missense_Mutation_p.R100W|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.R100W	p.R100W			Q13227	GPS2_HUMAN			4	598	-		Prostate(122;0.157)	100					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.298C>T	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738057	0.49045	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T;T	0.60424	0.19;0.19;0.19	4.69	3.65	0.41850	.	0.000000	0.64402	U	0.000003	T	0.59932	0.2230	N	0.19112	0.55	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.64360	-0.6426	10	0.87932	D	0	.	11.7609	0.51903	0.0:0.0:0.8129:0.1871	.	100	Q13227	GPS2_HUMAN	W	100	ENSP00000438697:R100W;ENSP00000370104:R100W;ENSP00000379841:R100W	ENSP00000319371:R100W	R	-	1	2	GPS2	7158353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.739000	0.47409	2.443000	0.82685	0.591000	0.81541	CGG		0.458	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		40	44	0	0	0	1	0	40	44				
MPP3	4356	broad.mit.edu	37	17	41908673	41908673	+	Missense_Mutation	SNP	C	C	T	rs377594261		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41908673C>T	ENST00000398389.4	-	5	326	c.161G>A	c.(160-162)cGc>cAc	p.R54H	MPP3_ENST00000398393.1_Missense_Mutation_p.R79H	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	54	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TTCATAATAGCGAAGCTTCTC	0.552																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(235-237)cGc>cAc		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		C	HIS/ARG	0,4080		0,0,2040	79.0	88.0	85.0		161	3.9	1.0	17		85	1,8387		0,1,4193	no	missense	MPP3	NM_001932.4	29	0,1,6233	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	54/586	41908673	1,12467	2040	4194	6234	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41908673C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.161G>A	17.37:g.41908673C>T	ENSP00000381425:p.Arg54His					MPP3_ENST00000398389.4_Missense_Mutation_p.R54H	p.R79H			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	3	496	-		Breast(137;0.00394)	54			L27 2.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.236G>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307204	0.40795	0.0	1.19E-4	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.15718	2.4;2.4	4.89	3.92	0.45320	L27, C-terminal (1);L27 (2);	0.055892	0.64402	D	0.000001	T	0.21103	0.0508	L	0.31664	0.95	0.46241	D	0.998941	D;B;P	0.71674	0.998;0.208;0.53	P;B;B	0.58577	0.841;0.177;0.177	T	0.03000	-1.1084	10	0.15499	T	0.54	.	11.877	0.52552	0.0:0.9191:0.0:0.0809	.	79;54;79	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	H	79;54;79	ENSP00000381430:R79H;ENSP00000381425:R54H	ENSP00000348885:R79H	R	-	2	0	MPP3	39264199	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.316000	0.51960	1.435000	0.47434	0.655000	0.94253	CGC		0.552	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		6	32	0	0	0	1	0	6	32				
MCM3	4172	broad.mit.edu	37	6	52141268	52141268	+	Missense_Mutation	SNP	C	C	T	rs146513110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52141268C>T	ENST00000229854.7	-	9	1248	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R345H|MCM3_ENST00000596288.1_Missense_Mutation_p.R436H			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	391	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TTCCAGACGGCGCTCTCCTGG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22130	0.0		0.0	False		,,,				2504	0.0					ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1306-1308)cGc>cAc		minichromosome maintenance complex component 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	44.0	45.0		1172	5.0	1.0	6	dbSNP_134	45	0,8600		0,0,4300	no	missense	MCM3	NM_002388.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	391/809	52141268	1,13005	2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141268C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1172G>A	6.37:g.52141268C>T	ENSP00000229854:p.Arg391His					MCM3_ENST00000229854.7_Missense_Mutation_p.R391H|MCM3_ENST00000419835.2_Missense_Mutation_p.R345H|MCM3_ENST00000476448.1_5'UTR	p.R436H	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			9	1334	-	Lung NSC(77;0.0931)		391			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1307G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.007433	0.75046	2.27E-4	0.0	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06449	3.3;3.3	5.04	5.04	0.67666	ATPase, AAA+ type, core (1);	0.049778	0.85682	D	0.000000	T	0.24005	0.0581	H	0.97131	3.945	0.80722	D	1	D;P	0.54397	0.966;0.683	P;P	0.52758	0.708;0.503	T	0.44528	-0.9322	10	0.54805	T	0.06	-2.5743	18.5596	0.91095	0.0:1.0:0.0:0.0	.	345;391	B4DUQ9;P25205	.;MCM3_HUMAN	H	391;345	ENSP00000229854:R391H;ENSP00000388647:R345H	ENSP00000229854:R391H	R	-	2	0	MCM3	52249227	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.651000	0.83577	2.618000	0.88619	0.655000	0.94253	CGC		0.498	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	8	0	0	0	1	0	5	8				
SSPO	23145	broad.mit.edu	37	7	149482663	149482663	+	RNA	SNP	G	G	A	rs561226364		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149482663G>A	ENST00000378016.2	+	0	3079							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACATTTGACGGACTGGCCTT	0.662																																						ENST00000378016.2																			0													SCO-spondin							24.0	28.0	27.0					7																	149482663		2013	4156	6169			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482663G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149482663G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3079	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7				
ARHGAP32	9743	broad.mit.edu	37	11	128868309	128868309	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128868309C>T	ENST00000310343.9	-	11	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R279H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R4H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R4H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	353					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTTGTTGGACGAGACTTCAT	0.408																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(1057-1059)cGt>cAt		Rho GTPase activating protein 32							135.0	121.0	126.0					11																	128868309		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128868309C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1058G>A	11.37:g.128868309C>T	ENSP00000310561:p.Arg353His					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R4H|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R279H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R4H	p.R353H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			11	1057	-			353					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.1058G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477723	0.96291	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.19250	2.66;2.16;2.63;2.16	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.81497	2.545	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.396	D;D;B	0.67725	0.953;0.939;0.077	T	0.50039	-0.8874	10	0.72032	D	0.01	.	20.3446	0.98786	0.0:1.0:0.0:0.0	.	287;353;171	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	H	353;4;279;287;4;63	ENSP00000310561:R353H;ENSP00000376425:R4H;ENSP00000432468:R279H;ENSP00000432862:R4H	ENSP00000310561:R353H	R	-	2	0	ARHGAP32	128373519	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.276000	0.78559	2.906000	0.99361	0.655000	0.94253	CGT		0.408	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		27	58	0	0	0	1	0	27	58				
TRAPPC9	83696	broad.mit.edu	37	8	141461101	141461101	+	Silent	SNP	G	G	A	rs377446017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141461101G>A	ENST00000438773.2	-	2	505	c.372C>T	c.(370-372)atC>atT	p.I124I	TRAPPC9_ENST00000389327.3_Silent_p.I124I|TRAPPC9_ENST00000389328.4_Silent_p.I222I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	124					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCTGCTCCACGATCTCCCCCT	0.572																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(664-666)atC>atT		trafficking protein particle complex 9		G	,	0,4406		0,0,2203	66.0	58.0	61.0		372,666	-6.7	0.0	8		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	124/1149,222/1247	141461101	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461101G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.372C>T	8.37:g.141461101G>A						TRAPPC9_ENST00000389327.3_Silent_p.I124I|TRAPPC9_ENST00000438773.2_Silent_p.I124I	p.I222I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	680	-			124					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.666C>T	CCDS55278.1																																																																																				0.572	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		19	31	0	0	0	1	0	19	31				
ZNF638	27332	broad.mit.edu	37	2	71650194	71650194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71650194G>A	ENST00000409544.1	+	22	4180	c.3550G>A	c.(3550-3552)Gct>Act	p.A1184T	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.A124T|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1184T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1184	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTAGCATCCGCTTCAGTCAG	0.403																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3550-3552)Gct>Act		zinc finger protein 638							100.0	99.0	99.0					2																	71650194		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71650194G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3550G>A	2.37:g.71650194G>A	ENSP00000386433:p.Ala1184Thr					ZNF638_ENST00000409407.1_Missense_Mutation_p.A124T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1184T	p.A1184T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	4180	+			1184			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3550G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.446538	0.00178	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.31510	1.49;1.49;1.97	5.55	0.507	0.16967	.	0.469690	0.20124	N	0.098730	T	0.09202	0.0227	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.06494	T	0.89	-1.1432	8.213	0.31494	0.6577:0.0:0.3423:0.0	.	1184;1184;1184	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	T	763;1184;1184;124;124	ENSP00000264447:A1184T;ENSP00000386433:A1184T;ENSP00000386813:A124T	ENSP00000264447:A1184T	A	+	1	0	ZNF638	71503702	0.001000	0.12720	0.103000	0.21229	0.021000	0.10359	0.505000	0.22642	0.133000	0.18654	-0.294000	0.09567	GCT		0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		34	36	0	0	0	1	0	34	36				
SLC39A5	283375	broad.mit.edu	37	12	56630996	56630996	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56630996G>A	ENST00000266980.4	+	10	1644	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	SLC39A5_ENST00000454355.2_Missense_Mutation_p.V451M|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	451					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGAGCCTCGTGTCTGGAGC	0.642																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1351-1353)Gtg>Atg		solute carrier family 39 (zinc transporter), member 5							45.0	49.0	48.0					12																	56630996		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56630996G>A		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1351G>A	12.37:g.56630996G>A	ENSP00000266980:p.Val451Met					SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.V451M	p.V451M	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			10	1644	+			451					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.1351G>A	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175780	0.57692	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.53423	0.62;0.62	4.79	4.79	0.61399	.	0.000000	0.51477	D	0.000093	T	0.62392	0.2424	L	0.55834	1.745	0.53688	D	0.999979	D	0.89917	1.0	D	0.72982	0.979	T	0.64063	-0.6495	10	0.72032	D	0.01	-8.4486	13.4725	0.61288	0.0:0.1584:0.8416:0.0	.	451	Q6ZMH5	S39A5_HUMAN	M	451	ENSP00000405360:V451M;ENSP00000266980:V451M	ENSP00000266980:V451M	V	+	1	0	SLC39A5	54917263	1.000000	0.71417	0.974000	0.42286	0.545000	0.35147	1.550000	0.36223	2.669000	0.90835	0.561000	0.74099	GTG		0.642	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		27	38	0	0	0	1	0	27	38				
MYH6	4624	broad.mit.edu	37	14	23855661	23855661	+	Missense_Mutation	SNP	G	G	A	rs201683868		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23855661G>A	ENST00000356287.3	-	32	4851	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	MYH6_ENST00000405093.3_Missense_Mutation_p.R1608C|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGCGGCTGCGTGTCTCTGCA	0.617																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4822-4824)Cgc>Tgc		myosin, heavy chain 6, cardiac muscle, alpha		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	167.0	155.0	159.0		4822	3.6	0.9	14		159	0,8600		0,0,4300	no	missense	MYH6	NM_002471.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1608/1940	23855661	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855661G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4822C>T	14.37:g.23855661G>A	ENSP00000348634:p.Arg1608Cys					MYH6_ENST00000356287.3_Missense_Mutation_p.R1608C	p.R1608C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4892	-	all_cancers(95;2.54e-05)		1608					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4822C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.301434	0.60195	2.27E-4	0.0	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82344	-1.6;-1.6	4.5	3.6	0.41247	Myosin tail (1);	.	.	.	.	D	0.92506	0.7620	M	0.93678	3.445	0.51482	D	0.999923	D	0.89917	1.0	D	0.76575	0.988	D	0.93522	0.6862	9	0.87932	D	0	.	12.4588	0.55721	0.0:0.0:0.57:0.43	.	1608	P13533	MYH6_HUMAN	C	1608	ENSP00000386041:R1608C;ENSP00000348634:R1608C	ENSP00000348634:R1608C	R	-	1	0	MYH6	22925501	0.742000	0.28228	0.897000	0.35233	0.891000	0.51852	1.019000	0.30014	0.990000	0.38787	0.561000	0.74099	CGC		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	110	0	0	0	1	0	4	110				
GGT6	124975	broad.mit.edu	37	17	4461665	4461665	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4461665G>A	ENST00000574154.1	-	4	1423	c.1127C>T	c.(1126-1128)gCa>gTa	p.A376V	GGT6_ENST00000381550.3_Missense_Mutation_p.A382V|GGT6_ENST00000573591.1_Missense_Mutation_p.A228V|MYBBP1A_ENST00000381556.2_5'Flank|MYBBP1A_ENST00000254718.4_5'Flank|GGT6_ENST00000301395.3_Missense_Mutation_p.A344V			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	376					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGACAGGTGTGCAGAGCCAAA	0.642																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1030-1032)gCa>gTa		gamma-glutamyltransferase 6							47.0	50.0	49.0					17																	4461665		2203	4300	6503	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461665G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.1127C>T	17.37:g.4461665G>A	ENSP00000458307:p.Ala376Val					GGT6_ENST00000574154.1_Missense_Mutation_p.A376V|GGT6_ENST00000573591.1_Missense_Mutation_p.A228V|GGT6_ENST00000381550.3_Missense_Mutation_p.A382V	p.A344V	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	1090	-			376					B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.1031C>T	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763802	0.49574	.	.	ENSG00000167741	ENST00000381550;ENST00000301395;ENST00000414312	T	0.06687	3.27	4.86	2.85	0.33270	.	0.279630	0.30235	N	0.010084	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	P;B;P	0.39157	0.662;0.432;0.531	B;B;B	0.42738	0.396;0.307;0.275	T	0.27020	-1.0086	10	0.56958	D	0.05	-26.5032	6.8595	0.24060	0.0:0.7133:0.1878:0.099	.	382;376;344	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	V	376;344;228	ENSP00000301395:A344V	ENSP00000301395:A344V	A	-	2	0	GGT6	4408414	0.001000	0.12720	0.179000	0.23059	0.726000	0.41606	1.052000	0.30429	0.580000	0.29522	-0.171000	0.13296	GCA		0.642	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		15	26	0	0	0	1	0	15	26				
POLA2	23649	broad.mit.edu	37	11	65047044	65047044	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65047044C>T	ENST00000265465.3	+	7	1222	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	POLA2_ENST00000541089.1_Missense_Mutation_p.L23F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	231					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGGCAGCGAACTCAAGGAACA	0.358																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(691-693)Ctc>Ttc		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						143.0	136.0	139.0					11																	65047044		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65047044C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.691C>T	11.37:g.65047044C>T	ENSP00000265465:p.Leu231Phe					POLA2_ENST00000541089.1_Missense_Mutation_p.L23F	p.L231F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			7	1222	+			231					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.691C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330925	0.81690	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T	0.25749	1.78	5.76	5.76	0.90799	DNA polymerase alpha, subunit B N-terminal (1);	0.064956	0.64402	D	0.000009	T	0.50684	0.1630	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	T	0.31475	-0.9942	10	0.28530	T	0.3	-24.6231	17.464	0.87627	0.0:1.0:0.0:0.0	.	23;231	B4DNB4;Q14181	.;DPOA2_HUMAN	F	231;23	ENSP00000265465:L231F	ENSP00000265465:L231F	L	+	1	0	POLA2	64803620	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.608000	0.54109	2.724000	0.93272	0.491000	0.48974	CTC		0.358	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		61	69	0	0	0	1	0	61	69				
SMAD4	4089	broad.mit.edu	37	18	48591850	48591850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48591850C>T	ENST00000342988.3	+	9	1551	c.1013C>T	c.(1012-1014)aCa>aTa	p.T338I	SMAD4_ENST00000588745.1_Missense_Mutation_p.T242I|SMAD4_ENST00000398417.2_Missense_Mutation_p.T338I	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	338	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTAGGAGAGACATTTAAGGTT	0.433																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1012-1014)aCa>aTa		SMAD family member 4							273.0	234.0	247.0					18																	48591850		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591850C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1013C>T	18.37:g.48591850C>T	ENSP00000341551:p.Thr338Ile					SMAD4_ENST00000588745.1_Missense_Mutation_p.T242I|SMAD4_ENST00000398417.2_Missense_Mutation_p.T338I	p.T338I	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1551	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	338			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1013C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705303	0.89018	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97232	-4.3;-4.3	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.95809	0.8636	L	0.50847	1.595	0.80722	D	1	P	0.45902	0.868	B	0.42771	0.397	D	0.94766	0.7940	10	0.33141	T	0.24	.	19.2492	0.93917	0.0:1.0:0.0:0.0	.	338	Q13485	SMAD4_HUMAN	I	338	ENSP00000341551:T338I;ENSP00000381452:T338I	ENSP00000341551:T338I	T	+	2	0	SMAD4	46845848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.672000	0.83956	2.840000	0.97914	0.655000	0.94253	ACA		0.433	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		17	79	0	0	0	1	0	17	79				
GJB4	127534	broad.mit.edu	37	1	35227553	35227553	+	Missense_Mutation	SNP	C	C	T	rs568452902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35227553C>T	ENST00000339480.1	+	2	1068	c.698C>T	c.(697-699)aCg>aTg	p.T233M	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	233					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTACCCGATACGTGCCCACCA	0.617																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(697-699)aCg>aTg		gap junction protein, beta 4, 30.3kDa							53.0	47.0	49.0					1																	35227553		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227553C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.698C>T	1.37:g.35227553C>T	ENSP00000345868:p.Thr233Met					RP1-34M23.5_ENST00000542839.1_RNA	p.T233M	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	1068	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	233					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.698C>T	CCDS383.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846138	0.32606	.	.	ENSG00000189433	ENST00000339480	D	0.97791	-4.54	5.61	2.59	0.31030	.	4.043790	0.00848	N	0.001811	D	0.93109	0.7806	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.12156	0.007	D	0.87324	0.2320	10	0.48119	T	0.1	.	6.0984	0.20033	0.0:0.6315:0.1384:0.2302	.	233	Q9NTQ9	CXB4_HUMAN	M	233	ENSP00000345868:T233M	ENSP00000345868:T233M	T	+	2	0	GJB4	35000140	0.001000	0.12720	0.006000	0.13384	0.025000	0.11179	1.261000	0.32980	0.754000	0.32968	0.556000	0.70494	ACG		0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		15	24	0	0	0	1	0	15	24				
CCDC82	79780	broad.mit.edu	37	11	96117750	96117750	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:96117750C>T	ENST00000278520.5	-	3	590	c.162G>A	c.(160-162)gaG>gaA	p.E54E	CCDC82_ENST00000423339.2_Silent_p.E54E|CCDC82_ENST00000542662.1_Silent_p.E54E|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	54										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CACTATCAAGCTCTTCATCAC	0.353																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(160-162)gaG>gaA		coiled-coil domain containing 82							143.0	131.0	135.0					11																	96117750		2201	4296	6497	SO:0001819	synonymous_variant	79780						protein binding	g.chr11:96117750C>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.162G>A	11.37:g.96117750C>T						CCDC82_ENST00000542662.1_Silent_p.E54E|CCDC82_ENST00000423339.2_Silent_p.E54E	p.E54E			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	590	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	54					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	c.162G>A	CCDS8307.1																																																																																				0.353	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		11	43	0	0	0	1	0	11	43				
TTN	7273	broad.mit.edu	37	2	179534361	179534361	+	Intron	SNP	G	G	A	rs375507473		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179534361G>A	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R11810C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCTTCACGAACTTTTTCT	0.333																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35428-35430)Cgt>Tgt		titin		G	,,,	0,1752		0,0,876	256.0	264.0	262.0		,,,	3.9	0.8	2		262	1,3981		0,1,1990	no	intron,intron,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,2866	AA,AG,GG		0.0251,0.0,0.0174	,,,	,,,	179534361	1,5733	876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179534361G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+583C>T	2.37:g.179534361G>A						TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R11810C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		158	35652	-			9933			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35428C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.770806|2.770806	0.49680|0.49680	0.0|0.0	2.51E-4|2.51E-4	ENSG00000155657|ENSG00000155657	ENST00000541862|ENST00000448510	.|.	.|.	.|.	5.71|5.71	3.88|3.88	0.44766|0.44766	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.27569|0.27569	N|N	0.949934|0.949934	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21861|0.21861	-1.0233|-1.0233	5|4	0.37606|.	T|.	0.19|.	.|.	7.2016|7.2016	0.25885|0.25885	0.0677:0.1244:0.679:0.1289|0.0677:0.1244:0.679:0.1289	.|.	.|.	.|.	.|.	C|L	112|167	.|.	ENSP00000445986:R112C|.	R|S	-|-	1|2	0|0	TTN|TTN	179242606|179242606	0.001000|0.001000	0.12720|0.12720	0.819000|0.819000	0.32651|0.32651	0.977000|0.977000	0.68977|0.68977	0.911000|0.911000	0.28584|0.28584	0.738000|0.738000	0.32606|0.32606	0.467000|0.467000	0.42956|0.42956	CGT|TCG		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	73	0	0	0	1	0	39	73				
TIMM50	92609	broad.mit.edu	37	19	39977113	39977113	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39977113A>G	ENST00000607714.1	+	8	696	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	TIMM50_ENST00000544017.1_Missense_Mutation_p.Y112C|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Missense_Mutation_p.Y328C			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	225	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCACAAGATACATGGATGGA	0.587																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(982-984)tAc>tGc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							81.0	72.0	75.0					19																	39977113		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39977113A>G	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.674A>G	19.37:g.39977113A>G	ENSP00000475531:p.Tyr225Cys					TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Missense_Mutation_p.Y225C|TIMM50_ENST00000544017.1_Missense_Mutation_p.Y112C	p.Y328C	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		8	1116	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		225					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.983A>G		.	.	.	.	.	.	.	.	.	.	A	21.2	4.114539	0.77210	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.17691	2.26;2.26	4.93	4.93	0.64822	NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.732	D;P	0.97110	1.0;0.528	T	0.07829	-1.0752	9	.	.	.	-16.2476	13.6787	0.62469	1.0:0.0:0.0:0.0	.	225;328	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	C	328;112	ENSP00000318115:Y328C;ENSP00000445806:Y112C	.	Y	+	2	0	TIMM50	44668953	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.633000	0.90999	2.059000	0.61396	0.379000	0.24179	TAC		0.587	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		21	33	0	0	0	1	0	21	33				
ESPN	83715	broad.mit.edu	37	1	6488405	6488405	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6488405C>T	ENST00000377828.1	+	2	582	c.414C>T	c.(412-414)ggC>ggT	p.G138G	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	138					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CAGACATGGGCGCCCTGCCTA	0.637																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(412-414)ggC>ggT		espin							41.0	47.0	45.0					1																	6488405		2203	4300	6503	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6488405C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.414C>T	1.37:g.6488405C>T							p.G138G	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	2	582	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	138					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.414C>T	CCDS70.1																																																																																				0.637	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		16	27	0	0	0	1	0	16	27				
ITGB8	3696	broad.mit.edu	37	7	20449610	20449610	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20449610G>A	ENST00000222573.4	+	14	2984	c.2300G>A	c.(2299-2301)tGc>tAc	p.C767Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.C632Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	767					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTTTCAGGTGCAACTTCTAA	0.338																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(2299-2301)tGc>tAc		integrin, beta 8							34.0	38.0	37.0					7																	20449610		2202	4297	6499	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20449610G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.2300G>A	7.37:g.20449610G>A	ENSP00000222573:p.Cys767Tyr					ITGB8_ENST00000537992.1_Missense_Mutation_p.C632Y	p.C767Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			14	2984	+			767					A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.2300G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710598	0.68730	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.46451	0.87;0.87	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.60843	0.2300	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.60016	-0.7345	10	0.87932	D	0	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	767	P26012	ITB8_HUMAN	Y	632;767	ENSP00000441561:C632Y;ENSP00000222573:C767Y	ENSP00000222573:C767Y	C	+	2	0	ITGB8	20416135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.473000	0.73572	2.835000	0.97688	0.591000	0.81541	TGC		0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		5	34	0	0	0	1	0	5	34				
ADARB1	104	broad.mit.edu	37	21	46624623	46624623	+	Silent	SNP	C	C	A	rs141463450	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46624623C>A	ENST00000360697.3	+	8	1854	c.1839C>A	c.(1837-1839)ctC>ctA	p.L613L	ADARB1_ENST00000389863.4_Silent_p.L613L|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.L573L|ADARB1_ENST00000539173.1_Silent_p.L613L			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	613	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCACCTCTCTACACCCTCA	0.478																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1837-1839)ctC>ctA		adenosine deaminase, RNA-specific, B1							120.0	103.0	109.0					21																	46624623		2203	4300	6503	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624623C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1839C>A	21.37:g.46624623C>A						ADARB1_ENST00000389863.4_Silent_p.L613L|ADARB1_ENST00000360697.3_Silent_p.L613L|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.L573L	p.L613L	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2274	+			613			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.1839C>A	CCDS33589.1																																																																																				0.478	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		19	9	1	0	1.55795e-14	1	1.69983e-14	19	9				
NDUFS3	4722	broad.mit.edu	37	11	47603682	47603682	+	Missense_Mutation	SNP	C	C	T	rs146407178		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47603682C>T	ENST00000263774.4	+	5	506	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	142					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.R142C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	CTCACGGATCCGTGTGAAGAC	0.517																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			1	Substitution - Missense(1)	p.R142C(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(424-426)Cgt>Tgt		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)	C	CYS/ARG	0,4402		0,0,2201	175.0	161.0	166.0		424	5.2	1.0	11	dbSNP_134	166	1,8595	1.2+/-3.3	0,1,4297	no	missense	NDUFS3	NM_004551.2	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	142/265	47603682	1,12997	2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603682C>T	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.424C>T	11.37:g.47603682C>T	ENSP00000263774:p.Arg142Cys					NDUFS3_ENST00000533507.1_3'UTR	p.R142C	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			5	506	+			142					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.424C>T	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912382	0.92178	0.0	1.16E-4	ENSG00000213619	ENST00000263774	D	0.87256	-2.23	6.08	5.17	0.71159	NADH:ubiquinone oxidoreductase, 30kDa subunit (2);	0.044975	0.85682	D	0.000000	D	0.92808	0.7713	M	0.93062	3.375	0.80722	D	1	P;D	0.56968	0.947;0.978	P;P	0.51453	0.529;0.67	D	0.94308	0.7543	10	0.87932	D	0	-17.7513	15.3227	0.74135	0.0:0.9332:0.0:0.0668	.	142;68	O75489;Q9UF24	NDUS3_HUMAN;.	C	142	ENSP00000263774:R142C	ENSP00000263774:R142C	R	+	1	0	NDUFS3	47560258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.265000	0.78442	1.580000	0.49851	0.655000	0.94253	CGT		0.517	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		29	43	0	0	0	1	0	29	43				
TRAV17	28666	broad.mit.edu	37	14	22466279	22466279	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22466279G>A	ENST00000390445.2	+	0	356									T cell receptor alpha variable 17																		ATTTTAATACGTTCAAATGAA	0.408																																						ENST00000390445.2																			0																				67.0	66.0	67.0					14																	22466279		1872	4106	5978			0							g.chr14:22466279G>A	AE000660		14q11.2	2012-02-07			ENSG00000211797	ENSG00000211797		"""T cell receptors / TRA locus"""	12113	other	T cell receptor gene						8188290, 8662074	Standard	NG_001332		Approved	TCRAV17S1, TCRAV3S1			OTTHUMG00000170643		14.37:g.22466279G>A														0	356	+									RNA	SNP	ENST00000390445.2	37																																																																																						0.408	TRAV17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409891.1	NG_001332		12	25	0	0	0	1	0	12	25				
TRERF1	55809	broad.mit.edu	37	6	42196272	42196272	+	Silent	SNP	G	G	A	rs150908395		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42196272G>A	ENST00000372922.4	-	18	3976	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000541110.1_Silent_p.P1158P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602																																						ENST00000541110.1																			1	Substitution - coding silent(1)	p.P1138P(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3472-3474)ccC>ccT		transcriptional regulating factor 1		G		0,4406		0,0,2203	141.0	165.0	157.0		3414	-8.8	0.2	6	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRERF1	NM_033502.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1138/1201	42196272	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196272G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3414C>T	6.37:g.42196272G>A						TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000372917.4_Silent_p.P1067P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000354325.2_Silent_p.P1055P	p.P1158P			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4042	-	Colorectal(47;0.196)		1138			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.3474C>T	CCDS4867.1																																																																																				0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	272	0	0	0	1	0	7	272				
REXO1	57455	broad.mit.edu	37	19	1816553	1816553	+	Silent	SNP	C	C	T	rs551809507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1816553C>T	ENST00000170168.4	-	14	3427	c.3333G>A	c.(3331-3333)acG>acA	p.T1111T	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1111	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCAGCCTCCGTCACCCCCG	0.667																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3331-3333)acG>acA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							48.0	40.0	43.0					19																	1816553		2202	4299	6501	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816553C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3333G>A	19.37:g.1816553C>T							p.T1111T	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_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)	14	3427	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1111			Exonuclease.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.3333G>A	CCDS32866.1																																																																																				0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		11	25	0	0	0	1	0	11	25				
BAG6	7917	broad.mit.edu	37	6	31608180	31608180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31608180C>T	ENST00000375964.6	-	22	3343	c.3030G>A	c.(3028-3030)tgG>tgA	p.W1010*	BAG6_ENST00000362049.6_Nonsense_Mutation_p.W1004*|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Nonsense_Mutation_p.W1004*|BAG6_ENST00000404765.2_Nonsense_Mutation_p.W1040*|BAG6_ENST00000375976.4_Nonsense_Mutation_p.W1004*	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1010					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTGCAGCTGCCCAAGGTTCTG	0.547																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(3118-3120)tgG>tgA		BCL2-associated athanogene 6							121.0	143.0	135.0					6																	31608180		1511	2709	4220	SO:0001587	stop_gained	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608180C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3030G>A	6.37:g.31608180C>T	ENSP00000365131:p.Trp1010*					BAG6_ENST00000375976.4_Nonsense_Mutation_p.W1004*|BAG6_ENST00000362049.6_Nonsense_Mutation_p.W1004*|BAG6_ENST00000211379.5_Nonsense_Mutation_p.W1004*|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375964.6_Nonsense_Mutation_p.W1010*	p.W1040*			P46379	BAG6_HUMAN			23	3409	-			1010					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Nonsense_Mutation	SNP	ENST00000375964.6	37	c.3120G>A	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.644768|9.644768	0.99227|0.99227	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000441793|ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049	.|.	.|.	.|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.16471|.	0.0396|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07177|.	-1.0786|.	3|.	.|0.02654	.|T	.|1	.|.	13.585|13.585	0.61926|0.61926	0.0:0.9238:0.0:0.0762|0.0:0.9238:0.0:0.0762	.|.	.|.	.|.	.|.	E|X	153|1004;1010;1004;1040;1004	.|.	.|ENSP00000211379:W1004X	G|W	-|-	2|3	0|0	BAG6|BAG6	31716159|31716159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.051000|3.051000	0.49885|0.49885	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.547	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		37	53	0	0	0	1	0	37	53				
OLFML2A	169611	broad.mit.edu	37	9	127549365	127549365	+	Missense_Mutation	SNP	C	C	T	rs377592190		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127549365C>T	ENST00000373580.3	+	2	202	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	68					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCGCAGTGGGCGGGCACGCGT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17586	0.001		0.0	False		,,,				2504	0.0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(202-204)Cgg>Tgg		olfactomedin-like 2A		C	TRP/ARG	0,4340		0,0,2170	50.0	57.0	55.0		202	4.8	1.0	9		55	1,8541		0,1,4270	no	missense	OLFML2A	NM_182487.2	101	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	68/653	127549365	1,12881	2170	4271	6441	SO:0001583	missense	169611							g.chr9:127549365C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.202C>T	9.37:g.127549365C>T	ENSP00000362682:p.Arg68Trp						p.R68W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	202	+			68					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.202C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019386	0.75275	0.0	1.17E-4	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.46819	0.86;0.86	5.73	4.76	0.60689	.	0.216061	0.46442	D	0.000300	T	0.54886	0.1886	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59221	0.854;0.634	T	0.56226	-0.8014	10	0.72032	D	0.01	.	10.8968	0.47027	0.3449:0.6551:0.0:0.0	.	68;68	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	W	68	ENSP00000336425:R68W;ENSP00000362682:R68W	ENSP00000336425:R68W	R	+	1	2	OLFML2A	126589186	1.000000	0.71417	0.991000	0.47740	0.308000	0.27856	3.464000	0.53057	2.699000	0.92147	0.655000	0.94253	CGG		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		21	25	0	0	0	1	0	21	25				
MTOR	2475	broad.mit.edu	37	1	11190690	11190690	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11190690T>C	ENST00000361445.4	-	39	5585	c.5509A>G	c.(5509-5511)Act>Gct	p.T1837A	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.T42A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1837	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	gtggtggcagtggcggccgtg	0.632																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5509-5511)Act>Gct		mechanistic target of rapamycin (serine/threonine kinase)							82.0	62.0	69.0					1																	11190690		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11190690T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5509A>G	1.37:g.11190690T>C	ENSP00000354558:p.Thr1837Ala					MTOR_ENST00000376838.1_Missense_Mutation_p.T42A	p.T1837A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			39	5585	-			1837			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5509A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.693097	0.00731	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.08984	3.27;3.03	4.01	2.85	0.33270	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.346611	0.21193	N	0.078608	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	P	0.38767	0.646	P	0.58928	0.848	T	0.35871	-0.9771	10	0.02654	T	1	-9.8375	6.516	0.22248	0.2252:0.0:0.0:0.7748	.	1837	P42345	MTOR_HUMAN	A	1837;42	ENSP00000354558:T1837A;ENSP00000366034:T42A	ENSP00000354558:T1837A	T	-	1	0	MTOR	11113277	0.938000	0.31826	0.119000	0.21687	0.016000	0.09150	0.900000	0.28431	0.839000	0.34971	0.482000	0.46254	ACT		0.632	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		7	13	0	0	0	1	0	7	13				
KRTAP13-2	337959	broad.mit.edu	37	21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																						ENST00000399889.2																			1	Substitution - Missense(1)	p.T94M(1)	kidney(1)	endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(280-282)aCg>aTg		keratin associated protein 13-2							62.0	61.0	62.0					21																	31744251		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744251G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met						p.T94M	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	306	-			94			5 X 10 AA approximate repeats.			Missense_Mutation	SNP	ENST00000399889.2	37	c.281C>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			3	12	0	0	0	1	0	3	12				
TMEM38A	79041	broad.mit.edu	37	19	16791335	16791335	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16791335G>A	ENST00000187762.2	+	3	500	c.409G>A	c.(409-411)Gcc>Acc	p.A137T		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	137	His-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A137T(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CATCCATCACGCCCATCACCA	0.522																																						ENST00000187762.2																			1	Substitution - Missense(1)	p.A137T(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(409-411)Gcc>Acc		transmembrane protein 38A							132.0	121.0	125.0					19																	16791335		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791335G>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.409G>A	19.37:g.16791335G>A	ENSP00000187762:p.Ala137Thr						p.A137T	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	500	+			137			His-rich.		A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.409G>A	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	32	5.170054	0.94768	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86168	0.1598	9	0.87932	D	0	-19.9997	17.5463	0.87863	0.0:0.0:1.0:0.0	.	137	Q9H6F2	TM38A_HUMAN	T	137	.	ENSP00000187762:A137T	A	+	1	0	TMEM38A	16652335	1.000000	0.71417	0.701000	0.30321	0.839000	0.47603	9.695000	0.98691	2.459000	0.83118	0.561000	0.74099	GCC		0.522	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		7	98	0	0	0	1	0	7	98				
NRCAM	4897	broad.mit.edu	37	7	107820829	107820829	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107820829G>A	ENST00000425651.2	-	22	2688	c.2689C>T	c.(2689-2691)Cgt>Tgt	p.R897C	NRCAM_ENST00000379028.3_Missense_Mutation_p.R897C|NRCAM_ENST00000413765.2_Missense_Mutation_p.R878C|NRCAM_ENST00000379024.4_Missense_Mutation_p.R878C|NRCAM_ENST00000379022.4_Missense_Mutation_p.R897C|NRCAM_ENST00000351718.4_Missense_Mutation_p.R881C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	897	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAATGTGACGTCTGTTTCTT	0.448																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2689-2691)Cgt>Tgt		neuronal cell adhesion molecule							87.0	78.0	81.0					7																	107820829		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107820829G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2689C>T	7.37:g.107820829G>A	ENSP00000401244:p.Arg897Cys					NRCAM_ENST00000413765.2_Missense_Mutation_p.R878C|NRCAM_ENST00000379022.4_Missense_Mutation_p.R897C|NRCAM_ENST00000425651.2_Missense_Mutation_p.R897C|NRCAM_ENST00000351718.4_Missense_Mutation_p.R881C|NRCAM_ENST00000379024.4_Missense_Mutation_p.R878C	p.R897C			Q92823	NRCAM_HUMAN			25	3159	-			897			Fibronectin type-III 3.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2689C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507050	0.44558	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.60920	0.15;0.44;0.16;0.21;0.15;0.19	5.88	5.88	0.94601	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.307373	0.37393	N	0.002104	T	0.68550	0.3013	L	0.46885	1.475	0.35584	D	0.806501	D;D;P;D;D	0.76494	0.997;0.999;0.947;0.999;0.999	P;D;D;P;D	0.68765	0.901;0.96;0.944;0.849;0.951	T	0.75334	-0.3354	10	0.62326	D	0.03	.	13.6392	0.62239	0.0:0.0:0.7296:0.2703	.	897;878;878;881;897	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	C	897;897;878;897;881;878;897;897	ENSP00000368314:R897C;ENSP00000407858:R878C;ENSP00000325269:R881C;ENSP00000368310:R878C;ENSP00000401244:R897C;ENSP00000368308:R897C	ENSP00000325269:R881C	R	-	1	0	NRCAM	107608065	0.799000	0.28903	0.885000	0.34714	0.474000	0.32979	2.611000	0.46334	2.792000	0.96026	0.557000	0.71058	CGT		0.448	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		5	41	0	0	0	1	0	5	41				
ZCCHC2	54877	broad.mit.edu	37	18	60241838	60241838	+	Missense_Mutation	SNP	G	G	A	rs373529654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60241838G>A	ENST00000269499.5	+	13	2942	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A521T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	842						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTGAGCATCGCATCACCAAA	0.507																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2524-2526)Gca>Aca		zinc finger, CCHC domain containing 2							140.0	141.0	141.0					18																	60241838		2068	4206	6274	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241838G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2524G>A	18.37:g.60241838G>A	ENSP00000269499:p.Ala842Thr					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A521T	p.A842T	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2942	+			842					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2524G>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106026	0.56291	.	.	ENSG00000141664	ENST00000269499	T	0.26373	1.74	5.41	5.41	0.78517	.	0.187364	0.37623	N	0.002001	T	0.15392	0.0371	N	0.08118	0	0.28805	N	0.898568	B	0.29766	0.256	B	0.23150	0.044	T	0.12993	-1.0526	10	0.56958	D	0.05	-7.1619	17.3993	0.87455	0.0:0.0:1.0:0.0	.	842	Q9C0B9	ZCHC2_HUMAN	T	842	ENSP00000269499:A842T	ENSP00000269499:A842T	A	+	1	0	ZCCHC2	58392818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.969000	0.63735	2.534000	0.85438	0.655000	0.94253	GCA		0.507	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		47	20	0	0	0	1	0	47	20				
MAGEA1	4100	broad.mit.edu	37	X	152482197	152482197	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152482197C>T	ENST00000356661.5	-	3	1032	c.814G>A	c.(814-816)Gct>Act	p.A272T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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)			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)					CTGGTTTCAGCGAGGGCCCTT	0.537																																						ENST00000356661.5																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(814-816)Gct>Act		melanoma antigen family A, 1 (directs expression of antigen MZ2-E)							127.0	121.0	123.0					X																	152482197		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482197C>T		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.814G>A	X.37:g.152482197C>T	ENSP00000349085:p.Ala272Thr						p.A272T	NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN			3	1032	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		272			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.814G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	7.137	0.581105	0.13686	.	.	ENSG00000198681	ENST00000356661	T	0.05319	3.46	1.28	0.297	0.15762	.	1.045490	0.07457	N	0.899934	T	0.10637	0.0260	M	0.81497	2.545	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.35126	-0.9801	10	0.49607	T	0.09	.	5.9974	0.19501	0.0:0.7751:0.0:0.2249	.	272	P43355	MAGA1_HUMAN	T	272	ENSP00000349085:A272T	ENSP00000349085:A272T	A	-	1	0	MAGEA1	152135391	0.001000	0.12720	0.127000	0.21898	0.024000	0.10985	-1.032000	0.03574	-0.377000	0.07930	-1.085000	0.02201	GCT		0.537	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		9	78	0	0	0	1	0	9	78				
FZD7	8324	broad.mit.edu	37	2	202900064	202900064	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202900064G>A	ENST00000286201.1	+	1	755	c.694G>A	c.(694-696)Gcc>Acc	p.A232T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	232					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGATTGTGGCGCCCCGTGCGA	0.682											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(694-696)Gcc>Acc		frizzled family receptor 7							22.0	23.0	23.0					2																	202900064		2196	4289	6485	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900064G>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.694G>A	2.37:g.202900064G>A	ENSP00000286201:p.Ala232Thr		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.A232T	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	755	+			232					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.694G>A	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818118	0.50633	.	.	ENSG00000155760	ENST00000286201	T	0.76709	-1.04	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.67397	2.05	0.80722	D	1	D	0.58970	0.984	P	0.48304	0.573	T	0.78612	-0.2136	10	0.26408	T	0.33	.	18.5304	0.90990	0.0:0.0:1.0:0.0	.	232	O75084	FZD7_HUMAN	T	232	ENSP00000286201:A232T	ENSP00000286201:A232T	A	+	1	0	FZD7	202608309	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.607000	0.98328	2.607000	0.88179	0.563000	0.77884	GCC		0.682	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		19	26	0	0	0	1	0	19	26				
RYR3	6263	broad.mit.edu	37	15	33927871	33927871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33927871C>T	ENST00000389232.4	+	26	3302	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1078*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1078	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGGGTAGAGCGATCTTATGC	0.517																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3232-3234)Cga>Tga		ryanodine receptor 3							71.0	72.0	72.0					15																	33927871		2062	4237	6299	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927871C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3232C>T	15.37:g.33927871C>T	ENSP00000373884:p.Arg1078*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1078*	p.R1078*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3302	+		all_lung(180;7.18e-09)	1078			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.3232C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	42	9.500005	0.99189	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.32	3.43	0.39272	.	0.318283	0.29987	N	0.010698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	8.0028	0.30308	0.3974:0.531:0.0:0.0716	.	.	.	.	X	1078	.	ENSP00000354735:R1078X	R	+	1	2	RYR3	31715163	0.793000	0.28825	0.997000	0.53966	0.940000	0.58332	0.343000	0.19944	0.798000	0.33994	-0.182000	0.12963	CGA		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	14	0	0	0	1	0	6	14				
PYGB	5834	broad.mit.edu	37	20	25276269	25276269	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25276269A>G	ENST00000216962.4	+	19	2452	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	781					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TATGAAGCCTACATGCAGTGC	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2341-2343)tAc>tGc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						85.0	82.0	83.0					20																	25276269		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25276269A>G		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2342A>G	20.37:g.25276269A>G	ENSP00000216962:p.Tyr781Cys					PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	p.Y781C	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			19	2452	+			781					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.2342A>G	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.95|15.95	2.982843|2.982843	0.53827|0.53827	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000428458|ENST00000216962	.|D	.|0.96300	.|-3.97	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98460|0.98460	0.9487|0.9487	H|H	0.97415|0.97415	4|4	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|P	.|0.57283	.|0.817	D|D	0.99529|0.99529	1.0960|1.0960	5|10	.|0.87932	.|D	.|0	-30.7105|-30.7105	14.1805|14.1805	0.65572|0.65572	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|781	.|P11216	.|PYGB_HUMAN	A|C	200|781	.|ENSP00000216962:Y781C	.|ENSP00000216962:Y781C	T|Y	+|+	1|2	0|0	PYGB|PYGB	25224269|25224269	1.000000|1.000000	0.71417|0.71417	0.081000|0.081000	0.20488|0.20488	0.173000|0.173000	0.22820|0.22820	8.985000|8.985000	0.93487|0.93487	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		14	17	0	0	0	1	0	14	17				
TLL2	7093	broad.mit.edu	37	10	98173004	98173004	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98173004G>A	ENST00000357947.3	-	8	1218	c.993C>T	c.(991-993)cgC>cgT	p.R331R	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	331	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGCCGCACGCGCTGGCCAA	0.532																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(991-993)cgC>cgT		tolloid-like 2							65.0	59.0	61.0					10																	98173004		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98173004G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.993C>T	10.37:g.98173004G>A						TLL2_ENST00000469598.1_5'UTR	p.R331R	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	8	1218	-		Colorectal(252;0.0846)	331			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.993C>T	CCDS7449.1																																																																																				0.532	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			4	38	0	0	0	1	0	4	38				
GRIK4	2900	broad.mit.edu	37	11	120744809	120744809	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120744809C>A	ENST00000527524.2	+	10	1228	c.941C>A	c.(940-942)gCt>gAt	p.A314D	GRIK4_ENST00000438375.2_Missense_Mutation_p.A314D|RP11-640N11.2_ENST00000505153.2_RNA	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	314					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCTGTCTATGCTGTGGTGACT	0.642																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(940-942)gCt>gAt		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						62.0	54.0	57.0					11																	120744809		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120744809C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.941C>A	11.37:g.120744809C>A	ENSP00000435648:p.Ala314Asp					RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.A314D	p.A314D			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	10	1228	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	314					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.941C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	c	19.33	3.806584	0.70682	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.85339	-1.97;-1.97	4.93	4.93	0.64822	Extracellular ligand-binding receptor (1);	0.269624	0.42548	D	0.000689	D	0.84492	0.5484	L	0.34521	1.04	0.32038	N	0.598688	B;B	0.31256	0.316;0.316	B;P	0.45138	0.403;0.471	D	0.87774	0.2607	10	0.87932	D	0	.	14.1617	0.65450	0.0:0.85:0.15:0.0	.	314;314	A6H8K8;Q16099	.;GRIK4_HUMAN	D	314	ENSP00000435648:A314D;ENSP00000404063:A314D	ENSP00000404063:A314D	A	+	2	0	GRIK4	120250019	0.995000	0.38212	0.915000	0.36163	0.950000	0.60333	3.148000	0.50647	2.444000	0.82710	0.290000	0.19541	GCT		0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		9	8	1	0	2.17888e-05	1	2.24846e-05	9	8				
LIMD2	80774	broad.mit.edu	37	17	61775913	61775913	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61775913C>T	ENST00000259006.3	-	5	541	c.383G>A	c.(382-384)tGa>tAa	p.*128*	LIMD2_ENST00000578402.1_Silent_p.*128*|LIMD2_ENST00000578061.1_Silent_p.*128*|LIMD2_ENST00000578993.1_Silent_p.*88*|LIMD2_ENST00000583211.1_Silent_p.*79*|LIMD2_ENST00000582055.1_Silent_p.*79*	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	0							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						ACAGAGGCCTCAGGCCGTCTT	0.652																																						ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(382-384)tGa>tAa		LIM domain containing 2							47.0	40.0	42.0					17																	61775913		2203	4300	6503	SO:0001819	synonymous_variant	80774						zinc ion binding	g.chr17:61775913C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.383G>A	17.37:g.61775913C>T						LIMD2_ENST00000582055.1_Silent_p.*79*|LIMD2_ENST00000578402.1_Silent_p.*128*|LIMD2_ENST00000583211.1_Silent_p.*79*|LIMD2_ENST00000578993.1_Silent_p.*88*|LIMD2_ENST00000578061.1_Silent_p.*128*	p.*128*	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			5	541	-			0					D3DU16|Q96S91	Silent	SNP	ENST00000259006.3	37	c.383G>A	CCDS11641.1																																																																																				0.652	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		4	10	0	0	0	1	0	4	10				
STK16	8576	broad.mit.edu	37	2	220112402	220112402	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220112402T>C	ENST00000409638.3	+	6	752	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R	STK16_ENST00000409516.3_Missense_Mutation_p.C76R|STK16_ENST00000409260.1_Missense_Mutation_p.C239R|GLB1L_ENST00000392089.2_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.C194R|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409743.1_Intron	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	194	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCAGCGGTGCACCATCTC	0.577																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(580-582)Tgc>Cgc		serine/threonine kinase 16							49.0	48.0	48.0					2																	220112402		2005	4167	6172	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220112402T>C	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.580T>C	2.37:g.220112402T>C	ENSP00000386928:p.Cys194Arg					STK16_ENST00000409260.1_Missense_Mutation_p.C239R|STK16_ENST00000409516.3_Missense_Mutation_p.C76R|STK16_ENST00000409743.1_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.C194R	p.C194R	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	752	+		Renal(207;0.0474)	194			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.580T>C	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724474	0.68959	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260	T;T;T;T	0.73363	2.12;2.12;-0.74;-0.74	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90443	0.4433	10	0.87932	D	0	-12.8457	15.3773	0.74621	0.0:0.0:0.0:1.0	.	76;239;194	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	R	194;194;76;239	ENSP00000386928:C194R;ENSP00000379964:C194R;ENSP00000386309:C76R;ENSP00000387156:C239R	ENSP00000379964:C194R	C	+	1	0	STK16	219820646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.216000	0.71823	0.533000	0.62120	TGC		0.577	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			9	11	0	0	0	1	0	9	11				
TNXB	7148	broad.mit.edu	37	6	32029310	32029310	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32029310G>A	ENST00000375244.3	-	21	7557	c.7356C>T	c.(7354-7356)ccC>ccT	p.P2452P	TNXB_ENST00000375247.2_Silent_p.P2452P			P22105	TENX_HUMAN	tenascin XB	2512	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCACCACCTGGGGCCGCCCGT	0.672																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7354-7356)ccC>ccT		tenascin XB							55.0	64.0	61.0					6																	32029310		1209	2505	3714	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029310G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7356C>T	6.37:g.32029310G>A						TNXB_ENST00000375247.2_Silent_p.P2452P	p.P2452P			P22105	TENX_HUMAN			21	7557	-			2512					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7356C>T																																																																																					0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		31	37	0	0	0	1	0	31	37				
DGAT2	84649	broad.mit.edu	37	11	75507443	75507443	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75507443G>A	ENST00000228027.7	+	5	760	c.500G>A	c.(499-501)gGc>gAc	p.G167D	DGAT2_ENST00000376262.3_Missense_Mutation_p.G124D	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	167					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGTATCATGGGCCTGGGTGCC	0.542																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(499-501)gGc>gAc		diacylglycerol O-acyltransferase 2							156.0	146.0	149.0					11																	75507443		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75507443G>A		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.500G>A	11.37:g.75507443G>A	ENSP00000228027:p.Gly167Asp					DGAT2_ENST00000376262.3_Missense_Mutation_p.G124D	p.G167D	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			5	760	+	Ovarian(111;0.103)		167					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.500G>A	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230237	0.79688	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.15256	2.44;2.44	5.88	5.88	0.94601	.	0.042151	0.85682	D	0.000000	T	0.24236	0.0587	L	0.48935	1.535	0.80722	D	1	P;P	0.47191	0.713;0.891	B;P	0.45829	0.446;0.494	T	0.00178	-1.1951	10	0.48119	T	0.1	-28.8132	18.8203	0.92094	0.0:0.0:1.0:0.0	.	124;167	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	D	76;76;167;124;121;76	ENSP00000228027:G167D;ENSP00000365438:G124D	ENSP00000228027:G167D	G	+	2	0	DGAT2	75185091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.301000	0.96167	2.782000	0.95742	0.655000	0.94253	GGC		0.542	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		52	83	0	0	0	1	0	52	83				
MEP1B	4225	broad.mit.edu	37	18	29793175	29793175	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29793175C>T	ENST00000269202.6	+	11	1279	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S411L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	411	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCTGGTGCATCACTGGGTGGT	0.453																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1231-1233)tCa>tTa		meprin A, beta							116.0	113.0	114.0					18																	29793175		1997	4176	6173	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793175C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1232C>T	18.37:g.29793175C>T	ENSP00000269202:p.Ser411Leu					MEP1B_ENST00000581447.1_Missense_Mutation_p.S411L	p.S411L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			11	1279	+			411			MAM.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1232C>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875465	0.91664	.	.	ENSG00000141434	ENST00000269202	T	0.02216	4.39	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.344749	0.31909	N	0.006879	T	0.12860	0.0312	M	0.71581	2.175	0.58432	D	0.999996	D	0.71674	0.998	D	0.66716	0.946	T	0.00024	-1.2327	10	0.87932	D	0	-10.9916	20.1005	0.97872	0.0:1.0:0.0:0.0	.	411	Q16820	MEP1B_HUMAN	L	411	ENSP00000269202:S411L	ENSP00000269202:S411L	S	+	2	0	MEP1B	28047173	0.978000	0.34361	0.315000	0.25238	0.908000	0.53690	5.696000	0.68287	2.758000	0.94735	0.467000	0.42956	TCA		0.453	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		4	56	0	0	0	1	0	4	56				
BCLAF1	9774	broad.mit.edu	37	6	136590580	136590580	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136590580A>G	ENST00000531224.1	-	9	2466	c.2214T>C	c.(2212-2214)gaT>gaC	p.D738D	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000392348.2_Silent_p.D736D|BCLAF1_ENST00000527536.1_Silent_p.D738D|BCLAF1_ENST00000527759.1_Silent_p.D736D|BCLAF1_ENST00000353331.4_Silent_p.D736D|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Silent_p.D565D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	738					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTACCTGTCATCTTTGTAAG	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2212-2214)gaT>gaC		BCL2-associated transcription factor 1							98.0	92.0	94.0					6																	136590580		2202	4299	6501	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590580A>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2214T>C	6.37:g.136590580A>G						BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Silent_p.D736D|BCLAF1_ENST00000353331.4_Silent_p.D736D|BCLAF1_ENST00000527759.1_Silent_p.D736D|BCLAF1_ENST00000530767.1_Silent_p.D565D|BCLAF1_ENST00000527536.1_Silent_p.D738D	p.D738D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2466	-	Colorectal(23;0.24)		738					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.2214T>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	4.304	0.055756	0.08291	.	.	ENSG00000029363	ENST00000534762	.	.	.	4.86	-0.449	0.12226	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.4543	3.2636	0.06858	0.501:0.0:0.2293:0.2697	.	.	.	.	R	27	.	.	X	-	1	0	BCLAF1	136632273	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.174000	0.31932	-0.012000	0.14223	0.482000	0.46254	TGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	22	0	0	0	1	0	10	22				
VRK3	51231	broad.mit.edu	37	19	50519379	50519379	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50519379G>A	ENST00000599538.1	-	3	705	c.41C>T	c.(40-42)gCg>gTg	p.A14V	VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	14					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTTGAATGCCGCTTGGATACT	0.468																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(40-42)gCg>gTg		vaccinia related kinase 3							108.0	104.0	105.0					19																	50519379		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50519379G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.41C>T	19.37:g.50519379G>A	ENSP00000469880:p.Ala14Val					VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V	p.A14V			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	3	705	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	14					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.41C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119082	0.06838	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.25912	1.77;1.79	4.52	2.36	0.29203	.	0.598744	0.17197	N	0.183287	T	0.14570	0.0352	L	0.52759	1.655	0.09310	N	1	P;B;B;B;B	0.38300	0.626;0.054;0.027;0.066;0.066	B;B;B;B;B	0.27170	0.077;0.011;0.02;0.019;0.019	T	0.13953	-1.0490	10	0.11485	T	0.65	-0.861	5.109	0.14800	0.1072:0.0:0.6879:0.2049	.	14;14;14;14;14	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	V	14	ENSP00000324636:A14V;ENSP00000366210:A14V	ENSP00000324636:A14V	A	-	2	0	VRK3	55211191	0.004000	0.15560	0.007000	0.13788	0.166000	0.22503	0.811000	0.27198	0.802000	0.34089	0.650000	0.86243	GCG		0.468	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		5	57	0	0	0	1	0	5	57				
ZSCAN22	342945	broad.mit.edu	37	19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T	rs375568613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58846467C>T	ENST00000329665.4	+	2	446	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTCCTGGGTGCGCTGCCCCCA	0.652																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(298-300)gCg>gTg		zinc finger and SCAN domain containing 22		C	VAL/ALA	0,4406		0,0,2203	33.0	35.0	34.0		299	-1.6	0.0	19		34	1,8599		0,1,4299	no	missense	ZSCAN22	NM_181846.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/492	58846467	1,13005	2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846467C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.299C>T	19.37:g.58846467C>T	ENSP00000332433:p.Ala100Val						p.A100V	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	446	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	100			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.299C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805715	0.16467	0.0	1.16E-4	ENSG00000182318	ENST00000329665	T	0.03801	3.8	4.34	-1.61	0.08399	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02494	0.0076	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44019	-0.9355	9	0.52906	T	0.07	.	7.5446	0.27759	0.0:0.4065:0.0:0.5935	.	100	P10073	ZSC22_HUMAN	V	100	ENSP00000332433:A100V	ENSP00000332433:A100V	A	+	2	0	ZSCAN22	63538279	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-2.088000	0.01359	-0.066000	0.12998	-0.137000	0.14449	GCG		0.652	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		14	18	0	0	0	1	0	14	18				
CHDH	55349	broad.mit.edu	37	3	53853045	53853045	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53853045C>T	ENST00000315251.6	-	8	1723	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	429					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CACACTCGTGCCCCGCATGGG	0.552																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1285-1287)gGc>gAc		choline dehydrogenase	Choline(DB00122)						150.0	127.0	135.0					3																	53853045		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53853045C>T	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1286G>A	3.37:g.53853045C>T	ENSP00000319851:p.Gly429Asp						p.G429D	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	8	1723	-		Hepatocellular(537;0.152)	429					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1286G>A	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145734	0.57044	.	.	ENSG00000016391	ENST00000315251	T	0.41400	1.0	5.78	3.88	0.44766	.	0.217827	0.46145	D	0.000320	T	0.28300	0.0699	N	0.04508	-0.205	0.28916	N	0.892405	B	0.27765	0.188	B	0.34590	0.186	T	0.31943	-0.9925	10	0.72032	D	0.01	-18.2343	16.2447	0.82436	0.0:0.5331:0.4669:0.0	.	429	Q8NE62	CHDH_HUMAN	D	429	ENSP00000319851:G429D	ENSP00000319851:G429D	G	-	2	0	CHDH	53828085	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.343000	0.33930	0.654000	0.30846	0.563000	0.77884	GGC		0.552	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		18	37	0	0	0	1	0	18	37				
MGAT4A	11320	broad.mit.edu	37	2	99279509	99279509	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99279509C>A	ENST00000264968.3	-	4	900	c.537G>T	c.(535-537)gaG>gaT	p.E179D	MGAT4A_ENST00000409391.1_Splice_Site_p.E179D|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Splice_Site_p.E179D|MGAT4A_ENST00000414521.2_Splice_Site_p.E51D			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	179					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAATAATTACCTCTCCTATGA	0.289																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.e5+1		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							85.0	94.0	91.0					2																	99279509		2203	4291	6494	SO:0001630	splice_region_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279509C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.537+1G>T	2.37:g.99279509C>A						MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Splice_Site_p.E179_splice|MGAT4A_ENST00000409391.1_Splice_Site_p.E179_splice|MGAT4A_ENST00000414521.2_Splice_Site_p.E51_splice	p.E179_splice	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	850	-			179					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Splice_Site	SNP	ENST00000264968.3	37	c.537_splice	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118141	0.94385	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	L	0.44542	1.39	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.966	D;D;P	0.79108	0.992;0.992;0.627	T	0.50021	-0.8876	9	.	.	.	.	19.2094	0.93748	0.0:1.0:0.0:0.0	.	51;51;179	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	D	179;51;179;179	ENSP00000377127:E179D;ENSP00000404889:E51D;ENSP00000264968:E179D;ENSP00000386841:E179D	.	E	-	3	2	MGAT4A	98645941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	GAG		0.289	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214	Missense_Mutation	62	70	1	0	5.19286e-32	1	5.82399e-32	62	70				
EPPK1	83481	broad.mit.edu	37	8	144945928	144945928	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144945928G>A	ENST00000525985.1	-	2	1565	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V				P58107	EPIPL_HUMAN	epiplakin 1	498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACAGAGACGGTGGCTG	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1492-1494)gtC>gtT		epiplakin 1							13.0	17.0	16.0					8																	144945928		1903	4092	5995	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945928G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1494C>T	8.37:g.144945928G>A							p.V498V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1565	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		498					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.1494C>T																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	19	0	0	0	1	0	10	19				
STX16	8675	broad.mit.edu	37	20	57243061	57243061	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57243061C>T	ENST00000371141.4	+	4	995	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Missense_Mutation_p.R70W|STX16_ENST00000355957.5_Missense_Mutation_p.R74W|STX16_ENST00000359617.4_Missense_Mutation_p.R38W|STX16_ENST00000361830.3_Missense_Mutation_p.R91W|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R91W|STX16_ENST00000358029.4_Missense_Mutation_p.R87W|STX16_ENST00000361770.5_Missense_Mutation_p.R74W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	91					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGATGTTGGCCGGATTAAGCA	0.468																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(271-273)Cgg>Tgg		syntaxin 16							128.0	115.0	120.0					20																	57243061		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57243061C>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.271C>T	20.37:g.57243061C>T	ENSP00000360183:p.Arg91Trp					STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R91W|STX16_ENST00000359617.4_Missense_Mutation_p.R38W|STX16_ENST00000358029.4_Missense_Mutation_p.R87W|STX16_ENST00000361830.3_Missense_Mutation_p.R91W|STX16_ENST00000361770.5_Missense_Mutation_p.R74W|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000355957.5_Missense_Mutation_p.R74W|STX16_ENST00000371132.4_Missense_Mutation_p.R70W	p.R91W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		4	995	+	all_lung(29;0.0175)		91					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.271C>T	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172448	0.78452	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.31	4.3	0.51218	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.49592	0.1566	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.978;0.975;0.988;0.993	T	0.56842	-0.7912	10	0.87932	D	0	.	12.4528	0.55686	0.2323:0.7677:0.0:0.0	.	87;74;70;91	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	W	38;74;74;38;38;38;91;38;70;87;91;33	ENSP00000388348:R38W;ENSP00000348229:R74W;ENSP00000355408:R74W;ENSP00000312086:R38W;ENSP00000416852:R38W;ENSP00000352634:R38W;ENSP00000360183:R91W;ENSP00000360173:R70W;ENSP00000350723:R87W;ENSP00000354445:R91W;ENSP00000401801:R33W	ENSP00000360180:R38W	R	+	1	2	STX16	56676467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.094000	0.50227	2.490000	0.84030	0.585000	0.79938	CGG		0.468	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		12	23	0	0	0	1	0	12	23				
ZNF23	7571	broad.mit.edu	37	16	71483185	71483185	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71483185C>T	ENST00000393539.2	-	6	1556	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZNF23_ENST00000428724.2_Missense_Mutation_p.G190E|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.G248E|ZNF23_ENST00000564528.1_Missense_Mutation_p.G190E|ZNF23_ENST00000417828.1_Missense_Mutation_p.G248E|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GGGCTTCTCCCCACTGTGGAT	0.478																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(742-744)gGg>gAg		zinc finger protein 23							125.0	112.0	116.0					16																	71483185		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483185C>T	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.743G>A	16.37:g.71483185C>T	ENSP00000377171:p.Gly248Glu					ZNF23_ENST00000428724.2_Missense_Mutation_p.G190E|ZNF23_ENST00000357254.4_Missense_Mutation_p.G248E|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.G190E|ZNF23_ENST00000417828.1_Missense_Mutation_p.G248E|RP11-510M2.10_ENST00000576258.1_RNA	p.G248E	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1556	-		Ovarian(137;0.00768)	248					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.743G>A	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368620	0.61624	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.7	3.7	0.42460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000844	T	0.43765	0.1262	L	0.52126	1.63	0.45150	D	0.998169	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.39210	-0.9625	10	0.66056	D	0.02	-26.5127	13.7712	0.63026	0.0:1.0:0.0:0.0	.	248;248	B3KR55;P17027	.;ZNF23_HUMAN	E	248;248;248;190;190;48	ENSP00000377171:G248E;ENSP00000349796:G248E;ENSP00000395712:G248E;ENSP00000387673:G190E	ENSP00000349796:G248E	G	-	2	0	ZNF23	70040686	0.906000	0.30813	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	2.371000	0.80710	0.561000	0.74099	GGG		0.478	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		53	62	0	0	0	1	0	53	62				
NSUN5	55695	broad.mit.edu	37	7	72718231	72718231	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72718231G>A	ENST00000252594.6	-	7	945	c.930C>T	c.(928-930)ggC>ggT	p.G310G	NSUN5_ENST00000438747.2_Silent_p.G310G|NSUN5_ENST00000310326.8_Silent_p.G310G|NSUN5_ENST00000428206.1_Silent_p.G272G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	310					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCTCACCCGAGCCACTGCAGG	0.567																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(814-816)ggC>ggT		NOP2/Sun domain family, member 5							39.0	34.0	36.0					7																	72718231		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718231G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.930C>T	7.37:g.72718231G>A						NSUN5_ENST00000438747.2_Silent_p.G310G|NSUN5_ENST00000252594.6_Silent_p.G310G|NSUN5_ENST00000310326.8_Silent_p.G310G	p.G272G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			7	829	-		Lung NSC(55;0.163)	310					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.816C>T	CCDS5547.1																																																																																				0.567	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		8	8	0	0	0	1	0	8	8				
IGLL1	3543	broad.mit.edu	37	22	23915577	23915577	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23915577T>C	ENST00000330377.2	-	3	635	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCTGGCCGCGTACTTGTTGTT	0.602																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(517-519)tAc>tGc		immunoglobulin lambda-like polypeptide 1							116.0	103.0	107.0					22																	23915577		2203	4300	6503	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23915577T>C	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.518A>G	22.37:g.23915577T>C	ENSP00000329312:p.Tyr173Cys					IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	p.Y173C	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	635	-			173			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.518A>G	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	9.756	1.168776	0.21621	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.06068	3.35;3.35	2.45	2.45	0.29901	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	T	0.32793	0.0841	H	0.96805	3.885	0.41894	D	0.990388	D	0.63880	0.993	D	0.73380	0.98	T	0.38564	-0.9655	10	0.87932	D	0	.	8.7605	0.34672	0.0:0.0:0.0:1.0	.	173	P15814	IGLL1_HUMAN	C	173;174	ENSP00000329312:Y173C;ENSP00000403391:Y174C	ENSP00000329312:Y173C	Y	-	2	0	IGLL1	22245577	0.978000	0.34361	0.519000	0.27824	0.008000	0.06430	1.817000	0.39002	1.119000	0.41883	0.139000	0.15985	TAC		0.602	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		26	50	0	0	0	1	0	26	50				
MOV10L1	54456	broad.mit.edu	37	22	50584141	50584141	+	Silent	SNP	G	G	A	rs547130531	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50584141G>A	ENST00000262794.5	+	19	2612	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	MOV10L1_ENST00000545383.1_Silent_p.P843P|MOV10L1_ENST00000395858.3_Silent_p.P843P|MOV10L1_ENST00000540615.1_Silent_p.P823P|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	843					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCGTCAAACCGTATTGCAGAG	0.483													g|||	2	0.000399361	0.0008	0.0	5008	,	,		18409	0.0		0.001	False		,,,				2504	0.0					ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2527-2529)ccG>ccA		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							119.0	116.0	117.0					22																	50584141		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50584141G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2529G>A	22.37:g.50584141G>A						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.P843P|MOV10L1_ENST00000545383.1_Silent_p.P843P|MOV10L1_ENST00000540615.1_Silent_p.P823P	p.P843P	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	19	2612	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	843					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.2529G>A	CCDS14084.1																																																																																				0.483	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		34	54	0	0	0	1	0	34	54				
FGFRL1	53834	broad.mit.edu	37	4	1018179	1018179	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1018179C>A	ENST00000398484.2	+	7	1379	c.799C>A	c.(799-801)Cag>Aag	p.Q267K	FGFRL1_ENST00000510644.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.Q267K|FGFRL1_ENST00000504138.1_Missense_Mutation_p.Q267K			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	267	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACGTCCTTCCAGTGCAAGGT	0.677																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(799-801)Cag>Aag		fibroblast growth factor receptor-like 1							61.0	58.0	59.0					4																	1018179		2201	4297	6498	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018179C>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.799C>A	4.37:g.1018179C>A	ENSP00000381498:p.Gln267Lys					FGFRL1_ENST00000510644.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000504138.1_Missense_Mutation_p.Q267K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.Q267K	p.Q267K			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1379	+			267			Ig-like C2-type 3.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.799C>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.859603	0.91433	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.70699	-0.4800	10	0.32370	T	0.25	-32.7033	17.8682	0.88803	0.0:1.0:0.0:0.0	.	267	Q8N441	FGRL1_HUMAN	K	267;237;267;267;267	ENSP00000381498:Q267K;ENSP00000425025:Q267K;ENSP00000423091:Q267K;ENSP00000264748:Q267K	ENSP00000264748:Q267K	Q	+	1	0	FGFRL1	1008179	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.450000	0.60041	2.466000	0.83321	0.574000	0.79327	CAG		0.677	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		19	35	1	0	8.10497e-08	1	8.52441e-08	19	35				
ZNF101	94039	broad.mit.edu	37	19	19790274	19790274	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19790274G>A	ENST00000592502.1	+	4	586	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R39H			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	159					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.R159H(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GGTGCACGGCGCACAGTAACA	0.478																																						ENST00000592502.1																			2	Substitution - Missense(2)	p.R159H(2)	large_intestine(1)|breast(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(475-477)cGc>cAc		zinc finger protein 101							94.0	95.0	95.0					19																	19790274		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790274G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.476G>A	19.37:g.19790274G>A	ENSP00000468049:p.Arg159His					ZNF101_ENST00000415784.2_Missense_Mutation_p.R39H|ZNF101_ENST00000444249.2_3'UTR	p.R159H			Q8IZC7	ZN101_HUMAN			4	586	+			159					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.476G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.587963	0.00128	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07800	3.16;3.16	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.23138	N	0.998238	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	9	0.02654	T	1	.	5.548	0.17076	0.7377:0.0:0.2623:0.0	.	159	Q8IZC7	ZN101_HUMAN	H	159;159;39	ENSP00000319716:R159H;ENSP00000400952:R39H	ENSP00000319716:R159H	R	+	2	0	ZNF101	19651274	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.475000	0.02335	-1.768000	0.01298	-1.745000	0.00682	CGC		0.478	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		33	33	0	0	0	1	0	33	33				
ZCWPW1	55063	broad.mit.edu	37	7	99998653	99998653	+	Missense_Mutation	SNP	G	G	A	rs200988509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99998653G>A	ENST00000398027.2	-	18	2178	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A473V|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A473V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	644							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAAACAGCGCCACGGGGAA	0.592																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1930-1932)gCg>gTg		zinc finger, CW type with PWWP domain 1							43.0	46.0	45.0					7																	99998653		2067	4199	6266	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998653G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1931C>T	7.37:g.99998653G>A	ENSP00000381109:p.Ala644Val					ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A473V|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A473V	p.A644V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	2178	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		644					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1931C>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967644	0.34754	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.58797	0.51;0.31;0.31	4.77	-0.336	0.12658	.	.	.	.	.	T	0.36524	0.0970	L	0.36672	1.1	0.09310	N	1	P;P;B	0.52842	0.956;0.956;0.168	B;B;B	0.39299	0.296;0.296;0.027	T	0.27502	-1.0072	8	.	.	.	2.8389	0.7606	0.01006	0.283:0.1654:0.3816:0.17	.	605;644;473	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	V	644;473;473	ENSP00000381109:A644V;ENSP00000419187:A473V;ENSP00000314880:A473V	.	A	-	2	0	ZCWPW1	99836589	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.301000	0.19174	0.031000	0.15407	-0.176000	0.13171	GCG		0.592	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		11	12	0	0	0	1	0	11	12				
AATK	9625	broad.mit.edu	37	17	79094371	79094371	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79094371C>T	ENST00000326724.4	-	11	3389	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E	AATK_ENST00000417379.1_Missense_Mutation_p.G1019E	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1122	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGACAACAGTCCTGGGGGCCC	0.697																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3364-3366)gGa>gAa		apoptosis-associated tyrosine kinase							6.0	6.0	6.0					17																	79094371		1762	3969	5731	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094371C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3365G>A	17.37:g.79094371C>T	ENSP00000324196:p.Gly1122Glu					AATK_ENST00000417379.1_Missense_Mutation_p.G1019E	p.G1122E	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3389	-	all_neural(118;0.101)		1122			Pro-rich.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3365G>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.164|7.164	0.586368|0.586368	0.13749|0.13749	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.76839	.|-1.05	4.58|4.58	-0.138|-0.138	0.13464|0.13464	.|.	.|1.106660	.|0.07032	.|N	.|0.828652	T|T	0.60586|0.60586	0.2280|0.2280	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.15052	.|0.012	T|T	0.38929|0.38929	-0.9638|-0.9638	5|10	.|0.20046	.|T	.|0.44	.|.	3.4728|3.4728	0.07574|0.07574	0.2918:0.4035:0.0:0.3047|0.2918:0.4035:0.0:0.3047	.|.	.|1122	.|Q6ZMQ8	.|LMTK1_HUMAN	N|E	1075|1122	.|ENSP00000324196:G1122E	.|ENSP00000324196:G1122E	D|G	-|-	1|2	0|0	AATK|AATK	76708966|76708966	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.277000|0.277000	0.26821|0.26821	-1.663000|-1.663000	0.01968|0.01968	0.036000|0.036000	0.15547|0.15547	0.313000|0.313000	0.20887|0.20887	GAC|GGA		0.697	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		3	4	0	0	0	1	0	3	4				
PDE4DIP	9659	broad.mit.edu	37	1	144852427	144852427	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144852427C>T	ENST00000369354.3	-	0	7261				PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R2339H|PDE4DIP_ENST00000369359.4_3'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGTGGCTGCGCTTCTTGCA	0.517			T	PDGFRB	MPD																																	ENST00000369356.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7015-7017)cGc>cAc		phosphodiesterase 4D interacting protein							72.0	68.0	69.0					1																	144852427		2203	4296	6499	SO:0001624	3_prime_UTR_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144852427C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.*31G>A	1.37:g.144852427C>T						PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000369354.3_3'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR	p.R2339H	NM_001198834.2|NM_014644.4	NP_001185763.2|NP_055459.4	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7306	-			1950					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7016G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.403393	0.42613	.	.	ENSG00000178104	ENST00000369356	T	0.01516	4.81	4.47	1.49	0.22878	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.28596	N	0.909409	.	.	.	.	.	.	T	0.49688	-0.8913	6	0.44086	T	0.13	.	4.616	0.12427	0.0:0.6118:0.1821:0.2062	.	.	.	.	H	2339	ENSP00000358363:R2339H	ENSP00000358363:R2339H	R	-	2	0	PDE4DIP	143563784	0.336000	0.24757	0.230000	0.23976	0.878000	0.50629	0.099000	0.15210	0.105000	0.17753	-0.325000	0.08501	CGC		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	32	0	0	0	1	0	6	32				
NCOR2	9612	broad.mit.edu	37	12	124857101	124857101	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124857101G>A	ENST00000405201.1	-	20	2274	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A	NCOR2_ENST00000429285.2_Silent_p.A740A|NCOR2_ENST00000404121.2_Silent_p.A311A|NCOR2_ENST00000356219.3_Silent_p.A758A|NCOR2_ENST00000404621.1_Silent_p.A740A|NCOR2_ENST00000397355.1_Silent_p.A741A			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	758					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTCCTTGGCGGCCTCAGTGT	0.687																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2272-2274)gcC>gcT		nuclear receptor corepressor 2							49.0	54.0	52.0					12																	124857101		2066	4201	6267	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124857101G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2274C>T	12.37:g.124857101G>A						NCOR2_ENST00000404621.1_Silent_p.A740A|NCOR2_ENST00000429285.2_Silent_p.A740A|NCOR2_ENST00000405201.1_Silent_p.A758A|NCOR2_ENST00000404121.2_Silent_p.A311A|NCOR2_ENST00000397355.1_Silent_p.A741A	p.A758A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2429	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		758					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.2274C>T	CCDS41858.2																																																																																				0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		28	35	0	0	0	1	0	28	35				
ITGAE	3682	broad.mit.edu	37	17	3661129	3661129	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3661129G>A	ENST00000263087.4	-	9	989	c.891C>T	c.(889-891)caC>caT	p.H297H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	297	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCTGGAGCCGTGGCTTGAGG	0.517																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(889-891)caC>caT		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							182.0	170.0	174.0					17																	3661129		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661129G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.891C>T	17.37:g.3661129G>A							p.H297H	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	989	-			297			VWFA.		Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.891C>T	CCDS32531.1																																																																																				0.517	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		43	61	0	0	0	1	0	43	61				
OR8H3	390152	broad.mit.edu	37	11	55890222	55890222	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55890222C>T	ENST00000313472.3	+	1	374	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CGCTATGCAGCGATCTGCAGT	0.473																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(373-375)gCg>gTg		olfactory receptor, family 8, subfamily H, member 3							200.0	186.0	191.0					11																	55890222		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890222C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.374C>T	11.37:g.55890222C>T	ENSP00000323928:p.Ala125Val						p.A125V	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	374	+	Esophageal squamous(21;0.00693)		125					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.374C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924245	0.52653	.	.	ENSG00000181761	ENST00000313472	T	0.01228	5.14	3.44	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.14527	0.0351	H	0.97852	4.09	0.39542	D	0.968838	D	0.89917	1.0	D	0.91635	0.999	T	0.14699	-1.0463	10	0.87932	D	0	.	12.1106	0.53838	0.1734:0.8266:0.0:0.0	.	125	Q8N146	OR8H3_HUMAN	V	125	ENSP00000323928:A125V	ENSP00000323928:A125V	A	+	2	0	OR8H3	55646798	1.000000	0.71417	0.857000	0.33713	0.181000	0.23173	6.876000	0.75556	0.525000	0.28522	0.173000	0.16961	GCG		0.473	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		15	118	0	0	0	1	0	15	118				
SCN11A	11280	broad.mit.edu	37	3	38936264	38936264	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38936264C>A	ENST00000302328.3	-	15	2793	c.2595G>T	c.(2593-2595)caG>caT	p.Q865H	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q865H|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q865H|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q865H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	865					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCTTTTTGCTGTGGTAAGT	0.502																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2593-2595)caG>caT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						104.0	102.0	103.0					3																	38936264		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936264C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2595G>T	3.37:g.38936264C>A	ENSP00000307599:p.Gln865His					SCN11A_ENST00000444237.2_Missense_Mutation_p.Q865H|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q865H|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q865H	p.Q865H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2793	-			865					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2595G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406647	0.25378	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.38	2.42	0.29668	Sodium ion transport-associated (1);	1.258710	0.05318	N	0.526038	T	0.70211	0.3198	N	0.08118	0	0.09310	N	1	B	0.27971	0.196	B	0.34452	0.183	T	0.62220	-0.6900	10	0.48119	T	0.1	.	5.4283	0.16438	0.0:0.5594:0.1435:0.2971	.	865	Q9UI33	SCNBA_HUMAN	H	865	ENSP00000307599:Q865H;ENSP00000400945:Q865H;ENSP00000416757:Q865H;ENSP00000408028:Q865H	ENSP00000307599:Q865H	Q	-	3	2	SCN11A	38911268	0.000000	0.05858	0.018000	0.16275	0.013000	0.08279	-0.660000	0.05317	0.754000	0.32968	0.650000	0.86243	CAG		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		28	66	1	0	5.6714e-07	1	5.92535e-07	28	66				
LIPI	149998	broad.mit.edu	37	21	15516970	15516970	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:15516970C>T	ENST00000536861.1	-	9	1268	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.M444I			Q6XZB0	LIPI_HUMAN	lipase, member I	423					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTGATTTTAACATGAGTCTCT	0.294																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(1330-1332)atG>atA		lipase, member I							68.0	72.0	71.0					21																	15516970		2202	4297	6499	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15516970C>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1269G>A	21.37:g.15516970C>T	ENSP00000440381:p.Met423Ile					LIPI_ENST00000536861.1_Missense_Mutation_p.M423I	p.M444I	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	9	1357	-			423		D -> E.			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.1332G>A		.	.	.	.	.	.	.	.	.	.	C	12.28	1.890701	0.33348	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87491	-2.26;-2.24	5.34	2.49	0.30216	.	0.235404	0.24559	U	0.037485	T	0.79805	0.4509	L	0.44542	1.39	0.09310	N	1	B	0.28605	0.217	B	0.28139	0.086	T	0.67019	-0.5776	10	0.33940	T	0.23	.	7.9175	0.29827	0.0:0.7232:0.0:0.2767	.	444	Q6XZB0-2	.	I	444;423	ENSP00000343331:M444I;ENSP00000440381:M423I	ENSP00000343331:M444I	M	-	3	0	LIPI	14438841	0.998000	0.40836	0.707000	0.30419	0.973000	0.67179	1.204000	0.32296	0.739000	0.32628	0.650000	0.86243	ATG		0.294	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		27	14	0	0	0	1	0	27	14				
PCNT	5116	broad.mit.edu	37	21	47821621	47821621	+	Missense_Mutation	SNP	C	C	T	rs201187205		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47821621C>T	ENST00000359568.5	+	26	5055	c.4948C>T	c.(4948-4950)Cgg>Tgg	p.R1650W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1650					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCACTCCTGCGGCGCGAGAG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		13303	0.0		0.001	False		,,,				2504	0.0					ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4948-4950)Cgg>Tgg		pericentrin							66.0	63.0	64.0					21																	47821621		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47821621C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4948C>T	21.37:g.47821621C>T	ENSP00000352572:p.Arg1650Trp					PCNT_ENST00000480896.1_3'UTR	p.R1650W	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			26	5055	+	Breast(49;0.112)		1650					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4948C>T	CCDS33592.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.04	3.008780	0.54361	.	.	ENSG00000160299	ENST00000359568	T	0.58797	0.31	5.43	3.42	0.39159	.	0.792238	0.09987	N	0.730183	T	0.45617	0.1351	L	0.39245	1.2	0.09310	N	1	P;P	0.44044	0.825;0.733	B;B	0.33890	0.172;0.083	T	0.44467	-0.9326	10	0.72032	D	0.01	.	11.545	0.50688	0.3177:0.6823:0.0:0.0	.	1532;1650	O95613-2;O95613	.;PCNT_HUMAN	W	1650	ENSP00000352572:R1650W	ENSP00000352572:R1650W	R	+	1	2	PCNT	46646049	0.000000	0.05858	0.028000	0.17463	0.004000	0.04260	0.190000	0.17057	2.543000	0.85770	0.655000	0.94253	CGG		0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		15	8	0	0	0	1	0	15	8				
GPR157	80045	broad.mit.edu	37	1	9171537	9171537	+	Missense_Mutation	SNP	G	G	A	rs372494295		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9171537G>A	ENST00000377411.4	-	2	537	c.395C>T	c.(394-396)cCg>cTg	p.P132L	GPR157_ENST00000414642.2_Missense_Mutation_p.P132L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GATGACCAACGGGACCCCCCA	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19810	0.0		0.0	False		,,,				2504	0.001					ENST00000377411.4																			0				lung(4)|prostate(1)	5						c.(394-396)cCg>cTg		G protein-coupled receptor 157		G	LEU/PRO	0,4406		0,0,2203	51.0	47.0	48.0		395	5.2	0.4	1		48	2,8598	1.2+/-3.3	0,2,4298	no	missense	GPR157	NM_024980.4	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	132/336	9171537	2,13004	2203	4300	6503	SO:0001583	missense	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9171537G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.395C>T	1.37:g.9171537G>A	ENSP00000366628:p.Pro132Leu		OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	654	GPR157_ENST00000414642.2_Missense_Mutation_p.P132L	p.P132L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	2	537	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	132					A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	c.395C>T	CCDS100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298659|3.298659	0.60195|0.60195	0.0|0.0	2.33E-4|2.33E-4	ENSG00000180758|ENSG00000180758	ENST00000377411;ENST00000414642|ENST00000377408	D;D|.	0.84589|.	-1.87;-1.87|.	5.22|5.22	5.22|5.22	0.72569|0.72569	GPCR, family 2-like (1);GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78880|0.78880	0.4353|0.4353	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.995;0.999;0.999|.	T|T	0.82283|0.82283	-0.0534|-0.0534	10|6	0.87932|0.87932	D|D	0|0	-47.4907|-47.4907	17.7643|17.7643	0.88473|0.88473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	132;132;132|.	E7ENU8;A8KA23;Q5UAW9|.	.;.;GP157_HUMAN|.	L|C	132|129	ENSP00000366628:P132L;ENSP00000411172:P132L|.	ENSP00000366628:P132L|ENSP00000366625:R129C	P|R	-|-	2|1	0|0	GPR157|GPR157	9094124|9094124	1.000000|1.000000	0.71417|0.71417	0.377000|0.377000	0.26055|0.26055	0.009000|0.009000	0.06853|0.06853	8.876000|8.876000	0.92379|0.92379	2.425000|2.425000	0.82216|0.82216	0.585000|0.585000	0.79938|0.79938	CCG|CGT		0.617	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		5	9	0	0	0	1	0	5	9				
CYP17A1	1586	broad.mit.edu	37	10	104595136	104595136	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104595136A>C	ENST00000369887.3	-	2	482	c.311T>G	c.(310-312)aTc>aGc	p.I104S	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	104					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GTTGGACGCGATGTCTAGAGT	0.567											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(310-312)aTc>aGc		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						161.0	122.0	135.0					10																	104595136		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104595136A>C	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.311T>G	10.37:g.104595136A>C	ENSP00000358903:p.Ile104Ser		OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172	CYP17A1_ENST00000489268.1_5'UTR	p.I104S	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	482	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	104					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.311T>G	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701992	0.68501	.	.	ENSG00000148795	ENST00000369887	T	0.66995	-0.24	5.8	5.8	0.92144	.	0.259243	0.38959	N	0.001517	T	0.75838	0.3904	L	0.51422	1.61	0.43531	D	0.995812	D	0.57257	0.979	P	0.60473	0.875	T	0.78048	-0.2356	10	0.72032	D	0.01	.	15.8106	0.78561	1.0:0.0:0.0:0.0	.	104	P05093	CP17A_HUMAN	S	104	ENSP00000358903:I104S	ENSP00000358903:I104S	I	-	2	0	CYP17A1	104585126	1.000000	0.71417	0.522000	0.27862	0.022000	0.10575	8.548000	0.90669	2.217000	0.71921	0.379000	0.24179	ATC		0.567	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		24	32	0	0	0	1	0	24	32				
PEX1	5189	broad.mit.edu	37	7	92147233	92147233	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92147233A>T	ENST00000248633.4	-	5	691	c.596T>A	c.(595-597)cTt>cAt	p.L199H	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Missense_Mutation_p.L199H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	199					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATAACTATGAAGTTTTTTATA	0.383																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(595-597)cTt>cAt		peroxisomal biogenesis factor 1							79.0	79.0	79.0					7																	92147233		2193	4295	6488	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147233A>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.596T>A	7.37:g.92147233A>T	ENSP00000248633:p.Leu199His					PEX1_ENST00000428214.1_Missense_Mutation_p.L199H|PEX1_ENST00000438045.1_Intron	p.L199H	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	691	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	199					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.596T>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	1.547	-0.540324	0.04053	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.95171	-3.57;-3.63	5.22	2.66	0.31614	.	0.786255	0.11756	N	0.532629	D	0.86703	0.5996	N	0.14661	0.345	0.19775	N	0.999954	B	0.29805	0.257	B	0.27380	0.079	T	0.75852	-0.3171	10	0.30854	T	0.27	-1.0277	7.4801	0.27400	0.795:0.0:0.0704:0.1346	.	199	O43933	PEX1_HUMAN	H	199	ENSP00000248633:L199H;ENSP00000394413:L199H	ENSP00000248633:L199H	L	-	2	0	PEX1	91985169	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.385000	0.34408	0.360000	0.24265	0.454000	0.30748	CTT		0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		17	21	0	0	0	1	0	17	21				
LHPP	64077	broad.mit.edu	37	10	126177053	126177053	+	Missense_Mutation	SNP	G	G	A	rs200710743		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:126177053G>A	ENST00000368842.5	+	3	404	c.376G>A	c.(376-378)Gca>Aca	p.A126T	LHPP_ENST00000392757.4_Missense_Mutation_p.A126T|LHPP_ENST00000368839.1_Missense_Mutation_p.A126T	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	126					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AATTGCAGACGCAGGAGAAAG	0.478																																					GBM(165;1980 2715 15999 18454)	ENST00000368842.5																			0				large_intestine(2)|lung(2)	4						c.(376-378)Gca>Aca		phospholysine phosphohistidine inorganic pyrophosphate phosphatase		G	THR/ALA,THR/ALA	0,4406		0,0,2203	139.0	136.0	137.0		376,376	4.1	0.1	10		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LHPP	NM_001167880.1,NM_022126.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/211,126/271	126177053	1,13005	2203	4300	6503	SO:0001583	missense	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126177053G>A	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.376G>A	10.37:g.126177053G>A	ENSP00000357835:p.Ala126Thr					LHPP_ENST00000368839.1_Missense_Mutation_p.A126T|LHPP_ENST00000392757.4_Missense_Mutation_p.A126T	p.A126T	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	3	404	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	126					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Missense_Mutation	SNP	ENST00000368842.5	37	c.376G>A	CCDS7640.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276690	0.59758	0.0	1.16E-4	ENSG00000107902	ENST00000392757;ENST00000368842;ENST00000368839	T;T;T	0.23147	1.92;1.92;1.92	5.04	4.08	0.47627	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.93106	3.38	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.80764	0.987;0.994;0.725	T	0.67225	-0.5724	10	0.42905	T	0.14	-13.1733	15.4705	0.75437	0.0:0.0:0.8615:0.1385	.	126;126;126	Q5T1Z0;Q9H008-2;Q9H008	.;.;LHPP_HUMAN	T	126	ENSP00000376512:A126T;ENSP00000357835:A126T;ENSP00000357832:A126T	ENSP00000357832:A126T	A	+	1	0	LHPP	126167043	1.000000	0.71417	0.148000	0.22405	0.033000	0.12548	7.335000	0.79234	2.512000	0.84698	0.655000	0.94253	GCA		0.478	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		4	84	0	0	0	1	0	4	84				
KMT2B	9757	broad.mit.edu	37	19	36215970	36215970	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36215970C>T	ENST00000222270.7	+	10	3510	c.3510C>T	c.(3508-3510)cgC>cgT	p.R1170R	KMT2B_ENST00000420124.1_Silent_p.R1170R|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1170					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)										GTGTGCACCGCGTCCGTGTGG	0.572																																						ENST00000222270.7																			0											c.(3508-3510)cgC>cgT									65.0	71.0	69.0					19																	36215970		2020	4185	6205	SO:0001819	synonymous_variant	0							g.chr19:36215970C>T	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.3510C>T	19.37:g.36215970C>T						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.R1170R	p.R1170R	NM_014727.1	NP_055542.1					10	3510	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3510C>T	CCDS46055.1																																																																																				0.572	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		16	29	0	0	0	1	0	16	29				
BCL9L	283149	broad.mit.edu	37	11	118771450	118771450	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118771450G>A	ENST00000334801.3	-	6	3966	c.3002C>T	c.(3001-3003)gCg>gTg	p.A1001V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1001	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGAAGGCACCGCCATGGAAGG	0.642																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3001-3003)gCg>gTg		B-cell CLL/lymphoma 9-like							72.0	71.0	72.0					11																	118771450		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771450G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3002C>T	11.37:g.118771450G>A	ENSP00000335320:p.Ala1001Val					BCL9L_ENST00000526143.1_5'UTR	p.A1001V	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3966	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1001			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3002C>T	CCDS8403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.051283|4.051283	0.75960|0.75960	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085|ENST00000530293	T|.	0.43688|.	0.94|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.47455|.	D|.	0.000223|.	T|T	0.36908|0.36908	0.0984|0.0984	N|N	0.14661|0.14661	0.345|0.345	0.34128|0.34128	D|D	0.664936|0.664936	D;D|.	0.63046|.	0.975;0.992|.	P;P|.	0.45343|.	0.477;0.46|.	T|T	0.46857|0.46857	-0.9161|-0.9161	10|5	0.72032|.	D|.	0.01|.	-12.258|-12.258	13.3809|13.3809	0.60766|0.60766	0.0:0.0:0.8428:0.1572|0.0:0.0:0.8428:0.1572	.|.	996;1001|.	Q86UU0-2;Q86UU0|.	.;BCL9L_HUMAN|.	V|W	1001;964;294;1001;1001|21	ENSP00000335320:A1001V|.	ENSP00000335320:A1001V|.	A|R	-|-	2|1	0|2	BCL9L|BCL9L	118276660|118276660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.990000|5.990000	0.70595|0.70595	2.556000|2.556000	0.86216|0.86216	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		26	34	0	0	0	1	0	26	34				
FAT2	2196	broad.mit.edu	37	5	150901351	150901351	+	Silent	SNP	G	G	A	rs567656113		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150901351G>A	ENST00000261800.5	-	18	10815	c.10803C>T	c.(10801-10803)aaC>aaT	p.N3601N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3601	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCGTGACGTTGAACGAGT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22460	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10801-10803)aaC>aaT		FAT atypical cadherin 2							55.0	44.0	48.0					5																	150901351		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901351G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10803C>T	5.37:g.150901351G>A							p.N3601N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10815	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3601			Cadherin 32.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.10803C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	3.808	-0.040404	0.07497	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.68	-1.45	0.08828	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52396	-0.8581	4	.	.	.	.	11.6192	0.51108	0.5128:0.0:0.4872:0.0	.	.	.	.	C	460	.	.	R	-	1	0	FAT2	150881544	0.015000	0.18098	0.644000	0.29465	0.492000	0.33523	-1.019000	0.03622	-0.680000	0.05211	-0.217000	0.12591	CGT		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	17	0	0	0	1	0	7	17				
AGPS	8540	broad.mit.edu	37	2	178357886	178357886	+	Missense_Mutation	SNP	C	C	T	rs144444120		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178357886C>T	ENST00000264167.4	+	12	1390	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	415					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGATGTGCTCCGGCATCTATT	0.308																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1243-1245)cCg>cTg		alkylglycerone phosphate synthase		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	81.0	83.0	82.0		1244	5.7	1.0	2	dbSNP_134	82	0,8600		0,0,4300	no	missense	AGPS	NM_003659.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	415/659	178357886	1,13005	2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178357886C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1244C>T	2.37:g.178357886C>T	ENSP00000264167:p.Pro415Leu					AGPS_ENST00000409888.1_Intron	p.P415L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		12	1390	+			415					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1244C>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950502	0.92660	2.27E-4	0.0	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.86956	-2.19	5.66	5.66	0.87406	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.049091	0.85682	D	0.000000	D	0.90549	0.7038	M	0.67953	2.075	0.80722	D	1	D	0.54964	0.969	P	0.51297	0.665	D	0.91086	0.4903	10	0.66056	D	0.02	.	19.7259	0.96164	0.0:1.0:0.0:0.0	.	415	O00116	ADAS_HUMAN	L	415;285	ENSP00000264167:P415L	ENSP00000264167:P415L	P	+	2	0	AGPS	178066132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.824000	0.75288	2.664000	0.90586	0.650000	0.86243	CCG		0.308	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			21	31	0	0	0	1	0	21	31				
COBL	23242	broad.mit.edu	37	7	51152950	51152950	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:51152950C>T	ENST00000265136.7	-	7	1174	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	COBL_ENST00000395542.2_Missense_Mutation_p.A362T|COBL_ENST00000395540.2_Missense_Mutation_p.A337T|COBL_ENST00000441453.1_Missense_Mutation_p.A337T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	337	Pro-rich.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGAGGGGGAGCTGGCGCTCGC	0.517																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1084-1086)Gct>Act		cordon-bleu WH2 repeat protein							140.0	106.0	117.0					7																	51152950		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51152950C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1009G>A	7.37:g.51152950C>T	ENSP00000265136:p.Ala337Thr					COBL_ENST00000395540.2_Missense_Mutation_p.A337T|COBL_ENST00000265136.7_Missense_Mutation_p.A337T|COBL_ENST00000441453.1_Missense_Mutation_p.A337T	p.A362T			O75128	COBL_HUMAN			8	1268	-	Glioma(55;0.08)		302					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1084G>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.931650|4.931650	0.92389|0.92389	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000395540;ENST00000441453|ENST00000452534	T;T;T;T;T;T|.	0.53857|.	0.6;0.6;0.6;0.6;0.6;0.6|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cordon-bleu domain (1);|.	0.331422|.	0.22030|.	N|.	0.065618|.	T|T	0.60612|0.60612	0.2282|0.2282	L|L	0.40543|0.40543	1.245|1.245	0.35046|0.35046	D|D	0.760226|0.760226	D;P;D;D;D|.	0.76494|.	0.999;0.893;0.999;0.993;0.999|.	D;P;D;D;D|.	0.70487|.	0.964;0.462;0.935;0.915;0.969|.	T|T	0.66023|0.66023	-0.6026|-0.6026	10|5	0.32370|.	T|.	0.25|.	.|.	16.8034|16.8034	0.85619|0.85619	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337;337;337;362|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	T|N	337;229;165;362;337;337|255	ENSP00000265136:A337T;ENSP00000401204:A229T;ENSP00000413498:A165T;ENSP00000378912:A362T;ENSP00000378910:A337T;ENSP00000399500:A337T|.	ENSP00000265136:A337T|.	A|S	-|-	1|2	0|0	COBL|COBL	51120444|51120444	0.811000|0.811000	0.29063|0.29063	0.997000|0.997000	0.53966|0.53966	0.915000|0.915000	0.54546|0.54546	2.051000|2.051000	0.41307|0.41307	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.517	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	29	0	0	0	1	0	10	29				
FAT4	79633	broad.mit.edu	37	4	126369942	126369942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126369942G>T	ENST00000394329.3	+	9	7784	c.7771G>T	c.(7771-7773)Gga>Tga	p.G2591*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G889*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2591	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCATCACAGGATCCTCTTT	0.423																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7771-7773)Gga>Tga		FAT atypical cadherin 4							55.0	53.0	53.0					4																	126369942		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369942G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7771G>T	4.37:g.126369942G>T	ENSP00000377862:p.Gly2591*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.G889*	p.G2591*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7784	+			2591			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.7771G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	46	12.852885	0.99701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.83	5.83	0.93111	.	0.000000	0.34362	U	0.004033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1337	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	2591;889	.	ENSP00000335169:G889X	G	+	1	0	FAT4	126589392	1.000000	0.71417	0.099000	0.21106	0.004000	0.04260	9.666000	0.98612	2.753000	0.94483	0.650000	0.86243	GGA		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	27	1	0	0.150653	1	0.151081	4	27				
MTMR12	54545	broad.mit.edu	37	5	32230195	32230195	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32230195G>A	ENST00000382142.3	-	16	2103	c.1933C>T	c.(1933-1935)Cgt>Tgt	p.R645C	MTMR12_ENST00000264934.5_Missense_Mutation_p.R535C|MTMR12_ENST00000280285.5_Missense_Mutation_p.R591C|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	645						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGAATCCAACGTAGGTAGCGC	0.502																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1933-1935)Cgt>Tgt		myotubularin related protein 12							104.0	109.0	108.0					5																	32230195		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230195G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1933C>T	5.37:g.32230195G>A	ENSP00000371577:p.Arg645Cys					MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.R591C|MTMR12_ENST00000264934.5_Missense_Mutation_p.R535C	p.R645C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2103	-			645					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1933C>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809937	0.70797	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.66280	-0.2;-0.2;-0.2	5.78	5.78	0.91487	.	0.055846	0.64402	D	0.000001	T	0.80105	0.4562	M	0.71581	2.175	0.49389	D	0.999785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.80901	-0.1175	10	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	535;591;645	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	591;645;535	ENSP00000280285:R591C;ENSP00000371577:R645C;ENSP00000264934:R535C	ENSP00000264934:R535C	R	-	1	0	MTMR12	32265952	1.000000	0.71417	0.998000	0.56505	0.226000	0.24999	7.805000	0.86005	2.733000	0.93635	0.561000	0.74099	CGT		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		69	89	0	0	0	1	0	69	89				
VEPH1	79674	broad.mit.edu	37	3	156983435	156983435	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156983435G>A	ENST00000362010.2	-	13	2452	c.2145C>T	c.(2143-2145)ggC>ggT	p.G715G	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G670G|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G670G|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.G715G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	715						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGAGAGGCTGGCCATCTTGAT	0.378																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2143-2145)ggC>ggT		ventricular zone expressed PH domain-containing 1							134.0	125.0	128.0					3																	156983435		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156983435G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2145C>T	3.37:g.156983435G>A						RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G670G|VEPH1_ENST00000392832.2_Silent_p.G715G|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Silent_p.G670G	p.G715G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		13	2452	-			715					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2145C>T	CCDS3179.1																																																																																				0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		28	64	0	0	0	1	0	28	64				
NBPF1	55672	broad.mit.edu	37	1	16893830	16893830	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893830G>A	ENST00000432949.1	-	8	892	c.893C>T	c.(892-894)gCt>gTt	p.A298V	NBPF1_ENST00000430580.2_Silent_p.L895L|NBPF1_ENST00000420031.2_3'UTR			Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	0						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTCATCCAGCAGCTCCCTG	0.483																																						ENST00000432949.1																			0											c.(892-894)gCt>gTt		neuroblastoma breakpoint family, member 1							282.0	259.0	267.0					1																	16893830		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893830G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000432949.1:c.893C>T	1.37:g.16893830G>A	ENSP00000473697:p.Ala298Val					NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000430580.2_Silent_p.L895L	p.A298V			Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	8	892	-			0					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000432949.1	37	c.893C>T																																																																																					0.483	NBPF1-203	KNOWN	basic	protein_coding	protein_coding		NM_017940		15	2261	0	0	0	1	0	15	2261				
STK11	6794	broad.mit.edu	37	19	1226491	1226491	+	Missense_Mutation	SNP	C	C	T	rs535449626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1226491C>T	ENST00000326873.7	+	9	2320	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	383					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGGACAGCGCCGGGGCCT	0.687		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		14776	0.0		0.0	False		,,,				2504	0.0					ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		21	Whole gene deletion(20)|Unknown(1)	p.0?(20)|p.?(1)	cervix(14)|lung(2)|oesophagus(1)|breast(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(1147-1149)Cgc>Tgc		serine/threonine kinase 11							15.0	19.0	18.0					19																	1226491		2005	4143	6148	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1226491C>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.1147C>T	19.37:g.1226491C>T	ENSP00000324856:p.Arg383Cys	TSP Lung(3;<1E-08)					p.R383C	NM_000455.4	NP_000446.1	Q15831	STK11_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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2320	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	383					B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.1147C>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.057329	0.36277	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	T	0.69306	-0.39	4.32	3.31	0.37934	.	0.373473	0.32655	N	0.005804	T	0.42200	0.1192	N	0.08118	0	0.28176	N	0.928378	B	0.32893	0.389	B	0.27796	0.083	T	0.37150	-0.9718	10	0.46703	T	0.11	-32.5559	10.4319	0.44413	0.8351:0.1649:0.0:0.0	.	383	Q15831	STK11_HUMAN	C	383	ENSP00000324856:R383C	ENSP00000324856:R383C	R	+	1	0	STK11	1177491	0.995000	0.38212	0.989000	0.46669	0.621000	0.37620	2.998000	0.49465	0.811000	0.34303	-0.376000	0.06991	CGC		0.687	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		5	14	0	0	0	1	0	5	14				
PKHD1	5314	broad.mit.edu	37	6	51918880	51918880	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:51918880C>A	ENST00000371117.3	-	20	2195	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K640N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	640					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K640N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTGGTATTCTTTACCATGT	0.493																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.K640N(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1918-1920)aaG>aaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							143.0	117.0	126.0					6																	51918880		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51918880C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1920G>T	6.37:g.51918880C>A	ENSP00000360158:p.Lys640Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.K640N	p.K640N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			20	2195	-	Lung NSC(77;0.0605)		640					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.1920G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754618	0.31046	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.09;-2.29	5.36	5.36	0.76844	.	0.162599	0.42548	D	0.000683	T	0.74321	0.3701	M	0.64997	1.995	0.31366	N	0.680748	B;P	0.39480	0.347;0.675	B;B	0.30782	0.12;0.111	T	0.76903	-0.2787	10	0.54805	T	0.06	.	9.8404	0.40996	0.0:0.8427:0.0:0.1573	.	640;640	P08F94-2;P08F94	.;PKHD1_HUMAN	N	640	ENSP00000360158:K640N;ENSP00000341097:K640N	ENSP00000341097:K640N	K	-	3	2	PKHD1	52026839	0.959000	0.32827	0.987000	0.45799	0.136000	0.21042	0.725000	0.25970	2.516000	0.84829	0.591000	0.81541	AAG		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		22	25	1	0	2.89027e-11	1	3.10618e-11	22	25				
TNPO1	3842	broad.mit.edu	37	5	72183988	72183988	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:72183988C>T	ENST00000337273.5	+	13	1813	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	TNPO1_ENST00000506351.2_Missense_Mutation_p.R455C|TNPO1_ENST00000454282.1_Missense_Mutation_p.R413C|TNPO1_ENST00000523768.1_Missense_Mutation_p.R413C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	463					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGCTCTTGTGCGTTCCATAAC	0.463																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1387-1389)Cgt>Tgt		transportin 1							119.0	116.0	117.0					5																	72183988		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72183988C>T	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1387C>T	5.37:g.72183988C>T	ENSP00000336712:p.Arg463Cys					TNPO1_ENST00000506351.2_Missense_Mutation_p.R455C|TNPO1_ENST00000523768.1_Missense_Mutation_p.R413C|TNPO1_ENST00000454282.1_Missense_Mutation_p.R413C	p.R463C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	13	1813	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	463					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1387C>T	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168767	0.94768	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90800	0.4693	10	0.87932	D	0	-13.0346	19.8805	0.96895	0.0:1.0:0.0:0.0	.	413;463	Q92973-3;Q92973	.;TNPO1_HUMAN	C	463;413;413;455	ENSP00000336712:R463C;ENSP00000398524:R413C;ENSP00000428899:R413C;ENSP00000425118:R455C	ENSP00000336712:R463C	R	+	1	0	TNPO1	72219744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.710000	0.68392	2.778000	0.95560	0.655000	0.94253	CGT		0.463	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		16	37	0	0	0	1	0	16	37				
ZNF33B	7582	broad.mit.edu	37	10	43078550	43078550	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43078550A>G	ENST00000486187.1	-	0	432							Q06732	ZN33B_HUMAN	zinc finger protein 33B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTCCAGGATCAGTGCATGAAC	0.512																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000486187.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29								zinc finger protein 33B																																						7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43078550A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014		10.37:g.43078550A>G										Q06732	ZN33B_HUMAN			0	432	-								Q06731|Q32MA2|Q86XY8|Q8NDW3	RNA	SNP	ENST00000486187.1	37																																																																																						0.512	ZNF33B-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000047683.1	NM_006955		11	16	0	0	0	1	0	11	16				
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149677669G>A	ENST00000328668.7	-	2	1397	c.818C>T	c.(817-819)gCt>gTt	p.A273V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(817-819)gCt>gTt		arylsulfatase family, member I							43.0	37.0	39.0					5																	149677669		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677669G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.818C>T	5.37:g.149677669G>A	ENSP00000333395:p.Ala273Val						p.A273V	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1397	-			273					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.818C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732375	0.89482	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96830	-4.14;-4.14	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98083	0.9368	M	0.83384	2.64	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.98745	1.0718	10	0.62326	D	0.03	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	273	Q5FYB1	ARSI_HUMAN	V	273;130	ENSP00000333395:A273V;ENSP00000426879:A130V	ENSP00000333395:A273V	A	-	2	0	ARSI	149657862	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.501000	0.66950	2.460000	0.83146	0.561000	0.74099	GCT		0.597	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		6	17	0	0	0	1	0	6	17				
STAB1	23166	broad.mit.edu	37	3	52557342	52557342	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52557342C>A	ENST00000321725.6	+	64	7201	c.7125C>A	c.(7123-7125)ggC>ggA	p.G2375G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2375	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAATGAAGGCTTTGTGGACA	0.562																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7123-7125)ggC>ggA		stabilin 1							143.0	133.0	136.0					3																	52557342		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557342C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7125C>A	3.37:g.52557342C>A							p.G2375G	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	64	7201	+			2375			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.7125C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.491	0.275604	0.10403	.	.	ENSG00000010327	ENST00000469989	.	.	.	5.92	1.92	0.25849	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48714	-0.9011	4	.	.	.	-20.2404	8.4075	0.32622	0.0:0.6667:0.1223:0.211	.	.	.	.	I	17	.	.	L	+	1	0	STAB1	52532382	0.989000	0.36119	0.984000	0.44739	0.694000	0.40290	0.063000	0.14410	0.433000	0.26313	-0.258000	0.10820	CTT		0.562	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	65	1	0	2.42023e-17	1	2.66278e-17	32	65				
CACNG4	27092	broad.mit.edu	37	17	65021029	65021029	+	Silent	SNP	C	C	T	rs139336374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65021029C>T	ENST00000262138.3	+	3	360	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGCTCCTGCTGGGTGGCCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		19024	0.001		0.0	False		,,,				2504	0.0					ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(358-360)Ctg>Ttg		calcium channel, voltage-dependent, gamma subunit 4		C		2,4404	4.2+/-10.8	0,2,2201	107.0	93.0	98.0		358	3.8	0.9	17	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	CACNG4	NM_014405.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		120/328	65021029	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021029C>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.358C>T	17.37:g.65021029C>T							p.L120L	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	360	+	all_cancers(12;9.86e-11)		120					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.358C>T	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		29	31	0	0	0	1	0	29	31				
VPS52	6293	broad.mit.edu	37	6	33236399	33236399	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33236399C>A	ENST00000445902.2	-	7	794	c.576G>T	c.(574-576)gaG>gaT	p.E192D	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.E67D|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	192					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGAACCTGGGCTCTGTCACTG	0.592																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(574-576)gaG>gaT		vacuolar protein sorting 52 homolog (S. cerevisiae)							53.0	51.0	52.0					6																	33236399		1510	2708	4218	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236399C>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.576G>T	6.37:g.33236399C>A	ENSP00000409952:p.Glu192Asp					VPS52_ENST00000436044.2_Missense_Mutation_p.E67D|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.E192D	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			7	794	-			192					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.576G>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542644	0.27563	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.1	1.18	0.20946	.	0.153007	0.56097	D	0.000022	T	0.16811	0.0404	L	0.33245	0.995	0.41139	D	0.985948	B;B;B	0.18863	0.031;0.0;0.031	B;B;B	0.27796	0.083;0.003;0.083	T	0.07139	-1.0788	9	0.27082	T	0.32	-22.9928	1.4044	0.02277	0.1483:0.4601:0.1441:0.2475	.	170;67;192	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	D	192;170;67	.	ENSP00000414785:E170D	E	-	3	2	VPS52	33344377	0.995000	0.38212	1.000000	0.80357	0.876000	0.50452	0.317000	0.19487	0.439000	0.26476	-1.023000	0.02433	GAG		0.592	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		17	17	1	0	2.35188e-11	1	2.53156e-11	17	17				
NXPE1	120400	broad.mit.edu	37	11	114393111	114393111	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114393111A>G	ENST00000424269.1	-	5	1222	c.1223T>C	c.(1222-1224)tTc>tCc	p.F408S	NXPE1_ENST00000251921.2_Missense_Mutation_p.F266S|NXPE1_ENST00000536271.1_Missense_Mutation_p.F124S			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	408						extracellular region (GO:0005576)											GTAGAGCTGGAAAGTGACGAA	0.423																																						ENST00000536271.1																			0											c.(370-372)tTc>tCc		neurexophilin and PC-esterase domain family, member 1							151.0	150.0	150.0					11																	114393111		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114393111A>G	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1223T>C	11.37:g.114393111A>G	ENSP00000411690:p.Phe408Ser					NXPE1_ENST00000424269.1_Missense_Mutation_p.F408S|NXPE1_ENST00000251921.2_Missense_Mutation_p.F266S	p.F124S							4	1614	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.371T>C		.	.	.	.	.	.	.	.	.	.	A	6.021	0.372194	0.11409	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.15834	2.39;2.39;2.39	4.44	-6.98	0.01611	.	5.161920	0.00166	N	0.000008	T	0.04588	0.0125	N	0.01529	-0.815	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27400	-1.0075	10	0.20519	T	0.43	.	2.1283	0.03744	0.2952:0.1115:0.3745:0.2188	.	408	Q8N323	FA55A_HUMAN	S	124;266;408	ENSP00000445200:F124S;ENSP00000251921:F266S;ENSP00000411690:F408S	ENSP00000251921:F266S	F	-	2	0	FAM55A	113898321	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.627000	0.05521	-1.063000	0.03177	-0.344000	0.07964	TTC		0.423	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		9	68	0	0	0	1	0	9	68				
CACHD1	57685	broad.mit.edu	37	1	65095157	65095157	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65095157C>T	ENST00000371073.2	+	5	637	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R162C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	213					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTACGAACACCGCAGTAGGTA	0.388																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(637-639)Cgc>Tgc		cache domain containing 1							132.0	120.0	124.0					1																	65095157		1872	4113	5985	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65095157C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.637C>T	1.37:g.65095157C>T	ENSP00000360113:p.Arg213Cys					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R162C	p.R213C			Q5VU97	CAHD1_HUMAN			5	637	+			213					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.637C>T		.	.	.	.	.	.	.	.	.	.	C	18.70	3.680275	0.68042	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.56275	0.47;0.51	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.61917	-0.6964	10	0.87932	D	0	-24.2226	19.9598	0.97242	0.0:1.0:0.0:0.0	.	213	Q5VU97	CAHD1_HUMAN	C	213;162	ENSP00000360113:R213C;ENSP00000290039:R162C	ENSP00000290039:R162C	R	+	1	0	CACHD1	64867745	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.476000	0.66793	2.716000	0.92895	0.655000	0.94253	CGC		0.388	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		30	48	0	0	0	1	0	30	48				
IFT140	9742	broad.mit.edu	37	16	1634265	1634265	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1634265G>A	ENST00000426508.2	-	11	1675	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	438					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCAGGCTGTGTGCGACCCCC	0.627																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1312-1314)Cac>Tac		intraflagellar transport 140 homolog (Chlamydomonas)							48.0	39.0	42.0					16																	1634265		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1634265G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1312C>T	16.37:g.1634265G>A	ENSP00000406012:p.His438Tyr					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.H438Y	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			11	1675	-		Hepatocellular(780;0.219)	438					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1312C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	4.295	0.054036	0.08291	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.57752	0.38	5.51	2.33	0.28932	.	0.545310	0.20826	N	0.084977	T	0.37376	0.1001	L	0.45698	1.435	0.33626	D	0.605449	B;B	0.10296	0.002;0.003	B;B	0.13407	0.003;0.009	T	0.42189	-0.9466	10	0.02654	T	1	.	8.7345	0.34519	0.3836:0.0:0.6164:0.0	.	438;163	Q96RY7;B4DR58	IF140_HUMAN;.	Y	438	ENSP00000406012:H438Y	ENSP00000380562:H438Y	H	-	1	0	IFT140	1574266	0.974000	0.33945	0.312000	0.25196	0.015000	0.08874	1.765000	0.38481	0.324000	0.23333	0.655000	0.94253	CAC		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		10	9	0	0	0	1	0	10	9				
IGHG4	3503	broad.mit.edu	37	14	106090913	106090913	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106090913C>T	ENST00000390543.2	-	0	883							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTGCCACCTGCTCTTGTCCAC	0.572																																						ENST00000390543.2																			0																				185.0	266.0	240.0					14																	106090913		2075	4227	6302			0							g.chr14:106090913C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090913C>T														0	883	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.572	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		57	80	0	0	0	1	0	57	80				
CELSR2	1952	broad.mit.edu	37	1	109795355	109795355	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109795355C>T	ENST00000271332.3	+	1	2715	c.2654C>T	c.(2653-2655)gCc>gTc	p.A885V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	885	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGAACGTGGCCCAGTATGTC	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2653-2655)gCc>gTc		cadherin, EGF LAG seven-pass G-type receptor 2							91.0	82.0	85.0					1																	109795355		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795355C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2654C>T	1.37:g.109795355C>T	ENSP00000271332:p.Ala885Val						p.A885V	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2715	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	885			Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2654C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	16.29	3.082902	0.55861	.	.	ENSG00000143126	ENST00000271332	T	0.61859	0.07	4.39	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53334	0.1790	M	0.74546	2.27	0.44579	D	0.997548	B	0.27700	0.186	B	0.34824	0.19	T	0.60944	-0.7162	9	0.54805	T	0.06	.	17.5783	0.87957	0.0:1.0:0.0:0.0	.	885	Q9HCU4	CELR2_HUMAN	V	885	ENSP00000271332:A885V	ENSP00000271332:A885V	A	+	2	0	CELSR2	109596878	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.723000	0.68492	2.474000	0.83562	0.456000	0.33151	GCC		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		14	28	0	0	0	1	0	14	28				
FBXL16	146330	broad.mit.edu	37	16	747093	747093	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:747093G>A	ENST00000397621.1	-	2	644	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.L105F	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	105	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TACCAGAAGAGCCCATTGAGG	0.682																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(313-315)Ctc>Ttc		F-box and leucine-rich repeat protein 16							23.0	26.0	25.0					16																	747093		2198	4298	6496	SO:0001583	missense	146330							g.chr16:747093G>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.313C>T	16.37:g.747093G>A	ENSP00000380746:p.Leu105Phe					FBXL16_ENST00000324361.5_Missense_Mutation_p.L105F	p.L105F	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			2	644	-		Hepatocellular(780;0.0218)	105			F-box.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.313C>T	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	5.209	0.224029	0.09863	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.22945	1.93;1.93	4.25	3.29	0.37713	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.36672	1.1	0.44247	D	0.997094	B	0.25667	0.131	B	0.30401	0.115	T	0.04373	-1.0956	10	0.42905	T	0.14	.	9.3707	0.38252	0.1839:0.0:0.8161:0.0	.	105	Q8N461	FXL16_HUMAN	F	105	ENSP00000380746:L105F;ENSP00000318674:L105F	ENSP00000318674:L105F	L	-	1	0	FBXL16	687094	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	4.216000	0.58540	0.774000	0.33427	0.313000	0.20887	CTC		0.682	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		7	17	0	0	0	1	0	7	17				
SLX4	84464	broad.mit.edu	37	16	3639505	3639505	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3639505C>T	ENST00000294008.3	-	12	4774	c.4134G>A	c.(4132-4134)ccG>ccA	p.P1378P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1378	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGGCCCAGGCGGCGAGTGTT	0.657								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4132-4134)ccG>ccA	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							44.0	49.0	48.0					16																	3639505		2196	4299	6495	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639505C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4134G>A	16.37:g.3639505C>T							p.P1378P	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4774	-			1378			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.4134G>A	CCDS10506.2																																																																																				0.657	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		4	49	0	0	0	1	0	4	49				
CYP26B1	56603	broad.mit.edu	37	2	72359683	72359683	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1210-1212)ccC>ccT		cytochrome P450, family 26, subfamily B, polypeptide 1							42.0	38.0	39.0					2																	72359683		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359683G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1212C>T	2.37:g.72359683G>A						CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	p.P404P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1415	-			404					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.1212C>T	CCDS1919.1																																																																																				0.612	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		3	13	0	0	0	1	0	3	13				
GCDH	2639	broad.mit.edu	37	19	13007110	13007110	+	Missense_Mutation	SNP	C	C	T	rs549254182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13007110C>T	ENST00000222214.5	+	8	938	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	GCDH_ENST00000457854.1_Missense_Mutation_p.R243W|GCDH_ENST00000591470.1_Missense_Mutation_p.R243W|GCDH_ENST00000422947.2_Missense_Mutation_p.R199W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	243					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAAGGGGATGCGGGGTCTCTC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18113	0.0		0.0	False		,,,				2504	0.0				GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(727-729)Cgg>Tgg		glutaryl-CoA dehydrogenase							68.0	68.0	68.0					19																	13007110		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13007110C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.727C>T	19.37:g.13007110C>T	ENSP00000222214:p.Arg243Trp					GCDH_ENST00000591470.1_Missense_Mutation_p.R243W|GCDH_ENST00000457854.1_Missense_Mutation_p.R243W|GCDH_ENST00000422947.2_Missense_Mutation_p.R199W	p.R243W			Q92947	GCDH_HUMAN			8	938	+			243					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.727C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092705	0.56075	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.98914	-5.23;-5.23;-5.23	5.35	4.25	0.50352	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.129840	0.51477	D	0.000082	D	0.97629	0.9223	L	0.38175	1.15	0.53688	D	0.99997	D;D;D;D;D	0.69078	0.997;0.989;0.977;0.97;0.987	P;P;P;B;B	0.56514	0.599;0.8;0.462;0.236;0.415	D	0.96848	0.9623	10	0.87932	D	0	.	10.7842	0.46395	0.298:0.7019:0.0:0.0	.	199;79;210;243;243	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	W	243;243;210;199	ENSP00000394872:R243W;ENSP00000222214:R243W;ENSP00000394821:R199W	ENSP00000222214:R243W	R	+	1	2	GCDH	12868110	0.998000	0.40836	1.000000	0.80357	0.622000	0.37654	1.343000	0.33930	2.663000	0.90544	0.655000	0.94253	CGG		0.607	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			16	42	0	0	0	1	0	16	42				
PPP1R3F	89801	broad.mit.edu	37	X	49142941	49142941	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:49142941G>A	ENST00000055335.6	+	4	1805	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E268K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E251K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	597					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGCCCCAAGGAATCGCCTCC	0.617																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1789-1791)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3F							31.0	26.0	28.0					X																	49142941		2202	4300	6502	SO:0001583	missense	89801					integral to membrane		g.chrX:49142941G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1789G>A	X.37:g.49142941G>A	ENSP00000055335:p.Glu597Lys					PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E268K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E251K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E251K	p.E597K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1805	+	Ovarian(276;0.236)		597					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1789G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627793	0.66901	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60424	0.61;0.61;0.19;0.61;0.61	5.55	5.55	0.83447	.	0.106745	0.41194	D	0.000929	T	0.63319	0.2501	L	0.29908	0.895	0.33417	D	0.579364	D;D;D	0.67145	0.994;0.994;0.996	D;D;P	0.63703	0.917;0.917;0.824	T	0.73956	-0.3819	10	0.72032	D	0.01	-9.907	13.7756	0.63050	0.0:0.0:1.0:0.0	.	268;282;597	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	251;268;597;251;251	ENSP00000420687:E251K;ENSP00000415548:E268K;ENSP00000055335:E597K;ENSP00000417535:E251K;ENSP00000365359:E251K	ENSP00000055335:E597K	E	+	1	0	PPP1R3F	49029885	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.226000	0.51254	2.321000	0.78463	0.513000	0.50165	GAA		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		8	0	0	0	0	1	0	8	0				
LRRC8A	56262	broad.mit.edu	37	9	131671496	131671496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131671496C>T	ENST00000259324.5	+	3	2576	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	LRRC8A_ENST00000372599.3_Missense_Mutation_p.R685C|LRRC8A_ENST00000372600.4_Missense_Mutation_p.R685C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	685					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTACTGCCGCAAGCTGCG	0.597																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2053-2055)Cgc>Tgc		leucine rich repeat containing 8 family, member A							107.0	103.0	105.0					9																	131671496		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671496C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2053C>T	9.37:g.131671496C>T	ENSP00000259324:p.Arg685Cys					LRRC8A_ENST00000372600.4_Missense_Mutation_p.R685C|LRRC8A_ENST00000372599.3_Missense_Mutation_p.R685C	p.R685C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2576	+			685					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2053C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411232	0.25465	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.10477	2.87;2.87;2.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00086	-1.2096	10	0.49607	T	0.09	.	15.2417	0.73476	0.1407:0.8593:0.0:0.0	.	685	Q8IWT6	LRC8A_HUMAN	C	685	ENSP00000361682:R685C;ENSP00000361680:R685C;ENSP00000259324:R685C	ENSP00000259324:R685C	R	+	1	0	LRRC8A	130711317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.860000	0.55995	2.677000	0.91161	0.561000	0.74099	CGC		0.597	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		5	25	0	0	0	1	0	5	25				
GPR39	2863	broad.mit.edu	37	2	133403069	133403069	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133403069G>A	ENST00000329321.3	+	2	1721	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	418					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCGAGGCCGAGCCCCAGTC	0.562																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1252-1254)Gag>Aag		G protein-coupled receptor 39							55.0	61.0	59.0					2																	133403069		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403069G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1252G>A	2.37:g.133403069G>A	ENSP00000327417:p.Glu418Lys					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.E418K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1721	+			418					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1252G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	g	2.106	-0.404955	0.04832	.	.	ENSG00000183840	ENST00000329321	T	0.62105	0.05	5.15	-1.84	0.07809	.	3.258460	0.00817	N	0.001549	T	0.23806	0.0576	N	0.00419	-1.52	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	10	0.02654	T	1	.	6.6963	0.23201	0.5881:0.1194:0.2925:0.0	.	418	O43194	GPR39_HUMAN	K	418	ENSP00000327417:E418K	ENSP00000327417:E418K	E	+	1	0	GPR39	133119539	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.160000	0.16462	-0.450000	0.07107	-1.094000	0.02160	GAG		0.562	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			20	24	0	0	0	1	0	20	24				
HSPA13	6782	broad.mit.edu	37	21	15746111	15746111	+	Missense_Mutation	SNP	G	G	A	rs200646454		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:15746111G>A	ENST00000285667.3	-	5	1310	c.1243C>T	c.(1243-1245)Cgt>Tgt	p.R415C	HSPA13_ENST00000544452.1_Missense_Mutation_p.R207C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	415						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATGACTTGACGGATCCGAGGA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		17656	0.0		0.001	False		,,,				2504	0.0					ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1243-1245)Cgt>Tgt		heat shock protein 70kDa family, member 13							110.0	113.0	112.0					21																	15746111		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746111G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1243C>T	21.37:g.15746111G>A	ENSP00000285667:p.Arg415Cys					HSPA13_ENST00000544452.1_Missense_Mutation_p.R207C	p.R415C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			5	1310	-			415					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.1243C>T	CCDS13567.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.2	4.106115	0.77096	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01092	5.35;5.35	5.65	5.65	0.86999	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00579	-1.1661	10	0.87932	D	0	-4.2409	20.1	0.97870	0.0:0.0:1.0:0.0	.	415	P48723	HSP13_HUMAN	C	415;207	ENSP00000285667:R415C;ENSP00000441986:R207C	ENSP00000285667:R415C	R	-	1	0	HSPA13	14667982	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.229000	0.72294	2.829000	0.97493	0.655000	0.94253	CGT		0.478	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			31	18	0	0	0	1	0	31	18				
CCDC7	79741	broad.mit.edu	37	10	33018260	33018260	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:33018260C>T	ENST00000375030.2	+	13	1343	c.725C>T	c.(724-726)aCg>aTg	p.T242M	C10orf68_ENST00000375025.4_Splice_Site_p.T234M|C10orf68_ENST00000375028.3_Splice_Site_p.T210M			Q9H943	CJ068_HUMAN		234										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCTATTTAGCGTTTCCTTTA	0.313																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.e13-1		chromosome 10 open reading frame 68							50.0	54.0	53.0					10																	33018260		2200	4291	6491	SO:0001630	splice_region_variant	79741							g.chr10:33018260C>T																												ENST00000375030.2:c.725-1C>T	10.37:g.33018260C>T						C10orf68_ENST00000375025.4_Splice_Site_p.T234_splice|C10orf68_ENST00000375028.3_Splice_Site_p.T210_splice	p.T242_splice			Q9H943	CJ068_HUMAN			13	1343	+			234					B0QZ71|Q08AN7|Q8N7T7	Splice_Site	SNP	ENST00000375030.2	37	c.724_splice		.	.	.	.	.	.	.	.	.	.	.	5.241	0.230020	0.09969	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.30448	1.57;1.53;1.56;1.55	2.0	1.08	0.20341	.	.	.	.	.	T	0.23846	0.0577	L	0.53249	1.67	0.09310	N	0.999999	B;B;B;B	0.22541	0.015;0.005;0.053;0.071	B;B;B;B	0.15870	0.004;0.004;0.014;0.012	T	0.21930	-1.0231	8	.	.	.	.	4.7491	0.13052	0.0:0.81:0.0:0.19	.	151;234;210;242	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	M	234;242;210;234;182	ENSP00000303710:T234M;ENSP00000364170:T242M;ENSP00000364168:T210M;ENSP00000364165:T234M	.	T	+	2	0	C10orf68	33058266	0.139000	0.22563	0.179000	0.23059	0.031000	0.12232	-0.117000	0.10708	0.395000	0.25257	-0.347000	0.07816	ACG		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		Missense_Mutation	18	38	0	0	0	1	0	18	38				
RHOBTB2	23221	broad.mit.edu	37	8	22862091	22862091	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22862091G>A	ENST00000251822.6	+	2	681	c.144G>A	c.(142-144)acG>acA	p.T48T	RHOBTB2_ENST00000522948.1_Silent_p.T55T|RHOBTB2_ENST00000519685.1_Silent_p.T70T|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	48	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTGGCCACGCATGTGCCCA	0.617											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(142-144)acG>acA		Rho-related BTB domain containing 2							81.0	67.0	72.0					8																	22862091		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22862091G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.144G>A	8.37:g.22862091G>A			OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RHOBTB2_ENST00000519685.1_Silent_p.T70T|RHOBTB2_ENST00000522948.1_Silent_p.T55T|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000523884.1_RNA	p.T48T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	2	681	+		Prostate(55;0.0513)|Breast(100;0.214)	48			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.144G>A	CCDS6034.1																																																																																				0.617	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			7	15	0	0	0	1	0	7	15				
DNAH3	55567	broad.mit.edu	37	16	21110052	21110052	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21110052C>A	ENST00000261383.3	-	17	2404	c.2405G>T	c.(2404-2406)aGa>aTa	p.R802I	DNAH3_ENST00000415178.1_Missense_Mutation_p.R802I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	802	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCAGTTCTCTGTGGTAGCC	0.403																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2404-2406)aGa>aTa		dynein, axonemal, heavy chain 3							145.0	142.0	143.0					16																	21110052		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21110052C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2405G>T	16.37:g.21110052C>A	ENSP00000261383:p.Arg802Ile					DNAH3_ENST00000415178.1_Missense_Mutation_p.R802I	p.R802I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	17	2404	-			802			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2405G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	8.534	0.871689	0.17322	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.23348	1.91;2.07	5.45	1.76	0.24704	.	0.309655	0.29995	N	0.010674	T	0.15782	0.0380	L	0.34521	1.04	0.43122	D	0.994843	B	0.25955	0.138	B	0.17433	0.018	T	0.06716	-1.0811	10	0.51188	T	0.08	.	5.8291	0.18570	0.0:0.2928:0.1316:0.5756	.	802	Q8TD57	DYH3_HUMAN	I	802	ENSP00000261383:R802I;ENSP00000394245:R802I	ENSP00000261383:R802I	R	-	2	0	DNAH3	21017553	1.000000	0.71417	0.942000	0.38095	0.079000	0.17450	1.262000	0.32992	0.370000	0.24538	-0.290000	0.09829	AGA		0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		51	99	1	0	7.92265e-33	1	8.89139e-33	51	99				
MOSPD3	64598	broad.mit.edu	37	7	100212493	100212493	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100212493C>T	ENST00000393950.2	+	4	797	c.515C>T	c.(514-516)cCc>cTc	p.P172L	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P162L|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P172L|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P172L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	172					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTCTCAGACCCCCGCCAGCAA	0.587																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(514-516)cCc>cTc		motile sperm domain containing 3							38.0	43.0	41.0					7																	100212493		2202	4300	6502	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100212493C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.515C>T	7.37:g.100212493C>T	ENSP00000377522:p.Pro172Leu					MOSPD3_ENST00000424091.2_Missense_Mutation_p.P162L|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P172L|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P172L	p.P172L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	797	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		172					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.515C>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796072	0.50208	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	3.9	3.01	0.34805	.	0.849644	0.10129	N	0.712242	T	0.23611	0.0571	N	0.08118	0	0.18873	N	0.999986	B;B	0.13594	0.008;0.001	B;B	0.14578	0.011;0.002	T	0.16600	-1.0397	9	0.31617	T	0.26	-0.1767	9.6628	0.39965	0.0:0.7881:0.2119:0.0	.	162;172	C9JE89;O75425	.;MSPD3_HUMAN	L	172;172;172;172;162;158	.	ENSP00000223054:P172L	P	+	2	0	MOSPD3	100050429	0.023000	0.18921	0.056000	0.19401	0.825000	0.46686	1.181000	0.32017	1.218000	0.43458	0.563000	0.77884	CCC		0.587	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		11	19	0	0	0	1	0	11	19				
MED14	9282	broad.mit.edu	37	X	40556412	40556412	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:40556412C>T	ENST00000324817.1	-	13	1632	c.1514G>A	c.(1513-1515)tGc>tAc	p.C505Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	505	Interaction with SREBF1.|Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACTGCTTGCAACGCTGTTG	0.363																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1513-1515)tGc>tAc		mediator complex subunit 14							88.0	75.0	80.0					X																	40556412		2203	4300	6503	SO:0001583	missense	9282				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40556412C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1514G>A	X.37:g.40556412C>T	ENSP00000323720:p.Cys505Tyr						p.C505Y	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			13	1632	-			505			Interaction with SREBF1.|Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.1514G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965771	0.74131	.	.	ENSG00000180182	ENST00000324817	T	0.41065	1.01	5.68	5.68	0.88126	.	0.084026	0.85682	D	0.000000	T	0.44603	0.1301	L	0.59436	1.845	0.80722	D	1	B	0.18741	0.03	B	0.11329	0.006	T	0.31475	-0.9942	10	0.51188	T	0.08	.	18.742	0.91777	0.0:1.0:0.0:0.0	.	505	O60244	MED14_HUMAN	Y	505	ENSP00000323720:C505Y	ENSP00000323720:C505Y	C	-	2	0	MED14	40441356	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.733000	0.68571	2.371000	0.80710	0.538000	0.68166	TGC		0.363	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		24	5	0	0	0	1	0	24	5				
ADAM28	10863	broad.mit.edu	37	8	24208809	24208809	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:24208809G>A	ENST00000265769.4	+	20	2274	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C470Y|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	722					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTAAAGGCTGTTCAACCCCA	0.453																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2164-2166)Gtt>Att		ADAM metallopeptidase domain 28							142.0	131.0	135.0					8																	24208809		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24208809G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2164G>A	8.37:g.24208809G>A	ENSP00000265769:p.Val722Ile					RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.C470Y|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.V722I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	20	2274	+		Prostate(55;0.0959)	722					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.2164G>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.328077|1.328077	0.24080|0.24080	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000397649;ENST00000521629;ENST00000518326|ENST00000265769	T|T	0.01787|0.01527	4.64|4.8	4.46|4.46	0.542|0.542	0.17174|0.17174	.|.	.|.	.|.	.|.	.|.	T|T	0.01387|0.01387	0.0045|0.0045	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.47674|0.47674	-0.9099|-0.9099	7|9	0.87932|0.30854	D|T	0|0.27	.|.	5.1749|5.1749	0.15129|0.15129	0.1831:0.3221:0.4948:0.0|0.1831:0.3221:0.4948:0.0	.|.	.|722;722	.|B2RMV5;Q9UKQ2	.|.;ADA28_HUMAN	Y|I	470;354;147|722	ENSP00000380770:C470Y|ENSP00000265769:V722I	ENSP00000380770:C470Y|ENSP00000265769:V722I	C|V	+|+	2|1	0|0	ADAM28|ADAM28	24264754|24264754	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.445000|0.445000	0.32107|0.32107	0.084000|0.084000	0.14891|0.14891	0.086000|0.086000	0.17137|0.17137	0.558000|0.558000	0.71614|0.71614	TGT|GTT		0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		18	27	0	0	0	1	0	18	27				
SRM	6723	broad.mit.edu	37	1	11115092	11115092	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11115092G>A	ENST00000376957.2	-	7	895	c.815C>T	c.(814-816)gCg>gTg	p.A272V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	272					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CTGCATCTGCGCCACCTGCTG	0.632																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(814-816)gCg>gTg		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						39.0	42.0	41.0					1																	11115092		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115092G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.815C>T	1.37:g.11115092G>A	ENSP00000366156:p.Ala272Val						p.A272V	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	895	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	272					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.815C>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	8.434	0.849234	0.17034	.	.	ENSG00000116649	ENST00000376957	T	0.76186	-1.0	5.29	2.83	0.33086	.	0.211095	0.47852	D	0.000202	T	0.53400	0.1794	L	0.27053	0.805	0.25713	N	0.985464	B	0.30851	0.297	B	0.15870	0.014	T	0.37596	-0.9699	10	0.27785	T	0.31	.	7.4297	0.27120	0.137:0.0:0.1549:0.7081	.	272	P19623	SPEE_HUMAN	V	272	ENSP00000366156:A272V	ENSP00000366156:A272V	A	-	2	0	SRM	11037679	0.991000	0.36638	0.511000	0.27724	0.031000	0.12232	2.221000	0.42917	0.851000	0.35264	-0.397000	0.06425	GCG		0.632	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		22	68	0	0	0	1	0	22	68				
ULK2	9706	broad.mit.edu	37	17	19750061	19750061	+	Missense_Mutation	SNP	C	C	T	rs545490794		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19750061C>T	ENST00000395544.4	-	6	957	c.458G>A	c.(457-459)cGc>cAc	p.R153H	ULK2_ENST00000361658.2_Missense_Mutation_p.R153H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TATTTTGATGCGAATACCACT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		21035	0.001		0.0	False		,,,				2504	0.0					ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(457-459)cGc>cAc		unc-51 like autophagy activating kinase 2							277.0	258.0	265.0					17																	19750061		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19750061C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.458G>A	17.37:g.19750061C>T	ENSP00000378914:p.Arg153His					ULK2_ENST00000361658.2_Missense_Mutation_p.R153H	p.R153H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			6	957	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		153			Protein kinase.		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.458G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897654	0.72639	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.23950	1.88;1.88	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.08118	0	0.80722	D	1	B	0.22211	0.066	B	0.17722	0.019	T	0.08597	-1.0714	10	0.27082	T	0.32	-16.6497	18.4836	0.90820	0.0:1.0:0.0:0.0	.	153	Q8IYT8	ULK2_HUMAN	H	153	ENSP00000354877:R153H;ENSP00000378914:R153H	ENSP00000354877:R153H	R	-	2	0	ULK2	19690653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.374000	0.79633	2.681000	0.91329	0.650000	0.86243	CGC		0.373	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		66	96	0	0	0	1	0	66	96				
PRPF4	9128	broad.mit.edu	37	9	116045694	116045694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116045694C>T	ENST00000374198.4	+	6	691	c.589C>T	c.(589-591)Cga>Tga	p.R197*	PRPF4_ENST00000374199.4_Nonsense_Mutation_p.R196*	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	197					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.R197*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGAAGAGGCCCGACTCCATAA	0.522																																						ENST00000374199.4																			1	Substitution - Nonsense(1)	p.R197*(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(586-588)Cga>Tga		pre-mRNA processing factor 4							83.0	83.0	83.0					9																	116045694		2203	4300	6503	SO:0001587	stop_gained	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116045694C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.589C>T	9.37:g.116045694C>T	ENSP00000363313:p.Arg197*					PRPF4_ENST00000374198.4_Nonsense_Mutation_p.R197*	p.R196*			O43172	PRP4_HUMAN			6	987	+			197					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Nonsense_Mutation	SNP	ENST00000374198.4	37	c.586C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605970	0.98387	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	.	.	.	5.35	5.35	0.76521	.	0.059609	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.104	0.59237	0.16:0.84:0.0:0.0	.	.	.	.	X	196;197	.	ENSP00000363313:R197X	R	+	1	2	PRPF4	115085515	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	3.332000	0.52083	2.503000	0.84419	0.563000	0.77884	CGA		0.522	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		8	33	0	0	0	1	0	8	33				
TBX10	347853	broad.mit.edu	37	11	67400480	67400480	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67400480A>G	ENST00000335385.3	-	5	731	c.644T>C	c.(643-645)tTc>tCc	p.F215S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	215					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						GAAGGACTTGAAGTTCTCCTG	0.572																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(643-645)tTc>tCc		T-box 10							294.0	256.0	269.0					11																	67400480		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67400480A>G	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.644T>C	11.37:g.67400480A>G	ENSP00000335191:p.Phe215Ser						p.F215S	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			5	731	-			215					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.644T>C	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640919	0.67244	.	.	ENSG00000167800	ENST00000335385	D	0.87887	-2.31	4.19	4.19	0.49359	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.92041	0.7478	M	0.79926	2.475	0.46437	D	0.999043	D	0.58970	0.984	P	0.61722	0.893	D	0.92890	0.6330	10	0.72032	D	0.01	.	12.3767	0.55283	1.0:0.0:0.0:0.0	.	215	O75333	TBX10_HUMAN	S	215	ENSP00000335191:F215S	ENSP00000335191:F215S	F	-	2	0	TBX10	67157056	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.207000	0.58480	1.761000	0.52028	0.459000	0.35465	TTC		0.572	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		49	73	0	0	0	1	0	49	73				
TLR7	51284	broad.mit.edu	37	X	12903784	12903784	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12903784G>T	ENST00000380659.3	+	3	296	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	53					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGACTGCACAGACAAGCATTT	0.483																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(157-159)Gac>Tac		toll-like receptor 7	Imiquimod(DB00724)						164.0	148.0	153.0					X																	12903784		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903784G>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.157G>T	X.37:g.12903784G>T	ENSP00000370034:p.Asp53Tyr						p.D53Y	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	296	+			53					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.157G>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888523	0.17540	.	.	ENSG00000196664	ENST00000380659	T	0.54479	0.57	5.92	4.12	0.48240	Leucine-rich repeat-containing N-terminal (1);	0.114767	0.64402	D	0.000019	T	0.45357	0.1338	L	0.46614	1.455	0.58432	D	0.999991	B	0.13145	0.007	B	0.15870	0.014	T	0.40739	-0.9547	10	0.49607	T	0.09	.	11.406	0.49898	0.0703:0.1223:0.8073:0.0	.	53	Q9NYK1	TLR7_HUMAN	Y	53	ENSP00000370034:D53Y	ENSP00000370034:D53Y	D	+	1	0	TLR7	12813705	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	4.699000	0.61796	1.250000	0.43966	-0.233000	0.12211	GAC		0.483	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		24	50	1	0	1.66031e-10	1	1.77558e-10	24	50				
ALDH1L2	160428	broad.mit.edu	37	12	105462663	105462663	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:105462663C>A	ENST00000258494.9	-	4	569		c.e4-1		ALDH1L2_ENST00000424857.2_Splice_Site	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AATTAGAGTCCTGTGAAAAGA	0.333																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.e4-1		aldehyde dehydrogenase 1 family, member L2							63.0	66.0	65.0					12																	105462663		2203	4300	6503	SO:0001630	splice_region_variant	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105462663C>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.429-1G>T	12.37:g.105462663C>A						ALDH1L2_ENST00000424857.2_Splice_Site		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			4	569	-								Q3SY68|Q68D62|Q6AI55|Q8N922	Splice_Site	SNP	ENST00000258494.9	37		CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619394	0.87460	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH1L2	103986793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	.		0.333	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	Intron	14	24	1	0	2.61681e-11	1	2.81437e-11	14	24				
DNAH2	146754	broad.mit.edu	37	17	7691263	7691263	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7691263C>T	ENST00000572933.1	+	43	8149	c.6689C>T	c.(6688-6690)gCt>gTt	p.A2230V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2230V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2230	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTGACTACGCTGACCTGGGC	0.552																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6688-6690)gCt>gTt		dynein, axonemal, heavy chain 2							75.0	71.0	72.0					17																	7691263		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691263C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6689C>T	17.37:g.7691263C>T	ENSP00000458355:p.Ala2230Val					DNAH2_ENST00000389173.2_Missense_Mutation_p.A2230V	p.A2230V			Q9P225	DYH2_HUMAN			43	8149	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2230			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6689C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	6.663	0.490881	0.12702	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15952	2.38	5.07	1.37	0.22104	.	0.733708	0.12653	N	0.450292	T	0.06325	0.0163	N	0.03029	-0.43	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34625	-0.9821	10	0.36615	T	0.2	.	5.4381	0.16492	0.0:0.4759:0.2752:0.2489	.	2230	Q9P225	DYH2_HUMAN	V	2230	ENSP00000373825:A2230V	ENSP00000353818:A2230V	A	+	2	0	DNAH2	7631988	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	0.011000	0.13264	0.518000	0.28383	-0.459000	0.05422	GCT		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		19	20	0	0	0	1	0	19	20				
MOCS1	4337	broad.mit.edu	37	6	39874303	39874303	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:39874303A>G	ENST00000340692.5	-	11	1744	c.1741T>C	c.(1741-1743)Tgc>Cgc	p.C581R	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.C565R|MOCS1_ENST00000425303.2_Missense_Mutation_p.C581R|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.C478R|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	581	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGAGCCCGGCAAGATGCCTGG	0.657																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1693-1695)Tgc>Cgc		molybdenum cofactor synthesis 1							52.0	55.0	54.0					6																	39874303		2203	4298	6501	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874303A>G	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1741T>C	6.37:g.39874303A>G	ENSP00000344794:p.Cys581Arg					MOCS1_ENST00000425303.2_Missense_Mutation_p.C581R|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.C581R|MOCS1_ENST00000373195.3_Missense_Mutation_p.C478R	p.C565R			Q9NZB8	MOCS1_HUMAN			10	1826	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		581			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1693T>C		.	.	.	.	.	.	.	.	.	.	A	19.62	3.861759	0.71949	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.33438	1.41;1.42;1.44;1.43	5.28	5.28	0.74379	Molybdopterin cofactor biosynthesis C (MoaC) domain (3);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	.	.	.	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.71184	0.953;0.972;0.968	T	0.55915	-0.8065	9	0.87932	D	0	-16.197	14.8526	0.70309	1.0:0.0:0.0:0.0	.	565;581;581	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	R	565;478;581;581	ENSP00000309843:C565R;ENSP00000362291:C478R;ENSP00000344794:C581R;ENSP00000416478:C581R	ENSP00000309843:C565R	C	-	1	0	MOCS1	39982281	1.000000	0.71417	0.993000	0.49108	0.786000	0.44442	9.014000	0.93635	1.988000	0.58038	0.379000	0.24179	TGC		0.657	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		21	34	0	0	0	1	0	21	34				
AKT2	208	broad.mit.edu	37	19	40762906	40762906	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40762906G>T	ENST00000392038.2	-	3	400	c.102C>A	c.(100-102)tcC>tcA	p.S34S	AKT2_ENST00000424901.1_Silent_p.S34S|AKT2_ENST00000311278.6_Silent_p.S34S|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	34	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ACCCAATGAAGGAGCCGTCGC	0.552			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(100-102)tcC>tcA		v-akt murine thymoma viral oncogene homolog 2							87.0	79.0	82.0					19																	40762906		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40762906G>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.102C>A	19.37:g.40762906G>T						AKT2_ENST00000424901.1_Silent_p.S34S|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Silent_p.S34S	p.S34S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		3	400	-			34			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.102C>A	CCDS12552.1																																																																																				0.552	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		16	25	1	0	1.02788e-11	1	1.10723e-11	16	25				
ZC3H4	23211	broad.mit.edu	37	19	47570545	47570545	+	Missense_Mutation	SNP	C	C	T	rs555579595		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47570545C>T	ENST00000253048.5	-	15	3017	c.2980G>A	c.(2980-2982)Gca>Aca	p.A994T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	994							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGGCACTGCGTCCTGCTTG	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		11829	0.0		0.0	False		,,,				2504	0.001					ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2980-2982)Gca>Aca		zinc finger CCCH-type containing 4							39.0	47.0	44.0					19																	47570545		2041	4171	6212	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570545C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2980G>A	19.37:g.47570545C>T	ENSP00000253048:p.Ala994Thr					ZC3H4_ENST00000594019.1_5'UTR	p.A994T	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3017	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	994					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2980G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	5.668	0.307803	0.10733	.	.	ENSG00000130749	ENST00000253048	T	0.17213	2.29	5.02	-4.87	0.03123	.	1.182110	0.05859	N	0.622624	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	P	0.48998	0.918	B	0.33454	0.164	T	0.36138	-0.9760	10	0.32370	T	0.25	.	5.0346	0.14428	0.4323:0.2723:0.0:0.2954	.	994	Q9UPT8	ZC3H4_HUMAN	T	994	ENSP00000253048:A994T	ENSP00000253048:A994T	A	-	1	0	ZC3H4	52262385	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.770000	0.04705	-0.523000	0.06409	0.563000	0.77884	GCA		0.716	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			35	33	0	0	0	1	0	35	33				
PKD1L1	168507	broad.mit.edu	37	7	47955158	47955158	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47955158A>G	ENST00000289672.2	-	8	1149	c.1099T>C	c.(1099-1101)Tcc>Ccc	p.S367P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	367					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S367P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGTAGGTGGACATAtccaac	0.333																																						ENST00000289672.2																		BBS9/PKD1L1(2)	1	Substitution - Missense(1)	p.S367P(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1099-1101)Tcc>Ccc		polycystic kidney disease 1 like 1							94.0	90.0	91.0					7																	47955158		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47955158A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1099T>C	7.37:g.47955158A>G	ENSP00000289672:p.Ser367Pro						p.S367P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1149	-			367					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1099T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	0.740	-0.776807	0.02929	.	.	ENSG00000158683	ENST00000289672	T	0.23950	1.88	0.391	0.391	0.16282	.	28.248200	0.00447	U	0.000084	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.20538	-1.0272	9	0.32370	T	0.25	.	.	.	.	.	367	Q8TDX9	PK1L1_HUMAN	P	367	ENSP00000289672:S367P	ENSP00000289672:S367P	S	-	1	0	PKD1L1	47921683	0.004000	0.15560	0.003000	0.11579	0.003000	0.03518	0.349000	0.20055	0.383000	0.24910	0.378000	0.23410	TCC		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	44	0	0	0	1	0	10	44				
ZNF638	27332	broad.mit.edu	37	2	71577014	71577014	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71577014C>T	ENST00000409544.1	+	2	1560	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ZNF638_ENST00000355812.3_Silent_p.S310S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.S310S|ZNF638_ENST00000377802.2_Silent_p.S310S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	310					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCATAAAATCCGTCAACCAAT	0.418																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(928-930)tcC>tcT		zinc finger protein 638							133.0	136.0	135.0					2																	71577014		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577014C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.930C>T	2.37:g.71577014C>T						ZNF638_ENST00000355812.3_Silent_p.S310S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.S310S|ZNF638_ENST00000264447.4_Silent_p.S310S	p.S310S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1560	+			310					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.930C>T	CCDS1917.1																																																																																				0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		27	52	0	0	0	1	0	27	52				
LGR6	59352	broad.mit.edu	37	1	202287631	202287631	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202287631G>A	ENST00000367278.3	+	18	2289	c.2200G>A	c.(2200-2202)Gtg>Atg	p.V734M	LGR6_ENST00000255432.7_Missense_Mutation_p.V682M|LGR6_ENST00000439764.2_Missense_Mutation_p.V595M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	734					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTTCACCGTGGCCCTGGT	0.657																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2200-2202)Gtg>Atg		leucine-rich repeat containing G protein-coupled receptor 6							64.0	54.0	57.0					1																	202287631		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287631G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2200G>A	1.37:g.202287631G>A	ENSP00000356247:p.Val734Met					LGR6_ENST00000439764.2_Missense_Mutation_p.V595M|LGR6_ENST00000255432.7_Missense_Mutation_p.V682M	p.V734M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2289	+			734					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2200G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181566	0.57800	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.39056	1.1;1.1;1.1	4.36	4.36	0.52297	.	0.155671	0.42682	D	0.000666	T	0.63954	0.2555	M	0.72353	2.195	0.37517	D	0.917389	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.996;0.996	T	0.68922	-0.5281	10	0.44086	T	0.13	.	17.488	0.87693	0.0:0.0:1.0:0.0	.	595;682;734	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	734;682;595	ENSP00000356247:V734M;ENSP00000255432:V682M;ENSP00000387869:V595M	ENSP00000255432:V682M	V	+	1	0	LGR6	200554254	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	5.582000	0.67477	2.442000	0.82660	0.485000	0.47835	GTG		0.657	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	18	0	0	0	1	0	10	18				
MLXIPL	51085	broad.mit.edu	37	7	73010560	73010560	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73010560G>A	ENST00000313375.3	-	13	2028	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	MLXIPL_ENST00000354613.1_Missense_Mutation_p.R659W|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R568W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R661W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R659W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R567W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	661	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAAGCGCCGCTTCTGCTCC	0.647																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1981-1983)Cgg>Tgg		MLX interacting protein-like							85.0	84.0	84.0					7																	73010560		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010560G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1981C>T	7.37:g.73010560G>A	ENSP00000320886:p.Arg661Trp					MLXIPL_ENST00000395189.1_Missense_Mutation_p.R568W|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R661W|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R659W|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R567W|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R659W	p.R661W	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			13	2028	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	661					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1981C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294661	0.60086	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	D;D;D;D;D;D	0.99771	-6.53;-6.71;-6.53;-6.71;-6.53;-6.53	5.38	2.46	0.29980	.	0.000000	0.64402	D	0.000001	D	0.99782	0.9909	M	0.92738	3.34	0.40120	D	0.976593	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.98183	1.0458	10	0.87932	D	0	-25.9854	12.6308	0.56657	0.0:0.0:0.5681:0.4319	.	568;661;661;659;659	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	W	659;661;661;659;568;567	ENSP00000412330:R659W;ENSP00000406296:R661W;ENSP00000320886:R661W;ENSP00000346629:R659W;ENSP00000378616:R568W;ENSP00000392636:R567W	ENSP00000320886:R661W	R	-	1	2	MLXIPL	72648496	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	0.830000	0.27462	0.207000	0.20607	0.558000	0.71614	CGG		0.647	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		32	61	0	0	0	1	0	32	61				
PCSK1	5122	broad.mit.edu	37	5	95730639	95730639	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95730639G>A	ENST00000311106.3	-	13	2050	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	PCSK1_ENST00000508626.1_Missense_Mutation_p.R558C|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	605					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGTACACACGAGGCTGCTTC	0.478																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1813-1815)Cgt>Tgt		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						233.0	203.0	213.0					5																	95730639		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95730639G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1813C>T	5.37:g.95730639G>A	ENSP00000308024:p.Arg605Cys					PCSK1_ENST00000508626.1_Missense_Mutation_p.R558C|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	p.R605C	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	13	2050	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	605					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1813C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265855	0.80358	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.69306	-0.24;-0.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.927;0.992	T	0.79860	-0.1625	10	0.66056	D	0.02	-13.761	15.0004	0.71466	0.0:0.0:0.8575:0.1425	.	558;605	E9PHA1;P29120	.;NEC1_HUMAN	C	605;558	ENSP00000308024:R605C;ENSP00000421600:R558C	ENSP00000308024:R605C	R	-	1	0	PCSK1	95756395	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	3.359000	0.52292	2.871000	0.98454	0.655000	0.94253	CGT		0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		40	58	0	0	0	1	0	40	58				
PPIE	10450	broad.mit.edu	37	1	40209539	40209539	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40209539G>A	ENST00000324379.5	+	6	346	c.327G>A	c.(325-327)acG>acA	p.T109T	PPIE_ENST00000470213.1_Silent_p.T109T|PPIE_ENST00000372830.1_Silent_p.T109T|PPIE_ENST00000356511.2_Silent_p.T109T|PPIE_ENST00000480169.1_3'UTR	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	109					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGGGAAGACGCTTGAAGAGA	0.468																																						ENST00000324379.5																			0				kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9						c.(325-327)acG>acA		peptidylprolyl isomerase E (cyclophilin E)							97.0	100.0	99.0					1																	40209539		2203	4300	6503	SO:0001819	synonymous_variant	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40209539G>A	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.327G>A	1.37:g.40209539G>A						PPIE_ENST00000372830.1_Silent_p.T109T|PPIE_ENST00000470213.1_Silent_p.T109T|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Silent_p.T109T	p.T109T	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	346	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	109					B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Silent	SNP	ENST00000324379.5	37	c.327G>A	CCDS443.1																																																																																				0.468	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		9	7	0	0	0	1	0	9	7				
CSPG4	1464	broad.mit.edu	37	15	75980589	75980589	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75980589C>T	ENST00000308508.5	-	3	2909	c.2817G>A	c.(2815-2817)cgG>cgA	p.R939R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	939	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATGGCGGGGCCGCTCCATGA	0.587																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2815-2817)cgG>cgA		chondroitin sulfate proteoglycan 4							78.0	82.0	81.0					15																	75980589		2192	4277	6469	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980589C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2817G>A	15.37:g.75980589C>T							p.R939R	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2909	-			939			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2817G>A	CCDS10284.1																																																																																				0.587	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		9	60	0	0	0	1	0	9	60				
PTPN7	5778	broad.mit.edu	37	1	202124675	202124675	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202124675C>T	ENST00000308986.5	-	5	584	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.A191T|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Missense_Mutation_p.A257T			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	152	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						ATGTAGTTGGCATTGATGTAA	0.547																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(769-771)Gcc>Acc		protein tyrosine phosphatase, non-receptor type 7							91.0	74.0	79.0					1																	202124675		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124675C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.454G>A	1.37:g.202124675C>T	ENSP00000311133:p.Ala152Thr					PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.A191T|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Missense_Mutation_p.A152T|PTPN7_ENST00000543735.1_5'UTR	p.A257T	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1542	-			152			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.769G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.425450|5.425450	0.96131|0.96131	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870|ENST00000477625	T;T;T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.54;0.54;0.54|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.56097|.	D|.	0.000026|.	D|D	0.91965|0.91965	0.7455|0.7455	H|H	0.99712|0.99712	4.72|4.72	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.95812|0.95812	0.8842|0.8842	10|5	0.87932|.	D|.	0|.	-19.7549|-19.7549	18.5631|18.5631	0.91108|0.91108	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	226;100;104;152;191|.	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2|.	.;.;.;PTN7_HUMAN;.|.	T|Y	191;257;152;233;151;151;152|83	ENSP00000356248:A191T;ENSP00000309116:A257T;ENSP00000311133:A152T;ENSP00000418416:A233T;ENSP00000419993:A151T;ENSP00000418837:A151T;ENSP00000420434:A152T|.	ENSP00000311133:A152T|.	A|C	-|-	1|2	0|0	PTPN7|PTPN7	200391298|200391298	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.854000|0.854000	0.48673|0.48673	7.452000|7.452000	0.80683|0.80683	2.379000|2.379000	0.81126|0.81126	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.547	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		13	29	0	0	0	1	0	13	29				
SLC25A35	399512	broad.mit.edu	37	17	8195891	8195891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8195891G>A	ENST00000577745.1	-	2	901	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	SLC25A35_ENST00000580340.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000396278.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000380067.2_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000579192.1_Nonsense_Mutation_p.Q131*			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	131					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						GCCTGTGCCTGCAGGTGTGTC	0.527																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(391-393)Cag>Tag		solute carrier family 25, member 35							191.0	174.0	179.0					17																	8195891		2203	4300	6503	SO:0001587	stop_gained	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8195891G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.391C>T	17.37:g.8195891G>A	ENSP00000464231:p.Gln131*					SLC25A35_ENST00000580340.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000396278.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000577745.1_Nonsense_Mutation_p.Q131*|SLC25A35_ENST00000579192.1_Nonsense_Mutation_p.Q131*	p.Q131*	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			2	435	-			131					Q494X5|Q6RGS3|Q8N7Y5	Nonsense_Mutation	SNP	ENST00000577745.1	37	c.391C>T		.	.	.	.	.	.	.	.	.	.	G	14.93	2.681532	0.47991	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	.	.	.	4.99	4.99	0.66335	.	0.128717	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.9762	13.7109	0.62667	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000369407:Q131X	Q	-	1	0	SLC25A35	8136616	1.000000	0.71417	0.986000	0.45419	0.200000	0.23975	8.423000	0.90264	2.610000	0.88304	0.551000	0.68910	CAG		0.527	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		14	62	0	0	0	1	0	14	62				
KCNH7	90134	broad.mit.edu	37	2	163280016	163280016	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163280016C>T	ENST00000332142.5	-	9	2083	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	KCNH7_ENST00000328032.4_Missense_Mutation_p.V655I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	662					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTGCAGATACATTCCCAAAA	0.403																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1984-1986)Gta>Ata		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						118.0	116.0	117.0					2																	163280016		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163280016C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1984G>A	2.37:g.163280016C>T	ENSP00000331727:p.Val662Ile					KCNH7_ENST00000328032.4_Missense_Mutation_p.V655I	p.V662I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			9	2083	-			662					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1984G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424539	0.96111	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97924	-4.61;-4.61	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.998;0.988	D;D	0.72625	0.978;0.946	D	0.99501	1.0953	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	655;662	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	662;655	ENSP00000331727:V662I;ENSP00000333781:V655I	ENSP00000333781:V655I	V	-	1	0	KCNH7	162988262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GTA		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		24	45	0	0	0	1	0	24	45				
SGPL1	8879	broad.mit.edu	37	10	72636336	72636336	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72636336G>A	ENST00000373202.3	+	14	1684	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	495					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCCCGGAAACGAGTAGCTATA	0.393																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(1483-1485)cGa>cAa		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						102.0	97.0	99.0					10																	72636336		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72636336G>A	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1484G>A	10.37:g.72636336G>A	ENSP00000362298:p.Arg495Gln						p.R495Q	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			14	1684	+			495					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.1484G>A	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097952	0.56183	.	.	ENSG00000166224	ENST00000373202	T	0.42513	0.97	5.6	3.41	0.39046	Pyridoxal phosphate-dependent transferase, major domain (1);	0.116916	0.64402	D	0.000009	T	0.28863	0.0716	N	0.20685	0.6	0.33663	D	0.609945	B	0.12013	0.005	B	0.09377	0.004	T	0.38286	-0.9668	10	0.52906	T	0.07	-3.973	13.4649	0.61247	0.1493:0.0:0.8507:0.0	.	495	O95470	SGPL1_HUMAN	Q	495	ENSP00000362298:R495Q	ENSP00000362298:R495Q	R	+	2	0	SGPL1	72306342	1.000000	0.71417	0.995000	0.50966	0.588000	0.36517	3.890000	0.56220	1.376000	0.46267	0.557000	0.71058	CGA		0.393	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		32	51	0	0	0	1	0	32	51				
SLC27A5	10998	broad.mit.edu	37	19	59012676	59012676	+	Missense_Mutation	SNP	G	G	A	rs371423777		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:59012676G>A	ENST00000263093.2	-	4	1268	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R303W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	387					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACAAGTACCGCAGGAGCTCG	0.522																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1159-1161)Cgg>Tgg		solute carrier family 27 (fatty acid transporter), member 5		G	TRP/ARG	0,4406		0,0,2203	127.0	131.0	129.0		1159	3.9	1.0	19		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC27A5	NM_012254.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	387/691	59012676	1,13005	2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012676G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1159C>T	19.37:g.59012676G>A	ENSP00000263093:p.Arg387Trp					SLC27A5_ENST00000601355.1_Missense_Mutation_p.R303W	p.R387W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1268	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	387					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1159C>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943916	0.73672	0.0	1.16E-4	ENSG00000083807	ENST00000263093	T	0.48201	0.82	4.9	3.86	0.44501	AMP-dependent synthetase/ligase (1);	0.135756	0.49305	D	0.000150	T	0.76983	0.4064	H	0.97732	4.065	0.37857	D	0.92958	D	0.89917	1.0	D	0.97110	1.0	D	0.83643	0.0151	10	0.87932	D	0	-32.5211	9.5172	0.39113	0.0992:0.0:0.9008:0.0	.	387	Q9Y2P5	S27A5_HUMAN	W	387	ENSP00000263093:R387W	ENSP00000263093:R387W	R	-	1	2	SLC27A5	63704488	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.569000	0.53827	1.204000	0.43247	0.563000	0.77884	CGG		0.522	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		39	81	0	0	0	1	0	39	81				
TFRC	7037	broad.mit.edu	37	3	195782158	195782158	+	Silent	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195782158A>C	ENST00000360110.4	-	17	1861	c.1692T>G	c.(1690-1692)ccT>ccG	p.P564P	TFRC_ENST00000465288.1_5'Flank|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.P282P|TFRC_ENST00000392396.3_Silent_p.P564P|TFRC_ENST00000420415.1_Silent_p.P483P	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	564					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|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 plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TACCCAAATAAGGATAATCTG	0.502			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1690-1692)ccT>ccG		transferrin receptor							89.0	82.0	84.0					3																	195782158		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195782158A>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1692T>G	3.37:g.195782158A>C						TFRC_ENST00000392396.3_Silent_p.P564P|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.P282P|TFRC_ENST00000420415.1_Silent_p.P483P	p.P564P	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	17	1861	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		564					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.1692T>G	CCDS3312.1																																																																																				0.502	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			7	42	0	0	0	1	0	7	42				
SLC22A8	9376	broad.mit.edu	37	11	62768217	62768217	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62768217G>T	ENST00000336232.2	-	3	547	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	SLC22A8_ENST00000545207.1_Missense_Mutation_p.L47I|SLC22A8_ENST00000535878.1_Missense_Mutation_p.L15I|SLC22A8_ENST00000311438.8_Missense_Mutation_p.L138I|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L138I|SLC22A8_ENST00000542795.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	138					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCAAGCACGAGCCCTCCAATC	0.557																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(412-414)Ctc>Atc		solute carrier family 22 (organic anion transporter), member 8							151.0	108.0	122.0					11																	62768217		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62768217G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.412C>A	11.37:g.62768217G>T	ENSP00000337335:p.Leu138Ile					SLC22A8_ENST00000545207.1_Missense_Mutation_p.L47I|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L138I|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.L138I|SLC22A8_ENST00000535878.1_Missense_Mutation_p.L15I	p.L138I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			3	547	-			138					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.412C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073047	0.08485	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.45	2.22	0.28083	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.992306	0.08186	N	0.984736	T	0.35480	0.0933	N	0.11845	0.185	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.14868	-1.0457	10	0.06365	T	0.9	.	9.9999	0.41922	0.0:0.0:0.652:0.348	.	138;138	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	I	138;124;47;15;138;138	ENSP00000337335:L138I;ENSP00000441658:L47I;ENSP00000443368:L15I;ENSP00000311463:L138I;ENSP00000398548:L138I	ENSP00000311463:L138I	L	-	1	0	SLC22A8	62524793	0.001000	0.12720	0.174000	0.22961	0.852000	0.48524	-0.000000	0.12993	0.406000	0.25560	0.313000	0.20887	CTC		0.557	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		38	49	1	0	1.7489e-18	1	1.93039e-18	38	49				
SORL1	6653	broad.mit.edu	37	11	121475005	121475005	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121475005G>A	ENST00000260197.7	+	33	4752	c.4623G>A	c.(4621-4623)tcG>tcA	p.S1541S	SORL1_ENST00000534286.1_Silent_p.S451S|SORL1_ENST00000525532.1_Silent_p.S485S|SORL1_ENST00000527934.1_Silent_p.S156S|SORL1_ENST00000532694.1_Silent_p.S387S	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1541	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGACTGCTCGGACGAGAGCG	0.667																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4621-4623)tcG>tcA		sortilin-related receptor, L(DLR class) A repeats containing							78.0	71.0	73.0					11																	121475005		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121475005G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4623G>A	11.37:g.121475005G>A						SORL1_ENST00000525532.1_Silent_p.S485S|SORL1_ENST00000527934.1_Silent_p.S156S|SORL1_ENST00000532694.1_Silent_p.S387S|SORL1_ENST00000534286.1_Silent_p.S451S	p.S1541S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	33	4752	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1541			LDL-receptor class A 11.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.4623G>A	CCDS8436.1																																																																																				0.667	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		10	23	0	0	0	1	0	10	23				
TNFSF8	944	broad.mit.edu	37	9	117692505	117692505	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117692505C>T	ENST00000223795.2	-	1	192	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	27					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TGGCTGGCCACGGAGCCCGCC	0.577																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(79-81)Gtg>Atg		tumor necrosis factor (ligand) superfamily, member 8							61.0	63.0	62.0					9																	117692505		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117692505C>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.79G>A	9.37:g.117692505C>T	ENSP00000223795:p.Val27Met						p.V27M	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			1	192	-			27					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.79G>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945535	0.53079	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.46	5.46	0.80206	.	0.116516	0.37955	N	0.001868	T	0.51584	0.1683	L	0.32530	0.975	0.23215	N	0.998102	D	0.89917	1.0	P	0.61275	0.886	T	0.48725	-0.9010	9	0.72032	D	0.01	-12.2694	16.4589	0.84030	0.0:1.0:0.0:0.0	.	27	P32971	TNFL8_HUMAN	M	27	.	ENSP00000223795:V27M	V	-	1	0	TNFSF8	116732326	0.042000	0.20092	0.056000	0.19401	0.354000	0.29330	2.128000	0.42045	2.555000	0.86185	0.544000	0.68410	GTG		0.577	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			28	27	0	0	0	1	0	28	27				
ST14	6768	broad.mit.edu	37	11	130060404	130060404	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130060404G>A	ENST00000278742.5	+	7	1108	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	230	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTTCACCACGCCCGGCTTCC	0.692																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(688-690)acG>acA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						28.0	30.0	29.0					11																	130060404		2201	4295	6496	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060404G>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.690G>A	11.37:g.130060404G>A							p.T230T	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1108	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	230			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.690G>A	CCDS8487.1																																																																																				0.692	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	22	0	0	0	1	0	10	22				
PARP4	143	broad.mit.edu	37	13	25051910	25051910	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25051910T>A	ENST00000381989.3	-	14	1823	c.1718A>T	c.(1717-1719)gAc>gTc	p.D573V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	573	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGATGAAAGTCCTTTATCTG	0.313																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1717-1719)gAc>gTc		poly (ADP-ribose) polymerase family, member 4							49.0	54.0	52.0					13																	25051910		2202	4290	6492	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25051910T>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1718A>T	13.37:g.25051910T>A	ENSP00000371419:p.Asp573Val						p.D573V	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	14	1823	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	573			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1718A>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783890	0.49891	.	.	ENSG00000102699	ENST00000381989	T	0.01963	4.53	3.98	2.78	0.32641	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.745945	0.12547	N	0.459364	T	0.05364	0.0142	L	0.57536	1.79	0.45852	D	0.998715	P	0.52316	0.952	P	0.52267	0.694	T	0.44143	-0.9347	10	0.59425	D	0.04	-6.2286	5.9049	0.18992	0.0:0.1214:0.0:0.8786	.	573	Q9UKK3	PARP4_HUMAN	V	573	ENSP00000371419:D573V	ENSP00000371419:D573V	D	-	2	0	PARP4	23949910	0.771000	0.28555	0.963000	0.40424	0.941000	0.58515	0.662000	0.25038	0.591000	0.29711	0.524000	0.50904	GAC		0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		47	60	0	0	0	1	0	47	60				
HPS4	89781	broad.mit.edu	37	22	26860178	26860178	+	Missense_Mutation	SNP	C	C	T	rs139039617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26860178C>T	ENST00000398145.2	-	11	2034	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	HPS4_ENST00000398141.1_Missense_Mutation_p.R486H|HPS4_ENST00000402105.3_Missense_Mutation_p.R468H|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.R473H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	473					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGATCTAAGCGAGGCAATAA	0.592									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1417-1419)cGc>cAc		Hermansky-Pudlak syndrome 4		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	133.0	130.0	131.0		1418,1403	-1.5	0.0	22	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HPS4	NM_022081.4,NM_152841.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	473/709,468/704	26860178	1,13005	2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860178C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1418G>A	22.37:g.26860178C>T	ENSP00000381213:p.Arg473His					HPS4_ENST00000402105.3_Missense_Mutation_p.R468H|HPS4_ENST00000336873.5_Missense_Mutation_p.R473H|HPS4_ENST00000398141.1_Missense_Mutation_p.R486H	p.R473H	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2034	-			473					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1418G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170889	0.21621	0.0	1.16E-4	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.32515	1.46;1.45;1.46;1.46	4.23	-1.51	0.08664	.	1.692980	0.02694	N	0.110997	T	0.18215	0.0437	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.10296	0.002;0.003;0.003;0.002;0.003;0.001	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.002	T	0.11494	-1.0585	9	.	.	.	0.4393	2.5995	0.04863	0.4054:0.283:0.0:0.3116	.	473;473;473;473;486;468	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	H	473;486;468;473	ENSP00000381213:R473H;ENSP00000381210:R486H;ENSP00000384185:R468H;ENSP00000338457:R473H	.	R	-	2	0	HPS4	25190178	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.973000	0.01500	-0.018000	0.14079	-1.251000	0.01509	CGC		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		47	79	0	0	0	1	0	47	79				
GSTM2	2946	broad.mit.edu	37	1	110212156	110212156	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110212156G>A	ENST00000241337.4	+	5	373	c.323G>A	c.(322-324)cGt>cAt	p.R108H	GSTM2_ENST00000369831.2_Missense_Mutation_p.R108H|GSTM2_ENST00000369829.2_Missense_Mutation_p.R108H|GSTM2_ENST00000460717.3_Missense_Mutation_p.R108H|GSTM2_ENST00000369827.3_Missense_Mutation_p.R106H|GSTM2_ENST00000442650.1_Missense_Mutation_p.R108H|GSTM2_ENST00000414179.2_Missense_Mutation_p.R4H|GSTM2_ENST00000464206.1_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	108	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGGACAGCCGTATGCAGCTG	0.537																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(322-324)cGt>cAt		glutathione S-transferase mu 2 (muscle)							87.0	87.0	87.0					1																	110212156		2203	4300	6503	SO:0001583	missense	2946							g.chr1:110212156G>A	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.323G>A	1.37:g.110212156G>A	ENSP00000241337:p.Arg108His					GSTM2_ENST00000241337.4_Missense_Mutation_p.R108H|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000442650.1_Missense_Mutation_p.R108H|GSTM2_ENST00000414179.2_Missense_Mutation_p.R4H|GSTM2_ENST00000460717.3_Missense_Mutation_p.R108H|GSTM2_ENST00000369829.2_Missense_Mutation_p.R108H|GSTM2_ENST00000369827.3_Missense_Mutation_p.R106H	p.R108H						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	417	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.323G>A	CCDS808.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.455410	0.26161	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	3.02	-0.291	0.12843	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.085770	0.42420	U	0.000702	T	0.02848	0.0085	M	0.70787	2.145	0.09310	N	1	B;P;P	0.48016	0.179;0.904;0.754	B;P;B	0.46685	0.061;0.524;0.154	T	0.33879	-0.9851	10	0.49607	T	0.09	.	6.0218	0.19632	0.1129:0.3674:0.5198:0.0	.	108;108;108	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	H	108;106;108;108;108;4;108;108	ENSP00000416883:R108H;ENSP00000358842:R106H;ENSP00000358846:R108H;ENSP00000435910:R108H;ENSP00000435157:R108H;ENSP00000404662:R4H;ENSP00000358844:R108H;ENSP00000241337:R108H	ENSP00000241337:R108H	R	+	2	0	GSTM2	110013679	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.797000	0.26999	-0.176000	0.10707	-1.531000	0.00922	CGT		0.537	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		6	17	0	0	0	1	0	6	17				
PLCXD2	257068	broad.mit.edu	37	3	111564770	111564770	+	3'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111564770G>A	ENST00000477665.1	+	0	1378				PHLDB2_ENST00000393923.3_Missense_Mutation_p.V19M|PLCXD2_ENST00000393934.3_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGTTGGTGATGTGCAACATTT	0.428																																						ENST00000393923.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(55-57)Gtg>Atg		pleckstrin homology-like domain, family B, member 2							321.0	293.0	301.0					3																	111564770		692	1591	2283	SO:0001624	3_prime_UTR_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111564770G>A	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*136G>A	3.37:g.111564770G>A						PLCXD2_ENST00000477665.1_3'UTR|PLCXD2_ENST00000393934.3_3'UTR	p.V19M	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN			2	310	+			0					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.55G>A	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136994	0.37728	.	.	ENSG00000144824	ENST00000359729;ENST00000393923	T	0.34667	1.35	4.25	0.311	0.15831	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.25206	0.12	B	0.24269	0.052	T	0.20306	-1.0279	9	0.45353	T	0.12	.	4.7704	0.13153	0.2035:0.364:0.4324:0.0	.	19	Q86SQ0-3	.	M	19	ENSP00000377500:V19M	ENSP00000352764:V19M	V	+	1	0	PHLDB2	113047460	0.000000	0.05858	0.000000	0.03702	0.850000	0.48378	-0.738000	0.04871	0.040000	0.15660	0.561000	0.74099	GTG		0.428	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		7	64	0	0	0	1	0	7	64				
DUOX1	53905	broad.mit.edu	37	15	45455823	45455823	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45455823G>A	ENST00000321429.4	+	33	4749	c.4342G>A	c.(4342-4344)Gtg>Atg	p.V1448M	DUOX1_ENST00000561166.1_Missense_Mutation_p.V1094M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.V1448M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1448					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGGACCTGGTGTCTGTGCA	0.582											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4342-4344)Gtg>Atg		dual oxidase 1							153.0	135.0	141.0					15																	45455823		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455823G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4342G>A	15.37:g.45455823G>A	ENSP00000317997:p.Val1448Met		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOX1_ENST00000389037.3_Missense_Mutation_p.V1448M|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.V1094M	p.V1448M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4749	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1448					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4342G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243256	0.79912	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.95656	-3.77;-3.77	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.121499	0.53938	D	0.000042	D	0.97114	0.9057	M	0.71206	2.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.97631	1.0142	10	0.87932	D	0	-23.5556	14.4383	0.67298	0.0:0.0:1.0:0.0	.	1448	Q9NRD9	DUOX1_HUMAN	M	1448	ENSP00000317997:V1448M;ENSP00000373689:V1448M	ENSP00000317997:V1448M	V	+	1	0	DUOX1	43243115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	2.243000	0.73865	0.491000	0.48974	GTG		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		31	37	0	0	0	1	0	31	37				
CXCR2	3579	broad.mit.edu	37	2	218999889	218999889	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218999889T>G	ENST00000318507.2	+	3	792	c.365T>G	c.(364-366)gTc>gGc	p.V122G		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	122					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGCAAGGTGGTCTCACTCCTG	0.552																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(364-366)gTc>gGc		chemokine (C-X-C motif) receptor 2							127.0	113.0	118.0					2																	218999889		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999889T>G	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.365T>G	2.37:g.218999889T>G	ENSP00000319635:p.Val122Gly						p.V122G	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	792	+			122					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.365T>G	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283762	0.23392	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.91	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.315964	0.30762	N	0.008922	T	0.68320	0.2988	H	0.96805	3.885	0.23724	N	0.997011	D	0.53462	0.96	P	0.58130	0.833	T	0.65553	-0.6140	10	0.87932	D	0	.	7.814	0.29247	0.0:0.1746:0.0:0.8254	.	122	P25025	CXCR2_HUMAN	G	122	ENSP00000413686:V122G;ENSP00000392348:V122G;ENSP00000319635:V122G;ENSP00000415148:V122G;ENSP00000392698:V122G	ENSP00000319635:V122G	V	+	2	0	CXCR2	218708134	0.997000	0.39634	0.244000	0.24202	0.148000	0.21650	3.395000	0.52558	0.845000	0.35118	0.374000	0.22700	GTC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		18	30	0	0	0	1	0	18	30				
WDR31	114987	broad.mit.edu	37	9	116082637	116082637	+	Splice_Site	SNP	C	C	T	rs148709910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116082637C>T	ENST00000374193.4	-	9	1026	c.780G>A	c.(778-780)acG>acA	p.T260T	WDR31_ENST00000374195.3_Splice_Site_p.T135T|WDR31_ENST00000341761.4_Splice_Site_p.T259T|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20911	0.0		0.0	False		,,,				2504	0.0					ENST00000374193.4																			1	Substitution - coding silent(1)	p.T260T(1)	lung(1)	NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.e9+1		WD repeat domain 31		C	,	3,4403	8.1+/-20.4	0,3,2200	112.0	99.0	104.0		780,777	2.0	1.0	9	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	WDR31	NM_001012361.2,NM_145241.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	260/368,259/367	116082637	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	114987							g.chr9:116082637C>T	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.780+1G>A	9.37:g.116082637C>T						WDR31_ENST00000374195.3_Splice_Site_p.T135_splice|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Splice_Site_p.T259_splice	p.T260_splice	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			9	1026	-			260					Q5W0T9|Q96EG8	Splice_Site	SNP	ENST00000374193.4	37	c.780_splice	CCDS35110.1																																																																																				0.517	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241	Silent	18	31	0	0	0	1	0	18	31				
APOO	79135	broad.mit.edu	37	X	23876770	23876770	+	Missense_Mutation	SNP	C	C	T	rs373029808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:23876770C>T	ENST00000379226.4	-	6	700	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	APOO_ENST00000379220.3_Missense_Mutation_p.V138M	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	157					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TGGGCAAACACGATGGCTTGT	0.378																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(469-471)Gtg>Atg		apolipoprotein O							156.0	132.0	140.0					X																	23876770		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23876770C>T	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.469G>A	X.37:g.23876770C>T	ENSP00000368528:p.Val157Met					APOO_ENST00000379220.3_Missense_Mutation_p.V138M	p.V157M	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			6	700	-			157					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.469G>A	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587907	0.46110	.	.	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.17854	2.25;2.25;2.25	5.53	-9.58	0.00559	.	1.551810	0.04181	N	0.326499	T	0.09730	0.0239	N	0.16903	0.455	0.09310	N	1	P	0.48834	0.916	P	0.44647	0.456	T	0.31447	-0.9943	10	0.41790	T	0.15	-7.3529	5.8982	0.18951	0.1772:0.1168:0.0871:0.6189	.	157	Q9BUR5	APOO_HUMAN	M	157;137;138	ENSP00000368528:V157M;ENSP00000402557:V137M;ENSP00000368522:V138M	ENSP00000368522:V138M	V	-	1	0	APOO	23786691	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	-0.922000	0.04004	-2.292000	0.00665	-1.228000	0.01579	GTG		0.378	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		23	2	0	0	0	1	0	23	2				
FRYL	285527	broad.mit.edu	37	4	48583507	48583507	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48583507G>A	ENST00000503238.1	-	18	2101	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	FRYL_ENST00000537810.1_Missense_Mutation_p.A701V|FRYL_ENST00000358350.4_Missense_Mutation_p.A701V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A701V|FRYL_ENST00000506685.1_Missense_Mutation_p.A407V			O94915	FRYL_HUMAN	FRY-like	701					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCCTAGTGGCAGGTCGACT	0.453																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2101-2103)gCc>gTc		FRY-like							62.0	59.0	60.0					4																	48583507		1890	4118	6008	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48583507G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2102C>T	4.37:g.48583507G>A	ENSP00000426064:p.Ala701Val					FRYL_ENST00000506685.1_Missense_Mutation_p.A407V|FRYL_ENST00000507711.1_Missense_Mutation_p.A701V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.A701V|FRYL_ENST00000358350.4_Missense_Mutation_p.A701V	p.A701V			O94915	FRYL_HUMAN			21	2706	-			701					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2102C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972857	0.53614	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.44685	0.1305	L	0.46614	1.455	0.80722	D	1	P;B	0.34522	0.455;0.136	B;B	0.31751	0.135;0.046	T	0.21759	-1.0236	10	0.27082	T	0.32	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	701;701	F2Z2S2;O94915	.;FRYL_HUMAN	V	701;701;701;701;407	ENSP00000426064:A701V;ENSP00000351113:A701V;ENSP00000441114:A701V;ENSP00000421584:A701V;ENSP00000425592:A407V	ENSP00000351113:A701V	A	-	2	0	FRYL	48278264	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.190000	0.72057	2.941000	0.99782	0.655000	0.94253	GCC		0.453	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			25	37	0	0	0	1	0	25	37				
EPN2	22905	broad.mit.edu	37	17	19186472	19186472	+	Missense_Mutation	SNP	G	G	A	rs138967323	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19186472G>A	ENST00000314728.5	+	3	524	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.V14M|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.V14M|EPN2_ENST00000571254.1_Missense_Mutation_p.V14M|EPN2_ENST00000395620.2_Missense_Mutation_p.V14M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	14	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAAAAACATCGTGAACAATTA	0.463																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(40-42)Gtg>Atg		epsin 2		G	,MET/VAL,MET/VAL	0,4406		0,0,2203	65.0	70.0	69.0		,40,40	5.8	1.0	17	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	EPN2	NM_001102664.1,NM_014964.4,NM_148921.3	,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging,probably-damaging	,14/642,14/585	19186472	2,13004	2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19186472G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.40G>A	17.37:g.19186472G>A	ENSP00000320543:p.Val14Met					EPN2_ENST00000395620.2_Missense_Mutation_p.V14M|EPN2_ENST00000571254.1_Missense_Mutation_p.V14M|EPN2_ENST00000395626.1_Missense_Mutation_p.V14M|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.V14M|EPN2_ENST00000575595.1_Intron	p.V14M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			3	524	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		14			ENTH.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.40G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022079	0.93462	0.0	2.33E-4	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.77	5.77	0.91146	ENTH/VHS (1);Epsin-like, N-terminal (1);	0.051341	0.85682	D	0.000000	T	0.72070	0.3415	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.962;0.999;0.999;0.982	D;D;P;D;D;P	0.87578	0.997;0.998;0.89;0.995;0.997;0.882	T	0.74185	-0.3747	10	0.87932	D	0	-24.8372	19.9873	0.97353	0.0:0.0:1.0:0.0	.	14;14;14;14;14;14	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	M	14	ENSP00000261495:V14M;ENSP00000320543:V14M;ENSP00000378990:V14M;ENSP00000378982:V14M;ENSP00000378988:V14M	ENSP00000320543:V14M	V	+	1	0	EPN2	19127065	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.732000	0.93576	0.655000	0.94253	GTG		0.463	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		16	19	0	0	0	1	0	16	19				
GPBAR1	151306	broad.mit.edu	37	2	219127556	219127556	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219127556C>T	ENST00000522678.1	+	2	977	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	GPBAR1_ENST00000519574.1_Silent_p.L37L|GPBAR1_ENST00000521462.1_Silent_p.L37L|GPBAR1_ENST00000479077.1_Silent_p.L37L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	37					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTAGCCCTGGGCATCGC	0.677																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(109-111)Ctg>Ttg		G protein-coupled bile acid receptor 1							24.0	29.0	27.0					2																	219127556		2056	4194	6250	SO:0001819	synonymous_variant	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127556C>T	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.109C>T	2.37:g.219127556C>T						GPBAR1_ENST00000479077.1_Silent_p.L37L|GPBAR1_ENST00000519574.1_Silent_p.L37L|GPBAR1_ENST00000521462.1_Silent_p.L37L	p.L37L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	977	+		Renal(207;0.0474)	37					B3KV35	Silent	SNP	ENST00000522678.1	37	c.109C>T	CCDS46515.1																																																																																				0.677	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		7	14	0	0	0	1	0	7	14				
SVIL	6840	broad.mit.edu	37	10	29819560	29819560	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:29819560G>A	ENST00000355867.4	-	11	2834	c.2082C>T	c.(2080-2082)gtC>gtT	p.V694V	SVIL_ENST00000375398.2_Silent_p.V694V|SVIL_ENST00000375400.3_Silent_p.V300V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	694					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTGGCGGCGACGCTCAGCT	0.473																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2080-2082)gtC>gtT		supervillin							186.0	170.0	175.0					10																	29819560		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29819560G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2082C>T	10.37:g.29819560G>A						SVIL_ENST00000375400.3_Silent_p.V300V|SVIL_ENST00000355867.4_Silent_p.V694V	p.V694V			O95425	SVIL_HUMAN			13	2531	-		Breast(68;0.103)	694					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2082C>T	CCDS7164.1																																																																																				0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			8	86	0	0	0	1	0	8	86				
ANK1	286	broad.mit.edu	37	8	41566427	41566427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41566427G>A	ENST00000347528.4	-	17	1950	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q623*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q623*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q656*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q623*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000396942.1_Nonsense_Mutation_p.Q623*	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	623	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)			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)			CCCCCATACTGCAGCAGACTA	0.622																																						ENST00000396942.1																			0				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						c.(1867-1869)Cag>Tag		ankyrin 1, erythrocytic							93.0	82.0	86.0					8																	41566427		2203	4300	6503	SO:0001587	stop_gained	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.chr8:41566427G>A	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.1867C>T	8.37:g.41566427G>A	ENSP00000339620:p.Gln623*					ANK1_ENST00000347528.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q623*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q656*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.Q623*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.Q623*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.Q623*	p.Q623*			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)		17	1950	-	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)	623			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Nonsense_Mutation	SNP	ENST00000347528.4	37	c.1867C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	40	8.386650	0.98789	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.4035	0.94640	0.0:0.0:1.0:0.0	.	.	.	.	X	623;623;623;623;623;623;656;623	.	ENSP00000265709:Q656X	Q	-	1	0	ANK1	41685584	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.633000	0.67825	2.586000	0.87340	0.561000	0.74099	CAG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	74	0	0	0	1	0	4	74				
GMPPB	29925	broad.mit.edu	37	3	49759462	49759462	+	Missense_Mutation	SNP	C	C	T	rs144040971	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49759462C>T	ENST00000480687.1	-	9	1003	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Missense_Mutation_p.R296Q|GMPPB_ENST00000308375.6_Missense_Mutation_p.R296Q|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	296					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGAACGGATCCGGGCATCCCG	0.662																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(886-888)cGg>cAg		GDP-mannose pyrophosphorylase B		C	GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	86.0	70.0	75.0		887,887	1.4	0.9	3	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	GMPPB	NM_013334.2,NM_021971.1	43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign	296/388,296/361	49759462	5,13001	2203	4300	6503	SO:0001583	missense	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759462C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.887G>A	3.37:g.49759462C>T	ENSP00000418565:p.Arg296Gln					AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Missense_Mutation_p.R296Q|GMPPB_ENST00000308375.6_Missense_Mutation_p.R296Q	p.R296Q			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1003	-			296					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.887G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201534	0.09652	0.001135	0.0	ENSG00000173540	ENST00000480687;ENST00000308375;ENST00000308388	D;D;D	0.94457	-3.43;-3.43;-3.43	4.98	1.4	0.22301	.	0.174495	0.48286	D	0.000195	D	0.88202	0.6373	L	0.36672	1.1	0.36476	D	0.867572	B;B	0.18166	0.026;0.025	B;B	0.12156	0.006;0.007	T	0.78768	-0.2075	10	0.18710	T	0.47	-10.3052	8.037	0.30499	0.0:0.4938:0.0:0.5062	.	296;296	Q9Y5P6-2;Q9Y5P6	.;GMPPB_HUMAN	Q	296	ENSP00000418565:R296Q;ENSP00000309092:R296Q;ENSP00000311130:R296Q	ENSP00000309092:R296Q	R	-	2	0	GMPPB	49734466	1.000000	0.71417	0.863000	0.33907	0.204000	0.24138	1.474000	0.35398	0.087000	0.17167	-0.367000	0.07326	CGG		0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		8	15	0	0	0	1	0	8	15				
NBN	4683	broad.mit.edu	37	8	90970998	90970998	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:90970998G>A	ENST00000265433.3	-	9	1233	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	NBN_ENST00000409330.1_Missense_Mutation_p.T278I	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	360	Interaction with MTOR, MAPKAP1 and RICTOR.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTATGTTGTAGTGTTCACTGG	0.388								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1078-1080)aCt>aTt	Homologous recombination	nibrin							239.0	210.0	220.0					8																	90970998		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90970998G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1079C>T	8.37:g.90970998G>A	ENSP00000265433:p.Thr360Ile					NBN_ENST00000409330.1_Missense_Mutation_p.T278I	p.T360I	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		9	1233	-			360					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1079C>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.100398	0.00360	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.54675	2.02;0.56	5.57	2.32	0.28847	.	0.654480	0.16380	N	0.216933	T	0.22589	0.0545	N	0.10874	0.06	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.05833	T	0.94	-0.067	2.512	0.04659	0.2766:0.0:0.4907:0.2327	.	360;360	A6H8Y5;O60934	.;NBN_HUMAN	I	360;278;360	ENSP00000265433:T360I;ENSP00000386924:T278I	ENSP00000265433:T360I	T	-	2	0	NBN	91040174	0.004000	0.15560	0.008000	0.14137	0.096000	0.18686	0.327000	0.19663	0.660000	0.30964	0.655000	0.94253	ACT		0.388	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		57	84	0	0	0	1	0	57	84				
PREX1	57580	broad.mit.edu	37	20	47270020	47270020	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47270020G>A	ENST00000371941.3	-	20	2247	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	PREX1_ENST00000396220.1_Missense_Mutation_p.A742V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	742					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAGCCCTGCAGCCATGGCCTC	0.602																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2224-2226)gCt>gTt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							117.0	106.0	109.0					20																	47270020		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47270020G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2225C>T	20.37:g.47270020G>A	ENSP00000361009:p.Ala742Val					PREX1_ENST00000371941.3_Missense_Mutation_p.A742V	p.A742V			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2247	-			742					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2225C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237265	0.22711	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.17370	2.28;2.28	4.88	4.88	0.63580	PDZ/DHR/GLGF (2);	0.000000	0.53938	U	0.000049	T	0.31670	0.0804	L	0.39397	1.21	0.53688	D	0.999979	B;D	0.65815	0.038;0.995	B;D	0.64687	0.024;0.928	T	0.01834	-1.1264	10	0.48119	T	0.1	.	16.2413	0.82409	0.0:0.0:1.0:0.0	.	742;39	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	742	ENSP00000361009:A742V;ENSP00000379522:A742V	ENSP00000361009:A742V	A	-	2	0	PREX1	46703427	0.997000	0.39634	0.782000	0.31804	0.065000	0.16274	3.406000	0.52637	2.269000	0.75478	0.462000	0.41574	GCT		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		33	51	0	0	0	1	0	33	51				
STON2	85439	broad.mit.edu	37	14	81744924	81744924	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81744924A>G	ENST00000267540.2	-	4	931	c.731T>C	c.(730-732)tTa>tCa	p.L244S	STON2_ENST00000555447.1_Missense_Mutation_p.L244S|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	244					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GACTGGTGGTAAAGGGCAGCT	0.512																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(730-732)tTa>tCa		stonin 2							99.0	93.0	95.0					14																	81744924		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744924A>G	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.731T>C	14.37:g.81744924A>G	ENSP00000267540:p.Leu244Ser					STON2_ENST00000267540.2_Missense_Mutation_p.L244S|STON2_ENST00000556280.1_5'UTR	p.L244S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	1143	-			244					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.731T>C	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.532006	0.00951	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.85088	-1.94;-1.94	5.97	2.43	0.29744	Stonin-2, N-terminal (1);	0.383792	0.21265	N	0.077410	T	0.69993	0.3173	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.50389	-0.8834	10	0.06757	T	0.87	-2.356	7.627	0.28218	0.6462:0.0:0.3538:0.0	.	244;244	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	244;256;244	ENSP00000450857:L244S;ENSP00000267540:L244S	ENSP00000267540:L244S	L	-	2	0	STON2	80814677	0.999000	0.42202	0.372000	0.25991	0.753000	0.42808	1.739000	0.38217	0.520000	0.28426	0.533000	0.62120	TTA		0.512	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		18	36	0	0	0	1	0	18	36				
LOC442028	442028	broad.mit.edu	37	2	95552771	95552771	+	RNA	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:95552771T>C	ENST00000568768.1	-	0	476																											AATTCCTCCTTTGTCATAAAG	0.383																																						ENST00000568768.1																			0																																																			0							g.chr2:95552771T>C																													2.37:g.95552771T>C														0	476	-									RNA	SNP	ENST00000568768.1	37																																																																																						0.383	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			7	10	0	0	0	1	0	7	10				
CELF1	10658	broad.mit.edu	37	11	47505049	47505049	+	Missense_Mutation	SNP	C	C	T	rs187138759	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47505049C>T	ENST00000358597.3	-	5	480	c.481G>A	c.(481-483)Gca>Aca	p.A161T	CELF1_ENST00000361904.3_Missense_Mutation_p.A161T|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000310513.5_Missense_Mutation_p.A161T|CELF1_ENST00000395292.2_Missense_Mutation_p.A161T|CELF1_ENST00000395290.2_Missense_Mutation_p.A160T|CELF1_ENST00000532048.1_Missense_Mutation_p.A187T|CELF1_ENST00000531165.1_Missense_Mutation_p.A188T			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCCGTCTGTGCCATGGCTCTT	0.458																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(478-480)Gca>Aca		CUGBP, Elav-like family member 1							299.0	242.0	261.0					11																	47505049		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47505049C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.481G>A	11.37:g.47505049C>T	ENSP00000351409:p.Ala161Thr					CELF1_ENST00000361904.3_Missense_Mutation_p.A161T|CELF1_ENST00000310513.5_Missense_Mutation_p.A161T|CELF1_ENST00000532048.1_Missense_Mutation_p.A187T|CELF1_ENST00000531165.1_Missense_Mutation_p.A188T|CELF1_ENST00000358597.3_Missense_Mutation_p.A161T|CELF1_ENST00000395292.2_Missense_Mutation_p.A161T	p.A160T	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			5	487	-			161			RRM 2.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.478G>A	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.215377	0.79352	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.93	4.01	0.46588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.87038	2.855	0.80722	D	1	P;P;B;B;P;B	0.51449	0.759;0.945;0.265;0.265;0.945;0.311	B;P;B;B;P;B	0.49387	0.277;0.609;0.045;0.045;0.609;0.075	T	0.62144	-0.6916	10	0.87932	D	0	-6.8738	14.6449	0.68754	0.1465:0.8535:0.0:0.0	.	160;188;187;161;161;161	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	T	160;161;161;161;161;188;187	ENSP00000378705:A160T;ENSP00000351409:A161T;ENSP00000378706:A161T;ENSP00000308386:A161T;ENSP00000354639:A161T;ENSP00000436864:A188T;ENSP00000435926:A187T	ENSP00000308386:A161T	A	-	1	0	CELF1	47461625	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.741000	0.84997	1.070000	0.40811	0.552000	0.68991	GCA		0.458	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		5	125	0	0	0	1	0	5	125				
ANKLE2	23141	broad.mit.edu	37	12	133319805	133319805	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133319805C>T	ENST00000357997.5	-	6	1377	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	ANKLE2_ENST00000337516.5_Missense_Mutation_p.V430M|ANKLE2_ENST00000539605.1_Missense_Mutation_p.V368M	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	430					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GACGAAAGCACGTTGACTACA	0.363																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1102-1104)Gtg>Atg		ankyrin repeat and LEM domain containing 2							133.0	119.0	123.0					12																	133319805		1894	4110	6004	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133319805C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1288G>A	12.37:g.133319805C>T	ENSP00000350686:p.Val430Met					ANKLE2_ENST00000337516.5_Missense_Mutation_p.V430M|ANKLE2_ENST00000357997.5_Missense_Mutation_p.V430M	p.V368M			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	5	7786	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	430					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1102G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	13.86	2.362025	0.41902	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.64991	0.95;0.95;-0.13;-0.13	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.191690	0.44902	D	0.000418	T	0.71617	0.3361	L	0.46670	1.46	0.50813	D	0.999897	D;D	0.89917	0.998;1.0	P;D	0.81914	0.895;0.995	T	0.73408	-0.3992	10	0.59425	D	0.04	-16.4875	12.2392	0.54532	0.0:0.9169:0.0:0.0831	.	430;430	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	M	368;430;430;200	ENSP00000446268:V368M;ENSP00000350686:V430M;ENSP00000337651:V430M;ENSP00000438515:V200M	ENSP00000337651:V430M	V	-	1	0	ANKLE2	131829878	0.998000	0.40836	0.750000	0.31169	0.040000	0.13550	3.721000	0.54941	2.161000	0.67846	0.639000	0.83563	GTG		0.363	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			12	17	0	0	0	1	0	12	17				
ZNF180	7733	broad.mit.edu	37	19	44980970	44980970	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44980970C>T	ENST00000221327.4	-	5	2009	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.P551P|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Silent_p.P549P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TACATTCATACGGTTTTTCCC	0.403																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1726-1728)ccG>ccA		zinc finger protein 180							104.0	104.0	104.0					19																	44980970		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44980970C>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1728G>A	19.37:g.44980970C>T						ZNF180_ENST00000391956.4_Silent_p.P551P|ZNF180_ENST00000592529.1_Silent_p.P549P	p.P576P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	2009	-		Prostate(69;0.0435)	576					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.1728G>A	CCDS12639.1																																																																																				0.403	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		40	55	0	0	0	1	0	40	55				
KCTD11	147040	broad.mit.edu	37	17	7256426	7256426	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7256426G>A	ENST00000333751.3	+	1	1219	c.165G>A	c.(163-165)gcG>gcA	p.A55A	TMEM95_ENST00000389982.4_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	55					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GAGAGACAGCGCTGCTCAGGG	0.667																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(163-165)gcG>gcA		potassium channel tetramerization domain containing 11							27.0	26.0	26.0					17																	7256426		2203	4300	6503	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256426G>A	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.165G>A	17.37:g.7256426G>A						RP11-542C16.1_ENST00000572417.1_RNA	p.A55A	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1219	+		Prostate(122;0.157)	55					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.165G>A	CCDS32545.1																																																																																				0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		6	7	0	0	0	1	0	6	7				
IFI35	3430	broad.mit.edu	37	17	41166147	41166147	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41166147G>A	ENST00000415816.2	+	7	915	c.692G>A	c.(691-693)cGc>cAc	p.R231H	IFI35_ENST00000438323.2_Missense_Mutation_p.R233H	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	231					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCAGTTCCCCGCTCGGTACTG	0.632																																						ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(691-693)cGc>cAc		interferon-induced protein 35							75.0	77.0	76.0					17																	41166147		2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166147G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.692G>A	17.37:g.41166147G>A	ENSP00000394579:p.Arg231His					IFI35_ENST00000438323.2_Missense_Mutation_p.R233H	p.R231H	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	915	+		Breast(137;0.00499)	231					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.692G>A		.	.	.	.	.	.	.	.	.	.	G	11.86	1.763797	0.31228	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.43688	0.94;0.94	5.7	-0.716	0.11212	Nmi/IFP 35 (1);	0.400909	0.24578	N	0.037329	T	0.24661	0.0598	L	0.27053	0.805	0.09310	N	1	B	0.26081	0.141	B	0.15484	0.013	T	0.13926	-1.0491	10	0.42905	T	0.14	-4.0751	9.6345	0.39800	0.5805:0.0:0.4195:0.0	.	231	P80217	IN35_HUMAN	H	231;233	ENSP00000394579:R231H;ENSP00000395590:R233H	ENSP00000394579:R231H	R	+	2	0	IFI35	38419673	0.008000	0.16893	0.000000	0.03702	0.025000	0.11179	1.834000	0.39171	-0.008000	0.14320	0.462000	0.41574	CGC		0.632	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		30	58	0	0	0	1	0	30	58				
ARID2	196528	broad.mit.edu	37	12	46245688	46245688	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46245688G>A	ENST00000334344.6	+	15	3954	c.3782G>A	c.(3781-3783)cGt>cAt	p.R1261H	ARID2_ENST00000422737.1_Missense_Mutation_p.R1112H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R871H|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1261					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTCATGAACGTAAAATTGAA	0.428			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3781-3783)cGt>cAt		AT rich interactive domain 2 (ARID, RFX-like)							67.0	63.0	64.0					12																	46245688		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245688G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3782G>A	12.37:g.46245688G>A	ENSP00000335044:p.Arg1261His					ARID2_ENST00000422737.1_Missense_Mutation_p.R1112H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.R871H	p.R1261H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3954	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1261					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3782G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930702	0.73327	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.57436	0.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.66540	-0.5898	10	0.87932	D	0	-10.2225	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1261;871;1261	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	1261;378;378;1112;871	ENSP00000335044:R1261H	ENSP00000335044:R1261H	R	+	2	0	ARID2	44531955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.188000	0.94921	2.941000	0.99782	0.655000	0.94253	CGT		0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		11	27	0	0	0	1	0	11	27				
ADAMTS9	56999	broad.mit.edu	37	3	64617536	64617536	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64617536G>A	ENST00000498707.1	-	15	2583	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	ADAMTS9_ENST00000295903.4_Silent_p.G719G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	747	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AAGAATTATCGCCACCACAAA	0.363																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2239-2241)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							118.0	117.0	117.0					3																	64617536		2202	4300	6502	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64617536G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2241C>T	3.37:g.64617536G>A						ADAMTS9_ENST00000295903.4_Silent_p.G719G	p.G747G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	15	2583	-		Lung NSC(201;0.00682)	747			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.2241C>T	CCDS2903.1																																																																																				0.363	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			31	46	0	0	0	1	0	31	46				
NUCB1	4924	broad.mit.edu	37	19	49409102	49409102	+	Silent	SNP	G	G	A	rs371520715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49409102G>A	ENST00000405315.4	+	4	670	c.336G>A	c.(334-336)cgG>cgA	p.R112R	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R112R|NUCB1_ENST00000407032.1_Silent_p.R112R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	112						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CACGGCTGCGGATGCTGCTCA	0.657																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(334-336)cgG>cgA		nucleobindin 1							39.0	37.0	38.0					19																	49409102		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49409102G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.336G>A	19.37:g.49409102G>A						NUCB1_ENST00000407032.1_Silent_p.R112R|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R112R	p.R112R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	4	670	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	112					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.336G>A	CCDS12740.1																																																																																				0.657	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		12	18	0	0	0	1	0	12	18				
PTPRG	5793	broad.mit.edu	37	3	62253392	62253392	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62253392C>T	ENST00000474889.1	+	19	3149	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Silent_p.T895T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	924	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACATTGCCACCCAAGGACCTT	0.383																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2770-2772)acC>acT		protein tyrosine phosphatase, receptor type, G							155.0	147.0	150.0					3																	62253392		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62253392C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2772C>T	3.37:g.62253392C>T						PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Silent_p.T895T|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.T924T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	19	3149	+			924			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.2772C>T	CCDS2895.1																																																																																				0.383	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		50	65	0	0	0	1	0	50	65				
PIH1D1	55011	broad.mit.edu	37	19	49954061	49954061	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49954061C>T	ENST00000262265.5	-	2	370	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PIH1D1_ENST00000596049.1_Silent_p.S45S|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	45					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGATTTGTGTCGATTCTGGTC	0.552																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(133-135)tcG>tcA		PIH1 domain containing 1							197.0	172.0	181.0					19																	49954061		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954061C>T	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.135G>A	19.37:g.49954061C>T						PIH1D1_ENST00000596049.1_Silent_p.S45S	p.S45S	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	2	370	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	45					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.135G>A	CCDS12765.1																																																																																				0.552	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		35	73	0	0	0	1	0	35	73				
FZD9	8326	broad.mit.edu	37	7	72849639	72849639	+	Silent	SNP	C	C	T	rs199498649	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72849639C>T	ENST00000344575.3	+	1	1531	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	434					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAGACGGGCGGCACCAACA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		17391	0.002		0.0	False		,,,				2504	0.0				Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1300-1302)ggC>ggT		frizzled family receptor 9							57.0	59.0	58.0					7																	72849639		2202	4300	6502	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849639C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1302C>T	7.37:g.72849639C>T							p.G434G	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1531	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	434						Silent	SNP	ENST00000344575.3	37	c.1302C>T	CCDS5548.1																																																																																				0.587	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			3	19	0	0	0	1	0	3	19				
PLK1	5347	broad.mit.edu	37	16	23700886	23700886	+	Silent	SNP	G	G	A	rs139428942	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23700886G>A	ENST00000300093.4	+	9	1608	c.1497G>A	c.(1495-1497)ccG>ccA	p.P499P	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	499	Linker.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ACATCACGCCGCGCGAAGGTG	0.577																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1495-1497)ccG>ccA		polo-like kinase 1		G		3,4391	6.2+/-15.9	0,3,2194	48.0	49.0	49.0		1497	-10.9	0.0	16	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLK1	NM_005030.3		0,5,6492	AA,AG,GG		0.0233,0.0683,0.0385		499/604	23700886	5,12989	2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700886G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1497G>A	16.37:g.23700886G>A							p.P499P	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1608	+			499			Linker.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1497G>A	CCDS10616.1																																																																																				0.577	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		17	25	0	0	0	1	0	17	25				
PAX1	5075	broad.mit.edu	37	20	21687107	21687107	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:21687107C>T	ENST00000398485.2	+	2	372	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.G82G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	106	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCAGCTGGGCGGTGTGTTCG	0.662																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(316-318)ggC>ggT		paired box 1							34.0	39.0	37.0					20																	21687107		2203	4299	6502	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687107C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.318C>T	20.37:g.21687107C>T						PAX1_ENST00000444366.2_Silent_p.G82G|PAX1_ENST00000460221.1_Intron	p.G106G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	372	+			106			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.318C>T	CCDS13146.2																																																																																				0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			20	32	0	0	0	1	0	20	32				
RBPJ	3516	broad.mit.edu	37	4	26407825	26407825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:26407825C>T	ENST00000361572.6	+	3	321	c.127C>T	c.(127-129)Cga>Tga	p.R43*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.R29*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.R28*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.R29*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.R30*|RBPJ_ENST00000342320.4_Nonsense_Mutation_p.R29*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.R43*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.R8*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	43					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTTAAAAGAGCGAGGGGATCA	0.318																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(85-87)Cga>Tga		recombination signal binding protein for immunoglobulin kappa J region							100.0	110.0	107.0					4																	26407825		2203	4299	6502	SO:0001587	stop_gained	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26407825C>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.127C>T	4.37:g.26407825C>T	ENSP00000354528:p.Arg43*					RBPJ_ENST00000348160.4_Nonsense_Mutation_p.R30*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.R29*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.R43*|RBPJ_ENST00000504907.1_Nonsense_Mutation_p.R29*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.R8*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.R43*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.R28*	p.R29*			Q06330	SUH_HUMAN			3	261	+		Breast(46;0.0503)	43					B4DY22|Q5XKH9|Q6P1N3	Nonsense_Mutation	SNP	ENST00000361572.6	37	c.85C>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870387	0.72065	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000514807;ENST00000348160;ENST00000509158;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	.	.	.	5.4	2.57	0.30868	.	0.067509	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.045	13.6333	0.62208	0.5343:0.4657:0.0:0.0	.	.	.	.	X	29;66;29;43;28;43;43;29;30;29;29;8;29;8;29;8;29;29;29;8	.	ENSP00000345206:R43X	R	+	1	2	RBPJ	26016923	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.989000	0.40707	0.185000	0.20105	0.591000	0.81541	CGA		0.318	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		22	44	0	0	0	1	0	22	44				
CDC42EP2	10435	broad.mit.edu	37	11	65088567	65088567	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65088567G>A	ENST00000544348.1	+	2	804	c.198G>A	c.(196-198)ccG>ccA	p.P66P	CDC42EP2_ENST00000279249.2_Silent_p.P66P|CDC42EP2_ENST00000533419.1_Silent_p.P66P			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	66					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						ACCTCCTGCCGGGGACCATGG	0.652																																						ENST00000544348.1																			0				lung(1)	1						c.(196-198)ccG>ccA		CDC42 effector protein (Rho GTPase binding) 2							74.0	72.0	73.0					11																	65088567		2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088567G>A	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.198G>A	11.37:g.65088567G>A						CDC42EP2_ENST00000279249.2_Silent_p.P66P|CDC42EP2_ENST00000533419.1_Silent_p.P66P	p.P66P			O14613	BORG1_HUMAN			2	804	+			66					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.198G>A	CCDS8099.1																																																																																				0.652	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		20	41	0	0	0	1	0	20	41				
PCDHB15	56121	broad.mit.edu	37	5	140626753	140626753	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140626753G>A	ENST00000231173.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTTCCCG	0.662																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1606-1608)cGc>cAc									49.0	59.0	56.0					5																	140626753		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626753G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1607G>A	5.37:g.140626753G>A	ENSP00000231173:p.Arg536His						p.R536H	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1607	+			536			Cadherin 5.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1607G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	5.864	0.343601	0.11126	.	.	ENSG00000113248	ENST00000231173	T	0.01745	4.66	4.37	1.4	0.22301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	N	0.11756	0.17	0.09310	N	1	B	0.24920	0.114	B	0.27608	0.081	T	0.49322	-0.8952	9	0.42905	T	0.14	.	6.5389	0.22369	0.2517:0.2459:0.5023:0.0	.	536	Q9Y5E8	PCDBF_HUMAN	H	536	ENSP00000231173:R536H	ENSP00000231173:R536H	R	+	2	0	PCDHB15	140606937	0.000000	0.05858	0.072000	0.20136	0.420000	0.31355	-0.601000	0.05687	0.085000	0.17107	0.485000	0.47835	CGC		0.662	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		19	28	0	0	0	1	0	19	28				
NBEAL2	23218	broad.mit.edu	37	3	47049635	47049635	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47049635G>A	ENST00000450053.3	+	50	7857	c.7678G>A	c.(7678-7680)Gcc>Acc	p.A2560T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2376T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A809T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2560					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGCTGTGTGGCCATCAGCAC	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7678-7680)Gcc>Acc		neurobeachin-like 2							98.0	97.0	97.0					3																	47049635		2172	4281	6453	SO:0001583	missense	23218						binding	g.chr3:47049635G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7678G>A	3.37:g.47049635G>A	ENSP00000415034:p.Ala2560Thr					NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2376T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A809T	p.A2560T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	50	7857	+		Acute lymphoblastic leukemia(5;0.0534)	2560					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.7678G>A	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.225825|5.225825|5.225825	0.95173|0.95173|0.95173	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829|ENST00000416683	T;T;T|.|.	0.63744|.|.	-0.06;-0.06;-0.06|.|.	5.16|5.16|5.16	5.16|5.16|5.16	0.70880|0.70880|0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.|.	0.102883|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|.	0.74245|0.74245|.	0.3691|0.3691|.	M|M|M	0.72576|0.72576|0.72576	2.205|2.205|2.205	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.89917|.|.	1.0;0.743|.|.	D;P|.|.	0.87578|.|.	0.998;0.705|.|.	T|T|.	0.73672|0.73672|.	-0.3909|-0.3909|.	10|5|.	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	16.1922|16.1922|16.1922	0.82000|0.82000|0.82000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	2376;2560|.|.	Q6ZNJ1-2;Q6ZNJ1|.|.	.;NBEL2_HUMAN|.|.	T|D|X	2376;809;2560;503|898|1847	ENSP00000292309:A2376T;ENSP00000373246:A809T;ENSP00000415034:A2560T|.|.	ENSP00000292309:A2376T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	NBEAL2|NBEAL2|NBEAL2	47024639|47024639|47024639	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	5.098000|5.098000|5.098000	0.64548|0.64548|0.64548	2.676000|2.676000|2.676000	0.91093|0.91093|0.91093	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|GGC|TGG		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		13	16	0	0	0	1	0	13	16				
RBM12B	389677	broad.mit.edu	37	8	94748478	94748478	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:94748478C>A	ENST00000399300.2	-	3	374	c.161G>T	c.(160-162)aGa>aTa	p.R54I	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.R54I|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	54							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TATGGCACGTCTTGCATCTTC	0.408																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(160-162)aGa>aTa		RNA binding motif protein 12B							137.0	129.0	131.0					8																	94748478		1816	4096	5912	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748478C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.161G>T	8.37:g.94748478C>A	ENSP00000382239:p.Arg54Ile					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R54I	p.R54I	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	374	-	Breast(36;4.14e-07)		54					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.161G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079256	0.76528	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.15256	3.04;3.04;2.44;2.44;3.04;3.04	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000013	T	0.44953	0.1318	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32903	-0.9889	10	0.87932	D	0	-17.9798	19.4609	0.94916	0.0:1.0:0.0:0.0	.	54	Q8IXT5	RB12B_HUMAN	I	54	ENSP00000382239:R54I;ENSP00000427729:R54I;ENSP00000430474:R54I;ENSP00000428269:R54I;ENSP00000429807:R54I;ENSP00000430466:R54I	ENSP00000382239:R54I	R	-	2	0	RBM12B	94817654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.688000	0.91661	0.655000	0.94253	AGA		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		40	66	1	0	1.47244e-24	1	1.64277e-24	40	66				
TCTN2	79867	broad.mit.edu	37	12	124191586	124191586	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124191586G>A	ENST00000303372.5	+	17	2078	c.1950G>A	c.(1948-1950)ccG>ccA	p.P650P	TCTN2_ENST00000426174.2_Silent_p.P649P|RP11-338K17.8_ENST00000538837.1_lincRNA	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	650					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGTGTTGGCCGCAGCTTCTAT	0.328																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1948-1950)ccG>ccA		tectonic family member 2							94.0	95.0	95.0					12																	124191586		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124191586G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1950G>A	12.37:g.124191586G>A						TCTN2_ENST00000426174.2_Silent_p.P649P	p.P650P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	17	2078	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		650					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.1950G>A	CCDS9253.1																																																																																				0.328	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		21	25	0	0	0	1	0	21	25				
SERPING1	710	broad.mit.edu	37	11	57367677	57367677	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57367677C>A	ENST00000278407.4	+	3	604	c.377C>A	c.(376-378)cCt>cAt	p.P126H	SERPING1_ENST00000378324.2_Missense_Mutation_p.P74H|SERPING1_ENST00000403558.1_Missense_Mutation_p.P160H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P126H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P131H	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	126			Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGCCCAGGACCTGTTACTCTC	0.562																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27	GRCh37	CI087129	SERPING1	I		c.(478-480)cCt>cAt		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							185.0	195.0	192.0					11																	57367677		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367677C>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.377C>A	11.37:g.57367677C>A	ENSP00000278407:p.Pro126His					SERPING1_ENST00000278407.4_Missense_Mutation_p.P126H|SERPING1_ENST00000378324.2_Missense_Mutation_p.P74H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P131H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P126H	p.P160H	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	845	+			126					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.479C>A	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445451	0.63178	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.94650	-3.48;-2.1;-2.2;-2.09;-2.05;-2.23	5.94	5.03	0.67393	Serpin domain (1);	0.303544	0.37393	N	0.002115	D	0.95875	0.8657	L	0.57536	1.79	0.09310	N	0.999995	D;D;D;D	0.89917	0.998;1.0;0.998;0.998	P;D;P;P	0.72625	0.873;0.978;0.818;0.818	D	0.90629	0.4565	10	0.59425	D	0.04	.	10.9695	0.47431	0.0:0.9144:0.0:0.0856	.	131;160;126;126	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	H	126;126;126;131;74;160	ENSP00000384561:P126H;ENSP00000278407:P126H;ENSP00000341861:P126H;ENSP00000367574:P131H;ENSP00000367575:P74H;ENSP00000384420:P160H	ENSP00000278407:P126H	P	+	2	0	SERPING1	57124253	0.175000	0.23083	0.022000	0.16811	0.178000	0.23041	2.242000	0.43106	1.517000	0.48917	0.561000	0.74099	CCT		0.562	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		58	97	1	0	6.1719e-39	1	6.93416e-39	58	97				
FAM57A	79850	broad.mit.edu	37	17	641189	641189	+	Missense_Mutation	SNP	C	C	T	rs371723776		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:641189C>T	ENST00000308278.8	+	3	546	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	FAM57A_ENST00000301324.8_Missense_Mutation_p.R104C|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	104	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R104C(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		AGACCAGAACCGTGCGCCCTC	0.517																																						ENST00000308278.8																			1	Substitution - Missense(1)	p.R104C(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(310-312)Cgt>Tgt		family with sequence similarity 57, member A		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	213.0	185.0	194.0		310	2.5	0.0	17		194	0,8600		0,0,4300	no	missense	FAM57A	NM_024792.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	104/258	641189	1,13005	2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641189C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.310C>T	17.37:g.641189C>T	ENSP00000312017:p.Arg104Cys					FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.R104C	p.R104C	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	546	+			104			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.310C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726624	0.30593	2.27E-4	0.0	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	2.52	0.30459	TRAM/LAG1/CLN8 homology domain (3);	3.888680	0.03023	U	0.151098	T	0.41511	0.1162	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.08055	0.002;0.003	T	0.37979	-0.9682	9	0.59425	D	0.04	0.666	10.9356	0.47243	0.3059:0.6241:0.0:0.07	.	104;104	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	C	104;104;177	.	ENSP00000301324:R104C	R	+	1	0	FAM57A	587939	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	0.600000	0.24104	0.824000	0.34613	0.638000	0.83543	CGT		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		11	153	0	0	0	1	0	11	153				
PRMT7	54496	broad.mit.edu	37	16	68358611	68358611	+	Missense_Mutation	SNP	G	G	A	rs143219221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68358611G>A	ENST00000339507.5	+	5	988	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron|PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000348497.4_Missense_Mutation_p.R53Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	53	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAAGGTATCCGGGCTGCCGTG	0.488																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(157-159)cGg>cAg		protein arginine methyltransferase 7		G	,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	105.0	89.0	95.0		,158	0.2	1.0	16	dbSNP_134	95	0,8600		0,0,4300	no	intron,missense	PRMT7	NM_001184824.1,NM_019023.2	,43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,benign	,53/693	68358611	1,12995	2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68358611G>A	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.158G>A	16.37:g.68358611G>A	ENSP00000343103:p.Arg53Gln					PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000348497.4_Missense_Mutation_p.R53Q|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Intron	p.R53Q			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	5	988	+		Ovarian(137;0.192)	53					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.158G>A	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037815	0.35989	2.27E-4	0.0	ENSG00000132600	ENST00000348497;ENST00000339507	T;T	0.22336	1.96;1.96	5.46	0.181	0.15073	.	0.285942	0.40640	N	0.001045	T	0.10680	0.0261	N	0.19112	0.55	0.22610	N	0.998939	B;B	0.23316	0.028;0.083	B;B	0.16722	0.006;0.016	T	0.31447	-0.9943	10	0.21014	T	0.42	-14.0627	8.8467	0.35174	0.3937:0.0:0.6063:0.0	.	53;53	Q9NVM4;Q9NVM4-4	ANM7_HUMAN;.	Q	53	ENSP00000345775:R53Q;ENSP00000343103:R53Q	ENSP00000343103:R53Q	R	+	2	0	PRMT7	66916112	1.000000	0.71417	0.995000	0.50966	0.205000	0.24178	3.453000	0.52978	0.034000	0.15491	-0.469000	0.05056	CGG		0.488	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		3	36	0	0	0	1	0	3	36				
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TAGGCAAAGAGGCCGCTGTAT	0.522																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(751-753)Ctc>Atc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							205.0	176.0	186.0					16																	87874675		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874675G>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.751C>A	16.37:g.87874675G>T	ENSP00000261622:p.Leu251Ile					SLC7A5_ENST00000565644.1_5'UTR	p.L251I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	816	-			251					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.751C>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512358	0.64522	.	.	ENSG00000103257	ENST00000261622	D	0.90676	-2.71	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94506	0.7714	10	0.34782	T	0.22	.	18.0096	0.89219	0.0:0.0:1.0:0.0	.	251	Q01650	LAT1_HUMAN	I	251	ENSP00000261622:L251I	ENSP00000261622:L251I	L	-	1	0	SLC7A5	86432176	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	5.427000	0.66483	2.503000	0.84419	0.561000	0.74099	CTC		0.522	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		13	46	1	0	4.93089e-13	1	5.3475e-13	13	46				
SNCAIP	9627	broad.mit.edu	37	5	121786403	121786403	+	Missense_Mutation	SNP	C	C	T	rs28937592	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:121786403C>T	ENST00000261368.8	+	10	2123	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R223C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R561C|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R668C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R668C|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R179C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R255C|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	621			R -> C (found in patients with symptoms of Parkinson disease; unknown pathological significance; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type (wt) protein when subjected to proteasomal inhibition; C- 621 transfected cells are more susceptible to staurosporine-induced cell death than cells expressin wt protein; dbSNP:rs28937592). {ECO:0000269|PubMed:12761037, ECO:0000269|PubMed:18366718}.		cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.R668C(2)|p.R621C(2)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAAAATCTTACGCCAGTTATT	0.458													C|||	6	0.00119808	0.0	0.0029	5008	,	,		20405	0.0		0.004	False		,,,				2504	0.0					ENST00000261367.7																			4	Substitution - Missense(4)	p.R668C(2)|p.R621C(2)	prostate(2)|endometrium(2)	NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39	GRCh37	CM030964	SNCAIP	M	rs28937592	c.(2002-2004)Cgc>Tgc		synuclein, alpha interacting protein		C	CYS/ARG	4,4402	6.2+/-15.9	0,4,2199	56.0	64.0	61.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1861	6.1	1.0	5	dbSNP_125	61	50,8550	31.7+/-84.0	0,50,4250	yes	missense	SNCAIP	NM_005460.2	180	0,54,6449	TT,TC,CC		0.5814,0.0908,0.4152	probably-damaging	621/920	121786403	54,12952	2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786403C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1861C>T	5.37:g.121786403C>T	ENSP00000261368:p.Arg621Cys					SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R255C|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R621C|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R223C|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R179C|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R668C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R561C|CTC-210G5.1_ENST00000510972.1_RNA	p.R668C			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3430	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	621					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2002C>T	CCDS4131.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	21.7	4.182134	0.78677	9.08E-4	0.005814	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.36340	3.17;3.86;1.44;1.26;3.86;3.55;1.26;3.34	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.997;0.993;0.998;0.999;0.998;0.999;0.995;0.997	T	0.57283	-0.7838	10	0.87932	D	0	-21.0143	20.6208	0.99490	0.0:1.0:0.0:0.0	rs28937592	561;249;223;561;255;255;668;621	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	C	179;561;621;668;561;255;668;223;261	ENSP00000441681:R179C;ENSP00000422106:R561C;ENSP00000261368:R621C;ENSP00000368848:R668C;ENSP00000368851:R561C;ENSP00000368854:R255C;ENSP00000261367:R668C;ENSP00000394392:R223C	ENSP00000261367:R668C	R	+	1	0	SNCAIP	121814302	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.251000	0.65438	2.882000	0.98803	0.655000	0.94253	CGC		0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			16	28	0	0	0	1	0	16	28				
COMMD4	54939	broad.mit.edu	37	15	75632054	75632054	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75632054G>A	ENST00000267935.8	+	7	593	c.394G>A	c.(394-396)Gca>Aca	p.A132T	COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.A110T|COMMD4_ENST00000338995.6_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	132	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GAATAGGTTGGCAGGTGTGGG	0.617																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(394-396)Gca>Aca		COMM domain containing 4							29.0	32.0	31.0					15																	75632054		2197	4294	6491	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75632054G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.394G>A	15.37:g.75632054G>A	ENSP00000267935:p.Ala132Thr					COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.A110T	p.A132T	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			7	593	+			132			COMM.		B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.394G>A	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297356	0.23650	.	.	ENSG00000140365	ENST00000267935	T	0.08984	3.03	4.79	2.9	0.33743	COMM domain (1);	0.589445	0.18064	N	0.152844	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.27380	0.079	T	0.39702	-0.9601	10	0.14252	T	0.57	.	8.5105	0.33215	0.1842:0.0:0.8158:0.0	.	132	Q9H0A8	COMD4_HUMAN	T	132	ENSP00000267935:A132T	ENSP00000267935:A132T	A	+	1	0	COMMD4	73419107	1.000000	0.71417	0.959000	0.39883	0.652000	0.38707	3.683000	0.54663	0.455000	0.26910	-0.156000	0.13503	GCA		0.617	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		9	13	0	0	0	1	0	9	13				
ANTXR1	84168	broad.mit.edu	37	2	69409770	69409770	+	Missense_Mutation	SNP	G	G	A	rs376960445		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:69409770G>A	ENST00000303714.4	+	16	1653	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	444					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTCCCCCCGGAAGTGGTAC	0.428									Familial Infantile Hemangioma				G|||	1	0.000199681	0.0	0.0	5008	,	,		18051	0.001		0.0	False		,,,				2504	0.0					ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1330-1332)cGg>cAg		anthrax toxin receptor 1		G	GLN/ARG	0,4406		0,0,2203	101.0	100.0	100.0		1331	4.0	1.0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANTXR1	NM_032208.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	444/565	69409770	1,13005	2203	4300	6503	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409770G>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1331G>A	2.37:g.69409770G>A	ENSP00000301945:p.Arg444Gln						p.R444Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1653	+			444					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1331G>A	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	8.666	0.901723	0.17760	0.0	1.16E-4	ENSG00000169604	ENST00000303714	T	0.76709	-1.04	5.84	4.02	0.46733	Anthrax toxin receptor, C-terminal (2);	0.225560	0.46758	D	0.000264	T	0.69070	0.3070	L	0.33485	1.01	0.80722	D	1	P	0.44521	0.837	B	0.40410	0.328	T	0.66941	-0.5796	10	0.35671	T	0.21	-5.2559	15.7312	0.77807	0.0:0.2778:0.7222:0.0	.	444	Q9H6X2	ANTR1_HUMAN	Q	444	ENSP00000301945:R444Q	ENSP00000301945:R444Q	R	+	2	0	ANTXR1	69263274	0.998000	0.40836	0.964000	0.40570	0.027000	0.11550	2.180000	0.42537	0.778000	0.33520	-0.311000	0.09066	CGG		0.428	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		22	37	0	0	0	1	0	22	37				
POLR1A	25885	broad.mit.edu	37	2	86304988	86304988	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86304988A>G	ENST00000263857.6	-	11	1752	c.1374T>C	c.(1372-1374)atT>atC	p.I458I	POLR1A_ENST00000409681.1_Silent_p.I458I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	458					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						acacCATGGGAATTCCAATTT	0.552																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1372-1374)atT>atC		polymerase (RNA) I polypeptide A, 194kDa							105.0	107.0	107.0					2																	86304988		2003	4150	6153	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86304988A>G	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1374T>C	2.37:g.86304988A>G						POLR1A_ENST00000409681.1_Silent_p.I458I	p.I458I			O95602	RPA1_HUMAN			11	1752	-			458					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.1374T>C	CCDS42706.1																																																																																				0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		10	64	0	0	0	1	0	10	64				
CCDC74B	91409	broad.mit.edu	37	2	130900698	130900698	+	Intron	SNP	C	C	T	rs576013893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130900698C>T	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409234.3_Missense_Mutation_p.A147T|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTAGAGGTAGCGGCATCTGTC	0.647													.|||	1	0.000199681	0.0	0.0	5008	,	,		18679	0.0		0.001	False		,,,				2504	0.0					ENST00000409234.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(439-441)Gct>Act		coiled-coil domain containing 74B																																				SO:0001627	intron_variant	91409							g.chr2:130900698C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.295+143G>A	2.37:g.130900698C>T						CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_5'UTR	p.A147T			Q96LY2	CC74B_HUMAN			2	525	-	Colorectal(110;0.1)		285					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.439G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	15.02	2.709614	0.48517	.	.	ENSG00000152076	ENST00000409234	.	.	.	2.34	-4.68	0.03309	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.19300	N	0.999976	B	0.22480	0.07	B	0.08055	0.003	T	0.25779	-1.0122	7	0.87932	D	0	.	0.2039	0.00148	0.2241:0.169:0.2272:0.3797	.	147	E9PG54	.	T	147	.	ENSP00000386303:A147T	A	-	1	0	CCDC74B	130617168	0.054000	0.20591	0.000000	0.03702	0.012000	0.07955	-0.040000	0.12104	-1.031000	0.03308	0.298000	0.19748	GCT		0.647	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		4	3	0	0	0	1	0	4	3				
LLGL1	3996	broad.mit.edu	37	17	18144821	18144821	+	Missense_Mutation	SNP	G	G	T	rs56406965		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18144821G>T	ENST00000316843.4	+	18	2655	c.2559G>T	c.(2557-2559)gaG>gaT	p.E853D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	853					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGGCCCATGAGGGCTGTCGTG	0.627																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2557-2559)gaG>gaT		lethal giant larvae homolog 1 (Drosophila)							66.0	49.0	55.0					17																	18144821		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18144821G>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2559G>T	17.37:g.18144821G>T	ENSP00000321537:p.Glu853Asp						p.E853D	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			18	2655	+	all_neural(463;0.228)		853					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.2559G>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267702	0.40095	.	.	ENSG00000131899	ENST00000316843	T	0.35048	1.33	5.69	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.38838	1.175	0.54753	D	0.999985	P	0.46706	0.883	B	0.34346	0.18	T	0.03534	-1.1027	10	0.25106	T	0.35	-30.0797	9.0371	0.36293	0.3401:0.0:0.6599:0.0	.	853	Q15334	L2GL1_HUMAN	D	853	ENSP00000321537:E853D	ENSP00000321537:E853D	E	+	3	2	LLGL1	18085546	0.998000	0.40836	0.994000	0.49952	0.919000	0.55068	0.533000	0.23082	0.176000	0.19873	-0.150000	0.13652	GAG		0.627	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			6	11	1	0	0.248553	1	0.248844	6	11				
RASGRP3	25780	broad.mit.edu	37	2	33745674	33745674	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:33745674T>C	ENST00000403687.3	+	6	1031	c.291T>C	c.(289-291)cgT>cgC	p.R97R	RASGRP3_ENST00000407811.1_Silent_p.R97R|RASGRP3_ENST00000402538.3_Silent_p.R97R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTTTGATTCGTATGACTGAGG	0.423																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(289-291)cgT>cgC		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							256.0	250.0	252.0					2																	33745674		1901	4115	6016	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745674T>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.291T>C	2.37:g.33745674T>C						RASGRP3_ENST00000407811.1_Silent_p.R97R|RASGRP3_ENST00000402538.3_Silent_p.R97R	p.R97R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	1031	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.291T>C	CCDS46256.1																																																																																				0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		26	128	0	0	0	1	0	26	128				
KRT81	3887	broad.mit.edu	37	12	52681897	52681897	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52681897G>T	ENST00000327741.5	-	5	839	c.771C>A	c.(769-771)acC>acA	p.T257T	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	257	Linker 12.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACCACGGAGGTGTCTGAGA	0.552																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(769-771)acC>acA		keratin 81							126.0	111.0	116.0					12																	52681897		2203	4300	6503	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681897G>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.771C>A	12.37:g.52681897G>T						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.T257T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	839	-			257			Linker 12.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.771C>A	CCDS31805.1																																																																																				0.552	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		4	73	1	0	0.150653	1	0.151081	4	73				
AMACR	23600	broad.mit.edu	37	5	34005919	34005919	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34005919G>A	ENST00000335606.6	-	2	421	c.333C>T	c.(331-333)ggC>ggT	p.G111G	AMACR_ENST00000426255.2_Silent_p.G111G|AMACR_ENST00000382068.3_Silent_p.G111G|AMACR_ENST00000502637.1_Silent_p.G111G|AMACR_ENST00000382072.2_Silent_p.G111G|AMACR_ENST00000512079.1_Silent_p.G111G|AMACR_ENST00000382085.3_Silent_p.G111G|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.P259S|AMACR_ENST00000441713.2_Silent_p.G111G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	111					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TTCCTGACTGGCCAAATCCAC	0.433																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(331-333)ggC>ggT		alpha-methylacyl-CoA racemase							55.0	59.0	58.0					5																	34005919		2203	4300	6503	SO:0001819	synonymous_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005919G>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.333C>T	5.37:g.34005919G>A						AMACR_ENST00000441713.2_Silent_p.G111G|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Silent_p.G111G|AMACR_ENST00000382085.3_Silent_p.G111G|AMACR_ENST00000382072.2_Silent_p.G111G	p.G111G	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			2	421	-			111					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	c.333C>T	CCDS3902.1																																																																																				0.433	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		5	58	0	0	0	1	0	5	58				
NPTXR	23467	broad.mit.edu	37	22	39222688	39222688	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39222688C>T	ENST00000333039.2	-	3	1038	c.915G>A	c.(913-915)atG>atA	p.M305I		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	305	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CGCGGGCGTACATGTAGTTGT	0.632																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(913-915)atG>atA		neuronal pentraxin receptor							97.0	86.0	90.0					22																	39222688		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39222688C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.915G>A	22.37:g.39222688C>T	ENSP00000327545:p.Met305Ile						p.M305I	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			3	1038	-	Melanoma(58;0.04)		305			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.915G>A	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181446	0.94885	.	.	ENSG00000221890	ENST00000333039	T	0.58652	0.32	4.64	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.118102	0.85682	D	0.000000	T	0.71550	0.3353	L	0.56340	1.77	0.41875	D	0.990294	D	0.56521	0.976	D	0.72338	0.977	T	0.66763	-0.5841	9	0.31617	T	0.26	-73.0102	18.8307	0.92137	0.0:1.0:0.0:0.0	.	305	O95502	NPTXR_HUMAN	I	305	ENSP00000327545:M305I	ENSP00000327545:M305I	M	-	3	0	NPTXR	37552634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.603000	0.82811	2.861000	0.98227	0.655000	0.94253	ATG		0.632	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		10	26	0	0	0	1	0	10	26				
MTUS2	23281	broad.mit.edu	37	13	29599505	29599505	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29599505G>A	ENST00000431530.3	+	1	758	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	224						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A234S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCAGACCACGCTGTCCCGGC	0.592																																						ENST00000431530.3																			1	Substitution - Missense(1)	p.A234S(1)	lung(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(700-702)Gct>Act		microtubule associated tumor suppressor candidate 2							40.0	42.0	41.0					13																	29599505		2200	4300	6500	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599505G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.700G>A	13.37:g.29599505G>A	ENSP00000392057:p.Ala234Thr						p.A234T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	758	+			224					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.700G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	9.010	0.982288	0.18889	.	.	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.48	1.7	0.24286	.	1.488280	0.04074	N	0.308505	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.36311	-0.9753	9	.	.	.	.	2.8439	0.05537	0.1366:0.1034:0.1515:0.6085	.	224	Q5JR59	MTUS2_HUMAN	T	234	ENSP00000392057:A234T	.	A	+	1	0	MTUS2	28497505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.278000	0.18753	0.347000	0.23924	-0.410000	0.06199	GCT		0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		16	11	0	0	0	1	0	16	11				
SLC6A19	340024	broad.mit.edu	37	5	1213643	1213643	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1213643G>A	ENST00000304460.10	+	5	785	c.729G>A	c.(727-729)acG>acA	p.T243T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	243					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGCCTGACGCTGAAGGGCG	0.662																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(727-729)acG>acA		solute carrier family 6 (neutral amino acid transporter), member 19							118.0	77.0	91.0					5																	1213643		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1213643G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.729G>A	5.37:g.1213643G>A							p.T243T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	785	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		243					A8K446	Silent	SNP	ENST00000304460.10	37	c.729G>A	CCDS34130.1																																																																																				0.662	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		11	15	0	0	0	1	0	11	15				
PRDM15	63977	broad.mit.edu	37	21	43282055	43282055	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43282055G>A	ENST00000269844.3	-	6	791	c.681C>T	c.(679-681)caC>caT	p.H227H	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AAGGTATCTCGTGCGGCTCTA	0.512																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(679-681)caC>caT		PR domain containing 15							91.0	72.0	78.0					21																	43282055		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43282055G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.681C>T	21.37:g.43282055G>A						PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron	p.H227H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN			6	791	-			227					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.681C>T	CCDS13676.1																																																																																				0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		14	7	0	0	0	1	0	14	7				
YARS	8565	broad.mit.edu	37	1	33246678	33246678	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33246678G>A	ENST00000373477.4	-	10	2019	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	371	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCCCACACGGATATCCAGC	0.507																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1111-1113)Cgt>Tgt		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						135.0	122.0	127.0					1																	33246678		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33246678G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1111C>T	1.37:g.33246678G>A	ENSP00000362576:p.Arg371Cys					YARS_ENST00000469100.1_5'UTR	p.R371C	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			10	2019	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	371			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1111C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530468	0.85706	.	.	ENSG00000134684	ENST00000373477	T	0.78246	-1.16	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94248	0.7491	10	0.66056	D	0.02	-8.3645	17.8828	0.88845	0.0:0.0:1.0:0.0	.	371	P54577	SYYC_HUMAN	C	371	ENSP00000362576:R371C	ENSP00000362576:R371C	R	-	1	0	YARS	33019265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.441000	0.66569	2.735000	0.93741	0.591000	0.81541	CGT		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		32	52	0	0	0	1	0	32	52				
DLST	1743	broad.mit.edu	37	14	75368922	75368922	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75368922C>T	ENST00000334220.4	+	15	1312	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	DLST_ENST00000334212.6_Silent_p.Y331Y	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	417					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CCATGATGTACGTGGCACTGA	0.547																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1249-1251)taC>taT		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							80.0	58.0	66.0					14																	75368922		2203	4300	6503	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75368922C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1251C>T	14.37:g.75368922C>T						DLST_ENST00000334212.6_Silent_p.Y331Y	p.Y417Y	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	15	1312	+			417					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.1251C>T	CCDS9833.1																																																																																				0.547	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			7	10	0	0	0	1	0	7	10				
ZFYVE28	57732	broad.mit.edu	37	4	2306602	2306602	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2306602C>A	ENST00000290974.2	-	8	1804	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D459Y|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D419Y|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	489					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCCCAGCCGTCCAGGTGCAGC	0.652																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1465-1467)Gac>Tac		zinc finger, FYVE domain containing 28							38.0	39.0	38.0					4																	2306602		2136	4195	6331	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306602C>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1465G>T	4.37:g.2306602C>A	ENSP00000290974:p.Asp489Tyr					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D459Y|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D419Y	p.D489Y	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1804	-			489					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1465G>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923839	0.52653	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.60797	0.18;0.16;0.18	4.28	3.34	0.38264	.	0.169199	0.49916	D	0.000127	T	0.59891	0.2227	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.965;0.991	P;P	0.55871	0.748;0.786	T	0.63171	-0.6697	10	0.72032	D	0.01	.	3.9215	0.09245	0.0:0.6862:0.0:0.3138	.	459;489	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	Y	489;459;419	ENSP00000290974:D489Y;ENSP00000425706:D459Y;ENSP00000426299:D419Y	ENSP00000290974:D489Y	D	-	1	0	ZFYVE28	2276400	1.000000	0.71417	0.934000	0.37439	0.178000	0.23041	4.912000	0.63335	2.221000	0.72209	0.405000	0.27470	GAC		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		30	30	1	0	2.85442e-18	1	3.14927e-18	30	30				
VANGL2	57216	broad.mit.edu	37	1	160389121	160389121	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160389121G>A	ENST00000368061.2	+	4	996	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	174					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGGCCTCGCTGCCCCGCG	0.627																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(520-522)tcG>tcA		VANGL planar cell polarity protein 2							100.0	90.0	93.0					1																	160389121		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389121G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.522G>A	1.37:g.160389121G>A							p.S174S	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	996	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		174					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.522G>A	CCDS30915.1																																																																																				0.627	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		30	34	0	0	0	1	0	30	34				
ZNF107	51427	broad.mit.edu	37	7	64168355	64168355	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:64168355G>A	ENST00000395391.1	+	4	3048	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	ZNF107_ENST00000344930.3_Missense_Mutation_p.G558D|ZNF107_ENST00000423627.1_Missense_Mutation_p.G558D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAACATGGCAAAGTTTTT	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(1672-1674)gGc>gAc		zinc finger protein 107							42.0	47.0	45.0					7																	64168355		2201	4296	6497	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168355G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1673G>A	7.37:g.64168355G>A	ENSP00000378789:p.Gly558Asp					ZNF107_ENST00000344930.3_Missense_Mutation_p.G558D|ZNF107_ENST00000423627.1_Missense_Mutation_p.G558D	p.G558D			Q9UII5	ZN107_HUMAN			4	3048	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	558						Missense_Mutation	SNP	ENST00000395391.1	37	c.1673G>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	16.44	3.123694	0.56613	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01015	5.44;5.44;5.44	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	L	0.55834	1.745	0.34560	D	0.712307	D	0.89917	1.0	D	0.83275	0.996	T	0.53436	-0.8439	8	.	.	.	.	7.9559	0.30042	0.0:0.0:1.0:0.0	.	558	Q9UII5	ZN107_HUMAN	D	558	ENSP00000343443:G558D;ENSP00000400037:G558D;ENSP00000378789:G558D	.	G	+	2	0	ZNF107	63805790	0.998000	0.40836	0.027000	0.17364	0.215000	0.24574	2.729000	0.47327	0.635000	0.30488	0.313000	0.20887	GGC		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		36	52	0	0	0	1	0	36	52				
TNKS1BP1	85456	broad.mit.edu	37	11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	rs148640580	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2914-2916)Gcc>Acc		tankyrase 1 binding protein 1, 182kDa		C	THR/ALA	0,4402		0,0,2201	91.0	97.0	95.0		2914	-6.1	0.0	11	dbSNP_134	95	2,8590	2.2+/-6.3	0,2,4294	no	missense	TNKS1BP1	NM_033396.2	58	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	972/1730	57077271	2,12992	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077271C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2914G>A	11.37:g.57077271C>T	ENSP00000437271:p.Ala972Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T	p.A972T			Q9C0C2	TB182_HUMAN			5	3225	-		all_epithelial(135;0.21)	972			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2914G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.795840	0.00617	0.0	2.33E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30714	1.52;1.52	4.4	-6.1	0.02138	.	1.350900	0.05222	N	0.508773	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20773	-1.0265	10	0.10902	T	0.67	0.0572	1.7502	0.02970	0.5177:0.1542:0.1268:0.2013	.	972	Q9C0C2	TB182_HUMAN	T	972	ENSP00000350990:A972T;ENSP00000437271:A972T	ENSP00000350990:A972T	A	-	1	0	TNKS1BP1	56833847	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.592000	0.05747	-1.428000	0.01989	-0.448000	0.05591	GCC		0.577	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		17	76	0	0	0	1	0	17	76				
RNF103	7844	broad.mit.edu	37	2	86839316	86839316	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86839316G>A	ENST00000237455.4	-	3	1416	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	150					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGCCTGTACGTATTCCAAAT	0.388																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(448-450)Cgt>Tgt		ring finger protein 103							135.0	126.0	129.0					2																	86839316		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839316G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.448C>T	2.37:g.86839316G>A	ENSP00000237455:p.Arg150Cys					AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron	p.R150C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			3	1416	-			150					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.448C>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506834	0.85282	.	.	ENSG00000239305	ENST00000237455	T	0.56776	0.44	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.73610	-0.3928	10	0.87932	D	0	-9.4627	19.5655	0.95391	0.0:0.0:1.0:0.0	.	150	O00237	RN103_HUMAN	C	150	ENSP00000237455:R150C	ENSP00000237455:R150C	R	-	1	0	RNF103	86692827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.203000	0.77864	2.639000	0.89480	0.591000	0.81541	CGT		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		30	39	0	0	0	1	0	30	39				
TARBP1	6894	broad.mit.edu	37	1	234556542	234556542	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234556542T>G	ENST00000040877.1	-	21	3460	c.3461A>C	c.(3460-3462)aAg>aCg	p.K1154T		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1154					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTTTGGACTTGGACACTAA	0.383																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3460-3462)aAg>aCg		TAR (HIV-1) RNA binding protein 1							117.0	123.0	121.0					1																	234556542		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556542T>G		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3461A>C	1.37:g.234556542T>G	ENSP00000040877:p.Lys1154Thr						p.K1154T	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3460	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1154					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3461A>C	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528596	0.44969	.	.	ENSG00000059588	ENST00000040877	T	0.06933	3.24	5.74	-1.13	0.09775	Armadillo-type fold (1);	0.424262	0.27659	N	0.018393	T	0.06096	0.0158	L	0.50333	1.59	0.36888	D	0.88972	P	0.39282	0.666	B	0.35859	0.212	T	0.43327	-0.9398	10	0.25751	T	0.34	-3.4973	5.6379	0.17546	0.0:0.2863:0.2503:0.4634	.	1154	Q13395	TARB1_HUMAN	T	1154	ENSP00000040877:K1154T	ENSP00000040877:K1154T	K	-	2	0	TARBP1	232623165	0.969000	0.33509	0.956000	0.39512	0.868000	0.49771	0.617000	0.24359	-0.138000	0.11434	0.528000	0.53228	AAG		0.383	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		19	38	0	0	0	1	0	19	38				
FDXACB1	91893	broad.mit.edu	37	11	111747585	111747585	+	Silent	SNP	G	G	A	rs200419859		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111747585G>A	ENST00000260257.4	-	3	527	c.480C>T	c.(478-480)gaC>gaT	p.D160D	ALG9_ENST00000527377.1_5'Flank|FDXACB1_ENST00000542429.1_Silent_p.D11D|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.D160D|C11orf1_ENST00000530214.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	160					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATGGATACACGTCGCTTAAAA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18539	0.001		0.0	False		,,,				2504	0.0					ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(478-480)gaC>gaT		ALG9, alpha-1,2-mannosyltransferase							47.0	46.0	47.0					11																	111747585		1903	4118	6021	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111747585G>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.480C>T	11.37:g.111747585G>A						FDXACB1_ENST00000542429.1_Silent_p.D11D|FDXACB1_ENST00000260257.4_Silent_p.D160D	p.D160D			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	3	772	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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)	0					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.480C>T	CCDS44729.1																																																																																				0.512	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		8	8	0	0	0	1	0	8	8				
TTN	7273	broad.mit.edu	37	2	179407817	179407817	+	Missense_Mutation	SNP	C	C	T	rs199532781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179407817C>T	ENST00000591111.1	-	297	92184	c.91960G>A	c.(91960-91962)Gtg>Atg	p.V30654M	TTN_ENST00000342992.6_Missense_Mutation_p.V29727M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23355M|TTN_ENST00000460472.2_Missense_Mutation_p.V23230M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32295M|TTN_ENST00000342175.6_Missense_Mutation_p.V23422M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30654	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACAGTCACGGCTGTGACA	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(96883-96885)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3685		0,1,1842	192.0	178.0	182.0		69688,89179,70063,70264	5.9	1.0	2		182	4,8190		1,2,4094	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	1,3,5936	TT,TC,CC		0.0488,0.0271,0.0421	probably-damaging,probably-damaging,probably-damaging,probably-damaging	23230/26927,29727/33424,23355/27052,23422/27119	179407817	5,11875	1843	4097	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407817C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91960G>A	2.37:g.179407817C>T	ENSP00000465570:p.Val30654Met					TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23422M|TTN_ENST00000591111.1_Missense_Mutation_p.V30654M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23230M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29727M|TTN_ENST00000359218.5_Missense_Mutation_p.V23355M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V32295M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		347	97107	-			30654			Protein kinase.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.96883G>A		.	.	.	.	.	.	.	.	.	.	C	16.11	3.031226	0.54790	2.71E-4	4.88E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.91	5.91	0.95273	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78710	0.4326	M	0.89287	3.02	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.73708	0.965;0.965;0.965;0.981	T	0.81547	-0.0883	9	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	23230;23355;23422;30654	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	29727;23230;23422;23355;23227	ENSP00000343764:V29727M;ENSP00000434586:V23230M;ENSP00000340554:V23422M;ENSP00000352154:V23355M	ENSP00000340554:V23422M	V	-	1	0	TTN	179116063	0.996000	0.38824	0.986000	0.45419	0.814000	0.46013	3.328000	0.52052	2.793000	0.96121	0.655000	0.94253	GTG		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	80	0	0	0	1	0	63	80				
COL9A3	1299	broad.mit.edu	37	20	61467852	61467852	+	Missense_Mutation	SNP	G	G	A	rs373382239		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61467852G>A	ENST00000343916.3	+	29	1574	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	COL9A3_ENST00000462700.1_Intron	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	524	Nonhelical region 3 (NC3).			R -> H (in Ref. 5; CAA62495). {ECO:0000305}.	axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGCGAGCAGCGCATCAGGGAG	0.672																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1570-1572)cGc>cAc		collagen, type IX, alpha 3		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	31.0	35.0	34.0		1571	2.2	1.0	20		34	0,8600		0,0,4300	no	missense	COL9A3	NM_001853.3	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	524/685	61467852	1,13003	2202	4300	6502	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61467852G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1571G>A	20.37:g.61467852G>A	ENSP00000341640:p.Arg524His					COL9A3_ENST00000462700.1_Intron	p.R524H	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			29	1574	+	Breast(26;5.68e-08)		524	R -> H (in Ref. 5; CAA62495).		Nonhelical region 3 (NC3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1571G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.424080	0.43020	2.27E-4	0.0	ENSG00000092758	ENST00000343916	D	0.94280	-3.39	4.33	2.18	0.27775	.	0.156736	0.56097	N	0.000029	T	0.76772	0.4034	N	0.01352	-0.895	0.40860	D	0.983826	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.0	T	0.63786	-0.6558	10	0.29301	T	0.29	.	5.253	0.15532	0.6744:0.0:0.3256:0.0	.	27;524	Q9BT15;Q14050	.;CO9A3_HUMAN	H	524	ENSP00000341640:R524H	ENSP00000341640:R524H	R	+	2	0	COL9A3	60938297	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	2.502000	0.45398	0.282000	0.22254	0.561000	0.74099	CGC		0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		8	9	0	0	0	1	0	8	9				
ZMYND12	84217	broad.mit.edu	37	1	42915624	42915624	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42915624G>A	ENST00000372565.3	-	2	486	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	ZMYND12_ENST00000433602.2_Missense_Mutation_p.T20M	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATGCTGCCGTTCTTCCTCT	0.547																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(217-219)Cgg>Tgg		zinc finger, MYND-type containing 12							92.0	81.0	85.0					1																	42915624		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915624G>A	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.217C>T	1.37:g.42915624G>A	ENSP00000361646:p.Arg73Trp					ZMYND12_ENST00000433602.2_Missense_Mutation_p.T20M	p.R73W	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	486	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	73					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.217C>T	CCDS467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.317907|2.317907	0.40996|0.40996	.|.	.|.	ENSG00000066185|ENSG00000066185	ENST00000372565|ENST00000433602	T|T	0.55760|0.45276	0.5|0.9	5.47|5.47	3.28|3.28	0.37604|0.37604	.|.	0.230857|.	0.43110|.	D|.	0.000614|.	T|T	0.55577|0.55577	0.1929|0.1929	M|M	0.83953|0.83953	2.67|2.67	0.23396|0.23396	N|N	0.997769|0.997769	D|P	0.89917|0.52577	1.0|0.954	D|P	0.87578|0.50896	0.998|0.653	T|T	0.50110|0.50110	-0.8866|-0.8866	10|9	0.87932|0.54805	D|T	0|0.06	-17.2609|-17.2609	11.2402|11.2402	0.48964|0.48964	0.0:0.0:0.4306:0.5693|0.0:0.0:0.4306:0.5693	.|.	73|20	Q9H0C1|E9PFV0	ZMY12_HUMAN|.	W|M	73|20	ENSP00000361646:R73W|ENSP00000398340:T20M	ENSP00000361646:R73W|ENSP00000398340:T20M	R|T	-|-	1|2	2|0	ZMYND12|ZMYND12	42688211|42688211	0.986000|0.986000	0.35501|0.35501	0.979000|0.979000	0.43373|0.43373	0.975000|0.975000	0.68041|0.68041	2.020000|2.020000	0.41010|0.41010	1.094000|1.094000	0.41399|0.41399	0.313000|0.313000	0.20887|0.20887	CGG|ACG		0.547	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		25	35	0	0	0	1	0	25	35				
ZMYND8	23613	broad.mit.edu	37	20	45867699	45867699	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45867699C>A	ENST00000311275.7	-	15	2661	c.2408G>T	c.(2407-2409)aGg>aTg	p.R803M	ZMYND8_ENST00000536340.1_Missense_Mutation_p.R830M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R751M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R740M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R823M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	803					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAAAAGCGGCCTCTGCTTTTT	0.632																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2407-2409)aGg>aTg		zinc finger, MYND-type containing 8							54.0	67.0	63.0					20																	45867699		2199	4297	6496	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45867699C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2408G>T	20.37:g.45867699C>A	ENSP00000312237:p.Arg803Met					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R751M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R830M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R823M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R803M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R798M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R823M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R740M	p.R803M			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2661	-			803					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2408G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.324986|4.324986	0.81580|0.81580	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D	.|0.92348	.|-2.0;-2.55;-1.89;-2.69;-2.6;-2.57;-2.89;-1.9;-1.94;-3.02	5.71|5.71	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95560|0.95560	0.8557|0.8557	M|M	0.75264|0.75264	2.295|2.295	0.44048|0.44048	D|D	0.996786|0.996786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.998;0.998;0.999;0.999;0.999;0.999;0.999;0.998;0.998;0.998;0.998;0.998;0.998	D|D	0.95805|0.95805	0.8836|0.8836	5|10	.|0.66056	.|D	.|0.02	-8.2087|-8.2087	14.6692|14.6692	0.68932|0.68932	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	.|830;798;798;778;797;823;803;798;823;823;803;740;798;751;751;803	.|F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	D|M	730|798;803;804;824;823;803;830;803;740;823;798;751	.|ENSP00000354166:R798M;ENSP00000312237:R803M;ENSP00000335537:R823M;ENSP00000379577:R803M;ENSP00000439800:R830M;ENSP00000348246:R803M;ENSP00000396725:R740M;ENSP00000418210:R823M;ENSP00000361093:R798M;ENSP00000443086:R751M	.|ENSP00000262975:R804M	E|R	-|-	3|2	2|0	ZMYND8|ZMYND8	45301106|45301106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.784000|0.784000	0.44337|0.44337	7.670000|7.670000	0.83925|0.83925	1.419000|1.419000	0.47118|0.47118	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG		0.632	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		12	64	1	0	9.31168e-06	1	9.64599e-06	12	64				
USP7	7874	broad.mit.edu	37	16	8988926	8988926	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8988926C>T	ENST00000344836.4	-	28	3199	c.3001G>A	c.(3001-3003)Gga>Aga	p.G1001R	USP7_ENST00000381886.4_Missense_Mutation_p.G985R|USP7_ENST00000535863.1_Missense_Mutation_p.G902R	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1001					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGAACGTTCCGAAGACCTCT	0.527																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(3001-3003)Gga>Aga		ubiquitin specific peptidase 7 (herpes virus-associated)							252.0	232.0	239.0					16																	8988926		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988926C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3001G>A	16.37:g.8988926C>T	ENSP00000343535:p.Gly1001Arg					USP7_ENST00000381886.4_Missense_Mutation_p.G985R|USP7_ENST00000535863.1_Missense_Mutation_p.G902R	p.G1001R	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3199	-			1001					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.3001G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821940	0.50633	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.05319	3.46;3.46	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	N	0.03050	-0.425	0.80722	D	1	B;B	0.30605	0.287;0.145	B;B	0.17979	0.02;0.02	T	0.47484	-0.9114	10	0.06757	T	0.87	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	1001;985	Q93009;B7Z815	UBP7_HUMAN;.	R	1001;1009;902	ENSP00000343535:G1001R;ENSP00000443646:G902R	ENSP00000343535:G1001R	G	-	1	0	USP7	8896427	1.000000	0.71417	0.948000	0.38648	0.905000	0.53344	7.700000	0.84556	2.598000	0.87819	0.484000	0.47621	GGA		0.527	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			78	119	0	0	0	1	0	78	119				
KLF12	11278	broad.mit.edu	37	13	74269699	74269699	+	Silent	SNP	G	G	A	rs149878794	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:74269699G>A	ENST00000377669.2	-	7	1163	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	KLF12_ENST00000377666.4_Silent_p.C379C	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	379					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CACAGTCCGCGCACTTGAATG	0.542													G|||	11	0.00219649	0.0068	0.0029	5008	,	,		21089	0.0		0.0	False		,,,				2504	0.0					ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(1135-1137)tgC>tgT		Kruppel-like factor 12		G		57,4349	55.5+/-91.7	0,57,2146	164.0	128.0	140.0		1137	-2.8	1.0	13	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	KLF12	NM_007249.4		0,57,6446	AA,AG,GG		0.0,1.2937,0.4383		379/403	74269699	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74269699G>A	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1137C>T	13.37:g.74269699G>A						KLF12_ENST00000377666.4_Silent_p.C379C	p.C379C	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	7	1163	-		Prostate(6;0.00217)|Breast(118;0.0838)	379					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.1137C>T	CCDS9449.1																																																																																				0.542	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		36	12	0	0	0	1	0	36	12				
SLC22A12	116085	broad.mit.edu	37	11	64359171	64359171	+	Missense_Mutation	SNP	G	G	A	rs200499531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64359171G>A	ENST00000377574.1	+	1	890	c.143G>A	c.(142-144)cGc>cAc	p.R48H	SLC22A12_ENST00000473690.1_De_novo_Start_OutOfFrame|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	48					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCCAGCCACCGCTGCTGGGCA	0.637																																						ENST00000473690.1																			1	Deletion - Frameshift(1)	p.S41fs*22(1)	ovary(1)	central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27								solute carrier family 22 (organic anion/urate transporter), member 12							39.0	41.0	40.0					11																	64359171		2200	4297	6497	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359171G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.143G>A	11.37:g.64359171G>A	ENSP00000366797:p.Arg48His					SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48H|SLC22A12_ENST00000377574.1_Missense_Mutation_p.R48H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48H		NM_153378.1	NP_700357.1	Q96S37	S22AC_HUMAN			0	361	+								B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Translation_Start_Site	SNP	ENST00000377574.1	37		CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409366	0.62399	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.31	4.31	0.51392	.	0.212093	0.40728	N	0.001024	T	0.52677	0.1749	N	0.21508	0.67	0.23661	N	0.997176	D;D;D;D	0.76494	0.992;0.999;0.997;0.999	P;P;P;P	0.62813	0.557;0.766;0.907;0.766	T	0.45249	-0.9274	10	0.13853	T	0.58	.	14.28	0.66205	0.0:0.0:1.0:0.0	.	48;48;48;48	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	H	48	ENSP00000366790:R48H;ENSP00000366797:R48H;ENSP00000366795:R48H;ENSP00000336836:R48H	ENSP00000336836:R48H	R	+	2	0	SLC22A12	64115747	0.998000	0.40836	1.000000	0.80357	0.579000	0.36224	0.934000	0.28910	1.941000	0.56285	0.484000	0.47621	CGC		0.637	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		13	24	0	0	0	1	0	13	24				
FOXD2	2306	broad.mit.edu	37	1	47904507	47904507	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47904507C>T	ENST00000334793.5	+	1	2819	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	234	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GCCGCACCCACACCCGCACCC	0.746																																						ENST00000334793.5																			0				lung(4)	4						c.(700-702)Cac>Tac		forkhead box D2							11.0	14.0	13.0					1																	47904507		1940	3917	5857	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904507C>T	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.700C>T	1.37:g.47904507C>T	ENSP00000335493:p.His234Tyr						p.H234Y	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2819	+			234			Pro-rich.		Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.700C>T	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051494	0.36181	.	.	ENSG00000186564	ENST00000334793	D	0.93307	-3.2	4.27	4.27	0.50696	.	.	.	.	.	D	0.93605	0.7958	L	0.44542	1.39	0.25972	N	0.982486	D	0.57899	0.981	D	0.65140	0.932	D	0.85992	0.1489	9	0.15952	T	0.53	.	11.5235	0.50565	0.0:0.8178:0.1822:0.0	.	234	O60548	FOXD2_HUMAN	Y	234	ENSP00000335493:H234Y	ENSP00000335493:H234Y	H	+	1	0	FOXD2	47677094	0.008000	0.16893	0.972000	0.41901	0.831000	0.47069	-0.514000	0.06298	1.902000	0.55061	0.491000	0.48974	CAC		0.746	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		12	12	0	0	0	1	0	12	12				
LRRC7	57554	broad.mit.edu	37	1	70504190	70504190	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70504190G>A	ENST00000035383.5	+	19	2599	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LRRC7_ENST00000310961.5_Missense_Mutation_p.A862T|LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A857T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGGACCGCTTTTCCTTC	0.468																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.A857T(1)	endometrium(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2584-2586)Gct>Act		leucine rich repeat containing 7							80.0	89.0	86.0					1																	70504190		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504190G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2569G>A	1.37:g.70504190G>A	ENSP00000035383:p.Ala857Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000035383.5_Missense_Mutation_p.A857T	p.A862T			Q96NW7	LRRC7_HUMAN			22	3002	+			857					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2584G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437615	0.83885	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.56275	0.47;0.57;1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	T	0.53258	-0.8464	10	0.28530	T	0.3	.	19.3033	0.94151	0.0:0.0:1.0:0.0	.	141;857;857	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	862;857;141;680	ENSP00000309245:A862T;ENSP00000035383:A857T;ENSP00000394867:A141T	ENSP00000035383:A857T	A	+	1	0	LRRC7	70276778	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.447000	0.97595	2.809000	0.96659	0.467000	0.42956	GCT		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	58	0	0	0	1	0	31	58				
RNASEL	6041	broad.mit.edu	37	1	182555276	182555276	+	Silent	SNP	C	C	T	rs141997272	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182555276C>T	ENST00000367559.3	-	2	919	c.666G>A	c.(664-666)acG>acA	p.T222T	RNASEL_ENST00000539397.1_Silent_p.T222T|RNASEL_ENST00000444138.1_Silent_p.T222T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	222					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAGCAGATGCGTAATAGCCT	0.527													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		22460	0.0		0.0	False		,,,				2504	0.0					ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(664-666)acG>acA		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)		C		17,4389	24.3+/-50.5	0,17,2186	86.0	79.0	81.0		666	-9.6	0.0	1	dbSNP_134	81	1,8599		0,1,4299	no	coding-synonymous	RNASEL	NM_021133.3		0,18,6485	TT,TC,CC		0.0116,0.3858,0.1384		222/742	182555276	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555276C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.666G>A	1.37:g.182555276C>T						RNASEL_ENST00000539397.1_Silent_p.T222T|RNASEL_ENST00000444138.1_Silent_p.T222T	p.T222T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	919	-			222					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.666G>A	CCDS1347.1																																																																																				0.527	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		19	30	0	0	0	1	0	19	30				
ZNF408	79797	broad.mit.edu	37	11	46727177	46727177	+	Missense_Mutation	SNP	G	G	T	rs193206095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46727177G>T	ENST00000311764.2	+	5	2157	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGCCTTCTGCTGCTTCTGA	0.642																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1927-1929)Gct>Tct		zinc finger protein 408							46.0	41.0	43.0					11																	46727177		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727177G>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1927G>T	11.37:g.46727177G>T	ENSP00000309606:p.Ala643Ser						p.A643S	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	2157	+			643						Missense_Mutation	SNP	ENST00000311764.2	37	c.1927G>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376073	0.61735	.	.	ENSG00000175213	ENST00000311764	T	0.10382	2.88	4.38	1.34	0.21922	.	0.178051	0.27117	N	0.020843	T	0.06690	0.0171	L	0.34521	1.04	0.09310	N	1	P;B	0.38473	0.633;0.147	B;B	0.33846	0.171;0.035	T	0.33214	-0.9877	10	0.30854	T	0.27	-9.903	7.6901	0.28563	0.0932:0.3185:0.5883:0.0	.	635;643	B4DXY4;Q9H9D4	.;ZN408_HUMAN	S	643	ENSP00000309606:A643S	ENSP00000309606:A643S	A	+	1	0	ZNF408	46683753	.	.	0.045000	0.18777	0.879000	0.50718	.	.	0.546000	0.28920	-0.312000	0.09012	GCT		0.642	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		9	24	1	0	3.86212e-05	1	3.97146e-05	9	24				
P2RY2	5029	broad.mit.edu	37	11	72946266	72946266	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72946266C>T	ENST00000311131.2	+	3	1529	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	P2RY2_ENST00000393596.2_Silent_p.G354G|P2RY2_ENST00000393597.2_Silent_p.G354G	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	354					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATGTGTTGGGCAGCAGTGAGG	0.617																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1060-1062)ggC>ggT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						84.0	88.0	87.0					11																	72946266		2192	4273	6465	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946266C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1062C>T	11.37:g.72946266C>T						P2RY2_ENST00000393597.2_Silent_p.G354G|P2RY2_ENST00000393596.2_Silent_p.G354G	p.G354G	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1529	+			354					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.1062C>T	CCDS8219.1																																																																																				0.617	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		20	46	0	0	0	1	0	20	46				
FAM171A1	221061	broad.mit.edu	37	10	15255001	15255001	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15255001G>A	ENST00000378116.4	-	8	2592	c.2586C>T	c.(2584-2586)gaC>gaT	p.D862D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	862						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CATCATCATCGTCTTCCTCTT	0.582																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2584-2586)gaC>gaT		family with sequence similarity 171, member A1							154.0	153.0	153.0					10																	15255001		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255001G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2586C>T	10.37:g.15255001G>A							p.D862D	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2592	-			862					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2586C>T	CCDS31154.1																																																																																				0.582	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		29	81	0	0	0	1	0	29	81				
RASGRP2	10235	broad.mit.edu	37	11	64504445	64504445	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64504445C>T	ENST00000354024.3	-	9	1127	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	RASGRP2_ENST00000377494.1_Missense_Mutation_p.R292Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R292Q	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	292	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTGCCAGCCGACGCCGGTA	0.632																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(874-876)cGg>cAg		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							36.0	37.0	37.0					11																	64504445		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64504445C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.875G>A	11.37:g.64504445C>T	ENSP00000338864:p.Arg292Gln					RASGRP2_ENST00000394432.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.R292Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R292Q	p.R292Q			Q7LDG7	GRP2_HUMAN			8	1797	-			292			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.875G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909793	0.72983	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.12	4.21	0.49690	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.53561	1.675	0.80722	D	1	B;B	0.31413	0.322;0.322	B;B	0.38842	0.19;0.283	T	0.09292	-1.0681	10	0.33940	T	0.23	-8.6153	11.7021	0.51577	0.0:0.9127:0.0:0.0873	.	292;292	Q7LDG7;A6NDC7	GRP2_HUMAN;.	Q	292	ENSP00000366714:R292Q;ENSP00000377953:R292Q;ENSP00000366717:R292Q;ENSP00000338864:R292Q	ENSP00000338864:R292Q	R	-	2	0	RASGRP2	64261021	0.000000	0.05858	0.998000	0.56505	0.816000	0.46133	0.446000	0.21694	1.301000	0.44836	-0.245000	0.11935	CGG		0.632	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		11	14	0	0	0	1	0	11	14				
FARP1	10160	broad.mit.edu	37	13	99091369	99091369	+	Silent	SNP	C	C	T	rs372343501		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99091369C>T	ENST00000319562.6	+	21	2617	c.2352C>T	c.(2350-2352)gaC>gaT	p.D784D	FARP1_ENST00000376586.2_Silent_p.D815D|FARP1_ENST00000595437.1_Silent_p.D815D	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	784	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTTCAACGACGTCCTGCTAT	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18904	0.0		0.0	False		,,,				2504	0.0					ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2443-2445)gaC>gaT		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C		0,4406		0,0,2203	188.0	178.0	182.0		2352	1.2	1.0	13		182	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FARP1	NM_005766.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		784/1046	99091369	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99091369C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2352C>T	13.37:g.99091369C>T						FARP1_ENST00000319562.6_Silent_p.D784D|FARP1_ENST00000595437.1_Silent_p.D815D	p.D815D			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		22	2781	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		784			PH 1.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.2445C>T	CCDS9487.1																																																																																				0.572	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		37	61	0	0	0	1	0	37	61				
AXL	558	broad.mit.edu	37	19	41737137	41737137	+	Silent	SNP	G	G	A	rs142452494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41737137G>A	ENST00000301178.4	+	6	907	c.717G>A	c.(715-717)acG>acA	p.T239T	AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.T239T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	239	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T239T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCCAACCCACGGAGCTGGAGG	0.612																																						ENST00000301178.4																			1	Substitution - coding silent(1)	p.T239T(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(715-717)acG>acA		AXL receptor tyrosine kinase		G	,	0,4406		0,0,2203	62.0	59.0	60.0		717,717	-9.4	0.7	19	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AXL	NM_001699.4,NM_021913.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	239/886,239/895	41737137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41737137G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.717G>A	19.37:g.41737137G>A						AXL_ENST00000593513.1_5'UTR|AXL_ENST00000359092.3_Silent_p.T239T	p.T239T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			6	907	+			239			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.717G>A	CCDS12575.1																																																																																				0.612	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			11	18	0	0	0	1	0	11	18				
PIWIL2	55124	broad.mit.edu	37	8	22137041	22137041	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22137041G>T	ENST00000454009.2	+	2	651	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G48C|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G48C	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	48					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGCAGGCAGAGGCCATGTATT	0.577																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(142-144)Ggc>Tgc		piwi-like RNA-mediated gene silencing 2							94.0	94.0	94.0					8																	22137041		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22137041G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.142G>T	8.37:g.22137041G>T	ENSP00000406956:p.Gly48Cys					PIWIL2_ENST00000521356.1_Missense_Mutation_p.G48C|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G48C	p.G48C	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	2	290	+			48					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.142G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137172	0.56936	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.06218	3.37;3.33;3.37	5.93	5.07	0.68467	.	0.257841	0.31566	N	0.007423	T	0.12902	0.0313	L	0.27053	0.805	0.44155	D	0.996955	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.03139	-1.1068	10	0.72032	D	0.01	-10.768	11.0594	0.47938	0.0848:0.0:0.9152:0.0	.	48;48	E7ECA4;Q8TC59	.;PIWL2_HUMAN	C	48	ENSP00000349208:G48C;ENSP00000428267:G48C;ENSP00000406956:G48C	ENSP00000349208:G48C	G	+	1	0	PIWIL2	22192986	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	4.489000	0.60309	1.521000	0.48983	-0.136000	0.14681	GGC		0.577	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			5	62	1	0	0.000602214	1	0.000612743	5	62				
TNXB	7148	broad.mit.edu	37	6	32065948	32065948	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32065948A>T	ENST00000479795.1	-	2	168	c.28T>A	c.(28-30)Tcc>Acc	p.S10T	TNXB_ENST00000375247.2_Missense_Mutation_p.S10T|TNXB_ENST00000375244.3_Missense_Mutation_p.S10T			P22105	TENX_HUMAN	tenascin XB	10					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCAGGCTGGAGGTTAGAGCA	0.587																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(28-30)Tcc>Acc		tenascin XB							21.0	23.0	23.0					6																	32065948		1957	4059	6016	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32065948A>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.28T>A	6.37:g.32065948A>T	ENSP00000418248:p.Ser10Thr					TNXB_ENST00000479795.1_Missense_Mutation_p.S10T|TNXB_ENST00000375247.2_Missense_Mutation_p.S10T	p.S10T			P22105	TENX_HUMAN			2	229	-			10					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.28T>A		.	.	.	.	.	.	.	.	.	.	A	11.36	1.616175	0.28801	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.92699	0.61;0.44;-3.09	5.3	-2.33	0.06724	.	0.920575	0.09036	N	0.857951	T	0.75824	0.3902	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.63537	-0.6615	10	0.87932	D	0	.	0.8594	0.01190	0.2762:0.3351:0.2248:0.1639	.	10	P22105-3	.	T	10	ENSP00000364393:S10T;ENSP00000364396:S10T;ENSP00000418248:S10T	ENSP00000364393:S10T	S	-	1	0	TNXB	32173926	0.004000	0.15560	0.000000	0.03702	0.504000	0.33889	-0.143000	0.10296	-0.300000	0.08895	0.454000	0.30748	TCC		0.587	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		7	16	0	0	0	1	0	7	16				
SPESP1	246777	broad.mit.edu	37	15	69223001	69223001	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69223001C>A	ENST00000310673.3	+	1	163	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000455873.3_5'UTR|NOX5_ENST00000448182.3_5'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	3					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTATGAAGCCCTTAGTCCTTC	0.627																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(7-9)ccC>ccA		sperm equatorial segment protein 1							425.0	311.0	349.0					15																	69223001		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69223001C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.9C>A	15.37:g.69223001C>A						RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000448182.3_5'UTR|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000455873.3_5'UTR	p.P3P	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			1	163	+			3					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.9C>A	CCDS10230.1																																																																																				0.627	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		59	99	1	0	2.53126e-37	1	2.84264e-37	59	99				
OR51B2	79345	broad.mit.edu	37	11	5345138	5345138	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5345138A>G	ENST00000328813.2	-	1	444	c.390T>C	c.(388-390)taT>taC	p.Y130Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATGGAAGCATATCTCAAAG	0.423																																						ENST00000328813.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(388-390)taT>taC		olfactory receptor, family 51, subfamily B, member 2							104.0	96.0	98.0					11																	5345138		2201	4297	6498	SO:0001819	synonymous_variant	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345138A>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.390T>C	11.37:g.5345138A>G						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.Y130Y	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	444	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	130					Q96RD4	Silent	SNP	ENST00000328813.2	37	c.390T>C	CCDS31377.1																																																																																				0.423	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		33	51	0	0	0	1	0	33	51				
TSSK1B	83942	broad.mit.edu	37	5	112769553	112769553	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112769553G>A	ENST00000390666.3	-	1	1175	c.984C>T	c.(982-984)ccC>ccT	p.P328P	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	328					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCCCCTCGGGTTTTGTCT	0.612																																						ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(982-984)ccC>ccT		testis-specific serine kinase 1B							45.0	51.0	49.0					5																	112769553		2000	4175	6175	SO:0001819	synonymous_variant	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112769553G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.984C>T	5.37:g.112769553G>A						CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.P328P	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	1175	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	328					B2R8D9	Silent	SNP	ENST00000390666.3	37	c.984C>T	CCDS4112.1																																																																																				0.612	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		8	18	0	0	0	1	0	8	18				
TKT	7086	broad.mit.edu	37	3	53274270	53274270	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53274270G>A	ENST00000462138.1	-	4	522	c.434C>T	c.(433-435)gCc>gTc	p.A145V	TKT_ENST00000423516.1_Missense_Mutation_p.A145V|TKT_ENST00000423525.2_Missense_Mutation_p.A145V|TKT_ENST00000296289.6_Missense_Mutation_p.A98V			P29401	TKT_HUMAN	transketolase	145					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GTGTTACCTGGCCTTGTCGAA	0.607																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(433-435)gCc>gTc		transketolase	Thiamine(DB00152)						93.0	85.0	88.0					3																	53274270		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53274270G>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.434C>T	3.37:g.53274270G>A	ENSP00000417773:p.Ala145Val					TKT_ENST00000423525.2_Missense_Mutation_p.A145V|TKT_ENST00000423516.1_Missense_Mutation_p.A145V|TKT_ENST00000296289.6_Missense_Mutation_p.A98V	p.A145V			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	4	522	-		Prostate(884;0.0959)	145					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.434C>T	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140123	0.56936	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.27104	1.69;1.69;2.02;1.69	5.83	5.83	0.93111	Transketolase, N-terminal (1);	0.048173	0.85682	D	0.000000	T	0.33876	0.0878	N	0.12443	0.215	0.80722	D	1	D;D;D	0.69078	0.965;0.996;0.997	P;D;D	0.69824	0.651;0.966;0.933	T	0.14727	-1.0462	10	0.23302	T	0.38	-21.3914	20.1184	0.97949	0.0:0.0:1.0:0.0	.	145;62;145	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	145;145;145;98	ENSP00000417773:A145V;ENSP00000405455:A145V;ENSP00000391481:A145V;ENSP00000296289:A98V	ENSP00000296289:A98V	A	-	2	0	TKT	53249310	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GCC		0.607	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			5	54	0	0	0	1	0	5	54				
PAFAH1B2	5049	broad.mit.edu	37	11	117030703	117030703	+	Silent	SNP	G	G	T	rs200897891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117030703G>T	ENST00000527958.1	+	3	294	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PAFAH1B2_ENST00000529887.2_Silent_p.V45V|PAFAH1B2_ENST00000530272.1_Silent_p.V45V|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Silent_p.V45V	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	45					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TACTGTTCGTGGGAGACTCCA	0.403			T	IGH@	MLCLS																																	ENST00000527958.1				Dom	yes		11	11q23	5049	T	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""			L	IGH@		MLCLS		0				kidney(1)	1						c.(133-135)gtG>gtT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)							240.0	225.0	230.0					11																	117030703		2201	4296	6497	SO:0001819	synonymous_variant	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117030703G>T	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.135G>T	11.37:g.117030703G>T						PAFAH1B2_ENST00000419197.2_Silent_p.V45V|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000530272.1_Silent_p.V45V|PAFAH1B2_ENST00000529887.2_Silent_p.V45V	p.V45V	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	3	294	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	45					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	ENST00000527958.1	37	c.135G>T	CCDS8380.1																																																																																				0.403	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		28	88	1	0	2.85442e-18	1	3.14927e-18	28	88				
GNB2	2783	broad.mit.edu	37	7	100274182	100274182	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100274182T>C	ENST00000303210.4	+	3	564	c.82T>C	c.(82-84)Tca>Cca	p.S28P	GNB2_ENST00000424361.1_5'UTR|GNB2_ENST00000393924.1_Missense_Mutation_p.S28P|GNB2_ENST00000436220.1_5'UTR|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000393926.1_Missense_Mutation_p.S28P	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	28					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				ATGTGGGGACTCAACACTGAC	0.587																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(82-84)Tca>Cca		guanine nucleotide binding protein (G protein), beta polypeptide 2							260.0	143.0	182.0					7																	100274182		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100274182T>C	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.82T>C	7.37:g.100274182T>C	ENSP00000305260:p.Ser28Pro					GNB2_ENST00000424361.1_5'UTR|GNB2_ENST00000393924.1_Missense_Mutation_p.S28P|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000436220.1_5'UTR|GNB2_ENST00000393926.1_Missense_Mutation_p.S28P|GNB2_ENST00000427895.1_Intron	p.S28P	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			3	564	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	28					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.82T>C	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.830186	0.50845	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000393926;ENST00000431068;ENST00000412215;ENST00000393924	T;T;T;T;T;T	0.01335	5.0;5.0;5.0;5.0;5.0;5.0	4.42	3.25	0.37280	WD40 repeat-like-containing domain (1);	0.171896	0.40554	N	0.001073	T	0.01421	0.0046	L	0.40543	1.245	0.45690	D	0.998605	B	0.27700	0.186	B	0.27262	0.078	T	0.60475	-0.7256	10	0.33940	T	0.23	-1.5947	5.0331	0.14421	0.1848:0.0:0.1923:0.6228	.	28	P62879	GBB2_HUMAN	P	28	ENSP00000305260:S28P;ENSP00000399904:S28P;ENSP00000377503:S28P;ENSP00000390077:S28P;ENSP00000413219:S28P;ENSP00000377501:S28P	ENSP00000305260:S28P	S	+	1	0	GNB2	100112118	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.555000	0.45854	0.713000	0.32060	0.459000	0.35465	TCA		0.587	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		26	33	0	0	0	1	0	26	33				
DFNB31	25861	broad.mit.edu	37	9	117188502	117188502	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117188502C>T	ENST00000362057.3	-	4	1323	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	DFNB31_ENST00000265134.6_Silent_p.A2A|DFNB31_ENST00000374059.3_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	385					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCGAGTTCGCCATGGTCT	0.632																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1153-1155)gcG>gcA		deafness, autosomal recessive 31							56.0	56.0	56.0					9																	117188502		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188502C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1155G>A	9.37:g.117188502C>T						DFNB31_ENST00000265134.6_Silent_p.A2A	p.A385A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			4	1323	-			385					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.1155G>A	CCDS6806.1																																																																																				0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		13	22	0	0	0	1	0	13	22				
DST	667	broad.mit.edu	37	6	56417270	56417270	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56417270G>A	ENST00000361203.3	-	57	15694	c.15687C>T	c.(15685-15687)gaC>gaT	p.D5229D	DST_ENST00000244364.6_Silent_p.D2817D|DST_ENST00000446842.2_Silent_p.D4905D|DST_ENST00000370788.2_Silent_p.D3143D|DST_ENST00000421834.2_Silent_p.D3143D|DST_ENST00000370769.4_Silent_p.D5231D|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Silent_p.D5409D			Q03001	DYST_HUMAN	dystonin	5229					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTGGCATTGTCATTGCTTG	0.433																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16225-16227)gaC>gaT		dystonin							69.0	65.0	66.0					6																	56417270		1885	4116	6001	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417270G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15687C>T	6.37:g.56417270G>A						DST_ENST00000370769.4_Silent_p.D5231D|DST_ENST00000370788.2_Silent_p.D3143D|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.D2817D|DST_ENST00000361203.3_Silent_p.D5229D|DST_ENST00000421834.2_Silent_p.D3143D|DST_ENST00000446842.2_Silent_p.D4905D	p.D5409D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16226	-	Lung NSC(77;0.103)		5229					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.16227C>T																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	25	0	0	0	1	0	13	25				
GMIP	51291	broad.mit.edu	37	19	19748817	19748817	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19748817G>A	ENST00000203556.4	-	10	976	c.839C>T	c.(838-840)gCg>gTg	p.A280V	GMIP_ENST00000445806.2_Missense_Mutation_p.A280V|GMIP_ENST00000587238.1_Missense_Mutation_p.A280V|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	280					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTGCCGCGCGTTGGCCTC	0.692																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(838-840)gCg>gTg		GEM interacting protein							39.0	30.0	33.0					19																	19748817		2202	4298	6500	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748817G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.839C>T	19.37:g.19748817G>A	ENSP00000203556:p.Ala280Val					GMIP_ENST00000587238.1_Missense_Mutation_p.A280V|GMIP_ENST00000445806.2_Missense_Mutation_p.A280V	p.A280V	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	976	-			280					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.839C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554317	0.27739	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.46451	0.87;0.87	4.27	1.91	0.25777	.	1.082430	0.07276	N	0.869947	T	0.29652	0.0740	L	0.32530	0.975	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.04013	0.001;0.001;0.001	T	0.20405	-1.0276	10	0.30854	T	0.27	-5.4845	6.3037	0.21127	0.3211:0.0:0.6789:0.0	.	280;280;280	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	V	280	ENSP00000203556:A280V;ENSP00000397075:A280V	ENSP00000203556:A280V	A	-	2	0	GMIP	19609817	0.000000	0.05858	0.822000	0.32727	0.873000	0.50193	-0.034000	0.12225	0.778000	0.33520	0.313000	0.20887	GCG		0.692	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		7	4	0	0	0	1	0	7	4				
ZNF664	144348	broad.mit.edu	37	12	124497032	124497032	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124497032C>T	ENST00000539644.1	+	6	2171	c.341C>T	c.(340-342)cCg>cTg	p.P114L	ZNF664_ENST00000337815.4_Missense_Mutation_p.P114L|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.P114L|ZNF664_ENST00000392404.3_Missense_Mutation_p.P114L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GGTGAGAAACCGTATGTCTGT	0.443																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(340-342)cCg>cTg		zinc finger protein 664							72.0	84.0	80.0					12																	124497032		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497032C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.341C>T	12.37:g.124497032C>T	ENSP00000441405:p.Pro114Leu					ZNF664_ENST00000337815.4_Missense_Mutation_p.P114L|ZNF664_ENST00000538932.2_Missense_Mutation_p.P114L|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P114L	p.P114L			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2171	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.341C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363251	0.82353	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	N	0.001186	T	0.37999	0.1024	M	0.76938	2.355	0.58432	D	0.999998	D	0.76494	0.999	P	0.58577	0.841	T	0.32188	-0.9916	10	0.87932	D	0	-28.972	14.9673	0.71204	0.0:1.0:0.0:0.0	.	114	Q8N3J9	ZN664_HUMAN	L	114;114;114;114;52	ENSP00000441405:P114L;ENSP00000376205:P114L;ENSP00000440645:P114L;ENSP00000337320:P114L	ENSP00000337320:P114L	P	+	2	0	ZNF664	123062985	0.997000	0.39634	0.993000	0.49108	0.910000	0.53928	3.778000	0.55371	2.651000	0.90000	0.655000	0.94253	CCG		0.443	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		21	85	0	0	0	1	0	21	85				
FLNC	2318	broad.mit.edu	37	7	128491585	128491585	+	Silent	SNP	C	C	T	rs369449907		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128491585C>T	ENST00000325888.8	+	35	6006	c.5745C>T	c.(5743-5745)acC>acT	p.T1915T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T1882T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1915					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACCTGCACCGTGTCCTATC	0.597																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5743-5745)acC>acT		filamin C, gamma							93.0	110.0	104.0					7																	128491585		2203	4300	6503	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491585C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5745C>T	7.37:g.128491585C>T						RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T1882T	p.T1915T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			35	6006	+			1915					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5745C>T	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			20	29	0	0	0	1	0	20	29				
CD14	929	broad.mit.edu	37	5	140011446	140011446	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140011446C>T	ENST00000302014.6	-	2	1752	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	CD14_ENST00000401743.2_Missense_Mutation_p.A375T	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	375					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTTAGGCAAAGCCCCGG	0.582																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(1123-1125)Gcc>Acc		CD14 molecule							57.0	64.0	62.0					5																	140011446		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011446C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.1123G>A	5.37:g.140011446C>T	ENSP00000304236:p.Ala375Thr					CD14_ENST00000401743.2_Missense_Mutation_p.A375T	p.A375T	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1752	-			375					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.1123G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628369	0.67015	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	T;T	0.33654	1.4;1.4	5.35	1.5	0.22942	.	0.673556	0.12507	N	0.462831	T	0.26666	0.0652	L	0.46157	1.445	0.09310	N	1	B	0.24186	0.099	B	0.21151	0.033	T	0.31971	-0.9924	10	0.72032	D	0.01	.	2.4446	0.04503	0.1539:0.5324:0.1488:0.1649	.	375	P08571	CD14_HUMAN	T	375	ENSP00000304236:A375T;ENSP00000385519:A375T	ENSP00000304236:A375T	A	-	1	0	CD14	139991630	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	0.041000	0.13927	0.160000	0.19432	-0.176000	0.13171	GCC		0.582	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		10	85	0	0	0	1	0	10	85				
THPO	7066	broad.mit.edu	37	3	184090552	184090552	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184090552C>T	ENST00000204615.7	-	6	1025	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	THPO_ENST00000445696.2_Missense_Mutation_p.A267T|THPO_ENST00000421442.2_Missense_Mutation_p.S232N|THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	271					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGTCCGGGGCTCCTAGGGTC	0.562																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(811-813)Gcc>Acc		thrombopoietin							171.0	181.0	178.0					3																	184090552		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090552C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.811G>A	3.37:g.184090552C>T	ENSP00000204615:p.Ala271Thr					THPO_ENST00000445696.2_Missense_Mutation_p.A267T|THPO_ENST00000421442.2_Missense_Mutation_p.S232N|EIF2B5_ENST00000444495.1_Intron	p.A271T	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	1025	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		271					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.811G>A	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.141|8.141	0.785288|0.785288	0.16189|0.16189	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.36878|0.37752	1.23;1.24|1.18	4.35|4.35	2.38|2.38	0.29361|0.29361	Four-helical cytokine, core (1);|.	0.576010|.	0.15759|.	N|.	0.246018|.	T|T	0.23846|0.23846	0.0577|0.0577	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|B	0.14438|0.09022	0.01;0.006|0.002	B;B|B	0.12156|0.08055	0.007;0.003|0.003	T|T	0.15350|0.15350	-1.0440|-1.0440	10|9	0.87932|0.42905	D|T	0|0.14	-21.3297|-21.3297	5.552|5.552	0.17095|0.17095	0.0:0.7404:0.0:0.2596|0.0:0.7404:0.0:0.2596	.|.	267;271|232	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	T|N	271;267;232|232	ENSP00000204615:A271T;ENSP00000410763:A267T|ENSP00000411704:S232N	ENSP00000204615:A271T|ENSP00000411704:S232N	A|S	-|-	1|2	0|0	THPO|THPO	185573246|185573246	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.293000|0.293000	0.27360|0.27360	-0.051000|-0.051000	0.11885|0.11885	1.048000|1.048000	0.40298|0.40298	-0.444000|-0.444000	0.05651|0.05651	GCC|AGC		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		38	77	0	0	0	1	0	38	77				
COMMD8	54951	broad.mit.edu	37	4	47455227	47455227	+	Missense_Mutation	SNP	G	G	A	rs77794579	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47455227G>A	ENST00000381571.4	-	4	447	c.380C>T	c.(379-381)gCa>gTa	p.A127V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	127	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.			A -> L (in Ref. 4; AAH19826). {ECO:0000305}.						large_intestine(2)|lung(5)|prostate(1)	8						ACTGGAAAGTGCAAGCTGTTT	0.299													G|||	8	0.00159744	0.0	0.0	5008	,	,		18391	0.0079		0.0	False		,,,				2504	0.0					ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(379-381)gCa>gTa		COMM domain containing 8		G	VAL/ALA	0,4406		0,0,2203	55.0	54.0	55.0		380	5.1	1.0	4	dbSNP_131	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COMMD8	NM_017845.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	127/184	47455227	1,13005	2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47455227G>A	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.380C>T	4.37:g.47455227G>A	ENSP00000370984:p.Ala127Val						p.A127V	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			4	447	-			127	A -> L (in Ref. 4; AAH19826).		COMM.		Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.380C>T	CCDS3475.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	G	16.93	3.258306	0.59321	0.0	1.16E-4	ENSG00000169019	ENST00000381571	T	0.10477	2.87	5.9	5.06	0.68205	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	L	0.51853	1.615	0.80722	D	1	P	0.39443	0.674	B	0.38842	0.283	T	0.13791	-1.0496	10	0.15066	T	0.55	-23.9892	14.1915	0.65641	0.0728:0.0:0.9272:0.0	.	127	Q9NX08	COMD8_HUMAN	V	127	ENSP00000370984:A127V	ENSP00000370984:A127V	A	-	2	0	COMMD8	47149984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.874000	0.69652	1.496000	0.48567	0.650000	0.86243	GCA		0.299	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		24	28	0	0	0	1	0	24	28				
HOXA3	3200	broad.mit.edu	37	7	27147884	27147884	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27147884G>A	ENST00000396352.4	-	3	1181	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R328C|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	328					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCCGTGTAGCGCTTCTGTGGG	0.726																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(982-984)Cgc>Tgc		homeobox A3							6.0	8.0	7.0					7																	27147884		2050	4012	6062	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147884G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.982C>T	7.37:g.27147884G>A	ENSP00000379640:p.Arg328Cys					HOXA3_ENST00000317201.2_Missense_Mutation_p.R328C|HOXA-AS2_ENST00000518088.1_RNA	p.R328C	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1181	-			328					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.982C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104964	0.37145	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86769	-2.17;-2.17	5.68	4.8	0.61643	.	0.046305	0.85682	D	0.000000	D	0.89842	0.6832	M	0.79123	2.44	0.80722	D	1	D	0.62365	0.991	P	0.50231	0.635	D	0.90827	0.4713	10	0.87932	D	0	.	13.1397	0.59428	0.0:0.0:0.5656:0.4344	.	328	O43365	HXA3_HUMAN	C	328;328;170	ENSP00000379640:R328C;ENSP00000324884:R328C	ENSP00000324884:R328C	R	-	1	0	HOXA3	27114409	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.812000	0.55628	1.395000	0.46643	0.655000	0.94253	CGC		0.726	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			4	3	0	0	0	1	0	4	3				
HIP1	3092	broad.mit.edu	37	7	75186962	75186962	+	Missense_Mutation	SNP	C	C	T	rs201661283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75186962C>T	ENST00000336926.6	-	16	1603	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	HIP1_ENST00000434438.2_Missense_Mutation_p.R526Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	526					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTCACCTTCCGCTGGCCCTG	0.582			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1576-1578)cGg>cAg		huntingtin interacting protein 1		C	GLN/ARG	0,4406		0,0,2203	154.0	149.0	150.0		1577	1.9	1.0	7		150	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HIP1	NM_005338.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	526/1038	75186962	1,13005	2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75186962C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1577G>A	7.37:g.75186962C>T	ENSP00000336747:p.Arg526Gln					HIP1_ENST00000434438.2_Missense_Mutation_p.R526Q	p.R526Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			16	1603	-			526					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1577G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136544	0.37728	0.0	1.16E-4	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14766	2.71;2.48	4.75	1.86	0.25419	.	0.310567	0.32578	N	0.005909	T	0.07007	0.0178	N	0.20685	0.6	0.23758	N	0.996926	B;B	0.19200	0.016;0.034	B;B	0.04013	0.001;0.001	T	0.37454	-0.9705	10	0.20519	T	0.43	-2.7441	6.6102	0.22747	0.1427:0.6994:0.0:0.158	.	526;526	E7ES17;O00291	.;HIP1_HUMAN	Q	526	ENSP00000336747:R526Q;ENSP00000410300:R526Q	ENSP00000336747:R526Q	R	-	2	0	HIP1	75024898	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	0.603000	0.24149	0.408000	0.25621	0.585000	0.79938	CGG		0.582	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		18	96	0	0	0	1	0	18	96				
SYNE1	23345	broad.mit.edu	37	6	152469194	152469194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152469194G>A	ENST00000367255.5	-	137	25563	c.24962C>T	c.(24961-24963)gCt>gTt	p.A8321V	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2845V|SYNE1_ENST00000539504.1_Missense_Mutation_p.A476V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8321V|SYNE1_ENST00000354674.4_Missense_Mutation_p.A476V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7933V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8250V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8321					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGCCAACAGCTCCCCGGAG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(24961-24963)gCt>gTt		spectrin repeat containing, nuclear envelope 1							52.0	55.0	54.0					6																	152469194		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.chr6:152469194G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24962C>T	6.37:g.152469194G>A	ENSP00000356224:p.Ala8321Val	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.A476V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.A476V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2845V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7933V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8250V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8321V	p.A8321V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25563	-		Ovarian(120;0.0955)	8321					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.24962C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505223	0.26949	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.55930	0.58;4.63;1.49;0.54;0.49;0.54;0.7;2.61;1.52;4.56	5.34	4.47	0.54385	.	0.000000	0.53938	D	0.000045	T	0.55545	0.1927	M	0.65320	2	0.43708	D	0.996176	P;P;D;D;D	0.58268	0.714;0.714;0.982;0.97;0.968	B;B;P;P;P	0.59171	0.194;0.194;0.853;0.718;0.772	T	0.60429	-0.7265	10	0.52906	T	0.07	.	14.0109	0.64495	0.0731:0.0:0.9269:0.0	.	8321;8321;8250;8250;523	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	V	8321;476;967;8250;8321;8250;7933;2845;483;478;1243;476	ENSP00000356224:A8321V;ENSP00000441052:A476V;ENSP00000356226:A967V;ENSP00000396024:A8250V;ENSP00000265368:A8321V;ENSP00000390975:A8250V;ENSP00000341887:A7933V;ENSP00000349276:A2845V;ENSP00000356220:A1243V;ENSP00000346701:A476V	ENSP00000265368:A8321V	A	-	2	0	SYNE1	152510887	1.000000	0.71417	0.991000	0.47740	0.006000	0.05464	7.288000	0.78691	1.269000	0.44280	-0.140000	0.14226	GCT		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	38	0	0	0	1	0	30	38				
OLFM1	10439	broad.mit.edu	37	9	137990194	137990194	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137990194C>T	ENST00000371793.3	+	4	770	c.519C>T	c.(517-519)gcC>gcT	p.A173A	OLFM1_ENST00000371796.3_Silent_p.A146A|OLFM1_ENST00000252854.4_Silent_p.A155A	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	173					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGTACAAGGCCGATGCCAAAT	0.453																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(463-465)gcC>gcT		olfactomedin 1							121.0	115.0	117.0					9																	137990194		2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137990194C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.519C>T	9.37:g.137990194C>T						OLFM1_ENST00000371793.3_Silent_p.A173A|OLFM1_ENST00000371796.3_Silent_p.A146A	p.A155A	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	4	652	+		Myeloproliferative disorder(178;0.0333)	173					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.465C>T		.	.	.	.	.	.	.	.	.	.	C	9.721	1.159762	0.21454	.	.	ENSG00000130558	ENST00000545657	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5994	0.91242	0.0:1.0:0.0:0.0	.	.	.	.	X	33	.	.	R	+	1	2	OLFM1	137130015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.827000	0.69300	2.466000	0.83321	0.637000	0.83480	CGA		0.453	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		23	38	0	0	0	1	0	23	38				
SENP1	29843	broad.mit.edu	37	12	48482988	48482988	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48482988C>T	ENST00000004980.5	-	5	699				SENP1_ENST00000549518.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000339976.6_Silent_p.R135R|SENP1_ENST00000448372.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CAGCCATGTGCCTTATCTGCA	0.453																																						ENST00000339976.6																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(403-405)agG>agA		SUMO1/sentrin specific peptidase 1							168.0	159.0	162.0					12																	48482988		876	1991	2867	SO:0001627	intron_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48482988C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.221-245G>A	12.37:g.48482988C>T						SENP1_ENST00000549595.1_Intron|SENP1_ENST00000004980.5_Intron|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Intron	p.R135R			Q9P0U3	SENP1_HUMAN			5	787	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	0			Ser-rich.		A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.405G>A	CCDS44868.2																																																																																				0.453	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		22	51	0	0	0	1	0	22	51				
FREM1	158326	broad.mit.edu	37	9	14808119	14808119	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:14808119G>A	ENST00000380880.3	-	17	3690	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G	FREM1_ENST00000422223.2_Silent_p.G969G|FREM1_ENST00000380881.4_Silent_p.G970G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	969					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGCATCAGGCCAATCTCGC	0.438																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2908-2910)ggC>ggT		FRAS1 related extracellular matrix 1							117.0	113.0	114.0					9																	14808119		2024	4178	6202	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808119G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2907C>T	9.37:g.14808119G>A						FREM1_ENST00000380880.3_Silent_p.G969G|FREM1_ENST00000422223.2_Silent_p.G969G	p.G970G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3725	-			969					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2910C>T	CCDS47952.1																																																																																				0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		17	23	0	0	0	1	0	17	23				
DNAH17	8632	broad.mit.edu	37	17	76567742	76567742	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76567742T>C	ENST00000585328.1	-	4	786	c.662A>G	c.(661-663)cAc>cGc	p.H221R	DNAH17_ENST00000389840.5_Missense_Mutation_p.H221R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	221	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGCAGGGGGTGCAGCCCATC	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(661-663)cAc>cGc		dynein, axonemal, heavy chain 17							69.0	76.0	74.0					17																	76567742		2049	4189	6238	SO:0001583	missense	8632							g.chr17:76567742T>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.662A>G	17.37:g.76567742T>C	ENSP00000465516:p.His221Arg					DNAH17_ENST00000585328.1_Missense_Mutation_p.H221R	p.H221R					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		4	786	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.662A>G		.	.	.	.	.	.	.	.	.	.	T	15.42	2.829094	0.50845	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54866	0.55	5.13	5.13	0.70059	.	.	.	.	.	T	0.64962	0.2646	M	0.71036	2.16	0.35639	D	0.810799	.	.	.	.	.	.	T	0.73244	-0.4044	7	0.38643	T	0.18	.	14.5895	0.68354	0.0:0.0:0.0:1.0	.	.	.	.	R	221	ENSP00000374490:H221R	ENSP00000300671:H221R	H	-	2	0	DNAH17	74079337	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.501000	0.60393	1.922000	0.55676	0.459000	0.35465	CAC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	64	0	0	0	1	0	4	64				
UPP2	151531	broad.mit.edu	37	2	158991382	158991382	+	Missense_Mutation	SNP	C	C	T	rs560916486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158991382C>T	ENST00000005756.4	+	7	1128	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000460456.1_3'UTR|UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000605860.1_Missense_Mutation_p.R369W	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	312					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CATCAGACGGCGGCTTGGACT	0.493																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1105-1107)Cgg>Tgg		uridine phosphorylase 2							140.0	127.0	131.0					2																	158991382		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158991382C>T	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.934C>T	2.37:g.158991382C>T	ENSP00000005756:p.Arg312Trp					UPP2_ENST00000005756.4_Missense_Mutation_p.R312W|UPP2_ENST00000409859.4_Missense_Mutation_p.R369W|UPP2_ENST00000460456.1_3'UTR	p.R369W			O95045	UPP2_HUMAN			10	1151	+			312					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.1105C>T	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082107	0.36758	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.33438	1.41;1.45	5.07	-2.86	0.05717	.	0.487974	0.22845	N	0.054923	T	0.18964	0.0455	L	0.49126	1.545	0.35325	D	0.785097	B	0.15141	0.012	B	0.04013	0.001	T	0.04840	-1.0923	10	0.59425	D	0.04	.	0.6987	0.00904	0.3836:0.2556:0.1252:0.2356	.	312	O95045	UPP2_HUMAN	W	369;312	ENSP00000387230:R369W;ENSP00000005756:R312W	ENSP00000005756:R312W	R	+	1	2	UPP2	158699628	1.000000	0.71417	0.002000	0.10522	0.879000	0.50718	1.767000	0.38501	-0.864000	0.04078	-0.979000	0.02580	CGG		0.493	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		19	38	0	0	0	1	0	19	38				
ANK3	288	broad.mit.edu	37	10	61868695	61868695	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61868695G>A	ENST00000280772.2	-	27	3257	c.3066C>T	c.(3064-3066)tgC>tgT	p.C1022C	ANK3_ENST00000503366.1_Silent_p.C1023C|ANK3_ENST00000373827.2_Silent_p.C1016C|ANK3_ENST00000355288.2_Silent_p.C156C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1022	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTACCAAACGGCAGGTGATTC	0.567																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3064-3066)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							71.0	76.0	74.0					10																	61868695		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61868695G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3066C>T	10.37:g.61868695G>A						ANK3_ENST00000373827.2_Silent_p.C1016C|ANK3_ENST00000503366.1_Silent_p.C1023C|ANK3_ENST00000355288.2_Silent_p.C156C	p.C1022C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			27	3257	-			1022			ZU5.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3066C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541801	0.13250	.	.	ENSG00000151150	ENST00000467420	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	V	47	.	.	A	-	2	0	ANK3	61538701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.122000	0.64697	2.873000	0.98535	0.563000	0.77884	GCC		0.567	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		14	26	0	0	0	1	0	14	26				
RAD50	10111	broad.mit.edu	37	5	131927067	131927067	+	Missense_Mutation	SNP	G	G	A	rs200548021		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131927067G>A	ENST00000265335.6	+	10	1991	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	RAD50_ENST00000378823.3_Missense_Mutation_p.R396H			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	535					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAACAACACGTACCCAAATG	0.378								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1186-1188)cGt>cAt	Homologous recombination	RAD50 homolog (S. cerevisiae)		G	HIS/ARG	0,4406		0,0,2203	111.0	99.0	103.0		1604	5.7	1.0	5		103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAD50	NM_005732.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	535/1313	131927067	1,13005	2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131927067G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1604G>A	5.37:g.131927067G>A	ENSP00000265335:p.Arg535His					RAD50_ENST00000265335.6_Missense_Mutation_p.R535H	p.R396H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	2005	+		all_cancers(142;0.0368)|Breast(839;0.198)	535					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1187G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548997	0.86127	0.0	1.16E-4	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.06687	3.27;3.51	5.7	5.7	0.88788	.	0.056797	0.64402	D	0.000001	T	0.22360	0.0539	M	0.62723	1.935	0.53005	D	0.999965	D	0.89917	1.0	P	0.58873	0.847	T	0.00041	-1.2234	10	0.59425	D	0.04	-6.8286	14.5472	0.68041	0.0:0.0:0.8186:0.1813	.	535	Q92878	RAD50_HUMAN	H	396;535	ENSP00000368100:R396H;ENSP00000265335:R535H	ENSP00000265335:R535H	R	+	2	0	RAD50	131954966	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	5.825000	0.69286	2.683000	0.91414	0.655000	0.94253	CGT		0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		5	32	0	0	0	1	0	5	32				
DST	667	broad.mit.edu	37	6	56716397	56716397	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56716397G>A	ENST00000370754.5	-	4	422	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACGCGTTCCCGGAACTCTACA	0.507											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(421-423)tcC>tcT		dystonin							43.0	41.0	42.0					6																	56716397		1568	3582	5150	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56716397G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.423C>T	6.37:g.56716397G>A			OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1017	RP11-472M19.2_ENST00000426453.1_RNA	p.S141S			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	422	-	Lung NSC(77;0.103)		0			Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000370754.5	37	c.423C>T																																																																																					0.507	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		9	13	0	0	0	1	0	9	13				
LRFN3	79414	broad.mit.edu	37	19	36431691	36431691	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36431691G>A	ENST00000588831.1	+	3	2418	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	LRFN3_ENST00000246529.3_Missense_Mutation_p.R455H			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	455	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCATCCGCATGTACCAG	0.642																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1363-1365)cGc>cAc		leucine rich repeat and fibronectin type III domain containing 3							30.0	27.0	28.0					19																	36431691		2203	4300	6503	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431691G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1364G>A	19.37:g.36431691G>A	ENSP00000466989:p.Arg455His					LRFN3_ENST00000246529.3_Missense_Mutation_p.R455H	p.R455H			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2418	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		455			Fibronectin type-III.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1364G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963360	0.74016	.	.	ENSG00000126243	ENST00000246529	T	0.57752	0.38	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.33457	N	0.004890	T	0.74589	0.3736	M	0.85630	2.765	0.46981	D	0.999271	D	0.89917	1.0	D	0.79784	0.993	T	0.78735	-0.2088	10	0.54805	T	0.06	.	15.3027	0.73966	0.0:0.0:1.0:0.0	.	455	Q9BTN0	LRFN3_HUMAN	H	455	ENSP00000246529:R455H	ENSP00000246529:R455H	R	+	2	0	LRFN3	41123531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.718000	0.74713	2.204000	0.70986	0.591000	0.81541	CGC		0.642	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		9	5	0	0	0	1	0	9	5				
COL11A1	1301	broad.mit.edu	37	1	103364546	103364546	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103364546G>T	ENST00000370096.3	-	55	4403	c.4091C>A	c.(4090-4092)cCt>cAt	p.P1364H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1376H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1364	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCTCCAGGAGGACCCTATAG	0.279																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4126-4128)cCt>cAt		collagen, type XI, alpha 1							41.0	43.0	42.0					1																	103364546		2201	4297	6498	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364546G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4091C>A	1.37:g.103364546G>T	ENSP00000359114:p.Pro1364His					COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1364H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248H	p.P1376H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	55	4444	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1364			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4127C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984368	0.53934	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	6.06	6.06	0.98353	.	0.055157	0.85682	D	0.000000	D	0.99275	0.9747	M	0.87971	2.92	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.945;0.975;0.998;0.945;0.975	D	0.99342	1.0912	10	0.52906	T	0.07	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	1248;1325;1376;1364;584	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1364;1376;1325;584;1248	ENSP00000359114:P1364H;ENSP00000351163:P1376H;ENSP00000302551:P1325H;ENSP00000426533:P1248H	ENSP00000302551:P1325H	P	-	2	0	COL11A1	103137134	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.428000	0.73383	2.880000	0.98712	0.650000	0.86243	CCT		0.279	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	31	1	0	2.61193e-14	1	2.84738e-14	27	31				
PKP1	5317	broad.mit.edu	37	1	201292200	201292200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201292200G>A	ENST00000352845.3	+	10	1626	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*	PKP1_ENST00000367324.3_Nonsense_Mutation_p.W521*|PKP1_ENST00000263946.3_Nonsense_Mutation_p.W542*			Q13835	PKP1_HUMAN	plakophilin 1	542					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCAGCGGCTGGTTGTACCATT	0.577																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1624-1626)tgG>tgA		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							149.0	149.0	149.0					1																	201292200		2203	4300	6503	SO:0001587	stop_gained	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201292200G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1626G>A	1.37:g.201292200G>A	ENSP00000295597:p.Trp542*					PKP1_ENST00000367324.3_Nonsense_Mutation_p.W521*|PKP1_ENST00000352845.3_Nonsense_Mutation_p.W542*	p.W542*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			10	1877	+			542					O00645|Q14CA0|Q15152	Nonsense_Mutation	SNP	ENST00000352845.3	37	c.1626G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672726	0.96754	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	.	.	.	5.19	5.19	0.71726	.	0.127419	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4921	13.9742	0.64262	0.0:0.0:0.8483:0.1517	.	.	.	.	X	521;542;542	.	ENSP00000263946:W542X	W	+	3	0	PKP1	199558823	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.285000	0.78660	2.571000	0.86741	0.591000	0.81541	TGG		0.577	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		47	55	0	0	0	1	0	47	55				
KDM6A	7403	broad.mit.edu	37	X	44937657	44937657	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44937657C>T	ENST00000377967.4	+	19	2886	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C	KDM6A_ENST00000382899.4_Missense_Mutation_p.R956C|KDM6A_ENST00000536777.1_Missense_Mutation_p.R904C|KDM6A_ENST00000543216.1_Missense_Mutation_p.R870C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	949	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGAAAATAAACGTGATGCTTT	0.323			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2845-2847)Cgt>Tgt		lysine (K)-specific demethylase 6A							95.0	83.0	87.0					X																	44937657		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44937657C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2845C>T	X.37:g.44937657C>T	ENSP00000367203:p.Arg949Cys					KDM6A_ENST00000543216.1_Missense_Mutation_p.R870C|KDM6A_ENST00000536777.1_Missense_Mutation_p.R904C|KDM6A_ENST00000382899.4_Missense_Mutation_p.R956C	p.R949C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			19	2886	+			949					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2845C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.592789|3.592789	0.66219|0.66219	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.79940|.	-1.32;-1.32;-1.32;-1.32|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74680|0.74680	0.3748|0.3748	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.99;0.992;0.992;0.982;0.97;0.999|.	T|T	0.76138|0.76138	-0.3069|-0.3069	10|5	0.87932|.	D|.	0|.	-13.367|-13.367	13.2666|13.2666	0.60137|0.60137	0.1584:0.8416:0.0:0.0|0.1584:0.8416:0.0:0.0	.|.	588;956;904;1001;915;949|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	C|M	646;949;904;956;870|546;591	ENSP00000367203:R949C;ENSP00000437405:R904C;ENSP00000372355:R956C;ENSP00000443078:R870C|.	ENSP00000334340:R646C|.	R|T	+|+	1|2	0|0	KDM6A|KDM6A	44822601|44822601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.652000|3.652000	0.54439|0.54439	2.254000|2.254000	0.74563|0.74563	0.544000|0.544000	0.68410|0.68410	CGT|ACG		0.323	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		6	32	0	0	0	1	0	6	32				
SAMD9L	219285	broad.mit.edu	37	7	92763742	92763742	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92763742G>A	ENST00000318238.4	-	5	2759	c.1543C>T	c.(1543-1545)Cat>Tat	p.H515Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.H515Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H515Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	515					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCATAAATGTGGTTCTAGA	0.373																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1543-1545)Cat>Tat		sterile alpha motif domain containing 9-like							76.0	81.0	79.0					7																	92763742		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763742G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1543C>T	7.37:g.92763742G>A	ENSP00000326247:p.His515Tyr					SAMD9L_ENST00000437805.1_Missense_Mutation_p.H515Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H515Y	p.H515Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2759	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		515					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1543C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226061	0.01518	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.09723	2.95;2.95;2.95	4.59	1.58	0.23477	.	0.598969	0.15708	N	0.248576	T	0.06735	0.0172	L	0.51422	1.61	0.09310	N	1	P	0.42296	0.775	B	0.37198	0.243	T	0.13442	-1.0509	10	0.07644	T	0.81	-15.1448	3.1187	0.06383	0.0905:0.1293:0.3156:0.4646	.	515	Q8IVG5	SAM9L_HUMAN	Y	515	ENSP00000326247:H515Y;ENSP00000405760:H515Y;ENSP00000408796:H515Y	ENSP00000326247:H515Y	H	-	1	0	SAMD9L	92601678	0.000000	0.05858	0.413000	0.26509	0.409000	0.31022	-0.369000	0.07533	1.123000	0.41961	0.460000	0.39030	CAT		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		40	41	0	0	0	1	0	40	41				
EPX	8288	broad.mit.edu	37	17	56277092	56277092	+	Missense_Mutation	SNP	G	G	A	rs138562045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56277092G>A	ENST00000225371.5	+	9	1584	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	492					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCGGGCCTCCGCACCCAACTC	0.602																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1474-1476)Gca>Aca		eosinophil peroxidase		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	99.0	80.0	87.0		1474	5.8	0.6	17	dbSNP_134	87	1,8599		0,1,4299	no	missense	EPX	NM_000502.4	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	492/716	56277092	2,13004	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277092G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1474G>A	17.37:g.56277092G>A	ENSP00000225371:p.Ala492Thr						p.A492T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			9	1584	+			492					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1474G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552684	0.27739	2.27E-4	1.16E-4	ENSG00000121053	ENST00000225371	T	0.69040	-0.37	5.81	5.81	0.92471	.	0.453373	0.27258	N	0.020198	T	0.46889	0.1416	N	0.26092	0.79	0.09310	N	1	P	0.40180	0.705	B	0.31390	0.129	T	0.43458	-0.9390	10	0.21540	T	0.41	-2.0416	10.9241	0.47182	0.0844:0.0:0.9156:0.0	.	492	P11678	PERE_HUMAN	T	492	ENSP00000225371:A492T	ENSP00000225371:A492T	A	+	1	0	EPX	53632091	0.000000	0.05858	0.633000	0.29310	0.429000	0.31625	0.545000	0.23268	2.756000	0.94617	0.655000	0.94253	GCA		0.602	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		18	17	0	0	0	1	0	18	17				
C17orf70	80233	broad.mit.edu	37	17	79514341	79514341	+	Silent	SNP	G	G	A	rs567185509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79514341G>A	ENST00000327787.8	-	5	1813	c.1767C>T	c.(1765-1767)aaC>aaT	p.N589N	C17orf70_ENST00000537152.1_Silent_p.N438N|C17orf70_ENST00000425898.2_Silent_p.N238N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	589					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAGCCCGCCGTTCTCACCAG	0.697																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1312-1314)aaC>aaT		chromosome 17 open reading frame 70							32.0	33.0	33.0					17																	79514341		2199	4288	6487	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514341G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1767C>T	17.37:g.79514341G>A						C17orf70_ENST00000327787.8_Silent_p.N589N|C17orf70_ENST00000425898.2_Silent_p.N238N	p.N438N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1839	-	all_neural(118;0.0878)|Melanoma(429;0.242)		589					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1314C>T	CCDS32765.2																																																																																				0.697	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		18	23	0	0	0	1	0	18	23				
ZNF134	7693	broad.mit.edu	37	19	58131867	58131867	+	Missense_Mutation	SNP	C	C	T	rs80178068		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58131867C>T	ENST00000396161.5	+	3	690	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAACCTCATCCGTCAGAGAAG	0.463																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(379-381)cCg>cTg		zinc finger protein 134							57.0	56.0	56.0					19																	58131867		1973	4168	6141	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131867C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.380C>T	19.37:g.58131867C>T	ENSP00000379464:p.Pro127Leu						p.P127L	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	690	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	127					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.380C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291200	0.05568	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.07444	3.19	3.42	0.0211	0.14127	.	.	.	.	.	T	0.03390	0.0098	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	9	0.62326	D	0.03	.	7.6013	0.28077	0.0:0.594:0.0:0.406	.	127	P52741	ZN134_HUMAN	L	194;47;127	ENSP00000379464:P127L	ENSP00000379464:P127L	P	+	2	0	ZNF134	62823679	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.097000	0.15168	-0.044000	0.13491	-0.312000	0.09012	CCG		0.463	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		13	12	0	0	0	1	0	13	12				
CRMP1	1400	broad.mit.edu	37	4	5862915	5862915	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5862915C>T	ENST00000397890.2	-	3	365	c.151G>A	c.(151-153)Gtt>Att	p.V51I	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.V165I|CRMP1_ENST00000512574.1_Missense_Mutation_p.V49I	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	51					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCACCAGGAACGATTAAGTTC	0.502																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(493-495)Gtt>Att		collapsin response mediator protein 1							93.0	89.0	91.0					4																	5862915		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862915C>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.151G>A	4.37:g.5862915C>T	ENSP00000380987:p.Val51Ile					CRMP1_ENST00000512574.1_Missense_Mutation_p.V49I|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.V51I	p.V165I	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	581	-			51					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.493G>A	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768095	0.31320	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.85773	-2.03;-1.99;-1.99	4.37	4.37	0.52481	Metal-dependent hydrolase, composite domain (1);	0.073770	0.53938	D	0.000056	T	0.79673	0.4486	L	0.45422	1.42	0.50171	D	0.999856	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.06405	0.002;0.0;0.001	T	0.74487	-0.3649	10	0.19590	T	0.45	-17.5535	16.0708	0.80928	0.0:1.0:0.0:0.0	.	165;49;51	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	I	165;51;51;49	ENSP00000321606:V165I;ENSP00000380987:V51I;ENSP00000425742:V49I	ENSP00000321606:V165I	V	-	1	0	CRMP1	5913816	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.337000	0.59310	2.251000	0.74343	0.561000	0.74099	GTT		0.502	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		54	86	0	0	0	1	0	54	86				
AGO2	27161	broad.mit.edu	37	8	141572638	141572638	+	Silent	SNP	G	G	A	rs149363419	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141572638G>A	ENST00000220592.5	-	4	544	c.432C>T	c.(430-432)caC>caT	p.H144H	AGO2_ENST00000519980.1_Silent_p.H144H	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	144					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AAAGTGCATCGTGTAACGCCT	0.607													G|||	14	0.00279553	0.0106	0.0	5008	,	,		19813	0.0		0.0	False		,,,				2504	0.0					ENST00000220592.5																			0											c.(430-432)caC>caT		argonaute RISC catalytic component 2		G	,	27,4379	33.5+/-64.1	0,27,2176	173.0	139.0	150.0		432,432	-2.7	0.6	8	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EIF2C2	NM_001164623.1,NM_012154.3	,	0,27,6476	AA,AG,GG		0.0,0.6128,0.2076	,	144/826,144/860	141572638	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141572638G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.432C>T	8.37:g.141572638G>A						AGO2_ENST00000519980.1_Silent_p.H144H	p.H144H	NM_012154.3	NP_036286.2					4	544	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.432C>T	CCDS6380.1																																																																																				0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			26	63	0	0	0	1	0	26	63				
HCN1	348980	broad.mit.edu	37	5	45262080	45262080	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:45262080G>T	ENST00000303230.4	-	8	2673	c.2616C>A	c.(2614-2616)tcC>tcA	p.S872S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	872					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAGACTGAGGAAGATTCTC	0.507																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2614-2616)tcC>tcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							81.0	96.0	91.0					5																	45262080		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262080G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2616C>A	5.37:g.45262080G>T							p.S872S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2673	-			872						Silent	SNP	ENST00000303230.4	37	c.2616C>A	CCDS3952.1																																																																																				0.507	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		30	58	1	0	3.73148e-12	1	4.03096e-12	30	58				
WDR81	124997	broad.mit.edu	37	17	1637344	1637344	+	Silent	SNP	C	C	T	rs146436550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1637344C>T	ENST00000409644.1	+	7	5013	c.5013C>T	c.(5011-5013)acC>acT	p.T1671T	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.T310T|WDR81_ENST00000545662.1_Silent_p.T302T|WDR81_ENST00000309182.5_Silent_p.T620T|WDR81_ENST00000437219.2_Silent_p.T468T|WDR81_ENST00000419248.1_Silent_p.T444T	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1671					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGATCGTACCGTGCGCCTCT	0.667																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5011-5013)acC>acT		WD repeat domain 81		T	,,,	0,4406		0,0,2203	54.0	51.0	52.0		1404,5013,1332,1860	-10.5	0.1	17	dbSNP_134	52	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,	468/739,1671/1942,444/715,620/891	1637344	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	124997							g.chr17:1637344C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5013C>T	17.37:g.1637344C>T						RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.T310T|WDR81_ENST00000545662.1_Silent_p.T302T|WDR81_ENST00000419248.1_Silent_p.T444T|WDR81_ENST00000437219.2_Silent_p.T468T|WDR81_ENST00000309182.5_Silent_p.T620T	p.T1671T	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	5013	+			444					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.5013C>T	CCDS54062.1																																																																																				0.667	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		24	24	0	0	0	1	0	24	24				
EPHA10	284656	broad.mit.edu	37	1	38188716	38188716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38188716C>A	ENST00000373048.4	-	10	1956	c.1957G>T	c.(1957-1959)Gga>Tga	p.G653*	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.G653*|EPHA10_ENST00000330210.7_Nonsense_Mutation_p.G148*|EPHA10_ENST00000540011.1_Nonsense_Mutation_p.G148*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTTGCCTCCTCCAAGGCTC	0.617																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1957-1959)Gga>Tga		EPH receptor A10							49.0	55.0	53.0					1																	38188716		2121	4209	6330	SO:0001587	stop_gained	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38188716C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1957G>T	1.37:g.38188716C>A	ENSP00000362139:p.Gly653*					EPHA10_ENST00000540011.1_Nonsense_Mutation_p.G148*|EPHA10_ENST00000330210.7_Nonsense_Mutation_p.G148*|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.G653*|EPHA10_ENST00000446149.2_5'UTR	p.G653*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			10	1956	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	653			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	c.1957G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643185	0.29246	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	.	.	.	3.43	0.16	0.14972	.	1.538920	0.04523	N	0.384888	.	.	.	.	.	.	0.54753	A	0.999989	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	2.0314	0.03530	0.2531:0.3529:0.0:0.394	.	.	.	.	X	148;653;148;653	.	ENSP00000330379:G148X	G	-	1	0	EPHA10	37961303	0.298000	0.24417	0.998000	0.56505	0.086000	0.17979	-0.186000	0.09670	0.198000	0.20407	0.313000	0.20887	GGA		0.617	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		14	27	1	0	7.93312e-07	1	8.27737e-07	14	27				
ANKH	56172	broad.mit.edu	37	5	14769120	14769120	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14769120C>T	ENST00000284268.6	-	2	607	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	93					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGGCCCCTGCCACCACCATA	0.512																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(277-279)Gca>Aca		ANKH inorganic pyrophosphate transport regulator							87.0	83.0	84.0					5																	14769120		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14769120C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.277G>A	5.37:g.14769120C>T	ENSP00000284268:p.Ala93Thr						p.A93T	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			2	607	-			93					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.277G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856550	0.91355	.	.	ENSG00000154122	ENST00000284268	D	0.95885	-3.84	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97320	0.9943	10	0.56958	D	0.05	-31.3956	18.4196	0.90586	0.0:1.0:0.0:0.0	.	93	Q9HCJ1	ANKH_HUMAN	T	93	ENSP00000284268:A93T	ENSP00000284268:A93T	A	-	1	0	ANKH	14822120	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	GCA		0.512	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		14	24	0	0	0	1	0	14	24				
HCN3	57657	broad.mit.edu	37	1	155254437	155254437	+	Nonsense_Mutation	SNP	G	G	A	rs199623311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155254437G>A	ENST00000368358.3	+	4	986	c.978G>A	c.(976-978)tgG>tgA	p.W326*	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	326					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGACGTCTGGCTCACCATGC	0.607																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(976-978)tgG>tgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							113.0	82.0	92.0					1																	155254437		2203	4300	6503	SO:0001587	stop_gained	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254437G>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.978G>A	1.37:g.155254437G>A	ENSP00000357342:p.Trp326*					HCN3_ENST00000496230.1_3'UTR	p.W326*	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	986	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		326					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Nonsense_Mutation	SNP	ENST00000368358.3	37	c.978G>A	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601609	0.96614	.	.	ENSG00000143630	ENST00000368358	.	.	.	5.18	5.18	0.71444	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	16.5568	0.84487	0.0:0.0:1.0:0.0	.	.	.	.	X	326	.	ENSP00000357342:W326X	W	+	3	0	HCN3	153521061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.810000	0.99221	2.573000	0.86826	0.552000	0.68991	TGG		0.607	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		27	24	0	0	0	1	0	27	24				
NRDE2	55051	broad.mit.edu	37	14	90767697	90767697	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90767697G>A	ENST00000354366.3	-	7	1663	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	NRDE2_ENST00000357904.3_Silent_p.C246C	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	477																	GCAGAAAGTGGCACTGCTGAA	0.512																																						ENST00000354366.3																			0											c.(1429-1431)tgC>tgT		NRDE-2, necessary for RNA interference, domain containing							57.0	52.0	54.0					14																	90767697		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90767697G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1431C>T	14.37:g.90767697G>A						NRDE2_ENST00000357904.3_Silent_p.C246C	p.C477C	NM_017970.3	NP_060440.2					7	1663	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.1431C>T	CCDS9890.1																																																																																				0.512	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		12	5	0	0	0	1	0	12	5				
GON4L	54856	broad.mit.edu	37	1	155744931	155744931	+	Missense_Mutation	SNP	C	C	T	rs367979838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155744931C>T	ENST00000368331.1	-	17	2260	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	GON4L_ENST00000437809.1_Missense_Mutation_p.A738T|GON4L_ENST00000271883.5_Missense_Mutation_p.A738T|GON4L_ENST00000361040.5_Missense_Mutation_p.A738T|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	738					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGTGAAGGGCGATGGAGCTT	0.453																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2212-2214)Gcc>Acc		gon-4-like (C. elegans)		C	THR/ALA,THR/ALA	0,4406		0,0,2203	86.0	87.0	86.0		2212,2212	2.7	0.5	1		86	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	GON4L	NM_032292.4,NM_001037533.1	58,58	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	738/1530,738/2241	155744931	1,13001	2203	4298	6501	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155744931C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2212G>A	1.37:g.155744931C>T	ENSP00000357315:p.Ala738Thr					GON4L_ENST00000271883.5_Missense_Mutation_p.A738T|GON4L_ENST00000368331.1_Missense_Mutation_p.A738T|GON4L_ENST00000361040.5_Missense_Mutation_p.A738T|GON4L_ENST00000471341.1_5'UTR	p.A738T			Q3T8J9	GON4L_HUMAN			17	2334	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		738					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	10.97	1.500256	0.26861	0.0	1.16E-4	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.12039	2.92;2.92;2.92;2.72	4.57	2.68	0.31781	.	0.339237	0.27677	N	0.018309	T	0.02649	0.0080	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.30326	0.005;0.026;0.276;0.056;0.093	B;B;B;B;B	0.19148	0.006;0.009;0.024;0.009;0.02	T	0.41538	-0.9503	10	0.30854	T	0.27	.	1.8164	0.03101	0.1621:0.4975:0.1576:0.1827	.	518;738;738;738;738	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	T	738;738;738;738;738;188	ENSP00000396117:A738T;ENSP00000357315:A738T;ENSP00000271883:A738T;ENSP00000354322:A738T	ENSP00000271883:A738T	A	-	1	0	GON4L	154011555	0.403000	0.25319	0.455000	0.27031	0.994000	0.84299	0.956000	0.29202	0.546000	0.28920	0.484000	0.47621	GCC		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		12	28	0	0	0	1	0	12	28				
DOPEY1	23033	broad.mit.edu	37	6	83830445	83830445	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83830445A>G	ENST00000349129.2	+	10	1294	c.1034A>G	c.(1033-1035)aAc>aGc	p.N345S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.N336S|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.N336S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	345					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGAAGAGAACACTCTAATG	0.363																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(1033-1035)aAc>aGc		dopey family member 1							136.0	129.0	131.0					6																	83830445		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83830445A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1034A>G	6.37:g.83830445A>G	ENSP00000195654:p.Asn345Ser					DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.N336S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.N336S	p.N345S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	10	1294	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	345					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1034A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	6.110	0.388633	0.11581	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.20738	2.05;2.05;2.07	5.74	3.88	0.44766	.	0.095252	0.64402	N	0.000001	T	0.01558	0.0050	N	0.00677	-1.265	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43426	-0.9392	10	0.06236	T	0.91	-0.0981	11.5182	0.50536	0.0682:0.1255:0.8063:0.0	.	242;336;345	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	345;336;336	ENSP00000195654:N345S;ENSP00000237163:N336S;ENSP00000358754:N336S	ENSP00000237163:N336S	N	+	2	0	DOPEY1	83887164	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.510000	0.73729	0.742000	0.32697	-0.321000	0.08615	AAC		0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		11	28	0	0	0	1	0	11	28				
AHNAK	79026	broad.mit.edu	37	11	62290971	62290971	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62290971C>T	ENST00000378024.4	-	5	11192	c.10918G>A	c.(10918-10920)Gtt>Att	p.V3640I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3640					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGAACATCAACGTCTACATTG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10918-10920)Gtt>Att		AHNAK nucleoprotein							193.0	200.0	197.0					11																	62290971		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290971C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10918G>A	11.37:g.62290971C>T	ENSP00000367263:p.Val3640Ile					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V3640I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11192	-		Melanoma(852;0.155)	3640					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10918G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.474510	0.00167	.	.	ENSG00000124942	ENST00000378024	T	0.00669	5.9	4.19	-1.1	0.09872	.	0.232564	0.35615	N	0.003089	T	0.00300	0.0009	N	0.01668	-0.77	0.21020	N	0.999808	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	10	0.02654	T	1	-8.8246	6.2628	0.20910	0.0:0.2931:0.1236:0.5833	.	3640	Q09666	AHNK_HUMAN	I	3640	ENSP00000367263:V3640I	ENSP00000367263:V3640I	V	-	1	0	AHNAK	62047547	0.000000	0.05858	0.694000	0.30210	0.013000	0.08279	-1.625000	0.02036	-0.077000	0.12752	-1.568000	0.00874	GTT		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		91	134	0	0	0	1	0	91	134				
SBF1	6305	broad.mit.edu	37	22	50895021	50895021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50895021G>A	ENST00000390679.3	-	29	4092	c.3908C>T	c.(3907-3909)gCg>gTg	p.A1303V	SBF1_ENST00000476293.1_5'UTR|SBF1_ENST00000380817.3_Missense_Mutation_p.A1329V|SBF1_ENST00000348911.6_Missense_Mutation_p.A1304V			O95248	MTMR5_HUMAN	SET binding factor 1	1303	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGGCCAGCGCGTCTCTGCC	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3985-3987)gCg>gTg		SET binding factor 1							7.0	10.0	9.0					22																	50895021		1977	4128	6105	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50895021G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3908C>T	22.37:g.50895021G>A	ENSP00000375097:p.Ala1303Val					SBF1_ENST00000476293.1_5'UTR|SBF1_ENST00000348911.6_Missense_Mutation_p.A1304V|SBF1_ENST00000390679.3_Missense_Mutation_p.A1303V	p.A1329V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	30	4169	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1303			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3986C>T		.	.	.	.	.	.	.	.	.	.	G	5.124	0.208469	0.09757	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86627	-2.12;-2.15;-2.15	4.38	-0.616	0.11583	Myotubularin phosphatase domain (1);	1.524220	0.03968	N	0.291139	T	0.66187	0.2764	N	0.01188	-0.97	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.56721	-0.7932	10	0.29301	T	0.29	.	4.7211	0.12918	0.5789:0.1529:0.2682:0.0	.	1303;1329	O95248;O95248-4	MTMR5_HUMAN;.	V	1329;1304;1339;1303	ENSP00000370196:A1329V;ENSP00000252027:A1304V;ENSP00000375097:A1303V	ENSP00000336522:A1339V	A	-	2	0	SBF1	49241887	0.154000	0.22792	0.003000	0.11579	0.066000	0.16364	0.413000	0.21148	-0.271000	0.09272	-0.379000	0.06801	GCG		0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	3	0	0	0	1	0	5	3				
IRGC	56269	broad.mit.edu	37	19	44223605	44223605	+	Missense_Mutation	SNP	C	C	T	rs184064504		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44223605C>T	ENST00000244314.5	+	2	1094	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	299						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCACTCACTGCGTGGCTACCA	0.662																																					Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(895-897)Cgt>Tgt		immunity-related GTPase family, cinema							68.0	65.0	66.0					19																	44223605		2203	4299	6502	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223605C>T	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.895C>T	19.37:g.44223605C>T	ENSP00000244314:p.Arg299Cys						p.R299C	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	1094	+		Prostate(69;0.0435)	299					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.895C>T	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037789	0.54896	.	.	ENSG00000124449	ENST00000244314	T	0.23950	1.88	4.79	2.3	0.28687	.	0.415828	0.21894	N	0.067548	T	0.31451	0.0797	L	0.34521	1.04	0.43426	D	0.995586	D	0.76494	0.999	P	0.62649	0.905	T	0.04825	-1.0924	10	0.66056	D	0.02	.	7.9247	0.29867	0.16:0.54:0.3:0.0	.	299	Q6NXR0	IIGP5_HUMAN	C	299	ENSP00000244314:R299C	ENSP00000244314:R299C	R	+	1	0	IRGC	48915445	0.000000	0.05858	1.000000	0.80357	0.722000	0.41435	-0.265000	0.08644	2.194000	0.70268	0.655000	0.94253	CGT		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		26	46	0	0	0	1	0	26	46				
PCDHGB1	56104	broad.mit.edu	37	5	140731333	140731333	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731333C>T	ENST00000523390.1	+	1	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	502	Cadherin 5. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACGTGTCCGTGAGCCCGC	0.662																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1504-1506)tcC>tcT									38.0	43.0	42.0					5																	140731333		1988	4167	6155	SO:0001819	synonymous_variant	0							g.chr5:140731333C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1506C>T	5.37:g.140731333C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S502S	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1506C>T	CCDS54923.1																																																																																				0.662	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		23	46	0	0	0	1	0	23	46				
CEP290	80184	broad.mit.edu	37	12	88479887	88479887	+	Missense_Mutation	SNP	C	C	T	rs375111436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:88479887C>T	ENST00000552810.1	-	34	4709	c.4366G>A	c.(4366-4368)Gct>Act	p.A1456T	CEP290_ENST00000547691.2_Missense_Mutation_p.A516T|CEP290_ENST00000309041.7_Missense_Mutation_p.A1458T|CEP290_ENST00000397838.3_Missense_Mutation_p.A516T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1456					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCCTTAGAGCGATCTCAAGT	0.348																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(4366-4368)Gct>Act		centrosomal protein 290kDa							128.0	111.0	116.0					12																	88479887		1808	4067	5875	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88479887C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4366G>A	12.37:g.88479887C>T	ENSP00000448012:p.Ala1456Thr					CEP290_ENST00000547691.2_Missense_Mutation_p.A516T|CEP290_ENST00000397838.3_Missense_Mutation_p.A516T|CEP290_ENST00000309041.7_Missense_Mutation_p.A1458T	p.A1456T	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			34	4709	-			1456					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.4366G>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139066	0.77775	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.68765	0.05;-0.35;-0.35;0.05	5.78	5.78	0.91487	.	0.094954	0.64402	D	0.000001	T	0.76601	0.4010	M	0.68952	2.095	0.54753	D	0.999983	D	0.71674	0.998	P	0.58620	0.842	T	0.70008	-0.4990	10	0.11182	T	0.66	.	20.0165	0.97478	0.0:1.0:0.0:0.0	.	1456	O15078	CE290_HUMAN	T	516;1456;1458;516	ENSP00000446905:A516T;ENSP00000448012:A1456T;ENSP00000308021:A1458T;ENSP00000380938:A516T	ENSP00000308021:A1458T	A	-	1	0	CEP290	87004018	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	5.144000	0.64832	2.736000	0.93811	0.557000	0.71058	GCT		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		10	19	0	0	0	1	0	10	19				
GEMIN7	79760	broad.mit.edu	37	19	45593396	45593396	+	Silent	SNP	C	C	T	rs151025211		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45593396C>T	ENST00000270257.4	+	3	271	c.24C>T	c.(22-24)ccC>ccT	p.P8P	GEMIN7_ENST00000591607.1_Silent_p.P8P|GEMIN7_ENST00000591747.1_Silent_p.P8P|PPP1R37_ENST00000221462.4_5'Flank|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Silent_p.P8P|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	8					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGAACATTCCCGTGCCTGTGC	0.572																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(22-24)ccC>ccT		gem (nuclear organelle) associated protein 7		C	,,	2,4404		0,2,2201	90.0	100.0	97.0		24,24,24	-8.4	0.8	19	dbSNP_134	97	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	GEMIN7	NM_001007269.1,NM_001007270.1,NM_024707.2	,,	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	,,	8/132,8/132,8/132	45593396	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	0				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593396C>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.24C>T	19.37:g.45593396C>T						GEMIN7_ENST00000591607.1_Silent_p.P8P|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000391951.2_Silent_p.P8P|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_Silent_p.P8P	p.P8P	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	271	+		Ovarian(192;0.0728)|all_neural(266;0.112)	8					Q6IA34	Silent	SNP	ENST00000270257.4	37	c.24C>T	CCDS12654.1																																																																																				0.572	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			36	53	0	0	0	1	0	36	53				
TMEM138	51524	broad.mit.edu	37	11	61131887	61131887	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61131887C>A	ENST00000278826.6	+	2	584	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CYB561A3_ENST00000294072.4_5'Flank|CYB561A3_ENST00000546151.1_5'Flank|TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000381787.2_5'Flank|CYB561A3_ENST00000540317.1_5'Flank|TMEM138_ENST00000542946.1_Missense_Mutation_p.L9M|CYB561A3_ENST00000447532.2_5'Flank|CYB561A3_ENST00000426130.2_5'Flank|CYB561A3_ENST00000544118.1_5'Flank	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	9					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						TAACTACAGCCTGGTGCTCTC	0.532																																						ENST00000542946.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(25-27)Ctg>Atg		transmembrane protein 138							179.0	150.0	160.0					11																	61131887		2203	4299	6502	SO:0001583	missense	51524					integral to membrane		g.chr11:61131887C>A	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.25C>A	11.37:g.61131887C>A	ENSP00000278826:p.Leu9Met					TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000278826.6_Missense_Mutation_p.L9M	p.L9M			Q9NPI0	TM138_HUMAN			2	224	+			9					A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	c.25C>A	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400698	0.62177	.	.	ENSG00000149483	ENST00000278826;ENST00000542946	D;T	0.89415	-2.51;-1.19	5.18	3.32	0.38043	.	0.000000	0.64402	D	0.000018	D	0.92341	0.7570	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.976;0.956	D	0.90101	0.4184	10	0.36615	T	0.2	-16.7098	11.1924	0.48693	0.0:0.85:0.0:0.15	.	9;9;9	B4E044;Q9NPI0-2;Q9NPI0	.;.;TM138_HUMAN	M	9	ENSP00000278826:L9M;ENSP00000445792:L9M	ENSP00000278826:L9M	L	+	1	2	TMEM138	60888463	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.454000	0.44979	0.581000	0.29539	0.563000	0.77884	CTG		0.532	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464		8	52	1	0	0.27861	1	0.27891	8	52				
CALHM2	51063	broad.mit.edu	37	10	105209329	105209329	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105209329G>A	ENST00000260743.5	-	3	893	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CALHM2_ENST00000393235.1_Missense_Mutation_p.R124C|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.R124C|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	124					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCTCACCACGCAGCAGGGAG	0.607																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(370-372)Cgt>Tgt		calcium homeostasis modulator 2							91.0	77.0	81.0					10																	105209329		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209329G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.370C>T	10.37:g.105209329G>A	ENSP00000260743:p.Arg124Cys					CALHM2_ENST00000260743.5_Missense_Mutation_p.R124C|CALHM2_ENST00000369788.3_Missense_Mutation_p.R124C	p.R124C			Q9HA72	CAHM2_HUMAN			3	1567	-			124					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.370C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310532	0.81358	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.19250	2.16;2.16;2.16	5.31	4.37	0.52481	.	0.058276	0.64402	D	0.000002	T	0.44052	0.1275	M	0.68317	2.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.74023	0.982;0.966;0.894	T	0.38693	-0.9649	10	0.59425	D	0.04	-27.0597	15.344	0.74320	0.0:0.0:0.86:0.14	.	124;124;124	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	C	124	ENSP00000358803:R124C;ENSP00000260743:R124C;ENSP00000376927:R124C	ENSP00000260743:R124C	R	-	1	0	CALHM2	105199319	0.997000	0.39634	0.992000	0.48379	0.996000	0.88848	3.045000	0.49838	2.474000	0.83562	0.561000	0.74099	CGT		0.607	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		18	26	0	0	0	1	0	18	26				
SYNE2	23224	broad.mit.edu	37	14	64497799	64497799	+	Silent	SNP	C	C	T	rs564454573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64497799C>T	ENST00000344113.4	+	45	7157	c.6945C>T	c.(6943-6945)tcC>tcT	p.S2315S	SYNE2_ENST00000554584.1_Silent_p.S2315S|SYNE2_ENST00000358025.3_Silent_p.S2315S|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2315					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGCAAAATCCGTCAAGCAAA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		19712	0.0		0.001	False		,,,				2504	0.0					ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6943-6945)tcC>tcT		spectrin repeat containing, nuclear envelope 2							105.0	103.0	104.0					14																	64497799		1809	4081	5890	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64497799C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6945C>T	14.37:g.64497799C>T						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S2315S|SYNE2_ENST00000344113.4_Silent_p.S2315S	p.S2315S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7175	+			2315					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6945C>T	CCDS41963.1																																																																																				0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		29	57	0	0	0	1	0	29	57				
DIS3	22894	broad.mit.edu	37	13	73346001	73346001	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:73346001T>C	ENST00000377767.4	-	11	1637	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	DIS3_ENST00000377780.4_Missense_Mutation_p.I483V|DIS3_ENST00000545453.1_Missense_Mutation_p.I351V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	513					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTGGCCTAATAAAATGGCTC	0.333										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1537-1539)Att>Gtt		DIS3 mitotic control homolog (S. cerevisiae)							95.0	95.0	95.0					13																	73346001		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346001T>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1537A>G	13.37:g.73346001T>C	ENSP00000366997:p.Ile513Val	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.I483V|DIS3_ENST00000545453.1_Missense_Mutation_p.I351V	p.I513V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	11	1637	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	513					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1537A>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.803890	0.31869	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.34667	1.35;1.35;1.35	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	N	0.00783	-1.19	0.80722	D	1	B;B	0.30889	0.254;0.299	B;B	0.41510	0.245;0.359	T	0.31530	-0.9940	10	0.02654	T	1	.	16.0785	0.80982	0.0:0.0:0.0:1.0	.	483;513	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	513;483;351	ENSP00000366997:I513V;ENSP00000367011:I483V;ENSP00000440058:I351V	ENSP00000366997:I513V	I	-	1	0	DIS3	72244002	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.852000	0.86927	2.200000	0.70718	0.379000	0.24179	ATT		0.333	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		5	70	0	0	0	1	0	5	70				
HCK	3055	broad.mit.edu	37	20	30659555	30659555	+	Silent	SNP	C	C	T	rs112610391	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30659555C>T	ENST00000520553.1	+	2	336	c.90C>T	c.(88-90)taC>taT	p.Y30Y	HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000538448.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000534862.1_Silent_p.Y31Y	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	51					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTCCTGTGTACGTGCCGGATC	0.582																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(91-93)taC>taT		hemopoietic cell kinase							94.0	75.0	81.0					20																	30659555		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659555C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.90C>T	20.37:g.30659555C>T						HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000538448.1_Silent_p.Y30Y	p.Y31Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	456	+			51					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.93C>T	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			18	14	0	0	0	1	0	18	14				
SPTBN2	6712	broad.mit.edu	37	11	66475239	66475239	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66475239G>A	ENST00000533211.1	-	13	1732	c.1401C>T	c.(1399-1401)caC>caT	p.H467H	SPTBN2_ENST00000529997.1_Silent_p.H467H|SPTBN2_ENST00000309996.2_Silent_p.H467H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	467					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CAATGGCTTCGTGCTTCCGTA	0.657																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1399-1401)caC>caT		spectrin, beta, non-erythrocytic 2							58.0	51.0	53.0					11																	66475239		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66475239G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1401C>T	11.37:g.66475239G>A						SPTBN2_ENST00000309996.2_Silent_p.H467H|SPTBN2_ENST00000529997.1_Silent_p.H467H	p.H467H			O15020	SPTN2_HUMAN			13	1732	-			467					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1401C>T	CCDS8150.1																																																																																				0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	36	0	0	0	1	0	5	36				
C9orf117	286207	broad.mit.edu	37	9	130473655	130473655	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130473655C>T	ENST00000373295.2	+	4	775	c.735C>T	c.(733-735)ggC>ggT	p.G245G	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	245										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCAGCAAGGCATGAAGCTGC	0.562																																						ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(733-735)ggC>ggT		chromosome 9 open reading frame 117							65.0	67.0	66.0					9																	130473655		2005	4183	6188	SO:0001819	synonymous_variant	286207							g.chr9:130473655C>T	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.735C>T	9.37:g.130473655C>T							p.G245G	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			4	775	+			245					A5D8T9	Silent	SNP	ENST00000373295.2	37	c.735C>T	CCDS43878.1																																																																																				0.562	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		10	24	0	0	0	1	0	10	24				
STX8	9482	broad.mit.edu	37	17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9471774C>T	ENST00000306357.4	-	2	458	c.31G>A	c.(31-33)Gat>Aat	p.D11N	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	11					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D11N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAAGTAGAATCGTATGTGGAG	0.403																																						ENST00000306357.3																			1	Substitution - Missense(1)	p.D11N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(31-33)Gat>Aat		syntaxin 8							125.0	101.0	109.0					17																	9471774		2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9471774C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.31G>A	17.37:g.9471774C>T	ENSP00000305255:p.Asp11Asn					STX8_ENST00000573373.1_Missense_Mutation_p.D11N|STX8_ENST00000574431.1_Intron|STX8_ENST00000573077.3_5'UTR	p.D11N	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			2	458	-			11					O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.31G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831684	0.91036	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.52099	D	0.999948	D	0.69078	0.997	P	0.56088	0.791	T	0.73094	-0.4091	9	0.40728	T	0.16	0.7227	16.6943	0.85330	0.0:1.0:0.0:0.0	.	11	Q9UNK0	STX8_HUMAN	N	11	.	ENSP00000305255:D11N	D	-	1	0	STX8	9412499	0.995000	0.38212	0.965000	0.40720	0.975000	0.68041	4.039000	0.57325	2.680000	0.91292	0.655000	0.94253	GAT		0.403	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		17	44	0	0	0	1	0	17	44				
LPHN2	23266	broad.mit.edu	37	1	82450315	82450315	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82450315G>T	ENST00000370728.1	+	22	3964	c.3319G>T	c.(3319-3321)Ggc>Tgc	p.G1107C	LPHN2_ENST00000335786.5_Missense_Mutation_p.G1107C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1107C|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1094C|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1122C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1122C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1094C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1032C			O95490	LPHN2_HUMAN	latrophilin 2	1107					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGCTGTGGAGGCCTCCCAAC	0.468																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3319-3321)Ggc>Tgc		latrophilin 2							148.0	140.0	143.0					1																	82450315		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450315G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3319G>T	1.37:g.82450315G>T	ENSP00000359763:p.Gly1107Cys					LPHN2_ENST00000359929.3_Missense_Mutation_p.G1094C|LPHN2_ENST00000370730.1_Missense_Mutation_p.G1107C|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1094C|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1107C|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1109C|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1032C|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1122C|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1122C|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1094C|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1122C|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1122C	p.G1107C			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	22	3964	+			1107					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3319G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.36|16.36|16.36	3.102699|3.102699|3.102699	0.56183|0.56183|0.56183	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.37752|.	.|1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18|.	5.74|5.74|5.74	0.757|0.757|0.757	0.18427|0.18427|0.18427	.|.|.	.|0.170192|.	.|0.51477|.	.|D|.	.|0.000082|.	T|T|T	0.43809|0.43809|0.43809	0.1264|0.1264|0.1264	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.44635|0.44635|0.44635	D|D|D	0.997616|0.997616|0.997616	.|D;D;D|.	.|0.76494|.	.|0.995;0.999;0.995|.	.|D;P;P|.	.|0.63703|.	.|0.917;0.849;0.879|.	T|T|T	0.36261|0.36261|0.36261	-0.9755|-0.9755|-0.9755	5|10|5	.|0.44086|.	.|T|.	.|0.13|.	.|.|.	10.278|10.278|10.278	0.43521|0.43521|0.43521	0.3172:0.0:0.6828:0.0|0.3172:0.0:0.6828:0.0|0.3172:0.0:0.6828:0.0	.|.|.	.|1094;1094;1094|.	.|O95490-3;O95490-4;O95490-2|.	.|.;.;.|.	D|C|M	998|1032;1107;1107;1122;1122;1109;1094;1094;1094;1094;1122;1109;1122;1107|112	.|ENSP00000359756:G1032C;ENSP00000359763:G1107C;ENSP00000359765:G1107C;ENSP00000359762:G1122C;ENSP00000359760:G1122C;ENSP00000359758:G1109C;ENSP00000353006:G1094C;ENSP00000359750:G1094C;ENSP00000359748:G1094C;ENSP00000322270:G1094C;ENSP00000359752:G1122C;ENSP00000378344:G1109C;ENSP00000271029:G1122C;ENSP00000337306:G1107C|.	.|ENSP00000271029:G1122C|.	E|G|R	+|+|+	3|1|2	2|0|0	LPHN2|LPHN2|LPHN2	82222903|82222903|82222903	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.749000|0.749000|0.749000	0.31150|0.31150|0.31150	0.787000|0.787000|0.787000	0.44495|0.44495|0.44495	2.434000|2.434000|2.434000	0.44802|0.44802|0.44802	-0.094000|-0.094000|-0.094000	0.12374|0.12374|0.12374	-0.350000|-0.350000|-0.350000	0.07774|0.07774|0.07774	GAG|GGC|AGG		0.468	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		5	88	1	0	0.014758	1	0.0148771	5	88				
TTLL4	9654	broad.mit.edu	37	2	219618908	219618908	+	Silent	SNP	G	G	A	rs148310172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219618908G>A	ENST00000392102.1	+	20	3736	c.3396G>A	c.(3394-3396)acG>acA	p.T1132T	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.T1068T|TTLL4_ENST00000258398.4_Silent_p.T1132T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1132					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ACGGGACCACGCCCAAATCCA	0.493																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(3394-3396)acG>acA		tubulin tyrosine ligase-like family, member 4		G		0,4406		0,0,2203	158.0	160.0	159.0		3396	-8.5	0.0	2	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTLL4	NM_014640.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1132/1200	219618908	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219618908G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3396G>A	2.37:g.219618908G>A						TTLL4_ENST00000442769.1_Silent_p.T1068T|TTLL4_ENST00000258398.4_Silent_p.T1132T|TTLL4_ENST00000457313.1_Intron	p.T1132T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	20	3736	+		Renal(207;0.0915)	1132					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.3396G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	g	2.849	-0.238633	0.05944	0.0	1.16E-4	ENSG00000135912	ENST00000436668	.	.	.	4.51	-8.48	0.00935	.	.	.	.	.	T	0.16428	0.0395	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17077	-1.0381	4	.	.	.	.	2.8271	0.05488	0.4561:0.2135:0.2416:0.0889	.	.	.	.	T	235	.	.	A	+	1	0	TTLL4	219327152	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.017000	0.03630	-2.008000	0.00955	-2.226000	0.00293	GCC		0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		47	81	0	0	0	1	0	47	81				
SLC13A5	284111	broad.mit.edu	37	17	6610467	6610467	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6610467C>T	ENST00000433363.2	-	2	344	c.111G>A	c.(109-111)agG>agA	p.R37R	SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.R37R|SLC13A5_ENST00000293800.6_Silent_p.R37R	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	37					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CGTAGGCACACCTGACAAACT	0.572																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(109-111)agG>agA		solute carrier family 13 (sodium-dependent citrate transporter), member 5							153.0	134.0	141.0					17																	6610467		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6610467C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.111G>A	17.37:g.6610467C>T						SLC13A5_ENST00000293800.6_Silent_p.R37R|SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.R37R	p.R37R	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			2	344	-			37					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.111G>A	CCDS11079.1																																																																																				0.572	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		9	12	0	0	0	1	0	9	12				
RAB3GAP2	25782	broad.mit.edu	37	1	220363470	220363470	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:220363470T>C	ENST00000358951.2	-	16	1766	c.1650A>G	c.(1648-1650)cgA>cgG	p.R550R		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	550					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATCCTTGGCTCGTTCACTCT	0.318																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1648-1650)cgA>cgG		RAB3 GTPase activating protein subunit 2 (non-catalytic)							110.0	108.0	109.0					1																	220363470		2203	4299	6502	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220363470T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1650A>G	1.37:g.220363470T>C							p.R550R	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	16	1766	-			550					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.1650A>G	CCDS31028.1																																																																																				0.318	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	23	0	0	0	1	0	20	23				
ZAN	7455	broad.mit.edu	37	7	100392853	100392853	+	RNA	SNP	G	G	A	rs369009637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100392853G>A	ENST00000348028.3	+	0	8052				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGAATGACGGGCAGTGTCG	0.627																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							30.0	33.0	32.0					7																	100392853		1966	4139	6105			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100392853G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100392853G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	8371	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	17.45	3.393691	0.62066	.	.	ENSG00000146839	ENST00000546292;ENST00000546213	T;D	0.97480	0.58;-4.4	4.59	4.59	0.56863	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37955	N	0.001873	D	0.97971	0.9332	.	.	.	0.31234	N	0.696025	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96443	0.9328	9	0.42905	T	0.14	.	13.6166	0.62112	0.0:0.0:1.0:0.0	.	1092;2629;2721	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	R	2629;1092	ENSP00000445943:G2629R;ENSP00000441117:G1092R	ENSP00000441117:G1092R	G	+	1	0	ZAN	100230789	1.000000	0.71417	0.700000	0.30305	0.416000	0.31233	4.714000	0.61902	2.491000	0.84063	0.655000	0.94253	GGG		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	14	0	0	0	1	0	6	14				
TRIM15	89870	broad.mit.edu	37	6	30131521	30131521	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30131521G>A	ENST00000376694.4	+	1	529	c.60G>A	c.(58-60)gcG>gcA	p.A20A	TRIM10_ENST00000376704.3_5'Flank|TRIM10_ENST00000449742.2_5'Flank|TRIM15_ENST00000376688.1_Silent_p.A20A	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	20					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCTCTGTGCGGGGCCGCTGG	0.677																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(58-60)gcG>gcA		tripartite motif containing 15							53.0	47.0	49.0					6																	30131521		1511	2708	4219	SO:0001819	synonymous_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131521G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.60G>A	6.37:g.30131521G>A						TRIM15_ENST00000376688.1_Silent_p.A20A	p.A20A	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			1	529	+			20					A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.60G>A	CCDS4677.1																																																																																				0.677	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		9	6	0	0	0	1	0	9	6				
GRM6	2916	broad.mit.edu	37	5	178410056	178410056	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178410056G>A	ENST00000517717.1	-	10	2329	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	GRM6_ENST00000231188.5_Missense_Mutation_p.T764M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACTGTGCACGTGACCATGAG	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2290-2292)aCg>aTg		glutamate receptor, metabotropic 6							128.0	105.0	113.0					5																	178410056		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410056G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2291C>T	5.37:g.178410056G>A	ENSP00000430767:p.Thr764Met					GRM6_ENST00000517717.1_Missense_Mutation_p.T764M|RP11-281O15.4_ENST00000519491.1_RNA	p.T764M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2469	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	764						Missense_Mutation	SNP	ENST00000517717.1	37	c.2291C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974798	0.92919	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.88509	-2.39;-2.39	5.17	5.17	0.71159	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.88808	0.6537	L	0.36672	1.1	0.58432	D	0.999996	P;P	0.52061	0.95;0.949	P;P	0.52514	0.701;0.59	D	0.88479	0.3067	9	0.42905	T	0.14	.	16.5338	0.84367	0.0:0.0:1.0:0.0	.	764;58	O15303;Q5HYM4	GRM6_HUMAN;.	M	764	ENSP00000231188:T764M;ENSP00000430767:T764M	ENSP00000231188:T764M	T	-	2	0	GRM6	178342662	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	9.661000	0.98601	2.587000	0.87381	0.305000	0.20034	ACG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			23	27	0	0	0	1	0	23	27				
ZFC3H1	196441	broad.mit.edu	37	12	72056884	72056884	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:72056884C>T	ENST00000378743.3	-	1	865	c.507G>A	c.(505-507)aaG>aaA	p.K169K	ZFC3H1_ENST00000552037.1_Silent_p.K169K|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.K169K|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	169					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCACCCCGGCTTGCCTCCTC	0.657																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(505-507)aaG>aaA		zinc finger, C3H1-type containing							83.0	97.0	93.0					12																	72056884		2008	4164	6172	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056884C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.507G>A	12.37:g.72056884C>T						ZFC3H1_ENST00000548100.1_Silent_p.K169K|ZFC3H1_ENST00000552037.1_Silent_p.K169K|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'UTR	p.K169K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	865	-			169					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.507G>A	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		31	56	0	0	0	1	0	31	56				
TKTL1	8277	broad.mit.edu	37	X	153524218	153524218	+	Silent	SNP	G	G	A	rs150445227	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153524218G>A	ENST00000369915.3	+	1	195	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	2					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACTAATGGCGGATGCTGAGG	0.597													G|||	4	0.0010596	0.0023	0.0014	3775	,	,		11769	0.0		0.0	False		,,,				2504	0.0					ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(4-6)gcG>gcA		transketolase-like 1		G	,	4,3831		0,3,1,1629,570	82.0	73.0	76.0		6,6	-7.6	0.0	X	dbSNP_134	76	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	TKTL1	NM_001145933.1,NM_012253.3	,	0,3,1,4057,2442	AA,AG,A,GG,G		0.0,0.1043,0.0379	,	2/591,2/597	153524218	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524218G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.6G>A	X.37:g.153524218G>A						TKTL1_ENST00000217905.7_5'UTR	p.A2A	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			1	195	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.6G>A	CCDS35448.1																																																																																				0.597	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		8	17	0	0	0	1	0	8	17				
GDF6	392255	broad.mit.edu	37	8	97156824	97156824	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:97156824C>T	ENST00000287020.5	-	2	1434	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	445					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCACCATGTCCTCGTACTGCT	0.632																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1333-1335)gaG>gaA		growth differentiation factor 6							38.0	44.0	42.0					8																	97156824		2203	4300	6503	SO:0001819	synonymous_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156824C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1335G>A	8.37:g.97156824C>T							p.E445E	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1434	-	Breast(36;2.67e-05)		445					Q6PI58	Silent	SNP	ENST00000287020.5	37	c.1335G>A	CCDS34926.1																																																																																				0.632	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		8	9	0	0	0	1	0	8	9				
MAST1	22983	broad.mit.edu	37	19	12975905	12975905	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12975905C>T	ENST00000251472.4	+	14	1590	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATTTCGGCCTCTCCAAGA	0.572																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1549-1551)ggC>ggT		microtubule associated serine/threonine kinase 1							129.0	110.0	117.0					19																	12975905		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975905C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1551C>T	19.37:g.12975905C>T							p.G517G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			14	1590	+			517			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1551C>T	CCDS32921.1																																																																																				0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		19	31	0	0	0	1	0	19	31				
DIP2B	57609	broad.mit.edu	37	12	51138419	51138419	+	Missense_Mutation	SNP	G	G	A	rs138370328	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51138419G>A	ENST00000301180.5	+	38	4562	c.4528G>A	c.(4528-4530)Ggc>Agc	p.G1510S	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1510						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAACTGTGCGGCTCTGAACA	0.483																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4528-4530)Ggc>Agc		DIP2 disco-interacting protein 2 homolog B (Drosophila)		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	193.0	152.0	166.0		4528	5.7	1.0	12	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense	DIP2B	NM_173602.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1510/1577	51138419	2,13004	2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138419G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4528G>A	12.37:g.51138419G>A	ENSP00000301180:p.Gly1510Ser						p.G1510S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			38	4562	+			1510					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4528G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172897	0.94807	2.27E-4	1.16E-4	ENSG00000066084	ENST00000301180	T	0.10192	2.9	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00419	-1.1751	10	0.20519	T	0.43	-14.8111	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1510	Q9P265	DIP2B_HUMAN	S	1510	ENSP00000301180:G1510S	ENSP00000301180:G1510S	G	+	1	0	DIP2B	49424686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GGC		0.483	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		14	101	0	0	0	1	0	14	101				
LOC146880	146880	broad.mit.edu	37	17	62748014	62748014	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62748014C>A	ENST00000400873.3	-	0	2295					NR_026899.1																						ATTTTGTCTACGCCTCCACAT	0.343																																						ENST00000400873.3																			0																																																			0							g.chr17:62748014C>A																													17.37:g.62748014C>A								NR_026899.1						0	2295	-									RNA	SNP	ENST00000400873.3	37																																																																																						0.343	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				5	93	1	0	1.23904e-05	1	1.28158e-05	5	93				
RBFA	79863	broad.mit.edu	37	18	77798609	77798609	+	Silent	SNP	G	G	A	rs143262320	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77798609G>A	ENST00000306735.5	+	4	621	c.483G>A	c.(481-483)gcG>gcA	p.A161A	RBFA_ENST00000262197.7_Silent_p.A161A|RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	161					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAAGTGCCGCGCACATGAGGT	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		19011	0.0		0.001	False		,,,				2504	0.001					ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(481-483)gcG>gcA		ribosome binding factor A (putative)		G	,	1,4405	2.1+/-5.4	0,1,2202	84.0	79.0	81.0		483,483	-7.8	0.0	18	dbSNP_134	81	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	RBFA	NM_001171967.1,NM_024805.2	,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,	161/243,161/344	77798609	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77798609G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.483G>A	18.37:g.77798609G>A						RBFA_ENST00000262197.7_Silent_p.A161A|RBFADN_ENST00000569722.1_Intron	p.A161A	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			4	621	+			161					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.483G>A	CCDS12021.1																																																																																				0.498	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		6	22	0	0	0	1	0	6	22				
MEN1	4221	broad.mit.edu	37	11	64575422	64575422	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64575422G>A	ENST00000337652.1	-	3	1113	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	MEN1_ENST00000315422.4_Missense_Mutation_p.H199Y|MEN1_ENST00000377316.2_Missense_Mutation_p.H199Y|MEN1_ENST00000394376.1_Missense_Mutation_p.H204Y|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.H204Y|MEN1_ENST00000394374.2_Missense_Mutation_p.H204Y|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000377313.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377326.3_Missense_Mutation_p.H199Y|MEN1_ENST00000312049.6_Missense_Mutation_p.H199Y	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	204					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCTTGCCGTGCCAGGTGACC	0.632			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(610-612)Cac>Tac		multiple endocrine neoplasia I							85.0	66.0	72.0					11																	64575422		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575422G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.610C>T	11.37:g.64575422G>A	ENSP00000337088:p.His204Tyr					MEN1_ENST00000394374.2_Missense_Mutation_p.H204Y|MEN1_ENST00000443283.1_Missense_Mutation_p.H204Y|MEN1_ENST00000394376.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377326.3_Missense_Mutation_p.H199Y|MEN1_ENST00000377313.1_Missense_Mutation_p.H204Y|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000315422.4_Missense_Mutation_p.H199Y|MEN1_ENST00000312049.6_Missense_Mutation_p.H199Y|MEN1_ENST00000377316.2_Missense_Mutation_p.H199Y	p.H204Y	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			3	1113	-			204					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.610C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700389	0.88924	.	.	ENSG00000133895	ENST00000377316;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	4.76	4.76	0.60689	.	0.114155	0.64402	D	0.000018	D	0.99459	0.9808	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.958;0.975	D	0.98342	1.0539	10	0.87932	D	0	-7.1759	15.7236	0.77736	0.0:0.0:1.0:0.0	.	199;204	O00255-2;O00255	.;MEN1_HUMAN	Y	199;199;199;199;204;204;204;204;204;199;199;199	ENSP00000366533:H199Y;ENSP00000366543:H199Y;ENSP00000308975:H199Y;ENSP00000323747:H199Y;ENSP00000337088:H204Y;ENSP00000377901:H204Y;ENSP00000377899:H204Y;ENSP00000396940:H204Y;ENSP00000366530:H204Y;ENSP00000413944:H199Y;ENSP00000394933:H199Y;ENSP00000411218:H199Y	ENSP00000308975:H199Y	H	-	1	0	MEN1	64331998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.690000	0.91272	2.382000	0.81193	0.456000	0.33151	CAC		0.632	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			14	19	0	0	0	1	0	14	19				
UBR5	51366	broad.mit.edu	37	8	103310685	103310685	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103310685G>A	ENST00000520539.1	-	26	3965	c.3359C>T	c.(3358-3360)gCt>gTt	p.A1120V	UBR5_ENST00000220959.4_Missense_Mutation_p.A1120V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1114V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCACTTACAGCTGACATAAA	0.318																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(3358-3360)gCt>gTt		ubiquitin protein ligase E3 component n-recognin 5							60.0	61.0	60.0					8																	103310685		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103310685G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3359C>T	8.37:g.103310685G>A	ENSP00000429084:p.Ala1120Val					UBR5_ENST00000220959.4_Missense_Mutation_p.A1120V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1114V	p.A1120V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		26	3965	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1120					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3359C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535519	0.85812	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.69306	-0.39;-0.39;-0.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.70595	2.14	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.65443	0.935;0.935	T	0.82500	-0.0426	10	0.87932	D	0	.	19.3831	0.94545	0.0:0.0:1.0:0.0	.	1114;1120	E7EMW7;O95071	.;UBR5_HUMAN	V	1120;1120;1114	ENSP00000429084:A1120V;ENSP00000220959:A1120V;ENSP00000427819:A1114V	ENSP00000220959:A1120V	A	-	2	0	UBR5	103379861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.761000	0.94854	0.585000	0.79938	GCT		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		25	31	0	0	0	1	0	25	31				
ARL6	84100	broad.mit.edu	37	3	97503809	97503809	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97503809G>T	ENST00000463745.1	+	5	742	c.265G>T	c.(265-267)Gct>Tct	p.A89S	ARL6_ENST00000335979.2_Missense_Mutation_p.A89S|ARL6_ENST00000394206.1_Missense_Mutation_p.A89S|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	89			A -> V (in RP55). {ECO:0000269|PubMed:19956407}.		cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGAAGGCCAAGCTATTATTTT	0.318																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(265-267)Gct>Tct		ADP-ribosylation factor-like 6							139.0	136.0	137.0					3																	97503809		2203	4300	6503	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97503809G>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.265G>T	3.37:g.97503809G>T	ENSP00000419619:p.Ala89Ser					ARL6_ENST00000335979.2_Missense_Mutation_p.A89S|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.A89S	p.A89S	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	5	742	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	89		A -> V (in RP55).			A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.265G>T	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372014	0.82573	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.36	5.36	0.76844	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	M	0.91872	3.25	0.80722	D	1	P	0.35745	0.518	P	0.48840	0.592	D	0.93358	0.6724	10	0.87932	D	0	.	19.0566	0.93067	0.0:0.0:1.0:0.0	.	89	Q9H0F7	ARL6_HUMAN	S	89	ENSP00000419619:A89S;ENSP00000418740:A89S;ENSP00000337722:A89S;ENSP00000377756:A89S	ENSP00000337722:A89S	A	+	1	0	ARL6	98986499	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.325000	0.96381	2.658000	0.90341	0.557000	0.71058	GCT		0.318	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		14	34	1	0	0.00244969	1	0.00248438	14	34				
BAHCC1	57597	broad.mit.edu	37	17	79409833	79409833	+	Silent	SNP	C	C	T	rs546281324		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79409833C>T	ENST00000307745.7	+	9	1458	c.1458C>T	c.(1456-1458)agC>agT	p.S486S																								TCCCTAAAAGCGGTCTGGACA	0.677													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15658	0.0		0.0	False		,,,				2504	0.0					ENST00000307745.7																			0											c.(1456-1458)agC>agT									25.0	28.0	27.0					17																	79409833		1893	4111	6004	SO:0001819	synonymous_variant	0							g.chr17:79409833C>T																												ENST00000307745.7:c.1458C>T	17.37:g.79409833C>T							p.S486S							9	1458	+									Silent	SNP	ENST00000307745.7	37	c.1458C>T																																																																																					0.677	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				5	16	0	0	0	1	0	5	16				
ANKRD13C	81573	broad.mit.edu	37	1	70771970	70771970	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70771970G>T	ENST00000370944.4	-	6	1026	c.713C>A	c.(712-714)cCt>cAt	p.P238H	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P203H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	238					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GGAAAGTAAAGGCACTGTATT	0.274																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(712-714)cCt>cAt		ankyrin repeat domain 13C							80.0	84.0	83.0					1																	70771970		2202	4295	6497	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70771970G>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.713C>A	1.37:g.70771970G>T	ENSP00000359982:p.Pro238His					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P203H	p.P238H	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			6	1026	-			238					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.713C>A	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970368	0.92919	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.81415	-0.45;-1.49	5.92	5.92	0.95590	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.91211	0.4999	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	203;238	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	H	238;203	ENSP00000359982:P238H;ENSP00000262346:P203H	ENSP00000262346:P203H	P	-	2	0	ANKRD13C	70544558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.809000	0.96659	0.655000	0.94253	CCT		0.274	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		24	39	1	0	7.01153e-11	1	7.51403e-11	24	39				
ZNF658	26149	broad.mit.edu	37	9	40774425	40774425	+	Missense_Mutation	SNP	C	C	T	rs144950113	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:40774425C>T	ENST00000602553.1	-	5	1144	c.850G>A	c.(850-852)Gct>Act	p.A284T	ZNF658_ENST00000441795.1_Missense_Mutation_p.A282T|ZNF658_ENST00000377626.3_Missense_Mutation_p.A284T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A284T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATTCAACAGCGGTGGTTTTG	0.388													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18869	0.0		0.0	False		,,,				2504	0.0					ENST00000602553.1																			1	Substitution - Missense(1)	p.A284T(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(850-852)Gct>Act		zinc finger protein 658							114.0	118.0	117.0					9																	40774425		2203	4297	6500	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774425C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.850G>A	9.37:g.40774425C>T	ENSP00000473484:p.Ala284Thr					ZNF658_ENST00000377626.3_Missense_Mutation_p.A284T|ZNF658_ENST00000441795.1_Missense_Mutation_p.A282T	p.A284T			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1144	-			284					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.850G>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	7.296	0.611957	0.14066	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.05258	3.7;3.47	2.15	-3.32	0.04973	.	.	.	.	.	T	0.02727	0.0082	N	0.11106	0.095	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.43410	-0.9393	9	0.62326	D	0.03	.	1.0757	0.01632	0.1893:0.1351:0.384:0.2916	.	284;284	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	T	282;284	ENSP00000408462:A282T;ENSP00000366853:A284T	ENSP00000366853:A284T	A	-	1	0	ZNF658	40764425	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	0.071000	0.14594	-0.548000	0.06199	-0.770000	0.03390	GCT		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		53	80	0	0	0	1	0	53	80				
FBXO36	130888	broad.mit.edu	37	2	230861622	230861622	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230861622T>G	ENST00000283946.3	+	3	379	c.361T>G	c.(361-363)Tca>Gca	p.S121A	FBXO36_ENST00000409992.1_Missense_Mutation_p.S101A|FBXO36_ENST00000373652.3_Missense_Mutation_p.S90A	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	121	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTGTCAAACATCACACAGATT	0.333																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(268-270)Tca>Gca		F-box protein 36							154.0	150.0	151.0					2																	230861622		2203	4300	6503	SO:0001583	missense	130888							g.chr2:230861622T>G	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.361T>G	2.37:g.230861622T>G	ENSP00000283946:p.Ser121Ala					FBXO36_ENST00000409992.1_Missense_Mutation_p.S101A|FBXO36_ENST00000283946.3_Missense_Mutation_p.S121A	p.S90A			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	689	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	121					B3KVQ6|Q53TE6|Q8WWD4	Missense_Mutation	SNP	ENST00000283946.3	37	c.268T>G	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222069	0.58560	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	T;T;T	0.36699	1.24;1.24;1.24	5.37	5.37	0.77165	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.082405	0.49916	D	0.000127	T	0.64034	0.2562	M	0.88450	2.955	0.38569	D	0.949892	D;D	0.63046	0.992;0.992	D;D	0.79108	0.992;0.992	T	0.68887	-0.5290	10	0.25751	T	0.34	-12.3498	14.3574	0.66748	0.0:0.0:0.0:1.0	.	90;121	B3KVQ6;Q8NEA4	.;FBX36_HUMAN	A	90;121;101	ENSP00000362756:S90A;ENSP00000283946:S121A;ENSP00000386673:S101A	ENSP00000283946:S121A	S	+	1	0	FBXO36	230569866	0.998000	0.40836	0.882000	0.34594	0.892000	0.51952	4.189000	0.58358	2.038000	0.60285	0.459000	0.35465	TCA		0.333	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		16	108	0	0	0	1	0	16	108				
PTK2	5747	broad.mit.edu	37	8	141754812	141754812	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141754812G>A	ENST00000522684.1	-	19	1802	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	PTK2_ENST00000395218.2_Silent_p.L525L|PTK2_ENST00000538769.1_Silent_p.L193L|PTK2_ENST00000517887.1_Silent_p.L569L|PTK2_ENST00000521059.1_Silent_p.L525L|PTK2_ENST00000519419.1_Silent_p.L569L|PTK2_ENST00000535192.1_Silent_p.L525L|PTK2_ENST00000340930.3_Silent_p.L525L|PTK2_ENST00000520151.1_Missense_Mutation_p.P119L|PTK2_ENST00000519465.1_Silent_p.L153L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGGCATACAGGATCAAAGAT	0.343																																						ENST00000520151.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(355-357)cCt>cTt		protein tyrosine kinase 2							131.0	120.0	123.0					8																	141754812		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141754812G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1573C>T	8.37:g.141754812G>A						PTK2_ENST00000340930.3_Silent_p.L525L|PTK2_ENST00000521059.1_Silent_p.L525L|PTK2_ENST00000538769.1_Silent_p.L193L|PTK2_ENST00000517887.1_Silent_p.L569L|PTK2_ENST00000522684.1_Silent_p.L525L|PTK2_ENST00000519419.1_Silent_p.L569L|PTK2_ENST00000535192.1_Silent_p.L525L|PTK2_ENST00000519465.1_Silent_p.L153L|PTK2_ENST00000395218.2_Silent_p.L525L	p.P119L			Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		4	417	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.356C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388571	0.11581	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.38	4.49	0.54785	.	.	.	.	.	T	0.68979	0.3060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67753	-0.5589	4	.	.	.	.	13.1595	0.59537	0.0779:0.0:0.9221:0.0	.	.	.	.	L	535	.	.	P	-	2	0	PTK2	141823994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.781000	0.55394	1.244000	0.43870	0.591000	0.81541	CCT		0.343	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		56	85	0	0	0	1	0	56	85				
DEPDC5	9681	broad.mit.edu	37	22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A	rs374944205		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32239701G>A	ENST00000382112.3	+	28	2747	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V902I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V893I	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	902					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCAGAGTTCGTCTCCTGCTG	0.498																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2704-2706)Gtc>Atc		DEP domain containing 5		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3809		0,1,1904	109.0	106.0	107.0		2677,2704,2470,2677	5.8	1.0	22		107	0,8232		0,0,4116	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29	0,1,6020	AA,AG,GG		0.0,0.0262,0.0083	benign,benign,benign,benign	893/1595,902/1604,824/1504,893/1573	32239701	1,12041	1905	4116	6021	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32239701G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2677G>A	22.37:g.32239701G>A	ENSP00000371546:p.Val893Ile					DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V893I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V893I	p.V902I			O75140	DEPD5_HUMAN			29	2846	+			893					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2704G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988678|2.988678	0.53934|0.53934	2.62E-4|2.62E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;B;P	.|0.46512	.|0.566;0.858;0.879;0.789;0.336;0.685	.|B;B;B;B;B;B	.|0.39971	.|0.315;0.173;0.225;0.182;0.022;0.089	T|T	0.01516|0.01516	-1.1335|-1.1335	5|10	.|0.33141	.|T	.|0.24	.|.	19.0579|19.0579	0.93074|0.93074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;902;824;902;893;893	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	H|I	299|824;902;893;824;902;824;893;902;893	.|ENSP00000440210:V824I;ENSP00000266091:V902I;ENSP00000383108:V893I;ENSP00000383105:V902I;ENSP00000371539:V824I;ENSP00000371546:V893I;ENSP00000371545:V902I;ENSP00000383107:V893I	.|ENSP00000266091:V902I	R|V	+|+	2|1	0|0	DEPDC5|DEPDC5	30569701|30569701	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	4.022000|4.022000	0.57203|0.57203	2.756000|2.756000	0.94617|0.94617	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		28	50	0	0	0	1	0	28	50				
ABCA1	19	broad.mit.edu	37	9	107589390	107589390	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107589390C>T	ENST00000374736.3	-	16	2570	c.2176G>A	c.(2176-2178)Gct>Act	p.A726T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	726					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTCACCACAGCAAACACGGAC	0.527																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2176-2178)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						167.0	124.0	138.0					9																	107589390		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589390C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2176G>A	9.37:g.107589390C>T	ENSP00000363868:p.Ala726Thr					ABCA1_ENST00000494467.1_5'UTR	p.A726T	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2570	-			726					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2176G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090333	0.76756	.	.	ENSG00000165029	ENST00000374736	T	0.77229	-1.08	5.3	5.3	0.74995	.	0.232833	0.43416	D	0.000579	T	0.77811	0.4186	L	0.60845	1.875	0.80722	D	1	B	0.19817	0.039	B	0.27262	0.078	T	0.73911	-0.3833	10	0.45353	T	0.12	.	18.9548	0.92654	0.0:1.0:0.0:0.0	.	726	O95477	ABCA1_HUMAN	T	726	ENSP00000363868:A726T	ENSP00000363868:A726T	A	-	1	0	ABCA1	106629211	1.000000	0.71417	0.957000	0.39632	0.972000	0.66771	7.818000	0.86416	2.468000	0.83385	0.655000	0.94253	GCT		0.527	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	11	0	0	0	1	0	4	11				
SETD2	29072	broad.mit.edu	37	3	47125634	47125634	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47125634C>T	ENST00000409792.3	-	12	5678	c.5636G>A	c.(5635-5637)cGc>cAc	p.R1879H	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1879					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCAGTCTGCGAAACATTAG	0.443			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5635-5637)cGc>cAc		SET domain containing 2							183.0	177.0	179.0					3																	47125634		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125634C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5636G>A	3.37:g.47125634C>T	ENSP00000386759:p.Arg1879His						p.R1879H	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5678	-		Acute lymphoblastic leukemia(5;0.0169)	1879					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.5636G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199606	0.79015	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24350	1.86	5.29	4.41	0.53225	.	0.000000	0.56097	D	0.000026	T	0.46034	0.1372	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.47995	-0.9073	10	0.72032	D	0.01	.	16.2841	0.82710	0.0:0.8673:0.1327:0.0	.	1879;1879	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1879	ENSP00000386759:R1879H	ENSP00000386759:R1879H	R	-	2	0	SETD2	47100638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.523000	0.60545	1.339000	0.45563	0.650000	0.86243	CGC		0.443	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		57	77	0	0	0	1	0	57	77				
WWP2	11060	broad.mit.edu	37	16	69973026	69973026	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69973026G>A	ENST00000359154.2	+	22	2541	c.2440G>A	c.(2440-2442)Ggt>Agt	p.G814S	WWP2_ENST00000448661.1_Splice_Site_p.G814S|WWP2_ENST00000568684.1_Splice_Site_p.G375S|WWP2_ENST00000356003.2_Splice_Site_p.G814S|WWP2_ENST00000542271.1_Splice_Site_p.G698S|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	814	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGAACTCATCGGTATGTTTTC	0.607																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e22+1		WW domain containing E3 ubiquitin protein ligase 2							65.0	54.0	58.0					16																	69973026		2197	4298	6495	SO:0001630	splice_region_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69973026G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2440+1G>A	16.37:g.69973026G>A						WWP2_ENST00000356003.2_Splice_Site_p.G814_splice|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Splice_Site_p.G698_splice|WWP2_ENST00000568684.1_Splice_Site_p.G375_splice|WWP2_ENST00000448661.1_Splice_Site_p.G814_splice	p.G814_splice	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			22	2541	+			814			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Splice_Site	SNP	ENST00000359154.2	37	c.2440_splice	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032306	0.75504	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.01	4.05	0.47172	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59392	-0.7463	9	.	.	.	.	13.4634	0.61239	0.0785:0.0:0.9215:0.0	.	814	O00308	WWP2_HUMAN	S	814;814;814;701;698	ENSP00000352069:G814S;ENSP00000396871:G814S;ENSP00000348283:G814S;ENSP00000445616:G698S	.	G	+	1	0	WWP2	68530527	1.000000	0.71417	0.937000	0.37676	0.112000	0.19704	9.869000	0.99810	2.339000	0.79563	0.561000	0.74099	GGT		0.607	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	Missense_Mutation	8	5	0	0	0	1	0	8	5				
SIGIRR	59307	broad.mit.edu	37	11	406440	406440	+	Silent	SNP	G	G	A	rs569951384		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:406440G>A	ENST00000431843.2	-	9	1284	c.978C>T	c.(976-978)gaC>gaT	p.D326D	SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000531205.1_Silent_p.D326D|SIGIRR_ENST00000332725.3_Silent_p.D326D|SIGIRR_ENST00000382520.2_Silent_p.D326D|SIGIRR_ENST00000397632.3_Silent_p.D326D	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	326					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCTTGTCGTCCTGCAGCT	0.642																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(976-978)gaC>gaT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							56.0	64.0	61.0					11																	406440		2200	4293	6493	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:406440G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.978C>T	11.37:g.406440G>A						SIGIRR_ENST00000382520.2_Silent_p.D326D|SIGIRR_ENST00000397632.3_Silent_p.D326D|SIGIRR_ENST00000531205.1_Silent_p.D326D|SIGIRR_ENST00000332725.3_Silent_p.D326D	p.D326D	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1284	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	326					Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.978C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.976945	0.92982	.	.	ENSG00000185187	ENST00000526395	.	.	.	3.01	-4.05	0.03998	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36890	-0.9729	4	.	.	.	.	1.8893	0.03244	0.4059:0.2637:0.2238:0.1067	.	.	.	.	M	58	.	.	T	-	2	0	SIGIRR	396440	0.144000	0.22641	0.993000	0.49108	0.519000	0.34347	-0.664000	0.05292	-0.529000	0.06358	0.491000	0.48974	ACG		0.642	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		20	39	0	0	0	1	0	20	39				
MYCN	4613	broad.mit.edu	37	2	16086001	16086001	+	Missense_Mutation	SNP	C	C	T	rs104893647		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:16086001C>T	ENST00000281043.3	+	3	1474	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	393	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		R -> H (in FGLDS1). {ECO:0000269|PubMed:15821734}.|R -> S (in FGLDS1). {ECO:0000269|PubMed:15821734}.		branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGAGCGCCAGCGCCGCAACGA	0.572			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	GRCh37	CM056658	MYCN	M	rs104893647	c.(1177-1179)Cgc>Tgc		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							78.0	83.0	81.0					2																	16086001		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086001C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1177C>T	2.37:g.16086001C>T	ENSP00000281043:p.Arg393Cys						p.R393C	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1474	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		393		R -> H (in MODED).|R -> S (in MODED).			Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1177C>T	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090345	0.76756	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.99722	-6.53	5.14	5.14	0.70334	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96621	0.9459	10	0.87932	D	0	-13.5801	15.4038	0.74861	0.1395:0.8604:0.0:0.0	.	393	P04198	MYCN_HUMAN	C	393;311	ENSP00000281043:R393C	ENSP00000281043:R393C	R	+	1	0	MYCN	16003452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.076000	0.41548	2.588000	0.87417	0.609000	0.83330	CGC		0.572	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		22	39	0	0	0	1	0	22	39				
NEBL	10529	broad.mit.edu	37	10	21139370	21139370	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21139370G>A	ENST00000377122.4	-	11	1466	c.1070C>T	c.(1069-1071)aCa>aTa	p.T357I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	357					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATATGATGGTGTCTCAACAAA	0.308																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1069-1071)aCa>aTa		nebulette							188.0	180.0	182.0					10																	21139370		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21139370G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1070C>T	10.37:g.21139370G>A	ENSP00000366326:p.Thr357Ile					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.T357I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			11	1466	-			357					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1070C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502637	0.85176	.	.	ENSG00000078114	ENST00000377122	T	0.60672	0.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82610	-0.0372	10	0.59425	D	0.04	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	357	O76041	NEBL_HUMAN	I	357	ENSP00000366326:T357I	ENSP00000366326:T357I	T	-	2	0	NEBL	21179376	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.753000	0.85153	2.640000	0.89533	0.655000	0.94253	ACA		0.308	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		19	52	0	0	0	1	0	19	52				
ZNF845	91664	broad.mit.edu	37	19	53854688	53854688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53854688C>T	ENST00000595091.1	+	5	979	c.760C>T	c.(760-762)Caa>Taa	p.Q254*	ZNF845_ENST00000458035.1_Nonsense_Mutation_p.Q254*			Q96IR2	ZN845_HUMAN	zinc finger protein 845	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGTCTTTAATCAAAAGCGATA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(760-762)Caa>Taa		zinc finger protein 845							116.0	95.0	101.0					19																	53854688		692	1591	2283	SO:0001587	stop_gained	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854688C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.760C>T	19.37:g.53854688C>T	ENSP00000470005:p.Gln254*					ZNF845_ENST00000595091.1_Nonsense_Mutation_p.Q254*	p.Q254*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	877	+			254						Nonsense_Mutation	SNP	ENST00000595091.1	37	c.760C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828632	0.71258	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	.	.	.	1.91	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	3.8144	0.08809	0.4021:0.4612:0.0:0.1367	.	.	.	.	X	254	.	ENSP00000412086:Q254X	Q	+	1	0	ZNF845	58546500	0.000000	0.05858	0.000000	0.03702	0.464000	0.32679	-2.781000	0.00773	-0.333000	0.08476	0.205000	0.17691	CAA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		23	28	0	0	0	1	0	23	28				
MYBL2	4605	broad.mit.edu	37	20	42331427	42331427	+	Missense_Mutation	SNP	C	C	T	rs199513514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42331427C>T	ENST00000217026.4	+	8	1376	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	MYBL2_ENST00000396863.4_Missense_Mutation_p.R393C	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	417					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R417C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGGAAGAGGCGTGTGGCTCT	0.617																																						ENST00000217026.4																			1	Substitution - Missense(1)	p.R417C(1)	kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1249-1251)Cgt>Tgt		v-myb avian myeloblastosis viral oncogene homolog-like 2							108.0	85.0	92.0					20																	42331427		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331427C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1249C>T	20.37:g.42331427C>T	ENSP00000217026:p.Arg417Cys					MYBL2_ENST00000396863.4_Missense_Mutation_p.R393C	p.R417C	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1376	+		Myeloproliferative disorder(115;0.00452)	417					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1249C>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795831	0.70452	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.18338	2.22;2.22	4.99	3.93	0.45458	.	0.248943	0.35179	N	0.003398	T	0.20941	0.0504	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.59056	0.851;0.791	T	0.00710	-1.1599	10	0.56958	D	0.05	-10.8439	10.1731	0.42922	0.3791:0.6209:0.0:0.0	.	393;417	F8W6N6;P10244	.;MYBB_HUMAN	C	393;417	ENSP00000380072:R393C;ENSP00000217026:R417C	ENSP00000217026:R417C	R	+	1	0	MYBL2	41764841	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.525000	0.53502	2.488000	0.83962	0.462000	0.41574	CGT		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		13	17	0	0	0	1	0	13	17				
PARN	5073	broad.mit.edu	37	16	14693776	14693776	+	Silent	SNP	G	G	A	rs374114285		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:14693776G>A	ENST00000437198.2	-	12	966	c.825C>T	c.(823-825)caC>caT	p.H275H	RN7SL274P_ENST00000492268.2_RNA|PARN_ENST00000341484.7_Silent_p.H214H|PARN_ENST00000420015.2_Silent_p.H229H|PARN_ENST00000539279.1_Silent_p.H100H	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	275					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TAGCAATGGCGTGAATGACTC	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17669	0.0		0.0	False		,,,				2504	0.0					ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(823-825)caC>caT		poly(A)-specific ribonuclease		G	,	6,3666		0,6,1830	122.0	111.0	114.0		642,825	-1.3	1.0	16		114	5,8169		0,5,4082	no	coding-synonymous,coding-synonymous	PARN	NM_001134477.2,NM_002582.3	,	0,11,5912	AA,AG,GG		0.0612,0.1634,0.0929	,	214/579,275/640	14693776	11,11835	1836	4087	5923	SO:0001819	synonymous_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14693776G>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.825C>T	16.37:g.14693776G>A						PARN_ENST00000539279.1_Silent_p.H100H|PARN_ENST00000420015.2_Silent_p.H229H|PARN_ENST00000341484.7_Silent_p.H214H	p.H275H	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			12	966	-			275					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	c.825C>T	CCDS45419.1																																																																																				0.313	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		18	26	0	0	0	1	0	18	26				
MED13	9969	broad.mit.edu	37	17	60028341	60028341	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60028341G>A	ENST00000397786.2	-	28	6212	c.6136C>T	c.(6136-6138)Cta>Tta	p.L2046L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2046					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTGATAGTAGCCGATCAGTA	0.383																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6136-6138)Cta>Tta		mediator complex subunit 13							110.0	98.0	102.0					17																	60028341		1890	4134	6024	SO:0001819	synonymous_variant	9969				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028341G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6136C>T	17.37:g.60028341G>A							p.L2046L	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6212	-			2046					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.6136C>T	CCDS42366.1																																																																																				0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		28	37	0	0	0	1	0	28	37				
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000472765.2_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1588-1590)ggC>ggT		chaperonin containing TCP1, subunit 3 (gamma)							115.0	118.0	117.0					1																	156279038		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156279038G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1590C>T	1.37:g.156279038G>A						CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368261.3_Silent_p.G485G|CCT3_ENST00000368259.2_Silent_p.G492G	p.G530G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			14	1870	-	Hepatocellular(266;0.158)		530					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.1590C>T	CCDS1140.2																																																																																				0.527	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		32	57	0	0	0	1	0	32	57				
EP300	2033	broad.mit.edu	37	22	41525896	41525896	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41525896G>A	ENST00000263253.7	+	5	2390	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	391					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCTTTAGTGGCACACTGTGC	0.348			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1171-1173)Gca>Aca		E1A binding protein p300							101.0	90.0	94.0					22																	41525896		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41525896G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1171G>A	22.37:g.41525896G>A	ENSP00000263253:p.Ala391Thr						p.A391T	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			5	2390	+			391					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1171G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674841	0.96764	.	.	ENSG00000100393	ENST00000263253	D	0.82255	-1.59	5.61	5.61	0.85477	Zinc finger, TAZ-type (5);	0.000000	0.48286	D	0.000194	D	0.88735	0.6517	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87769	0.2604	10	0.48119	T	0.1	-8.4728	20.0018	0.97417	0.0:0.0:1.0:0.0	.	391	Q09472	EP300_HUMAN	T	391	ENSP00000263253:A391T	ENSP00000263253:A391T	A	+	1	0	EP300	39855842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GCA		0.348	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		10	41	0	0	0	1	0	10	41				
INPP4B	8821	broad.mit.edu	37	4	142950057	142950057	+	Missense_Mutation	SNP	G	G	A	rs374251810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:142950057G>A	ENST00000513000.1	-	27	3086	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	INPP4B_ENST00000262992.4_Missense_Mutation_p.R885C|INPP4B_ENST00000508116.1_Missense_Mutation_p.R885C|INPP4B_ENST00000308502.4_Missense_Mutation_p.R885C	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	885					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCTCTATGCGGCATCCTTCT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0					ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2653-2655)Cgc>Tgc		inositol polyphosphate-4-phosphatase, type II, 105kDa		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	93.0	96.0		2653,2653	5.8	1.0	4		96	0,8600		0,0,4300	no	missense,missense	INPP4B	NM_001101669.1,NM_003866.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	885/925,885/925	142950057	1,13005	2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142950057G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2653C>T	4.37:g.142950057G>A	ENSP00000425487:p.Arg885Cys					INPP4B_ENST00000262992.4_Missense_Mutation_p.R885C|INPP4B_ENST00000308502.4_Missense_Mutation_p.R885C|INPP4B_ENST00000508116.1_Missense_Mutation_p.R885C	p.R885C	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			27	3086	-	all_hematologic(180;0.158)		885					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2653C>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875400	0.72180	2.27E-4	0.0	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.190363	0.46442	D	0.000297	T	0.77658	0.4163	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80037	-0.1550	10	0.87932	D	0	.	20.0938	0.97831	0.0:0.0:1.0:0.0	.	885	O15327	INP4B_HUMAN	C	885	ENSP00000425487:R885C;ENSP00000262992:R885C;ENSP00000308441:R885C;ENSP00000423954:R885C	ENSP00000262992:R885C	R	-	1	0	INPP4B	143169507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.810000	0.99221	2.757000	0.94681	0.585000	0.79938	CGC		0.403	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		23	47	0	0	0	1	0	23	47				
COMMD2	51122	broad.mit.edu	37	3	149470004	149470004	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:149470004G>A	ENST00000473414.1	-	2	192	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	46										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TACTGGCGGCGCCTTCGTAGA	0.567																																						ENST00000473414.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(136-138)ggC>ggT		COMM domain containing 2							75.0	85.0	81.0					3																	149470004		2203	4300	6503	SO:0001819	synonymous_variant	51122						protein binding	g.chr3:149470004G>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.138C>T	3.37:g.149470004G>A							p.G46G	NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	192	-			46					Q561V4|Q9H3L5|Q9Y5V1	Silent	SNP	ENST00000473414.1	37	c.138C>T	CCDS3145.1																																																																																				0.567	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		42	64	0	0	0	1	0	42	64				
RIMS2	9699	broad.mit.edu	37	8	104922612	104922612	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104922612G>T	ENST00000262231.10	+	3	1360	c.1112G>T	c.(1111-1113)aGg>aTg	p.R371M	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	594					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTAACACCAGGTCTGAGAGA	0.413										HNSCC(12;0.0054)																												ENST00000262231.10																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1111-1113)aGg>aTg		regulating synaptic membrane exocytosis 2							172.0	166.0	168.0					8																	104922612		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104922612G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000262231.10:c.1112G>T	8.37:g.104922612G>T	ENSP00000262231:p.Arg371Met	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron	p.R371M			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		3	1360	+			594					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000262231.10	37	c.1112G>T		.	.	.	.	.	.	.	.	.	.	G	9.493	1.101157	0.20632	.	.	ENSG00000176406	ENST00000402998;ENST00000262231	T	0.17213	2.29	4.95	3.01	0.34805	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10042	-1.0647	8	0.33940	T	0.23	.	6.679	0.23110	0.0925:0.0:0.5667:0.3408	.	371	Q9UQ26-1	.	M	594;371	ENSP00000262231:R371M	ENSP00000262231:R371M	R	+	2	0	RIMS2	104991788	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.670000	0.61583	1.206000	0.43276	-0.145000	0.13849	AGG		0.413	RIMS2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367214.5	NM_001100117		18	48	1	0	3.8784e-16	1	4.25337e-16	18	48				
HECTD1	25831	broad.mit.edu	37	14	31613366	31613366	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31613366T>C	ENST00000399332.1	-	17	3217	c.2729A>G	c.(2728-2730)gAa>gGa	p.E910G	HECTD1_ENST00000553700.1_Missense_Mutation_p.E910G|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	910					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCTACACATTTCATATGGTGA	0.308																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2728-2730)gAa>gGa		HECT domain containing E3 ubiquitin protein ligase 1							50.0	49.0	50.0					14																	31613366		1822	4079	5901	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31613366T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2729A>G	14.37:g.31613366T>C	ENSP00000382269:p.Glu910Gly					HECTD1_ENST00000553700.1_Missense_Mutation_p.E910G	p.E910G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	17	3217	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		910					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2729A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050030	0.93740	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.80480	-0.12;-0.12;0.38;-1.38	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.91399	0.7286	M	0.89715	3.055	0.80722	D	1	D;B	0.76494	0.999;0.319	D;B	0.75484	0.986;0.034	D	0.93125	0.6528	10	0.87932	D	0	-12.947	15.8889	0.79276	0.0:0.0:0.0:1.0	.	910;910	D3DS86;Q9ULT8	.;HECD1_HUMAN	G	910;910;910;384;910	ENSP00000450697:E910G;ENSP00000382269:E910G;ENSP00000451860:E384G;ENSP00000452015:E910G	ENSP00000261312:E910G	E	-	2	0	HECTD1	30683117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.143000	0.66587	0.533000	0.62120	GAA		0.308	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			43	53	0	0	0	1	0	43	53				
LRP4	4038	broad.mit.edu	37	11	46893139	46893139	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46893139G>T	ENST00000378623.1	-	31	4871	c.4629C>A	c.(4627-4629)gaC>gaA	p.D1543E	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1543					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCCATTGAGGTCAGCACTCT	0.557																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4627-4629)gaC>gaA		low density lipoprotein receptor-related protein 4							119.0	97.0	105.0					11																	46893139		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46893139G>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4629C>A	11.37:g.46893139G>T	ENSP00000367888:p.Asp1543Glu					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.D1543E	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	31	4871	-			1543					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4629C>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506561	0.64410	.	.	ENSG00000134569	ENST00000378623	D	0.94000	-3.33	5.81	2.97	0.34412	Six-bladed beta-propeller, TolB-like (1);	0.137576	0.53938	D	0.000060	D	0.95274	0.8467	M	0.76574	2.34	0.48696	D	0.999692	D	0.76494	0.999	D	0.80764	0.994	D	0.93136	0.6537	10	0.49607	T	0.09	.	7.5264	0.27658	0.4456:0.0:0.5544:0.0	.	1543	O75096	LRP4_HUMAN	E	1543	ENSP00000367888:D1543E	ENSP00000367888:D1543E	D	-	3	2	LRP4	46849715	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.635000	0.37134	0.388000	0.25054	-0.140000	0.14226	GAC		0.557	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		10	3	1	0	2.80697e-09	1	2.97546e-09	10	3				
STAMBPL1	57559	broad.mit.edu	37	10	90673111	90673111	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:90673111T>C	ENST00000371926.3	+	6	1632	c.674T>C	c.(673-675)gTa>gCa	p.V225A	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.V225A|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.V59A|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.V225A	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	225						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTGCTGAATGTATTTGCAGAT	0.468																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(673-675)gTa>gCa		STAM binding protein-like 1							127.0	118.0	121.0					10																	90673111		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90673111T>C	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.674T>C	10.37:g.90673111T>C	ENSP00000360994:p.Val225Ala					STAMBPL1_ENST00000371926.3_Missense_Mutation_p.V225A|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.V59A|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.V225A	p.V225A			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1632	+		Colorectal(252;0.0381)	225					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.674T>C	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	T	2.271	-0.367070	0.05069	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.22134	2.0;1.97;2.0;1.97	5.75	2.2	0.27929	.	0.589703	0.16180	N	0.225886	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.40757	-0.9546	10	0.06236	T	0.91	0.1715	7.7078	0.28661	0.0:0.3323:0.0:0.6677	.	225;225	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	A	225;225;225;59	ENSP00000360994:V225A;ENSP00000360995:V225A;ENSP00000360992:V225A;ENSP00000360990:V59A	ENSP00000360990:V59A	V	+	2	0	STAMBPL1	90663091	0.001000	0.12720	0.031000	0.17742	0.995000	0.86356	0.716000	0.25836	0.131000	0.18576	0.528000	0.53228	GTA		0.468	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		44	58	0	0	0	1	0	44	58				
TLX1	3195	broad.mit.edu	37	10	102894092	102894092	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102894092G>A	ENST00000370196.6	+	2	2771	c.729G>A	c.(727-729)gcG>gcA	p.A243A	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_Silent_p.A243A			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	243					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGACCGATGCGCAGGTCAAAA	0.687			T	"""TRB@, TRD@"""	T-ALL																																	ENST00000370196.6				Dom	yes		10	10q24	3195	T	""" T-cell leukemia, homeobox 1 (HOX11)"""			L	"""TRB@, TRD@"""		T-ALL		0				breast(1)|upper_aerodigestive_tract(1)	2						c.(727-729)gcG>gcA		T-cell leukemia homeobox 1							23.0	24.0	24.0					10																	102894092		2195	4297	6492	SO:0001819	synonymous_variant	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102894092G>A	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.729G>A	10.37:g.102894092G>A						TLX1_ENST00000467928.2_Silent_p.A243A	p.A243A			P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	2	2771	+			243					A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	ENST00000370196.6	37	c.729G>A	CCDS7510.1																																																																																				0.687	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		9	8	0	0	0	1	0	9	8				
ASAP1	50807	broad.mit.edu	37	8	131140295	131140295	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131140295G>A	ENST00000518721.1	-	16	1486	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	ASAP1_ENST00000357668.1_Missense_Mutation_p.T420I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	420					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAAGGCCATGGTTAGGGCCTC	0.433																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1258-1260)aCc>aTc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							94.0	87.0	89.0					8																	131140295		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131140295G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1259C>T	8.37:g.131140295G>A	ENSP00000429900:p.Thr420Ile					ASAP1_ENST00000518721.1_Missense_Mutation_p.T420I	p.T420I			Q9ULH1	ASAP1_HUMAN			15	1286	-			420					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1259C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396047	0.62177	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06142	3.34;3.34	5.99	5.99	0.97316	Pleckstrin homology-type (1);	0.347798	0.32002	N	0.006727	T	0.09202	0.0227	L	0.38175	1.15	0.45806	D	0.998687	B;B;B	0.22276	0.04;0.04;0.067	B;B;B	0.35655	0.051;0.051;0.207	T	0.16424	-1.0403	10	0.51188	T	0.08	.	12.9593	0.58449	0.0:0.0:0.7475:0.2525	.	420;420;423	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	I	423;420;420	ENSP00000350297:T420I;ENSP00000429900:T420I	ENSP00000344591:T423I	T	-	2	0	ASAP1	131209477	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.465000	0.66725	2.847000	0.97988	0.655000	0.94253	ACC		0.433	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		19	25	0	0	0	1	0	19	25				
ANKRD27	84079	broad.mit.edu	37	19	33134217	33134217	+	Silent	SNP	G	G	A	rs200412555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33134217G>A	ENST00000306065.4	-	8	839	c.681C>T	c.(679-681)taC>taT	p.Y227Y	ANKRD27_ENST00000587352.1_Silent_p.Y227Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	227					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGTCCCCACGTATTTAAAGA	0.453																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(679-681)taC>taT		ankyrin repeat domain 27 (VPS9 domain)							130.0	131.0	130.0					19																	33134217		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33134217G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.681C>T	19.37:g.33134217G>A						ANKRD27_ENST00000587352.1_Silent_p.Y227Y	p.Y227Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			8	839	-	Esophageal squamous(110;0.137)		227					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.681C>T	CCDS32986.1																																																																																				0.453	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		56	83	0	0	0	1	0	56	83				
RBBP8	5932	broad.mit.edu	37	18	20562268	20562268	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:20562268C>T	ENST00000399722.2	+	7	867	c.516C>T	c.(514-516)ggC>ggT	p.G172G	RBBP8_ENST00000360790.5_Silent_p.G172G|RBBP8_ENST00000399725.2_Silent_p.G172G|RBBP8_ENST00000327155.5_Silent_p.G172G	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	172					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CATTTTCTGGCGTTAACCGGC	0.438								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(514-516)ggC>ggT	Homologous recombination	retinoblastoma binding protein 8							168.0	147.0	154.0					18																	20562268		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20562268C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.516C>T	18.37:g.20562268C>T						RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Silent_p.G172G|RBBP8_ENST00000360790.5_Silent_p.G172G|RBBP8_ENST00000399725.2_Silent_p.G172G	p.G172G	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	867	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		172					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.516C>T	CCDS11875.1																																																																																				0.438	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		17	50	0	0	0	1	0	17	50				
HECTD4	283450	broad.mit.edu	37	12	112666494	112666494	+	Missense_Mutation	SNP	G	G	A	rs201183593		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112666494G>A	ENST00000430131.2	-	41	6520	c.5375C>T	c.(5374-5376)aCa>aTa	p.T1792I	HECTD4_ENST00000550722.1_Missense_Mutation_p.T2068I|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2042I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1792					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATAGTCAATGTGTCTGACGC	0.403																																						ENST00000550722.1																			0											c.(6202-6204)aCa>aTa		HECT domain containing E3 ubiquitin protein ligase 4							155.0	152.0	153.0					12																	112666494		1924	4129	6053	SO:0001583	missense	283450							g.chr12:112666494G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5375C>T	12.37:g.112666494G>A	ENSP00000404379:p.Thr1792Ile					HECTD4_ENST00000377560.5_Missense_Mutation_p.T2042I|HECTD4_ENST00000430131.2_Missense_Mutation_p.T1792I	p.T2068I	NM_001109662.3	NP_001103132.3					42	6598	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6203C>T		.	.	.	.	.	.	.	.	.	.	G	16.53	3.149623	0.57151	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.47177	0.85;0.85;0.85	6.17	6.17	0.99709	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.50313	D	0.999869	B	0.10296	0.003	B	0.08055	0.003	T	0.12041	-1.0563	9	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1792	Q9Y4D8	K0614_HUMAN	I	2042;1792;2068	ENSP00000366783:T2042I;ENSP00000404379:T1792I;ENSP00000449784:T2068I	ENSP00000366783:T2042I	T	-	2	0	C12orf51	111150877	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	5.944000	0.70219	2.941000	0.99782	0.655000	0.94253	ACA		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	45	0	0	0	1	0	10	45				
TRIM29	23650	broad.mit.edu	37	11	120008357	120008357	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120008357C>T	ENST00000341846.5	-	1	804	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	128					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AATGGACTTGCGCAGCTCGCC	0.637																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(382-384)cGc>cAc		tripartite motif containing 29							106.0	119.0	115.0					11																	120008357		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008357C>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.383G>A	11.37:g.120008357C>T	ENSP00000343129:p.Arg128His						p.R128H	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	804	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	128					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.383G>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952586	0.73787	.	.	ENSG00000137699	ENST00000341846	T	0.52057	0.68	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	T	0.58337	0.2115	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55023	-0.8205	9	.	.	.	.	16.895	0.86098	0.0:1.0:0.0:0.0	.	128	Q14134	TRI29_HUMAN	H	128	ENSP00000343129:R128H	.	R	-	2	0	TRIM29	119513567	0.902000	0.30710	1.000000	0.80357	0.350000	0.29205	1.191000	0.32138	2.423000	0.82170	0.563000	0.77884	CGC		0.637	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		45	130	0	0	0	1	0	45	130				
XRN1	54464	broad.mit.edu	37	3	142137378	142137378	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142137378G>A	ENST00000264951.4	-	12	1431	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	XRN1_ENST00000463916.1_Silent_p.Y438Y|XRN1_ENST00000392981.2_Silent_p.Y438Y|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000544157.1_Silent_p.Y228Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	438					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTTCGTCATGTAATATGTTC	0.303																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1312-1314)taC>taT		5'-3' exoribonuclease 1							151.0	149.0	149.0					3																	142137378		2203	4298	6501	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142137378G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1314C>T	3.37:g.142137378G>A						XRN1_ENST00000392981.2_Silent_p.Y438Y|XRN1_ENST00000463916.1_Silent_p.Y438Y|XRN1_ENST00000544157.1_Silent_p.Y228Y	p.Y438Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			12	1431	-			438					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.1314C>T	CCDS3123.1																																																																																				0.303	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		6	54	0	0	0	1	0	6	54				
PTK6	5753	broad.mit.edu	37	20	62163964	62163964	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62163964C>T	ENST00000217185.2	-	5	774	c.747G>A	c.(745-747)gcG>gcA	p.A249A	PTK6_ENST00000542869.1_Silent_p.A148A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CGGCGTACAGCGCCAGGATGT	0.652																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(745-747)gcG>gcA		protein tyrosine kinase 6							118.0	95.0	103.0					20																	62163964		2203	4300	6503	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62163964C>T	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.747G>A	20.37:g.62163964C>T						PTK6_ENST00000542869.1_Silent_p.A148A	p.A249A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		5	774	-	all_cancers(38;2.51e-11)		249			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.747G>A	CCDS13524.1																																																																																				0.652	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			19	26	0	0	0	1	0	19	26				
TUBBP1	92755	broad.mit.edu	37	8	30209642	30209642	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30209642G>T	ENST00000518096.1	+	0	254									tubulin, beta pseudogene 1																		CACGGGGACAGCGACCTGCAG	0.567																																						ENST00000518096.1																			0																																																			0							g.chr8:30209642G>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209642G>T														0	254	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.567	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		18	35	1	0	5.01169e-05	1	5.15048e-05	18	35				
FBLIM1	54751	broad.mit.edu	37	1	16101296	16101296	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16101296G>A	ENST00000375766.3	+	7	1530				FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E299K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTACAGGTACGAGAAGGGTTT	0.612																																						ENST00000441801.2																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(895-897)Gag>Aag		filamin binding LIM protein 1							92.0	91.0	91.0					1																	16101296		2203	4300	6503	SO:0001627	intron_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16101296G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.890+5G>A	1.37:g.16101296G>A						FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375766.3_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000332305.5_Intron	p.E299K	NM_001024215.1	NP_001019386.1	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	6	1102	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	299			LIM zinc-binding 2.|PLEKHC1-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Missense_Mutation	SNP	ENST00000375766.3	37	c.895G>A	CCDS163.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750942	0.31046	.	.	ENSG00000162458	ENST00000441801	T	0.58358	0.34	5.06	0.848	0.18966	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.09310	N	1	P	0.36183	0.542	B	0.26770	0.073	T	0.07616	-1.0763	7	.	.	.	.	8.3482	0.32286	0.3394:0.0:0.6606:0.0	.	299	Q8WUP2-2	.	K	299	ENSP00000416387:E299K	.	E	+	1	0	FBLIM1	15973883	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.018000	0.12568	0.270000	0.21984	0.655000	0.94253	GAG		0.612	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		23	38	0	0	0	1	0	23	38				
GPD1L	23171	broad.mit.edu	37	3	32180128	32180128	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32180128T>C	ENST00000282541.5	+	3	476	c.275T>C	c.(274-276)gTg>gCg	p.V92A		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	92					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						GACCTGCTGGTGTTTGTCATT	0.493																																						ENST00000282541.5																			0				large_intestine(4)|lung(7)|ovary(1)	12						c.(274-276)gTg>gCg		glycerol-3-phosphate dehydrogenase 1-like							163.0	152.0	156.0					3																	32180128		2203	4300	6503	SO:0001583	missense	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32180128T>C	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.275T>C	3.37:g.32180128T>C	ENSP00000282541:p.Val92Ala						p.V92A	NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN			3	476	+			92					A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	c.275T>C	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	T	33	5.223296	0.95139	.	.	ENSG00000152642	ENST00000429432;ENST00000282541;ENST00000431009	T;T;T	0.65549	-0.16;-0.16;-0.16	5.63	5.63	0.86233	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.054228	0.64402	D	0.000001	T	0.81351	0.4804	M	0.92970	3.365	0.80722	D	1	P	0.35208	0.49	P	0.50049	0.629	D	0.84403	0.0561	10	0.87932	D	0	-35.7938	16.1325	0.81454	0.0:0.0:0.0:1.0	.	92	Q8N335	GPD1L_HUMAN	A	53;92;53	ENSP00000393861:V53A;ENSP00000282541:V92A;ENSP00000416518:V53A	ENSP00000282541:V92A	V	+	2	0	GPD1L	32155132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.908000	0.87438	2.274000	0.75844	0.533000	0.62120	GTG		0.493	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		40	49	0	0	0	1	0	40	49				
UBN2	254048	broad.mit.edu	37	7	138936733	138936733	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138936733G>T	ENST00000473989.3	+	3	593	c.593G>T	c.(592-594)cGg>cTg	p.R198L	UBN2_ENST00000288561.8_Missense_Mutation_p.R115L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	198						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CGGAAGGATCGGCTACAAGAT	0.383																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(343-345)cGg>cTg		ubinuclein 2							113.0	113.0	113.0					7																	138936733		1835	4083	5918	SO:0001583	missense	254048							g.chr7:138936733G>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.593G>T	7.37:g.138936733G>T	ENSP00000418648:p.Arg198Leu					UBN2_ENST00000473989.2_Missense_Mutation_p.R198L	p.R115L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			3	593	+			198			Pro-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.344G>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884976	0.91814	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.41400	1.03;1.0	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.71206	2.165	0.58432	D	0.999995	B	0.21225	0.053	B	0.17722	0.019	T	0.49263	-0.8958	10	0.72032	D	0.01	-9.4018	15.2875	0.73838	0.0:0.0:0.8591:0.1409	.	198	Q6ZU65	UBN2_HUMAN	L	21;198;115	ENSP00000418648:R198L;ENSP00000288561:R115L	ENSP00000288561:R115L	R	+	2	0	UBN2	138587273	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.852000	0.92215	1.392000	0.46585	0.655000	0.94253	CGG		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		32	33	1	0	2.87052e-16	1	3.15041e-16	32	33				
ALDH6A1	4329	broad.mit.edu	37	14	74534170	74534170	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74534170C>T	ENST00000553458.1	-	8	1053	c.955G>A	c.(955-957)Gct>Act	p.A319T	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.A36T|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A306T	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	319					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GTTGAAAGAGCCATGCAGCGC	0.527																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(955-957)Gct>Act		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						77.0	74.0	75.0					14																	74534170		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534170C>T	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.955G>A	14.37:g.74534170C>T	ENSP00000450436:p.Ala319Thr					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A306T|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.A36T	p.A319T	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	8	1053	-			319					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.955G>A	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279808	0.95489	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.93426	-3.22;-3.22;-3.22	5.41	4.5	0.54988	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97932	0.9320	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98380	1.0558	10	0.87932	D	0	.	14.7281	0.69360	0.0:0.9293:0.0:0.0707	.	306;319	B4DFS8;Q02252	.;MMSA_HUMAN	T	319;306;36	ENSP00000450436:A319T;ENSP00000342564:A306T;ENSP00000452081:A36T	ENSP00000342564:A319T	A	-	1	0	ALDH6A1	73603923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.914000	0.69964	2.814000	0.96858	0.591000	0.81541	GCT		0.527	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			34	57	0	0	0	1	0	34	57				
HIST1H1T	3010	broad.mit.edu	37	6	26107855	26107855	+	Missense_Mutation	SNP	G	G	A	rs371913646		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26107855G>A	ENST00000338379.4	-	1	509	c.467C>T	c.(466-468)cCg>cTg	p.P156L		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	156					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGTCGCTCTCGGCTTCTTGGC	0.488																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(466-468)cCg>cTg		histone cluster 1, H1t		G	LEU/PRO	1,4405		0,1,2202	131.0	122.0	125.0		467	2.0	0.0	6		125	0,8600		0,0,4300	no	missense	HIST1H1T	NM_005323.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	156/208	26107855	1,13005	2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107855G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.467C>T	6.37:g.26107855G>A	ENSP00000341214:p.Pro156Leu						p.P156L	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	509	-			156					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.467C>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859805	0.32884	2.27E-4	0.0	ENSG00000187475	ENST00000338379	T	0.06449	3.3	5.08	2.03	0.26663	.	0.216848	0.39407	N	0.001380	T	0.01124	0.0037	N	0.08118	0	0.25243	N	0.989735	D	0.60160	0.987	B	0.40165	0.321	T	0.49661	-0.8916	10	0.66056	D	0.02	-3.1975	8.9592	0.35836	0.0:0.1721:0.5327:0.2953	.	156	P22492	H1T_HUMAN	L	156	ENSP00000341214:P156L	ENSP00000341214:P156L	P	-	2	0	HIST1H1T	26215834	0.028000	0.19301	0.002000	0.10522	0.050000	0.14768	0.235000	0.17948	0.183000	0.20059	0.655000	0.94253	CCG		0.488	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		49	67	0	0	0	1	0	49	67				
ZNF496	84838	broad.mit.edu	37	1	247492667	247492667	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247492667G>A	ENST00000294753.4	-	3	678	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R72W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTCTCAGGCCGCAGCCAGCCC	0.706																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(214-216)Cgg>Tgg		zinc finger protein 496							20.0	24.0	23.0					1																	247492667		2203	4299	6502	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492667G>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.214C>T	1.37:g.247492667G>A	ENSP00000294753:p.Arg72Trp					ZNF496_ENST00000366498.2_Missense_Mutation_p.R72W	p.R72W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	678	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		72			SCAN box.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.214C>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436041	0.62955	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06608	3.28;3.28	4.27	0.902	0.19290	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45867	D	0.000327	T	0.32315	0.0825	H	0.97365	3.99	0.27157	N	0.961267	D;D	0.89917	0.999;1.0	D;D	0.67231	0.928;0.95	T	0.27054	-1.0085	9	.	.	.	-29.6142	9.6773	0.40047	0.0:0.0:0.3892:0.6108	.	72;72	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	72	ENSP00000294753:R72W;ENSP00000355454:R72W	.	R	-	1	2	ZNF496	245559290	0.858000	0.29795	0.689000	0.30133	0.986000	0.74619	-0.211000	0.09332	0.472000	0.27344	0.561000	0.74099	CGG		0.706	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		14	14	0	0	0	1	0	14	14				
LPAL2	80350	broad.mit.edu	37	6	160908419	160908419	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160908419G>A	ENST00000335388.5	-	0	553					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AACACCAAGGGCCTGCCGAAC	0.478																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															102.0	91.0	95.0					6																	160908419		2203	4300	6503			0							g.chr6:160908419G>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908419G>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	553	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.478	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		25	38	0	0	0	1	0	25	38				
DNAAF1	123872	broad.mit.edu	37	16	84203510	84203510	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84203510C>T	ENST00000378553.5	+	8	1200	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DNAAF1_ENST00000334315.5_Missense_Mutation_p.A359V|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	359					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCGCCAGTGCGGAAGGCAAG	0.537																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1075-1077)gCg>gTg		dynein, axonemal, assembly factor 1							69.0	73.0	71.0					16																	84203510		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203510C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1076C>T	16.37:g.84203510C>T	ENSP00000367815:p.Ala359Val					DNAAF1_ENST00000334315.5_Missense_Mutation_p.A359V|DNAAF1_ENST00000563818.1_3'UTR	p.A359V	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1200	+			359					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1076C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	0.476	-0.882217	0.02530	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.32272	1.46;1.83	4.8	-9.6	0.00553	.	4.269700	0.00567	N	0.000296	T	0.06781	0.0173	N	0.00538	-1.39	0.09310	N	1	B;B	0.23540	0.087;0.005	B;B	0.11329	0.006;0.001	T	0.25676	-1.0125	10	0.21014	T	0.42	-0.0041	3.0947	0.06305	0.4973:0.2204:0.0759:0.2064	.	123;359	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	V	359	ENSP00000334593:A359V;ENSP00000367815:A359V	ENSP00000334593:A359V	A	+	2	0	DNAAF1	82761011	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.262000	0.02852	-5.093000	0.00022	-2.896000	0.00094	GCG		0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		14	32	0	0	0	1	0	14	32				
LRRC66	339977	broad.mit.edu	37	4	52861456	52861456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52861456G>A	ENST00000343457.3	-	4	1738	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	578						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAGAGGGAAGGGTCTAATTCA	0.502																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1732-1734)Cct>Tct		leucine rich repeat containing 66							106.0	115.0	112.0					4																	52861456		2146	4281	6427	SO:0001583	missense	339977					integral to membrane		g.chr4:52861456G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1732C>T	4.37:g.52861456G>A	ENSP00000341944:p.Pro578Ser						p.P578S	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1738	-			578						Missense_Mutation	SNP	ENST00000343457.3	37	c.1732C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992322	0.18966	.	.	ENSG00000188993	ENST00000343457	T	0.26067	1.76	4.14	1.15	0.20763	.	0.447153	0.19272	N	0.118370	T	0.17959	0.0431	L	0.32530	0.975	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.09314	-1.0680	10	0.52906	T	0.07	0.0372	4.4474	0.11604	0.2092:0.3638:0.427:0.0	.	578	Q68CR7	LRC66_HUMAN	S	578	ENSP00000341944:P578S	ENSP00000341944:P578S	P	-	1	0	LRRC66	52556213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.148000	0.16224	0.487000	0.27698	-0.229000	0.12294	CCT		0.502	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		35	74	0	0	0	1	0	35	74				
FREM2	341640	broad.mit.edu	37	13	39263574	39263574	+	Missense_Mutation	SNP	G	G	A	rs201217034		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39263574G>A	ENST00000280481.7	+	1	2309	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	698					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGTGGATCGCCTCCCTCCG	0.557																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2092-2094)cGc>cAc		FRAS1 related extracellular matrix protein 2							75.0	72.0	73.0					13																	39263574		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263574G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2093G>A	13.37:g.39263574G>A	ENSP00000280481:p.Arg698His						p.R698H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2309	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	698					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2093G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728599	0.30593	.	.	ENSG00000150893	ENST00000280481	T	0.29397	1.57	5.97	5.13	0.70059	.	0.240072	0.40728	N	0.001038	T	0.30230	0.0758	M	0.63428	1.95	0.42561	D	0.993144	B	0.09022	0.002	B	0.06405	0.002	T	0.10200	-1.0640	10	0.42905	T	0.14	.	9.2921	0.37793	0.2128:0.0:0.7872:0.0	.	698	Q5SZK8	FREM2_HUMAN	H	698	ENSP00000280481:R698H	ENSP00000280481:R698H	R	+	2	0	FREM2	38161574	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.503000	0.60407	1.541000	0.49316	0.655000	0.94253	CGC		0.557	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		30	29	0	0	0	1	0	30	29				
CES2	8824	broad.mit.edu	37	16	66976084	66976084	+	Missense_Mutation	SNP	C	C	T	rs141601821		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66976084C>T	ENST00000317091.4	+	9	2390	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.A469V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	405					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ACCCTCCAAGCGCAGTTCCAG	0.537																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1405-1407)gCg>gTg		carboxylesterase 2		C	VAL/ALA,VAL/ALA	0,4400		0,0,2200	130.0	105.0	114.0		1406,1406	-1.6	0.0	16	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CES2	NM_003869.5,NM_198061.2	64,64	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	469/624,469/608	66976084	1,12999	2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976084C>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1406C>T	16.37:g.66976084C>T	ENSP00000317842:p.Ala469Val					CES2_ENST00000417689.1_Missense_Mutation_p.A469V	p.A469V	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	9	2390	+		Ovarian(137;0.0563)	405					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1406C>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317633	0.10845	0.0	1.16E-4	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.68025	-0.3;-0.3	5.12	-1.61	0.08399	Carboxylesterase, type B (1);	1.760750	0.02880	N	0.132739	T	0.47488	0.1448	N	0.21240	0.645	0.09310	N	1	B;B	0.23937	0.024;0.094	B;B	0.21708	0.036;0.036	T	0.12760	-1.0535	10	0.15499	T	0.54	.	3.6975	0.08369	0.2733:0.3178:0.0:0.4089	.	405;469	O00748;A8K367	EST2_HUMAN;.	V	469	ENSP00000394452:A469V;ENSP00000317842:A469V	ENSP00000317842:A469V	A	+	2	0	CES2	65533585	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	-2.581000	0.00906	-0.429000	0.07329	0.650000	0.86243	GCG		0.537	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		15	24	0	0	0	1	0	15	24				
DNAH5	1767	broad.mit.edu	37	5	13841860	13841860	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13841860C>T	ENST00000265104.4	-	33	5529	c.5425G>A	c.(5425-5427)Gca>Aca	p.A1809T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1809	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAATATTTGCGGCTGCCTGG	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5425-5427)Gca>Aca		dynein, axonemal, heavy chain 5							99.0	99.0	99.0					5																	13841860		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841860C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5425G>A	5.37:g.13841860C>T	ENSP00000265104:p.Ala1809Thr						p.A1809T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			33	5529	-	Lung NSC(4;0.00476)		1809			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5425G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	2.874	-0.233335	0.05983	.	.	ENSG00000039139	ENST00000265104	T	0.60920	0.15	5.92	0.606	0.17559	Dynein heavy chain, domain-2 (1);	0.987980	0.08273	N	0.971213	T	0.37758	0.1015	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21793	-1.0235	10	0.21540	T	0.41	.	4.8775	0.13664	0.1409:0.4334:0.0:0.4257	.	1809	Q8TE73	DYH5_HUMAN	T	1809	ENSP00000265104:A1809T	ENSP00000265104:A1809T	A	-	1	0	DNAH5	13894860	0.000000	0.05858	0.638000	0.29380	0.044000	0.14063	-0.159000	0.10056	0.421000	0.25980	-0.880000	0.02959	GCA		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		30	33	0	0	0	1	0	30	33				
ACKR2	1238	broad.mit.edu	37	3	42906501	42906501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42906501G>A	ENST00000422265.1	+	3	682	c.507G>A	c.(505-507)tgG>tgA	p.W169*	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Nonsense_Mutation_p.W169*|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Nonsense_Mutation_p.W169*|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	169					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCATAGTATGGGCTGTGTCCC	0.567																																						ENST00000422265.1																			0											c.(505-507)tgG>tgA		atypical chemokine receptor 2							73.0	74.0	74.0					3																	42906501		2203	4300	6503	SO:0001587	stop_gained	1238							g.chr3:42906501G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.507G>A	3.37:g.42906501G>A	ENSP00000416996:p.Trp169*					KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Nonsense_Mutation_p.W169*|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Nonsense_Mutation_p.W169*|ACKR2_ENST00000471537.1_Intron	p.W169*	NM_001296.4	NP_001287.2					3	682	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Nonsense_Mutation	SNP	ENST00000422265.1	37	c.507G>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507105	0.27036	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	.	.	.	4.49	4.49	0.54785	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9159	0.79517	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	.	W	+	3	0	CCBP2	42881505	1.000000	0.71417	0.853000	0.33588	0.022000	0.10575	9.257000	0.95545	2.335000	0.79485	0.563000	0.77884	TGG		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		7	80	0	0	0	1	0	7	80				
ZNF70	7621	broad.mit.edu	37	22	24086194	24086194	+	Silent	SNP	C	C	T	rs368570781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24086194C>T	ENST00000341976.3	-	2	1594	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GCTGGATCAGCGCAGAGCTGT	0.582																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1132-1134)gcG>gcA		zinc finger protein 70		C		0,4406		0,0,2203	104.0	92.0	96.0		1134	-6.3	0.0	22		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		378/447	24086194	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086194C>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1134G>A	22.37:g.24086194C>T							p.A378A	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1594	-			378						Silent	SNP	ENST00000341976.3	37	c.1134G>A	CCDS13812.1																																																																																				0.582	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		28	40	0	0	0	1	0	28	40				
PBOV1	59351	broad.mit.edu	37	6	138539134	138539134	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138539134C>T	ENST00000527246.2	-	1	493	c.399G>A	c.(397-399)caG>caA	p.Q133Q	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TTTATATGATCTGTGGATGTA	0.393																																						ENST00000527246.2																			0				endometrium(1)	1						c.(397-399)caG>caA		prostate and breast cancer overexpressed 1							94.0	96.0	95.0					6																	138539134		2203	4300	6503	SO:0001819	synonymous_variant	59351					cytoplasm|nucleus		g.chr6:138539134C>T	AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.399G>A	6.37:g.138539134C>T						KIAA1244_ENST00000251691.4_Intron	p.Q133Q	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)	1	493	-	Breast(32;0.135)		133						Silent	SNP	ENST00000527246.2	37	c.399G>A	CCDS5190.1																																																																																				0.393	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392617.1	NM_021635		24	28	0	0	0	1	0	24	28				
MYF5	4617	broad.mit.edu	37	12	81111197	81111197	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:81111197C>T	ENST00000228644.3	+	1	507	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGAGGCTGCCCAAGGTGGA	0.587																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(355-357)Ccc>Tcc		myogenic factor 5							80.0	77.0	78.0					12																	81111197		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111197C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.355C>T	12.37:g.81111197C>T	ENSP00000228644:p.Pro119Ser						p.P119S	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	507	+			119			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.355C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101529	0.94245	.	.	ENSG00000111049	ENST00000228644	D	0.96200	-3.94	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95392	0.8504	N	0.12611	0.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95585	0.8650	10	0.46703	T	0.11	-8.3696	20.6208	0.99490	0.0:1.0:0.0:0.0	.	119	P13349	MYF5_HUMAN	S	119	ENSP00000228644:P119S	ENSP00000228644:P119S	P	+	1	0	MYF5	79635328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	CCC		0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		23	28	0	0	0	1	0	23	28				
ZNF462	58499	broad.mit.edu	37	9	109691436	109691436	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:109691436C>T	ENST00000277225.5	+	3	5532	c.5243C>T	c.(5242-5244)cCg>cTg	p.P1748L	ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1748					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCCCATCCCCGCCCAAGGAC	0.567																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5242-5244)cCg>cTg		zinc finger protein 462							106.0	87.0	93.0					9																	109691436		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691436C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5243C>T	9.37:g.109691436C>T	ENSP00000277225:p.Pro1748Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L	p.P1748L			Q96JM2	ZN462_HUMAN			3	5532	+			1748					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5243C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890472	0.72524	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06768	3.26;3.69;3.74;3.81	6.08	6.08	0.98989	.	0.103096	0.64402	D	0.000002	T	0.13756	0.0333	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.992	P;P	0.56751	0.805;0.644	T	0.08229	-1.0732	10	0.40728	T	0.16	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1748;1748	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1748;1748;631;593	ENSP00000277225:P1748L;ENSP00000414570:P1748L;ENSP00000363818:P631L;ENSP00000397306:P593L	ENSP00000277225:P1748L	P	+	2	0	ZNF462	108731257	0.988000	0.35896	0.915000	0.36163	0.953000	0.61014	5.545000	0.67237	2.894000	0.99253	0.591000	0.81541	CCG		0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	30	0	0	0	1	0	4	30				
SLC6A4	6532	broad.mit.edu	37	17	28548969	28548969	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28548969G>A	ENST00000401766.2	-	2	520	c.8C>T	c.(7-9)aCg>aTg	p.T3M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T3M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	3					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CAAGGGCGTCGTCTCCATCCT	0.502																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(7-9)aCg>aTg		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						53.0	47.0	49.0					17																	28548969		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548969G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.8C>T	17.37:g.28548969G>A	ENSP00000385822:p.Thr3Met					SLC6A4_ENST00000261707.3_Missense_Mutation_p.T3M	p.T3M			P31645	SC6A4_HUMAN			2	520	-			3					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.8C>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116490	0.20795	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.75477	-0.94;-0.94	5.96	3.93	0.45458	.	1.112970	0.06543	N	0.743643	T	0.58566	0.2131	N	0.19112	0.55	0.22811	N	0.998705	P	0.39131	0.661	B	0.33454	0.164	T	0.52726	-0.8537	10	0.87932	D	0	.	5.9394	0.19184	0.0696:0.251:0.5499:0.1294	.	3	P31645	SC6A4_HUMAN	M	45;3;3	ENSP00000385822:T3M;ENSP00000261707:T3M	ENSP00000261707:T3M	T	-	2	0	SLC6A4	25573095	0.953000	0.32496	0.179000	0.23059	0.098000	0.18820	1.341000	0.33907	0.811000	0.34303	0.655000	0.94253	ACG		0.502	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		11	37	0	0	0	1	0	11	37				
DNAH6	1768	broad.mit.edu	37	2	84811192	84811192	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:84811192C>T	ENST00000237449.6	+	14	2307	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	DNAH6_ENST00000389394.3_Missense_Mutation_p.P767S|DNAH6_ENST00000398278.2_Missense_Mutation_p.P767S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	767	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATATCAGGTGCCCACACCTCC	0.393																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2299-2301)Ccc>Tcc		dynein, axonemal, heavy chain 6							175.0	167.0	170.0					2																	84811192		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811192C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2299C>T	2.37:g.84811192C>T	ENSP00000237449:p.Pro767Ser					DNAH6_ENST00000237449.6_Missense_Mutation_p.P767S|DNAH6_ENST00000398278.2_Missense_Mutation_p.P767S	p.P767S	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			15	2436	+			767			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2299C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433184	0.43224	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;1.98;1.87	5.73	3.85	0.44370	.	0.166626	0.28659	N	0.014578	T	0.43678	0.1258	M	0.66939	2.045	0.35625	D	0.809759	B;P	0.51653	0.194;0.947	B;P	0.57009	0.097;0.811	T	0.56141	-0.8028	10	0.46703	T	0.11	.	15.0581	0.71930	0.0:0.7299:0.2701:0.0	.	767;346	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	S	767	ENSP00000374045:P767S;ENSP00000381326:P767S;ENSP00000237449:P767S	ENSP00000237449:P767S	P	+	1	0	DNAH6	84664703	0.376000	0.25098	0.819000	0.32651	0.361000	0.29550	2.576000	0.46033	0.690000	0.31570	0.591000	0.81541	CCC		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		32	48	0	0	0	1	0	32	48				
NAA20	51126	broad.mit.edu	37	20	20007509	20007509	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20007509G>A	ENST00000334982.4	+	4	532	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	NAA20_ENST00000398602.2_Missense_Mutation_p.R72Q|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.R84Q	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	84	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.R84Q(1)		endometrium(3)|lung(2)|prostate(1)	6						CCAGAATTTCGACGCCTTGGT	0.448																																						ENST00000398602.2																			1	Substitution - Missense(1)	p.R84Q(1)	endometrium(1)	endometrium(3)|lung(2)|prostate(1)	6						c.(214-216)cGa>cAa		N(alpha)-acetyltransferase 20, NatB catalytic subunit							192.0	173.0	179.0					20																	20007509		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007509G>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.251G>A	20.37:g.20007509G>A	ENSP00000335636:p.Arg84Gln					NAA20_ENST00000310450.4_Missense_Mutation_p.R84Q|NAA20_ENST00000334982.4_Missense_Mutation_p.R84Q|NAA20_ENST00000484480.1_3'UTR	p.R72Q	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			4	850	+			84			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.215G>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503034	0.96371	.	.	ENSG00000173418	ENST00000334982;ENST00000310450;ENST00000398602	T;T;T	0.33216	1.42;1.42;1.42	5.37	5.37	0.77165	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.059447	0.64402	N	0.000003	T	0.57975	0.2090	M	0.80847	2.515	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	D;P;D	0.67548	0.923;0.84;0.952	T	0.60424	-0.7266	9	.	.	.	-11.6391	17.8745	0.88821	0.0:0.0:1.0:0.0	.	72;84;84	A8MZB2;A6NHA3;P61599	.;.;NAA20_HUMAN	Q	84;84;72	ENSP00000335636:R84Q;ENSP00000311027:R84Q;ENSP00000381603:R72Q	.	R	+	2	0	NAA20	19955509	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.000000	0.88501	2.521000	0.84997	0.655000	0.94253	CGA		0.448	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		54	48	0	0	0	1	0	54	48				
PER1	5187	broad.mit.edu	37	17	8049394	8049394	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8049394T>C	ENST00000317276.4	-	17	2337	c.2100A>G	c.(2098-2100)ggA>ggG	p.G700G	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.G684G|PER1_ENST00000581082.1_Silent_p.G680G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	700	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCAGGGTGCCTCCCACCACTG	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2098-2100)ggA>ggG	Other conserved DNA damage response genes	period circadian clock 1							54.0	49.0	51.0					17																	8049394		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049394T>C	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2100A>G	17.37:g.8049394T>C						PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.G684G|PER1_ENST00000581082.1_Silent_p.G680G	p.G700G	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			17	2337	-			700			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2100A>G	CCDS11131.1																																																																																				0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			19	28	0	0	0	1	0	19	28				
ARHGAP26	23092	broad.mit.edu	37	5	142311642	142311642	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:142311642G>A	ENST00000274498.4	+	11	1437	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	ARHGAP26_ENST00000378004.3_Silent_p.S353S	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	353	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCTTTGTCGGAAGAGGACC	0.502																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1057-1059)tcG>tcA		Rho GTPase activating protein 26							120.0	118.0	119.0					5																	142311642		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142311642G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1059G>A	5.37:g.142311642G>A						ARHGAP26_ENST00000274498.4_Silent_p.S353S	p.S353S	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1414	+		all_hematologic(541;0.0416)	353			PH.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.1059G>A	CCDS4277.1																																																																																				0.502	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		19	36	0	0	0	1	0	19	36				
NELL2	4753	broad.mit.edu	37	12	45169828	45169828	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45169828C>T	ENST00000429094.2	-	8	1372	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	NELL2_ENST00000437801.2_Missense_Mutation_p.G340S|NELL2_ENST00000549027.1_Missense_Mutation_p.G289S|NELL2_ENST00000551601.1_Missense_Mutation_p.G289S|NELL2_ENST00000452445.2_Missense_Mutation_p.G290S|NELL2_ENST00000333837.4_Missense_Mutation_p.G313S|NELL2_ENST00000395487.2_Missense_Mutation_p.G289S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	290	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCTTACAGCCGTCTATCCAG	0.418																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(868-870)Ggc>Agc		NEL-like 2 (chicken)							138.0	123.0	128.0					12																	45169828		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169828C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.868G>A	12.37:g.45169828C>T	ENSP00000390680:p.Gly290Ser					NELL2_ENST00000452445.2_Missense_Mutation_p.G290S|NELL2_ENST00000437801.2_Missense_Mutation_p.G340S|NELL2_ENST00000395487.2_Missense_Mutation_p.G289S|NELL2_ENST00000333837.4_Missense_Mutation_p.G313S|NELL2_ENST00000549027.1_Missense_Mutation_p.G289S|NELL2_ENST00000551601.1_Missense_Mutation_p.G289S	p.G290S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1372	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	290			VWFC 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.868G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487626	0.96323	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.31	5.31	0.75309	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	L	0.37850	1.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.99;0.985;0.999;0.991;0.99	T	0.73610	-0.3928	10	0.52906	T	0.07	-24.2337	19.3459	0.94362	0.0:1.0:0.0:0.0	.	313;340;289;290;290;289	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	289;290;289;290;289;313;340;289;63;290	ENSP00000378866:G289S;ENSP00000390680:G290S;ENSP00000449332:G289S;ENSP00000394612:G290S;ENSP00000447927:G289S;ENSP00000327988:G313S;ENSP00000416341:G340S;ENSP00000450102:G63S;ENSP00000447085:G290S	ENSP00000327988:G313S	G	-	1	0	NELL2	43456095	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.442000	0.80503	2.645000	0.89757	0.650000	0.86243	GGC		0.418	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		11	21	0	0	0	1	0	11	21				
SIMC1	375484	broad.mit.edu	37	5	175722173	175722173	+	Silent	SNP	C	C	T	rs573337112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175722173C>T	ENST00000443967.1	+	5	1922	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	SIMC1_ENST00000341199.6_Silent_p.I90I|SIMC1_ENST00000430704.2_Silent_p.I90I|SIMC1_ENST00000429602.2_Silent_p.I524I			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	505							SUMO polymer binding (GO:0032184)										CAAGAGAAATCGTGGCTCACA	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		16216	0.0		0.001	False		,,,				2504	0.0					ENST00000443967.1																			0											c.(1513-1515)atC>atT		SUMO-interacting motifs containing 1							34.0	34.0	34.0					5																	175722173		2201	4296	6497	SO:0001819	synonymous_variant	375484							g.chr5:175722173C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1515C>T	5.37:g.175722173C>T						SIMC1_ENST00000429602.2_Silent_p.I524I|SIMC1_ENST00000430704.2_Silent_p.I90I|SIMC1_ENST00000341199.6_Silent_p.I90I	p.I505I							5	1922	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.1515C>T																																																																																					0.433	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		21	32	0	0	0	1	0	21	32				
PRKCQ	5588	broad.mit.edu	37	10	6540483	6540483	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:6540483G>T	ENST00000263125.5	-	5	516	c.417C>A	c.(415-417)ttC>ttA	p.F139L	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F139L|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F14L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	139					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GCAAAGCAAAGAAGCCTTCCG	0.502																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(415-417)ttC>ttA		protein kinase C, theta							190.0	158.0	169.0					10																	6540483		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6540483G>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.417C>A	10.37:g.6540483G>T	ENSP00000263125:p.Phe139Leu					PRKCQ_ENST00000397176.2_Missense_Mutation_p.F139L|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F14L	p.F139L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			5	516	-			139					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.417C>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	2.956	-0.215662	0.06101	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.66995	-0.24;-0.19;-0.21	5.62	4.71	0.59529	.	0.151699	0.50627	D	0.000102	T	0.48040	0.1478	L	0.34521	1.04	0.30636	N	0.756998	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.08055	0.001;0.003;0.003	T	0.41161	-0.9524	10	0.10902	T	0.67	.	6.095	0.20015	0.1798:0.0:0.6697:0.1505	.	14;139;139	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	L	139;139;14	ENSP00000263125:F139L;ENSP00000380361:F139L;ENSP00000441752:F14L	ENSP00000263125:F139L	F	-	3	2	PRKCQ	6580489	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	2.169000	0.42434	1.346000	0.45694	-0.181000	0.13052	TTC		0.502	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		10	23	1	0	0.000442599	1	0.000451009	10	23				
GON4L	54856	broad.mit.edu	37	1	155734786	155734786	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155734786C>T	ENST00000368331.1	-	21	4522				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Missense_Mutation_p.R1493K|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTCCAGCTCTCACCTGGAG	0.433																																						ENST00000361040.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4477-4479)aGa>aAa		gon-4-like (C. elegans)							73.0	67.0	69.0					1																	155734786		2203	4300	6503	SO:0001627	intron_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734786C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4473+4G>A	1.37:g.155734786C>T						GON4L_ENST00000271883.5_Intron|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000471341.1_5'UTR	p.R1493K	NM_032292.4	NP_115668.4	Q3T8J9	GON4L_HUMAN			21	4549	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		0			Glu-rich.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4478G>A		.	.	.	.	.	.	.	.	.	.	C	18.71	3.683153	0.68157	.	.	ENSG00000116580	ENST00000361040	T	0.13307	2.6	5.03	5.03	0.67393	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.80722	D	1	B	0.32467	0.372	B	0.30855	0.121	T	0.30534	-0.9975	9	0.87932	D	0	.	12.6465	0.56738	0.0:0.9197:0.0:0.0803	.	1493	Q3T8J9-2	.	K	1493	ENSP00000354322:R1493K	ENSP00000354322:R1493K	R	-	2	0	GON4L	154001410	0.029000	0.19370	0.866000	0.34008	0.868000	0.49771	0.575000	0.23729	2.630000	0.89119	0.650000	0.86243	AGA		0.433	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		19	34	0	0	0	1	0	19	34				
CAMSAP1	157922	broad.mit.edu	37	9	138742168	138742168	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138742168C>A	ENST00000389532.4	-	6	1012	c.948G>T	c.(946-948)aaG>aaT	p.K316N	CAMSAP1_ENST00000312405.6_Splice_Site_p.K38N|CAMSAP1_ENST00000409386.3_Splice_Site_p.K327N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	316	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTTATTACCTTCAACACTA	0.318																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.e6+1		calmodulin regulated spectrin-associated protein 1							72.0	77.0	75.0					9																	138742168		2203	4300	6503	SO:0001630	splice_region_variant	157922					cytoplasm|microtubule		g.chr9:138742168C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.948+1G>T	9.37:g.138742168C>A						CAMSAP1_ENST00000409386.3_Splice_Site_p.K327_splice|CAMSAP1_ENST00000312405.6_Splice_Site_p.K38_splice	p.K316_splice	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	6	1012	-			316			CH.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Splice_Site	SNP	ENST00000389532.4	37	c.948_splice	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977580	0.92982	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95788	-3.81;-3.81;1.62	5.57	5.57	0.84162	Calponin homology domain (2);	0.092609	0.64402	D	0.000001	D	0.97801	0.9278	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97501	1.0060	9	.	.	.	-3.7611	19.9147	0.97053	0.0:1.0:0.0:0.0	.	316;327	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	316;38;327	ENSP00000374183:K316N;ENSP00000312463:K38N;ENSP00000386420:K327N	.	K	-	3	2	CAMSAP1	137881989	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.250000	0.78287	2.775000	0.95449	0.655000	0.94253	AAG		0.318	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	Missense_Mutation	36	37	1	0	4.62619e-21	1	5.13336e-21	36	37				
SCMH1	22955	broad.mit.edu	37	1	41503052	41503052	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41503052G>A	ENST00000326197.7	-	12	1929	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	SCMH1_ENST00000361705.3_Missense_Mutation_p.R497C|SCMH1_ENST00000361191.5_Missense_Mutation_p.R483C|SCMH1_ENST00000397171.2_Missense_Mutation_p.R483C|SCMH1_ENST00000402904.2_Missense_Mutation_p.R544C|SCMH1_ENST00000456518.2_Missense_Mutation_p.R386C|SCMH1_ENST00000372595.1_Missense_Mutation_p.R483C|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372596.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372597.1_Missense_Mutation_p.R497C|SCMH1_ENST00000397174.2_Missense_Mutation_p.R524C|SCMH1_ENST00000337495.5_Missense_Mutation_p.R554C					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CATAGCCTGCGCACAGCTGAG	0.597																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1630-1632)Cgc>Tgc		sex comb on midleg homolog 1 (Drosophila)							143.0	127.0	132.0					1																	41503052		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41503052G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1630C>T	1.37:g.41503052G>A	ENSP00000318094:p.Arg544Cys					SCMH1_ENST00000456518.2_Missense_Mutation_p.R386C|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000397171.2_Missense_Mutation_p.R483C|SCMH1_ENST00000397174.2_Missense_Mutation_p.R524C|SCMH1_ENST00000372595.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372596.1_Missense_Mutation_p.R483C|SCMH1_ENST00000372597.1_Missense_Mutation_p.R497C|SCMH1_ENST00000361705.3_Missense_Mutation_p.R497C|SCMH1_ENST00000361191.5_Missense_Mutation_p.R483C|SCMH1_ENST00000337495.5_Missense_Mutation_p.R554C|SCMH1_ENST00000326197.7_Missense_Mutation_p.R544C	p.R544C	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			13	1998	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	544						Missense_Mutation	SNP	ENST00000326197.7	37	c.1630C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911244	0.52439	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.25579	2.12;1.79;2.15;2.12;2.13;2.13;2.12;2.13;2.12;2.14;2.15	4.18	4.18	0.49190	.	0.543585	0.18891	N	0.128314	T	0.21761	0.0524	N	0.24115	0.695	0.41386	D	0.987588	D;D;D;P	0.63880	0.978;0.993;0.987;0.624	B;P;P;B	0.47744	0.353;0.556;0.555;0.164	T	0.01108	-1.1449	10	0.56958	D	0.05	.	10.3369	0.43854	0.0:0.1997:0.8003:0.0	.	386;554;497;544	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	C	497;386;544;524;483;483;497;483;554;483;544	ENSP00000354996:R497C;ENSP00000403974:R386C;ENSP00000386079:R544C;ENSP00000380359:R524C;ENSP00000380356:R483C;ENSP00000354656:R483C;ENSP00000361678:R497C;ENSP00000361677:R483C;ENSP00000337352:R554C;ENSP00000361676:R483C;ENSP00000318094:R544C	ENSP00000318094:R544C	R	-	1	0	SCMH1	41275639	0.998000	0.40836	1.000000	0.80357	0.733000	0.41908	3.065000	0.49994	2.605000	0.88082	0.563000	0.77884	CGC		0.597	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			18	39	0	0	0	1	0	18	39				
CEP112	201134	broad.mit.edu	37	17	63898327	63898327	+	Silent	SNP	G	G	A	rs374621153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63898327G>A	ENST00000392769.2	-	20	2324	c.2106C>T	c.(2104-2106)cgC>cgT	p.R702R	CEP112_ENST00000541355.1_Silent_p.R337R|CEP112_ENST00000535342.2_Silent_p.R702R|CEP112_ENST00000537949.1_Silent_p.R660R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	702					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TATTGGCAGCGCGAAGCTGTT	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2104-2106)cgC>cgT		centrosomal protein 112kDa		G	,	0,4406		0,0,2203	155.0	131.0	139.0		2106,2106	5.6	1.0	17		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	702/956,702/956	63898327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63898327G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2106C>T	17.37:g.63898327G>A						CEP112_ENST00000541355.1_Silent_p.R337R|CEP112_ENST00000537949.1_Silent_p.R660R|CEP112_ENST00000535342.2_Silent_p.R702R	p.R702R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2324	-			702					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2106C>T	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		33	44	0	0	0	1	0	33	44				
PDE3A	5139	broad.mit.edu	37	12	20807127	20807127	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:20807127A>G	ENST00000359062.3	+	15	3212	c.3172A>G	c.(3172-3174)Aat>Gat	p.N1058D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1058	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGTGAAAATAATGAATCTCC	0.383																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3172-3174)Aat>Gat		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						94.0	97.0	96.0					12																	20807127		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807127A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3172A>G	12.37:g.20807127A>G	ENSP00000351957:p.Asn1058Asp					PDE3A_ENST00000544307.1_3'UTR	p.N1058D	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			15	3212	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1058			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3172A>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	8.653	0.898804	0.17686	.	.	ENSG00000172572	ENST00000359062	T	0.76968	-1.06	5.11	2.47	0.30058	.	1.583420	0.03387	N	0.201239	T	0.60248	0.2254	N	0.17723	0.515	0.09310	N	1	B	0.25007	0.116	B	0.18561	0.022	T	0.50250	-0.8850	10	0.09338	T	0.73	.	3.9206	0.09242	0.5478:0.1877:0.2645:0.0	.	1058	Q14432	PDE3A_HUMAN	D	1058	ENSP00000351957:N1058D	ENSP00000351957:N1058D	N	+	1	0	PDE3A	20698394	0.073000	0.21202	0.675000	0.29917	0.830000	0.47004	0.882000	0.28186	0.911000	0.36747	0.533000	0.62120	AAT		0.383	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	41	0	0	0	1	0	6	41				
TAF6	6878	broad.mit.edu	37	7	99711885	99711885	+	5'UTR	SNP	G	G	A	rs532589360	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99711885G>A	ENST00000344095.4	-	0	473				TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Missense_Mutation_p.P40L|TAF6_ENST00000437822.2_Missense_Mutation_p.P20L|TAF6_ENST00000497233.1_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000453269.2_5'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGAGAGACGGAGACCCTGG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.002					ENST00000472509.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(118-120)cCg>cTg		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa																																				SO:0001623	5_prime_UTR_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711885G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.-53C>T	7.37:g.99711885G>A						TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000497233.1_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.P20L|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000344095.4_5'UTR	p.P40L			P49848	TAF6_HUMAN			1	296	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		661					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.119C>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	0.673	-0.801191	0.02841	.	.	ENSG00000106290	ENST00000472509;ENST00000437822	T;T	0.47528	0.84;1.12	5.06	1.18	0.20946	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	8	0.02654	T	1	.	3.6785	0.08301	0.2774:0.0:0.5493:0.1733	.	20	B4DT11	.	L	40;20	ENSP00000419760:P40L;ENSP00000399982:P20L	ENSP00000399982:P20L	P	-	2	0	TAF6	99549821	0.739000	0.28196	0.002000	0.10522	0.062000	0.15995	0.583000	0.23849	0.258000	0.21686	-0.336000	0.08194	CCG		0.582	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		23	22	0	0	0	1	0	23	22				
FBXL7	23194	broad.mit.edu	37	5	15936788	15936788	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936788C>T	ENST00000504595.1	+	4	1450	c.969C>T	c.(967-969)tgC>tgT	p.C323C	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.C276C|FBXL7_ENST00000329673.7_Silent_p.C311C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	323					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGATCTACTGCGCCTCCATCA	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(967-969)tgC>tgT		F-box and leucine-rich repeat protein 7							30.0	33.0	32.0					5																	15936788		2186	4276	6462	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936788C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.969C>T	5.37:g.15936788C>T						FBXL7_ENST00000329673.7_Silent_p.C311C|FBXL7_ENST00000510662.1_Silent_p.C276C	p.C323C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1450	+			323					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.969C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	9	0	0	0	1	0	4	9				
NID1	4811	broad.mit.edu	37	1	236195715	236195715	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236195715C>A	ENST00000264187.6	-	6	1605	c.1523G>T	c.(1522-1524)gGg>gTg	p.G508V	NID1_ENST00000366595.3_Missense_Mutation_p.G508V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	508	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GATGCTGAACCCATTCTTGAA	0.507																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(1522-1524)gGg>gTg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						93.0	95.0	95.0					1																	236195715		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236195715C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1523G>T	1.37:g.236195715C>A	ENSP00000264187:p.Gly508Val					NID1_ENST00000366595.3_Missense_Mutation_p.G508V	p.G508V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		6	1605	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	508			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1523G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677795	0.88445	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.71698	-0.59;-0.59	5.73	5.73	0.89815	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.046338	0.85682	D	0.000000	D	0.87553	0.6206	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89066	0.3466	10	0.87932	D	0	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	508;508	P14543-2;P14543	.;NID1_HUMAN	V	508	ENSP00000264187:G508V;ENSP00000355554:G508V	ENSP00000264187:G508V	G	-	2	0	NID1	234262338	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	7.487000	0.81328	2.700000	0.92200	0.655000	0.94253	GGG		0.507	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		27	33	1	0	1.16021e-09	1	1.23406e-09	27	33				
OSBP2	23762	broad.mit.edu	37	22	31289530	31289530	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31289530G>A	ENST00000332585.6	+	10	2175	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	OSBP2_ENST00000535268.1_Missense_Mutation_p.V235M|OSBP2_ENST00000437268.2_Missense_Mutation_p.V433M|OSBP2_ENST00000401475.1_Missense_Mutation_p.V324M|OSBP2_ENST00000403222.3_Missense_Mutation_p.V525M|OSBP2_ENST00000446658.2_Missense_Mutation_p.V690M|OSBP2_ENST00000407373.1_Missense_Mutation_p.V518M|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.V642M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	691					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAACATCATCGTGGGCAAGCT	0.632																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2071-2073)Gtg>Atg		oxysterol binding protein 2							65.0	69.0	68.0					22																	31289530		2072	4213	6285	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31289530G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2071G>A	22.37:g.31289530G>A	ENSP00000332576:p.Val691Met					OSBP2_ENST00000382310.3_Missense_Mutation_p.V642M|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000407373.1_Missense_Mutation_p.V518M|OSBP2_ENST00000535268.1_Missense_Mutation_p.V235M|OSBP2_ENST00000401475.1_Missense_Mutation_p.V324M|OSBP2_ENST00000403222.3_Missense_Mutation_p.V525M|OSBP2_ENST00000446658.2_Missense_Mutation_p.V690M|OSBP2_ENST00000437268.2_Missense_Mutation_p.V433M	p.V691M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			10	2175	+			691					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2071G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.170324|5.170324	0.94768|0.94768	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000433183|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T;T;T	.|0.32515	.|1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57169|0.57169	0.2035|0.2035	M|M	0.70787|0.70787	2.145|2.145	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0;1.0;1.0;1.0	.|D;P;D;D;D;D;D	.|0.97110	.|0.996;0.906;0.999;0.998;0.999;1.0;1.0	T|T	0.59413|0.59413	-0.7459|-0.7459	5|10	.|0.72032	.|D	.|0.01	-40.1633|-40.1633	18.5207|18.5207	0.90951|0.90951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|433;642;525;433;518;690;691	.|F5H2A3;B4DFA8;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;.;OSBP2_HUMAN	H|M	28|525;518;691;642;690;324;433;235;322	.|ENSP00000384213:V525M;ENSP00000385237:V518M;ENSP00000332576:V691M;ENSP00000371747:V642M;ENSP00000392080:V690M;ENSP00000385254:V324M;ENSP00000389200:V433M;ENSP00000438713:V235M;ENSP00000409838:V322M	.|ENSP00000332576:V691M	R|V	+|+	2|1	0|0	OSBP2|OSBP2	29619530|29619530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.507000|6.507000	0.73717|0.73717	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.632	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		16	21	0	0	0	1	0	16	21				
C5	727	broad.mit.edu	37	9	123725196	123725196	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123725196C>T	ENST00000223642.1	-	35	4402	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1458					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AATAACATGTCCATCTTTGAT	0.338																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4372-4374)gGa>gAa		complement component 5	Eculizumab(DB01257)						186.0	184.0	185.0					9																	123725196		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725196C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4373G>A	9.37:g.123725196C>T	ENSP00000223642:p.Gly1458Glu						p.G1458E	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	35	4402	-			1458					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4373G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037943	0.75617	.	.	ENSG00000106804	ENST00000223642	T	0.33216	1.42	5.19	5.19	0.71726	Alpha-macroglobulin, receptor-binding (3);	0.233995	0.43747	D	0.000539	T	0.54303	0.1850	M	0.87827	2.91	0.43793	D	0.996332	D	0.60575	0.988	P	0.55749	0.783	T	0.58589	-0.7610	10	0.37606	T	0.19	.	16.5821	0.84717	0.0:1.0:0.0:0.0	.	1458	P01031	CO5_HUMAN	E	1458	ENSP00000223642:G1458E	ENSP00000223642:G1458E	G	-	2	0	C5	122765017	0.993000	0.37304	0.995000	0.50966	0.974000	0.67602	3.456000	0.53000	2.578000	0.87016	0.655000	0.94253	GGA		0.338	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		46	90	0	0	0	1	0	46	90				
RRP7A	27341	broad.mit.edu	37	22	42908986	42908986	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42908986C>T	ENST00000323013.6	-	7	788	c.773G>A	c.(772-774)cGc>cAc	p.R258H	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	258							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GAACTTCTTGCGCAGCTGCGC	0.657																																						ENST00000323013.6																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(772-774)cGc>cAc		ribosomal RNA processing 7 homolog A (S. cerevisiae)							41.0	34.0	37.0					22																	42908986		2203	4299	6502	SO:0001583	missense	27341						nucleotide binding|RNA binding	g.chr22:42908986C>T	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.773G>A	22.37:g.42908986C>T	ENSP00000321449:p.Arg258His						p.R258H	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN			7	788	-			258					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	c.773G>A	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.138844	0.56936	.	.	ENSG00000189306	ENST00000323013	T	0.27720	1.65	3.41	2.33	0.28932	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.92412	3.305	0.58432	D	0.999998	D;P	0.58970	0.984;0.819	P;B	0.49451	0.611;0.355	T	0.65944	-0.6045	10	0.87932	D	0	-17.5917	12.5633	0.56295	0.0:0.8304:0.1696:0.0	.	258;81	Q9Y3A4;Q9NSQ0	RRP7A_HUMAN;RRP7B_HUMAN	H	258	ENSP00000321449:R258H	ENSP00000321449:R258H	R	-	2	0	RRP7A	41238930	1.000000	0.71417	0.998000	0.56505	0.594000	0.36715	4.884000	0.63135	0.699000	0.31761	0.411000	0.27672	CGC		0.657	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		17	22	0	0	0	1	0	17	22				
DPY19L2	283417	broad.mit.edu	37	12	63964619	63964619	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:63964619G>A	ENST00000324472.4	-	20	2102	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	DPY19L2_ENST00000413230.2_Missense_Mutation_p.A87V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	640					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGTAGGCATGGCACCTGCAAA	0.368																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1918-1920)gCc>gTc		dpy-19-like 2 (C. elegans)							83.0	70.0	74.0					12																	63964619		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63964619G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1919C>T	12.37:g.63964619G>A	ENSP00000315988:p.Ala640Val					DPY19L2_ENST00000413230.2_Missense_Mutation_p.A87V	p.A640V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	20	2102	-			640					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1919C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140124	0.21205	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.57107	0.42;0.42	3.3	2.39	0.29439	.	0.118616	0.56097	D	0.000028	T	0.57577	0.2063	M	0.81802	2.56	0.43351	D	0.995416	P	0.41848	0.763	P	0.46208	0.507	T	0.56643	-0.7945	9	.	.	.	.	8.3317	0.32191	0.1231:0.0:0.8769:0.0	.	640	Q6NUT2	D19L2_HUMAN	V	640;87	ENSP00000315988:A640V;ENSP00000439794:A87V	.	A	-	2	0	DPY19L2	62250886	1.000000	0.71417	0.997000	0.53966	0.200000	0.23975	6.496000	0.73670	0.569000	0.29329	0.195000	0.17529	GCC		0.368	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		21	36	0	0	0	1	0	21	36				
DNMBP	23268	broad.mit.edu	37	10	101639889	101639889	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101639889C>T	ENST00000324109.4	-	16	4318	c.4227G>A	c.(4225-4227)ccG>ccA	p.P1409P	DNMBP_ENST00000540316.1_Silent_p.P345P|DNMBP_ENST00000342239.3_Silent_p.P1433P|DNMBP_ENST00000543621.1_Silent_p.P655P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATTCTTTTGGCGGAGGAGATG	0.547																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4297-4299)ccG>ccA		dynamin binding protein							189.0	186.0	187.0					10																	101639889		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639889C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4227G>A	10.37:g.101639889C>T						DNMBP_ENST00000324109.4_Silent_p.P1409P|DNMBP_ENST00000543621.1_Silent_p.P655P|DNMBP_ENST00000540316.1_Silent_p.P345P	p.P1433P			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4390	-		Colorectal(252;0.234)	1409			Ser-rich.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4299G>A	CCDS7485.1																																																																																				0.547	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		16	94	0	0	0	1	0	16	94				
MIB2	142678	broad.mit.edu	37	1	1562801	1562801	+	Silent	SNP	G	G	A	rs543582613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1562801G>A	ENST00000357210.4	+	12	1890	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	MIB2_ENST00000360522.4_Silent_p.T523T|MIB2_ENST00000378708.1_Silent_p.T464T|MIB2_ENST00000520777.1_Silent_p.T611T|MIB2_ENST00000505820.2_Silent_p.T615T|MIB2_ENST00000378710.3_Silent_p.T522T|MIB2_ENST00000355826.5_Silent_p.T601T|MIB2_ENST00000518681.1_Silent_p.T550T|MIB2_ENST00000504599.1_Silent_p.T514T|MIB2_ENST00000378712.1_Silent_p.T435T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	558					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T558T(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGCAACACGGCACTGCACT	0.736													.|||	1	0.000199681	0.0	0.0	5008	,	,		13683	0.001		0.0	False		,,,				2504	0.0					ENST00000357210.4																			1	Substitution - coding silent(1)	p.T558T(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(1672-1674)acG>acA		mindbomb E3 ubiquitin protein ligase 2							39.0	46.0	44.0					1																	1562801		2017	4160	6177	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1562801G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1674G>A	1.37:g.1562801G>A						MIB2_ENST00000504599.1_Silent_p.T514T|MIB2_ENST00000378712.1_Silent_p.T435T|MIB2_ENST00000520777.1_Silent_p.T611T|MIB2_ENST00000360522.4_Silent_p.T523T|MIB2_ENST00000378708.1_Silent_p.T464T|MIB2_ENST00000505820.2_Silent_p.T615T|MIB2_ENST00000378710.3_Silent_p.T522T|MIB2_ENST00000518681.1_Silent_p.T550T|MIB2_ENST00000355826.5_Silent_p.T601T	p.T558T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	1890	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	558					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.1674G>A		.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873122	0.02570	.	.	ENSG00000197530	ENST00000514234	.	.	.	4.44	-8.88	0.00789	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	-17.4196	0.4355	0.00478	0.2256:0.2541:0.2399:0.2804	.	.	.	.	S	374	.	.	G	+	1	0	MIB2	1552664	0.000000	0.05858	0.562000	0.28370	0.096000	0.18686	-3.435000	0.00472	-1.427000	0.01992	-1.872000	0.00552	GGC		0.736	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		18	23	0	0	0	1	0	18	23				
SRI	6717	broad.mit.edu	37	7	87846500	87846500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87846500G>A	ENST00000265729.2	-	3	194	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	SRI_ENST00000431660.1_Nonsense_Mutation_p.Q33*|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000419179.1_Nonsense_Mutation_p.Q48*|SRI_ENST00000490437.1_Nonsense_Mutation_p.Q5*|AC003991.3_ENST00000594469.1_RNA|SRI_ENST00000394641.3_Nonsense_Mutation_p.Q33*	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GCATCTATCTGCCCATCCTTT	0.353																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(142-144)Cag>Tag		sorcin							113.0	106.0	109.0					7																	87846500		2203	4300	6503	SO:0001587	stop_gained	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87846500G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.142C>T	7.37:g.87846500G>A	ENSP00000265729:p.Gln48*					SRI_ENST00000431660.1_Nonsense_Mutation_p.Q33*|CTB-167B5.1_ENST00000520993.1_RNA|SRI_ENST00000394641.3_Nonsense_Mutation_p.Q33*|SRI_ENST00000490437.1_Nonsense_Mutation_p.Q5*|SRI_ENST00000419179.1_Nonsense_Mutation_p.Q48*	p.Q48*	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			3	194	-	Esophageal squamous(14;0.00202)		48			EF-hand 1.		A8MTH6|B4DKK2|D6W5Q0	Nonsense_Mutation	SNP	ENST00000265729.2	37	c.142C>T	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629469	0.96671	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7685	0.96352	0.0:0.0:1.0:0.0	.	.	.	.	X	48;48;5;33;33	.	ENSP00000265729:Q48X	Q	-	1	0	SRI	87684436	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	6.270000	0.72563	2.677000	0.91161	0.650000	0.86243	CAG		0.353	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		20	36	0	0	0	1	0	20	36				
ITGA2	3673	broad.mit.edu	37	5	52344197	52344197	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52344197G>A	ENST00000296585.5	+	5	535	c.392G>A	c.(391-393)tGt>tAt	p.C131Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	131					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTGAAGACATGTGGTCCTCTG	0.423																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(391-393)tGt>tAt		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							133.0	129.0	131.0					5																	52344197		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52344197G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.392G>A	5.37:g.52344197G>A	ENSP00000296585:p.Cys131Tyr						p.C131Y	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			5	535	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	131					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.392G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400286	0.83120	.	.	ENSG00000164171	ENST00000296585	D	0.94330	-3.4	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98137	1.0434	10	0.87932	D	0	.	19.0607	0.93091	0.0:0.0:1.0:0.0	.	131;131	E7ESP4;P17301	.;ITA2_HUMAN	Y	131	ENSP00000296585:C131Y	ENSP00000296585:C131Y	C	+	2	0	ITGA2	52379954	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.447000	0.97595	2.487000	0.83934	0.563000	0.77884	TGT		0.423	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		20	19	0	0	0	1	0	20	19				
DNAJC18	202052	broad.mit.edu	37	5	138761897	138761897	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138761897G>T	ENST00000302060.5	-	4	603	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	175						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGTTGAACAGCTCTTCTGGA	0.408																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(523-525)Ctg>Atg		DnaJ (Hsp40) homolog, subfamily C, member 18							111.0	120.0	117.0					5																	138761897		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138761897G>T	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.523C>A	5.37:g.138761897G>T	ENSP00000302843:p.Leu175Met						p.L175M	NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	603	-			175						Missense_Mutation	SNP	ENST00000302060.5	37	c.523C>A	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266385	0.59540	.	.	ENSG00000170464	ENST00000302060;ENST00000508445;ENST00000515581	T;T;T	0.74002	-0.8;0.12;-0.53	5.5	1.35	0.21983	Heat shock protein DnaJ, N-terminal (1);	0.141138	0.48286	D	0.000194	T	0.65091	0.2658	L	0.48642	1.525	0.48185	D	0.999604	P	0.48694	0.914	P	0.46758	0.526	T	0.60073	-0.7334	10	0.48119	T	0.1	-1.2901	2.2892	0.04134	0.3281:0.128:0.4256:0.1183	.	175	Q9H819	DJC18_HUMAN	M	175;8;175	ENSP00000302843:L175M;ENSP00000426338:L8M;ENSP00000424572:L175M	ENSP00000302843:L175M	L	-	1	2	DNAJC18	138789796	1.000000	0.71417	0.838000	0.33150	0.738000	0.42128	2.892000	0.48625	0.275000	0.22094	0.563000	0.77884	CTG		0.408	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		26	54	1	0	5.45727e-16	1	5.98296e-16	26	54				
PADI6	353238	broad.mit.edu	37	1	17727705	17727705	+	RNA	SNP	G	G	A	rs369442107		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17727705G>A	ENST00000434762.2	+	0	1907							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TAACAGTTGCGGATGATTGTG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17685	0.0		0.0	False		,,,				2504	0.001					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)	G	GLN/ARG	1,3895		0,1,1947	52.0	56.0	54.0		1857	-0.8	0.1	1		54	1,8281		0,1,4140	no	missense	PADI6	NM_207421.3	43	0,2,6087	AA,AG,GG		0.0121,0.0257,0.0164	benign	619/695	17727705	2,12176	1948	4141	6089			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17727705G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727705G>A										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1907	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.582	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		16	15	0	0	0	1	0	16	15				
NACAP1	83955	broad.mit.edu	37	8	102381497	102381497	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:102381497G>A	ENST00000419462.1	+	0	909					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		TACCTACATGGTTTTTGGGGA	0.418																																						ENST00000419462.1																			0																																																			0							g.chr8:102381497G>A	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381497G>A								NR_002182.1						0	909	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.418	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		20	40	0	0	0	1	0	20	40				
KCNQ3	3786	broad.mit.edu	37	8	133150184	133150184	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:133150184A>G	ENST00000388996.4	-	12	2068	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Y430H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Y550H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	550					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGGCAGAATACTGCTCAATC	0.468																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1648-1650)Tat>Cat		potassium voltage-gated channel, KQT-like subfamily, member 3							159.0	144.0	149.0					8																	133150184		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150184A>G	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1648T>C	8.37:g.133150184A>G	ENSP00000373648:p.Tyr550His					KCNQ3_ENST00000519445.1_Missense_Mutation_p.Y550H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.Y430H	p.Y550H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2068	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		550					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1648T>C	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453336	0.84209	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99885	-7.51;-7.51;-7.51	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96093	0.9063	10	0.87932	D	0	-10.5331	15.0416	0.71796	1.0:0.0:0.0:0.0	.	550;550	E7ET42;O43525	.;KCNQ3_HUMAN	H	550;430;550;539;429	ENSP00000373648:Y550H;ENSP00000429799:Y430H;ENSP00000428790:Y550H	ENSP00000373648:Y550H	Y	-	1	0	KCNQ3	133219366	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.339000	0.96797	2.207000	0.71202	0.533000	0.62120	TAT		0.468	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		52	77	0	0	0	1	0	52	77				
CTR9	9646	broad.mit.edu	37	11	10794725	10794725	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10794725C>T	ENST00000361367.2	+	21	3058	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	878	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTTGGAACAGCGGGCCCAGTA	0.413																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2632-2634)Cgg>Tgg		CTR9, Paf1/RNA polymerase II complex component							91.0	94.0	93.0					11																	10794725		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10794725C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2632C>T	11.37:g.10794725C>T	ENSP00000355013:p.Arg878Trp						p.R878W	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	21	3058	+			878			Lys-rich.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2632C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153222	0.78114	.	.	ENSG00000198730	ENST00000361367	T	0.56611	0.45	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.88105	2.93	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	T	0.76080	-0.3090	10	0.87932	D	0	-14.0673	13.4006	0.60881	0.4282:0.5718:0.0:0.0	.	878	Q6PD62	CTR9_HUMAN	W	878	ENSP00000355013:R878W	ENSP00000355013:R878W	R	+	1	2	CTR9	10751301	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.213000	0.58520	1.505000	0.48720	0.591000	0.81541	CGG		0.413	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		25	34	0	0	0	1	0	25	34				
PPFIBP1	8496	broad.mit.edu	37	12	27835613	27835613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27835613C>T	ENST00000318304.8	+	23	2525	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R595*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R717*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R742*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	748	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGTTGATGGTCGAATGCTACA	0.453																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2242-2244)Cga>Tga		PTPRF interacting protein, binding protein 1 (liprin beta 1)							162.0	156.0	158.0					12																	27835613		2203	4300	6503	SO:0001587	stop_gained	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835613C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2242C>T	12.37:g.27835613C>T	ENSP00000314724:p.Arg748*					PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R742*|PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R595*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R717*	p.R748*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			23	2525	+	Lung SC(9;0.0873)		748			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Nonsense_Mutation	SNP	ENST00000318304.8	37	c.2242C>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495189	0.85069	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.	.	.	5.26	4.35	0.52113	.	0.000000	0.28754	U	0.014259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4327	12.5911	0.56443	0.3022:0.6978:0.0:0.0	.	.	.	.	X	579;595;748;717;742	.	ENSP00000228425:R742X	R	+	1	2	PPFIBP1	27726880	0.991000	0.36638	0.764000	0.31436	0.761000	0.43186	2.921000	0.48852	1.175000	0.42826	0.655000	0.94253	CGA		0.453	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		42	49	0	0	0	1	0	42	49				
MAP7	9053	broad.mit.edu	37	6	136683812	136683812	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136683812G>T	ENST00000354570.3	-	11	1712	c.1302C>A	c.(1300-1302)gcC>gcA	p.A434A	MAP7_ENST00000454590.1_Silent_p.A456A|MAP7_ENST00000432797.2_Silent_p.A288A|MAP7_ENST00000438100.2_Silent_p.A419A|MAP7_ENST00000544465.1_Silent_p.A419A|RP3-406A7.3_ENST00000571188.1_RNA	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	434	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ctggggccgaggctggagctg	0.572																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1300-1302)gcC>gcA		microtubule-associated protein 7							12.0	15.0	14.0					6																	136683812		2202	4291	6493	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136683812G>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1302C>A	6.37:g.136683812G>T						MAP7_ENST00000438100.2_Silent_p.A419A|MAP7_ENST00000454590.1_Silent_p.A456A|MAP7_ENST00000432797.2_Silent_p.A288A|MAP7_ENST00000544465.1_Silent_p.A419A	p.A434A	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1712	-	Colorectal(23;0.24)		434			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1302C>A	CCDS5178.1																																																																																				0.572	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		9	17	1	0	2.52707e-12	1	2.73248e-12	9	17				
CDH26	60437	broad.mit.edu	37	20	58571005	58571005	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58571005G>A	ENST00000244047.5	+	12	2095	c.1784G>A	c.(1783-1785)tGc>tAc	p.C595Y	CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Missense_Mutation_p.C595Y|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	595					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTAAGGATCTGCCCCTGTGCC	0.532																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1783-1785)tGc>tAc		cadherin 26							123.0	106.0	112.0					20																	58571005		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571005G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1784G>A	20.37:g.58571005G>A	ENSP00000244047:p.Cys595Tyr					CDH26_ENST00000244047.5_Missense_Mutation_p.C595Y|CDH26_ENST00000497614.1_3'UTR	p.C595Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		12	2084	+	all_lung(29;0.00963)		595					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1784G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.403250|2.403250	0.42613|0.42613	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.61627	.|0.09;0.09	4.56|4.56	4.56|4.56	0.56223|0.56223	.|Cadherin-like (1);	.|0.058626	.|0.64402	.|D	.|0.000002	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.82517|0.82517	2.595|2.595	0.36788|0.36788	D|D	0.884709|0.884709	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.85178|0.85178	0.1002|0.1002	5|10	.|0.87932	.|D	.|0	.|.	16.4509|16.4509	0.83990|0.83990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|595;595	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	T|Y	187|595	.|ENSP00000244047:C595Y;ENSP00000339390:C595Y	.|ENSP00000244047:C595Y	A|C	+|+	1|2	0|0	CDH26|CDH26	58004400|58004400	0.997000|0.997000	0.39634|0.39634	0.026000|0.026000	0.17262|0.17262	0.354000|0.354000	0.29330|0.29330	3.999000|3.999000	0.57031|0.57031	2.239000|2.239000	0.73571|0.73571	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.532	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		22	27	0	0	0	1	0	22	27				
MAD1L1	8379	broad.mit.edu	37	7	2259032	2259032	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2259032C>T	ENST00000406869.1	-	6	1088	c.531G>A	c.(529-531)gaG>gaA	p.E177E	MAD1L1_ENST00000265854.7_Silent_p.E177E|MAD1L1_ENST00000402746.1_Silent_p.E85E|MAD1L1_ENST00000399654.2_Silent_p.E177E			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	177					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCACCCGCATCTCCTGGTCCA	0.632																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(529-531)gaG>gaA		MAD1 mitotic arrest deficient-like 1 (yeast)							38.0	39.0	38.0					7																	2259032		2048	4221	6269	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259032C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.531G>A	7.37:g.2259032C>T						MAD1L1_ENST00000265854.7_Silent_p.E177E|MAD1L1_ENST00000402746.1_Silent_p.E85E|MAD1L1_ENST00000399654.2_Silent_p.E177E	p.E177E			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	1088	-		Ovarian(82;0.0272)	177					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.531G>A	CCDS43539.1																																																																																				0.632	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		14	17	0	0	0	1	0	14	17				
ADAMTS20	80070	broad.mit.edu	37	12	43822102	43822102	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43822102T>A	ENST00000389420.3	-	26	3886	c.3887A>T	c.(3886-3888)aAt>aTt	p.N1296I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N414I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1296I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1296					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N1296S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACCACCTGATTTTCATTATC	0.423																																						ENST00000389420.3																			1	Substitution - Missense(1)	p.N1296S(1)	lung(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3886-3888)aAt>aTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							106.0	103.0	104.0					12																	43822102		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822102T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3887A>T	12.37:g.43822102T>A	ENSP00000374071:p.Asn1296Ile					ADAMTS20_ENST00000395541.2_Missense_Mutation_p.N414I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N1296I	p.N1296I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	26	3886	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1296					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3887A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809948	0.50421	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61859	0.22;0.08;0.08;0.07	5.11	5.11	0.69529	.	0.264075	0.26099	N	0.026356	T	0.50257	0.1605	N	0.19112	0.55	0.37885	D	0.930505	B;D	0.56035	0.01;0.974	B;P	0.47470	0.01;0.548	T	0.61337	-0.7083	10	0.66056	D	0.02	.	15.2822	0.73794	0.0:0.0:0.0:1.0	.	1296;414	P59510;E9PBD5	ATS20_HUMAN;.	I	1296;426;414;1296;1296	ENSP00000374071:N1296I;ENSP00000447427:N426I;ENSP00000378911:N414I;ENSP00000448341:N1296I	ENSP00000374068:N1296I	N	-	2	0	ADAMTS20	42108369	0.992000	0.36948	0.909000	0.35828	0.112000	0.19704	3.497000	0.53295	2.240000	0.73641	0.477000	0.44152	AAT		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		41	69	0	0	0	1	0	41	69				
ARHGEF17	9828	broad.mit.edu	37	11	73020418	73020418	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73020418T>C	ENST00000263674.3	+	1	1085	c.735T>C	c.(733-735)agT>agC	p.S245S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	245					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCAGCCGCAGTCGTGCTGCCA	0.677																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(733-735)agT>agC		Rho guanine nucleotide exchange factor (GEF) 17							10.0	13.0	12.0					11																	73020418		2113	4071	6184	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020418T>C	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.735T>C	11.37:g.73020418T>C							p.S245S	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1085	+			245					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.735T>C	CCDS8221.1																																																																																				0.677	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	12	0	0	0	1	0	8	12				
PITX1	5307	broad.mit.edu	37	5	134367190	134367190	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134367190G>A	ENST00000265340.7	-	2	594	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	CTC-349C3.1_ENST00000432382.3_5'Flank|PITX1_ENST00000506438.1_Missense_Mutation_p.R60C	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	60					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TCCCCGCCGCGCTCCTTCTCT	0.721																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(178-180)Cgc>Tgc		paired-like homeodomain 1							20.0	19.0	19.0					5																	134367190		2200	4298	6498	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134367190G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.178C>T	5.37:g.134367190G>A	ENSP00000265340:p.Arg60Cys					PITX1_ENST00000506438.1_Missense_Mutation_p.R60C	p.R60C	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	594	-			60					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.178C>T	CCDS4182.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380645	0.61845	.	.	ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676	D;D;D;D	0.94537	-2.76;-2.76;-3.45;-2.57	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.48677	0.586	D	0.93749	0.7057	10	0.44086	T	0.13	.	14.4176	0.67160	0.0:0.0:0.8522:0.1478	.	60	P78337	PITX1_HUMAN	C	60	ENSP00000265340:R60C;ENSP00000427542:R60C;ENSP00000422908:R60C;ENSP00000423624:R60C	ENSP00000265340:R60C	R	-	1	0	PITX1	134395089	0.013000	0.17824	1.000000	0.80357	0.986000	0.74619	1.119000	0.31258	2.228000	0.72767	0.563000	0.77884	CGC		0.721	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			10	10	0	0	0	1	0	10	10				
MOK	5891	broad.mit.edu	37	14	102695636	102695636	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102695636C>T	ENST00000361847.2	-	12	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	MOK_ENST00000517966.1_3'UTR|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000519058.1_3'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.G416D|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000524370.1_3'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.G387D|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000193029.6_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	417					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTATCTTCCGCCTTTCCGCAC	0.582																																						ENST00000361847.2																			0											c.(1249-1251)gGc>gAc		MOK protein kinase							64.0	62.0	63.0					14																	102695636		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102695636C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.1250G>A	14.37:g.102695636C>T	ENSP00000355304:p.Gly417Asp					MOK_ENST00000519058.1_3'UTR|MOK_ENST00000193029.6_Intron|MOK_ENST00000517966.1_3'UTR|MOK_ENST00000561150.1_Intron|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000523231.1_3'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.G416D|MOK_ENST00000524214.1_Missense_Mutation_p.G387D|MOK_ENST00000522534.1_3'UTR|MOK_ENST00000522867.1_3'UTR|MOK_ENST00000524370.1_3'UTR	p.G417D	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			12	1481	-			417					B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.1250G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130348	0.37630	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.76060	-0.45;-0.51;-0.99	5.46	2.5	0.30297	.	0.494550	0.21329	N	0.076332	T	0.63390	0.2507	L	0.39566	1.225	0.09310	N	0.999999	B;B	0.15930	0.015;0.015	B;B	0.17433	0.018;0.011	T	0.51865	-0.8651	10	0.37606	T	0.19	.	9.7342	0.40377	0.1497:0.5614:0.2889:0.0	.	387;417	E7ERR8;Q9UQ07	.;MOK_HUMAN	D	416;417;387	ENSP00000429469:G416D;ENSP00000355304:G417D;ENSP00000428942:G387D	ENSP00000355304:G417D	G	-	2	0	RAGE	101765389	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.068000	0.11561	0.223000	0.20920	0.561000	0.74099	GGC		0.582	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			15	21	0	0	0	1	0	15	21				
MAP2	4133	broad.mit.edu	37	2	210560392	210560392	+	Silent	SNP	C	C	T	rs376049781	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210560392C>T	ENST00000360351.4	+	7	4004	c.3498C>T	c.(3496-3498)gcC>gcT	p.A1166A	MAP2_ENST00000447185.1_Silent_p.A1162A|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1166					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGAGATTGCCGTCAAATTGT	0.458													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20514	0.0		0.0	False		,,,				2504	0.0				Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3496-3498)gcC>gcT		microtubule-associated protein 2	Estramustine(DB01196)	C	,,,	0,4406		0,0,2203	70.0	65.0	67.0		,3498,,	0.6	0.5	2		67	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,1166/1828,,	210560392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560392C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3498C>T	2.37:g.210560392C>T						MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.A1162A|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.A1166A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4004	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1166					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.3498C>T	CCDS2384.1																																																																																				0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	31	0	0	0	1	0	21	31				
RP11-93K22.13	0	broad.mit.edu	37	3	129810973	129810973	+	lincRNA	SNP	G	G	A	rs114865400	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129810973G>A	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							GACACAGAGCGGTCGGCCTTC	0.632													N|||	155	0.0309505	0.1029	0.0086	5008	,	,		17255	0.0089		0.001	False		,,,				2504	0.0031					ENST00000514010.1																			0															C	GLN/ARG	117,1267		4,109,579	18.0	20.0	19.0		161	-2.4	0.0	3	dbSNP_132	19	1,3181		0,1,1590	no	missense	ALG1L2	NM_001136152.1	43	4,110,2169	AA,AG,GG		0.0314,8.4538,2.5843	benign	54/216	129810973	118,4448	692	1591	2283			0							g.chr3:129810973G>A																													3.37:g.129810973G>A						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.632	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			11	14	0	0	0	1	0	11	14				
ATF5	22809	broad.mit.edu	37	19	50436130	50436130	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50436130C>T	ENST00000423777.2	+	3	1007	c.630C>T	c.(628-630)cgC>cgT	p.R210R	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.R210R|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	210	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Interaction with PTP4A1. {ECO:0000250}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	GAGGGGACCGCAAGCAAAAGA	0.682																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(628-630)cgC>cgT		activating transcription factor 5							33.0	28.0	30.0					19																	50436130		2201	4300	6501	SO:0001819	synonymous_variant	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436130C>T	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.630C>T	19.37:g.50436130C>T						CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Silent_p.R210R	p.R210R	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	1007	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	210			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	Silent	SNP	ENST00000423777.2	37	c.630C>T	CCDS12789.1																																																																																				0.682	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			3	7	0	0	0	1	0	3	7				
IRAK1BP1	134728	broad.mit.edu	37	6	79607593	79607593	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:79607593C>A	ENST00000369940.2	+	3	534	c.429C>A	c.(427-429)aaC>aaA	p.N143K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.N56K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	143					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ATATTTGTAACTTTCTTGTTG	0.353																																						ENST00000369940.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12						c.(427-429)aaC>aaA		interleukin-1 receptor-associated kinase 1 binding protein 1							110.0	107.0	108.0					6																	79607593		2203	4300	6503	SO:0001583	missense	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79607593C>A	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.429C>A	6.37:g.79607593C>A	ENSP00000358956:p.Asn143Lys					IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.N56K	p.N143K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	3	534	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	143						Missense_Mutation	SNP	ENST00000369940.2	37	c.429C>A	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413148	0.62511	.	.	ENSG00000146243	ENST00000369940	.	.	.	5.7	3.91	0.45181	.	0.099633	0.64402	D	0.000002	T	0.66096	0.2755	M	0.77103	2.36	0.36887	D	0.889682	D	0.89917	1.0	D	0.91635	0.999	T	0.70472	-0.4862	8	.	.	.	-11.743	10.3899	0.44162	0.0:0.7859:0.0:0.2141	.	143	Q5VVH5	IKBP1_HUMAN	K	143	.	.	N	+	3	2	IRAK1BP1	79664312	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.079000	0.14782	1.404000	0.46819	0.655000	0.94253	AAC		0.353	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		19	43	1	0	1.00905e-13	1	1.09755e-13	19	43				
SS18L1	26039	broad.mit.edu	37	20	60733759	60733759	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60733759G>A	ENST00000331758.3	+	2	127	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	SS18L1_ENST00000370848.4_5'Flank|SS18L1_ENST00000421564.1_Missense_Mutation_p.C34Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	34	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CTGATCCAGTGCATCCTGGAG	0.627			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(100-102)tGc>tAc		synovial sarcoma translocation gene on chromosome 18-like 1							89.0	63.0	72.0					20																	60733759		2203	4299	6502	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60733759G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.101G>A	20.37:g.60733759G>A	ENSP00000333012:p.Cys34Tyr					SS18L1_ENST00000421564.1_Missense_Mutation_p.C34Y	p.C34Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		2	127	+	Breast(26;3.97e-09)		34			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.101G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306878	0.95629	.	.	ENSG00000184402	ENST00000421564;ENST00000331758	T;T	0.34859	1.34;1.34	5.38	5.38	0.77491	.	.	.	.	.	T	0.62829	0.2460	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.66416	-0.5929	9	0.87932	D	0	.	19.1325	0.93413	0.0:0.0:1.0:0.0	.	34;34	B4DSR7;O75177	.;CREST_HUMAN	Y	34	ENSP00000393999:C34Y;ENSP00000333012:C34Y	ENSP00000333012:C34Y	C	+	2	0	SS18L1	60167154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.456000	0.97628	2.533000	0.85409	0.591000	0.81541	TGC		0.627	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			19	19	0	0	0	1	0	19	19				
ANO4	121601	broad.mit.edu	37	12	101368636	101368636	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101368636T>C	ENST00000392977.3	+	7	781	c.571T>C	c.(571-573)Tac>Cac	p.Y191H	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.Y156H|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	191					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAAATCTATTACCTGCCCCG	0.463										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(466-468)Tac>Cac		anoctamin 4							115.0	108.0	110.0					12																	101368636		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101368636T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.571T>C	12.37:g.101368636T>C	ENSP00000376703:p.Tyr191His	HNSCC(74;0.22)				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.Y191H	p.Y156H	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			6	827	+			191					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.466T>C		.	.	.	.	.	.	.	.	.	.	T	15.15	2.746953	0.49257	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.67345	-0.26;-0.26	5.52	5.52	0.82312	.	0.076682	0.53938	D	0.000043	T	0.68091	0.2963	L	0.29908	0.895	0.80722	D	1	B;D	0.58620	0.209;0.983	B;P	0.59889	0.035;0.865	T	0.63427	-0.6640	10	0.16420	T	0.52	.	15.6392	0.76981	0.0:0.0:0.0:1.0	.	191;156	Q32M45;Q32M45-2	ANO4_HUMAN;.	H	156;191	ENSP00000376705:Y156H;ENSP00000376703:Y191H	ENSP00000376703:Y191H	Y	+	1	0	ANO4	99892767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.224000	0.72265	2.097000	0.63578	0.528000	0.53228	TAC		0.463	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		45	62	0	0	0	1	0	45	62				
COL6A2	1292	broad.mit.edu	37	21	47552194	47552194	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47552194C>T	ENST00000300527.4	+	28	2892	c.2788C>T	c.(2788-2790)Cgc>Tgc	p.R930C		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	930	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCCATCGTGCGCAGCCCGCG	0.667																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2788-2790)Cgc>Tgc		collagen, type VI, alpha 2							25.0	27.0	26.0					21																	47552194		2199	4297	6496	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552194C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2788C>T	21.37:g.47552194C>T	ENSP00000300527:p.Arg930Cys						p.R930C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2892	+	Breast(49;0.245)		930			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2788C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	5.318	0.243980	0.10077	.	.	ENSG00000142173	ENST00000300527	D	0.83914	-1.78	4.18	0.873	0.19118	von Willebrand factor, type A (3);	2.456540	0.02146	U	0.057573	T	0.80747	0.4682	L	0.34521	1.04	0.09310	N	1	P	0.52170	0.951	P	0.47645	0.553	T	0.70029	-0.4984	10	0.56958	D	0.05	-0.3515	9.3015	0.37849	0.2016:0.573:0.2253:0.0	.	930	P12110	CO6A2_HUMAN	C	930	ENSP00000300527:R930C	ENSP00000300527:R930C	R	+	1	0	COL6A2	46376622	0.116000	0.22171	0.015000	0.15790	0.008000	0.06430	1.099000	0.31013	0.715000	0.32103	0.313000	0.20887	CGC		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			3	1	0	0	0	1	0	3	1				
FBXO5	26271	broad.mit.edu	37	6	153296250	153296250	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:153296250T>C	ENST00000229758.3	-	2	668	c.610A>G	c.(610-612)Aca>Gca	p.T204A	FBXO5_ENST00000477822.1_5'Flank|FBXO5_ENST00000367241.3_Missense_Mutation_p.T158A	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	204	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTTTTTAATGTTGAACAAACC	0.373																																					NSCLC(121;372 1757 17721 17977 29669)	ENST00000367241.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(472-474)Aca>Gca		F-box protein 5							92.0	96.0	94.0					6																	153296250		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296250T>C	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.610A>G	6.37:g.153296250T>C	ENSP00000229758:p.Thr204Ala					FBXO5_ENST00000229758.3_Missense_Mutation_p.T204A	p.T158A	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	852	-		Ovarian(120;0.125)	204			Interaction with EVI5.		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.472A>G	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217378	0.79352	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.44083	0.93;0.93	5.81	5.81	0.92471	.	0.089089	0.85682	D	0.000000	T	0.45816	0.1361	L	0.32530	0.975	0.48185	D	0.999605	D	0.76494	0.999	D	0.80764	0.994	T	0.49835	-0.8897	10	0.59425	D	0.04	-19.5163	16.1562	0.81670	0.0:0.0:0.0:1.0	.	204	Q9UKT4	FBX5_HUMAN	A	204;158	ENSP00000229758:T204A;ENSP00000356210:T158A	ENSP00000229758:T204A	T	-	1	0	FBXO5	153337943	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.211000	0.58507	2.210000	0.71456	0.533000	0.62120	ACA		0.373	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			34	55	0	0	0	1	0	34	55				
RFC5	5985	broad.mit.edu	37	12	118454653	118454653	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:118454653G>A	ENST00000454402.2	+	1	139	c.21G>A	c.(19-21)aaG>aaA	p.K7K	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	7					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCACTCAAGCAGCAGGAGC	0.701																																						ENST00000454402.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(19-21)aaG>aaA		replication factor C (activator 1) 5, 36.5kDa							24.0	25.0	24.0					12																	118454653		2195	4298	6493	SO:0001819	synonymous_variant	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118454653G>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.21G>A	12.37:g.118454653G>A						RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_5'UTR	p.K7K	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN			1	139	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		7					A8MZ62|B3KSX8	Silent	SNP	ENST00000454402.2	37	c.21G>A	CCDS9185.1																																																																																				0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		6	7	0	0	0	1	0	6	7				
KRTAP5-1	387264	broad.mit.edu	37	11	1606354	1606354	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1606354G>A	ENST00000382171.2	-	1	159	c.126C>T	c.(124-126)tgC>tgT	p.C42C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	42	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGGCACACAGCAGCTGGAGC	0.682																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(124-126)tgC>tgT		keratin associated protein 5-1							64.0	77.0	73.0					11																	1606354		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606354G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.126C>T	11.37:g.1606354G>A						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.C42C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	42			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.126C>T	CCDS31330.1																																																																																				0.682	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		40	56	0	0	0	1	0	40	56				
TRPV5	56302	broad.mit.edu	37	7	142606707	142606707	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142606707C>T	ENST00000265310.1	-	14	2192	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	615					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GATCCCGGAGCGAGGCCACAG	0.597																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1843-1845)cGc>cAc		transient receptor potential cation channel, subfamily V, member 5							78.0	69.0	72.0					7																	142606707		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606707C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1844G>A	7.37:g.142606707C>T	ENSP00000265310:p.Arg615His						p.R615H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			14	2192	-	Melanoma(164;0.059)		615					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1844G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408297	0.96051	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82526	-1.56;-1.62	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.92147	0.5725	10	0.66056	D	0.02	-14.5709	17.3777	0.87397	0.0:1.0:0.0:0.0	.	615	Q9NQA5	TRPV5_HUMAN	H	615;560	ENSP00000265310:R615H;ENSP00000406361:R560H	ENSP00000265310:R615H	R	-	2	0	TRPV5	142316829	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.755000	0.47540	2.672000	0.90937	0.655000	0.94253	CGC		0.597	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		12	17	0	0	0	1	0	12	17				
RASGRP4	115727	broad.mit.edu	37	19	38912645	38912645	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38912645C>T	ENST00000587738.1	-	2	242	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	RASGRP4_ENST00000426920.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E58K|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E58K			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	58	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCTCATCTTCGCTGCAGCCG	0.622																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(172-174)Gaa>Aaa		RAS guanyl releasing protein 4							33.0	38.0	36.0					19																	38912645		2054	4203	6257	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912645C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.172G>A	19.37:g.38912645C>T	ENSP00000465772:p.Glu58Lys					RASGRP4_ENST00000587753.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E58K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E58K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E58K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E58K	p.E58K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	385	-	all_cancers(60;4.21e-06)		58			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.172G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191564	0.58017	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.2	3.07	0.35406	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.314320	0.29396	N	0.012279	T	0.32793	0.0841	L	0.51422	1.61	0.35592	D	0.807124	P;P;D;P;D;P;P	0.63046	0.665;0.527;0.992;0.92;0.969;0.934;0.92	B;B;P;B;P;B;B	0.48901	0.107;0.107;0.594;0.212;0.49;0.236;0.212	T	0.46076	-0.9217	10	0.56958	D	0.05	-3.0435	10.0657	0.42301	0.0:0.6777:0.3223:0.0	.	58;58;58;58;58;58;58	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	K	58	ENSP00000411878:E58K;ENSP00000293062:E58K;ENSP00000445966:E58K;ENSP00000416463:E58K	ENSP00000293062:E58K	E	-	1	0	RASGRP4	43604485	0.153000	0.22777	0.974000	0.42286	0.894000	0.52154	1.802000	0.38853	2.354000	0.79902	0.563000	0.77884	GAA		0.622	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		7	11	0	0	0	1	0	7	11				
SGK3	23678	broad.mit.edu	37	8	67759502	67759502	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67759502A>G	ENST00000396596.1	+	15	1363	c.1149A>G	c.(1147-1149)ggA>ggG	p.G383G	SGK3_ENST00000520976.1_Silent_p.G351G|SGK3_ENST00000521198.2_Silent_p.G383G|SGK3_ENST00000522398.1_Silent_p.G383G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G383G|SGK3_ENST00000345714.4_Silent_p.G383G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGAGGCCAGGAGTGAGTCTTA	0.398																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1147-1149)ggA>ggG		serum/glucocorticoid regulated kinase family, member 3							99.0	98.0	98.0					8																	67759502		2203	4300	6503	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67759502A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1149A>G	8.37:g.67759502A>G						SGK3_ENST00000521198.2_Silent_p.G383G|SGK3_ENST00000345714.4_Silent_p.G383G|SGK3_ENST00000522398.1_Silent_p.G383G|SGK3_ENST00000520976.1_Silent_p.G351G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G383G	p.G383G	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		15	1363	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	383			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.1149A>G	CCDS6195.1																																																																																				0.398	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			43	58	0	0	0	1	0	43	58				
PPFIA4	8497	broad.mit.edu	37	1	203020974	203020974	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203020974G>A	ENST00000447715.2	+	18	2042	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	PPFIA4_ENST00000295706.4_Missense_Mutation_p.R24H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R24H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R237H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R24H|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R509H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	534					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTGCATCGCCGCTACTCGGCA	0.637																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1525-1527)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							25.0	29.0	27.0					1																	203020974		2153	4258	6411	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203020974G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1601G>A	1.37:g.203020974G>A	ENSP00000402576:p.Arg534His					PPFIA4_ENST00000272198.6_Missense_Mutation_p.R24H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R237H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R24H|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R534H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R24H	p.R509H			O75335	LIPA4_HUMAN			13	2053	+			24			SAM 2.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1526G>A		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805243	0.50315	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.53640	0.61;1.83;0.61;0.61;0.61	5.15	2.12	0.27331	.	0.160830	0.28296	N	0.015864	T	0.41373	0.1156	M	0.78456	2.415	0.21355	N	0.999712	B;P;B;B	0.34412	0.016;0.453;0.085;0.008	B;B;B;B	0.27608	0.032;0.081;0.018;0.008	T	0.42616	-0.9441	10	0.72032	D	0.01	-0.7921	5.1721	0.15116	0.079:0.1433:0.6292:0.1485	.	237;534;24;24	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	H	509;534;24;237;24	ENSP00000356209:R509H;ENSP00000402576:R534H;ENSP00000295706:R24H;ENSP00000400379:R237H;ENSP00000272198:R24H	ENSP00000272198:R24H	R	+	2	0	PPFIA4	201287597	0.199000	0.23386	0.320000	0.25306	0.982000	0.71751	2.073000	0.41519	0.155000	0.19261	0.561000	0.74099	CGC		0.637	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		7	14	0	0	0	1	0	7	14				
AKAP8L	26993	broad.mit.edu	37	19	15512317	15512317	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15512317C>T	ENST00000397410.5	-	5	590	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	AKAP8L_ENST00000595465.2_Missense_Mutation_p.E93K|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	154						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGGCCATTTCCATCTCAGGG	0.612																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(460-462)Gaa>Aaa		A kinase (PRKA) anchor protein 8-like							55.0	56.0	56.0					19																	15512317		2134	4231	6365	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512317C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.460G>A	19.37:g.15512317C>T	ENSP00000380557:p.Glu154Lys					AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.E93K	p.E154K	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	524	-			154					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.460G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429086	0.62844	.	.	ENSG00000011243	ENST00000397410	T	0.46451	0.87	4.72	4.72	0.59763	.	0.074409	0.53938	D	0.000050	T	0.45397	0.1340	L	0.34521	1.04	0.31191	N	0.700879	P;D;P	0.55605	0.948;0.972;0.948	B;P;B	0.53912	0.431;0.737;0.354	T	0.51434	-0.8706	10	0.46703	T	0.11	-14.2724	14.5905	0.68362	0.0:1.0:0.0:0.0	.	93;154;154	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	K	154	ENSP00000380557:E154K	ENSP00000380557:E154K	E	-	1	0	AKAP8L	15373317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.005000	0.57075	2.166000	0.68216	0.655000	0.94253	GAA		0.612	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		10	18	0	0	0	1	0	10	18				
CDH11	1009	broad.mit.edu	37	16	65032614	65032614	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:65032614G>A	ENST00000268603.4	-	4	989	c.374C>T	c.(373-375)aCg>aTg	p.T125M	CDH11_ENST00000566827.1_De_novo_Start_InFrame|CDH11_ENST00000394156.3_Missense_Mutation_p.T125M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	125	Cadherin 1. {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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCCATCAACGTGTACTGGGC	0.527			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(373-375)aCg>aTg		cadherin 11, type 2, OB-cadherin (osteoblast)							157.0	118.0	131.0					16																	65032614		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032614G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.374C>T	16.37:g.65032614G>A	ENSP00000268603:p.Thr125Met	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_De_novo_Start_InFrame|CDH11_ENST00000268603.4_Missense_Mutation_p.T125M	p.T125M			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	827	-		Ovarian(137;0.0973)	125			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.374C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740264	0.89573	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.53206	0.63;0.63	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.962	T	0.74572	-0.3621	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	125;125	P55287-2;P55287	.;CAD11_HUMAN	M	125;125;108;125	ENSP00000268603:T125M;ENSP00000377711:T125M	ENSP00000268603:T125M	T	-	2	0	CDH11	63590115	1.000000	0.71417	0.988000	0.46212	0.899000	0.52679	7.508000	0.81686	2.884000	0.98904	0.655000	0.94253	ACG		0.527	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		17	22	0	0	0	1	0	17	22				
ZNF778	197320	broad.mit.edu	37	16	89293364	89293364	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89293364G>T	ENST00000433976.2	+	6	916	c.584G>T	c.(583-585)aGa>aTa	p.R195I	ZNF778_ENST00000306502.6_Missense_Mutation_p.R153I|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCGGGACAGATCTCTTGAC	0.478																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(583-585)aGa>aTa		zinc finger protein 778							147.0	144.0	145.0					16																	89293364		2036	4209	6245	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89293364G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.584G>T	16.37:g.89293364G>T	ENSP00000405289:p.Arg195Ile					RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.R153I	p.R195I	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	916	+			195					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.584G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009668	0.07912	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.17528	2.27;2.27	1.29	-2.59	0.06209	.	.	.	.	.	T	0.12774	0.0310	L	0.49126	1.545	0.09310	N	1	B;B	0.18013	0.025;0.014	B;B	0.14023	0.01;0.005	T	0.25257	-1.0137	9	0.72032	D	0.01	.	1.855	0.03177	0.2085:0.1744:0.4433:0.1739	.	153;195	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	I	195;153	ENSP00000405289:R195I;ENSP00000305203:R153I	ENSP00000305203:R153I	R	+	2	0	ZNF778	87820865	0.475000	0.25894	0.000000	0.03702	0.000000	0.00434	-0.165000	0.09968	-2.597000	0.00453	-1.947000	0.00488	AGA		0.478	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	123	1	0	0.00024832	1	0.000253518	4	123				
TFE3	7030	broad.mit.edu	37	X	48891660	48891660	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48891660C>T	ENST00000315869.7	-	6	1251	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	331					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGAGATCTCCCGTTTGATGTT	0.562			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(991-993)cGg>cAg		transcription factor binding to IGHM enhancer 3							102.0	64.0	77.0					X																	48891660		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891660C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.992G>A	X.37:g.48891660C>T	ENSP00000314129:p.Arg331Gln					TFE3_ENST00000493583.1_5'UTR	p.R331Q	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			6	1251	-			331					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.992G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227692	0.58668	.	.	ENSG00000068323	ENST00000315869	T	0.16743	2.32	5.55	3.45	0.39498	.	0.112759	0.56097	D	0.000027	T	0.12774	0.0310	L	0.45137	1.4	0.41089	D	0.985585	B	0.21147	0.052	B	0.08055	0.003	T	0.09164	-1.0687	10	0.29301	T	0.29	-7.9152	7.095	0.25305	0.0:0.6651:0.1457:0.1891	.	331	P19532	TFE3_HUMAN	Q	331	ENSP00000314129:R331Q	ENSP00000314129:R331Q	R	-	2	0	TFE3	48778604	0.836000	0.29430	1.000000	0.80357	0.945000	0.59286	1.196000	0.32198	1.114000	0.41781	0.509000	0.49947	CGG		0.562	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	2	0	0	0	1	0	8	2				
OR52M1	119772	broad.mit.edu	37	11	4566922	4566922	+	Missense_Mutation	SNP	C	C	T	rs374817370		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4566922C>T	ENST00000360213.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCCGCCTGCGGCTGCCCCT	0.517																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(502-504)Cgg>Tgg		olfactory receptor, family 52, subfamily M, member 1							104.0	105.0	105.0					11																	4566922		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566922C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.502C>T	11.37:g.4566922C>T	ENSP00000353343:p.Arg168Trp						p.R168W	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	502	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	168						Missense_Mutation	SNP	ENST00000360213.1	37	c.502C>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419680	0.83559	.	.	ENSG00000197790	ENST00000360213	T	0.00188	8.59	4.98	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	0.522839	0.15636	N	0.252122	T	0.00328	0.0010	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.72075	0.976	T	0.52495	-0.8568	10	0.87932	D	0	.	0.5977	0.00739	0.3383:0.2627:0.1105:0.2885	.	168	Q8NGK5	O52M1_HUMAN	W	168	ENSP00000353343:R168W	ENSP00000353343:R168W	R	+	1	2	OR52M1	4523498	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-5.506000	0.00117	-0.770000	0.04614	-0.133000	0.14855	CGG		0.517	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		40	60	0	0	0	1	0	40	60				
TIRAP	114609	broad.mit.edu	37	11	126162816	126162816	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162816C>T	ENST00000392680.2	+	5	917	c.512C>T	c.(511-513)gCc>gTc	p.A171V	TIRAP_ENST00000392678.3_Missense_Mutation_p.A171V|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Missense_Mutation_p.A171V|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	171	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GCTCCAGGGGCCGAGGGCTGC	0.647																																						ENST00000392679.1																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(511-513)gCc>gTc		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							31.0	33.0	32.0					11																	126162816		2201	4298	6499	SO:0001583	missense	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162816C>T	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.512C>T	11.37:g.126162816C>T	ENSP00000376447:p.Ala171Val					TIRAP_ENST00000392678.3_Missense_Mutation_p.A171V|TIRAP_ENST00000392680.2_Missense_Mutation_p.A171V|RP11-712L6.7_ENST00000533378.1_RNA	p.A171V			P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	4	795	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	171			TIR.		B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	c.512C>T	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663423	0.67700	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.02369	4.32;4.32;4.32	5.67	5.67	0.87782	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.246248	0.40640	N	0.001048	T	0.11879	0.0289	L	0.55481	1.735	0.09310	N	0.999993	P;D	0.63880	0.896;0.993	P;D	0.63113	0.673;0.911	T	0.02104	-1.1213	9	.	.	.	-3.9705	19.7738	0.96383	0.0:1.0:0.0:0.0	.	171;171	P58753;Q56UH9	TIRAP_HUMAN;.	V	171	ENSP00000376446:A171V;ENSP00000376445:A171V;ENSP00000376447:A171V	.	A	+	2	0	TIRAP	125668026	0.162000	0.22906	0.016000	0.15963	0.268000	0.26511	3.986000	0.56937	2.672000	0.90937	0.655000	0.94253	GCC		0.647	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		3	11	0	0	0	1	0	3	11				
LATS2	26524	broad.mit.edu	37	13	21562221	21562221	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21562221G>A	ENST00000382592.4	-	4	2103	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G	LATS2_ENST00000542899.1_Silent_p.G566G|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TATCCTTTCCGCCTTTGTCCC	0.597																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1696-1698)ggC>ggT		large tumor suppressor kinase 2							193.0	190.0	191.0					13																	21562221		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562221G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1698C>T	13.37:g.21562221G>A						LATS2_ENST00000542899.1_Silent_p.G566G	p.G566G	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2103	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	566						Silent	SNP	ENST00000382592.4	37	c.1698C>T	CCDS9294.1																																																																																				0.597	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			5	117	0	0	0	1	0	5	117				
KRT76	51350	broad.mit.edu	37	12	53165939	53165939	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53165939G>A	ENST00000332411.2	-	5	1129	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	359	Coil 2.|Rod.		A -> T (in dbSNP:rs6580904). {ECO:0000269|PubMed:1282112, ECO:0000269|PubMed:21269460}.		cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCATACTGGGCGCGGACCTC	0.582																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1075-1077)gCc>gTc		keratin 76							91.0	78.0	83.0					12																	53165939		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165939G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1076C>T	12.37:g.53165939G>A	ENSP00000330101:p.Ala359Val						p.A359V	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			5	1129	-			359		A -> T (in dbSNP:rs6580904).	Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1076C>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957400	0.53400	.	.	ENSG00000185069	ENST00000332411	D	0.87729	-2.29	4.42	4.42	0.53409	Filament (1);	0.000000	0.44097	D	0.000486	D	0.92675	0.7672	M	0.78801	2.425	0.43271	D	0.995229	D	0.67145	0.996	D	0.70227	0.968	D	0.93369	0.6733	10	0.66056	D	0.02	.	14.7034	0.69171	0.0:0.1566:0.8434:0.0	.	359	Q01546	K22O_HUMAN	V	359	ENSP00000330101:A359V	ENSP00000330101:A359V	A	-	2	0	KRT76	51452206	0.100000	0.21855	0.993000	0.49108	0.176000	0.22953	2.610000	0.46325	2.398000	0.81561	0.462000	0.41574	GCC		0.582	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		21	21	0	0	0	1	0	21	21				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452721	100452721	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100452721C>T	ENST00000279907.7	-	14	2546	c.2334G>A	c.(2332-2334)gaG>gaA	p.E778E	UHRF1BP1L_ENST00000545232.2_Silent_p.E428E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	778										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTGTCAAAGGCTCAGACTCTG	0.418																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2332-2334)gaG>gaA		UHRF1 binding protein 1-like							90.0	92.0	92.0					12																	100452721		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452721C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2334G>A	12.37:g.100452721C>T						UHRF1BP1L_ENST00000545232.2_Silent_p.E428E	p.E778E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2546	-			778					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2334G>A	CCDS31882.1																																																																																				0.418	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		28	86	0	0	0	1	0	28	86				
PRCC	5546	broad.mit.edu	37	1	156764468	156764468	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156764468G>A	ENST00000271526.4	+	5	1463	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	PRCC_ENST00000353233.3_Silent_p.L365L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	397					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTAAGCGGCTGCAGGGCAAGA	0.473			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1189-1191)ctG>ctA		papillary renal cell carcinoma (translocation-associated)							53.0	56.0	55.0					1																	156764468		2203	4300	6503	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156764468G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1191G>A	1.37:g.156764468G>A						PRCC_ENST00000353233.3_Silent_p.L365L	p.L397L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			5	1463	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		397					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.1191G>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	G	5.615	0.298265	0.10622	.	.	ENSG00000143294	ENST00000454659	.	.	.	4.7	-4.11	0.03928	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45011	-0.9290	4	.	.	.	-4.8373	6.8961	0.24257	0.4231:0.0:0.4588:0.1181	.	.	.	.	Y	163	.	.	C	+	2	0	PRCC	155031092	0.696000	0.27757	0.989000	0.46669	0.621000	0.37620	-0.338000	0.07842	-0.434000	0.07275	-1.012000	0.02466	TGC		0.473	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		13	19	0	0	0	1	0	13	19				
TM7SF3	51768	broad.mit.edu	37	12	27127112	27127112	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27127112G>A	ENST00000343028.4	-	12	1724	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	500						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AATCTGTAACGTAATTCCACT	0.428																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1498-1500)aCg>aTg		transmembrane 7 superfamily member 3							92.0	83.0	86.0					12																	27127112		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27127112G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1499C>T	12.37:g.27127112G>A	ENSP00000342322:p.Thr500Met					RP11-421F16.3_ENST00000500632.1_RNA	p.T500M	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			12	1724	-	Colorectal(261;0.0847)		500					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1499C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682217	0.68042	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.31510	1.49	5.58	5.58	0.84498	.	0.202993	0.52532	D	0.000062	T	0.52125	0.1715	L	0.60455	1.87	0.45108	D	0.99812	D	0.76494	0.999	D	0.64042	0.921	T	0.40664	-0.9551	10	0.44086	T	0.13	-12.0532	19.9662	0.97271	0.0:0.0:1.0:0.0	.	500	Q9NS93	TM7S3_HUMAN	M	500;214	ENSP00000342322:T500M	ENSP00000342322:T500M	T	-	2	0	TM7SF3	27018379	1.000000	0.71417	0.745000	0.31077	0.813000	0.45954	5.639000	0.67868	2.793000	0.96121	0.655000	0.94253	ACG		0.428	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		13	38	0	0	0	1	0	13	38				
LGR6	59352	broad.mit.edu	37	1	202276013	202276013	+	Missense_Mutation	SNP	G	G	A	rs527790135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202276013G>A	ENST00000367278.3	+	13	1243	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	LGR6_ENST00000255432.7_Missense_Mutation_p.R333H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R246H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	385					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAACACAACCGCATCTGGGAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16861	0.001		0.0	False		,,,				2504	0.0					ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1153-1155)cGc>cAc		leucine-rich repeat containing G protein-coupled receptor 6							56.0	54.0	54.0					1																	202276013		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202276013G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1154G>A	1.37:g.202276013G>A	ENSP00000356247:p.Arg385His					LGR6_ENST00000439764.2_Missense_Mutation_p.R246H|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.R333H	p.R385H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			13	1243	+			385					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1154G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993731	0.35131	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.47177	0.85;0.85;0.85	5.62	2.33	0.28932	.	0.397240	0.28510	N	0.015084	T	0.37758	0.1015	L	0.41961	1.31	0.28527	N	0.912796	B;B;B	0.20671	0.047;0.006;0.016	B;B;B	0.16289	0.006;0.005;0.015	T	0.36237	-0.9756	10	0.51188	T	0.08	.	10.8742	0.46902	0.2373:0.0:0.7627:0.0	.	246;333;385	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	H	385;333;246	ENSP00000356247:R385H;ENSP00000255432:R333H;ENSP00000387869:R246H	ENSP00000255432:R333H	R	+	2	0	LGR6	200542636	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.793000	0.38764	0.761000	0.33130	-0.751000	0.03497	CGC		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		7	18	0	0	0	1	0	7	18				
FGFR3	2261	broad.mit.edu	37	4	1807829	1807829	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1807829G>A	ENST00000260795.2	+	13	1990	c.1888G>A	c.(1888-1890)Gtg>Atg	p.V630M	FGFR3_ENST00000440486.2_Missense_Mutation_p.V630M|FGFR3_ENST00000412135.2_Missense_Mutation_p.V518M|FGFR3_ENST00000481110.2_Missense_Mutation_p.V631M|FGFR3_ENST00000352904.1_Missense_Mutation_p.V518M|FGFR3_ENST00000340107.4_Missense_Mutation_p.V632M			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	630	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.V630M(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGAGGACAACGTGATGAAGAT	0.657		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		1	Substitution - Missense(1)	p.V630M(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(1894-1896)Gtg>Atg		fibroblast growth factor receptor 3	Palifermin(DB00039)						47.0	46.0	46.0					4																	1807829		2202	4300	6502	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807829G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1888G>A	4.37:g.1807829G>A	ENSP00000260795:p.Val630Met					FGFR3_ENST00000412135.2_Missense_Mutation_p.V518M|FGFR3_ENST00000481110.2_Missense_Mutation_p.V631M|FGFR3_ENST00000440486.2_Missense_Mutation_p.V630M|FGFR3_ENST00000352904.1_Missense_Mutation_p.V518M|FGFR3_ENST00000260795.2_Missense_Mutation_p.V630M	p.V632M	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		14	2150	+		Breast(71;0.212)|all_epithelial(65;0.241)	630			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1894G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.249026	0.59103	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	4.31	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.063240	0.64402	D	0.000007	D	0.94198	0.8138	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.81914	0.99;0.677;0.988;0.995	D	0.95144	0.8266	10	0.87932	D	0	.	17.1963	0.86893	0.0:0.0:1.0:0.0	.	632;518;630;631	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	M	631;632;630;518;630;518	ENSP00000420533:V631M;ENSP00000339824:V632M;ENSP00000414914:V630M;ENSP00000412903:V518M;ENSP00000260795:V630M;ENSP00000231803:V518M	ENSP00000260795:V630M	V	+	1	0	FGFR3	1777627	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.581000	0.82535	2.123000	0.65237	0.442000	0.29010	GTG		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		10	16	0	0	0	1	0	10	16				
KRT7	3855	broad.mit.edu	37	12	52629021	52629021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52629021G>A	ENST00000331817.5	+	2	590	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	136	Linker 1.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AAGAGCAGCCGCCTCCCAGAC	0.637																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(406-408)cGc>cAc		keratin 7							38.0	42.0	41.0					12																	52629021		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52629021G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.407G>A	12.37:g.52629021G>A	ENSP00000329243:p.Arg136His						p.R136H	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	2	590	+			136			Linker 1.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.407G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265756	0.23136	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.89552	-2.53	4.6	0.439	0.16567	Filament (1);	1.811830	0.03108	N	0.162123	T	0.80909	0.4714	L	0.27053	0.805	0.22479	N	0.999068	B;B	0.12630	0.006;0.003	B;B	0.10450	0.005;0.004	T	0.64875	-0.6304	10	0.66056	D	0.02	.	0.8051	0.01082	0.3801:0.127:0.2987:0.1942	.	136;136	F8VZY5;P08729	.;K2C7_HUMAN	H	136;136;112;136	ENSP00000329243:R136H	ENSP00000329243:R136H	R	+	2	0	KRT7	50915288	0.001000	0.12720	0.107000	0.21349	0.803000	0.45373	0.694000	0.25512	-0.021000	0.14009	0.655000	0.94253	CGC		0.637	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		13	32	0	0	0	1	0	13	32				
NCAN	1463	broad.mit.edu	37	19	19339180	19339180	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19339180G>A	ENST00000252575.6	+	8	2850	c.2751G>A	c.(2749-2751)ccG>ccA	p.P917P	NCAN_ENST00000538881.1_Silent_p.P368P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	917					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CAGTGCCTCCGCATCAGAGCA	0.617																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2749-2751)ccG>ccA		neurocan							88.0	88.0	88.0					19																	19339180		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339180G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2751G>A	19.37:g.19339180G>A						NCAN_ENST00000538881.1_Silent_p.P368P	p.P917P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2794	+			917					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2751G>A	CCDS12397.1																																																																																				0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		24	55	0	0	0	1	0	24	55				
MED26	9441	broad.mit.edu	37	19	16687136	16687136	+	Missense_Mutation	SNP	G	G	A	rs199739577		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687136G>A	ENST00000263390.3	-	3	1767	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	502					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGGTCTGCGCGCCCGATGA	0.617																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1504-1506)gCg>gTg		mediator complex subunit 26		G	VAL/ALA	0,4406		0,0,2203	68.0	60.0	62.0		1505	3.9	0.5	19		62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MED26	NM_004831.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	502/601	16687136	2,13004	2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687136G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1505C>T	19.37:g.16687136G>A	ENSP00000263390:p.Ala502Val					CTD-3222D19.2_ENST00000409035.1_Intron	p.A502V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1767	-			502					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1505C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226450	0.09916	0.0	2.33E-4	ENSG00000105085	ENST00000263390	T	0.44083	0.93	5.14	3.88	0.44766	.	0.251920	0.39341	N	0.001392	T	0.15955	0.0384	N	0.04297	-0.235	0.38261	D	0.941885	B	0.19445	0.036	B	0.15484	0.013	T	0.18209	-1.0344	10	0.15952	T	0.53	-5.9868	4.2649	0.10759	0.3029:0.0:0.6971:0.0	.	502	O95402	MED26_HUMAN	V	502	ENSP00000263390:A502V	ENSP00000263390:A502V	A	-	2	0	MED26	16548136	0.966000	0.33281	0.547000	0.28179	0.375000	0.29983	3.381000	0.52455	2.566000	0.86566	0.585000	0.79938	GCG		0.617	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		19	19	0	0	0	1	0	19	19				
KCNA7	3743	broad.mit.edu	37	19	49573733	49573733	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49573733A>G	ENST00000221444.1	-	2	1313	c.958T>C	c.(958-960)Ttc>Ctc	p.F320L		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	320					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	ACACCGATGAAGAGGAAAAAG	0.582																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(958-960)Ttc>Ctc		potassium voltage-gated channel, shaker-related subfamily, member 7							52.0	53.0	53.0					19																	49573733		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573733A>G	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.958T>C	19.37:g.49573733A>G	ENSP00000221444:p.Phe320Leu						p.F320L	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1313	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	320					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.958T>C	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.962140	0.53400	.	.	ENSG00000104848	ENST00000221444	D	0.98150	-4.75	4.65	3.62	0.41486	Ion transport (1);	0.051718	0.85682	D	0.000000	D	0.93311	0.7868	N	0.17474	0.49	0.51482	D	0.999921	B	0.16603	0.018	B	0.16722	0.016	D	0.88725	0.3232	10	0.46703	T	0.11	.	10.7321	0.46102	0.8394:0.1606:0.0:0.0	.	320	Q96RP8	KCNA7_HUMAN	L	320	ENSP00000221444:F320L	ENSP00000221444:F320L	F	-	1	0	KCNA7	54265545	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.366000	0.59492	0.737000	0.32582	0.402000	0.26972	TTC		0.582	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		4	9	0	0	0	1	0	4	9				
FBXL19	54620	broad.mit.edu	37	16	30958065	30958065	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30958065C>T	ENST00000380310.2	+	10	1860	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000338343.4_Missense_Mutation_p.R548C|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.R256C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R432C|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.R548C	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	568					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AACAGAGAGCCGTGGTCGGCT	0.652																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1642-1644)Cgt>Tgt		F-box and leucine-rich repeat protein 19							24.0	31.0	28.0					16																	30958065		2067	4207	6274	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30958065C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1702C>T	16.37:g.30958065C>T	ENSP00000369666:p.Arg568Cys					FBXL19_ENST00000380310.2_Missense_Mutation_p.R568C|FBXL19_ENST00000562319.1_Missense_Mutation_p.R548C|FBXL19_ENST00000471231.2_Missense_Mutation_p.R256C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R432C	p.R548C			Q6PCT2	FXL19_HUMAN			10	2029	+			568					A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1642C>T	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.56|18.56	3.650389|3.650389	0.67472|0.67472	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.36699	.|1.24;1.24	4.76|4.76	3.71|3.71	0.42584|0.42584	.|.	.|0.442202	.|0.19374	.|N	.|0.115825	T|T	0.61286|0.61286	0.2335|0.2335	M|M	0.84683|0.84683	2.71|2.71	0.50467|0.50467	D|D	0.99987|0.99987	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.74023	.|0.982;0.858	T|T	0.62618|0.62618	-0.6816|-0.6816	5|10	.|0.28530	.|T	.|0.3	-4.7225|-4.7225	14.6055|14.6055	0.68475|0.68475	0.156:0.844:0.0:0.0|0.156:0.844:0.0:0.0	.|.	.|568;525	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	L|C	459|548;568	.|ENSP00000339712:R548C;ENSP00000369666:R568C	.|ENSP00000339712:R548C	P|R	+|+	2|1	0|0	FBXL19|FBXL19	30865566|30865566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.760000|2.760000	0.47581|0.47581	2.203000|2.203000	0.70933|0.70933	0.561000|0.561000	0.74099|0.74099	CCG|CGT		0.652	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		4	10	0	0	0	1	0	4	10				
PLCH1	23007	broad.mit.edu	37	3	155199255	155199255	+	Silent	SNP	G	G	A	rs369115422		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155199255G>A	ENST00000340059.7	-	23	4583	c.4584C>T	c.(4582-4584)ggC>ggT	p.G1528G	PLCH1_ENST00000460012.1_Silent_p.G1490G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.G1490G|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.G1490G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1528					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G1490G(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACAGTCACGCCCTTCTTGT	0.463																																						ENST00000460012.1																			1	Substitution - coding silent(1)	p.G1490G(1)	large_intestine(1)	NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4468-4470)ggC>ggT		phospholipase C, eta 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		4584,,4470	-10.5	0.0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	PLCH1	NM_001130960.1,NM_001130961.1,NM_014996.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1528/1694,,1490/1656	155199255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199255G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4584C>T	3.37:g.155199255G>A						PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.G1490G|PLCH1_ENST00000340059.7_Silent_p.G1528G|PLCH1_ENST00000334686.6_Silent_p.G1490G	p.G1490G			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4827	-			1528					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4470C>T	CCDS46939.1																																																																																				0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		20	70	0	0	0	1	0	20	70				
AHNAK2	113146	broad.mit.edu	37	14	105411328	105411328	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411328G>A	ENST00000333244.5	-	7	10579	c.10460C>T	c.(10459-10461)gCc>gTc	p.A3487V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3487						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGCCTGGGGCCGACACCCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10459-10461)gCc>gTc		AHNAK nucleoprotein 2							191.0	206.0	201.0					14																	105411328		1968	4137	6105	SO:0001583	missense	113146					nucleus		g.chr14:105411328G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10460C>T	14.37:g.105411328G>A	ENSP00000353114:p.Ala3487Val					AHNAK2_ENST00000557457.1_Intron	p.A3487V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10579	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3487					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10460C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.804365	0.31869	.	.	ENSG00000185567	ENST00000333244	T	0.01015	5.44	4.15	0.846	0.18955	.	26.326900	0.02179	U	0.060328	T	0.01489	0.0048	L	0.57536	1.79	0.09310	N	1	B	0.26147	0.143	B	0.23419	0.046	T	0.49771	-0.8904	10	0.30854	T	0.27	.	4.9823	0.14172	0.2194:0.2652:0.5154:0.0	.	3487	Q8IVF2	AHNK2_HUMAN	V	3487	ENSP00000353114:A3487V	ENSP00000353114:A3487V	A	-	2	0	AHNAK2	104482373	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.203000	0.09438	0.698000	0.31739	0.313000	0.20887	GCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		98	164	0	0	0	1	0	98	164				
MIB1	57534	broad.mit.edu	37	18	19345871	19345871	+	Missense_Mutation	SNP	G	G	A	rs541957058		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19345871G>A	ENST00000261537.6	+	2	632	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	123					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TTAAGACATCGCTTTTACCGA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19569	0.0		0.0	False		,,,				2504	0.001					ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(367-369)cGc>cAc		mindbomb E3 ubiquitin protein ligase 1							150.0	132.0	138.0					18																	19345871		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345871G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.368G>A	18.37:g.19345871G>A	ENSP00000261537:p.Arg123His					MIB1_ENST00000578646.1_3'UTR	p.R123H	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	632	+			123					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.368G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375565	0.95923	.	.	ENSG00000101752	ENST00000261537	D	0.87887	-2.31	5.6	5.6	0.85130	Zinc finger, ZZ-type (2);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	M	0.76170	2.325	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.93302	0.6677	10	0.62326	D	0.03	-8.7497	19.6138	0.95622	0.0:0.0:1.0:0.0	.	123	Q86YT6	MIB1_HUMAN	H	123	ENSP00000261537:R123H	ENSP00000261537:R123H	R	+	2	0	MIB1	17599869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	2.640000	0.89533	0.591000	0.81541	CGC		0.408	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		13	77	0	0	0	1	0	13	77				
ARMC6	93436	broad.mit.edu	37	19	19162543	19162543	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19162543C>T	ENST00000535612.1	+	5	824	c.392C>T	c.(391-393)gCg>gTg	p.A131V	ARMC6_ENST00000546344.1_Missense_Mutation_p.A38V|ARMC6_ENST00000269932.6_Missense_Mutation_p.A106V|ARMC6_ENST00000392336.3_Missense_Mutation_p.A131V|ARMC6_ENST00000392335.2_Missense_Mutation_p.A106V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	131					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGCTTCCTCGCGGCCCAGAAG	0.642																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(391-393)gCg>gTg		armadillo repeat containing 6							63.0	59.0	61.0					19																	19162543		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162543C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.392C>T	19.37:g.19162543C>T	ENSP00000444156:p.Ala131Val					ARMC6_ENST00000546344.1_Missense_Mutation_p.A38V|ARMC6_ENST00000392335.2_Missense_Mutation_p.A106V|ARMC6_ENST00000269932.6_Missense_Mutation_p.A106V|ARMC6_ENST00000392336.3_Missense_Mutation_p.A131V	p.A131V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	824	+			131					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.392C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071449	0.93950	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000541725;ENST00000269932;ENST00000546344;ENST00000540792;ENST00000541898;ENST00000535288;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.69731	-0.5066	10	0.41790	T	0.15	-11.6127	17.466	0.87632	0.0:1.0:0.0:0.0	.	131	Q6NXE6	ARMC6_HUMAN	V	106;131;106;131;106;38;106;106;38;42;131	ENSP00000376147:A106V;ENSP00000444156:A131V;ENSP00000441948:A106V;ENSP00000269932:A106V;ENSP00000444341:A38V;ENSP00000446037:A106V;ENSP00000437580:A38V;ENSP00000376148:A131V	ENSP00000269932:A106V	A	+	2	0	ARMC6	19023543	1.000000	0.71417	0.981000	0.43875	0.829000	0.46940	7.095000	0.76952	2.351000	0.79841	0.462000	0.41574	GCG		0.642	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		14	20	0	0	0	1	0	14	20				
PCNXL3	399909	broad.mit.edu	37	11	65393124	65393124	+	Splice_Site	SNP	G	G	A	rs548248348	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65393124G>A	ENST00000355703.3	+	19	3676	c.3137G>A	c.(3136-3138)cGt>cAt	p.R1046H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1046						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCCTGCAGCGTGAGGTCTTG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		12862	0.002		0.0	False		,,,				2504	0.0					ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.e19-1		pecanex-like 3 (Drosophila)							65.0	60.0	62.0					11																	65393124		2195	4275	6470	SO:0001630	splice_region_variant	399909					integral to membrane		g.chr11:65393124G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3136-1G>A	11.37:g.65393124G>A							p.R1046_splice	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			19	3676	+			1046					Q6MZN8	Splice_Site	SNP	ENST00000355703.3	37	c.3135_splice	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468682	0.63625	.	.	ENSG00000197136	ENST00000355703	T	0.07021	3.23	5.34	4.42	0.53409	.	.	.	.	.	T	0.06872	0.0175	N	0.19112	0.55	0.30541	N	0.766476	D	0.62365	0.991	P	0.46299	0.511	T	0.07328	-1.0778	9	0.33940	T	0.23	.	7.2073	0.25915	0.1834:0.0:0.8166:0.0	.	1046	Q9H6A9	PCX3_HUMAN	H	1046	ENSP00000347931:R1046H	ENSP00000347931:R1046H	R	+	2	0	PCNXL3	65149700	0.989000	0.36119	0.998000	0.56505	0.324000	0.28378	2.061000	0.41403	2.522000	0.85027	0.655000	0.94253	CGT		0.622	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	Missense_Mutation	4	14	0	0	0	1	0	4	14				
EBI3	10148	broad.mit.edu	37	19	4234688	4234688	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4234688T>G	ENST00000221847.5	+	4	457	c.404T>G	c.(403-405)gTg>gGg	p.V135G		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	135	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGAAGGCGTGCGCCTAAGC	0.577																																						ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(403-405)gTg>gGg		Epstein-Barr virus induced 3							89.0	99.0	96.0					19																	4234688		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4234688T>G	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.404T>G	19.37:g.4234688T>G	ENSP00000221847:p.Val135Gly						p.V135G	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	4	457	+		Hepatocellular(1079;0.137)	135			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.404T>G	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.703050	0.30232	.	.	ENSG00000105246	ENST00000221847	T	0.61274	0.12	4.11	4.11	0.48088	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.229700	0.35067	N	0.003480	T	0.73393	0.3581	M	0.83774	2.66	0.25300	N	0.989283	D	0.63880	0.993	D	0.65874	0.939	T	0.66148	-0.5996	10	0.87932	D	0	-9.593	9.5623	0.39378	0.0:0.0:0.0:1.0	.	135	Q14213	IL27B_HUMAN	G	135	ENSP00000221847:V135G	ENSP00000221847:V135G	V	+	2	0	EBI3	4185688	0.891000	0.30450	0.039000	0.18376	0.041000	0.13682	2.546000	0.45778	1.764000	0.52075	0.449000	0.29647	GTG		0.577	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			29	49	0	0	0	1	0	29	49				
CHRM2	1129	broad.mit.edu	37	7	136700842	136700842	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:136700842C>T	ENST00000445907.2	+	3	1758	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	CHRM2_ENST00000401861.1_Silent_p.N410N|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.N410N|CHRM2_ENST00000453373.1_Silent_p.N410N|CHRM2_ENST00000397608.3_Silent_p.N410N|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.N410N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	410					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCTCATTAACACCTTTTGTG	0.473																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1228-1230)aaC>aaT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						255.0	207.0	223.0					7																	136700842		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700842C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1230C>T	7.37:g.136700842C>T						AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.N410N|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.N410N|CHRM2_ENST00000401861.1_Silent_p.N410N|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.N410N|CHRM2_ENST00000453373.1_Silent_p.N410N	p.N410N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	1758	+			410					Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1230C>T	CCDS5843.1																																																																																				0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			4	106	0	0	0	1	0	4	106				
PLXNB2	23654	broad.mit.edu	37	22	50720614	50720614	+	Splice_Site	SNP	G	G	A	rs372167877		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50720614G>A	ENST00000449103.1	-	19	3256	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PLXNB2_ENST00000359337.4_Splice_Site_p.T1039M|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1039	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGACTGACCGTCATGGGCTG	0.692																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.e19+1		plexin B2		G	MET/THR	0,4068		0,0,2034	23.0	26.0	25.0		3116	-1.2	0.8	22		25	1,8325		0,1,4162	no	missense-near-splice	PLXNB2	NM_012401.3	81	0,1,6196	AA,AG,GG		0.012,0.0,0.0081	benign	1039/1839	50720614	1,12393	2034	4163	6197	SO:0001630	splice_region_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720614G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3117+1C>T	22.37:g.50720614G>A						PLXNB2_ENST00000359337.4_Splice_Site_p.T1039_splice	p.T1039_splice			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	19	3256	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1039			IPT/TIG 3.		A6QRH0|Q7KZU3|Q9BSU7	Splice_Site	SNP	ENST00000449103.1	37	c.3117_splice	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174701	0.21704	0.0	1.2E-4	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.76968	-1.06;-1.06	4.59	-1.22	0.09494	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.384870	0.05045	N	0.477126	T	0.68595	0.3018	M	0.65498	2.005	0.09310	N	0.99999	P	0.38565	0.637	B	0.31245	0.126	T	0.55655	-0.8107	10	0.35671	T	0.21	.	3.1303	0.06421	0.3718:0.0:0.371:0.2572	.	1039	O15031	PLXB2_HUMAN	M	1039	ENSP00000409171:T1039M;ENSP00000352288:T1039M	ENSP00000352288:T1039M	T	-	2	0	PLXNB2	49062741	0.052000	0.20516	0.801000	0.32222	0.230000	0.25150	0.055000	0.14229	0.032000	0.15435	0.305000	0.20034	ACG		0.692	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	Missense_Mutation	12	13	0	0	0	1	0	12	13				
MTHFD1L	25902	broad.mit.edu	37	6	151247370	151247370	+	Missense_Mutation	SNP	C	C	T	rs151023222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151247370C>T	ENST00000367321.3	+	11	1469	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	399	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGCCAAAGTACGTTTGTCCGT	0.413																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1195-1197)Cgt>Tgt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	166.0	155.0	159.0		1198,1000,1195	4.3	0.1	6	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	400/980,334/914,399/979	151247370	1,13005	2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151247370C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1195C>T	6.37:g.151247370C>T	ENSP00000356290:p.Arg399Cys						p.R399C	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	11	1469	+		Ovarian(120;0.128)	399			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.1195C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565573	0.45694	0.0	1.16E-4	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.23147	1.92;1.92	6.03	4.26	0.50523	.	0.335084	0.36066	N	0.002815	T	0.12433	0.0302	L	0.46885	1.475	0.80722	D	1	B;B;B	0.21688	0.027;0.0;0.059	B;B;B	0.17433	0.018;0.001;0.016	T	0.03068	-1.1076	10	0.62326	D	0.03	.	13.1094	0.59265	0.0:0.8702:0.0:0.1298	.	400;154;399	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	C	399;70	ENSP00000356290:R399C;ENSP00000407070:R70C	ENSP00000356290:R399C	R	+	1	0	MTHFD1L	151289063	0.132000	0.22450	0.106000	0.21319	0.616000	0.37450	3.020000	0.49643	0.886000	0.36113	0.655000	0.94253	CGT		0.413	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		42	50	0	0	0	1	0	42	50				
ADCY9	115	broad.mit.edu	37	16	4016805	4016805	+	Silent	SNP	G	G	A	rs369874673		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4016805G>A	ENST00000294016.3	-	11	3571	c.3033C>T	c.(3031-3033)gaC>gaT	p.D1011D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1011					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGCTTCCACGTCTCCGTGGT	0.572																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3031-3033)gaC>gaT		adenylate cyclase 9							123.0	112.0	116.0					16																	4016805		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016805G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3033C>T	16.37:g.4016805G>A							p.D1011D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3571	-			1011					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3033C>T	CCDS32382.1																																																																																				0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			35	59	0	0	0	1	0	35	59				
CALM1	801	broad.mit.edu	37	14	90870762	90870762	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90870762G>A	ENST00000356978.4	+	5	573	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	CALM1_ENST00000447653.3_Missense_Mutation_p.V110I|CALM1_ENST00000553542.1_Missense_Mutation_p.V73I|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.V73I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	109	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	ACTACGTCACGTCATGACAAA	0.393																																						ENST00000356978.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10						c.(325-327)Gtc>Atc		calmodulin 1 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						136.0	124.0	128.0					14																	90870762		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90870762G>A		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.325G>A	14.37:g.90870762G>A	ENSP00000349467:p.Val109Ile					RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.V73I|CALM1_ENST00000447653.3_Missense_Mutation_p.V110I|CALM1_ENST00000553542.1_Missense_Mutation_p.V73I	p.V109I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	5	573	+		all_cancers(154;0.13)	109			EF-hand 3.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.325G>A	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651998	0.47362	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.52	5.52	0.82312	EF-hand-like domain (1);	0.064498	0.64402	N	0.000014	D	0.90229	0.6945	.	.	.	0.80722	D	1	B;B	0.23735	0.09;0.09	B;B	0.30029	0.035;0.11	D	0.87543	0.2460	9	0.87932	D	0	.	19.4361	0.94796	0.0:0.0:1.0:0.0	.	110;109	E7ETZ0;P62158	.;CALM_HUMAN	I	73;109;110;73;73	ENSP00000451062:V73I;ENSP00000349467:V109I;ENSP00000403491:V110I;ENSP00000450829:V73I;ENSP00000442853:V73I	ENSP00000349467:V109I	V	+	1	0	CALM1	89940515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.583000	0.87209	0.555000	0.69702	GTC		0.393	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			22	34	0	0	0	1	0	22	34				
LETM1	3954	broad.mit.edu	37	4	1834632	1834632	+	Missense_Mutation	SNP	G	G	A	rs144099418		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1834632G>A	ENST00000302787.2	-	6	1215	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	307	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGGAAAAACGCATGATTTCC	0.602																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(919-921)Cgt>Tgt		leucine zipper-EF-hand containing transmembrane protein 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	86.0	90.0		919	4.6	1.0	4	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LETM1	NM_012318.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	307/740	1834632	2,13004	2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1834632G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.919C>T	4.37:g.1834632G>A	ENSP00000305653:p.Arg307Cys						p.R307C	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		6	1215	-			307			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.919C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741092	0.69304	2.27E-4	1.16E-4	ENSG00000168924	ENST00000302787	T	0.45668	0.89	4.61	4.61	0.57282	LETM1-like (1);	0.057800	0.64402	D	0.000006	T	0.60508	0.2274	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.65018	-0.6270	10	0.87932	D	0	-12.0794	13.4205	0.60994	0.0:0.0:0.8324:0.1676	.	307	O95202	LETM1_HUMAN	C	307	ENSP00000305653:R307C	ENSP00000305653:R307C	R	-	1	0	LETM1	1804430	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.890000	0.56220	2.131000	0.65755	0.561000	0.74099	CGT		0.602	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			25	49	0	0	0	1	0	25	49				
AP1G2	8906	broad.mit.edu	37	14	24033829	24033829	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24033829G>A	ENST00000308724.5	-	8	1618	c.863C>T	c.(862-864)gCg>gTg	p.A288V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A288V|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	288					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AAACAGGACCGCATTTCCGGC	0.562																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(862-864)gCg>gTg		adaptor-related protein complex 1, gamma 2 subunit							136.0	98.0	111.0					14																	24033829		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033829G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.863C>T	14.37:g.24033829G>A	ENSP00000312442:p.Ala288Val					AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A288V|RP11-66N24.3_ENST00000555968.1_RNA	p.A288V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	8	1618	-	all_cancers(95;0.000251)		288					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.863C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199200	0.79015	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000535852	T;T	0.30714	1.52;1.52	3.98	3.98	0.46160	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.204155	0.41823	D	0.000814	T	0.61009	0.2313	M	0.89534	3.04	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.77004	0.985;0.989	T	0.70392	-0.4884	10	0.66056	D	0.02	-9.1326	13.6153	0.62103	0.0:0.0:1.0:0.0	.	288;143	O75843;Q86V28	AP1G2_HUMAN;.	V	288;288;143	ENSP00000312442:A288V;ENSP00000380309:A288V	ENSP00000312442:A288V	A	-	2	0	AP1G2	23103669	1.000000	0.71417	0.178000	0.23040	0.501000	0.33797	8.615000	0.90920	2.056000	0.61249	0.313000	0.20887	GCG		0.562	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		26	29	0	0	0	1	0	26	29				
PTGER2	5732	broad.mit.edu	37	14	52782026	52782026	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52782026G>A	ENST00000245457.5	+	1	914	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	PTGER2_ENST00000557436.1_5'UTR	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	254					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGGGGAAAGGGTGTCCATGGC	0.657																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(760-762)Gtg>Atg		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						41.0	46.0	45.0					14																	52782026		2203	4300	6503	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52782026G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.760G>A	14.37:g.52782026G>A	ENSP00000245457:p.Val254Met					PTGER2_ENST00000557436.1_5'UTR	p.V254M	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	914	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		254					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.760G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155443	0.21454	.	.	ENSG00000125384	ENST00000245457	T	0.71579	-0.58	4.6	-8.43	0.00953	GPCR, rhodopsin-like superfamily (1);	1.103120	0.06954	N	0.815205	T	0.40522	0.1120	N	0.10809	0.05	0.19945	N	0.999945	B	0.10296	0.003	B	0.12837	0.008	T	0.17715	-1.0360	10	0.34782	T	0.22	-1.4313	2.2045	0.03932	0.2873:0.3989:0.1135:0.2004	.	254	P43116	PE2R2_HUMAN	M	254	ENSP00000245457:V254M	ENSP00000245457:V254M	V	+	1	0	PTGER2	51851776	0.024000	0.19004	0.086000	0.20670	0.968000	0.65278	-0.474000	0.06607	-1.342000	0.02222	0.462000	0.41574	GTG		0.657	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			4	25	0	0	0	1	0	4	25				
CCDC67	159989	broad.mit.edu	37	11	93127645	93127645	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:93127645G>A	ENST00000298050.3	+	10	1162	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	CCDC67_ENST00000525646.1_Silent_p.Q96Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	354					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACTCCAACAGGTGGAAGAGT	0.383																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1060-1062)caG>caA		coiled-coil domain containing 67							60.0	52.0	55.0					11																	93127645		1863	4081	5944	SO:0001819	synonymous_variant	159989							g.chr11:93127645G>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1062G>A	11.37:g.93127645G>A						CCDC67_ENST00000525646.1_Silent_p.Q96Q	p.Q354Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			10	1162	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	354					Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	c.1062G>A	CCDS44707.1																																																																																				0.383	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		3	7	0	0	0	1	0	3	7				
FN3KRP	79672	broad.mit.edu	37	17	80678199	80678199	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80678199G>A	ENST00000269373.6	+	3	418	c.345G>A	c.(343-345)aaG>aaA	p.K115K	FN3KRP_ENST00000535965.1_Silent_p.K65K	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	115							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGATAACAAGAAGCTTGGAG	0.562																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(343-345)aaG>aaA		fructosamine 3 kinase related protein							83.0	72.0	76.0					17																	80678199		2203	4300	6503	SO:0001819	synonymous_variant	79672						kinase activity	g.chr17:80678199G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.345G>A	17.37:g.80678199G>A						FN3KRP_ENST00000535965.1_Silent_p.K65K	p.K115K	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		3	418	+	Breast(20;0.000523)|all_neural(118;0.0952)		115					Q969F4|Q9H0U7	Silent	SNP	ENST00000269373.6	37	c.345G>A	CCDS11817.1																																																																																				0.562	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		26	46	0	0	0	1	0	26	46				
ITGAD	3681	broad.mit.edu	37	16	31434701	31434701	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31434701C>T	ENST00000389202.2	+	25	2937	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	963					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGATCTGGCCATCAGCATT	0.547																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2887-2889)gCc>gTc		integrin, alpha D							164.0	140.0	148.0					16																	31434701		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434701C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2888C>T	16.37:g.31434701C>T	ENSP00000373854:p.Ala963Val						p.A963V	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			25	2937	+			963					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2888C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048229	0.36181	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.47528	0.84	5.39	2.19	0.27852	Integrin alpha-2 (1);	.	.	.	.	T	0.31167	0.0788	L	0.27053	0.805	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.15484	0.013;0.013	T	0.21895	-1.0232	9	0.51188	T	0.08	.	4.6596	0.12636	0.1707:0.6476:0.0:0.1817	.	979;963	Q59H14;Q13349	.;ITAD_HUMAN	V	979;963	ENSP00000373854:A963V	ENSP00000373854:A963V	A	+	2	0	ITGAD	31342202	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.709000	0.25734	0.636000	0.30508	0.650000	0.86243	GCC		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		16	30	0	0	0	1	0	16	30				
CROCCP2	84809	broad.mit.edu	37	1	16945623	16945623	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16945623G>A	ENST00000412962.1	-	0	1896				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGGACAAAGGGCTTGGGGGAT	0.612																																						ENST00000412962.1																			0																																																			0							g.chr1:16945623G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945623G>A														0	1896	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		17	234	0	0	0	1	0	17	234				
MAGI1	9223	broad.mit.edu	37	3	65342334	65342334	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:65342334G>A	ENST00000402939.2	-	23	4107	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1399					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GACCGTCTCCGCCGGCTGGGG	0.697																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4108-4110)Cgg>Tgg		membrane associated guanylate kinase, WW and PDZ domain containing 1							26.0	30.0	29.0					3																	65342334		2197	4295	6492	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342334G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4108C>T	3.37:g.65342334G>A	ENSP00000385450:p.Arg1370Trp					MAGI1_ENST00000330909.8_3'UTR	p.R1370W	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4107	-		Lung NSC(201;0.0016)	1399					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4108C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814821	0.32053	.	.	ENSG00000151276	ENST00000402939	T	0.13901	2.55	5.31	4.41	0.53225	.	0.329934	0.28057	N	0.016761	T	0.24890	0.0604	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.01393	-1.1366	10	0.72032	D	0.01	-8.6838	13.5723	0.61853	0.0:0.0:0.7173:0.2827	.	1370	Q96QZ7-2	.	W	1370	ENSP00000385450:R1370W	ENSP00000385450:R1370W	R	-	1	2	MAGI1	65317374	0.999000	0.42202	0.326000	0.25389	0.201000	0.24016	4.014000	0.57145	1.188000	0.43014	0.655000	0.94253	CGG		0.697	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		12	45	0	0	0	1	0	12	45				
FBXO6	26270	broad.mit.edu	37	1	11733379	11733379	+	Silent	SNP	G	G	C	rs150995826	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11733379G>C	ENST00000376753.4	+	5	690	c.555G>C	c.(553-555)gtG>gtC	p.V185V		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	185	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AACTCAAAGTGCAGCTGGCCT	0.622																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(553-555)gtG>gtC		F-box protein 6							71.0	61.0	64.0					1																	11733379		2203	4300	6503	SO:0001819	synonymous_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733379G>C	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.555G>C	1.37:g.11733379G>C							p.V185V	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	5	690	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	185			FBA.		B1AK42|B2RC88|Q9UKT3	Silent	SNP	ENST00000376753.4	37	c.555G>C	CCDS133.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162402	0.01673	.	.	ENSG00000116663	ENST00000449067	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.46701	D	0.999166	.	.	.	.	.	.	T	0.60875	-0.7176	4	.	.	.	.	8.6486	0.34020	0.111:0.1699:0.6389:0.0802	.	.	.	.	S	141	.	.	C	+	2	0	FBXO6	11655966	0.009000	0.17119	0.003000	0.11579	0.003000	0.03518	-0.653000	0.05360	-3.514000	0.00149	-0.379000	0.06801	TGC		0.622	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		4	17	0	0	0	1	0	4	17				
FOXM1	2305	broad.mit.edu	37	12	2983405	2983405	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2983405G>A	ENST00000359843.3	-	2	308	c.240C>T	c.(238-240)aaC>aaT	p.N80N	FOXM1_ENST00000342628.2_Silent_p.N80N|RHNO1_ENST00000461997.2_5'Flank|FOXM1_ENST00000361953.3_Silent_p.N80N|RHNO1_ENST00000489288.2_5'Flank|FOXM1_ENST00000537018.1_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	80					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TATTAGCATTGTTGGGGATGG	0.507																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(238-240)aaC>aaT		forkhead box M1							164.0	138.0	147.0					12																	2983405		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983405G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.240C>T	12.37:g.2983405G>A						FOXM1_ENST00000361953.3_Silent_p.N80N|FOXM1_ENST00000359843.3_Silent_p.N80N	p.N80N	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	353	-			80					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.240C>T	CCDS8515.1																																																																																				0.507	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		25	40	0	0	0	1	0	25	40				
ABCC5	10057	broad.mit.edu	37	3	183689508	183689508	+	Missense_Mutation	SNP	C	C	T	rs550542220		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183689508C>T	ENST00000334444.6	-	11	1844	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ABCC5_ENST00000265586.6_Missense_Mutation_p.R535H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	535					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R535L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATGCTCAGTGCGCTGCAGCTG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16459	0.0		0.0	False		,,,				2504	0.0					ENST00000334444.6																			1	Substitution - Missense(1)	p.R535L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1603-1605)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							80.0	84.0	83.0					3																	183689508		2083	4221	6304	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183689508C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1604G>A	3.37:g.183689508C>T	ENSP00000333926:p.Arg535His					ABCC5_ENST00000265586.6_Missense_Mutation_p.R535H	p.R535H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		11	1844	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		535					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1604G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651538	0.29336	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91792	-2.71;-2.91	5.56	-2.5	0.06384	ABC transporter, transmembrane domain, type 1 (1);	0.864225	0.10581	N	0.657898	T	0.79857	0.4518	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.65602	-0.6128	10	0.33141	T	0.24	0.2068	7.938	0.29941	0.0:0.3277:0.1129:0.5593	.	535;535	Q86UX3;O15440	.;MRP5_HUMAN	H	535;471;535	ENSP00000333926:R535H;ENSP00000265586:R535H	ENSP00000265586:R535H	R	-	2	0	ABCC5	185172202	0.009000	0.17119	0.209000	0.23619	0.924000	0.55760	-0.044000	0.12023	-0.307000	0.08804	0.655000	0.94253	CGC		0.582	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	34	0	0	0	1	0	6	34				
CAMKK2	10645	broad.mit.edu	37	12	121712246	121712246	+	Silent	SNP	G	G	A	rs146079022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121712246G>A	ENST00000324774.5	-	2	912	c.84C>T	c.(82-84)agC>agT	p.S28S	CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Silent_p.S28S|CAMKK2_ENST00000347034.2_Silent_p.S28S|CAMKK2_ENST00000404169.3_Silent_p.S28S|CAMKK2_ENST00000392473.2_Silent_p.S28S|CAMKK2_ENST00000412367.2_Silent_p.S28S|CAMKK2_ENST00000538733.1_Silent_p.S28S|CAMKK2_ENST00000337174.3_Silent_p.S28S|CAMKK2_ENST00000402834.4_Silent_p.S28S|CAMKK2_ENST00000392474.2_Silent_p.S28S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	28					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGGCTTTCGCTGCTGCTGC	0.647																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(82-84)agC>agT		calcium/calmodulin-dependent protein kinase kinase 2, beta		G	,,,,,,	1,4391		0,1,2195	16.0	18.0	17.0		84,84,84,84,84,84,84	-1.3	0.9	12	dbSNP_134	17	0,8566		0,0,4283	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAMKK2	NM_006549.3,NM_153499.2,NM_153500.1,NM_172214.2,NM_172215.2,NM_172216.1,NM_172226.2	,,,,,,	0,1,6478	AA,AG,GG		0.0,0.0228,0.0077	,,,,,,	28/589,28/542,28/499,28/534,28/491,28/546,28/542	121712246	1,12957	2196	4283	6479	SO:0001819	synonymous_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121712246G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.84C>T	12.37:g.121712246G>A						CAMKK2_ENST00000538733.1_Silent_p.S28S|CAMKK2_ENST00000412367.2_Silent_p.S28S|CAMKK2_ENST00000337174.3_Silent_p.S28S|CAMKK2_ENST00000446440.2_Silent_p.S28S|CAMKK2_ENST00000402834.4_Silent_p.S28S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392474.2_Silent_p.S28S|CAMKK2_ENST00000347034.2_Silent_p.S28S|CAMKK2_ENST00000404169.3_Silent_p.S28S|CAMKK2_ENST00000392473.2_Silent_p.S28S	p.S28S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			2	912	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		28					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	c.84C>T	CCDS9216.1																																																																																				0.647	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		9	7	0	0	0	1	0	9	7				
SLC2A7	155184	broad.mit.edu	37	1	9067389	9067389	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9067389G>A	ENST00000400906.1	-	10	1171	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	391					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGAATGTCCCGCGATGTAGGC	0.627																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(1171-1173)gCg>gTg		solute carrier family 2 (facilitated glucose transporter), member 7							154.0	118.0	130.0					1																	9067389		2203	4300	6503	SO:0001583	missense	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9067389G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1172C>T	1.37:g.9067389G>A	ENSP00000383698:p.Ala391Val						p.A391V	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1171	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	391					A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	c.1172C>T	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	0.556	-0.847276	0.02651	.	.	ENSG00000197241	ENST00000400906	T	0.59224	0.28	3.8	0.84	0.18912	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.554792	0.15604	N	0.253742	T	0.27559	0.0677	N	0.05441	-0.05	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.27262	-1.0079	10	0.02654	T	1	.	6.7763	0.23621	0.5849:0.0:0.4151:0.0	.	391	Q6PXP3	GTR7_HUMAN	V	391	ENSP00000383698:A391V	ENSP00000383698:A391V	A	-	2	0	SLC2A7	8989976	0.403000	0.25319	0.751000	0.31187	0.782000	0.44232	2.269000	0.43346	-0.009000	0.14296	-0.355000	0.07637	GCG		0.627	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		11	17	0	0	0	1	0	11	17				
YWHAQ	10971	broad.mit.edu	37	2	9731520	9731520	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:9731520C>T	ENST00000381844.4	-	2	582		c.e2+1		YWHAQ_ENST00000474715.1_Splice_Site|YWHAQ_ENST00000238081.3_Splice_Site			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		AATAAACTTACGTTTTCGATC	0.383																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.e2+1		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							85.0	81.0	82.0					2																	9731520		2203	4300	6503	SO:0001630	splice_region_variant	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9731520C>T	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.418+1G>A	2.37:g.9731520C>T						YWHAQ_ENST00000238081.3_Splice_Site|YWHAQ_ENST00000474715.1_Splice_Site				P27348	1433T_HUMAN		Epithelial(75;0.241)	2	582	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	SNP	ENST00000381844.4	37		CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666899	0.88251	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YWHAQ	9648971	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.681000	0.84073	2.649000	0.89929	0.585000	0.79938	.		0.383	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	Intron	14	31	0	0	0	1	0	14	31				
PUS7	54517	broad.mit.edu	37	7	105148785	105148785	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:105148785G>A	ENST00000356362.2	-	2	389	c.175C>T	c.(175-177)Cct>Tct	p.P59S	PUS7_ENST00000469408.1_Missense_Mutation_p.P59S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	59					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GGAGGCCGAGGCACGTCTTCA	0.478																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(175-177)Cct>Tct		pseudouridylate synthase 7 homolog (S. cerevisiae)							242.0	209.0	220.0					7																	105148785		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148785G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.175C>T	7.37:g.105148785G>A	ENSP00000348722:p.Pro59Ser					PUS7_ENST00000469408.1_Missense_Mutation_p.P59S	p.P59S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	389	-			59					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.175C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086630	0.20390	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40756	1.02;1.02	5.71	4.75	0.60458	.	0.466770	0.20225	N	0.096620	T	0.31765	0.0807	L	0.40543	1.245	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.12167	-1.0558	10	0.10902	T	0.67	-3.7526	12.9595	0.58449	0.0:0.0:0.7933:0.2067	.	59;59	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	59	ENSP00000348722:P59S;ENSP00000417402:P59S	ENSP00000348722:P59S	P	-	1	0	PUS7	104936021	0.459000	0.25768	0.107000	0.21349	0.040000	0.13550	1.788000	0.38714	2.691000	0.91804	0.561000	0.74099	CCT		0.478	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		41	65	0	0	0	1	0	41	65				
NUP62	23636	broad.mit.edu	37	19	50412681	50412681	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50412681G>A	ENST00000596217.1	-	2	2271	c.384C>T	c.(382-384)acC>acT	p.T128T	NUP62_ENST00000597723.1_Silent_p.T128T|NUP62_ENST00000413454.1_Silent_p.T128T|NUP62_ENST00000422090.2_Silent_p.T128T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.T128T|NUP62_ENST00000597029.1_Silent_p.T128T			P37198	NUP62_HUMAN	nucleoporin 62kDa	128	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGAGGTGACGGTGCTCGATA	0.597																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(382-384)acC>acT		nucleoporin 62kDa							69.0	72.0	71.0					19																	50412681		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412681G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.384C>T	19.37:g.50412681G>A						NUP62_ENST00000597029.1_Silent_p.T128T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T128T|NUP62_ENST00000597723.1_Silent_p.T128T|NUP62_ENST00000413454.1_Silent_p.T128T|NUP62_ENST00000352066.3_Silent_p.T128T|IL4I1_ENST00000341114.3_Intron	p.T128T			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2271	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	128			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.384C>T	CCDS12788.1																																																																																				0.597	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		18	31	0	0	0	1	0	18	31				
GMPPB	29925	broad.mit.edu	37	3	49755492	49755492	+	3'UTR	SNP	C	C	A	rs149938600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49755492C>A	ENST00000480687.1	-	0	4892				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q469H|AMIGO3_ENST00000535833.1_Missense_Mutation_p.Q469H|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTACTGCCAGCTGCACGCGGC	0.637																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(1405-1407)caG>caT		adhesion molecule with Ig-like domain 3		C	,HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	66.0		,1407	4.4	1.0	3	dbSNP_134	66	0,8600		0,0,4300	no	intron,missense	RNF123,AMIGO3	NM_022064.2,NM_198722.2	,24	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	,probably-damaging	,469/505	49755492	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755492C>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3693G>T	3.37:g.49755492C>A						GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q469H|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron	p.Q469H			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4857	-			469					A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.1407G>T	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738608	0.69304	2.27E-4	0.0	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.59502	0.26;0.26	5.45	4.38	0.52667	.	0.378197	0.25517	N	0.030135	T	0.51398	0.1672	L	0.36672	1.1	0.80722	D	1	D	0.56968	0.978	P	0.49012	0.598	T	0.54330	-0.8310	10	0.72032	D	0.01	-25.6187	7.7501	0.28892	0.0:0.7314:0.1697:0.0988	.	469	Q86WK7	AMGO3_HUMAN	H	469	ENSP00000323096:Q469H;ENSP00000439268:Q469H	ENSP00000323096:Q469H	Q	-	3	2	AMIGO3	49730496	0.960000	0.32886	1.000000	0.80357	0.984000	0.73092	0.128000	0.15810	2.573000	0.86826	0.561000	0.74099	CAG		0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		22	39	1	0	8.04996e-18	1	8.87193e-18	22	39				
PLPPR2	64748	broad.mit.edu	37	19	11474850	11474850	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11474850G>A	ENST00000251473.5	+	9	1337	c.961G>A	c.(961-963)Gca>Aca	p.A321T	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.C301Y	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCCGAGGTCTGCAGGCCGCAT	0.652																																						ENST00000251473.5																			0											c.(961-963)Gca>Aca									69.0	78.0	75.0					19																	11474850		2203	4300	6503	SO:0001583	missense	0							g.chr19:11474850G>A																												ENST00000251473.5:c.961G>A	19.37:g.11474850G>A	ENSP00000251473:p.Ala321Thr					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.C301Y	p.A321T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					9	1337	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.961G>A	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085648	0.36758	.	.	ENSG00000105520	ENST00000251473	T	0.30981	1.51	4.3	3.24	0.37175	.	27.556500	0.00991	N	0.003520	T	0.21881	0.0527	.	.	.	0.38541	D	0.949217	B	0.20780	0.048	B	0.24006	0.05	T	0.16394	-1.0404	9	0.10636	T	0.68	.	10.3849	0.44134	0.0:0.1982:0.8017:0.0	.	321	Q96GM1	LPPR2_HUMAN	T	321	ENSP00000251473:A321T	ENSP00000251473:A321T	A	+	1	0	AC024575.1	11335850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.307000	0.33516	1.133000	0.42147	0.491000	0.48974	GCA		0.652	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			30	61	0	0	0	1	0	30	61				
GBP1	2633	broad.mit.edu	37	1	89522750	89522750	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89522750G>A	ENST00000370473.4	-	7	1161	c.942C>T	c.(940-942)aaC>aaT	p.N314N	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	314					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGGACTGCGTTCTCCATGC	0.532																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(940-942)aaC>aaT		guanylate binding protein 1, interferon-inducible							116.0	99.0	105.0					1																	89522750		2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89522750G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.942C>T	1.37:g.89522750G>A							p.N314N	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	7	1161	-		Lung NSC(277;0.123)	314					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.942C>T	CCDS718.1																																																																																				0.532	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		22	35	0	0	0	1	0	22	35				
EPC1	80314	broad.mit.edu	37	10	32576142	32576142	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32576142G>A	ENST00000263062.8	-	7	1305	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	EPC1_ENST00000319778.6_Missense_Mutation_p.P346S|EPC1_ENST00000375110.2_Missense_Mutation_p.P296S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	346					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCAGACGATGGTAAGACTTTG	0.448																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1036-1038)Cca>Tca		enhancer of polycomb homolog 1 (Drosophila)							153.0	130.0	138.0					10																	32576142		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32576142G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1036C>T	10.37:g.32576142G>A	ENSP00000263062:p.Pro346Ser					EPC1_ENST00000263062.8_Missense_Mutation_p.P346S|EPC1_ENST00000375110.2_Missense_Mutation_p.P296S	p.P346S	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			7	1338	-		Prostate(175;0.0199)	346					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1036C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570036	0.65765	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67345	-0.26;-0.26;-0.26	5.7	4.75	0.60458	.	0.138857	0.46442	D	0.000299	T	0.79522	0.4460	M	0.71581	2.175	0.80722	D	1	B;D;B;B	0.89917	0.038;1.0;0.383;0.0	B;D;B;B	0.87578	0.032;0.998;0.236;0.004	T	0.73911	-0.3833	10	0.13108	T	0.6	-11.1893	18.3181	0.90227	0.0:0.1285:0.8715:0.0	.	346;296;346;346	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	296;346;346	ENSP00000364251:P296S;ENSP00000318559:P346S;ENSP00000263062:P346S	ENSP00000263062:P346S	P	-	1	0	EPC1	32616148	1.000000	0.71417	0.979000	0.43373	0.943000	0.58893	6.629000	0.74267	2.691000	0.91804	0.557000	0.71058	CCA		0.448	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			45	46	0	0	0	1	0	45	46				
CHRNB1	1140	broad.mit.edu	37	17	7351905	7351905	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7351905C>T	ENST00000306071.2	+	7	685	c.618C>T	c.(616-618)ggC>ggT	p.G206G	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Silent_p.G134G|CHRNB1_ENST00000536404.2_Silent_p.G134G	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	206					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CAGAGAATGGCCAGTGGGAGA	0.572																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(616-618)ggC>ggT		cholinergic receptor, nicotinic, beta 1 (muscle)							62.0	50.0	54.0					17																	7351905		2203	4300	6503	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7351905C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.618C>T	17.37:g.7351905C>T						CHRNB1_ENST00000536404.2_Silent_p.G134G|CHRNB1_ENST00000576360.1_Silent_p.G134G	p.G206G	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			7	685	+		Prostate(122;0.157)	206					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.618C>T	CCDS11106.1																																																																																				0.572	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			7	9	0	0	0	1	0	7	9				
BAI2	576	broad.mit.edu	37	1	32204494	32204494	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32204494C>T	ENST00000373658.3	-	16	2881	c.2540G>A	c.(2539-2541)cGc>cAc	p.R847H	BAI2_ENST00000398542.1_Missense_Mutation_p.R780H|BAI2_ENST00000440175.2_Missense_Mutation_p.R489H|BAI2_ENST00000398547.1_Missense_Mutation_p.R780H|BAI2_ENST00000257070.4_Missense_Mutation_p.R847H|BAI2_ENST00000398538.1_Missense_Mutation_p.R835H|BAI2_ENST00000398556.3_Missense_Mutation_p.R795H|BAI2_ENST00000527361.1_Missense_Mutation_p.R847H|BAI2_ENST00000373655.2_Missense_Mutation_p.R847H|BAI2_ENST00000465256.1_5'Flank	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	847					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTAGGGGGGCGCACAGTCAC	0.627																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2539-2541)cGc>cAc		brain-specific angiogenesis inhibitor 2							77.0	85.0	82.0					1																	32204494		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204494C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2540G>A	1.37:g.32204494C>T	ENSP00000362762:p.Arg847His					BAI2_ENST00000398538.1_Missense_Mutation_p.R835H|BAI2_ENST00000527361.1_Missense_Mutation_p.R847H|BAI2_ENST00000373655.2_Missense_Mutation_p.R847H|BAI2_ENST00000398542.1_Missense_Mutation_p.R780H|BAI2_ENST00000440175.2_Missense_Mutation_p.R489H|BAI2_ENST00000398556.3_Missense_Mutation_p.R795H|BAI2_ENST00000398547.1_Missense_Mutation_p.R780H|BAI2_ENST00000257070.4_Missense_Mutation_p.R847H	p.R847H	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2881	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	847					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.2540G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874581	0.72180	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	4.92	4.92	0.64577	Domain of unknown function DUF3497 (1);	0.185308	0.25994	N	0.026986	T	0.15435	0.0372	L	0.44542	1.39	0.36609	D	0.875108	P;P;P;P;P;P	0.52842	0.956;0.855;0.763;0.721;0.956;0.88	P;B;B;B;P;P	0.47981	0.563;0.396;0.124;0.393;0.563;0.532	T	0.06197	-1.0840	10	0.31617	T	0.26	.	9.6925	0.40136	0.0:0.9045:0.0:0.0955	.	847;835;489;780;847;847	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	H	795;780;847;847;780;847;847;489;835;785	ENSP00000381564:R795H;ENSP00000381555:R780H;ENSP00000362762:R847H;ENSP00000362759:R847H;ENSP00000381550:R780H;ENSP00000257070:R847H;ENSP00000435397:R847H;ENSP00000391071:R489H;ENSP00000381548:R835H;ENSP00000410921:R785H	ENSP00000257070:R847H	R	-	2	0	BAI2	31977081	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.715000	0.54897	2.445000	0.82738	0.655000	0.94253	CGC		0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		18	62	0	0	0	1	0	18	62				
LIPG	9388	broad.mit.edu	37	18	47093932	47093932	+	Missense_Mutation	SNP	G	G	A	rs144530815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47093932G>A	ENST00000261292.4	+	3	678	c.400G>A	c.(400-402)Gcg>Acg	p.A134T	LIPG_ENST00000580036.1_Missense_Mutation_p.A134T|LIPG_ENST00000577628.1_Missense_Mutation_p.A170T|LIPG_ENST00000427224.2_Missense_Mutation_p.A134T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	134					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTACACGGATGCGGTCAATAA	0.572																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(400-402)Gcg>Acg		lipase, endothelial		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	73.0	78.0		400	5.1	0.1	18	dbSNP_134	78	0,8600		0,0,4300	no	missense	LIPG	NM_006033.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	134/501	47093932	1,13005	2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47093932G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.400G>A	18.37:g.47093932G>A	ENSP00000261292:p.Ala134Thr					LIPG_ENST00000577628.1_Missense_Mutation_p.A170T|LIPG_ENST00000580036.1_Missense_Mutation_p.A134T|LIPG_ENST00000427224.2_Missense_Mutation_p.A134T	p.A134T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			3	678	+			134					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.400G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594341	0.86953	2.27E-4	0.0	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.94862	-3.54;-3.54	5.13	5.13	0.70059	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98455	1.0593	10	0.87932	D	0	-22.4043	18.6133	0.91294	0.0:0.0:1.0:0.0	.	134;134;134	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	T	134	ENSP00000261292:A134T;ENSP00000387978:A134T	ENSP00000261292:A134T	A	+	1	0	LIPG	45347930	1.000000	0.71417	0.101000	0.21167	0.362000	0.29581	7.791000	0.85805	2.396000	0.81511	0.561000	0.74099	GCG		0.572	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		16	22	0	0	0	1	0	16	22				
WNT6	7475	broad.mit.edu	37	2	219738492	219738492	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219738492G>A	ENST00000233948.3	+	4	1240	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	341					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAACTGCCTGTGCCGCTTCC	0.697																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(1021-1023)ctG>ctA		wingless-type MMTV integration site family, member 6							13.0	10.0	11.0					2																	219738492		2141	4201	6342	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219738492G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.1023G>A	2.37:g.219738492G>A							p.L341L	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1240	+		Renal(207;0.0474)	341					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.1023G>A	CCDS2425.1																																																																																				0.697	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		11	4	0	0	0	1	0	11	4				
EDIL3	10085	broad.mit.edu	37	5	83259056	83259056	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:83259056C>T	ENST00000296591.5	-	10	1679	c.1261G>A	c.(1261-1263)Gta>Ata	p.V421I	EDIL3_ENST00000380138.3_Missense_Mutation_p.V411I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	421	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCCTGGTATACAGTCCAGTGT	0.393																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(1261-1263)Gta>Ata		EGF-like repeats and discoidin I-like domains 3							204.0	200.0	201.0					5																	83259056		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83259056C>T	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1261G>A	5.37:g.83259056C>T	ENSP00000296591:p.Val421Ile					EDIL3_ENST00000380138.3_Missense_Mutation_p.V411I	p.V421I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	10	1679	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	421			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.1261G>A	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025715	0.19512	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98192	-4.78;-4.78	5.72	2.97	0.34412	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.382741	0.28665	N	0.014551	D	0.92208	0.7529	N	0.05012	-0.13	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	D	0.83749	0.0208	10	0.18276	T	0.48	-14.4535	9.3299	0.38016	0.0:0.6628:0.0:0.3372	.	411;421	O43854-2;O43854	.;EDIL3_HUMAN	I	421;411	ENSP00000296591:V421I;ENSP00000369483:V411I	ENSP00000296591:V421I	V	-	1	0	EDIL3	83294812	0.245000	0.23899	0.828000	0.32881	0.997000	0.91878	0.800000	0.27042	0.782000	0.33613	0.650000	0.86243	GTA		0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		10	79	0	0	0	1	0	10	79				
WDFY3	23001	broad.mit.edu	37	4	85611673	85611673	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85611673C>T	ENST00000295888.4	-	61	9756	c.9349G>A	c.(9349-9351)Gtc>Atc	p.V3117I	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.V3100I	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3117	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGGGTGACGGTCTTGGCC	0.498																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9298-9300)Gtc>Atc		WD repeat and FYVE domain containing 3							205.0	173.0	184.0					4																	85611673		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611673C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9349G>A	4.37:g.85611673C>T	ENSP00000295888:p.Val3117Ile					WDFY3_ENST00000295888.4_Missense_Mutation_p.V3117I	p.V3100I			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9705	-		Hepatocellular(203;0.114)	3117					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9298G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875351	0.51695	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.28895	1.59;1.59	6.02	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.128776	0.53938	D	0.000056	T	0.20455	0.0492	N	0.11131	0.1	0.30464	N	0.774038	B	0.02656	0.0	B	0.01281	0.0	T	0.06445	-1.0826	10	0.42905	T	0.14	.	17.4372	0.87555	0.0:0.1254:0.8746:0.0	.	3117	Q8IZQ1	WDFY3_HUMAN	I	3100;3117	ENSP00000318466:V3100I;ENSP00000295888:V3117I	ENSP00000295888:V3117I	V	-	1	0	WDFY3	85830697	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	5.570000	0.67398	1.556000	0.49512	-0.139000	0.14373	GTC		0.498	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		15	31	0	0	0	1	0	15	31				
MPHOSPH9	10198	broad.mit.edu	37	12	123650019	123650019	+	Missense_Mutation	SNP	C	C	T	rs201725214		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123650019C>T	ENST00000606320.1	-	18	2803	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R836H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R714H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	866						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAGAGGTGAACGGTGCCTTAA	0.423																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2596-2598)cGt>cAt		M-phase phosphoprotein 9							92.0	89.0	90.0					12																	123650019		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123650019C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2597G>A	12.37:g.123650019C>T	ENSP00000475489:p.Arg866His					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R714H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R836H	p.R866H			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2803	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		714					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2597G>A		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808292	0.00606	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.28454	1.61;1.62	5.95	-2.4	0.06583	.	0.782722	0.12413	N	0.471098	T	0.04048	0.0113	N	0.00128	-2.045	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.05351	T	0.99	0.2431	3.8468	0.08937	0.2427:0.2816:0.0:0.4757	.	714	Q99550	MPP9_HUMAN	H	714	ENSP00000303597:R714H;ENSP00000445859:R714H	ENSP00000303597:R714H	R	-	2	0	MPHOSPH9	122215972	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	0.636000	0.24644	-0.673000	0.05259	-0.983000	0.02560	CGT		0.423	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			5	74	0	0	0	1	0	5	74				
BCOR	54880	broad.mit.edu	37	X	39930266	39930266	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:39930266G>T	ENST00000378444.4	-	6	3426	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	BCOR_ENST00000342274.4_Silent_p.T1066T|BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000397354.3_Silent_p.T1066T|BCOR_ENST00000378455.4_Silent_p.T1048T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1066					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTCCTCCAGGGTGACCGACT	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3196-3198)acC>acA		BCL6 corepressor							208.0	158.0	175.0					X																	39930266		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39930266G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3198C>A	X.37:g.39930266G>T						BCOR_ENST00000378444.4_Silent_p.T1066T|BCOR_ENST00000378455.4_Silent_p.T1048T|BCOR_ENST00000397354.3_Silent_p.T1066T	p.T1066T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			6	3560	-			1066					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.3198C>A	CCDS48093.1																																																																																				0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		21	8	1	0	2.48779e-11	1	2.67617e-11	21	8				
F13B	2165	broad.mit.edu	37	1	197009752	197009752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197009752C>A	ENST00000367412.1	-	11	1895	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	618	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAGTATCTCCTCTACAAATA	0.313																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1852-1854)Gga>Tga		coagulation factor XIII, B polypeptide							72.0	73.0	73.0					1																	197009752		2201	4292	6493	SO:0001587	stop_gained	2165				blood coagulation	extracellular region		g.chr1:197009752C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1852G>T	1.37:g.197009752C>A	ENSP00000356382:p.Gly618*					F13B_ENST00000490002.1_5'UTR	p.G618*	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			11	1895	-			618			Sushi 10.		A8K3E5|Q5VYL5	Nonsense_Mutation	SNP	ENST00000367412.1	37	c.1852G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451863	0.43531	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.59	-9.19	0.00685	.	0.834325	0.09805	N	0.753613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.903	0.70696	0.0:0.6149:0.0975:0.2877	.	.	.	.	X	618	.	ENSP00000356382:G618X	G	-	1	0	F13B	195276375	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.316000	0.02710	-2.024000	0.00936	-0.880000	0.02959	GGA		0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		15	24	1	0	3.35478e-16	1	3.68069e-16	15	24				
OSR2	116039	broad.mit.edu	37	8	99961116	99961116	+	5'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:99961116G>A	ENST00000297565.4	+	0	432				OSR2_ENST00000522510.1_5'UTR|OSR2_ENST00000457907.2_Missense_Mutation_p.R100H|OSR2_ENST00000523368.1_5'UTR|OSR2_ENST00000435298.2_5'UTR	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGAGCCCCACGCCCTCCGGCC	0.587																																						ENST00000457907.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(298-300)cGc>cAc		odd-skipped related transciption factor 2																																				SO:0001623	5_prime_UTR_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961116G>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.-65G>A	8.37:g.99961116G>A						OSR2_ENST00000522510.1_5'UTR|OSR2_ENST00000297565.4_5'UTR|OSR2_ENST00000523368.1_5'UTR|OSR2_ENST00000435298.2_5'UTR	p.R100H			Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		3	464	+	Breast(36;4.14e-07)		0					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.299G>A	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.868088	0.32977	.	.	ENSG00000164920	ENST00000457907;ENST00000520951	T;T	0.10860	2.83;3.12	4.04	0.98	0.19750	.	.	.	.	.	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43212	-0.9405	7	.	.	.	.	7.9841	0.30200	0.3984:0.0:0.6016:0.0	.	100	B4E3B7	.	H	100;32	ENSP00000414657:R100H;ENSP00000430074:R32H	.	R	+	2	0	OSR2	100030292	0.003000	0.15002	0.032000	0.17829	0.014000	0.08584	0.895000	0.28363	0.176000	0.19873	0.655000	0.94253	CGC		0.587	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		8	11	0	0	0	1	0	8	11				
PKD1L2	114780	broad.mit.edu	37	16	81236213	81236213	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81236213C>T	ENST00000525539.1	-	0	1034				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCACACTGAGCGTCTCCATCT	0.577																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1033-1035)acG>acA		polycystic kidney disease 1-like 2							61.0	68.0	65.0					16																	81236213		2172	4270	6442			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236213C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236213C>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.T345T			Q7Z442	PK1L2_HUMAN			6	1034	-			345					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1035G>A																																																																																					0.577	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			22	25	0	0	0	1	0	22	25				
IBTK	25998	broad.mit.edu	37	6	82922423	82922423	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:82922423C>T	ENST00000306270.7	-	13	2841		c.e13+1		IBTK_ENST00000503631.1_Splice_Site|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000510291.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCTTACTTACCATTTTTTCT	0.333																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.e13+1		inhibitor of Bruton agammaglobulinemia tyrosine kinase							178.0	158.0	165.0					6																	82922423		2203	4299	6502	SO:0001630	splice_region_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82922423C>T	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2291+1G>A	6.37:g.82922423C>T						IBTK_ENST00000503631.1_Splice_Site|IBTK_ENST00000510291.1_Splice_Site		NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	13	2841	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)						Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37		CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120653	0.77323	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6923	0.96007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82979142	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.385000	0.73182	2.830000	0.97506	0.585000	0.79938	.		0.333	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Intron	4	25	0	0	0	1	0	4	25				
IKZF2	22807	broad.mit.edu	37	2	213921699	213921699	+	Silent	SNP	G	G	A	rs374835918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:213921699G>A	ENST00000434687.1	-	5	573	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000457361.1_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(262-264)agC>agT		IKAROS family zinc finger 2 (Helios)		G	,	0,4406		0,0,2203	122.0	110.0	114.0		264,264	3.9	1.0	2		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IKZF2	NM_001079526.1,NM_016260.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	88/501,88/527	213921699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921699G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.264C>T	2.37:g.213921699G>A						IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S	p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	432	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	88					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.264C>T	CCDS2395.1																																																																																				0.527	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		22	34	0	0	0	1	0	22	34				
KIF21B	23046	broad.mit.edu	37	1	200953989	200953989	+	Missense_Mutation	SNP	G	G	C	rs368095400		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200953989G>C	ENST00000422435.2	-	27	4117	c.3801C>G	c.(3799-3801)gaC>gaG	p.D1267E	KIF21B_ENST00000461742.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1267E|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1267E	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1267					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTGCTTACTTGTCCAGCGCTG	0.622																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3799-3801)gaC>gaG		kinesin family member 21B		G	GLU/ASP	0,4406		0,0,2203	71.0	64.0	66.0		3801	4.6	1.0	1		66	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIF21B	NM_017596.2	45	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	possibly-damaging	1267/1625	200953989	2,13004	2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200953989G>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3801C>G	1.37:g.200953989G>C	ENSP00000411831:p.Asp1267Glu					KIF21B_ENST00000422435.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1267E|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1267E	p.D1267E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			27	4117	-			1267					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3801C>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368311	0.82463	0.0	2.33E-4	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71579	-0.16;-0.48;-0.58;-0.27	5.55	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.56769	1.78	0.44852	D	0.997869	P;P;P;P	0.49559	0.877;0.622;0.622;0.925	B;B;B;P	0.46339	0.315;0.197;0.197;0.513	T	0.66180	-0.5988	10	0.02654	T	1	.	10.6566	0.45678	0.1463:0.0:0.8537:0.0	.	1267;1267;1267;1267	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	E	1267	ENSP00000328494:D1267E;ENSP00000353724:D1267E;ENSP00000433808:D1267E;ENSP00000411831:D1267E	ENSP00000328494:D1267E	D	-	3	2	KIF21B	199220612	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.086000	0.50159	1.354000	0.45846	0.561000	0.74099	GAC		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		15	15	0	0	0	1	0	15	15				
KRBA2	124751	broad.mit.edu	37	17	8273378	8273378	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8273378G>A	ENST00000331336.2	-	2	558	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	KRBA2_ENST00000396267.1_Missense_Mutation_p.R103W|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	185					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R185W(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						ACATAATACCGTATTCGATCA	0.448																																						ENST00000396267.1																			1	Substitution - Missense(1)	p.R185W(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(307-309)Cgg>Tgg		KRAB-A domain containing 2							197.0	178.0	185.0					17																	8273378		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273378G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.553C>T	17.37:g.8273378G>A	ENSP00000328017:p.Arg185Trp					RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.R185W	p.R103W			Q6ZNG9	KRBA2_HUMAN			2	1138	-			185			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.307C>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475632	0.12521	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.27104	1.69;1.74	2.42	-1.86	0.07760	.	.	.	.	.	T	0.15176	0.0366	L	0.40543	1.245	0.09310	N	1	P	0.46859	0.885	B	0.35039	0.194	T	0.13899	-1.0492	9	0.87932	D	0	.	6.1576	0.20346	0.589:0.0:0.411:0.0	.	185	Q6ZNG9	KRBA2_HUMAN	W	103;185	ENSP00000379565:R103W;ENSP00000328017:R185W	ENSP00000328017:R185W	R	-	1	2	KRBA2	8214103	0.000000	0.05858	0.044000	0.18714	0.599000	0.36880	-0.388000	0.07352	-0.436000	0.07254	-0.266000	0.10368	CGG		0.448	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		56	84	0	0	0	1	0	56	84				
ZAN	7455	broad.mit.edu	37	7	100350261	100350261	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100350261A>G	ENST00000348028.3	+	0	2698				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAACTCACCATCCCCATGGA	0.488																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							274.0	311.0	300.0					7																	100350261		1877	4121	5998			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350261A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350261A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2681	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	a	6.421	0.445713	0.12164	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62364	0.03;0.03;0.03	3.14	-6.29	0.02013	.	.	.	.	.	T	0.34164	0.0888	N	0.12182	0.205	0.18873	N	0.999986	B;B	0.28713	0.22;0.04	B;B	0.25140	0.058;0.023	T	0.18116	-1.0347	9	0.42905	T	0.14	.	4.989	0.14205	0.2926:0.0:0.4529:0.2544	.	845;845	F5H0T8;Q9Y493	.;ZAN_HUMAN	V	845	ENSP00000445943:I845V;ENSP00000445091:I845V;ENSP00000444427:I845V	ENSP00000423579:I845V	I	+	1	0	ZAN	100188197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.798000	0.00363	-1.448000	0.01941	-1.389000	0.01157	ATC		0.488	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	95	0	0	0	1	0	6	95				
PKDREJ	10343	broad.mit.edu	37	22	46658026	46658026	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46658026G>T	ENST00000253255.5	-	1	1193	c.1194C>A	c.(1192-1194)gtC>gtA	p.V398V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	398	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGGGTGACAGACTTCCTTGC	0.532																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1192-1194)gtC>gtA		polycystin (PKD) family receptor for egg jelly							89.0	94.0	92.0					22																	46658026		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658026G>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1194C>A	22.37:g.46658026G>T							p.V398V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1193	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	398			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1194C>A	CCDS14073.1																																																																																				0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		28	62	1	0	4.87955e-14	1	5.31433e-14	28	62				
E4F1	1877	broad.mit.edu	37	16	2285489	2285489	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2285489G>T	ENST00000301727.4	+	14	2319	c.2271G>T	c.(2269-2271)gaG>gaT	p.E757D	E4F1_ENST00000564139.1_3'UTR|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Missense_Mutation_p.E580D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	757					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TGTCATCAGAGGACATCGAGA	0.647																																						ENST00000301727.4																			0				ovary(1)	1						c.(2269-2271)gaG>gaT		E4F transcription factor 1							30.0	26.0	27.0					16																	2285489		2189	4298	6487	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2285489G>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2271G>T	16.37:g.2285489G>T	ENSP00000301727:p.Glu757Asp					E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.E580D	p.E757D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			14	2319	+			757					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.2271G>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422234	0.43020	.	.	ENSG00000167967	ENST00000301727	T	0.35048	1.33	5.51	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.47935	-0.9078	10	0.87932	D	0	-30.6411	13.3731	0.60723	0.077:0.0:0.923:0.0	.	757	Q66K89	E4F1_HUMAN	D	757	ENSP00000301727:E757D	ENSP00000301727:E757D	E	+	3	2	E4F1	2225490	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.914000	0.56401	1.330000	0.45394	0.561000	0.74099	GAG		0.647	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		3	7	1	0	0.004672	1	0.00472505	3	7				
MAP4K4	9448	broad.mit.edu	37	2	102505311	102505311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102505311C>T	ENST00000347699.4	+	29	3550	c.3550C>T	c.(3550-3552)Cga>Tga	p.R1184*	MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.R1265*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.R983*|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.R1224*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.R1111*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.R1217*|MAP4K4_ENST00000413150.2_Nonsense_Mutation_p.R1099*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.R987*	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1184	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATAGAGATCCGATCTGTGGA	0.438																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3295-3297)Cga>Tga		mitogen-activated protein kinase kinase kinase kinase 4							103.0	102.0	102.0					2																	102505311		1885	4109	5994	SO:0001587	stop_gained	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102505311C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3550C>T	2.37:g.102505311C>T	ENSP00000314363:p.Arg1184*					MAP4K4_ENST00000347699.4_Nonsense_Mutation_p.R1184*|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.R1265*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.R1111*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.R1217*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.R987*|MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.R1224*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.R983*	p.R1099*	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			28	3350	+			1184			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Nonsense_Mutation	SNP	ENST00000347699.4	37	c.3295C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.510769|8.510769	0.98843|0.98843	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000421882|ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.47783|.	0.1464|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37753|.	-0.9692|.	3|.	.|0.02654	.|T	.|1	.|.	19.6237|19.6237	0.95670|0.95670	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1000|1217;1265;1111;987;1099;983;1184;1115;1224	.|.	.|ENSP00000303600:R987X	P|R	+|+	2|1	0|2	MAP4K4|MAP4K4	101871743|101871743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.976000|5.976000	0.70484|0.70484	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.438	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	18	0	0	0	1	0	4	18				
CC2D1A	54862	broad.mit.edu	37	19	14031458	14031458	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14031458C>T	ENST00000318003.7	+	13	1686	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P482L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	482					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCAAAGCGCCCCCCAAAGCC	0.652																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1444-1446)cCc>cTc		coiled-coil and C2 domain containing 1A							41.0	55.0	50.0					19																	14031458		1911	4119	6030	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031458C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1445C>T	19.37:g.14031458C>T	ENSP00000313601:p.Pro482Leu					CC2D1A_ENST00000589606.1_Missense_Mutation_p.P482L	p.P482L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		13	1686	+			482					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1445C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	8.070	0.770019	0.15983	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.28666	1.6	5.4	3.29	0.37713	.	0.626342	0.17527	N	0.171028	T	0.21307	0.0513	L	0.32530	0.975	0.09310	N	1	B;B	0.19200	0.034;0.025	B;B	0.18561	0.022;0.008	T	0.18366	-1.0339	10	0.27785	T	0.31	-5.984	8.2169	0.31516	0.0:0.8168:0.0:0.1832	.	482;482	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	L	482;236	ENSP00000313601:P482L	ENSP00000313601:P482L	P	+	2	0	CC2D1A	13892458	0.412000	0.25392	0.967000	0.41034	0.187000	0.23431	0.850000	0.27737	0.665000	0.31066	0.555000	0.69702	CCC		0.652	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		4	4	0	0	0	1	0	4	4				
NFAT5	10725	broad.mit.edu	37	16	69726202	69726202	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69726202A>G	ENST00000354436.2	+	12	2738	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R	NFAT5_ENST00000349945.1_Missense_Mutation_p.Q731R|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q731R|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q824R|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q825R|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q731R	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	807					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCACAGCAGCAGTTATCTTCA	0.433																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2191-2193)cAg>cGg		nuclear factor of activated T-cells 5, tonicity-responsive							110.0	108.0	108.0					16																	69726202		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726202A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2420A>G	16.37:g.69726202A>G	ENSP00000346420:p.Gln807Arg					NFAT5_ENST00000567239.1_Missense_Mutation_p.Q824R|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q731R|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q825R|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q807R|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q731R	p.Q731R	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3744	+			807					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2192A>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169465	0.57584	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50813	0.76;0.76;0.73;0.76	6.08	6.08	0.98989	.	0.182174	0.40222	N	0.001150	T	0.65365	0.2684	L	0.59436	1.845	0.50171	D	0.99985	D;D;D	0.60160	0.987;0.987;0.987	D;D;D	0.67725	0.953;0.953;0.953	T	0.66846	-0.5820	10	0.66056	D	0.02	-1.1033	16.6438	0.85155	1.0:0.0:0.0:0.0	.	824;807;825	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	R	825;824;731;807;731	ENSP00000396538:Q825R;ENSP00000338806:Q731R;ENSP00000346420:Q807R;ENSP00000377343:Q731R	ENSP00000338806:Q731R	Q	+	2	0	NFAT5	68283703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.414000	0.73318	2.333000	0.79357	0.533000	0.62120	CAG		0.433	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		13	58	0	0	0	1	0	13	58				
SETD7	80854	broad.mit.edu	37	4	140439119	140439119	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140439119G>T	ENST00000274031.3	-	7	1476	c.840C>A	c.(838-840)ccC>ccA	p.P280P	SETD7_ENST00000506866.2_Silent_p.P280P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	280	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CGTGGTTATAGGGCTCAGGCA	0.493																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(838-840)ccC>ccA		SET domain containing (lysine methyltransferase) 7							206.0	174.0	185.0					4																	140439119		2203	4300	6503	SO:0001819	synonymous_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140439119G>T	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.840C>A	4.37:g.140439119G>T						SETD7_ENST00000506866.2_Silent_p.P280P	p.P280P	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			7	1476	-	all_hematologic(180;0.156)		280			SET.		B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Silent	SNP	ENST00000274031.3	37	c.840C>A	CCDS3748.1																																																																																				0.493	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		12	60	1	0	0.00136819	1	0.00138908	12	60				
ANAPC1	64682	broad.mit.edu	37	2	112630929	112630929	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112630929G>A	ENST00000341068.3	-	5	1256	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	162					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCTATGCTATGCATGTTAATA	0.333																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(484-486)Cat>Tat		anaphase promoting complex subunit 1							65.0	60.0	62.0					2																	112630929		2203	4294	6497	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112630929G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.484C>T	2.37:g.112630929G>A	ENSP00000339109:p.His162Tyr					ANAPC1_ENST00000489177.1_5'UTR	p.H162Y	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			5	1256	-			162					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.484C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578623	0.28180	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.49	4.49	0.54785	.	0.000000	0.47455	U	0.000222	T	0.56411	0.1983	N	0.13235	0.315	0.58432	D	0.999992	D	0.62365	0.991	D	0.76575	0.988	T	0.50294	-0.8845	9	0.02654	T	1	-21.7438	17.5654	0.87918	0.0:0.0:1.0:0.0	.	162	Q9H1A4	APC1_HUMAN	Y	162	.	ENSP00000339109:H162Y	H	-	1	0	ANAPC1	112347400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.938000	0.87678	2.183000	0.69458	0.651000	0.88453	CAT		0.333	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		22	47	0	0	0	1	0	22	47				
MBD5	55777	broad.mit.edu	37	2	149247602	149247602	+	Silent	SNP	C	C	A	rs144957555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:149247602C>A	ENST00000407073.1	+	12	4699	c.3702C>A	c.(3700-3702)gtC>gtA	p.V1234V	MBD5_ENST00000404807.1_Silent_p.V1467V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1234					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAACAATGTCTCTACACTGC	0.453																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(3700-3702)gtC>gtA		methyl-CpG binding domain protein 5							94.0	86.0	89.0					2																	149247602		2203	4300	6503	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247602C>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3702C>A	2.37:g.149247602C>A						MBD5_ENST00000404807.1_Silent_p.V1467V	p.V1234V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4699	+			1234					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.3702C>A	CCDS33302.1																																																																																				0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			21	19	1	0	9.95505e-16	1	1.0907e-15	21	19				
SPINK14	408187	broad.mit.edu	37	5	147553880	147553880	+	Silent	SNP	C	C	T	rs377765720		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:147553880C>T	ENST00000356972.1	+	3	195	c.195C>T	c.(193-195)tgC>tgT	p.C65C	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	65	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						AACCCATCTGCGGCACCAATT	0.423																																						ENST00000356972.1																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(193-195)tgC>tgT		serine peptidase inhibitor, Kazal type 14 (putative)							114.0	114.0	114.0					5																	147553880		1499	3118	4617	SO:0001819	synonymous_variant	408187					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147553880C>T		CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"""Serine peptidase inhibitors, Kazal type"""	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.195C>T	5.37:g.147553880C>T						SPINK14_ENST00000562793.1_Intron	p.C65C	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN			3	195	+			65			Kazal-like.			Silent	SNP	ENST00000356972.1	37	c.195C>T	CCDS4288.1																																																																																				0.423	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		6	58	0	0	0	1	0	6	58				
BZRAP1	9256	broad.mit.edu	37	17	56393793	56393793	+	Missense_Mutation	SNP	G	G	A	rs370287341		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56393793G>A	ENST00000343736.4	-	15	2144	c.1981C>T	c.(1981-1983)Cgt>Tgt	p.R661C	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R601C|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R661C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	661	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCTATAACGTGCTAGGAAG	0.647																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1981-1983)Cgt>Tgt		benzodiazapine receptor (peripheral) associated protein 1							59.0	52.0	55.0					17																	56393793		2203	4299	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56393793G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1981C>T	17.37:g.56393793G>A	ENSP00000345824:p.Arg661Cys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.R601C|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R661C	p.R661C	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			15	2851	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		661			SH3 1.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1981C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439389	0.63067	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.30182	1.54;1.54;1.54	5.81	5.81	0.92471	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.997	T	0.55451	-0.8139	10	0.87932	D	0	.	19.051	0.93046	0.0:0.0:1.0:0.0	.	661;601;661	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	C	661;661;601	ENSP00000347929:R661C;ENSP00000345824:R661C;ENSP00000268893:R601C	ENSP00000268893:R601C	R	-	1	0	BZRAP1	53748792	1.000000	0.71417	0.955000	0.39395	0.099000	0.18886	5.790000	0.69038	2.745000	0.94114	0.655000	0.94253	CGT		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		23	36	0	0	0	1	0	23	36				
CD86	942	broad.mit.edu	37	3	121822507	121822507	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121822507C>T	ENST00000330540.2	+	3	329	c.213C>T	c.(211-213)ggC>ggT	p.G71G	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Silent_p.G65G|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	71	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATACTTAGGCAAAGAGAAAT	0.428																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(211-213)ggC>ggT		CD86 molecule	Abatacept(DB01281)						142.0	142.0	142.0					3																	121822507		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822507C>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.213C>T	3.37:g.121822507C>T						CD86_ENST00000393627.2_Silent_p.G65G|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron	p.G71G	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	329	+			71			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.213C>T	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284893	0.05605	.	.	ENSG00000114013	ENST00000478741	.	.	.	5.54	0.0312	0.14170	.	.	.	.	.	.	.	.	.	.	.	0.40055	D	0.975829	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6932	2.981	0.05953	0.3068:0.3431:0.2666:0.0835	.	.	.	.	X	67	.	.	Q	+	1	0	CD86	123305197	0.142000	0.22610	0.178000	0.23040	0.390000	0.30446	0.054000	0.14205	0.118000	0.18165	-0.152000	0.13540	CAA		0.428	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		44	80	0	0	0	1	0	44	80				
NAPG	8774	broad.mit.edu	37	18	10546334	10546334	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:10546334C>T	ENST00000322897.6	+	9	587	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NAPG_ENST00000542979.1_Missense_Mutation_p.A91V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	173					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						TTTGATGAGGCGGCACTCTCT	0.318																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(517-519)gCg>gTg		N-ethylmaleimide-sensitive factor attachment protein, gamma							80.0	68.0	72.0					18																	10546334		1809	4069	5878	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10546334C>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.518C>T	18.37:g.10546334C>T	ENSP00000324628:p.Ala173Val					NAPG_ENST00000542979.1_Missense_Mutation_p.A91V	p.A173V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			9	587	+			173					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.518C>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487596	0.96323	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	D;D	0.93953	-3.32;-3.32	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.044133	0.85682	D	0.000000	D	0.96288	0.8789	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.63113	0.911	D	0.96510	0.9378	10	0.87932	D	0	-14.6148	19.4438	0.94838	0.0:1.0:0.0:0.0	.	173	Q99747	SNAG_HUMAN	V	173;91	ENSP00000324628:A173V;ENSP00000442849:A91V	ENSP00000324628:A173V	A	+	2	0	NAPG	10536334	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	6.387000	0.73191	2.655000	0.90218	0.655000	0.94253	GCG		0.318	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		3	7	0	0	0	1	0	3	7				
PTPRB	5787	broad.mit.edu	37	12	71003069	71003069	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71003069C>A	ENST00000261266.5	-	2	134	c.105G>T	c.(103-105)aaG>aaT	p.K35N	PTPRB_ENST00000538708.1_Missense_Mutation_p.K35N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K35N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.K35N|PTPRB_ENST00000550358.1_Missense_Mutation_p.K253N|PTPRB_ENST00000551525.1_Missense_Mutation_p.K252N|PTPRB_ENST00000334414.6_Missense_Mutation_p.K253N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	35	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGCTGGAGGCCTTGGACTCCG	0.537																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(757-759)aaG>aaT		protein tyrosine phosphatase, receptor type, B							50.0	55.0	53.0					12																	71003069		1916	4113	6029	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71003069C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.105G>T	12.37:g.71003069C>A	ENSP00000261266:p.Lys35Asn					PTPRB_ENST00000551525.1_Missense_Mutation_p.K252N|PTPRB_ENST00000550358.1_Missense_Mutation_p.K253N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K35N|PTPRB_ENST00000451516.2_Missense_Mutation_p.K35N|PTPRB_ENST00000538708.1_Missense_Mutation_p.K35N|PTPRB_ENST00000261266.5_Missense_Mutation_p.K35N|PTPRB_ENST00000538174.2_5'UTR	p.K253N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		4	803	-	Renal(347;0.236)		35			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.759G>T	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.218|3.218	-0.160115|-0.160115	0.06502|0.06502	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000547715|ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.|T;T;T;T;T;T;T;T	.|0.04015	.|3.73;3.73;3.73;3.73;3.73;3.73;3.73;3.73	4.89|4.89	-1.32|-1.32	0.09201|0.09201	.|Fibronectin, type III (2);	.|1.326240	.|0.04748	.|N	.|0.424095	T|T	0.04092|0.04092	0.0114|0.0114	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B;B;B;B;B;B	.|0.26902	.|0.001;0.004;0.002;0.163;0.001;0.001;0.0;0.02	.|B;B;B;B;B;B;B;B	.|0.23419	.|0.006;0.019;0.01;0.046;0.006;0.004;0.006;0.027	T|T	0.43523|0.43523	-0.9386|-0.9386	5|10	.|0.15499	.|T	.|0.54	.|.	1.4522|1.4522	0.02377|0.02377	0.1419:0.3154:0.1386:0.4041|0.1419:0.3154:0.1386:0.4041	.|.	.|35;35;132;253;252;253;35;253	.|P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.|.;.;.;.;.;.;PTPRB_HUMAN;.	C|N	27|253;35;253;253;35;35;35;252;132	.|ENSP00000334928:K253N;ENSP00000393028:K35N;ENSP00000448058:K253N;ENSP00000438927:K35N;ENSP00000447302:K35N;ENSP00000261266:K35N;ENSP00000448349:K252N;ENSP00000446982:K132N	.|ENSP00000261266:K35N	G|K	-|-	1|3	0|2	PTPRB|PTPRB	69289336|69289336	0.000000|0.000000	0.05858|0.05858	0.035000|0.035000	0.18076|0.18076	0.001000|0.001000	0.01503|0.01503	-0.977000|-0.977000	0.03782|0.03782	-0.490000|-0.490000	0.06707|0.06707	-1.512000|-1.512000	0.00943|0.00943	GGC|AAG		0.537	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			15	16	1	0	1.49906e-05	1	1.54943e-05	15	16				
DHX38	9785	broad.mit.edu	37	16	72142736	72142736	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72142736C>A	ENST00000268482.3	+	24	3802	c.3293C>A	c.(3292-3294)cCc>cAc	p.P1098H	DHX38_ENST00000536867.1_Missense_Mutation_p.P410H	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1098					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACAGGGATGCCCTGCCACTTG	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(3292-3294)cCc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83.0	64.0	70.0					16																	72142736		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142736C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3293C>A	16.37:g.72142736C>A	ENSP00000268482:p.Pro1098His					DHX38_ENST00000536867.1_Missense_Mutation_p.P410H	p.P1098H	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			24	3802	+		Ovarian(137;0.125)	1098					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.3293C>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812521	0.90707	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10192	3.98;2.9	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.63910	-0.6530	10	0.72032	D	0.01	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	410;1098	B4DVG8;Q92620	.;PRP16_HUMAN	H	1098;410	ENSP00000268482:P1098H;ENSP00000437898:P410H	ENSP00000268482:P1098H	P	+	2	0	DHX38	70700237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CCC		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		16	20	1	0	1.67942e-08	1	1.77343e-08	16	20				
ARMCX2	9823	broad.mit.edu	37	X	100911832	100911832	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100911832G>A	ENST00000328766.5	-	5	1196	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A248V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A248V|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	248	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGGAACCACCGCTGTTCTAGG	0.607																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(742-744)gCg>gTg		armadillo repeat containing, X-linked 2							52.0	50.0	51.0					X																	100911832		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911832G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.743C>T	X.37:g.100911832G>A	ENSP00000331662:p.Ala248Val					ARMCX2_ENST00000330154.2_Missense_Mutation_p.A248V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A248V	p.A248V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1196	-			248			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.743C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	1.320	-0.599728	0.03744	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.32753	1.44;1.44;1.44	3.77	1.7	0.24286	.	0.422220	0.17499	N	0.172074	T	0.16471	0.0396	N	0.24115	0.695	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.21655	-1.0239	10	0.23302	T	0.38	-0.1238	5.7322	0.18047	0.3912:0.0:0.6088:0.0	.	248	Q7L311	ARMX2_HUMAN	V	248	ENSP00000331662:A248V;ENSP00000328631:A248V;ENSP00000349281:A248V	ENSP00000331662:A248V	A	-	2	0	ARMCX2	100798488	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.032000	0.13732	0.294000	0.22547	0.544000	0.68410	GCG		0.607	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		30	8	0	0	0	1	0	30	8				
SLC12A9	56996	broad.mit.edu	37	7	100463550	100463550	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100463550G>A	ENST00000354161.3	+	14	2193	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	690					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGGCCGACGCCCTCAAGAT	0.701																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2068-2070)Gcc>Acc		solute carrier family 12, member 9							31.0	38.0	36.0					7																	100463550		2202	4295	6497	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463550G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2068G>A	7.37:g.100463550G>A	ENSP00000275730:p.Ala690Thr						p.A690T	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2193	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		690					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2068G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341774	0.61073	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91945	-2.94	5.44	5.44	0.79542	.	0.175887	0.48286	D	0.000181	D	0.88926	0.6570	L	0.58428	1.81	0.80722	D	1	P	0.39352	0.669	B	0.34346	0.18	D	0.87137	0.2200	10	0.15499	T	0.54	.	16.7552	0.85497	0.0:0.0:1.0:0.0	.	690	Q9BXP2	S12A9_HUMAN	T	690;316	ENSP00000275730:A690T	ENSP00000275730:A690T	A	+	1	0	SLC12A9	100301486	1.000000	0.71417	0.966000	0.40874	0.955000	0.61496	9.853000	0.99521	2.564000	0.86499	0.555000	0.69702	GCC		0.701	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		28	26	0	0	0	1	0	28	26				
ADAM15	8751	broad.mit.edu	37	1	155026631	155026631	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155026631C>A	ENST00000356955.2	+	5	449	c.348C>A	c.(346-348)aaC>aaA	p.N116K	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.N100K|ADAM15_ENST00000368412.3_Missense_Mutation_p.N116K|ADAM15_ENST00000355956.2_Missense_Mutation_p.N116K|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.N116K|ADAM15_ENST00000271836.6_Missense_Mutation_p.N116K|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.N126K|ADAM15_ENST00000360674.4_Missense_Mutation_p.N116K|ADAM15_ENST00000359280.4_Missense_Mutation_p.N116K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	116					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCAGGAGAACTGCTGCTACC	0.532																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(346-348)aaC>aaA		ADAM metallopeptidase domain 15							102.0	96.0	98.0					1																	155026631		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026631C>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.348C>A	1.37:g.155026631C>A	ENSP00000349436:p.Asn116Lys					ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.N116K|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.N126K|ADAM15_ENST00000368412.3_Missense_Mutation_p.N116K|ADAM15_ENST00000360674.4_Missense_Mutation_p.N116K|ADAM15_ENST00000355956.2_Missense_Mutation_p.N116K|ADAM15_ENST00000359280.4_Missense_Mutation_p.N116K|ADAM15_ENST00000447332.3_Missense_Mutation_p.N100K|ADAM15_ENST00000449910.2_Missense_Mutation_p.N116K	p.N116K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		5	449	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		116					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.348C>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563910	0.65651	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36;3.36;3.36	4.94	1.84	0.25277	Peptidase M12B, propeptide (1);	0.421556	0.19950	N	0.102451	T	0.08980	0.0222	M	0.77486	2.375	0.80722	D	1	P;P;P;P;P;P;P;P;P;P	0.50156	0.932;0.932;0.866;0.855;0.734;0.917;0.917;0.917;0.734;0.88	P;P;P;P;P;P;P;P;P;P	0.57009	0.811;0.811;0.755;0.713;0.562;0.713;0.713;0.713;0.457;0.811	T	0.03121	-1.1070	10	0.72032	D	0.01	.	5.8859	0.18882	0.0:0.6625:0.0:0.3375	.	126;133;100;116;116;116;116;116;116;116	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	K	116;116;116;116;116;116;116;126	ENSP00000349436:N116K;ENSP00000403843:N116K;ENSP00000352226:N116K;ENSP00000353892:N116K;ENSP00000357397:N116K;ENSP00000348227:N116K;ENSP00000271836:N116K;ENSP00000432927:N126K	ENSP00000271836:N116K	N	+	3	2	ADAM15	153293255	1.000000	0.71417	0.979000	0.43373	0.692000	0.40212	0.782000	0.26788	0.687000	0.31509	-0.291000	0.09656	AAC		0.532	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		21	43	1	0	3.5997e-14	1	3.92294e-14	21	43				
OR51G2	81282	broad.mit.edu	37	11	4935968	4935968	+	Missense_Mutation	SNP	G	G	A	rs200630145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4935968G>A	ENST00000322013.3	-	1	954	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGCATGCGTCACTCGATC	0.438																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(925-927)aCg>aTg		olfactory receptor, family 51, subfamily G, member 2							95.0	77.0	83.0					11																	4935968		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4935968G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.926C>T	11.37:g.4935968G>A	ENSP00000322593:p.Thr309Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.T309M	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	954	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	309					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.926C>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352499	0.24512	.	.	ENSG00000176893	ENST00000322013	T	0.36878	1.23	4.9	2.04	0.26737	.	0.839267	0.10223	N	0.700684	T	0.18841	0.0452	N	0.16266	0.395	0.09310	N	1	P	0.45634	0.863	B	0.35240	0.198	T	0.09335	-1.0679	10	0.62326	D	0.03	.	6.3021	0.21119	0.2999:0.0:0.7001:0.0	.	309	Q8NGK0	O51G2_HUMAN	M	309	ENSP00000322593:T309M	ENSP00000322593:T309M	T	-	2	0	OR51G2	4892544	0.624000	0.27102	0.009000	0.14445	0.864000	0.49448	0.916000	0.28651	0.795000	0.33922	0.650000	0.86243	ACG		0.438	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		5	12	0	0	0	1	0	5	12				
GBP5	115362	broad.mit.edu	37	1	89730602	89730602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89730602C>T	ENST00000370459.3	-	7	1043	c.916G>A	c.(916-918)Gat>Aat	p.D306N	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.D306N			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	306	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAAGGCAGATCCCCACTGCTG	0.463																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(916-918)Gat>Aat		guanylate binding protein 5							95.0	84.0	87.0					1																	89730602		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730602C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.916G>A	1.37:g.89730602C>T	ENSP00000359488:p.Asp306Asn					GBP5_ENST00000370459.3_Missense_Mutation_p.D306N|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR	p.D306N	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1452	-			306					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.916G>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	3.781	-0.045596	0.07452	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02050	4.48;4.48;4.48	4.96	-5.55	0.02536	Guanylate-binding protein, C-terminal (3);	1.014320	0.07852	N	0.964883	T	0.00637	0.0021	L	0.49571	1.57	0.09310	N	1	B	0.14438	0.01	B	0.20767	0.031	T	0.47623	-0.9103	10	0.34782	T	0.22	-0.7395	0.6697	0.00856	0.211:0.1861:0.3069:0.2961	.	306	Q96PP8	GBP5_HUMAN	N	306	ENSP00000340396:D306N;ENSP00000359488:D306N;ENSP00000403010:D306N	ENSP00000340396:D306N	D	-	1	0	GBP5	89503190	0.000000	0.05858	0.155000	0.22561	0.034000	0.12701	-1.670000	0.01956	-1.197000	0.02673	-0.265000	0.10407	GAT		0.463	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		18	42	0	0	0	1	0	18	42				
LRRC16B	90668	broad.mit.edu	37	14	24524777	24524777	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24524777C>T	ENST00000342740.5	+	9	785	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	211						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGTAGCAGCCCTGGCCTACAA	0.572																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(631-633)Ctg>Ttg		leucine rich repeat containing 16B							101.0	97.0	98.0					14																	24524777		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24524777C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.631C>T	14.37:g.24524777C>T						LRRC16B_ENST00000334420.7_5'UTR	p.L211L	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	9	785	+			211					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.631C>T	CCDS32054.1																																																																																				0.572	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		32	32	0	0	0	1	0	32	32				
SPOP	8405	broad.mit.edu	37	17	47685270	47685270	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47685270G>A	ENST00000393328.2	-	8	1045	c.680C>T	c.(679-681)gCc>gTc	p.A227V	SPOP_ENST00000347630.2_Missense_Mutation_p.A227V|SPOP_ENST00000503676.1_Missense_Mutation_p.A227V|SPOP_ENST00000393331.3_Missense_Mutation_p.A227V|SPOP_ENST00000504102.1_Missense_Mutation_p.A227V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	227	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCAAACATGGCACTAAAAAC	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(679-681)gCc>gTc		speckle-type POZ protein							245.0	235.0	238.0					17																	47685270		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47685270G>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.680C>T	17.37:g.47685270G>A	ENSP00000377001:p.Ala227Val	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.A227V|SPOP_ENST00000504102.1_Missense_Mutation_p.A227V|SPOP_ENST00000503676.1_Missense_Mutation_p.A227V|SPOP_ENST00000393328.2_Missense_Mutation_p.A227V	p.A227V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			9	1150	-			227			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.680C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891940	0.97074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	4.99	4.99	0.66335	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.90198	3.095	0.80722	D	1	P	0.46064	0.872	B	0.34180	0.177	T	0.80859	-0.1194	10	0.62326	D	0.03	-13.2312	18.42	0.90587	0.0:0.0:1.0:0.0	.	227	O43791	SPOP_HUMAN	V	227;227;227;227;111;227;180;227;227	ENSP00000377001:A227V;ENSP00000377004:A227V;ENSP00000240327:A227V;ENSP00000425905:A227V;ENSP00000420908:A227V;ENSP00000426986:A227V;ENSP00000420960:A227V	ENSP00000240327:A227V	A	-	2	0	SPOP	45040269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.573000	0.98181	2.756000	0.94617	0.561000	0.74099	GCC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		4	131	0	0	0	1	0	4	131				
DEAF1	10522	broad.mit.edu	37	11	686974	686974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:686974G>A	ENST00000382409.3	-	5	1172	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	230	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTCTCCCCCTGCTTGATGCAC	0.612																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(688-690)Cag>Tag		DEAF1 transcription factor							170.0	121.0	138.0					11																	686974		2203	4300	6503	SO:0001587	stop_gained	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:686974G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.688C>T	11.37:g.686974G>A	ENSP00000371846:p.Gln230*					DEAF1_ENST00000338675.6_Intron	p.Q230*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	5	1172	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	230			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	c.688C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440790	0.97568	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	.	.	.	5.07	5.07	0.68467	.	0.296515	0.33854	N	0.004487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.7997	17.5987	0.88020	0.0:0.0:1.0:0.0	.	.	.	.	X	230;216;153	.	ENSP00000353043:Q216X	Q	-	1	0	DEAF1	676974	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.507000	0.97996	2.507000	0.84556	0.655000	0.94253	CAG		0.612	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	14	0	0	0	1	0	12	14				
LASP1	3927	broad.mit.edu	37	17	37074902	37074902	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37074902C>T	ENST00000318008.6	+	7	988	c.657C>T	c.(655-657)gaC>gaT	p.D219D	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Silent_p.D163D|LASP1_ENST00000435347.3_Silent_p.D219D	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	219	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CCGACGAGGACGAGGTCTCCT	0.662			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(655-657)gaC>gaT		LIM and SH3 protein 1							115.0	101.0	106.0					17																	37074902		2203	4300	6503	SO:0001819	synonymous_variant	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074902C>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.657C>T	17.37:g.37074902C>T						LASP1_ENST00000435347.3_Silent_p.D219D|LASP1_ENST00000433206.2_Silent_p.D163D	p.D219D	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	988	+			219			SH3.		B4DGQ0|Q96ED2|Q96IG0	Silent	SNP	ENST00000318008.6	37	c.657C>T	CCDS11331.1																																																																																				0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		16	70	0	0	0	1	0	16	70				
RP1-274L7.1	0	broad.mit.edu	37	X	129629515	129629515	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129629515C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AGTTATATTGCAGTTCTCACA	0.438																																						ENST00000458525.1																			0																				111.0	107.0	109.0					X																	129629515		2203	4297	6500			0							g.chrX:129629515C>T																													X.37:g.129629515C>T						FAM45B_ENST00000592932.1_RNA								0	1015	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.438	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			33	35	0	0	0	1	0	33	35				
DYSF	8291	broad.mit.edu	37	2	71788950	71788950	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71788950G>A	ENST00000258104.3	+	23	2508	c.2231G>A	c.(2230-2232)cGc>cAc	p.R744H	DYSF_ENST00000409744.1_Missense_Mutation_p.R731H|DYSF_ENST00000409366.1_Missense_Mutation_p.R745H|DYSF_ENST00000409651.1_Missense_Mutation_p.R776H|DYSF_ENST00000413539.2_Missense_Mutation_p.R775H|DYSF_ENST00000410041.1_Missense_Mutation_p.R762H|DYSF_ENST00000409582.3_Missense_Mutation_p.R761H|DYSF_ENST00000394120.2_Missense_Mutation_p.R745H|DYSF_ENST00000409762.1_Missense_Mutation_p.R761H|DYSF_ENST00000429174.2_Missense_Mutation_p.R744H|DYSF_ENST00000410020.3_Missense_Mutation_p.R762H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	744					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACCAGCTGCGCACCCATCAC	0.632																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2230-2232)cGc>cAc		dysferlin							143.0	109.0	121.0					2																	71788950		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71788950G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2231G>A	2.37:g.71788950G>A	ENSP00000258104:p.Arg744His					DYSF_ENST00000429174.2_Missense_Mutation_p.R744H|DYSF_ENST00000410020.3_Missense_Mutation_p.R762H|DYSF_ENST00000409762.1_Missense_Mutation_p.R761H|DYSF_ENST00000409744.1_Missense_Mutation_p.R731H|DYSF_ENST00000409651.1_Missense_Mutation_p.R776H|DYSF_ENST00000409366.1_Missense_Mutation_p.R745H|DYSF_ENST00000394120.2_Missense_Mutation_p.R745H|DYSF_ENST00000413539.2_Missense_Mutation_p.R775H|DYSF_ENST00000409582.3_Missense_Mutation_p.R761H|DYSF_ENST00000410041.1_Missense_Mutation_p.R762H	p.R744H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			23	2508	+			744					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2231G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152980	0.94645	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	5.34	5.34	0.76211	Ferlin A-domain (1);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.996;0.997;0.996;0.937;1.0;0.997;0.996;1.0;0.999;1.0	D	0.99047	1.0826	10	0.66056	D	0.02	-16.562	16.5302	0.84355	0.0:0.0:1.0:0.0	.	776;762;745;731;762;731;761;730;775;761;744;730;745;744	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	775;761;761;744;744;776;745;731;745;762;762	ENSP00000407046:R775H;ENSP00000387137:R761H;ENSP00000386547:R761H;ENSP00000398305:R744H;ENSP00000258104:R744H;ENSP00000386683:R776H;ENSP00000377678:R745H;ENSP00000386285:R731H;ENSP00000386512:R745H;ENSP00000386881:R762H;ENSP00000386617:R762H	ENSP00000258104:R744H	R	+	2	0	DYSF	71642458	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	9.498000	0.97972	2.504000	0.84457	0.561000	0.74099	CGC		0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		14	20	0	0	0	1	0	14	20				
TNFRSF21	27242	broad.mit.edu	37	6	47251793	47251793	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47251793C>A	ENST00000296861.2	-	3	1517	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	375					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTTCAGAGTCCTCGAGCTTTT	0.512																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1123-1125)aGg>aTg		tumor necrosis factor receptor superfamily, member 21							111.0	114.0	113.0					6																	47251793		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251793C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1124G>T	6.37:g.47251793C>A	ENSP00000296861:p.Arg375Met						p.R375M	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1517	-			375					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1124G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383523	0.82792	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70516	-0.49	6.17	6.17	0.99709	.	0.043932	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.54753	D	0.999987	D	0.89917	1.0	D	0.70935	0.971	T	0.78807	-0.2059	10	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	375	O75509	TNR21_HUMAN	M	375;64	ENSP00000296861:R375M	ENSP00000296861:R375M	R	-	2	0	TNFRSF21	47359752	0.998000	0.40836	0.980000	0.43619	0.983000	0.72400	4.470000	0.60175	2.941000	0.99782	0.655000	0.94253	AGG		0.512	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		4	80	1	0	0.014758	1	0.0148771	4	80				
MKX	283078	broad.mit.edu	37	10	27964290	27964290	+	Silent	SNP	G	G	A	rs549642340		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27964290G>A	ENST00000375790.5	-	7	1359	c.927C>T	c.(925-927)aaC>aaT	p.N309N	MKX_ENST00000419761.1_Silent_p.N309N			Q8IYA7	MKX_HUMAN	mohawk homeobox	309					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCATAGCTGCGTTGATCTCCT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18253	0.0		0.0	False		,,,				2504	0.001					ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(925-927)aaC>aaT		mohawk homeobox							270.0	237.0	248.0					10																	27964290		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964290G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.927C>T	10.37:g.27964290G>A						MKX_ENST00000419761.1_Silent_p.N309N	p.N309N			Q8IYA7	MKX_HUMAN			7	1359	-			309					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.927C>T	CCDS7156.1																																																																																				0.453	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		46	75	0	0	0	1	0	46	75				
OPLAH	26873	broad.mit.edu	37	8	145106948	145106948	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145106948G>A	ENST00000426825.1	-	25	3574	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1165					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCCGCCGCAGCTCGAAG	0.741																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3493-3495)Cgg>Tgg		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						12.0	14.0	13.0					8																	145106948		1551	3517	5068	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106948G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3493C>T	8.37:g.145106948G>A	ENSP00000475943:p.Arg1165Trp					OPLAH_ENST00000534424.1_5'UTR	p.R1165W	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		25	3574	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1165					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3493C>T		.	.	.	.	.	.	.	.	.	.	G	5.153	0.213863	0.09810	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.31	0.444	0.16592	.	0.123147	0.53938	D	0.000055	T	0.65575	0.2704	.	.	.	0.44652	D	0.997636	D	0.89917	1.0	D	0.77557	0.99	T	0.70714	-0.4796	7	0.87932	D	0	.	7.1482	0.25595	0.1362:0.0:0.5919:0.2719	.	1165	O14841	OPLA_HUMAN	W	1165	.	ENSP00000412071:R1165W	R	-	1	2	OPLAH	145178936	0.001000	0.12720	0.760000	0.31359	0.249000	0.25844	-0.236000	0.09003	0.073000	0.16731	-0.281000	0.10026	CGG		0.741	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		10	20	0	0	0	1	0	10	20				
TTN	7273	broad.mit.edu	37	2	179401677	179401677	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179401677T>C	ENST00000591111.1	-	306	95460	c.95236A>G	c.(95236-95238)Aag>Gag	p.K31746E	TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30819E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24447E|TTN_ENST00000460472.2_Missense_Mutation_p.K24322E|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K33387E|TTN_ENST00000342175.6_Missense_Mutation_p.K24514E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31746	Fibronectin type-III 130. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGACTCTTAATGATCACA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100159-100161)Aag>Gag		titin							45.0	42.0	43.0					2																	179401677		1862	4105	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401677T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95236A>G	2.37:g.179401677T>C	ENSP00000465570:p.Lys31746Glu					TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24514E|TTN_ENST00000591111.1_Missense_Mutation_p.K31746E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24322E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30819E|TTN_ENST00000359218.5_Missense_Mutation_p.K24447E|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA	p.K33387E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		356	100383	-			31746		T -> M.	Ig-like 146.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100159A>G		.	.	.	.	.	.	.	.	.	.	T	15.36	2.809661	0.50421	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.55	5.55	0.83447	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47637	0.1456	M	0.67517	2.055	0.58432	D	0.999995	P;P;P;P	0.48694	0.914;0.914;0.914;0.914	B;B;B;B	0.38842	0.283;0.283;0.283;0.283	T	0.57705	-0.7765	9	0.87932	D	0	.	15.6868	0.77418	0.0:0.0:0.0:1.0	.	24322;24447;24514;31746	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	30819;24322;24514;24447;24319	ENSP00000343764:K30819E;ENSP00000434586:K24322E;ENSP00000340554:K24514E;ENSP00000352154:K24447E	ENSP00000340554:K24514E	K	-	1	0	TTN	179109923	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.111000	0.64477	0.460000	0.39030	AAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	8	0	0	0	1	0	8	8				
AICDA	57379	broad.mit.edu	37	12	8757907	8757907	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8757907C>T	ENST00000229335.6	-	3	434	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	AICDA_ENST00000537228.1_Missense_Mutation_p.A111T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	111	Required for interaction with RNF126. {ECO:0000269|PubMed:23277564}.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A111T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					TAGAGGCGCGCGGTGAAGATC	0.637																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			1	Substitution - Missense(1)	p.A111T(1)	pancreas(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(331-333)Gcg>Acg		activation-induced cytidine deaminase							31.0	34.0	33.0					12																	8757907		1989	4160	6149	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757907C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.331G>A	12.37:g.8757907C>T	ENSP00000229335:p.Ala111Thr					AICDA_ENST00000537228.1_Missense_Mutation_p.A111T	p.A111T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	434	-	Lung SC(5;0.184)		111					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.331G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914194	0.92178	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66280	-0.2;-0.2	5.45	5.45	0.79879	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.049216	0.85682	D	0.000000	T	0.69655	0.3135	M	0.69185	2.1	0.54753	D	0.999987	D;D;D	0.56746	0.977;0.977;0.977	P;P;P	0.49252	0.604;0.604;0.604	T	0.74633	-0.3600	10	0.87932	D	0	-18.2239	17.8462	0.88731	0.0:1.0:0.0:0.0	.	111;111;111	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	T	111	ENSP00000229335:A111T;ENSP00000445691:A111T	ENSP00000229335:A111T	A	-	1	0	AICDA	8649174	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.548000	0.67255	2.554000	0.86153	0.561000	0.74099	GCG		0.637	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		12	17	0	0	0	1	0	12	17				
OR9G1	390174	broad.mit.edu	37	11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T	rs543443299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21535	0.0		0.0	False		,,,				2504	0.0					ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(484-486)aCg>aTg		olfactory receptor, family 9, subfamily G, member 1							170.0	162.0	165.0					11																	56468348		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468348C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.485C>T	11.37:g.56468348C>T	ENSP00000309012:p.Thr162Met						p.T162M	NM_001005213.1	NP_001005213.1					1	485	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.485C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.571029	0.13623	.	.	ENSG00000174914	ENST00000312153	T	0.00265	8.39	4.52	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.242889	0.29565	N	0.011796	T	0.00300	0.0009	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.54846	-0.8232	10	0.23891	T	0.37	-1.4606	8.2429	0.31671	0.0:0.5193:0.0:0.4807	.	162	Q8NH87	OR9G1_HUMAN	M	162	ENSP00000309012:T162M	ENSP00000309012:T162M	T	+	2	0	OR9G1	56224924	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	-1.086000	0.03386	0.115000	0.18071	-0.242000	0.12053	ACG		0.448	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		17	67	0	0	0	1	0	17	67				
GALNT2	2590	broad.mit.edu	37	1	230372099	230372099	+	Splice_Site	SNP	C	C	T	rs143842900	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230372099C>T	ENST00000366672.4	+	5	546	c.474C>T	c.(472-474)agC>agT	p.S158S	GALNT2_ENST00000541865.1_Splice_Site_p.S68S|GALNT2_ENST00000543760.1_Splice_Site_p.S120S	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	158	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTTCTTAGCGTGCTTAAGA	0.398																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.e5-1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)		C		4,4402	6.2+/-15.9	0,4,2199	56.0	57.0	57.0		474	-4.0	0.9	1	dbSNP_134	57	0,8600		0,0,4300	yes	coding-synonymous-near-splice	GALNT2	NM_004481.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		158/572	230372099	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230372099C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.474-1C>T	1.37:g.230372099C>T						GALNT2_ENST00000543760.1_Splice_Site_p.S120_splice|GALNT2_ENST00000541865.1_Splice_Site_p.S68_splice	p.S158_splice	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			5	546	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	158			Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Splice_Site	SNP	ENST00000366672.4	37	c.473_splice	CCDS1582.1																																																																																				0.398	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	Silent	13	53	0	0	0	1	0	13	53				
INCENP	3619	broad.mit.edu	37	11	61908487	61908487	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61908487C>T	ENST00000394818.3	+	10	1766	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	INCENP_ENST00000278849.4_Missense_Mutation_p.R522C	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	522					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTTATTAAGCGCAACACTCC	0.622																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1564-1566)Cgc>Tgc		inner centromere protein antigens 135/155kDa							54.0	53.0	53.0					11																	61908487		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908487C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1564C>T	11.37:g.61908487C>T	ENSP00000378295:p.Arg522Cys					INCENP_ENST00000278849.4_Missense_Mutation_p.R522C	p.R522C	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			10	1766	+			522					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1564C>T	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753081	0.69648	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.44083	0.93;0.93	5.33	5.33	0.75918	.	0.000000	0.51477	D	0.000082	T	0.64735	0.2625	M	0.70275	2.135	0.58432	D	0.999999	P;D;D	0.89917	0.952;1.0;1.0	B;D;D	0.87578	0.4;0.998;0.996	T	0.67699	-0.5603	10	0.72032	D	0.01	.	16.5308	0.84357	0.0:1.0:0.0:0.0	.	522;522;522	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	C	522	ENSP00000378295:R522C;ENSP00000278849:R522C	ENSP00000278849:R522C	R	+	1	0	INCENP	61665063	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.132000	0.50523	2.504000	0.84457	0.563000	0.77884	CGC		0.622	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		6	14	0	0	0	1	0	6	14				
LRRC37A2	474170	broad.mit.edu	37	17	44594546	44594546	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44594546C>T	ENST00000576629.1	+	3	3104				LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000329240.4_Missense_Mutation_p.G105S|ARL17A_ENST00000445552.2_Missense_Mutation_p.G105S|ARL17A_ENST00000337845.7_Silent_p.P193P			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCATTTGTGCCGGTGACCCCG	0.403																																						ENST00000445552.2																			0				lung(1)	1						c.(313-315)Ggc>Agc		ADP-ribosylation factor-like 17A																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594546C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-182C>T	17.37:g.44594546C>T						LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000329240.4_Missense_Mutation_p.G105S|ARL17A_ENST00000337845.7_Silent_p.P193P|LRRC37A2_ENST00000333412.3_Intron	p.G105S	NM_016632.2	NP_057716.2	Q8IVW1	ARL17_HUMAN			4	399	-			0					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.313G>A	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.675|5.675	0.309209|0.309209	0.10733|0.10733	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000445552;ENST00000329240|ENST00000358484	T;T|.	0.69306|.	-0.39;-0.39|.	2.51|2.51	0.454|0.454	0.16644|0.16644	.|.	.|.	.|.	.|.	.|.	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25047|0.25047	-1.0143|-1.0143	7|6	0.16896|0.87932	T|D	0.51|0	.|.	4.3931|4.3931	0.11350|0.11350	0.0:0.6578:0.0:0.3422|0.0:0.6578:0.0:0.3422	.|.	.|.	.|.	.|.	S|Q	105|128	ENSP00000416535:G105S;ENSP00000331563:G105S|.	ENSP00000331563:G105S|ENSP00000351272:R128Q	G|R	-|-	1|2	0|0	ARL17A|ARL17A	41949862|41949862	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.031000|0.031000	0.12232|0.12232	-0.098000|-0.098000	0.11024|0.11024	0.170000|0.170000	0.19704|0.19704	0.175000|0.175000	0.17021|0.17021	GGC|CGG		0.403	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		64	118	0	0	0	1	0	64	118				
GTF2E1	2960	broad.mit.edu	37	3	120469788	120469788	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120469788C>A	ENST00000283875.5	+	2	482	c.389C>A	c.(388-390)cCt>cAt	p.P130H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	130					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTCAAATGTCCTGTCTGTAGT	0.393																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(388-390)cCt>cAt		general transcription factor IIE, polypeptide 1, alpha 56kDa							71.0	73.0	72.0					3																	120469788		2203	4299	6502	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469788C>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.389C>A	3.37:g.120469788C>A	ENSP00000283875:p.Pro130His						p.P130H	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	482	+			130					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.389C>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372274	0.82573	.	.	ENSG00000153767	ENST00000283875	T	0.67345	-0.26	5.95	5.08	0.68730	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.83524	0.0087	9	.	.	.	-15.5731	14.5652	0.68171	0.0:0.9303:0.0:0.0697	.	130;130	P29083;Q53F88	T2EA_HUMAN;.	H	130	ENSP00000283875:P130H	.	P	+	2	0	GTF2E1	121952478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.097000	0.71452	1.542000	0.49330	-0.123000	0.14984	CCT		0.393	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		16	37	1	0	3.41278e-10	1	3.64137e-10	16	37				
PRR30	339779	broad.mit.edu	37	2	27360640	27360640	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27360640G>A	ENST00000335524.3	-	3	1083	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		186										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(556-558)tcC>tcT		chromosome 2 open reading frame 53							47.0	50.0	49.0					2																	27360640		2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360640G>A																												ENST00000335524.3:c.558C>T	2.37:g.27360640G>A							p.S186S	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1083	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.558C>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027184	0.19512	.	.	ENSG00000186143	ENST00000432962	.	.	.	4.67	2.77	0.32553	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	5	0.87932	D	0	.	6.9897	0.24748	0.0:0.1911:0.6112:0.1977	.	.	.	.	W	22	.	ENSP00000393468:R22W	R	-	1	2	C2orf53	27214144	0.014000	0.17966	0.010000	0.14722	0.019000	0.09904	2.038000	0.41184	2.401000	0.81631	0.561000	0.74099	CGG		0.637	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			22	22	0	0	0	1	0	22	22				
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(313-315)aGc>aTc		SMG5 nonsense mediated mRNA decay factor							64.0	55.0	58.0					1																	156247016		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156247016C>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.314G>T	1.37:g.156247016C>A	ENSP00000355261:p.Ser105Ile					SMG5_ENST00000368267.4_Missense_Mutation_p.S105I	p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			4	458	-	Hepatocellular(266;0.158)		105					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.314G>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916478	0.92249	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17691	2.26;2.26	5.92	5.92	0.95590	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.39737	0.685	P	0.48901	0.594	T	0.00359	-1.1791	10	0.66056	D	0.02	-7.4881	18.8866	0.92381	0.0:1.0:0.0:0.0	.	105	Q9UPR3	SMG5_HUMAN	I	105	ENSP00000355261:S105I;ENSP00000357250:S105I	ENSP00000355261:S105I	S	-	2	0	SMG5	154513640	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.594000	0.82698	2.797000	0.96272	0.555000	0.69702	AGC		0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		6	10	1	0	0.00116845	1	0.0011864	6	10				
COX7A1	1346	broad.mit.edu	37	19	36642611	36642611	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36642611C>T	ENST00000292907.3	-	2	523	c.62G>A	c.(61-63)cGc>cAc	p.R21H	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	21					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTTCTGAAAGCGGTTCCGGGC	0.706																																						ENST00000292907.3																			0				endometrium(2)|large_intestine(1)	3						c.(61-63)cGc>cAc		cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)							17.0	21.0	20.0					19																	36642611		2194	4297	6491	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36642611C>T	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.62G>A	19.37:g.36642611C>T	ENSP00000292907:p.Arg21His					COX7A1_ENST00000437291.2_5'UTR	p.R21H	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	523	-	Esophageal squamous(110;0.162)		21						Missense_Mutation	SNP	ENST00000292907.3	37	c.62G>A	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.912|9.912	1.209733|1.209733	0.22289|0.22289	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000437291|ENST00000292907	.|T	.|0.45668	.|0.89	5.62|5.62	-3.99|-3.99	0.04069|0.04069	.|.	.|0.863289	.|0.10403	.|N	.|0.678955	T|T	0.16085|0.16085	0.0387|0.0387	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.33752|0.33752	-0.9856|-0.9856	4|9	.|0.08599	.|T	.|0.76	-2.6948|-2.6948	5.7205|5.7205	0.17985|0.17985	0.1479:0.2725:0.0:0.5796|0.1479:0.2725:0.0:0.5796	.|.	.|21	.|P24310	.|CX7A1_HUMAN	T|H	51|21	.|ENSP00000292907:R21H	.|ENSP00000292907:R21H	A|R	-|-	1|2	0|0	COX7A1|COX7A1	41334451|41334451	0.091000|0.091000	0.21658|0.21658	0.396000|0.396000	0.26296|0.26296	0.033000|0.033000	0.12548|0.12548	-0.638000|-0.638000	0.05452|0.05452	-0.144000|-0.144000	0.11314|0.11314	0.639000|0.639000	0.83563|0.83563	GCT|CGC		0.706	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		3	6	0	0	0	1	0	3	6				
DHRS4L2	317749	broad.mit.edu	37	14	24459436	24459436	+	Silent	SNP	C	C	T	rs11556286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24459436C>T	ENST00000335125.6	+	2	300	c.174C>T	c.(172-174)caC>caT	p.H58H	DHRS4L2_ENST00000397071.1_Silent_p.H58H|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Silent_p.H58H|DHRS4L2_ENST00000558753.1_Silent_p.H58H|DHRS4L2_ENST00000545240.1_Silent_p.H58H|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.H56H	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	56						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ACAGGGCCCACGTGGTCGTCA	0.652																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(172-174)caC>caT		dehydrogenase/reductase (SDR family) member 4 like 2							54.0	57.0	56.0					14																	24459436		2202	4298	6500	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24459436C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.174C>T	14.37:g.24459436C>T						DHRS4L2_ENST00000558753.1_Silent_p.H58H|DHRS4L2_ENST00000545240.1_Silent_p.H58H|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Silent_p.H58H|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.H56H|DHRS4L2_ENST00000397071.1_Silent_p.H58H	p.H58H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	300	+			30					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.174C>T	CCDS9606.2																																																																																				0.652	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			24	43	0	0	0	1	0	24	43				
ANAPC7	51434	broad.mit.edu	37	12	110815420	110815420	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110815420G>A	ENST00000455511.3	-	9	1237	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.L413F	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CATTCGATAAGACCTGAAAAA	0.413																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1237-1239)Ctt>Ttt		anaphase promoting complex subunit 7							127.0	109.0	115.0					12																	110815420		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110815420G>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1237C>T	12.37:g.110815420G>A	ENSP00000394394:p.Leu413Phe					ANAPC7_ENST00000450008.2_Missense_Mutation_p.L413F|ANAPC7_ENST00000481473.1_5'UTR	p.L413F	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			9	1237	-			413					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.1237C>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	33	5.219371	0.95139	.	.	ENSG00000196510	ENST00000455511;ENST00000486321;ENST00000450008;ENST00000471602;ENST00000548234	D;T	0.82526	-1.62;0.29	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.991;0.982	D	0.89643	0.3864	10	0.56958	D	0.05	-21.4794	20.5568	0.99304	0.0:0.0:1.0:0.0	.	413;413	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	F	413;11;413;106;115	ENSP00000394394:L413F;ENSP00000402314:L413F	ENSP00000402314:L413F	L	-	1	0	ANAPC7	109299803	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.307000	0.72815	2.861000	0.98227	0.655000	0.94253	CTT		0.413	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		26	30	0	0	0	1	0	26	30				
FNDC7	163479	broad.mit.edu	37	1	109271293	109271293	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109271293C>T	ENST00000370017.3	+	8	1686	c.1409C>T	c.(1408-1410)gCa>gTa	p.A470V	FNDC7_ENST00000271311.2_Missense_Mutation_p.A471V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	470	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TCAAGGGATGCATTCTCCATG	0.413																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1408-1410)gCa>gTa		fibronectin type III domain containing 7							111.0	101.0	104.0					1																	109271293		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109271293C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1409C>T	1.37:g.109271293C>T	ENSP00000359034:p.Ala470Val					FNDC7_ENST00000271311.2_Missense_Mutation_p.A471V	p.A470V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	8	1686	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	471			Fibronectin type-III 6.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1409C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787383	0.31593	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.24723	2.1;1.84	5.91	2.9	0.33743	Fibronectin, type III (3);	0.333679	0.36101	N	0.002790	T	0.08670	0.0215	L	0.57536	1.79	0.09310	N	1	B;B	0.30021	0.04;0.265	B;B	0.26969	0.075;0.054	T	0.22347	-1.0219	10	0.37606	T	0.19	-2.6167	6.521	0.22275	0.2388:0.5823:0.1153:0.0636	.	471;470	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	V	470;471	ENSP00000359034:A470V;ENSP00000271311:A471V	ENSP00000271311:A471V	A	+	2	0	FNDC7	109072816	0.002000	0.14202	0.008000	0.14137	0.625000	0.37756	0.464000	0.21988	0.343000	0.23821	0.555000	0.69702	GCA		0.413	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		15	45	0	0	0	1	0	15	45				
HIVEP2	3097	broad.mit.edu	37	6	143092710	143092710	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143092710G>A	ENST00000367604.1	-	4	3805	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	HIVEP2_ENST00000367603.2_Silent_p.L1056L|HIVEP2_ENST00000012134.2_Silent_p.L1056L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1056					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCATGGGACAGATTCCCATAA	0.552																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3166-3168)Ctg>Ttg		human immunodeficiency virus type I enhancer binding protein 2							34.0	36.0	35.0					6																	143092710		1990	4168	6158	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092710G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3166C>T	6.37:g.143092710G>A						HIVEP2_ENST00000367604.1_Silent_p.L1056L|HIVEP2_ENST00000012134.2_Silent_p.L1056L	p.L1056L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3908	-			1056					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.3166C>T	CCDS43510.1																																																																																				0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			19	14	0	0	0	1	0	19	14				
PTPRA	5786	broad.mit.edu	37	20	2967425	2967425	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2967425A>G	ENST00000216877.6	+	6	830	c.430A>G	c.(430-432)Att>Gtt	p.I144V	PTPRA_ENST00000399903.2_Missense_Mutation_p.I153V|PTPRA_ENST00000318266.5_Missense_Mutation_p.I144V|PTPRA_ENST00000425918.2_Missense_Mutation_p.I164V|PTPRA_ENST00000380393.3_Missense_Mutation_p.I153V|PTPRA_ENST00000356147.3_Missense_Mutation_p.I144V|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	144					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACACCAATTATTGCGGTGAT	0.433																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(430-432)Att>Gtt		protein tyrosine phosphatase, receptor type, A							338.0	263.0	289.0					20																	2967425		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2967425A>G		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.430A>G	20.37:g.2967425A>G	ENSP00000216877:p.Ile144Val					PTPRA_ENST00000399903.2_Missense_Mutation_p.I153V|PTPRA_ENST00000425918.2_Missense_Mutation_p.I164V|PTPRA_ENST00000380393.3_Missense_Mutation_p.I153V|PTPRA_ENST00000356147.3_Missense_Mutation_p.I144V|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000318266.5_Missense_Mutation_p.I144V	p.I144V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			6	830	+			144					A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.430A>G	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598420	0.66332	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	T;T;T;T;T;T;T;T	0.58358	3.8;0.57;3.87;3.8;3.8;3.87;0.34;3.87	5.81	5.81	0.92471	.	0.056814	0.64402	U	0.000002	T	0.39989	0.1099	N	0.24115	0.695	0.80722	D	1	B;B;B	0.28850	0.144;0.225;0.225	B;B;B	0.30316	0.053;0.114;0.114	T	0.24584	-1.0156	10	0.15499	T	0.54	.	16.1677	0.81782	1.0:0.0:0.0:0.0	.	164;153;144	B7Z2A4;P18433-3;P18433-4	.;.;.	V	153;144;144;153;153;164;144;153;144	ENSP00000369756:I153V;ENSP00000414089:I144V;ENSP00000216877:I144V;ENSP00000382787:I153V;ENSP00000393553:I164V;ENSP00000314568:I144V;ENSP00000394132:I153V;ENSP00000348468:I144V	ENSP00000216877:I144V	I	+	1	0	PTPRA	2915425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.989000	0.93506	2.218000	0.71995	0.528000	0.53228	ATT		0.433	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			31	58	0	0	0	1	0	31	58				
IYD	389434	broad.mit.edu	37	6	150719366	150719366	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150719366C>T	ENST00000344419.3	+	5	1003	c.863C>T	c.(862-864)aCa>aTa	p.T288I	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	288					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ATCATGGTGACAGTGTAGGCA	0.622																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(862-864)aCa>aTa		iodotyrosine deiodinase							59.0	59.0	59.0					6																	150719366		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150719366C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.863C>T	6.37:g.150719366C>T	ENSP00000343763:p.Thr288Ile					IYD_ENST00000229447.5_3'UTR	p.T288I	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	5	1003	+		Ovarian(120;0.028)	288					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.863C>T	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	C	5.611	0.297537	0.10622	.	.	ENSG00000009765	ENST00000344419	T	0.70282	-0.47	5.94	2.83	0.33086	Nitroreductase-like (1);	.	.	.	.	T	0.29652	0.0740	N	0.13168	0.305	0.39396	D	0.966501	B	0.14012	0.009	B	0.06405	0.002	T	0.08932	-1.0698	9	0.22706	T	0.39	.	7.4893	0.27452	0.0:0.5957:0.0:0.4043	.	288	Q6PHW0	IYD1_HUMAN	I	288	ENSP00000343763:T288I	ENSP00000343763:T288I	T	+	2	0	IYD	150761059	0.158000	0.22850	0.707000	0.30419	0.292000	0.27327	0.458000	0.21892	0.876000	0.35872	-0.752000	0.03492	ACA		0.622	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		11	29	0	0	0	1	0	11	29				
TXLNA	200081	broad.mit.edu	37	1	32653640	32653640	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32653640G>A	ENST00000373609.1	+	4	964	c.683G>A	c.(682-684)cGc>cAc	p.R228H	TXLNA_ENST00000373610.3_Missense_Mutation_p.R228H			P40222	TXLNA_HUMAN	taxilin alpha	228				R -> C (in Ref. 5; AAH80578). {ECO:0000305}.	B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GACCACCTGCGCGGTGAGCAC	0.617																																						ENST00000373609.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(682-684)cGc>cAc		taxilin alpha							42.0	38.0	40.0					1																	32653640		2203	4300	6503	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32653640G>A	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.683G>A	1.37:g.32653640G>A	ENSP00000362711:p.Arg228His					TXLNA_ENST00000373610.3_Missense_Mutation_p.R228H	p.R228H			P40222	TXLNA_HUMAN			4	964	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	228	R -> C (in Ref. 5; AAH80578).				D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.683G>A	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606539	0.87157	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.32023	1.47;1.47	5.24	5.24	0.73138	.	0.102176	0.64402	D	0.000004	T	0.49150	0.1540	M	0.64170	1.965	0.47153	D	0.999339	D	0.67145	0.996	D	0.63033	0.91	T	0.49447	-0.8939	10	0.87932	D	0	-7.8494	13.0074	0.58712	0.085:0.0:0.915:0.0	.	228	P40222	TXLNA_HUMAN	H	228	ENSP00000362712:R228H;ENSP00000362711:R228H	ENSP00000362711:R228H	R	+	2	0	TXLNA	32426227	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	4.858000	0.62947	2.611000	0.88343	0.655000	0.94253	CGC		0.617	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		5	6	0	0	0	1	0	5	6				
ATF7IP	55729	broad.mit.edu	37	12	14578311	14578311	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14578311C>T	ENST00000540793.1	+	1	1617	c.1462C>T	c.(1462-1464)Cca>Tca	p.P488S	ATF7IP_ENST00000544627.1_Missense_Mutation_p.P496S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P488S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P488S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	488	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGAGAGTTTGCCAAAAGAAGC	0.393																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1486-1488)Cca>Tca		activating transcription factor 7 interacting protein							48.0	50.0	50.0					12																	14578311		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14578311C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1462C>T	12.37:g.14578311C>T	ENSP00000444589:p.Pro488Ser					ATF7IP_ENST00000543189.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P488S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P488S	p.P496S			Q6VMQ6	MCAF1_HUMAN			2	1806	+			488			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1486C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436767	0.83885	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.64618	1.68;1.66;1.68;1.67;-0.11;1.68	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000027	T	0.77844	0.4191	L	0.59436	1.845	0.50467	D	0.999874	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.999;0.998;0.998;1.0;1.0	T	0.79142	-0.1925	10	0.87932	D	0	-12.6452	19.52	0.95182	0.0:1.0:0.0:0.0	.	496;488;496;488;488;488;99	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	S	488;488;488;496;488;488	ENSP00000261168:P488S;ENSP00000443179:P488S;ENSP00000445955:P488S;ENSP00000440440:P496S;ENSP00000379575:P488S;ENSP00000444589:P488S	ENSP00000261168:P488S	P	+	1	0	ATF7IP	14469578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.312000	0.65792	2.671000	0.90904	0.591000	0.81541	CCA		0.393	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		22	41	0	0	0	1	0	22	41				
CREBBP	1387	broad.mit.edu	37	16	3807828	3807828	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3807828T>C	ENST00000262367.5	-	18	4400	c.3591A>G	c.(3589-3591)ggA>ggG	p.G1197G	CREBBP_ENST00000382070.3_Silent_p.G1159G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1197					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACAGCAATATCCAAGGGACT	0.453			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3589-3591)ggA>ggG		CREB binding protein							94.0	83.0	86.0					16																	3807828		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807828T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3591A>G	16.37:g.3807828T>C						CREBBP_ENST00000382070.3_Silent_p.G1159G	p.G1197G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	4400	-		Ovarian(90;0.0266)	1197					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.3591A>G	CCDS10509.1																																																																																				0.453	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	22	0	0	0	1	0	15	22				
KRTAP9-9	81870	broad.mit.edu	37	17	39411907	39411907	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39411907C>T	ENST00000394008.1	+	1	272	c.270C>T	c.(268-270)tgC>tgT	p.C90C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	75	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GGTCCAGCTGCTGTGGCCAAA	0.632																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(268-270)tgC>tgT		keratin associated protein 9-9							59.0	61.0	60.0					17																	39411907		2203	4300	6503	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411907C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.270C>T	17.37:g.39411907C>T							p.C90C	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	272	+		Breast(137;0.000496)	90					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.270C>T	CCDS54127.1																																																																																				0.632	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		33	31	0	0	0	1	0	33	31				
OR4C12	283093	broad.mit.edu	37	11	50003697	50003697	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:50003697G>A	ENST00000335238.4	-	1	374	c.341C>T	c.(340-342)aCa>aTa	p.T114I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGCCATCACTGTCAGCAGGAT	0.483																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(340-342)aCa>aTa		olfactory receptor, family 4, subfamily C, member 12							150.0	149.0	150.0					11																	50003697		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003697G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.341C>T	11.37:g.50003697G>A	ENSP00000334418:p.Thr114Ile						p.T114I	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	374	-			114					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.341C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	4.259	0.047205	0.08243	.	.	ENSG00000221954	ENST00000335238	T	0.01347	4.99	3.31	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.372428	0.19266	N	0.118529	T	0.01387	0.0045	L	0.38175	1.15	0.19945	N	0.999947	B	0.06786	0.001	B	0.12837	0.008	T	0.47394	-0.9121	10	0.18276	T	0.48	.	8.6774	0.34187	0.1202:0.0:0.8798:0.0	.	114	Q96R67	OR4CC_HUMAN	I	114	ENSP00000334418:T114I	ENSP00000334418:T114I	T	-	2	0	OR4C12	49960273	0.002000	0.14202	0.537000	0.28052	0.932000	0.56968	1.265000	0.33027	0.747000	0.32809	0.398000	0.26397	ACA		0.483	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		35	63	0	0	0	1	0	35	63				
NOTCH4	4855	broad.mit.edu	37	6	32169087	32169087	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32169087C>T	ENST00000375023.3	-	22	4084	c.3946G>A	c.(3946-3948)Gcc>Acc	p.A1316T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1316					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACCCGGGCCAGGGCAAAC	0.647																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3946-3948)Gcc>Acc		notch 4							39.0	44.0	42.0					6																	32169087		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169087C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3946G>A	6.37:g.32169087C>T	ENSP00000364163:p.Ala1316Thr						p.A1316T	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			22	4084	-			1316					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3946G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974725	0.53720	.	.	ENSG00000204301	ENST00000375023	T	0.81330	-1.48	4.37	4.37	0.52481	.	0.396846	0.18239	N	0.147306	T	0.73001	0.3531	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.57204	0.815	T	0.77161	-0.2689	10	0.72032	D	0.01	.	10.3775	0.44090	0.0:0.8008:0.1992:0.0	.	1316	Q99466	NOTC4_HUMAN	T	1316	ENSP00000364163:A1316T	ENSP00000364163:A1316T	A	-	1	0	NOTCH4	32277065	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.384000	0.34396	2.298000	0.77334	0.456000	0.33151	GCC		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			19	15	0	0	0	1	0	19	15				
ARID1B	57492	broad.mit.edu	37	6	157527546	157527546	+	Silent	SNP	C	C	T	rs555132244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157527546C>T	ENST00000350026.5	+	19	5233	c.5232C>T	c.(5230-5232)agC>agT	p.S1744S	ARID1B_ENST00000275248.4_Silent_p.S1739S|ARID1B_ENST00000346085.5_Silent_p.S1757S|ARID1B_ENST00000367148.1_Silent_p.S1797S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1744					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGACAGAAAGCGATGAAAAGA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19880	0.001		0.0	False		,,,				2504	0.0					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5269-5271)agC>agT		AT rich interactive domain 1B (SWI1-like)							93.0	90.0	91.0					6																	157527546		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157527546C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5232C>T	6.37:g.157527546C>T						ARID1B_ENST00000367148.1_Silent_p.S1797S|ARID1B_ENST00000350026.5_Silent_p.S1744S|ARID1B_ENST00000275248.4_Silent_p.S1739S	p.S1757S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5272	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1744					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5271C>T	CCDS5251.2																																																																																				0.527	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		33	60	0	0	0	1	0	33	60				
RHOJ	57381	broad.mit.edu	37	14	63747840	63747840	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63747840T>C	ENST00000316754.3	+	3	851	c.389T>C	c.(388-390)cTc>cCc	p.L130P	RHOJ_ENST00000555125.1_Missense_Mutation_p.L130P	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	130					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CCTTATGTCCTCATAGGGACC	0.527																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(388-390)cTc>cCc		ras homolog family member J							104.0	84.0	91.0					14																	63747840		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747840T>C	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.389T>C	14.37:g.63747840T>C	ENSP00000316729:p.Leu130Pro					RHOJ_ENST00000555125.1_Missense_Mutation_p.L130P	p.L130P	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	851	+			130					Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.389T>C	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711416	0.89112	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	D;D	0.85955	-2.05;-2.05	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.95847	0.8648	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97705	1.0187	10	0.87932	D	0	.	16.2774	0.82651	0.0:0.0:0.0:1.0	.	130	Q9H4E5	RHOJ_HUMAN	P	130	ENSP00000316729:L130P;ENSP00000451643:L130P	ENSP00000316729:L130P	L	+	2	0	RHOJ	62817593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.020000	0.88740	2.247000	0.74100	0.482000	0.46254	CTC		0.527	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			3	15	0	0	0	1	0	3	15				
WEE1	7465	broad.mit.edu	37	11	9608137	9608137	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9608137C>T	ENST00000450114.2	+	9	1865	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	WEE1_ENST00000299613.6_Missense_Mutation_p.L324F	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	538	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ACCACAAGTGCTTTCCCAAGA	0.398																																						ENST00000299613.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(970-972)Ctt>Ttt		WEE1 G2 checkpoint kinase							109.0	107.0	108.0					11																	9608137		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608137C>T	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1612C>T	11.37:g.9608137C>T	ENSP00000402084:p.Leu538Phe					WEE1_ENST00000450114.2_Missense_Mutation_p.L538F	p.L324F	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1725	+			538			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.970C>T	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281985	0.95489	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712	T;T;T	0.75260	0.95;0.95;-0.92	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064406	0.64402	D	0.000005	D	0.83436	0.5254	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80167	-0.1495	10	0.36615	T	0.2	-12.7005	20.452	0.99131	0.0:1.0:0.0:0.0	.	538	P30291	WEE1_HUMAN	F	538;324;144	ENSP00000402084:L538F;ENSP00000299613:L324F;ENSP00000434148:L144F	ENSP00000299613:L324F	L	+	1	0	WEE1	9564713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.104000	0.77024	2.838000	0.97847	0.591000	0.81541	CTT		0.398	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		35	53	0	0	0	1	0	35	53				
ZNF429	353088	broad.mit.edu	37	19	21720843	21720843	+	Missense_Mutation	SNP	G	G	A	rs368726828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21720843G>A	ENST00000358491.4	+	4	2196	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agaggtgggcggatcacgagg	0.453																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1987-1989)cGg>cAg		zinc finger protein 429		G	GLN/ARG	0,3756		0,0,1878	23.0	23.0	23.0		1988	-0.8	0.0	19		23	2,8216		0,2,4107	no	missense	ZNF429	NM_001001415.2	43	0,2,5985	AA,AG,GG		0.0243,0.0,0.0167	benign	663/675	21720843	2,11972	1878	4109	5987	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720843G>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1988G>A	19.37:g.21720843G>A	ENSP00000351280:p.Arg663Gln					ZNF429_ENST00000597078.1_Intron	p.R663Q	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	2196	+			663					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1988G>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	1.520	-0.547216	0.04024	0.0	2.43E-4	ENSG00000197013	ENST00000358491	T	0.50548	0.74	0.418	-0.836	0.10770	.	.	.	.	.	T	0.25827	0.0629	L	0.33339	1.005	0.09310	N	1	P	0.37594	0.601	B	0.25506	0.061	T	0.10590	-1.0623	9	0.59425	D	0.04	.	2.5455	0.04736	0.2633:0.3028:0.4338:0.0	.	663	Q86V71	ZN429_HUMAN	Q	663	ENSP00000351280:R663Q	ENSP00000351280:R663Q	R	+	2	0	ZNF429	21512683	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.498000	0.06420	-0.643000	0.05473	-0.706000	0.03657	CGG		0.453	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		13	37	0	0	0	1	0	13	37				
FRMD3	257019	broad.mit.edu	37	9	85863022	85863022	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85863022G>A	ENST00000304195.3	-	14	1811	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Silent_p.G341G|FRMD3_ENST00000376438.1_Silent_p.G535G|FRMD3_ENST00000328788.1_Silent_p.G192G	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	535						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCAGTCCCAGGCCCACCACAA	0.527																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1603-1605)ggC>ggT		FERM domain containing 3							52.0	58.0	56.0					9																	85863022		1951	4143	6094	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863022G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1605C>T	9.37:g.85863022G>A						FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Silent_p.G192G|FRMD3_ENST00000376438.1_Silent_p.G535G|FRMD3_ENST00000376434.1_Silent_p.G341G	p.G535G	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1811	-			535					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.1605C>T	CCDS43840.1																																																																																				0.527	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		11	14	0	0	0	1	0	11	14				
KRT73	319101	broad.mit.edu	37	12	53012272	53012272	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53012272C>T	ENST00000305748.3	-	1	71	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	13	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCCCTTGGCAGCAGCTCCC	0.617																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(37-39)Gcc>Acc		keratin 73							36.0	42.0	40.0					12																	53012272		2202	4299	6501	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012272C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.37G>A	12.37:g.53012272C>T	ENSP00000307014:p.Ala13Thr						p.A13T	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	71	-			13			Gly-rich.|Head.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.37G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	4.368	0.067891	0.08436	.	.	ENSG00000186049	ENST00000305748	D	0.95949	-3.86	4.58	-7.81	0.01210	.	1.321610	0.05599	N	0.575982	D	0.86070	0.5845	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75952	-0.3136	10	0.27082	T	0.32	.	2.0544	0.03578	0.301:0.1717:0.0815:0.4458	.	13	Q86Y46	K2C73_HUMAN	T	13	ENSP00000307014:A13T	ENSP00000307014:A13T	A	-	1	0	KRT73	51298539	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-3.972000	0.00322	-1.901000	0.01096	-0.302000	0.09304	GCC		0.617	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		23	36	0	0	0	1	0	23	36				
COL19A1	1310	broad.mit.edu	37	6	70909410	70909410	+	Missense_Mutation	SNP	C	C	T	rs372101279		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:70909410C>T	ENST00000322773.4	+	49	3295	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P687S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1065	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGATGGGTTGCCTGGGCCACC	0.493																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(3193-3195)Cct>Tct		collagen, type XIX, alpha 1		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	65.0	70.0	68.0		3193	5.9	1.0	6		68	0,8600		0,0,4300	no	missense	COL19A1	NM_001858.4	74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1065/1143	70909410	1,13005	2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909410C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3193C>T	6.37:g.70909410C>T	ENSP00000316030:p.Pro1065Ser					COL19A1_ENST00000393344.1_Missense_Mutation_p.P687S	p.P1065S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			49	3295	+			1065			Triple-helical region 6 (COL6).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3193C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615523	0.66672	2.27E-4	0.0	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.95885	-3.84;-3.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	M	0.81179	2.53	0.51233	D	0.999914	D	0.89917	1.0	D	0.83275	0.996	D	0.96667	0.9493	10	0.44086	T	0.13	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1065	Q14993	COJA1_HUMAN	S	1065;687;140	ENSP00000316030:P1065S;ENSP00000377013:P687S	ENSP00000316030:P1065S	P	+	1	0	COL19A1	70966131	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	5.326000	0.65875	2.804000	0.96469	0.650000	0.86243	CCT		0.493	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			16	39	0	0	0	1	0	16	39				
CHRNG	1146	broad.mit.edu	37	2	233407646	233407646	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233407646C>T	ENST00000389494.3	+	7	680	c.659C>T	c.(658-660)gCg>gTg	p.A220V	CHRNG_ENST00000389492.3_Missense_Mutation_p.A168V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	220					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CTGGACCCAGCGGCGCCAGCC	0.632																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(658-660)gCg>gTg		cholinergic receptor, nicotinic, gamma (muscle)							121.0	98.0	106.0					2																	233407646		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233407646C>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.659C>T	2.37:g.233407646C>T	ENSP00000374145:p.Ala220Val					CHRNG_ENST00000389492.3_Missense_Mutation_p.A168V	p.A220V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	7	680	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	220					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.659C>T	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004711	0.07866	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.76968	-1.06;-1.06	4.96	-9.92	0.00455	Neurotransmitter-gated ion-channel ligand-binding (3);	0.907755	0.09554	N	0.786478	T	0.40423	0.1116	N	0.03050	-0.425	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.004;0.005	T	0.35025	-0.9805	10	0.16420	T	0.52	.	2.4663	0.04554	0.3177:0.1044:0.3897:0.1883	.	168;220	Q14DU4;P07510	.;ACHG_HUMAN	V	220;220;168	ENSP00000374145:A220V;ENSP00000374143:A168V	ENSP00000374143:A168V	A	+	2	0	CHRNG	233115890	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.995000	0.01472	-2.398000	0.00580	-0.379000	0.06801	GCG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		14	16	0	0	0	1	0	14	16				
CAPN1	823	broad.mit.edu	37	11	64974115	64974115	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64974115G>A	ENST00000527323.1	+	12	1775	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CAPN1_ENST00000279247.6_Missense_Mutation_p.R512H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R512H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	512	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TTCGTGCTGCGCTTCTTCTCA	0.647																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1534-1536)cGc>cAc		calpain 1, (mu/I) large subunit							30.0	35.0	33.0					11																	64974115		2092	4208	6300	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64974115G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1535G>A	11.37:g.64974115G>A	ENSP00000431984:p.Arg512His					CAPN1_ENST00000279247.6_Missense_Mutation_p.R512H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533820.1_Missense_Mutation_p.R512H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R512H	p.R512H			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	12	1775	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	512			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1535G>A	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837144	0.91117	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.06	5.06	0.68205	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97850	1.0274	10	0.72032	D	0.01	.	15.9138	0.79496	0.0:0.0:1.0:0.0	.	512	P07384	CAN1_HUMAN	H	512;512;512;512;458;512	ENSP00000435272:R512H;ENSP00000431686:R512H;ENSP00000434176:R512H;ENSP00000279247:R512H;ENSP00000431984:R512H	ENSP00000259755:R458H	R	+	2	0	CAPN1	64730691	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	9.756000	0.98918	2.341000	0.79615	0.462000	0.41574	CGC		0.647	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			14	25	0	0	0	1	0	14	25				
SMARCD1	6602	broad.mit.edu	37	12	50483696	50483696	+	Silent	SNP	C	C	T	rs373391634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50483696C>T	ENST00000394963.4	+	7	1199	c.801C>T	c.(799-801)acC>acT	p.T267T	SMARCD1_ENST00000548573.1_Silent_p.T65T|SMARCD1_ENST00000381513.4_Silent_p.T267T	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCCAGGAGACCGATGGCTTTC	0.577																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(799-801)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1		C	,	1,4405	2.1+/-5.4	0,1,2202	169.0	149.0	156.0		801,801	-10.6	0.1	12		156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SMARCD1	NM_003076.4,NM_139071.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	267/516,267/475	50483696	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50483696C>T	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.801C>T	12.37:g.50483696C>T						SMARCD1_ENST00000381513.4_Silent_p.T267T|SMARCD1_ENST00000548573.1_Silent_p.T65T	p.T267T	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			7	1199	+			267			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.			Silent	SNP	ENST00000394963.4	37	c.801C>T	CCDS8797.2																																																																																				0.577	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		8	19	0	0	0	1	0	8	19				
MXD3	83463	broad.mit.edu	37	5	176734595	176734595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176734595C>T	ENST00000439742.2	-	6	1093	c.615G>A	c.(613-615)tgG>tgA	p.W205*	MXD3_ENST00000513063.1_Nonsense_Mutation_p.W205*|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000423571.2_Missense_Mutation_p.G231D	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	205					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACATCATAGCCAGGCGCCGC	0.687																																						ENST00000439742.2																			0											c.(613-615)tgG>tgA		MAX dimerization protein 3							16.0	18.0	18.0					5																	176734595		2196	4299	6495	SO:0001587	stop_gained	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176734595C>T	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.615G>A	5.37:g.176734595C>T	ENSP00000401867:p.Trp205*					MXD3_ENST00000423571.2_Missense_Mutation_p.G231D|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Nonsense_Mutation_p.W205*	p.W205*	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1093	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	205					B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Nonsense_Mutation	SNP	ENST00000439742.2	37	c.615G>A	CCDS4416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.05|15.05	2.717450|2.717450	0.48622|0.48622	.|.	.|.	ENSG00000213347|ENSG00000213347	ENST00000423571|ENST00000439742;ENST00000303165;ENST00000513063	T|.	0.34275|.	1.37|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.724902	.|0.14458	.|N	.|0.318397	T|.	0.17365|.	0.0417|.	.|.	.|.	.|.	0.26525|0.26525	N|N	0.974354|0.974354	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|.	0.06972|.	-1.0797|.	8|.	0.49607|0.02654	T|T	0.09|1	.|.	13.0563|13.0563	0.58982|0.58982	0.0:0.9188:0.0:0.0812|0.0:0.9188:0.0:0.0812	.|.	231|.	B4E0J1|.	.|.	D|X	231|205;196;205	ENSP00000389716:G231D|.	ENSP00000389716:G231D|ENSP00000307720:W196X	G|W	-|-	2|3	0|0	MXD3|MXD3	176667201|176667201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.085000|0.085000	0.17905|0.17905	6.566000|6.566000	0.73978|0.73978	2.135000|2.135000	0.66039|0.66039	0.491000|0.491000	0.48974|0.48974	GGC|TGG		0.687	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			6	15	0	0	0	1	0	6	15				
IFT140	9742	broad.mit.edu	37	16	1573865	1573865	+	Silent	SNP	G	G	A	rs200748918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1573865G>A	ENST00000426508.2	-	25	3597	c.3234C>T	c.(3232-3234)ggC>ggT	p.G1078G	IFT140_ENST00000361339.5_Silent_p.G272G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1078					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCATCTGCACGCCCTTCTCCT	0.667																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3232-3234)ggC>ggT		intraflagellar transport 140 homolog (Chlamydomonas)							77.0	59.0	65.0					16																	1573865		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1573865G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3234C>T	16.37:g.1573865G>A						IFT140_ENST00000361339.5_Silent_p.G272G	p.G1078G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			25	3597	-		Hepatocellular(780;0.219)	1078					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3234C>T	CCDS10439.1																																																																																				0.667	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		7	20	0	0	0	1	0	7	20				
DGKH	160851	broad.mit.edu	37	13	42761257	42761257	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42761257C>T	ENST00000337343.4	+	14	1632	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A	DGKH_ENST00000536612.1_Silent_p.A401A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.A537A|DGKH_ENST00000261491.5_Silent_p.A537A|DGKH_ENST00000379274.2_Silent_p.A401A|DGKH_ENST00000538674.1_Silent_p.A292A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	537					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGAAAATGCCGTTGTAGCTG	0.413																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1201-1203)gcC>gcT		diacylglycerol kinase, eta							122.0	134.0	130.0					13																	42761257		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761257C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1611C>T	13.37:g.42761257C>T						DGKH_ENST00000540693.1_Silent_p.A537A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.A537A|DGKH_ENST00000538674.1_Silent_p.A292A|DGKH_ENST00000536612.1_Silent_p.A401A|DGKH_ENST00000261491.4_Silent_p.A537A	p.A401A			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1632	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	537			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1203C>T	CCDS9381.1																																																																																				0.413	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		25	43	0	0	0	1	0	25	43				
PIKFYVE	200576	broad.mit.edu	37	2	209167059	209167059	+	Silent	SNP	G	G	A	rs377571496		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209167059G>A	ENST00000264380.4	+	10	1460	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	PIKFYVE_ENST00000407449.1_Silent_p.A434A|PIKFYVE_ENST00000308862.6_Silent_p.A348A|PIKFYVE_ENST00000392202.3_Silent_p.A337A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	434	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGAGTATGCGCTGTATAGAC	0.408																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1300-1302)gcG>gcA		phosphoinositide kinase, FYVE finger containing							118.0	100.0	106.0					2																	209167059		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209167059G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1302G>A	2.37:g.209167059G>A						PIKFYVE_ENST00000392202.3_Silent_p.A337A|PIKFYVE_ENST00000308862.6_Silent_p.A348A|PIKFYVE_ENST00000407449.1_Silent_p.A434A	p.A434A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			10	1460	+			434			DEP.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.1302G>A	CCDS2382.1																																																																																				0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	34	0	0	0	1	0	4	34				
CHRM3	1131	broad.mit.edu	37	1	240072217	240072217	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240072217C>T	ENST00000255380.4	+	5	2245	c.1466C>T	c.(1465-1467)gCg>gTg	p.A489V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	489					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAGAAGAAAGCGGCCCAGACC	0.512																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1465-1467)gCg>gTg		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						136.0	129.0	132.0					1																	240072217		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072217C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1466C>T	1.37:g.240072217C>T	ENSP00000255380:p.Ala489Val						p.A489V	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2245	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	489					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1466C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643372	0.67244	.	.	ENSG00000133019	ENST00000255380	T	0.37752	1.18	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35773	-0.9775	10	0.33940	T	0.23	-11.2982	20.1653	0.98150	0.0:1.0:0.0:0.0	.	489	P20309	ACM3_HUMAN	V	489	ENSP00000255380:A489V	ENSP00000255380:A489V	A	+	2	0	CHRM3	238138840	1.000000	0.71417	0.557000	0.28306	0.982000	0.71751	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG		0.512	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		29	44	0	0	0	1	0	29	44				
ZFP90	146198	broad.mit.edu	37	16	68591960	68591960	+	Silent	SNP	C	C	T	rs376978594		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68591960C>T	ENST00000570495.1	+	3	385	c.93C>T	c.(91-93)gtC>gtT	p.V31V	ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000564323.1_Silent_p.V31V|ZFP90_ENST00000398253.2_Silent_p.V31V|ZFP90_ENST00000563169.2_Silent_p.V31V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V31V(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GGTACCATGTCGACCCTGCTC	0.478																																						ENST00000570495.1																			1	Substitution - coding silent(1)	p.V31V(1)	lung(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(91-93)gtC>gtT		ZFP90 zinc finger protein		C		0,4396		0,0,2198	142.0	141.0	141.0		93	2.4	0.1	16		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP90	NM_133458.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		31/637	68591960	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68591960C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.93C>T	16.37:g.68591960C>T						ZFP90_ENST00000564323.1_Silent_p.V31V|ZFP90_ENST00000563169.2_Silent_p.V31V|ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000398253.2_Silent_p.V31V	p.V31V			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	3	385	+		Ovarian(137;0.192)	31			KRAB.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.93C>T	CCDS42183.1																																																																																				0.478	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		42	64	0	0	0	1	0	42	64				
MAP10	54627	broad.mit.edu	37	1	232940773	232940773	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:232940773G>A	ENST00000418460.1	+	1	131	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CACAGAGATGGCCCACTGTGG	0.483																																						ENST00000418460.1																			0											c.(4-6)Gcc>Acc		microtubule-associated protein 10							128.0	126.0	127.0					1																	232940773		1947	4155	6102	SO:0001583	missense	54627							g.chr1:232940773G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.4G>A	1.37:g.232940773G>A	ENSP00000403208:p.Ala2Thr						p.A2T	NM_019090.2	NP_061963.2					1	131	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.4G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033888	0.54896	.	.	ENSG00000212916	ENST00000418460	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	T	0.44201	0.1282	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37103	-0.9720	5	0.87932	D	0	.	8.6157	0.33831	0.0:0.0:1.0:0.0	.	.	.	.	T	2	.	ENSP00000403208:A2T	A	+	1	0	KIAA1383	231007396	0.011000	0.17503	0.002000	0.10522	0.012000	0.07955	2.770000	0.47662	1.714000	0.51371	0.313000	0.20887	GCC		0.483	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		4	75	0	0	0	1	0	4	75				
SLC6A5	9152	broad.mit.edu	37	11	20648287	20648287	+	Missense_Mutation	SNP	G	G	A	rs281864924		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:20648287G>A	ENST00000525748.1	+	8	1567	c.1294G>A	c.(1294-1296)Gta>Ata	p.V432I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	432					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCGTATGTCGTACTCGTGAT	0.582																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63	GRCh37	CX063756	SLC6A5	X		c.(1294-1296)Gta>Ata		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						133.0	118.0	123.0					11																	20648287		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648287G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1294G>A	11.37:g.20648287G>A	ENSP00000434364:p.Val432Ile						p.V432I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1567	+			432					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1294G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276625	0.59758	.	.	ENSG00000165970	ENST00000525748	T	0.76839	-1.05	6.04	6.04	0.98038	.	0.052641	0.85682	D	0.000000	D	0.84252	0.5431	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.83396	0.0020	10	0.52906	T	0.07	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	432	Q9Y345	SC6A5_HUMAN	I	432	ENSP00000434364:V432I	ENSP00000434364:V432I	V	+	1	0	SLC6A5	20604863	1.000000	0.71417	0.996000	0.52242	0.360000	0.29518	8.062000	0.89475	2.873000	0.98535	0.561000	0.74099	GTA		0.582	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		22	28	0	0	0	1	0	22	28				
PLXNA3	55558	broad.mit.edu	37	X	153696474	153696474	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153696474C>T	ENST00000369682.3	+	22	4045	c.3870C>T	c.(3868-3870)gaC>gaT	p.D1290D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1290					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCACATGGACGAGGTGCAGA	0.622																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3868-3870)gaC>gaT		plexin A3							138.0	103.0	115.0					X																	153696474		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696474C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3870C>T	X.37:g.153696474C>T							p.D1290D	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			22	4045	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1290					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.3870C>T	CCDS14752.1																																																																																				0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		21	3	0	0	0	1	0	21	3				
PCED1B	91523	broad.mit.edu	37	12	47629002	47629002	+	Silent	SNP	G	G	A	rs543024534		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47629002G>A	ENST00000546455.1	+	4	887	c.156G>A	c.(154-156)ggG>ggA	p.G52G	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.G52G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	52							hydrolase activity (GO:0016787)										GAGCAAGGGGGGAGCTGAACT	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18635	0.0		0.0	False		,,,				2504	0.0					ENST00000546455.1																			0											c.(154-156)ggG>ggA		PC-esterase domain containing 1B							78.0	70.0	73.0					12																	47629002		2203	4300	6503	SO:0001819	synonymous_variant	91523							g.chr12:47629002G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.156G>A	12.37:g.47629002G>A						PCED1B_ENST00000432328.1_Silent_p.G52G	p.G52G							4	887	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.156G>A	CCDS8752.1																																																																																				0.612	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		12	17	0	0	0	1	0	12	17				
COQ5	84274	broad.mit.edu	37	12	120960094	120960094	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120960094C>T	ENST00000288532.6	-	2	315	c.275G>A	c.(274-276)cGt>cAt	p.R92H	COQ5_ENST00000445328.2_Missense_Mutation_p.R92H	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	92					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.R92H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCCAAACACGATGGATACC	0.458																																						ENST00000288532.6																			1	Substitution - Missense(1)	p.R92H(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(274-276)cGt>cAt		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							223.0	179.0	194.0					12																	120960094		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960094C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.275G>A	12.37:g.120960094C>T	ENSP00000288532:p.Arg92His					COQ5_ENST00000445328.2_Missense_Mutation_p.R92H	p.R92H	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			2	315	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		92					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.275G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	36	5.764996	0.96906	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.86740	2.835	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86510	0.1809	10	0.72032	D	0.01	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	92;92	B4DP72;Q5HYK3	.;COQ5_HUMAN	H	92;92;92;11;11;66	ENSP00000288532:R92H;ENSP00000401798:R92H;ENSP00000449863:R11H;ENSP00000450001:R11H;ENSP00000449933:R66H	ENSP00000288532:R92H	R	-	2	0	COQ5	119444477	1.000000	0.71417	0.938000	0.37757	0.991000	0.79684	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	CGT		0.458	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		19	37	0	0	0	1	0	19	37				
ELP3	55140	broad.mit.edu	37	8	28017893	28017893	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28017893G>A	ENST00000256398.8	+	13	1782	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	ELP3_ENST00000542181.1_Missense_Mutation_p.V340I|ELP3_ENST00000521015.1_Missense_Mutation_p.V455I|ELP3_ENST00000380353.4_Missense_Mutation_p.V377I|ELP3_ENST00000537665.1_Missense_Mutation_p.V350I|ELP3_ENST00000524103.1_Missense_Mutation_p.V397I	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	469	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGGTGGAGGTGTCTCCATAGT	0.458																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1405-1407)Gtc>Atc		elongator acetyltransferase complex subunit 3							160.0	135.0	144.0					8																	28017893		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017893G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1405G>A	8.37:g.28017893G>A	ENSP00000256398:p.Val469Ile					ELP3_ENST00000524103.1_Missense_Mutation_p.V397I|ELP3_ENST00000521015.1_Missense_Mutation_p.V455I|ELP3_ENST00000380353.4_Missense_Mutation_p.V377I|ELP3_ENST00000537665.1_Missense_Mutation_p.V350I|ELP3_ENST00000542181.1_Missense_Mutation_p.V340I	p.V469I	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1782	+		Ovarian(32;0.0218)	469			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.1405G>A	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881308	0.72294	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.119975	0.56097	D	0.000030	T	0.70911	0.3278	M	0.77820	2.39	0.58432	D	0.999999	B;B	0.22003	0.009;0.063	B;B	0.29440	0.027;0.102	T	0.70927	-0.4739	9	0.56958	D	0.05	-21.9871	16.5174	0.84304	0.0:0.0:1.0:0.0	.	350;469	B4DE19;Q9H9T3	.;ELP3_HUMAN	I	455;469;340;397;350;377;68	.	ENSP00000256398:V469I	V	+	1	0	ELP3	28073812	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.898000	0.87363	2.543000	0.85770	0.655000	0.94253	GTC		0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		15	23	0	0	0	1	0	15	23				
TMEM55A	55529	broad.mit.edu	37	8	92033484	92033484	+	Splice_Site	SNP	C	C	T	rs145247675	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92033484C>T	ENST00000285419.3	-	2	569	c.255G>A	c.(253-255)acG>acA	p.T85T	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	85						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTCCACTTACCGTAGCTTCAT	0.348													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17684	0.0		0.0	False		,,,				2504	0.0					ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.e2+1		transmembrane protein 55A							88.0	81.0	83.0					8																	92033484		2203	4300	6503	SO:0001630	splice_region_variant	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92033484C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.255+1G>A	8.37:g.92033484C>T							p.T85_splice	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		2	569	-			85					B2R9H4|Q68CU2	Splice_Site	SNP	ENST00000285419.3	37	c.255_splice	CCDS6252.1																																																																																				0.348	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	Silent	25	65	0	0	0	1	0	25	65				
TTLL4	9654	broad.mit.edu	37	2	219609893	219609893	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219609893C>A	ENST00000392102.1	+	6	2063	c.1723C>A	c.(1723-1725)Ctc>Atc	p.L575I	TTLL4_ENST00000457313.1_Missense_Mutation_p.L410I|TTLL4_ENST00000442769.1_Missense_Mutation_p.L575I|TTLL4_ENST00000258398.4_Missense_Mutation_p.L575I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	575					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCGACCAGCCCTCATCTACAG	0.473																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1723-1725)Ctc>Atc		tubulin tyrosine ligase-like family, member 4							204.0	197.0	199.0					2																	219609893		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219609893C>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1723C>A	2.37:g.219609893C>A	ENSP00000375951:p.Leu575Ile					TTLL4_ENST00000442769.1_Missense_Mutation_p.L575I|TTLL4_ENST00000258398.4_Missense_Mutation_p.L575I|TTLL4_ENST00000457313.1_Missense_Mutation_p.L410I	p.L575I	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	6	2063	+		Renal(207;0.0915)	575					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1723C>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249241	0.80024	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.11604	3.39;3.6;2.76;3.6	5.3	4.39	0.52855	.	0.361441	0.22961	N	0.053553	T	0.25382	0.0617	M	0.75777	2.31	0.42251	D	0.991975	P;P;D	0.56746	0.926;0.908;0.977	B;B;P	0.58721	0.354;0.444;0.844	T	0.01496	-1.1340	10	0.66056	D	0.02	.	8.4082	0.32627	0.0:0.8162:0.0:0.1838	.	410;575;575	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	I	410;575;575;575	ENSP00000393332:L410I;ENSP00000375951:L575I;ENSP00000396555:L575I;ENSP00000258398:L575I	ENSP00000258398:L575I	L	+	1	0	TTLL4	219318137	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	2.743000	0.47442	1.386000	0.46466	0.655000	0.94253	CTC		0.473	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		42	67	1	0	2.24893e-16	1	2.47033e-16	42	67				
KLRC1	3821	broad.mit.edu	37	12	10603748	10603748	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10603748T>C	ENST00000359151.3	-	2	189	c.8A>G	c.(7-9)aAc>aGc	p.N3S	KLRC1_ENST00000536188.1_Missense_Mutation_p.N3S|KLRC1_ENST00000347831.5_Missense_Mutation_p.N3S|KLRC1_ENST00000544822.1_Missense_Mutation_p.N3S|KLRC1_ENST00000408006.3_Missense_Mutation_p.N3S	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	3					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TACTCCTTGGTTATCCATCTC	0.393																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(7-9)aAc>aGc		killer cell lectin-like receptor subfamily C, member 1							88.0	79.0	82.0					12																	10603748		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10603748T>C	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.8A>G	12.37:g.10603748T>C	ENSP00000352064:p.Asn3Ser					KLRC1_ENST00000408006.3_Missense_Mutation_p.N3S|KLRC1_ENST00000347831.5_Missense_Mutation_p.N3S|KLRC1_ENST00000536188.1_Missense_Mutation_p.N3S|KLRC1_ENST00000359151.3_Missense_Mutation_p.N3S	p.N3S	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			3	395	-			3						Missense_Mutation	SNP	ENST00000359151.3	37	c.8A>G	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	T	5.877	0.345971	0.11126	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.96	0.257	0.15574	.	0.347182	0.25025	N	0.033725	T	0.08268	0.0206	M	0.66439	2.03	0.09310	N	1	P;B	0.35383	0.498;0.002	B;B	0.41236	0.351;0.006	T	0.19160	-1.0314	10	0.62326	D	0.03	.	2.3338	0.04242	0.2129:0.2381:0.0:0.549	.	3;3	P26715-2;P26715	.;NKG2A_HUMAN	S	3	ENSP00000441432:N3S;ENSP00000352064:N3S;ENSP00000385304:N3S;ENSP00000256965:N3S;ENSP00000438038:N3S	ENSP00000256965:N3S	N	-	2	0	KLRC1	10495015	0.001000	0.12720	0.100000	0.21137	0.015000	0.08874	0.285000	0.18883	0.161000	0.19458	-0.250000	0.11733	AAC		0.393	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		11	19	0	0	0	1	0	11	19				
ELANE	1991	broad.mit.edu	37	19	852991	852991	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:852991G>A	ENST00000590230.1	+	3	324	c.183G>A	c.(181-183)gcG>gcA	p.A61A	ELANE_ENST00000263621.1_Silent_p.A61A			P08246	ELNE_HUMAN	elastase, neutrophil expressed	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> V (in SCN1 and CH). {ECO:0000269|PubMed:10581030, ECO:0000269|PubMed:23463630}.|IA -> R. {ECO:0000269|PubMed:23463630}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTGATTGCGCCCAACTTCG	0.716																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(181-183)gcG>gcA		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						6.0	7.0	6.0					19																	852991		2128	4147	6275	SO:0001819	synonymous_variant	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:852991G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.183G>A	19.37:g.852991G>A						ELANE_ENST00000263621.1_Silent_p.A61A	p.A61A			P08246	ELNE_HUMAN			3	324	+			61			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.183G>A	CCDS12045.1																																																																																				0.716	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		3	6	0	0	0	1	0	3	6				
MEGF8	1954	broad.mit.edu	37	19	42855367	42855367	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42855367G>T	ENST00000251268.6	+	16	2736		c.e16-1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGACCCCCAGGACCCCTTCT	0.667																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e15-1		multiple EGF-like-domains 8							7.0	7.0	7.0					19																	42855367		2136	4227	6363	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42855367G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2737-1G>T	19.37:g.42855367G>T						MEGF8_ENST00000251268.6_Splice_Site		NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			15	3170	+		Prostate(69;0.00682)						A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37			.	.	.	.	.	.	.	.	.	.	G	21.8	4.201147	0.79015	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1648	0.81747	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47547207	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.180000	0.89694	2.408000	0.81797	0.655000	0.94253	.		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Intron	3	2	1	0	0.00024832	1	0.000253518	3	2				
YES1	7525	broad.mit.edu	37	18	756827	756827	+	Start_Codon_SNP	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:756827T>C	ENST00000584307.1	-	2	171	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	YES1_ENST00000314574.4_Start_Codon_SNP_p.M1V|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.M6V			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	1					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ATGCAGCCCATTATCAAATCT	0.343																																						ENST00000577961.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(16-18)Atg>Gtg		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						59.0	53.0	55.0					18																	756827		2203	4300	6503	SO:0001582	initiator_codon_variant	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:756827T>C	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1A>G	18.37:g.756827T>C	ENSP00000462468:p.Met1Val					YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Start_Codon_SNP_p.M1V|YES1_ENST00000584307.1_Start_Codon_SNP_p.M1V	p.M6V			P07947	YES_HUMAN			2	86	-			1					A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.16A>G	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934180	0.52866	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.73575	-0.76	4.91	4.91	0.64330	.	0.075443	0.85682	D	0.000000	D	0.86176	0.5870	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.88410	0.3021	9	0.87932	D	0	.	14.8451	0.70254	0.0:0.0:0.0:1.0	.	1	P07947	YES_HUMAN	V	1	ENSP00000324740:M1V	ENSP00000324740:M1V	M	-	1	0	YES1	746827	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.148000	0.77389	1.970000	0.57323	0.459000	0.35465	ATG		0.343	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	Missense_Mutation	12	24	0	0	0	1	0	12	24				
NLRP14	338323	broad.mit.edu	37	11	7067910	7067910	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7067910G>A	ENST00000299481.4	+	5	2316	c.1970G>A	c.(1969-1971)cGc>cAc	p.R657H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	657					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.R657H(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATGGTGATCGCATTACTCAC	0.373																																						ENST00000299481.4																			2	Substitution - Missense(2)	p.R657H(2)	large_intestine(2)	breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1969-1971)cGc>cAc		NLR family, pyrin domain containing 14							227.0	196.0	206.0					11																	7067910		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7067910G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1970G>A	11.37:g.7067910G>A	ENSP00000299481:p.Arg657His						p.R657H	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	5	2316	+			657					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1970G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	7.837	0.721116	0.15372	.	.	ENSG00000158077	ENST00000299481	D	0.89343	-2.5	3.99	-7.98	0.01135	.	1.873340	0.03014	N	0.149773	T	0.74596	0.3737	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66540	-0.5898	10	0.15066	T	0.55	.	5.9816	0.19411	0.71:0.0895:0.1027:0.0978	.	657	Q86W24	NAL14_HUMAN	H	657	ENSP00000299481:R657H	ENSP00000299481:R657H	R	+	2	0	NLRP14	7024486	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-3.243000	0.00543	-2.789000	0.00357	-0.991000	0.02546	CGC		0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		53	79	0	0	0	1	0	53	79				
CACTIN	58509	broad.mit.edu	37	19	3623889	3623889	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3623889G>A	ENST00000429344.2	-	2	491	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CACTIN_ENST00000221899.3_Missense_Mutation_p.R79W|CACTIN_ENST00000248420.5_Missense_Mutation_p.R147W	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	147					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGCTCCTCCCGCAGCCGCAGC	0.711																																						ENST00000429344.2																			0											c.(439-441)Cgg>Tgg		cactin, spliceosome C complex subunit							15.0	19.0	18.0					19																	3623889		1974	4103	6077	SO:0001583	missense	58509							g.chr19:3623889G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.439C>T	19.37:g.3623889G>A	ENSP00000415078:p.Arg147Trp					CACTIN_ENST00000248420.5_Missense_Mutation_p.R147W|CACTIN_ENST00000221899.3_Missense_Mutation_p.R79W	p.R147W	NM_001080543.1	NP_001074012.1					2	491	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.439C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721773	0.30503	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.71	2.47	0.30058	.	0.150665	0.44688	D	0.000422	T	0.27731	0.0682	L	0.50333	1.59	0.29543	N	0.851953	D	0.56968	0.978	B	0.41299	0.353	T	0.32455	-0.9906	9	0.87932	D	0	.	5.4171	0.16380	0.1102:0.0:0.489:0.4008	.	147	Q8WUQ7	CS029_HUMAN	W	147;147;79	.	ENSP00000221899:R79W	R	-	1	2	C19orf29	3574889	0.988000	0.35896	0.799000	0.32177	0.231000	0.25187	4.283000	0.58977	0.981000	0.38548	-0.258000	0.10820	CGG		0.711	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			11	15	0	0	0	1	0	11	15				
FBN3	84467	broad.mit.edu	37	19	8175995	8175995	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8175995C>T	ENST00000600128.1	-	33	4571	c.4157G>A	c.(4156-4158)cGc>cAc	p.R1386H	FBN3_ENST00000270509.2_Missense_Mutation_p.R1386H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1386H			Q75N90	FBN3_HUMAN	fibrillin 3	1386	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACATTCACAGCGGTACCCGCC	0.652																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4156-4158)cGc>cAc		fibrillin 3							77.0	70.0	72.0					19																	8175995		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175995C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4157G>A	19.37:g.8175995C>T	ENSP00000470498:p.Arg1386His					FBN3_ENST00000270509.2_Missense_Mutation_p.R1386H|FBN3_ENST00000601739.1_Missense_Mutation_p.R1386H	p.R1386H			Q75N90	FBN3_HUMAN			33	4571	-			1386			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4157G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752347	0.31046	.	.	ENSG00000142449	ENST00000270509	D	0.87571	-2.27	3.67	2.61	0.31194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.85191	0.5640	N	0.20304	0.555	0.46954	D	0.999261	D	0.69078	0.997	P	0.59948	0.866	D	0.84725	0.0742	10	0.59425	D	0.04	.	10.9886	0.47537	0.0:0.9048:0.0:0.0952	.	1386	Q75N90	FBN3_HUMAN	H	1386	ENSP00000270509:R1386H	ENSP00000270509:R1386H	R	-	2	0	FBN3	8081995	1.000000	0.71417	0.996000	0.52242	0.162000	0.22319	3.553000	0.53713	0.643000	0.30638	0.462000	0.41574	CGC		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	12	0	0	0	1	0	9	12				
COL5A1	1289	broad.mit.edu	37	9	137681047	137681047	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137681047G>A	ENST00000371817.3	+	32	3107	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	898	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)			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)		GGAGAGAAGGGCGGCAGGGTA	0.572																																						ENST00000371817.3																			0				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						c.(2692-2694)gGc>gAc		collagen, type V, alpha 1							43.0	40.0	41.0					9																	137681047		2200	4300	6500	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.chr9:137681047G>A	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.2693G>A	9.37:g.137681047G>A	ENSP00000360882:p.Gly898Asp						p.G898D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	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)	32	3107	+		Myeloproliferative disorder(178;0.0341)	898			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2693G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319002	0.81469	.	.	ENSG00000130635	ENST00000371817	D	0.99619	-6.28	4.18	4.18	0.49190	.	0.000000	0.64402	U	0.000001	D	0.99792	0.9912	H	0.98370	4.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96764	0.9563	10	0.87932	D	0	.	14.1013	0.65056	0.0:0.0:1.0:0.0	.	898	P20908	CO5A1_HUMAN	D	898	ENSP00000360882:G898D	ENSP00000360882:G898D	G	+	2	0	COL5A1	136820868	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	8.118000	0.89577	1.898000	0.54952	0.373000	0.22412	GGC		0.572	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	10	0	0	0	1	0	7	10				
ARMC9	80210	broad.mit.edu	37	2	232209767	232209767	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232209767C>T	ENST00000349938.4	+	21	2153	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	653						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGCAAAGGCCCGTCACCCCCG	0.537																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1957-1959)ccC>ccT		armadillo repeat containing 9							49.0	54.0	52.0					2																	232209767		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232209767C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1959C>T	2.37:g.232209767C>T						ARMC9_ENST00000483477.1_3'UTR	p.P653P	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	21	2153	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	653					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1959C>T	CCDS2484.1																																																																																				0.537	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	39	0	0	0	1	0	20	39				
MAU2	23383	broad.mit.edu	37	19	19451659	19451659	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19451659C>T	ENST00000392313.6	+	6	735	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	MAU2_ENST00000586189.3_3'UTR|MAU2_ENST00000262815.8_Silent_p.L186L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	186					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TTGCAGGGCGCTGTTCCTCCT	0.597																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(556-558)Ctg>Ttg		MAU2 sister chromatid cohesion factor							60.0	65.0	63.0					19																	19451659		2077	4218	6295	SO:0001819	synonymous_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19451659C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.556C>T	19.37:g.19451659C>T						MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Silent_p.L186L	p.L186L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			6	602	+			186					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	c.556C>T	CCDS32969.2																																																																																				0.597	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		8	16	0	0	0	1	0	8	16				
CYTH3	9265	broad.mit.edu	37	7	6210502	6210502	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6210502C>T	ENST00000350796.3	-	8	806	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.G139S	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	224					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TCGTTGATGCCGCGGTTCATG	0.647																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(670-672)Ggc>Agc		cytohesin 3							122.0	90.0	101.0					7																	6210502		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210502C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.670G>A	7.37:g.6210502C>T	ENSP00000297044:p.Gly224Ser					CYTH3_ENST00000396741.2_Missense_Mutation_p.G139S|CYTH3_ENST00000488964.1_5'UTR	p.G224S	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			8	806	-			224					A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.670G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946939	0.97134	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.59224	0.28;0.28	5.48	5.48	0.80851	.	0.044239	0.85682	N	0.000000	D	0.83175	0.5197	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.70716	0.952;0.97	D	0.87826	0.2641	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	139;224	B7Z2V9;O43739-2	.;.	S	224;139	ENSP00000297044:G224S;ENSP00000379967:G139S	ENSP00000297044:G224S	G	-	1	0	CYTH3	6177027	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	7.618000	0.83043	2.579000	0.87056	0.655000	0.94253	GGC		0.647	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		6	12	0	0	0	1	0	6	12				
YY1	7528	broad.mit.edu	37	14	100705584	100705584	+	Start_Codon_SNP	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100705584G>A	ENST00000262238.4	+	1	263	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	1	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCTCAGCCATGGCCTCGGGCG	0.741																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(1-3)atG>atA		YY1 transcription factor							8.0	7.0	7.0					14																	100705584		2097	4140	6237	SO:0001582	initiator_codon_variant	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705584G>A	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.3G>A	14.37:g.100705584G>A	ENSP00000262238:p.Met1Ile						p.M1I	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	263	+		Melanoma(154;0.152)	1					Q14935	Translation_Start_Site	SNP	ENST00000262238.4	37	c.3G>A	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.047052	0.36085	.	.	ENSG00000100811	ENST00000554371;ENST00000262238	T	0.16073	2.37	2.7	-0.707	0.11245	.	0.000000	0.85682	U	0.000000	T	0.11239	0.0274	.	.	.	0.45554	D	0.998504	B	0.06786	0.001	B	0.01281	0.0	T	0.09228	-1.0684	9	0.87932	D	0	.	4.5091	0.11903	0.1201:0.0:0.501:0.3789	.	1	P25490	TYY1_HUMAN	I	1	ENSP00000262238:M1I	ENSP00000262238:M1I	M	+	3	0	YY1	99775337	1.000000	0.71417	0.408000	0.26446	0.994000	0.84299	7.226000	0.78060	-0.291000	0.09012	0.538000	0.68166	ATG		0.741	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403	Missense_Mutation	3	6	0	0	0	1	0	3	6				
DDOST	1650	broad.mit.edu	37	1	20982022	20982022	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20982022C>T	ENST00000375048.3	-	5	618	c.513G>A	c.(511-513)acG>acA	p.T171T	DDOST_ENST00000602624.2_Silent_p.T154T|DDOST_ENST00000415136.2_Silent_p.T134T	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	171					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACGATGAGCGTATGCTGCA	0.527																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(511-513)acG>acA		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							106.0	107.0	107.0					1																	20982022		2203	4300	6503	SO:0001819	synonymous_variant	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20982022C>T	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.513G>A	1.37:g.20982022C>T						DDOST_ENST00000415136.2_Silent_p.T134T|DDOST_ENST00000602624.2_Silent_p.T154T	p.T171T	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	618	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	171					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	ENST00000375048.3	37	c.513G>A	CCDS212.1																																																																																				0.527	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		14	46	0	0	0	1	0	14	46				
CENPF	1063	broad.mit.edu	37	1	214819539	214819539	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214819539G>T	ENST00000366955.3	+	13	6794	c.6626G>T	c.(6625-6627)aGg>aTg	p.R2209M		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2305	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTCACGTTAAGGTCTGAAAAA	0.353																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(6625-6627)aGg>aTg		centromere protein F, 350/400kDa							47.0	53.0	51.0					1																	214819539		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214819539G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6626G>T	1.37:g.214819539G>T	ENSP00000355922:p.Arg2209Met						p.R2209M	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6794	+			2305			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.6626G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560599	0.65538	.	.	ENSG00000117724	ENST00000366955	T	0.54071	0.59	5.33	1.07	0.20283	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.220932	0.23686	N	0.045561	T	0.67702	0.2921	M	0.82056	2.57	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.59107	-0.7516	10	0.66056	D	0.02	.	9.2863	0.37760	0.4105:0.0:0.5895:0.0	.	2305	P49454	CENPF_HUMAN	M	2209	ENSP00000355922:R2209M	ENSP00000355922:R2209M	R	+	2	0	CENPF	212886162	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	-0.127000	0.10547	0.174000	0.19809	0.514000	0.50259	AGG		0.353	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		15	29	1	0	7.93312e-07	1	8.27737e-07	15	29				
DENND1A	57706	broad.mit.edu	37	9	126212986	126212986	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126212986G>A	ENST00000373624.2	-	18	1543	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	DENND1A_ENST00000542603.1_Missense_Mutation_p.R190C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.R416C|DENND1A_ENST00000394215.2_Missense_Mutation_p.R418C|DENND1A_ENST00000373620.3_Missense_Mutation_p.R448C|DENND1A_ENST00000394219.3_Missense_Mutation_p.R416C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	448					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCTTCAAGCGGTTTTTCACC	0.368																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1342-1344)Cgc>Tgc		DENN/MADD domain containing 1A							175.0	156.0	163.0					9																	126212986		2202	4300	6502	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126212986G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1342C>T	9.37:g.126212986G>A	ENSP00000362727:p.Arg448Cys					DENND1A_ENST00000542603.1_Missense_Mutation_p.R190C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.R418C|DENND1A_ENST00000373620.3_Missense_Mutation_p.R448C|DENND1A_ENST00000394219.3_Missense_Mutation_p.R416C|DENND1A_ENST00000373618.1_Missense_Mutation_p.R416C	p.R448C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			18	1543	-			448					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1342C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254101	0.80135	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.27557	3.15;1.66;3.06;3.2;3.06;3.06	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.988;0.988;0.969;0.99;0.983;0.973;0.997	T	0.63834	-0.6547	10	0.66056	D	0.02	-16.7059	19.8788	0.96888	0.0:0.0:1.0:0.0	.	416;406;416;418;448;448;268	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	C	448;190;416;448;418;416	ENSP00000362727:R448C;ENSP00000437457:R190C;ENSP00000377766:R416C;ENSP00000362722:R448C;ENSP00000377763:R418C;ENSP00000362720:R416C	ENSP00000362720:R416C	R	-	1	0	DENND1A	125252807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.240000	0.95396	2.683000	0.91414	0.655000	0.94253	CGC		0.368	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		7	44	0	0	0	1	0	7	44				
TRIM5	85363	broad.mit.edu	37	11	5701287	5701287	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5701287C>T	ENST00000380034.3	-	2	377	c.121G>A	c.(121-123)Gca>Aca	p.A41T	TRIM5_ENST00000380027.1_Missense_Mutation_p.A41T|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.A41T|TRIM5_ENST00000305836.5_Missense_Mutation_p.A41T|TRIM5_ENST00000396855.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396853.4_Missense_Mutation_p.A41T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	41					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTGTGGTTTGCAGTGAGGCAT	0.552																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(121-123)Gca>Aca		tripartite motif containing 5							123.0	108.0	113.0					11																	5701287		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701287C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.121G>A	11.37:g.5701287C>T	ENSP00000369373:p.Ala41Thr					TRIM5_ENST00000380027.1_Missense_Mutation_p.A41T|TRIM5_ENST00000380034.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396853.4_Missense_Mutation_p.A41T|TRIM5_ENST00000396855.3_Missense_Mutation_p.A41T|TRIM5_ENST00000396847.3_Missense_Mutation_p.A41T	p.A41T			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	423	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	41					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.121G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587881	0.28268	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.92699	-1.82;-3.09;-3.09;-1.82;-3.09;-1.82;-3.09;-3.09	4.07	0.917	0.19380	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.461070	0.04165	N	0.323797	D	0.89104	0.6620	N	0.05050	-0.12	0.09310	N	1	B;B;D	0.76494	0.367;0.367;0.999	B;B;D	0.73708	0.198;0.141;0.981	T	0.79780	-0.1659	10	0.40728	T	0.16	.	2.2485	0.04037	0.4238:0.3302:0.1425:0.1035	.	41;41;41	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	T	41	ENSP00000380064:A41T;ENSP00000307031:A41T;ENSP00000369373:A41T;ENSP00000369366:A41T;ENSP00000380058:A41T;ENSP00000380062:A41T;ENSP00000388031:A41T;ENSP00000388150:A41T	ENSP00000307031:A41T	A	-	1	0	TRIM5	5657863	0.000000	0.05858	0.007000	0.13788	0.047000	0.14425	-2.352000	0.01091	0.188000	0.20168	0.650000	0.86243	GCA		0.552	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		29	39	0	0	0	1	0	29	39				
PKHD1L1	93035	broad.mit.edu	37	8	110510781	110510781	+	Missense_Mutation	SNP	C	C	T	rs370152942	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110510781C>T	ENST00000378402.5	+	66	10794	c.10690C>T	c.(10690-10692)Cgg>Tgg	p.R3564W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3564					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCTGCTCATCGGAGTCCTAG	0.343										HNSCC(38;0.096)			C|||	5	0.000998403	0.0	0.0	5008	,	,		18066	0.005		0.0	False		,,,				2504	0.0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10690-10692)Cgg>Tgg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		C	TRP/ARG	0,3690		0,0,1845	131.0	121.0	124.0		10690	2.7	1.0	8		124	2,8204		0,2,4101	no	missense	PKHD1L1	NM_177531.4	101	0,2,5946	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	3564/4244	110510781	2,11894	1845	4103	5948	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110510781C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10690C>T	8.37:g.110510781C>T	ENSP00000367655:p.Arg3564Trp	HNSCC(38;0.096)					p.R3564W	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		66	10794	+			3564					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10690C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790328	0.70337	0.0	2.44E-4	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.88124	-2.34;-2.11	5.89	2.7	0.31948	.	0.071230	0.56097	D	0.000033	D	0.88362	0.6416	M	0.79926	2.475	0.26458	N	0.975499	D	0.58620	0.983	P	0.47162	0.54	T	0.82470	-0.0441	10	0.87932	D	0	.	11.4141	0.49941	0.5607:0.4393:0.0:0.0	.	3564	Q86WI1	PKHL1_HUMAN	W	3564;492	ENSP00000367655:R3564W;ENSP00000437376:R492W	ENSP00000367655:R3564W	R	+	1	2	PKHD1L1	110579957	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	0.932000	0.28884	0.655000	0.30866	0.655000	0.94253	CGG		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		16	20	0	0	0	1	0	16	20				
CNTROB	116840	broad.mit.edu	37	17	7842986	7842986	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7842986C>A	ENST00000563694.1	+	8	2008	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	CNTROB_ENST00000565740.1_Silent_p.T361T|CNTROB_ENST00000380255.3_Silent_p.T361T|CNTROB_ENST00000380262.3_Silent_p.T361T	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	361					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AACGGCAGACCTGGGCCCAGC	0.587																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1081-1083)acC>acA		centrobin, centrosomal BRCA2 interacting protein							58.0	56.0	57.0					17																	7842986		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842986C>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1083C>A	17.37:g.7842986C>A						CNTROB_ENST00000563694.1_Silent_p.T361T|CNTROB_ENST00000565740.1_Silent_p.T361T|CNTROB_ENST00000380255.3_Silent_p.T361T	p.T361T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	2008	+		Prostate(122;0.173)	361					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.1083C>A	CCDS11126.1																																																																																				0.587	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		21	21	1	0	1.15919e-05	1	1.19923e-05	21	21				
ABCB1	5243	broad.mit.edu	37	7	87179861	87179861	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87179861G>A	ENST00000265724.3	-	12	1564	c.1147C>T	c.(1147-1149)Cac>Tac	p.H383Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.H319Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	383					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTGGTTTGTGCCCACTCTTC	0.323																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1147-1149)Cac>Tac		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						100.0	96.0	97.0					7																	87179861		2203	4299	6502	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179861G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1147C>T	7.37:g.87179861G>A	ENSP00000265724:p.His383Tyr					ABCB1_ENST00000543898.1_Missense_Mutation_p.H319Y	p.H383Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			12	1564	-	Esophageal squamous(14;0.00164)		383					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1147C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	2.471	-0.321867	0.05386	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90133	-2.62;-2.62	5.98	4.17	0.49024	.	0.275476	0.42821	N	0.000645	T	0.75309	0.3832	N	0.04724	-0.175	0.31233	N	0.696108	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.65080	-0.6255	10	0.02654	T	1	-9.4818	10.1965	0.43058	0.2464:0.0:0.7536:0.0	.	319;383	B5AK60;P08183	.;MDR1_HUMAN	Y	164;383;319	ENSP00000265724:H383Y;ENSP00000444095:H319Y	ENSP00000265724:H383Y	H	-	1	0	ABCB1	87017797	0.075000	0.21258	0.993000	0.49108	0.964000	0.63967	0.574000	0.23714	1.531000	0.49152	0.563000	0.77884	CAC		0.323	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	94	0	0	0	1	0	14	94				
ZAP70	7535	broad.mit.edu	37	2	98340697	98340697	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98340697C>T	ENST00000264972.5	+	3	413	c.198C>T	c.(196-198)aaC>aaT	p.N66N	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	66	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCAGCTCAACGGCACCTACG	0.667																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(196-198)aaC>aaT		zeta-chain (TCR) associated protein kinase 70kDa							18.0	16.0	17.0					2																	98340697		2195	4292	6487	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340697C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.198C>T	2.37:g.98340697C>T							p.N66N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			3	413	+			66			SH2 1.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.198C>T	CCDS33254.1																																																																																				0.667	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	8	0	0	0	1	0	10	8				
MPO	4353	broad.mit.edu	37	17	56350205	56350205	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56350205C>A	ENST00000225275.3	-	10	1872	c.1696G>T	c.(1696-1698)Gat>Tat	p.D566Y	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D598Y	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	566					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGATCTCATCCACTGCAATT	0.612																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1792-1794)Gat>Tat		myeloperoxidase	Cefdinir(DB00535)						136.0	136.0	136.0					17																	56350205		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350205C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1696G>T	17.37:g.56350205C>A	ENSP00000225275:p.Asp566Tyr					MPO_ENST00000225275.3_Missense_Mutation_p.D566Y	p.D598Y			P05164	PERM_HUMAN			9	1968	-			566					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1792G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170937	0.57584	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74737	-0.87;-0.87	5.1	4.11	0.48088	.	0.110515	0.64402	D	0.000010	D	0.85243	0.5652	M	0.85859	2.78	0.46701	D	0.999166	D	0.89917	1.0	D	0.91635	0.999	D	0.85476	0.1176	10	0.72032	D	0.01	-14.7749	8.2898	0.31950	0.0:0.7588:0.1584:0.0828	.	566	P05164	PERM_HUMAN	Y	598;566	ENSP00000344419:D598Y;ENSP00000225275:D566Y	ENSP00000225275:D566Y	D	-	1	0	MPO	53705204	1.000000	0.71417	0.956000	0.39512	0.899000	0.52679	1.988000	0.40697	1.090000	0.41315	0.561000	0.74099	GAT		0.612	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			41	83	1	0	1.62957e-23	1	1.81649e-23	41	83				
UACA	55075	broad.mit.edu	37	15	70959254	70959254	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70959254C>A	ENST00000322954.6	-	16	3954	c.3769G>T	c.(3769-3771)Gta>Tta	p.V1257L	UACA_ENST00000560441.1_Missense_Mutation_p.V1242L|UACA_ENST00000539319.1_Missense_Mutation_p.V1148L|UACA_ENST00000379983.2_Missense_Mutation_p.V1244L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1257					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCCTCACATACTTCCTCATAC	0.333																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3769-3771)Gta>Tta		uveal autoantigen with coiled-coil domains and ankyrin repeats							154.0	151.0	152.0					15																	70959254		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959254C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3769G>T	15.37:g.70959254C>A	ENSP00000314556:p.Val1257Leu					UACA_ENST00000560441.1_Missense_Mutation_p.V1242L|UACA_ENST00000539319.1_Missense_Mutation_p.V1148L|UACA_ENST00000379983.2_Missense_Mutation_p.V1244L	p.V1257L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3954	-			1257					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3769G>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604610	0.28623	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.33865	1.39;1.42;1.88	5.85	4.93	0.64822	.	0.568573	0.16843	N	0.197263	T	0.27384	0.0672	L	0.42245	1.32	0.21220	N	0.999755	B;B;B;B	0.32188	0.121;0.124;0.124;0.359	B;B;B;B	0.29176	0.042;0.019;0.019;0.099	T	0.09907	-1.0653	10	0.25751	T	0.34	-10.1296	8.8613	0.35258	0.0:0.7917:0.0:0.2083	.	1148;1257;1257;1244	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	L	1257;1244;1148	ENSP00000314556:V1257L;ENSP00000369319:V1244L;ENSP00000438667:V1148L	ENSP00000314556:V1257L	V	-	1	0	UACA	68746308	0.888000	0.30383	0.977000	0.42913	0.995000	0.86356	1.112000	0.31172	2.767000	0.95098	0.655000	0.94253	GTA		0.333	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			6	123	1	0	0.000157383	1	0.000161063	6	123				
SLC6A19	340024	broad.mit.edu	37	5	1216688	1216688	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1216688G>T	ENST00000304460.10	+	7	959	c.903G>T	c.(901-903)aaG>aaT	p.K301N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	301					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGCGAGAAGGACTCGGTGA	0.607																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(901-903)aaG>aaT		solute carrier family 6 (neutral amino acid transporter), member 19							282.0	201.0	228.0					5																	1216688		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216688G>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.903G>T	5.37:g.1216688G>T	ENSP00000305302:p.Lys301Asn						p.K301N	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	959	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		301					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.903G>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886896	0.72410	.	.	ENSG00000174358	ENST00000304460	T	0.75367	-0.93	4.61	3.73	0.42828	.	0.488685	0.23727	N	0.045164	T	0.75436	0.3849	L	0.52364	1.645	0.33128	D	0.542746	P	0.40731	0.728	P	0.50896	0.653	T	0.82090	-0.0629	10	0.66056	D	0.02	.	9.5847	0.39510	0.1678:0.0:0.8322:0.0	.	301	Q695T7	S6A19_HUMAN	N	301	ENSP00000305302:K301N	ENSP00000305302:K301N	K	+	3	2	SLC6A19	1269688	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	2.360000	0.44151	2.112000	0.64535	0.491000	0.48974	AAG		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		11	63	1	0	0.00010058	1	0.000103117	11	63				
SYNE2	23224	broad.mit.edu	37	14	64637027	64637027	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64637027C>T	ENST00000344113.4	+	94	17294	c.17082C>T	c.(17080-17082)gaC>gaT	p.D5694D	SYNE2_ENST00000554584.1_Silent_p.D5569D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D2079D|SYNE2_ENST00000358025.3_Silent_p.D5694D|SYNE2_ENST00000555002.1_Silent_p.D2328D|SYNE2_ENST00000357395.3_Silent_p.D2079D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5694					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAAGGGTGACGTTGATGGGC	0.502																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6235-6237)gaC>gaT		spectrin repeat containing, nuclear envelope 2							167.0	139.0	148.0					14																	64637027		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64637027C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17082C>T	14.37:g.64637027C>T						SYNE2_ENST00000358025.3_Silent_p.D5694D|SYNE2_ENST00000554584.1_Silent_p.D5569D|SYNE2_ENST00000344113.4_Silent_p.D5694D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D2328D|SYNE2_ENST00000394768.2_Silent_p.D2079D	p.D2079D			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	95	17381	+			5694					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.6237C>T	CCDS41963.1																																																																																				0.502	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		20	37	0	0	0	1	0	20	37				
TEKT2	27285	broad.mit.edu	37	1	36552435	36552435	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36552435C>T	ENST00000207457.3	+	5	746	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	207					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R207C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGACCCCACACGTGTACCTGA	0.562																																						ENST00000207457.3																			1	Substitution - Missense(1)	p.R207C(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(619-621)Cgt>Tgt		tektin 2 (testicular)							149.0	126.0	134.0					1																	36552435		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552435C>T	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.619C>T	1.37:g.36552435C>T	ENSP00000207457:p.Arg207Cys						p.R207C	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			5	746	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	207					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.619C>T	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731951	0.48939	.	.	ENSG00000092850	ENST00000207457	T	0.03358	3.96	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02294	-1.1181	10	0.87932	D	0	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	207	Q9UIF3	TEKT2_HUMAN	C	207	ENSP00000207457:R207C	ENSP00000207457:R207C	R	+	1	0	TEKT2	36325022	0.997000	0.39634	0.811000	0.32455	0.191000	0.23601	3.706000	0.54830	2.654000	0.90174	0.563000	0.77884	CGT		0.562	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		26	47	0	0	0	1	0	26	47				
CEP350	9857	broad.mit.edu	37	1	180044193	180044193	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180044193G>T	ENST00000367607.3	+	28	6022	c.5604G>T	c.(5602-5604)cgG>cgT	p.R1868R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1868					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAATGCAACGGCGACAACATG	0.443																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5602-5604)cgG>cgT		centrosomal protein 350kDa							60.0	54.0	56.0					1																	180044193		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180044193G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5604G>T	1.37:g.180044193G>T							p.R1868R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			28	6022	+			1868					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.5604G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416243	0.25552	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.81	-0.437	0.12272	.	.	.	.	.	T	0.42040	0.1185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	.	2.1428	0.03779	0.372:0.21:0.3155:0.1025	.	.	.	.	S	43	.	.	A	+	1	0	CEP350	178310816	0.941000	0.31946	0.877000	0.34402	0.992000	0.81027	0.026000	0.13599	-0.106000	0.12110	0.591000	0.81541	GCG		0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	6	1	0	0.0477658	1	0.0480142	8	6				
AP1G1	164	broad.mit.edu	37	16	71803538	71803538	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71803538C>T	ENST00000299980.4	-	6	1071	c.630G>A	c.(628-630)gcG>gcA	p.A210A	AP1G1_ENST00000423132.2_Silent_p.A210A|AP1G1_ENST00000433195.2_Silent_p.A233A|AP1G1_ENST00000393512.3_Silent_p.A210A|AP1G1_ENST00000569748.1_Silent_p.A210A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCTGAAATGCGCAAGCATGT	0.383																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(628-630)gcG>gcA		adaptor-related protein complex 1, gamma 1 subunit							90.0	90.0	90.0					16																	71803538		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803538C>T	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.630G>A	16.37:g.71803538C>T						AP1G1_ENST00000433195.2_Silent_p.A233A|AP1G1_ENST00000423132.2_Silent_p.A210A|AP1G1_ENST00000393512.3_Silent_p.A210A|AP1G1_ENST00000569748.1_Silent_p.A210A	p.A210A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			6	1071	-		Ovarian(137;0.125)	210					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.630G>A	CCDS32480.1																																																																																				0.383	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			4	86	0	0	0	1	0	4	86				
HPS5	11234	broad.mit.edu	37	11	18318477	18318477	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18318477C>A	ENST00000349215.3	-	12	1655	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	HPS5_ENST00000438420.2_Missense_Mutation_p.G346C|HPS5_ENST00000531848.1_Missense_Mutation_p.G346C|HPS5_ENST00000396253.3_Missense_Mutation_p.G346C|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	460					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GACTGACTGCCTCTTCTACTA	0.378									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1036-1038)Ggc>Tgc		Hermansky-Pudlak syndrome 5							97.0	90.0	92.0					11																	18318477		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318477C>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1378G>T	11.37:g.18318477C>A	ENSP00000265967:p.Gly460Cys					HPS5_ENST00000438420.2_Missense_Mutation_p.G346C|HPS5_ENST00000531848.1_Missense_Mutation_p.G346C|HPS5_ENST00000349215.3_Missense_Mutation_p.G460C	p.G346C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			11	1498	-			460					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1036G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467714	0.84533	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.65732	-0.17;-0.17;-0.14;1.1	5.71	5.71	0.89125	.	0.048324	0.85682	D	0.000000	T	0.79317	0.4425	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79509	-0.1774	10	0.62326	D	0.03	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	460	Q9UPZ3	HPS5_HUMAN	C	346;346;460;346	ENSP00000379552:G346C;ENSP00000399590:G346C;ENSP00000265967:G460C;ENSP00000431758:G346C	ENSP00000265967:G460C	G	-	1	0	HPS5	18275053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.783000	0.68982	2.701000	0.92244	0.563000	0.77884	GGC		0.378	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		23	46	1	0	2.89027e-11	1	3.10618e-11	23	46				
TYW1B	441250	broad.mit.edu	37	7	72040531	72040531	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72040531G>A	ENST00000435769.2	-	0	2082				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GATGTCTTGTGTCCTTGGGAT	0.408																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							223.0	168.0	185.0					7																	72040531		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040531G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040531G>A										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.408	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		18	36	0	0	0	1	0	18	36				
SLC25A23	79085	broad.mit.edu	37	19	6454479	6454479	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6454479G>T	ENST00000301454.4	-	6	756	c.650C>A	c.(649-651)gCc>gAc	p.A217D	SLC25A23_ENST00000414491.2_Missense_Mutation_p.A34D|SLC25A23_ENST00000334510.5_Missense_Mutation_p.A217D	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	217					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGTCTTTGAGGCATGGACCTG	0.607																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(649-651)gCc>gAc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							70.0	72.0	71.0					19																	6454479		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454479G>T	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.650C>A	19.37:g.6454479G>T	ENSP00000301454:p.Ala217Asp					SLC25A23_ENST00000334510.5_Missense_Mutation_p.A217D|SLC25A23_ENST00000414491.2_Missense_Mutation_p.A34D	p.A217D	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			6	756	-			217					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.650C>A	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512732	0.85389	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.79	5.79	0.91817	Mitochondrial carrier domain (2);	0.160444	0.53938	D	0.000051	T	0.78233	0.4251	L	0.51853	1.615	0.45342	D	0.998338	P;P	0.45986	0.721;0.87	P;P	0.48488	0.579;0.493	T	0.76615	-0.2894	10	0.37606	T	0.19	-28.6334	14.421	0.67183	0.0:0.1478:0.8522:0.0	.	34;217	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	D	264;217;34;217	ENSP00000264088:A264D;ENSP00000301454:A217D;ENSP00000408814:A34D;ENSP00000334537:A217D	ENSP00000264088:A264D	A	-	2	0	SLC25A23	6405479	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	4.397000	0.59690	2.748000	0.94277	0.655000	0.94253	GCC		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		40	39	1	0	8.16277e-20	1	9.0371e-20	40	39				
SLC6A10P	386757	broad.mit.edu	37	16	32890652	32890652	+	RNA	SNP	G	G	A	rs566788610	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:32890652G>A	ENST00000330048.5	-	0	3146					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		AGTACACAACGTTGAAGATGA	0.632													.|||	2	0.000399361	0.0015	0.0	5008	,	,		9953	0.0		0.0	False		,,,				2504	0.0					ENST00000330048.5																			0																																																			0							g.chr16:32890652G>A	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890652G>A								NR_003083.2						0	3146	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.632	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			10	14	0	0	0	1	0	10	14				
BRINP2	57795	broad.mit.edu	37	1	177250177	177250177	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250177C>T	ENST00000361539.4	+	8	2177	c.1865C>T	c.(1864-1866)gCc>gTc	p.A622V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	622					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GATGCAGCTGCCCAGTGCCAA	0.522																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1864-1866)gCc>gTc									72.0	70.0	71.0					1																	177250177		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177250177C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1865C>T	1.37:g.177250177C>T	ENSP00000354481:p.Ala622Val					FAM5B_ENST00000478325.1_3'UTR	p.A622V	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2177	+			622					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1865C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931641	0.18131	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14266	2.52	5.25	5.25	0.73442	.	0.053962	0.64402	D	0.000001	T	0.10035	0.0246	L	0.29908	0.895	0.41362	D	0.98743	P;B	0.35575	0.51;0.005	B;B	0.36567	0.228;0.002	T	0.24225	-1.0166	10	0.22109	T	0.4	-19.3467	8.5984	0.33729	0.0:0.764:0.1547:0.0813	.	517;622	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	375;622	ENSP00000354481:A622V	ENSP00000354481:A622V	A	+	2	0	FAM5B	175516800	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	2.555000	0.45854	2.443000	0.82685	0.313000	0.20887	GCC		0.522	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		12	22	0	0	0	1	0	12	22				
NBEAL2	23218	broad.mit.edu	37	3	47047523	47047523	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47047523C>T	ENST00000450053.3	+	43	7068	c.6889C>T	c.(6889-6891)Ctc>Ttc	p.L2297F	NBEAL2_ENST00000292309.5_Missense_Mutation_p.L2113F|NBEAL2_ENST00000383740.2_Missense_Mutation_p.L576F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2297	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGAGGAGGCCCTCAATGTCTT	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(6889-6891)Ctc>Ttc		neurobeachin-like 2							62.0	75.0	71.0					3																	47047523		2109	4223	6332	SO:0001583	missense	23218						binding	g.chr3:47047523C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6889C>T	3.37:g.47047523C>T	ENSP00000415034:p.Leu2297Phe					NBEAL2_ENST00000292309.5_Missense_Mutation_p.L2113F|NBEAL2_ENST00000383740.2_Missense_Mutation_p.L576F	p.L2297F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	43	7068	+		Acute lymphoblastic leukemia(5;0.0534)	2297			BEACH.		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.6889C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.729522|3.729522	0.69074|0.69074	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37|.	4.78|4.78	3.9|3.9	0.45041|0.45041	BEACH domain (4);|.	0.129477|.	0.53938|.	D|.	0.000056|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.48935|0.48935	1.535|1.535	0.58432|0.58432	D|D	0.999995|0.999995	P;P|.	0.44478|.	0.836;0.77|.	P;B|.	0.47206|.	0.541;0.442|.	T|T	0.57112|0.57112	-0.7867|-0.7867	10|5	0.62326|.	D|.	0.03|.	.|.	13.0997|13.0997	0.59212|0.59212	0.1618:0.8382:0.0:0.0|0.1618:0.8382:0.0:0.0	.|.	2113;2297|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	F|L	2113;576;2297;240;124|665	ENSP00000292309:L2113F;ENSP00000373246:L576F;ENSP00000415034:L2297F;ENSP00000415063:L124F|.	ENSP00000292309:L2113F|.	L|P	+|+	1|2	0|0	NBEAL2|NBEAL2	47022527|47022527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.862000|5.862000	0.69560|0.69560	1.216000|1.216000	0.43427|0.43427	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		22	47	0	0	0	1	0	22	47				
NFRKB	4798	broad.mit.edu	37	11	129744711	129744711	+	Missense_Mutation	SNP	C	C	T	rs148845897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129744711C>T	ENST00000446488.3	-	18	2058	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R652H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R677H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R652H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	652					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCCGGTCACGATGCAGGTA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20587	0.0		0.0	False		,,,				2504	0.0					ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1954-1956)cGt>cAt		nuclear factor related to kappaB binding protein		C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	216.0	183.0	194.0		1955,2030	5.4	1.0	11	dbSNP_134	194	0,8594		0,0,4297	no	missense,missense	NFRKB	NM_001143835.1,NM_006165.3	29,29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	652/1300,677/1325	129744711	1,12995	2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129744711C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1955G>A	11.37:g.129744711C>T	ENSP00000400476:p.Arg652His					NFRKB_ENST00000524794.1_Missense_Mutation_p.R677H|NFRKB_ENST00000524746.1_Missense_Mutation_p.R652H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R652H	p.R652H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	18	2058	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	652					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1955G>A	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641133	0.87859	2.27E-4	0.0	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	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	0.87578	0.996;0.996;0.998;0.998	T	0.82275	-0.0538	9	0.87932	D	0	-7.3116	19.1504	0.93485	0.0:1.0:0.0:0.0	.	662;652;652;677	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	652;652;677;652;662	.	ENSP00000303800:R652H	R	-	2	0	NFRKB	129249921	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.452000	0.80683	2.518000	0.84900	0.655000	0.94253	CGT		0.478	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		28	56	0	0	0	1	0	28	56				
USP9Y	8287	broad.mit.edu	37	Y	14924838	14924838	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrY:14924838C>T	ENST00000338981.3	+	31	5405	c.4460C>T	c.(4459-4461)gCt>gTt	p.A1487V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1487					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACTACCAGCTGAGCAGGCT	0.403																																						ENST00000338981.3																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(4459-4461)gCt>gTt		ubiquitin specific peptidase 9, Y-linked							87.0	77.0	79.0					Y																	14924838		596	1951	2547	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14924838C>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4460C>T	Y.37:g.14924838C>T	ENSP00000342812:p.Ala1487Val					USP9Y_ENST00000426564.2_3'UTR	p.A1487V	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN			31	5405	+			1487					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4460C>T	CCDS14781.1																																																																																				0.403	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		34	10	0	0	0	1	0	34	10				
TACR2	6865	broad.mit.edu	37	10	71174882	71174882	+	Missense_Mutation	SNP	C	C	T	rs574436938		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71174882C>T	ENST00000373306.4	-	2	949	c.406G>A	c.(406-408)Gtc>Atc	p.V136I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	136					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAGGGGTGGACGATGGCCATG	0.642																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(406-408)Gtc>Atc		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						90.0	66.0	74.0					10																	71174882		2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71174882C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.406G>A	10.37:g.71174882C>T	ENSP00000362403:p.Val136Ile						p.V136I	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			2	949	-			136					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.406G>A	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859002	0.17178	.	.	ENSG00000075073	ENST00000373306	T	0.19806	2.12	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.207686	0.39475	N	0.001352	T	0.05593	0.0147	N	0.01789	-0.72	0.42720	D	0.993677	B	0.30584	0.286	B	0.32533	0.147	T	0.38714	-0.9648	10	0.02654	T	1	.	3.866	0.09016	0.0:0.6569:0.0:0.343	.	136	P21452	NK2R_HUMAN	I	136	ENSP00000362403:V136I	ENSP00000362403:V136I	V	-	1	0	TACR2	70844888	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.726000	0.61986	2.612000	0.88384	0.561000	0.74099	GTC		0.642	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			9	20	0	0	0	1	0	9	20				
OR4N4	283694	broad.mit.edu	37	15	22382718	22382718	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22382718G>T	ENST00000328795.4	+	1	337	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCAGGATGTTGGTGGACTTCC	0.512																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(244-246)ttG>ttT		olfactory receptor, family 4, subfamily N, member 4							122.0	116.0	118.0					15																	22382718		2203	4300	6503	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382718G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.246G>T	15.37:g.22382718G>T	ENSP00000332500:p.Leu82Phe					RP11-69H14.6_ENST00000558896.1_RNA	p.L82F	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	337	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	82					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.246G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.639207	0.29157	.	.	ENSG00000183706	ENST00000328795	T	0.00428	7.44	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001761	T	0.01189	0.0039	M	0.84326	2.69	0.35038	D	0.759431	D	0.89917	1.0	D	0.97110	1.0	T	0.56232	-0.8013	10	0.87932	D	0	-6.9763	12.2756	0.54733	0.0:0.0:1.0:0.0	.	82	Q8N0Y3	OR4N4_HUMAN	F	82	ENSP00000332500:L82F	ENSP00000332500:L82F	L	+	3	2	OR4N4	19884082	0.001000	0.12720	0.998000	0.56505	0.091000	0.18340	0.010000	0.13242	1.793000	0.52555	0.184000	0.17185	TTG		0.512	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			35	125	1	0	3.54909e-21	1	3.94031e-21	35	125				
B4GALT4	8702	broad.mit.edu	37	3	118931506	118931506	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:118931506A>G	ENST00000483209.1	-	8	1566	c.925T>C	c.(925-927)Tca>Cca	p.S309P	B4GALT4_ENST00000359213.3_Missense_Mutation_p.S309P|B4GALT4_ENST00000393765.2_Missense_Mutation_p.S309P|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	309					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGACTCGTGACACTTGGTGT	0.358																																						ENST00000483209.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(925-927)Tca>Cca		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						97.0	92.0	94.0					3																	118931506		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118931506A>G	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.925T>C	3.37:g.118931506A>G	ENSP00000420161:p.Ser309Pro					B4GALT4_ENST00000393765.2_Missense_Mutation_p.S309P|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.S309P	p.S309P			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	8	1566	-			309					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.925T>C	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273820	0.23221	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.34667	1.35;1.35;1.35	5.38	1.67	0.24075	.	0.340190	0.31636	N	0.007309	T	0.42494	0.1205	M	0.85373	2.75	0.40111	D	0.976486	B	0.14012	0.009	B	0.15052	0.012	T	0.45585	-0.9251	10	0.54805	T	0.06	-2.0368	12.76	0.57359	0.5398:0.4602:0.0:0.0	.	309	O60513	B4GT4_HUMAN	P	309	ENSP00000420161:S309P;ENSP00000352144:S309P;ENSP00000377360:S309P	ENSP00000352144:S309P	S	-	1	0	B4GALT4	120414196	0.956000	0.32656	0.948000	0.38648	0.774000	0.43823	1.952000	0.40343	0.129000	0.18514	-0.313000	0.08912	TCA		0.358	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		10	16	0	0	0	1	0	10	16				
MRPL44	65080	broad.mit.edu	37	2	224828620	224828620	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224828620G>T	ENST00000258383.3	+	3	865	c.796G>T	c.(796-798)Gct>Tct	p.A266S	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	266	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGCACCACAGCTTTGCCTTT	0.378																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(796-798)Gct>Tct		mitochondrial ribosomal protein L44							105.0	104.0	105.0					2																	224828620		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224828620G>T	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.796G>T	2.37:g.224828620G>T	ENSP00000258383:p.Ala266Ser						p.A266S	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	3	865	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	266			DRBM.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.796G>T	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365951	0.82463	.	.	ENSG00000135900	ENST00000258383	T	0.45276	0.9	5.7	4.81	0.61882	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.111095	0.64402	D	0.000011	T	0.27765	0.0683	L	0.27053	0.805	0.36408	D	0.863525	P	0.47106	0.89	B	0.41764	0.366	T	0.11991	-1.0565	10	0.07325	T	0.83	-13.5713	12.9506	0.58399	0.081:0.0:0.919:0.0	.	266	Q9H9J2	RM44_HUMAN	S	266	ENSP00000258383:A266S	ENSP00000258383:A266S	A	+	1	0	MRPL44	224536864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.174000	0.94824	2.680000	0.91292	0.591000	0.81541	GCT		0.378	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		19	32	1	0	5.26018e-13	1	5.704e-13	19	32				
HIF1A	3091	broad.mit.edu	37	14	62193429	62193429	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:62193429G>A	ENST00000337138.4	+	5	728	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	HIF1A_ENST00000557538.1_Missense_Mutation_p.V96M|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.V179M|HIF1A_ENST00000394997.1_Missense_Mutation_p.V156M|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000323441.6_Missense_Mutation_p.V155M	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	155	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ATTAGGCCTTGTGAAAAAGGG	0.343																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(466-468)Gtg>Atg		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							72.0	69.0	70.0					14																	62193429		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62193429G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.463G>A	14.37:g.62193429G>A	ENSP00000338018:p.Val155Met					HIF1A_ENST00000323441.6_Missense_Mutation_p.V155M|HIF1A_ENST00000539097.1_Missense_Mutation_p.V179M|HIF1A_ENST00000337138.4_Missense_Mutation_p.V155M|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_Missense_Mutation_p.V96M|HIF1A-AS2_ENST00000554254.1_lincRNA	p.V156M			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	5	731	+			155			Interaction with TSGA10 (By similarity).|PAS 1.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.466G>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169320	0.78339	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.92	5.92	0.95590	PAS (1);	0.452321	0.25642	N	0.029263	T	0.26702	0.0653	L	0.52905	1.665	0.50313	D	0.999865	P;P;P	0.36222	0.544;0.544;0.544	B;B;B	0.40677	0.337;0.337;0.337	T	0.00715	-1.1597	10	0.52906	T	0.07	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	156;155;155	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	M	96;155;156;155;96;179	ENSP00000338018:V155M;ENSP00000378446:V156M;ENSP00000323326:V155M;ENSP00000451696:V96M;ENSP00000437955:V179M	ENSP00000323326:V155M	V	+	1	0	HIF1A	61263182	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.078000	0.57606	2.810000	0.96702	0.650000	0.86243	GTG		0.343	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		16	24	0	0	0	1	0	16	24				
KDR	3791	broad.mit.edu	37	4	55987346	55987346	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55987346C>T	ENST00000263923.4	-	2	374	c.79G>A	c.(79-81)Gtt>Att	p.V27I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	27					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGAGAAACACTAGGCAAA	0.348			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(79-81)Gtt>Att		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						110.0	114.0	113.0					4																	55987346		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987346C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.79G>A	4.37:g.55987346C>T	ENSP00000263923:p.Val27Ile	TSP Lung(20;0.16)					p.V27I	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	374	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		27					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.79G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	3.848	-0.032380	0.07543	.	.	ENSG00000128052	ENST00000263923	T	0.25579	1.79	5.83	2.09	0.27110	.	0.548927	0.20021	N	0.100920	T	0.12817	0.0311	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.28808	-1.0032	10	0.22706	T	0.39	.	6.4066	0.21668	0.0:0.5627:0.2804:0.1569	.	27;27	P35968-2;P35968	.;VGFR2_HUMAN	I	27	ENSP00000263923:V27I	ENSP00000263923:V27I	V	-	1	0	KDR	55682103	0.003000	0.15002	0.024000	0.17045	0.862000	0.49288	-0.366000	0.07563	0.072000	0.16694	0.650000	0.86243	GTT		0.348	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			12	35	0	0	0	1	0	12	35				
MLIP	90523	broad.mit.edu	37	6	54025229	54025229	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:54025229A>G	ENST00000274897.5	+	5	862	c.749A>G	c.(748-750)gAg>gGg	p.E250G	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000514921.1_Splice_Site_p.E774G|MLIP_ENST00000370877.2_Splice_Site_p.E174G|MLIP_ENST00000502396.1_Splice_Site_p.E785G	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	250						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCACCAGTGGAGGTAATAACT	0.413																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.e6+1		muscular LMNA-interacting protein							84.0	79.0	81.0					6																	54025229		2203	4300	6503	SO:0001630	splice_region_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54025229A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.750+1A>G	6.37:g.54025229A>G						MLIP_ENST00000502396.1_Splice_Site_p.E785_splice|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Splice_Site_p.E250_splice|MLIP_ENST00000370877.2_Splice_Site_p.E174_splice|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron	p.E774_splice			Q5VWP3	MLIP_HUMAN			6	2434	+			250					B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	c.2322_splice	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873642	0.72180	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000447836;ENST00000502396;ENST00000370878;ENST00000514433	T;T;T;T;T;T	0.41400	1.0;1.0;1.79;1.54;1.0;1.54	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.56347	-0.7994	10	0.54805	T	0.06	-15.3115	13.5249	0.61589	1.0:0.0:0.0:0.0	.	785;250;774	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	G	250;774;174;132;785;132;227	ENSP00000274897:E250G;ENSP00000425142:E774G;ENSP00000359914:E174G;ENSP00000411917:E132G;ENSP00000426290:E785G;ENSP00000421444:E227G	ENSP00000274897:E250G	E	+	2	0	MLIP	54133188	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.924000	0.70054	2.091000	0.63221	0.260000	0.18958	GAG		0.413	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Missense_Mutation	19	20	0	0	0	1	0	19	20				
POM121L12	285877	broad.mit.edu	37	7	53103572	53103572	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:53103572C>T	ENST00000408890.4	+	1	224	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	70								p.R70S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAGTGGGGGCGCCCGGTGCC	0.706																																						ENST00000408890.4																			1	Substitution - Missense(1)	p.R70S(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(208-210)Cgc>Tgc		POM121 transmembrane nucleoporin-like 12							23.0	27.0	26.0					7																	53103572		1915	4134	6049	SO:0001583	missense	285877							g.chr7:53103572C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.208C>T	7.37:g.53103572C>T	ENSP00000386133:p.Arg70Cys						p.R70C	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	224	+			70					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.208C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	c	10.72	1.428405	0.25726	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	1.53	-3.06	0.05379	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.21177	-1.0253	9	0.72032	D	0.01	.	0.6951	0.00897	0.1694:0.3099:0.1684:0.3522	.	70	Q8N7R1	P1L12_HUMAN	C	70	ENSP00000386133:R70C	ENSP00000386133:R70C	R	+	1	0	POM121L12	53071066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.303000	0.08210	-1.909000	0.01085	-1.924000	0.00514	CGC		0.706	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		13	21	0	0	0	1	0	13	21				
ZNF775	285971	broad.mit.edu	37	7	150094021	150094021	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150094021C>T	ENST00000329630.5	+	3	559	c.452C>T	c.(451-453)gCg>gTg	p.A151V		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGAACCTGGCGCGCCACCAG	0.672																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(451-453)gCg>gTg		zinc finger protein 775							15.0	20.0	18.0					7																	150094021		2186	4292	6478	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094021C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.452C>T	7.37:g.150094021C>T	ENSP00000330838:p.Ala151Val						p.A151V	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	559	+	Ovarian(565;0.183)|Melanoma(164;0.226)		151					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.452C>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147197	0.09134	.	.	ENSG00000196456	ENST00000329630;ENST00000490973	T;T	0.16897	2.31;2.31	4.73	0.54	0.17163	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11131	0.1	0.20196	N	0.999926	B	0.11235	0.004	B	0.15870	0.014	T	0.41770	-0.9490	8	.	.	.	.	6.5248	0.22295	0.0:0.4209:0.0:0.5791	.	151	Q96BV0	ZN775_HUMAN	V	151	ENSP00000330838:A151V;ENSP00000417483:A151V	.	A	+	2	0	ZNF775	149724954	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	-0.322000	0.08007	0.221000	0.20879	0.555000	0.69702	GCG		0.672	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		7	10	0	0	0	1	0	7	10				
ACRV1	56	broad.mit.edu	37	11	125547966	125547966	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125547966A>G	ENST00000533904.1	-	2	621	c.279T>C	c.(277-279)caT>caC	p.H93H	ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.H93H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000425431.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	93	3 X 5 AA repeats of S-E-H-[GA]-S.|4 X 4 AA repeats of S-G-E-H.				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGCATGCTCACTCT	0.542																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(277-279)caT>caC		acrosomal vesicle protein 1							96.0	82.0	87.0					11																	125547966		2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547966A>G	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.279T>C	11.37:g.125547966A>G						ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000257382.2_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000433875.1_Silent_p.H93H|ACRV1_ENST00000425431.1_Intron	p.H93H			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	621	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	93			3 X 5 AA repeats of S-E-H-[GA]-S.|4 X 4 AA repeats of S-G-E-H.		Q53FF4	Silent	SNP	ENST00000533904.1	37	c.279T>C	CCDS8460.1																																																																																				0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		4	63	0	0	0	1	0	4	63				
OBSCN	84033	broad.mit.edu	37	1	228547486	228547486	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228547486C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.P3417L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P6298L|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGAAGCCCGTGGTGCCC	0.706																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18892-18894)cCc>cTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	15.0	14.0					1																	228547486		2026	4182	6208	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547486C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2791C>T	1.37:g.228547486C>T						OBSCN_ENST00000366709.4_Missense_Mutation_p.P3417L|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron	p.P6298L			Q5VST9	OBSCN_HUMAN			81	18967	+		Prostate(94;0.0405)	7121					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18893C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066233	0.20067	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.54279	0.58;0.72	4.56	2.58	0.30949	.	.	.	.	.	T	0.47544	0.1451	L	0.57536	1.79	0.23030	N	0.998402	B	0.25904	0.137	B	0.21917	0.037	T	0.37174	-0.9717	9	0.42905	T	0.14	.	10.594	0.45327	0.1679:0.6981:0.134:0.0	.	6298	Q5VST9-3	.	L	6298;3417	ENSP00000284548:P6298L;ENSP00000355670:P3417L	ENSP00000284548:P6298L	P	+	2	0	OBSCN	226614109	0.274000	0.24191	0.031000	0.17742	0.076000	0.17211	1.972000	0.40540	0.473000	0.27368	-0.314000	0.08810	CCC		0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	14	0	0	0	1	0	6	14				
ZNF382	84911	broad.mit.edu	37	19	37118007	37118007	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37118007C>T	ENST00000292928.2	+	5	1321	c.1208C>T	c.(1207-1209)aCa>aTa	p.T403I	ZNF382_ENST00000423582.1_Missense_Mutation_p.T354I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.T402I|ZNF382_ENST00000439428.1_Missense_Mutation_p.T402I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	403	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCACACAGGAGAGAAA	0.453																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1204-1206)aCa>aTa		zinc finger protein 382							94.0	92.0	93.0					19																	37118007		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118007C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1208C>T	19.37:g.37118007C>T	ENSP00000292928:p.Thr403Ile					ZNF382_ENST00000439428.1_Missense_Mutation_p.T402I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T403I|ZNF382_ENST00000423582.1_Missense_Mutation_p.T354I	p.T402I			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2700	+	Esophageal squamous(110;0.198)		403			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1205C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935503	0.52866	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.27	4.27	0.50696	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000428	T	0.38188	0.1031	M	0.81802	2.56	0.31573	N	0.656077	P;P;P	0.44986	0.815;0.815;0.847	B;B;P	0.45195	0.342;0.342;0.473	T	0.56798	-0.7919	10	0.72032	D	0.01	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	402;402;403	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	354;403;402;402	ENSP00000389722:T354I;ENSP00000292928:T403I;ENSP00000407593:T402I;ENSP00000410113:T402I	ENSP00000292928:T403I	T	+	2	0	ZNF382	41809847	0.973000	0.33851	1.000000	0.80357	0.959000	0.62525	2.391000	0.44424	2.375000	0.81037	0.591000	0.81541	ACA		0.453	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		32	51	0	0	0	1	0	32	51				
FOXI1	2299	broad.mit.edu	37	5	169533417	169533417	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169533417C>T	ENST00000306268.6	+	1	517	c.456C>T	c.(454-456)taC>taT	p.Y152Y	FOXI1_ENST00000449804.2_Silent_p.Y152Y			Q12951	FOXI1_HUMAN	forkhead box I1	152					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACCAGTACGTGGCCGACA	0.602									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(454-456)taC>taT		forkhead box I1							50.0	47.0	48.0					5																	169533417		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533417C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.456C>T	5.37:g.169533417C>T						FOXI1_ENST00000306268.6_Silent_p.Y152Y	p.Y152Y	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	501	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	152					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.456C>T	CCDS4372.1																																																																																				0.602	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	14	0	0	0	1	0	6	14				
MCM3AP	8888	broad.mit.edu	37	21	47674369	47674369	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47674369A>G	ENST00000397708.1	-	20	4327	c.4073T>C	c.(4072-4074)gTg>gCg	p.V1358A	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1358A			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1358					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTCCAAAACACATGCTCCTG	0.597																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4072-4074)gTg>gCg		minichromosome maintenance complex component 3 associated protein							93.0	79.0	83.0					21																	47674369		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47674369A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4073T>C	21.37:g.47674369A>G	ENSP00000380820:p.Val1358Ala					MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1358A|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.V1358A			O60318	MCM3A_HUMAN			20	4327	-	Breast(49;0.112)		1358					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4073T>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	9.642	1.139149	0.21205	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.48836	0.8;0.8	5.22	1.31	0.21738	.	0.537315	0.20664	N	0.087980	T	0.39172	0.1068	M	0.65975	2.015	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.29882	-0.9997	10	0.34782	T	0.22	-1.6106	4.2229	0.10567	0.6768:0.1299:0.0691:0.1243	.	1358	O60318	MCM3A_HUMAN	A	1358	ENSP00000380820:V1358A;ENSP00000291688:V1358A	ENSP00000291688:V1358A	V	-	2	0	MCM3AP	46498797	0.147000	0.22687	0.020000	0.16555	0.504000	0.33889	3.523000	0.53488	-0.021000	0.14009	0.533000	0.62120	GTG		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		12	4	0	0	0	1	0	12	4				
SCN3A	6328	broad.mit.edu	37	2	165947857	165947857	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165947857T>C	ENST00000360093.3	-	28	5299		c.e28-2		SCN3A_ENST00000540861.1_Splice_Site|SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Splice_Site	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAACATACCTATGGAAAACA	0.378																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.e28-2		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						59.0	61.0	61.0					2																	165947857		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947857T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4808-2A>G	2.37:g.165947857T>C						SCN3A_ENST00000409101.3_Splice_Site|SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000540861.1_Splice_Site		NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5299	-								Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Splice_Site	SNP	ENST00000360093.3	37			.	.	.	.	.	.	.	.	.	.	T	15.67	2.901273	0.52227	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3A	165656103	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	7.982000	0.88131	2.330000	0.79161	0.477000	0.44152	.		0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Intron	20	30	0	0	0	1	0	20	30				
MAP4K1	11184	broad.mit.edu	37	19	39096286	39096286	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39096286C>T	ENST00000591517.1	-	18	1313	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	MAP4K1_ENST00000396857.2_Missense_Mutation_p.A429T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A91T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A425T|MAP4K1_ENST00000589002.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	429					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCACTGGCACACCGGACC	0.662																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1285-1287)Gcc>Acc		mitogen-activated protein kinase kinase kinase kinase 1							9.0	10.0	10.0					19																	39096286		1914	4090	6004	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39096286C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1285G>A	19.37:g.39096286C>T	ENSP00000465039:p.Ala429Thr					MAP4K1_ENST00000589130.1_Missense_Mutation_p.A425T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A91T|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A429T	p.A429T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	1313	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		429						Missense_Mutation	SNP	ENST00000591517.1	37	c.1285G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797356	0.50208	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.24538	1.85;2.87	5.21	2.78	0.32641	.	1.080200	0.07164	N	0.851206	T	0.18257	0.0438	N	0.24115	0.695	0.26205	N	0.979383	D;P;P	0.53151	0.958;0.775;0.666	B;B;B	0.41894	0.369;0.225;0.112	T	0.07121	-1.0789	10	0.14252	T	0.57	.	11.5572	0.50755	0.3917:0.6083:0.0:0.0	.	91;429;429	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	T	429;429;91	ENSP00000380066:A429T;ENSP00000396383:A91T	ENSP00000221409:A429T	A	-	1	0	MAP4K1	43788126	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.164000	0.16542	1.133000	0.42147	0.462000	0.41574	GCC		0.662	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		12	6	0	0	0	1	0	12	6				
SLC22A5	6584	broad.mit.edu	37	5	131729951	131729951	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131729951G>A	ENST00000245407.3	+	10	1882	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N	SLC22A5_ENST00000435065.2_Missense_Mutation_p.S578N	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	554					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	ATCCTTAAAAGCACAGCCTTC	0.418																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1660-1662)aGc>aAc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						120.0	113.0	116.0					5																	131729951		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729951G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1661G>A	5.37:g.131729951G>A	ENSP00000245407:p.Ser554Asn					SLC22A5_ENST00000435065.2_Missense_Mutation_p.S578N	p.S554N	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1882	+		all_cancers(142;0.0751)|Breast(839;0.198)	554					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1661G>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347357	0.24426	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.74315	-0.79;-0.83	5.28	2.33	0.28932	.	0.585602	0.18979	N	0.125935	T	0.57286	0.2043	N	0.24115	0.695	0.29659	N	0.84334	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.51371	-0.8714	10	0.33141	T	0.24	.	9.2249	0.37400	0.0834:0.2917:0.6248:0.0	.	578;554	A2Q0V1;O76082	.;S22A5_HUMAN	N	554;578	ENSP00000245407:S554N;ENSP00000402760:S578N	ENSP00000245407:S554N	S	+	2	0	SLC22A5	131757850	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.233000	0.32648	0.764000	0.33197	0.655000	0.94253	AGC		0.418	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		35	33	0	0	0	1	0	35	33				
CEP350	9857	broad.mit.edu	37	1	180003188	180003188	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180003188C>T	ENST00000367607.3	+	16	4335	c.3917C>T	c.(3916-3918)aCa>aTa	p.T1306I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1306					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCAGCAGAACAACGACAGAG	0.388																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3916-3918)aCa>aTa		centrosomal protein 350kDa							77.0	72.0	74.0					1																	180003188		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180003188C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3917C>T	1.37:g.180003188C>T	ENSP00000356579:p.Thr1306Ile						p.T1306I	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			16	4335	+			1306					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3917C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918671	0.17982	.	.	ENSG00000135837	ENST00000367607	T	0.56444	0.46	5.77	2.8	0.32819	.	0.473148	0.17912	N	0.157805	T	0.34077	0.0885	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.17899	-1.0354	9	.	.	.	.	6.7685	0.23581	0.1463:0.7041:0.0:0.1496	.	1306;1306	E7EU22;Q5VT06	.;CE350_HUMAN	I	1306	ENSP00000356579:T1306I	.	T	+	2	0	CEP350	178269811	0.013000	0.17824	0.000000	0.03702	0.033000	0.12548	2.207000	0.42788	0.318000	0.23185	0.514000	0.50259	ACA		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	12	0	0	0	1	0	4	12				
KLF15	28999	broad.mit.edu	37	3	126071361	126071361	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126071361C>T	ENST00000296233.3	-	2	635	c.405G>A	c.(403-405)cgG>cgA	p.R135R	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	135					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCTGGAAGGGCCGTGGGACGT	0.612																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(403-405)cgG>cgA		Kruppel-like factor 15							38.0	40.0	40.0					3																	126071361		2203	4300	6503	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071361C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.405G>A	3.37:g.126071361C>T							p.R135R	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	635	-			135						Silent	SNP	ENST00000296233.3	37	c.405G>A	CCDS3036.1																																																																																				0.612	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		4	21	0	0	0	1	0	4	21				
CELSR1	9620	broad.mit.edu	37	22	46929866	46929866	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46929866G>A	ENST00000262738.3	-	1	3201	c.3202C>T	c.(3202-3204)Cgg>Tgg	p.R1068W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1068W|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1068	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACATACTCCCGCCGGACCTCA	0.612																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3202-3204)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 1							73.0	71.0	72.0					22																	46929866		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929866G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3202C>T	22.37:g.46929866G>A	ENSP00000262738:p.Arg1068Trp					CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.R1068W	p.R1068W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3201	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1068			Cadherin 8.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3202C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355782	0.61293	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.61627	0.09;0.09	4.63	3.6	0.41247	Cadherin (4);Cadherin-like (1);	0.501207	0.15641	U	0.251899	T	0.75280	0.3828	M	0.86651	2.83	0.27691	N	0.946105	D	0.64830	0.994	P	0.61658	0.892	T	0.68565	-0.5375	10	0.72032	D	0.01	.	11.3637	0.49660	0.0:0.0:0.3912:0.6088	.	1068	Q9NYQ6	CELR1_HUMAN	W	1068	ENSP00000262738:R1068W;ENSP00000379293:R1068W	ENSP00000262738:R1068W	R	-	1	2	CELSR1	45308530	0.009000	0.17119	0.954000	0.39281	0.916000	0.54674	1.391000	0.34475	0.842000	0.35045	0.462000	0.41574	CGG		0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		15	26	0	0	0	1	0	15	26				
ANKRD6	22881	broad.mit.edu	37	6	90337305	90337305	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90337305C>T	ENST00000522441.1	+	14	2016	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ANKRD6_ENST00000339746.4_Missense_Mutation_p.R459C|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Missense_Mutation_p.R424C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R459C|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R400C	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	459					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CTCCTAGATGCGTGTTTTGGA	0.552																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(1270-1272)Cgt>Tgt		ankyrin repeat domain 6							73.0	77.0	76.0					6																	90337305		2050	4195	6245	SO:0001583	missense	22881						protein binding	g.chr6:90337305C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1375C>T	6.37:g.90337305C>T	ENSP00000430985:p.Arg459Cys					LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R400C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R459C|ANKRD6_ENST00000522441.1_Missense_Mutation_p.R459C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R459C	p.R424C	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	13	1619	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	459					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.1270C>T	CCDS56441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.945124|1.945124	0.34283|0.34283	.|.	.|.	ENSG00000135299|ENSG00000135299	ENST00000492158|ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793;ENST00000521004	.|T;T;T;T;T	.|0.70164	.|1.04;1.05;1.05;1.05;-0.46	5.26|5.26	3.41|3.41	0.39046|0.39046	.|.	.|0.125962	.|0.33382	.|N	.|0.004965	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.26577	.|0.017;0.06;0.153;0.076	.|B;B;B;B	.|0.21151	.|0.002;0.011;0.033;0.026	T|T	0.24621|0.24621	-1.0155|-1.0155	5|10	.|0.46703	.|T	.|0.11	-4.6761|-4.6761	9.2564|9.2564	0.37586|0.37586	0.1454:0.7773:0.0:0.0773|0.1454:0.7773:0.0:0.0773	.|.	.|400;459;424;459	.|B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.|.;ANKR6_HUMAN;.;.	V|C	32|424;459;459;459;200;400;14	.|ENSP00000358416:R424C;ENSP00000345767:R459C;ENSP00000396771:R459C;ENSP00000430985:R459C;ENSP00000429782:R400C	.|ENSP00000345767:R459C	A|R	+|+	2|1	0|0	ANKRD6|ANKRD6	90394026|90394026	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.566000|0.566000	0.35808|0.35808	1.702000|1.702000	0.37836|0.37836	0.539000|0.539000	0.28788|0.28788	0.563000|0.563000	0.77884|0.77884	GCG|CGT		0.552	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			13	17	0	0	0	1	0	13	17				
GPR62	118442	broad.mit.edu	37	3	51990266	51990266	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51990266C>T	ENST00000322241.4	+	1	937	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTGGTGGCGCGTCGCGCTGC	0.756																																						ENST00000322241.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(598-600)Cgt>Tgt		G protein-coupled receptor 62							5.0	6.0	6.0					3																	51990266		1206	2708	3914	SO:0001583	missense	118442					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:51990266C>T	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.598C>T	3.37:g.51990266C>T	ENSP00000319250:p.Arg200Cys						p.R200C	NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	937	+			200					F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	c.598C>T	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684540	0.68157	.	.	ENSG00000180929	ENST00000322241	T	0.42900	0.96	4.58	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.336995	0.15200	U	0.275046	T	0.56514	0.1990	L	0.54323	1.7	0.39089	D	0.961057	D	0.89917	1.0	D	0.70227	0.968	T	0.60657	-0.7220	10	0.87932	D	0	-13.3578	10.7681	0.46305	0.2332:0.7668:0.0:0.0	.	200	Q9BZJ7	GPR62_HUMAN	C	200	ENSP00000319250:R200C	ENSP00000319250:R200C	R	+	1	0	GPR62	51965306	1.000000	0.71417	0.995000	0.50966	0.699000	0.40488	3.450000	0.52957	2.063000	0.61619	0.455000	0.32223	CGT		0.756	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			4	3	0	0	0	1	0	4	3				
SPHK1	8877	broad.mit.edu	37	17	74382513	74382513	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74382513G>A	ENST00000545180.1	+	7	1107	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SPHK1_ENST00000323374.4_Missense_Mutation_p.A186T|SPHK1_ENST00000392496.3_Missense_Mutation_p.A100T|SPHK1_ENST00000590959.1_Missense_Mutation_p.A114T|SPHK1_ENST00000592299.1_Missense_Mutation_p.A100T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	100	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CTGGGAGACCGCCATCCAGAA	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(298-300)Gcc>Acc		sphingosine kinase 1							50.0	52.0	51.0					17																	74382513		2203	4300	6503	SO:0001583	missense	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74382513G>A	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.298G>A	17.37:g.74382513G>A	ENSP00000440970:p.Ala100Thr		OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	SPHK1_ENST00000323374.4_Missense_Mutation_p.A186T|SPHK1_ENST00000590959.1_Missense_Mutation_p.A114T|SPHK1_ENST00000592299.1_Missense_Mutation_p.A100T|SPHK1_ENST00000392496.3_Missense_Mutation_p.A100T	p.A100T			Q9NYA1	SPHK1_HUMAN			7	1107	+			100			DAGKc.		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	c.298G>A	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374898	0.95923	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.32988	1.53;1.43;1.53	5.29	5.29	0.74685	Diacylglycerol kinase, catalytic domain (3);	0.176656	0.49916	D	0.000136	T	0.62551	0.2437	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.982;0.998;0.999	P;D;D	0.71184	0.796;0.972;0.971	T	0.69712	-0.5071	10	0.72032	D	0.01	-18.125	18.9407	0.92604	0.0:0.0:1.0:0.0	.	186;114;100	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	T	100;186;100;99	ENSP00000440970:A100T;ENSP00000313681:A186T;ENSP00000376285:A100T	ENSP00000313681:A186T	A	+	1	0	SPHK1	71894108	1.000000	0.71417	0.982000	0.44146	0.412000	0.31113	7.600000	0.82769	2.460000	0.83146	0.563000	0.77884	GCC		0.657	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		18	22	0	0	0	1	0	18	22				
ERC2	26059	broad.mit.edu	37	3	55922477	55922477	+	Missense_Mutation	SNP	G	G	A	rs138285241	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55922477G>A	ENST00000288221.6	-	14	2759	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	835						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.A835V(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGCCAAGTGCGCTTCTTTTTC	0.532													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17442	0.0		0.001	False		,,,				2504	0.0					ENST00000288221.6																			1	Substitution - Missense(1)	p.A835V(1)	large_intestine(1)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2503-2505)gCg>gTg		ELKS/RAB6-interacting/CAST family member 2							191.0	197.0	195.0					3																	55922477		2045	4196	6241	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55922477G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2504C>T	3.37:g.55922477G>A	ENSP00000288221:p.Ala835Val						p.A835V	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	14	2759	-			835					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2504C>T	CCDS46851.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.37|13.37	2.216844|2.216844	0.39201|0.39201	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.46451|.	0.87|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.349677|.	0.30602|.	N|.	0.009276|.	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.40543|0.40543	1.245|1.245	0.32084|0.32084	N|N	0.592769|0.592769	B|.	0.26775|.	0.159|.	B|.	0.16289|.	0.015|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|5	0.39692|.	T|.	0.17|.	-12.7139|-12.7139	13.2575|13.2575	0.60087|0.60087	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	835|.	O15083|.	ERC2_HUMAN|.	V|C	835|482	ENSP00000288221:A835V|.	ENSP00000288221:A835V|.	A|R	-|-	2|1	0|0	ERC2|ERC2	55897517|55897517	0.998000|0.998000	0.40836|0.40836	0.974000|0.974000	0.42286|0.42286	0.928000|0.928000	0.56348|0.56348	2.757000|2.757000	0.47557|0.47557	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.532	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		70	70	0	0	0	1	0	70	70				
CNKSR1	10256	broad.mit.edu	37	1	26510233	26510233	+	Missense_Mutation	SNP	G	G	A	rs139571283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26510233G>A	ENST00000374253.5	+	9	827	c.788G>A	c.(787-789)cGt>cAt	p.R263H	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R256H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	263	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGGCCCCGTAAGAACATG	0.602																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000361530.6																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(766-768)cGt>cAt		connector enhancer of kinase suppressor of Ras 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	82.0	82.0		767	-0.1	0.6	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	CNKSR1	NM_006314.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	256/714	26510233	1,13005	2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510233G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.788G>A	1.37:g.26510233G>A	ENSP00000363371:p.Arg263His					CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.R263H	p.R256H			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	9	912	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	263			PDZ.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	G	5.242	0.230032	0.09969	2.27E-4	0.0	ENSG00000142675	ENST00000361530;ENST00000374253	T;T	0.14516	2.5;2.51	4.87	-0.0881	0.13674	PDZ/DHR/GLGF (1);	0.421211	0.23854	N	0.043914	T	0.03390	0.0098	N	0.01352	-0.895	0.38244	D	0.941408	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40905	-0.9538	10	0.21014	T	0.42	-6.1596	5.6172	0.17438	0.3542:0.1796:0.4662:0.0	.	263;256	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	256;263	ENSP00000354609:R256H;ENSP00000363371:R263H	ENSP00000354609:R256H	R	+	2	0	CNKSR1	26382820	0.003000	0.15002	0.649000	0.29536	0.002000	0.02628	0.661000	0.25023	0.068000	0.16574	-0.946000	0.02672	CGT		0.602	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		29	35	0	0	0	1	0	29	35				
TRIM62	55223	broad.mit.edu	37	1	33612987	33612987	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33612987G>T	ENST00000291416.5	-	5	1452	c.1219C>A	c.(1219-1221)Ctt>Att	p.L407I	TRIM62_ENST00000543586.1_Missense_Mutation_p.L286I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	407	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGGACGTTAAGCCGCGTCCAG	0.582																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1219-1221)Ctt>Att		tripartite motif containing 62							97.0	93.0	94.0					1																	33612987		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612987G>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1219C>A	1.37:g.33612987G>T	ENSP00000291416:p.Leu407Ile					TRIM62_ENST00000543586.1_Missense_Mutation_p.L286I	p.L407I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1452	-		Myeloproliferative disorder(586;0.0393)	407			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1219C>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448754	0.84101	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.65364	-0.15;-0.15	5.68	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.67517	2.055	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	T	0.78054	-0.2354	10	0.66056	D	0.02	.	12.3042	0.54891	0.0826:0.0:0.9174:0.0	.	407	Q9BVG3	TRI62_HUMAN	I	407;286	ENSP00000291416:L407I;ENSP00000441173:L286I	ENSP00000291416:L407I	L	-	1	0	TRIM62	33385574	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.642000	0.67888	1.397000	0.46682	0.436000	0.28706	CTT		0.582	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		25	31	1	0	4.43304e-23	1	4.93775e-23	25	31				
CHD6	84181	broad.mit.edu	37	20	40126825	40126825	+	Silent	SNP	G	G	A	rs200662558		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40126825G>A	ENST00000373233.3	-	7	1134	c.957C>T	c.(955-957)taC>taT	p.Y319Y	CHD6_ENST00000373222.3_Silent_p.Y354Y|CHD6_ENST00000309279.7_Silent_p.Y319Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	319	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TATACTTAACGTAGAACAGCT	0.383																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(955-957)taC>taT		chromodomain helicase DNA binding protein 6		G		0,4406		0,0,2203	60.0	58.0	59.0		957	4.4	1.0	20		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD6	NM_032221.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/2716	40126825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40126825G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.957C>T	20.37:g.40126825G>A						CHD6_ENST00000373222.3_Silent_p.Y354Y|CHD6_ENST00000309279.7_Silent_p.Y319Y	p.Y319Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			7	1134	-		Myeloproliferative disorder(115;0.00425)	319			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.957C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	8.416	0.845178	0.16963	0.0	1.16E-4	ENSG00000124177	ENST00000440697	.	.	.	5.36	4.42	0.53409	.	.	.	.	.	T	0.70072	0.3182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69580	-0.5107	4	.	.	.	-14.4083	14.4186	0.67168	0.0712:0.0:0.9288:0.0	.	.	.	.	M	22	.	.	T	-	2	0	CHD6	39560239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.102000	0.41796	1.415000	0.47037	0.650000	0.86243	ACG		0.383	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			17	23	0	0	0	1	0	17	23				
TEKT3	64518	broad.mit.edu	37	17	15234866	15234866	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15234866C>T	ENST00000395930.1	-	3	223	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A13T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	13					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTAGGGTGGGCGTAAGTTGTC	0.433																																						ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(37-39)Gcc>Acc		tektin 3							92.0	86.0	88.0					17																	15234866		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234866C>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.37G>A	17.37:g.15234866C>T	ENSP00000379263:p.Ala13Thr					TEKT3_ENST00000338696.2_Missense_Mutation_p.A13T	p.A13T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	223	-			13					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.37G>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484052	0.26598	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.47177	4.12;4.12;1.51;1.5;0.85	5.47	5.47	0.80525	.	0.071179	0.64402	D	0.000017	T	0.36468	0.0968	L	0.35487	1.065	0.38830	D	0.955833	B	0.21821	0.061	B	0.14023	0.01	T	0.17198	-1.0377	10	0.18710	T	0.47	-6.8483	14.9372	0.70967	0.0:0.9294:0.0:0.0706	.	13	Q9BXF9	TEKT3_HUMAN	T	13	ENSP00000379263:A13T;ENSP00000343995:A13T;ENSP00000446111:A13T;ENSP00000439713:A13T;ENSP00000444180:A13T	ENSP00000343995:A13T	A	-	1	0	TEKT3	15175591	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	3.571000	0.53841	2.752000	0.94435	0.650000	0.86243	GCC		0.433	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		9	25	0	0	0	1	0	9	25				
DUSP8	1850	broad.mit.edu	37	11	1579038	1579038	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1579038G>A	ENST00000397374.3	-	6	934	c.807C>T	c.(805-807)tcC>tcT	p.S269S	DUSP8_ENST00000331588.4_Silent_p.S269S|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	269	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGGCGTCGTCGGAGGACATGC	0.622																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(805-807)tcC>tcT		dual specificity phosphatase 8							130.0	116.0	121.0					11																	1579038		2202	4299	6501	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579038G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.807C>T	11.37:g.1579038G>A						DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.S269S	p.S269S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	6	934	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	269			Tyrosine-protein phosphatase.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.807C>T	CCDS7724.1																																																																																				0.622	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		6	25	0	0	0	1	0	6	25				
SLC16A11	162515	broad.mit.edu	37	17	6945091	6945091	+	Silent	SNP	C	C	T	rs561048667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6945091C>T	ENST00000308009.1	-	4	1660	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SLC16A11_ENST00000447225.1_Silent_p.T409T	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	441					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CTGGGGGAGGCGTGGCTGGAG	0.617																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1321-1323)acG>acA		solute carrier family 16, member 11							23.0	30.0	27.0					17																	6945091		2201	4289	6490	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945091C>T	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1323G>A	17.37:g.6945091C>T						SLC16A11_ENST00000447225.1_Silent_p.T409T	p.T441T	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1660	-			441						Silent	SNP	ENST00000308009.1	37	c.1323G>A	CCDS11086.1																																																																																				0.617	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		4	11	0	0	0	1	0	4	11				
BAG6	7917	broad.mit.edu	37	6	31614220	31614220	+	Missense_Mutation	SNP	C	C	T	rs143680960		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31614220C>T	ENST00000375964.6	-	8	1200	c.887G>A	c.(886-888)cGc>cAc	p.R296H	BAG6_ENST00000362049.6_Missense_Mutation_p.R290H|BAG6_ENST00000439687.2_Missense_Mutation_p.R290H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.R290H|BAG6_ENST00000404765.2_Missense_Mutation_p.R290H|BAG6_ENST00000375976.4_Missense_Mutation_p.R290H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	296	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTCGTAGTAGCGCTGCAAGAA	0.592																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(868-870)cGc>cAc		BCL2-associated athanogene 6		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3021		0,1,1510	114.0	111.0	112.0		869,869,869,887,869,869	4.3	1.0	6	dbSNP_134	112	0,5418		0,0,2709	no	missense,missense,missense,missense,missense,missense	BAG6	NM_001098534.1,NM_001199697.1,NM_001199698.1,NM_004639.3,NM_080702.2,NM_080703.2	29,29,29,29,29,29	0,1,4219	TT,TC,CC		0.0,0.0331,0.0118	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	290/1127,290/904,290/1078,296/1133,290/1127,290/1127	31614220	1,8439	1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614220C>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.887G>A	6.37:g.31614220C>T	ENSP00000365131:p.Arg296His					BAG6_ENST00000375976.4_Missense_Mutation_p.R290H|BAG6_ENST00000362049.6_Missense_Mutation_p.R290H|BAG6_ENST00000211379.5_Missense_Mutation_p.R290H|BAG6_ENST00000439687.2_Missense_Mutation_p.R290H|BAG6_ENST00000375964.6_Missense_Mutation_p.R296H	p.R290H			P46379	BAG6_HUMAN			8	1158	-			296			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.869G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545717	0.65198	3.31E-4	0.0	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.60299	0.78;0.88;0.78;0.78;0.37;0.8;0.2	5.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.73217	2.22	0.51767	D	0.999932	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.963;0.999	D;D;D;P;D	0.83275	0.995;0.996;0.956;0.493;0.991	T	0.67425	-0.5674	10	0.42905	T	0.14	.	12.6142	0.56567	0.0:0.918:0.0:0.082	.	290;290;290;296;290	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	H	290;296;290;290;290;290;290;290	ENSP00000365143:R290H;ENSP00000365131:R296H;ENSP00000211379:R290H;ENSP00000384494:R290H;ENSP00000402856:R290H;ENSP00000354875:R290H;ENSP00000397978:R290H	ENSP00000211379:R290H	R	-	2	0	BAG6	31722199	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	6.070000	0.71220	1.188000	0.43014	-0.253000	0.11424	CGC		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		16	25	0	0	0	1	0	16	25				
DGKH	160851	broad.mit.edu	37	13	42793372	42793372	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42793372G>A	ENST00000337343.4	+	27	3241	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	DGKH_ENST00000536612.1_Missense_Mutation_p.E938K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.E1074K|DGKH_ENST00000261491.5_Missense_Mutation_p.E1074K|DGKH_ENST00000379274.2_Missense_Mutation_p.E938K|DGKH_ENST00000538674.1_Missense_Mutation_p.E829K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1074					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ATAGCAGCTGGAATCGCCACA	0.423																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2812-2814)Gaa>Aaa		diacylglycerol kinase, eta							162.0	170.0	167.0					13																	42793372		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42793372G>A	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3220G>A	13.37:g.42793372G>A	ENSP00000337572:p.Glu1074Lys					DGKH_ENST00000540693.1_Missense_Mutation_p.E1074K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.E1074K|DGKH_ENST00000538674.1_Missense_Mutation_p.E829K|DGKH_ENST00000536612.1_Missense_Mutation_p.E938K|DGKH_ENST00000261491.4_Missense_Mutation_p.E1074K	p.E938K			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	27	3241	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	1074					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.2812G>A	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217713	0.58560	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80123	-1.34;-1.15;-1.34;-1.32;-1.32;1.9	5.48	5.48	0.80851	.	0.048576	0.85682	D	0.000000	T	0.81460	0.4827	L	0.52364	1.645	0.58432	D	0.999997	P;P;P;B	0.36010	0.486;0.486;0.532;0.354	B;B;B;B	0.41412	0.333;0.356;0.356;0.138	T	0.81982	-0.0683	10	0.59425	D	0.04	.	19.365	0.94458	0.0:0.0:1.0:0.0	.	829;938;1074;1074	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	K	1074;1074;1074;938;938;829	ENSP00000440823:E1074K;ENSP00000337572:E1074K;ENSP00000261491:E1074K;ENSP00000368576:E938K;ENSP00000445114:E938K;ENSP00000441308:E829K	ENSP00000261491:E1074K	E	+	1	0	DGKH	41691372	1.000000	0.71417	0.951000	0.38953	0.587000	0.36485	9.097000	0.94193	2.558000	0.86282	0.650000	0.86243	GAA		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		57	97	0	0	0	1	0	57	97				
LAMB1	3912	broad.mit.edu	37	7	107605029	107605029	+	Missense_Mutation	SNP	G	G	A	rs534982664		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107605029G>A	ENST00000222399.6	-	14	1896	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F	LAMB1_ENST00000393561.1_Missense_Mutation_p.L580F|LAMB1_ENST00000393560.1_Missense_Mutation_p.L556F	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	556	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCTTCATAGAGGTAGTGATCC	0.537																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1738-1740)Ctc>Ttc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						184.0	161.0	169.0					7																	107605029		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107605029G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1666C>T	7.37:g.107605029G>A	ENSP00000222399:p.Leu556Phe					LAMB1_ENST00000222399.6_Missense_Mutation_p.L556F|LAMB1_ENST00000393560.1_Missense_Mutation_p.L556F	p.L580F			P07942	LAMB1_HUMAN			12	1922	-			556			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1738C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296782	0.40594	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39592	1.39;1.39;1.07	4.64	2.29	0.28610	Laminin IV (1);	.	.	.	.	T	0.28134	0.0694	L	0.38175	1.15	0.25377	N	0.988648	B;B;B	0.31383	0.068;0.132;0.321	B;B;B	0.26310	0.021;0.057;0.068	T	0.14227	-1.0480	9	0.26408	T	0.33	.	7.0237	0.24928	0.0:0.08:0.3234:0.5966	.	556;556;580	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	F	580;556;556	ENSP00000377191:L580F;ENSP00000222399:L556F;ENSP00000377190:L556F	ENSP00000222399:L556F	L	-	1	0	LAMB1	107392265	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	0.682000	0.25335	0.197000	0.20387	0.563000	0.77884	CTC		0.537	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		30	61	0	0	0	1	0	30	61				
SERPINC1	462	broad.mit.edu	37	1	173878765	173878765	+	Missense_Mutation	SNP	C	C	T	rs199469509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173878765C>T	ENST00000367698.3	-	5	1196	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	360					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G360S(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	AAACTGAAGCCGTCCTCAATG	0.542																																						ENST00000367698.3																			1	Substitution - Missense(1)	p.G360S(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1078-1080)Ggc>Agc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						116.0	116.0	116.0					1																	173878765		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878765C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1078G>A	1.37:g.173878765C>T	ENSP00000356671:p.Gly360Ser						p.G360S	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	1196	-			360					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1078G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	c	6.370	0.436334	0.12104	.	.	ENSG00000117601	ENST00000367698	D	0.82344	-1.6	5.64	-1.51	0.08664	Serpin domain (3);	0.616386	0.19807	N	0.105640	T	0.18130	0.0435	N	0.00661	-1.28	0.23030	N	0.998404	B	0.06786	0.001	B	0.11329	0.006	T	0.44375	-0.9332	10	0.02654	T	1	.	2.9609	0.05891	0.1068:0.3078:0.109:0.4764	.	360	P01008	ANT3_HUMAN	S	360	ENSP00000356671:G360S	ENSP00000356671:G360S	G	-	1	0	SERPINC1	172145388	0.999000	0.42202	0.963000	0.40424	0.963000	0.63663	0.577000	0.23758	-0.507000	0.06549	-0.119000	0.15052	GGC		0.542	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		19	45	0	0	0	1	0	19	45				
BAG6	7917	broad.mit.edu	37	6	31614295	31614295	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31614295G>T	ENST00000375964.6	-	8	1125	c.812C>A	c.(811-813)cCt>cAt	p.P271H	BAG6_ENST00000362049.6_Missense_Mutation_p.P265H|BAG6_ENST00000439687.2_Missense_Mutation_p.P265H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.P265H|BAG6_ENST00000404765.2_Missense_Mutation_p.P265H|BAG6_ENST00000375976.4_Missense_Mutation_p.P265H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	271	4 X 29 AA approximate repeats.|Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGCAGGGGAAGGATGGCTGTG	0.592																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(793-795)cCt>cAt		BCL2-associated athanogene 6							99.0	103.0	101.0					6																	31614295		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614295G>T	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.812C>A	6.37:g.31614295G>T	ENSP00000365131:p.Pro271His					BAG6_ENST00000375976.4_Missense_Mutation_p.P265H|BAG6_ENST00000362049.6_Missense_Mutation_p.P265H|BAG6_ENST00000211379.5_Missense_Mutation_p.P265H|BAG6_ENST00000439687.2_Missense_Mutation_p.P265H|BAG6_ENST00000375964.6_Missense_Mutation_p.P271H	p.P265H			P46379	BAG6_HUMAN			8	1083	-			271			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.794C>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761216	0.89932	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.59638	0.86;0.84;0.86;0.86;0.32;0.89;0.25	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.996;0.998	T	0.69000	-0.5261	10	0.87932	D	0	.	18.5923	0.91218	0.0:0.0:1.0:0.0	.	265;265;265;271;265	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	H	265;271;265;265;265;265;265;265	ENSP00000365143:P265H;ENSP00000365131:P271H;ENSP00000211379:P265H;ENSP00000384494:P265H;ENSP00000402856:P265H;ENSP00000354875:P265H;ENSP00000397978:P265H	ENSP00000211379:P265H	P	-	2	0	BAG6	31722274	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.677000	0.84024	2.688000	0.91661	0.563000	0.77884	CCT		0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		16	39	1	0	1.02788e-11	1	1.10723e-11	16	39				
RLF	6018	broad.mit.edu	37	1	40704481	40704481	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40704481T>A	ENST00000372771.4	+	8	4134	c.4107T>A	c.(4105-4107)tgT>tgA	p.C1369*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1369					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)			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)			ATAAGGAATGTAATAAACGCT	0.363																																						ENST00000372771.4																			0				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						c.(4105-4107)tgT>tgA		rearranged L-myc fusion							85.0	89.0	88.0					1																	40704481		2203	4300	6503	SO:0001587	stop_gained	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.chr1:40704481T>A		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.4107T>A	1.37:g.40704481T>A	ENSP00000361857:p.Cys1369*						p.C1369*	NM_012421.3	NP_036553.2	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)		8	4134	+	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)	1369					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.4107T>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	T	40	8.519639	0.98845	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	5.91	4.79	0.61399	.	0.090504	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5049	11.4297	0.50032	0.0:0.0696:0.0:0.9304	.	.	.	.	X	1369;1062	.	ENSP00000361857:C1369X	C	+	3	2	RLF	40477068	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.242000	0.43106	2.254000	0.74563	0.533000	0.62120	TGT		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		28	39	0	0	0	1	0	28	39				
ABHD17B	51104	broad.mit.edu	37	9	74481729	74481729	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:74481729C>T	ENST00000333421.6	-	4	952	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	ABHD17B_ENST00000377041.2_Missense_Mutation_p.V281M	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	281						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TCCTGTGACACAAACTGTTTC	0.398																																						ENST00000333421.6																			0											c.(841-843)Gtg>Atg		abhydrolase domain containing 17B							62.0	59.0	60.0					9																	74481729		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74481729C>T	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.841G>A	9.37:g.74481729C>T	ENSP00000330222:p.Val281Met					ABHD17B_ENST00000377041.2_Missense_Mutation_p.V281M	p.V281M	NM_001025780.1	NP_001020951.1					4	952	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.841G>A	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561195	0.65538	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.42513	0.97;0.97	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.66506	2.035	0.58432	D	0.999999	P;P	0.48640	0.913;0.889	P;P	0.54210	0.56;0.745	T	0.59311	-0.7478	10	0.59425	D	0.04	-5.5963	19.9651	0.97262	0.0:1.0:0.0:0.0	.	281;281	Q5VST6;Q5VST6-2	F108B_HUMAN;.	M	281	ENSP00000366240:V281M;ENSP00000330222:V281M	ENSP00000330222:V281M	V	-	1	0	FAM108B1	73671549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.798000	0.55522	2.793000	0.96121	0.655000	0.94253	GTG		0.398	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		7	40	0	0	0	1	0	7	40				
SYNGAP1	8831	broad.mit.edu	37	6	33405973	33405973	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33405973C>A	ENST00000418600.2	+	8	1392	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L431M|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L372M|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	431					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTATCGGATGCTGTGTGCAGT	0.527																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(1291-1293)Ctg>Atg		synaptic Ras GTPase activating protein 1							160.0	157.0	158.0					6																	33405973		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405973C>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1291C>A	6.37:g.33405973C>A	ENSP00000403636:p.Leu431Met					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L372M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L431M|SYNGAP1_ENST00000496374.1_3'UTR	p.L431M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	1392	+			431					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1291C>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	c	15.15	2.748311	0.49257	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.25414	1.8;1.8;1.8	4.86	4.0	0.46444	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.093820	0.44483	D	0.000445	T	0.19327	0.0464	L	0.46670	1.46	0.51767	D	0.999939	P;D;D;P	0.55385	0.95;0.971;0.971;0.841	P;P;P;P	0.48704	0.455;0.531;0.531;0.587	T	0.01945	-1.1242	10	0.66056	D	0.02	.	13.128	0.59366	0.0:0.838:0.162:0.0	.	431;431;431;431	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	M	431;431;431;372	ENSP00000293748:L431M;ENSP00000403636:L431M;ENSP00000412475:L372M	ENSP00000293748:L431M	L	+	1	2	SYNGAP1	33513951	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.897000	0.56273	1.271000	0.44313	-0.127000	0.14921	CTG		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		66	82	1	0	2.02796e-37	1	2.27767e-37	66	82				
THRA	7067	broad.mit.edu	37	17	38244663	38244663	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38244663G>A	ENST00000264637.4	+	8	1472	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	THRA_ENST00000546243.1_Missense_Mutation_p.A298T|THRA_ENST00000584985.1_Missense_Mutation_p.A298T|THRA_ENST00000394121.4_Missense_Mutation_p.A298T|THRA_ENST00000450525.2_Missense_Mutation_p.A298T	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	298	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTCTCCGACGCCATCTTTGA	0.587																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(892-894)Gcc>Acc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						113.0	105.0	108.0					17																	38244663		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38244663G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.892G>A	17.37:g.38244663G>A	ENSP00000264637:p.Ala298Thr					THRA_ENST00000584985.1_Missense_Mutation_p.A298T|THRA_ENST00000546243.1_Missense_Mutation_p.A298T|THRA_ENST00000394121.4_Missense_Mutation_p.A298T|THRA_ENST00000264637.4_Missense_Mutation_p.A298T	p.A298T	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			8	1383	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	298			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.892G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.792081	0.90453	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.25	5.25	0.73442	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	L	0.58583	1.82	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.954;0.955;0.992	D	0.96878	0.9644	10	0.34782	T	0.22	.	17.6746	0.88227	0.0:0.0:1.0:0.0	.	298;298;298	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	T	298	ENSP00000377679:A298T;ENSP00000264637:A298T;ENSP00000395641:A298T;ENSP00000443972:A298T	ENSP00000264637:A298T	A	+	1	0	THRA	35498189	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	9.758000	0.98927	2.446000	0.82766	0.486000	0.48141	GCC		0.587	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			65	70	0	0	0	1	0	65	70				
TTN	7273	broad.mit.edu	37	2	179478930	179478930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179478930C>T	ENST00000591111.1	-	212	44495	c.44271G>A	c.(44269-44271)tgG>tgA	p.W14757*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W13830*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7458*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7333*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W16398*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7525*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14757	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCTTGTGCCACACTTCAC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49192-49194)tgG>tgA		titin							146.0	135.0	138.0					2																	179478930		2005	4184	6189	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478930C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44271G>A	2.37:g.179478930C>T	ENSP00000465570:p.Trp14757*					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7525*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W14757*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7333*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W13830*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7458*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.W16398*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	49418	-			14757			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.49194G>A		.	.	.	.	.	.	.	.	.	.	C	59	37.121217	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	X	13830;7333;7525;7458;7333	.	ENSP00000340554:W7525X	W	-	3	0	TTN	179187175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.885000	0.99019	0.655000	0.94253	TGG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	27	0	0	0	1	0	6	27				
TRAF3IP1	26146	broad.mit.edu	37	2	239261531	239261531	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239261531G>T	ENST00000373327.4	+	13	1737	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E505D|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E439D	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	505	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E505E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ACAATGAAGAGGATGATCAAT	0.328																																						ENST00000373327.4																			1	Substitution - coding silent(1)	p.E505E(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(1513-1515)gaG>gaT		TNF receptor-associated factor 3 interacting protein 1							73.0	71.0	71.0					2																	239261531		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239261531G>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1515G>T	2.37:g.239261531G>T	ENSP00000362424:p.Glu505Asp					TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E439D|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E505D	p.E505D	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	13	1737	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	505			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1515G>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	7.456	0.643605	0.14451	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.10668	2.85;2.85;2.85	4.86	-8.0	0.01126	.	0.341708	0.33161	N	0.005208	T	0.02929	0.0087	N	0.12746	0.255	0.22771	N	0.998751	B;B	0.24483	0.104;0.064	B;B	0.27608	0.066;0.081	T	0.34850	-0.9812	10	0.13853	T	0.58	-12.1992	0.5494	0.00660	0.2264:0.2972:0.1794:0.297	.	439;505	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	D	439;505;505;439	ENSP00000375851:E439D;ENSP00000362424:E505D;ENSP00000375852:E505D	ENSP00000362424:E505D	E	+	3	2	TRAF3IP1	238926270	0.000000	0.05858	0.003000	0.11579	0.792000	0.44763	-4.924000	0.00169	-1.899000	0.01098	-0.169000	0.13324	GAG		0.328	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		23	28	1	0	3.6726e-16	1	4.02897e-16	23	28				
TAGAP	117289	broad.mit.edu	37	6	159457259	159457259	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159457259G>A	ENST00000367066.3	-	10	2127	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A421V|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	599					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCCCTGCATGGCCTCTTCATA	0.667																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1795-1797)gCc>gTc		T-cell activation RhoGTPase activating protein							37.0	42.0	40.0					6																	159457259		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457259G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1796C>T	6.37:g.159457259G>A	ENSP00000356033:p.Ala599Val					RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A421V	p.A599V	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2127	-		Breast(66;0.000776)|Ovarian(120;0.0303)	599					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1796C>T	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606783	0.87157	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.55234	0.53;0.53	5.54	5.54	0.83059	.	0.075882	0.53938	D	0.000043	T	0.66509	0.2796	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	P	0.59546	0.859	T	0.71140	-0.4679	10	0.87932	D	0	-18.3125	19.077	0.93167	0.0:0.0:1.0:0.0	.	599	Q8N103	TAGAP_HUMAN	V	599;421;264	ENSP00000356033:A599V;ENSP00000322650:A421V	ENSP00000322650:A421V	A	-	2	0	TAGAP	159377247	1.000000	0.71417	0.979000	0.43373	0.289000	0.27227	8.693000	0.91288	2.595000	0.87683	0.655000	0.94253	GCC		0.667	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		20	23	0	0	0	1	0	20	23				
BCL9	607	broad.mit.edu	37	1	147096365	147096365	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147096365C>T	ENST00000234739.3	+	10	4626	c.3886C>T	c.(3886-3888)Cca>Tca	p.P1296S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1296	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGGTCCAGGGCCAGTGGGAAC	0.597			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(3886-3888)Cca>Tca		B-cell CLL/lymphoma 9							78.0	64.0	69.0					1																	147096365		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096365C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3886C>T	1.37:g.147096365C>T	ENSP00000234739:p.Pro1296Ser						p.P1296S	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			10	4626	+	all_hematologic(923;0.115)		1296			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3886C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921936	0.33908	.	.	ENSG00000116128	ENST00000234739	T	0.54071	0.59	5.26	5.26	0.73747	.	0.188610	0.49916	D	0.000127	T	0.27832	0.0685	N	0.22421	0.69	0.32357	N	0.557704	P;P	0.47762	0.9;0.9	P;P	0.44518	0.452;0.452	T	0.10823	-1.0613	10	0.12103	T	0.63	-6.3905	18.8573	0.92257	0.0:1.0:0.0:0.0	.	1296;1296	Q1JQ81;O00512	.;BCL9_HUMAN	S	1296	ENSP00000234739:P1296S	ENSP00000234739:P1296S	P	+	1	0	BCL9	145562989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.671000	0.61590	2.456000	0.83038	0.650000	0.86243	CCA		0.597	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		6	22	0	0	0	1	0	6	22				
UBASH3B	84959	broad.mit.edu	37	11	122680579	122680579	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:122680579C>A	ENST00000284273.5	+	14	2310	c.1935C>A	c.(1933-1935)acC>acA	p.T645T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	645	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGAGAGAGACCTTGCTTCAAG	0.458																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1933-1935)acC>acA		ubiquitin associated and SH3 domain containing B							82.0	83.0	83.0					11																	122680579		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122680579C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1935C>A	11.37:g.122680579C>A							p.T645T	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	14	2310	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	645			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1935C>A	CCDS31694.1																																																																																				0.458	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		17	34	1	0	8.28177e-16	1	9.07663e-16	17	34				
CFB	629	broad.mit.edu	37	6	31917903	31917903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31917903G>A	ENST00000425368.2	+	11	1998	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*	CFB_ENST00000477310.1_Nonsense_Mutation_p.W846*|CFB_ENST00000456570.1_Nonsense_Mutation_p.W997*|CFB_ENST00000556679.1_Nonsense_Mutation_p.W997*	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	495	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCAACCATGGCAGGCCAAGA	0.512																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2989-2991)tgG>tgA		complement factor B							115.0	116.0	116.0					6																	31917903		1510	2709	4219	SO:0001587	stop_gained	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917903G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1485G>A	6.37:g.31917903G>A	ENSP00000416561:p.Trp495*					CFB_ENST00000425368.2_Nonsense_Mutation_p.W495*|CFB_ENST00000477310.1_Nonsense_Mutation_p.W846*|CFB_ENST00000556679.1_Nonsense_Mutation_p.W997*	p.W997*			P00751	CFAB_HUMAN			23	3046	+			495					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Nonsense_Mutation	SNP	ENST00000425368.2	37	c.2991G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	42	9.388638	0.99156	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.	.	.	5.48	5.48	0.80851	.	0.000000	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9759	15.1913	0.73047	0.0:0.0:1.0:0.0	.	.	.	.	X	997;495;997;846	.	ENSP00000416561:W495X	W	+	3	0	CFB;XXbac-BPG116M5.17	32025882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	2.737000	0.93849	0.563000	0.77884	TGG		0.512	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		30	39	0	0	0	1	0	30	39				
CRYBG3	131544	broad.mit.edu	37	3	97596502	97596502	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97596502C>T	ENST00000182096.4	+	1	684	c.620C>T	c.(619-621)gCa>gTa	p.A207V		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2155							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAGGAGGAGGCAGCAGTATTG	0.468																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(619-621)gCa>gTa		beta-gamma crystallin domain containing 3							66.0	72.0	70.0					3																	97596502		2143	4271	6414	SO:0001583	missense	131544							g.chr3:97596502C>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.620C>T	3.37:g.97596502C>T	ENSP00000182096:p.Ala207Val						p.A207V	NM_153605.3	NP_705833.3					1	684	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.620C>T		.	.	.	.	.	.	.	.	.	.	C	5.369	0.253268	0.10185	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.52	-1.62	0.08372	.	1.134180	0.06778	N	0.784789	T	0.46132	0.1377	N	0.03608	-0.345	0.23282	N	0.997989	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.54805	T	0.06	.	1.3788	0.02226	0.4135:0.2809:0.1777:0.1279	.	207	Q68DQ2	CRBG3_HUMAN	V	207	ENSP00000182096:A207V	ENSP00000182096:A207V	A	+	2	0	CRYBG3	99079192	0.937000	0.31787	0.002000	0.10522	0.006000	0.05464	2.028000	0.41088	-0.155000	0.11098	-0.410000	0.06199	GCA		0.468	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		14	21	0	0	0	1	0	14	21				
PLAGL2	5326	broad.mit.edu	37	20	30785232	30785232	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30785232G>A	ENST00000246229.4	-	3	778	c.514C>T	c.(514-516)Cta>Tta	p.L172L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	172					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGTGCTCTAGCAGGGCCTGG	0.632																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(514-516)Cta>Tta		pleiomorphic adenoma gene-like 2							25.0	23.0	24.0					20																	30785232		2202	4300	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785232G>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.514C>T	20.37:g.30785232G>A							p.L172L	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	778	-			172					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.514C>T	CCDS13197.1																																																																																				0.632	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		7	3	0	0	0	1	0	7	3				
MAP1B	4131	broad.mit.edu	37	5	71492735	71492735	+	Missense_Mutation	SNP	G	G	A	rs371761339		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71492735G>A	ENST00000296755.7	+	5	3851	c.3553G>A	c.(3553-3555)Gga>Aga	p.G1185R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1185					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)			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)		ACCGCTCAACGGATTTTCTGA	0.423																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(3553-3555)Gga>Aga		microtubule-associated protein 1B		G	ARG/GLY	0,4406		0,0,2203	75.0	69.0	71.0		3553	5.3	0.7	5		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP1B	NM_005909.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1185/2469	71492735	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492735G>A	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.3553G>A	5.37:g.71492735G>A	ENSP00000296755:p.Gly1185Arg						p.G1185R	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3851	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1185					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3553G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647215	0.29246	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000025	T	0.10637	0.0260	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.965	T	0.14980	-1.0453	10	0.62326	D	0.03	-20.2751	19.0668	0.93114	0.0:0.0:1.0:0.0	.	1059;1185	A2BDK6;P46821	.;MAP1B_HUMAN	R	1185	ENSP00000296755:G1185R	ENSP00000296755:G1185R	G	+	1	0	MAP1B	71528491	0.939000	0.31865	0.670000	0.29842	0.005000	0.04900	6.564000	0.73969	2.743000	0.94032	0.655000	0.94253	GGA		0.423	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		28	20	0	0	0	1	0	28	20				
LCAT	3931	broad.mit.edu	37	16	67976325	67976325	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67976325A>G	ENST00000264005.5	-	5	718	c.689T>C	c.(688-690)tTc>tCc	p.F230S	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	230					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AAGAGAGATGAAGCCATCAAT	0.582																																						ENST00000264005.5																			0				cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16						c.(688-690)tTc>tCc		lecithin-cholesterol acyltransferase							61.0	64.0	63.0					16																	67976325		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976325A>G		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.689T>C	16.37:g.67976325A>G	ENSP00000264005:p.Phe230Ser						p.F230S	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	718	-		Ovarian(137;0.0563)	230					Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.689T>C	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486932	0.84854	.	.	ENSG00000213398	ENST00000264005	D	0.97256	-4.31	4.99	4.99	0.66335	.	0.063246	0.64402	U	0.000006	D	0.98466	0.9489	M	0.88105	2.93	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.99334	1.0910	10	0.72032	D	0.01	-15.4662	12.683	0.56932	1.0:0.0:0.0:0.0	.	230	P04180	LCAT_HUMAN	S	230	ENSP00000264005:F230S	ENSP00000264005:F230S	F	-	2	0	LCAT	66533826	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.060000	0.71141	2.094000	0.63399	0.459000	0.35465	TTC		0.582	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			11	16	0	0	0	1	0	11	16				
PELI2	57161	broad.mit.edu	37	14	56746451	56746451	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:56746451G>A	ENST00000267460.4	+	3	551	c.265G>A	c.(265-267)Gtg>Atg	p.V89M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	89	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAATCAGACTGTGGTGGTGGA	0.308																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(265-267)Gtg>Atg		pellino E3 ubiquitin protein ligase family member 2							146.0	146.0	146.0					14																	56746451		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56746451G>A	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.265G>A	14.37:g.56746451G>A	ENSP00000267460:p.Val89Met						p.V89M	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			3	551	+			89					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.265G>A	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758673	0.89843	.	.	ENSG00000139946	ENST00000267460	T	0.59906	0.23	4.84	4.84	0.62591	.	0.056254	0.64402	D	0.000001	T	0.79446	0.4447	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82948	-0.0204	10	0.87932	D	0	-21.5568	18.5132	0.90925	0.0:0.0:1.0:0.0	.	89	Q9HAT8	PELI2_HUMAN	M	89	ENSP00000267460:V89M	ENSP00000267460:V89M	V	+	1	0	PELI2	55816204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.601000	0.98297	2.673000	0.90976	0.557000	0.71058	GTG		0.308	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			40	59	0	0	0	1	0	40	59				
YJEFN3	374887	broad.mit.edu	37	19	19645851	19645851	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19645851G>A	ENST00000514277.4	+	4	365	c.327G>A	c.(325-327)ccG>ccA	p.P109P	YJEFN3_ENST00000436027.5_Silent_p.P59P|CTC-260F20.3_ENST00000555938.1_Silent_p.P108P|YJEFN3_ENST00000608404.1_Silent_p.P108P	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	109	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						AGGCGTTCCCGTTGCCCGCTC	0.657																																						ENST00000555938.1																			0											c.(322-324)ccG>ccA									93.0	107.0	102.0					19																	19645851		2096	4227	6323	SO:0001819	synonymous_variant	0							g.chr19:19645851G>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.327G>A	19.37:g.19645851G>A						YJEFN3_ENST00000514277.3_Silent_p.P109P|YJEFN3_ENST00000436027.4_Silent_p.P59P	p.P108P							5	336	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.324G>A	CCDS42530.1																																																																																				0.657	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		14	104	0	0	0	1	0	14	104				
ZFPM2	23414	broad.mit.edu	37	8	106814118	106814118	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814118C>T	ENST00000407775.2	+	8	2058	c.1808C>T	c.(1807-1809)tCc>tTc	p.S603F	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	603					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGCCAAACCTCCATAAACCTT	0.468																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1807-1809)tCc>tTc		zinc finger protein, FOG family member 2							112.0	111.0	112.0					8																	106814118		1943	4154	6097	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814118C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1808C>T	8.37:g.106814118C>T	ENSP00000384179:p.Ser603Phe					ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.S603F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2058	+			603					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1808C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239121	0.79800	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.23147	1.92;2.25;2.25;3.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.29908	0.895	0.80722	D	1	D	0.56035	0.974	P	0.45506	0.483	T	0.01042	-1.1471	10	0.48119	T	0.1	.	19.9094	0.97021	0.0:1.0:0.0:0.0	.	603	Q8WW38	FOG2_HUMAN	F	603;471;471;334	ENSP00000384179:S603F;ENSP00000430757:S471F;ENSP00000428720:S471F;ENSP00000367733:S334F	ENSP00000367733:S334F	S	+	2	0	ZFPM2	106883294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.798000	0.85924	2.715000	0.92844	0.655000	0.94253	TCC		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			38	45	0	0	0	1	0	38	45				
ZNF143	7702	broad.mit.edu	37	11	9492877	9492877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9492877C>T	ENST00000396602.2	+	2	141	c.22C>T	c.(22-24)Cga>Tga	p.R8*	ZNF143_ENST00000396597.3_Nonsense_Mutation_p.R8*|ZNF143_ENST00000299606.2_Nonsense_Mutation_p.R8*|ZNF143_ENST00000530463.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396604.1_Nonsense_Mutation_p.R8*	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	8					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCAAATAAATCGAGATTCTCA	0.418																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(22-24)Cga>Tga		zinc finger protein 143							151.0	140.0	144.0					11																	9492877		2201	4294	6495	SO:0001587	stop_gained	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9492877C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.22C>T	11.37:g.9492877C>T	ENSP00000379847:p.Arg8*					ZNF143_ENST00000530463.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396604.1_Nonsense_Mutation_p.R8*|ZNF143_ENST00000396597.3_Nonsense_Mutation_p.R8*|ZNF143_ENST00000299606.2_Nonsense_Mutation_p.R8*	p.R8*	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	2	141	+			8					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Nonsense_Mutation	SNP	ENST00000396602.2	37	c.22C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	37	6.325365	0.97476	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	.	.	.	5.89	4.98	0.66077	.	0.000000	0.39544	U	0.001336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0508	0.71867	0.0:0.9321:0.0:0.0679	.	.	.	.	X	8	.	ENSP00000299606:R8X	R	+	1	2	ZNF143	9449453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	1.492000	0.48499	0.655000	0.94253	CGA		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		13	27	0	0	0	1	0	13	27				
ADAM7	8756	broad.mit.edu	37	8	24350743	24350743	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:24350743G>A	ENST00000175238.6	+	16	1925		c.e16+1		ADAM7_ENST00000520720.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAGGGAATGGTAAGACAAAA	0.358																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.e16+1		ADAM metallopeptidase domain 7							68.0	68.0	68.0					8																	24350743		2203	4299	6502	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24350743G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1842+1G>A	8.37:g.24350743G>A						ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA		NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	16	1925	+		Prostate(55;0.0181)						A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	ENST00000175238.6	37		CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471626	0.43942	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2021	0.86908	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24406633	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	6.716000	0.74702	2.676000	0.91093	0.557000	0.71058	.		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Intron	13	29	0	0	0	1	0	13	29				
RAP1GAP	5909	broad.mit.edu	37	1	21935361	21935361	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21935361C>T	ENST00000374765.4	-	16	1340	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	RAP1GAP_ENST00000374763.2_Silent_p.E380E|RAP1GAP_ENST00000290101.4_Silent_p.E444E|RAP1GAP_ENST00000542643.2_Silent_p.E380E|RAP1GAP_ENST00000374761.2_Silent_p.E411E	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	380	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGCAAACTTCTCTGCCTTGT	0.512																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1138-1140)gaG>gaA		RAP1 GTPase activating protein							200.0	165.0	177.0					1																	21935361		2203	4300	6503	SO:0001819	synonymous_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21935361C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1140G>A	1.37:g.21935361C>T						RAP1GAP_ENST00000374761.2_Silent_p.E411E|RAP1GAP_ENST00000374763.2_Silent_p.E380E|RAP1GAP_ENST00000290101.4_Silent_p.E444E|RAP1GAP_ENST00000374765.4_Silent_p.E380E	p.E380E	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1442	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	380			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	c.1140G>A	CCDS218.1																																																																																				0.512	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		70	126	0	0	0	1	0	70	126				
CARD11	84433	broad.mit.edu	37	7	2978406	2978406	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2978406G>A	ENST00000396946.4	-	7	1327	c.924C>T	c.(922-924)gaC>gaT	p.D308D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	308					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCTCCTTGCGGTCGTGTTCCA	0.647			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(922-924)gaC>gaT		caspase recruitment domain family, member 11							82.0	67.0	72.0					7																	2978406		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2978406G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.924C>T	7.37:g.2978406G>A							p.D308D	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	7	1327	-		Ovarian(82;0.0115)	308					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.924C>T	CCDS5336.2																																																																																				0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		6	25	0	0	0	1	0	6	25				
GALNT3	2591	broad.mit.edu	37	2	166613680	166613680	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166613680A>G	ENST00000392701.3	-	7	2044	c.1269T>C	c.(1267-1269)caT>caC	p.H423H	GALNT3_ENST00000409882.1_Silent_p.H161H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	423					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTGGAAAGCTATGAGGGCTTT	0.403																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1267-1269)caT>caC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							107.0	101.0	103.0					2																	166613680		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166613680A>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1269T>C	2.37:g.166613680A>G						GALNT3_ENST00000409882.1_Silent_p.H161H	p.H423H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			7	2044	-			423					Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1269T>C	CCDS2226.1																																																																																				0.403	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	37	0	0	0	1	0	31	37				
SLC6A9	6536	broad.mit.edu	37	1	44463274	44463274	+	Silent	SNP	C	C	T	rs201082592		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44463274C>T	ENST00000360584.2	-	14	2255	c.2064G>A	c.(2062-2064)gcG>gcA	p.A688A	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.A634A|SLC6A9_ENST00000475075.2_Silent_p.A504A|SLC6A9_ENST00000372310.3_Silent_p.A615A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	688					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A688A(1)|p.A615A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGGGATCTGCGCCTTGTCCG	0.692													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16179	0.0		0.0	False		,,,				2504	0.0					ENST00000372310.3																			2	Substitution - coding silent(2)	p.A688A(1)|p.A615A(1)	large_intestine(2)	endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1843-1845)gcG>gcA		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						66.0	78.0	74.0					1																	44463274		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463274C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.2064G>A	1.37:g.44463274C>T						SLC6A9_ENST00000357730.2_Silent_p.A634A|SLC6A9_ENST00000475075.2_Silent_p.A504A|SLC6A9_ENST00000360584.2_Silent_p.A688A|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	p.A615A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			14	2010	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	688					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1845G>A	CCDS41317.1																																																																																				0.692	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		16	76	0	0	0	1	0	16	76				
EIF4G1	1981	broad.mit.edu	37	3	184045675	184045675	+	Missense_Mutation	SNP	C	C	T	rs376228156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184045675C>T	ENST00000346169.2	+	26	4109	c.3838C>T	c.(3838-3840)Cgg>Tgg	p.R1280W	EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1084W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1194W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1280W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1116W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1287W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1085W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1117W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1241W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1281W|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1240W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1280	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATCTTTGTACGGCATGGTGT	0.602																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3841-3843)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 1		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	96.0	80.0	85.0		3859,3859,3253,3841,3838,3346,3577	6.2	1.0	3		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1287/1607,1287/1607,1085/1405,1281/1601,1280/1600,1116/1436,1193/1513	184045675	1,13005	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045675C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3838C>T	3.37:g.184045675C>T	ENSP00000316879:p.Arg1280Trp					EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1116W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1084W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1194W|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1287W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1240W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1241W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1280W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1117W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1085W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1287W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1280W	p.R1281W	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		25	4255	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1280			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3841C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062272	0.93846	0.0	1.16E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.17	6.17	0.99709	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.113022	0.64402	D	0.000010	T	0.63827	0.2544	M	0.80982	2.52	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.63192	0.912;0.912;0.912	T	0.64546	-0.6382	10	0.72032	D	0.01	-15.5076	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1287;1281;1280	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	1280;1240;1193;1287;1116;1287;1194;1281;1280;1287;1241;1117;1085;1084	ENSP00000316879:R1280W;ENSP00000391935:R1240W;ENSP00000376320:R1193W;ENSP00000371767:R1287W;ENSP00000317600:R1116W;ENSP00000338020:R1287W;ENSP00000407682:R1194W;ENSP00000343450:R1281W;ENSP00000323737:R1280W;ENSP00000416255:R1287W;ENSP00000395974:R1241W;ENSP00000399858:R1117W;ENSP00000411826:R1085W;ENSP00000404754:R1084W	ENSP00000323737:R1280W	R	+	1	2	EIF4G1	185528369	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.673000	0.61604	2.941000	0.99782	0.655000	0.94253	CGG		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		19	35	0	0	0	1	0	19	35				
CLTC	1213	broad.mit.edu	37	17	57751078	57751078	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57751078T>C	ENST00000269122.3	+	15	2637	c.2363T>C	c.(2362-2364)gTg>gCg	p.V788A	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.V788A|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	788	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGATTTGGTGCTCTATTTA	0.294			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2362-2364)gTg>gCg		clathrin, heavy chain (Hc)							54.0	53.0	54.0					17																	57751078		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57751078T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2363T>C	17.37:g.57751078T>C	ENSP00000269122:p.Val788Ala					CLTC_ENST00000393043.1_Missense_Mutation_p.V788A|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	p.V788A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			15	2637	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		788			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2363T>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710674	0.89112	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20069	2.1;2.1	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.60067	1.865	0.80722	D	1	D;B	0.63046	0.992;0.232	D;P	0.80764	0.994;0.56	T	0.27872	-1.0061	10	0.54805	T	0.06	.	15.6517	0.77099	0.0:0.0:0.0:1.0	.	788;788	Q00610;Q00610-2	CLH1_HUMAN;.	A	788	ENSP00000269122:V788A;ENSP00000376763:V788A	ENSP00000269122:V788A	V	+	2	0	CLTC	55105860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.924000	0.87555	2.155000	0.67459	0.377000	0.23210	GTG		0.294	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		17	22	0	0	0	1	0	17	22				
ZNF890P	645700	broad.mit.edu	37	7	5167333	5167333	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5167333C>T	ENST00000422060.2	-	0	518					NR_034163.1				zinc finger protein 890, pseudogene																		GCCACTCTTTCCGGGTGAAGC	0.577																																						ENST00000422060.2																			0																																																			0							g.chr7:5167333C>T			7p22.1	2011-05-24			ENSG00000159904	ENSG00000159904			38691	pseudogene	pseudogene							Standard	NR_034163		Approved		uc003snu.1		OTTHUMG00000166790		7.37:g.5167333C>T								NR_034163.1						0	518	-									RNA	SNP	ENST00000422060.2	37																																																																																						0.577	ZNF890P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391474.1	NR_034163		4	9	0	0	0	1	0	4	9				
CNTNAP3B	728577	broad.mit.edu	37	9	43816768	43816768	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43816768A>G	ENST00000377564.3	+	6	1267	c.874A>G	c.(874-876)Act>Gct	p.T292A	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.T292A	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	292	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGACAAACACACTCATCATTT	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(874-876)Act>Gct		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43816768A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.874A>G	9.37:g.43816768A>G	ENSP00000366787:p.Thr292Ala					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.T292A	p.T292A	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			6	1267	+			292			Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.874A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564240	0.45694	.	.	ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	T;T	0.77620	-1.11;-1.11	2.77	2.77	0.32553	.	.	.	.	.	T	0.78597	0.4308	M	0.76328	2.33	0.20975	N	0.999811	.	.	.	.	.	.	T	0.67201	-0.5730	7	0.35671	T	0.21	.	5.64	0.17559	0.8656:0.0:0.1344:0.0	.	.	.	.	A	292	ENSP00000366787:T292A;ENSP00000276974:T292A	ENSP00000276974:T292A	T	+	1	0	CNTNAP3B	43756764	0.999000	0.42202	0.057000	0.19452	0.341000	0.28922	5.428000	0.66489	1.289000	0.44618	0.338000	0.21704	ACT		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			18	85	0	0	0	1	0	18	85				
MYH2	4620	broad.mit.edu	37	17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T	rs369618095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10438444C>T	ENST00000245503.5	-	19	2510	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R709H|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	709	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTACAGATGCGGATGCCTTC	0.433																																						ENST00000245503.5																			0				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						c.(2125-2127)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	83.0	84.0		2126,2126	5.1	1.0	17		84	0,8600		0,0,4300	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	709/1942,709/1942	10438444	1,13005	2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438444C>T		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.2126G>A	17.37:g.10438444C>T	ENSP00000245503:p.Arg709His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R709H	p.R709H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			19	2510	-			709			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2126G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442356	0.96187	2.27E-4	0.0	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78003	-1.14;-1.14	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.35772	U	0.002994	D	0.92792	0.7708	H	0.98178	4.165	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.95271	0.8377	10	0.87932	D	0	.	18.6948	0.91596	0.0:1.0:0.0:0.0	.	709	Q9UKX2	MYH2_HUMAN	H	709	ENSP00000245503:R709H;ENSP00000380367:R709H	ENSP00000245503:R709H	R	-	2	0	MYH2	10379169	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.638000	0.83328	2.651000	0.90000	0.591000	0.81541	CGC		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		18	52	0	0	0	1	0	18	52				
TECPR2	9895	broad.mit.edu	37	14	102843240	102843240	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102843240G>A	ENST00000359520.7	+	2	408	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.C61Y	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	61					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TATCTGTACTGCCGGCACCTC	0.557																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(181-183)tGc>tAc		tectonin beta-propeller repeat containing 2							75.0	62.0	66.0					14																	102843240		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102843240G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.182G>A	14.37:g.102843240G>A	ENSP00000352510:p.Cys61Tyr					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.C61Y	p.C61Y	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			2	408	+			61					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.182G>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748900	0.89753	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01287	5.05	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.60455	1.87	0.54753	D	0.999984	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.989;0.971	T	0.07616	-1.0763	10	0.49607	T	0.09	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	61;61;61	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	Y	61	ENSP00000352510:C61Y	ENSP00000352510:C61Y	C	+	2	0	TECPR2	101912993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.540000	0.82074	2.748000	0.94277	0.655000	0.94253	TGC		0.557	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	11	0	0	0	1	0	11	11				
VPS13D	55187	broad.mit.edu	37	1	12387744	12387744	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12387744C>T	ENST00000358136.3	+	36	8160	c.8030C>T	c.(8029-8031)gCg>gTg	p.A2677V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTAAGAATGCGGAACCTCTG	0.502																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8029-8031)gCg>gTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							175.0	182.0	180.0					1																	12387744		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12387744C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8030C>T	1.37:g.12387744C>T	ENSP00000350854:p.Ala2677Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	p.A2677V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	36	8160	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2677						Missense_Mutation	SNP	ENST00000358136.3	37	c.8030C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714859|5.714859	0.96830|0.96830	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.40756|.	1.02;1.02|.	5.81|5.81	5.81|5.81	0.92471|0.92471	UBA-like (1);|.	0.270105|.	0.37136|.	N|.	0.002232|.	T|T	0.78039|0.78039	0.4221|0.4221	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.878;0.963|.	D;P;P|.	0.80764|.	0.994;0.53;0.603|.	T|T	0.76260|0.76260	-0.3024|-0.3024	10|5	0.34782|.	T|.	0.22|.	.|.	20.0621|20.0621	0.97678|0.97678	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	584;2677;2677|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|W	2677|1500	ENSP00000348666:A2677V;ENSP00000350854:A2677V|.	ENSP00000348666:A2677V|.	A|R	+|+	2|1	0|2	VPS13D|VPS13D	12310331|12310331	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	7.445000|7.445000	0.80570|0.80570	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		61	124	0	0	0	1	0	61	124				
OR2C3	81472	broad.mit.edu	37	1	247694914	247694914	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247694914G>A	ENST00000366487.3	-	2	1261	c.900C>T	c.(898-900)agC>agT	p.S300S	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCGGAGGGCGCTCTTCACCT	0.522																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(898-900)agC>agT		olfactory receptor, family 2, subfamily C, member 3							75.0	67.0	70.0					1																	247694914		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694914G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.900C>T	1.37:g.247694914G>A						GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	p.S300S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1261	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	300					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.900C>T	CCDS1634.2																																																																																				0.522	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		17	32	0	0	0	1	0	17	32				
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	rs199713025		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGGCCAGCGCTGCACGCAG	0.642																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3001-3003)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)	G	CYS/ARG	7,4341		0,7,2167	30.0	33.0	32.0		3001	3.1	1.0	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG		0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62026114G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3001C>T	17.37:g.62026114G>A	ENSP00000396320:p.Arg1001Cys					SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			16	3077	-			1001					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3001C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	13	0	0	0	1	0	8	13				
LCE2B	26239	broad.mit.edu	37	1	152659385	152659385	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152659385A>G	ENST00000368780.3	+	2	120	c.66A>G	c.(64-66)ccA>ccG	p.P22P	LCE2B_ENST00000417924.2_Silent_p.P22P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	22	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTACCCCAAAATGTCCAC	0.547																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(64-66)ccA>ccG		late cornified envelope 2B							119.0	118.0	118.0					1																	152659385		2203	4300	6503	SO:0001819	synonymous_variant	26239				keratinization			g.chr1:152659385A>G	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.66A>G	1.37:g.152659385A>G						LCE2B_ENST00000417924.2_Silent_p.P22P	p.P22P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	120	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Cys-rich.|Pro-rich.		Q5TA80	Silent	SNP	ENST00000368780.3	37	c.66A>G	CCDS1020.1																																																																																				0.547	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		4	102	0	0	0	1	0	4	102				
TTC17	55761	broad.mit.edu	37	11	43513610	43513610	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:43513610C>T	ENST00000039989.4	+	23	3205	c.3191C>T	c.(3190-3192)gCc>gTc	p.A1064V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1064					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCACAATGCCAAGCTCTGG	0.498																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3190-3192)gCc>gTc		tetratricopeptide repeat domain 17							266.0	232.0	243.0					11																	43513610		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43513610C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3191C>T	11.37:g.43513610C>T	ENSP00000039989:p.Ala1064Val						p.A1064V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			23	3205	+			1064					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3191C>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.636812|5.636812	0.96693|0.96693	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000039989|ENST00000418561	T|.	0.52057|.	0.68|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70789|0.70789	0.3264|0.3264	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.67268|0.67268	-0.5713|-0.5713	10|5	0.26408|.	T|.	0.33|.	-11.6727|-11.6727	17.8183|17.8183	0.88642|0.88642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1064|.	Q96AE7|.	TTC17_HUMAN|.	V|S	1064|95	ENSP00000039989:A1064V|.	ENSP00000039989:A1064V|.	A|P	+|+	2|1	0|0	TTC17|TTC17	43470186|43470186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.506000|7.506000	0.81665|0.81665	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.498	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		63	84	0	0	0	1	0	63	84				
SEMA3D	223117	broad.mit.edu	37	7	84751069	84751069	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84751069G>A	ENST00000284136.6	-	1	182	c.139C>T	c.(139-141)Cta>Tta	p.L47L	SEMA3D_ENST00000444867.1_Silent_p.L47L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	47	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTGTAGGTTAGCTTGAGTCTT	0.299																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(139-141)Cta>Tta		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							66.0	67.0	67.0					7																	84751069		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84751069G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.139C>T	7.37:g.84751069G>A						SEMA3D_ENST00000444867.1_Silent_p.L47L	p.L47L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			1	182	-			47			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.139C>T	CCDS34676.1																																																																																				0.299	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		13	23	0	0	0	1	0	13	23				
METTL23	124512	broad.mit.edu	37	17	74729657	74729657	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74729657C>T	ENST00000341249.6	+	5	794	c.462C>T	c.(460-462)caC>caT	p.H154H	METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586200.1_Silent_p.H35H|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Silent_p.H87H|METTL23_ENST00000588822.1_Silent_p.H87H|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Silent_p.H87H|MFSD11_ENST00000588460.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	154						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						AATGTGTCCACATTCCTCTTG	0.368																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(460-462)caC>caT		methyltransferase like 23							201.0	202.0	202.0					17																	74729657		1878	4094	5972	SO:0001819	synonymous_variant	124512					integral to membrane	methyltransferase activity	g.chr17:74729657C>T		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.462C>T	17.37:g.74729657C>T						METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586752.1_Silent_p.H87H|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.H87H|METTL23_ENST00000586200.1_Silent_p.H35H|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Silent_p.H87H	p.H154H	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN			5	794	+			154					H9ZYJ0|K7EK32	Silent	SNP	ENST00000341249.6	37	c.462C>T	CCDS45787.1																																																																																				0.368	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		41	90	0	0	0	1	0	41	90				
TPTE	7179	broad.mit.edu	37	21	10934954	10934954	+	Missense_Mutation	SNP	C	C	T	rs532485045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10934954C>T	ENST00000361285.4	-	15	1168	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R242Q|TPTE_ENST00000298232.7_Missense_Mutation_p.R262Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262Q(1)|p.R262L(1)|p.R280L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTGTAGACTCGATAGTGGTT	0.333													.|||	1	0.000199681	0.0008	0.0	5008	,	,		49948	0.0		0.0	False		,,,				2504	0.0					ENST00000298232.7																			3	Substitution - Missense(3)	p.R262Q(1)|p.R262L(1)|p.R280L(1)	lung(2)|large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(784-786)cGa>cAa		transmembrane phosphatase with tensin homology							267.0	237.0	247.0					21																	10934954		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934954C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.839G>A	21.37:g.10934954C>T	ENSP00000355208:p.Arg280Gln					TPTE_ENST00000361285.4_Missense_Mutation_p.R280Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R242Q	p.R262Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1152	-			280			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.785G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.250	-0.153497	0.06585	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98602	-5.02;-5.02;-5.02	2.25	-3.65	0.04502	Phosphatase tensin type (1);	0.370901	0.27739	N	0.018043	D	0.90577	0.7046	N	0.16233	0.39	0.21841	N	0.99951	B;B;P	0.35542	0.261;0.261;0.508	B;B;B	0.26416	0.019;0.019;0.069	D	0.87346	0.2334	10	0.30854	T	0.27	-0.3035	3.1876	0.06606	0.2135:0.4408:0.0:0.3456	.	242;262;280	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	262;280;242	ENSP00000298232:R262Q;ENSP00000355208:R280Q;ENSP00000344441:R242Q	ENSP00000298232:R262Q	R	-	2	0	TPTE	9956825	1.000000	0.71417	0.017000	0.16124	0.161000	0.22273	0.533000	0.23082	-0.865000	0.04073	0.194000	0.17425	CGA		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			20	150	0	0	0	1	0	20	150				
KIF1C	10749	broad.mit.edu	37	17	4927006	4927006	+	Missense_Mutation	SNP	C	C	T	rs200230098		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4927006C>T	ENST00000320785.5	+	23	3229	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	958				SGGRGGGL -> LWGPGRGV (in Ref. 1; AAC52117). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTCTGGGGGCCGGGGCGGGGG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		11961	0.0		0.001	False		,,,				2504	0.0				Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(2872-2874)Cgg>Tgg		kinesin family member 1C							12.0	15.0	14.0					17																	4927006		2110	4140	6250	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927006C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2872C>T	17.37:g.4927006C>T	ENSP00000320821:p.Arg958Trp						p.R958W	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3229	+			958	SGGRGGGL -> LWGPGRGV (in Ref. 1; AAC52117).				D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2872C>T	CCDS11065.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.71	3.456622	0.63401	.	.	ENSG00000129250	ENST00000320785	T	0.73575	-0.76	4.93	4.93	0.64822	.	.	.	.	.	T	0.72985	0.3529	N	0.08118	0	0.38795	D	0.955071	D	0.89917	1.0	D	0.71414	0.973	T	0.78790	-0.2066	9	0.51188	T	0.08	.	15.6642	0.77213	0.0:1.0:0.0:0.0	.	958	O43896	KIF1C_HUMAN	W	958	ENSP00000320821:R958W	ENSP00000320821:R958W	R	+	1	2	KIF1C	4867730	0.584000	0.26766	1.000000	0.80357	0.980000	0.70556	0.558000	0.23469	2.558000	0.86282	0.655000	0.94253	CGG		0.687	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			21	13	0	0	0	1	0	21	13				
PKD1L1	168507	broad.mit.edu	37	7	47835606	47835606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47835606G>A	ENST00000289672.2	-	55	8386	c.8336C>T	c.(8335-8337)gCt>gTt	p.A2779V	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2779					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACCATCTCAGCCTCTTCCAA	0.398																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(8335-8337)gCt>gTt		polycystic kidney disease 1 like 1							196.0	181.0	186.0					7																	47835606		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47835606G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8336C>T	7.37:g.47835606G>A	ENSP00000289672:p.Ala2779Val					C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	p.A2779V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			55	8386	-			2779					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8336C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211362	0.22289	.	.	ENSG00000158683	ENST00000289672	T	0.18960	2.18	5.42	-0.134	0.13481	.	2.109790	0.02921	U	0.138002	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.24548	-1.0157	10	0.37606	T	0.19	-1.86	5.3627	0.16098	0.2626:0.2142:0.5232:0.0	.	2779	Q8TDX9	PK1L1_HUMAN	V	2779	ENSP00000289672:A2779V	ENSP00000289672:A2779V	A	-	2	0	PKD1L1	47802131	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.257000	0.08745	0.259000	0.21709	-0.145000	0.13849	GCT		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		11	61	0	0	0	1	0	11	61				
POLR2A	5430	broad.mit.edu	37	17	7415850	7415850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7415850C>T	ENST00000322644.6	+	27	4946	c.4547C>T	c.(4546-4548)gCc>gTc	p.A1516V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1516					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATCTCTCCTGCCATGACACCT	0.572																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4546-4548)gCc>gTc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							58.0	53.0	55.0					17																	7415850		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415850C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4547C>T	17.37:g.7415850C>T	ENSP00000314949:p.Ala1516Val						p.A1516V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4946	+		Prostate(122;0.173)	1516					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4547C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153820	0.57259	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.71341	-0.56	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.58104	0.2099	L	0.35487	1.065	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	T	0.53732	-0.8397	10	0.20046	T	0.44	-15.7911	12.8076	0.57622	0.0:0.8341:0.1659:0.0	.	1516	P24928	RPB1_HUMAN	V	1472;415;1516	ENSP00000314949:A1516V	ENSP00000314949:A1516V	A	+	2	0	SLC35G6	7356574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.211000	0.65219	2.389000	0.81357	0.456000	0.33151	GCC		0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		20	28	0	0	0	1	0	20	28				
LGMN	5641	broad.mit.edu	37	14	93182559	93182559	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93182559G>A	ENST00000393218.2	-	6	663	c.326C>T	c.(325-327)aCc>aTc	p.T109I	LGMN_ENST00000557434.1_Missense_Mutation_p.T109I|LGMN_ENST00000555699.1_Missense_Mutation_p.T109I|LGMN_ENST00000334869.4_Missense_Mutation_p.T109I	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	109					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTTTGTGGGGTAACATCCTA	0.507																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(325-327)aCc>aTc		legumain							122.0	109.0	114.0					14																	93182559		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93182559G>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.326C>T	14.37:g.93182559G>A	ENSP00000376911:p.Thr109Ile					LGMN_ENST00000555699.1_Missense_Mutation_p.T109I|LGMN_ENST00000334869.4_Missense_Mutation_p.T109I|LGMN_ENST00000557434.1_Missense_Mutation_p.T109I	p.T109I	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	663	-		all_cancers(154;0.0706)	109					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.326C>T	CCDS9904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478641|3.478641	0.63849|0.63849	.|.	.|.	ENSG00000100600|ENSG00000100600	ENST00000555169|ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802	.|T;T;T;T;T	.|0.55052	.|0.55;0.54;0.58;0.54;0.61	5.51|5.51	4.61|4.61	0.57282|0.57282	.|.	.|0.043164	.|0.85682	.|D	.|0.000000	T|T	0.82024|0.82024	0.4947|0.4947	H|H	0.97516|0.97516	4.02|4.02	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.993;0.994;0.999	.|D;D;D	.|0.79108	.|0.992;0.974;0.992	D|D	0.89023|0.89023	0.3436|0.3436	5|10	.|0.87932	.|D	.|0	-37.803|-37.803	15.6788|15.6788	0.77352|0.77352	0.0:0.0:0.8616:0.1384|0.0:0.0:0.8616:0.1384	.|.	.|109;109;109	.|Q99538;Q86TV2;Q86TV3	.|LGMN_HUMAN;.;.	S|I	30|109;109;109;109;109;109;86;74;100	.|ENSP00000451861:T109I;ENSP00000334052:T109I;ENSP00000452572:T109I;ENSP00000376911:T109I;ENSP00000450854:T100I	.|ENSP00000262004:T109I	P|T	-|-	1|2	0|0	LGMN|LGMN	92252312|92252312	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.459000|0.459000	0.32528|0.32528	7.152000|7.152000	0.77419|0.77419	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.507	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		41	73	0	0	0	1	0	41	73				
STKLD1	169436	broad.mit.edu	37	9	136259426	136259426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136259426C>T	ENST00000371957.3	+	8	699	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R198C(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGACCCCTTTCGTAAGTCCTG	0.567																																						ENST00000371957.3																			1	Substitution - Missense(1)	p.R198C(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(592-594)Cgt>Tgt		chromosome 9 open reading frame 96							214.0	181.0	192.0					9																	136259426		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136259426C>T																												ENST00000371957.3:c.592C>T	9.37:g.136259426C>T	ENSP00000361025:p.Arg198Cys					C9orf96_ENST00000371955.1_5'UTR	p.R198C	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	8	699	+			198			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.592C>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896782	0.17686	.	.	ENSG00000198870	ENST00000371957	T	0.65178	-0.14	4.63	1.62	0.23740	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.203520	0.05947	N	0.638099	T	0.45657	0.1353	N	0.21508	0.67	0.09310	N	0.999998	B	0.11235	0.004	B	0.01281	0.0	T	0.29852	-0.9998	10	0.37606	T	0.19	-2.6209	4.354	0.11169	0.1767:0.6235:0.0:0.1998	.	198	Q8NE28	SGK71_HUMAN	C	198	ENSP00000361025:R198C	ENSP00000361025:R198C	R	+	1	0	C9orf96	135249247	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	0.342000	0.19926	0.366000	0.24427	0.456000	0.33151	CGT		0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			38	68	0	0	0	1	0	38	68				
DCPS	28960	broad.mit.edu	37	11	126215288	126215288	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126215288T>C	ENST00000263579.4	+	6	1123	c.794T>C	c.(793-795)gTa>gCa	p.V265A	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	265					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CATCTGCGAGTATACCTGCAC	0.662																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(793-795)gTa>gCa		decapping enzyme, scavenger							210.0	136.0	161.0					11																	126215288		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215288T>C	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.794T>C	11.37:g.126215288T>C	ENSP00000263579:p.Val265Ala					DCPS_ENST00000530860.1_3'UTR	p.V265A	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1123	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	265					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.794T>C	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721896	0.68959	.	.	ENSG00000110063	ENST00000263579	D	0.95756	-3.8	5.3	5.3	0.74995	Histidine triad, conserved site (1);Histidine triad-like motif (1);	0.119371	0.56097	D	0.000025	D	0.92945	0.7755	L	0.39245	1.2	0.58432	D	0.999992	P	0.41265	0.744	B	0.41894	0.369	D	0.91952	0.5572	10	0.28530	T	0.3	-25.1417	15.3121	0.74042	0.0:0.0:0.0:1.0	.	265	Q96C86	DCPS_HUMAN	A	265	ENSP00000263579:V265A	ENSP00000263579:V265A	V	+	2	0	DCPS	125720498	1.000000	0.71417	0.992000	0.48379	0.354000	0.29330	7.698000	0.84413	2.016000	0.59253	0.529000	0.55759	GTA		0.662	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		12	38	0	0	0	1	0	12	38				
ASAP1	50807	broad.mit.edu	37	8	131092213	131092213	+	Silent	SNP	G	G	A	rs370789875		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131092213G>A	ENST00000518721.1	-	26	2804	c.2577C>T	c.(2575-2577)aaC>aaT	p.N859N	ASAP1_ENST00000357668.1_Silent_p.N859N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	859	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GACCCCCATCGTTACCTACAA	0.468																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2575-2577)aaC>aaT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1		G		0,4406		0,0,2203	167.0	154.0	158.0		2577	-0.6	1.0	8		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASAP1	NM_018482.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		859/1130	131092213	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131092213G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2577C>T	8.37:g.131092213G>A						ASAP1_ENST00000518721.1_Silent_p.N859N	p.N859N			Q9ULH1	ASAP1_HUMAN			25	2604	-			859			Pro-rich.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.2577C>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061676	0.19987	0.0	1.16E-4	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.49	-0.627	0.11541	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1418	0.36908	0.5407:0.0:0.4593:0.0	.	.	.	.	X	680;216	.	.	R	-	1	2	ASAP1	131161395	0.871000	0.30034	0.998000	0.56505	0.966000	0.64601	-0.311000	0.08124	0.030000	0.15379	-0.136000	0.14681	CGA		0.468	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		39	64	0	0	0	1	0	39	64				
DHX30	22907	broad.mit.edu	37	3	47891423	47891423	+	Missense_Mutation	SNP	G	G	A	rs200969824		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47891423G>A	ENST00000445061.1	+	22	3805	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	DHX30_ENST00000348968.4_Missense_Mutation_p.R1105H|DHX30_ENST00000446256.2_Missense_Mutation_p.R1094H|DHX30_ENST00000457607.1_Missense_Mutation_p.R1161H|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1133						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTCGCGTACCGTGCGG	0.677											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15369	0.001		0.0	False		,,,				2504	0.0					ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3280-3282)cGt>cAt		DEAH (Asp-Glu-Ala-His) box helicase 30							31.0	32.0	32.0					3																	47891423		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891423G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3398G>A	3.37:g.47891423G>A	ENSP00000405620:p.Arg1133His		OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Missense_Mutation_p.R1133H|DHX30_ENST00000348968.4_Missense_Mutation_p.R1105H|DHX30_ENST00000457607.1_Missense_Mutation_p.R1161H	p.R1094H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3853	+			1133					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3281G>A	CCDS2759.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.57	2.275765	0.40294	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03607	3.87;3.87;3.87;3.87	5.0	1.73	0.24493	.	0.442993	0.24861	N	0.035020	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	P;D	0.56968	0.865;0.978	B;P	0.53809	0.124;0.735	T	0.40001	-0.9586	10	0.39692	T	0.17	.	8.5962	0.33716	0.3646:0.0:0.6354:0.0	.	1133;1094	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	1094;1133;1105;1161	ENSP00000392601:R1094H;ENSP00000405620:R1133H;ENSP00000343442:R1105H;ENSP00000394682:R1161H	ENSP00000343442:R1105H	R	+	2	0	DHX30	47866427	0.972000	0.33761	0.047000	0.18901	0.606000	0.37113	2.985000	0.49362	0.513000	0.28278	0.462000	0.41574	CGT		0.677	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		7	23	0	0	0	1	0	7	23				
HERC2	8924	broad.mit.edu	37	15	28483803	28483803	+	Silent	SNP	C	C	T	rs567072767		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28483803C>T	ENST00000261609.7	-	24	3801	c.3693G>A	c.(3691-3693)aaG>aaA	p.K1231K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATCATACACCTTCCCGTCAA	0.373																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3691-3693)aaG>aaA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							73.0	67.0	69.0					15																	28483803		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483803C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3693G>A	15.37:g.28483803C>T							p.K1231K	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	24	3801	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1231			Cytochrome b5 heme-binding.			Silent	SNP	ENST00000261609.7	37	c.3693G>A	CCDS10021.1																																																																																				0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	45	0	0	0	1	0	3	45				
GJB6	10804	broad.mit.edu	37	13	20797027	20797027	+	Missense_Mutation	SNP	G	G	A	rs200881320		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20797027G>A	ENST00000356192.6	-	5	1213	c.593C>T	c.(592-594)gCg>gTg	p.A198V	GJB6_ENST00000241124.6_Missense_Mutation_p.A198V|GJB6_ENST00000400065.3_Missense_Mutation_p.A198V|GJB6_ENST00000400066.3_Missense_Mutation_p.A198V	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	198					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AATCACAGACGCAGAAATCAT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20854	0.001		0.0	False		,,,				2504	0.0					ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(592-594)gCg>gTg		gap junction protein, beta 6, 30kDa							92.0	80.0	84.0					13																	20797027		2203	4300	6503	SO:0001583	missense	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797027G>A	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.593C>T	13.37:g.20797027G>A	ENSP00000348521:p.Ala198Val					GJB6_ENST00000400066.3_Missense_Mutation_p.A198V|GJB6_ENST00000400065.3_Missense_Mutation_p.A198V|GJB6_ENST00000241124.6_Missense_Mutation_p.A198V	p.A198V	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	1213	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	198					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Missense_Mutation	SNP	ENST00000356192.6	37	c.593C>T	CCDS9291.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.073	-1.198030	0.01594	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.45	5.45	0.79879	Gap junction protein, cysteine-rich domain (1);	0.103882	0.43110	D	0.000618	T	0.78972	0.4368	N	0.00811	-1.165	0.35421	D	0.793222	B	0.16166	0.016	B	0.15870	0.014	T	0.77485	-0.2570	10	0.02654	T	1	.	10.4386	0.44450	0.1197:0.0:0.8803:0.0	.	198	O95452	CXB6_HUMAN	V	198	ENSP00000241124:A198V;ENSP00000382938:A198V;ENSP00000382939:A198V;ENSP00000348521:A198V	ENSP00000241124:A198V	A	-	2	0	GJB6	19695027	0.972000	0.33761	0.705000	0.30386	0.016000	0.09150	3.227000	0.51262	2.547000	0.85894	0.655000	0.94253	GCG		0.448	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			19	28	0	0	0	1	0	19	28				
WDR17	116966	broad.mit.edu	37	4	177069450	177069450	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:177069450G>A	ENST00000280190.4	+	14	2089	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	WDR17_ENST00000507824.2_Missense_Mutation_p.V628M|WDR17_ENST00000393643.2_Missense_Mutation_p.V621M|WDR17_ENST00000508596.1_Missense_Mutation_p.V621M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	645										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGAACTTGTGTGGATACTGT	0.373																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1861-1863)Gtg>Atg		WD repeat domain 17							114.0	110.0	111.0					4																	177069450		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069450G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1933G>A	4.37:g.177069450G>A	ENSP00000280190:p.Val645Met					WDR17_ENST00000280190.4_Missense_Mutation_p.V645M|WDR17_ENST00000507824.2_Missense_Mutation_p.V628M|WDR17_ENST00000508596.1_Missense_Mutation_p.V621M	p.V621M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	2113	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	645					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1861G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595374	0.46318	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.06294	3.52;3.32;3.52	5.77	-6.85	0.01681	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.084031	0.48767	D	0.000178	T	0.05960	0.0155	L	0.42008	1.315	0.21445	N	0.999684	B;B	0.28971	0.076;0.229	B;B	0.35813	0.211;0.211	T	0.20840	-1.0263	10	0.62326	D	0.03	-2.8346	10.9169	0.47142	0.0:0.5026:0.1955:0.3019	.	621;645	E7EQX0;Q8IZU2	.;WDR17_HUMAN	M	621;621;645;628	ENSP00000422763:V621M;ENSP00000377258:V621M;ENSP00000280190:V645M	ENSP00000280190:V645M	V	+	1	0	WDR17	177306444	0.027000	0.19231	0.649000	0.29536	0.873000	0.50193	-0.424000	0.07025	-1.053000	0.03218	-1.059000	0.02297	GTG		0.373	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			29	51	0	0	0	1	0	29	51				
TTLL9	164395	broad.mit.edu	37	20	30507689	30507689	+	Missense_Mutation	SNP	G	G	A	rs200968357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30507689G>A	ENST00000375938.4	+	7	780	c.527G>A	c.(526-528)gGc>gAc	p.G176D	TTLL9_ENST00000310998.4_Missense_Mutation_p.G126D|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.G158D|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.G176D			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	176	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAAGGGAAAGGCATCTTCCTC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19248	0.001		0.0	False		,,,				2504	0.0					ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(526-528)gGc>gAc		tubulin tyrosine ligase-like family, member 9							93.0	97.0	96.0					20																	30507689		1970	4149	6119	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30507689G>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.527G>A	20.37:g.30507689G>A	ENSP00000365105:p.Gly176Asp					TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.G158D|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.G176D|TTLL9_ENST00000310998.4_Missense_Mutation_p.G126D	p.G176D			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		7	780	+			176			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.527G>A	CCDS42863.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.4	4.411718	0.83340	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375934	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.53	4.53	0.55603	.	0.059364	0.64402	D	0.000002	T	0.56352	0.1979	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69030	-0.5253	10	0.87932	D	0	.	15.996	0.80243	0.0:0.0:1.0:0.0	.	176	Q3SXZ7	TTLL9_HUMAN	D	176;176;126;121;158	ENSP00000365105:G176D;ENSP00000442515:G176D;ENSP00000308980:G126D;ENSP00000365100:G158D	ENSP00000308980:G126D	G	+	2	0	TTLL9	29971350	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.978000	0.88095	2.367000	0.80283	0.462000	0.41574	GGC		0.622	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		13	27	0	0	0	1	0	13	27				
PLXNB1	5364	broad.mit.edu	37	3	48457572	48457572	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48457572G>A	ENST00000358536.4	-	18	3754	c.3485C>T	c.(3484-3486)cCg>cTg	p.P1162L	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P979L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P979L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1162L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1162	IPT/TIG 2.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGACCTTCGGATCCTGTGG	0.647																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3484-3486)cCg>cTg		plexin B1							20.0	21.0	20.0					3																	48457572		2195	4296	6491	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48457572G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3485C>T	3.37:g.48457572G>A	ENSP00000351338:p.Pro1162Leu					PLXNB1_ENST00000358459.4_Missense_Mutation_p.P979L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1162L|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P979L	p.P1162L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	18	3754	-			1162			IPT/TIG 2.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3485C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712158	0.89112	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.54	4.66	0.58398	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.278717	0.34435	N	0.003970	D	0.92691	0.7677	H	0.94264	3.515	0.80722	D	1	D;D	0.59357	0.985;0.962	P;P	0.54460	0.753;0.534	D	0.94270	0.7510	10	0.62326	D	0.03	.	15.3718	0.74570	0.0:0.14:0.8599:0.0	.	1162;979	O43157;O43157-2	PLXB1_HUMAN;.	L	1162;979;1162;979	ENSP00000296440:P1162L;ENSP00000351242:P979L;ENSP00000351338:P1162L;ENSP00000414199:P979L	ENSP00000296440:P1162L	P	-	2	0	PLXNB1	48432576	1.000000	0.71417	0.285000	0.24819	0.272000	0.26649	8.643000	0.91040	1.306000	0.44926	0.313000	0.20887	CCG		0.647	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	6	0	0	0	1	0	3	6				
CEP85	64793	broad.mit.edu	37	1	26582334	26582334	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26582334G>A	ENST00000252992.4	+	4	1012	c.881G>A	c.(880-882)cGt>cAt	p.R294H	CEP85_ENST00000451429.2_Missense_Mutation_p.R243H	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	294						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GAATTGATTCGTTTACAGATG	0.463																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(880-882)cGt>cAt		centrosomal protein 85kDa							62.0	63.0	63.0					1																	26582334		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26582334G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.881G>A	1.37:g.26582334G>A	ENSP00000252992:p.Arg294His					CEP85_ENST00000451429.2_Missense_Mutation_p.R243H	p.R294H	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			4	1012	+			294					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.881G>A	CCDS277.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811475	0.90707	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.11821	2.74;2.74	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.03335	-1.1047	10	0.87932	D	0	-10.7327	18.5737	0.91147	0.0:0.0:1.0:0.0	.	243;294;294	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	H	243;294	ENSP00000417002:R243H;ENSP00000252992:R294H	ENSP00000252992:R294H	R	+	2	0	CEP85	26454921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.605000	0.90883	2.824000	0.97209	0.655000	0.94253	CGT		0.463	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		23	29	0	0	0	1	0	23	29				
IL19	29949	broad.mit.edu	37	1	206972299	206972299	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206972299G>A	ENST00000340758.2	+	1	85	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCACACATGTGCACACACATA	0.527																																						ENST00000340758.2																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(58-60)gtG>gtA		interleukin 19							181.0	147.0	159.0					1																	206972299		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:206972299G>A	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.60G>A	1.37:g.206972299G>A							p.V20V	NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	85	+			0					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000340758.2	37	c.60G>A	CCDS1468.1																																																																																				0.527	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		19	29	0	0	0	1	0	19	29				
TPRA1	131601	broad.mit.edu	37	3	127298945	127298945	+	Silent	SNP	C	C	T	rs528772861		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127298945C>T	ENST00000355552.3	-	2	421	c.45G>A	c.(43-45)gcG>gcA	p.A15A	TPRA1_ENST00000450633.2_Silent_p.A15A|TPRA1_ENST00000489960.1_Silent_p.A15A|TPRA1_ENST00000296210.7_Silent_p.A15A	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	15					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GTGGGGGTAGCGCTGTGCTCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17630	0.0		0.0	False		,,,				2504	0.001					ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(43-45)gcG>gcA		transmembrane protein, adipocyte asscociated 1							107.0	84.0	92.0					3																	127298945		2203	4300	6503	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127298945C>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.45G>A	3.37:g.127298945C>T						TPRA1_ENST00000296210.7_Silent_p.A15A|TPRA1_ENST00000450633.2_Silent_p.A15A|TPRA1_ENST00000489960.1_Silent_p.A15A	p.A15A	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			2	421	-			15					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.45G>A	CCDS3042.1																																																																																				0.642	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		7	18	0	0	0	1	0	7	18				
AGFG1	3267	broad.mit.edu	37	2	228399714	228399714	+	Missense_Mutation	SNP	C	C	T	rs142955065	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228399714C>T	ENST00000310078.8	+	8	1438	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	AGFG1_ENST00000409979.2_Missense_Mutation_p.A417V|AGFG1_ENST00000373671.3_Missense_Mutation_p.A353V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A372V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A393V	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	393					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCCAGTAATGCGTATACTTCC	0.418																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1177-1179)gCg>gTg		ArfGAP with FG repeats 1		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	133.0	121.0	125.0		1250,1178,1058,1178	5.9	1.0	2	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	AGFG1	NM_001135187.1,NM_001135188.1,NM_001135189.1,NM_004504.4	64,64,64,64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	417/585,393/561,353/523,393/563	228399714	3,13003	2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228399714C>T		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.1178C>T	2.37:g.228399714C>T	ENSP00000312059:p.Ala393Val					AGFG1_ENST00000373671.3_Missense_Mutation_p.A353V|AGFG1_ENST00000409171.1_Missense_Mutation_p.A393V|AGFG1_ENST00000409315.1_Missense_Mutation_p.A372V|AGFG1_ENST00000409979.2_Missense_Mutation_p.A417V	p.A393V	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			8	1438	+			393					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1178C>T	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072671	0.55646	0.0	3.49E-4	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	T;T;T;T;T	0.24908	1.91;1.83;1.89;1.91;1.83	5.9	5.9	0.94986	.	0.112200	0.64402	D	0.000009	T	0.15912	0.0383	N	0.19112	0.55	0.44477	D	0.997413	B;B;B;B	0.33379	0.41;0.009;0.112;0.014	B;B;B;B	0.17979	0.02;0.008;0.005;0.003	T	0.09100	-1.0690	10	0.15499	T	0.54	.	18.4625	0.90745	0.0:1.0:0.0:0.0	.	353;393;417;393	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	V	417;402;393;372;353;393	ENSP00000387282:A417V;ENSP00000312059:A393V;ENSP00000387154:A372V;ENSP00000362775:A353V;ENSP00000387218:A393V	ENSP00000312059:A393V	A	+	2	0	AGFG1	228107958	0.996000	0.38824	0.970000	0.41538	0.974000	0.67602	3.736000	0.55052	2.805000	0.96524	0.650000	0.86243	GCG		0.418	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		20	28	0	0	0	1	0	20	28				
MUS81	80198	broad.mit.edu	37	11	65633303	65633303	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65633303C>A	ENST00000308110.4	+	15	1876	c.1527C>A	c.(1525-1527)gcC>gcA	p.A509A	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Silent_p.A434A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	509					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCTATGATGCCTGTGCCACCC	0.632								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1525-1527)gcC>gcA	Homologous recombination	MUS81 structure-specific endonuclease subunit							85.0	90.0	88.0					11																	65633303		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633303C>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1527C>A	11.37:g.65633303C>A						MUS81_ENST00000533035.1_Silent_p.A434A	p.A509A	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1876	+			509					Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.1527C>A	CCDS8115.1																																																																																				0.632	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		20	38	1	0	1.55795e-14	1	1.69983e-14	20	38				
RGL3	57139	broad.mit.edu	37	19	11527598	11527598	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11527598C>T	ENST00000380456.3	-	3	346	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	RGL3_ENST00000393423.3_Missense_Mutation_p.A95T	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	95	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCAGGAAGGCGGGCATGAAG	0.652																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(283-285)Gcc>Acc		ral guanine nucleotide dissociation stimulator-like 3							80.0	79.0	79.0					19																	11527598		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527598C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.283G>A	19.37:g.11527598C>T	ENSP00000369823:p.Ala95Thr					RGL3_ENST00000393423.3_Missense_Mutation_p.A95T	p.A95T	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			3	346	-			95			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.283G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243182	0.58995	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.43688	0.94;0.94	4.5	4.5	0.54988	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.264357	0.37393	N	0.002112	T	0.44435	0.1293	L	0.28274	0.84	0.32048	N	0.597268	D;P;P	0.69078	0.997;0.801;0.911	P;P;B	0.62382	0.901;0.49;0.28	T	0.53457	-0.8436	10	0.56958	D	0.05	.	8.6019	0.33749	0.0:0.892:0.0:0.108	.	95;95;95	B4DPC9;Q3MIN7;B5ME84	.;RGL3_HUMAN;.	T	95	ENSP00000377075:A95T;ENSP00000369823:A95T	ENSP00000369823:A95T	A	-	1	0	RGL3	11388598	0.501000	0.26099	0.936000	0.37596	0.303000	0.27691	0.750000	0.26334	2.046000	0.60703	0.561000	0.74099	GCC		0.652	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		8	29	0	0	0	1	0	8	29				
TPR	7175	broad.mit.edu	37	1	186332113	186332113	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186332113C>T	ENST00000367478.4	-	6	848	c.552G>A	c.(550-552)gaG>gaA	p.E184E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	184					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTTTCTTGCTCCAAGCGTT	0.348			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(550-552)gaG>gaA		translocated promoter region, nuclear basket protein							77.0	65.0	68.0					1																	186332113		1808	4074	5882	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186332113C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.552G>A	1.37:g.186332113C>T						TPR_ENST00000474852.1_5'UTR	p.E184E	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	6	848	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	184					Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.552G>A	CCDS41446.1																																																																																				0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		12	18	0	0	0	1	0	12	18				
KLKB1	3818	broad.mit.edu	37	4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	rs369481447		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502																																						ENST00000264690.6																			2	Substitution - Missense(2)	p.R390H(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1168-1170)cGc>cAc		kallikrein B, plasma (Fletcher factor) 1		G	HIS/ARG	0,4406		0,0,2203	103.0	99.0	100.0		1169	5.6	1.0	4		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLKB1	NM_000892.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	390/639	187173195	1,13005	2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173195G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1169G>A	4.37:g.187173195G>A	ENSP00000264690:p.Arg390His					KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1356	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1169G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.4|22.4	4.284263|4.284263	0.80803|0.80803	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.94966	.|-3.57;-3.57	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.|0.188357	.|0.36167	.|N	.|0.002753	D|D	0.97433|0.97433	0.9160|0.9160	M|M	0.81341|0.81341	2.54|2.54	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.983;0.998	D|D	0.97628|0.97628	1.0140|1.0140	5|10	.|0.87932	.|D	.|0	.|.	19.9477|19.9477	0.97189|0.97189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|352;390;390	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	438|390;390;352	.|ENSP00000264690:R390H;ENSP00000424469:R390H	.|ENSP00000264690:R390H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187410189|187410189	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.177000|0.177000	0.22998|0.22998	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	61	0	0	0	1	0	6	61				
GPR158	57512	broad.mit.edu	37	10	25886785	25886785	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:25886785C>T	ENST00000376351.3	+	11	2589	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	744					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R744W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAGAAAAAGCGGTGCTCGAA	0.498																																						ENST00000376351.3																			1	Substitution - Missense(1)	p.R744W(1)	lung(1)	breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2230-2232)Cgg>Tgg		G protein-coupled receptor 158							112.0	126.0	121.0					10																	25886785		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886785C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2230C>T	10.37:g.25886785C>T	ENSP00000365529:p.Arg744Trp					GPR158_ENST00000490549.1_3'UTR	p.R744W	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2589	+			744					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2230C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183544	0.78677	.	.	ENSG00000151025	ENST00000376351	T	0.66460	-0.21	5.54	4.58	0.56647	.	0.000000	0.64402	D	0.000013	T	0.75532	0.3862	M	0.75615	2.305	0.45025	D	0.998047	D	0.61080	0.989	P	0.56042	0.79	T	0.78723	-0.2093	10	0.87932	D	0	.	11.7345	0.51757	0.3467:0.6533:0.0:0.0	.	744	Q5T848	GP158_HUMAN	W	744	ENSP00000365529:R744W	ENSP00000365529:R744W	R	+	1	2	GPR158	25926791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.330000	0.43885	2.606000	0.88127	0.650000	0.86243	CGG		0.498	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		35	50	0	0	0	1	0	35	50				
RBM5	10181	broad.mit.edu	37	3	50143074	50143074	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50143074C>T	ENST00000347869.3	+	10	962	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	263	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATAACATCCGCCTCATAAA	0.473																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(787-789)Cgc>Tgc		RNA binding motif protein 5							125.0	110.0	115.0					3																	50143074		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50143074C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.787C>T	3.37:g.50143074C>T	ENSP00000343054:p.Arg263Cys						p.R263C	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	962	+			263			RRM 2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.787C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707209	0.96821	.	.	ENSG00000003756	ENST00000347869;ENST00000543047	T	0.09538	2.97	6.16	6.16	0.99307	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.35475	-0.9787	10	0.56958	D	0.05	-9.603	20.8598	0.99761	0.0:1.0:0.0:0.0	.	263	P52756	RBM5_HUMAN	C	263;262	ENSP00000343054:R263C	ENSP00000343054:R263C	R	+	1	0	RBM5	50118078	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.711000	0.84669	2.937000	0.99478	0.650000	0.86243	CGC		0.473	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		6	92	0	0	0	1	0	6	92				
PPP3CB	5532	broad.mit.edu	37	10	75234727	75234727	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75234727C>T	ENST00000360663.5	-	4	584	c.473G>A	c.(472-474)gGc>gAc	p.G158D	PPP3CB_ENST00000545874.1_Missense_Mutation_p.G72D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G158D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G176D			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	158	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTCATGGTTGCCTCTCAGAAG	0.348																																						ENST00000360663.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(472-474)gGc>gAc		protein phosphatase 3, catalytic subunit, beta isozyme							92.0	95.0	94.0					10																	75234727		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75234727C>T	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.473G>A	10.37:g.75234727C>T	ENSP00000353881:p.Gly158Asp					PPP3CB_ENST00000394829.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000545874.1_Missense_Mutation_p.G72D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G158D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G158D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G176D	p.G158D			P16298	PP2BB_HUMAN			4	584	-	Prostate(51;0.0119)		158			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.473G>A	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826945	0.90955	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.57	4.57	0.56435	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000005	D	0.96914	0.8992	H	0.99985	5.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	17.6972	0.88285	0.0:1.0:0.0:0.0	.	176;72;158;158;158	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	D	158;158;158;158;72;176	ENSP00000353881:G158D;ENSP00000378306:G158D;ENSP00000378305:G158D;ENSP00000343147:G158D;ENSP00000439876:G72D;ENSP00000378299:G176D	ENSP00000343147:G158D	G	-	2	0	PPP3CB	74904733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.261000	0.74972	0.650000	0.86243	GGC		0.348	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		14	25	0	0	0	1	0	14	25				
CCDC158	339965	broad.mit.edu	37	4	77290768	77290768	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77290768T>C	ENST00000388914.3	-	10	1310	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	386										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCCTTTTGTGTAGATCAGCCT	0.418																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1156-1158)ctA>ctG		coiled-coil domain containing 158							76.0	75.0	75.0					4																	77290768		1936	4134	6070	SO:0001819	synonymous_variant	339965							g.chr4:77290768T>C	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1158A>G	4.37:g.77290768T>C							p.L386L	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			10	1310	-			386					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1158A>G	CCDS43242.1																																																																																				0.418	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		10	36	0	0	0	1	0	10	36				
USP28	57646	broad.mit.edu	37	11	113704168	113704168	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113704168C>T	ENST00000003302.4	-	7	801	c.733G>A	c.(733-735)Gca>Aca	p.A245T	USP28_ENST00000537706.1_Missense_Mutation_p.A245T|USP28_ENST00000260188.5_Missense_Mutation_p.A245T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Missense_Mutation_p.A120T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	245	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATCGGAATGCTCCCTTTAAT	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(733-735)Gca>Aca		ubiquitin specific peptidase 28							132.0	131.0	131.0					11																	113704168		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704168C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.733G>A	11.37:g.113704168C>T	ENSP00000003302:p.Ala245Thr					USP28_ENST00000260188.5_Missense_Mutation_p.A245T|USP28_ENST00000545540.1_Missense_Mutation_p.A120T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.A245T	p.A245T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	801	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	245					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.733G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603968	0.87157	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.74106	1.54;1.54;1.54;0.87;-0.81;3.39	4.73	4.73	0.59995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83991	0.5374	M	0.70595	2.14	0.58432	D	0.999999	D;P;P;P	0.60575	0.988;0.812;0.78;0.835	D;B;P;P	0.67382	0.951;0.398;0.474;0.728	T	0.81193	-0.1044	10	0.23302	T	0.38	-13.8713	17.9653	0.89098	0.0:1.0:0.0:0.0	.	245;120;245;245	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	T	245;245;120;9;245;144	ENSP00000003302:A245T;ENSP00000260188:A245T;ENSP00000444991:A120T;ENSP00000442257:A9T;ENSP00000445743:A245T;ENSP00000440799:A144T	ENSP00000003302:A245T	A	-	1	0	USP28	113209378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.488000	0.83962	0.553000	0.69018	GCA		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			35	57	0	0	0	1	0	35	57				
GMIP	51291	broad.mit.edu	37	19	19746242	19746242	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19746242G>A	ENST00000203556.4	-	15	1679	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	GMIP_ENST00000445806.2_Silent_p.S485S|GMIP_ENST00000587238.1_Silent_p.S488S|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	514					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCCGTCCCGCTGACCATGA	0.612																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1540-1542)agC>agT		GEM interacting protein							114.0	101.0	105.0					19																	19746242		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746242G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1542C>T	19.37:g.19746242G>A						GMIP_ENST00000587238.1_Silent_p.S488S|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.S485S	p.S514S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			15	1679	-			514					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.1542C>T	CCDS12408.1																																																																																				0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	26	0	0	0	1	0	18	26				
RAP1GAP	5909	broad.mit.edu	37	1	21924989	21924989	+	Missense_Mutation	SNP	C	C	T	rs180790213		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21924989C>T	ENST00000374765.4	-	22	1983	c.1783G>A	c.(1783-1785)Gtg>Atg	p.V595M	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V680M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V659M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.V621M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V626M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	595					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GAGGATGACACGCTCTCCTGG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.0					ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1861-1863)Gtg>Atg		RAP1 GTPase activating protein		C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	68.0	60.0	63.0		1783,1975,1861	3.7	0.4	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RAP1GAP	NM_002885.2,NM_001145658.1,NM_001145657.1	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	595/664,659/728,621/682	21924989	1,13005	2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21924989C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1783G>A	1.37:g.21924989C>T	ENSP00000363897:p.Val595Met					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V626M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V680M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V659M|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.V595M	p.V621M	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	24	2163	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	595					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1861G>A	CCDS218.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	3.314|3.314	-0.140262|-0.140262	0.06669|0.06669	0.0|0.0	1.16E-4|1.16E-4	ENSG00000076864|ENSG00000076864	ENST00000374758|ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763	.|D;D;D;D	.|0.89681	.|-2.49;-2.49;-2.55;-2.49	4.72|4.72	3.74|3.74	0.42951|0.42951	.|.	.|1.064520	.|0.07399	.|N	.|0.890511	D|D	0.84220|0.84220	0.5424|0.5424	L|L	0.40543|0.40543	1.245|1.245	0.23869|0.23869	N|N	0.996614|0.996614	.|B;B;B;B	.|0.18610	.|0.01;0.007;0.029;0.007	.|B;B;B;B	.|0.15870	.|0.009;0.003;0.014;0.003	T|T	0.68599|0.68599	-0.5366|-0.5366	5|9	.|.	.|.	.|.	-0.179|-0.179	9.6298|9.6298	0.39772|0.39772	0.0:0.884:0.0:0.116|0.0:0.884:0.0:0.116	.|.	.|621;595;625;595	.|P47736-2;P47736;P47736-3;Q7Z5S8	.|.;RPGP1_HUMAN;.;.	H|M	678|659;626;621;595;625	.|ENSP00000290101:V659M;ENSP00000363893:V626M;ENSP00000441661:V621M;ENSP00000363897:V595M	.|.	R|V	-|-	2|1	0|0	RAP1GAP|RAP1GAP	21797576|21797576	0.881000|0.881000	0.30235|0.30235	0.355000|0.355000	0.25773|0.25773	0.069000|0.069000	0.16628|0.16628	1.828000|1.828000	0.39111|0.39111	0.868000|0.868000	0.35678|0.35678	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.622	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		6	30	0	0	0	1	0	6	30				
PPEF2	5470	broad.mit.edu	37	4	76805865	76805865	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76805865C>T	ENST00000286719.7	-	8	984	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	210	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCGATCCACAAAGTCACCG	0.453																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(628-630)Gtg>Atg		protein phosphatase, EF-hand calcium binding domain 2							217.0	202.0	207.0					4																	76805865		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76805865C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.628G>A	4.37:g.76805865C>T	ENSP00000286719:p.Val210Met						p.V210M	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	984	-			210			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.628G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514655	0.85389	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.12984	2.63	4.84	4.84	0.62591	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	H	0.98089	4.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72503	-0.4273	10	0.87932	D	0	-8.6085	15.5116	0.75786	0.0:1.0:0.0:0.0	.	210;210	O14830-2;O14830	.;PPE2_HUMAN	M	210	ENSP00000286719:V210M	ENSP00000286719:V210M	V	-	1	0	PPEF2	77024889	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.000000	0.76290	2.512000	0.84698	0.655000	0.94253	GTG		0.453	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		35	166	0	0	0	1	0	35	166				
SLC6A19	340024	broad.mit.edu	37	5	1217047	1217047	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1217047C>T	ENST00000304460.10	+	8	1216	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	387					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACATCAACGCCTTCCTCTCA	0.657																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1159-1161)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 19							113.0	109.0	110.0					5																	1217047		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1217047C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1160C>T	5.37:g.1217047C>T	ENSP00000305302:p.Ala387Val						p.A387V	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1216	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		387					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1160C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233980	0.39498	.	.	ENSG00000174358	ENST00000304460	T	0.74421	-0.84	4.85	3.97	0.46021	.	1.353650	0.04251	N	0.338561	T	0.65281	0.2676	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.54853	-0.8231	10	0.51188	T	0.08	.	13.7119	0.62674	0.0:0.7092:0.2908:0.0	.	387	Q695T7	S6A19_HUMAN	V	387	ENSP00000305302:A387V	ENSP00000305302:A387V	A	+	2	0	SLC6A19	1270047	0.028000	0.19301	0.810000	0.32431	0.665000	0.39181	0.553000	0.23391	1.007000	0.39238	0.491000	0.48974	GCC		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		25	53	0	0	0	1	0	25	53				
SEMA5A	9037	broad.mit.edu	37	5	9224815	9224815	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9224815G>A	ENST00000382496.5	-	8	1282	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	206	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTACTGCGCCGTGCGGAGAGG	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(616-618)aCg>aTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							120.0	101.0	107.0					5																	9224815		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224815G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.617C>T	5.37:g.9224815G>A	ENSP00000371936:p.Thr206Met						p.T206M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			8	1282	-			206			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.617C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012069	0.75046	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79976	-0.1576	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	206	Q13591	SEM5A_HUMAN	M	206	ENSP00000371936:T206M;ENSP00000421961:T206M	ENSP00000371936:T206M	T	-	2	0	SEMA5A	9277815	1.000000	0.71417	0.193000	0.23327	0.674000	0.39518	9.158000	0.94723	2.520000	0.84964	0.650000	0.86243	ACG		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			11	12	0	0	0	1	0	11	12				
ATL2	64225	broad.mit.edu	37	2	38525431	38525431	+	Missense_Mutation	SNP	C	C	T	rs114096962		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:38525431C>T	ENST00000378954.4	-	12	1488	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ATL2_ENST00000419554.2_Missense_Mutation_p.G496D|ATL2_ENST00000452935.2_Missense_Mutation_p.G478D|ATL2_ENST00000332337.4_Missense_Mutation_p.G478D|ATL2_ENST00000402054.1_Missense_Mutation_p.G325D|ATL2_ENST00000546051.1_Missense_Mutation_p.G325D|ATL2_ENST00000539122.1_Missense_Mutation_p.G325D|ATL2_ENST00000406122.1_Missense_Mutation_p.G325D	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	496					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGAGTTTAGGCCAATGAAGCC	0.418																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1486-1488)gGc>gAc		atlastin GTPase 2							135.0	116.0	123.0					2																	38525431		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38525431C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1487G>A	2.37:g.38525431C>T	ENSP00000368237:p.Gly496Asp					ATL2_ENST00000539122.1_Missense_Mutation_p.G325D|ATL2_ENST00000406122.1_Missense_Mutation_p.G325D|ATL2_ENST00000402054.1_Missense_Mutation_p.G325D|ATL2_ENST00000419554.2_Missense_Mutation_p.G496D|ATL2_ENST00000332337.4_Missense_Mutation_p.G478D|ATL2_ENST00000452935.2_Missense_Mutation_p.G478D|ATL2_ENST00000546051.1_Missense_Mutation_p.G325D	p.G496D	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			12	1488	-			496					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1487G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087700	0.94100	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.992;0.987	D;D;D;D;D	0.91635	0.999;0.959;0.982;0.969;0.932	D	0.97685	1.0175	10	0.87932	D	0	-10.4682	19.0794	0.93175	0.0:1.0:0.0:0.0	.	325;478;478;496;496	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	D	496;325;325;325;478;496;478;325	ENSP00000368237:G496D;ENSP00000385446:G325D;ENSP00000384062:G325D;ENSP00000446192:G325D;ENSP00000333393:G478D;ENSP00000415336:G496D;ENSP00000390743:G478D;ENSP00000438938:G325D	ENSP00000333393:G478D	G	-	2	0	ATL2	38378935	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.657000	0.83745	2.746000	0.94184	0.591000	0.81541	GGC		0.418	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		20	29	0	0	0	1	0	20	29				
EMC1	23065	broad.mit.edu	37	1	19559589	19559589	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19559589C>T	ENST00000477853.1	-	14	1515	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.Q469Q|EMC1_ENST00000375199.3_Silent_p.Q490Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	491						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GCAGGATAAGCTGAGACGAGA	0.473																																						ENST00000477853.1																			0											c.(1471-1473)caG>caA		ER membrane protein complex subunit 1							80.0	84.0	83.0					1																	19559589		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19559589C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1473G>A	1.37:g.19559589C>T						RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.Q490Q|EMC1_ENST00000375208.3_Silent_p.Q469Q	p.Q491Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					14	1515	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1473G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.069093	0.20147	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.73946	0.3652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72010	-0.4419	4	.	.	.	.	17.6394	0.88131	0.0:1.0:0.0:0.0	.	.	.	.	T	225	.	.	A	-	1	0	KIAA0090	19432176	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.594000	0.67557	2.735000	0.93741	0.655000	0.94253	GCT		0.473	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		25	46	0	0	0	1	0	25	46				
PLSCR2	57047	broad.mit.edu	37	3	146167020	146167020	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:146167020G>A	ENST00000497985.1	-	8	1276	c.837C>T	c.(835-837)gcC>gcT	p.A279A	PLSCR2_ENST00000336685.2_Silent_p.A206A	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	279					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAATCATCACGGCTTTCATTT	0.383																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(835-837)gcC>gcT		phospholipid scramblase 2							171.0	168.0	169.0					3																	146167020		2203	4300	6503	SO:0001819	synonymous_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146167020G>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.837C>T	3.37:g.146167020G>A						PLSCR2_ENST00000336685.2_Silent_p.A206A	p.A279A	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			8	1276	-			206					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	37	c.837C>T	CCDS56284.1																																																																																				0.383	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		47	56	0	0	0	1	0	47	56				
TMCO3	55002	broad.mit.edu	37	13	114201677	114201677	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114201677T>C	ENST00000434316.2	+	11	2112	c.1753T>C	c.(1753-1755)Tca>Cca	p.S585P	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	585						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTCACCTTGTCAGTGGTGGT	0.612																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1753-1755)Tca>Cca		transmembrane and coiled-coil domains 3							254.0	171.0	199.0					13																	114201677		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114201677T>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1753T>C	13.37:g.114201677T>C	ENSP00000389399:p.Ser585Pro					TMCO3_ENST00000375391.1_Intron	p.S585P	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		11	2112	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	585					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1753T>C	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795107	0.31777	.	.	ENSG00000150403	ENST00000434316	T	0.16324	2.35	4.78	2.18	0.27775	Cation/H+ exchanger (1);	0.391381	0.26380	N	0.024712	T	0.17280	0.0415	L	0.48642	1.525	0.80722	D	1	B	0.33477	0.413	B	0.37989	0.262	T	0.03240	-1.1057	10	0.33940	T	0.23	-16.4321	11.35	0.49583	0.0:0.0:0.2895:0.7105	.	585	Q6UWJ1	TMCO3_HUMAN	P	585	ENSP00000389399:S585P	ENSP00000389399:S585P	S	+	1	0	TMCO3	113249678	1.000000	0.71417	0.150000	0.22450	0.647000	0.38526	4.010000	0.57117	0.168000	0.19655	0.374000	0.22700	TCA		0.612	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		26	35	0	0	0	1	0	26	35				
MYO19	80179	broad.mit.edu	37	17	34856988	34856988	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34856988G>A	ENST00000431794.3	-	22	2690	c.2168C>T	c.(2167-2169)gCc>gTc	p.A723V	MYO19_ENST00000268852.9_Missense_Mutation_p.A523V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	723	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCAGTTATGGCTGCTGCCTG	0.582																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2167-2169)gCc>gTc		myosin XIX							91.0	98.0	95.0					17																	34856988		2139	4230	6369	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856988G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2168C>T	17.37:g.34856988G>A	ENSP00000409936:p.Ala723Val					MYO19_ENST00000268852.9_Missense_Mutation_p.A523V	p.A723V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	2690	-		Breast(25;0.00957)|Ovarian(249;0.17)	723					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2168C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281492	0.40394	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.95171	-3.63;-3.63	4.71	4.71	0.59529	Myosin head, motor domain (1);	0.442627	0.16673	N	0.204267	D	0.92028	0.7474	M	0.62723	1.935	0.80722	D	1	B;P	0.36633	0.002;0.562	B;B	0.35353	0.002;0.201	D	0.89664	0.3879	10	0.17369	T	0.5	.	13.498	0.61436	0.0:0.0:1.0:0.0	.	723;523	Q96H55;Q96H55-4	MYO19_HUMAN;.	V	723;523	ENSP00000409936:A723V;ENSP00000268852:A523V	ENSP00000268852:A523V	A	-	2	0	MYO19	31931101	0.019000	0.18553	0.045000	0.18777	0.076000	0.17211	1.882000	0.39648	2.319000	0.78375	0.462000	0.41574	GCC		0.582	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		31	38	0	0	0	1	0	31	38				
GRK6	2870	broad.mit.edu	37	5	176860173	176860173	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176860173G>A	ENST00000355472.5	+	6	634	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	GRK6_ENST00000355958.5_Missense_Mutation_p.A156T|GRK6_ENST00000528793.1_Missense_Mutation_p.A156T|GRK6_ENST00000393576.3_Missense_Mutation_p.A156T|GRK6_ENST00000507633.1_Missense_Mutation_p.A156T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	156	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAGCGTGGCCCCTTTTGC	0.632																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(466-468)Gcc>Acc		G protein-coupled receptor kinase 6							104.0	94.0	98.0					5																	176860173		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860173G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.466G>A	5.37:g.176860173G>A	ENSP00000347655:p.Ala156Thr					GRK6_ENST00000355958.5_Missense_Mutation_p.A156T|GRK6_ENST00000528793.1_Missense_Mutation_p.A156T|GRK6_ENST00000393576.3_Missense_Mutation_p.A156T|GRK6_ENST00000507633.1_Missense_Mutation_p.A156T	p.A156T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	634	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	156			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.466G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507152	0.64410	.	.	ENSG00000198055	ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T	0.01902	4.57;4.57;4.57;4.57;4.57;4.57;4.57	5.4	5.4	0.78164	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	L	0.51422	1.61	0.80722	D	1	P;B;B;D	0.62365	0.481;0.02;0.019;0.991	B;B;B;P	0.60286	0.21;0.008;0.005;0.872	T	0.51156	-0.8741	10	0.20046	T	0.44	-18.7046	19.1934	0.93677	0.0:0.0:1.0:0.0	.	156;126;156;156	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	124;124;156;156;156;156;156	ENSP00000421055:A124T;ENSP00000425391:A124T;ENSP00000347655:A156T;ENSP00000427581:A156T;ENSP00000377204:A156T;ENSP00000348230:A156T;ENSP00000433511:A156T	ENSP00000347655:A156T	A	+	1	0	GRK6	176792779	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.414000	0.97362	2.536000	0.85505	0.561000	0.74099	GCC		0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		24	32	0	0	0	1	0	24	32				
SHPRH	257218	broad.mit.edu	37	6	146266673	146266673	+	Silent	SNP	G	G	A	rs367700701		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146266673G>A	ENST00000367505.2	-	8	1686	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	SHPRH_ENST00000275233.7_Silent_p.Y474Y|SHPRH_ENST00000367503.3_Silent_p.Y474Y|SHPRH_ENST00000438092.2_Silent_p.Y474Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	474	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTTGAACATCGTATCTATATA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		17053	0.0		0.0	False		,,,				2504	0.001					ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1420-1422)taC>taT		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase		G	,	1,3667		0,1,1833	87.0	78.0	81.0		1422,1422	-10.3	0.1	6		81	0,8182		0,0,4091	no	coding-synonymous,coding-synonymous	SHPRH	NM_001042683.2,NM_173082.3	,	0,1,5924	AA,AG,GG		0.0,0.0273,0.0084	,	474/1684,474/1660	146266673	1,11849	1834	4091	5925	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146266673G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1422C>T	6.37:g.146266673G>A						SHPRH_ENST00000275233.7_Silent_p.Y474Y|SHPRH_ENST00000367505.2_Silent_p.Y474Y|SHPRH_ENST00000438092.2_Silent_p.Y474Y	p.Y474Y	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	8	1820	-		Ovarian(120;0.0365)	474			H15.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.1422C>T	CCDS43513.2																																																																																				0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		4	44	0	0	0	1	0	4	44				
SIM2	6493	broad.mit.edu	37	21	38072205	38072205	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:38072205C>T	ENST00000290399.6	+	1	772	c.159C>T	c.(157-159)cgC>cgT	p.R53R	SIM2_ENST00000430056.3_Silent_p.R53R|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	53	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGAAGATGCGCGCCGTCTTCC	0.697																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(157-159)cgC>cgT		single-minded family bHLH transcription factor 2							49.0	40.0	43.0					21																	38072205		2198	4298	6496	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38072205C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.159C>T	21.37:g.38072205C>T						SIM2_ENST00000430056.3_Silent_p.R53R|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	p.R53R	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			1	772	+			53			Helix-loop-helix motif.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.159C>T	CCDS13646.1																																																																																				0.697	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		7	1	0	0	0	1	0	7	1				
SZT2	23334	broad.mit.edu	37	1	43896661	43896661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43896661C>T	ENST00000562955.1	+	32	4645	c.4645C>T	c.(4645-4647)Cga>Tga	p.R1549*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.R707*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1606					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTTGGAGGCCGAGTTCCCTT	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4645-4647)Cga>Tga		seizure threshold 2 homolog (mouse)							60.0	58.0	59.0					1																	43896661		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43896661C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4645C>T	1.37:g.43896661C>T	ENSP00000457168:p.Arg1549*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.R707*	p.R1549*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			32	4645	+			1606					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.4645C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	42	9.596147	0.99214	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.395446	0.24851	N	0.035094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.8013	0.57588	0.2044:0.7956:0.0:0.0	.	.	.	.	X	707	.	ENSP00000361519:R707X	R	+	1	2	SZT2	43669248	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.321000	0.43805	2.733000	0.93635	0.655000	0.94253	CGA		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	23	0	0	0	1	0	16	23				
SUN5	140732	broad.mit.edu	37	20	31571729	31571729	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31571729C>T	ENST00000356173.3	-	13	1103	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	SUN5_ENST00000375523.3_Silent_p.A312A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	337	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCACCTTGACCGCACTGAAAG	0.607																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1009-1011)gcG>gcA		Sad1 and UNC84 domain containing 5							81.0	86.0	84.0					20																	31571729		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31571729C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1011G>A	20.37:g.31571729C>T						SUN5_ENST00000375523.3_Silent_p.A312A	p.A337A	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			13	1103	-			337			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.1011G>A	CCDS13209.1																																																																																				0.607	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		30	51	0	0	0	1	0	30	51				
ABCC3	8714	broad.mit.edu	37	17	48753279	48753279	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48753279C>T	ENST00000285238.8	+	22	2975	c.2895C>T	c.(2893-2895)gcC>gcT	p.A965A	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	965					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATGCCAAGGCCGTGGGGCTCT	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2893-2895)gcC>gcT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						84.0	75.0	78.0					17																	48753279		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753279C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2895C>T	17.37:g.48753279C>T						ABCC3_ENST00000510891.1_3'UTR	p.A965A	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		22	2975	+			965					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.2895C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802621	0.16397	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.88	-11.8	0.00035	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-4.8445	5.0324	0.14417	0.2008:0.501:0.1355:0.1627	.	.	.	.	C	114	.	.	R	+	1	0	ABCC3	46108278	0.000000	0.05858	0.004000	0.12327	0.827000	0.46813	-3.020000	0.00643	-2.748000	0.00376	-1.363000	0.01210	CGT		0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		18	15	0	0	0	1	0	18	15				
ANGEL1	23357	broad.mit.edu	37	14	77272943	77272943	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77272943C>T	ENST00000251089.2	-	5	1308	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	399										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GACATCGCCCCGGCGTGGGTT	0.592																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1195-1197)cGg>cAg		angel homolog 1 (Drosophila)							67.0	62.0	64.0					14																	77272943		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77272943C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1196G>A	14.37:g.77272943C>T	ENSP00000251089:p.Arg399Gln						p.R399Q	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1308	-			399					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1196G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842111	0.97016	.	.	ENSG00000013523	ENST00000251089	T	0.80824	-1.42	6.17	6.17	0.99709	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88334	0.2970	10	0.51188	T	0.08	-8.6022	20.8794	0.99867	0.0:1.0:0.0:0.0	.	399	Q9UNK9	ANGE1_HUMAN	Q	399	ENSP00000251089:R399Q	ENSP00000251089:R399Q	R	-	2	0	ANGEL1	76342696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGG		0.592	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		11	24	0	0	0	1	0	11	24				
PTGS1	5742	broad.mit.edu	37	9	125154676	125154676	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125154676C>T	ENST00000362012.2	+	11	1658	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	PTGS1_ENST00000540753.1_Silent_p.G489G|PTGS1_ENST00000223423.4_Silent_p.G514G|PTGS1_ENST00000373698.5_Silent_p.G442G	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	551					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATTTGGCGGCGAGGTGGGCT	0.552																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1651-1653)ggC>ggT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						111.0	106.0	108.0					9																	125154676		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154676C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1653C>T	9.37:g.125154676C>T						PTGS1_ENST00000373698.5_Silent_p.G442G|PTGS1_ENST00000540753.1_Silent_p.G489G|PTGS1_ENST00000223423.4_Silent_p.G514G	p.G551G	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1658	+			551					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1653C>T	CCDS6842.1																																																																																				0.552	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			33	39	0	0	0	1	0	33	39				
CLCN2	1181	broad.mit.edu	37	3	184075770	184075770	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184075770C>T	ENST00000265593.4	-	5	766	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	CLCN2_ENST00000457512.1_Missense_Mutation_p.G199R|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.G155R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G199R|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	199			G -> A (no effect). {ECO:0000269|PubMed:17762171}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCGGCATCCCGCTGCCTAGG	0.592																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(595-597)Ggg>Agg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						58.0	56.0	57.0					3																	184075770		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075770C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.595G>A	3.37:g.184075770C>T	ENSP00000265593:p.Gly199Arg					CLCN2_ENST00000434054.2_Missense_Mutation_p.G155R|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G199R|CLCN2_ENST00000457512.1_Missense_Mutation_p.G199R	p.G199R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	766	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		199		G -> A (no effect).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.595G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	18.30	3.593853	0.66219	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43	4.58	4.58	0.56647	Chloride channel, core (2);	0.056908	0.64402	D	0.000001	D	0.99782	0.9909	H	0.96208	3.785	0.80722	D	1	D;D;D;P;D	0.69078	0.995;0.994;0.995;0.934;0.997	P;P;D;P;D	0.63703	0.841;0.821;0.917;0.607;0.917	D	0.97015	0.9739	10	0.66056	D	0.02	-21.0286	16.3077	0.82855	0.0:1.0:0.0:0.0	.	199;155;199;199;199	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	R	199;199;155;199	ENSP00000265593:G199R;ENSP00000345056:G199R;ENSP00000400425:G155R;ENSP00000391928:G199R	ENSP00000265593:G199R	G	-	1	0	CLCN2	185558464	0.998000	0.40836	0.948000	0.38648	0.728000	0.41692	3.892000	0.56235	2.378000	0.81104	0.561000	0.74099	GGG		0.592	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			13	27	0	0	0	1	0	13	27				
CDHR5	53841	broad.mit.edu	37	11	617465	617465	+	Silent	SNP	C	C	T	rs139083373		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:617465C>T	ENST00000358353.3	-	16	2746	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Silent_p.A808A|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Silent_p.A614A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	808					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGGGTGGGCGCGTTGAGAA	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		11929	0.001		0.0	False		,,,				2504	0.0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(2422-2424)gcG>gcA		cadherin-related family member 5		C	,,	0,4402		0,0,2201	51.0	43.0	46.0		2406,2424,1842	-2.3	0.0	11	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	802/840,808/846,614/652	617465	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617465C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2424G>A	11.37:g.617465C>T						CDHR5_ENST00000397542.2_Silent_p.A808A|CDHR5_ENST00000349570.7_Silent_p.A614A	p.A808A			Q9HBB8	CDHR5_HUMAN			16	2746	-			808					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2424G>A	CCDS7707.1																																																																																				0.701	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		13	27	0	0	0	1	0	13	27				
ANKRD11	29123	broad.mit.edu	37	16	89347321	89347321	+	Missense_Mutation	SNP	G	G	A	rs142527333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89347321G>A	ENST00000301030.4	-	9	6089	c.5629C>T	c.(5629-5631)Ccg>Tcg	p.P1877S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1877S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1877	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGGAGACGGGGTGACAGTG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16059	0.0		0.0	False		,,,				2504	0.0					ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5629-5631)Ccg>Tcg		ankyrin repeat domain 11		G	SER/PRO	8,4388	12.9+/-30.5	0,8,2190	47.0	52.0	50.0		5629	4.6	0.2	16	dbSNP_134	50	0,8600		0,0,4300	yes	missense	ANKRD11	NM_013275.4	74	0,8,6490	AA,AG,GG		0.0,0.182,0.0616	probably-damaging	1877/2664	89347321	8,12988	2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89347321G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5629C>T	16.37:g.89347321G>A	ENSP00000301030:p.Pro1877Ser					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1877S	p.P1877S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6089	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1877			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5629C>T	CCDS32513.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	10.63	1.403194	0.25291	0.00182	0.0	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.36340	1.26;1.26	4.58	4.58	0.56647	.	0.090154	0.45867	D	0.000321	T	0.22627	0.0546	L	0.27053	0.805	0.80722	D	1	B	0.33694	0.421	B	0.30646	0.118	T	0.04811	-1.0925	10	0.10902	T	0.67	.	12.8508	0.57856	0.0:0.1644:0.8356:0.0	.	1877	Q6UB99	ANR11_HUMAN	S	1877	ENSP00000301030:P1877S;ENSP00000367581:P1877S	ENSP00000301030:P1877S	P	-	1	0	ANKRD11	87874822	0.259000	0.24043	0.200000	0.23457	0.013000	0.08279	2.098000	0.41757	2.100000	0.63781	0.450000	0.29827	CCG		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	24	0	0	0	1	0	17	24				
CYFIP2	26999	broad.mit.edu	37	5	156816382	156816382	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156816382C>T	ENST00000521420.1	+	28	3406	c.3315C>T	c.(3313-3315)agC>agT	p.S1105S	CYFIP2_ENST00000377576.3_Silent_p.S1131S|CYFIP2_ENST00000318218.6_Silent_p.S1156S|CYFIP2_ENST00000522463.1_Silent_p.S935S|CYFIP2_ENST00000435847.2_Silent_p.S830S|CYFIP2_ENST00000347377.6_Silent_p.S1131S|CYFIP2_ENST00000541131.1_Silent_p.S1056S|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTGTGGAGCGCCATGCAGT	0.622																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3391-3393)agC>agT		cytoplasmic FMR1 interacting protein 2							55.0	64.0	61.0					5																	156816382		2161	4281	6442	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816382C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3315C>T	5.37:g.156816382C>T						CYFIP2_ENST00000522463.1_Silent_p.S935S|CYFIP2_ENST00000377576.3_Silent_p.S1131S|CYFIP2_ENST00000541131.1_Silent_p.S1056S|CYFIP2_ENST00000521420.1_Silent_p.S1105S|CYFIP2_ENST00000435847.2_Silent_p.S830S|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Silent_p.S1156S	p.S1131S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		29	3824	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1156						Silent	SNP	ENST00000521420.1	37	c.3393C>T																																																																																					0.622	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		13	27	0	0	0	1	0	13	27				
ZNF665	79788	broad.mit.edu	37	19	53668564	53668564	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53668564C>T	ENST00000600412.1	-	2	1099	c.984G>A	c.(982-984)caG>caA	p.Q328Q	ZNF665_ENST00000396424.3_Silent_p.Q393Q|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGGATGATCTGATGCTTAG	0.398																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(982-984)caG>caA		zinc finger protein 665							100.0	104.0	103.0					19																	53668564		2203	4299	6502	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668564C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.984G>A	19.37:g.53668564C>T						ZNF665_ENST00000396424.3_Silent_p.Q393Q	p.Q328Q			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1099	-			328					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.984G>A																																																																																					0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		10	46	0	0	0	1	0	10	46				
CREBBP	1387	broad.mit.edu	37	16	3832871	3832871	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3832871C>A	ENST00000262367.5	-	6	2196	c.1387G>T	c.(1387-1389)Ggg>Tgg	p.G463W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G425W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	463					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCTGTTGCCCTGTGCCAACA	0.493			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1387-1389)Ggg>Tgg		CREB binding protein							98.0	90.0	93.0					16																	3832871		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3832871C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1387G>T	16.37:g.3832871C>A	ENSP00000262367:p.Gly463Trp					CREBBP_ENST00000382070.3_Missense_Mutation_p.G425W	p.G463W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	6	2196	-		Ovarian(90;0.0266)	463					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1387G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202450	0.58234	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84442	-1.85;-1.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	D	0.92048	0.5646	10	0.87932	D	0	-19.9134	20.8794	0.99867	0.0:1.0:0.0:0.0	.	493;463	Q4LE28;Q92793	.;CBP_HUMAN	W	463;493;425	ENSP00000262367:G463W;ENSP00000371502:G425W	ENSP00000262367:G463W	G	-	1	0	CREBBP	3772872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.945000	0.63568	2.941000	0.99782	0.655000	0.94253	GGG		0.493	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	35	1	0	7.07596e-05	1	7.26534e-05	16	35				
GGT1	2678	broad.mit.edu	37	22	24982100	24982100	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24982100G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Silent_p.D234D|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACTTGGTGGTGTCCTTGATGG	0.677																																						ENST00000318753.8																			0											c.(700-702)gaC>gaT		family with sequence similarity 211, member B							104.0	119.0	114.0					22																	24982100		2149	4252	6401	SO:0001627	intron_variant	388886							g.chr22:24982100G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2324G>A	22.37:g.24982100G>A						GGT1_ENST00000248923.4_Intron	p.D234D	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	725	-			234					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.702C>T	CCDS42992.1																																																																																				0.677	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		15	102	0	0	0	1	0	15	102				
COL16A1	1307	broad.mit.edu	37	1	32151335	32151335	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32151335G>T	ENST00000373672.3	-	29	2437	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	COL16A1_ENST00000271069.6_Missense_Mutation_p.L640I|COL16A1_ENST00000373668.3_Missense_Mutation_p.L641I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	641	Nonhelical region 7 (NC7).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCTGAAGGTTGGACAGG	0.632																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1921-1923)Ctt>Att		collagen, type XVI, alpha 1							107.0	115.0	113.0					1																	32151335		1929	4130	6059	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32151335G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1921C>A	1.37:g.32151335G>T	ENSP00000362776:p.Leu641Ile					COL16A1_ENST00000373668.3_Missense_Mutation_p.L641I|COL16A1_ENST00000271069.6_Missense_Mutation_p.L640I	p.L641I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	29	2437	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	641			Nonhelical region 7 (NC7).		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1921C>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356474	0.24598	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.90444	-2.62;-2.67;-2.62	5.06	-3.9	0.04181	.	0.990037	0.08229	N	0.977922	T	0.76630	0.4014	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.06405	0.0;0.001;0.002	T	0.61792	-0.6990	10	0.18710	T	0.47	.	6.0392	0.19724	0.0769:0.1065:0.1839:0.6327	.	641;641;641	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	I	641;640;641	ENSP00000362776:L641I;ENSP00000271069:L640I;ENSP00000362772:L641I	ENSP00000271069:L640I	L	-	1	0	COL16A1	31923922	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.382000	0.07408	-0.284000	0.09102	-0.261000	0.10672	CTT		0.632	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		32	72	1	0	6.05902e-23	1	6.74593e-23	32	72				
PCDHGA8	9708	broad.mit.edu	37	5	140773156	140773156	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140773156C>T	ENST00000398604.2	+	1	776	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	259	Cadherin 3. {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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCAGGCACGCGGCTGCTT	0.488																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(775-777)aCg>aTg									73.0	78.0	76.0					5																	140773156		1928	4137	6065	SO:0001583	missense	0							g.chr5:140773156C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.776C>T	5.37:g.140773156C>T	ENSP00000381605:p.Thr259Met					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.T259M	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	776	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.776C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.342398	0.61073	.	.	ENSG00000253767	ENST00000398604	T	0.58358	0.34	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.31936	U	0.006822	T	0.79499	0.4456	M	0.91920	3.255	0.40981	D	0.984778	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.84356	0.0535	10	0.66056	D	0.02	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	259;259	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	259	ENSP00000381605:T259M	ENSP00000381605:T259M	T	+	2	0	PCDHGA8	140753340	0.037000	0.19845	0.773000	0.31616	0.489000	0.33432	3.220000	0.51207	2.552000	0.86080	0.655000	0.94253	ACG		0.488	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		27	69	0	0	0	1	0	27	69				
CAB39L	81617	broad.mit.edu	37	13	49956951	49956951	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49956951G>A	ENST00000355854.4	-	2	593	c.96C>T	c.(94-96)gaC>gaT	p.D32D	CAB39L_ENST00000410043.1_Silent_p.D32D|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Silent_p.D32D|CAB39L_ENST00000409308.1_Silent_p.D32D	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	32					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTGTCTTTTTGTCTTGCTTTT	0.318																																						ENST00000355854.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(94-96)gaC>gaT		calcium binding protein 39-like							165.0	152.0	156.0					13																	49956951		1855	4098	5953	SO:0001819	synonymous_variant	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49956951G>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.96C>T	13.37:g.49956951G>A						CAB39L_ENST00000409308.1_Silent_p.D32D|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000410043.1_Silent_p.D32D|CAB39L_ENST00000347776.5_Silent_p.D32D	p.D32D	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	2	593	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	32					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	c.96C>T	CCDS9416.2																																																																																				0.318	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		12	24	0	0	0	1	0	12	24				
ATG2B	55102	broad.mit.edu	37	14	96829259	96829259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96829259G>A	ENST00000359933.4	-	1	948	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	GSKIP_ENST00000556095.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank|GSKIP_ENST00000554182.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	19					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGTACCTCTGCAGGAGGTAC	0.642																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(55-57)Cag>Tag		autophagy related 2B							54.0	56.0	56.0					14																	96829259		2000	4173	6173	SO:0001587	stop_gained	55102							g.chr14:96829259G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.55C>T	14.37:g.96829259G>A	ENSP00000353010:p.Gln19*						p.Q19*	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	1	948	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	19					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.55C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	46	12.394861	0.99664	.	.	ENSG00000066739	ENST00000359933	.	.	.	4.16	4.16	0.48862	.	0.086607	0.47852	U	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	16.6334	0.85040	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000353010:Q19X	Q	-	1	0	ATG2B	95899012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.731000	0.91529	2.149000	0.67028	0.491000	0.48974	CAG		0.642	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		22	47	0	0	0	1	0	22	47				
MED26	9441	broad.mit.edu	37	19	16687031	16687031	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687031G>A	ENST00000263390.3	-	3	1872	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	537					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCCGTGGGCGGGCTTTG	0.647																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1609-1611)cCc>cTc		mediator complex subunit 26							49.0	50.0	50.0					19																	16687031		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687031G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1610C>T	19.37:g.16687031G>A	ENSP00000263390:p.Pro537Leu					CTD-3222D19.2_ENST00000409035.1_Intron	p.P537L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1872	-			537					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1610C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189643	0.21954	.	.	ENSG00000105085	ENST00000263390	T	0.46451	0.87	5.28	5.28	0.74379	.	0.686962	0.14589	N	0.310362	T	0.41050	0.1142	L	0.50333	1.59	0.21499	N	0.999664	B	0.32573	0.376	B	0.26770	0.073	T	0.42766	-0.9432	10	0.72032	D	0.01	-9.906	17.8803	0.88838	0.0:0.0:1.0:0.0	.	537	O95402	MED26_HUMAN	L	537	ENSP00000263390:P537L	ENSP00000263390:P537L	P	-	2	0	MED26	16548031	0.937000	0.31787	0.290000	0.24890	0.358000	0.29455	2.843000	0.48238	2.464000	0.83262	0.591000	0.81541	CCC		0.647	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		25	21	0	0	0	1	0	25	21				
RIC8A	60626	broad.mit.edu	37	11	214299	214299	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:214299C>T	ENST00000526104.1	+	10	2889	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Silent_p.C509C|RIC8A_ENST00000325207.5_Silent_p.C521C			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	515					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCATGTGCGAGACTATGG	0.607																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(1543-1545)tgC>tgT		RIC8 guanine nucleotide exchange factor A							98.0	76.0	84.0					11																	214299		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:214299C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1545C>T	11.37:g.214299C>T						RIC8A_ENST00000527696.1_Silent_p.C509C|RIC8A_ENST00000325207.5_Silent_p.C521C|RIC8A_ENST00000531541.1_3'UTR	p.C515C			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	2889	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	515					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.1545C>T		.	.	.	.	.	.	.	.	.	.	C	14.17	2.455920	0.43634	.	.	ENSG00000177963	ENST00000524854;ENST00000529275	.	.	.	4.83	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.42200	D	0.991768	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0855	8.25	0.31712	0.0:0.3043:0.111:0.5847	.	.	.	.	X	131;82	.	.	R	+	1	2	RIC8A	204299	0.000000	0.05858	0.920000	0.36463	0.974000	0.67602	-1.838000	0.01687	-0.567000	0.06046	-0.140000	0.14226	CGA		0.607	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		6	13	0	0	0	1	0	6	13				
HCAR1	27198	broad.mit.edu	37	12	123214176	123214176	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123214176C>T	ENST00000436083.2	-	1	1214	c.711G>A	c.(709-711)gtG>gtA	p.V237V	HCAR1_ENST00000356987.2_Silent_p.V237V|HCAR1_ENST00000432564.1_Silent_p.V237V			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	237					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GTCTAGCAGACACGCTGGGCA	0.582																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(709-711)gtG>gtA		hydroxycarboxylic acid receptor 1							70.0	64.0	66.0					12																	123214176		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214176C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.711G>A	12.37:g.123214176C>T						HCAR1_ENST00000436083.2_Silent_p.V237V|HCAR1_ENST00000356987.2_Silent_p.V237V	p.V237V	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	953	-			237					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.711G>A	CCDS9236.1																																																																																				0.582	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			8	38	0	0	0	1	0	8	38				
OBSCN	84033	broad.mit.edu	37	1	228401957	228401957	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228401957G>T	ENST00000422127.1	+	4	1385	c.1341G>T	c.(1339-1341)ccG>ccT	p.P447P	OBSCN_ENST00000284548.11_Silent_p.P447P|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Silent_p.P447P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	447	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCGGTCCCGGTGGGCCCCG	0.701																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(1339-1341)ccG>ccT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							37.0	46.0	43.0					1																	228401957		1942	4120	6062	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228401957G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1341G>T	1.37:g.228401957G>T						OBSCN_ENST00000284548.11_Silent_p.P447P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.P447P	p.P447P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			4	1415	+		Prostate(94;0.0405)	447			Ig-like 5.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.1341G>T	CCDS58065.1																																																																																				0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	73	1	0	0.150653	1	0.151081	4	73				
ZEB2	9839	broad.mit.edu	37	2	145147501	145147501	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:145147501G>T	ENST00000558170.2	-	10	4346	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P	ZEB2_ENST00000539609.3_Silent_p.P1030P|ZEB2_ENST00000303660.4_Silent_p.P1054P|ZEB2_ENST00000409487.3_Silent_p.P1054P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1054					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACACTGATAGGGCTTCTCGC	0.512																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3160-3162)ccC>ccA		zinc finger E-box binding homeobox 2							58.0	56.0	57.0					2																	145147501		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147501G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3162C>A	2.37:g.145147501G>T						ZEB2_ENST00000409487.3_Silent_p.P1054P|ZEB2_ENST00000303660.4_Silent_p.P1054P|ZEB2_ENST00000539609.3_Silent_p.P1030P	p.P1054P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4346	-			1054					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3162C>A	CCDS2186.1																																																																																				0.512	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		12	17	1	0	0.00010058	1	0.000103117	12	17				
AP2B1	163	broad.mit.edu	37	17	33966626	33966626	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33966626C>A	ENST00000262325.7	+	11	1837	c.1284C>A	c.(1282-1284)atC>atA	p.I428I	AP2B1_ENST00000589344.1_Silent_p.I428I|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.I428I|AP2B1_ENST00000312678.8_Silent_p.I428I|AP2B1_ENST00000538556.1_Silent_p.I371I|AP2B1_ENST00000592545.1_Silent_p.I390I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	428					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATGAAAGTATCATCGCCACTC	0.398																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1282-1284)atC>atA		adaptor-related protein complex 2, beta 1 subunit							99.0	95.0	97.0					17																	33966626		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33966626C>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1284C>A	17.37:g.33966626C>A						AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Silent_p.I428I|AP2B1_ENST00000589344.1_Silent_p.I428I|AP2B1_ENST00000312678.8_Silent_p.I428I|AP2B1_ENST00000592545.1_Silent_p.I390I|AP2B1_ENST00000538556.1_Silent_p.I371I	p.I428I	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	11	1837	+		Ovarian(249;0.17)	428					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.1284C>A	CCDS32622.1																																																																																				0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			24	47	1	0	3.01185e-09	1	3.19065e-09	24	47				
HERC2	8924	broad.mit.edu	37	15	28502369	28502369	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28502369G>A	ENST00000261609.7	-	17	2463	c.2355C>T	c.(2353-2355)ggC>ggT	p.G785G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGACACGGAGGCCAATGGACC	0.512																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(2353-2355)ggC>ggT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							53.0	41.0	45.0					15																	28502369		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28502369G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2355C>T	15.37:g.28502369G>A							p.G785G	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	17	2463	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	785						Silent	SNP	ENST00000261609.7	37	c.2355C>T	CCDS10021.1																																																																																				0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	7	0	0	0	1	0	6	7				
VDR	7421	broad.mit.edu	37	12	48251320	48251320	+	Silent	SNP	G	G	A	rs140864473		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48251320G>A	ENST00000395324.2	-	5	697	c.429C>T	c.(427-429)taC>taT	p.Y143Y	VDR_ENST00000549336.1_Silent_p.Y143Y|VDR_ENST00000535672.1_Silent_p.Y111Y|VDR_ENST00000229022.3_Silent_p.Y143Y|VDR_ENST00000550325.1_Silent_p.Y193Y			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	143	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGGTGGGGTCGTAGGTCTTAT	0.617																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(427-429)taC>taT		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	G	,,	0,4406		0,0,2203	133.0	115.0	121.0		429,429,579	-8.9	0.3	12	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	VDR	NM_000376.2,NM_001017535.1,NM_001017536.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	143/428,143/428,193/478	48251320	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251320G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.429C>T	12.37:g.48251320G>A						VDR_ENST00000535672.1_Silent_p.Y111Y|VDR_ENST00000395324.2_Silent_p.Y143Y|VDR_ENST00000549336.1_Silent_p.Y143Y|VDR_ENST00000550325.1_Silent_p.Y193Y	p.Y143Y	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	6	710	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	143			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.429C>T	CCDS8757.1																																																																																				0.617	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			14	16	0	0	0	1	0	14	16				
SLC5A10	125206	broad.mit.edu	37	17	18872438	18872438	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18872438C>T	ENST00000395645.3	+	6	545	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SLC5A10_ENST00000395643.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000317977.6_Missense_Mutation_p.T120M|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T120M|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T176M	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	176					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACCATCCTCACGCTCGGCATC	0.627																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(358-360)aCg>aTg		solute carrier family 5 (sodium/sugar cotransporter), member 10							143.0	108.0	120.0					17																	18872438		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872438C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.527C>T	17.37:g.18872438C>T	ENSP00000379007:p.Thr176Met					FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.T176M|SLC5A10_ENST00000417251.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000395642.1_Missense_Mutation_p.T120M|SLC5A10_ENST00000395643.2_Missense_Mutation_p.T176M|SLC5A10_ENST00000395647.2_Missense_Mutation_p.T176M	p.T120M			A0PJK1	SC5AA_HUMAN			6	930	+			176					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.359C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675622	0.47781	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.90261	-2.64;-2.3;-2.64;-2.3;-2.3;-2.29	4.82	3.78	0.43462	.	0.084772	0.85682	N	0.000000	T	0.73938	0.3651	N	0.02674	-0.535	0.80722	D	1	B;B;B;B;B	0.17268	0.003;0.002;0.003;0.009;0.021	B;B;B;B;B	0.12156	0.003;0.001;0.003;0.004;0.007	T	0.66204	-0.5982	10	0.46703	T	0.11	.	4.9853	0.14187	0.0:0.1931:0.0:0.8069	.	176;176;176;176;120	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	M	120;176;120;176;176;176	ENSP00000324346:T120M;ENSP00000379008:T176M;ENSP00000379004:T120M;ENSP00000401875:T176M;ENSP00000379007:T176M;ENSP00000379005:T176M	ENSP00000324346:T120M	T	+	2	0	SLC5A10	18813163	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	4.811000	0.62606	0.960000	0.38005	0.462000	0.41574	ACG		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	19	0	0	0	1	0	9	19				
BZRAP1	9256	broad.mit.edu	37	17	56381740	56381740	+	Silent	SNP	G	G	A	rs545954208|rs543719572	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56381740G>A	ENST00000343736.4	-	31	5728	c.5565C>T	c.(5563-5565)gtC>gtT	p.V1855V	BZRAP1_ENST00000268893.6_Silent_p.V1795V|BZRAP1_ENST00000355701.3_Intron			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1855						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTAGCACTGGACTCTTCTCC	0.567											OREG0024610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268893.6																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5383-5385)gtC>gtT		benzodiazapine receptor (peripheral) associated protein 1							179.0	148.0	159.0					17																	56381740		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56381740G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5565C>T	17.37:g.56381740G>A			OREG0024610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1015	BZRAP1_ENST00000355701.3_Intron|BZRAP1_ENST00000343736.4_Silent_p.V1855V	p.V1795V	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN			30	6224	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1855			SH3 3.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.5385C>T	CCDS11605.1																																																																																				0.567	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	85	0	0	0	1	0	12	85				
MUC16	94025	broad.mit.edu	37	19	9025600	9025600	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9025600G>A	ENST00000397910.4	-	15	37057	c.36854C>T	c.(36853-36855)aCc>aTc	p.T12285I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12287	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGCAAGGTCAATCTGCA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36853-36855)aCc>aTc		mucin 16, cell surface associated							112.0	102.0	105.0					19																	9025600		1967	4159	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9025600G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36854C>T	19.37:g.9025600G>A	ENSP00000381008:p.Thr12285Ile						p.T12285I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			15	37057	-			12287			SEA 2.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36854C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.673	0.903252	0.17760	.	.	ENSG00000181143	ENST00000397910	T	0.21543	2.0	2.81	-1.14	0.09741	.	.	.	.	.	T	0.21718	0.0523	M	0.78456	2.415	.	.	.	B	0.09022	0.002	B	0.15052	0.012	T	0.32745	-0.9895	8	0.87932	D	0	.	3.5749	0.07930	0.2659:0.209:0.5251:0.0	.	12285	B5ME49	.	I	12285	ENSP00000381008:T12285I	ENSP00000381008:T12285I	T	-	2	0	MUC16	8886600	0.000000	0.05858	0.017000	0.16124	0.002000	0.02628	-0.846000	0.04336	-0.097000	0.12307	-1.026000	0.02426	ACC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	46	0	0	0	1	0	29	46				
MIR371B	100616185	broad.mit.edu	37	19	54291980	54291980	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54291980C>T	ENST00000595160.1	-	0	0				AC008753.4_ENST00000597420.1_lincRNA|MIR373_ENST00000362273.1_RNA|MIR371A_ENST00000362161.1_RNA|MIR372_ENST00000362225.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1				microRNA 371b																		AATGGGGGCGCTTTCCTTTTT	0.527																																						ENST00000362273.1																			0																				86.0	89.0	88.0					19																	54291980		1553	3552	5105			0							g.chr19:54291980C>T			19	2011-09-12				ENSG00000269877		"""ncRNAs / Micro RNAs"""	41863	non-coding RNA	RNA, micro							Standard	NR_039909		Approved	hsa-mir-371b	uc021vba.1				19.37:g.54291980C>T								NR_029866.1						0	22	+									RNA	SNP	ENST00000595160.1	37																																																																																						0.527	MIR371B-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465677.1	NR_039909		4	8	0	0	0	1	0	4	8				
SRCAP	10847	broad.mit.edu	37	16	30724641	30724641	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30724641C>T	ENST00000262518.4	+	15	2628	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V	SRCAP_ENST00000344771.4_Missense_Mutation_p.A748V|SRCAP_ENST00000395059.2_Missense_Mutation_p.A748V|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGATGAGGCGCAGAACATC	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2242-2244)gCg>gTg		Snf2-related CREBBP activator protein							125.0	111.0	116.0					16																	30724641		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724641C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2243C>T	16.37:g.30724641C>T	ENSP00000262518:p.Ala748Val					SRCAP_ENST00000344771.4_Missense_Mutation_p.A748V|SRCAP_ENST00000395059.2_Missense_Mutation_p.A748V	p.A748V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2628	+			748			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2243C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478665	0.63849	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.95482	-3.72;-3.72;-3.72	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000026	D	0.97801	0.9278	M	0.89658	3.05	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.99;0.992	D;P;P	0.91635	0.999;0.719;0.723	D	0.97713	1.0192	10	0.62326	D	0.03	-14.034	11.5289	0.50597	0.0:0.9178:0.0:0.0822	.	748;748;748	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	748	ENSP00000262518:A748V;ENSP00000378499:A748V;ENSP00000343042:A748V	ENSP00000262518:A748V	A	+	2	0	SRCAP	30632142	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	3.006000	0.49529	2.816000	0.96949	0.563000	0.77884	GCG		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		20	36	0	0	0	1	0	20	36				
BASP1	10409	broad.mit.edu	37	5	17275931	17275931	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:17275931C>T	ENST00000322611.3	+	2	866	c.606C>T	c.(604-606)ccC>ccT	p.P202P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	202					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						CCCAGGGCCCCGCAGCCTCTG	0.617																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(604-606)ccC>ccT		brain abundant, membrane attached signal protein 1							14.0	20.0	18.0					5																	17275931		2190	4292	6482	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275931C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.606C>T	5.37:g.17275931C>T							p.P202P	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	866	+			202					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.606C>T	CCDS3888.1																																																																																				0.617	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			12	18	0	0	0	1	0	12	18				
VWF	7450	broad.mit.edu	37	12	6167158	6167158	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6167158C>T	ENST00000261405.5	-	14	1840	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	529	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCCTGGTTGCCATTGTAATT	0.667																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1585-1587)gGc>gAc		von Willebrand factor	Antihemophilic Factor(DB00025)						54.0	55.0	55.0					12																	6167158		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167158C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1586G>A	12.37:g.6167158C>T	ENSP00000261405:p.Gly529Asp						p.G529D	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			14	1840	-			529			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1586G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851205	0.91277	.	.	ENSG00000110799	ENST00000261405	T	0.63096	-0.02	4.94	4.94	0.65067	von Willebrand factor, type D domain (3);	0.000000	0.41001	D	0.000975	T	0.79021	0.4376	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79771	-0.1663	10	0.49607	T	0.09	.	17.3452	0.87308	0.0:1.0:0.0:0.0	.	529;529	B4DNX0;P04275	.;VWF_HUMAN	D	529	ENSP00000261405:G529D	ENSP00000261405:G529D	G	-	2	0	VWF	6037419	1.000000	0.71417	0.961000	0.40146	0.869000	0.49853	7.289000	0.78701	2.567000	0.86603	0.491000	0.48974	GGC		0.667	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		28	43	0	0	0	1	0	28	43				
CNTN1	1272	broad.mit.edu	37	12	41410696	41410696	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:41410696A>G	ENST00000551295.2	+	19	2514	c.2397A>G	c.(2395-2397)gcA>gcG	p.A799A	CNTN1_ENST00000347616.1_Silent_p.A799A|CNTN1_ENST00000348761.2_Silent_p.A788A|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	799	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCTAGTAGCAGTCATTAATT	0.418																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2395-2397)gcA>gcG		contactin 1							88.0	76.0	80.0					12																	41410696		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410696A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2397A>G	12.37:g.41410696A>G						CNTN1_ENST00000347616.1_Silent_p.A799A|CNTN1_ENST00000348761.2_Silent_p.A788A|CNTN1_ENST00000550305.1_3'UTR	p.A799A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			19	2514	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	799			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2397A>G	CCDS8737.1																																																																																				0.418	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	33	0	0	0	1	0	11	33				
CHD6	84181	broad.mit.edu	37	20	40076586	40076586	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40076586A>G	ENST00000373233.3	-	24	3886	c.3709T>C	c.(3709-3711)Tac>Cac	p.Y1237H	CHD6_ENST00000309279.7_Missense_Mutation_p.Y720H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1237					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTAGGTAGTACAGCATCCGG	0.398																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3709-3711)Tac>Cac		chromodomain helicase DNA binding protein 6							131.0	124.0	127.0					20																	40076586		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40076586A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3709T>C	20.37:g.40076586A>G	ENSP00000362330:p.Tyr1237His					CHD6_ENST00000309279.7_Missense_Mutation_p.Y720H	p.Y1237H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			24	3886	-		Myeloproliferative disorder(115;0.00425)	1237					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3709T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849557	0.91277	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.91792	-2.91;-2.91	5.65	5.65	0.86999	.	0.000000	0.49916	D	0.000137	D	0.94886	0.8347	M	0.64404	1.975	0.30836	N	0.736179	D;P	0.67145	0.996;0.947	D;P	0.67725	0.953;0.688	D	0.93867	0.7159	10	0.87932	D	0	-9.3501	15.0659	0.71996	1.0:0.0:0.0:0.0	.	720;1237	C9JFU2;Q8TD26	.;CHD6_HUMAN	H	1237;720	ENSP00000362330:Y1237H;ENSP00000308684:Y720H	ENSP00000308684:Y720H	Y	-	1	0	CHD6	39510000	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.287000	0.95975	2.156000	0.67533	0.533000	0.62120	TAC		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			23	122	0	0	0	1	0	23	122				
PLXNA1	5361	broad.mit.edu	37	3	126707689	126707689	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126707689G>A	ENST00000393409.2	+	1	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	PLXNA1_ENST00000251772.4_Missense_Mutation_p.V62I	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGGCCCACGTCACGGGCCC	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(184-186)Gtc>Atc		plexin A1							70.0	62.0	64.0					3																	126707689		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707689G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.253G>A	3.37:g.126707689G>A	ENSP00000377061:p.Val85Ile					PLXNA1_ENST00000393409.2_Missense_Mutation_p.V85I	p.V62I			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	253	+			85			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.184G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336989	0.24253	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10573	2.86;2.86	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	3.946380	0.01377	N	0.012782	T	0.13628	0.0330	L	0.39085	1.19	0.43172	D	0.994972	B	0.28324	0.207	B	0.21917	0.037	T	0.15896	-1.0421	10	0.36615	T	0.2	.	15.3359	0.74255	0.0:0.0:1.0:0.0	.	85	Q9UIW2	PLXA1_HUMAN	I	85;62	ENSP00000377061:V85I;ENSP00000251772:V62I	ENSP00000251772:V62I	V	+	1	0	PLXNA1	128190379	1.000000	0.71417	0.961000	0.40146	0.479000	0.33129	5.818000	0.69236	1.834000	0.53371	0.313000	0.20887	GTC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		18	24	0	0	0	1	0	18	24				
COL17A1	1308	broad.mit.edu	37	10	105830199	105830199	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105830199C>T	ENST00000353479.5	-	9	882	c.592G>A	c.(592-594)Gcg>Acg	p.A198T	COL17A1_ENST00000369733.3_Missense_Mutation_p.A198T|COL17A1_ENST00000393211.3_Missense_Mutation_p.A198T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	198	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGAGCTCGCTGTCACAATT	0.562																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(592-594)Gcg>Acg		collagen, type XVII, alpha 1							106.0	93.0	98.0					10																	105830199		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105830199C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.592G>A	10.37:g.105830199C>T	ENSP00000340937:p.Ala198Thr					COL17A1_ENST00000369733.3_Missense_Mutation_p.A198T|COL17A1_ENST00000393211.3_Missense_Mutation_p.A198T	p.A198T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	882	-		Colorectal(252;0.103)|Breast(234;0.122)	198			Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.592G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094567	0.56075	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.57436	0.4;0.4;0.4	5.72	5.72	0.89469	.	0.329110	0.21650	N	0.071190	T	0.50803	0.1637	L	0.51422	1.61	0.23440	N	0.997673	P;P;P	0.41848	0.763;0.554;0.651	B;B;B	0.39027	0.288;0.073;0.115	T	0.48885	-0.8995	10	0.30078	T	0.28	-8.615	19.4578	0.94903	0.0:1.0:0.0:0.0	.	198;198;198	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	T	198;198;182;198	ENSP00000340937:A198T;ENSP00000358748:A198T;ENSP00000376905:A198T	ENSP00000340937:A198T	A	-	1	0	COL17A1	105820189	0.996000	0.38824	0.685000	0.30070	0.640000	0.38277	6.726000	0.74758	2.692000	0.91855	0.561000	0.74099	GCG		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		21	22	0	0	0	1	0	21	22				
HAVCR1	26762	broad.mit.edu	37	5	156482274	156482274	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156482274C>T	ENST00000339252.3	-	2	849	c.317G>A	c.(316-318)cGt>cAt	p.R106H	HAVCR1_ENST00000522693.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000544197.1_Missense_Mutation_p.R106H	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGCTCAACACGGCAACAATA	0.418																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(316-318)cGt>cAt		hepatitis A virus cellular receptor 1							95.0	82.0	86.0					5																	156482274		2005	4199	6204	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482274C>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.317G>A	5.37:g.156482274C>T	ENSP00000344844:p.Arg106His					HAVCR1_ENST00000544197.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R106H|HAVCR1_ENST00000522693.1_Missense_Mutation_p.R106H	p.R106H	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	849	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	106			Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.317G>A	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648675	0.47258	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.78	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130891	0.48767	D	0.000179	T	0.78648	0.4316	M	0.82132	2.575	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.81355	-0.0970	10	0.59425	D	0.04	-15.7893	13.9946	0.64388	0.0:0.9262:0.0:0.0738	.	106;106	F1CME6;Q96D42	.;HAVR1_HUMAN	H	106	ENSP00000428524:R106H;ENSP00000427898:R106H;ENSP00000344844:R106H;ENSP00000403333:R106H;ENSP00000440258:R106H;ENSP00000428422:R106H	ENSP00000344844:R106H	R	-	2	0	HAVCR1	156414852	0.974000	0.33945	0.877000	0.34402	0.358000	0.29455	2.399000	0.44495	1.452000	0.47756	-0.143000	0.13931	CGT		0.418	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			32	73	0	0	0	1	0	32	73				
SEMA3F	6405	broad.mit.edu	37	3	50222881	50222881	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50222881G>A	ENST00000002829.3	+	14	1946	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	SEMA3F_ENST00000413852.1_Missense_Mutation_p.G389R|SEMA3F_ENST00000434342.1_Missense_Mutation_p.G457R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	488	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.G488W(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TCCAGACCGCGGGACAGTGCA	0.657																																						ENST00000002829.3																			1	Substitution - Missense(1)	p.G488W(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1462-1464)Ggg>Agg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							94.0	78.0	83.0					3																	50222881		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50222881G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1462G>A	3.37:g.50222881G>A	ENSP00000002829:p.Gly488Arg					SEMA3F_ENST00000434342.1_Missense_Mutation_p.G457R|SEMA3F_ENST00000413852.1_Missense_Mutation_p.G389R	p.G488R	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	14	1946	+			488			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1462G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701654	0.88924	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.70986	-0.53;-0.53;-0.53	4.94	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.149067	0.64402	D	0.000009	D	0.87099	0.6093	M	0.93550	3.43	0.58432	D	0.999999	D;P	0.89917	1.0;0.691	D;B	0.80764	0.994;0.284	D	0.90132	0.4207	10	0.87932	D	0	.	13.3443	0.60564	0.0776:0.0:0.9224:0.0	.	457;488	C9JQ85;Q13275	.;SEM3F_HUMAN	R	389;488;457	ENSP00000388931:G389R;ENSP00000002829:G488R;ENSP00000409859:G457R	ENSP00000002829:G488R	G	+	1	0	SEMA3F	50197885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	1.312000	0.45043	0.448000	0.29417	GGG		0.657	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		4	10	0	0	0	1	0	4	10				
CLN8	2055	broad.mit.edu	37	8	1728597	1728597	+	Missense_Mutation	SNP	C	C	T	rs138821993	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1728597C>T	ENST00000331222.4	+	3	972	c.725C>T	c.(724-726)aCg>aTg	p.T242M	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	242	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCTCTGCTTACGCTAATCATT	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		16682	0.002		0.0	False		,,,				2504	0.0				Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(724-726)aCg>aTg		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							204.0	155.0	172.0					8																	1728597		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728597C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.725C>T	8.37:g.1728597C>T	ENSP00000328182:p.Thr242Met					CLN8_ENST00000523237.1_3'UTR	p.T242M	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	972	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	242			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.725C>T	CCDS5956.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.38	3.375325	0.61735	.	.	ENSG00000182372	ENST00000331222	D	0.92858	-3.12	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.083761	0.47093	U	0.000245	D	0.95921	0.8672	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95013	0.8153	10	0.35671	T	0.21	-15.4057	18.6661	0.91491	0.0:1.0:0.0:0.0	.	242	Q9UBY8	CLN8_HUMAN	M	242	ENSP00000328182:T242M	ENSP00000328182:T242M	T	+	2	0	CLN8	1716004	1.000000	0.71417	0.714000	0.30535	0.003000	0.03518	7.281000	0.78621	2.400000	0.81607	0.650000	0.86243	ACG		0.522	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		44	62	0	0	0	1	0	44	62				
ENPP5	59084	broad.mit.edu	37	6	46135419	46135419	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46135419C>T	ENST00000371383.2	-	3	841	c.581G>A	c.(580-582)gGc>gAc	p.G194D	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.G194D					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATGGTGGCCCATGTCATC	0.413																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(580-582)gGc>gAc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							59.0	60.0	60.0					6																	46135419		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135419C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.581G>A	6.37:g.46135419C>T	ENSP00000360436:p.Gly194Asp					ENPP5_ENST00000230565.3_Missense_Mutation_p.G194D	p.G194D			Q9UJA9	ENPP5_HUMAN			3	841	-			194						Missense_Mutation	SNP	ENST00000371383.2	37	c.581G>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158696	0.78226	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.78707	-1.2;-1.2	5.33	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	H	0.97918	4.105	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94943	0.8093	10	0.87932	D	0	-9.4107	16.3659	0.83321	0.0:0.868:0.132:0.0	.	194;194	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	D	194	ENSP00000360436:G194D;ENSP00000230565:G194D	ENSP00000230565:G194D	G	-	2	0	ENPP5	46243378	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.645000	0.61404	1.369000	0.46134	0.655000	0.94253	GGC		0.413	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			26	43	0	0	0	1	0	26	43				
TRIM71	131405	broad.mit.edu	37	3	32933082	32933082	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32933082C>T	ENST00000383763.5	+	4	2449	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	796					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGTTCCTGCGCCCACAAGG	0.592																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2386-2388)Cgc>Tgc		tripartite motif containing 71, E3 ubiquitin protein ligase							62.0	67.0	65.0					3																	32933082		2027	4199	6226	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933082C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2386C>T	3.37:g.32933082C>T	ENSP00000373272:p.Arg796Cys						p.R796C	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2449	+			796						Missense_Mutation	SNP	ENST00000383763.5	37	c.2386C>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861440	0.51482	.	.	ENSG00000206557	ENST00000383763	T	0.72615	-0.67	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78969	-0.1994	10	0.38643	T	0.18	-25.8896	18.6466	0.91413	0.0:1.0:0.0:0.0	.	796	Q2Q1W2	LIN41_HUMAN	C	796	ENSP00000373272:R796C	ENSP00000373272:R796C	R	+	1	0	TRIM71	32908086	1.000000	0.71417	0.998000	0.56505	0.119000	0.20118	7.737000	0.84957	2.744000	0.94065	0.655000	0.94253	CGC		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		25	45	0	0	0	1	0	25	45				
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:102290602C>T	ENST00000338858.5	-	4	631	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R191H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H			Q96PB7	NOE3_HUMAN	olfactomedin 3	211					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(571-573)cGt>cAt		olfactomedin 3							135.0	129.0	131.0					1																	102290602		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290602C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.632G>A	1.37:g.102290602C>T	ENSP00000345192:p.Arg211His					OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR	p.R191H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	785	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	211					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.572G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513548	0.44763	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88509	-2.37;-2.39;-0.95;0.42	5.86	5.86	0.93980	.	0.053965	0.85682	D	0.000000	T	0.75576	0.3868	N	0.20766	0.605	0.39718	D	0.971433	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.69327	-0.5174	10	0.24483	T	0.36	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	191;211	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	62;191;211;116;211	ENSP00000359121:R191H;ENSP00000345192:R211H;ENSP00000443471:R116H;ENSP00000352867:R211H	ENSP00000345192:R211H	R	-	2	0	OLFM3	102063190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	2.777000	0.95525	0.655000	0.94253	CGT		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	38	0	0	0	1	0	4	38				
C2CD3	26005	broad.mit.edu	37	11	73834034	73834034	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73834034G>A	ENST00000334126.7	-	8	1590	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	C2CD3_ENST00000313663.7_Splice_Site_p.P455L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	455					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGACTTACAGGTGCTGTATA	0.398																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e8+1		C2 calcium-dependent domain containing 3							57.0	59.0	58.0					11																	73834034		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73834034G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1365+1C>T	11.37:g.73834034G>A						C2CD3_ENST00000313663.7_Splice_Site_p.P455_splice	p.P455_splice			Q4AC94	C2CD3_HUMAN			8	1590	-	Breast(11;4.16e-06)		455					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37	c.1365_splice		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499215	0.44455	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.11604	2.76;2.8	5.64	3.77	0.43336	.	0.245594	0.41001	D	0.000975	T	0.15565	0.0375	M	0.66939	2.045	0.45194	D	0.998204	P;P	0.42296	0.544;0.775	B;B	0.42282	0.175;0.382	T	0.01935	-1.1244	10	0.72032	D	0.01	-8.2683	11.4062	0.49900	0.1497:0.0:0.8503:0.0	.	455;455	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	L	455	ENSP00000334379:P455L;ENSP00000323339:P455L	ENSP00000323339:P455L	P	-	2	0	C2CD3	73511682	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	2.900000	0.48687	1.388000	0.46506	-0.142000	0.14014	CCT		0.398	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Missense_Mutation	22	42	0	0	0	1	0	22	42				
SLC7A13	157724	broad.mit.edu	37	8	87242323	87242323	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87242323T>C	ENST00000297524.3	-	1	287	c.184A>G	c.(184-186)Aca>Gca	p.T62A	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.T62A	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	62						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAGTTGATGTCATGGCCAGT	0.473																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(184-186)Aca>Gca		solute carrier family 7 (anionic amino acid transporter), member 13							79.0	72.0	74.0					8																	87242323		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242323T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.184A>G	8.37:g.87242323T>C	ENSP00000297524:p.Thr62Ala					SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.T62A	p.T62A	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	287	-			62					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.184A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356068	0.24598	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.87491	-2.26;-2.26	3.93	1.54	0.23209	Amino acid permease domain (1);	0.764374	0.11569	N	0.550990	T	0.79759	0.4501	L	0.38838	1.175	0.09310	N	1	B;B	0.29432	0.059;0.244	B;B	0.28305	0.064;0.088	T	0.69431	-0.5147	10	0.72032	D	0.01	.	6.9598	0.24591	0.0:0.2013:0.0:0.7987	.	62;62	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	A	62	ENSP00000297524:T62A;ENSP00000410982:T62A	ENSP00000297524:T62A	T	-	1	0	SLC7A13	87311439	0.117000	0.22190	0.000000	0.03702	0.007000	0.05969	1.601000	0.36773	0.335000	0.23614	-0.315000	0.08773	ACA		0.473	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		13	46	0	0	0	1	0	13	46				
COL10A1	1300	broad.mit.edu	37	6	116442996	116442996	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116442996C>A	ENST00000327673.4	-	2	690	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	COL10A1_ENST00000243222.4_Missense_Mutation_p.G95W|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P126H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	95	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTGGCAACCCTGGCTCTCCT	0.602																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(283-285)Ggg>Tgg		collagen, type X, alpha 1							70.0	69.0	69.0					6																	116442996		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442996C>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.283G>T	6.37:g.116442996C>A	ENSP00000327368:p.Gly95Trp					AL121963.1_ENST00000430695.1_Missense_Mutation_p.P126H|COL10A1_ENST00000243222.4_Missense_Mutation_p.G95W|NT5DC1_ENST00000319550.4_Intron	p.G95W			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	690	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	95			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.283G>T	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.129916|3.129916	0.56721|0.56721	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673;ENST00000452729|ENST00000430695	D;D;D|.	0.99369|.	-5.78;-5.78;-5.78|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91503|0.91503	0.7317|0.7317	H|H	0.99590|0.99590	4.645|4.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94679|0.94679	0.7863|0.7863	10|6	0.87932|0.87932	D|D	0|0	.|.	19.8686|19.8686	0.96842|0.96842	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	95|.	Q03692|.	COAA1_HUMAN|.	W|H	95|126	ENSP00000243222:G95W;ENSP00000327368:G95W;ENSP00000411285:G95W|.	ENSP00000243222:G95W|ENSP00000415795:P126H	G|P	-|+	1|2	0|0	COL10A1|AL121963.1	116549689|116549689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	7.818000|7.818000	0.86416|0.86416	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|CCT		0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			23	27	1	0	2.00529e-23	1	2.23482e-23	23	27				
CLPTM1L	81037	broad.mit.edu	37	5	1321902	1321902	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1321902G>A	ENST00000320895.5	-	14	1605	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P281S|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P414S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	450					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AAGAGCTGGGGCAGCATGAAG	0.627																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1348-1350)Ccc>Tcc		CLPTM1-like							61.0	63.0	62.0					5																	1321902		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1321902G>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1348C>T	5.37:g.1321902G>A	ENSP00000313854:p.Pro450Ser					CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P281S|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P414S|CLPTM1L_ENST00000506641.1_5'UTR	p.P450S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	14	1605	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		450					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1348C>T	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966120	0.92855	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.81078	-1.45;-0.52;-0.68	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94970	0.8116	10	0.87932	D	0	-30.3513	16.4928	0.84206	0.0:0.0:1.0:0.0	.	450;281	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	S	450;281;414	ENSP00000313854:P450S;ENSP00000423321:P281S;ENSP00000315196:P414S	ENSP00000313854:P450S	P	-	1	0	CLPTM1L	1374902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.965000	0.93393	2.233000	0.73108	0.555000	0.69702	CCC		0.627	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		13	14	0	0	0	1	0	13	14				
MTF1	4520	broad.mit.edu	37	1	38289411	38289411	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38289411G>A	ENST00000373036.4	-	8	1282	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	381					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAATTGCCGTATCATCTGA	0.453																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1141-1143)aCg>aTg		metal-regulatory transcription factor 1							188.0	147.0	161.0					1																	38289411		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38289411G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1142C>T	1.37:g.38289411G>A	ENSP00000362127:p.Thr381Met						p.T381M	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			8	1282	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	381					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1142C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664063	0.47572	.	.	ENSG00000188786	ENST00000373036	T	0.10573	2.86	5.3	5.3	0.74995	.	0.448523	0.27159	N	0.020655	T	0.12220	0.0297	L	0.40543	1.245	0.09310	N	1	P	0.42337	0.776	B	0.37550	0.253	T	0.08722	-1.0708	10	0.59425	D	0.04	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	381	Q14872	MTF1_HUMAN	M	381	ENSP00000362127:T381M	ENSP00000362127:T381M	T	-	2	0	MTF1	38061998	0.664000	0.27457	0.032000	0.17829	0.943000	0.58893	4.578000	0.60929	2.492000	0.84095	0.563000	0.77884	ACG		0.453	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		9	16	0	0	0	1	0	9	16				
DIO2	1734	broad.mit.edu	37	14	80677658	80677658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:80677658C>T	ENST00000557010.1	-	3	543	c.158G>A	c.(157-159)cGc>cAc	p.R53H	DIO2_ENST00000555750.1_Missense_Mutation_p.R53H|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.R53H|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000438257.4_Missense_Mutation_p.R53H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	53					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGTCAGCATGCGCCGCCACTC	0.587																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(157-159)cGc>cAc		deiodinase, iodothyronine, type II							31.0	34.0	33.0					14																	80677658		2059	4193	6252	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677658C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.158G>A	14.37:g.80677658C>T	ENSP00000451419:p.Arg53His					DIO2_ENST00000422005.3_Missense_Mutation_p.R53H|DIO2_ENST00000555750.1_Missense_Mutation_p.R53H|DIO2_ENST00000438257.4_Missense_Mutation_p.R53H|DIO2_ENST00000557125.1_Intron	p.R53H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	543	-			53					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.158G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622326	0.87460	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.7	5.7	0.88788	.	0.082981	0.45361	D	0.000372	T	0.67998	0.2953	M	0.86343	2.81	0.51012	D	0.999907	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.942;0.998;0.966;0.993	T	0.72940	-0.4139	10	0.87932	D	0	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	53;53;53;53	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	H	53	ENSP00000405854:R53H;ENSP00000451419:R53H;ENSP00000411438:R53H;ENSP00000450980:R53H;ENSP00000451136:R53H	ENSP00000373490:R53H	R	-	2	0	DIO2	79747411	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.780000	0.68956	2.677000	0.91161	0.650000	0.86243	CGC		0.587	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			11	9	0	0	0	1	0	11	9				
KIAA0355	9710	broad.mit.edu	37	19	34791425	34791425	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34791425G>A	ENST00000299505.6	+	2	920	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	16										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TACAAGCGGCGCTTCCTGCTT	0.597																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(46-48)cGc>cAc		KIAA0355							41.0	37.0	38.0					19																	34791425		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791425G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.47G>A	19.37:g.34791425G>A	ENSP00000299505:p.Arg16His						p.R16H	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	920	+	Esophageal squamous(110;0.162)		16					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.47G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745988	0.89663	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71111	-0.4687	9	0.87932	D	0	-2.1836	19.2076	0.93739	0.0:0.0:1.0:0.0	.	16	O15063	K0355_HUMAN	H	16	.	ENSP00000299505:R16H	R	+	2	0	KIAA0355	39483265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.607000	0.88179	0.561000	0.74099	CGC		0.597	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		14	22	0	0	0	1	0	14	22				
WDR72	256764	broad.mit.edu	37	15	53998224	53998224	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53998224C>T	ENST00000396328.1	-	10	1241	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	WDR72_ENST00000557913.1_Silent_p.E331E|WDR72_ENST00000559418.1_Silent_p.E344E|WDR72_ENST00000360509.5_Silent_p.E334E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	334										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTAAAAAGGCTCTTTCCTTT	0.403																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1000-1002)gaG>gaA		WD repeat domain 72							107.0	107.0	107.0					15																	53998224		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998224C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1002G>A	15.37:g.53998224C>T						WDR72_ENST00000557913.1_Silent_p.E331E|WDR72_ENST00000360509.5_Silent_p.E334E|WDR72_ENST00000559418.1_Silent_p.E344E	p.E334E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1241	-			334					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1002G>A	CCDS10151.1																																																																																				0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		10	40	0	0	0	1	0	10	40				
RNF212	285498	broad.mit.edu	37	4	1107206	1107206	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1107206C>A	ENST00000433731.2	-	1	108	c.47G>T	c.(46-48)aGg>aTg	p.R16M	RP11-20I20.2_ENST00000504969.1_RNA|TMED11P_ENST00000502630.1_RNA|RNF212_ENST00000505730.1_5'UTR|RNF212_ENST00000382968.5_Missense_Mutation_p.R16M|RNF212_ENST00000333673.5_Missense_Mutation_p.R16M			Q495C1	RN212_HUMAN	ring finger protein 212	16					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GCACGACGTCCTGTGGGGCGG	0.692																																						ENST00000382968.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(46-48)aGg>aTg		ring finger protein 212							48.0	40.0	43.0					4																	1107206		2194	4297	6491	SO:0001583	missense	285498						zinc ion binding	g.chr4:1107206C>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.47G>T	4.37:g.1107206C>A	ENSP00000389709:p.Arg16Met					RNF212_ENST00000333673.5_Missense_Mutation_p.R16M|RNF212_ENST00000433731.2_Missense_Mutation_p.R16M|RNF212_ENST00000505730.1_5'UTR	p.R16M	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	1	144	-			16					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.47G>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	4.560	0.104047	0.08731	.	.	ENSG00000178222	ENST00000382968;ENST00000433731;ENST00000333673	D;D;D	0.92446	-3.04;-3.04;-3.04	4.28	0.336	0.15958	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	1.384920	0.05252	U	0.514137	D	0.90075	0.6900	L	0.29908	0.895	0.09310	N	1	P;D;D;P	0.59767	0.792;0.986;0.972;0.924	B;P;P;B	0.53861	0.263;0.736;0.668;0.345	T	0.79257	-0.1878	10	0.66056	D	0.02	.	4.5215	0.11960	0.0:0.4093:0.31:0.2807	.	16;16;16;16	Q495C1-2;C9J8N0;Q495C1;Q495C1-5	.;.;RN212_HUMAN;.	M	16	ENSP00000372428:R16M;ENSP00000389709:R16M;ENSP00000327481:R16M	ENSP00000327481:R16M	R	-	2	0	RNF212	1097206	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.386000	0.07370	-0.221000	0.09973	0.585000	0.79938	AGG		0.692	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		13	10	1	0	4.14922e-12	1	4.48033e-12	13	10				
TRIM33	51592	broad.mit.edu	37	1	114968110	114968110	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114968110C>T	ENST00000358465.2	-	9	1739	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	TRIM33_ENST00000450349.2_Silent_p.Q160Q|TRIM33_ENST00000369543.2_Silent_p.Q552Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	552					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTAGGATGCTGTTGTGTTG	0.413			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1654-1656)caG>caA		tripartite motif containing 33							316.0	305.0	309.0					1																	114968110		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968110C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1656G>A	1.37:g.114968110C>T						TRIM33_ENST00000369543.2_Silent_p.Q552Q|TRIM33_ENST00000450349.2_Silent_p.Q160Q	p.Q552Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1739	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	552					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1656G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645848	0.14451	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.34	3.42	0.39159	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45789	-0.9237	4	.	.	.	-2.6096	10.271	0.43483	0.0:0.9022:0.0:0.0978	.	.	.	.	N	289	.	.	S	-	2	0	TRIM33	114769633	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.071000	0.50041	1.172000	0.42781	0.650000	0.86243	AGC		0.413	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		21	159	0	0	0	1	0	21	159				
C8orf58	541565	broad.mit.edu	37	8	22458719	22458719	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22458719G>A	ENST00000289989.5	+	2	439	c.365G>A	c.(364-366)cGc>cAc	p.R122H	C8orf58_ENST00000409586.3_Missense_Mutation_p.R122H|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	122										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GAGCGGTCCCGCCGGCTCCCA	0.657																																						ENST00000409586.3																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(364-366)cGc>cAc		chromosome 8 open reading frame 58							12.0	13.0	13.0					8																	22458719		2179	4284	6463	SO:0001583	missense	541565							g.chr8:22458719G>A	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.365G>A	8.37:g.22458719G>A	ENSP00000289989:p.Arg122His					C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Missense_Mutation_p.R122H	p.R122H	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	485	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	122					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.365G>A	CCDS34862.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648759	0.29336	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.99	-5.26	0.02772	.	1.073720	0.07275	N	0.869796	T	0.25082	0.0609	N	0.17674	0.51	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.23261	-1.0193	9	0.29301	T	0.29	-0.1955	10.8644	0.46847	0.5794:0.0:0.4206:0.0	.	122;50;122	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	H	191;122;122;50	.	ENSP00000399696:R191H	R	+	2	0	AC037459.4;C8orf58	22514664	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.270000	0.08584	-1.437000	0.01967	-0.539000	0.04255	CGC		0.657	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		6	8	0	0	0	1	0	6	8				
KLHL32	114792	broad.mit.edu	37	6	97587107	97587107	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97587107C>T	ENST00000369261.4	+	11	2175	c.1812C>T	c.(1810-1812)tgC>tgT	p.C604C	KLHL32_ENST00000539200.1_Silent_p.C535C|KLHL32_ENST00000544166.1_Silent_p.C160C|KLHL32_ENST00000536676.1_Silent_p.C568C	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	604										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTTTACATGCCCTAACCTTC	0.448																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1810-1812)tgC>tgT		kelch-like family member 32							206.0	166.0	180.0					6																	97587107		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97587107C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1812C>T	6.37:g.97587107C>T						KLHL32_ENST00000539200.1_Silent_p.C535C|KLHL32_ENST00000544166.1_Silent_p.C160C|KLHL32_ENST00000536676.1_Silent_p.C568C	p.C604C	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	11	2175	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	604					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1812C>T	CCDS5038.1																																																																																				0.448	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		31	45	0	0	0	1	0	31	45				
FOXRED1	55572	broad.mit.edu	37	11	126145710	126145710	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126145710G>A	ENST00000263578.5	+	7	829	c.755G>A	c.(754-756)cGc>cAc	p.R252H	FOXRED1_ENST00000442061.2_Missense_Mutation_p.R82H|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R238H|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	252						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCATCTCAACGCATGTTGACC	0.428																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(754-756)cGc>cAc		FAD-dependent oxidoreductase domain containing 1							88.0	78.0	81.0					11																	126145710		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126145710G>A		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.755G>A	11.37:g.126145710G>A	ENSP00000263578:p.Arg252His					FOXRED1_ENST00000442061.2_Missense_Mutation_p.R82H|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R238H	p.R252H	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	7	829	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	252					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.755G>A	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806480	0.31961	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.83250	-1.7;-1.7;-1.7	5.76	-11.5	0.00074	FAD dependent oxidoreductase (1);	1.526470	0.03179	N	0.171776	T	0.68165	0.2971	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.14805	0.002;0.011;0.004	B;B;B	0.13407	0.005;0.007;0.009	T	0.54833	-0.8234	10	0.42905	T	0.14	0.608	6.7826	0.23654	0.4306:0.4001:0.097:0.0723	.	238;119;252	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	H	252;82;238	ENSP00000263578:R252H;ENSP00000404371:R82H;ENSP00000434178:R238H	ENSP00000263578:R252H	R	+	2	0	FOXRED1	125650920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.122000	0.01321	-2.646000	0.00426	-1.967000	0.00467	CGC		0.428	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		18	37	0	0	0	1	0	18	37				
GPAT2	150763	broad.mit.edu	37	2	96690302	96690302	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96690302C>T	ENST00000434632.1	-	16	2001	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	GPAT2_ENST00000359548.4_Silent_p.A514A|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Silent_p.A514A|GPAT2_ENST00000453542.1_Silent_p.A443A			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	514					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GGGCCACGTGCGCCCGCAGCA	0.647																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1540-1542)gcG>gcA		glycerol-3-phosphate acyltransferase 2, mitochondrial							47.0	54.0	52.0					2																	96690302		2112	4226	6338	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690302C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1542G>A	2.37:g.96690302C>T						GPAT2_ENST00000377137.3_Silent_p.A514A|GPAT2_ENST00000453542.1_Silent_p.A443A|GPAT2_ENST00000359548.4_Silent_p.A514A	p.A514A			Q6NUI2	GPAT2_HUMAN			16	2001	-			514					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1542G>A	CCDS42714.1																																																																																				0.647	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	32	0	0	0	1	0	6	32				
NSUN2	54888	broad.mit.edu	37	5	6605395	6605395	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:6605395C>T	ENST00000264670.6	-	15	2039	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E	NSUN2_ENST00000539938.1_Silent_p.E340E|NSUN2_ENST00000506139.1_Silent_p.E541E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	576					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTTCATCTTCTCACTGTTAT	0.498																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1726-1728)gaG>gaA		NOP2/Sun RNA methyltransferase family, member 2							191.0	187.0	188.0					5																	6605395		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605395C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1728G>A	5.37:g.6605395C>T						NSUN2_ENST00000539938.1_Silent_p.E340E|NSUN2_ENST00000506139.1_Silent_p.E541E	p.E576E	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			15	2039	-			576					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.1728G>A	CCDS3869.1																																																																																				0.498	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		35	62	0	0	0	1	0	35	62				
FOXL1	2300	broad.mit.edu	37	16	86612535	86612535	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86612535G>T	ENST00000320241.3	+	1	421	c.206G>T	c.(205-207)aGg>aTg	p.R69M		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	69					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CCCGAGCAGAGGGTCACGCTC	0.647																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(205-207)aGg>aTg		forkhead box L1							84.0	85.0	85.0					16																	86612535		2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612535G>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.206G>T	16.37:g.86612535G>T	ENSP00000326272:p.Arg69Met						p.R69M	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	421	+			69					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.206G>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591267	0.66219	.	.	ENSG00000176678	ENST00000320241	D	0.95482	-3.72	3.78	3.78	0.43462	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.059942	0.64402	U	0.000007	D	0.95947	0.8680	L	0.60067	1.865	0.45452	D	0.998422	D	0.69078	0.997	D	0.79784	0.993	D	0.93821	0.7119	10	0.26408	T	0.33	.	8.5565	0.33485	0.1232:0.0:0.8768:0.0	.	69	Q12952	FOXL1_HUMAN	M	69	ENSP00000326272:R69M	ENSP00000326272:R69M	R	+	2	0	FOXL1	85170036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.835000	0.39181	1.951000	0.56629	0.491000	0.48974	AGG		0.647	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		24	37	1	0	5.35356e-11	1	5.74024e-11	24	37				
KDM5A	5927	broad.mit.edu	37	12	464374	464374	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(820-822)Gca>Aca		lysine (K)-specific demethylase 5A							142.0	134.0	137.0					12																	464374		1868	4100	5968	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464374C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.820G>A	12.37:g.464374C>T	ENSP00000382688:p.Ala274Thr					KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			7	1182	-			274					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.820G>A	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033980	0.54896	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85411	-1.98;-1.79	5.49	4.6	0.57074	.	0.307134	0.34959	N	0.003557	D	0.86719	0.6000	L	0.42245	1.32	0.48975	D	0.999739	P;D;D	0.69078	0.544;0.989;0.997	B;P;P	0.61800	0.042;0.636;0.894	D	0.83361	0.0002	10	0.14656	T	0.56	-2.8505	14.6633	0.68888	0.0:0.9301:0.0:0.0699	.	274;274;274	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	233;274;274	ENSP00000382688:A274T;ENSP00000372265:A274T	ENSP00000372265:A274T	A	-	1	0	KDM5A	334635	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.113000	0.64640	1.495000	0.48549	-0.244000	0.11960	GCA		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		25	46	0	0	0	1	0	25	46				
SLC26A8	116369	broad.mit.edu	37	6	35987305	35987305	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35987305G>A	ENST00000490799.1	-	2	533	c.180C>T	c.(178-180)gtC>gtT	p.V60V	SLC26A8_ENST00000355574.2_Silent_p.V60V|SLC26A8_ENST00000394602.2_Silent_p.V60V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACCGGCACTGGACGTGGTGTC	0.512																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(178-180)gtC>gtT		solute carrier family 26 (anion exchanger), member 8							229.0	171.0	191.0					6																	35987305		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35987305G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.180C>T	6.37:g.35987305G>A						SLC26A8_ENST00000394602.2_Silent_p.V60V|SLC26A8_ENST00000355574.2_Silent_p.V60V	p.V60V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			2	533	-			60						Silent	SNP	ENST00000490799.1	37	c.180C>T	CCDS4813.1																																																																																				0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			7	15	0	0	0	1	0	7	15				
CAMK1D	57118	broad.mit.edu	37	10	12708804	12708804	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12708804G>A	ENST00000378847.3	+	3	631	c.294G>A	c.(292-294)atG>atA	p.M98I	CAMK1D_ENST00000378845.1_Missense_Mutation_p.M98I|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACTTGGTCATGCAGCTGTAAG	0.388																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(292-294)atG>atA		calcium/calmodulin-dependent protein kinase ID							149.0	139.0	142.0					10																	12708804		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12708804G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.294G>A	10.37:g.12708804G>A	ENSP00000368124:p.Met98Ile					CAMK1D_ENST00000487696.1_3'UTR|CAMK1D_ENST00000378845.1_Missense_Mutation_p.M98I	p.M98I	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	3	631	+			98			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.294G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998160	0.74818	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.211695	0.56097	N	0.000038	T	0.68238	0.2979	M	0.81942	2.565	0.80722	D	1	B;P	0.39601	0.447;0.68	B;P	0.54856	0.349;0.762	T	0.70510	-0.4852	10	0.66056	D	0.02	-13.7408	16.9448	0.86228	0.0:0.0:1.0:0.0	.	98;98	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	I	98	ENSP00000368124:M98I;ENSP00000368122:M98I	ENSP00000368122:M98I	M	+	3	0	CAMK1D	12748810	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.674000	0.91191	2.593000	0.87608	0.655000	0.94253	ATG		0.388	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		4	93	0	0	0	1	0	4	93				
CEBPZ	10153	broad.mit.edu	37	2	37454884	37454884	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37454884G>A	ENST00000234170.5	-	2	1597	c.1452C>T	c.(1450-1452)agC>agT	p.S484S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	484					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAAGGGCGCTAAGCATTT	0.368																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1450-1452)agC>agT		CCAAT/enhancer binding protein (C/EBP), zeta							67.0	65.0	65.0					2																	37454884		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37454884G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1452C>T	2.37:g.37454884G>A							p.S484S	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1597	-		all_hematologic(82;0.21)	484					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1452C>T	CCDS1787.1																																																																																				0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		26	45	0	0	0	1	0	26	45				
SIRT6	51548	broad.mit.edu	37	19	4174911	4174911	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4174911G>A	ENST00000337491.2	-	8	835	c.771C>T	c.(769-771)taC>taT	p.Y257Y	SIRT6_ENST00000381935.3_Silent_p.Y185Y|SIRT6_ENST00000601488.1_Missense_Mutation_p.T183M|SIRT6_ENST00000305232.6_Silent_p.Y230Y|SIRT6_ENST00000594279.1_Missense_Mutation_p.T172M	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	257	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCAACGTAGCCATGGA	0.711																																						ENST00000594279.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8						c.(514-516)aCg>aTg		sirtuin 6							23.0	20.0	21.0					19																	4174911		2192	4282	6474	SO:0001819	synonymous_variant	51548				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr19:4174911G>A	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.771C>T	19.37:g.4174911G>A						SIRT6_ENST00000381935.3_Silent_p.Y185Y|SIRT6_ENST00000337491.2_Silent_p.Y257Y|SIRT6_ENST00000305232.6_Silent_p.Y230Y|SIRT6_ENST00000601488.1_Missense_Mutation_p.T183M	p.T172M			Q8N6T7	SIRT6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	8	733	-		Hepatocellular(1079;0.137)	0			Deacetylase sirtuin-type.		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	c.515C>T	CCDS12122.1																																																																																				0.711	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			8	30	0	0	0	1	0	8	30				
ACIN1	22985	broad.mit.edu	37	14	23530642	23530642	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23530642G>A	ENST00000262710.1	-	17	3790	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	ACIN1_ENST00000397341.3_Missense_Mutation_p.R397W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1097W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R428W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1142W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R397W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R396W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1115W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1155	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1155W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCTCCCGCCGCTCCATTTCC	0.677																																						ENST00000262710.1																			1	Substitution - Missense(1)	p.R1155W(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3463-3465)Cgg>Tgg		apoptotic chromatin condensation inducer 1							61.0	65.0	64.0					14																	23530642		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530642G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3463C>T	14.37:g.23530642G>A	ENSP00000262710:p.Arg1155Trp					ACIN1_ENST00000338631.6_Missense_Mutation_p.R428W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R397W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R396W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1097W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1115W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R397W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1142W	p.R1155W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3790	-	all_cancers(95;1.36e-05)		1155			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3463C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083561	0.76642	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.79	3.89	0.44902	.	0.000000	0.36234	N	0.002717	T	0.14874	0.0359	L	0.42245	1.32	0.58432	D	0.999993	P;P;B;B;B	0.37233	0.588;0.453;0.225;0.045;0.045	B;B;B;B;B	0.29524	0.103;0.048;0.028;0.006;0.006	T	0.04607	-1.0939	10	0.87932	D	0	-8.9866	7.7062	0.28650	0.0853:0.0:0.7536:0.1611	.	1142;1155;1115;428;397	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	396;428;397;1155;1115;397;1142	ENSP00000451138:R396W;ENSP00000345541:R428W;ENSP00000350073:R397W;ENSP00000262710:R1155W;ENSP00000405677:R1115W;ENSP00000380502:R397W;ENSP00000451328:R1142W	ENSP00000262710:R1155W	R	-	1	2	ACIN1	22600482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.505000	0.53356	1.358000	0.45922	0.563000	0.77884	CGG		0.677	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	55	0	0	0	1	0	6	55				
GOLGB1	2804	broad.mit.edu	37	3	121409891	121409891	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121409891C>A	ENST00000340645.5	-	14	8430	c.8305G>T	c.(8305-8307)Gca>Tca	p.A2769S	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2774S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2769					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCAACTGTGCCAATTCCTTC	0.408																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8320-8322)Gca>Tca		golgin B1							150.0	136.0	141.0					3																	121409891		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409891C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8305G>T	3.37:g.121409891C>A	ENSP00000341848:p.Ala2769Ser					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2769S	p.A2774S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8430	-			2769					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8320G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	2.866	-0.234974	0.05983	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14893	2.47;2.47	5.3	4.39	0.52855	.	0.207891	0.34200	N	0.004161	T	0.15478	0.0373	M	0.63428	1.95	0.32577	N	0.52905	P;B;B	0.40431	0.717;0.17;0.4	B;B;B	0.41271	0.352;0.117;0.173	T	0.02588	-1.1137	10	0.07482	T	0.82	.	6.8006	0.23748	0.1754:0.7365:0.0:0.0881	.	2774;2774;2769	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	S	2769;2774	ENSP00000341848:A2769S;ENSP00000377275:A2774S	ENSP00000341848:A2769S	A	-	1	0	GOLGB1	122892581	0.515000	0.26210	0.999000	0.59377	0.048000	0.14542	0.220000	0.17660	2.756000	0.94617	0.655000	0.94253	GCA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		39	56	1	0	6.29468e-14	1	6.85409e-14	39	56				
CDC23	8697	broad.mit.edu	37	5	137548685	137548685	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137548685T>C	ENST00000394886.2	-	2	259	c.229A>G	c.(229-231)Aca>Gca	p.T77A	CDC23_ENST00000505120.1_Missense_Mutation_p.T77A|CDC23_ENST00000394884.3_Missense_Mutation_p.T77A	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTACCTCTGTAATAGGCGGA	0.572																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(229-231)Aca>Gca		cell division cycle 23							76.0	78.0	77.0					5																	137548685		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548685T>C	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.229A>G	5.37:g.137548685T>C	ENSP00000378350:p.Thr77Ala					CDC23_ENST00000394884.3_Missense_Mutation_p.T77A|CDC23_ENST00000505120.1_Missense_Mutation_p.T77A	p.T77A	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	259	-			77					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.229A>G	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233290	0.79688	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.47528	0.98;0.98;0.84	5.93	5.93	0.95920	Cdc23 (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.28694	0.88	0.80722	D	1	D;B	0.89917	1.0;0.05	D;B	0.83275	0.996;0.055	T	0.47195	-0.9136	10	0.12103	T	0.63	-12.2552	16.0558	0.80805	0.0:0.0:0.0:1.0	.	77;77	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	A	77	ENSP00000378350:T77A;ENSP00000378348:T77A;ENSP00000423704:T77A	ENSP00000378348:T77A	T	-	1	0	CDC23	137576584	1.000000	0.71417	0.891000	0.34965	0.746000	0.42486	5.794000	0.69067	2.281000	0.76405	0.533000	0.62120	ACA		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			11	33	0	0	0	1	0	11	33				
TSHZ1	10194	broad.mit.edu	37	18	72998426	72998426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72998426C>T	ENST00000580243.1	+	2	1412	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A310V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	355					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAAAAGCGGGCGCTTCAGGAC	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(928-930)gCg>gTg		teashirt zinc finger homeobox 1							78.0	81.0	80.0					18																	72998426		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998426C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1064C>T	18.37:g.72998426C>T	ENSP00000464391:p.Ala355Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A355V	p.A310V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1513	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	355					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.929C>T		.	.	.	.	.	.	.	.	.	.	C	11.50	1.658140	0.29425	.	.	ENSG00000179981	ENST00000322038	T	0.12147	2.71	5.27	5.27	0.74061	.	0.059016	0.64402	D	0.000002	T	0.11024	0.0269	L	0.31845	0.965	0.19300	N	0.999978	B	0.31968	0.349	B	0.20955	0.032	T	0.59451	-0.7452	10	0.30078	T	0.28	-23.5663	12.2676	0.54686	0.0:0.9225:0.0:0.0775	.	355	Q6ZSZ6	TSH1_HUMAN	V	310	ENSP00000323584:A310V	ENSP00000323584:A310V	A	+	2	0	TSHZ1	71127414	1.000000	0.71417	0.000000	0.03702	0.933000	0.57130	5.529000	0.67135	-4.074000	0.00076	-0.258000	0.10820	GCG		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		8	16	0	0	0	1	0	8	16				
SLC22A5	6584	broad.mit.edu	37	5	131724688	131724688	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131724688G>A	ENST00000245407.3	+	6	1248	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.V367I	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	343					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TATCCGGATGGTCACCATCAT	0.463											OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1027-1029)Gtc>Atc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						105.0	86.0	92.0					5																	131724688		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131724688G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1027G>A	5.37:g.131724688G>A	ENSP00000245407:p.Val343Ile		OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1589	SLC22A5_ENST00000435065.2_Missense_Mutation_p.V367I|SLC22A5_ENST00000479605.1_3'UTR	p.V343I	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1248	+		all_cancers(142;0.0751)|Breast(839;0.198)	343					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1027G>A	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	4.744	0.138426	0.09083	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.58060	0.36;0.36	5.85	0.263	0.15602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.241918	0.47455	N	0.000222	T	0.13200	0.0320	N	0.00368	-1.59	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33727	-0.9857	10	0.14656	T	0.56	.	5.2318	0.15426	0.5302:0.1532:0.3166:0.0	.	367;343	A2Q0V1;O76082	.;S22A5_HUMAN	I	343;367	ENSP00000245407:V343I;ENSP00000402760:V367I	ENSP00000245407:V343I	V	+	1	0	SLC22A5	131752587	0.180000	0.23148	0.267000	0.24556	0.900000	0.52787	0.633000	0.24598	0.204000	0.20548	0.655000	0.94253	GTC		0.463	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		14	28	0	0	0	1	0	14	28				
BTNL2	56244	broad.mit.edu	37	6	32363946	32363946	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32363946A>G	ENST00000374993.1	-	5	947	c.948T>C	c.(946-948)agT>agC	p.S316S	BTNL2_ENST00000454136.3_Silent_p.S316S|BTNL2_ENST00000414363.1_Silent_p.S106S|BTNL2_ENST00000374995.3_Silent_p.S222S|BTNL2_ENST00000544175.1_Silent_p.S39S|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Silent_p.S106S|BTNL2_ENST00000429232.2_Silent_p.S223S	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	316	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CAATGGCGTCACTCACCAGTA	0.552																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(946-948)agT>agC		butyrophilin-like 2 (MHC class II associated)							164.0	111.0	130.0					6																	32363946		1511	2707	4218	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32363946A>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.948T>C	6.37:g.32363946A>G						BTNL2_ENST00000429232.2_Silent_p.S223S|BTNL2_ENST00000374993.1_Silent_p.S316S|BTNL2_ENST00000374995.3_Silent_p.S222S|BTNL2_ENST00000544175.1_Silent_p.S39S|BTNL2_ENST00000540315.1_Silent_p.S106S|BTNL2_ENST00000414363.1_Silent_p.S106S	p.S316S			Q9UIR0	BTNL2_HUMAN			5	952	-			316			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.948T>C																																																																																					0.552	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		14	23	0	0	0	1	0	14	23				
IMMT	10989	broad.mit.edu	37	2	86406606	86406606	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86406606C>T	ENST00000410111.3	-	3	646	c.259G>A	c.(259-261)Gag>Aag	p.E87K	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000442664.2_Missense_Mutation_p.E87K|IMMT_ENST00000449247.2_Missense_Mutation_p.E87K|IMMT_ENST00000409051.2_Missense_Mutation_p.E87K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	87					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAACCATCTCGAAGAGTTTG	0.383																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(259-261)Gag>Aag		inner membrane protein, mitochondrial							57.0	53.0	54.0					2																	86406606		1833	4103	5936	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86406606C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.259G>A	2.37:g.86406606C>T	ENSP00000387262:p.Glu87Lys					IMMT_ENST00000449247.2_Missense_Mutation_p.E87K|IMMT_ENST00000409051.2_Missense_Mutation_p.E87K|IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000442664.2_Missense_Mutation_p.E87K	p.E87K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			3	646	-			87					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.259G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656377	0.67586	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.94	4.94	0.65067	.	0.260050	0.38897	N	0.001529	T	0.39358	0.1075	L	0.46157	1.445	0.40865	D	0.98386	P;P;P;P;D;P;P;P;P	0.60160	0.48;0.535;0.535;0.915;0.987;0.633;0.48;0.633;0.535	B;B;B;P;P;B;B;B;B	0.52424	0.207;0.212;0.311;0.461;0.698;0.207;0.207;0.207;0.311	T	0.11372	-1.0590	10	0.20046	T	0.44	-8.9532	18.181	0.89777	0.0:1.0:0.0:0.0	.	87;87;87;87;87;87;87;87;87	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	K	87	ENSP00000396899:E87K;ENSP00000387262:E87K;ENSP00000407788:E87K;ENSP00000387227:E87K	ENSP00000366526:E87K	E	-	1	0	IMMT	86260117	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.783000	0.62403	2.289000	0.77006	0.563000	0.77884	GAG		0.383	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		5	14	0	0	0	1	0	5	14				
OR2F2	135948	broad.mit.edu	37	7	143633212	143633212	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143633212A>G	ENST00000408955.2	+	1	954	c.887A>G	c.(886-888)gAg>gGg	p.E296G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGGAATAAAGAGGTGAAGGGG	0.433																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(886-888)gAg>gGg		olfactory receptor, family 2, subfamily F, member 2							61.0	61.0	61.0					7																	143633212		2052	4254	6306	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633212A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.887A>G	7.37:g.143633212A>G	ENSP00000386222:p.Glu296Gly						p.E296G	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	954	+	Melanoma(164;0.0903)		296					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.887A>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454721	0.43634	.	.	ENSG00000221910	ENST00000408955	T	0.40225	1.04	3.78	3.78	0.43462	.	0.133844	0.33834	N	0.004503	T	0.49626	0.1568	M	0.84156	2.68	0.31511	N	0.663543	P	0.42078	0.77	B	0.43575	0.424	T	0.65319	-0.6197	10	0.87932	D	0	-14.8506	10.7947	0.46453	1.0:0.0:0.0:0.0	.	296	O95006	OR2F2_HUMAN	G	296	ENSP00000386222:E296G	ENSP00000386222:E296G	E	+	2	0	OR2F2	143264145	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.376000	0.59556	1.715000	0.51383	0.402000	0.26972	GAG		0.433	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			21	34	0	0	0	1	0	21	34				
PRR5L	79899	broad.mit.edu	37	11	36467868	36467868	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36467868C>T	ENST00000378867.3	+	8	818	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.R155C|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.R155C	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	155					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GCTGACTATCCGCCAGATCTC	0.597																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(463-465)Cgc>Tgc		proline rich 5 like							57.0	51.0	53.0					11																	36467868		2202	4298	6500	SO:0001583	missense	79899							g.chr11:36467868C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.463C>T	11.37:g.36467868C>T	ENSP00000368144:p.Arg155Cys					PRR5L_ENST00000527487.1_Missense_Mutation_p.R155C|PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.R155C	p.R155C	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			8	818	+			155					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.463C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189887	0.78789	.	.	ENSG00000135362	ENST00000530639;ENST00000378867;ENST00000527487	T;T;T	0.77358	1.01;1.01;-1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89155	0.3526	10	0.87932	D	0	-25.8969	19.1621	0.93537	0.0:1.0:0.0:0.0	.	155;155	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	C	155	ENSP00000435050:R155C;ENSP00000368144:R155C;ENSP00000435241:R155C	ENSP00000368144:R155C	R	+	1	0	PRR5L	36424444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.548000	0.53670	2.649000	0.89929	0.561000	0.74099	CGC		0.597	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		7	17	0	0	0	1	0	7	17				
ZIC1	7545	broad.mit.edu	37	3	147131197	147131197	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:147131197C>T	ENST00000282928.4	+	3	1932	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	401	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCTCTGGCTACGAATCCTCCA	0.617																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1201-1203)taC>taT		Zic family member 1							105.0	94.0	98.0					3																	147131197		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131197C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1203C>T	3.37:g.147131197C>T							p.Y401Y	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			3	1932	+			401			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1203C>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452685	0.12283	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	-0.806	0.10875	.	.	.	.	.	T	0.53286	0.1787	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40156	-0.9578	4	.	.	.	.	7.5551	0.27819	0.0:0.5049:0.0:0.4951	.	.	.	.	M	90	.	.	T	+	2	0	ZIC1	148613887	1.000000	0.71417	0.923000	0.36655	0.657000	0.38888	1.018000	0.30002	-0.758000	0.04690	-0.379000	0.06801	ACG		0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		26	29	0	0	0	1	0	26	29				
MDN1	23195	broad.mit.edu	37	6	90425472	90425472	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90425472G>A	ENST00000369393.3	-	45	6875	c.6760C>T	c.(6760-6762)Cgt>Tgt	p.R2254C	MDN1_ENST00000428876.1_Missense_Mutation_p.R2254C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2254					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCATTCAAACGATCCAACACT	0.478																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6760-6762)Cgt>Tgt		MDN1, midasin homolog (yeast)							136.0	124.0	128.0					6																	90425472		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90425472G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6760C>T	6.37:g.90425472G>A	ENSP00000358400:p.Arg2254Cys					MDN1_ENST00000428876.1_Missense_Mutation_p.R2254C	p.R2254C			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	45	6875	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2254					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6760C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072827	0.76415	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.55588	0.51;0.51	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79240	-0.1885	10	0.72032	D	0.01	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	2254	Q9NU22	MDN1_HUMAN	C	2254	ENSP00000358400:R2254C;ENSP00000413970:R2254C	ENSP00000358400:R2254C	R	-	1	0	MDN1	90482193	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.512000	0.98008	2.736000	0.93811	0.655000	0.94253	CGT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			29	41	0	0	0	1	0	29	41				
OLFML2B	25903	broad.mit.edu	37	1	161954013	161954013	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161954013C>T	ENST00000294794.3	-	8	2128	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	OLFML2B_ENST00000367938.1_Missense_Mutation_p.V52M|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V570M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	569	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTGTATACCACGTGGCCTGTG	0.582																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1705-1707)Gtg>Atg		olfactomedin-like 2B							95.0	83.0	87.0					1																	161954013		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161954013C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1705G>A	1.37:g.161954013C>T	ENSP00000294794:p.Val569Met					OLFML2B_ENST00000367940.2_Missense_Mutation_p.V570M|OLFML2B_ENST00000367938.1_Missense_Mutation_p.V52M	p.V569M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2128	-	all_hematologic(112;0.156)		569			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1705G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360120	0.82353	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91996	-2.95;-2.95;-2.95	5.17	5.17	0.71159	Olfactomedin-like (3);	.	.	.	.	D	0.96534	0.8869	M	0.90977	3.165	0.42333	D	0.992307	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	D	0.97337	0.9954	8	0.87932	D	0	.	16.1511	0.81624	0.0:1.0:0.0:0.0	.	570;569	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	M	569;570;52	ENSP00000294794:V569M;ENSP00000356917:V570M;ENSP00000356915:V52M	ENSP00000294794:V569M	V	-	1	0	OLFML2B	160220637	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	7.677000	0.84024	2.400000	0.81607	0.561000	0.74099	GTG		0.582	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		18	29	0	0	0	1	0	18	29				
DDX58	23586	broad.mit.edu	37	9	32491392	32491392	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32491392G>A	ENST00000379883.2	-	5	755	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.L129F|DDX58_ENST00000379882.1_Missense_Mutation_p.L155F	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	200					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTATCCTCAAGATCTTCTGTT	0.348																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(463-465)Ctt>Ttt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							92.0	86.0	88.0					9																	32491392		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32491392G>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.598C>T	9.37:g.32491392G>A	ENSP00000369213:p.Leu200Phe					DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.L129F|DDX58_ENST00000379883.2_Missense_Mutation_p.L200F|DDX58_ENST00000545044.1_5'UTR	p.L155F			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	4	620	-			200			CARD 2.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.463C>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443099	0.25987	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.37235	1.21;1.21;1.21	4.94	0.344	0.16006	.	0.819210	0.10454	N	0.672759	T	0.24736	0.0600	L	0.34521	1.04	0.09310	N	0.999999	P;P;P	0.46706	0.865;0.883;0.788	P;B;B	0.45558	0.485;0.383;0.291	T	0.13308	-1.0514	10	0.15066	T	0.55	-0.5183	3.52	0.07739	0.0981:0.4236:0.3231:0.1552	.	155;129;200	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	F	155;200;129;200	ENSP00000369212:L155F;ENSP00000369213:L200F;ENSP00000442160:L129F	ENSP00000369212:L155F	L	-	1	0	DDX58	32481392	0.000000	0.05858	0.036000	0.18154	0.013000	0.08279	-0.108000	0.10857	0.489000	0.27749	0.650000	0.86243	CTT		0.348	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		8	21	0	0	0	1	0	8	21				
KDM5A	5927	broad.mit.edu	37	12	404916	404916	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:404916C>T	ENST00000399788.2	-	26	4640	c.4278G>A	c.(4276-4278)gtG>gtA	p.V1426V	KDM5A_ENST00000382815.4_Silent_p.V1426V|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1426					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AACTTCGGGGCACCAAAGGGC	0.438			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(4276-4278)gtG>gtA		lysine (K)-specific demethylase 5A							120.0	115.0	117.0					12																	404916		1840	4081	5921	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:404916C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4278G>A	12.37:g.404916C>T						KDM5A_ENST00000382815.4_Silent_p.V1426V	p.V1426V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			26	4640	-			1426					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.4278G>A	CCDS41736.1																																																																																				0.438	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		45	60	0	0	0	1	0	45	60				
ADCK4	79934	broad.mit.edu	37	19	41209498	41209498	+	Silent	SNP	G	G	A	rs368884308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41209498G>A	ENST00000324464.3	-	9	1048	c.747C>T	c.(745-747)agC>agT	p.S249S	ADCK4_ENST00000243583.6_Silent_p.S208S|ADCK4_ENST00000450541.1_Silent_p.S208S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	249	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TCTGGACATCGCTCTGAATGC	0.642																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(745-747)agC>agT		aarF domain containing kinase 4		G	,	1,4405	2.1+/-5.4	0,1,2202	63.0	63.0	63.0		624,747	-10.1	0.0	19		63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCK4	NM_001142555.2,NM_024876.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	208/504,249/545	41209498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209498G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.747C>T	19.37:g.41209498G>A						ADCK4_ENST00000450541.1_Silent_p.S208S|ADCK4_ENST00000243583.6_Silent_p.S208S	p.S249S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		9	1048	-			249			Protein kinase.		Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.747C>T	CCDS12562.1																																																																																				0.642	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		9	13	0	0	0	1	0	9	13				
ABCC12	94160	broad.mit.edu	37	16	48173142	48173142	+	Missense_Mutation	SNP	C	C	T	rs543162145	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48173142C>T	ENST00000311303.3	-	5	1108	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T|ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	255	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGAAAAAGGCGTACGCCGCA	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19482	0.0		0.0	False		,,,				2504	0.001					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(763-765)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							125.0	114.0	118.0					16																	48173142		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48173142C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.763G>A	16.37:g.48173142C>T	ENSP00000311030:p.Ala255Thr					ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T|ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T	p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			5	1108	-		all_cancers(37;0.0474)|all_lung(18;0.047)	255			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.763G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803115	0.31869	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.89617	-2.54;-2.54;-2.54	5.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.117210	0.56097	D	0.000025	T	0.74839	0.3769	N	0.21240	0.645	0.52501	D	0.999953	P;B	0.44734	0.842;0.014	B;B	0.38921	0.285;0.03	T	0.75277	-0.3374	10	0.02654	T	1	.	6.7966	0.23729	0.2638:0.6539:0.0:0.0823	.	255;255	Q96J65-2;Q96J65	.;MRP9_HUMAN	T	255	ENSP00000311030:A255T;ENSP00000401855:A255T;ENSP00000413046:A255T	ENSP00000311030:A255T	A	-	1	0	ABCC12	46730643	0.067000	0.21026	0.971000	0.41717	0.479000	0.33129	0.252000	0.18278	2.774000	0.95407	0.655000	0.94253	GCC		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		28	35	0	0	0	1	0	28	35				
PRIM2	5558	broad.mit.edu	37	6	57246843	57246843	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57246843T>C	ENST00000607273.1	+	7	657	c.570T>C	c.(568-570)gaT>gaC	p.D190D	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	190					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTGCTGATGCTCTGGATT	0.363																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(568-570)gaT>gaC		primase, DNA, polypeptide 2 (58kDa)							137.0	117.0	123.0					6																	57246843		1922	4148	6070	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57246843T>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.570T>C	6.37:g.57246843T>C						PRIM2_ENST00000389488.2_3'UTR	p.D190D	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	7	657	+			190					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.570T>C																																																																																					0.363	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		5	26	0	0	0	1	0	5	26				
LAD1	3898	broad.mit.edu	37	1	201356061	201356061	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201356061C>T	ENST00000391967.2	-	3	729	c.428G>A	c.(427-429)cGc>cAc	p.R143H	LAD1_ENST00000367313.3_Missense_Mutation_p.R157H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	143						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CAGTCTCCGGCGAGGTGGGAT	0.617																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(427-429)cGc>cAc		ladinin 1							44.0	52.0	50.0					1																	201356061		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201356061C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.428G>A	1.37:g.201356061C>T	ENSP00000375829:p.Arg143His					LAD1_ENST00000367313.3_Missense_Mutation_p.R157H	p.R143H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	729	-			143					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.428G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355411	0.24512	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.19394	2.21;2.15	5.3	2.39	0.29439	.	0.583964	0.16432	N	0.214675	T	0.13372	0.0324	L	0.33485	1.01	0.09310	N	1	B;B	0.32128	0.357;0.163	B;B	0.26693	0.072;0.042	T	0.16988	-1.0384	10	0.36615	T	0.2	-7.2347	7.5006	0.27516	0.0:0.7269:0.0:0.2731	.	157;143	E9PDI4;O00515	.;LAD1_HUMAN	H	143;157	ENSP00000375829:R143H;ENSP00000356282:R157H	ENSP00000356282:R157H	R	-	2	0	LAD1	199622684	0.013000	0.17824	0.173000	0.22940	0.458000	0.32498	0.189000	0.17037	0.220000	0.20860	0.655000	0.94253	CGC		0.617	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		22	56	0	0	0	1	0	22	56				
LPIN1	23175	broad.mit.edu	37	2	11905843	11905843	+	Missense_Mutation	SNP	G	G	A	rs140179571		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11905843G>A	ENST00000256720.2	+	2	269	c.176G>A	c.(175-177)cGc>cAc	p.R59H	MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396098.1_Missense_Mutation_p.R65H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R65H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R108H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R65H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	59	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R59H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGGGTCCTGCGCTCCCGAGAG	0.572																																						ENST00000256720.2																			1	Substitution - Missense(1)	p.R59H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(175-177)cGc>cAc		lipin 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	74.0	76.0		176	4.9	1.0	2	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LPIN1	NM_145693.1	29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	59/891	11905843	4,13002	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11905843G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.176G>A	2.37:g.11905843G>A	ENSP00000256720:p.Arg59His					LPIN1_ENST00000396098.1_Missense_Mutation_p.R65H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R108H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R65H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R65H	p.R59H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	2	269	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59			N-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.176G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899858	0.91962	4.54E-4	2.33E-4	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.92	4.92	0.64577	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.985;1.0;0.971	D	0.89260	0.3597	9	.	.	.	-24.7433	18.149	0.89668	0.0:0.0:1.0:0.0	.	108;59;65	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	H	108;65;65;65;59;59	ENSP00000397908:R108H;ENSP00000379405:R65H;ENSP00000379406:R65H;ENSP00000401522:R65H;ENSP00000256720:R59H;ENSP00000412578:R59H	.	R	+	2	0	LPIN1	11823294	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.251000	0.95483	2.284000	0.76573	0.563000	0.77884	CGC		0.572	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		27	24	0	0	0	1	0	27	24				
AHNAK	79026	broad.mit.edu	37	11	62285540	62285540	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62285540G>A	ENST00000378024.4	-	5	16623	c.16349C>T	c.(16348-16350)cCg>cTg	p.P5450L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5450					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATTCGGTGCTGAAAT	0.562																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(16348-16350)cCg>cTg		AHNAK nucleoprotein							85.0	85.0	85.0					11																	62285540		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285540G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16349C>T	11.37:g.62285540G>A	ENSP00000367263:p.Pro5450Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P5450L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	16623	-		Melanoma(852;0.155)	5450					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16349C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666742	0.47677	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.88	3.94	0.45596	.	0.167110	0.28236	U	0.016099	T	0.31009	0.0783	M	0.92169	3.28	0.47094	D	0.999311	D	0.89917	1.0	D	0.87578	0.998	T	0.19160	-1.0314	10	0.62326	D	0.03	-2.6353	11.2726	0.49148	0.0:0.0:0.6688:0.3312	.	5450	Q09666	AHNK_HUMAN	L	5450	ENSP00000367263:P5450L	ENSP00000367263:P5450L	P	-	2	0	AHNAK	62042116	1.000000	0.71417	0.469000	0.27204	0.543000	0.35085	6.446000	0.73460	0.986000	0.38683	0.453000	0.30009	CCG		0.562	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	70	0	0	0	1	0	6	70				
TSHZ2	128553	broad.mit.edu	37	20	51870105	51870105	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51870105C>T	ENST00000371497.5	+	2	995	c.108C>T	c.(106-108)agC>agT	p.S36S	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.S33S|TSHZ2_ENST00000603338.2_Silent_p.S33S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	36					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S36S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaCAGCGGTTCAGTAG	0.527																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.S36S(1)	large_intestine(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(106-108)agC>agT		teashirt zinc finger homeobox 2							64.0	61.0	62.0					20																	51870105		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870105C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.108C>T	20.37:g.51870105C>T						TSHZ2_ENST00000329613.6_Silent_p.S33S|TSHZ2_ENST00000603338.2_Silent_p.S33S	p.S36S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	995	+			36					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.108C>T	CCDS33490.1																																																																																				0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		8	10	0	0	0	1	0	8	10				
ATP2A3	489	broad.mit.edu	37	17	3850872	3850872	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3850872G>A	ENST00000352011.3	-	8	962	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A303V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A303V			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	303					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCCGCCACCGCCAGGGCCAC	0.682																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(907-909)gCg>gTg		ATPase, Ca++ transporting, ubiquitous							35.0	35.0	35.0					17																	3850872		2203	4297	6500	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850872G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.908C>T	17.37:g.3850872G>A	ENSP00000301387:p.Ala303Val					ATP2A3_ENST00000397043.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A303V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A303V	p.A303V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1058	-			303					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.908C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555675	0.86231	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	3.76	3.76	0.43208	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D	0.89917	0.988;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D	0.72982	0.326;0.965;0.979;0.965;0.965;0.965	D	0.96489	0.9362	10	0.87932	D	0	.	15.8289	0.78736	0.0:0.0:1.0:0.0	.	303;303;303;303;303;303	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	V	303	ENSP00000380236:A303V;ENSP00000301387:A303V;ENSP00000353072:A303V;ENSP00000380234:A303V;ENSP00000312577:A303V;ENSP00000380229:A303V	ENSP00000312577:A303V	A	-	2	0	ATP2A3	3797621	1.000000	0.71417	0.997000	0.53966	0.649000	0.38597	9.595000	0.98260	2.363000	0.80096	0.467000	0.42956	GCG		0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		18	19	0	0	0	1	0	18	19				
ZNF496	84838	broad.mit.edu	37	1	247464531	247464531	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247464531T>C	ENST00000294753.4	-	9	1518	c.1054A>G	c.(1054-1056)Acc>Gcc	p.T352A	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.T388A	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	352					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATCTCGATGGTCACTTCTTCA	0.612																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1054-1056)Acc>Gcc		zinc finger protein 496							71.0	79.0	76.0					1																	247464531		2168	4253	6421	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464531T>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1054A>G	1.37:g.247464531T>C	ENSP00000294753:p.Thr352Ala					ZNF496_ENST00000366498.2_Missense_Mutation_p.T388A|ZNF496_ENST00000462139.1_5'UTR	p.T352A	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1518	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		352					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1054A>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	2.447	-0.327238	0.05350	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06933	3.24;3.25	4.65	2.24	0.28232	.	0.390052	0.22132	N	0.064161	T	0.06005	0.0156	L	0.27053	0.805	0.25038	N	0.991227	P;B	0.40431	0.717;0.131	B;B	0.41271	0.352;0.04	T	0.35425	-0.9789	10	0.21540	T	0.41	-27.2918	7.1263	0.25473	0.5258:0.0:0.0:0.4742	.	388;352	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	A	352;388	ENSP00000294753:T352A;ENSP00000355454:T388A	ENSP00000294753:T352A	T	-	1	0	ZNF496	245531154	0.911000	0.30947	1.000000	0.80357	0.285000	0.27093	0.900000	0.28431	0.342000	0.23796	-0.333000	0.08304	ACC		0.612	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		15	26	0	0	0	1	0	15	26				
PPP1R36	145376	broad.mit.edu	37	14	65031490	65031490	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65031490C>T	ENST00000298705.1	+	4	300	c.204C>T	c.(202-204)gtC>gtT	p.V68V	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	68					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGCAGAAGTCAAGGAAAAAG	0.398																																						ENST00000298705.1																			0											c.(202-204)gtC>gtT		protein phosphatase 1, regulatory subunit 36							167.0	168.0	167.0					14																	65031490		2203	4300	6503	SO:0001819	synonymous_variant	145376							g.chr14:65031490C>T		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.204C>T	14.37:g.65031490C>T						RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	p.V68V	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			4	300	+			68					Q6NTH6	Silent	SNP	ENST00000298705.1	37	c.204C>T	CCDS9767.1																																																																																				0.398	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		40	68	0	0	0	1	0	40	68				
CACNA1E	777	broad.mit.edu	37	1	181706764	181706764	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181706764G>A	ENST00000367573.2	+	23	3526	c.3526G>A	c.(3526-3528)Gtc>Atc	p.V1176I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V783I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1176I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1157I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1157I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1108I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1127I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1176					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGGACCCCGTCCTGACCAA	0.617																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3469-3471)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit							97.0	103.0	101.0					1																	181706764		2067	4213	6280	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181706764G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3526G>A	1.37:g.181706764G>A	ENSP00000356545:p.Val1176Ile					CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1176I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1157I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V783I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1176I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1127I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1108I	p.V1157I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			22	3634	+			1176					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3469G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380647	0.95945	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000003	D	0.97318	0.9123	L	0.35288	1.05	0.80722	D	1	P;D;D	0.71674	0.769;0.975;0.998	B;P;D	0.73708	0.341;0.48;0.981	D	0.97823	1.0258	10	0.51188	T	0.08	.	19.1775	0.93609	0.0:0.0:1.0:0.0	.	1157;1176;1176	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1176;1157;1127;1108;783;1157;1176	ENSP00000356542:V1176I;ENSP00000434814:V1157I;ENSP00000350183:V1127I;ENSP00000351101:V1108I;ENSP00000356539:V783I;ENSP00000353222:V1157I;ENSP00000356545:V1176I	ENSP00000350183:V1127I	V	+	1	0	CACNA1E	179973387	1.000000	0.71417	0.930000	0.37139	0.963000	0.63663	9.668000	0.98619	2.614000	0.88457	0.555000	0.69702	GTC		0.617	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		32	40	0	0	0	1	0	32	40				
CCAR2	57805	broad.mit.edu	37	8	22472943	22472943	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22472943G>A	ENST00000308511.4	+	12	1460	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	CCAR2_ENST00000389279.3_Missense_Mutation_p.R404H|CCAR2_ENST00000520861.1_Missense_Mutation_p.R79H|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	404					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TGCAGGTGGCGCTTTGCCGAG	0.567																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1210-1212)cGc>cAc									72.0	81.0	78.0					8																	22472943		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472943G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1211G>A	8.37:g.22472943G>A	ENSP00000310670:p.Arg404His					KIAA1967_ENST00000389279.3_Missense_Mutation_p.R404H|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Missense_Mutation_p.R79H	p.R404H			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	12	1460	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	404					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.1211G>A	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.291890|5.291890	0.95546|0.95546	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000520738|ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599	.|T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.090044	.|0.45126	.|D	.|0.000390	T|T	0.65873|0.65873	0.2733|0.2733	L|L	0.58510|0.58510	1.815|1.815	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.65841|0.65841	-0.6070|-0.6070	5|10	.|0.59425	.|D	.|0.04	-16.3802|-16.3802	16.6817|16.6817	0.85294|0.85294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|79;404	.|G3V119;Q8N163	.|.;K1967_HUMAN	T|H	96|404;404;79;222	.|ENSP00000310670:R404H;ENSP00000373930:R404H;ENSP00000429773:R79H;ENSP00000429739:R222H	.|ENSP00000310670:R404H	A|R	+|+	1|2	0|0	KIAA1967|KIAA1967	22528888|22528888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	8.890000|8.890000	0.92477|0.92477	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.567	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		29	68	0	0	0	1	0	29	68				
ZC3H3	23144	broad.mit.edu	37	8	144620919	144620919	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144620919G>A	ENST00000262577.5	-	2	649	c.618C>T	c.(616-618)ggC>ggT	p.G206G		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	206					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGCCCACACTGCCCACTGACT	0.642																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(616-618)ggC>ggT		zinc finger CCCH-type containing 3							28.0	25.0	26.0					8																	144620919		2199	4297	6496	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620919G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.618C>T	8.37:g.144620919G>A							p.G206G	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	649	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		206					Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.618C>T	CCDS6402.1																																																																																				0.642	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		5	13	0	0	0	1	0	5	13				
FAM71A	149647	broad.mit.edu	37	1	212799339	212799339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212799339G>T	ENST00000294829.3	+	1	1551	c.1120G>T	c.(1120-1122)Gga>Tga	p.G374*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	374	Ala-rich.					nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCCATTGCAGGAGTAGTACT	0.612																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1120-1122)Gga>Tga		family with sequence similarity 71, member A							62.0	66.0	65.0					1																	212799339		2203	4300	6503	SO:0001587	stop_gained	149647							g.chr1:212799339G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1120G>T	1.37:g.212799339G>T	ENSP00000294829:p.Gly374*					RP11-338C15.5_ENST00000427949.1_RNA	p.G374*	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1551	+			374			Ala-rich.		Q5VTZ1	Nonsense_Mutation	SNP	ENST00000294829.3	37	c.1120G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	37	6.586205	0.97684	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	.	.	.	4.43	-0.279	0.12890	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.6847	6.8131	0.23814	0.5208:0.0:0.4792:0.0	.	.	.	.	X	374;149	.	ENSP00000294829:G374X	G	+	1	0	FAM71A	210865962	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.135000	0.11495	0.655000	0.94253	GGA		0.612	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		8	22	1	0	5.18039e-06	1	5.37127e-06	8	22				
CHRNA10	57053	broad.mit.edu	37	11	3687407	3687407	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3687407C>T	ENST00000250699.2	-	5	1354	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	428					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CAGGAAGAAGCGGTCCATCAC	0.622																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1282-1284)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						62.0	62.0	62.0					11																	3687407		2201	4298	6499	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687407C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1283G>A	11.37:g.3687407C>T	ENSP00000250699:p.Arg428His					CHRNA10_ENST00000534359.1_3'UTR	p.R428H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1354	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	428						Missense_Mutation	SNP	ENST00000250699.2	37	c.1283G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149241	0.94645	.	.	ENSG00000129749	ENST00000250699	T	0.76578	-1.03	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000014	D	0.89332	0.6685	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89968	0.4091	10	0.66056	D	0.02	.	18.5213	0.90954	0.0:1.0:0.0:0.0	.	428	Q9GZZ6	ACH10_HUMAN	H	428	ENSP00000250699:R428H	ENSP00000250699:R428H	R	-	2	0	CHRNA10	3643983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.715000	0.92844	0.561000	0.74099	CGC		0.622	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			8	32	0	0	0	1	0	8	32				
SIRT1	23411	broad.mit.edu	37	10	69676052	69676052	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69676052G>A	ENST00000212015.6	+	9	1999	c.1946G>A	c.(1945-1947)cGt>cAt	p.R649H	SIRT1_ENST00000403579.1_Missense_Mutation_p.R346H|SIRT1_ENST00000406900.1_Missense_Mutation_p.R346H|SIRT1_ENST00000432464.1_Missense_Mutation_p.R354H	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	649					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CCACCAAATCGTTACATTTTC	0.393																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1945-1947)cGt>cAt		sirtuin 1							113.0	109.0	111.0					10																	69676052		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69676052G>A	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1946G>A	10.37:g.69676052G>A	ENSP00000212015:p.Arg649His					SIRT1_ENST00000432464.1_Missense_Mutation_p.R354H|SIRT1_ENST00000406900.1_Missense_Mutation_p.R346H|SIRT1_ENST00000403579.1_Missense_Mutation_p.R346H	p.R649H	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			9	1999	+			649					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1946G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900603	0.72754	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.98	5.98	0.97165	.	0.063315	0.64402	D	0.000004	T	0.48804	0.1520	M	0.64404	1.975	0.58432	D	0.999998	D;D	0.53745	0.962;0.962	B;B	0.38562	0.276;0.233	T	0.57676	-0.7770	10	0.87932	D	0	-13.2736	20.0685	0.97708	0.0:0.0:1.0:0.0	.	346;649	B0QZ35;Q96EB6	.;SIRT1_HUMAN	H	649;354;346;346	ENSP00000212015:R649H;ENSP00000409208:R354H;ENSP00000384508:R346H;ENSP00000384063:R346H	ENSP00000212015:R649H	R	+	2	0	SIRT1	69346058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.082000	0.57635	2.835000	0.97688	0.650000	0.86243	CGT		0.393	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			42	58	0	0	0	1	0	42	58				
TRPM6	140803	broad.mit.edu	37	9	77415342	77415342	+	Missense_Mutation	SNP	C	C	T	rs375390431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77415342C>T	ENST00000360774.1	-	17	2303	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R684H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R684H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R689H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R689H|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGCCATGCGCTCATTCTG	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2065-2067)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							115.0	95.0	102.0					9																	77415342		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415342C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2066G>A	9.37:g.77415342C>T	ENSP00000354006:p.Arg689His					TRPM6_ENST00000360774.1_Missense_Mutation_p.R689H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R684H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R689H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R684H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron	p.R689H			Q9BX84	TRPM6_HUMAN			17	2303	-			689					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2066G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204479	0.79127	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	6.06	2.93	0.34026	.	0.489513	0.24247	N	0.040205	T	0.74053	0.3666	L	0.43152	1.355	0.21762	N	0.999558	B;D;B	0.54397	0.11;0.966;0.264	B;B;B	0.43331	0.027;0.416;0.04	T	0.67329	-0.5698	10	0.59425	D	0.04	.	4.3403	0.11106	0.0:0.414:0.2317:0.3543	.	352;689;684	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	689;689;684;684;689;352;352	ENSP00000354006:R689H;ENSP00000407341:R689H;ENSP00000396672:R684H;ENSP00000354962:R684H;ENSP00000366060:R689H	ENSP00000309693:R352H	R	-	2	0	TRPM6	76605162	0.035000	0.19736	0.985000	0.45067	0.982000	0.71751	0.354000	0.20146	0.711000	0.32018	0.650000	0.86243	CGC		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		32	35	0	0	0	1	0	32	35				
PARP10	84875	broad.mit.edu	37	8	145051962	145051962	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145051962C>T	ENST00000313028.7	-	11	2862	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	PLEC_ENST00000527096.1_5'Flank|PLEC_ENST00000436759.2_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.R914H|PARP10_ENST00000525773.1_Missense_Mutation_p.R935H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	923	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGAGGCGCGCCTGGCGAA	0.716																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2767-2769)cGc>cAc		poly (ADP-ribose) polymerase family, member 10							13.0	12.0	12.0					8																	145051962		2174	4279	6453	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145051962C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2768G>A	8.37:g.145051962C>T	ENSP00000325618:p.Arg923His					PARP10_ENST00000525773.1_Missense_Mutation_p.R935H|PARP10_ENST00000524918.1_Missense_Mutation_p.R914H	p.R923H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	2862	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		923			PARP catalytic.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2768G>A	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779415	0.70107	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.14144	2.53;2.53;2.53	5.24	0.812	0.18744	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.685022	0.12754	N	0.441938	T	0.17195	0.0413	N	0.17872	0.535	0.09310	N	0.999998	P;D	0.69078	0.639;0.997	B;D	0.67900	0.054;0.954	T	0.14868	-1.0457	10	0.48119	T	0.1	.	6.5502	0.22429	0.0:0.4009:0.0:0.5991	.	935;923	E9PNI7;Q53GL7	.;PAR10_HUMAN	H	914;629;923;935	ENSP00000431620:R914H;ENSP00000325618:R923H;ENSP00000434776:R935H	ENSP00000325618:R923H	R	-	2	0	PARP10	145123950	0.001000	0.12720	0.841000	0.33234	0.519000	0.34347	1.072000	0.30678	0.235000	0.21160	0.558000	0.71614	CGC		0.716	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		5	7	0	0	0	1	0	5	7				
RCE1	9986	broad.mit.edu	37	11	66613420	66613420	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66613420C>T	ENST00000309657.3	+	8	888	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	RCE1_ENST00000525356.1_Missense_Mutation_p.R159W|RCE1_ENST00000524506.1_Missense_Mutation_p.R261W|PC_ENST00000528224.1_5'Flank	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	282					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCCACAGAGGCGGCCCCTGCT	0.612																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(844-846)Cgg>Tgg		Ras converting CAAX endopeptidase 1							93.0	91.0	92.0					11																	66613420		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66613420C>T	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.844C>T	11.37:g.66613420C>T	ENSP00000309163:p.Arg282Trp					RCE1_ENST00000525356.1_Missense_Mutation_p.R159W|RCE1_ENST00000524506.1_Missense_Mutation_p.R261W	p.R282W	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			8	888	+			282					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.844C>T	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892027	0.33442	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	5.24	-1.92	0.07618	.	1.073260	0.07148	N	0.848530	T	0.22898	0.0553	N	0.08118	0	0.28987	N	0.88827	B	0.02656	0.0	B	0.01281	0.0	T	0.26155	-1.0111	9	0.35671	T	0.21	-0.7222	10.6301	0.45532	0.0:0.3789:0.0:0.6211	.	282	Q9Y256	FACE2_HUMAN	W	282;261;159	.	ENSP00000309163:R282W	R	+	1	2	RCE1	66369996	0.910000	0.30920	0.992000	0.48379	0.991000	0.79684	0.033000	0.13754	-0.249000	0.09569	-0.140000	0.14226	CGG		0.612	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		6	88	0	0	0	1	0	6	88				
CYP4A22	284541	broad.mit.edu	37	1	47610366	47610366	+	Missense_Mutation	SNP	C	C	T	rs372905572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47610366C>T	ENST00000371891.3	+	8	1073	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R348W|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	348						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGAGGTGCCGGGAGGAGAT	0.612																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1042-1044)Cgg>Tgg		cytochrome P450, family 4, subfamily A, polypeptide 22		C	TRP/ARG	0,4406		0,0,2203	63.0	62.0	63.0		1042	1.5	1.0	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	348/520	47610366	1,13005	2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610366C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1042C>T	1.37:g.47610366C>T	ENSP00000360958:p.Arg348Trp					CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R348W|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.R348W	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			8	1073	+			348					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1042C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541841	0.45280	0.0	1.16E-4	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.73258	-0.73;-0.73	1.51	1.51	0.23008	.	0.051976	0.85682	D	0.000000	T	0.81992	0.4940	M	0.85542	2.76	0.43444	D	0.995627	D	0.89917	1.0	D	0.91635	0.999	T	0.81540	-0.0886	10	0.87932	D	0	.	7.5535	0.27810	0.3439:0.6561:0.0:0.0	.	348	Q5TCH4	CP4AM_HUMAN	W	348	ENSP00000360958:R348W;ENSP00000294337:R348W	ENSP00000294337:R348W	R	+	1	2	CYP4A22	47382953	0.992000	0.36948	0.962000	0.40283	0.190000	0.23558	0.406000	0.21032	0.842000	0.35045	0.194000	0.17425	CGG		0.612	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		12	28	0	0	0	1	0	12	28				
AMPD1	270	broad.mit.edu	37	1	115231344	115231344	+	Missense_Mutation	SNP	C	C	T	rs140601541		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:115231344C>T	ENST00000520113.2	-	3	167	c.152G>A	c.(151-153)cGc>cAc	p.R51H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18H|AMPD1_ENST00000369538.3_Missense_Mutation_p.R47H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	51					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R18H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGCAAAGTTGCGCATTGCATC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22315	0.001		0.0	False		,,,				2504	0.0					ENST00000369538.3																			1	Substitution - Missense(1)	p.R18H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(139-141)cGc>cAc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	128.0	129.0		152,140	5.5	0.4	1	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	51/781,47/777	115231344	2,13004	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231344C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.152G>A	1.37:g.115231344C>T	ENSP00000430075:p.Arg51His					AMPD1_ENST00000520113.2_Missense_Mutation_p.R51H|AMPD1_ENST00000353928.6_Missense_Mutation_p.R18H	p.R47H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	187	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	18					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.140G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578716	0.65878	2.27E-4	1.16E-4	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.55760	0.5;0.5;0.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65140	0.908;0.932	T	0.62431	-0.6856	10	0.87932	D	0	-14.4529	19.7739	0.96383	0.0:1.0:0.0:0.0	.	47;18	Q5TF02;P23109	.;AMPD1_HUMAN	H	51;47;18	ENSP00000430075:R51H;ENSP00000358551:R47H;ENSP00000316520:R18H	ENSP00000316520:R18H	R	-	2	0	AMPD1	115032867	1.000000	0.71417	0.400000	0.26346	0.139000	0.21198	7.303000	0.78871	2.744000	0.94065	0.655000	0.94253	CGC		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			25	63	0	0	0	1	0	25	63				
CRLF1	9244	broad.mit.edu	37	19	18709605	18709605	+	Silent	SNP	G	G	A	rs376052792		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18709605G>A	ENST00000392386.3	-	3	697	c.504C>T	c.(502-504)aaC>aaT	p.N168N		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	168	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGAGGGAGTAGTTGGTGTGGA	0.602																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(502-504)aaC>aaT		cytokine receptor-like factor 1							120.0	91.0	101.0					19																	18709605		2203	4300	6503	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18709605G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.504C>T	19.37:g.18709605G>A							p.N168N	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			3	697	-			168			Fibronectin type-III 1.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.504C>T	CCDS32962.1																																																																																				0.602	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			8	17	0	0	0	1	0	8	17				
PMS2	5395	broad.mit.edu	37	7	6043354	6043354	+	Missense_Mutation	SNP	C	C	T	rs63751284		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6043354C>T	ENST00000265849.7	-	4	425	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000441476.2_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R107Q|PMS2_ENST00000382321.4_Missense_Mutation_p.R107Q|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	107					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTCCCCCCGAAAGCCAAA	0.408			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(319-321)cGg>cAg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							54.0	62.0	59.0					7																	6043354		1394	2380	3774	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043354C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.320G>A	7.37:g.6043354C>T	ENSP00000265849:p.Arg107Gln					PMS2_ENST00000441476.2_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.R107Q|PMS2_ENST00000406569.3_Missense_Mutation_p.R107Q	p.R107Q	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	4	425	-		Ovarian(82;0.0694)	107					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.320G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	37	6.129587	0.97310	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	T;T;T	0.75704	-0.96;-0.96;-0.96	5.68	5.68	0.88126	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);DNA mismatch repair, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	H	0.94542	3.55	0.80722	D	1	D;P;D	0.76494	0.999;0.773;0.997	P;B;P	0.61658	0.892;0.063;0.848	D	0.92091	0.5680	10	0.87932	D	0	-14.0661	19.781	0.96416	0.0:1.0:0.0:0.0	rs63751284	107;107;107	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	Q	107;60;107;107	ENSP00000265849:R107Q;ENSP00000371758:R107Q;ENSP00000384308:R107Q	ENSP00000265849:R107Q	R	-	2	0	PMS2	6009880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.675000	0.91044	0.484000	0.47621	CGG		0.408	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		22	35	0	0	0	1	0	22	35				
FRMPD1	22844	broad.mit.edu	37	9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A1391T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCACCACCGCACCCCTGTC	0.662																																						ENST00000539465.1																			1	Substitution - Missense(1)	p.A1391T(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Gca>Aca		FERM and PDZ domain containing 1							31.0	37.0	35.0					9																	37746200		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746200G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4171G>A	9.37:g.37746200G>A	ENSP00000444411:p.Ala1391Thr					RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T	p.A1391T			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4764	+			1391					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4171G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610757	0.03690	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06608	3.28;3.28	5.3	4.39	0.52855	.	1.000500	0.08067	N	0.999257	T	0.03305	0.0096	N	0.08118	0	0.19575	N	0.999967	B	0.27679	0.185	B	0.17722	0.019	T	0.35375	-0.9791	10	0.17832	T	0.49	-1.3239	6.7298	0.23377	0.0936:0.1812:0.7251:0.0	.	1391	Q5SYB0	FRPD1_HUMAN	T	1391	ENSP00000366995:A1391T;ENSP00000444411:A1391T	ENSP00000366995:A1391T	A	+	1	0	FRMPD1	37736200	0.008000	0.16893	0.010000	0.14722	0.003000	0.03518	1.688000	0.37690	2.475000	0.83589	0.655000	0.94253	GCA		0.662	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		31	6	0	0	0	1	0	31	6				
RFC1	5981	broad.mit.edu	37	4	39318570	39318570	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39318570C>T	ENST00000381897.1	-	10	1301	c.1168G>A	c.(1168-1170)Ggt>Agt	p.G390S	RFC1_ENST00000349703.2_Missense_Mutation_p.G390S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	390					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTTGGGACCTTCTCGATTT	0.443																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1168-1170)Ggt>Agt		replication factor C (activator 1) 1, 145kDa							141.0	141.0	141.0					4																	39318570		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39318570C>T	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1168G>A	4.37:g.39318570C>T	ENSP00000371321:p.Gly390Ser					RFC1_ENST00000349703.2_Missense_Mutation_p.G390S	p.G390S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			10	1301	-			390					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1168G>A	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431480	0.96150	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.43294	2.49;2.5;0.95	5.78	5.78	0.91487	.	0.046014	0.85682	D	0.000000	T	0.65333	0.2681	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.909;1.0	T	0.58532	-0.7620	10	0.28530	T	0.3	-18.279	20.0109	0.97448	0.0:1.0:0.0:0.0	.	390;390	P35251;P35251-2	RFC1_HUMAN;.	S	390;390;22	ENSP00000371321:G390S;ENSP00000261424:G390S;ENSP00000422129:G22S	ENSP00000261424:G390S	G	-	1	0	RFC1	38994965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.547000	0.82146	2.738000	0.93877	0.591000	0.81541	GGT		0.443	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		23	29	0	0	0	1	0	23	29				
NEB	4703	broad.mit.edu	37	2	152515628	152515628	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152515628T>C	ENST00000172853.10	-	47	6173	c.6026A>G	c.(6025-6027)gAt>gGt	p.D2009G	NEB_ENST00000603639.1_Missense_Mutation_p.D2009G|NEB_ENST00000427231.2_Missense_Mutation_p.D2009G|NEB_ENST00000397345.3_Missense_Mutation_p.D2009G|NEB_ENST00000604864.1_Missense_Mutation_p.D2009G|NEB_ENST00000409198.1_Missense_Mutation_p.D2009G			P20929	NEBU_HUMAN	nebulin	2009					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGGGATATCAGGCATGAT	0.373																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6025-6027)gAt>gGt		nebulin							235.0	227.0	230.0					2																	152515628		1866	4114	5980	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152515628T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6026A>G	2.37:g.152515628T>C	ENSP00000172853:p.Asp2009Gly					NEB_ENST00000172853.10_Missense_Mutation_p.D2009G|NEB_ENST00000409198.1_Missense_Mutation_p.D2009G|NEB_ENST00000604864.1_Missense_Mutation_p.D2009G|NEB_ENST00000603639.1_Missense_Mutation_p.D2009G|NEB_ENST00000397345.3_Missense_Mutation_p.D2009G	p.D2009G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	47	6228	-			2009					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6026A>G		.	.	.	.	.	.	.	.	.	.	T	25.8	4.672691	0.88445	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80564	-0.1326	10	0.54805	T	0.06	.	15.6338	0.76933	0.0:0.0:0.0:1.0	.	2009	P20929	NEBU_HUMAN	G	2009	ENSP00000386259:D2009G;ENSP00000380505:D2009G;ENSP00000416578:D2009G;ENSP00000172853:D2009G	ENSP00000172853:D2009G	D	-	2	0	NEB	152223874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.937000	0.63513	2.333000	0.79357	0.482000	0.46254	GAT		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		65	97	0	0	0	1	0	65	97				
MAD1L1	8379	broad.mit.edu	37	7	1937867	1937867	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1937867G>A	ENST00000406869.1	-	18	2524	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V	MAD1L1_ENST00000265854.7_Missense_Mutation_p.A656V|MAD1L1_ENST00000402746.1_Missense_Mutation_p.A564V|MAD1L1_ENST00000399654.2_Missense_Mutation_p.A656V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	656					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGGTGCTCGGCGTACAGCGA	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1966-1968)gCc>gTc		MAD1 mitotic arrest deficient-like 1 (yeast)							104.0	125.0	118.0					7																	1937867		2173	4271	6444	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937867G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1967C>T	7.37:g.1937867G>A	ENSP00000385334:p.Ala656Val					MAD1L1_ENST00000265854.7_Missense_Mutation_p.A656V|MAD1L1_ENST00000402746.1_Missense_Mutation_p.A564V|MAD1L1_ENST00000399654.2_Missense_Mutation_p.A656V	p.A656V			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2524	-		Ovarian(82;0.0272)	656					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1967C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788129	0.70337	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.69296	-0.5182	10	0.72032	D	0.01	-23.7528	17.7612	0.88465	0.0:0.0:1.0:0.0	.	655;564;656	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	V	564;656;656;207;656;207;112	ENSP00000384155:A564V;ENSP00000382562:A656V;ENSP00000385334:A656V;ENSP00000265854:A656V;ENSP00000394886:A207V;ENSP00000394069:A112V	ENSP00000265854:A656V	A	-	2	0	MAD1L1	1904393	1.000000	0.71417	0.658000	0.29665	0.031000	0.12232	9.282000	0.95840	2.623000	0.88846	0.655000	0.94253	GCC		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	12	0	0	0	1	0	8	12				
RSPO2	340419	broad.mit.edu	37	8	108970442	108970442	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:108970442C>T	ENST00000276659.5	-	5	1102	c.482G>A	c.(481-483)cGc>cAc	p.R161H	RSPO2_ENST00000378439.2_Missense_Mutation_p.R97H|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97H|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	161	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCCACATGTGCGATTATTTCT	0.388																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(481-483)cGc>cAc		R-spondin 2							174.0	164.0	168.0					8																	108970442		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970442C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.482G>A	8.37:g.108970442C>T	ENSP00000276659:p.Arg161His					RSPO2_ENST00000378439.2_Missense_Mutation_p.R97H|RSPO2_ENST00000517781.1_Missense_Mutation_p.R97H|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94H	p.R161H	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1102	-			161			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.482G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494208	0.85069	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.74	5.74	0.90152	.	0.094859	0.64402	D	0.000001	T	0.75376	0.3841	L	0.31752	0.955	0.46011	D	0.99881	P;D	0.59767	0.938;0.986	B;P	0.48454	0.365;0.578	T	0.76995	-0.2752	10	0.59425	D	0.04	-5.4334	11.3178	0.49403	0.0:0.8904:0.0:0.1096	.	161;97	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	H	94;97;97;161;94	ENSP00000428940:R94H;ENSP00000427937:R97H;ENSP00000367698:R97H;ENSP00000276659:R161H;ENSP00000428614:R94H	ENSP00000276659:R161H	R	-	2	0	RSPO2	109039618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.038000	0.49783	2.873000	0.98535	0.563000	0.77884	CGC		0.388	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		25	50	0	0	0	1	0	25	50				
WDR36	134430	broad.mit.edu	37	5	110439987	110439987	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110439987C>T	ENST00000513710.2	+	8	1014	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	WDR36_ENST00000506538.2_Missense_Mutation_p.A337V|WDR36_ENST00000505303.1_Missense_Mutation_p.A281V			Q8NI36	WDR36_HUMAN	WD repeat domain 36	337					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACAGCAATTGCCGGACTGACA	0.428																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1009-1011)gCc>gTc		WD repeat domain 36							144.0	143.0	143.0					5																	110439987		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110439987C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1010C>T	5.37:g.110439987C>T	ENSP00000424628:p.Ala337Val					WDR36_ENST00000505303.1_Missense_Mutation_p.A281V|WDR36_ENST00000513710.2_Missense_Mutation_p.A337V	p.A337V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	8	1583	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	337					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1010C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487038	0.96323	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.27890	1.64;1.64;3.35	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.141103	0.64402	D	0.000005	T	0.41073	0.1143	L	0.38175	1.15	0.80722	D	1	D	0.54047	0.964	P	0.52823	0.71	T	0.16748	-1.0392	10	0.87932	D	0	-9.2604	19.7349	0.96200	0.0:1.0:0.0:0.0	.	337	Q8NI36	WDR36_HUMAN	V	337;337;281	ENSP00000423067:A337V;ENSP00000424628:A337V;ENSP00000422158:A281V	ENSP00000422158:A281V	A	+	2	0	WDR36	110467886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.714000	0.84703	2.843000	0.97960	0.585000	0.79938	GCC		0.428	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		26	115	0	0	0	1	0	26	115				
UNK	85451	broad.mit.edu	37	17	73815809	73815809	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73815809G>A	ENST00000589666.1	+	12	1701	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	UNK_ENST00000293218.3_Missense_Mutation_p.A607T|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	531							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCGTGGCCGCCCTGGAGAA	0.592																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1819-1821)Gcc>Acc		unkempt family zinc finger							108.0	114.0	112.0					17																	73815809		2104	4207	6311	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73815809G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1591G>A	17.37:g.73815809G>A	ENSP00000464893:p.Ala531Thr					UNK_ENST00000589666.1_Missense_Mutation_p.A531T|RP11-552F3.4_ENST00000586808.1_RNA	p.A607T			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1819	+			531						Missense_Mutation	SNP	ENST00000589666.1	37	c.1819G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131115	0.77549	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.66	4.66	0.58398	.	0.055256	0.64402	D	0.000001	T	0.57344	0.2047	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	P	0.46629	0.522	T	0.54443	-0.8293	9	0.16420	T	0.52	-9.1169	18.1115	0.89537	0.0:0.0:1.0:0.0	.	531	Q9C0B0	UNK_HUMAN	T	607	.	ENSP00000293218:A607T	A	+	1	0	UNK	71327404	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.730000	0.91510	2.587000	0.87381	0.655000	0.94253	GCC		0.592	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		22	23	0	0	0	1	0	22	23				
SLC35E1	79939	broad.mit.edu	37	19	16677423	16677423	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16677423G>A	ENST00000595753.1	-	4	693	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_Silent_p.S419S|SLC35E1_ENST00000431408.1_Silent_p.L70L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	226					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGCAGCCCAGGATGTTGAGC	0.532																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(676-678)Ctg>Ttg		solute carrier family 35, member E1							91.0	90.0	90.0					19																	16677423		2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16677423G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.676C>T	19.37:g.16677423G>A						CTD-3222D19.2_ENST00000409035.1_Silent_p.S419S|SLC35E1_ENST00000431408.1_Silent_p.L70L	p.L226L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			4	693	-			226					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.676C>T	CCDS12346.2																																																																																				0.532	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		17	34	0	0	0	1	0	17	34				
ACAP2	23527	broad.mit.edu	37	3	195016454	195016454	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195016454G>A	ENST00000326793.6	-	17	1885	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	552					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTGGGCAGATGCTCTGACTTG	0.388																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1654-1656)gCa>gTa		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							94.0	96.0	95.0					3																	195016454		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195016454G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1655C>T	3.37:g.195016454G>A	ENSP00000324287:p.Ala552Val						p.A552V	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			17	1885	-			552					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1655C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161258	0.09287	.	.	ENSG00000114331	ENST00000326793	T	0.47528	0.84	5.79	1.9	0.25705	.	1.747080	0.02896	N	0.134705	T	0.30854	0.0778	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	10	0.25106	T	0.35	.	9.857	0.41092	0.2883:0.0:0.7117:0.0	.	552	Q15057	ACAP2_HUMAN	V	552	ENSP00000324287:A552V	ENSP00000324287:A552V	A	-	2	0	ACAP2	196497743	0.092000	0.21681	0.070000	0.20053	0.999000	0.98932	1.038000	0.30254	0.063000	0.16370	0.655000	0.94253	GCA		0.388	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		26	34	0	0	0	1	0	26	34				
SCGN	10590	broad.mit.edu	37	6	25661856	25661856	+	Missense_Mutation	SNP	G	G	A	rs376721140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25661856G>A	ENST00000377961.2	+	3	398	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AAAGATGGTCGCATTCGGATG	0.403																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(229-231)cGc>cAc		secretagogin, EF-hand calcium binding protein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	133.0	138.0		230	-2.1	0.0	6		138	2,8598	2.2+/-6.3	0,2,4298	no	missense	SCGN	NM_006998.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	77/277	25661856	3,13003	2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25661856G>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.230G>A	6.37:g.25661856G>A	ENSP00000367197:p.Arg77His					SCGN_ENST00000334979.6_3'UTR	p.R77H	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			3	398	+			77			EF-hand 2.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.230G>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711245	0.15239	2.27E-4	2.33E-4	ENSG00000079689	ENST00000377961	T	0.09817	2.94	3.24	-2.06	0.07298	EF-hand-like domain (1);	0.600109	0.18023	N	0.154165	T	0.03477	0.0100	L	0.55213	1.73	0.09310	N	0.999999	B	0.18310	0.027	B	0.08055	0.003	T	0.36432	-0.9748	10	0.54805	T	0.06	.	10.386	0.44140	0.3719:0.0:0.6281:0.0	.	77	O76038	SEGN_HUMAN	H	77	ENSP00000367197:R77H	ENSP00000367197:R77H	R	+	2	0	SCGN	25769835	0.001000	0.12720	0.000000	0.03702	0.140000	0.21249	0.078000	0.14761	-0.554000	0.06150	-1.316000	0.01300	CGC		0.403	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			14	39	0	0	0	1	0	14	39				
EPHB6	2051	broad.mit.edu	37	7	142564789	142564789	+	Silent	SNP	C	C	T	rs374579925		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142564789C>T	ENST00000392957.2	+	11	2500	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y	EPHB6_ENST00000411471.2_Silent_p.Y294Y|EPHB6_ENST00000442129.1_Silent_p.Y571Y	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	571	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGGCCCCTACGGGGGCAAAG	0.637																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1711-1713)taC>taT		EPH receptor B6		C		1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	42.0		1713	-9.5	0.6	7		42	0,8600		0,0,4300	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		571/1022	142564789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564789C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1713C>T	7.37:g.142564789C>T						EPHB6_ENST00000442129.1_Silent_p.Y571Y|EPHB6_ENST00000411471.2_Silent_p.Y294Y	p.Y571Y	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			11	2500	+	Melanoma(164;0.059)		571			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1713C>T	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			17	24	0	0	0	1	0	17	24				
NONO	4841	broad.mit.edu	37	X	70519912	70519912	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70519912C>T	ENST00000276079.8	+	12	1607	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	NONO_ENST00000535149.1_Missense_Mutation_p.R379C|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000538820.1_5'Flank|ITGB1BP2_ENST00000373829.3_5'Flank|NONO_ENST00000373841.1_Missense_Mutation_p.R468C	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1135-1137)Cgt>Tgt		non-POU domain containing, octamer-binding							92.0	80.0	84.0					X																	70519912		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70519912C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1402C>T	X.37:g.70519912C>T	ENSP00000276079:p.Arg468Cys					NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R468C|NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C	p.R379C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			10	1778	+	Renal(35;0.156)		468					B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1135C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	-	18.97	3.735989	0.69189	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.21932	2.02;1.98;1.98;1.98	4.87	4.87	0.63330	.	0.114545	0.64402	D	0.000010	T	0.38480	0.1042	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.22871	-1.0204	10	0.87932	D	0	-5.6105	17.2567	0.87059	0.0:1.0:0.0:0.0	.	468	Q15233	NONO_HUMAN	C	379;468;468;468	ENSP00000441364:R379C;ENSP00000276079:R468C;ENSP00000362963:R468C;ENSP00000362947:R468C	ENSP00000276079:R468C	R	+	1	0	NONO	70436637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.161000	0.64935	2.256000	0.74724	0.529000	0.55759	CGT		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		8	26	0	0	0	1	0	8	26				
SEPT14	346288	broad.mit.edu	37	7	55929685	55929685	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:55929685G>A	ENST00000388975.3	-	2	121	c.5C>T	c.(4-6)gCa>gTa	p.A2V	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	2					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTCTTTCTGCCATGCTACA	0.289																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(4-6)gCa>gTa		septin 14							56.0	48.0	50.0					7																	55929685		1806	4063	5869	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55929685G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.5C>T	7.37:g.55929685G>A	ENSP00000373627:p.Ala2Val					SEPT14_ENST00000477628.1_5'UTR	p.A2V	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	121	-	Breast(14;0.214)		2					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.5C>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	g	14.23	2.471928	0.43942	.	.	ENSG00000154997	ENST00000388975	T	0.52057	0.68	2.3	1.37	0.22104	.	.	.	.	.	T	0.36663	0.0975	L	0.29908	0.895	0.23533	N	0.997473	P	0.50443	0.935	P	0.45753	0.492	T	0.18461	-1.0336	9	0.72032	D	0.01	.	6.0519	0.19790	0.0:0.0:0.6947:0.3053	.	2	Q6ZU15	SEP14_HUMAN	V	2	ENSP00000373627:A2V	ENSP00000373627:A2V	A	-	2	0	SEPT14	55897179	1.000000	0.71417	0.983000	0.44433	0.159000	0.22180	0.633000	0.24598	0.481000	0.27557	0.467000	0.42956	GCA		0.289	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		3	11	0	0	0	1	0	3	11				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	36	0	0	0	1	0	18	36				
FLNC	2318	broad.mit.edu	37	7	128495288	128495288	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128495288C>T	ENST00000325888.8	+	43	7432	c.7171C>T	c.(7171-7173)Cac>Tac	p.H2391Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H2358Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2391					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAATGATGAGCACATCCCAGA	0.622																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7171-7173)Cac>Tac		filamin C, gamma							88.0	98.0	95.0					7																	128495288		2192	4299	6491	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128495288C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7171C>T	7.37:g.128495288C>T	ENSP00000327145:p.His2391Tyr					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H2358Y	p.H2391Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			43	7432	+			2391					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7171C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556873	0.86231	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86297	-2.1;-2.1	5.29	5.29	0.74685	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	H	0.95950	3.745	0.54753	D	0.999981	D;D	0.89917	0.998;1.0	D;D	0.75020	0.948;0.985	D	0.96590	0.9437	10	0.87932	D	0	.	14.6438	0.68745	0.1461:0.8539:0.0:0.0	.	2358;2391	Q14315-2;Q14315	.;FLNC_HUMAN	Y	2391;2358	ENSP00000327145:H2391Y;ENSP00000344002:H2358Y	ENSP00000327145:H2391Y	H	+	1	0	FLNC	128282524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.747000	0.85070	2.470000	0.83445	0.462000	0.41574	CAC		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			38	53	0	0	0	1	0	38	53				
SLC3A1	6519	broad.mit.edu	37	2	44502871	44502871	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44502871C>T	ENST00000260649.6	+	1	273	c.197C>T	c.(196-198)gCg>gTg	p.A66V	SLC3A1_ENST00000409387.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.A66V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	66					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAGCCCTATGCGGGGATGCCC	0.622																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(196-198)gCg>gTg		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						46.0	43.0	44.0					2																	44502871		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44502871C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.197C>T	2.37:g.44502871C>T	ENSP00000260649:p.Ala66Val					SLC3A1_ENST00000410056.3_Missense_Mutation_p.A66V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.A66V|SLC3A1_ENST00000409229.3_Missense_Mutation_p.A66V	p.A66V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	273	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	66					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.197C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404032	0.96051	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99552	-5.55;-6.15;-5.53;-6.0;-6.15	5.66	5.66	0.87406	.	0.151903	0.64402	D	0.000017	D	0.99477	0.9814	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0	P;P;D;D;D	0.75020	0.799;0.699;0.985;0.978;0.978	D	0.99364	1.0918	10	0.48119	T	0.1	-19.808	19.76	0.96311	0.0:1.0:0.0:0.0	.	66;66;66;66;66	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	V	66	ENSP00000260649:A66V;ENSP00000387308:A66V;ENSP00000387337:A66V;ENSP00000386954:A66V;ENSP00000386620:A66V	ENSP00000260649:A66V	A	+	2	0	SLC3A1	44356375	1.000000	0.71417	0.686000	0.30086	0.768000	0.43524	7.683000	0.84093	2.666000	0.90696	0.655000	0.94253	GCG		0.622	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		12	10	0	0	0	1	0	12	10				
OXCT1	5019	broad.mit.edu	37	5	41794151	41794151	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41794151G>A	ENST00000196371.5	-	13	1362	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A215V|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.A4V|OXCT1_ENST00000512084.1_Missense_Mutation_p.A4V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	401					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AACCTGCATCGCTCCTAGCAT	0.383																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1201-1203)gCg>gTg		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						122.0	119.0	120.0					5																	41794151		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41794151G>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1202C>T	5.37:g.41794151G>A	ENSP00000196371:p.Ala401Val					OXCT1_ENST00000510634.1_Missense_Mutation_p.A4V|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.A215V|OXCT1_ENST00000512084.1_Missense_Mutation_p.A4V	p.A401V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			13	1362	-			401					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1202C>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470145	0.96274	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.87	5.87	0.94306	3-oxoacid CoA-transferase, subunit B (1);	0.103899	0.64402	D	0.000004	D	0.97470	0.9172	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98141	1.0436	10	0.87932	D	0	-17.8192	18.9706	0.92713	0.0:0.0:1.0:0.0	.	401	P55809	SCOT1_HUMAN	V	401;4;4;215	ENSP00000196371:A401V;ENSP00000421143:A4V;ENSP00000423144:A4V;ENSP00000425348:A215V	ENSP00000196371:A401V	A	-	2	0	OXCT1	41829908	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.408000	0.80041	2.775000	0.95449	0.650000	0.86243	GCG		0.383	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		49	98	0	0	0	1	0	49	98				
PVRL3	25945	broad.mit.edu	37	3	110852711	110852711	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:110852711G>A	ENST00000485303.1	+	6	1574	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	433					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GAAGACGGACGTTTCGTGGAG	0.413																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1297-1299)acG>acA		poliovirus receptor-related 3							136.0	135.0	135.0					3																	110852711		2203	4300	6503	SO:0001819	synonymous_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852711G>A	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1299G>A	3.37:g.110852711G>A						PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	p.T433T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			6	1574	+			433					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	c.1299G>A	CCDS2957.1																																																																																				0.413	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		7	70	0	0	0	1	0	7	70				
DDX41	51428	broad.mit.edu	37	5	176943194	176943194	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176943194G>A	ENST00000507955.1	-	4	822	c.299C>T	c.(298-300)gCg>gTg	p.A100V	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	100					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCTTTGCGCGCTGAGAAAAG	0.537																																						ENST00000507955.1																			0											c.e4-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							174.0	177.0	176.0					5																	176943194		2203	4300	6503	SO:0001630	splice_region_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943194G>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.299-1C>T	5.37:g.176943194G>A						DDX41_ENST00000506965.1_5'UTR	p.A100_splice	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		4	822	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	100					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	ENST00000507955.1	37	c.298_splice	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499275	0.64298	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.28069	1.63;1.63	5.47	4.6	0.57074	.	0.189153	0.45606	D	0.000344	T	0.25717	0.0626	L	0.41573	1.285	0.80722	D	1	B	0.22746	0.074	B	0.12837	0.008	T	0.03139	-1.1068	10	0.28530	T	0.3	.	13.9701	0.64235	0.0726:0.0:0.9274:0.0	.	100	Q9UJV9	DDX41_HUMAN	V	118;100	ENSP00000330349:A118V;ENSP00000422753:A100V	ENSP00000330349:A118V	A	-	2	0	DDX41	176875800	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	7.434000	0.80377	1.306000	0.44926	0.561000	0.74099	GCG		0.537	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	Missense_Mutation	65	88	0	0	0	1	0	65	88				
MAP1S	55201	broad.mit.edu	37	19	17838376	17838376	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17838376G>A	ENST00000324096.4	+	5	2334	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R702H|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	728	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGGGCGCGGCGCTCGGCTTCC	0.697																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2182-2184)cGc>cAc		microtubule-associated protein 1S							19.0	17.0	18.0					19																	17838376		2198	4298	6496	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838376G>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2183G>A	19.37:g.17838376G>A	ENSP00000325313:p.Arg728His					MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R702H	p.R728H	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	2334	+			728			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2183G>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861009	0.32884	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18960	2.18;2.19	4.32	4.32	0.51571	.	0.000000	0.50627	D	0.000107	T	0.34600	0.0903	L	0.39020	1.185	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.69824	0.966;0.736	T	0.08391	-1.0724	10	0.49607	T	0.09	-26.4844	14.286	0.66247	0.0:0.0:1.0:0.0	.	702;728	B4DH53;Q66K74	.;MAP1S_HUMAN	H	728;702	ENSP00000325313:R728H;ENSP00000439243:R702H	ENSP00000325313:R728H	R	+	2	0	MAP1S	17699376	1.000000	0.71417	0.255000	0.24374	0.159000	0.22180	5.223000	0.65283	1.934000	0.56057	0.484000	0.47621	CGC		0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		3	8	0	0	0	1	0	3	8				
INPP4A	3631	broad.mit.edu	37	2	99155420	99155420	+	Nonsense_Mutation	SNP	C	C	T	rs367863127		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99155420C>T	ENST00000523221.1	+	7	646	c.646C>T	c.(646-648)Cga>Tga	p.R216*	INPP4A_ENST00000545415.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000074304.5_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409540.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409016.4_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	216					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGCTTCATTGCGAAAGGACAC	0.478																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(646-648)Cga>Tga		inositol polyphosphate-4-phosphatase, type I, 107kDa							94.0	93.0	93.0					2																	99155420		2022	4182	6204	SO:0001587	stop_gained	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155420C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.646C>T	2.37:g.99155420C>T	ENSP00000427722:p.Arg216*					INPP4A_ENST00000409540.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000523221.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000545415.1_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409016.3_Nonsense_Mutation_p.R216*|INPP4A_ENST00000409463.1_Intron	p.R216*	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			9	1039	+			216					O15326|Q13187|Q53TD8|Q8TC02	Nonsense_Mutation	SNP	ENST00000523221.1	37	c.646C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	38	7.205138	0.98132	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	5.11	2.22	0.28083	.	0.119694	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-5.7381	14.4005	0.67041	0.6196:0.3804:0.0:0.0	.	.	.	.	X	216	.	ENSP00000074304:R216X	R	+	1	2	INPP4A	98521852	0.946000	0.32159	0.954000	0.39281	0.726000	0.41606	0.053000	0.14184	0.278000	0.22164	-0.302000	0.09304	CGA		0.478	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	19	0	0	0	1	0	4	19				
NBPF1	55672	broad.mit.edu	37	1	16895569	16895569	+	Splice_Site	SNP	G	G	A	rs374641830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16895569G>A	ENST00000430580.2	-	23	3500	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	871	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTCACCGCCTATGTCAA	0.498																																						ENST00000430580.2																			0											c.e23+1		neuroblastoma breakpoint family, member 1		G		1,4405		0,1,2202	435.0	401.0	413.0		2613	-1.1	0.0	1		413	0,8594		0,0,4297	no	coding-synonymous-near-splice	NBPF1	NM_017940.3		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		871/1123	16895569	1,12999	2203	4297	6500	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16895569G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2614+1C>T	1.37:g.16895569G>A						NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron	p.G871_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3500	-			871			NBPF 4.		Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.2614_splice																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Silent	137	1186	0	0	0	1	0	137	1186				
FGD5	152273	broad.mit.edu	37	3	14942551	14942551	+	Missense_Mutation	SNP	G	G	A	rs183782487	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14942551G>A	ENST00000285046.5	+	9	3357	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	FGD5_ENST00000543601.1_Missense_Mutation_p.D842N|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1083	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCGTGCCAACGACAGCATGGA	0.622													G|||	7	0.00139776	0.0053	0.0	5008	,	,		21170	0.0		0.0	False		,,,				2504	0.0					ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3247-3249)Gac>Aac		FYVE, RhoGEF and PH domain containing 5		G	ASN/ASP	16,4196		0,16,2090	111.0	113.0	113.0		3247	5.2	1.0	3		113	0,8482		0,0,4241	yes	missense	FGD5	NM_152536.3	23	0,16,6331	AA,AG,GG		0.0,0.3799,0.126	benign	1083/1463	14942551	16,12678	2106	4241	6347	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14942551G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3247G>A	3.37:g.14942551G>A	ENSP00000285046:p.Asp1083Asn					FGD5_ENST00000543601.1_Missense_Mutation_p.D842N|FGD5_ENST00000476851.1_3'UTR	p.D1083N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			9	3357	+			1083			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3247G>A	CCDS46767.1	4	0.0018315018315018315	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	21.7	4.185448	0.78677	0.003799	0.0	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.32515	1.45;1.45	5.15	5.15	0.70609	Dbl homology (DH) domain (5);	0.308876	0.27631	N	0.018515	T	0.31702	0.0805	L	0.46614	1.455	0.44345	D	0.997234	P;P	0.49961	0.93;0.84	B;B	0.43754	0.43;0.43	T	0.07404	-1.0774	10	0.52906	T	0.07	-29.1155	14.1493	0.65373	0.0:0.0:1.0:0.0	.	842;1083	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	N	1083;842	ENSP00000285046:D1083N;ENSP00000445949:D842N	ENSP00000285046:D1083N	D	+	1	0	FGD5	14917555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	2.397000	0.81536	0.591000	0.81541	GAC		0.622	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	37	0	0	0	1	0	15	37				
ADAM20	8748	broad.mit.edu	37	14	70991496	70991496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70991496C>T	ENST00000256389.3	-	2	373	c.129G>A	c.(127-129)tgG>tgA	p.W43*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CATTATGGAGCCATCTGTCTA	0.527																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(127-129)tgG>tgA		ADAM metallopeptidase domain 20							166.0	123.0	138.0					14																	70991496		2203	4300	6503	SO:0001587	stop_gained	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991496C>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.129G>A	14.37:g.70991496C>T	ENSP00000256389:p.Trp43*					RP11-486O13.4_ENST00000556646.1_lincRNA	p.W43*	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	373	-			0					Q6GTZ1|Q9UKJ9	Nonsense_Mutation	SNP	ENST00000256389.3	37	c.129G>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747066	0.69418	.	.	ENSG00000134007	ENST00000256389	.	.	.	4.04	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5696	0.04791	0.1503:0.534:0.146:0.1697	.	.	.	.	X	43	.	ENSP00000256389:W43X	W	-	3	0	ADAM20	70061249	0.005000	0.15991	0.007000	0.13788	0.069000	0.16628	0.488000	0.22371	0.097000	0.17492	0.650000	0.86243	TGG		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			4	74	0	0	0	1	0	4	74				
CLNS1A	1207	broad.mit.edu	37	11	77336825	77336825	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77336825C>T	ENST00000525428.1	-	3	391	c.301G>A	c.(301-303)Gac>Aac	p.D101N	CLNS1A_ENST00000528364.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000525064.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	101					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TCATCACTGTCTTCCTCTTCT	0.318																																						ENST00000525428.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(301-303)Gac>Aac		chloride channel, nucleotide-sensitive, 1A							139.0	114.0	123.0					11																	77336825		2200	4292	6492	SO:0001583	missense	1207				blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding	g.chr11:77336825C>T	U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.301G>A	11.37:g.77336825C>T	ENSP00000433919:p.Asp101Asn					CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000525064.1_Missense_Mutation_p.D101N|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000528364.1_Missense_Mutation_p.D101N	p.D101N	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		3	391	-	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		101					B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	c.301G>A	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286781	0.59867	.	.	ENSG00000074201	ENST00000525428;ENST00000525064;ENST00000528364	T;T;T	0.36340	1.26;1.27;1.26	4.99	4.07	0.47477	.	0.690463	0.15250	N	0.272389	T	0.40322	0.1112	L	0.41124	1.26	0.37644	D	0.92215	P	0.37781	0.608	P	0.49561	0.615	T	0.16630	-1.0396	10	0.12430	T	0.62	-7.429	13.4268	0.61030	0.0:0.9236:0.0:0.0764	.	101	P54105	ICLN_HUMAN	N	101	ENSP00000433919:D101N;ENSP00000433741:D101N;ENSP00000434311:D101N	ENSP00000433741:D101N	D	-	1	0	CLNS1A	77014473	1.000000	0.71417	0.613000	0.29037	0.906000	0.53458	3.945000	0.56637	1.238000	0.43771	0.460000	0.39030	GAC		0.318	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293		9	17	0	0	0	1	0	9	17				
ASTN2	23245	broad.mit.edu	37	9	119203009	119203009	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:119203009C>T	ENST00000313400.4	-	22	3761	c.3661G>A	c.(3661-3663)Gcc>Acc	p.A1221T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A1170T|ASTN2_ENST00000361477.3_Missense_Mutation_p.A273T|ASTN2_ENST00000373996.3_Missense_Mutation_p.A1217T|ASTN2_ENST00000288520.5_Missense_Mutation_p.A322T|ASTN2_ENST00000341734.4_Missense_Mutation_p.A273T			O75129	ASTN2_HUMAN	astrotactin 2	1221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGTTGTAGGCCATCTGCTGC	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3661-3663)Gcc>Acc		astrotactin 2							204.0	159.0	174.0					9																	119203009		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119203009C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3661G>A	9.37:g.119203009C>T	ENSP00000314038:p.Ala1221Thr					ASTN2_ENST00000373996.3_Missense_Mutation_p.A1217T|ASTN2_ENST00000341734.4_Missense_Mutation_p.A273T|ASTN2_ENST00000361477.3_Missense_Mutation_p.A273T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A1170T|ASTN2_ENST00000288520.5_Missense_Mutation_p.A322T	p.A1221T			O75129	ASTN2_HUMAN			22	3761	-			1221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3661G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.727211|4.727211	0.89390|0.89390	.|.	.|.	ENSG00000148219|ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477|ENST00000417725	T;T;T;T;T;T;T|.	0.26957|.	2.12;2.11;1.7;1.75;1.98;2.18;1.75|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66616|.	0.2807|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.996;0.996;0.998;0.997;1.0;0.996;0.996|.	D;D;D;D;D;D;D|.	0.91635|.	0.99;0.993;0.995;0.989;0.999;0.993;0.993|.	T|.	0.59637|.	-0.7417|.	10|.	0.87932|.	D|.	0|.	-24.0379|-24.0379	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;273;1170;1221;1217;273;322|.	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4|.	.;.;.;ASTN2_HUMAN;.;.;.|.	T|X	1221;1217;322;273;944;1170;273|2	ENSP00000314038:A1221T;ENSP00000363108:A1217T;ENSP00000288520:A322T;ENSP00000339925:A273T;ENSP00000363098:A944T;ENSP00000354504:A1170T;ENSP00000355116:A273T|.	ENSP00000288520:A322T|.	A|W	-|-	1|3	0|0	ASTN2|ASTN2	118242830|118242830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.012000|6.012000	0.70767|0.70767	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		28	53	0	0	0	1	0	28	53				
ZWINT	11130	broad.mit.edu	37	10	58119813	58119813	+	Missense_Mutation	SNP	C	C	A	rs372154961		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:58119813C>A	ENST00000373944.3	-	3	260	c.222G>T	c.(220-222)aaG>aaT	p.K74N	ZWINT_ENST00000395405.1_Missense_Mutation_p.K74N|ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Missense_Mutation_p.K74N			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	74					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGTCGAGACCCTTAGCAGTGT	0.552																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(220-222)aaG>aaT		ZW10 interacting kinetochore protein							62.0	61.0	62.0					10																	58119813		2203	4300	6503	SO:0001583	missense	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119813C>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.222G>T	10.37:g.58119813C>A	ENSP00000363055:p.Lys74Asn					ZWINT_ENST00000395405.1_Missense_Mutation_p.K74N|ZWINT_ENST00000361148.6_Missense_Mutation_p.K74N	p.K74N			O95229	ZWINT_HUMAN			3	260	-			74					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.222G>T	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436812	0.12104	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000361148	T;T;T	0.46819	0.86;0.86;0.86	3.58	2.68	0.31781	.	0.163302	0.29314	N	0.012502	T	0.24624	0.0597	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.19946	0.027;0.027	T	0.17379	-1.0371	10	0.62326	D	0.03	-6.0786	6.8929	0.24241	0.0:0.8733:0.0:0.1267	.	74;74	A6NNV6;O95229	.;ZWINT_HUMAN	N	74	ENSP00000363055:K74N;ENSP00000378801:K74N;ENSP00000354921:K74N	ENSP00000354921:K74N	K	-	3	2	ZWINT	57789819	0.096000	0.21769	0.113000	0.21522	0.099000	0.18886	0.278000	0.18753	1.094000	0.41399	0.644000	0.83932	AAG		0.552	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			19	39	1	0	2.89027e-11	1	3.10618e-11	19	39				
USP28	57646	broad.mit.edu	37	11	113675698	113675698	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113675698C>T	ENST00000003302.4	-	20	2539	c.2471G>A	c.(2470-2472)cGa>cAa	p.R824Q	USP28_ENST00000260188.5_Missense_Mutation_p.R792Q|USP28_ENST00000544967.1_Missense_Mutation_p.R500Q|USP28_ENST00000545540.1_Missense_Mutation_p.R667Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	824					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATGCTGAAGTCGAGGATCACT	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2470-2472)cGa>cAa		ubiquitin specific peptidase 28							94.0	88.0	90.0					11																	113675698		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675698C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2471G>A	11.37:g.113675698C>T	ENSP00000003302:p.Arg824Gln					USP28_ENST00000260188.5_Missense_Mutation_p.R792Q|USP28_ENST00000545540.1_Missense_Mutation_p.R667Q|USP28_ENST00000544967.1_Missense_Mutation_p.R500Q	p.R824Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	20	2539	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	824					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2471G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.866725	0.97043	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.75367	-0.29;-0.4;-0.93;-0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.86268	0.1659	10	0.87932	D	0	-11.1278	20.3748	0.98911	0.0:1.0:0.0:0.0	.	667;824;500	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	Q	824;792;500;667	ENSP00000003302:R824Q;ENSP00000260188:R792Q;ENSP00000442431:R500Q;ENSP00000444991:R667Q	ENSP00000003302:R824Q	R	-	2	0	USP28	113180908	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.461000	0.80834	2.817000	0.96982	0.563000	0.77884	CGA		0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			15	25	0	0	0	1	0	15	25				
FZD1	8321	broad.mit.edu	37	7	90895851	90895851	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90895851C>T	ENST00000287934.2	+	1	2069	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	552					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCGTCATCGCCTGCTACT	0.607																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1654-1656)atC>atT		frizzled family receptor 1							87.0	67.0	74.0					7																	90895851		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895851C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1656C>T	7.37:g.90895851C>T							p.I552I	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2069	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		552					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1656C>T	CCDS5620.1																																																																																				0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		19	25	0	0	0	1	0	19	25				
AXIN2	8313	broad.mit.edu	37	17	63554635	63554635	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63554635G>A	ENST00000375702.5	-	1	212	c.104C>T	c.(103-105)cCg>cTg	p.P35L	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.P35L			Q9Y2T1	AXIN2_HUMAN	axin 2	35					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGGCTGACACGGTGGGGTCTC	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(103-105)cCg>cTg		axin 2							41.0	45.0	43.0					17																	63554635		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554635G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.104C>T	17.37:g.63554635G>A	ENSP00000364854:p.Pro35Leu					AXIN2_ENST00000375702.5_Missense_Mutation_p.P35L|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.P35L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	417	-			35					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.104C>T		.	.	.	.	.	.	.	.	.	.	G	9.145	1.014888	0.19355	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.77358	-0.12;-1.09;-0.11	4.74	4.74	0.60224	.	0.305992	0.21550	U	0.072742	T	0.71178	0.3309	L	0.52573	1.65	0.49130	D	0.999752	P;P;P	0.50819	0.716;0.762;0.939	B;B;B	0.38616	0.058;0.079;0.277	T	0.72074	-0.4400	10	0.28530	T	0.3	-20.457	16.5149	0.84297	0.0:0.0:1.0:0.0	.	35;35;35	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	L	35	ENSP00000302625:P35L;ENSP00000441151:P35L;ENSP00000364854:P35L	ENSP00000302625:P35L	P	-	2	0	AXIN2	60985097	1.000000	0.71417	0.988000	0.46212	0.455000	0.32408	7.698000	0.84413	2.163000	0.67991	0.561000	0.74099	CCG		0.667	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		17	24	0	0	0	1	0	17	24				
PRKAR1A	5573	broad.mit.edu	37	17	66524014	66524014	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66524014G>A	ENST00000589228.1	+	8	870	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E248K|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E248K	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	248					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GATGTATGAGGAATTCCTTAG	0.358			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(742-744)Gaa>Aaa		protein kinase, cAMP-dependent, regulatory, type I, alpha							171.0	175.0	173.0					17																	66524014		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66524014G>A		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.742G>A	17.37:g.66524014G>A	ENSP00000464977:p.Glu248Lys					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E248K|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E248K|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E248K	p.E248K	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			8	870	+	Breast(10;1.64e-13)		248					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.742G>A	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948887	0.73787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.88354	-2.37;-2.37;-2.37	5.74	5.74	0.90152	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	M	0.66939	2.045	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	D	0.83373	0.0008	10	0.40728	T	0.16	-34.6888	15.0564	0.71917	0.0698:0.0:0.9302:0.0	.	248;248	B2R5T5;P10644	.;KAP0_HUMAN	K	248	ENSP00000351410:E248K;ENSP00000376475:E248K;ENSP00000445625:E248K	ENSP00000351410:E248K	E	+	1	0	PRKAR1A	64035609	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.017000	0.88712	2.704000	0.92352	0.650000	0.86243	GAA		0.358	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			19	29	0	0	0	1	0	19	29				
VAV2	7410	broad.mit.edu	37	9	136634554	136634554	+	Missense_Mutation	SNP	C	C	T	rs183141718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136634554C>T	ENST00000371850.3	-	28	2450	c.2419G>A	c.(2419-2421)Gct>Act	p.A807T	VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371851.1_Missense_Mutation_p.A797T	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	807					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGAAGGGAGCGGAGGGGCCC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15187	0.0		0.001	False		,,,				2504	0.0					ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2389-2391)Gct>Act		vav 2 guanine nucleotide exchange factor							47.0	47.0	47.0					9																	136634554		1563	3579	5142	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136634554C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2419G>A	9.37:g.136634554C>T	ENSP00000360916:p.Ala807Thr					VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371850.3_Missense_Mutation_p.A807T	p.A797T			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	26	2714	-			807					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.2389G>A	CCDS48053.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.92	1.783738	0.31593	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.16897	2.31;2.31	4.29	-0.665	0.11403	Src homology-3 domain (1);	0.242264	0.33419	N	0.004935	T	0.08358	0.0208	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.28839	-1.0031	10	0.18276	T	0.48	.	3.2095	0.06677	0.2043:0.2438:0.0:0.5519	.	807	P52735	VAV2_HUMAN	T	807;797;797	ENSP00000360916:A807T;ENSP00000360917:A797T	ENSP00000317258:A797T	A	-	1	0	VAV2	135624375	1.000000	0.71417	0.848000	0.33437	0.972000	0.66771	2.783000	0.47766	-0.018000	0.14079	0.313000	0.20887	GCT		0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			3	7	0	0	0	1	0	3	7				
TFB1M	51106	broad.mit.edu	37	6	155581523	155581523	+	Silent	SNP	G	G	A	rs149796947	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155581523G>A	ENST00000367166.4	-	6	733	c.678C>T	c.(676-678)ggC>ggT	p.G226G		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTGCACCACGCCCACGTCCA	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21153	0.0		0.0	False		,,,				2504	0.0					ENST00000367166.4																			0				lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(676-678)ggC>ggT		transcription factor B1, mitochondrial		G		2,4404	4.2+/-10.8	0,2,2201	144.0	117.0	126.0		678	-11.1	0.3	6	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	TFB1M	NM_016020.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		226/347	155581523	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155581523G>A	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.678C>T	6.37:g.155581523G>A							p.G226G	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	6	733	-		Ovarian(120;0.196)	226					Q05DR0|Q9Y384	Silent	SNP	ENST00000367166.4	37	c.678C>T	CCDS5248.1																																																																																				0.438	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			11	16	0	0	0	1	0	11	16				
PLIN2	123	broad.mit.edu	37	9	19116297	19116297	+	Missense_Mutation	SNP	C	C	A	rs373558876		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19116297C>A	ENST00000276914.2	-	8	1442	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	PLIN2_ENST00000411567.1_Missense_Mutation_p.E340D	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	421					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCTTGTCCATCTCTGCACCTT	0.498																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(1261-1263)gaG>gaT		perilipin 2							90.0	84.0	86.0					9																	19116297		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19116297C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1263G>T	9.37:g.19116297C>A	ENSP00000276914:p.Glu421Asp					PLIN2_ENST00000411567.1_Missense_Mutation_p.E340D	p.E421D	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			8	1442	-			421					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.1263G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130237	0.37630	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.05786	3.39;3.85	4.82	3.38	0.38709	.	2.135900	0.01843	N	0.035453	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41431	-0.9509	10	0.31617	T	0.26	.	10.9256	0.47189	0.0:0.8698:0.0:0.1302	.	421	Q99541	PLIN2_HUMAN	D	340;421	ENSP00000415270:E340D;ENSP00000276914:E421D	ENSP00000276914:E421D	E	-	3	2	PLIN2	19106297	0.000000	0.05858	0.006000	0.13384	0.150000	0.21749	0.561000	0.23515	0.586000	0.29626	0.650000	0.86243	GAG		0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		27	47	1	0	5.91797e-21	1	6.56533e-21	27	47				
KIF13B	23303	broad.mit.edu	37	8	28974382	28974382	+	Missense_Mutation	SNP	C	C	T	rs374014840		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28974382C>T	ENST00000524189.1	-	31	3841	c.3803G>A	c.(3802-3804)cGc>cAc	p.R1268H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1268					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTCTCTTGCGTAACACCAG	0.592																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3802-3804)cGc>cAc		kinesin family member 13B		C	HIS/ARG	0,4266		0,0,2133	74.0	79.0	77.0		3803	5.2	0.9	8		77	1,8483		0,1,4241	no	missense	KIF13B	NM_015254.3	29	0,1,6374	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1268/1827	28974382	1,12749	2133	4242	6375	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28974382C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3803G>A	8.37:g.28974382C>T	ENSP00000427900:p.Arg1268His					CTD-2647L4.1_ENST00000523661.1_RNA	p.R1268H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	31	3841	-		Ovarian(32;0.000536)	1268					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3803G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684940	0.88639	0.0	1.18E-4	ENSG00000197892	ENST00000524189	T	0.80480	-1.38	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92067	0.5661	10	0.87932	D	0	.	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1268	F8VPJ2	.	H	1268	ENSP00000427900:R1268H	ENSP00000427900:R1268H	R	-	2	0	KIF13B	29030301	1.000000	0.71417	0.948000	0.38648	0.436000	0.31835	7.257000	0.78362	2.691000	0.91804	0.655000	0.94253	CGC		0.592	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			22	26	0	0	0	1	0	22	26				
NKTR	4820	broad.mit.edu	37	3	42679568	42679568	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42679568G>T	ENST00000232978.8	+	13	2560	c.2372G>T	c.(2371-2373)aGg>aTg	p.R791M	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	791	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTAGAGACAGGTCTTCATGT	0.413																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2371-2373)aGg>aTg		natural killer-tumor recognition sequence							100.0	101.0	101.0					3																	42679568		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679568G>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2372G>T	3.37:g.42679568G>T	ENSP00000232978:p.Arg791Met					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R791M	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2560	+			791			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.2372G>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742166	0.03088	.	.	ENSG00000114857	ENST00000232978	T	0.12255	2.7	5.78	-0.898	0.10550	.	0.606254	0.16741	N	0.201436	T	0.12390	0.0301	L	0.29908	0.895	0.09310	N	1	P;P	0.42649	0.786;0.681	P;B	0.46339	0.513;0.315	T	0.19289	-1.0310	10	0.39692	T	0.17	-2.4244	10.8643	0.46844	0.5014:0.0:0.4986:0.0	.	491;791	Q6M1B8;P30414	.;NKTR_HUMAN	M	791	ENSP00000232978:R791M	ENSP00000232978:R791M	R	+	2	0	NKTR	42654572	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.615000	0.24329	-0.144000	0.11314	-0.218000	0.12543	AGG		0.413	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		21	35	1	0	2.21704e-12	1	2.3975e-12	21	35				
ERN1	2081	broad.mit.edu	37	17	62130708	62130708	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62130708C>T	ENST00000433197.3	-	16	2072	c.1977G>A	c.(1975-1977)gcG>gcA	p.A659A		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCCGAGATGCGCAAAGTCCT	0.582																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1975-1977)gcG>gcA		endoplasmic reticulum to nucleus signaling 1							64.0	68.0	67.0					17																	62130708		2090	4228	6318	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130708C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1977G>A	17.37:g.62130708C>T							p.A659A	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2072	-			659			Protein kinase.			Silent	SNP	ENST00000433197.3	37	c.1977G>A	CCDS45762.1																																																																																				0.582	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		10	26	0	0	0	1	0	10	26				
KIAA0355	9710	broad.mit.edu	37	19	34818459	34818459	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34818459C>T	ENST00000299505.6	+	4	1712	c.839C>T	c.(838-840)gCt>gTt	p.A280V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	280										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATCGACAGTGCTTTGCAAGTA	0.393																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(838-840)gCt>gTt		KIAA0355							103.0	114.0	110.0					19																	34818459		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818459C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.839C>T	19.37:g.34818459C>T	ENSP00000299505:p.Ala280Val						p.A280V	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			4	1712	+	Esophageal squamous(110;0.162)		280					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.839C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116262	0.94339	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.055502	0.64402	D	0.000001	T	0.50565	0.1623	L	0.29908	0.895	0.58432	D	0.999999	P	0.40180	0.705	B	0.38378	0.272	T	0.57306	-0.7834	9	0.87932	D	0	-1.8898	19.3067	0.94165	0.0:1.0:0.0:0.0	.	280	O15063	K0355_HUMAN	V	280	.	ENSP00000299505:A280V	A	+	2	0	KIAA0355	39510299	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.430000	0.80321	2.580000	0.87095	0.544000	0.68410	GCT		0.393	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		18	40	0	0	0	1	0	18	40				
ARFGEF1	10565	broad.mit.edu	37	8	68107673	68107673	+	IGR	SNP	G	G	A	rs200079718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:68107673G>A	ENST00000262215.3	-	0	7225				CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000262210.5_Missense_Mutation_p.G1171R|ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000412460.1_Missense_Mutation_p.G826R|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1171*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGGGATGACGGATCAAACTC	0.532																																						ENST00000262210.5																			1	Substitution - Nonsense(1)	p.G1171*(1)	lung(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3511-3513)Gga>Aga		centrosome and spindle pole associated protein 1							219.0	213.0	215.0					8																	68107673		2070	4211	6281	SO:0001628	intergenic_variant	79848					centrosome|microtubule|spindle		g.chr8:68107673G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107673G>A						CSPP1_ENST00000412460.1_Missense_Mutation_p.G826R|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	p.G1171R	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		29	3542	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1206					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3511G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	8.175	0.792538	0.16258	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.30981	1.51;1.53;1.53	5.27	0.885	0.19188	.	0.346678	0.27677	N	0.018311	T	0.14098	0.0341	N	0.10874	0.06	0.45295	D	0.998293	B;B;B	0.16802	0.019;0.011;0.011	B;B;B	0.15870	0.014;0.007;0.007	T	0.06058	-1.0848	10	0.46703	T	0.11	-7.9931	6.8778	0.24156	0.5645:0.0:0.4355:0.0	.	826;1171;1206	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	R	1171;1206;826;826	ENSP00000262210:G1171R;ENSP00000415782:G826R;ENSP00000430092:G826R	ENSP00000262210:G1171R	G	+	1	0	CSPP1	68270227	0.607000	0.26958	0.112000	0.21494	0.177000	0.22998	0.873000	0.28052	0.326000	0.23384	0.650000	0.86243	GGA		0.532	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		71	105	0	0	0	1	0	71	105				
ADTRP	84830	broad.mit.edu	37	6	11768593	11768593	+	Silent	SNP	C	C	T	rs531232448	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:11768593C>T	ENST00000414691.3	-	2	587	c.177G>A	c.(175-177)ggG>ggA	p.G59G	ADTRP_ENST00000229583.5_Silent_p.G77G|ADTRP_ENST00000379413.2_Silent_p.G59G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGCAGGTGACCCCGTAGAAAA	0.418																																						ENST00000414691.3																			0											c.(175-177)ggG>ggA		androgen-dependent TFPI-regulating protein							177.0	162.0	167.0					6																	11768593		2203	4300	6503	SO:0001819	synonymous_variant	84830					integral to membrane		g.chr6:11768593C>T	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.177G>A	6.37:g.11768593C>T						ADTRP_ENST00000379413.2_Silent_p.G59G|ADTRP_ENST00000229583.5_Silent_p.G77G	p.G59G	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			2	587	-			59					B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	37	c.177G>A	CCDS4521.1																																																																																				0.418	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		35	69	0	0	0	1	0	35	69				
B4GALNT3	283358	broad.mit.edu	37	12	662797	662797	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:662797G>A	ENST00000266383.5	+	14	1721	c.1708G>A	c.(1708-1710)Gca>Aca	p.A570T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	570					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTCGTACATCGCAGAGCAGAG	0.662																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1708-1710)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 3							40.0	41.0	41.0					12																	662797		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662797G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1708G>A	12.37:g.662797G>A	ENSP00000266383:p.Ala570Thr						p.A570T	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1721	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		570					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1708G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487960	0.44249	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.30981	3.54;1.51	5.63	5.63	0.86233	.	0.518196	0.22131	N	0.064191	T	0.34861	0.0912	L	0.56769	1.78	0.09310	N	1	D;P	0.56521	0.976;0.923	P;B	0.46275	0.51;0.122	T	0.31586	-0.9938	10	0.27785	T	0.31	-15.805	13.3305	0.60483	0.0:0.0:0.8424:0.1576	.	473;570	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	570;473	ENSP00000266383:A570T;ENSP00000322953:A473T	ENSP00000266383:A570T	A	+	1	0	B4GALNT3	533058	0.400000	0.25295	0.111000	0.21465	0.523000	0.34469	1.893000	0.39758	2.659000	0.90383	0.561000	0.74099	GCA		0.662	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		22	25	0	0	0	1	0	22	25				
KNTC1	9735	broad.mit.edu	37	12	123058925	123058925	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123058925G>A	ENST00000333479.7	+	27	2557	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D757N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	794					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)				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)		ATCTGACACGGACGTAAGTAA	0.368																																						ENST00000333479.7																			0				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						c.(2380-2382)Gac>Aac		kinetochore associated 1							80.0	72.0	75.0					12																	123058925		1887	4117	6004	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.chr12:123058925G>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.2380G>A	12.37:g.123058925G>A	ENSP00000328236:p.Asp794Asn					KNTC1_ENST00000450485.2_Missense_Mutation_p.D757N	p.D794N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	27	2557	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		794					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2380G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025294	0.35701	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.26373	1.74;2.44	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	L	0.50919	1.6	0.80722	D	1	B;D	0.63880	0.288;0.993	B;P	0.59487	0.103;0.858	T	0.13522	-1.0506	10	0.44086	T	0.13	-13.3235	19.1725	0.93585	0.0:0.0:1.0:0.0	.	757;794	E7ES84;P50748	.;KNTC1_HUMAN	N	757;794	ENSP00000397992:D757N;ENSP00000328236:D794N	ENSP00000328236:D794N	D	+	1	0	KNTC1	121624878	1.000000	0.71417	0.759000	0.31340	0.065000	0.16274	6.203000	0.72137	2.530000	0.85305	0.563000	0.77884	GAC		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	13	0	0	0	1	0	4	13				
AZIN2	113451	broad.mit.edu	37	1	33560279	33560279	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33560279C>T	ENST00000294517.6	+	8	1305	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ADC_ENST00000398167.1_Missense_Mutation_p.P240S|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.P240S|ADC_ENST00000358680.3_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.P240S	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		240					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGGTGGCTTCCCTGGCACAGA	0.577											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(718-720)Cct>Tct		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						78.0	80.0	80.0					1																	33560279		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33560279C>T																												ENST00000294517.6:c.718C>T	1.37:g.33560279C>T	ENSP00000294517:p.Pro240Ser		OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	ADC_ENST00000373443.3_Missense_Mutation_p.P240S|ADC_ENST00000398167.1_Missense_Mutation_p.P240S|ADC_ENST00000358680.3_Intron|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.P240S	p.P240S	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			8	1305	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	240					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.718C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960545	0.92791	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.33	5.33	0.75918	Orn/DAP/Arg decarboxylase 2, conserved site (1);Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.73288	-0.4030	10	0.52906	T	0.07	-8.0843	18.1576	0.89699	0.0:1.0:0.0:0.0	.	240;240;145;240	Q96A70-2;Q96A70-3;D3DPR0;Q96A70	.;.;.;ADC_HUMAN	S	240;252;240;240;240	ENSP00000294517:P240S;ENSP00000362542:P240S;ENSP00000381233:P240S;ENSP00000362540:P240S	ENSP00000294517:P240S	P	+	1	0	ADC	33332866	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.614000	0.82996	2.663000	0.90544	0.655000	0.94253	CCT		0.577	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			22	39	0	0	0	1	0	22	39				
KIF3B	9371	broad.mit.edu	37	20	30897908	30897908	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30897908C>T	ENST00000375712.3	+	2	495	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R110C(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGGAATCCGTGGTGACCC	0.463																																						ENST00000375712.3																			1	Substitution - Missense(1)	p.R110C(1)	breast(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(328-330)Cgt>Tgt		kinesin family member 3B							74.0	68.0	70.0					20																	30897908		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897908C>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.328C>T	20.37:g.30897908C>T	ENSP00000364864:p.Arg110Cys						p.R110C	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	495	+			110			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.328C>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857657	0.51376	.	.	ENSG00000101350	ENST00000375712	T	0.75050	-0.9	4.95	4.0	0.46444	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.66979	0.886;0.948	T	0.78682	-0.2109	10	0.54805	T	0.06	.	14.2121	0.65771	0.0:0.9241:0.0:0.0759	.	110;110	B4DYF2;O15066	.;KIF3B_HUMAN	C	110	ENSP00000364864:R110C	ENSP00000364864:R110C	R	+	1	0	KIF3B	30361569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.063000	0.49978	2.732000	0.93576	0.561000	0.74099	CGT		0.463	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		38	38	0	0	0	1	0	38	38				
SLBP	7884	broad.mit.edu	37	4	1696566	1696566	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1696566G>A	ENST00000489418.1	-	7	997	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	SLBP_ENST00000488267.1_Splice_Site_p.H176Y|SLBP_ENST00000318386.4_Splice_Site_p.H218Y|SLBP_ENST00000429429.2_Splice_Site_p.H172Y	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	211					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCTACAGGGTGTCTGTTAAAC	0.498																																						ENST00000489418.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.e7-1		stem-loop binding protein							113.0	106.0	108.0					4																	1696566		2203	4300	6503	SO:0001630	splice_region_variant	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1696566G>A	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"""histone binding protein"""	602422	"""stem-loop (histone) binding protein"""			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.630-1C>T	4.37:g.1696566G>A						SLBP_ENST00000318386.4_Splice_Site_p.H218_splice|SLBP_ENST00000429429.2_Splice_Site_p.H172_splice|SLBP_ENST00000488267.1_Splice_Site_p.H176_splice	p.H211_splice	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		7	997	-		Breast(71;0.212)|all_epithelial(65;0.241)	211					B3KRJ5	Splice_Site	SNP	ENST00000489418.1	37	c.629_splice	CCDS3350.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294598	0.10567	.	.	ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267	.	.	.	5.36	4.43	0.53597	.	0.941805	0.09032	N	0.858585	T	0.24509	0.0594	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.002	T	0.17379	-1.0371	9	0.06099	T	0.92	-22.1407	9.6707	0.40011	0.0:0.0:0.7407:0.2593	.	176;218;172;191;211	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493	.;.;.;.;SLBP_HUMAN	Y	172;211;191;218;176	.	ENSP00000316490:H218Y	H	-	1	0	SLBP	1666364	0.690000	0.27699	0.676000	0.29932	0.275000	0.26752	1.707000	0.37888	2.526000	0.85167	0.650000	0.86243	CAC		0.498	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527	Missense_Mutation	19	32	0	0	0	1	0	19	32				
PCDHA1	56147	broad.mit.edu	37	5	140167325	140167325	+	Missense_Mutation	SNP	G	G	A	rs371009349		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140167325G>A	ENST00000504120.2	+	1	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1450-1452)Gcg>Acg									66.0	70.0	69.0					5																	140167325		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167325G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1450G>A	5.37:g.140167325G>A	ENSP00000420840:p.Ala484Thr					PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484T	p.A484T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1450	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1450G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	9.433	1.085960	0.20390	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01838	4.61;4.61;4.61	3.69	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.01287	0.0042	N	0.12471	0.22	0.22424	N	0.999112	B;B;P	0.35656	0.236;0.175;0.514	B;B;B	0.29524	0.089;0.022;0.103	T	0.50101	-0.8867	10	0.51188	T	0.08	.	5.367	0.16119	0.1083:0.0:0.6243:0.2674	.	484;484;484	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	T	484	ENSP00000420840:A484T;ENSP00000378129:A484T;ENSP00000367373:A484T	ENSP00000367373:A484T	A	+	1	0	PCDHA1	140147509	0.021000	0.18746	1.000000	0.80357	0.305000	0.27757	0.407000	0.21049	1.805000	0.52779	0.549000	0.68633	GCG		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		26	46	0	0	0	1	0	26	46				
DTNBP1	84062	broad.mit.edu	37	6	15638018	15638018	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15638018G>A	ENST00000344537.5	-	4	351	c.179C>T	c.(178-180)gCt>gTt	p.A60V	DTNBP1_ENST00000338950.5_Missense_Mutation_p.A60V|DTNBP1_ENST00000355917.3_Missense_Mutation_p.A60V	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	60					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTGAAGTGCAGCCCATGTATC	0.358									Hermansky-Pudlak syndrome																													ENST00000338950.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(178-180)gCt>gTt		dystrobrevin binding protein 1							106.0	103.0	104.0					6																	15638018		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15638018G>A	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.179C>T	6.37:g.15638018G>A	ENSP00000341680:p.Ala60Val					DTNBP1_ENST00000355917.3_Missense_Mutation_p.A60V|DTNBP1_ENST00000344537.5_Missense_Mutation_p.A60V	p.A60V	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		4	284	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	60					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.179C>T	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625640	0.14257	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.30714	1.55;1.55;1.52	5.26	5.26	0.73747	.	0.000000	0.52532	D	0.000062	T	0.21921	0.0528	L	0.28192	0.835	0.46279	D	0.998966	B;B;D	0.69078	0.126;0.075;0.997	B;B;D	0.65010	0.039;0.039;0.931	T	0.03051	-1.1078	10	0.02654	T	1	.	15.7726	0.78184	0.0:0.0:1.0:0.0	.	60;60;60	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	V	60;60;25;60;60	ENSP00000341680:A60V;ENSP00000348183:A60V;ENSP00000344718:A60V	ENSP00000344718:A60V	A	-	2	0	DTNBP1	15745997	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.353000	0.52247	2.465000	0.83290	0.455000	0.32223	GCT		0.358	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		25	39	0	0	0	1	0	25	39				
C17orf104	284071	broad.mit.edu	37	17	42744798	42744798	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42744798G>T	ENST00000409122.2	+	5	1661	c.1519G>T	c.(1519-1521)Gct>Tct	p.A507S	C17orf104_ENST00000359945.3_Missense_Mutation_p.A507S|C17orf104_ENST00000409464.1_Missense_Mutation_p.A341S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	507										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTTAAGTGCAGCTTCAAAAGG	0.333																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1519-1521)Gct>Tct		chromosome 17 open reading frame 104							49.0	52.0	51.0					17																	42744798		2203	4300	6503	SO:0001583	missense	284071							g.chr17:42744798G>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1519G>T	17.37:g.42744798G>T	ENSP00000386452:p.Ala507Ser					C17orf104_ENST00000359945.3_Missense_Mutation_p.A507S|C17orf104_ENST00000409464.1_Missense_Mutation_p.A341S	p.A507S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			5	1661	+			507					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1519G>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226699	0.39300	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.33654	1.4;1.4;1.41	5.66	5.66	0.87406	.	0.290403	0.30732	N	0.008984	T	0.37073	0.0990	L	0.34521	1.04	0.26290	N	0.978133	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.56751	0.805;0.805;0.805	T	0.25502	-1.0130	10	0.21014	T	0.42	-26.8423	7.8364	0.29371	0.0805:0.0:0.7149:0.2046	.	507;507;341	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	S	507;507;341	ENSP00000353028:A507S;ENSP00000386452:A507S;ENSP00000386586:A341S	ENSP00000353028:A507S	A	+	1	0	C17orf104	40100324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.222000	0.42926	2.663000	0.90544	0.655000	0.94253	GCT		0.333	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		17	23	1	0	2.35188e-11	1	2.53156e-11	17	23				
LRRC32	2615	broad.mit.edu	37	11	76371565	76371565	+	Missense_Mutation	SNP	G	G	A	rs150096749	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:76371565G>A	ENST00000407242.2	-	3	1314	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R358C|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.R358C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	358					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.R358C(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGCCTAAGCGCCGGGCCTCA	0.597													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17791	0.0		0.002	False		,,,				2504	0.0					ENST00000407242.2																			1	Substitution - Missense(1)	p.R358C(1)	upper_aerodigestive_tract(1)	endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1072-1074)Cgc>Tgc		leucine rich repeat containing 32		G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	27.0	27.0	27.0		1072,1072	3.3	0.0	11	dbSNP_134	27	3,8581	3.0+/-9.4	0,3,4289	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	180,180	0,3,6489	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	358/663,358/663	76371565	3,12981	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371565G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1072C>T	11.37:g.76371565G>A	ENSP00000384126:p.Arg358Cys					LRRC32_ENST00000260061.5_Missense_Mutation_p.R358C|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R358C|AP001189.4_ENST00000447519.1_RNA	p.R358C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1314	-			358					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1072C>T	CCDS8245.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	7.098	0.573461	0.13623	0.0	3.49E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04275	3.66;3.66;3.66	4.26	3.33	0.38152	.	1.580380	0.03205	N	0.175417	T	0.05731	0.0150	L	0.44542	1.39	0.09310	N	1	P	0.50617	0.937	B	0.38296	0.27	T	0.34153	-0.9840	10	0.44086	T	0.13	.	5.3611	0.16087	0.1339:0.0:0.6674:0.1987	.	358	Q14392	LRC32_HUMAN	C	358	ENSP00000260061:R358C;ENSP00000384126:R358C;ENSP00000385766:R358C	ENSP00000260061:R358C	R	-	1	0	LRRC32	76049213	0.000000	0.05858	0.001000	0.08648	0.607000	0.37147	0.700000	0.25601	0.984000	0.38629	0.484000	0.47621	CGC		0.597	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		3	13	0	0	0	1	0	3	13				
CUL4B	8450	broad.mit.edu	37	X	119694003	119694003	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119694003G>A	ENST00000404115.3	-	3	946	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CUL4B_ENST00000371322.5_Missense_Mutation_p.T164I|CUL4B_ENST00000336592.6_Missense_Mutation_p.T169I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	182	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTAGAGACGGTGGTAGAAGA	0.418																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(490-492)aCc>aTc		cullin 4B							127.0	117.0	120.0					X																	119694003		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694003G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.545C>T	X.37:g.119694003G>A	ENSP00000384109:p.Thr182Ile					CUL4B_ENST00000336592.6_Missense_Mutation_p.T169I|CUL4B_ENST00000404115.3_Missense_Mutation_p.T182I	p.T164I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	552	-			182			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.491C>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498312	0.26861	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.68903	-0.36;-0.36;-0.36	5.53	5.53	0.82687	.	0.491224	0.23472	N	0.047817	T	0.59183	0.2175	L	0.40543	1.245	0.30121	N	0.805714	B;B	0.10296	0.002;0.003	B;B	0.09377	0.003;0.004	T	0.53099	-0.8486	9	.	.	.	-2.2138	17.3869	0.87418	0.0:0.0:1.0:0.0	.	182;164	Q13620;Q13620-1	CUL4B_HUMAN;.	I	164;169;182	ENSP00000360373:T164I;ENSP00000338919:T169I;ENSP00000384109:T182I	.	T	-	2	0	CUL4B	119578031	1.000000	0.71417	0.987000	0.45799	0.661000	0.39034	5.308000	0.65768	2.319000	0.78375	0.529000	0.55759	ACC		0.418	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		32	7	0	0	0	1	0	32	7				
LRRIQ3	127255	broad.mit.edu	37	1	74648511	74648511	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74648511C>T	ENST00000395089.1	-	2	283	c.284G>A	c.(283-285)gGa>gAa	p.G95E	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.G95E			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	95										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTTCTTCAATCCATTCCAAAA	0.308																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(283-285)gGa>gAa		leucine-rich repeats and IQ motif containing 3							51.0	51.0	51.0					1																	74648511		2203	4298	6501	SO:0001583	missense	127255							g.chr1:74648511C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.284G>A	1.37:g.74648511C>T	ENSP00000378524:p.Gly95Glu					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95E|LRRIQ3_ENST00000370909.2_Intron	p.G95E	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	475	-			95					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.284G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485080	0.44147	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.10005	2.92;2.92;2.92	5.66	4.56	0.56223	.	0.371283	0.26045	N	0.026677	T	0.02970	0.0088	N	0.20401	0.57	0.28617	N	0.908369	P	0.35944	0.529	B	0.38921	0.285	T	0.32824	-0.9892	10	0.42905	T	0.14	.	7.5976	0.28056	0.0:0.7753:0.0:0.2247	.	95	A6PVS8	LRIQ3_HUMAN	E	95	ENSP00000378524:G95E;ENSP00000346414:G95E;ENSP00000359948:G95E	ENSP00000346414:G95E	G	-	2	0	LRRIQ3	74421099	0.653000	0.27358	0.999000	0.59377	0.994000	0.84299	0.416000	0.21198	2.658000	0.90341	0.655000	0.94253	GGA		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	44	0	0	0	1	0	8	44				
NRBP1	29959	broad.mit.edu	37	2	27664668	27664668	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27664668G>A	ENST00000233557.3	+	19	2429	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.V533I|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.V541I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	533					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CGCTGTCACCGTCTCCTCTTA	0.587																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1597-1599)Gtc>Atc		nuclear receptor binding protein 1							103.0	105.0	105.0					2																	27664668		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664668G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1597G>A	2.37:g.27664668G>A	ENSP00000233557:p.Val533Ile					NRBP1_ENST00000379863.3_Missense_Mutation_p.V541I|NRBP1_ENST00000379852.3_Missense_Mutation_p.V533I	p.V533I			Q9UHY1	NRBP_HUMAN			19	2429	+	Acute lymphoblastic leukemia(172;0.155)		533					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1597G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839766	0.91117	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14766	2.77;2.77;2.48	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.40543	1.245	0.58432	D	0.999996	P;D;D	0.67145	0.91;0.996;0.992	P;P;P	0.56343	0.796;0.772;0.596	T	0.00292	-1.1842	10	0.72032	D	0.01	-12.8236	18.0752	0.89425	0.0:0.0:1.0:0.0	.	513;541;533	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	I	533;513;533;541	ENSP00000233557:V533I;ENSP00000369181:V533I;ENSP00000369192:V541I	ENSP00000233557:V533I	V	+	1	0	NRBP1	27518172	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.687000	0.74552	2.615000	0.88500	0.561000	0.74099	GTC		0.587	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		49	56	0	0	0	1	0	49	56				
LOXL1	4016	broad.mit.edu	37	15	74241882	74241882	+	Missense_Mutation	SNP	G	G	A	rs557975431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74241882G>A	ENST00000261921.7	+	6	2011	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	LOXL1_ENST00000567675.1_Intron	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	562	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACACAGGTCGCTACGTTTCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		23295	0.0		0.0	False		,,,				2504	0.001					ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1684-1686)cGc>cAc		lysyl oxidase-like 1							177.0	157.0	164.0					15																	74241882		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74241882G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1685G>A	15.37:g.74241882G>A	ENSP00000261921:p.Arg562His					LOXL1_ENST00000567675.1_Intron	p.R562H	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			6	2011	+			562			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1685G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755335	0.69648	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.29917	1.55	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	N	0.03268	-0.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09684	-1.0663	10	0.05620	T	0.96	.	16.9156	0.86150	0.0:0.0:1.0:0.0	.	562	Q08397	LOXL1_HUMAN	H	562;424	ENSP00000261921:R562H	ENSP00000261921:R562H	R	+	2	0	LOXL1	72028935	1.000000	0.71417	0.994000	0.49952	0.643000	0.38383	5.583000	0.67484	2.318000	0.78349	0.563000	0.77884	CGC		0.507	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		13	81	0	0	0	1	0	13	81				
TRAV38-1	28644	broad.mit.edu	37	14	22740374	22740374	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22740374A>G	ENST00000390464.2	+	0	281									T cell receptor alpha variable 38-1																		AAAGCAGCCAAATCCTTCAGT	0.483																																						ENST00000390464.2																			0																				55.0	57.0	57.0					14																	22740374		1924	4134	6058			0							g.chr14:22740374A>G	AE000661		14q11.2	2012-02-07			ENSG00000211816	ENSG00000211816		"""T cell receptors / TRA locus"""	12137	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV381, TCRAV14S2, TCRAV38S1			OTTHUMG00000170837		14.37:g.22740374A>G														0	281	+									RNA	SNP	ENST00000390464.2	37																																																																																						0.483	TRAV38-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410663.1	NG_001332		5	32	0	0	0	1	0	5	32				
IDI2	91734	broad.mit.edu	37	10	1065665	1065665	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1065665A>G	ENST00000277517.1	-	5	540	c.476T>C	c.(475-477)gTc>gCc	p.V159A	GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	159	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTTCAGAGTGACGTTTTTCCT	0.493																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(475-477)gTc>gCc		isopentenyl-diphosphate delta isomerase 2							141.0	122.0	129.0					10																	1065665		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065665A>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.476T>C	10.37:g.1065665A>G	ENSP00000277517:p.Val159Ala					GTPBP4_ENST00000360803.4_3'UTR	p.V159A	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	540	-		Colorectal(49;0.235)	159			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.476T>C	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556648	0.45487	.	.	ENSG00000148377	ENST00000277517	T	0.07800	3.16	3.55	3.55	0.40652	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205027	0.40385	U	0.001114	T	0.19967	0.0480	L	0.56769	1.78	0.23899	N	0.996527	P	0.51791	0.948	P	0.61132	0.884	T	0.01130	-1.1442	10	0.66056	D	0.02	-9.3405	11.0697	0.47995	1.0:0.0:0.0:0.0	.	159	Q9BXS1	IDI2_HUMAN	A	159	ENSP00000277517:V159A	ENSP00000277517:V159A	V	-	2	0	IDI2	1055665	0.571000	0.26659	0.001000	0.08648	0.015000	0.08874	5.914000	0.69964	1.611000	0.50210	0.155000	0.16302	GTC		0.493	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		10	61	0	0	0	1	0	10	61				
CPXM2	119587	broad.mit.edu	37	10	125526622	125526622	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125526622C>T	ENST00000241305.3	-	10	1500	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	449					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GATGTCAATTCCATCGTGGGT	0.542																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1345-1347)gGa>gAa		carboxypeptidase X (M14 family), member 2							138.0	130.0	133.0					10																	125526622		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526622C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1346G>A	10.37:g.125526622C>T	ENSP00000241305:p.Gly449Glu					CPXM2_ENST00000368854.3_5'UTR	p.G449E	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1500	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	449					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1346G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724932	0.48833	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.21734	1.99	4.69	3.79	0.43588	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62181	-0.6908	10	0.66056	D	0.02	-8.964	12.881	0.58017	0.0:0.9217:0.0:0.0783	.	449	Q8N436	CPXM2_HUMAN	E	449;282;449	ENSP00000241305:G449E	ENSP00000241305:G449E	G	-	2	0	CPXM2	125516612	1.000000	0.71417	0.058000	0.19502	0.107000	0.19398	7.624000	0.83124	1.194000	0.43101	-0.142000	0.14014	GGA		0.542	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		16	22	0	0	0	1	0	16	22				
MUC4	4585	broad.mit.edu	37	3	195475931	195475931	+	Silent	SNP	G	G	A	rs549551495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195475931G>A	ENST00000346145.4	-	23	3207	c.3168C>T	c.(3166-3168)aaC>aaT	p.N1056N	MUC4_ENST00000475231.1_Silent_p.N5240N|MUC4_ENST00000463781.3_Silent_p.N5292N|MUC4_ENST00000349607.4_Silent_p.N1005N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2049					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGTGCTCACGTTCACTGTCG	0.517																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15874-15876)aaC>aaT		mucin 4, cell surface associated							67.0	60.0	63.0					3																	195475931		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195475931G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3168C>T	3.37:g.195475931G>A						MUC4_ENST00000475231.1_Silent_p.N5240N|MUC4_ENST00000349607.4_Silent_p.N1005N|MUC4_ENST00000346145.4_Silent_p.N1056N	p.N5292N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	24	16335	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2049					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15876C>T	CCDS3310.1																																																																																				0.517	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		4	23	0	0	0	1	0	4	23				
SLC22A12	116085	broad.mit.edu	37	11	64368360	64368360	+	Silent	SNP	C	C	T	rs145764379		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64368360C>T	ENST00000377574.1	+	9	2295	c.1548C>T	c.(1546-1548)ccC>ccT	p.P516P	SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000377567.2_Silent_p.P408P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	516					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TGCTTCTGCCCGAGACCCAGA	0.667																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1546-1548)ccC>ccT		solute carrier family 22 (organic anion/urate transporter), member 12		C	,	0,4402		0,0,2201	88.0	90.0	89.0		1548,885	-2.8	0.9	11	dbSNP_134	89	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous	SLC22A12	NM_144585.2,NM_153378.1	,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,	516/554,295/333	64368360	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368360C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1548C>T	11.37:g.64368360C>T						SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000377567.2_Silent_p.P408P|SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000377572.1_Silent_p.P408P	p.P516P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			9	2295	+			516					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.1548C>T	CCDS8075.1																																																																																				0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		25	59	0	0	0	1	0	25	59				
ATF7IP2	80063	broad.mit.edu	37	16	10524604	10524604	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10524604G>A	ENST00000396560.2	+	3	354	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G43R|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G43R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G43R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AACAGCAATTGGGAGTAATGT	0.418																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(127-129)Ggg>Agg		activating transcription factor 7 interacting protein 2							76.0	72.0	73.0					16																	10524604		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524604G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.127G>A	16.37:g.10524604G>A	ENSP00000379808:p.Gly43Arg					ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G43R|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G43R|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G43R	p.G43R	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	354	+			43					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.127G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965604	0.18583	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T	0.39592	1.95;1.07;1.95	5.25	0.774	0.18521	.	1.554780	0.04051	N	0.304703	T	0.29158	0.0725	N	0.25647	0.755	0.09310	N	1	B;B	0.27351	0.053;0.176	B;B	0.24541	0.037;0.054	T	0.25328	-1.0135	10	0.44086	T	0.13	-1.0E-4	4.3676	0.11232	0.2844:0.1676:0.548:0.0	.	43;43	Q5U623-2;Q5U623	.;MCAF2_HUMAN	R	43	ENSP00000379808:G43R;ENSP00000440791:G43R;ENSP00000348799:G43R	ENSP00000322811:G43R	G	+	1	0	ATF7IP2	10432105	0.300000	0.24435	0.201000	0.23476	0.602000	0.36980	1.008000	0.29872	0.608000	0.30000	0.467000	0.42956	GGG		0.418	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		27	39	0	0	0	1	0	27	39				
OR5L2	26338	broad.mit.edu	37	11	55594809	55594809	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55594809T>C	ENST00000378397.1	+	1	115	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGAGTCACGTTGTTAGCCAA	0.507										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(115-117)Ttg>Ctg		olfactory receptor, family 5, subfamily L, member 2							304.0	268.0	280.0					11																	55594809		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594809T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.115T>C	11.37:g.55594809T>C		HNSCC(27;0.073)					p.L39L	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	115	+		all_epithelial(135;0.208)	39					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.115T>C	CCDS31511.1																																																																																				0.507	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	169	0	0	0	1	0	5	169				
ZCWPW1	55063	broad.mit.edu	37	7	99998766	99998766	+	Silent	SNP	G	G	A	rs183111731		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99998766G>A	ENST00000398027.2	-	18	2065	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.D435D|ZCWPW1_ENST00000490721.1_Silent_p.D435D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	606							zinc ion binding (GO:0008270)	p.D606D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGGCTTCGTCCTCAAGGG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		16743	0.0		0.001	False		,,,				2504	0.0					ENST00000398027.2																			1	Substitution - coding silent(1)	p.D606D(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1816-1818)gaC>gaT		zinc finger, CW type with PWWP domain 1							48.0	50.0	49.0					7																	99998766		1983	4167	6150	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998766G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1818C>T	7.37:g.99998766G>A						ZCWPW1_ENST00000490721.1_Silent_p.D435D|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.D435D	p.D606D	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	2065	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		606					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1818C>T	CCDS43623.1																																																																																				0.622	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		9	24	0	0	0	1	0	9	24				
OTUD3	23252	broad.mit.edu	37	1	20220882	20220882	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20220882G>A	ENST00000375120.3	+	3	393	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	131	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAAGCCTGGTACTTTTGCT	0.398																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(391-393)gGt>gAt		OTU domain containing 3							140.0	131.0	134.0					1																	20220882		1872	4106	5978	SO:0001583	missense	23252							g.chr1:20220882G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.392G>A	1.37:g.20220882G>A	ENSP00000364261:p.Gly131Asp					OTUD3_ENST00000466697.1_3'UTR	p.G131D	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	393	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	131			OTU.		O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.392G>A	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187836	0.94923	.	.	ENSG00000169914	ENST00000375120	T	0.32272	1.46	5.92	5.92	0.95590	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67577	-0.5635	10	0.45353	T	0.12	.	18.8852	0.92375	0.0:0.0:1.0:0.0	.	131	Q5T2D3	OTUD3_HUMAN	D	131	ENSP00000364261:G131D	ENSP00000364261:G131D	G	+	2	0	OTUD3	20093469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.628000	0.90979	2.804000	0.96469	0.655000	0.94253	GGT		0.398	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			19	32	0	0	0	1	0	19	32				
PSMD5	5711	broad.mit.edu	37	9	123580192	123580192	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123580192C>T	ENST00000210313.3	-	10	1581	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PSMD5_ENST00000373904.5_Missense_Mutation_p.A460T|PSMD5_ENST00000604848.1_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	503					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AATCATTCGGCTCCTTCTACT	0.423																																						ENST00000210313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						c.(1507-1509)Gcc>Acc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 5							88.0	87.0	87.0					9																	123580192		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123580192C>T	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.1507G>A	9.37:g.123580192C>T	ENSP00000210313:p.Ala503Thr					PSMD5_ENST00000373904.5_Missense_Mutation_p.A460T|PSMD5_ENST00000604848.1_Intron	p.A503T	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN			10	1581	-			503					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.1507G>A	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412268	0.96072	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.38240	1.15;1.15	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.981;0.986	T	0.67492	-0.5657	10	0.72032	D	0.01	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	460;503	B4DZM8;Q16401	.;PSMD5_HUMAN	T	503;460	ENSP00000210313:A503T;ENSP00000363011:A460T	ENSP00000210313:A503T	A	-	1	0	PSMD5	122620013	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.487000	0.81328	2.715000	0.92844	0.655000	0.94253	GCC		0.423	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		26	42	0	0	0	1	0	26	42				
SURF6	6838	broad.mit.edu	37	9	136198745	136198745	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136198745C>T	ENST00000372022.4	-	5	1311	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	349					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CGGCAGGATGCGGCCCTTCTT	0.697																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(1045-1047)cGc>cAc		surfeit 6							12.0	13.0	13.0					9																	136198745		2118	4174	6292	SO:0001583	missense	6838					granular component	DNA binding|RNA binding	g.chr9:136198745C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.1046G>A	9.37:g.136198745C>T	ENSP00000361092:p.Arg349His					SURF6_ENST00000468290.1_5'UTR	p.R349H	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	1311	-			349					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	c.1046G>A	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168322	0.94768	.	.	ENSG00000148296	ENST00000372022	T	0.17370	2.28	5.0	5.0	0.66597	.	0.053502	0.64402	D	0.000001	T	0.48095	0.1481	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56541	-0.7962	10	0.87932	D	0	-11.9117	17.2642	0.87081	0.0:1.0:0.0:0.0	.	349	O75683	SURF6_HUMAN	H	349	ENSP00000361092:R349H	ENSP00000361092:R349H	R	-	2	0	SURF6	135188566	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.166000	0.64965	2.310000	0.77875	0.467000	0.42956	CGC		0.697	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		3	7	0	0	0	1	0	3	7				
APOBEC3B	9582	broad.mit.edu	37	22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	rs374260464		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGGGGAAGTGCGTGCGTTCCT	0.582																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(880-882)Cgt>Tgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							102.0	103.0	103.0					22																	39387493		2198	4283	6481	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387493C>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.880C>T	22.37:g.39387493C>T	ENSP00000327459:p.Arg294Cys					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C	p.R294C			Q9UH17	ABC3B_HUMAN			6	935	+	Melanoma(58;0.04)		294					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.880C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	APOBEC3B	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT		0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		55	117	0	0	0	1	0	55	117				
HSPA4	3308	broad.mit.edu	37	5	132437570	132437570	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132437570G>T	ENST00000304858.2	+	17	2446	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	719					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAAACAAGGTAACTTTTT	0.328																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.e17+1		heat shock 70kDa protein 4							52.0	50.0	50.0					5																	132437570		2203	4298	6501	SO:0001630	splice_region_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132437570G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2157+1G>T	5.37:g.132437570G>T							p.K719_splice	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		17	2446	+			719					O95756|Q2TAL4|Q9BUK9	Splice_Site	SNP	ENST00000304858.2	37	c.2157_splice	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814164	0.50527	.	.	ENSG00000170606	ENST00000304858	T	0.13657	2.57	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.49640	1.575	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.01081	-1.1458	10	0.27785	T	0.31	-17.1515	18.7053	0.91635	0.0:0.0:1.0:0.0	.	719	P34932	HSP74_HUMAN	N	719	ENSP00000302961:K719N	ENSP00000302961:K719N	K	+	3	2	HSPA4	132465469	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.415000	0.80131	2.503000	0.84419	0.579000	0.79373	AAG		0.328	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	Missense_Mutation	4	16	1	0	0.00024832	1	0.000253518	4	16				
EGR1	1958	broad.mit.edu	37	5	137803153	137803153	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137803153G>A	ENST00000239938.4	+	2	1287	c.1015G>A	c.(1015-1017)Gct>Act	p.A339T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	339					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCCTTACGCTTGCCCAGT	0.647																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1015-1017)Gct>Act		early growth response 1							81.0	88.0	85.0					5																	137803153		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803153G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1015G>A	5.37:g.137803153G>A	ENSP00000239938:p.Ala339Thr						p.A339T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1287	+			339						Missense_Mutation	SNP	ENST00000239938.4	37	c.1015G>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752785	0.49362	.	.	ENSG00000120738	ENST00000239938	T	0.14893	2.47	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.055116	0.64402	D	0.000001	T	0.40979	0.1139	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	T	0.49041	-0.8980	10	0.87932	D	0	-22.9435	15.72	0.77700	0.0:0.0:1.0:0.0	.	339	P18146	EGR1_HUMAN	T	339	ENSP00000239938:A339T	ENSP00000239938:A339T	A	+	1	0	EGR1	137831052	1.000000	0.71417	0.965000	0.40720	0.636000	0.38137	6.372000	0.73123	2.177000	0.69029	0.563000	0.77884	GCT		0.647	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		22	35	0	0	0	1	0	22	35				
DIP2A	23181	broad.mit.edu	37	21	47959821	47959821	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47959821C>T	ENST00000417564.2	+	17	1974	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	DIP2A_ENST00000400274.1_Silent_p.N647N|DIP2A_ENST00000466639.1_Silent_p.N608N|DIP2A_ENST00000435722.3_Silent_p.N651N|DIP2A_ENST00000427143.2_Silent_p.N587N|DIP2A_ENST00000457905.3_Silent_p.N651N|DIP2A_ENST00000318711.7_Silent_p.N652N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	651					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTTCCTCAACGTCTTCCAGT	0.587																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1954-1956)aaC>aaT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							146.0	155.0	152.0					21																	47959821		2131	4226	6357	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959821C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1953C>T	21.37:g.47959821C>T						DIP2A_ENST00000427143.2_Silent_p.N587N|DIP2A_ENST00000400274.1_Silent_p.N647N|DIP2A_ENST00000466639.1_Silent_p.N608N|DIP2A_ENST00000457905.3_Silent_p.N651N|DIP2A_ENST00000435722.3_Silent_p.N651N|DIP2A_ENST00000417564.2_Silent_p.N651N	p.N652N	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	17	2139	+	Breast(49;0.0933)		651					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1956C>T	CCDS46655.1																																																																																				0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		28	22	0	0	0	1	0	28	22				
NCOR2	9612	broad.mit.edu	37	12	124827614	124827614	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124827614G>A	ENST00000405201.1	-	33	4873	c.4873C>T	c.(4873-4875)Cgc>Tgc	p.R1625C	NCOR2_ENST00000429285.2_Missense_Mutation_p.R1615C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1186C|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1632C|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1615C|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1616C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1633					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATGTGGCTGCGATACAGGTCC	0.672																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4894-4896)Cgc>Tgc		nuclear receptor corepressor 2							36.0	44.0	42.0					12																	124827614		2146	4228	6374	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827614G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4873C>T	12.37:g.124827614G>A	ENSP00000384018:p.Arg1625Cys					NCOR2_ENST00000404621.1_Missense_Mutation_p.R1615C|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1615C|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1625C|NCOR2_ENST00000404121.2_Missense_Mutation_p.R1186C|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1616C	p.R1632C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	34	5049	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1633					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4894C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545928	0.27652	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.27	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.78637	2.42	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.77294	-0.2641	10	0.87932	D	0	-30.763	14.5575	0.68113	0.0:0.0:0.6314:0.3686	.	1615;1616;1625	C9J0Q5;C9J239;C9JFD3	.;.;.	C	1625;1615;1632;1616;1624;1186;1615	ENSP00000384018:R1625C;ENSP00000384202:R1615C;ENSP00000348551:R1632C;ENSP00000380513:R1616C;ENSP00000385618:R1186C;ENSP00000400281:R1615C	ENSP00000348551:R1632C	R	-	1	0	NCOR2	123393567	1.000000	0.71417	0.997000	0.53966	0.270000	0.26580	3.810000	0.55613	1.181000	0.42912	-0.181000	0.13052	CGC		0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	17	0	0	0	1	0	8	17				
NBR1	4077	broad.mit.edu	37	17	41341626	41341626	+	Missense_Mutation	SNP	G	G	A	rs536512807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41341626G>A	ENST00000422280.1	+	8	961	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	NBR1_ENST00000341165.6_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K|NBR1_ENST00000589872.1_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	168					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.E168K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGTGGTTAACGAAACGGTTGA	0.393																																						ENST00000422280.1																			1	Substitution - Missense(1)	p.E168K(1)	kidney(1)	NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(502-504)Gaa>Aaa		neighbor of BRCA1 gene 1							74.0	73.0	73.0					17																	41341626		1844	4091	5935	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341626G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.502G>A	17.37:g.41341626G>A	ENSP00000411250:p.Glu168Lys					NBR1_ENST00000341165.6_Missense_Mutation_p.E168K|NBR1_ENST00000590996.1_Missense_Mutation_p.E168K|NBR1_ENST00000589872.1_Missense_Mutation_p.E168K|NBR1_ENST00000542611.1_Missense_Mutation_p.E147K|NBR1_ENST00000389312.4_Missense_Mutation_p.E168K	p.E168K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	961	+		Breast(137;0.00086)	168					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.502G>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.615451	0.96649	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.57752	1.06;0.38;1.06;1.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	T	0.71543	-0.4561	10	0.46703	T	0.11	-15.7257	20.206	0.98277	0.0:0.0:1.0:0.0	.	147;168;168	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	K	168;147;168;168;168	ENSP00000411250:E168K;ENSP00000437545:E147K;ENSP00000343479:E168K;ENSP00000373963:E168K	ENSP00000343479:E168K	E	+	1	0	NBR1	38595152	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.238000	0.89809	2.785000	0.95823	0.655000	0.94253	GAA		0.393	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		22	34	0	0	0	1	0	22	34				
CEP170	9859	broad.mit.edu	37	1	243303262	243303262	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243303262G>A	ENST00000366542.1	-	16	4258	c.4207C>T	c.(4207-4209)Cgg>Tgg	p.R1403W	CEP170_ENST00000481987.1_Missense_Mutation_p.R139W|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R1279W|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.R112W|CEP170_ENST00000366544.1_Missense_Mutation_p.R1305W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1403	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.R1403W(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGGTTCTCCGCCTTGTAATT	0.428																																						ENST00000366542.1																			1	Substitution - Missense(1)	p.R1403W(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(4207-4209)Cgg>Tgg		centrosomal protein 170kDa							43.0	42.0	42.0					1																	243303262		1831	4079	5910	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243303262G>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4207C>T	1.37:g.243303262G>A	ENSP00000355500:p.Arg1403Trp					CEP170_ENST00000481987.1_Missense_Mutation_p.R139W|CEP170_ENST00000366544.1_Missense_Mutation_p.R1305W|CEP170_ENST00000468254.1_5'UTR|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000490813.1_Missense_Mutation_p.R112W|CEP170_ENST00000366543.1_Missense_Mutation_p.R1279W	p.R1403W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		16	4258	-	all_neural(11;0.101)	all_cancers(173;0.003)	1403			Targeting to centrosomes.|Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.4207C>T	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361382	0.61403	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936	T;T;T	0.51325	0.73;0.71;0.75	5.27	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.58101	1.795	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.995;0.996	T	0.65319	-0.6197	10	0.87932	D	0	-9.9077	12.9602	0.58453	0.0:0.0:0.4435:0.5565	.	1376;1305;1279;1403	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	W	1403;1305;1279;139;338;112;195;112	ENSP00000355500:R1403W;ENSP00000355502:R1305W;ENSP00000355501:R1279W	ENSP00000355500:R1403W	R	-	1	2	CEP170	241369885	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.441000	0.44864	0.669000	0.31146	0.557000	0.71058	CGG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		11	23	0	0	0	1	0	11	23				
SPTBN4	57731	broad.mit.edu	37	19	41025863	41025863	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41025863C>T	ENST00000352632.3	+	16	3545	c.3459C>T	c.(3457-3459)agC>agT	p.S1153S	SPTBN4_ENST00000595535.1_Silent_p.S1153S|SPTBN4_ENST00000344104.3_Silent_p.S1153S|SPTBN4_ENST00000338932.3_Silent_p.S1153S|SPTBN4_ENST00000598249.1_Silent_p.S1153S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1153					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCGGCCAGCGAGGCGCTGC	0.687																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3457-3459)agC>agT		spectrin, beta, non-erythrocytic 4							5.0	6.0	6.0					19																	41025863		1813	3660	5473	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41025863C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3459C>T	19.37:g.41025863C>T						SPTBN4_ENST00000595535.1_Silent_p.S1153S|SPTBN4_ENST00000338932.3_Silent_p.S1153S|SPTBN4_ENST00000598249.1_Silent_p.S1153S|SPTBN4_ENST00000344104.3_Silent_p.S1153S	p.S1153S			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3545	+			1153					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.3459C>T	CCDS12559.1																																																																																				0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	5	0	0	0	1	0	3	5				
HGS	9146	broad.mit.edu	37	17	79667775	79667775	+	Silent	SNP	G	G	A	rs372082555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79667775G>A	ENST00000329138.4	+	20	2202	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	689	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CTCAGCCTCCGCAGTCCAGCA	0.662																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2065-2067)ccG>ccA		hepatocyte growth factor-regulated tyrosine kinase substrate		G		1,4405	2.1+/-5.4	0,1,2202	36.0	35.0	36.0		2067	-5.4	0.0	17		36	0,8600		0,0,4300	no	coding-synonymous	HGS	NM_004712.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		689/778	79667775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667775G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2067G>A	17.37:g.79667775G>A							p.P689P	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2202	+	all_neural(118;0.0878)|all_lung(278;0.23)		689			Gln-rich.|Interaction with NF2.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.2067G>A	CCDS11784.1																																																																																				0.662	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		8	18	0	0	0	1	0	8	18				
CHST3	9469	broad.mit.edu	37	10	73767545	73767545	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767545C>T	ENST00000373115.4	+	3	1193	c.756C>T	c.(754-756)tgC>tgT	p.C252C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	252					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ACCGCCGCTGCGGCCCCCTCA	0.682																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(754-756)tgC>tgT		carbohydrate (chondroitin 6) sulfotransferase 3							13.0	13.0	13.0					10																	73767545		2102	4088	6190	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767545C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.756C>T	10.37:g.73767545C>T							p.C252C	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	1193	+			252					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.756C>T	CCDS7312.1																																																																																				0.682	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		5	13	0	0	0	1	0	5	13				
AGTPBP1	23287	broad.mit.edu	37	9	88162166	88162166	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88162166C>T	ENST00000357081.3	-	26	3683	c.3539G>A	c.(3538-3540)cGa>cAa	p.R1180Q	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D629N|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R1140Q|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1192Q|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1180					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCAAGGAATCGAGGTTCATC	0.378																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3538-3540)cGa>cAa		ATP/GTP binding protein 1							129.0	115.0	120.0					9																	88162166		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88162166C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3539G>A	9.37:g.88162166C>T	ENSP00000349592:p.Arg1180Gln					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1192Q|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R1140Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D629N	p.R1180Q			Q9UPW5	CBPC1_HUMAN			26	3683	-			1180					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3539G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.09|17.09	3.299153|3.299153	0.60195|0.60195	.|.	.|.	ENSG00000135049|ENSG00000135049	ENST00000432218|ENST00000357081;ENST00000376083;ENST00000376109	T|T;T;T	0.45276|0.19532	0.9|2.17;2.17;2.14	5.89|5.89	4.99|4.99	0.66335|0.66335	.|.	.|0.322527	.|0.32884	.|N	.|0.005531	T|T	0.16471|0.16471	0.0396|0.0396	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|P;D;D	0.02656|0.57257	0.0|0.512;0.964;0.979	B|B;B;B	0.01281|0.43123	0.0|0.047;0.389;0.409	T|T	0.02909|0.02909	-1.1095|-1.1095	9|10	0.16420|0.20046	T|T	0.52|0.44	-12.1578|-12.1578	15.4491|15.4491	0.75259|0.75259	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	629|1192;1180;1140	B4DHX2|Q9UPW5-3;Q9UPW5;Q9UPW5-2	.|.;CBPC1_HUMAN;.	N|Q	629|1180;1140;1192	ENSP00000402804:D629N|ENSP00000349592:R1180Q;ENSP00000365251:R1140Q;ENSP00000365277:R1192Q	ENSP00000402804:D629N|ENSP00000349592:R1180Q	D|R	-|-	1|2	0|0	AGTPBP1|AGTPBP1	87351986|87351986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.264000|3.264000	0.51553|0.51553	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.378	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		5	47	0	0	0	1	0	5	47				
PRICKLE1	144165	broad.mit.edu	37	12	42854165	42854165	+	Missense_Mutation	SNP	G	G	A	rs370129051		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:42854165G>A	ENST00000455697.1	-	8	2227	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R648W|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R648W|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	648					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGAGGCTGCCGGATTTCAATG	0.507																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(1942-1944)Cgg>Tgg		prickle homolog 1 (Drosophila)							68.0	66.0	67.0					12																	42854165		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854165G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1942C>T	12.37:g.42854165G>A	ENSP00000401060:p.Arg648Trp					RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R648W|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R648W|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R648W|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R648W	p.R648W	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2227	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		648					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1942C>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.477125	0.63849	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.53	4.59	0.56863	.	0.103423	0.64402	D	0.000002	D	0.94542	0.8242	M	0.70275	2.135	0.53688	D	0.999977	D	0.89917	1.0	D	0.74674	0.984	D	0.94812	0.7979	10	0.87932	D	0	-11.1815	16.3162	0.82928	0.0:0.0:0.8677:0.1323	.	648	Q96MT3	PRIC1_HUMAN	W	648	ENSP00000401060:R648W;ENSP00000398947:R648W;ENSP00000448359:R648W;ENSP00000345064:R648W;ENSP00000449819:R648W	ENSP00000345064:R648W	R	-	1	2	PRICKLE1	41140432	0.916000	0.31088	0.979000	0.43373	0.995000	0.86356	2.039000	0.41193	2.759000	0.94783	0.650000	0.86243	CGG		0.507	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			25	48	0	0	0	1	0	25	48				
FAM179B	23116	broad.mit.edu	37	14	45523680	45523680	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45523680G>A	ENST00000361577.3	+	15	4542	c.4328G>A	c.(4327-4329)cGa>cAa	p.R1443Q	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R1496Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1443										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAGGAAGACGATCTCATACT	0.343																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4486-4488)cGa>cAa		family with sequence similarity 179, member B							104.0	98.0	100.0					14																	45523680		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45523680G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4328G>A	14.37:g.45523680G>A	ENSP00000355045:p.Arg1443Gln					FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1443Q	p.R1496Q			Q9Y4F4	F179B_HUMAN			16	4670	+			1443					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4487G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802000	0.90538	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.23950	1.88;1.88	4.88	4.88	0.63580	Armadillo-type fold (1);	0.130516	0.52532	D	0.000068	T	0.43986	0.1272	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.87578	0.707;0.998	T	0.27806	-1.0063	10	0.46703	T	0.11	-7.6993	16.6513	0.85203	0.0:0.0:1.0:0.0	.	1496;1443	G3XAE9;Q9Y4F4	.;F179B_HUMAN	Q	1443;1496	ENSP00000355045:R1443Q;ENSP00000354917:R1496Q	ENSP00000354917:R1496Q	R	+	2	0	FAM179B	44593430	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.283000	0.58977	2.253000	0.74438	0.644000	0.83932	CGA		0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		32	43	0	0	0	1	0	32	43				
ZNF592	9640	broad.mit.edu	37	15	85343171	85343171	+	Missense_Mutation	SNP	C	C	T	rs118045501		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85343171C>T	ENST00000560079.2	+	10	3524	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	ZNF592_ENST00000299927.3_Missense_Mutation_p.T1079M	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1079					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGAGCCAGACGTCCAAAGTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21402	0.0		0.001	False		,,,				2504	0.0					ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3235-3237)aCg>aTg		zinc finger protein 592		C	MET/THR	6,4400	9.9+/-24.2	0,6,2197	118.0	116.0	117.0		3236	5.6	1.0	15	dbSNP_132	117	5,8593	4.3+/-15.6	0,5,4294	yes	missense	ZNF592	NM_014630.2	81	0,11,6491	TT,TC,CC		0.0582,0.1362,0.0846	benign	1079/1268	85343171	11,12993	2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85343171C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3236C>T	15.37:g.85343171C>T	ENSP00000452877:p.Thr1079Met					ZNF592_ENST00000560079.2_Missense_Mutation_p.T1079M	p.T1079M			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	3258	+			1079					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3236C>T	CCDS32317.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.439	1.087512	0.20390	0.001362	5.82E-4	ENSG00000166716	ENST00000299927	T	0.00614	6.21	5.64	5.64	0.86602	.	0.216457	0.46758	D	0.000270	T	0.00468	0.0015	N	0.04508	-0.205	0.33654	D	0.608867	B	0.11235	0.004	B	0.13407	0.009	T	0.57236	-0.7846	10	0.34782	T	0.22	-9.6088	10.6094	0.45412	0.0:0.9128:0.0:0.0872	.	1079	Q92610	ZN592_HUMAN	M	1079	ENSP00000299927:T1079M	ENSP00000299927:T1079M	T	+	2	0	ZNF592	83144175	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.800000	0.69108	2.660000	0.90430	0.563000	0.77884	ACG		0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		29	43	0	0	0	1	0	29	43				
CACNA1G	8913	broad.mit.edu	37	17	48680423	48680423	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48680423C>T	ENST00000359106.5	+	21	4032	c.4032C>T	c.(4030-4032)agC>agT	p.S1344S	CACNA1G_ENST00000514079.1_Silent_p.S1344S|CACNA1G_ENST00000513964.1_Silent_p.S1344S|CACNA1G_ENST00000507609.1_Silent_p.S1344S|CACNA1G_ENST00000354983.4_Silent_p.S1321S|CACNA1G_ENST00000513689.2_Silent_p.S1344S|CACNA1G_ENST00000429973.2_Silent_p.S1344S|CACNA1G_ENST00000360761.4_Silent_p.S1321S|CACNA1G_ENST00000416767.4_Silent_p.S1344S|CACNA1G_ENST00000507336.1_Silent_p.S1344S|CACNA1G_ENST00000358244.5_Silent_p.S1321S|CACNA1G_ENST00000512389.1_Silent_p.S1344S|CACNA1G_ENST00000510366.1_Silent_p.S1344S|CACNA1G_ENST00000352832.5_Silent_p.S1321S|CACNA1G_ENST00000514181.1_Silent_p.S1344S|CACNA1G_ENST00000503485.1_Silent_p.S1344S|CACNA1G_ENST00000442258.2_Silent_p.S1321S|CACNA1G_ENST00000507896.1_Silent_p.S1344S|CACNA1G_ENST00000505165.1_Silent_p.S1344S|CACNA1G_ENST00000502264.1_Silent_p.S1321S|CACNA1G_ENST00000514717.1_Silent_p.S1321S|CACNA1G_ENST00000507510.2_Silent_p.S1344S|CACNA1G_ENST00000515165.1_Silent_p.S1344S|CACNA1G_ENST00000510115.1_Silent_p.S1321S|CACNA1G_ENST00000515765.1_Silent_p.S1344S|CACNA1G_ENST00000515411.1_Silent_p.S1344S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1344					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCTGCGGAGCAGTTGGAACG	0.647																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3961-3963)agC>agT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						155.0	173.0	167.0					17																	48680423		2198	4280	6478	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48680423C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4032C>T	17.37:g.48680423C>T						CACNA1G_ENST00000513689.2_Silent_p.S1344S|CACNA1G_ENST00000507510.2_Silent_p.S1344S|CACNA1G_ENST00000512389.1_Silent_p.S1344S|CACNA1G_ENST00000514079.1_Silent_p.S1344S|CACNA1G_ENST00000510115.1_Silent_p.S1321S|CACNA1G_ENST00000510366.1_Silent_p.S1344S|CACNA1G_ENST00000515411.1_Silent_p.S1344S|CACNA1G_ENST00000515765.1_Silent_p.S1344S|CACNA1G_ENST00000507896.1_Silent_p.S1344S|CACNA1G_ENST00000503485.1_Silent_p.S1344S|CACNA1G_ENST00000358244.5_Silent_p.S1321S|CACNA1G_ENST00000513964.1_Silent_p.S1344S|CACNA1G_ENST00000505165.1_Silent_p.S1344S|CACNA1G_ENST00000515165.1_Silent_p.S1344S|CACNA1G_ENST00000442258.2_Silent_p.S1321S|CACNA1G_ENST00000360761.4_Silent_p.S1321S|CACNA1G_ENST00000502264.1_Silent_p.S1321S|CACNA1G_ENST00000514181.1_Silent_p.S1344S|CACNA1G_ENST00000507336.1_Silent_p.S1344S|CACNA1G_ENST00000507609.1_Silent_p.S1344S|CACNA1G_ENST00000359106.5_Silent_p.S1344S|CACNA1G_ENST00000514717.1_Silent_p.S1321S|CACNA1G_ENST00000429973.2_Silent_p.S1344S|CACNA1G_ENST00000354983.4_Silent_p.S1321S|CACNA1G_ENST00000416767.4_Silent_p.S1344S	p.S1321S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		20	4335	+	Breast(11;6.7e-17)		1344					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3963C>T	CCDS45730.1																																																																																				0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		24	55	0	0	0	1	0	24	55				
POTEH	23784	broad.mit.edu	37	22	16287624	16287624	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:16287624C>T	ENST00000343518.6	-	1	313	c.262G>A	c.(262-264)Gat>Aat	p.D88N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	88										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.607																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(262-264)Gat>Aat		POTE ankyrin domain family, member H							57.0	67.0	64.0					22																	16287624		1820	3476	5296	SO:0001583	missense	23784							g.chr22:16287624C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.262G>A	22.37:g.16287624C>T	ENSP00000340610:p.Asp88Asn						p.D88N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	313	-			88					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.262G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.456809	0.26161	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.36340	1.26	.	.	.	.	.	.	.	.	T	0.31136	0.0787	L	0.40543	1.245	0.09310	N	1	D	0.53312	0.959	P	0.47705	0.555	T	0.14811	-1.0459	7	0.37606	T	0.19	.	.	.	.	.	88	Q6S545	POTEH_HUMAN	N	88	ENSP00000340610:D88N	ENSP00000340610:D88N	D	-	1	0	POTEH	14667624	0.004000	0.15560	0.011000	0.14972	0.011000	0.07611	0.240000	0.18042	0.149000	0.19098	0.152000	0.16155	GAT		0.607	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	301	0	0	0	1	0	8	301				
BCL11B	64919	broad.mit.edu	37	14	99641123	99641123	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99641123C>T	ENST00000357195.3	-	4	2059	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T	BCL11B_ENST00000345514.2_Missense_Mutation_p.A613T|BCL11B_ENST00000443726.2_Missense_Mutation_p.A490T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	684					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCTTGGCGGCGCTGTTGAGC	0.741			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1837-1839)Gcc>Acc		B-cell CLL/lymphoma 11B (zinc finger protein)							17.0	15.0	15.0					14																	99641123		2171	4236	6407	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641123C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2050G>A	14.37:g.99641123C>T	ENSP00000349723:p.Ala684Thr					BCL11B_ENST00000357195.3_Missense_Mutation_p.A684T|BCL11B_ENST00000443726.2_Missense_Mutation_p.A490T	p.A613T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2103	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	684			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1837G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	c	1.220	-0.627240	0.03610	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.10763	2.84;2.85;2.84	3.73	1.36	0.22044	.	1.346980	0.05027	N	0.473911	T	0.04588	0.0125	N	0.02011	-0.69	0.30926	N	0.727498	B;B	0.27559	0.017;0.181	B;B	0.21360	0.021;0.034	T	0.36335	-0.9752	10	0.21014	T	0.42	-7.6932	10.3192	0.43756	0.6748:0.3252:0.0:0.0	.	613;684	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	T	684;613;490	ENSP00000349723:A684T;ENSP00000280435:A613T;ENSP00000387419:A490T	ENSP00000280435:A613T	A	-	1	0	BCL11B	98710876	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.027000	0.49697	0.689000	0.31550	-0.217000	0.12591	GCC		0.741	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		9	20	0	0	0	1	0	9	20				
CEP57	9702	broad.mit.edu	37	11	95532505	95532505	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95532505G>A	ENST00000325542.5	+	2	393	c.155G>A	c.(154-156)cGc>cAc	p.R52H	CEP57_ENST00000541150.1_Missense_Mutation_p.R43H|CEP57_ENST00000538658.1_Missense_Mutation_p.R52H|CEP57_ENST00000325486.5_Missense_Mutation_p.R52H|CEP57_ENST00000537677.1_Missense_Mutation_p.R25H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	52					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATCTACGACGCTCCCCAAGT	0.418									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(154-156)cGc>cAc		centrosomal protein 57kDa							140.0	131.0	134.0					11																	95532505		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95532505G>A	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.155G>A	11.37:g.95532505G>A	ENSP00000317902:p.Arg52His					CEP57_ENST00000325486.5_Missense_Mutation_p.R52H|CEP57_ENST00000538658.1_Missense_Mutation_p.R52H|CEP57_ENST00000537677.1_Missense_Mutation_p.R25H|CEP57_ENST00000541150.1_Missense_Mutation_p.R43H	p.R52H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			2	393	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	52					A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.155G>A	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630233	0.46944	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T	0.46819	1.43;1.47;1.51;0.89;0.86;1.43	4.93	4.93	0.64822	.	0.086607	0.49916	D	0.000129	T	0.36441	0.0967	L	0.47716	1.5	0.41043	D	0.985241	P;P;P;P	0.46220	0.874;0.642;0.801;0.584	B;B;B;B	0.33521	0.165;0.087;0.08;0.087	T	0.44922	-0.9296	10	0.87932	D	0	-7.1215	11.6244	0.51136	0.0828:0.0:0.9172:0.0	.	43;52;52;52	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	H	25;52;52;43;25;52;43	ENSP00000441392:R25H;ENSP00000317902:R52H;ENSP00000317487:R52H;ENSP00000445821:R25H;ENSP00000445706:R52H;ENSP00000443436:R43H	ENSP00000317487:R52H	R	+	2	0	CEP57	95172153	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.219000	0.58561	2.424000	0.82194	0.655000	0.94253	CGC		0.418	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		9	117	0	0	0	1	0	9	117				
TAS2R5	54429	broad.mit.edu	37	7	141490986	141490986	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141490986G>A	ENST00000247883.4	+	1	970	c.825G>A	c.(823-825)ggG>ggA	p.G275G		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	275					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TGATCATGGGGATTCCTAGGG	0.498																																						ENST00000247883.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(823-825)ggG>ggA		taste receptor, type 2, member 5							131.0	132.0	132.0					7																	141490986		2203	4300	6503	SO:0001819	synonymous_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490986G>A	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.825G>A	7.37:g.141490986G>A							p.G275G	NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN			1	970	+	Melanoma(164;0.0171)		275					Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	c.825G>A	CCDS5869.1																																																																																				0.498	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			26	64	0	0	0	1	0	26	64				
TTN	7273	broad.mit.edu	37	2	179486290	179486290	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179486290C>T	ENST00000591111.1	-	195	40562	c.40338G>A	c.(40336-40338)ctG>ctA	p.L13446L	TTN_ENST00000342992.6_Silent_p.L12519L|TTN_ENST00000359218.5_Silent_p.L6147L|TTN_ENST00000460472.2_Silent_p.L6022L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.L15087L|TTN_ENST00000342175.6_Silent_p.L6214L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13446	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAATGACCAGGATTCTCT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45259-45261)ctG>ctA		titin							136.0	135.0	135.0					2																	179486290		2011	4190	6201	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486290C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40338G>A	2.37:g.179486290C>T						TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.L6214L|TTN_ENST00000591111.1_Silent_p.L13446L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.L6022L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L12519L|TTN_ENST00000359218.5_Silent_p.L6147L|TTN-AS1_ENST00000585451.1_RNA	p.L15087L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45485	-			13446			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.45261G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	20	0	0	0	1	0	7	20				
TXNDC15	79770	broad.mit.edu	37	5	134223831	134223831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134223831G>T	ENST00000358387.4	+	2	1175	c.550G>T	c.(550-552)Gga>Tga	p.G184*	TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.G161*	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	184	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAACATTACAGGATTAGAAAA	0.368																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(550-552)Gga>Tga		thioredoxin domain containing 15							35.0	40.0	38.0					5																	134223831		2202	4299	6501	SO:0001587	stop_gained	79770				cell redox homeostasis	integral to membrane		g.chr5:134223831G>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.550G>T	5.37:g.134223831G>T	ENSP00000351157:p.Gly184*					TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.G161*	p.G184*	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1175	+			184			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Nonsense_Mutation	SNP	ENST00000358387.4	37	c.550G>T	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.562388|2.562388	0.45694|0.45694	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000508810;ENST00000546290|ENST00000508779	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76292	.|0.3967	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74657	.|-0.3592	.|3	0.66056|.	D|.	0.02|.	0.1561|0.1561	19.2386|19.2386	0.93873|0.93873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	168;184;167;161|167	.|.	ENSP00000351157:G184X|.	G|Q	+|+	1|3	0|2	TXNDC15|TXNDC15	134251730|134251730	1.000000|1.000000	0.71417|0.71417	0.128000|0.128000	0.21923|0.21923	0.043000|0.043000	0.13939|0.13939	8.743000|8.743000	0.91592|0.91592	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.368	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		9	20	1	0	0.00448238	1	0.00453641	9	20				
TAF5L	27097	broad.mit.edu	37	1	229730823	229730823	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229730823C>T	ENST00000366676.1	-	4	990	c.991G>A	c.(991-993)Gca>Aca	p.A331T	TAF5L_ENST00000258281.2_Missense_Mutation_p.A331T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	331					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TCCGTGCCTGCATTATCATCC	0.517																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(991-993)Gca>Aca		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							75.0	70.0	72.0					1																	229730823		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730823C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.991G>A	1.37:g.229730823C>T	ENSP00000355636:p.Ala331Thr					TAF5L_ENST00000366676.1_Missense_Mutation_p.A331T	p.A331T	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1156	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	331					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.991G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	2.302	-0.359943	0.05138	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.58506	0.33;0.33	5.8	1.81	0.25067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.488402	0.23991	N	0.042568	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.02654	T	1	0.3791	7.4554	0.27264	0.1187:0.6916:0.0:0.1897	.	331	O75529	TAF5L_HUMAN	T	331	ENSP00000355636:A331T;ENSP00000258281:A331T	ENSP00000258281:A331T	A	-	1	0	TAF5L	227797446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.917000	0.28665	0.083000	0.17047	-0.136000	0.14681	GCA		0.517	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		15	35	0	0	0	1	0	15	35				
PATZ1	23598	broad.mit.edu	37	22	31731813	31731813	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31731813G>A	ENST00000266269.5	-	3	2001	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PATZ1_ENST00000351933.4_Missense_Mutation_p.R458C|PATZ1_ENST00000405309.3_Missense_Mutation_p.R458C|RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	458					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGGTGGGAGCGCAGACGGTCT	0.562																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1372-1374)Cgc>Tgc		POZ (BTB) and AT hook containing zinc finger 1							81.0	69.0	73.0					22																	31731813		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731813G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1372C>T	22.37:g.31731813G>A	ENSP00000266269:p.Arg458Cys					RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R458C|PATZ1_ENST00000351933.4_Missense_Mutation_p.R458C	p.R458C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			3	2001	-			458					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1372C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572898	0.86542	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.12147	2.74;2.71;2.77	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.994	T	0.19353	-1.0308	10	0.51188	T	0.08	-22.4309	18.0252	0.89266	0.0:0.0:1.0:0.0	.	458;458;458	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	C	458	ENSP00000266269:R458C;ENSP00000384173:R458C;ENSP00000337520:R458C	ENSP00000266269:R458C	R	-	1	0	PATZ1	30061813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.634000	0.74290	2.504000	0.84457	0.563000	0.77884	CGC		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		18	26	0	0	0	1	0	18	26				
BAG6	7917	broad.mit.edu	37	6	31608917	31608917	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31608917C>A	ENST00000375964.6	-	19	2974	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	BAG6_ENST00000362049.6_Missense_Mutation_p.Q881H|BAG6_ENST00000439687.2_Missense_Mutation_p.Q755H|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Missense_Mutation_p.Q881H|BAG6_ENST00000404765.2_Missense_Mutation_p.Q917H|BAG6_ENST00000375976.4_Missense_Mutation_p.Q881H	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	887					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCTCCATCTGCTGTCCCCCCA	0.517																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2749-2751)caG>caT		BCL2-associated athanogene 6							131.0	142.0	138.0					6																	31608917		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608917C>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2661G>T	6.37:g.31608917C>A	ENSP00000365131:p.Gln887His					BAG6_ENST00000375976.4_Missense_Mutation_p.Q881H|BAG6_ENST00000362049.6_Missense_Mutation_p.Q881H|BAG6_ENST00000211379.5_Missense_Mutation_p.Q881H|BAG6_ENST00000439687.2_Missense_Mutation_p.Q755H|BAG6_ENST00000375964.6_Missense_Mutation_p.Q887H	p.Q917H			P46379	BAG6_HUMAN			20	3040	-			887					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.2751G>T	CCDS47403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.752201|2.752201	0.49362|0.49362	.|.	.|.	ENSG00000204463|ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049|ENST00000441793	T;T;T;T;T;T|.	0.50548|.	1.4;1.4;1.4;1.41;0.74;1.4|.	5.51|5.51	3.74|3.74	0.42951|0.42951	.|.	0.222459|.	0.46145|.	D|.	0.000316|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.22421|0.22421	0.69|0.69	0.32133|0.32133	N|N	0.5865|0.5865	D;D;D;D|.	0.67145|.	0.984;0.994;0.993;0.996|.	P;P;P;D|.	0.67382|.	0.623;0.86;0.903;0.951|.	T|T	0.11251|0.11251	-1.0595|-1.0595	10|5	0.56958|.	D|.	0.05|.	.|.	7.1028|7.1028	0.25346|0.25346	0.0:0.7038:0.141:0.1552|0.0:0.7038:0.141:0.1552	.|.	755;881;887;881|.	E7EMZ4;F8VXY4;P46379;P46379-2|.	.;.;BAG6_HUMAN;.|.	H|I	881;887;881;917;755;881|30	ENSP00000365143:Q881H;ENSP00000365131:Q887H;ENSP00000211379:Q881H;ENSP00000384494:Q917H;ENSP00000402856:Q755H;ENSP00000354875:Q881H|.	ENSP00000211379:Q881H|.	Q|S	-|-	3|2	2|0	BAG6|BAG6	31716896|31716896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	0.580000|0.580000	0.23803|0.23803	0.706000|0.706000	0.31912|0.31912	-0.480000|-0.480000	0.04831|0.04831	CAG|AGC		0.517	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		33	45	1	0	3.86903e-22	1	4.30158e-22	33	45				
HOOK2	29911	broad.mit.edu	37	19	12883026	12883026	+	Missense_Mutation	SNP	G	G	A	rs145148176	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12883026G>A	ENST00000397668.3	-	7	570	c.497C>T	c.(496-498)aCg>aTg	p.T166M	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.T166M	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	166	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTTGCCATACGTCTCTGGTGA	0.507													g|||	16	0.00319489	0.0113	0.0	5008	,	,		20651	0.0		0.0	False		,,,				2504	0.001					ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(496-498)aCg>aTg		hook microtubule-tethering protein 2			MET/THR,MET/THR	25,4039		0,25,2007	154.0	151.0	152.0		497,497	0.4	0.0	19	dbSNP_134	152	1,8383		0,1,4191	yes	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	81,81	0,26,6198	AA,AG,GG		0.0119,0.6152,0.2089	possibly-damaging,possibly-damaging	166/718,166/720	12883026	26,12422	2032	4192	6224	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883026G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.497C>T	19.37:g.12883026G>A	ENSP00000380785:p.Thr166Met					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.T166M	p.T166M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			7	667	-			166			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.497C>T	CCDS42508.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	1	0.0017482517482517483	0	0.0	g	11.70	1.717704	0.30413	0.006152	1.19E-4	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18338	2.22;2.22	4.24	0.424	0.16468	.	0.437579	0.21132	N	0.079621	T	0.08447	0.0210	L	0.45581	1.43	0.09310	N	1	P;P	0.36412	0.497;0.552	B;B	0.31390	0.05;0.129	T	0.13098	-1.0522	10	0.44086	T	0.13	-1.3604	7.401	0.26965	0.0:0.1569:0.5039:0.3391	.	166;166	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	166	ENSP00000380785:T166M;ENSP00000264827:T166M	ENSP00000264827:T166M	T	-	2	0	HOOK2	12744026	0.619000	0.27059	0.004000	0.12327	0.843000	0.47879	1.987000	0.40687	-0.030000	0.13804	0.552000	0.68991	ACG		0.507	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		27	38	0	0	0	1	0	27	38				
ERF	2077	broad.mit.edu	37	19	42753014	42753014	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42753014G>A	ENST00000222329.4	-	4	1407	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.A342V|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	417					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGCGGTGGGGCTAGCGCCCC	0.677																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1249-1251)gCc>gTc		Ets2 repressor factor							38.0	47.0	44.0					19																	42753014		2143	4188	6331	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753014G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1250C>T	19.37:g.42753014G>A	ENSP00000222329:p.Ala417Val					ERF_ENST00000440177.2_Missense_Mutation_p.A342V|AC006486.9_ENST00000594664.1_Intron	p.A417V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1407	-		Prostate(69;0.00682)	417					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1250C>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	3.426	-0.117119	0.06838	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.20463	3.11;2.07	4.25	3.22	0.36961	.	3.737890	0.00589	N	0.000357	T	0.14399	0.0348	N	0.14661	0.345	0.18873	N	0.999985	B	0.33494	0.414	B	0.23275	0.045	T	0.27571	-1.0070	10	0.34782	T	0.22	.	11.0287	0.47759	0.093:0.0:0.907:0.0	.	417	P50548	ERF_HUMAN	V	417;342	ENSP00000222329:A417V;ENSP00000388173:A342V	ENSP00000222329:A417V	A	-	2	0	ERF	47444854	0.300000	0.24435	0.488000	0.27440	0.087000	0.18053	0.778000	0.26732	1.143000	0.42306	0.655000	0.94253	GCC		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		41	49	0	0	0	1	0	41	49				
SYNPO	11346	broad.mit.edu	37	5	150028074	150028074	+	Silent	SNP	G	G	A	rs555455244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150028074G>A	ENST00000394243.1	+	3	1343	c.969G>A	c.(967-969)acG>acA	p.T323T	SYNPO_ENST00000307662.4_Silent_p.T79T|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Silent_p.T79T|SYNPO_ENST00000522122.1_Silent_p.T323T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	323					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCCACGCTCACCACAC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16429	0.0		0.0	False		,,,				2504	0.0					ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(967-969)acG>acA		synaptopodin							178.0	153.0	161.0					5																	150028074		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028074G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.969G>A	5.37:g.150028074G>A						SYNPO_ENST00000522122.1_Silent_p.T323T|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Silent_p.T79T|SYNPO_ENST00000519664.1_Silent_p.T79T	p.T323T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1343	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	323					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.969G>A	CCDS54937.1																																																																																				0.592	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		7	78	0	0	0	1	0	7	78				
ZNF214	7761	broad.mit.edu	37	11	7021457	7021457	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7021457T>C	ENST00000278314.4	-	3	1772	c.1457A>G	c.(1456-1458)cAc>cGc	p.H486R	ZNF214_ENST00000536068.1_Missense_Mutation_p.H486R|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTGATGAGTGTGAAGCTTTGA	0.453																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1456-1458)cAc>cGc		zinc finger protein 214							89.0	94.0	92.0					11																	7021457		2200	4295	6495	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021457T>C	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1457A>G	11.37:g.7021457T>C	ENSP00000278314:p.His486Arg					ZNF214_ENST00000536068.1_Missense_Mutation_p.H486R	p.H486R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1772	-			486					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1457A>G	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	T	0.552	-0.849078	0.02651	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.30182	1.54;1.54	4.05	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.302543	0.24120	N	0.041369	T	0.07638	0.0192	N	0.00864	-1.135	0.21355	N	0.999718	B	0.32604	0.377	B	0.27262	0.078	T	0.31138	-0.9954	10	0.22706	T	0.39	.	7.3238	0.26542	0.542:0.0:0.0:0.458	.	486	Q9UL59	ZN214_HUMAN	R	486	ENSP00000278314:H486R;ENSP00000445373:H486R	ENSP00000278314:H486R	H	-	2	0	ZNF214	6978033	0.000000	0.05858	0.983000	0.44433	0.996000	0.88848	-0.426000	0.07008	0.279000	0.22186	0.459000	0.35465	CAC		0.453	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			45	44	0	0	0	1	0	45	44				
DCAF15	90379	broad.mit.edu	37	19	14070278	14070278	+	Silent	SNP	G	G	A	rs371077155		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14070278G>A	ENST00000254337.6	+	7	1227	c.1206G>A	c.(1204-1206)acG>acA	p.T402T		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	402					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GAGAGGGGACGGAGCCGGAGG	0.697																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1204-1206)acG>acA		DDB1 and CUL4 associated factor 15		G		1,4393		0,1,2196	27.0	34.0	32.0		1206	-8.9	0.2	19		32	1,8569		0,1,4284	no	coding-synonymous	DCAF15	NM_138353.2		0,2,6480	AA,AG,GG		0.0117,0.0228,0.0154		402/601	14070278	2,12962	2197	4285	6482	SO:0001819	synonymous_variant	90379							g.chr19:14070278G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1206G>A	19.37:g.14070278G>A							p.T402T	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	1227	+			402					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1206G>A	CCDS32926.1																																																																																				0.697	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		12	25	0	0	0	1	0	12	25				
HTR7	3363	broad.mit.edu	37	10	92509039	92509039	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:92509039G>A	ENST00000336152.3	-	2	878	c.852C>T	c.(850-852)gaC>gaT	p.D284D	HTR7_ENST00000371719.2_Silent_p.D284D|HTR7_ENST00000277874.6_Silent_p.D284D|HTR7_ENST00000371721.3_Silent_p.D284D	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	284					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CGATGACGCTGTCTGGCTCCA	0.502																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(850-852)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						60.0	53.0	55.0					10																	92509039		2203	4300	6503	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509039G>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.852C>T	10.37:g.92509039G>A						HTR7_ENST00000277874.6_Silent_p.D284D|HTR7_ENST00000336152.3_Silent_p.D284D|HTR7_ENST00000371719.2_Silent_p.D284D	p.D284D			P34969	5HT7R_HUMAN			2	1094	-			284					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.852C>T	CCDS7408.1																																																																																				0.502	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		14	11	0	0	0	1	0	14	11				
ZBTB4	57659	broad.mit.edu	37	17	7367125	7367125	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7367125C>T	ENST00000311403.4	-	4	1515	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	ZBTB4_ENST00000380599.4_Silent_p.P392P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	392					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAAGGAGGCCCGGGCTAATGC	0.577																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1174-1176)ccG>ccA		zinc finger and BTB domain containing 4							106.0	112.0	110.0					17																	7367125		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7367125C>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1176G>A	17.37:g.7367125C>T						ZBTB4_ENST00000380599.4_Silent_p.P392P	p.P392P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1515	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	392					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.1176G>A	CCDS11107.1																																																																																				0.577	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		33	39	0	0	0	1	0	33	39				
DOCK9	23348	broad.mit.edu	37	13	99549847	99549847	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99549847G>A	ENST00000376460.1	-	15	1684	c.1604C>T	c.(1603-1605)gCa>gTa	p.A535V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A535V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A547V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A536V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	536					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTTCCAGATGCATCCTTAAA	0.358																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1603-1605)gCa>gTa		dedicator of cytokinesis 9							180.0	174.0	176.0					13																	99549847		1864	4098	5962	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99549847G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1604C>T	13.37:g.99549847G>A	ENSP00000365643:p.Ala535Val					DOCK9_ENST00000339416.2_Missense_Mutation_p.A536V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A547V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A535V	p.A535V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			15	1684	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		536					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1604C>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428866	0.43122	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.25	4.41	0.53225	.	0.378338	0.29431	N	0.012171	T	0.06826	0.0174	L	0.54323	1.7	0.40181	D	0.977298	B;B;B;B;B	0.14805	0.002;0.011;0.001;0.004;0.001	B;B;B;B;B	0.14023	0.005;0.01;0.004;0.008;0.005	T	0.19418	-1.0306	9	.	.	.	.	13.8912	0.63740	0.0734:0.0:0.9266:0.0	.	536;535;535;535;536	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	V	535;536;536;536;535;536;547;535	ENSP00000365643:A535V;ENSP00000341086:A536V;ENSP00000401958:A547V;ENSP00000406883:A535V	.	A	-	2	0	DOCK9	98347848	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	6.312000	0.72840	1.233000	0.43693	0.655000	0.94253	GCA		0.358	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		31	61	0	0	0	1	0	31	61				
FHOD3	80206	broad.mit.edu	37	18	34156465	34156465	+	Missense_Mutation	SNP	G	G	A	rs370403836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34156465G>A	ENST00000359247.4	+	6	563	c.563G>A	c.(562-564)cGc>cAc	p.R188H	FHOD3_ENST00000445677.1_Missense_Mutation_p.R188H|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188H|FHOD3_ENST00000257209.4_Missense_Mutation_p.R188H	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTAATAAACCGCAATGAAACC	0.373																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(562-564)cGc>cAc		formin homology 2 domain containing 3		A	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	148.0	130.0	136.0		563	5.7	1.0	18		136	0,8600		0,0,4300	no	missense	FHOD3	NM_025135.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	188/1440	34156465	1,13005	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34156465G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.563G>A	18.37:g.34156465G>A	ENSP00000352186:p.Arg188His					FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188H|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188H|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188H	p.R188H	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			6	685	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	188			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.563G>A		.	.	.	.	.	.	.	.	.	.	A	9.170	1.020880	0.19433	2.27E-4	0.0	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.13657	2.57;2.57;2.57	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.100549	0.64402	N	0.000002	T	0.01976	0.0062	N	0.00039	-2.505	0.21325	N	0.999728	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.38112	-0.9676	10	0.02654	T	1	.	10.0895	0.42439	0.9208:0.0:0.0792:0.0	.	188;188;188	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	H	188	ENSP00000257209:R188H;ENSP00000352186:R188H;ENSP00000411430:R188H	ENSP00000257209:R188H	R	+	2	0	FHOD3	32410463	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.074000	0.76791	0.996000	0.38943	-0.254000	0.11334	CGC		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		19	31	0	0	0	1	0	19	31				
EGF	1950	broad.mit.edu	37	4	110897213	110897213	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110897213T>A	ENST00000265171.5	+	13	2320	c.1875T>A	c.(1873-1875)agT>agA	p.S625R	EGF_ENST00000509793.1_Missense_Mutation_p.S583R|EGF_ENST00000503392.1_Missense_Mutation_p.S625R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	625					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GAATTGAAAGTTCTTCCCTCC	0.393																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1873-1875)agT>agA		epidermal growth factor	Sulindac(DB00605)						187.0	200.0	195.0					4																	110897213		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110897213T>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1875T>A	4.37:g.110897213T>A	ENSP00000265171:p.Ser625Arg					EGF_ENST00000503392.1_Missense_Mutation_p.S625R|EGF_ENST00000509793.1_Missense_Mutation_p.S583R	p.S625R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	13	2320	+		Hepatocellular(203;0.0893)	625					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1875T>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086432	0.55861	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96200	-3.94;-3.94;-3.94	5.66	-2.47	0.06442	Six-bladed beta-propeller, TolB-like (1);	0.118294	0.85682	D	0.000000	D	0.90106	0.6909	N	0.17278	0.47	0.43583	D	0.995926	P;B;P	0.50369	0.776;0.415;0.934	P;B;P	0.51701	0.461;0.142;0.677	D	0.85554	0.1223	10	0.02654	T	1	.	13.4059	0.60913	0.0:0.5164:0.0:0.4836	.	625;583;625	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	R	583;625;625	ENSP00000424316:S583R;ENSP00000265171:S625R;ENSP00000421384:S625R	ENSP00000265171:S625R	S	+	3	2	EGF	111116662	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	0.588000	0.23924	-0.248000	0.09583	0.533000	0.62120	AGT		0.393	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			64	55	0	0	0	1	0	64	55				
EEF1DP3	196549	broad.mit.edu	37	13	32527390	32527390	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:32527390G>T	ENST00000428783.1	+	0	1090							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GGAAGCTGCAGATTCAGCGTG	0.612																																						ENST00000428783.1																			0																																																			0							g.chr13:32527390G>T			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527390G>T														0	1090	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.612	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		3	18	1	0	0.115264	1	0.115739	3	18				
RASGRF1	5923	broad.mit.edu	37	15	79356790	79356790	+	Missense_Mutation	SNP	C	C	T	rs144681233		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79356790C>T	ENST00000419573.3	-	2	629	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E119K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	119	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCACCCATTCGTCACAATCT	0.527																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(355-357)Gaa>Aaa		Ras protein-specific guanine nucleotide-releasing factor 1							308.0	244.0	266.0					15																	79356790		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79356790C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.355G>A	15.37:g.79356790C>T	ENSP00000405963:p.Glu119Lys					RASGRF1_ENST00000558480.2_Missense_Mutation_p.E119K|RASGRF1_ENST00000560334.1_5'UTR	p.E119K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			2	629	-			119			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.355G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548147	0.86022	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.14144	2.53	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145187	0.49916	D	0.000133	T	0.36690	0.0976	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;D;D;D	0.68192	0.874;0.936;0.956;0.926	T	0.06625	-1.0816	10	0.51188	T	0.08	.	15.7119	0.77635	0.0:1.0:0.0:0.0	.	119;119;119;119	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	119	ENSP00000405963:E119K	ENSP00000378224:E119K	E	-	1	0	RASGRF1	77143845	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.012000	0.76366	2.564000	0.86499	0.561000	0.74099	GAA		0.527	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		36	69	0	0	0	1	0	36	69				
PRRC2B	84726	broad.mit.edu	37	9	134350749	134350749	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134350749G>A	ENST00000357304.4	+	15	3288	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1078							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACTTTTCGTGGTCGGCCTGCT	0.637																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3232-3234)gGt>gAt		proline-rich coiled-coil 2B							16.0	18.0	18.0					9																	134350749		1855	4091	5946	SO:0001583	missense	84726						protein binding	g.chr9:134350749G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3233G>A	9.37:g.134350749G>A	ENSP00000349856:p.Gly1078Asp					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.G1078D	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3288	+			1078					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3233G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744932	0.69418	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.26810	1.71	6.17	6.17	0.99709	.	.	.	.	.	T	0.48059	0.1479	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.76575	0.988;0.846	T	0.29397	-1.0013	8	.	.	.	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	374;1078	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	D	1078;374	ENSP00000349856:G1078D	.	G	+	2	0	PRRC2B	133340570	1.000000	0.71417	0.879000	0.34478	0.683000	0.39861	7.636000	0.83301	2.941000	0.99782	0.655000	0.94253	GGT		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	14	0	0	0	1	0	7	14				
NUDT16L1	84309	broad.mit.edu	37	16	4743810	4743810	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4743810G>A	ENST00000304301.6	+	1	116	c.83G>A	c.(82-84)tGc>tAc	p.C28Y	NUDT16L1_ENST00000586252.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000405142.1_Missense_Mutation_p.C28Y	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	28						cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCCACTCGTGCCACGCCATG	0.706																																						ENST00000405142.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(82-84)tGc>tAc		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1							18.0	17.0	18.0					16																	4743810		2162	4273	6435	SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4743810G>A	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.83G>A	16.37:g.4743810G>A	ENSP00000306670:p.Cys28Tyr					NUDT16L1_ENST00000586536.1_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.C28Y|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.C28Y	p.C28Y			Q9BRJ7	SDOS_HUMAN			1	92	+			28					Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.83G>A	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723374	0.48728	.	.	ENSG00000168101	ENST00000304301;ENST00000405142	T;T	0.72615	-0.67;-0.67	4.9	3.95	0.45737	NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.64404	1.975	0.51012	D	0.999908	P;B	0.37466	0.596;0.02	B;B	0.33454	0.164;0.005	T	0.68606	-0.5364	10	0.87932	D	0	.	11.9069	0.52717	0.0859:0.0:0.9141:0.0	.	28;28	Q9BRJ7-2;Q9BRJ7	.;SDOS_HUMAN	Y	28	ENSP00000306670:C28Y;ENSP00000458144:C28Y	ENSP00000306670:C28Y	C	+	2	0	NUDT16L1	4683811	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	4.081000	0.57627	1.078000	0.41014	-0.136000	0.14681	TGC		0.706	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		7	4	0	0	0	1	0	7	4				
WDR5B	54554	broad.mit.edu	37	3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T	rs199965922		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(937-939)Gca>Aca		WD repeat domain 5B							139.0	127.0	131.0					3																	122133439		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122133439C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.937G>A	3.37:g.122133439C>T	ENSP00000330381:p.Ala313Thr						p.A313T	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1443	-			313					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.937G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498295	0.85069	.	.	ENSG00000196981	ENST00000330689	T	0.70282	-0.47	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.92604	3.325	0.80722	D	1	D	0.67145	0.996	P	0.53649	0.731	D	0.88285	0.2939	10	0.87932	D	0	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	313	Q86VZ2	WDR5B_HUMAN	T	313	ENSP00000330381:A313T	ENSP00000330381:A313T	A	-	1	0	WDR5B	123616129	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.838000	0.75359	2.644000	0.89710	0.561000	0.74099	GCA		0.383	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		29	42	0	0	0	1	0	29	42				
SPAM1	6677	broad.mit.edu	37	7	123594143	123594143	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123594143G>A	ENST00000439500.1	+	4	1132	c.519G>A	c.(517-519)caG>caA	p.Q173Q	SPAM1_ENST00000340011.5_Silent_p.Q173Q|SPAM1_ENST00000402183.2_Silent_p.Q173Q|SPAM1_ENST00000223028.7_Silent_p.Q173Q|SPAM1_ENST00000460182.1_Silent_p.Q173Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	173					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTGGTTCAGCAACAAAATG	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(517-519)caG>caA		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						63.0	65.0	64.0					7																	123594143		2202	4299	6501	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594143G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.519G>A	7.37:g.123594143G>A						SPAM1_ENST00000223028.7_Silent_p.Q173Q|SPAM1_ENST00000439500.1_Silent_p.Q173Q|SPAM1_ENST00000460182.1_Silent_p.Q173Q|SPAM1_ENST00000402183.2_Silent_p.Q173Q	p.Q173Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	876	+			173					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.519G>A	CCDS5791.1																																																																																				0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			21	30	0	0	0	1	0	21	30				
PIK3C2B	5287	broad.mit.edu	37	1	204434416	204434416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204434416C>T	ENST00000367187.3	-	4	1521	c.965G>A	c.(964-966)gGc>gAc	p.G322D	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G322D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	322					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAACTCATGGCCATTGGCAAC	0.517																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(964-966)gGc>gAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							113.0	119.0	117.0					1																	204434416		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204434416C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.965G>A	1.37:g.204434416C>T	ENSP00000356155:p.Gly322Asp					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G322D	p.G322D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		4	1521	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		322					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.965G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578364	0.86645	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.63580	-0.03;-0.05	5.24	5.24	0.73138	.	0.538685	0.18916	N	0.127618	T	0.76898	0.4052	L	0.58101	1.795	0.45129	D	0.998143	P;D	0.89917	0.941;1.0	P;D	0.87578	0.794;0.998	T	0.78588	-0.2146	10	0.87932	D	0	.	16.6295	0.85029	0.0:1.0:0.0:0.0	.	322;322	F5GWN5;O00750	.;P3C2B_HUMAN	D	322;322;100;100	ENSP00000356155:G322D;ENSP00000400561:G322D	ENSP00000356152:G100D	G	-	2	0	PIK3C2B	202701039	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.056000	0.64287	2.445000	0.82738	0.655000	0.94253	GGC		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		19	45	0	0	0	1	0	19	45				
ANGEL2	90806	broad.mit.edu	37	1	213178540	213178540	+	Silent	SNP	C	C	T	rs148141428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:213178540C>T	ENST00000366962.3	-	5	1123	c.969G>A	c.(967-969)acG>acA	p.T323T	ANGEL2_ENST00000540642.1_Silent_p.T197T|ANGEL2_ENST00000535388.1_Silent_p.T154T|ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000544555.1_Silent_p.T154T|ANGEL2_ENST00000360506.2_Silent_p.T154T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTGCCAATTGCGTCAGCTTAA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21019	0.0		0.0	False		,,,				2504	0.0					ENST00000366962.3																			1	Substitution - coding silent(1)	p.T323T(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(967-969)acG>acA		angel homolog 2 (Drosophila)		C		4,4402	9.9+/-24.2	0,4,2199	130.0	114.0	119.0		969	2.4	1.0	1	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ANGEL2	NM_144567.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		323/545	213178540	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213178540C>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.969G>A	1.37:g.213178540C>T						ANGEL2_ENST00000535388.1_Silent_p.T154T|ANGEL2_ENST00000540642.1_Silent_p.T197T|ANGEL2_ENST00000360506.2_Silent_p.T154T|ANGEL2_ENST00000544555.1_Silent_p.T154T	p.T323T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	1123	-			323					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.969G>A	CCDS1512.1																																																																																				0.458	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		17	52	0	0	0	1	0	17	52				
ZNF789	285989	broad.mit.edu	37	7	99084395	99084395	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99084395C>A	ENST00000331410.5	+	5	832	c.562C>A	c.(562-564)Ctt>Att	p.L188I	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGATCTTTGCTTTTGGGGCA	0.418																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(562-564)Ctt>Att		zinc finger protein 789							106.0	102.0	103.0					7																	99084395		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084395C>A	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.562C>A	7.37:g.99084395C>A	ENSP00000331927:p.Leu188Ile					ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.L188I	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	832	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		188					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.562C>A	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803529	0.31869	.	.	ENSG00000198556	ENST00000331410	T	0.27104	1.69	3.34	-0.764	0.11027	.	.	.	.	.	T	0.29882	0.0747	M	0.86268	2.805	0.09310	N	0.999999	P	0.37061	0.58	B	0.34536	0.185	T	0.18650	-1.0330	9	0.72032	D	0.01	.	8.1154	0.30940	0.0:0.6282:0.0:0.3718	.	188	Q5FWF6	ZN789_HUMAN	I	188	ENSP00000331927:L188I	ENSP00000331927:L188I	L	+	1	0	ZNF789	98922331	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-1.666000	0.01963	-0.335000	0.08451	0.650000	0.86243	CTT		0.418	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		46	45	1	0	4.44401e-20	1	4.92268e-20	46	45				
ANKFN1	162282	broad.mit.edu	37	17	54559800	54559800	+	Silent	SNP	C	C	T	rs146193202	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54559800C>T	ENST00000318698.2	+	17	2219	c.2184C>T	c.(2182-2184)gaC>gaT	p.D728D	ANKFN1_ENST00000566473.2_Silent_p.D728D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	728										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTGCCTCAGACGACGTCTGTA	0.512													C|||	23	0.00459265	0.0	0.0	5008	,	,		17824	0.0099		0.001	False		,,,				2504	0.0123					ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2182-2184)gaC>gaT		ankyrin-repeat and fibronectin type III domain containing 1		C		1,4405	2.1+/-5.4	0,1,2202	166.0	150.0	155.0		2184	5.5	1.0	17	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	ANKFN1	NM_153228.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		728/764	54559800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54559800C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2184C>T	17.37:g.54559800C>T						ANKFN1_ENST00000318698.2_Silent_p.D728D	p.D728D			Q8N957	ANKF1_HUMAN			17	2184	+			728						Silent	SNP	ENST00000318698.2	37	c.2184C>T	CCDS32686.1																																																																																				0.512	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		43	64	0	0	0	1	0	43	64				
TSHZ2	128553	broad.mit.edu	37	20	51872367	51872367	+	Silent	SNP	C	C	T	rs138612067		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51872367C>T	ENST00000371497.5	+	2	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.H787H|TSHZ2_ENST00000603338.2_Silent_p.H787H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	790					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H790H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.H790H(1)	endometrium(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2368-2370)caC>caT		teashirt zinc finger homeobox 2		C	,	1,4405	2.1+/-5.4	0,1,2202	111.0	103.0	106.0		2361,2370	-3.5	1.0	20	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	787/1032,790/1035	51872367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872367C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2370C>T	20.37:g.51872367C>T						TSHZ2_ENST00000329613.6_Silent_p.H787H|TSHZ2_ENST00000603338.2_Silent_p.H787H	p.H790H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3257	+			790					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2370C>T	CCDS33490.1																																																																																				0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		22	32	0	0	0	1	0	22	32				
IQCH	64799	broad.mit.edu	37	15	67692587	67692587	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:67692587G>A	ENST00000335894.4	+	14	2107	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	IQCH_ENST00000358767.3_Missense_Mutation_p.V417M|IQCH_ENST00000546225.1_Missense_Mutation_p.V338M|IQCH_ENST00000360277.4_Missense_Mutation_p.V342M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	681										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTACAAATGGGTGCTAAAGGA	0.448																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2041-2043)Gtg>Atg		IQ motif containing H							134.0	127.0	129.0					15																	67692587		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67692587G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2041G>A	15.37:g.67692587G>A	ENSP00000336861:p.Val681Met					IQCH_ENST00000358767.3_Missense_Mutation_p.V417M|IQCH_ENST00000360277.4_Missense_Mutation_p.V342M|IQCH_ENST00000546225.1_Missense_Mutation_p.V338M	p.V681M	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	14	2107	+			681					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2041G>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	6.095	0.385714	0.11524	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.48201	0.85;0.85;0.82;0.85	5.43	-4.54	0.03452	.	1.023220	0.07791	N	0.954941	T	0.30759	0.0775	L	0.40543	1.245	0.23168	N	0.998188	B;B;B	0.32731	0.109;0.179;0.382	B;B;B	0.32624	0.075;0.103;0.149	T	0.24799	-1.0150	10	0.44086	T	0.13	-29.4627	2.1786	0.03868	0.2954:0.2789:0.3243:0.1015	.	338;342;681	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	M	417;338;681;342	ENSP00000351617:V417M;ENSP00000444118:V338M;ENSP00000336861:V681M;ENSP00000353419:V342M	ENSP00000336861:V681M	V	+	1	0	IQCH	65479641	0.124000	0.22315	0.002000	0.10522	0.013000	0.08279	0.381000	0.20619	-0.883000	0.03982	-0.165000	0.13383	GTG		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		11	46	0	0	0	1	0	11	46				
MAGEE2	139599	broad.mit.edu	37	X	75004665	75004665	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:75004665C>T	ENST00000373359.2	-	1	414	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	74										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCTGGACTGCTCGTCGATCA	0.562																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(220-222)gaG>gaA		melanoma antigen family E, 2							40.0	38.0	39.0					X																	75004665		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75004665C>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.222G>A	X.37:g.75004665C>T							p.E74E	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	414	-			74					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.222G>A	CCDS14431.1																																																																																				0.562	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		8	27	0	0	0	1	0	8	27				
SLC16A9	220963	broad.mit.edu	37	10	61412650	61412650	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61412650G>A	ENST00000395348.3	-	6	2046	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C	SLC16A9_ENST00000395347.1_Silent_p.C470C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	470					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAGCAGGACGCAGAAGCCAC	0.438																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(1408-1410)tgC>tgT		solute carrier family 16, member 9							65.0	72.0	69.0					10																	61412650		2203	4300	6503	SO:0001819	synonymous_variant	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61412650G>A	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1410C>T	10.37:g.61412650G>A						SLC16A9_ENST00000395347.1_Silent_p.C470C	p.C470C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			6	2046	-			470					Q6ZMI2|Q9UFH8	Silent	SNP	ENST00000395348.3	37	c.1410C>T	CCDS7256.1																																																																																				0.438	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		22	33	0	0	0	1	0	22	33				
FCRL1	115350	broad.mit.edu	37	1	157771295	157771295	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157771295G>A	ENST00000368176.3	-	6	1026	c.959C>T	c.(958-960)gCc>gTc	p.A320V	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.A320V	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCACGGTGGCTGGACCAAG	0.458																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(958-960)gCc>gTc		Fc receptor-like 1							73.0	75.0	74.0					1																	157771295		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771295G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.959C>T	1.37:g.157771295G>A	ENSP00000357158:p.Ala320Val					FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.A320V	p.A320V	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1026	-	all_hematologic(112;0.0378)		320					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.959C>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	4.840	0.156109	0.09236	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.42900	0.96;0.99	5.25	-7.24	0.01475	.	2.421730	0.01238	N	0.008528	T	0.08447	0.0210	N	0.21097	0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04976	-1.0914	10	0.18276	T	0.48	.	7.9877	0.30222	0.5936:0.2232:0.1831:0.0	.	320;320	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	V	320	ENSP00000357158:A320V;ENSP00000418130:A320V	ENSP00000357158:A320V	A	-	2	0	FCRL1	156037919	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.793000	0.04589	-1.562000	0.01682	-0.812000	0.03155	GCC		0.458	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		19	34	0	0	0	1	0	19	34				
ABR	29	broad.mit.edu	37	17	916348	916348	+	Silent	SNP	G	G	A	rs141106809		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:916348G>A	ENST00000302538.5	-	17	1994	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	ABR_ENST00000572441.1_Silent_p.N67N|ABR_ENST00000574437.1_Silent_p.N570N|ABR_ENST00000291107.2_Silent_p.N579N|ABR_ENST00000543210.2_Silent_p.N67N|ABR_ENST00000536794.2_Silent_p.N398N|ABR_ENST00000544583.2_Silent_p.N570N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	616					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGCTCACCCCGTTCATCTCAA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		15502	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1708-1710)aaC>aaT		active BCR-related		G	,,	2,4404	4.2+/-10.8	0,2,2201	223.0	169.0	187.0		1737,1710,1848	-9.8	0.6	17	dbSNP_134	187	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABR	NM_001092.3,NM_001159746.1,NM_021962.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	579/823,570/814,616/860	916348	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:916348G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1848C>T	17.37:g.916348G>A						ABR_ENST00000574437.1_Silent_p.N570N|ABR_ENST00000536794.2_Silent_p.N398N|ABR_ENST00000572441.1_Silent_p.N67N|ABR_ENST00000543210.2_Silent_p.N67N|ABR_ENST00000291107.2_Silent_p.N579N|ABR_ENST00000302538.5_Silent_p.N616N	p.N570N	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	17	2309	-			616			C2.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.1710C>T	CCDS10999.1																																																																																				0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			25	41	0	0	0	1	0	25	41				
SDK2	54549	broad.mit.edu	37	17	71384050	71384050	+	Missense_Mutation	SNP	C	C	T	rs377237314	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71384050C>T	ENST00000392650.3	-	30	4319	c.4319G>A	c.(4318-4320)cGc>cAc	p.R1440H	SDK2_ENST00000388726.3_Missense_Mutation_p.R1440H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1440	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGCAGCTCGCGGGTCTGGAT	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15433	0.0		0.0	False		,,,				2504	0.0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4318-4320)cGc>cAc		sidekick cell adhesion molecule 2		C	HIS/ARG	3,4401		0,3,2199	28.0	21.0	23.0		4319	3.6	1.0	17		23	0,8588		0,0,4294	no	missense	SDK2	NM_001144952.1	29	0,3,6493	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1440/2173	71384050	3,12989	2202	4294	6496	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71384050C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4319G>A	17.37:g.71384050C>T	ENSP00000376421:p.Arg1440His					SDK2_ENST00000388726.3_Missense_Mutation_p.R1440H	p.R1440H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			30	4319	-			1440			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4319G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024432	0.75390	6.81E-4	0.0	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.59502	0.26;0.26;0.26	4.58	3.6	0.41247	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061558	0.64402	D	0.000003	T	0.73659	0.3615	M	0.89478	3.035	0.40011	D	0.975285	D;D;D	0.89917	1.0;0.998;0.995	P;P;P	0.62491	0.888;0.903;0.843	T	0.76189	-0.3050	10	0.87932	D	0	.	7.4053	0.26987	0.1653:0.7475:0.0:0.0872	.	1440;1440;1440	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	1064;1440;1440;616;1440	ENSP00000376421:R1440H;ENSP00000373378:R1440H;ENSP00000407098:R616H	ENSP00000324967:R1440H	R	-	2	0	SDK2	68895645	0.995000	0.38212	0.974000	0.42286	0.870000	0.49936	3.257000	0.51500	0.915000	0.36847	0.462000	0.41574	CGC		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		5	6	0	0	0	1	0	5	6				
STOML1	9399	broad.mit.edu	37	15	74281124	74281124	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74281124G>A	ENST00000316900.5	-	4	534	c.410C>T	c.(409-411)gCt>gTt	p.A137V	STOML1_ENST00000564777.1_Missense_Mutation_p.A87V|STOML1_ENST00000541638.1_Missense_Mutation_p.A95V|STOML1_ENST00000316911.6_Missense_Mutation_p.A87V|STOML1_ENST00000561656.1_Missense_Mutation_p.A50V|STOML1_ENST00000359750.4_Missense_Mutation_p.A137V	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	137						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGACAGCACAGCCCCGTCCTT	0.632																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(409-411)gCt>gTt		stomatin (EPB72)-like 1							82.0	78.0	79.0					15																	74281124		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281124G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.410C>T	15.37:g.74281124G>A	ENSP00000319323:p.Ala137Val					STOML1_ENST00000564777.1_Missense_Mutation_p.A87V|STOML1_ENST00000541638.1_Missense_Mutation_p.A95V|STOML1_ENST00000359750.4_Missense_Mutation_p.A137V|STOML1_ENST00000316911.6_Missense_Mutation_p.A87V|STOML1_ENST00000561656.1_Missense_Mutation_p.A50V	p.A137V	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			4	534	-			137					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.410C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894233	0.17613	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	4.34	4.34	0.51931	.	0.162221	0.53938	D	0.000041	T	0.79799	0.4508	N	0.01235	-0.94	0.44694	D	0.997682	P;P;P;P;P;P	0.40398	0.536;0.716;0.48;0.716;0.536;0.536	B;B;B;B;B;B	0.41374	0.134;0.288;0.35;0.288;0.134;0.355	T	0.79536	-0.1763	10	0.16896	T	0.51	-4.165	9.3902	0.38367	0.0982:0.0:0.9018:0.0	.	95;137;87;137;137;137	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	V	137;87;95;137	ENSP00000319323:A137V;ENSP00000319384:A87V;ENSP00000442478:A95V;ENSP00000352788:A137V	ENSP00000319323:A137V	A	-	2	0	STOML1	72068177	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.960000	0.63673	2.250000	0.74265	0.655000	0.94253	GCT		0.632	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		15	38	0	0	0	1	0	15	38				
FAT3	120114	broad.mit.edu	37	11	92534794	92534794	+	Missense_Mutation	SNP	C	C	T	rs202096902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92534794C>T	ENST00000298047.6	+	9	8632	c.8615C>T	c.(8614-8616)aCg>aTg	p.T2872M	FAT3_ENST00000409404.2_Missense_Mutation_p.T2872M|FAT3_ENST00000525166.1_Missense_Mutation_p.T2722M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2872	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGCAACACGGGCTGGATC	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8614-8616)aCg>aTg		FAT atypical cadherin 3							82.0	84.0	83.0					11																	92534794		2060	4199	6259	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534794C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8615C>T	11.37:g.92534794C>T	ENSP00000298047:p.Thr2872Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.T2872M|FAT3_ENST00000525166.1_Missense_Mutation_p.T2722M	p.T2872M			Q8TDW7	FAT3_HUMAN			9	8632	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2872			Cadherin 26.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8615C>T		.	.	.	.	.	.	.	.	.	.	C	16.90	3.251187	0.59212	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	6.04	5.08	0.68730	.	.	.	.	.	T	0.11495	0.0280	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	P	0.61201	0.885	T	0.00022	-1.2336	9	0.87932	D	0	.	14.1383	0.65303	0.0:0.6913:0.3087:0.0	.	2872	Q8TDW7-3	.	M	2872;2872;2722	ENSP00000298047:T2872M;ENSP00000387040:T2872M;ENSP00000432586:T2722M	ENSP00000298047:T2872M	T	+	2	0	FAT3	92174442	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.870000	0.56070	2.873000	0.98535	0.563000	0.77884	ACG		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	13	0	0	0	1	0	14	13				
FAM129B	64855	broad.mit.edu	37	9	130286015	130286015	+	Missense_Mutation	SNP	C	C	A	rs144153796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130286015C>A	ENST00000373312.3	-	5	745	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A165S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	178	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCCTGCTCGGCTTCTGTCATC	0.607											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(532-534)Gcc>Tcc		family with sequence similarity 129, member B							107.0	89.0	95.0					9																	130286015		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130286015C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.532G>T	9.37:g.130286015C>A	ENSP00000362409:p.Ala178Ser		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000373314.3_Missense_Mutation_p.A165S|FAM129B_ENST00000468379.1_Intron	p.A178S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	745	-			178			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.532G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368236	0.42003	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.17370	2.28;2.28	5.24	2.27	0.28462	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.503980	0.20870	N	0.084184	T	0.07999	0.0200	L	0.28115	0.83	0.31914	N	0.614288	B;B	0.23058	0.029;0.079	B;B	0.17433	0.018;0.018	T	0.13791	-1.0496	10	0.15066	T	0.55	-19.9325	1.3335	0.02140	0.1662:0.4529:0.1824:0.1985	.	165;178	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	165;178	ENSP00000362411:A165S;ENSP00000362409:A178S	ENSP00000362409:A178S	A	-	1	0	FAM129B	129325836	1.000000	0.71417	0.682000	0.30024	0.899000	0.52679	3.120000	0.50430	1.212000	0.43366	0.561000	0.74099	GCC		0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		10	31	1	0	0.000442599	1	0.000451009	10	31				
HEATR5A	25938	broad.mit.edu	37	14	31813196	31813196	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31813196C>T	ENST00000389961.3	-	20	3115	c.3116G>A	c.(3115-3117)tGc>tAc	p.C1039Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1039Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C752Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C1045Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.C1045Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1039										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTGAACAAGGCAGTCTGGGTT	0.438																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3133-3135)tGc>tAc		HEAT repeat containing 5A							78.0	85.0	83.0					14																	31813196		2187	4298	6485	SO:0001583	missense	25938						binding	g.chr14:31813196C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3116G>A	14.37:g.31813196C>T	ENSP00000374611:p.Cys1039Tyr					HEATR5A_ENST00000404677.3_Missense_Mutation_p.C1045Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C752Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.C1039Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1039Y	p.C1045Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	21	3318	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1039					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3134G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.106057|4.106057	0.77096|0.77096	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.06068	.|3.35;3.35;3.35;3.35;3.35	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Armadillo-type fold (1);	.|0.096374	.|0.64402	.|D	.|0.000001	T|T	0.25158|0.25158	0.0611|0.0611	M|M	0.65975|0.65975	2.015|2.015	0.52501|0.52501	D|D	0.999954|0.999954	.|D;D;D	.|0.71674	.|0.998;0.988;0.993	.|D;P;P	.|0.66351	.|0.943;0.796;0.796	T|T	0.00016|0.00016	-1.2384|-1.2384	5|10	.|0.62326	.|D	.|0.03	.|.	20.4581|20.4581	0.99154|0.99154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1045;1039;1039	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	T|Y	673;64|1039;1039;752;1045;1045	.|ENSP00000374611:C1039Y;ENSP00000405407:C1039Y;ENSP00000408681:C752Y;ENSP00000437968:C1045Y;ENSP00000384646:C1045Y	.|ENSP00000374611:C1039Y	A|C	-|-	1|2	0|0	HEATR5A|HEATR5A	30882947|30882947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.611000|2.611000	0.46334|0.46334	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.438	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		10	17	0	0	0	1	0	10	17				
C1orf194	127003	broad.mit.edu	37	1	109650563	109650563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109650563C>T	ENST00000369948.3	-	2	253	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	C1orf194_ENST00000369949.4_Missense_Mutation_p.A48T|C1orf194_ENST00000369945.3_Intron			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	60										large_intestine(2)|lung(2)|ovary(2)	6						AAATAGTAGGCATCCCGCCTC	0.473																																						ENST00000369949.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(142-144)Gcc>Acc		chromosome 1 open reading frame 194							101.0	97.0	98.0					1																	109650563		1568	3582	5150	SO:0001583	missense	127003							g.chr1:109650563C>T		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.178G>A	1.37:g.109650563C>T	ENSP00000358964:p.Ala60Thr					C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Missense_Mutation_p.A60T	p.A48T	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN			2	321	-			60					Q5T5A3	Missense_Mutation	SNP	ENST00000369948.3	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	c	3.529	-0.096088	0.07010	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	3.93	-1.95	0.07548	.	0.965866	0.08430	N	0.947037	T	0.09335	0.0230	L	0.31752	0.955	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.12156	0.007;0.006	T	0.31251	-0.9950	9	0.48119	T	0.1	-0.9105	0.8665	0.01205	0.1623:0.3797:0.1588:0.2992	.	48;60	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	T	48;60	.	ENSP00000358964:A60T	A	-	1	0	C1orf194	109452086	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-0.582000	0.05814	-0.483000	0.06772	-0.524000	0.04348	GCC		0.473	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961		17	19	0	0	0	1	0	17	19				
ZNF831	128611	broad.mit.edu	37	20	57829414	57829414	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57829414A>T	ENST00000371030.2	+	5	4650	c.4650A>T	c.(4648-4650)ggA>ggT	p.G1550G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1550							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCATCTGGACAAAGAATTT	0.498																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4648-4650)ggA>ggT		zinc finger protein 831							40.0	43.0	42.0					20																	57829414		1955	4158	6113	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829414A>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4650A>T	20.37:g.57829414A>T							p.G1550G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4650	+	all_lung(29;0.0085)		1550					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.4650A>T	CCDS42894.1																																																																																				0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	10	0	0	0	1	0	7	10				
COPG1	22820	broad.mit.edu	37	3	128979598	128979598	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128979598G>A	ENST00000314797.6	+	12	1180	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	359					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGCATCGACCGCCTCATGAAG	0.562																																						ENST00000314797.6																			0											c.(1075-1077)cGc>cAc		coatomer protein complex, subunit gamma 1							96.0	87.0	90.0					3																	128979598		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128979598G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1076G>A	3.37:g.128979598G>A	ENSP00000325002:p.Arg359His						p.R359H	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			12	1180	+			359					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1076G>A	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784014	0.70222	.	.	ENSG00000181789	ENST00000314797	T	0.27104	1.69	6.01	5.12	0.69794	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.077604	0.50627	D	0.000108	T	0.41465	0.1160	M	0.88979	2.995	0.46586	D	0.999115	P	0.41041	0.736	B	0.41860	0.368	T	0.52711	-0.8539	10	0.87932	D	0	-5.8937	14.2189	0.65812	0.0:0.0:0.8409:0.1591	.	359	Q9Y678	COPG_HUMAN	H	359	ENSP00000325002:R359H	ENSP00000325002:R359H	R	+	2	0	COPG	130462288	1.000000	0.71417	0.580000	0.28601	0.129000	0.20672	9.607000	0.98328	1.524000	0.49035	0.558000	0.71614	CGC		0.562	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		13	27	0	0	0	1	0	13	27				
SLC36A1	206358	broad.mit.edu	37	5	150867696	150867696	+	Missense_Mutation	SNP	G	G	A	rs373055649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150867696G>A	ENST00000243389.3	+	11	1535	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	SLC36A1_ENST00000520701.1_Missense_Mutation_p.A438T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CTTTAAGGACGCCCTGATCAG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19678	0.0		0.0	False		,,,				2504	0.0				Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1312-1314)Gcc>Acc		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	98.0	86.0	90.0		1312	3.7	1.0	5		90	0,8600		0,0,4300	no	missense	SLC36A1	NM_078483.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	438/477	150867696	1,13005	2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150867696G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1312G>A	5.37:g.150867696G>A	ENSP00000243389:p.Ala438Thr					SLC36A1_ENST00000520701.1_Missense_Mutation_p.A438T	p.A438T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1535	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	438					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1312G>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718881	0.48622	2.27E-4	0.0	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.02197	4.4;4.4	5.53	3.65	0.41850	.	0.187141	0.46145	D	0.000319	T	0.01661	0.0053	N	0.17594	0.5	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.53676	-0.8405	10	0.59425	D	0.04	.	6.695	0.23193	0.2127:0.154:0.6334:0.0	.	438	Q7Z2H8	S36A1_HUMAN	T	438	ENSP00000428140:A438T;ENSP00000243389:A438T	ENSP00000243389:A438T	A	+	1	0	SLC36A1	150847889	0.756000	0.28383	1.000000	0.80357	0.734000	0.41952	0.230000	0.17852	2.593000	0.87608	0.455000	0.32223	GCC		0.582	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		14	28	0	0	0	1	0	14	28				
THNSL1	79896	broad.mit.edu	37	10	25312242	25312242	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:25312242G>A	ENST00000524413.1	+	3	437	c.90G>A	c.(88-90)caG>caA	p.Q30Q	THNSL1_ENST00000376356.4_Silent_p.Q30Q			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	30						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AACATGCACAGCGATTTCTTT	0.378																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(88-90)caG>caA		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						98.0	100.0	100.0					10																	25312242		2203	4300	6503	SO:0001819	synonymous_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312242G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.90G>A	10.37:g.25312242G>A						THNSL1_ENST00000376356.4_Silent_p.Q30Q	p.Q30Q			Q8IYQ7	THNS1_HUMAN			3	437	+			30					B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	c.90G>A	CCDS7147.1																																																																																				0.378	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		29	32	0	0	0	1	0	29	32				
NPC1	4864	broad.mit.edu	37	18	21114442	21114442	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21114442C>T	ENST00000269228.5	-	23	4113	c.3559G>A	c.(3559-3561)Gcg>Acg	p.A1187T	NPC1_ENST00000412552.2_Missense_Mutation_p.A869T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1187					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCCTCTTCCGCGCGCTCCACG	0.587																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3559-3561)Gcg>Acg		Niemann-Pick disease, type C1							66.0	57.0	60.0					18																	21114442		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21114442C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3559G>A	18.37:g.21114442C>T	ENSP00000269228:p.Ala1187Thr					NPC1_ENST00000412552.2_Missense_Mutation_p.A869T	p.A1187T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			23	4113	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1187					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.3559G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961681	0.92791	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85773	-2.03;-2.03	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	D	0.92603	0.6093	10	0.62326	D	0.03	-22.7853	20.1458	0.98076	0.0:1.0:0.0:0.0	.	1198;1187	Q59GR1;O15118	.;NPC1_HUMAN	T	1187;869	ENSP00000269228:A1187T;ENSP00000408606:A869T	ENSP00000269228:A1187T	A	-	1	0	NPC1	19368440	1.000000	0.71417	0.174000	0.22961	0.295000	0.27426	6.034000	0.70933	2.765000	0.95021	0.643000	0.83706	GCG		0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		15	19	0	0	0	1	0	15	19				
G6PC	2538	broad.mit.edu	37	17	41056010	41056010	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41056010C>T	ENST00000253801.2	+	2	372	c.293C>T	c.(292-294)tCc>tTc	p.S98F	G6PC_ENST00000592383.1_Missense_Mutation_p.S98F|G6PC_ENST00000585489.1_Missense_Mutation_p.S98F	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	98					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGCAACACTTCCGTGCCCCTG	0.493																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(292-294)tCc>tTc		glucose-6-phosphatase, catalytic subunit							165.0	140.0	149.0					17																	41056010		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41056010C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.293C>T	17.37:g.41056010C>T	ENSP00000253801:p.Ser98Phe					G6PC_ENST00000592383.1_Missense_Mutation_p.S98F|G6PC_ENST00000585489.1_Missense_Mutation_p.S98F	p.S98F	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	372	+		Breast(137;0.000143)	98					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.293C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356269	0.41700	.	.	ENSG00000131482	ENST00000253801	T	0.75367	-0.93	4.94	4.94	0.65067	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.261641	0.37136	N	0.002225	D	0.87083	0.6089	M	0.83603	2.65	0.34552	D	0.711404	D;D	0.76494	0.996;0.999	D;D	0.71414	0.93;0.973	D	0.91530	0.5241	10	0.62326	D	0.03	.	18.352	0.90342	0.0:1.0:0.0:0.0	.	100;98	E7ENG5;P35575	.;G6PC_HUMAN	F	98	ENSP00000253801:S98F	ENSP00000253801:S98F	S	+	2	0	G6PC	38309536	0.863000	0.29885	0.867000	0.34043	0.083000	0.17756	2.376000	0.44292	2.560000	0.86352	0.591000	0.81541	TCC		0.493	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		15	80	0	0	0	1	0	15	80				
CHRNA6	8973	broad.mit.edu	37	8	42611543	42611543	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42611543C>T	ENST00000276410.2	-	5	1154	c.799G>A	c.(799-801)Gac>Aac	p.D267N	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.D252N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	267					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TCACCACAGTCCGAAGGAAGG	0.408																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(799-801)Gac>Aac		cholinergic receptor, nicotinic, alpha 6 (neuronal)							101.0	92.0	95.0					8																	42611543		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611543C>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.799G>A	8.37:g.42611543C>T	ENSP00000276410:p.Asp267Asn					CHRNA6_ENST00000534622.1_Missense_Mutation_p.D252N	p.D267N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1154	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	267					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.799G>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634276	0.87660	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.74209	-0.82;-0.82	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.082700	0.85682	D	0.000000	D	0.87966	0.6311	M	0.83953	2.67	0.80722	D	1	P;D	0.61697	0.859;0.99	P;D	0.71184	0.877;0.972	D	0.88217	0.2894	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	252;267	B4DQH1;Q15825	.;ACHA6_HUMAN	N	267;252	ENSP00000276410:D267N;ENSP00000433871:D252N	ENSP00000276410:D267N	D	-	1	0	CHRNA6	42730700	1.000000	0.71417	0.990000	0.47175	0.871000	0.50021	6.018000	0.70811	2.828000	0.97474	0.655000	0.94253	GAC		0.408	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			11	25	0	0	0	1	0	11	25				
KCNA1	3736	broad.mit.edu	37	12	5021063	5021063	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:5021063C>T	ENST00000382545.3	+	2	1626	c.519C>T	c.(517-519)tcC>tcT	p.S173S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	173					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCATCGTCTCCGTCATGGTCA	0.627																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(517-519)tcC>tcT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						88.0	86.0	87.0					12																	5021063		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021063C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.519C>T	12.37:g.5021063C>T						KCNA1_ENST00000543874.2_Intron	p.S173S	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1626	+			173					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.519C>T	CCDS8535.1																																																																																				0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		6	55	0	0	0	1	0	6	55				
EMC3	55831	broad.mit.edu	37	3	10050219	10050219	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10050219C>T	ENST00000383808.2	-	0	559																											CTCAGCAGGGCGGGTTCCCAA	0.587																																						ENST00000383808.2																			0																				9.0	9.0	9.0					3																	10050219		692	1590	2282			0							g.chr3:10050219C>T																													3.37:g.10050219C>T														0	559	-									RNA	SNP	ENST00000383808.2	37																																																																																						0.587	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			15	11	0	0	0	1	0	15	11				
NME7	29922	broad.mit.edu	37	1	169206902	169206902	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169206902C>T	ENST00000367811.3	-	8	1034	c.778G>A	c.(778-780)Gct>Act	p.A260T	NME7_ENST00000472647.1_Missense_Mutation_p.A224T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	260					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTCGGATAGCCATCAGGATC	0.303																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(778-780)Gct>Act		NME/NM23 family member 7							73.0	70.0	71.0					1																	169206902		2202	4300	6502	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169206902C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.778G>A	1.37:g.169206902C>T	ENSP00000356785:p.Ala260Thr					NME7_ENST00000472647.1_Missense_Mutation_p.A224T	p.A260T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			8	1034	-	all_hematologic(923;0.208)		260					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.778G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581489	0.28180	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.54866	0.55;0.55	5.6	3.74	0.42951	.	0.220086	0.47455	N	0.000223	T	0.29882	0.0747	M	0.85373	2.75	0.28507	N	0.913732	B	0.02656	0.0	B	0.12156	0.007	T	0.17684	-1.0361	9	0.13853	T	0.58	-10.5006	5.3993	0.16286	0.1607:0.6724:0.0:0.167	.	260	Q9Y5B8	NDK7_HUMAN	T	224;260	ENSP00000433341:A224T;ENSP00000356785:A260T	ENSP00000356785:A260T	A	-	1	0	NME7	167473526	0.965000	0.33210	0.997000	0.53966	0.857000	0.48899	0.405000	0.21015	0.744000	0.32741	0.555000	0.69702	GCT		0.303	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		24	85	0	0	0	1	0	24	85				
EIF3B	8662	broad.mit.edu	37	7	2409152	2409152	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2409152G>A	ENST00000360876.4	+	10	1505	c.1449G>A	c.(1447-1449)gtG>gtA	p.V483V	EIF3B_ENST00000397011.2_Silent_p.V483V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCTTCTGGGTGCCTGAAGACA	0.473																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1447-1449)gtG>gtA		eukaryotic translation initiation factor 3, subunit B							202.0	209.0	206.0					7																	2409152		2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2409152G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1449G>A	7.37:g.2409152G>A						EIF3B_ENST00000397011.2_Silent_p.V483V	p.V483V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	10	1505	+		Ovarian(82;0.0253)	483						Silent	SNP	ENST00000360876.4	37	c.1449G>A	CCDS5332.1																																																																																				0.473	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			5	209	0	0	0	1	0	5	209				
PTPN22	26191	broad.mit.edu	37	1	114401162	114401162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114401162G>A	ENST00000359785.5	-	4	442	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Q103*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	103	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGACCCTGGGTGGCAATA	0.438																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(307-309)Cag>Tag		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							46.0	46.0	46.0					1																	114401162		2203	4300	6503	SO:0001587	stop_gained	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114401162G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.307C>T	1.37:g.114401162G>A	ENSP00000352833:p.Gln103*					PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.Q103*|PTPN22_ENST00000460620.1_Nonsense_Mutation_p.Q103*	p.Q103*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	442	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	103			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Nonsense_Mutation	SNP	ENST00000359785.5	37	c.307C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124953	0.94429	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.156	0.93510	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000346621:Q103X	Q	-	1	0	PTPN22	114202685	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.213000	0.95133	2.700000	0.92200	0.467000	0.42956	CAG		0.438	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	12	0	0	0	1	0	5	12				
USH2A	7399	broad.mit.edu	37	1	215813957	215813957	+	Nonsense_Mutation	SNP	G	G	A	rs397517994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215813957G>A	ENST00000307340.3	-	68	15297	c.14911C>T	c.(14911-14913)Cga>Tga	p.R4971*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.R4971*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4971					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACACGCGTCGCCCTCCGTCG	0.532										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14911-14913)Cga>Tga		Usher syndrome 2A (autosomal recessive, mild)							135.0	102.0	113.0					1																	215813957		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215813957G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14911C>T	1.37:g.215813957G>A	ENSP00000305941:p.Arg4971*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.R4971*	p.R4971*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	68	15297	-			4971			Fibronectin type-III 35.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.14911C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	25.422427	0.99965	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.6	5.6	0.85130	.	0.380260	0.18722	U	0.132991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6338	0.95721	0.0:0.0:1.0:0.0	.	.	.	.	X	4971	.	ENSP00000305941:R4971X	R	-	1	2	USH2A	213880580	0.999000	0.42202	0.014000	0.15608	0.004000	0.04260	3.424000	0.52764	2.636000	0.89361	0.591000	0.81541	CGA		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	24	0	0	0	1	0	4	24				
LDOC1L	84247	broad.mit.edu	37	22	44892885	44892885	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44892885C>T	ENST00000341255.3	-	2	1061	c.552G>A	c.(550-552)gcG>gcA	p.A184A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	184										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GGGCGCGCCGCGCATGCCGGA	0.632																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(550-552)gcG>gcA		leucine zipper, down-regulated in cancer 1-like							33.0	36.0	35.0					22																	44892885		2202	4300	6502	SO:0001819	synonymous_variant	84247							g.chr22:44892885C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.552G>A	22.37:g.44892885C>T							p.A184A	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1061	-		Ovarian(80;0.024)|all_neural(38;0.0416)	184					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.552G>A	CCDS33662.1																																																																																				0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		5	6	0	0	0	1	0	5	6				
ITGB6	3694	broad.mit.edu	37	2	161056553	161056553	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:161056553G>T	ENST00000283249.2	-	1	259	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	ITGB6_ENST00000409967.2_Missense_Mutation_p.L8M|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_De_novo_Start_OutOfFrame|ITGB6_ENST00000409872.1_Missense_Mutation_p.L8M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	8					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAAAGAACAGGCAAAGCAGT	0.403																																						ENST00000428609.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23								integrin, beta 6							136.0	122.0	126.0					2																	161056553		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161056553G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.22C>A	2.37:g.161056553G>T	ENSP00000283249:p.Leu8Met					ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000283249.2_Missense_Mutation_p.L8M|ITGB6_ENST00000409967.2_Missense_Mutation_p.L8M|ITGB6_ENST00000409872.1_Missense_Mutation_p.L8M				P18564	ITB6_HUMAN			0	210	-								B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Translation_Start_Site	SNP	ENST00000283249.2	37		CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281795	0.80692	.	.	ENSG00000115221	ENST00000283249;ENST00000409967;ENST00000409872	D;D;D	0.90900	-2.61;-2.75;-2.61	5.83	4.96	0.65561	.	0.168676	0.40908	D	0.000991	D	0.89825	0.6827	M	0.67953	2.075	0.42377	D	0.992478	P	0.45396	0.857	B	0.42030	0.373	D	0.90204	0.4259	10	0.54805	T	0.06	.	14.7127	0.69244	0.0693:0.0:0.9307:0.0	.	8	P18564	ITB6_HUMAN	M	8	ENSP00000283249:L8M;ENSP00000386828:L8M;ENSP00000386367:L8M	ENSP00000283249:L8M	L	-	1	2	ITGB6	160764799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.440000	0.52886	1.485000	0.48380	0.591000	0.81541	CTG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		11	26	1	0	6.40141e-05	1	6.5734e-05	11	26				
STAB1	23166	broad.mit.edu	37	3	52557678	52557678	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52557678C>T	ENST00000321725.6	+	66	7377	c.7301C>T	c.(7300-7302)aCa>aTa	p.T2434I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2434	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCAGGGACAGTTGTGGTT	0.637																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7300-7302)aCa>aTa		stabilin 1							74.0	71.0	72.0					3																	52557678		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557678C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7301C>T	3.37:g.52557678C>T	ENSP00000312946:p.Thr2434Ile						p.T2434I	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	66	7377	+			2434			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.7301C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738883	0.15642	.	.	ENSG00000010327	ENST00000321725	D	0.84660	-1.88	5.79	5.79	0.91817	FAS1 domain (4);	0.709515	0.13551	N	0.379455	T	0.71592	0.3358	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.059;0.062	B;B	0.15484	0.013;0.008	T	0.57051	-0.7877	10	0.23891	T	0.37	.	13.2054	0.59793	0.0:0.8405:0.1595:0.0	.	346;2434	B3KSK0;Q9NY15	.;STAB1_HUMAN	I	2434	ENSP00000312946:T2434I	ENSP00000312946:T2434I	T	+	2	0	STAB1	52532718	0.002000	0.14202	0.976000	0.42696	0.411000	0.31082	1.113000	0.31184	2.745000	0.94114	0.462000	0.41574	ACA		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	16	0	0	0	1	0	7	16				
ECT2	1894	broad.mit.edu	37	3	172480331	172480331	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172480331T>C	ENST00000392692.3	+	9	1060	c.884T>C	c.(883-885)aTg>aCg	p.M295T	ECT2_ENST00000417960.1_Missense_Mutation_p.M263T|ECT2_ENST00000232458.5_Missense_Mutation_p.M264T|ECT2_ENST00000441497.2_Missense_Mutation_p.M264T|ECT2_ENST00000540509.1_Missense_Mutation_p.M295T|ECT2_ENST00000427830.1_Missense_Mutation_p.M264T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	295	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGACTGAAATGCAAGGTAAA	0.299																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(787-789)aTg>aCg		epithelial cell transforming sequence 2 oncogene							53.0	52.0	52.0					3																	172480331		2202	4296	6498	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480331T>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.884T>C	3.37:g.172480331T>C	ENSP00000376457:p.Met295Thr					ECT2_ENST00000427830.1_Missense_Mutation_p.M264T|ECT2_ENST00000441497.2_Missense_Mutation_p.M264T|ECT2_ENST00000392692.3_Missense_Mutation_p.M295T|ECT2_ENST00000232458.5_Missense_Mutation_p.M264T|ECT2_ENST00000540509.1_Missense_Mutation_p.M295T	p.M263T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	1265	+	Ovarian(172;0.00197)|Breast(254;0.158)		264			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.788T>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667461	0.29604	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.51	5.51	0.81932	BRCT (4);	0.111276	0.85682	D	0.000000	T	0.72137	0.3423	L	0.42245	1.32	0.47584	D	0.999461	B;B;B;B	0.17038	0.002;0.02;0.005;0.002	B;B;B;B	0.20577	0.003;0.03;0.003;0.002	T	0.67003	-0.5780	10	0.32370	T	0.25	-20.3332	15.9062	0.79433	0.0:0.0:0.0:1.0	.	295;295;264;263	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	T	264;295;264;263;264;295	ENSP00000232458:M264T;ENSP00000376457:M295T;ENSP00000401910:M264T;ENSP00000415876:M263T;ENSP00000412259:M264T;ENSP00000443160:M295T	ENSP00000232458:M264T	M	+	2	0	ECT2	173963025	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.600000	0.67599	2.215000	0.71742	0.482000	0.46254	ATG		0.299	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		19	16	0	0	0	1	0	19	16				
GANAB	23193	broad.mit.edu	37	11	62397734	62397734	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62397734G>A	ENST00000356638.3	-	13	1544	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	GANAB_ENST00000540933.1_Missense_Mutation_p.P413S|GANAB_ENST00000346178.4_Missense_Mutation_p.P532S|GANAB_ENST00000534779.1_Missense_Mutation_p.P418S|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	510					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTGAAGTCAGGGTAACCAGCT	0.542																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1594-1596)Cct>Tct		glucosidase, alpha; neutral AB							81.0	70.0	73.0					11																	62397734		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397734G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1528C>T	11.37:g.62397734G>A	ENSP00000349053:p.Pro510Ser					GANAB_ENST00000534779.1_Missense_Mutation_p.P418S|GANAB_ENST00000356638.3_Missense_Mutation_p.P510S|GANAB_ENST00000540933.1_Missense_Mutation_p.P413S	p.P532S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			14	1609	-			510					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1594C>T	CCDS8026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.24|19.24	3.788803|3.788803	0.70337|0.70337	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000540002|ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.|D;D;D;D	.|0.93366	.|-3.21;-3.21;-3.21;-3.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Glycoside hydrolase, superfamily (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.93507|0.93507	3.425|3.425	0.80722|0.80722	D|D	1|1	.|B;B;D;D	.|0.55605	.|0.261;0.261;0.972;0.965	.|B;B;P;P	.|0.59288	.|0.221;0.324;0.855;0.852	D|D	0.97355|0.97355	0.9966|0.9966	6|10	.|0.54805	.|T	.|0.06	-17.6893|-17.6893	16.2695|16.2695	0.82607|0.82607	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|396;418;510;532	.|B4DIW2;E9PKU7;Q14697;Q14697-2	.|.;.;GANAB_HUMAN;.	L|S	95|532;510;418;413	.|ENSP00000340466:P532S;ENSP00000349053:P510S;ENSP00000435306:P418S;ENSP00000442962:P413S	.|ENSP00000340466:P532S	P|P	-|-	2|1	0|0	GANAB|GANAB	62154310|62154310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.591000|8.591000	0.90824|0.90824	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		7	10	0	0	0	1	0	7	10				
CCDC110	256309	broad.mit.edu	37	4	186381043	186381043	+	Missense_Mutation	SNP	C	C	T	rs77987360	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186381043C>T	ENST00000307588.3	-	6	773	c.698G>A	c.(697-699)gGa>gAa	p.G233E	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.G233E|CCDC110_ENST00000393540.3_Missense_Mutation_p.G196E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	233						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCACAAAATCCATGCTTGAG	0.353													C|||	14	0.00279553	0.0106	0.0	5008	,	,		20490	0.0		0.0	False		,,,				2504	0.0					ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(697-699)gGa>gAa		coiled-coil domain containing 110		C	GLU/GLY,GLU/GLY	40,4366	43.8+/-77.6	0,40,2163	72.0	71.0	71.0		587,698	2.7	1.0	4	dbSNP_131	71	0,8596		0,0,4298	yes	missense,missense	CCDC110	NM_001145411.1,NM_152775.3	98,98	0,40,6461	TT,TC,CC		0.0,0.9079,0.3076	benign,benign	196/797,233/834	186381043	40,12962	2203	4298	6501	SO:0001583	missense	256309					nucleus		g.chr4:186381043C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.698G>A	4.37:g.186381043C>T	ENSP00000306776:p.Gly233Glu					CCDC110_ENST00000393540.3_Missense_Mutation_p.G196E|CCDC110_ENST00000510617.1_Missense_Mutation_p.G233E	p.G233E	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	773	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	233					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.698G>A	CCDS3843.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	13.02	2.112197	0.37242	0.009079	0.0	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617;ENST00000506876	T;T;T;T	0.42900	3.53;3.51;3.51;0.96	5.8	2.69	0.31865	.	0.357615	0.24001	N	0.042467	T	0.13628	0.0330	L	0.38838	1.175	0.30402	N	0.779884	B;B;B	0.14805	0.011;0.009;0.011	B;B;B	0.17433	0.018;0.013;0.018	T	0.12578	-1.0542	10	0.14656	T	0.56	-14.0978	4.6678	0.12675	0.1686:0.5791:0.0:0.2524	.	233;196;233	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	E	196;233;233;253	ENSP00000377172:G196E;ENSP00000306776:G233E;ENSP00000427246:G233E;ENSP00000425276:G253E	ENSP00000306776:G233E	G	-	2	0	CCDC110	186618037	0.050000	0.20438	0.995000	0.50966	0.972000	0.66771	0.474000	0.22148	0.769000	0.33313	0.650000	0.86243	GGA		0.353	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		24	27	0	0	0	1	0	24	27				
EP300	2033	broad.mit.edu	37	22	41536147	41536147	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41536147C>T	ENST00000263253.7	+	9	2983	c.1764C>T	c.(1762-1764)gtC>gtT	p.V588V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	588	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTCCAGCGTCCAAGCCATAT	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1762-1764)gtC>gtT		E1A binding protein p300							101.0	95.0	97.0					22																	41536147		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41536147C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1764C>T	22.37:g.41536147C>T							p.V588V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			9	2983	+			588			KIX.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.1764C>T	CCDS14010.1																																																																																				0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	55	0	0	0	1	0	30	55				
APLNR	187	broad.mit.edu	37	11	57003519	57003519	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57003519G>C	ENST00000606794.1	-	1	1156	c.960C>G	c.(958-960)tgC>tgG	p.C320W		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	320					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCATGGAGGTGCAGGCCTGGC	0.617																																						ENST00000606794.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(958-960)tgC>tgG		apelin receptor							74.0	46.0	56.0					11																	57003519		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003519G>C	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.960C>G	11.37:g.57003519G>C	ENSP00000475344:p.Cys320Trp						p.C320W	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	1156	-			320						Missense_Mutation	SNP	ENST00000606794.1	37	c.960C>G	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286307	0.40494	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.37058	1.22	5.46	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	N	0.14661	0.345	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.17837	-1.0356	10	0.56958	D	0.05	-36.1227	7.882	0.29627	0.3252:0.0:0.6748:0.0	.	320	P35414	APJ_HUMAN	W	320;201;239	ENSP00000257254:C320W	ENSP00000257254:C320W	C	-	3	2	APLNR	56760095	0.065000	0.20965	0.942000	0.38095	0.992000	0.81027	0.463000	0.21972	0.286000	0.22352	0.655000	0.94253	TGC		0.617	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		8	18	0	0	0	1	0	8	18				
ZFP69	339559	broad.mit.edu	37	1	40961711	40961711	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40961711G>A	ENST00000372706.1	+	6	2567	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	ZFP69_ENST00000372705.3_Missense_Mutation_p.A521T|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGGAGGAACGCCTTCCGAAA	0.368																																						ENST00000372706.1																			0											c.(1561-1563)Gcc>Acc		ZFP69 zinc finger protein							55.0	58.0	57.0					1																	40961711		2193	4297	6490	SO:0001583	missense	339559							g.chr1:40961711G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1561G>A	1.37:g.40961711G>A	ENSP00000361791:p.Ala521Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.A521T	p.A521T							6	2567	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1561G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060714	0.00386	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04654	3.58;3.58	4.51	-0.831	0.10789	.	0.593844	0.14091	N	0.341961	T	0.01695	0.0054	N	0.02842	-0.48	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.43228	-0.9404	10	0.45353	T	0.12	0.4292	1.0158	0.01507	0.3546:0.1395:0.3484:0.1575	.	521	Q49AA0	ZN642_HUMAN	T	521	ENSP00000361791:A521T;ENSP00000361790:A521T	ENSP00000361790:A521T	A	+	1	0	ZNF642	40734298	0.001000	0.12720	0.005000	0.12908	0.359000	0.29487	0.032000	0.13732	-0.122000	0.11766	-0.995000	0.02519	GCC		0.368	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		17	39	0	0	0	1	0	17	39				
RNMT	8731	broad.mit.edu	37	18	13731575	13731575	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13731575C>T	ENST00000383314.2	+	3	299	c.59C>T	c.(58-60)gCg>gTg	p.A20V	RNMT_ENST00000592764.1_Missense_Mutation_p.A20V|RNMT_ENST00000589866.1_Missense_Mutation_p.A20V|RNMT_ENST00000543302.2_Missense_Mutation_p.A20V|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.A20V			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	20					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAGGCAAAAGCGTCAGTGAAT	0.363																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(58-60)gCg>gTg		RNA (guanine-7-) methyltransferase							94.0	105.0	101.0					18																	13731575		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731575C>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.59C>T	18.37:g.13731575C>T	ENSP00000372804:p.Ala20Val					RNMT_ENST00000543302.2_Missense_Mutation_p.A20V|RNMT_ENST00000262173.3_Missense_Mutation_p.A20V|RNMT_ENST00000589866.1_Missense_Mutation_p.A20V|RNMT_ENST00000592764.1_Missense_Mutation_p.A20V|RNMT_ENST00000535051.1_Intron	p.A20V			O43148	MCES_HUMAN			3	299	+			20					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.59C>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	c	6.184	0.402094	0.11696	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.08	4.21	0.49690	.	0.825877	0.10970	N	0.613906	T	0.30696	0.0773	L	0.29908	0.895	0.23506	N	0.997535	B;B	0.25007	0.116;0.004	B;B	0.15052	0.012;0.002	T	0.14643	-1.0465	9	0.33940	T	0.23	-0.3451	10.0606	0.42273	0.0:0.9054:0.0:0.0946	.	20;20	O43148-2;O43148	.;MCES_HUMAN	V	20	.	ENSP00000262173:A20V	A	+	2	0	RNMT	13721575	0.000000	0.05858	0.018000	0.16275	0.043000	0.13939	0.028000	0.13644	1.283000	0.44513	-0.119000	0.15052	GCG		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		40	57	0	0	0	1	0	40	57				
TNFRSF8	943	broad.mit.edu	37	1	12175745	12175745	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12175745C>A	ENST00000263932.2	+	8	1127	c.905C>A	c.(904-906)cCc>cAc	p.P302H	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P191H	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	302					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CGCTGTGTCCCCTACCCAATC	0.617																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(904-906)cCc>cAc		tumor necrosis factor receptor superfamily, member 8							127.0	94.0	106.0					1																	12175745		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12175745C>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.905C>A	1.37:g.12175745C>A	ENSP00000263932:p.Pro302His					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P191H	p.P302H	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1127	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	302					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.905C>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738183	0.49045	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.74315	-0.83;-0.83	3.72	-2.5	0.06384	.	.	.	.	.	T	0.63674	0.2531	L	0.39898	1.24	0.09310	N	1	D;P	0.60575	0.988;0.939	P;P	0.48873	0.533;0.593	T	0.56312	-0.8000	9	0.62326	D	0.03	-0.5834	1.1447	0.01772	0.166:0.2947:0.3262:0.2131	.	191;302	D3YTD8;P28908	.;TNR8_HUMAN	H	302;191	ENSP00000263932:P302H;ENSP00000390650:P191H	ENSP00000263932:P302H	P	+	2	0	TNFRSF8	12098332	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-0.378000	0.07446	-0.228000	0.09869	0.453000	0.30009	CCC		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			11	32	1	0	3.86212e-05	1	3.97146e-05	11	32				
TKTL2	84076	broad.mit.edu	37	4	164394675	164394675	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164394675C>T	ENST00000280605.3	-	1	372	c.212G>A	c.(211-213)cGg>cAg	p.R71Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	71						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R71Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGATGAACCGGTCGTTGTC	0.542																																						ENST00000280605.3																			1	Substitution - Missense(1)	p.R71Q(1)	skin(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(211-213)cGg>cAg		transketolase-like 2							174.0	118.0	137.0					4																	164394675		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394675C>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.212G>A	4.37:g.164394675C>T	ENSP00000280605:p.Arg71Gln						p.R71Q	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	372	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	71					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.212G>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495861	0.44352	.	.	ENSG00000151005	ENST00000280605	T	0.56941	0.43	3.61	2.76	0.32466	Transketolase, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.78616	0.4311	H	0.96720	3.87	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	T	0.81947	-0.0700	10	0.87932	D	0	-9.1964	9.1061	0.36698	0.0:0.889:0.0:0.111	.	71	Q9H0I9	TKTL2_HUMAN	Q	71	ENSP00000280605:R71Q	ENSP00000280605:R71Q	R	-	2	0	TKTL2	164614125	1.000000	0.71417	0.255000	0.24374	0.013000	0.08279	7.169000	0.77578	1.086000	0.41228	0.591000	0.81541	CGG		0.542	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		10	13	0	0	0	1	0	10	13				
RPS6KA1	6195	broad.mit.edu	37	1	26898078	26898078	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26898078A>G	ENST00000374168.2	+	18	1883	c.1729A>G	c.(1729-1731)Aca>Gca	p.T577A	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T485A|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T561A|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T586A|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T566A	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	577	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ACCTTGCTACACAGCCAACTT	0.597																																						ENST00000374168.2																			0				lung(1)	1						c.(1729-1731)Aca>Gca		ribosomal protein S6 kinase, 90kDa, polypeptide 1							65.0	56.0	59.0					1																	26898078		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898078A>G	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1729A>G	1.37:g.26898078A>G	ENSP00000363283:p.Thr577Ala					RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T485A|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T566A|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T561A|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T586A	p.T577A	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	18	1883	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	577			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1729A>G	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881503	0.91740	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.92738	3.34	0.80722	D	1	P;D;P	0.57899	0.947;0.981;0.479	P;P;P	0.60012	0.799;0.867;0.833	D	0.85213	0.1022	10	0.87932	D	0	.	15.6863	0.77411	1.0:0.0:0.0:0.0	.	561;586;577	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	A	577;566;485;485;561;586	ENSP00000363283:T577A;ENSP00000363281:T566A;ENSP00000431651:T485A;ENSP00000363277:T485A;ENSP00000432281:T561A;ENSP00000435412:T586A	ENSP00000363277:T485A	T	+	1	0	RPS6KA1	26770665	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.094000	0.63399	0.460000	0.39030	ACA		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		6	16	0	0	0	1	0	6	16				
RFX5	5993	broad.mit.edu	37	1	151316303	151316303	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151316303G>A	ENST00000290524.4	-	9	789	c.611C>T	c.(610-612)gCg>gTg	p.A204V	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.A164V|RFX5_ENST00000368870.2_Missense_Mutation_p.A204V|RFX5_ENST00000452671.2_Missense_Mutation_p.A204V|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	204					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGGCACACGCTGCCTCCAC	0.552																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(610-612)gCg>gTg		regulatory factor X, 5 (influences HLA class II expression)							102.0	92.0	95.0					1																	151316303		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316303G>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.611C>T	1.37:g.151316303G>A	ENSP00000290524:p.Ala204Val					RFX5_ENST00000452513.2_Missense_Mutation_p.A164V|RFX5_ENST00000452671.2_Missense_Mutation_p.A204V|RFX5_ENST00000368870.2_Missense_Mutation_p.A204V	p.A204V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	789	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		204					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.611C>T	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370389	0.95900	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;D;T;T;T;T	0.82344	-0.85;-0.85;-1.6;-0.85;-0.88;-0.85;-1.43	5.81	5.81	0.92471	.	0.056001	0.64402	D	0.000001	D	0.90734	0.7092	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.959	D	0.91189	0.4982	10	0.87932	D	0	-13.4958	18.6464	0.91411	0.0:0.0:1.0:0.0	.	164;204	B7Z848;P48382	.;RFX5_HUMAN	V	204;204;96;204;164;204;204	ENSP00000290524:A204V;ENSP00000357864:A204V;ENSP00000390769:A96V;ENSP00000389130:A204V;ENSP00000398388:A164V;ENSP00000376502:A204V;ENSP00000399095:A204V	ENSP00000290524:A204V	A	-	2	0	RFX5	149582927	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.940000	0.92958	2.746000	0.94184	0.655000	0.94253	GCG		0.552	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		18	36	0	0	0	1	0	18	36				
PDE3A	5139	broad.mit.edu	37	12	20799802	20799802	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:20799802C>T	ENST00000359062.3	+	12	2523	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	828	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGTTGATGGCGCTGTATGTG	0.428																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2482-2484)gCg>gTg		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						181.0	170.0	173.0					12																	20799802		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799802C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2483C>T	12.37:g.20799802C>T	ENSP00000351957:p.Ala828Val					PDE3A_ENST00000544307.1_3'UTR	p.A828V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			12	2523	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	828			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2483C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465497	0.96257	.	.	ENSG00000172572	ENST00000359062	T	0.80994	-1.44	5.85	5.85	0.93711	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.049689	0.85682	D	0.000000	D	0.90779	0.7105	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91056	0.4882	10	0.87932	D	0	.	20.1612	0.98133	0.0:1.0:0.0:0.0	.	828	Q14432	PDE3A_HUMAN	V	828	ENSP00000351957:A828V	ENSP00000351957:A828V	A	+	2	0	PDE3A	20691069	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	7.391000	0.79828	2.766000	0.95052	0.643000	0.83706	GCG		0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			28	73	0	0	0	1	0	28	73				
PCDH11X	27328	broad.mit.edu	37	X	91873427	91873427	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:91873427T>A	ENST00000373094.1	+	7	4377	c.3532T>A	c.(3532-3534)Tca>Aca	p.S1178T	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1160T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1170T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1141T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1141T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1168T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1178					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCACCACTGTCACAGGCCTC	0.582																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3532-3534)Tca>Aca		protocadherin 11 X-linked							176.0	141.0	153.0					X																	91873427		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873427T>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3532T>A	X.37:g.91873427T>A	ENSP00000362186:p.Ser1178Thr					PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1141T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1141T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1168T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1160T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1170T	p.S1178T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4377	+			1178					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3532T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	9.749	1.167082	0.21621	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.49432	0.79;0.8;0.84;0.78;0.81;0.86	3.75	-7.5	0.01351	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.32161	-0.9917	9	0.05525	T	0.97	.	0.6095	0.00759	0.1731:0.2502:0.1949:0.3818	.	1141;1160;1170;1168;1178	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1178;1168;1141;1160;1170;1178;1141	ENSP00000362186:S1178T;ENSP00000362189:S1168T;ENSP00000362180:S1141T;ENSP00000355105:S1160T;ENSP00000384758:S1170T;ENSP00000298274:S1141T	ENSP00000298274:S1141T	S	+	1	0	PCDH11X	91760083	0.000000	0.05858	0.002000	0.10522	0.115000	0.19883	-0.497000	0.06428	-0.931000	0.03746	-0.891000	0.02926	TCA		0.582	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		28	4	0	0	0	1	0	28	4				
BICD2	23299	broad.mit.edu	37	9	95481557	95481557	+	Missense_Mutation	SNP	C	C	T	rs370118099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95481557C>T	ENST00000375512.3	-	5	1437	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	BICD2_ENST00000356884.6_Missense_Mutation_p.R457H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	457					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGCGTGCTGCGCAGTGCCTT	0.637																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1369-1371)cGc>cAc		bicaudal D homolog 2 (Drosophila)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	84.0	70.0	75.0		1370,1370	0.6	0.0	9		75	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	BICD2	NM_001003800.1,NM_015250.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	457/856,457/825	95481557	2,13004	2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481557C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1370G>A	9.37:g.95481557C>T	ENSP00000364662:p.Arg457His					BICD2_ENST00000375512.3_Missense_Mutation_p.R457H	p.R457H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1437	-			457					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1370G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550018	0.13374	0.0	2.33E-4	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46819	0.86;0.86	5.2	0.614	0.17603	.	0.434279	0.24813	N	0.035381	T	0.29256	0.0728	L	0.27053	0.805	0.27309	N	0.957365	B;B	0.15141	0.01;0.012	B;B	0.14578	0.006;0.011	T	0.14090	-1.0485	10	0.39692	T	0.17	-4.4889	6.8674	0.24100	0.0:0.4716:0.0:0.5284	.	457;457	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	457	ENSP00000349351:R457H;ENSP00000364662:R457H	ENSP00000349351:R457H	R	-	2	0	BICD2	94521378	0.964000	0.33143	0.005000	0.12908	0.090000	0.18270	1.967000	0.40491	0.285000	0.22329	0.561000	0.74099	CGC		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		19	20	0	0	0	1	0	19	20				
ANPEP	290	broad.mit.edu	37	15	90344395	90344395	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90344395G>A	ENST00000300060.6	-	12	2079	c.1766C>T	c.(1765-1767)aCa>aTa	p.T589I	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	589	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCTGATGGATGTGATGGGCAC	0.562																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1765-1767)aCa>aTa		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						133.0	119.0	124.0					15																	90344395		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90344395G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1766C>T	15.37:g.90344395G>A	ENSP00000300060:p.Thr589Ile					ANPEP_ENST00000558177.1_5'UTR	p.T589I	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		12	2079	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		589			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1766C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692563	0.30052	.	.	ENSG00000166825	ENST00000300060	T	0.36699	1.24	4.52	4.52	0.55395	.	1.110220	0.06537	N	0.742628	T	0.45856	0.1363	M	0.82716	2.605	0.20403	N	0.99991	P	0.44429	0.835	B	0.37198	0.243	T	0.52208	-0.8606	10	0.72032	D	0.01	.	13.4556	0.61197	0.0:0.0:1.0:0.0	.	589	P15144	AMPN_HUMAN	I	589	ENSP00000300060:T589I	ENSP00000300060:T589I	T	-	2	0	ANPEP	88145399	0.996000	0.38824	0.013000	0.15412	0.011000	0.07611	3.044000	0.49830	2.453000	0.82957	0.462000	0.41574	ACA		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			4	80	0	0	0	1	0	4	80				
SMARCA4	6597	broad.mit.edu	37	19	11123674	11123674	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11123674G>A	ENST00000429416.3	+	17	2605	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G775D|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G775D|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G775D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	775	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACCTGAACGGCATCCTGGCC	0.587			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2323-2325)gGc>gAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							149.0	105.0	120.0					19																	11123674		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123674G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2324G>A	19.37:g.11123674G>A	ENSP00000395654:p.Gly775Asp					SMARCA4_ENST00000589677.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G775D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G775D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G775D|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G775D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G775D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G775D	p.G775D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2608	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	775			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2324G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619948	0.87460	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	4.73	3.7	0.42460	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.99379	4.54	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.999;0.999	D	0.98402	1.0568	10	0.87932	D	0	-36.2999	11.9844	0.53138	0.0859:0.0:0.9141:0.0	.	775;775;775;775;775;775;775	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	775;775;839;775;775;775;775;775	ENSP00000395654:G775D;ENSP00000350720:G775D;ENSP00000343896:G775D;ENSP00000445036:G775D;ENSP00000392837:G775D;ENSP00000397783:G775D;ENSP00000414727:G775D	ENSP00000343896:G775D	G	+	2	0	SMARCA4	10984674	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.657000	0.98554	1.223000	0.43536	0.655000	0.94253	GGC		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	18	0	0	0	1	0	8	18				
KRT13	3860	broad.mit.edu	37	17	39658806	39658806	+	Missense_Mutation	SNP	C	C	T	rs148296285	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39658806C>T	ENST00000246635.3	-	6	1110	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	KRT13_ENST00000587544.1_Missense_Mutation_p.R355H|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R355H|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	355	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAGGGCATAGCGGCACTCCGT	0.602																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(1063-1065)cGc>cAc		keratin 13		C	HIS/ARG,HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	113.0	97.0	102.0		1064,1064	4.4	1.0	17	dbSNP_134	102	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	KRT13	NM_002274.3,NM_153490.2	29,29	0,17,6486	TT,TC,CC		0.0465,0.2951,0.1307	probably-damaging,probably-damaging	355/421,355/459	39658806	17,12989	2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658806C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1064G>A	17.37:g.39658806C>T	ENSP00000246635:p.Arg355His					KRT13_ENST00000587544.1_Missense_Mutation_p.R355H|KRT13_ENST00000336861.3_Missense_Mutation_p.R355H	p.R355H	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			6	1110	-		Breast(137;0.000286)	355			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1064G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005772	0.93287	0.002951	4.65E-4	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.90385	-2.66;-2.66	4.45	4.45	0.53987	Filament (1);	0.000000	0.48286	D	0.000195	D	0.93291	0.7862	M	0.71871	2.18	0.80722	D	1	D;P;D	0.54047	0.964;0.956;0.964	P;P;P	0.54346	0.749;0.633;0.749	D	0.94206	0.7454	10	0.72032	D	0.01	.	17.6319	0.88111	0.0:1.0:0.0:0.0	.	355;355;355	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	H	355	ENSP00000246635:R355H;ENSP00000336604:R355H	ENSP00000246635:R355H	R	-	2	0	KRT13	36912332	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.889000	0.69766	2.460000	0.83146	0.478000	0.44815	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		4	97	0	0	0	1	0	4	97				
FBXW12	285231	broad.mit.edu	37	3	48414814	48414814	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48414814C>T	ENST00000296438.5	+	3	293	c.107C>T	c.(106-108)gCa>gTa	p.A36V	FBXW12_ENST00000445170.1_Missense_Mutation_p.A17V|FBXW12_ENST00000415155.1_Missense_Mutation_p.A36V|FBXW12_ENST00000436231.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	36	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AATAGGATTGCAGACAGTGAT	0.502																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(106-108)gCa>gTa		F-box and WD repeat domain containing 12							202.0	200.0	201.0					3																	48414814		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48414814C>T	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.107C>T	3.37:g.48414814C>T	ENSP00000296438:p.Ala36Val					FBXW12_ENST00000445170.1_Missense_Mutation_p.A17V|FBXW12_ENST00000415155.1_Missense_Mutation_p.A36V|FBXW12_ENST00000436231.1_Intron	p.A36V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	293	+			36			F-box.		E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.107C>T	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195385	0.58126	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.55930	0.49;1.88;0.49	2.82	2.82	0.32997	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.068752	0.56097	D	0.000024	T	0.71091	0.3299	M	0.85859	2.78	0.19775	N	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.60198	-0.7310	10	0.87932	D	0	.	9.3222	0.37971	0.0:1.0:0.0:0.0	.	17;36;36	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	V	36;17;36	ENSP00000296438:A36V;ENSP00000406139:A17V;ENSP00000414683:A36V	ENSP00000296438:A36V	A	+	2	0	FBXW12	48389818	0.083000	0.21467	0.374000	0.26016	0.133000	0.20885	2.261000	0.43276	1.895000	0.54865	0.460000	0.39030	GCA		0.502	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		32	50	0	0	0	1	0	32	50				
KIF7	374654	broad.mit.edu	37	15	90177027	90177027	+	Missense_Mutation	SNP	C	C	T	rs143915145	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90177027C>T	ENST00000394412.3	-	12	2558	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	828					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ATGAGCTGCACGTTCCGCTCG	0.647																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2482-2484)Gtg>Atg		kinesin family member 7		C	MET/VAL	0,4400		0,0,2200	48.0	45.0	46.0		2482	5.1	1.0	15	dbSNP_134	46	3,8595	3.0+/-9.4	0,3,4296	no	missense	KIF7	NM_198525.2	21	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	828/1344	90177027	3,12995	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90177027C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2482G>A	15.37:g.90177027C>T	ENSP00000377934:p.Val828Met						p.V828M	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		12	2558	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		828					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2482G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044856	0.75732	0.0	3.49E-4	ENSG00000166813	ENST00000394412	T	0.44482	0.92	5.12	5.12	0.69794	.	0.118924	0.56097	D	0.000026	T	0.59211	0.2177	M	0.72894	2.215	0.50632	D	0.999885	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.721	T	0.61739	-0.7001	10	0.59425	D	0.04	.	9.0903	0.36607	0.0:0.8277:0.0:0.1723	.	314;828	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	828	ENSP00000377934:V828M	ENSP00000377934:V828M	V	-	1	0	KIF7	87978031	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.643000	0.61390	2.378000	0.81104	0.491000	0.48974	GTG		0.647	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		8	12	0	0	0	1	0	8	12				
ACSL1	2180	broad.mit.edu	37	4	185687880	185687880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:185687880G>A	ENST00000515030.1	-	13	1484	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R353*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R216*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R216*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R387*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	387					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGAGCCATCGCTTCAGCGTG	0.488																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1159-1161)Cga>Tga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						101.0	95.0	97.0					4																	185687880		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185687880G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1159C>T	4.37:g.185687880G>A	ENSP00000422607:p.Arg387*					ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R216*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R387*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R353*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R216*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R387*	p.R387*			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	13	1484	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	387					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.1159C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	40	8.213263	0.98709	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.06	4.2	0.49525	.	0.163547	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5735	12.6955	0.57001	0.0:0.0:0.572:0.428	.	.	.	.	X	216;387;387;353;216;387;387	.	ENSP00000281455:R387X	R	-	1	2	ACSL1	185924874	0.259000	0.24043	1.000000	0.80357	0.976000	0.68499	1.240000	0.32731	1.093000	0.41377	0.655000	0.94253	CGA		0.488	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		13	45	0	0	0	1	0	13	45				
ZNF514	84874	broad.mit.edu	37	2	95818980	95818980	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:95818980C>T	ENST00000295208.2	-	3	481	c.19G>A	c.(19-21)Gct>Act	p.A7T	ZNF514_ENST00000411425.1_Missense_Mutation_p.A7T	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTCCACAGCCACATCTTCA	0.478																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(19-21)Gct>Act		zinc finger protein 514							70.0	68.0	69.0					2																	95818980		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95818980C>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.19G>A	2.37:g.95818980C>T	ENSP00000295208:p.Ala7Thr					ZNF514_ENST00000411425.1_Missense_Mutation_p.A7T	p.A7T	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			3	481	-			7			KRAB.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.19G>A	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747028	0.49257	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000447814	T;T;T	0.03065	4.06;4.06;4.06	2.96	1.98	0.26296	Krueppel-associated box (4);	.	.	.	.	T	0.04137	0.0115	L	0.49513	1.565	0.24012	N	0.996174	B	0.12630	0.006	B	0.10450	0.005	T	0.40327	-0.9569	9	0.62326	D	0.03	.	3.1395	0.06451	0.2501:0.5847:0.0:0.1652	.	7	Q96K75	ZN514_HUMAN	T	7;7;23	ENSP00000295208:A7T;ENSP00000405509:A7T;ENSP00000399647:A23T	ENSP00000295208:A7T	A	-	1	0	ZNF514	95182707	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	0.902000	0.28459	0.487000	0.27698	-0.345000	0.07892	GCT		0.478	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		20	31	0	0	0	1	0	20	31				
CSTF2T	23283	broad.mit.edu	37	10	53457674	53457674	+	Nonsense_Mutation	SNP	C	C	A	rs539295286	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457674C>A	ENST00000331173.4	-	1	1681	c.1636G>T	c.(1636-1638)Gga>Tga	p.G546*	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	546	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		tgtatacctcctccttgtata	0.547																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1636-1638)Gga>Tga		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							166.0	120.0	135.0					10																	53457674		2202	4300	6502	SO:0001587	stop_gained	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457674C>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1636G>T	10.37:g.53457674C>A	ENSP00000332444:p.Gly546*					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.G546*	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1681	-			546			9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	ENST00000331173.4	37	c.1636G>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097230	0.37048	.	.	ENSG00000177613	ENST00000331173	.	.	.	3.13	-0.0943	0.13645	.	0.905832	0.09060	N	0.854492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	4.8373	5.7048	0.17903	0.0:0.5971:0.0:0.4029	.	.	.	.	X	546	.	ENSP00000332444:G546X	G	-	1	0	CSTF2T	53127680	0.000000	0.05858	0.098000	0.21074	0.140000	0.21249	0.450000	0.21762	-0.015000	0.14150	0.563000	0.77884	GGA		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		5	9	1	0	0.000602214	1	0.000612743	5	9				
RASGRF2	5924	broad.mit.edu	37	5	80504231	80504231	+	Missense_Mutation	SNP	A	A	G	rs374914135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80504231A>G	ENST00000265080.4	+	22	3197	c.3130A>G	c.(3130-3132)Atg>Gtg	p.M1044V	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1044	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCTTACATTATGAAAACCAG	0.403																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3130-3132)Atg>Gtg		Ras protein-specific guanine nucleotide-releasing factor 2							78.0	72.0	74.0					5																	80504231		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80504231A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3130A>G	5.37:g.80504231A>G	ENSP00000265080:p.Met1044Val					CTC-281B15.1_ENST00000503483.2_RNA	p.M1044V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	22	3197	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1044			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3130A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102741	0.20632	.	.	ENSG00000113319	ENST00000265080	T	0.27890	1.64	5.67	4.5	0.54988	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.104279	0.85682	N	0.000000	T	0.19685	0.0473	N	0.17838	0.53	0.53688	D	0.999975	B	0.10296	0.003	B	0.11329	0.006	T	0.03829	-1.1000	10	0.34782	T	0.22	.	10.1421	0.42740	0.9163:0.0:0.0837:0.0	.	1044	O14827	RGRF2_HUMAN	V	1044	ENSP00000265080:M1044V	ENSP00000265080:M1044V	M	+	1	0	RASGRF2	80539987	1.000000	0.71417	0.983000	0.44433	0.081000	0.17604	7.378000	0.79679	0.970000	0.38263	0.528000	0.53228	ATG		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		8	27	0	0	0	1	0	8	27				
ACSL6	23305	broad.mit.edu	37	5	131323905	131323905	+	Missense_Mutation	SNP	C	C	T	rs368653510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131323905C>T	ENST00000379240.1	-	7	745	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	ACSL6_ENST00000543479.1_Missense_Mutation_p.V198M|ACSL6_ENST00000379246.1_Missense_Mutation_p.V209M|ACSL6_ENST00000357096.1_Missense_Mutation_p.V163M|ACSL6_ENST00000379249.3_Missense_Mutation_p.V198M|ACSL6_ENST00000379255.1_Missense_Mutation_p.V163M|ACSL6_ENST00000296869.4_Missense_Mutation_p.V223M|ACSL6_ENST00000379272.2_Missense_Mutation_p.V213M|ACSL6_ENST00000379264.2_Missense_Mutation_p.V223M|ACSL6_ENST00000431707.1_Missense_Mutation_p.V178M|ACSL6_ENST00000379244.1_Missense_Mutation_p.V198M|ACSL6_ENST00000544770.1_Missense_Mutation_p.V107M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	198					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACAATCACGGTGCTGATG	0.582																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(667-669)Gtg>Atg		acyl-CoA synthetase long-chain family member 6		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	222.0	210.0	214.0		667,562,592,625,487,667	5.6	1.0	5		214	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	21,21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	223/723,188/688,198/698,209/709,163/623,223/723	131323905	2,13004	2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131323905C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.592G>A	5.37:g.131323905C>T	ENSP00000368542:p.Val198Met					ACSL6_ENST00000379246.1_Missense_Mutation_p.V209M|ACSL6_ENST00000379272.2_Missense_Mutation_p.V213M|ACSL6_ENST00000379244.1_Missense_Mutation_p.V198M|ACSL6_ENST00000543479.1_Missense_Mutation_p.V198M|ACSL6_ENST00000544770.1_Missense_Mutation_p.V107M|ACSL6_ENST00000379255.1_Missense_Mutation_p.V163M|ACSL6_ENST00000431707.1_Missense_Mutation_p.V178M|ACSL6_ENST00000379249.3_Missense_Mutation_p.V198M|ACSL6_ENST00000379240.1_Missense_Mutation_p.V198M|ACSL6_ENST00000296869.4_Missense_Mutation_p.V223M|ACSL6_ENST00000357096.1_Missense_Mutation_p.V163M	p.V223M	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	775	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	198					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.667G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.331756	0.81801	0.0	2.33E-4	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.62	5.62	0.85841	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.988;1.0;0.998;0.999;0.999	D;P;P;D;P;D;D	0.77004	0.98;0.903;0.833;0.989;0.903;0.942;0.942	T	0.73845	-0.3854	10	0.87932	D	0	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	198;213;188;198;163;223;223	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	198;223;213;163;163;223;209;198;107;198;178;198;163;198	ENSP00000368551:V198M;ENSP00000368566:V223M;ENSP00000368574:V213M;ENSP00000349608:V163M;ENSP00000368557:V163M;ENSP00000296869:V223M;ENSP00000368548:V209M;ENSP00000368546:V198M;ENSP00000445154:V107M;ENSP00000368542:V198M;ENSP00000413329:V178M;ENSP00000442124:V198M;ENSP00000397507:V163M;ENSP00000398423:V198M	ENSP00000296869:V223M	V	-	1	0	ACSL6	131351804	1.000000	0.71417	0.992000	0.48379	0.483000	0.33249	7.587000	0.82613	2.811000	0.96726	0.555000	0.69702	GTG		0.582	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		68	102	0	0	0	1	0	68	102				
AHNAK2	113146	broad.mit.edu	37	14	105411299	105411299	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411299C>T	ENST00000333244.5	-	7	10608	c.10489G>A	c.(10489-10491)Gat>Aat	p.D3497N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3497						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACATCCAGCGAGGCC	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10489-10491)Gat>Aat		AHNAK nucleoprotein 2							159.0	172.0	168.0					14																	105411299		1960	4135	6095	SO:0001583	missense	113146					nucleus		g.chr14:105411299C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10489G>A	14.37:g.105411299C>T	ENSP00000353114:p.Asp3497Asn					AHNAK2_ENST00000557457.1_Intron	p.D3497N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10608	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3497					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10489G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428991	0.43122	.	.	ENSG00000185567	ENST00000333244	T	0.01265	5.08	3.62	3.62	0.41486	.	0.737978	0.10804	U	0.632380	T	0.04634	0.0126	L	0.54908	1.71	0.18873	N	0.999986	D	0.67145	0.996	P	0.60541	0.876	T	0.47911	-0.9080	10	0.25106	T	0.35	.	10.6538	0.45663	0.0:1.0:0.0:0.0	.	3497	Q8IVF2	AHNK2_HUMAN	N	3497	ENSP00000353114:D3497N	ENSP00000353114:D3497N	D	-	1	0	AHNAK2	104482344	0.001000	0.12720	0.011000	0.14972	0.003000	0.03518	0.462000	0.21956	1.861000	0.53984	0.313000	0.20887	GAT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	219	0	0	0	1	0	6	219				
FAM170A	340069	broad.mit.edu	37	5	118970052	118970052	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118970052G>A	ENST00000515256.1	+	3	781	c.609G>A	c.(607-609)ctG>ctA	p.L203L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	203					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L203L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGACAGCCTGCCAGGCTCAC	0.592																																						ENST00000515256.1																			1	Substitution - coding silent(1)	p.L203L(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(607-609)ctG>ctA		family with sequence similarity 170, member A							85.0	94.0	91.0					5																	118970052		2117	4230	6347	SO:0001819	synonymous_variant	340069					intracellular	zinc ion binding	g.chr5:118970052G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.609G>A	5.37:g.118970052G>A							p.L203L			A1A519	F170A_HUMAN			3	781	+			203					Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37	c.609G>A																																																																																					0.592	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		4	51	0	0	0	1	0	4	51				
CTDSPL	10217	broad.mit.edu	37	3	38012927	38012927	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38012927C>T	ENST00000273179.5	+	6	482	c.456C>T	c.(454-456)gaC>gaT	p.D152D	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Silent_p.D141D|MIR26A1_ENST00000362205.1_RNA	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	152	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CACATGTGGACGAGTTCCTCC	0.597																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(421-423)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							138.0	104.0	115.0					3																	38012927		2203	4300	6503	SO:0001819	synonymous_variant	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38012927C>T	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.456C>T	3.37:g.38012927C>T						CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.D152D	p.D141D	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	5	663	+		Melanoma(1037;0.0122)	152			FCP1 homology.		Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	c.423C>T	CCDS33734.1																																																																																				0.597	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		16	14	0	0	0	1	0	16	14				
RFTN2	130132	broad.mit.edu	37	2	198511274	198511274	+	Missense_Mutation	SNP	C	C	T	rs373512688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198511274C>T	ENST00000295049.4	-	2	792	c.256G>A	c.(256-258)Gtg>Atg	p.V86M		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	86					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGCTGCCCCACAGGTTGTATA	0.388																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(256-258)Gtg>Atg		raftlin family member 2		C	MET/VAL	0,4406		0,0,2203	144.0	144.0	144.0		256	3.6	0.6	2		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	RFTN2	NM_144629.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	86/502	198511274	1,13005	2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198511274C>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.256G>A	2.37:g.198511274C>T	ENSP00000295049:p.Val86Met						p.V86M	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			2	792	-			86					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.256G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125670	0.37533	0.0	1.16E-4	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.33438	1.41;1.41	5.41	3.56	0.40772	.	0.671364	0.14854	N	0.294478	T	0.24890	0.0604	L	0.47716	1.5	0.31863	N	0.620733	B	0.22146	0.065	B	0.21151	0.033	T	0.20107	-1.0285	10	0.41790	T	0.15	-1.5859	5.9819	0.19411	0.1537:0.6768:0.0:0.1695	.	86	Q52LD8	RFTN2_HUMAN	M	86	ENSP00000295049:V86M;ENSP00000398128:V86M	ENSP00000295049:V86M	V	-	1	0	RFTN2	198219519	0.000000	0.05858	0.634000	0.29324	0.995000	0.86356	-0.617000	0.05584	0.724000	0.32296	0.585000	0.79938	GTG		0.388	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		68	125	0	0	0	1	0	68	125				
INPP5A	3632	broad.mit.edu	37	10	134591246	134591246	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:134591246G>A	ENST00000368594.3	+	13	1326	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	350					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGTGACCGCATCCTCATG	0.652																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1048-1050)cGc>cAc		inositol polyphosphate-5-phosphatase, 40kDa							96.0	72.0	80.0					10																	134591246		2202	4297	6499	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134591246G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1049G>A	10.37:g.134591246G>A	ENSP00000357583:p.Arg350His					INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H	p.R350H	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	13	1326	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	350					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.1049G>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	32	5.128457	0.94473	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898;ENST00000445580	T;T;D	0.95272	-1.38;-1.38;-3.66	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.994;0.966;0.998	D	0.98737	1.0715	10	0.87932	D	0	-25.1995	17.3108	0.87210	0.0:0.0:1.0:0.0	.	293;350;350	F5GWM1;Q14642;Q5T1B5	.;I5P1_HUMAN;.	H	350;350;293;267;32	ENSP00000357583:R350H;ENSP00000357582:R350H;ENSP00000390749:R32H	ENSP00000357582:R350H	R	+	2	0	INPP5A	134441236	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	8.878000	0.92393	2.166000	0.68216	0.491000	0.48974	CGC		0.652	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		15	13	0	0	0	1	0	15	13				
MOGS	7841	broad.mit.edu	37	2	74688821	74688821	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74688821G>A	ENST00000233616.4	-	4	2257	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	MOGS_ENST00000452063.2_Silent_p.L593L|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	699					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGCAGTCGCAGCAGCAAGGGA	0.622																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2095-2097)Ctg>Ttg		mannosyl-oligosaccharide glucosidase							67.0	81.0	76.0					2																	74688821		2024	4189	6213	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688821G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2095C>T	2.37:g.74688821G>A						MOGS_ENST00000452063.2_Silent_p.L593L|MOGS_ENST00000409065.1_3'UTR	p.L699L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2257	-			699					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.2095C>T	CCDS42700.1																																																																																				0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		18	20	0	0	0	1	0	18	20				
CMYA5	202333	broad.mit.edu	37	5	79031252	79031252	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79031252A>G	ENST00000446378.2	+	2	6695	c.6664A>G	c.(6664-6666)Aca>Gca	p.T2222A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2222					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGAAGGTACAATTCCCAC	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6664-6666)Aca>Gca		cardiomyopathy associated 5							129.0	126.0	127.0					5																	79031252		1867	4105	5972	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031252A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6664A>G	5.37:g.79031252A>G	ENSP00000394770:p.Thr2222Ala						p.T2222A	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6695	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2222					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6664A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	4.035	0.003981	0.07866	.	.	ENSG00000164309	ENST00000446378	T	0.17213	2.29	6.16	-5.84	0.02318	.	1.492850	0.04002	N	0.296595	T	0.07503	0.0189	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.29397	-1.0013	10	0.13470	T	0.59	.	2.5534	0.04754	0.2455:0.2647:0.3707:0.1191	.	2222	Q8N3K9	CMYA5_HUMAN	A	2222	ENSP00000394770:T2222A	ENSP00000394770:T2222A	T	+	1	0	CMYA5	79067008	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.123000	0.01319	-0.835000	0.04234	0.528000	0.53228	ACA		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		43	48	0	0	0	1	0	43	48				
SYT14	255928	broad.mit.edu	37	1	210267703	210267703	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210267703T>C	ENST00000472886.1	+	5	493	c.479T>C	c.(478-480)cTg>cCg	p.L160P	SYT14_ENST00000367015.1_Missense_Mutation_p.L122P|SYT14_ENST00000422431.1_Missense_Mutation_p.L205P|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.L160P|SYT14_ENST00000537238.1_Missense_Mutation_p.L122P|SYT14_ENST00000534859.1_Missense_Mutation_p.L160P|SYT14_ENST00000399639.2_Missense_Mutation_p.L160P			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	160					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ACACCCCCGCTGGATGAATTG	0.438																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(364-366)cTg>cCg		synaptotagmin XIV							80.0	82.0	81.0					1																	210267703		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267703T>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.479T>C	1.37:g.210267703T>C	ENSP00000418901:p.Leu160Pro					SYT14_ENST00000422431.1_Missense_Mutation_p.L205P|SYT14_ENST00000534859.1_Missense_Mutation_p.L160P|SYT14_ENST00000472886.1_Missense_Mutation_p.L160P|SYT14_ENST00000399639.2_Missense_Mutation_p.L160P|SYT14_ENST00000367015.1_Missense_Mutation_p.L122P|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.L160P	p.L122P	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	756	+			160					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.365T>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252019	0.80135	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.20881	3.2;3.06;2.04;3.33;3.07;3.32;3.33	5.62	5.62	0.85841	.	0.357610	0.25241	N	0.032085	T	0.35740	0.0942	M	0.61703	1.905	0.80722	D	1	B;B;D;B	0.55385	0.021;0.006;0.971;0.063	B;B;P;B	0.55391	0.007;0.005;0.775;0.026	T	0.04454	-1.0950	10	0.23891	T	0.37	-6.3896	14.3668	0.66810	0.0:0.0:0.0:1.0	.	188;160;160;205	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	P	205;160;160;122;160;160;122	ENSP00000389039:L205P;ENSP00000442891:L160P;ENSP00000445837:L160P;ENSP00000437423:L122P;ENSP00000355986:L160P;ENSP00000418901:L160P;ENSP00000355982:L122P	ENSP00000355982:L122P	L	+	2	0	SYT14	208334326	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.516000	0.81772	2.140000	0.66376	0.482000	0.46254	CTG		0.438	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		25	27	0	0	0	1	0	25	27				
ROR2	4920	broad.mit.edu	37	9	94486292	94486292	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:94486292C>T	ENST00000375708.3	-	9	2682	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	828	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCCATAGGCCGGCACCGGCT	0.657																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2482-2484)ccG>ccA		receptor tyrosine kinase-like orphan receptor 2							47.0	57.0	54.0					9																	94486292		2203	4300	6503	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486292C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2484G>A	9.37:g.94486292C>T						ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.P828P	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2682	-			828			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2484G>A	CCDS6691.1																																																																																				0.657	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			11	22	0	0	0	1	0	11	22				
NOTCH1	4851	broad.mit.edu	37	9	139410012	139410012	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139410012C>A	ENST00000277541.6	-	11	1901	c.1826G>T	c.(1825-1827)aGc>aTc	p.S609I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	609	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGGCTGGCTGGAGCACTC	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1825-1827)aGc>aTc		notch 1							26.0	39.0	34.0					9																	139410012		2169	4276	6445	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410012C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1826G>T	9.37:g.139410012C>A	ENSP00000277541:p.Ser609Ile	HNSCC(8;0.001)					p.S609I	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1901	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	609			EGF-like 16; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1826G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503837	0.85176	.	.	ENSG00000148400	ENST00000277541	D	0.91577	-2.87	5.24	5.24	0.73138	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95484	0.8533	M	0.84433	2.695	0.80722	D	1	P	0.49862	0.929	P	0.62649	0.905	D	0.95888	0.8904	10	0.66056	D	0.02	.	17.8029	0.88593	0.0:1.0:0.0:0.0	.	609	P46531	NOTC1_HUMAN	I	609	ENSP00000277541:S609I	ENSP00000277541:S609I	S	-	2	0	NOTCH1	138529833	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.648000	0.83479	2.426000	0.82243	0.557000	0.71058	AGC		0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	12	1	0	1.08611e-07	1	1.14056e-07	9	12				
MAP3K1	4214	broad.mit.edu	37	5	56177976	56177976	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56177976G>A	ENST00000399503.3	+	14	2949	c.2949G>A	c.(2947-2949)ttG>ttA	p.L983L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	983					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAGCCTTGTCAACCCCTT	0.458																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(2947-2949)ttG>ttA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							127.0	124.0	125.0					5																	56177976		1903	4125	6028	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177976G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2949G>A	5.37:g.56177976G>A							p.L983L	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	2949	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	983						Silent	SNP	ENST00000399503.3	37	c.2949G>A	CCDS43318.1																																																																																				0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		28	28	0	0	0	1	0	28	28				
PROX1	5629	broad.mit.edu	37	1	214170503	214170503	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214170503C>T	ENST00000366958.4	+	2	1233	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	PROX1_ENST00000435016.1_Missense_Mutation_p.R209C|PROX1_ENST00000261454.4_Missense_Mutation_p.R209C|PROX1_ENST00000498508.2_Missense_Mutation_p.R209C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	209					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGAAAACAAACGCAAGCAAAA	0.517																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(625-627)Cgc>Tgc		prospero homeobox 1							41.0	46.0	45.0					1																	214170503		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170503C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.625C>T	1.37:g.214170503C>T	ENSP00000355925:p.Arg209Cys					PROX1_ENST00000498508.2_Missense_Mutation_p.R209C|PROX1_ENST00000435016.1_Missense_Mutation_p.R209C|PROX1_ENST00000261454.4_Missense_Mutation_p.R209C	p.R209C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1233	+			209					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.625C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817082	0.70912	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.03	6.03	0.97812	.	0.050223	0.85682	D	0.000000	T	0.51143	0.1657	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47471	-0.9115	10	0.87932	D	0	-3.8807	20.6398	0.99548	0.0:1.0:0.0:0.0	.	209	Q92786	PROX1_HUMAN	C	209	ENSP00000420283:R209C;ENSP00000355925:R209C;ENSP00000400694:R209C;ENSP00000261454:R209C	ENSP00000261454:R209C	R	+	1	0	PROX1	212237126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.975000	0.70475	2.881000	0.98747	0.650000	0.86243	CGC		0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		14	19	0	0	0	1	0	14	19				
SLC6A2	6530	broad.mit.edu	37	16	55727937	55727937	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55727937G>A	ENST00000379906.2	+	6	1189	c.934G>A	c.(934-936)Gca>Aca	p.A312T	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	312					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATTGATGCCGCAACTCAGAT	0.453																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(934-936)Gca>Aca		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						148.0	142.0	144.0					16																	55727937		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55727937G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.934G>A	16.37:g.55727937G>A	ENSP00000369237:p.Ala312Thr					SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T	p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	6	1189	+			312					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.934G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474824	0.43942	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75938	-0.98;-0.98;-0.98	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	M	0.88031	2.925	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.91031	0.4864	10	0.87932	D	0	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	312;26;207;312	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	T	312;26;312;312	ENSP00000394956:A312T;ENSP00000369237:A312T;ENSP00000219833:A312T	ENSP00000219833:A312T	A	+	1	0	SLC6A2	54285438	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.501000	0.97979	2.196000	0.70406	0.561000	0.74099	GCA		0.453	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			33	49	0	0	0	1	0	33	49				
NFE2L2	4780	broad.mit.edu	37	2	178096565	178096565	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178096565T>C	ENST00000397062.3	-	5	1320	c.766A>G	c.(766-768)Agc>Ggc	p.S256G	NFE2L2_ENST00000446151.2_Missense_Mutation_p.S233G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S240G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.S240G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	256					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAGGATGCTGCTGAAGGAA	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(766-768)Agc>Ggc		nuclear factor, erythroid 2-like 2							119.0	108.0	111.0					2																	178096565		1902	4139	6041	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096565T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.766A>G	2.37:g.178096565T>C	ENSP00000380252:p.Ser256Gly	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.S240G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.S233G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S240G	p.S256G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1320	-			256					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.766A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154277	0.57259	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000430047	T;T;T;T;T	0.52526	1.98;1.98;1.99;1.65;0.66	6.17	5.02	0.67125	.	0.345512	0.40469	N	0.001097	T	0.47097	0.1427	M	0.75264	2.295	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.41034	-0.9531	10	0.38643	T	0.18	.	9.7035	0.40200	0.0:0.1845:0.0:0.8155	.	233;256	E9PGJ7;Q16236	.;NF2L2_HUMAN	G	240;256;233;240;53	ENSP00000380253:S240G;ENSP00000380252:S256G;ENSP00000411575:S233G;ENSP00000400073:S240G;ENSP00000391291:S53G	ENSP00000380252:S256G	S	-	1	0	NFE2L2	177804811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.814000	0.48010	1.160000	0.42584	0.533000	0.62120	AGC		0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		27	42	0	0	0	1	0	27	42				
ZNF853	54753	broad.mit.edu	37	7	6662232	6662232	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6662232G>A	ENST00000457543.3	+	3	2168	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	537							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						ATCCACACGGGCGAGAAACCC	0.687																																						ENST00000457543.3																			0				endometrium(1)|kidney(1)	2						c.(1609-1611)gGc>gAc		zinc finger protein 853							11.0	16.0	14.0					7																	6662232		691	1587	2278	SO:0001583	missense	54753					intracellular	nucleic acid binding|zinc ion binding	g.chr7:6662232G>A	AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.1610G>A	7.37:g.6662232G>A	ENSP00000455585:p.Gly537Asp						p.G537D	NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN			3	2168	+			537						Missense_Mutation	SNP	ENST00000457543.3	37	c.1610G>A	CCDS59048.1																																																																																				0.687	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324169.2	NM_017560		4	1	0	0	0	1	0	4	1				
CTNNA1	1495	broad.mit.edu	37	5	138118999	138118999	+	Missense_Mutation	SNP	C	C	T	rs200135015		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138118999C>T	ENST00000302763.7	+	3	329	c.239C>T	c.(238-240)gCg>gTg	p.A80V	CTNNA1_ENST00000518825.1_Missense_Mutation_p.A80V|CTNNA1_ENST00000355078.5_Intron	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	80	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATAAAATTGCGAAGGAGAGC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(238-240)gCg>gTg		catenin (cadherin-associated protein), alpha 1, 102kDa							99.0	98.0	98.0					5																	138118999		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138118999C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.239C>T	5.37:g.138118999C>T	ENSP00000304669:p.Ala80Val					CTNNA1_ENST00000518825.1_Missense_Mutation_p.A80V|CTNNA1_ENST00000355078.5_Intron	p.A80V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	329	+			80			Involved in homodimerization.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.239C>T	CCDS34243.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	35	5.576436	0.96565	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000524127;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T;T	0.50001	1.34;1.34;1.34;1.54;1.34;0.76;1.54;0.76;0.76	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.74258	2.255	0.80722	D	1	P;D	0.52996	0.935;0.957	B;B	0.42495	0.168;0.389	T	0.57888	-0.7733	10	0.40728	T	0.16	-10.6819	19.4387	0.94809	0.0:1.0:0.0:0.0	.	80;80	G3XAM7;P35221	.;CTNA1_HUMAN	V	80	ENSP00000428439:A80V;ENSP00000429636:A80V;ENSP00000428049:A80V;ENSP00000430304:A80V;ENSP00000428202:A80V;ENSP00000304669:A80V;ENSP00000430078:A80V;ENSP00000429457:A80V;ENSP00000427821:A80V	ENSP00000304669:A80V	A	+	2	0	CTNNA1	138146898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.699000	0.92147	0.555000	0.69702	GCG		0.453	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		30	62	0	0	0	1	0	30	62				
PTPRF	5792	broad.mit.edu	37	1	44086637	44086637	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44086637G>T	ENST00000359947.4	+	32	5833	c.5493G>T	c.(5491-5493)caG>caT	p.Q1831H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1190H|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1831H|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1822H|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1822H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1831	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTTGGACAGGATGGGCCTA	0.622																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(5491-5493)caG>caT		protein tyrosine phosphatase, receptor type, F							86.0	74.0	78.0					1																	44086637		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086637G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5493G>T	1.37:g.44086637G>T	ENSP00000353030:p.Gln1831His					PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1831H|PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1822H|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1822H|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q1190H|PTPRF_ENST00000496447.1_3'UTR	p.Q1831H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			32	5833	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1831			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5493G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.6|20.6|20.6	4.014148|4.014148|4.014148	0.75161|0.75161|0.75161	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	.|D;D;D;D;D;D|.	.|0.83837|.	.|-1.77;-1.77;-1.77;-1.77;-1.77;-1.77|.	5.13|5.13|5.13	4.21|4.21|4.21	0.49690|0.49690|0.49690	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.53318|0.53318	.|0.1789|0.1789	L|L|L	0.31120|0.31120|0.31120	0.905|0.905|0.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;D;D;D;D|.	.|0.76494|.	.|0.079;0.997;0.998;0.995;0.999|.	.|B;D;D;D;D|.	.|0.91635|.	.|0.027;0.914;0.981;0.984;0.999|.	.|T|T	.|0.49661|0.49661	.|-0.8916|-0.8916	.|9|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	14.2703|14.2703|14.2703	0.66147|0.66147|0.66147	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.|.	.|1476;1190;1408;1822;1831|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	X|H|M	1215;1256|1831;1822;1831;1822;1190;903|1477	.|ENSP00000353030:Q1831H;ENSP00000398822:Q1822H;ENSP00000361491:Q1831H;ENSP00000361490:Q1822H;ENSP00000387885:Q1190H;ENSP00000361484:Q903H|.	.|ENSP00000353030:Q1831H|.	G|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43859224|43859224|43859224	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	3.749000|3.749000|3.749000	0.55150|0.55150|0.55150	1.473000|1.473000|1.473000	0.48159|0.48159|0.48159	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGA|CAG|AGG		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			11	15	1	0	3.86212e-05	1	3.97146e-05	11	15				
MED15	51586	broad.mit.edu	37	22	20940935	20940935	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20940935G>A	ENST00000263205.7	+	18	2380	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	MED15_ENST00000406969.1_Missense_Mutation_p.A705T|MED15_ENST00000425759.2_Missense_Mutation_p.A620T|MED15_ENST00000541476.1_Missense_Mutation_p.A705T|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.A660T|MED15_ENST00000292733.7_Missense_Mutation_p.A731T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	771					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CTCGGTCACCGCCTTGCTCAA	0.672																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2311-2313)Gcc>Acc		mediator complex subunit 15							61.0	58.0	59.0					22																	20940935		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20940935G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2311G>A	22.37:g.20940935G>A	ENSP00000263205:p.Ala771Thr					MED15_ENST00000541476.1_Missense_Mutation_p.A705T|MED15_ENST00000425759.2_Missense_Mutation_p.A620T|MED15_ENST00000292733.7_Missense_Mutation_p.A731T|MED15_ENST00000382974.2_Missense_Mutation_p.A660T|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.A705T	p.A771T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		18	2380	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	771					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2311G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483591	0.63962	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.67	5.67	0.87782	Mediator complex, subunit Med15, metazoa (1);	0.116944	0.56097	D	0.000022	T	0.69214	0.3086	L	0.52126	1.63	0.80722	D	1	D;D;B;D;B;D	0.89917	0.995;0.999;0.125;0.999;0.433;1.0	P;D;B;D;B;D	0.67103	0.83;0.949;0.019;0.915;0.049;0.949	T	0.66822	-0.5826	9	0.40728	T	0.16	.	15.2608	0.73621	0.0:0.0:1.0:0.0	.	701;750;387;705;731;771	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	T	620;731;771;705;660;705;701	.	ENSP00000263205:A771T	A	+	1	0	MED15	19270935	1.000000	0.71417	0.994000	0.49952	0.712000	0.41017	7.675000	0.84002	2.686000	0.91538	0.561000	0.74099	GCC		0.672	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		24	28	0	0	0	1	0	24	28				
TCF23	150921	broad.mit.edu	37	2	27372993	27372993	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(223-225)agC>agT		transcription factor 23							41.0	46.0	44.0					2																	27372993		2202	4300	6502	SO:0001819	synonymous_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372993C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.225C>T	2.37:g.27372993C>T							p.S75S	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	355	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		75					B2RNZ3	Silent	SNP	ENST00000296096.5	37	c.225C>T	CCDS33163.1																																																																																				0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		11	11	0	0	0	1	0	11	11				
HSD3B1	3283	broad.mit.edu	37	1	120056532	120056532	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120056532C>T	ENST00000369413.3	+	4	531	c.386C>T	c.(385-387)gCc>gTc	p.A129V	HSD3B1_ENST00000235547.6_Missense_Mutation_p.A131V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A129V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	129					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATAGAGGTAGCCGGGCCCAAC	0.512																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(391-393)gCc>gTc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						173.0	175.0	174.0					1																	120056532		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056532C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.386C>T	1.37:g.120056532C>T	ENSP00000358421:p.Ala129Val					HSD3B1_ENST00000369413.3_Missense_Mutation_p.A129V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A129V	p.A131V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	531	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	129					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.392C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620797	0.14193	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87412	-2.25;-2.25;-2.25	3.7	3.7	0.42460	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.349316	0.33382	N	0.004967	T	0.77974	0.4211	L	0.31476	0.935	0.38585	D	0.950276	B;D	0.76494	0.379;0.999	B;D	0.73708	0.124;0.981	T	0.77606	-0.2525	10	0.02654	T	1	-8.1817	7.2176	0.25969	0.0:0.8765:0.0:0.1235	.	131;129	Q5TDG2;P14060	.;3BHS1_HUMAN	V	129;131;129	ENSP00000358421:A129V;ENSP00000235547:A131V;ENSP00000432268:A129V	ENSP00000235547:A131V	A	+	2	0	HSD3B1	119858055	0.984000	0.35163	0.729000	0.30791	0.215000	0.24574	2.414000	0.44627	2.033000	0.60031	0.491000	0.48974	GCC		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		97	130	0	0	0	1	0	97	130				
SSPO	23145	broad.mit.edu	37	7	149486411	149486411	+	RNA	SNP	C	C	T	rs372779510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149486411C>T	ENST00000378016.2	+	0	4387							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGATGGACGCTGCCTGCC	0.682																																						ENST00000378016.2																			0													SCO-spondin		C		0,4400		0,0,2200	21.0	25.0	23.0		4391	2.7	0.6	7		23	1,8583		0,1,4291	no	coding-notMod3	SSPO	NM_198455.2		0,1,6491	TT,TC,CC		0.0116,0.0,0.0077			149486411	1,12983	2200	4292	6492			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486411C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486411C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4387	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	16	0	0	0	1	0	8	16				
TBC1D16	125058	broad.mit.edu	37	17	77914707	77914707	+	Missense_Mutation	SNP	C	C	T	rs187446235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77914707C>T	ENST00000310924.2	-	12	2370	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D	TBC1D16_ENST00000340848.7_Missense_Mutation_p.G390D|TBC1D16_ENST00000576768.1_Missense_Mutation_p.G377D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	752							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCCTTCTTGCCTTCCCTCAG	0.687																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(2254-2256)gGc>gAc		TBC1 domain family, member 16							16.0	14.0	14.0					17																	77914707		2198	4287	6485	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77914707C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.2255G>A	17.37:g.77914707C>T	ENSP00000309794:p.Gly752Asp					TBC1D16_ENST00000340848.7_Missense_Mutation_p.G390D|TBC1D16_ENST00000576768.1_Missense_Mutation_p.G377D	p.G752D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		12	2370	-	all_neural(118;0.167)		752					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.2255G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378688	0.61735	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.10668	3.15;2.85	4.79	4.79	0.61399	.	1.044460	0.07526	N	0.911364	T	0.19644	0.0472	M	0.63428	1.95	0.80722	D	1	D;D;P	0.56035	0.974;0.974;0.883	P;P;B	0.45310	0.476;0.476;0.36	T	0.05683	-1.0870	10	0.62326	D	0.03	-29.7832	13.5639	0.61806	0.0:0.8439:0.1561:0.0	.	752;752;390	Q8TBP0;B9A6L7;Q8N3Z4	TBC16_HUMAN;.;.	D	390;752	ENSP00000341517:G390D;ENSP00000309794:G752D	ENSP00000309794:G752D	G	-	2	0	TBC1D16	75529302	1.000000	0.71417	0.977000	0.42913	0.840000	0.47671	4.174000	0.58256	2.188000	0.69820	0.305000	0.20034	GGC		0.687	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	8	0	0	0	1	0	3	8				
NLRC3	197358	broad.mit.edu	37	16	3613607	3613607	+	RNA	SNP	G	G	A	rs540032572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3613607G>A	ENST00000301749.7	-	0	1736				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGATGCCAACGTCTCCTCTCT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20581	0.0		0.0	False		,,,				2504	0.0					ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							46.0	47.0	47.0					16																	3613607		2065	4199	6264			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613607G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613607G>A						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1736	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	G	9.303	1.053514	0.19907	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.35	4.39	0.52855	.	0.242018	0.35466	N	0.003199	D	0.85522	0.5716	.	.	.	0.22975	N	0.998487	P	0.40107	0.703	P	0.46339	0.513	T	0.78853	-0.2040	9	0.52906	T	0.07	.	13.8484	0.63481	0.0:0.1543:0.8457:0.0	.	491	C9JLH9	.	M	444;444;444;491;426	ENSP00000301749:T444M;ENSP00000352039:T444M;ENSP00000414415:T491M;ENSP00000323897:T426M	ENSP00000301749:T444M	T	-	2	0	NLRC3	3553608	0.777000	0.28628	0.833000	0.33012	0.379000	0.30106	1.444000	0.35068	1.244000	0.43870	0.655000	0.94253	ACG		0.572	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		7	14	0	0	0	1	0	7	14				
CTSL	1514	broad.mit.edu	37	9	90345356	90345356	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90345356G>A	ENST00000343150.5	+	7	1735	c.845G>A	c.(844-846)gGc>gAc	p.G282D	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.G282D			P07711	CATL1_HUMAN	cathepsin L	282					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CTGGTGGTTGGCTACGGATTT	0.413																																						ENST00000343150.5																			0											c.(844-846)gGc>gAc		cathepsin L							123.0	114.0	117.0					9																	90345356		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90345356G>A	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.845G>A	9.37:g.90345356G>A	ENSP00000345344:p.Gly282Asp					CTSL_ENST00000340342.6_Missense_Mutation_p.G282D|CTSL_ENST00000495822.1_3'UTR	p.G282D							7	1735	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.845G>A	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047985	0.75846	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	D;D	0.82893	-1.66;-1.66	4.42	4.42	0.53409	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98452	1.0592	10	0.87932	D	0	.	17.2099	0.86928	0.0:0.0:1.0:0.0	.	282	P07711	CATL1_HUMAN	D	282	ENSP00000345344:G282D;ENSP00000365061:G282D	ENSP00000365061:G282D	G	+	2	0	CTSL1	89535176	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	8.626000	0.90969	2.279000	0.76181	0.591000	0.81541	GGC		0.413	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		19	34	0	0	0	1	0	19	34				
MTHFD2	10797	broad.mit.edu	37	2	74441226	74441226	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74441226T>C	ENST00000394053.2	+	8	990	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	MTHFD2_ENST00000409601.1_Missense_Mutation_p.Y221H|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Missense_Mutation_p.Y140H|MTHFD2_ENST00000264090.4_Missense_Mutation_p.Y202H|SLC4A5_ENST00000483195.1_5'Flank|MTHFD2_ENST00000409804.1_Missense_Mutation_p.Y176H	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	304					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	AAAAGCTGGGTATATCACTCC	0.423																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(910-912)Tat>Cat		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						106.0	115.0	112.0					2																	74441226		2055	4226	6281	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441226T>C	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.910T>C	2.37:g.74441226T>C	ENSP00000377617:p.Tyr304His					MTHFD2_ENST00000264090.4_Missense_Mutation_p.Y202H|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.Y221H|MTHFD2_ENST00000394050.3_Missense_Mutation_p.Y140H|MTHFD2_ENST00000409804.1_Missense_Mutation_p.Y176H	p.Y304H	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			8	990	+			304					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.910T>C	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815611	0.32145	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;1.88	5.58	5.58	0.84498	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.232106	0.45361	D	0.000370	T	0.33731	0.0873	N	0.05510	-0.035	0.51767	D	0.999932	B;B	0.17038	0.02;0.008	B;B	0.24006	0.05;0.029	T	0.16988	-1.0384	10	0.22706	T	0.39	.	14.0158	0.64523	0.0:0.0:0.0:1.0	.	221;304	B8ZZU9;P13995	.;MTDC_HUMAN	H	304;176;202;140;221	ENSP00000377617:Y304H;ENSP00000386536:Y176H;ENSP00000264090:Y202H;ENSP00000377614:Y140H;ENSP00000386542:Y221H	ENSP00000264090:Y202H	Y	+	1	0	MTHFD2	74294734	1.000000	0.71417	0.910000	0.35882	0.304000	0.27724	5.933000	0.70130	2.269000	0.75478	0.533000	0.62120	TAT		0.423	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			46	76	0	0	0	1	0	46	76				
SDK2	54549	broad.mit.edu	37	17	71384170	71384170	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71384170G>A	ENST00000392650.3	-	30	4199	c.4199C>T	c.(4198-4200)cCg>cTg	p.P1400L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1400L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1400					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGGGGCTGCGGACGGTCTGG	0.687																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4198-4200)cCg>cTg		sidekick cell adhesion molecule 2							8.0	8.0	8.0					17																	71384170		2171	4242	6413	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71384170G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4199C>T	17.37:g.71384170G>A	ENSP00000376421:p.Pro1400Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.P1400L	p.P1400L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			30	4199	-			1400			Fibronectin type-III 9.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4199C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562397	0.86335	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	D;D;D	0.86432	-2.12;-2.12;-2.12	4.82	4.82	0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97774	1.0228	10	0.72032	D	0.01	.	17.478	0.87666	0.0:0.0:1.0:0.0	.	1400;1400;1400	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1024;1400;1400;576;1400	ENSP00000376421:P1400L;ENSP00000373378:P1400L;ENSP00000407098:P576L	ENSP00000324967:P1400L	P	-	2	0	SDK2	68895765	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	8.895000	0.92512	2.228000	0.72767	0.462000	0.41574	CCG		0.687	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	4	0	0	0	1	0	3	4				
CRACR2A	84766	broad.mit.edu	37	12	3763443	3763443	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:3763443C>A	ENST00000252322.1	-	10	1449	c.981G>T	c.(979-981)caG>caT	p.Q327H	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Q327H|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327H	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		327					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAGCATCCTGGAGCTCCC	0.552																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(979-981)caG>caT		EF-hand calcium binding domain 4B							75.0	71.0	72.0					12																	3763443		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3763443C>A																												ENST00000252322.1:c.981G>T	12.37:g.3763443C>A	ENSP00000252322:p.Gln327His					EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327H|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Q327H	p.Q327H	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		10	1454	-			327					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.981G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	3.270	-0.149379	0.06585	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62364	0.03;2.48;2.48	4.27	3.36	0.38483	.	1.053770	0.07343	N	0.881106	T	0.60983	0.2311	L	0.50333	1.59	0.09310	N	1	B;P;P	0.41569	0.006;0.755;0.553	B;P;B	0.44946	0.006;0.465;0.204	T	0.53676	-0.8405	10	0.54805	T	0.06	-5.5809	6.7622	0.23546	0.0:0.7906:0.0:0.2094	.	327;327;327	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	H	327	ENSP00000409382:Q327H;ENSP00000412496:Q327H;ENSP00000252322:Q327H	ENSP00000252322:Q327H	Q	-	3	2	EFCAB4B	3633704	0.000000	0.05858	0.407000	0.26434	0.014000	0.08584	0.295000	0.19065	2.211000	0.71520	0.462000	0.41574	CAG		0.552	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			6	40	1	0	3.59834e-05	1	3.7043e-05	6	40				
DMGDH	29958	broad.mit.edu	37	5	78329225	78329225	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78329225G>A	ENST00000255189.3	-	8	1228	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	DMGDH_ENST00000540686.1_Silent_p.G20G|DMGDH_ENST00000380311.4_Silent_p.G199G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	400					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CGTGGATTATGCCATATCTTT	0.388																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1198-1200)ggC>ggT		dimethylglycine dehydrogenase							150.0	143.0	145.0					5																	78329225		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78329225G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1200C>T	5.37:g.78329225G>A						DMGDH_ENST00000380311.4_Silent_p.G199G|DMGDH_ENST00000540686.1_Silent_p.G20G	p.G400G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	8	1228	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	400					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1200C>T	CCDS4044.1																																																																																				0.388	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		45	47	0	0	0	1	0	45	47				
ZNF57	126295	broad.mit.edu	37	19	2917987	2917987	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2917987C>A	ENST00000306908.5	+	4	1516	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A424A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAGGCCTTTACCTCTT	0.438																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1366-1368)gcC>gcA		zinc finger protein 57							115.0	103.0	107.0					19																	2917987		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917987C>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1368C>A	19.37:g.2917987C>A						AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A424A	p.A456A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1516	+			456					Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.1368C>A	CCDS12098.1																																																																																				0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		26	49	1	0	2.48779e-11	1	2.67617e-11	26	49				
NPDC1	56654	broad.mit.edu	37	9	139937391	139937391	+	Missense_Mutation	SNP	G	G	A	rs374659308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139937391G>A	ENST00000371601.4	-	2	460	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	NPDC1_ENST00000371600.3_Missense_Mutation_p.R161C|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	83						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGAGGCCGGCGCATCCTGGGC	0.657																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(481-483)Cgc>Tgc		neural proliferation, differentiation and control, 1		G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	39.0	39.0	39.0		247	3.6	0.0	9		39	0,8598		0,0,4299	no	missense	NPDC1	NM_015392.3	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	83/326	139937391	1,13001	2202	4299	6501	SO:0001583	missense	56654					integral to membrane		g.chr9:139937391G>A	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.247C>T	9.37:g.139937391G>A	ENSP00000360660:p.Arg83Cys					NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Missense_Mutation_p.R83C	p.R161C			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	1	1153	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	83			Pro/Ser/Thr-rich.		Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP	ENST00000371601.4	37	c.481C>T	CCDS7024.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582319	0.65992	2.27E-4	0.0	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	4.55	3.64	0.41730	.	0.382752	0.20080	U	0.099678	T	0.50429	0.1615	L	0.46157	1.445	0.09310	N	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.974	P;P;D;P	0.64506	0.683;0.567;0.926;0.567	T	0.31503	-0.9941	9	0.72032	D	0.01	-20.1297	7.5591	0.27841	0.117:0.0:0.883:0.0	.	83;83;161;83	Q8WXX4;Q9NQX5;Q5SPY9;Q8NCE1	.;NPDC1_HUMAN;.;.	C	161;83	.	ENSP00000360659:R161C	R	-	1	0	NPDC1	139057212	0.082000	0.21442	0.004000	0.12327	0.173000	0.22820	2.783000	0.47766	2.079000	0.62486	0.561000	0.74099	CGC		0.657	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		8	17	0	0	0	1	0	8	17				
AARS2	57505	broad.mit.edu	37	6	44272399	44272399	+	Missense_Mutation	SNP	C	C	T	rs371157508		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44272399C>T	ENST00000244571.4	-	12	1737	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCGCACCAGGTAGCCA	0.632											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1735-1737)Gtg>Atg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						61.0	57.0	59.0					6																	44272399		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272399C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1735G>A	6.37:g.44272399C>T	ENSP00000244571:p.Val579Met		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.V579M	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1737	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		579						Missense_Mutation	SNP	ENST00000244571.4	37	c.1735G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514441	0.64522	.	.	ENSG00000124608	ENST00000244571	T	0.71934	-0.61	5.87	1.53	0.23141	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.233287	0.41823	D	0.000804	T	0.67097	0.2857	M	0.73598	2.24	0.36496	D	0.868733	P	0.51147	0.942	P	0.55455	0.776	T	0.69018	-0.5256	10	0.66056	D	0.02	-13.0889	6.1834	0.20484	0.2598:0.5552:0.0:0.185	.	579	Q5JTZ9	SYAM_HUMAN	M	579	ENSP00000244571:V579M	ENSP00000244571:V579M	V	-	1	0	AARS2	44380377	0.093000	0.21703	0.941000	0.38009	0.908000	0.53690	0.638000	0.24674	0.785000	0.33685	0.511000	0.50034	GTG		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		8	30	0	0	0	1	0	8	30				
SIPA1L1	26037	broad.mit.edu	37	14	72171492	72171492	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72171492A>T	ENST00000555818.1	+	13	4049	c.3701A>T	c.(3700-3702)gAa>gTa	p.E1234V	SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000358550.2_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000537413.1_Intron	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1234					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGCAGCATGAATATACAGGT	0.398																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3700-3702)gAa>gTa		signal-induced proliferation-associated 1 like 1							99.0	94.0	95.0					14																	72171492		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72171492A>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3701A>T	14.37:g.72171492A>T	ENSP00000450832:p.Glu1234Val					SIPA1L1_ENST00000358550.2_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000537413.1_Intron	p.E1234V	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	13	4049	+			1234					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3701A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683375	0.29872	.	.	ENSG00000197555	ENST00000555818	T	0.54479	0.57	5.73	5.73	0.89815	.	0.248445	0.32343	N	0.006227	T	0.42040	0.1185	L	0.43152	1.355	0.80722	D	1	P;P	0.48911	0.917;0.917	B;B	0.41135	0.348;0.348	T	0.31971	-0.9924	10	0.10377	T	0.69	-19.3194	12.4131	0.55478	1.0:0.0:0.0:0.0	.	1234;1234	A6H8W6;O43166	.;SI1L1_HUMAN	V	1234	ENSP00000450832:E1234V	ENSP00000351352:E1234V	E	+	2	0	SIPA1L1	71241245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.185000	0.69588	0.460000	0.39030	GAA		0.398	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		12	41	0	0	0	1	0	12	41				
CLIP1	6249	broad.mit.edu	37	12	122803805	122803805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122803805G>A	ENST00000540338.1	-	17	3381	c.3340C>T	c.(3340-3342)Caa>Taa	p.Q1114*	CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q1068*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.Q689*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q992*			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1114					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCATTTGTTTGCTTGGTGTCC	0.403																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3307-3309)Caa>Taa		CAP-GLY domain containing linker protein 1							204.0	175.0	185.0					12																	122803805		2203	4300	6503	SO:0001587	stop_gained	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803805G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3340C>T	12.37:g.122803805G>A	ENSP00000439093:p.Gln1114*					CLIP1_ENST00000545889.1_Nonsense_Mutation_p.Q689*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q1103*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.Q1114*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q1068*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q992*	p.Q1103*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3461	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1114					A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	ENST00000540338.1	37	c.3307C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	43	9.839211	0.99276	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	.	.	.	5.34	5.34	0.76211	.	0.325941	0.33346	N	0.005006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-15.5483	17.5802	0.87965	0.0:0.0:1.0:0.0	.	.	.	.	X	689;1103;1103;833;145;1068;1114	.	ENSP00000303585:Q1103X	Q	-	1	0	CLIP1	121369758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.060000	0.64312	2.658000	0.90341	0.563000	0.77884	CAA		0.403	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		20	34	0	0	0	1	0	20	34				
NOVA1	4857	broad.mit.edu	37	14	26949206	26949206	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:26949206C>T	ENST00000344429.5	-	3	427	c.424G>A	c.(424-426)Gtt>Att	p.V142I	NOVA1_ENST00000465357.2_Missense_Mutation_p.V142I|NOVA1_ENST00000539517.2_Missense_Mutation_p.V142I|NOVA1_ENST00000267422.7_Missense_Mutation_p.V20I|NOVA1_ENST00000574031.1_Missense_Mutation_p.V142I|NOVA1_ENST00000547619.1_Missense_Mutation_p.V142I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	145					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTGGATTAACGGTGGTCTGG	0.398																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(424-426)Gtt>Att		neuro-oncological ventral antigen 1							220.0	187.0	198.0					14																	26949206		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949206C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.424G>A	14.37:g.26949206C>T	ENSP00000342387:p.Val142Ile					NOVA1_ENST00000465357.2_Missense_Mutation_p.V142I|NOVA1_ENST00000547619.1_Missense_Mutation_p.V142I|NOVA1_ENST00000344429.5_Missense_Mutation_p.V142I|NOVA1_ENST00000267422.7_Missense_Mutation_p.V20I|NOVA1_ENST00000574031.1_Missense_Mutation_p.V142I	p.V142I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	741	-			145					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.424G>A	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755664	0.69648	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.63417	-0.04;1.47;1.42;1.52;-0.04;0.92;0.97;0.91;0.84	5.61	5.61	0.85477	.	0.205916	0.34067	N	0.004299	T	0.63022	0.2476	N	0.14661	0.345	0.54753	D	0.999985	B;B;D;D	0.57899	0.326;0.293;0.968;0.981	B;B;P;P	0.62184	0.05;0.015;0.796;0.899	T	0.58624	-0.7604	10	0.16896	T	0.51	-28.7915	19.6334	0.95719	0.0:1.0:0.0:0.0	.	142;145;142;142	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	I	142;142;20;101;20;20;105;142;142	ENSP00000447391:V142I;ENSP00000438875:V142I;ENSP00000267422:V20I;ENSP00000408914:V101I;ENSP00000299472:V20I;ENSP00000449113:V20I;ENSP00000449185:V105I;ENSP00000342387:V142I;ENSP00000448157:V142I	ENSP00000267422:V20I	V	-	1	0	NOVA1	26019046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.629000	0.89072	0.585000	0.79938	GTT		0.398	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		38	86	0	0	0	1	0	38	86				
CACNA2D1	781	broad.mit.edu	37	7	81626555	81626555	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:81626555A>T	ENST00000356253.5	-	20	1914	c.1659T>A	c.(1657-1659)tcT>tcA	p.S553S	CACNA2D1_ENST00000356860.3_Silent_p.S534S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	553	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTGGCTCCTGAGATTTGGGGT	0.343																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1600-1602)tcT>tcA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						161.0	160.0	160.0					7																	81626555		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81626555A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1659T>A	7.37:g.81626555A>T						CACNA2D1_ENST00000356253.5_Silent_p.S553S	p.S534S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			19	1940	-			553			Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.1602T>A																																																																																					0.343	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				37	54	0	0	0	1	0	37	54				
AP4M1	9179	broad.mit.edu	37	7	99704333	99704333	+	Missense_Mutation	SNP	C	C	T	rs573143488		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99704333C>T	ENST00000359593.4	+	15	1348	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	AP4M1_ENST00000429084.1_Missense_Mutation_p.A404V|AP4M1_ENST00000421755.1_Missense_Mutation_p.A397V|AP4M1_ENST00000422582.1_Missense_Mutation_p.A269V	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	397	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCACCTCGGCCTCTCCTCTG	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13303	0.0		0.0	False		,,,				2504	0.0				Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1210-1212)gCc>gTc		adaptor-related protein complex 4, mu 1 subunit							46.0	47.0	46.0					7																	99704333		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704333C>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1190C>T	7.37:g.99704333C>T	ENSP00000352603:p.Ala397Val					AP4M1_ENST00000422582.1_Missense_Mutation_p.A269V|AP4M1_ENST00000359593.4_Missense_Mutation_p.A397V|AP4M1_ENST00000421755.1_Missense_Mutation_p.A397V	p.A404V			O00189	AP4M1_HUMAN			15	1369	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		397			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1211C>T	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654718	0.67472	.	.	ENSG00000221838	ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.73	4.73	0.59995	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	L	0.59436	1.845	0.54753	D	0.999987	B;P;P	0.43826	0.316;0.666;0.818	B;B;B	0.39465	0.203;0.3;0.3	T	0.77627	-0.2517	10	0.59425	D	0.04	-5.4331	13.0438	0.58915	0.0:1.0:0.0:0.0	.	349;404;397	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	V	404;397;397;269	ENSP00000403663:A404V;ENSP00000352603:A397V;ENSP00000412185:A397V;ENSP00000406676:A269V	ENSP00000352603:A397V	A	+	2	0	AP4M1	99542269	0.959000	0.32827	0.455000	0.27031	0.731000	0.41821	3.219000	0.51200	2.451000	0.82905	0.561000	0.74099	GCC		0.672	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		20	22	0	0	0	1	0	20	22				
NPEPL1	79716	broad.mit.edu	37	20	57289700	57289700	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57289700C>A	ENST00000356091.6	+	11	1675	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	NPEPL1_ENST00000525967.1_Missense_Mutation_p.L435M|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.L415M	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	463						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTGGGTCCACCTGGACATTGC	0.657																																						ENST00000356091.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(1387-1389)Ctg>Atg		aminopeptidase-like 1							66.0	78.0	73.0					20																	57289700		2201	4296	6497	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57289700C>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1387C>A	20.37:g.57289700C>A	ENSP00000348395:p.Leu463Met					STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.L415M|NPEPL1_ENST00000525967.1_Missense_Mutation_p.L435M	p.L463M	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		11	1675	+	all_lung(29;0.0175)		463					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.1387C>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388710	0.61956	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.56941	0.43;0.43;0.43	5.58	2.49	0.30216	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.234256	0.37348	N	0.002136	T	0.50086	0.1595	L	0.51422	1.61	0.35194	D	0.773614	P;P;P	0.41498	0.752;0.488;0.619	P;B;B	0.48488	0.579;0.443;0.409	T	0.59306	-0.7479	10	0.66056	D	0.02	-9.5656	4.6274	0.12484	0.1517:0.5091:0.261:0.0783	.	463;415;435	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	M	435;415;463	ENSP00000434810:L435M;ENSP00000437112:L415M;ENSP00000348395:L463M	ENSP00000348395:L463M	L	+	1	2	NPEPL1	56723107	0.994000	0.37717	1.000000	0.80357	0.856000	0.48823	2.091000	0.41691	0.684000	0.31448	0.650000	0.86243	CTG		0.657	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		3	2	1	0	1	1	1	3	2				
ROPN1B	152015	broad.mit.edu	37	3	125694467	125694467	+	Missense_Mutation	SNP	G	G	A	rs138282395	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125694467G>A	ENST00000514116.1	+	4	493	c.178G>A	c.(178-180)Gct>Act	p.A60T	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.A60T|ROPN1B_ENST00000511082.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	60					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TGAGCGAGTCGCTTTGTGTAA	0.512																																						ENST00000514116.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(178-180)Gct>Act		rhophilin associated tail protein 1B		A	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	110.0	99.0	103.0		178	-4.5	0.0	3	dbSNP_134	103	0,8600		0,0,4300	no	missense	ROPN1B	NM_001012337.1	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	60/213	125694467	2,13004	2203	4300	6503	SO:0001583	missense	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125694467G>A	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.178G>A	3.37:g.125694467G>A	ENSP00000426271:p.Ala60Thr					ROPN1B_ENST00000251776.4_Missense_Mutation_p.A60T|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR	p.A60T			Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	493	+			60					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.178G>A	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.550273	0.00140	4.54E-4	0.0	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000513830;ENST00000508088	T;T;T;T	0.42900	0.96;0.96;1.55;0.96	2.76	-4.49	0.03504	.	1.573170	0.03393	N	0.202124	T	0.12178	0.0296	N	0.01874	-0.695	0.23204	N	0.998122	B;B	0.13145	0.007;0.007	B;B	0.08055	0.001;0.003	T	0.15122	-1.0448	10	0.06625	T	0.88	-24.3895	0.9433	0.01360	0.2621:0.3484:0.2258:0.1637	.	60;60	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	T	60	ENSP00000426271:A60T;ENSP00000251776:A60T;ENSP00000425548:A60T;ENSP00000423058:A60T	ENSP00000251776:A60T	A	+	1	0	ROPN1B	127177157	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-1.507000	0.02268	-0.810000	0.04375	-0.795000	0.03280	GCT		0.512	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		13	21	0	0	0	1	0	13	21				
GAD2	2572	broad.mit.edu	37	10	26562621	26562621	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26562621C>T	ENST00000376261.3	+	11	1652	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	GAD2_ENST00000259271.3_Silent_p.G383G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	383					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AACTGAGTGGCGTGGAGAGGT	0.383																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1147-1149)ggC>ggT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						124.0	118.0	120.0					10																	26562621		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26562621C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1149C>T	10.37:g.26562621C>T						GAD2_ENST00000259271.3_Silent_p.G383G	p.G383G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			11	1652	+			383					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1149C>T	CCDS7149.1																																																																																				0.383	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		19	34	0	0	0	1	0	19	34				
THOC7	80145	broad.mit.edu	37	3	63823673	63823673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63823673G>A	ENST00000295899.5	-	4	443	c.331C>T	c.(331-333)Cga>Tga	p.R111*	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	111	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTTCGTATTCGTTTTGCTTGA	0.333																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(331-333)Cga>Tga		THO complex 7 homolog (Drosophila)							179.0	167.0	171.0					3																	63823673		2203	4299	6502	SO:0001587	stop_gained	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63823673G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.331C>T	3.37:g.63823673G>A	ENSP00000295899:p.Arg111*					C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	p.R111*	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	4	443	-			111			Interaction with NIF3L1.|Interaction with THOC5.		Q6P1L3|Q8WUF2|Q9H5H0	Nonsense_Mutation	SNP	ENST00000295899.5	37	c.331C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453533	0.84209	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.07	5.2	0.72013	.	0.053637	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-17.1899	14.7329	0.69397	0.0:0.0:0.6864:0.3136	.	.	.	.	X	111	.	ENSP00000295899:R111X	R	-	1	2	THOC7	63798713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.599000	0.54045	1.566000	0.49654	0.655000	0.94253	CGA		0.333	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		34	52	0	0	0	1	0	34	52				
LRP3	4037	broad.mit.edu	37	19	33696659	33696659	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33696659G>A	ENST00000253193.7	+	5	1185	c.983G>A	c.(982-984)cGc>cAc	p.R328H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	328	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTGTCCTACCGCAGCAACCAC	0.716																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(982-984)cGc>cAc		low density lipoprotein receptor-related protein 3							7.0	10.0	9.0					19																	33696659		2110	4158	6268	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696659G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.983G>A	19.37:g.33696659G>A	ENSP00000253193:p.Arg328His						p.R328H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1185	+	Esophageal squamous(110;0.137)		328			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.983G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118524	0.20877	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.51071	0.72	5.02	5.02	0.67125	CUB (5);	0.061464	0.64402	D	0.000002	T	0.23289	0.0563	N	0.10874	0.06	0.36060	D	0.841357	B;B;B	0.26363	0.147;0.001;0.079	B;B;B	0.20184	0.028;0.001;0.009	T	0.26258	-1.0108	10	0.14656	T	0.56	-42.6977	7.3576	0.26727	0.1889:0.0:0.8111:0.0	.	202;328;246	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	H	202;328	ENSP00000253193:R328H	ENSP00000253193:R328H	R	+	2	0	LRP3	38388499	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.021000	0.49651	2.341000	0.79615	0.313000	0.20887	CGC		0.716	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			4	3	0	0	0	1	0	4	3				
IGLV11-55	28770	broad.mit.edu	37	22	22556253	22556253	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22556253C>T	ENST00000390286.2	+	0	79									immunoglobulin lambda variable 11-55 (non-functional)																		CCGGCCCGTGCTGACTCAGCC	0.607											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390286.2																			0																				28.0	33.0	31.0					22																	22556253		2113	4239	6352			0							g.chr22:22556253C>T	D86996		22q11.2	2012-02-08	2008-09-15		ENSG00000211641	ENSG00000211641		"""Immunoglobulins / IGL locus"""	5886	other	immunoglobulin gene			"""immunoglobulin lambda variable 11-55"""				Standard	NG_000002		Approved				OTTHUMG00000150995		22.37:g.22556253C>T			OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757									0	79	+									RNA	SNP	ENST00000390286.2	37																																																																																						0.607	IGLV11-55-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320860.3	NG_000002		9	21	0	0	0	1	0	9	21				
CNPY3	10695	broad.mit.edu	37	6	42905909	42905909	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42905909C>A	ENST00000372836.4	+	5	948	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	193	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GACTGAATTCCTCTGCGCCAA	0.527																																						ENST00000372836.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(577-579)Ctc>Atc		canopy FGF signaling regulator 3							169.0	152.0	158.0					6																	42905909		2203	4300	6503	SO:0001583	missense	10695				innate immune response	endoplasmic reticulum		g.chr6:42905909C>A	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.577C>A	6.37:g.42905909C>A	ENSP00000361926:p.Leu193Ile					CNPY3_ENST00000394142.3_3'UTR	p.L193I	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		5	948	+	Colorectal(47;0.196)		193			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	c.577C>A	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150367	0.78001	.	.	ENSG00000137161	ENST00000372836	T	0.59638	0.25	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000001	T	0.69459	0.3113	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.73049	-0.4105	10	0.62326	D	0.03	-18.386	15.2676	0.73675	0.0:1.0:0.0:0.0	.	193	Q9BT09	CNPY3_HUMAN	I	193	ENSP00000361926:L193I	ENSP00000361926:L193I	L	+	1	0	CNPY3	43013887	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.266000	0.58871	2.328000	0.79073	0.462000	0.41574	CTC		0.527	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		31	38	1	0	5.91797e-21	1	6.56533e-21	31	38				
CDH11	1009	broad.mit.edu	37	16	64984908	64984908	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:64984908G>A	ENST00000268603.4	-	12	2271	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G	CDH11_ENST00000566827.1_Silent_p.G426G|CDH11_ENST00000394156.3_Silent_p.G552G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	552	Cadherin 5. {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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGCGTACACGCCTGCTGTGT	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1654-1656)ggC>ggT		cadherin 11, type 2, OB-cadherin (osteoblast)							46.0	46.0	46.0					16																	64984908		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984908G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1656C>T	16.37:g.64984908G>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.G426G|CDH11_ENST00000268603.4_Silent_p.G552G	p.G552G			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2109	-		Ovarian(137;0.0973)	552			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1656C>T	CCDS10803.1																																																																																				0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	24	0	0	0	1	0	4	24				
SLC9A1	6548	broad.mit.edu	37	1	27426937	27426937	+	Missense_Mutation	SNP	G	G	A	rs372651626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27426937G>A	ENST00000263980.3	-	12	2884	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	SLC9A1_ENST00000545949.1_Missense_Mutation_p.S431L|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	770					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCCTGGGGACGAAGTCTCCTT	0.627																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2308-2310)tCg>tTg		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)		LEU/SER	0,4406		0,0,2203	153.0	142.0	146.0		2309	4.1	0.5	1		146	3,8597	3.0+/-9.4	0,3,4297	no	missense	SLC9A1	NM_003047.3	145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	770/816	27426937	3,13003	2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27426937G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2309C>T	1.37:g.27426937G>A	ENSP00000263980:p.Ser770Leu					SLC9A1_ENST00000545949.1_Missense_Mutation_p.S431L	p.S770L	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2884	-			770					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2309C>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	g	12.35	1.911628	0.33721	0.0	3.49E-4	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.49432	0.78;1.37	4.06	4.06	0.47325	.	0.725046	0.13189	N	0.406855	T	0.37489	0.1005	L	0.51422	1.61	0.39762	D	0.972035	P	0.39094	0.659	B	0.20184	0.028	T	0.42378	-0.9455	10	0.27082	T	0.32	.	16.0401	0.80667	0.0:0.0:1.0:0.0	.	770	P19634	SL9A1_HUMAN	L	770;274;431;191	ENSP00000263980:S770L;ENSP00000445520:S431L	ENSP00000263980:S770L	S	-	2	0	SLC9A1	27299524	1.000000	0.71417	0.519000	0.27824	0.315000	0.28087	6.296000	0.72751	2.111000	0.64477	0.580000	0.79431	TCG		0.627	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		33	57	0	0	0	1	0	33	57				
MAP1S	55201	broad.mit.edu	37	19	17837219	17837219	+	Silent	SNP	C	C	T	rs370137934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACGCCTGCGAGGCCGCGT	0.731																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(1024-1026)tgC>tgT		microtubule-associated protein 1S							6.0	7.0	6.0					19																	17837219		2098	4136	6234	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837219C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1026C>T	19.37:g.17837219C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	p.C342C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	1177	+			342			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.1026C>T	CCDS32954.1																																																																																				0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		3	2	0	0	0	1	0	3	2				
EFCAB6	64800	broad.mit.edu	37	22	43936214	43936214	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43936214C>T	ENST00000262726.7	-	28	3925	c.3672G>A	c.(3670-3672)atG>atA	p.M1224I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1072I|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1224	EF-hand 14. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CATTGACTGGCATCTCGTTCC	0.572																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3670-3672)atG>atA		EF-hand calcium binding domain 6							79.0	64.0	69.0					22																	43936214		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43936214C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3672G>A	22.37:g.43936214C>T	ENSP00000262726:p.Met1224Ile					EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1072I|EFCAB6_ENST00000461800.1_5'UTR	p.M1224I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			28	3925	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1224			EF-hand 14.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3672G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469556	0.43839	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.77877	-1.13;-1.13	5.49	4.42	0.53409	EF-hand calcium-binding domain-containing protein 6 (1);EF-hand-like domain (1);	0.667620	0.15286	N	0.270437	T	0.72028	0.3410	M	0.65975	2.015	0.80722	D	1	B	0.24092	0.097	B	0.20955	0.032	T	0.64931	-0.6291	10	0.22706	T	0.39	-34.4394	8.8163	0.34998	0.1506:0.7696:0.0:0.0798	.	1224	Q5THR3	EFCB6_HUMAN	I	1072;1224	ENSP00000379533:M1072I;ENSP00000262726:M1224I	ENSP00000262726:M1224I	M	-	3	0	EFCAB6	42267547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.381000	0.44336	2.731000	0.93534	0.650000	0.86243	ATG		0.572	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		29	40	0	0	0	1	0	29	40				
EPX	8288	broad.mit.edu	37	17	56276416	56276416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56276416C>T	ENST00000225371.5	+	8	1246	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACCCGATCAACGGAAACCCCC	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1135-1137)aCg>aTg		eosinophil peroxidase							74.0	65.0	68.0					17																	56276416		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276416C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1136C>T	17.37:g.56276416C>T	ENSP00000225371:p.Thr379Met						p.T379M	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			8	1246	+			379					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1136C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.178047	0.57692	.	.	ENSG00000121053	ENST00000225371	T	0.73047	-0.71	5.55	-1.24	0.09435	.	0.409870	0.32372	N	0.006190	T	0.72003	0.3407	L	0.28400	0.85	0.09310	N	1	D	0.52996	0.957	P	0.54590	0.756	T	0.73833	-0.3858	10	0.87932	D	0	-3.4044	22.6663	0.99974	0.0:0.13:0.87:0.0	.	379	P11678	PERE_HUMAN	M	379	ENSP00000225371:T379M	ENSP00000225371:T379M	T	+	2	0	EPX	53631415	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-0.224000	0.09164	-0.536000	0.06298	0.655000	0.94253	ACG		0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	49	0	0	0	1	0	4	49				
ARHGEF37	389337	broad.mit.edu	37	5	149003654	149003654	+	Missense_Mutation	SNP	G	G	A	rs372584659		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149003654G>A	ENST00000333677.6	+	10	1578	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	472						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AACCAGCTTCGCTCCTTTCAA	0.577																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1414-1416)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 37		G	HIS/ARG	0,4058		0,0,2029	102.0	114.0	110.0		1415	-4.5	0.0	5		110	1,8351		0,1,4175	no	missense	ARHGEF37	NM_001001669.2	29	0,1,6204	AA,AG,GG		0.012,0.0,0.0081	benign	472/676	149003654	1,12409	2029	4176	6205	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149003654G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1415G>A	5.37:g.149003654G>A	ENSP00000328083:p.Arg472His						p.R472H	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			10	1578	+			472					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1415G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665715	0.29604	0.0	1.2E-4	ENSG00000183111	ENST00000333677	T	0.54675	0.56	5.61	-4.52	0.03472	.	1.073510	0.06964	N	0.816882	T	0.36853	0.0982	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	10	0.45353	T	0.12	0.6964	13.8529	0.63508	0.716:0.0:0.284:0.0	.	472	A1IGU5	ARH37_HUMAN	H	472	ENSP00000328083:R472H	ENSP00000328083:R472H	R	+	2	0	ARHGEF37	148983847	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-0.243000	0.08915	-0.801000	0.04427	-0.263000	0.10527	CGC		0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		9	29	0	0	0	1	0	9	29				
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000544547.1_Silent_p.R215R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0					ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(607-609)cgC>cgT		LIM and senescent cell antigen-like domains 1							43.0	38.0	40.0					2																	109292448		2203	4300	6503	SO:0001819	synonymous_variant	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292448C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.609C>T	2.37:g.109292448C>T						LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000332345.6_Silent_p.R203R	p.R203R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			6	776	+			203			LIM zinc-binding 4.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	c.609C>T	CCDS2078.1																																																																																				0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		6	9	0	0	0	1	0	6	9				
FREM2	341640	broad.mit.edu	37	13	39433688	39433688	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39433688G>A	ENST00000280481.7	+	14	7696	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2494					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAGGCCTGGAGCTCATGAG	0.493																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(7480-7482)Gag>Aag		FRAS1 related extracellular matrix protein 2							73.0	69.0	71.0					13																	39433688		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39433688G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7480G>A	13.37:g.39433688G>A	ENSP00000280481:p.Glu2494Lys						p.E2494K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	14	7696	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2494					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7480G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315894	0.81469	.	.	ENSG00000150893	ENST00000280481	T	0.20332	2.08	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.56475	-0.7973	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	2494;2494	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	K	2494	ENSP00000280481:E2494K	ENSP00000280481:E2494K	E	+	1	0	FREM2	38331688	1.000000	0.71417	0.998000	0.56505	0.066000	0.16364	9.758000	0.98927	2.937000	0.99478	0.650000	0.86243	GAG		0.493	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		9	19	0	0	0	1	0	9	19				
SOCS4	122809	broad.mit.edu	37	14	55510444	55510444	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55510444G>A	ENST00000395472.2	+	2	1017	c.685G>A	c.(685-687)Gat>Aat	p.D229N	SOCS4_ENST00000555846.1_Missense_Mutation_p.D229N|SOCS4_ENST00000339298.2_Missense_Mutation_p.D229N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	229					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TAGTGATATGGATTCCGATGA	0.403																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(685-687)Gat>Aat		suppressor of cytokine signaling 4							81.0	75.0	77.0					14																	55510444		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510444G>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.685G>A	14.37:g.55510444G>A	ENSP00000378855:p.Asp229Asn					SOCS4_ENST00000555846.1_Missense_Mutation_p.D229N|SOCS4_ENST00000339298.2_Missense_Mutation_p.D229N	p.D229N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1017	+			229						Missense_Mutation	SNP	ENST00000395472.2	37	c.685G>A	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673413	0.88445	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.37058	1.22;1.22;1.22	5.87	5.87	0.94306	.	0.144283	0.46145	D	0.000305	T	0.47210	0.1433	L	0.42245	1.32	0.58432	D	0.999997	D	0.63880	0.993	P	0.52598	0.703	T	0.39078	-0.9631	10	0.66056	D	0.02	-20.7954	20.207	0.98280	0.0:0.0:1.0:0.0	.	229	Q8WXH5	SOCS4_HUMAN	N	229	ENSP00000378855:D229N;ENSP00000452522:D229N;ENSP00000341327:D229N	ENSP00000341327:D229N	D	+	1	0	SOCS4	54580197	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.639000	0.91023	2.765000	0.95021	0.650000	0.86243	GAT		0.403	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			28	44	0	0	0	1	0	28	44				
LRP1B	53353	broad.mit.edu	37	2	141135848	141135848	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141135848C>A	ENST00000389484.3	-	68	11510	c.10539G>T	c.(10537-10539)caG>caT	p.Q3513H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3513					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTACATGTCTGTGGCTCTG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10537-10539)caG>caT		low density lipoprotein receptor-related protein 1B							92.0	79.0	84.0					2																	141135848		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141135848C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10539G>T	2.37:g.141135848C>A	ENSP00000374135:p.Gln3513His	TSP Lung(27;0.18)					p.Q3513H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11510	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3513					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10539G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765326	0.31228	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.6	-1.08	0.09936	.	0.176711	0.37857	N	0.001908	D	0.88269	0.6391	L	0.33753	1.03	0.25571	N	0.986898	D	0.54397	0.966	P	0.55161	0.77	T	0.82741	-0.0307	10	0.39692	T	0.17	.	12.0183	0.53329	0.0:0.4693:0.0:0.5307	.	3513	Q9NZR2	LRP1B_HUMAN	H	3513;3451	ENSP00000374135:Q3513H	ENSP00000374135:Q3513H	Q	-	3	2	LRP1B	140852318	0.975000	0.34042	0.995000	0.50966	0.960000	0.62799	0.130000	0.15850	-0.127000	0.11661	-0.194000	0.12790	CAG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	30	1	0	2.37509e-13	1	2.57931e-13	21	30				
FREM2	341640	broad.mit.edu	37	13	39263301	39263301	+	Missense_Mutation	SNP	C	C	T	rs115928688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39263301C>T	ENST00000280481.7	+	1	2036	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	607					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCTTAACTACGGGGCATCTG	0.527																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1819-1821)aCg>aTg		FRAS1 related extracellular matrix protein 2							131.0	129.0	129.0					13																	39263301		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263301C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1820C>T	13.37:g.39263301C>T	ENSP00000280481:p.Thr607Met						p.T607M	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2036	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	607					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1820C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.914939	0.00503	.	.	ENSG00000150893	ENST00000280481	T	0.18960	2.18	5.41	-0.661	0.11417	.	1.474090	0.03496	N	0.217332	T	0.15825	0.0381	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.33471	-0.9867	10	0.30854	T	0.27	.	11.3231	0.49435	0.0:0.4391:0.0:0.5609	.	607	Q5SZK8	FREM2_HUMAN	M	607	ENSP00000280481:T607M	ENSP00000280481:T607M	T	+	2	0	FREM2	38161301	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.647000	0.24812	-0.544000	0.06232	-0.997000	0.02515	ACG		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		25	28	0	0	0	1	0	25	28				
FSCN2	25794	broad.mit.edu	37	17	79496288	79496288	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79496288C>T	ENST00000417245.2	+	1	867	c.731C>T	c.(730-732)aCg>aTg	p.T244M	RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.T244M|RP13-766D20.2_ENST00000442532.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	244					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCCGAAACACGCGACCTGGC	0.647																																						ENST00000417245.2																			0				endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(730-732)aCg>aTg		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							13.0	16.0	15.0					17																	79496288		2150	4215	6365	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496288C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.731C>T	17.37:g.79496288C>T	ENSP00000388716:p.Thr244Met					FSCN2_ENST00000334850.7_Missense_Mutation_p.T244M	p.T244M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	867	+	all_neural(118;0.0878)|Melanoma(429;0.242)		244					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.731C>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997167	0.19043	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.33654	1.4;1.4	4.65	3.4	0.38934	Fascin domain (1);Actin cross-linking (1);	0.064324	0.64402	D	0.000005	T	0.43077	0.1231	L	0.46157	1.445	0.38583	D	0.950227	P;D	0.65815	0.663;0.995	B;P	0.55713	0.128;0.782	T	0.44283	-0.9338	10	0.59425	D	0.04	-8.8212	10.1291	0.42667	0.0:0.8769:0.0:0.1231	.	244;244	O14926;A8MRA6	FSCN2_HUMAN;.	M	244	ENSP00000388716:T244M;ENSP00000334665:T244M	ENSP00000334665:T244M	T	+	2	0	FSCN2	77110883	1.000000	0.71417	0.019000	0.16419	0.072000	0.16883	5.574000	0.67424	0.931000	0.37242	0.460000	0.39030	ACG		0.647	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		8	10	0	0	0	1	0	8	10				
PRICKLE2	166336	broad.mit.edu	37	3	64085073	64085073	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64085073C>T	ENST00000295902.6	-	8	2774	c.2189G>A	c.(2188-2190)cGg>cAg	p.R730Q	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786Q|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGGAAGCTCCGCTGGCGCAT	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2188-2190)cGg>cAg		prickle homolog 2 (Drosophila)							46.0	50.0	49.0					3																	64085073		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085073C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2189G>A	3.37:g.64085073C>T	ENSP00000295902:p.Arg730Gln					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786Q|PRICKLE2-AS1_ENST00000476308.1_RNA	p.R730Q	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2774	-		Lung NSC(201;0.136)	730			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2189G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420662	0.62622	.	.	ENSG00000163637	ENST00000295902	D	0.86097	-2.07	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.82199	0.4985	L	0.59436	1.845	0.54753	D	0.999981	P	0.49185	0.92	B	0.35240	0.198	D	0.85480	0.1178	10	0.62326	D	0.03	-39.0594	19.3767	0.94512	0.0:1.0:0.0:0.0	.	730	Q7Z3G6	PRIC2_HUMAN	Q	730	ENSP00000295902:R730Q	ENSP00000295902:R730Q	R	-	2	0	PRICKLE2	64060113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.602000	0.61098	2.651000	0.90000	0.591000	0.81541	CGG		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		8	35	0	0	0	1	0	8	35				
CHAC1	79094	broad.mit.edu	37	15	41247791	41247791	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41247791C>T	ENST00000446533.3	+	3	923	c.614C>T	c.(613-615)aCg>aTg	p.T205M	CHAC1_ENST00000444189.2_Missense_Mutation_p.T160M|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	205					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCCATTGCCACGCAGATCCTG	0.622																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(613-615)aCg>aTg		ChaC, cation transport regulator homolog 1 (E. coli)							94.0	92.0	92.0					15																	41247791		2203	4300	6503	SO:0001583	missense	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247791C>T	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.614C>T	15.37:g.41247791C>T	ENSP00000398105:p.Thr205Met					CHAC1_ENST00000444189.2_Missense_Mutation_p.T160M|CHAC1_ENST00000487220.1_5'UTR	p.T205M	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	923	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	205					Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	c.614C>T	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	C	5.492	0.275724	0.10403	.	.	ENSG00000128965	ENST00000446533;ENST00000444189	T	0.44083	0.93	5.78	0.0398	0.14206	Butirosin biosynthesis, BtrG-like (1);	0.289400	0.39834	N	0.001256	T	0.29783	0.0744	L	0.49126	1.545	0.23665	N	0.997165	B;B	0.26400	0.148;0.103	B;B	0.26202	0.034;0.067	T	0.14699	-1.0463	10	0.45353	T	0.12	-11.5064	3.9114	0.09205	0.23:0.5324:0.1114:0.1261	.	160;205	Q9BUX1-2;Q9BUX1	.;CHAC1_HUMAN	M	205;160	ENSP00000398105:T205M	ENSP00000395466:T160M	T	+	2	0	CHAC1	39035083	0.898000	0.30612	0.003000	0.11579	0.000000	0.00434	2.124000	0.42006	0.361000	0.24292	-1.547000	0.00903	ACG		0.622	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		15	108	0	0	0	1	0	15	108				
UNC13C	440279	broad.mit.edu	37	15	54786925	54786925	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54786925T>C	ENST00000260323.11	+	19	5053	c.5053T>C	c.(5053-5055)Tac>Cac	p.Y1685H	UNC13C_ENST00000545554.1_Missense_Mutation_p.Y1685H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1683H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1685	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTCCTGAATACTCCTTGTA	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5053-5055)Tac>Cac		unc-13 homolog C (C. elegans)							181.0	173.0	175.0					15																	54786925		1856	4099	5955	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786925T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5053T>C	15.37:g.54786925T>C	ENSP00000260323:p.Tyr1685His					UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1685H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1683H	p.Y1685H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	19	5053	+			1685			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5053T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881120	0.72294	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;D;T	0.81499	-1.49;-1.5;-1.49	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.123221	0.56097	D	0.000026	D	0.91181	0.7222	M	0.88310	2.945	0.58432	D	0.999995	D	0.76494	0.999	D	0.83275	0.996	D	0.92555	0.6053	10	0.72032	D	0.01	.	15.7569	0.78037	0.0:0.0:0.0:1.0	.	1685	Q8NB66	UN13C_HUMAN	H	1685;1685;1683	ENSP00000260323:Y1685H;ENSP00000438156:Y1685H;ENSP00000442569:Y1683H	ENSP00000260323:Y1685H	Y	+	1	0	UNC13C	52574217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	TAC		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		42	53	0	0	0	1	0	42	53				
AXIN1	8312	broad.mit.edu	37	16	354308	354308	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:354308C>T	ENST00000262320.3	-	5	1621	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R417H|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	417	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACTCACCATGCGCACGCGCTT	0.677																																						ENST00000262320.3																			1	Unknown(1)	p.?(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1249-1251)cGc>cAc		axin 1							38.0	39.0	39.0					16																	354308		2197	4292	6489	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354308C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1250G>A	16.37:g.354308C>T	ENSP00000262320:p.Arg417His					AXIN1_ENST00000354866.3_Missense_Mutation_p.R417H|AXIN1_ENST00000481769.1_5'UTR	p.R417H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1621	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	417			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1250G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780019	0.90195	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.93763	-3.28;-3.28	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.895;0.847	D	0.95573	0.8640	10	0.66056	D	0.02	-1.4291	18.2748	0.90078	0.0:1.0:0.0:0.0	.	417;417	O15169-2;O15169	.;AXIN1_HUMAN	H	417	ENSP00000262320:R417H;ENSP00000346935:R417H	ENSP00000262320:R417H	R	-	2	0	AXIN1	294309	1.000000	0.71417	0.518000	0.27811	0.924000	0.55760	5.900000	0.69853	2.339000	0.79563	0.563000	0.77884	CGC		0.677	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			16	12	0	0	0	1	0	16	12				
DENND4B	9909	broad.mit.edu	37	1	153914384	153914384	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153914384C>T	ENST00000361217.4	-	6	1434	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	339	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACGGAGTAGCGGTAAAGGAA	0.657																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1015-1017)cGc>cAc		DENN/MADD domain containing 4B							44.0	52.0	49.0					1																	153914384		2172	4256	6428	SO:0001583	missense	9909							g.chr1:153914384C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1016G>A	1.37:g.153914384C>T	ENSP00000354597:p.Arg339His						p.R339H	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1434	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		339			DENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1016G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910930	0.92178	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11930	2.73;2.73	4.39	4.39	0.52855	DENN (3);	0.000000	0.64402	D	0.000001	T	0.28732	0.0712	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05451	-1.0884	10	0.87932	D	0	-18.9778	15.8831	0.79219	0.0:1.0:0.0:0.0	.	339	O75064	DEN4B_HUMAN	H	339;350	ENSP00000354597:R339H;ENSP00000357635:R350H	ENSP00000354597:R339H	R	-	2	0	DENND4B	152181008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.853000	0.69496	2.292000	0.77174	0.462000	0.41574	CGC		0.657	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		12	22	0	0	0	1	0	12	22				
ARHGAP44	9912	broad.mit.edu	37	17	12846944	12846944	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12846944A>G	ENST00000379672.5	+	9	991	c.691A>G	c.(691-693)Aca>Gca	p.T231A	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T231A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T231A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	231	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAAGTCCCTGACACTATTGCA	0.557																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(691-693)Aca>Gca		Rho GTPase activating protein 44							152.0	143.0	146.0					17																	12846944		2009	4163	6172	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12846944A>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.691A>G	17.37:g.12846944A>G	ENSP00000368994:p.Thr231Ala					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T231A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T231A	p.T231A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			9	991	+			231			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.691A>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944802	0.34283	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.28895	1.59;1.59	5.63	3.43	0.39272	BAR (3);	0.186804	0.47852	N	0.000201	T	0.08044	0.0201	N	0.01228	-0.945	0.29183	N	0.876386	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.34950	-0.9808	10	0.02654	T	1	.	6.3574	0.21408	0.7388:0.0:0.2612:0.0	.	231;231	A6NCP5;Q17R89	.;RHG44_HUMAN	A	231	ENSP00000368994:T231A;ENSP00000342566:T231A	ENSP00000342566:T231A	T	+	1	0	ARHGAP44	12787669	1.000000	0.71417	0.726000	0.30738	0.924000	0.55760	3.483000	0.53194	0.960000	0.38005	0.455000	0.32223	ACA		0.557	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		4	83	0	0	0	1	0	4	83				
DLD	1738	broad.mit.edu	37	7	107545875	107545875	+	Missense_Mutation	SNP	G	G	A	rs567286177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107545875G>A	ENST00000205402.5	+	7	789	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	DLD_ENST00000537148.1_Missense_Mutation_p.G71S|DLD_ENST00000440410.1_Missense_Mutation_p.G147S|DLD_ENST00000437604.2_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	170					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGCTGATGGCGGCACTCAGGT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.001					ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(508-510)Ggc>Agc		dihydrolipoamide dehydrogenase	NADH(DB00157)						111.0	108.0	109.0					7																	107545875		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107545875G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.508G>A	7.37:g.107545875G>A	ENSP00000205402:p.Gly170Ser					DLD_ENST00000537148.1_Missense_Mutation_p.G71S|DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Missense_Mutation_p.G147S	p.G170S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			7	789	+			170					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.508G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404487	0.25378	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000539590	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.88	0.655	0.17839	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.075781	0.85682	N	0.000000	T	0.16214	0.0390	N	0.03983	-0.305	0.32584	N	0.528065	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.28073	-1.0055	10	0.12103	T	0.63	-11.9932	9.5901	0.39541	0.7364:0.0:0.2636:0.0	.	147;170	E9PEX6;P09622	.;DLDH_HUMAN	S	170;170;71;147;120	ENSP00000205402:G170S;ENSP00000390667:G170S;ENSP00000442399:G71S;ENSP00000417016:G147S	ENSP00000205402:G170S	G	+	1	0	DLD	107333111	1.000000	0.71417	0.995000	0.50966	0.551000	0.35334	2.923000	0.48868	-0.066000	0.12998	-0.423000	0.05987	GGC		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		44	62	0	0	0	1	0	44	62				
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532																																						ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1033-1035)ggC>ggT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						117.0	112.0	114.0					1																	17410236		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17410236G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1035C>T	1.37:g.17410236G>A						PADI2_ENST00000444885.2_Silent_p.G229G|PADI2_ENST00000375481.1_Silent_p.G345G	p.G345G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	9	1098	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	345					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1035C>T	CCDS177.1																																																																																				0.532	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			33	37	0	0	0	1	0	33	37				
ASPM	259266	broad.mit.edu	37	1	197091131	197091131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197091131C>T	ENST00000367409.4	-	16	4040	c.3784G>A	c.(3784-3786)Gat>Aat	p.D1262N	ASPM_ENST00000294732.7_Missense_Mutation_p.D1262N|ASPM_ENST00000367408.1_Missense_Mutation_p.D512N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1262					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACGAAGATCCAAAAGCCTT	0.333																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3784-3786)Gat>Aat		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							80.0	76.0	77.0					1																	197091131		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091131C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3784G>A	1.37:g.197091131C>T	ENSP00000356379:p.Asp1262Asn					ASPM_ENST00000367408.1_Missense_Mutation_p.D512N|ASPM_ENST00000294732.7_Missense_Mutation_p.D1262N	p.D1262N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			16	4040	-			1262					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3784G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588011	0.86851	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.82803	-1.65;-1.65;-1.65	5.74	4.82	0.62117	Calponin homology domain (2);	0.073098	0.56097	D	0.000031	D	0.83681	0.5307	L	0.52573	1.65	0.46416	D	0.999034	P;D	0.55800	0.802;0.973	B;P	0.49799	0.184;0.622	D	0.83516	0.0083	10	0.40728	T	0.16	.	16.264	0.82565	0.1335:0.8665:0.0:0.0	.	1262;1262	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1262;1262;512	ENSP00000356379:D1262N;ENSP00000294732:D1262N;ENSP00000356378:D512N	ENSP00000294732:D1262N	D	-	1	0	ASPM	195357754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.262000	0.58847	1.422000	0.47177	0.585000	0.79938	GAT		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		21	25	0	0	0	1	0	21	25				
IL2RB	3560	broad.mit.edu	37	22	37539572	37539572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37539572C>T	ENST00000216223.5	-	3	390	c.192G>A	c.(190-192)tgG>tgA	p.W64*		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	64					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTCTGTCCGGCCAGGCATGGA	0.537																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(190-192)tgG>tgA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						70.0	61.0	64.0					22																	37539572		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37539572C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.192G>A	22.37:g.37539572C>T	ENSP00000216223:p.Trp64*						p.W64*	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			3	390	-			64					B2R765	Nonsense_Mutation	SNP	ENST00000216223.5	37	c.192G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826439	0.90955	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	.	.	.	4.75	-0.067	0.13762	.	2.577270	0.01336	N	0.011389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.4908	3.4025	0.07328	0.1756:0.4912:0.0:0.3332	.	.	.	.	X	64	.	ENSP00000216223:W64X	W	-	3	0	IL2RB	35869518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-0.141000	0.11374	-0.254000	0.11334	TGG		0.537	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			8	13	0	0	0	1	0	8	13				
PABPC5	140886	broad.mit.edu	37	X	90690630	90690630	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:90690630C>T	ENST00000312600.3	+	2	268	c.54C>T	c.(52-54)gcC>gcT	p.A18A	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	18	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATCTCAAGGCCGCTCTGTACG	0.542																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(52-54)gcC>gcT		poly(A) binding protein, cytoplasmic 5							82.0	63.0	69.0					X																	90690630		2203	4300	6503	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690630C>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.54C>T	X.37:g.90690630C>T						PABPC5_ENST00000373105.1_Intron	p.A18A	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	268	+			18			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.54C>T	CCDS14460.1																																																																																				0.542	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		11	3	0	0	0	1	0	11	3				
NEO1	4756	broad.mit.edu	37	15	73541550	73541550	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73541550G>A	ENST00000339362.5	+	11	2202		c.e11+1		NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000560352.1_Splice_Site|NEO1_ENST00000558964.1_Splice_Site|NEO1_ENST00000261908.6_Splice_Site			Q92859	NEO1_HUMAN	neogenin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAAGAACAGGTATGAAGTGA	0.383																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.e11+1		neogenin 1							63.0	65.0	64.0					15																	73541550		2198	4297	6495	SO:0001630	splice_region_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541550G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1755+1G>A	15.37:g.73541550G>A						NEO1_ENST00000261908.6_Splice_Site|NEO1_ENST00000560262.1_Splice_Site|NEO1_ENST00000560352.1_Splice_Site|NEO1_ENST00000558964.1_Splice_Site				Q92859	NEO1_HUMAN			11	2202	+								B7ZKM9|B7ZKN0|O00340|Q17RX1	Splice_Site	SNP	ENST00000339362.5	37		CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703624	0.88924	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0691	0.93125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEO1	71328603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.484000	0.97940	2.601000	0.87937	0.650000	0.86243	.		0.383	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	Intron	21	18	0	0	0	1	0	21	18				
ENTHD1	150350	broad.mit.edu	37	22	40257913	40257913	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40257913C>T	ENST00000325157.6	-	3	699	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	150										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGGGAGGTACGCTGTCTAGT	0.448																																						ENST00000325157.6																			0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(448-450)cGt>cAt		ENTH domain containing 1							82.0	75.0	77.0					22																	40257913		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40257913C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.449G>A	22.37:g.40257913C>T	ENSP00000317431:p.Arg150His						p.R150H	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN			3	699	-	Melanoma(58;0.0749)		150					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.449G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486728	0.63962	.	.	ENSG00000176177	ENST00000325157	T	0.56776	0.44	6.17	6.17	0.99709	ENTH/VHS (1);	0.000000	0.64402	D	0.000004	T	0.71634	0.3363	M	0.66939	2.045	0.41161	D	0.986093	D	0.89917	1.0	D	0.85130	0.997	T	0.72724	-0.4207	10	0.87932	D	0	-14.2028	16.3795	0.83443	0.0:1.0:0.0:0.0	.	150	Q8IYW4	ENTD1_HUMAN	H	150	ENSP00000317431:R150H	ENSP00000317431:R150H	R	-	2	0	ENTHD1	38587859	0.948000	0.32251	0.826000	0.32828	0.166000	0.22503	3.949000	0.56668	2.941000	0.99782	0.655000	0.94253	CGT		0.448	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		22	34	0	0	0	1	0	22	34				
ZNF746	155061	broad.mit.edu	37	7	149174839	149174839	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149174839C>T	ENST00000340622.3	-	5	808	c.528G>A	c.(526-528)ggG>ggA	p.G176G	ZNF746_ENST00000458143.2_Silent_p.G176G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	176					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTGGGGGCCCCGAGCCTA	0.657																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(526-528)ggG>ggA		zinc finger protein 746							15.0	18.0	17.0					7																	149174839		2203	4299	6502	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174839C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.528G>A	7.37:g.149174839C>T						ZNF746_ENST00000458143.2_Silent_p.G176G	p.G176G			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	808	-	Melanoma(164;0.165)		176					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.528G>A	CCDS5897.1																																																																																				0.657	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		11	13	0	0	0	1	0	11	13				
PDGFD	80310	broad.mit.edu	37	11	104034652	104034652	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:104034652G>A	ENST00000393158.2	-	1	183	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	PDGFD_ENST00000302251.5_Missense_Mutation_p.H2Y			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	2					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATGAGCCGGTGCATTTGGGAT	0.602											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(4-6)Cac>Tac		platelet derived growth factor D							54.0	54.0	54.0					11																	104034652		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034652G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.4C>T	11.37:g.104034652G>A	ENSP00000376865:p.His2Tyr		OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Missense_Mutation_p.H2Y	p.H2Y	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	455	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	2					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.4C>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791203	0.31685	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.24723	1.84;1.84	5.15	4.03	0.46877	.	0.713327	0.12615	N	0.453529	T	0.14270	0.0345	N	0.08118	0	0.21220	N	0.999759	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09640	-1.0665	10	0.41790	T	0.15	-2.6707	11.4148	0.49945	0.1023:0.0:0.8977:0.0	.	2;2	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	Y	2	ENSP00000376865:H2Y;ENSP00000302193:H2Y	ENSP00000302193:H2Y	H	-	1	0	PDGFD	103539862	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	3.725000	0.54970	2.393000	0.81446	0.650000	0.86243	CAC		0.602	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		9	21	0	0	0	1	0	9	21				
AGPAT2	10555	broad.mit.edu	37	9	139571064	139571064	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139571064G>A	ENST00000371696.2	-	4	626	c.561C>T	c.(559-561)ggC>ggT	p.G187G	AGPAT2_ENST00000538402.1_Silent_p.G187G|AGPAT2_ENST00000371694.3_Intron	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	187					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.G187G(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGTAGAAGGCGCCCTTCTTAA	0.627																																						ENST00000371696.2																			2	Substitution - coding silent(2)	p.G187G(2)	large_intestine(1)|endometrium(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(559-561)ggC>ggT		1-acylglycerol-3-phosphate O-acyltransferase 2							112.0	99.0	104.0					9																	139571064		2203	4300	6503	SO:0001819	synonymous_variant	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571064G>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.561C>T	9.37:g.139571064G>A						AGPAT2_ENST00000371694.3_Intron|AGPAT2_ENST00000538402.1_Silent_p.G187G	p.G187G	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	626	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	187					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	c.561C>T	CCDS7003.1																																																																																				0.627	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		28	29	0	0	0	1	0	28	29				
AGAP2	116986	broad.mit.edu	37	12	58123441	58123441	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58123441G>A	ENST00000547588.1	-	13	2537	c.2538C>T	c.(2536-2538)ggC>ggT	p.G846G	AGAP2_ENST00000257897.3_Silent_p.G510G	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	846	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCCAGCCGAGCCTTCAGTCT	0.587																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1528-1530)ggC>ggT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							132.0	126.0	128.0					12																	58123441		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58123441G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2538C>T	12.37:g.58123441G>A						AGAP2_ENST00000547588.1_Silent_p.G846G	p.G510G	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			13	1615	-			846			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1530C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242257	0.10077	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.39	2.56	0.30785	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41980	-0.9478	4	.	.	.	.	5.1301	0.14905	0.1916:0.2805:0.5278:0.0	.	.	.	.	F	710	.	.	L	-	1	0	AGAP2	56409708	0.975000	0.34042	0.988000	0.46212	0.870000	0.49936	0.129000	0.15830	0.606000	0.29965	0.462000	0.41574	CTC		0.587	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		30	54	0	0	0	1	0	30	54				
COL5A3	50509	broad.mit.edu	37	19	10097008	10097008	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10097008C>A	ENST00000264828.3	-	30	2420	c.2335G>T	c.(2335-2337)Ggc>Tgc	p.G779C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	779	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCAGCTGAGCCTGGGGGCCCC	0.622																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2335-2337)Ggc>Tgc		collagen, type V, alpha 3							28.0	32.0	31.0					19																	10097008		2201	4300	6501	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10097008C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2335G>T	19.37:g.10097008C>A	ENSP00000264828:p.Gly779Cys						p.G779C	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		30	2420	-			779			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2335G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909243	0.72868	.	.	ENSG00000080573	ENST00000264828	D	0.97089	-4.24	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	D	0.99127	0.9699	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98755	1.0722	10	0.87932	D	0	.	15.0349	0.71738	0.0:1.0:0.0:0.0	.	779	P25940	CO5A3_HUMAN	C	779	ENSP00000264828:G779C	ENSP00000264828:G779C	G	-	1	0	COL5A3	9958008	1.000000	0.71417	0.977000	0.42913	0.851000	0.48451	6.879000	0.75572	2.195000	0.70347	0.462000	0.41574	GGC		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	11	1	0	0.0381472	1	0.0383569	8	11				
PDE4A	5141	broad.mit.edu	37	19	10578164	10578164	+	Missense_Mutation	SNP	C	C	T	rs201404545		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10578164C>T	ENST00000352831.6	+	15	2638	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	PDE4A_ENST00000380702.2_Missense_Mutation_p.A821V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A817V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A782V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A604V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A821V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	843					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCCTCCACGGCGGCCGAGGTG	0.672																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2461-2463)gCg>gTg		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						39.0	45.0	43.0					19																	10578164		2180	4252	6432	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578164C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2528C>T	19.37:g.10578164C>T	ENSP00000270474:p.Ala843Val					PDE4A_ENST00000592685.1_Missense_Mutation_p.A821V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A843V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A817V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A782V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A604V	p.A821V			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2462	+			843					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2462C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.176851	0.78564	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.75154	-0.86;-0.87;-0.91;-0.87;-0.66	3.86	2.82	0.32997	.	2.042280	0.02294	N	0.070575	T	0.78916	0.4359	L	0.27053	0.805	0.27686	N	0.946262	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.994;0.994;0.986	T	0.67317	-0.5701	10	0.87932	D	0	.	6.6458	0.22934	0.0:0.8701:0.0:0.1299	.	604;782;817;843	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	V	821;843;817;782;604	ENSP00000370078:A821V;ENSP00000270474:A843V;ENSP00000293683:A817V;ENSP00000394754:A782V;ENSP00000341007:A604V	ENSP00000293683:A817V	A	+	2	0	PDE4A	10439164	0.943000	0.32029	0.998000	0.56505	0.979000	0.70002	0.701000	0.25616	2.146000	0.66826	0.479000	0.44913	GCG		0.672	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			47	40	0	0	0	1	0	47	40				
ZNF418	147686	broad.mit.edu	37	19	58437963	58437963	+	Missense_Mutation	SNP	C	C	T	rs200332982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58437963C>T	ENST00000396147.1	-	4	1877	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.R444Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.R550Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R529Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ATGAACTCTCCGATGTCGAAG	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23252	0.0		0.0	False		,,,				2504	0.0					ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1585-1587)cGg>cAg		zinc finger protein 418		C	GLN/ARG	2,4378		0,2,2188	91.0	94.0	93.0		1586	-1.5	0.0	19		93	0,8592		0,0,4296	yes	missense	ZNF418	NM_133460.1	43	0,2,6484	TT,TC,CC		0.0,0.0457,0.0154	probably-damaging	529/677	58437963	2,12970	2190	4296	6486	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437963C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1586G>A	19.37:g.58437963C>T	ENSP00000379451:p.Arg529Gln					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.R444Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R550Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R529Q	p.R529Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1877	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	529					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1586G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	4.703	0.130733	0.08981	4.57E-4	0.0	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.17691	2.26;2.26	2.33	-1.47	0.08772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.11201	0.11	0.09310	N	1	B	0.22276	0.067	B	0.09377	0.004	T	0.40627	-0.9553	9	0.02654	T	1	.	6.9817	0.24706	0.0:0.2574:0.0:0.7426	.	529	Q8TF45	ZN418_HUMAN	Q	529;550;495	ENSP00000379451:R529Q;ENSP00000407039:R550Q	ENSP00000379451:R529Q	R	-	2	0	ZNF418	63129775	0.007000	0.16637	0.001000	0.08648	0.231000	0.25187	0.463000	0.21972	-0.240000	0.09696	0.313000	0.20887	CGG		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		25	83	0	0	0	1	0	25	83				
PDCD11	22984	broad.mit.edu	37	10	105203743	105203743	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105203743C>T	ENST00000369797.3	+	34	5290	c.5196C>T	c.(5194-5196)ggC>ggT	p.G1732G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1732					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCAAATACGGCGCCTTCCTTC	0.602																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5194-5196)ggC>ggT		programmed cell death 11							67.0	66.0	66.0					10																	105203743		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203743C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5196C>T	10.37:g.105203743C>T							p.G1732G	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5290	+		Colorectal(252;0.0747)|Breast(234;0.128)	1732					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5196C>T	CCDS31276.1																																																																																				0.602	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			8	75	0	0	0	1	0	8	75				
FBP2	8789	broad.mit.edu	37	9	97349726	97349726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97349726C>T	ENST00000375337.3	-	2	262	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	66					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCTCCCGTCACGTTAACGCTT	0.493																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(196-198)Gtg>Atg		fructose-1,6-bisphosphatase 2							168.0	174.0	172.0					9																	97349726		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97349726C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.196G>A	9.37:g.97349726C>T	ENSP00000364486:p.Val66Met						p.V66M	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			2	262	-		Acute lymphoblastic leukemia(62;0.136)	66					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.196G>A	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599004	0.87055	.	.	ENSG00000130957	ENST00000375337	T	0.73047	-0.71	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.90977	3.165	0.80722	D	1	D	0.65815	0.995	P	0.53689	0.732	D	0.88192	0.2878	10	0.87932	D	0	-6.8846	19.8405	0.96681	0.0:1.0:0.0:0.0	.	66	O00757	F16P2_HUMAN	M	66	ENSP00000364486:V66M	ENSP00000364486:V66M	V	-	1	0	FBP2	96389547	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.869000	0.69613	2.692000	0.91855	0.655000	0.94253	GTG		0.493	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		13	95	0	0	0	1	0	13	95				
PKN1	5585	broad.mit.edu	37	19	14574936	14574936	+	Missense_Mutation	SNP	C	C	T	rs202016982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14574936C>T	ENST00000242783.6	+	12	1867	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PKN1_ENST00000342216.4_Missense_Mutation_p.R574W	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	568					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTCGCGGGATCCTCC	0.637																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1702-1704)Cgg>Tgg		protein kinase N1							64.0	67.0	66.0					19																	14574936		2005	4184	6189	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574936C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1702C>T	19.37:g.14574936C>T	ENSP00000242783:p.Arg568Trp					PKN1_ENST00000342216.4_Missense_Mutation_p.R574W	p.R568W	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			12	1867	+			568					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1702C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860407	0.32884	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.29142	1.58;1.58	4.4	0.998	0.19857	.	1.178910	0.06375	U	0.714289	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	P;P	0.51653	0.947;0.912	B;B	0.33042	0.157;0.075	T	0.21965	-1.0230	10	0.66056	D	0.02	-9.7482	5.64	0.17559	0.0:0.6786:0.1737:0.1477	.	574;568	Q16512-2;Q16512	.;PKN1_HUMAN	W	568;574	ENSP00000242783:R568W;ENSP00000343325:R574W	ENSP00000242783:R568W	R	+	1	2	PKN1	14435936	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.198000	0.09505	0.124000	0.18369	0.484000	0.47621	CGG		0.637	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		14	31	0	0	0	1	0	14	31				
HECA	51696	broad.mit.edu	37	6	139488332	139488332	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139488332G>A	ENST00000367658.2	+	2	1468	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	395					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCACAGAAACGTGGTAAACTG	0.577																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1183-1185)Gtg>Atg		headcase homolog (Drosophila)							54.0	49.0	51.0					6																	139488332		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139488332G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1183G>A	6.37:g.139488332G>A	ENSP00000356630:p.Val395Met					RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	p.V395M	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1468	+			395						Missense_Mutation	SNP	ENST00000367658.2	37	c.1183G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421453	0.42918	.	.	ENSG00000112406	ENST00000367658	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63418	-0.6642	9	0.54805	T	0.06	.	18.064	0.89385	0.0:0.0:1.0:0.0	.	395	Q9UBI9	HDC_HUMAN	M	395	.	ENSP00000356630:V395M	V	+	1	0	HECA	139530025	1.000000	0.71417	0.350000	0.25708	0.813000	0.45954	6.217000	0.72218	2.492000	0.84095	0.563000	0.77884	GTG		0.577	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		11	19	0	0	0	1	0	11	19				
LRRIQ3	127255	broad.mit.edu	37	1	74648336	74648336	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74648336C>T	ENST00000395089.1	-	2	458	c.459G>A	c.(457-459)gcG>gcA	p.A153A	LRRIQ3_ENST00000370911.3_Silent_p.A153A|LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000354431.4_Silent_p.A153A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	153	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GATGATCCAGCGCTTTGAGAG	0.388																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(457-459)gcG>gcA		leucine-rich repeats and IQ motif containing 3							110.0	107.0	108.0					1																	74648336		2203	4300	6503	SO:0001819	synonymous_variant	127255							g.chr1:74648336C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.459G>A	1.37:g.74648336C>T						LRRIQ3_ENST00000395089.1_Silent_p.A153A|LRRIQ3_ENST00000370911.3_Silent_p.A153A|LRRIQ3_ENST00000370909.2_Intron	p.A153A	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			3	650	-			153			LRRCT.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.459G>A	CCDS41350.1																																																																																				0.388	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		21	34	0	0	0	1	0	21	34				
PFKP	5214	broad.mit.edu	37	10	3146002	3146002	+	Silent	SNP	C	C	T	rs143826212	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3146002C>T	ENST00000381125.4	+	5	562	c.486C>T	c.(484-486)taC>taT	p.Y162Y	PFKP_ENST00000381075.2_Silent_p.Y154Y|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	162	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGCAGAAGTACGCCTACCTCA	0.627													c|||	2	0.000399361	0.0015	0.0	5008	,	,		17265	0.0		0.0	False		,,,				2504	0.0					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(460-462)taC>taT		phosphofructokinase, platelet		T	,	3,4403	6.2+/-15.9	0,3,2200	108.0	82.0	91.0		462,486	-5.5	0.0	10	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	154/777,162/785	3146002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3146002C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.486C>T	10.37:g.3146002C>T						PFKP_ENST00000381125.4_Silent_p.Y162Y	p.Y154Y	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	7	686	+			162					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.462C>T	CCDS7059.1																																																																																				0.627	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		11	24	0	0	0	1	0	11	24				
ZNF532	55205	broad.mit.edu	37	18	56648724	56648724	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56648724A>G	ENST00000336078.4	+	10	4062	c.3286A>G	c.(3286-3288)Acc>Gcc	p.T1096A	ZNF532_ENST00000589288.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591083.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591230.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.T1096A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1096					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTCCAGACGTACCTTTACCAA	0.517																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3286-3288)Acc>Gcc		zinc finger protein 532							162.0	153.0	156.0					18																	56648724		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56648724A>G	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3286A>G	18.37:g.56648724A>G	ENSP00000338217:p.Thr1096Ala					ZNF532_ENST00000591808.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591083.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.T1096A|ZNF532_ENST00000591230.1_Missense_Mutation_p.T1096A	p.T1096A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			10	4062	+			1096					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3286A>G	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704103	0.48412	.	.	ENSG00000074657	ENST00000336078	T	0.01665	4.7	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);	0.234704	0.43260	D	0.000586	T	0.00998	0.0033	N	0.12746	0.255	0.29574	N	0.849643	B;P	0.35745	0.028;0.518	B;B	0.30316	0.017;0.114	T	0.31503	-0.9941	10	0.05959	T	0.93	-6.0495	9.4036	0.38449	0.9196:0.0:0.0804:0.0	.	1096;1096	B3KXW2;Q9HCE3	.;ZN532_HUMAN	A	1096	ENSP00000338217:T1096A	ENSP00000338217:T1096A	T	+	1	0	ZNF532	54799704	0.995000	0.38212	0.929000	0.37066	0.088000	0.18126	4.016000	0.57159	1.992000	0.58205	0.533000	0.62120	ACC		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		8	120	0	0	0	1	0	8	120				
PLAT	5327	broad.mit.edu	37	8	42038144	42038144	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42038144C>T	ENST00000220809.4	-	10	1205	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.A317T|PLAT_ENST00000524009.1_Missense_Mutation_p.A228T|PLAT_ENST00000352041.3_Missense_Mutation_p.A271T|PLAT_ENST00000429710.2_Missense_Mutation_p.A191T|PLAT_ENST00000519510.1_Missense_Mutation_p.A254T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	317	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCGATGTCGGCGAAGAGCCCT	0.642																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(949-951)Gcc>Acc		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						63.0	62.0	62.0					8																	42038144		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42038144C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.949G>A	8.37:g.42038144C>T	ENSP00000220809:p.Ala317Thr					PLAT_ENST00000352041.3_Missense_Mutation_p.A271T|PLAT_ENST00000429710.2_Missense_Mutation_p.A191T|PLAT_ENST00000429089.2_Missense_Mutation_p.A317T|PLAT_ENST00000524009.1_Missense_Mutation_p.A228T|PLAT_ENST00000519510.1_Missense_Mutation_p.A254T|PLAT_ENST00000270189.6_Intron	p.A317T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		10	1205	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	317			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.949G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.999076	0.02128	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.38	-7.52	0.01341	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.631198	0.16307	N	0.220179	T	0.68641	0.3023	N	0.16037	0.36	0.20873	N	0.999835	B;B;B;B;P;B	0.42483	0.424;0.196;0.03;0.14;0.781;0.165	B;B;B;B;B;B	0.35655	0.055;0.055;0.025;0.207;0.131;0.03	T	0.70583	-0.4832	10	0.08381	T	0.77	.	10.515	0.44885	0.1689:0.1819:0.0:0.6492	.	191;228;254;317;271;317	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	T	317;317;271;254;191;228	ENSP00000392045:A317T;ENSP00000220809:A317T;ENSP00000270188:A271T;ENSP00000428886:A254T;ENSP00000407861:A191T;ENSP00000429401:A228T	ENSP00000220809:A317T	A	-	1	0	PLAT	42157301	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-1.743000	0.01834	-1.543000	0.01723	-0.145000	0.13849	GCC		0.642	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		16	22	0	0	0	1	0	16	22				
NLRP13	126204	broad.mit.edu	37	19	56424125	56424125	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56424125A>G	ENST00000342929.3	-	5	1057	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	NLRP13_ENST00000588751.1_Missense_Mutation_p.L353S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	353	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGGGAACCAATTCTTTCTT	0.473																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1057-1059)tTg>tCg		NLR family, pyrin domain containing 13							112.0	106.0	108.0					19																	56424125		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424125A>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1058T>C	19.37:g.56424125A>G	ENSP00000343891:p.Leu353Ser					NLRP13_ENST00000342929.3_Missense_Mutation_p.L353S	p.L353S			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1082	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	353			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1058T>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.084117	0.36758	.	.	ENSG00000173572	ENST00000342929	D	0.82167	-1.58	2.7	1.65	0.23941	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.88548	0.6466	M	0.78344	2.41	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76326	-0.3000	9	0.87932	D	0	.	4.6068	0.12382	0.8275:0.0:0.1725:0.0	.	353	Q86W25	NAL13_HUMAN	S	353	ENSP00000343891:L353S	ENSP00000343891:L353S	L	-	2	0	NLRP13	61115937	0.021000	0.18746	0.000000	0.03702	0.052000	0.14988	3.211000	0.51137	0.270000	0.21984	0.482000	0.46254	TTG		0.473	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		32	67	0	0	0	1	0	32	67				
PTPRK	5796	broad.mit.edu	37	6	128294914	128294914	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128294914C>T	ENST00000368215.3	-	28	4024	c.4025G>A	c.(4024-4026)cGa>cAa	p.R1342Q	PTPRK_ENST00000368227.3_Missense_Mutation_p.R1360Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1361Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1375Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1365Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1349Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1343Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1342	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGCACTTCTCGATGAGAAGC	0.478																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4078-4080)cGa>cAa		protein tyrosine phosphatase, receptor type, K							121.0	111.0	114.0					6																	128294914		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294914C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4025G>A	6.37:g.128294914C>T	ENSP00000357198:p.Arg1342Gln					PTPRK_ENST00000532331.1_Missense_Mutation_p.R1365Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1375Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1343Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1342Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1349Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1361Q	p.R1360Q			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	29	4445	-			1342			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4079G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399475	0.83120	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.21142	0.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.999;0.999;0.992;0.986	T	0.01363	-1.1374	10	0.02654	T	1	.	20.0789	0.97764	0.0:1.0:0.0:0.0	.	1365;1349;1342;1343	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	Q	1343;1360;1365;1349;1361;1342;1375	ENSP00000357209:R1343Q;ENSP00000357210:R1360Q;ENSP00000432973:R1365Q;ENSP00000357196:R1349Q;ENSP00000357193:R1361Q;ENSP00000357198:R1342Q;ENSP00000357190:R1375Q	ENSP00000357190:R1375Q	R	-	2	0	PTPRK	128336607	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.773000	0.85462	2.750000	0.94351	0.655000	0.94253	CGA		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			50	58	0	0	0	1	0	50	58				
CAD	790	broad.mit.edu	37	2	27454973	27454973	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27454973T>C	ENST00000403525.1	+	16	2481	c.2337T>C	c.(2335-2337)cgT>cgC	p.R779R	CAD_ENST00000264705.4_Silent_p.R842R|CAD_ENST00000464159.1_3'UTR			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATGAAGCGTATCATCGCAC	0.552																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2524-2526)cgT>cgC		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						119.0	102.0	108.0					2																	27454973		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454973T>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2337T>C	2.37:g.27454973T>C						CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Silent_p.R779R	p.R842R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			17	2688	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		842			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.2526T>C																																																																																					0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	60	0	0	0	1	0	12	60				
PTBP1	5725	broad.mit.edu	37	19	804675	804675	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:804675C>T	ENST00000349038.4	+	6	652	c.579C>T	c.(577-579)taC>taT	p.Y193Y	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Silent_p.Y193Y|PTBP1_ENST00000356948.6_Silent_p.Y193Y|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	193	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		ACCTCTTCTACCCTGTGACCC	0.677																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(577-579)taC>taT		polypyrimidine tract binding protein 1							67.0	64.0	65.0					19																	804675		2203	4300	6503	SO:0001819	synonymous_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804675C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.579C>T	19.37:g.804675C>T						PTBP1_ENST00000394601.4_Silent_p.Y193Y|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Silent_p.Y193Y	p.Y193Y	NM_002819.4	NP_002810.1	P26599	PTBP1_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)	6	1002	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	193			RRM 2.		Q9BUQ0	Silent	SNP	ENST00000349038.4	37	c.579C>T	CCDS32859.1																																																																																				0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	42	0	0	0	1	0	4	42				
ZNF846	162993	broad.mit.edu	37	19	9872823	9872823	+	Missense_Mutation	SNP	C	C	T	rs547131432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9872823C>T	ENST00000397902.2	-	4	577	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ZNF846_ENST00000586293.1_Missense_Mutation_p.R55H|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	55	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)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CATGAGACTACGTTTGAATAA	0.453																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(163-165)cGt>cAt		zinc finger protein 846							164.0	162.0	163.0					19																	9872823		1885	4122	6007	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9872823C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.164G>A	19.37:g.9872823C>T	ENSP00000380999:p.Arg55His					ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Missense_Mutation_p.R55H|ZNF846_ENST00000588267.1_5'UTR	p.R55H	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			4	577	-			55			KRAB.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.164G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	5.088	0.201952	0.09652	.	.	ENSG00000196605	ENST00000397902	T	0.00792	5.69	2.15	-0.0364	0.13888	Krueppel-associated box (3);	.	.	.	.	T	0.00580	0.0019	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	8	.	.	.	.	3.6293	0.08126	0.1588:0.2619:0.5793:0.0	.	55	Q147U1	ZN846_HUMAN	H	55	ENSP00000380999:R55H	.	R	-	2	0	ZNF846	9733823	0.020000	0.18652	0.002000	0.10522	0.000000	0.00434	-0.063000	0.11655	0.073000	0.16731	-1.315000	0.01301	CGT		0.453	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		36	79	0	0	0	1	0	36	79				
ZNF792	126375	broad.mit.edu	37	19	35449581	35449581	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35449581G>A	ENST00000404801.1	-	4	1564	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	ZNF792_ENST00000605484.1_Missense_Mutation_p.A326V	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTCATGGGCACTTCTGCC	0.463																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1177-1179)gCc>gTc		zinc finger protein 792							52.0	48.0	49.0					19																	35449581		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449581G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1178C>T	19.37:g.35449581G>A	ENSP00000385099:p.Ala393Val					ZNF792_ENST00000605484.1_Missense_Mutation_p.A326V	p.A393V	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1564	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		393					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1178C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	12.41	1.929471	0.34096	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.14893	2.47	2.55	2.55	0.30701	Zinc finger, C2H2 (1);	.	.	.	.	T	0.10809	0.0264	N	0.20881	0.62	0.09310	N	1	B	0.31910	0.346	B	0.14578	0.011	T	0.18366	-1.0339	9	0.87932	D	0	.	11.2502	0.49022	0.0:0.0:1.0:0.0	.	393	Q3KQV3	ZN792_HUMAN	V	393;153	ENSP00000385099:A393V	ENSP00000368487:A153V	A	-	2	0	ZNF792	40141421	0.993000	0.37304	0.003000	0.11579	0.958000	0.62258	2.448000	0.44926	1.740000	0.51718	0.563000	0.77884	GCC		0.463	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		5	36	0	0	0	1	0	5	36				
PBK	55872	broad.mit.edu	37	8	27678146	27678146	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27678146G>A	ENST00000301905.4	-	6	994	c.531C>T	c.(529-531)ggC>ggT	p.G177G	PBK_ENST00000522944.1_Silent_p.G177G	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTTCAAAATCGCCTTTAATTA	0.299																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(529-531)ggC>ggT		PDZ binding kinase							80.0	81.0	81.0					8																	27678146		2203	4293	6496	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27678146G>A	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.531C>T	8.37:g.27678146G>A						PBK_ENST00000522944.1_Silent_p.G177G	p.G177G	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	6	994	-		Ovarian(32;0.000953)	177			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.531C>T	CCDS6063.1																																																																																				0.299	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		42	85	0	0	0	1	0	42	85				
ITGA1	3672	broad.mit.edu	37	5	52201708	52201708	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52201708C>T	ENST00000282588.6	+	12	1883	c.1425C>T	c.(1423-1425)atC>atT	p.I475I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	475					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGGAAACATCAAAATTCTCC	0.368																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1423-1425)atC>atT		integrin, alpha 1							113.0	111.0	112.0					5																	52201708		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52201708C>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1425C>T	5.37:g.52201708C>T							p.I475I	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			12	1883	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	475					B2RNU0	Silent	SNP	ENST00000282588.6	37	c.1425C>T	CCDS3955.1																																																																																				0.368	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		52	85	0	0	0	1	0	52	85				
CAPZB	832	broad.mit.edu	37	1	19775361	19775361	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19775361G>A	ENST00000375142.1	-	2	50				CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000264203.3_Silent_p.G16G|CAPZB_ENST00000433834.1_Intron|CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000401084.2_Intron	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta						actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTCTGGGCTGGCCAAGGCCTG	0.572																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(46-48)ggC>ggT		capping protein (actin filament) muscle Z-line, beta							72.0	66.0	68.0					1																	19775361		876	1991	2867	SO:0001627	intron_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19775361G>A	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.4-29117C>T	1.37:g.19775361G>A						CAPZB_ENST00000375142.1_Intron|CAPZB_ENST00000401084.2_Intron|CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000433834.1_Intron	p.G16G			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	2	541	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	0					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.48C>T	CCDS55579.1																																																																																				0.572	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			11	14	0	0	0	1	0	11	14				
CRAT	1384	broad.mit.edu	37	9	131862813	131862813	+	Missense_Mutation	SNP	G	G	A	rs369950286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131862813G>A	ENST00000318080.2	-	7	1255	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	321					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCGAACCAGCGGTTGCCGCTG	0.652																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(961-963)Cgc>Tgc		carnitine O-acetyltransferase	L-Carnitine(DB00583)	G	CYS/ARG	0,4406		0,0,2203	69.0	62.0	64.0		961	5.5	1.0	9		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRAT	NM_000755.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	321/627	131862813	1,13005	2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131862813G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.961C>T	9.37:g.131862813G>A	ENSP00000315013:p.Arg321Cys						p.R321C	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	7	1255	-			321					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.961C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720050	0.89205	0.0	1.16E-4	ENSG00000095321	ENST00000318080	T	0.69685	-0.42	5.54	5.54	0.83059	.	0.050496	0.85682	D	0.000000	D	0.85358	0.5678	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88598	0.3148	10	0.87932	D	0	-25.6742	13.4364	0.61086	0.0:0.0:0.8433:0.1567	.	321	P43155	CACP_HUMAN	C	321	ENSP00000315013:R321C	ENSP00000315013:R321C	R	-	1	0	CRAT	130902634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.441000	0.73439	2.597000	0.87782	0.555000	0.69702	CGC		0.652	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			13	20	0	0	0	1	0	13	20				
GRM8	2918	broad.mit.edu	37	7	126746587	126746587	+	Silent	SNP	G	G	A	rs146491203		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:126746587G>A	ENST00000339582.2	-	3	1498	c.690C>T	c.(688-690)agC>agT	p.S230S	GRM8_ENST00000405249.1_Silent_p.S230S|GRM8_ENST00000358373.3_Silent_p.S230S|GRM8_ENST00000444921.2_Silent_p.S230S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	230					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCTCCACACCGCTCTCACCAT	0.502										HNSCC(24;0.065)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.001					ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(688-690)agC>agT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	120.0	100.0	107.0		690,690	-6.6	1.0	7	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM8	NM_000845.2,NM_001127323.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	230/909,230/909	126746587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746587G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.690C>T	7.37:g.126746587G>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.S230S|GRM8_ENST00000444921.2_Silent_p.S230S|GRM8_ENST00000405249.1_Silent_p.S230S|GRM8_ENST00000480995.1_5'UTR	p.S230S			O00222	GRM8_HUMAN			3	1498	-		Prostate(267;0.186)	230					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.690C>T	CCDS5794.1																																																																																				0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	14	0	0	0	1	0	7	14				
TECTA	7007	broad.mit.edu	37	11	120996289	120996289	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120996289C>T	ENST00000392793.1	+	8	1753	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	TECTA_ENST00000264037.2_Silent_p.H494H			O75443	TECTA_HUMAN	tectorin alpha	494	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGTGTACCACGCAGACTGGA	0.587																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1480-1482)caC>caT		tectorin alpha							77.0	81.0	80.0					11																	120996289		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996289C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1482C>T	11.37:g.120996289C>T						TECTA_ENST00000264037.2_Silent_p.H494H	p.H494H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1753	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	494			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1482C>T	CCDS8434.1																																																																																				0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		36	47	0	0	0	1	0	36	47				
FAM210A	125228	broad.mit.edu	37	18	13666632	13666632	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13666632C>T	ENST00000322247.3	-	5	1053	c.666G>A	c.(664-666)atG>atA	p.M222I	FAM210A_ENST00000588475.1_5'UTR|AP001010.1_ENST00000580433.1_RNA|FAM210A_ENST00000402563.1_Missense_Mutation_p.M222I	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	222	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GCGGCGTGGACATGTAGCCAT	0.473																																						ENST00000322247.3																			0											c.(664-666)atG>atA		family with sequence similarity 210, member A							94.0	79.0	84.0					18																	13666632		2203	4300	6503	SO:0001583	missense	125228					integral to membrane		g.chr18:13666632C>T	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.666G>A	18.37:g.13666632C>T	ENSP00000323635:p.Met222Ile					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.M222I	p.M222I	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			5	1053	-			222			DUF1279.		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	c.666G>A	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163282	0.38217	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.23754	1.89;1.89	5.95	5.07	0.68467	.	0.089405	0.64402	D	0.000001	T	0.14960	0.0361	N	0.25094	0.71	0.49483	D	0.99979	B	0.30824	0.296	B	0.19946	0.027	T	0.04103	-1.0977	10	0.07644	T	0.81	-22.6426	14.8876	0.70582	0.0:0.9315:0.0:0.0685	.	222	Q96ND0	CR019_HUMAN	I	222	ENSP00000323635:M222I;ENSP00000386115:M222I	ENSP00000323635:M222I	M	-	3	0	C18orf19	13656632	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.880000	0.48530	1.512000	0.48834	0.563000	0.77884	ATG		0.473	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		8	25	0	0	0	1	0	8	25				
ZHX2	22882	broad.mit.edu	37	8	123966145	123966145	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:123966145G>A	ENST00000314393.4	+	3	3230	c.2395G>A	c.(2395-2397)Ggg>Agg	p.G799R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	799					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGACGGTCGGGGAGGAGGA	0.617																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2395-2397)Ggg>Agg		zinc fingers and homeoboxes 2							113.0	90.0	98.0					8																	123966145		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123966145G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2395G>A	8.37:g.123966145G>A	ENSP00000314709:p.Gly799Arg						p.G799R	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3230	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		799						Missense_Mutation	SNP	ENST00000314393.4	37	c.2395G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924650	0.92319	.	.	ENSG00000178764	ENST00000314393	T	0.19105	2.17	6.04	6.04	0.98038	.	0.139116	0.47093	D	0.000256	T	0.16214	0.0390	L	0.27053	0.805	0.47862	D	0.999536	P	0.47910	0.902	B	0.32624	0.149	T	0.02610	-1.1134	10	0.87932	D	0	-16.4741	20.5792	0.99380	0.0:0.0:1.0:0.0	.	799	Q9Y6X8	ZHX2_HUMAN	R	799	ENSP00000314709:G799R	ENSP00000314709:G799R	G	+	1	0	ZHX2	124035326	1.000000	0.71417	0.962000	0.40283	0.897000	0.52465	6.659000	0.74412	2.873000	0.98535	0.561000	0.74099	GGG		0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		8	13	0	0	0	1	0	8	13				
MICALL2	79778	broad.mit.edu	37	7	1481957	1481957	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1481957C>T	ENST00000297508.7	-	7	1757	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	MICALL2_ENST00000405088.4_Missense_Mutation_p.A316T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	528	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AACGCGGATGCCTGAGAGGTA	0.677																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(1582-1584)Gca>Aca		MICAL-like 2							100.0	99.0	100.0					7																	1481957		2203	4299	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1481957C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1582G>A	7.37:g.1481957C>T	ENSP00000297508:p.Ala528Thr					MICALL2_ENST00000405088.4_Missense_Mutation_p.A316T	p.A528T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	7	1757	-		Ovarian(82;0.0253)	528					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.1582G>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	9.594	1.126900	0.20959	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.68479	2.46;-0.33	3.18	1.28	0.21552	.	0.492896	0.15065	N	0.282562	T	0.38453	0.1041	N	0.11201	0.11	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.14023	0.01;0.004	T	0.20940	-1.0260	10	0.09338	T	0.73	.	5.8028	0.18424	0.0:0.7212:0.0:0.2788	.	528;316	Q8IY33;D3YTD2	MILK2_HUMAN;.	T	316;528	ENSP00000385928:A316T;ENSP00000297508:A528T	ENSP00000297508:A528T	A	-	1	0	MICALL2	1448483	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.278000	0.01159	0.164000	0.19529	0.561000	0.74099	GCA		0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		31	38	0	0	0	1	0	31	38				
ABCA6	23460	broad.mit.edu	37	17	67108324	67108324	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:67108324C>T	ENST00000284425.2	-	16	2306	c.2132G>A	c.(2131-2133)aGt>aAt	p.S711N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	711	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGTCTTTACCTTAGGTGATA	0.383																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.e16+1		ATP-binding cassette, sub-family A (ABC1), member 6							151.0	154.0	153.0					17																	67108324		2203	4300	6503	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67108324C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2132+1G>A	17.37:g.67108324C>T							p.S711_splice	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			16	2306	-	Breast(10;5.65e-12)		711			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.2132_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199403	0.58126	.	.	ENSG00000154262	ENST00000284425	T	0.64803	-0.12	4.76	3.78	0.43462	ABC transporter-like (1);	0.198517	0.35067	N	0.003473	T	0.80439	0.4623	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83731	0.0198	9	.	.	.	.	13.9006	0.63802	0.1533:0.8467:0.0:0.0	.	711	Q8N139	ABCA6_HUMAN	N	711	ENSP00000284425:S711N	.	S	-	2	0	ABCA6	64619919	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	6.512000	0.73737	1.346000	0.45694	0.655000	0.94253	AGT		0.383	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	64	93	0	0	0	1	0	64	93				
RET	5979	broad.mit.edu	37	10	43597968	43597968	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43597968C>A	ENST00000355710.3	+	3	748	c.516C>A	c.(514-516)ccC>ccA	p.P172P	RET_ENST00000340058.5_Silent_p.P172P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	172	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGACAAGGCCCTCCTTCCGCA	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(514-516)ccC>ccA		ret proto-oncogene	Sunitinib(DB01268)						102.0	84.0	90.0					10																	43597968		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597968C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.516C>A	10.37:g.43597968C>A						RET_ENST00000340058.5_Silent_p.P172P	p.P172P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	748	+		Ovarian(717;0.0423)	172			Cadherin.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.516C>A	CCDS7200.1																																																																																				0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	16	1	0	0.00307968	1	0.00311927	8	16				
PIGR	5284	broad.mit.edu	37	1	207106341	207106341	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207106341C>T	ENST00000356495.4	-	7	2059	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	626					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGCCGGAATCCACAGATGCT	0.562																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1876-1878)Gat>Aat		polymeric immunoglobulin receptor							121.0	117.0	118.0					1																	207106341		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207106341C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1876G>A	1.37:g.207106341C>T	ENSP00000348888:p.Asp626Asn						p.D626N	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			7	2059	-			626					Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1876G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820934	0.16678	.	.	ENSG00000162896	ENST00000356495	T	0.15603	2.41	4.26	1.23	0.21249	.	0.705821	0.13631	N	0.373756	T	0.11153	0.0272	L	0.34521	1.04	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.25813	-1.0121	10	0.42905	T	0.14	-13.331	4.5539	0.12128	0.0:0.6141:0.1821:0.2038	.	626	P01833	PIGR_HUMAN	N	626	ENSP00000348888:D626N	ENSP00000348888:D626N	D	-	1	0	PIGR	205172964	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.014000	0.13333	0.298000	0.22638	0.561000	0.74099	GAT		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		13	53	0	0	0	1	0	13	53				
KIAA1024	23251	broad.mit.edu	37	15	79749053	79749053	+	Silent	SNP	C	C	T	rs181976434		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79749053C>T	ENST00000305428.3	+	2	639	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	188						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAAACCGCGCCGCTTCCC	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19403	0.0		0.0	False		,,,				2504	0.0					ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(562-564)cgC>cgT		KIAA1024							49.0	53.0	52.0					15																	79749053		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749053C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.564C>T	15.37:g.79749053C>T							p.R188R	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	639	+			188					A7MD43	Silent	SNP	ENST00000305428.3	37	c.564C>T	CCDS32306.1																																																																																				0.572	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		16	24	0	0	0	1	0	16	24				
ILK	3611	broad.mit.edu	37	11	6631830	6631830	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6631830G>A	ENST00000396751.2	+	12	1803	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ILK_ENST00000420936.2_Missense_Mutation_p.M449I|ILK_ENST00000528995.1_Missense_Mutation_p.M388I|ILK_ENST00000299421.4_Missense_Mutation_p.M449I|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Missense_Mutation_p.M315I|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	449					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TTGAGAAGATGCAGGACAAGT	0.512																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(1345-1347)atG>atA		integrin-linked kinase							84.0	86.0	85.0					11																	6631830		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6631830G>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1347G>A	11.37:g.6631830G>A	ENSP00000379975:p.Met449Ile					ILK_ENST00000299421.4_Missense_Mutation_p.M449I|ILK_ENST00000537806.1_Missense_Mutation_p.M315I|ILK_ENST00000420936.2_Missense_Mutation_p.M449I|ILK_ENST00000528995.1_Missense_Mutation_p.M388I	p.M449I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	12	1803	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	449					B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.1347G>A	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977503	0.74360	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	T;D;T;T;T	0.81739	-1.11;-1.53;-1.11;-1.18;-1.11	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	L	0.47016	1.485	0.80722	D	1	P;D	0.61697	0.743;0.99	P;D	0.71656	0.462;0.974	D	0.87601	0.2497	10	0.87932	D;D	0;0	.	18.1648	0.89722	0.0:0.0:1.0:0.0	.	388;449	B7Z418;Q13418	.;ILK_HUMAN	I	449;315;449;388;449	ENSP00000299421:M449I;ENSP00000439606:M315I;ENSP00000403487:M449I;ENSP00000435323:M388I;ENSP00000379975:M449I	ENSP00000299421:M449I;ENSP00000299421:M449I	M	+	3	0	ILK	6588406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.869000	0.92326	2.753000	0.94483	0.650000	0.86243	ATG		0.512	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		22	33	0	0	0	1	0	22	33				
LRP6	4040	broad.mit.edu	37	12	12303922	12303922	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12303922C>T	ENST00000261349.4	-	13	2918	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M	LRP6_ENST00000543091.1_Missense_Mutation_p.V948M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	948	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCATCAATCACCATGCGGTTG	0.468																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(2842-2844)Gtg>Atg		low density lipoprotein receptor-related protein 6							127.0	112.0	117.0					12																	12303922		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12303922C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2842G>A	12.37:g.12303922C>T	ENSP00000261349:p.Val948Met					LRP6_ENST00000543091.1_Missense_Mutation_p.V948M	p.V948M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			13	2918	-		Prostate(47;0.0865)	948			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2842G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400196	0.83120	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	5.31	4.41	0.53225	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000081	D	0.87787	0.6265	N	0.20574	0.59	0.80722	D	1	P;D	0.58620	0.702;0.983	B;P	0.53266	0.213;0.722	D	0.86747	0.1958	10	0.33141	T	0.24	.	14.3236	0.66505	0.0:0.927:0.0:0.073	.	948;948	F5H7J9;O75581	.;LRP6_HUMAN	M	948	ENSP00000261349:V948M;ENSP00000442472:V948M	ENSP00000261349:V948M	V	-	1	0	LRP6	12195189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.478000	0.83669	0.585000	0.79938	GTG		0.468	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			17	29	0	0	0	1	0	17	29				
BUB1	699	broad.mit.edu	37	2	111398967	111398967	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:111398967T>C	ENST00000302759.6	-	22	2818	c.2700A>G	c.(2698-2700)agA>agG	p.R900R	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000535254.1_Silent_p.R880R|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	900	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTAAAGCATTCTCATAGCAA	0.378																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2638-2640)agA>agG		BUB1 mitotic checkpoint serine/threonine kinase							125.0	123.0	124.0					2																	111398967		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398967T>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2700A>G	2.37:g.111398967T>C						BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Silent_p.R900R|BUB1_ENST00000409311.1_Intron	p.R880R	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2707	-		Ovarian(717;0.0822)	900			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2640A>G	CCDS33273.1																																																																																				0.378	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		31	44	0	0	0	1	0	31	44				
HELZ	9931	broad.mit.edu	37	17	65124824	65124824	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65124824C>T	ENST00000358691.5	-	24	3496	c.3330G>A	c.(3328-3330)cgG>cgA	p.R1110R	HELZ_ENST00000580168.1_Silent_p.R1111R	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1110						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTCTTAGAGCCCGGGGGATAA	0.428																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3328-3330)cgG>cgA		helicase with zinc finger							174.0	166.0	168.0					17																	65124824		1848	4093	5941	SO:0001819	synonymous_variant	9931							g.chr17:65124824C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3330G>A	17.37:g.65124824C>T						HELZ_ENST00000580168.1_Silent_p.R1111R	p.R1110R	NM_014877.3	NP_055692.2					24	3496	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.3330G>A	CCDS42374.1																																																																																				0.428	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		34	170	0	0	0	1	0	34	170				
PPAN	56342	broad.mit.edu	37	19	10221710	10221710	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10221710C>A	ENST00000253107.7	+	12	1397	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Intron|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Intron|PPAN_ENST00000393793.1_Missense_Mutation_p.L378I|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.L431I	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	431					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CAGGGGTCGCCTTTGTGACCA	0.662																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1291-1293)Ctt>Att									44.0	46.0	45.0					19																	10221710		2203	4300	6503	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10221710C>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1291C>A	19.37:g.10221710C>A	ENSP00000253107:p.Leu431Ile					PPAN-P2RY11_ENST00000393796.4_Intron|PPAN_ENST00000393793.1_Missense_Mutation_p.L378I|PPAN_ENST00000556468.1_Intron|PPAN_ENST00000253107.7_Missense_Mutation_p.L431I	p.L431I	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		12	1463	+			431					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1291C>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	7.940	0.742604	0.15642	.	.	ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000253107;ENST00000342696;ENST00000393793	T;T;T	0.31247	1.5;1.54;1.54	4.9	-4.64	0.03349	.	.	.	.	.	T	0.14270	0.0345	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.15141	0.012;0.012	B;B	0.12156	0.007;0.007	T	0.28138	-1.0053	9	0.34782	T	0.22	-0.7847	1.3545	0.02179	0.1903:0.3849:0.206:0.2188	.	431;431	C9J3F9;Q9NQ55	.;SSF1_HUMAN	I	431;431;431;378	ENSP00000411918:L431I;ENSP00000253107:L431I;ENSP00000377382:L378I	ENSP00000253107:L431I	L	+	1	0	PPAN;PPAN-P2RY11	10082710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.108000	0.15396	-0.422000	0.07405	-0.254000	0.11334	CTT		0.662	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	26	1	0	8.12818e-05	1	8.34155e-05	7	26				
ZNF536	9745	broad.mit.edu	37	19	30934839	30934839	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30934839G>A	ENST00000355537.3	+	2	517	c.370G>A	c.(370-372)Gcc>Acc	p.A124T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	124					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGACGACGCCCGCAAGAA	0.632																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(370-372)Gcc>Acc		zinc finger protein 536							67.0	53.0	58.0					19																	30934839		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934839G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.370G>A	19.37:g.30934839G>A	ENSP00000347730:p.Ala124Thr						p.A124T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	517	+	Esophageal squamous(110;0.0834)		124					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.370G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417360	0.42918	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	N	0.14661	0.345	0.58432	D	0.999995	D;D	0.89917	0.991;1.0	P;D	0.87578	0.757;0.998	T	0.09596	-1.0667	10	0.38643	T	0.18	-28.7366	20.0693	0.97712	0.0:0.0:1.0:0.0	.	124;124	A7E228;O15090	.;ZN536_HUMAN	T	124	ENSP00000347730:A124T	ENSP00000347730:A124T	A	+	1	0	ZNF536	35626679	1.000000	0.71417	0.949000	0.38748	0.004000	0.04260	8.054000	0.89451	2.758000	0.94735	0.563000	0.77884	GCC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	20	0	0	0	1	0	11	20				
RIMS1	22999	broad.mit.edu	37	6	72967959	72967959	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:72967959C>T	ENST00000521978.1	+	17	2902	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	RIMS1_ENST00000401910.3_Missense_Mutation_p.R441C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R442C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.R967C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R361C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R968C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R967C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R967C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R967C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R968C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R968C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R427C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	968					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCGCGTTCACGTTTACCAAA	0.433																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(2902-2904)Cgt>Tgt		regulating synaptic membrane exocytosis 1							76.0	72.0	73.0					6																	72967959		1945	4141	6086	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967959C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2902C>T	6.37:g.72967959C>T	ENSP00000428417:p.Arg968Cys					RIMS1_ENST00000348717.5_Missense_Mutation_p.R967C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R968C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R441C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R968C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R361C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R967C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R427C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R967C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R968C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R442C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R967C	p.R968C			Q86UR5	RIMS1_HUMAN			17	2902	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	968					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2902C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415501|4.415501	0.83449|0.83449	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.23950|.	2.19;2.47;2.18;2.47;2.38;2.36;2.42;2.23;2.34;2.33;2.41;2.4;2.39;1.88|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.64091|0.64091	0.2567|0.2567	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P;D;D;D;D;D|.	0.91635|.	0.915;0.985;0.997;0.997;0.95;0.999;0.644;0.972;0.988;0.993;0.997;0.997|.	T|T	0.61686|0.61686	-0.7012|-0.7012	10|5	0.52906|.	T|.	0.07|.	-14.5517|-14.5517	18.729|18.729	0.91728|0.91728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	427;442;968;427;441;967;220;968;967;221;968;968|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	968;968;968;967;968;967;968;967;968;967;967;968;441;442;361;361;427;193|541	ENSP00000430101:R968C;ENSP00000275037:R967C;ENSP00000264839:R968C;ENSP00000429959:R967C;ENSP00000430408:R968C;ENSP00000430502:R967C;ENSP00000430932:R967C;ENSP00000428417:R968C;ENSP00000385649:R441C;ENSP00000428328:R442C;ENSP00000411235:R361C;ENSP00000389503:R361C;ENSP00000428367:R427C;ENSP00000359448:R193C|.	ENSP00000264839:R968C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73024680|73024680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.641000|4.641000	0.61375|0.61375	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.433	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	17	0	0	0	1	0	12	17				
KAL1	3730	broad.mit.edu	37	X	8522091	8522091	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:8522091G>A	ENST00000262648.3	-	9	1405	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	419					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TCTTTGAAAAGGGAGTTGTGT	0.413																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1255-1257)cCt>cTt		Kallmann syndrome 1 sequence							126.0	115.0	119.0					X																	8522091		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8522091G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1256C>T	X.37:g.8522091G>A	ENSP00000262648:p.Pro419Leu						p.P419L	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			9	1405	-			419					B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1256C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874418	0.33069	.	.	ENSG00000011201	ENST00000262648	T	0.75260	-0.92	4.37	3.5	0.40072	.	0.190201	0.46442	D	0.000288	T	0.71863	0.3390	M	0.73598	2.24	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.61535	-0.7043	10	0.37606	T	0.19	-5.2772	11.378	0.49739	0.0:0.1804:0.8196:0.0	.	419	P23352	KALM_HUMAN	L	419	ENSP00000262648:P419L	ENSP00000262648:P419L	P	-	2	0	KAL1	8482091	0.951000	0.32395	0.002000	0.10522	0.888000	0.51559	2.902000	0.48703	0.663000	0.31027	0.544000	0.68410	CCT		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		30	3	0	0	0	1	0	30	3				
GRIP1	23426	broad.mit.edu	37	12	66849299	66849299	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66849299T>C	ENST00000398016.3	-	10	1156	c.1088A>G	c.(1087-1089)tAc>tGc	p.Y363C	GRIP1_ENST00000286445.7_Missense_Mutation_p.Y415C|GRIP1_ENST00000359742.4_Missense_Mutation_p.Y415C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCAGGCTGTATGCACTCAT	0.532																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1243-1245)tAc>tGc		glutamate receptor interacting protein 1							131.0	133.0	132.0					12																	66849299		2055	4198	6253	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66849299T>C	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1088A>G	12.37:g.66849299T>C	ENSP00000381098:p.Tyr363Cys					GRIP1_ENST00000398016.3_Missense_Mutation_p.Y363C|GRIP1_ENST00000286445.7_Missense_Mutation_p.Y415C	p.Y415C			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	11	1484	-			415					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1244A>G	CCDS41807.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.07|17.07|17.07	3.294046|3.294046|3.294046	0.60086|0.60086|0.60086	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433	.|.|T;T;T;T;T	.|.|0.20069	.|.|2.1;2.16;2.16;2.11;2.17	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.34600|0.34600|0.34600	0.0903|0.0903|0.0903	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.48511|0.48511|0.48511	D|D|D	0.999663|0.999663|0.999663	.|.|D;D;D	.|.|0.65815	.|.|0.995;0.967;0.995	.|.|P;P;P	.|.|0.60789	.|.|0.879;0.818;0.846	T|T|T	0.02805|0.02805|0.02805	-1.1108|-1.1108|-1.1108	5|5|9	.|.|.	.|.|.	.|.|.	-14.8423|-14.8423|-14.8423	11.5331|11.5331|11.5331	0.50622|0.50622|0.50622	0.0:0.0:0.1495:0.8505|0.0:0.0:0.1495:0.8505|0.0:0.0:0.1495:0.8505	.|.|.	.|.|363;363;415	.|.|F5H4N6;Q9Y3R0-3;Q9Y3R0-2	.|.|.;.;.	M|A|C	182|230|363;415;415;363;307	.|.|ENSP00000381098:Y363C;ENSP00000352780:Y415C;ENSP00000286445:Y415C;ENSP00000446047:Y363C;ENSP00000446024:Y307C	.|.|.	I|T|Y	-|-|-	3|1|2	3|0|0	GRIP1|GRIP1|GRIP1	65135566|65135566|65135566	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	6.248000|6.248000|6.248000	0.72418|0.72418|0.72418	2.141000|2.141000|2.141000	0.66446|0.66446|0.66446	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	ATA|ACA|TAC		0.532	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			22	34	0	0	0	1	0	22	34				
TNC	3371	broad.mit.edu	37	9	117853141	117853141	+	Missense_Mutation	SNP	C	C	T	rs141377575		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117853141C>T	ENST00000350763.4	-	2	568	c.157G>A	c.(157-159)Gtt>Att	p.V53I	TNC_ENST00000535648.1_Missense_Mutation_p.V53I|TNC_ENST00000341037.4_Missense_Mutation_p.V53I|TNC_ENST00000537320.1_Missense_Mutation_p.V53I|TNC_ENST00000345230.3_Missense_Mutation_p.V53I|TNC_ENST00000340094.3_Missense_Mutation_p.V53I|TNC_ENST00000423613.2_Missense_Mutation_p.V53I|TNC_ENST00000346706.3_Missense_Mutation_p.V53I|TNC_ENST00000542877.1_Missense_Mutation_p.V53I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	53					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATGTTGTAAACGTGGTTAAAC	0.572																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(157-159)Gtt>Att		tenascin C		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106.0	103.0	104.0		157	0.8	0.7	9	dbSNP_134	104	0,8600		0,0,4300	no	missense	TNC	NM_002160.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	53/2202	117853141	1,13005	2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853141C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.157G>A	9.37:g.117853141C>T	ENSP00000265131:p.Val53Ile					TNC_ENST00000345230.3_Missense_Mutation_p.V53I|TNC_ENST00000423613.2_Missense_Mutation_p.V53I|TNC_ENST00000535648.1_Missense_Mutation_p.V53I|TNC_ENST00000537320.1_Missense_Mutation_p.V53I|TNC_ENST00000346706.3_Missense_Mutation_p.V53I|TNC_ENST00000340094.3_Missense_Mutation_p.V53I|TNC_ENST00000542877.1_Missense_Mutation_p.V53I|TNC_ENST00000341037.4_Missense_Mutation_p.V53I	p.V53I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	568	-			53					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.157G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831678	0.32421	2.27E-4	0.0	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877;ENST00000534839	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.84	0.843	0.18935	.	0.171775	0.50627	N	0.000110	T	0.20700	0.0498	L	0.28608	0.87	0.44677	D	0.997661	P;B	0.40107	0.703;0.356	B;B	0.33890	0.172;0.107	T	0.03619	-1.1019	10	0.31617	T	0.26	.	9.963	0.41708	0.0:0.6595:0.0:0.3405	.	53;53	E9PC84;P24821	.;TENA_HUMAN	I	53	ENSP00000344400:V53I;ENSP00000438152:V53I;ENSP00000344555:V53I;ENSP00000345861:V53I;ENSP00000265131:V53I;ENSP00000339553:V53I;ENSP00000411406:V53I;ENSP00000443478:V53I;ENSP00000442242:V53I;ENSP00000443469:V53I	ENSP00000344400:V53I	V	-	1	0	TNC	116892962	0.982000	0.34865	0.685000	0.30070	0.144000	0.21451	2.628000	0.46477	0.376000	0.24707	0.655000	0.94253	GTT		0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		32	48	0	0	0	1	0	32	48				
TRPS1	7227	broad.mit.edu	37	8	116599520	116599520	+	Missense_Mutation	SNP	C	C	T	rs575384609		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116599520C>T	ENST00000220888.5	-	4	2528	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRPS1_ENST00000520276.1_Missense_Mutation_p.R794H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R544H|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R803H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	790	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTCACATTGCGAAGGTCATC	0.567									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2407-2409)cGc>cAc		trichorhinophalangeal syndrome I							256.0	264.0	262.0					8																	116599520		1980	4144	6124	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599520C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2369G>A	8.37:g.116599520C>T	ENSP00000220888:p.Arg790His					TRPS1_ENST00000220888.5_Missense_Mutation_p.R790H|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790H|TRPS1_ENST00000520276.1_Missense_Mutation_p.R794H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R544H	p.R803H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	2985	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		790			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2408G>A		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768267	0.69878	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98732	-5.1;-5.07;-5.03;-5.07;0.62	5.76	5.76	0.90799	.	0.117655	0.56097	D	0.000025	D	0.98305	0.9438	L	0.29908	0.895	0.48087	D	0.999588	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.62955	0.909;0.813;0.909	D	0.99900	1.1160	10	0.87932	D	0	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	794;790;803	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	803;790;544;794;790	ENSP00000379065:R803H;ENSP00000220888:R790H;ENSP00000428910:R544H;ENSP00000428680:R794H;ENSP00000429174:R790H	ENSP00000220888:R790H	R	-	2	0	TRPS1	116668695	1.000000	0.71417	0.951000	0.38953	0.329000	0.28539	6.223000	0.72257	2.726000	0.93360	0.655000	0.94253	CGC		0.567	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		30	159	0	0	0	1	0	30	159				
CELSR2	1952	broad.mit.edu	37	1	109794459	109794459	+	Silent	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109794459C>G	ENST00000271332.3	+	1	1819	c.1758C>G	c.(1756-1758)ggC>ggG	p.G586G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	586	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGACCATGGCACTCCAGCAC	0.542																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1756-1758)ggC>ggG		cadherin, EGF LAG seven-pass G-type receptor 2							114.0	101.0	105.0					1																	109794459		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794459C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1758C>G	1.37:g.109794459C>G							p.G586G	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1819	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	586			Cadherin 4.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1758C>G	CCDS796.1																																																																																				0.542	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	20	0	0	0	1	0	12	20				
TDRD6	221400	broad.mit.edu	37	6	46656678	46656678	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46656678C>T	ENST00000316081.6	+	1	813	c.813C>T	c.(811-813)agC>agT	p.S271S	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.S271S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	271					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCTCCGCAGCGTCTCGCAGG	0.627																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(811-813)agC>agT		tudor domain containing 6							31.0	27.0	29.0					6																	46656678		2202	4300	6502	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656678C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.813C>T	6.37:g.46656678C>T						TDRD6_ENST00000316081.6_Silent_p.S271S	p.S271S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1067	+			271					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.813C>T	CCDS34470.1																																																																																				0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	6	0	0	0	1	0	4	6				
TBC1D25	4943	broad.mit.edu	37	X	48417680	48417680	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48417680C>T	ENST00000376771.4	+	5	992	c.651C>T	c.(649-651)ccC>ccT	p.P217P	TBC1D25_ENST00000476141.1_3'UTR|snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	217					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTCCCGACCCGAGGAGTTGC	0.587																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(649-651)ccC>ccT		TBC1 domain family, member 25							77.0	58.0	64.0					X																	48417680		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48417680C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.651C>T	X.37:g.48417680C>T						TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR	p.P217P	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			5	992	+			217					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.651C>T	CCDS35242.1																																																																																				0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		5	2	0	0	0	1	0	5	2				
TACR1	6869	broad.mit.edu	37	2	75425955	75425955	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75425955C>T	ENST00000305249.5	-	1	871	c.106G>A	c.(106-108)Gca>Aca	p.A36T	TACR1_ENST00000409848.3_Missense_Mutation_p.A36T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	36					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGGCAGCTGCCCAAAGGACA	0.527																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(106-108)Gca>Aca		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						146.0	131.0	136.0					2																	75425955		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425955C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.106G>A	2.37:g.75425955C>T	ENSP00000303522:p.Ala36Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A36T	p.A36T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	871	-			36					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.106G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529206	0.44969	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.38077	1.16;1.16	5.5	5.5	0.81552	.	0.048699	0.85682	D	0.000000	T	0.36110	0.0955	M	0.71296	2.17	0.58432	D	0.999999	P	0.37997	0.614	B	0.35240	0.198	T	0.10870	-1.0611	10	0.30078	T	0.28	.	11.7769	0.51991	0.1751:0.8249:0.0:0.0	.	36	P25103	NK1R_HUMAN	T	36	ENSP00000303522:A36T;ENSP00000386448:A36T	ENSP00000303522:A36T	A	-	1	0	TACR1	75279463	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.778000	0.38614	2.854000	0.98071	0.655000	0.94253	GCA		0.527	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		7	8	0	0	0	1	0	7	8				
EOGT	285203	broad.mit.edu	37	3	69056865	69056865	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:69056865G>A	ENST00000383701.3	-	6	1161	c.419C>T	c.(418-420)aCg>aTg	p.T140M	EOGT_ENST00000540764.1_Splice_Site_p.T39M|EOGT_ENST00000295571.5_Splice_Site_p.T140M|EOGT_ENST00000540955.1_De_novo_Start_OutOfFrame	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	140					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATACCCACCGTTTCCTTAGG	0.403																																						ENST00000540955.1																			0													EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							106.0	105.0	105.0					3																	69056865		2203	4300	6503	SO:0001630	splice_region_variant	285203							g.chr3:69056865G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.420+1C>T	3.37:g.69056865G>A						EOGT_ENST00000540764.1_Splice_Site_p.T39_splice|EOGT_ENST00000295571.5_Splice_Site_p.T140_splice|EOGT_ENST00000383701.3_Splice_Site_p.T140_splice								0	850	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Translation_Start_Site	SNP	ENST00000383701.3	37			.	.	.	.	.	.	.	.	.	.	G	10.72	1.430896	0.25726	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	.	.	.	5.09	-7.07	0.01563	.	0.854162	0.10818	N	0.630782	T	0.32585	0.0834	L	0.43152	1.355	0.24826	N	0.992551	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.14364	-1.0475	9	0.45353	T	0.12	.	8.785	0.34814	0.5818:0.0:0.2371:0.1811	.	140;140	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	140;140;39	.	ENSP00000295571:T140M	T	-	2	0	C3orf64	69139555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.437000	0.02419	-1.889000	0.01112	-0.216000	0.12614	ACG		0.403	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	Missense_Mutation	43	76	0	0	0	1	0	43	76				
SLC25A10	1468	broad.mit.edu	37	17	79682084	79682084	+	Silent	SNP	C	C	T	rs201255090	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79682084C>T	ENST00000350690.5	+	2	281	c.195C>T	c.(193-195)agC>agT	p.S65S	SLC25A10_ENST00000331531.5_Silent_p.S65S|SLC25A10_ENST00000541223.1_Silent_p.S220S|SLC25A10_ENST00000571730.1_Silent_p.S220S|SLC25A10_ENST00000545862.1_Silent_p.S22S	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	65					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCGGCCTGAGCGCCTCGCTGT	0.647													C|||	4	0.000798722	0.003	0.0	5008	,	,		19740	0.0		0.0	False		,,,				2504	0.0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(193-195)agC>agT		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	C		6,4388	11.4+/-27.6	0,6,2191	52.0	36.0	41.0		195	-3.9	1.0	17		41	0,8598		0,0,4299	no	coding-synonymous	SLC25A10	NM_012140.3		0,6,6490	TT,TC,CC		0.0,0.1365,0.0462		65/288	79682084	6,12986	2197	4299	6496	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682084C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.195C>T	17.37:g.79682084C>T						SLC25A10_ENST00000571730.1_Silent_p.S220S|SLC25A10_ENST00000350690.5_Silent_p.S65S|SLC25A10_ENST00000545862.1_Silent_p.S22S|SLC25A10_ENST00000541223.1_Silent_p.S220S	p.S65S	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	315	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		65					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.195C>T	CCDS11786.1																																																																																				0.647	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			3	14	0	0	0	1	0	3	14				
TTN	7273	broad.mit.edu	37	2	179452941	179452941	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179452941G>A	ENST00000591111.1	-	255	58494	c.58270C>T	c.(58270-58272)Cct>Tct	p.P19424S	TTN_ENST00000342992.6_Missense_Mutation_p.P18497S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12125S|TTN_ENST00000460472.2_Missense_Mutation_p.P12000S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21065S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12192S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19424					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGACCAGGTGGCTCTGAA	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63193-63195)Cct>Tct		titin							49.0	47.0	48.0					2																	179452941		1855	4087	5942	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452941G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58270C>T	2.37:g.179452941G>A	ENSP00000465570:p.Pro19424Ser					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12192S|TTN_ENST00000591111.1_Missense_Mutation_p.P19424S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12000S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18497S|TTN_ENST00000359218.5_Missense_Mutation_p.P12125S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.P21065S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		305	63417	-			19424			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63193C>T		.	.	.	.	.	.	.	.	.	.	G	14.10	2.433916	0.43224	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	6.03	6.03	0.97812	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92143	0.7509	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	D	0.93193	0.6585	9	0.87932	D	0	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	12000;12125;12192;19424	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	18497;12000;12192;12125;11998	ENSP00000343764:P18497S;ENSP00000434586:P12000S;ENSP00000340554:P12192S;ENSP00000352154:P12125S	ENSP00000340554:P12192S	P	-	1	0	TTN	179161187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.814000	0.99346	2.868000	0.98415	0.555000	0.69702	CCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	32	0	0	0	1	0	12	32				
CYP2B7P	1556	broad.mit.edu	37	19	41450288	41450288	+	RNA	SNP	G	G	A	rs190966934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41450288G>A	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							GCCCTCCAGCGCTTGATGACC	0.498																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41450288G>A																													19.37:g.41450288G>A								NR_001278.1						0	1071	+									RNA	SNP	ENST00000597260.1	37																																																																																						0.498	AC092071.1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000463563.1			4	16	0	0	0	1	0	4	16				
TUBD1	51174	broad.mit.edu	37	17	57952052	57952052	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57952052T>C	ENST00000592426.1	-	5	782	c.782A>G	c.(781-783)gAg>gGg	p.E261G	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.E261G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.E261G|TUBD1_ENST00000539018.1_Missense_Mutation_p.E45G|TUBD1_ENST00000340993.6_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	261					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AACTAAATGCTCCATTAAGTC	0.348																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(781-783)gAg>gGg		tubulin, delta 1							125.0	120.0	122.0					17																	57952052		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57952052T>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.782A>G	17.37:g.57952052T>C	ENSP00000468518:p.Glu261Gly					TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.E261G|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.E45G|TUBD1_ENST00000592426.1_Missense_Mutation_p.E261G	p.E261G	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1059	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		261					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.782A>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027282	0.35797	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.77620	-1.11;-0.8	5.62	4.47	0.54385	Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.318936	0.41294	D	0.000905	T	0.75027	0.3794	M	0.62723	1.935	0.37135	D	0.901459	B;B	0.20780	0.012;0.048	B;B	0.19148	0.022;0.024	T	0.78298	-0.2258	10	0.72032	D	0.01	-17.087	13.9979	0.64414	0.0:0.0:0.1343:0.8657	.	261;261	E9PCA7;Q9UJT1	.;TBD_HUMAN	G	261;261;45	ENSP00000320797:E261G;ENSP00000377785:E261G	ENSP00000320797:E261G	E	-	2	0	TUBD1	55306834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.654000	0.54453	2.142000	0.66516	0.460000	0.39030	GAG		0.348	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		41	68	0	0	0	1	0	41	68				
FN3K	64122	broad.mit.edu	37	17	80696418	80696418	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80696418G>A	ENST00000300784.7	+	2	257	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	65					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCAGGAGCACGGGCCTGGTGC	0.632																																					Melanoma(10;391 597 14592 32548 32749)	ENST00000300784.7																			0				central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(193-195)acG>acA		fructosamine 3 kinase							53.0	57.0	55.0					17																	80696418		2203	4300	6503	SO:0001819	synonymous_variant	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80696418G>A	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.195G>A	17.37:g.80696418G>A							p.T65T	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		2	257	+	Breast(20;0.000523)|all_neural(118;0.0952)		65						Silent	SNP	ENST00000300784.7	37	c.195G>A	CCDS11818.1																																																																																				0.632	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		20	28	0	0	0	1	0	20	28				
ITLN1	55600	broad.mit.edu	37	1	160851031	160851031	+	Missense_Mutation	SNP	C	C	A	rs200950973		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160851031C>A	ENST00000326245.3	-	5	592	c.477G>T	c.(475-477)caG>caT	p.Q159H	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	159	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCCAGTGCTGCATGGGGG	0.562																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(475-477)caG>caT		intelectin 1 (galactofuranose binding)							182.0	149.0	160.0					1																	160851031		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851031C>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.477G>T	1.37:g.160851031C>A	ENSP00000323587:p.Gln159His					ITLN1_ENST00000487531.1_5'UTR	p.Q159H	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	592	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		159			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.477G>T	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578329	0.03854	.	.	ENSG00000179914	ENST00000326245	T	0.18174	2.23	4.17	-3.68	0.04463	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	1.090500	0.07160	N	0.850535	T	0.03871	0.0109	L	0.53671	1.685	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.43540	-0.9385	10	0.35671	T	0.21	0.3228	0.1328	0.00075	0.2542:0.2141:0.2509:0.2808	.	159	Q8WWA0	ITLN1_HUMAN	H	159	ENSP00000323587:Q159H	ENSP00000323587:Q159H	Q	-	3	2	ITLN1	159117655	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.515000	0.02252	-0.665000	0.05317	-0.345000	0.07892	CAG		0.562	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		13	58	1	0	4.93089e-13	1	5.3475e-13	13	58				
ZNF410	57862	broad.mit.edu	37	14	74371737	74371737	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74371737G>T	ENST00000555044.1	+	7	1058	c.864G>T	c.(862-864)aaG>aaT	p.K288N	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.K305N|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.K235N|Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.K288N|RP5-1021I20.6_ENST00000602874.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.K215N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTGTGGTAAGCAGTTTACTA	0.527																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(862-864)aaG>aaT		zinc finger protein 410							117.0	101.0	107.0					14																	74371737		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74371737G>T	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.864G>T	14.37:g.74371737G>T	ENSP00000451763:p.Lys288Asn					ZNF410_ENST00000442160.3_Missense_Mutation_p.K305N|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.K288N|ZNF410_ENST00000540593.1_Missense_Mutation_p.K215N|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.K235N	p.K288N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	7	1058	+			288					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.864G>T	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625872	0.66901	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000554316	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.42	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000353	T	0.57213	0.2038	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.994;0.998;0.997	T	0.60131	-0.7323	10	0.66056	D	0.02	.	8.2751	0.31868	0.3139:0.0:0.6861:0.0	.	288;215;305;288;277;288	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4	.;.;.;.;.;ZN410_HUMAN	N	215;288;277;305;288;235;19	ENSP00000442228:K215N;ENSP00000323293:K288N;ENSP00000407130:K305N;ENSP00000451763:K288N;ENSP00000334170:K235N;ENSP00000451748:K19N	ENSP00000323293:K288N	K	+	3	2	ZNF410	73441490	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.056000	0.49923	0.866000	0.35629	-0.244000	0.11960	AAG		0.527	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		18	51	1	0	1.01871e-10	1	1.09092e-10	18	51				
FLNB	2317	broad.mit.edu	37	3	58081884	58081884	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58081884A>G	ENST00000295956.4	+	6	1088	c.923A>G	c.(922-924)gAc>gGc	p.D308G	FLNB_ENST00000429972.2_Missense_Mutation_p.D308G|FLNB_ENST00000493452.1_Missense_Mutation_p.D139G|FLNB_ENST00000358537.3_Missense_Mutation_p.D308G|FLNB_ENST00000357272.4_Missense_Mutation_p.D308G|FLNB_ENST00000348383.5_Missense_Mutation_p.D308G|FLNB_ENST00000419752.2_Missense_Mutation_p.D139G|FLNB_ENST00000490882.1_Missense_Mutation_p.D308G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	308					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D308G(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGACCCCTGACAGTGACAAG	0.547																																						ENST00000357272.4																			1	Substitution - Missense(1)	p.D308G(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(922-924)gAc>gGc		filamin B, beta							95.0	77.0	83.0					3																	58081884		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58081884A>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.923A>G	3.37:g.58081884A>G	ENSP00000295956:p.Asp308Gly					FLNB_ENST00000490882.1_Missense_Mutation_p.D308G|FLNB_ENST00000295956.4_Missense_Mutation_p.D308G|FLNB_ENST00000493452.1_Missense_Mutation_p.D139G|FLNB_ENST00000358537.3_Missense_Mutation_p.D308G|FLNB_ENST00000429972.2_Missense_Mutation_p.D308G|FLNB_ENST00000419752.2_Missense_Mutation_p.D139G|FLNB_ENST00000348383.5_Missense_Mutation_p.D308G	p.D308G			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	6	1088	+			308					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.923A>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778163	0.49786	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.77	3.33	0.38152	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.332110	0.38436	N	0.001690	T	0.51753	0.1693	N	0.24115	0.695	0.31381	N	0.679041	B;B;B;B;B;B	0.30605	0.125;0.071;0.287;0.003;0.287;0.287	B;B;B;B;B;B	0.36092	0.096;0.103;0.217;0.039;0.217;0.217	T	0.59209	-0.7497	10	0.72032	D	0.01	.	13.6896	0.62537	0.6143:0.3857:0.0:0.0	.	308;308;139;139;308;308	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	308;308;308;308;308;308;139;139	ENSP00000295956:D308G;ENSP00000420213:D308G;ENSP00000351339:D308G;ENSP00000415599:D308G;ENSP00000232447:D308G;ENSP00000349819:D308G;ENSP00000418510:D139G;ENSP00000414532:D139G	ENSP00000295956:D308G	D	+	2	0	FLNB	58056924	0.995000	0.38212	0.081000	0.20488	0.968000	0.65278	2.266000	0.43320	0.500000	0.27991	0.533000	0.62120	GAC		0.547	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		14	13	0	0	0	1	0	14	13				
ABCD1	215	broad.mit.edu	37	X	153001621	153001621	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153001621C>T	ENST00000218104.3	+	3	1536	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	379	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGTGAGCGAGCGCACAG	0.632																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1135-1137)agC>agT		ATP-binding cassette, sub-family D (ALD), member 1							112.0	103.0	106.0					X																	153001621		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001621C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1137C>T	X.37:g.153001621C>T						U52111.14_ENST00000434284.1_RNA	p.S379S	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			3	1536	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		379			ABC transmembrane type-1.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1137C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142213	0.21205	.	.	ENSG00000101986	ENST00000443684	.	.	.	4.85	-1.12	0.09808	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50499	-0.8821	4	.	.	.	-21.0106	10.8323	0.46667	0.0:0.7382:0.0:0.2618	.	.	.	.	V	47	.	.	A	+	2	0	ABCD1	152654815	0.043000	0.20138	0.945000	0.38365	0.897000	0.52465	-0.995000	0.03712	-0.710000	0.05001	-0.407000	0.06327	GCG		0.632	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		17	3	0	0	0	1	0	17	3				
FLT1	2321	broad.mit.edu	37	13	29001909	29001909	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29001909G>T	ENST00000282397.4	-	9	1507	c.1256C>A	c.(1255-1257)aCt>aAt	p.T419N	FLT1_ENST00000539099.1_Missense_Mutation_p.T419N|FLT1_ENST00000541932.1_Missense_Mutation_p.T419N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	419	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGAGTGGCAGTGAGGTTTTT	0.368																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1255-1257)aCt>aAt		fms-related tyrosine kinase 1	Sunitinib(DB01268)						148.0	133.0	138.0					13																	29001909		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001909G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1256C>A	13.37:g.29001909G>T	ENSP00000282397:p.Thr419Asn					FLT1_ENST00000539099.1_Missense_Mutation_p.T419N|FLT1_ENST00000541932.1_Missense_Mutation_p.T419N	p.T419N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1507	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	419			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1256C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604642	0.87157	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.78481	-1.18;-1.18;-1.18	5.73	5.73	0.89815	Immunoglobulin subtype (1);	0.052727	0.85682	D	0.000000	D	0.86297	0.5899	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.82444	-0.0454	10	0.26408	T	0.33	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	419;419;419;419	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	N	419	ENSP00000282397:T419N;ENSP00000437631:T419N;ENSP00000442630:T419N	ENSP00000282397:T419N	T	-	2	0	FLT1	27899909	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	8.684000	0.91242	2.711000	0.92665	0.650000	0.86243	ACT		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			22	31	1	0	1.77063e-15	1	1.9385e-15	22	31				
LRBA	987	broad.mit.edu	37	4	151826995	151826995	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151826995C>T	ENST00000357115.3	-	13	1993	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	LRBA_ENST00000510413.1_Missense_Mutation_p.A584T|LRBA_ENST00000535741.1_Missense_Mutation_p.A584T|LRBA_ENST00000507224.1_Missense_Mutation_p.A584T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	584						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTACCTTGGCTGGGGTATGA	0.343																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1750-1752)Gcc>Acc		LPS-responsive vesicle trafficking, beach and anchor containing							52.0	58.0	56.0					4																	151826995		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151826995C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1750G>A	4.37:g.151826995C>T	ENSP00000349629:p.Ala584Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A584T|LRBA_ENST00000507224.1_Missense_Mutation_p.A584T|LRBA_ENST00000510413.1_Missense_Mutation_p.A584T	p.A584T			P50851	LRBA_HUMAN			13	2223	-	all_hematologic(180;0.151)		584					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1750G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688074	0.88639	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.56941	0.85;1.0;0.85;0.43	5.68	5.68	0.88126	Armadillo-type fold (1);	0.070919	0.56097	D	0.000037	T	0.65502	0.2697	L	0.41573	1.285	0.80722	D	1	D;B;D	0.89917	0.997;0.434;1.0	D;B;D	0.87578	0.989;0.347;0.998	T	0.57556	-0.7791	10	0.22706	T	0.39	.	19.7864	0.96440	0.0:1.0:0.0:0.0	.	584;584;584	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	584	ENSP00000446299:A584T;ENSP00000421552:A584T;ENSP00000349629:A584T;ENSP00000422180:A584T	ENSP00000349629:A584T	A	-	1	0	LRBA	152046445	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	2.675000	0.91044	0.467000	0.42956	GCC		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			4	47	0	0	0	1	0	4	47				
C22orf31	25770	broad.mit.edu	37	22	29454920	29454920	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29454920G>A	ENST00000216071.4	-	3	734	c.683C>T	c.(682-684)cCt>cTt	p.P228L		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	228										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GGTCCCTGAAGGATTCCACAG	0.567																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(682-684)cCt>cTt		chromosome 22 open reading frame 31							79.0	77.0	78.0					22																	29454920		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29454920G>A	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.683C>T	22.37:g.29454920G>A	ENSP00000216071:p.Pro228Leu						p.P228L	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	734	-			228					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.683C>T	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550356	0.45383	.	.	ENSG00000100249	ENST00000216071	T	0.34859	1.34	5.65	5.65	0.86999	.	0.116270	0.39615	N	0.001320	T	0.45994	0.1370	L	0.27053	0.805	0.33220	D	0.554539	D	0.69078	0.997	D	0.65987	0.94	T	0.55685	-0.8102	10	0.72032	D	0.01	-6.5545	15.093	0.72211	0.0:0.0:1.0:0.0	.	228	O95567	CV031_HUMAN	L	228	ENSP00000216071:P228L	ENSP00000216071:P228L	P	-	2	0	C22orf31	27784920	0.768000	0.28519	0.680000	0.29994	0.030000	0.12068	3.152000	0.50677	2.941000	0.99782	0.655000	0.94253	CCT		0.567	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		22	43	0	0	0	1	0	22	43				
CYLD	1540	broad.mit.edu	37	16	50830336	50830336	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50830336A>G	ENST00000427738.3	+	18	2993	c.2788A>G	c.(2788-2790)Aga>Gga	p.R930G	CYLD_ENST00000540145.1_Missense_Mutation_p.R930G|CYLD_ENST00000398568.2_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.R930G|CYLD_ENST00000564326.1_Missense_Mutation_p.R927G|CYLD_ENST00000569418.1_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R745G			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	930	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGACTCCAGGAGAATCCAAGG	0.468			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2788-2790)Aga>Gga		cylindromatosis (turban tumor syndrome)							110.0	107.0	108.0					16																	50830336		1931	4148	6079	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50830336A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2788A>G	16.37:g.50830336A>G	ENSP00000392025:p.Arg930Gly					CYLD_ENST00000569418.1_Missense_Mutation_p.R927G|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R745G|CYLD_ENST00000427738.3_Missense_Mutation_p.R930G|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.R927G|CYLD_ENST00000311559.9_Missense_Mutation_p.R930G|CYLD_ENST00000564326.1_Missense_Mutation_p.R927G	p.R930G			Q9NQC7	CYLD_HUMAN			19	3203	+		all_cancers(37;0.0156)	930					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2788A>G	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127912	0.37533	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.93547	-3.24;-3.24;-3.24	5.9	3.59	0.41128	.	0.131795	0.64402	D	0.000002	D	0.84392	0.5462	N	0.08118	0	0.38493	D	0.948028	B	0.23249	0.082	B	0.21708	0.036	T	0.76372	-0.2983	10	0.23891	T	0.37	-28.7807	12.8476	0.57839	0.7178:0.2822:0.0:0.0	.	927	Q9NQC7-2	.	G	930;930;927;927	ENSP00000445447:R930G;ENSP00000308928:R930G;ENSP00000381574:R927G	ENSP00000308928:R930G	R	+	1	2	CYLD	49387837	1.000000	0.71417	0.643000	0.29450	0.866000	0.49608	4.031000	0.57267	0.452000	0.26830	0.533000	0.62120	AGA		0.468	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			15	34	0	0	0	1	0	15	34				
ATP6V0A1	535	broad.mit.edu	37	17	40652751	40652751	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40652751A>G	ENST00000343619.4	+	16	1829	c.1706A>G	c.(1705-1707)tAc>tGc	p.Y569C	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Y576C|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Y215C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Y569C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	569					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTGAATATCTACTTTGGATTT	0.383																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1705-1707)tAc>tGc		ATPase, H+ transporting, lysosomal V0 subunit a1							130.0	125.0	127.0					17																	40652751		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40652751A>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1706A>G	17.37:g.40652751A>G	ENSP00000342951:p.Tyr569Cys					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Y215C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Y569C|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Y526C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Y576C|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Y526C	p.Y569C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	16	1829	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	569					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1706A>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666241	0.67814	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.3	5.3	0.74995	.	0.051009	0.85682	D	0.000000	D	0.91129	0.7207	L	0.48986	1.54	0.58432	D	0.999996	D;B;B;D;P	0.71674	0.986;0.002;0.004;0.998;0.937	P;B;B;D;P	0.71870	0.895;0.021;0.033;0.975;0.753	D	0.91890	0.5523	10	0.66056	D	0.02	-21.038	15.4202	0.75006	1.0:0.0:0.0:0.0	.	526;526;576;569;569	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	C	569;569;569;576;526;215	ENSP00000342951:Y569C;ENSP00000444676:Y569C;ENSP00000377415:Y569C;ENSP00000264649:Y576C;ENSP00000443991:Y526C;ENSP00000446377:Y215C	ENSP00000264649:Y576C	Y	+	2	0	ATP6V0A1	37906277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	2.231000	0.72958	0.459000	0.35465	TAC		0.383	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		37	49	0	0	0	1	0	37	49				
MCF2L	23263	broad.mit.edu	37	13	113748834	113748834	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113748834G>A	ENST00000375608.3	+	28	3108	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	MCF2L_ENST00000421756.1_Missense_Mutation_p.S991N|MCF2L_ENST00000434480.2_Missense_Mutation_p.S993N|MCF2L_ENST00000535094.2_Missense_Mutation_p.S987N|MCF2L_ENST00000442652.2_Missense_Mutation_p.S1017N|MCF2L_ENST00000375601.3_Missense_Mutation_p.S991N|MCF2L_ENST00000423482.2_Missense_Mutation_p.S985N|MCF2L_ENST00000375604.2_Missense_Mutation_p.S1044N|MCF2L_ENST00000397030.1_Missense_Mutation_p.S1020N			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1017					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTAGGTTGGAGCAAAACGTCC	0.617																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3058-3060)aGc>aAc		MCF.2 cell line derived transforming sequence-like							36.0	39.0	38.0					13																	113748834		1562	3579	5141	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113748834G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3050G>A	13.37:g.113748834G>A	ENSP00000364758:p.Ser1017Asn					MCF2L_ENST00000442652.2_Missense_Mutation_p.S1017N|MCF2L_ENST00000421756.1_Missense_Mutation_p.S991N|MCF2L_ENST00000375608.3_Missense_Mutation_p.S1017N|MCF2L_ENST00000535094.2_Missense_Mutation_p.S987N|MCF2L_ENST00000434480.2_Missense_Mutation_p.S993N|MCF2L_ENST00000375604.2_Missense_Mutation_p.S1044N|MCF2L_ENST00000375601.3_Missense_Mutation_p.S991N|MCF2L_ENST00000423482.2_Missense_Mutation_p.S985N	p.S1020N			O15068	MCF2L_HUMAN			27	3096	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1017					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.3059G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.485|7.485	0.649422|0.649422	0.14516|0.14516	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.35973	.|1.33;1.33;1.28;1.33;1.3;1.33;1.29;1.34;1.3	4.66|4.66	2.86|2.86	0.33363|0.33363	.|.	.|0.229422	.|0.43110	.|N	.|0.000605	T|T	0.25158|0.25158	0.0611|0.0611	L|L	0.39898|0.39898	1.24|1.24	0.22562|0.22562	N|N	0.998981|0.998981	.|B;B;B;B	.|0.11235	.|0.004;0.002;0.003;0.004	.|B;B;B;B	.|0.17098	.|0.012;0.012;0.017;0.008	T|T	0.13124|0.13124	-1.0521|-1.0521	5|10	.|0.36615	.|T	.|0.2	.|.	5.1066|5.1066	0.14787|0.14787	0.2221:0.2829:0.495:0.0|0.2221:0.2829:0.495:0.0	.|.	.|985;987;1044;1017	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	T|N	270;158;59|1017;1017;1044;1020;987;991;991;993;985;828	.|ENSP00000364758:S1017N;ENSP00000401422:S1017N;ENSP00000364754:S1044N;ENSP00000380225:S1020N;ENSP00000440374:S987N;ENSP00000397285:S991N;ENSP00000364751:S991N;ENSP00000407722:S993N;ENSP00000405639:S985N	.|ENSP00000364751:S991N	A|S	+|+	1|2	0|0	MCF2L|MCF2L	112796835|112796835	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.068000|0.068000	0.16541|0.16541	0.826000|0.826000	0.27407|0.27407	0.959000|0.959000	0.37980|0.37980	-0.150000|-0.150000	0.13652|0.13652	GCA|AGC		0.617	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			8	10	0	0	0	1	0	8	10				
CCDC80	151887	broad.mit.edu	37	3	112357079	112357079	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112357079G>A	ENST00000206423.3	-	2	2627	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Silent_p.N558N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	558	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						acttgtctgcgttctcattct	0.373																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1672-1674)aaC>aaT		coiled-coil domain containing 80							136.0	114.0	122.0					3																	112357079		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112357079G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1674C>T	3.37:g.112357079G>A						CCDC80_ENST00000439685.2_Silent_p.N558N	p.N558N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2627	-			558			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.1674C>T	CCDS2968.1																																																																																				0.373	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		9	10	0	0	0	1	0	9	10				
DRC7	84229	broad.mit.edu	37	16	57741447	57741447	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57741447C>T	ENST00000360716.3	+	8	1155	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R312C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R247C			Q8IY82	CC135_HUMAN		312					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATCGGGGAAGCGCGAGGTGCC	0.587																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(934-936)Cgc>Tgc		coiled-coil domain containing 135							75.0	70.0	71.0					16																	57741447		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57741447C>T																												ENST00000360716.3:c.934C>T	16.37:g.57741447C>T	ENSP00000353942:p.Arg312Cys					CCDC135_ENST00000336825.8_Missense_Mutation_p.R247C|CCDC135_ENST00000394337.4_Missense_Mutation_p.R312C	p.R312C			Q8IY82	CC135_HUMAN			8	1155	+			312					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.934C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.996779	0.74818	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.80214	-1.35;-1.35;-1.35	5.03	5.03	0.67393	.	0.121317	0.53938	D	0.000041	D	0.90202	0.6937	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91656	0.5338	10	0.87932	D	0	-17.572	13.0344	0.58862	0.1719:0.8281:0.0:0.0	.	247;312	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	312;247;312	ENSP00000377869:R312C;ENSP00000338938:R247C;ENSP00000353942:R312C	ENSP00000338938:R247C	R	+	1	0	CCDC135	56298948	1.000000	0.71417	0.995000	0.50966	0.854000	0.48673	2.886000	0.48578	2.332000	0.79248	0.637000	0.83480	CGC		0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			9	14	0	0	0	1	0	9	14				
SLC15A4	121260	broad.mit.edu	37	12	129293375	129293375	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:129293375C>T	ENST00000266771.5	-	5	1255	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	SLC15A4_ENST00000539703.1_5'Flank|SLC15A4_ENST00000544112.1_Missense_Mutation_p.A69T	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	406					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		ATGCCCACGGCGATCCTCTTC	0.552																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(1216-1218)Gcc>Acc		solute carrier family 15 (oligopeptide transporter), member 4							115.0	93.0	100.0					12																	129293375		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129293375C>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1216G>A	12.37:g.129293375C>T	ENSP00000266771:p.Ala406Thr					SLC15A4_ENST00000544112.1_Missense_Mutation_p.A69T	p.A406T	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	5	1255	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		406					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1216G>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736589	0.96865	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.59638	0.25;0.25;3.61	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.046747	0.85682	D	0.000000	T	0.60025	0.2237	L	0.31207	0.915	0.80722	D	1	P	0.52061	0.95	P	0.51453	0.67	T	0.63363	-0.6654	10	0.72032	D	0.01	.	19.7421	0.96237	0.0:1.0:0.0:0.0	.	406	Q8N697	S15A4_HUMAN	T	406;69;106	ENSP00000266771:A406T;ENSP00000439946:A69T;ENSP00000365930:A106T	ENSP00000266771:A406T	A	-	1	0	SLC15A4	127859328	1.000000	0.71417	0.939000	0.37840	0.945000	0.59286	6.993000	0.76245	2.749000	0.94314	0.650000	0.86243	GCC		0.552	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		16	23	0	0	0	1	0	16	23				
RSPH14	27156	broad.mit.edu	37	22	23476327	23476327	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23476327C>T	ENST00000216036.4	-	4	503	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	Metazoa_SRP_ENST00000606537.1_RNA|AC000029.1_ENST00000408142.1_RNA	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		103										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCTAGAAAGGCGTATCTAGGG	0.557																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(307-309)Gcc>Acc		rhabdoid tumor deletion region gene 1							149.0	109.0	123.0					22																	23476327		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23476327C>T																												ENST00000216036.4:c.307G>A	22.37:g.23476327C>T	ENSP00000216036:p.Ala103Thr						p.A103T	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	4	503	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		103						Missense_Mutation	SNP	ENST00000216036.4	37	c.307G>A	CCDS13803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.93|11.93	1.785258|1.785258	0.31593|0.31593	.|.	.|.	ENSG00000100218|ENSG00000100218	ENST00000216036|ENST00000439064	T|.	0.50548|.	0.74|.	5.07|5.07	2.97|2.97	0.34412|0.34412	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.885719|.	0.09608|.	N|.	0.779295|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D;D|.	0.54964|.	0.96;0.969|.	P;P|.	0.47827|.	0.452;0.558|.	T|T	0.49872|0.49872	-0.8893|-0.8893	10|5	0.13470|.	T|.	0.59|.	-23.4251|-23.4251	9.7353|9.7353	0.40384|0.40384	0.0:0.8263:0.0:0.1737|0.0:0.8263:0.0:0.1737	.|.	124;103|.	B7Z5X4;Q9UHP6|.	.;RTDR1_HUMAN|.	T|H	103|27	ENSP00000216036:A103T|.	ENSP00000216036:A103T|.	A|R	-|-	1|2	0|0	RTDR1|RTDR1	21806327|21806327	0.851000|0.851000	0.29673|0.29673	0.329000|0.329000	0.25429|0.25429	0.015000|0.015000	0.08874|0.08874	1.427000|1.427000	0.34881|0.34881	0.795000|0.795000	0.33922|0.33922	0.643000|0.643000	0.83706|0.83706	GCC|CGC		0.557	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			7	12	0	0	0	1	0	7	12				
GRM8	2918	broad.mit.edu	37	7	126882824	126882824	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:126882824G>A	ENST00000339582.2	-	2	1243	c.435C>T	c.(433-435)gaC>gaT	p.D145D	GRM8_ENST00000405249.1_Silent_p.D145D|GRM8_ENST00000358373.3_Silent_p.D145D|GRM8_ENST00000444921.2_Silent_p.D145D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	145					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAGAAATCTTGTCGGGCTTGG	0.443										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(433-435)gaC>gaT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						163.0	134.0	144.0					7																	126882824		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882824G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.435C>T	7.37:g.126882824G>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.D145D|GRM8_ENST00000444921.2_Silent_p.D145D|GRM8_ENST00000405249.1_Silent_p.D145D	p.D145D			O00222	GRM8_HUMAN			2	1243	-		Prostate(267;0.186)	145					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.435C>T	CCDS5794.1																																																																																				0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			27	39	0	0	0	1	0	27	39				
USH1C	10083	broad.mit.edu	37	11	17544427	17544427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17544427C>T	ENST00000318024.4	-	12	1031	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	USH1C_ENST00000005226.7_Missense_Mutation_p.R308Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R277Q|USH1C_ENST00000527020.1_Missense_Mutation_p.R289Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	308					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.R308Q(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						CTCACGCTGCCGCGCCTCTGC	0.657																																						ENST00000005226.7																			1	Substitution - Missense(1)	p.R308Q(1)	lung(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						c.(922-924)cGg>cAg		Usher syndrome 1C (autosomal recessive, severe)							11.0	13.0	12.0					11																	17544427		2050	4059	6109	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.chr11:17544427C>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.923G>A	11.37:g.17544427C>T	ENSP00000317018:p.Arg308Gln					USH1C_ENST00000527020.1_Missense_Mutation_p.R289Q|USH1C_ENST00000527720.1_Missense_Mutation_p.R277Q|USH1C_ENST00000318024.4_Missense_Mutation_p.R308Q	p.R308Q	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			12	922	-			308					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.923G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426011	0.62733	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.38077	1.79;1.78;1.98;1.16	5.22	4.31	0.51392	PDZ/DHR/GLGF (1);	0.386039	0.27388	N	0.019592	T	0.23846	0.0577	N	0.24115	0.695	0.26782	N	0.969579	P;P;D	0.60160	0.89;0.824;0.987	B;B;B	0.42738	0.376;0.148;0.396	T	0.09015	-1.0694	10	0.51188	T	0.08	.	7.7362	0.28815	0.0:0.8115:0.0:0.1885	.	289;308;308	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	308;277;289;308	ENSP00000317018:R308Q;ENSP00000432944:R277Q;ENSP00000436934:R289Q;ENSP00000005226:R308Q	ENSP00000005226:R308Q	R	-	2	0	USH1C	17501003	0.997000	0.39634	0.948000	0.38648	0.278000	0.26855	2.665000	0.46791	1.209000	0.43321	0.455000	0.32223	CGG		0.657	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		5	8	0	0	0	1	0	5	8				
EXPH5	23086	broad.mit.edu	37	11	108382110	108382110	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108382110G>T	ENST00000265843.4	-	6	4234	c.4124C>A	c.(4123-4125)cCt>cAt	p.P1375H	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1187H|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1299H|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1368H	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1375					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATCACCTAGAGGTGTTTTAGC	0.378																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4123-4125)cCt>cAt		exophilin 5							54.0	54.0	54.0					11																	108382110		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382110G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4124C>A	11.37:g.108382110G>T	ENSP00000265843:p.Pro1375His					EXPH5_ENST00000525344.1_Missense_Mutation_p.P1368H|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1299H|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1187H	p.P1375H	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4234	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1375					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4124C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440131	0.63067	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04970	4.21;4.14;3.99;4.21;4.05;3.52	5.81	-1.15	0.09709	.	1.458700	0.03687	N	0.246501	T	0.17577	0.0422	M	0.63428	1.95	0.09310	N	1	D	0.63046	0.992	P	0.56216	0.794	T	0.40079	-0.9582	10	0.62326	D	0.03	0.4506	10.6171	0.45456	0.4849:0.0:0.5151:0.0	.	1375	Q8NEV8	EXPH5_HUMAN	H	1375;1299;1187;1368;1299;1187	ENSP00000265843:P1375H;ENSP00000391966:P1299H;ENSP00000411390:P1187H;ENSP00000432546:P1368H;ENSP00000432683:P1299H;ENSP00000446434:P1187H	ENSP00000265843:P1375H	P	-	2	0	EXPH5	107887320	0.137000	0.22531	0.000000	0.03702	0.143000	0.21401	1.703000	0.37846	-0.082000	0.12640	0.591000	0.81541	CCT		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		23	34	1	0	1.28384e-07	1	1.34682e-07	23	34				
TRAPPC12	51112	broad.mit.edu	37	2	3447573	3447573	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3447573C>T	ENST00000324266.5	+	6	1636	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481C|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	481					vesicle-mediated transport (GO:0016192)												CTTCTCGATGCGCATCTTGCA	0.547																																						ENST00000324266.5																			0											c.(1441-1443)Cgc>Tgc		trafficking protein particle complex 12							114.0	98.0	104.0					2																	3447573		2202	4300	6502	SO:0001583	missense	51112						binding	g.chr2:3447573C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1441C>T	2.37:g.3447573C>T	ENSP00000324318:p.Arg481Cys					TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481C	p.R481C	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			6	1636	+			481					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1441C>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061017|4.061017	0.76074|0.76074	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000382110;ENST00000304601;ENST00000324266	.|T;T	.|0.61980	.|0.06;0.06	5.36|5.36	4.4|4.4	0.53042|0.53042	.|.	.|0.066546	.|0.64402	.|D	.|0.000012	T|T	0.80732|0.80732	0.4679|0.4679	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.952	.|D;B	.|0.83275	.|0.996;0.372	D|D	0.83794|0.83794	0.0232|0.0232	5|10	.|0.72032	.|D	.|0.01	.|.	12.2188|12.2188	0.54423|0.54423	0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0	.|.	.|464;481	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	V|C	26|481;464;481	.|ENSP00000371544:R481C;ENSP00000324318:R481C	.|ENSP00000303612:R464C	A|R	+|+	2|1	0|0	TTC15|TTC15	3426580|3426580	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.965000|0.965000	0.64279|0.64279	1.482000|1.482000	0.35486|0.35486	2.504000|2.504000	0.84457|0.84457	0.585000|0.585000	0.79938|0.79938	GCG|CGC		0.547	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		4	14	0	0	0	1	0	4	14				
FASN	2194	broad.mit.edu	37	17	80046084	80046084	+	Missense_Mutation	SNP	G	G	A	rs201967800		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80046084G>A	ENST00000306749.2	-	17	2911	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	898					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGGGCCAGCGTCTTCCACAC	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2692-2694)aCg>aTg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						43.0	55.0	51.0					17																	80046084		2197	4298	6495	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046084G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2693C>T	17.37:g.80046084G>A	ENSP00000304592:p.Thr898Met						p.T898M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2911	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		898					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2693C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327047	0.41197	.	.	ENSG00000169710	ENST00000306749	D	0.82344	-1.6	4.08	3.11	0.35812	.	0.064275	0.64402	N	0.000009	D	0.84687	0.5527	L	0.49571	1.57	0.58432	D	0.999998	D	0.76494	0.999	P	0.57502	0.822	D	0.83753	0.0210	10	0.45353	T	0.12	-7.8288	11.8927	0.52638	0.0869:0.0:0.9131:0.0	.	898	P49327	FAS_HUMAN	M	898	ENSP00000304592:T898M	ENSP00000304592:T898M	T	-	2	0	FASN	77639373	1.000000	0.71417	0.226000	0.23910	0.128000	0.20619	4.655000	0.61476	0.935000	0.37341	0.462000	0.41574	ACG		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		17	19	0	0	0	1	0	17	19				
TASP1	55617	broad.mit.edu	37	20	13604122	13604122	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:13604122C>T	ENST00000337743.4	-	4	373	c.253G>A	c.(253-255)Gca>Aca	p.A85T	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.A85T|TASP1_ENST00000544472.1_Missense_Mutation_p.A85T	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	85					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GCAGTGACTGCGTCAGTTGCA	0.363																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(253-255)Gca>Aca		taspase, threonine aspartase, 1							17.0	20.0	19.0					20																	13604122		2195	4287	6482	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13604122C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.253G>A	20.37:g.13604122C>T	ENSP00000338624:p.Ala85Thr					TASP1_ENST00000544472.1_Missense_Mutation_p.A85T|TASP1_ENST00000539805.1_Missense_Mutation_p.A85T|TASP1_ENST00000480436.1_5'UTR	p.A85T	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			4	373	-			85					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.253G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948984	0.92660	.	.	ENSG00000089123	ENST00000539805;ENST00000337743;ENST00000544472	D	0.89196	-2.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.74023	0.982;0.907	D	0.94995	0.8138	10	0.66056	D	0.02	-13.8008	19.7441	0.96245	0.0:1.0:0.0:0.0	.	85;85	B7Z963;Q9H6P5	.;TASP1_HUMAN	T	85	ENSP00000338624:A85T	ENSP00000338624:A85T	A	-	1	0	TASP1	13552122	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.745000	0.68672	2.669000	0.90835	0.585000	0.79938	GCA		0.363	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		14	17	0	0	0	1	0	14	17				
PNPLA6	10908	broad.mit.edu	37	19	7606907	7606907	+	Silent	SNP	G	G	A	rs376895691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7606907G>A	ENST00000221249.6	+	13	1520	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	PNPLA6_ENST00000414982.3_Silent_p.S411S|PNPLA6_ENST00000545201.2_Silent_p.S363S|PNPLA6_ENST00000600737.1_Silent_p.S402S|PNPLA6_ENST00000450331.3_Silent_p.S363S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	402					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AAACCCCCTCGGCCCCTCTGC	0.627																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1087-1089)tcG>tcA		patatin-like phospholipase domain containing 6		G	,,,,	0,4406		0,0,2203	53.0	53.0	53.0		1233,1089,1089,1206,1089	-11.3	0.0	19		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PNPLA6	NM_001166111.1,NM_001166112.1,NM_001166113.1,NM_001166114.1,NM_006702.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	411/1376,363/1301,363/1328,402/1366,363/1328	7606907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606907G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1089G>A	19.37:g.7606907G>A						PNPLA6_ENST00000414982.3_Silent_p.S411S|PNPLA6_ENST00000600737.1_Silent_p.S402S|PNPLA6_ENST00000545201.2_Silent_p.S363S|PNPLA6_ENST00000450331.3_Silent_p.S363S	p.S363S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1520	+			402					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1089G>A	CCDS32891.1																																																																																				0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		16	24	0	0	0	1	0	16	24				
DYNC1H1	1778	broad.mit.edu	37	14	102494416	102494416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102494416C>T	ENST00000360184.4	+	48	9570	c.9406C>T	c.(9406-9408)Cca>Tca	p.P3136S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3136	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTGCCGCAGCCACCATCCCA	0.448																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9406-9408)Cca>Tca		dynein, cytoplasmic 1, heavy chain 1							149.0	145.0	146.0					14																	102494416		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102494416C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9406C>T	14.37:g.102494416C>T	ENSP00000348965:p.Pro3136Ser						p.P3136S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			48	9570	+			3136			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9406C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710613	0.48517	.	.	ENSG00000197102	ENST00000360184	T	0.35605	1.3	5.85	5.85	0.93711	Dynein heavy chain, P-loop containing D4 domain (1);	0.108055	0.64402	D	0.000004	T	0.43500	0.1250	L	0.45051	1.395	0.80722	D	1	P	0.37141	0.584	B	0.43990	0.438	T	0.16100	-1.0414	10	0.46703	T	0.11	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	3136	Q14204	DYHC1_HUMAN	S	3136	ENSP00000348965:P3136S	ENSP00000348965:P3136S	P	+	1	0	DYNC1H1	101564169	1.000000	0.71417	0.995000	0.50966	0.140000	0.21249	4.736000	0.62059	2.773000	0.95371	0.655000	0.94253	CCA		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	41	0	0	0	1	0	35	41				
SERPINC1	462	broad.mit.edu	37	1	173876636	173876636	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173876636G>A	ENST00000367698.3	-	6	1288	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	390					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGTCATCTCGGCCTTCTGCAA	0.463																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1168-1170)ggC>ggT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						225.0	208.0	214.0					1																	173876636		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173876636G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1170C>T	1.37:g.173876636G>A							p.G390G	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			6	1288	-			390					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1170C>T	CCDS1313.1																																																																																				0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		12	137	0	0	0	1	0	12	137				
SERPINF1	5176	broad.mit.edu	37	17	1680697	1680697	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1680697C>T	ENST00000254722.4	+	8	1377	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	405					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GACACAGGGGCCCTTCTCTTC	0.547																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(1213-1215)gCc>gTc		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							94.0	99.0	97.0					17																	1680697		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1680697C>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.1214C>T	17.37:g.1680697C>T	ENSP00000254722:p.Ala405Val						p.A405V	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			8	1377	+			405					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.1214C>T	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378902	0.82682	.	.	ENSG00000132386	ENST00000254722	D	0.84298	-1.83	6.06	6.06	0.98353	Serpin domain (3);	0.149536	0.64402	D	0.000013	D	0.89518	0.6738	L	0.41710	1.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.64776	0.929	D	0.88918	0.3364	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	405	P36955	PEDF_HUMAN	V	405	ENSP00000254722:A405V	ENSP00000254722:A405V	A	+	2	0	SERPINF1	1627447	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.987000	0.70571	2.882000	0.98803	0.655000	0.94253	GCC		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		41	76	0	0	0	1	0	41	76				
NCAN	1463	broad.mit.edu	37	19	19329842	19329842	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19329842G>A	ENST00000252575.6	+	3	291	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	64	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTACCCTGCAGCCACGGCCAA	0.662																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(190-192)caG>caA		neurocan							36.0	36.0	36.0					19																	19329842		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19329842G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.192G>A	19.37:g.19329842G>A							p.Q64Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	235	+			64			Ig-like V-type.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.192G>A	CCDS12397.1																																																																																				0.662	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		11	12	0	0	0	1	0	11	12				
KCNF1	3754	broad.mit.edu	37	2	11052975	11052975	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11052975C>T	ENST00000295082.1	+	1	913	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	141					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGAGGAGATCGCGCGCCGCG	0.637																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(421-423)atC>atT		potassium voltage-gated channel, subfamily F, member 1							42.0	48.0	46.0					2																	11052975		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052975C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.423C>T	2.37:g.11052975C>T							p.I141I	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	913	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		141					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.423C>T	CCDS1676.1																																																																																				0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		14	15	0	0	0	1	0	14	15				
TRIO	7204	broad.mit.edu	37	5	14286996	14286996	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14286996C>T	ENST00000344204.4	+	4	388	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	TRIO_ENST00000537187.1_Missense_Mutation_p.R122C|TRIO_ENST00000509967.2_Missense_Mutation_p.R73C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	122	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)			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)					GGTCTGCAAGCGTGGCTTCAC	0.572																																						ENST00000344204.4																			0				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						c.(364-366)Cgt>Tgt		trio Rho guanine nucleotide exchange factor							104.0	90.0	95.0					5																	14286996		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.chr5:14286996C>T	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.364C>T	5.37:g.14286996C>T	ENSP00000339299:p.Arg122Cys					TRIO_ENST00000537187.1_Missense_Mutation_p.R122C|TRIO_ENST00000509967.2_Missense_Mutation_p.R73C	p.R122C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	388	+	Lung NSC(4;0.000742)		122			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.364C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513937	0.64522	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63913	-0.07;-0.07;-0.07	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.068078	0.64402	D	0.000010	T	0.74053	0.3666	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.67145	0.996;0.994	D;P	0.63033	0.91;0.765	T	0.74876	-0.3515	10	0.54805	T	0.06	.	15.8591	0.79009	0.136:0.864:0.0:0.0	.	73;122	F5H228;O75962	.;TRIO_HUMAN	C	122;122;73	ENSP00000339299:R122C;ENSP00000446348:R122C;ENSP00000445592:R73C	ENSP00000339299:R122C	R	+	1	0	TRIO	14339996	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.920000	0.56446	2.616000	0.88540	0.585000	0.79938	CGT		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		16	35	0	0	0	1	0	16	35				
MYH6	4624	broad.mit.edu	37	14	23853760	23853760	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23853760G>A	ENST00000356287.3	-	35	5485	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	MYH6_ENST00000405093.3_Missense_Mutation_p.A1819V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1819					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCACCCGCGCTTCCAGCTT	0.632																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5455-5457)gCg>gTg		myosin, heavy chain 6, cardiac muscle, alpha							79.0	79.0	79.0					14																	23853760		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853760G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5456C>T	14.37:g.23853760G>A	ENSP00000348634:p.Ala1819Val					MYH6_ENST00000356287.3_Missense_Mutation_p.A1819V	p.A1819V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5526	-	all_cancers(95;2.54e-05)		1819					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5456C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.484119	0.44147	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78126	-1.15;-1.15	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	T	0.80042	0.4551	M	0.83692	2.655	0.46396	D	0.999023	B	0.19200	0.034	B	0.24848	0.056	T	0.79050	-0.1962	9	0.52906	T	0.07	.	13.9727	0.64252	0.0:0.1517:0.8482:0.0	.	1819	P13533	MYH6_HUMAN	V	1819	ENSP00000386041:A1819V;ENSP00000348634:A1819V	ENSP00000348634:A1819V	A	-	2	0	MYH6	22923600	1.000000	0.71417	0.979000	0.43373	0.368000	0.29767	6.554000	0.73923	2.395000	0.81488	0.561000	0.74099	GCG		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			19	71	0	0	0	1	0	19	71				
MRGPRE	116534	broad.mit.edu	37	11	3249775	3249775	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3249775C>T	ENST00000389832.5	-	2	561	c.255G>A	c.(253-255)ctG>ctA	p.L85L	MRGPRE_ENST00000436689.2_Silent_p.L84L|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCGGCCTTGCAGCAAGTCGG	0.632																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(253-255)ctG>ctA		MAS-related GPR, member E							53.0	65.0	61.0					11																	3249775		2149	4258	6407	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249775C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.255G>A	11.37:g.3249775C>T						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L84L	p.L85L			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	561	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	84					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.255G>A																																																																																					0.632	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		20	24	0	0	0	1	0	20	24				
FHOD3	80206	broad.mit.edu	37	18	34320769	34320769	+	Missense_Mutation	SNP	G	G	A	rs202146466		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34320769G>A	ENST00000359247.4	+	17	3151	c.3151G>A	c.(3151-3153)Gca>Aca	p.A1051T	FHOD3_ENST00000445677.1_Missense_Mutation_p.A1030T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A264T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A47T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1243T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1068T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1051	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCACCTCTGGGCATTCAAAAT	0.512																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3202-3204)Gca>Aca		formin homology 2 domain containing 3		G	THR/ALA	0,4406		0,0,2203	76.0	70.0	72.0		3202	6.0	1.0	18		72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FHOD3	NM_025135.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1068/1440	34320769	2,13004	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34320769G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3151G>A	18.37:g.34320769G>A	ENSP00000352186:p.Ala1051Thr					FHOD3_ENST00000591635.1_Missense_Mutation_p.A264T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A47T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1243T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1051T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1030T	p.A1068T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			18	3324	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1051			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3202G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.535432	0.96460	0.0	2.33E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.63417	-0.04;-0.04;-0.04	5.98	5.98	0.97165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	M	0.85373	2.75	0.80722	D	1	P;D;D;D	0.89917	0.94;1.0;1.0;0.989	P;D;D;D	0.91635	0.868;0.998;0.999;0.92	T	0.82841	-0.0258	10	0.54805	T	0.06	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	272;1030;1051;1068	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	T	1068;1051;1030	ENSP00000257209:A1068T;ENSP00000352186:A1051T;ENSP00000411430:A1030T	ENSP00000257209:A1068T	A	+	1	0	FHOD3	32574767	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.838000	0.97847	0.563000	0.77884	GCA		0.512	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		4	45	0	0	0	1	0	4	45				
CENPF	1063	broad.mit.edu	37	1	214826195	214826195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214826195C>T	ENST00000366955.3	+	16	8353	c.8185C>T	c.(8185-8187)Cga>Tga	p.R2729*	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2825	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCAGACATACCGAGAGAAATT	0.338																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8185-8187)Cga>Tga		centromere protein F, 350/400kDa							70.0	71.0	71.0					1																	214826195		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826195C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8185C>T	1.37:g.214826195C>T	ENSP00000355922:p.Arg2729*					CENPF_ENST00000467765.1_3'UTR	p.R2729*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8353	+			2825			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.8185C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	47	13.754184	0.99761	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.366	0.66805	0.0:1.0:0.0:0.0	.	.	.	.	X	2729;128	.	ENSP00000355922:R2729X	R	+	1	2	CENPF	212892818	0.400000	0.25295	0.002000	0.10522	0.043000	0.13939	3.661000	0.54503	1.601000	0.50113	0.511000	0.50034	CGA		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		10	64	0	0	0	1	0	10	64				
ZC3H18	124245	broad.mit.edu	37	16	88666280	88666280	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88666280G>A	ENST00000301011.5	+	6	1212	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E362K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	338						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGGCGAAGACGAACGGGAATT	0.423																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1012-1014)Gaa>Aaa		zinc finger CCCH-type containing 18							139.0	158.0	151.0					16																	88666280		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88666280G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1012G>A	16.37:g.88666280G>A	ENSP00000301011:p.Glu338Lys					ZC3H18_ENST00000452588.2_Missense_Mutation_p.E362K	p.E338K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	6	1212	+			338					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1012G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669485	0.88348	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.52295	0.68;0.67	5.16	5.16	0.70880	.	0.152775	0.64402	D	0.000018	T	0.44850	0.1313	L	0.55481	1.735	0.58432	D	0.999996	P;P;P	0.47191	0.891;0.693;0.891	B;B;B	0.38156	0.266;0.178;0.266	T	0.54309	-0.8313	10	0.72032	D	0.01	-17.2196	16.815	0.85732	0.0:0.0:1.0:0.0	.	362;362;338	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	K	338;362;362;221	ENSP00000301011:E338K;ENSP00000416951:E362K	ENSP00000289509:E362K	E	+	1	0	ZC3H18	87193781	1.000000	0.71417	0.950000	0.38849	0.960000	0.62799	9.201000	0.95017	2.390000	0.81377	0.561000	0.74099	GAA		0.423	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		38	77	0	0	0	1	0	38	77				
ADAM29	11086	broad.mit.edu	37	4	175897510	175897510	+	Silent	SNP	G	G	A	rs531043841		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:175897510G>A	ENST00000359240.3	+	5	1504	c.834G>A	c.(832-834)acG>acA	p.T278T	ADAM29_ENST00000514159.1_Silent_p.T278T|ADAM29_ENST00000445694.1_Silent_p.T278T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.T278T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	278	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAACATTACGCCCCGGATGC	0.428													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20652	0.0		0.0	False		,,,				2504	0.0				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(832-834)acG>acA		ADAM metallopeptidase domain 29							143.0	137.0	139.0					4																	175897510		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897510G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.834G>A	4.37:g.175897510G>A						ADAM29_ENST00000404450.4_Silent_p.T278T|ADAM29_ENST00000514159.1_Silent_p.T278T|ADAM29_ENST00000445694.1_Silent_p.T278T	p.T278T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1504	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	278			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.834G>A	CCDS3823.1																																																																																				0.428	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				16	94	0	0	0	1	0	16	94				
PCF11	51585	broad.mit.edu	37	11	82880022	82880022	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82880022G>A	ENST00000298281.4	+	8	3097	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	882	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GAGGGACATCGTGGTCAACCT	0.552																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2644-2646)cGt>cAt		PCF11 cleavage and polyadenylation factor subunit							65.0	65.0	65.0					11																	82880022		1949	4143	6092	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880022G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2645G>A	11.37:g.82880022G>A	ENSP00000298281:p.Arg882His						p.R882H	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	3097	+			882			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2645G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415218	0.42817	.	.	ENSG00000165494	ENST00000298281	T	0.22743	1.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000019	T	0.28466	0.0704	L	0.58101	1.795	0.32875	D	0.509775	D	0.67145	0.996	P	0.49502	0.613	T	0.40175	-0.9577	9	.	.	.	-11.3461	10.5381	0.45016	0.0708:0.134:0.7952:0.0	.	882	O94913	PCF11_HUMAN	H	882	ENSP00000298281:R882H	.	R	+	2	0	PCF11	82557670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.173000	0.42472	2.941000	0.99782	0.655000	0.94253	CGT		0.552	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	30	0	0	0	1	0	24	30				
MYO18B	84700	broad.mit.edu	37	22	26291196	26291196	+	Silent	SNP	C	C	T	rs368416287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26291196C>T	ENST00000407587.2	+	28	4789	c.4620C>T	c.(4618-4620)tgC>tgT	p.C1540C	CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000536101.1_Silent_p.C1539C|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|MYO18B_ENST00000335473.7_Silent_p.C1539C|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1539	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGCAATGCGAGGAGAGGC	0.557																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4615-4617)tgC>tgT		myosin XVIIIB		C		1,4263		0,1,2131	34.0	40.0	38.0		4617	-10.5	0.0	22		38	1,8499		0,1,4249	no	coding-synonymous	MYO18B	NM_032608.5		0,2,6380	TT,TC,CC		0.0118,0.0235,0.0157		1539/2568	26291196	2,12762	2132	4250	6382	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26291196C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4620C>T	22.37:g.26291196C>T						MYO18B_ENST00000407587.2_Silent_p.C1540C|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000536101.1_Silent_p.C1539C|CTA-125H2.2_ENST00000597614.1_RNA	p.C1539C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			28	4867	+			1539			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.4617C>T																																																																																					0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	5	0	0	0	1	0	6	5				
KPRP	448834	broad.mit.edu	37	1	152733421	152733421	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152733421G>T	ENST00000606109.1	+	1	1385	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	KPRP_ENST00000368773.1_Missense_Mutation_p.G453W			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	453	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCGCCCAGGGCAGTGTGA	0.617																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1357-1359)Ggg>Tgg		keratinocyte proline-rich protein							146.0	146.0	146.0					1																	152733421		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733421G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1357G>T	1.37:g.152733421G>T	ENSP00000475216:p.Gly453Trp					KPRP_ENST00000606109.1_Missense_Mutation_p.G453W	p.G453W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1415	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		453			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1357G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761916	0.31228	.	.	ENSG00000203786	ENST00000368773	T	0.11930	2.73	4.61	0.393	0.16294	.	2.325760	0.01798	N	0.032704	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	P	0.34757	0.467	B	0.35688	0.208	T	0.35847	-0.9772	10	0.66056	D	0.02	10.7148	6.161	0.20364	0.1715:0.2782:0.5502:0.0	.	453	Q5T749	KPRP_HUMAN	W	453	ENSP00000357762:G453W	ENSP00000357762:G453W	G	+	1	0	KPRP	151000045	0.007000	0.16637	0.000000	0.03702	0.157000	0.22087	1.338000	0.33873	-0.004000	0.14419	0.462000	0.41574	GGG		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		23	34	1	0	1.10923e-09	1	1.18008e-09	23	34				
C3orf17	25871	broad.mit.edu	37	3	112724716	112724716	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112724716T>C	ENST00000314400.5	-	9	1562	c.1371A>G	c.(1369-1371)ccA>ccG	p.P457P	C3orf17_ENST00000383675.2_Silent_p.P387P|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Silent_p.P321P	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	457					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ACTTTCTCTGTGGTTTCCTTT	0.433																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(1369-1371)ccA>ccG		chromosome 3 open reading frame 17							63.0	57.0	59.0					3																	112724716		2203	4300	6503	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112724716T>C	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1371A>G	3.37:g.112724716T>C						C3orf17_ENST00000393857.2_Silent_p.P321P|C3orf17_ENST00000383675.2_Silent_p.P387P	p.P457P	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			9	1562	-			457					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.1371A>G	CCDS33824.1																																																																																				0.433	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		16	33	0	0	0	1	0	16	33				
PECR	55825	broad.mit.edu	37	2	216923661	216923661	+	Missense_Mutation	SNP	C	C	T	rs138408075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216923661C>T	ENST00000265322.7	-	4	537	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	155					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATGATATTGACGATAGATCCT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19079	0.0		0.0	False		,,,				2504	0.0					ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(463-465)Gtc>Atc		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	125.0	120.0	121.0		463	5.8	1.0	2	dbSNP_134	121	0,8600		0,0,4300	no	missense	PECR	NM_018441.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/304	216923661	1,13005	2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216923661C>T	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.463G>A	2.37:g.216923661C>T	ENSP00000265322:p.Val155Ile					PECR_ENST00000497889.1_5'UTR	p.V155I	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	537	-		Renal(323;0.0327)	155					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.463G>A	CCDS33375.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.7	4.852657	0.91355	2.27E-4	0.0	ENSG00000115425	ENST00000265322	T	0.24538	1.85	5.77	5.77	0.91146	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03287	-1.1052	10	0.17369	T	0.5	.	17.4781	0.87666	0.0:1.0:0.0:0.0	.	155;9	Q9BY49;Q9BY49-2	PECR_HUMAN;.	I	155	ENSP00000265322:V155I	ENSP00000265322:V155I	V	-	1	0	PECR	216631906	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.334000	0.65923	2.723000	0.93209	0.591000	0.81541	GTC		0.383	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		12	32	0	0	0	1	0	12	32				
TACC3	10460	broad.mit.edu	37	4	1730475	1730475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1730475C>T	ENST00000313288.4	+	4	1452	c.1346C>T	c.(1345-1347)gCt>gTt	p.A449V		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	449					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGTTGCATGCTGGGCCTGCC	0.642																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1345-1347)gCt>gTt		transforming, acidic coiled-coil containing protein 3							29.0	33.0	32.0					4																	1730475		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1730475C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1346C>T	4.37:g.1730475C>T	ENSP00000326550:p.Ala449Val						p.A449V	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1452	+		Breast(71;0.212)|all_epithelial(65;0.241)	449					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1346C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872404	0.17322	.	.	ENSG00000013810	ENST00000313288	T	0.10192	2.9	3.66	0.464	0.16706	.	2.563540	0.02043	N	0.049467	T	0.09992	0.0245	L	0.43152	1.355	0.09310	N	1	B;B	0.28713	0.22;0.027	B;B	0.23574	0.047;0.011	T	0.27226	-1.0080	10	0.25751	T	0.34	0.8503	4.6123	0.12408	0.1522:0.6077:0.1483:0.0918	.	449;449	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	V	449	ENSP00000326550:A449V	ENSP00000326550:A449V	A	+	2	0	TACC3	1700273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	0.159000	0.19401	-0.399000	0.06403	GCT		0.642	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			11	13	0	0	0	1	0	11	13				
DNA2	1763	broad.mit.edu	37	10	70182590	70182590	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70182590A>G	ENST00000358410.3	-	15	2316	c.2266T>C	c.(2266-2268)Ttt>Ctt	p.F756L	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.F842L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	756	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAAAAATCAAAAATTTTACGG	0.353																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2524-2526)Ttt>Ctt		DNA replication helicase/nuclease 2							38.0	39.0	39.0					10																	70182590		1791	4061	5852	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182590A>G	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2266T>C	10.37:g.70182590A>G	ENSP00000351185:p.Phe756Leu					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.F756L	p.F842L			P51530	DNA2L_HUMAN			15	2523	-			756					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2524T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.593200|4.593200	0.86953|0.86953	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.87491|.	-2.26;-2.26|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.048510|0.048510	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79458|0.79458	0.4449|0.4449	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72625|.	0.978|.	T|T	0.83043|0.83043	-0.0156|-0.0156	10|6	0.87932|.	D|.	0|.	.|.	11.2577|11.2577	0.49063|0.49063	0.8636:0.0:0.0:0.1364|0.8636:0.0:0.0:0.1364	.|.	756|.	P51530|.	DNA2L_HUMAN|.	L|S	842;756|77	ENSP00000382133:F842L;ENSP00000351185:F756L|.	ENSP00000351185:F756L|.	F|F	-|-	1|2	0|0	DNA2|DNA2	69852596|69852596	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.992000|0.992000	0.81027|0.81027	9.104000|9.104000	0.94239|0.94239	2.223000|2.223000	0.72356|0.72356	0.477000|0.477000	0.44152|0.44152	TTT|TTT		0.353	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			8	36	0	0	0	1	0	8	36				
NADSYN1	55191	broad.mit.edu	37	11	71169582	71169582	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71169582C>T	ENST00000319023.2	+	3	443	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	85	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TCATCTGCGACGTGGGGATGT	0.567																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(253-255)gaC>gaT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						124.0	102.0	110.0					11																	71169582		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71169582C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.255C>T	11.37:g.71169582C>T							p.D85D	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			3	443	+			85			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.255C>T	CCDS8201.1																																																																																				0.567	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		22	32	0	0	0	1	0	22	32				
C17orf74	201243	broad.mit.edu	37	17	7330138	7330138	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7330138G>T	ENST00000333870.3	+	3	902	c.828G>T	c.(826-828)tgG>tgT	p.W276C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	276						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGAGCAGTGGGCCTCGTCTC	0.652																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(826-828)tgG>tgT		chromosome 17 open reading frame 74							38.0	42.0	40.0					17																	7330138		2101	4223	6324	SO:0001583	missense	201243					integral to membrane		g.chr17:7330138G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.828G>T	17.37:g.7330138G>T	ENSP00000328061:p.Trp276Cys					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.W276C	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	902	+		Prostate(122;0.157)	276						Missense_Mutation	SNP	ENST00000333870.3	37	c.828G>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	g	5.130	0.209623	0.09757	.	.	ENSG00000184560	ENST00000333870	T	0.32988	1.43	4.16	0.691	0.18045	.	1.082550	0.07184	N	0.854455	T	0.23611	0.0571	L	0.34521	1.04	0.33681	D	0.612065	B	0.21225	0.053	B	0.18263	0.021	T	0.27971	-1.0058	10	0.72032	D	0.01	-7.1372	6.8483	0.24000	0.0:0.172:0.4744:0.3536	.	276	Q0P670	CQ074_HUMAN	C	276	ENSP00000328061:W276C	ENSP00000328061:W276C	W	+	3	0	C17orf74	7270862	0.001000	0.12720	0.071000	0.20095	0.076000	0.17211	-0.060000	0.11712	0.065000	0.16485	-0.492000	0.04666	TGG		0.652	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		8	18	1	0	3.09899e-07	1	3.24337e-07	8	18				
EXOC6B	23233	broad.mit.edu	37	2	72562096	72562096	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:72562096C>T	ENST00000272427.6	-	20	2306	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	726					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCGATGAAGGCCAACTGCAGC	0.448																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(2176-2178)Gcc>Acc		exocyst complex component 6B							93.0	96.0	95.0					2																	72562096		1903	4127	6030	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72562096C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2176G>A	2.37:g.72562096C>T	ENSP00000272427:p.Ala726Thr					EXOC6B_ENST00000490919.1_5'UTR	p.A726T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			20	2306	-			726					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.2176G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858543	0.32791	.	.	ENSG00000144036	ENST00000272427	T	0.26518	1.73	5.98	5.98	0.97165	.	.	.	.	.	T	0.35653	0.0939	L	0.28274	0.84	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.02098	-1.1214	9	0.06099	T	0.92	.	18.993	0.92801	0.0:1.0:0.0:0.0	.	726	Q9Y2D4	EXC6B_HUMAN	T	726	ENSP00000272427:A726T	ENSP00000272427:A726T	A	-	1	0	EXOC6B	72415604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.839000	0.97877	0.650000	0.86243	GCC		0.448	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		5	41	0	0	0	1	0	5	41				
TTC25	83538	broad.mit.edu	37	17	40095414	40095414	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40095414C>T	ENST00000591658.1	+	0	1115							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACCTGGAGATCGCCAAGGAAT	0.587																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							39.0	42.0	41.0					17																	40095414		2074	4208	6282			83538					cytoplasm	protein binding	g.chr17:40095414C>T	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095414C>T										Q96NG3	TTC25_HUMAN			0	1115	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37																																																																																						0.587	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		8	4	0	0	0	1	0	8	4				
TGM6	343641	broad.mit.edu	37	20	2397994	2397994	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2397994G>T	ENST00000202625.2	+	10	1514	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y	TGM6_ENST00000381423.1_Missense_Mutation_p.D485Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	485					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGGCGTGACGACCTCCTGGA	0.637																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1453-1455)Gac>Tac		transglutaminase 6	L-Glutamine(DB00130)						45.0	38.0	41.0					20																	2397994		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2397994G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1453G>T	20.37:g.2397994G>T	ENSP00000202625:p.Asp485Tyr					TGM6_ENST00000381423.1_Missense_Mutation_p.D485Y	p.D485Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1514	+			485					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1453G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687710	0.29962	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.81163	-1.31;-1.46	4.54	3.59	0.41128	.	0.714197	0.13531	N	0.380946	T	0.81837	0.4907	L	0.44542	1.39	0.31031	N	0.717418	D;D	0.63046	0.992;0.982	P;P	0.58172	0.834;0.612	T	0.78615	-0.2135	10	0.59425	D	0.04	-28.4651	8.6355	0.33945	0.1039:0.0:0.8961:0.0	.	485;485	O95932-2;O95932	.;TGM3L_HUMAN	Y	485	ENSP00000202625:D485Y;ENSP00000370831:D485Y	ENSP00000202625:D485Y	D	+	1	0	TGM6	2345994	0.998000	0.40836	0.660000	0.29694	0.036000	0.12997	3.776000	0.55356	1.155000	0.42497	-0.222000	0.12452	GAC		0.637	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	15	1	0	0.0293803	1	0.0295506	6	15				
IP6K3	117283	broad.mit.edu	37	6	33694579	33694579	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33694579G>A	ENST00000293756.4	-	4	844	c.518C>T	c.(517-519)cCg>cTg	p.P173L	IP6K3_ENST00000451316.1_Missense_Mutation_p.P173L	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	173					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CAGGCCCCACGGGTTGAAGCT	0.607																																						ENST00000451316.1																			0				skin(1)	1						c.(517-519)cCg>cTg		inositol hexakisphosphate kinase 3							96.0	85.0	89.0					6																	33694579		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33694579G>A	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.518C>T	6.37:g.33694579G>A	ENSP00000293756:p.Pro173Leu					IP6K3_ENST00000293756.4_Missense_Mutation_p.P173L	p.P173L	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			5	1053	-			173					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.518C>T	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934873	0.92458	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.25912	1.77;1.77	5.37	5.37	0.77165	.	0.087378	0.50627	D	0.000113	T	0.53932	0.1827	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63712	-0.6575	10	0.87932	D	0	-41.6327	19.0994	0.93268	0.0:0.0:1.0:0.0	.	173	Q96PC2	IP6K3_HUMAN	L	173	ENSP00000398861:P173L;ENSP00000293756:P173L	ENSP00000293756:P173L	P	-	2	0	IP6K3	33802557	1.000000	0.71417	0.962000	0.40283	0.785000	0.44390	9.192000	0.94947	2.529000	0.85273	0.561000	0.74099	CCG		0.607	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		26	45	0	0	0	1	0	26	45				
PCNA	5111	broad.mit.edu	37	20	5098243	5098243	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5098243C>T	ENST00000379160.3	-	5	697	c.455G>A	c.(454-456)aGc>aAc	p.S152N	PCNA_ENST00000379143.5_Missense_Mutation_p.S152N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	152					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TCCAATATGGCTGAGATCTCG	0.373								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.(454-456)aGc>aAc	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							110.0	107.0	108.0					20																	5098243		2203	4300	6503	SO:0001583	missense	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5098243C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.455G>A	20.37:g.5098243C>T	ENSP00000368458:p.Ser152Asn					PCNA_ENST00000379143.5_Missense_Mutation_p.S152N	p.S152N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			5	697	-			152					B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.455G>A	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313402	0.81358	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.24	5.24	0.73138	Proliferating cell nuclear antigen, PCNA, C-terminal (1);	0.126165	0.64402	D	0.000001	T	0.73590	0.3606	M	0.74647	2.275	0.80722	D	1	P	0.44006	0.824	P	0.51895	0.683	T	0.74194	-0.3744	9	0.42905	T	0.14	-10.4414	17.3773	0.87396	0.0:1.0:0.0:0.0	.	152	P12004	PCNA_HUMAN	N	152	.	ENSP00000368438:S152N	S	-	2	0	PCNA	5046243	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.127000	0.71642	2.459000	0.83118	0.462000	0.41574	AGC		0.373	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			5	114	0	0	0	1	0	5	114				
ESRRA	2101	broad.mit.edu	37	11	64074903	64074903	+	Silent	SNP	C	C	T	rs376539921		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64074903C>T	ENST00000405666.1	+	2	486	c.252C>T	c.(250-252)gaC>gaT	p.D84D	ESRRA_ENST00000000442.6_Silent_p.D84D|RP11-783K16.10_ENST00000539086.1_RNA|ESRRA_ENST00000406310.1_Silent_p.D84D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	84					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TCTGTGGGGACGTGGCCTCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.0					ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(250-252)gaC>gaT		estrogen-related receptor alpha		C		1,4107		0,1,2053	17.0	19.0	18.0		252	-8.6	0.8	11		18	1,8417		0,1,4208	no	coding-synonymous	ESRRA	NM_004451.3		0,2,6261	TT,TC,CC		0.0119,0.0243,0.016		84/424	64074903	2,12524	2054	4209	6263	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64074903C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.252C>T	11.37:g.64074903C>T						ESRRA_ENST00000406310.1_Silent_p.D84D|ESRRA_ENST00000000442.6_Silent_p.D84D	p.D84D			P11474	ERR1_HUMAN			2	486	+			84					Q14514	Silent	SNP	ENST00000405666.1	37	c.252C>T	CCDS41667.1																																																																																				0.667	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		7	13	0	0	0	1	0	7	13				
PRR35	146325	broad.mit.edu	37	16	613342	613342	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:613342G>A	ENST00000409413.3	+	2	327	c.48G>A	c.(46-48)gcG>gcA	p.A16A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		16										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GGGCGAGGGCGCGGTCTCGGA	0.662																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(46-48)gcG>gcA		chromosome 16 open reading frame 11							51.0	57.0	55.0					16																	613342		2014	4161	6175	SO:0001819	synonymous_variant	146325							g.chr16:613342G>A																												ENST00000409413.3:c.48G>A	16.37:g.613342G>A							p.A16A	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	327	+			16					B8ZZ27|Q8N233|Q96AX3|Q96S23	Silent	SNP	ENST00000409413.3	37	c.48G>A	CCDS45365.1																																																																																				0.662	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			9	15	0	0	0	1	0	9	15				
LIMS2	55679	broad.mit.edu	37	2	128412098	128412098	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128412098C>T	ENST00000355119.4	-	4	424	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	LIMS2_ENST00000410011.1_Missense_Mutation_p.V82I|LIMS2_ENST00000545738.2_Missense_Mutation_p.V109I|LIMS2_ENST00000409455.1_Missense_Mutation_p.V82I|LIMS2_ENST00000409808.2_Missense_Mutation_p.V82I|LIMS2_ENST00000324938.5_Missense_Mutation_p.V111I	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	87	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCCTTGATGACGCGGCCAATG	0.612																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(244-246)Gtc>Atc		LIM and senescent cell antigen-like domains 2							153.0	138.0	143.0					2																	128412098		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412098C>T	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.259G>A	2.37:g.128412098C>T	ENSP00000347240:p.Val87Ile					LIMS2_ENST00000324938.5_Missense_Mutation_p.V111I|LIMS2_ENST00000355119.4_Missense_Mutation_p.V87I|LIMS2_ENST00000409808.2_Missense_Mutation_p.V82I|LIMS2_ENST00000410011.1_Missense_Mutation_p.V82I|LIMS2_ENST00000545738.2_Missense_Mutation_p.V109I	p.V82I			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	879	-	Colorectal(110;0.1)		87			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.244G>A	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482916	0.84747	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.37	5.37	0.77165	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.65320	2	0.80722	D	1	P;P;D	0.76494	0.887;0.498;0.999	B;B;D	0.76071	0.3;0.237;0.987	D	0.93125	0.6528	10	0.72032	D	0.01	.	19.0997	0.93269	0.0:1.0:0.0:0.0	.	109;87;111	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	I	109;87;111;82;82;82;82;109;82	ENSP00000443794:V109I;ENSP00000347240:V87I;ENSP00000326888:V111I;ENSP00000386383:V82I;ENSP00000386637:V82I;ENSP00000387002:V82I	ENSP00000326888:V111I	V	-	1	0	LIMS2	128128568	1.000000	0.71417	0.937000	0.37676	0.879000	0.50718	7.707000	0.84623	2.523000	0.85059	0.609000	0.83330	GTC		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		33	33	0	0	0	1	0	33	33				
SPATA5L1	79029	broad.mit.edu	37	15	45706807	45706807	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45706807T>C	ENST00000305560.6	+	4	1572	c.1473T>C	c.(1471-1473)gtT>gtC	p.V491V	SPATA5L1_ENST00000559860.1_Silent_p.V491V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	491						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GGGAATTTGTTAGAATGGGCC	0.453																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1471-1473)gtT>gtC		spermatogenesis associated 5-like 1							68.0	67.0	67.0					15																	45706807		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45706807T>C	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1473T>C	15.37:g.45706807T>C						SPATA5L1_ENST00000559860.1_Silent_p.V491V	p.V491V	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	4	1572	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	491					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.1473T>C	CCDS10123.1																																																																																				0.453	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		17	20	0	0	0	1	0	17	20				
MCM6	4175	broad.mit.edu	37	2	136624249	136624249	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136624249C>T	ENST00000264156.2	-	5	725	c.665G>A	c.(664-666)cGc>cAc	p.R222H	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	222					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTCTAAACTGCGGGGGATACT	0.463																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(664-666)cGc>cAc		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						91.0	89.0	90.0					2																	136624249		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136624249C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.665G>A	2.37:g.136624249C>T	ENSP00000264156:p.Arg222His						p.R222H	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	5	725	-			222					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.665G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591665	0.96590	.	.	ENSG00000076003	ENST00000264156	T	0.07688	3.17	5.89	5.89	0.94794	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.51188	T	0.08	-10.2118	20.2562	0.98421	0.0:1.0:0.0:0.0	.	222	Q14566	MCM6_HUMAN	H	222	ENSP00000264156:R222H	ENSP00000264156:R222H	R	-	2	0	MCM6	136340719	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	7.435000	0.80391	2.797000	0.96272	0.563000	0.77884	CGC		0.463	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		4	124	0	0	0	1	0	4	124				
AMPD2	271	broad.mit.edu	37	1	110169887	110169887	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110169887G>A	ENST00000256578.3	+	7	1331	c.971G>A	c.(970-972)cGc>cAc	p.R324H	AMPD2_ENST00000528454.1_Missense_Mutation_p.R206H|AMPD2_ENST00000342115.4_Missense_Mutation_p.R243H|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.R324H|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.R205H|AMPD2_ENST00000358729.4_Missense_Mutation_p.R249H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	324					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R324H(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGGGTCTGCGCATGGTGCGG	0.667																																						ENST00000256578.3																			1	Substitution - Missense(1)	p.R324H(1)	endometrium(1)	breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(970-972)cGc>cAc		adenosine monophosphate deaminase 2							101.0	108.0	106.0					1																	110169887		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110169887G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.971G>A	1.37:g.110169887G>A	ENSP00000256578:p.Arg324His					AMPD2_ENST00000358729.4_Missense_Mutation_p.R249H|AMPD2_ENST00000393688.3_Missense_Mutation_p.R205H|AMPD2_ENST00000342115.4_Missense_Mutation_p.R243H|AMPD2_ENST00000528667.1_Missense_Mutation_p.R324H|AMPD2_ENST00000528454.1_Missense_Mutation_p.R206H|AMPD2_ENST00000526301.1_3'UTR	p.R324H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	1331	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	324					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.971G>A	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759775	0.49468	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.71	3.8	0.43715	.	0.142359	0.45867	N	0.000325	T	0.62245	0.2412	L	0.31476	0.935	0.29930	N	0.822009	P;P;P;P	0.49358	0.923;0.897;0.886;0.897	B;P;B;B	0.45946	0.385;0.498;0.321;0.397	T	0.61019	-0.7147	10	0.51188	T	0.08	-23.0323	6.1639	0.20380	0.2854:0.0:0.7146:0.0	.	249;205;324;243	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	H	243;324;324;249;206;205	ENSP00000345498:R243H;ENSP00000436541:R324H;ENSP00000256578:R324H;ENSP00000351573:R249H;ENSP00000437164:R206H;ENSP00000377292:R205H	ENSP00000256578:R324H	R	+	2	0	AMPD2	109971410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.099000	0.57755	1.202000	0.43218	0.462000	0.41574	CGC		0.667	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			20	46	0	0	0	1	0	20	46				
FAM47C	442444	broad.mit.edu	37	X	37027835	37027835	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37027835G>A	ENST00000358047.3	+	1	1404	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	451								p.R451P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.617																																						ENST00000358047.3																			2	Substitution - Missense(2)	p.R451P(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1351-1353)cGc>cAc		family with sequence similarity 47, member C							64.0	62.0	63.0					X																	37027835		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027835G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1352G>A	X.37:g.37027835G>A	ENSP00000367913:p.Arg451His						p.R451H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1404	+			451					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1352G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	12.75	2.032147	0.35893	.	.	ENSG00000198173	ENST00000358047	T	0.21191	2.02	1.46	-2.93	0.05598	.	.	.	.	.	T	0.07143	0.0181	N	0.05124	-0.11	0.09310	N	1	B	0.31125	0.309	B	0.19946	0.027	T	0.27773	-1.0064	9	0.40728	T	0.16	.	4.2486	0.10684	0.2229:0.53:0.2471:0.0	.	451	Q5HY64	FA47C_HUMAN	H	451	ENSP00000367913:R451H	ENSP00000367913:R451H	R	+	2	0	FAM47C	36937756	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.427000	0.02441	-0.353000	0.08224	-0.527000	0.04329	CGC		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		58	9	0	0	0	1	0	58	9				
CLEC4F	165530	broad.mit.edu	37	2	71047617	71047617	+	Silent	SNP	C	C	T	rs558668449		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71047617C>T	ENST00000272367.2	-	1	115	c.39G>A	c.(37-39)caG>caA	p.Q13Q	CLEC4F_ENST00000426626.1_Silent_p.Q13Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	13					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGAGACACACTGGTTATCTG	0.617																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(37-39)caG>caA		C-type lectin domain family 4, member F							107.0	77.0	87.0					2																	71047617		2203	4299	6502	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71047617C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.39G>A	2.37:g.71047617C>T						CLEC4F_ENST00000426626.1_Silent_p.Q13Q	p.Q13Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			1	115	-			13					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.39G>A	CCDS1910.1																																																																																				0.617	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		6	7	0	0	0	1	0	6	7				
RAI14	26064	broad.mit.edu	37	5	34811225	34811225	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34811225T>C	ENST00000265109.3	+	8	844		c.e8+2		RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAGTGGAAGGTACTCCAGAAT	0.398																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e8+2		retinoic acid induced 14							145.0	137.0	140.0					5																	34811225		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811225T>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.557+2T>C	5.37:g.34811225T>C						RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			8	844	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886074	0.72410	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9191	0.79547	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34846982	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.723000	0.68492	2.156000	0.67533	0.477000	0.44152	.		0.398	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	11	95	0	0	0	1	0	11	95				
PTPN4	5775	broad.mit.edu	37	2	120714453	120714453	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:120714453T>G	ENST00000263708.2	+	21	2785	c.2014T>G	c.(2014-2016)Tcc>Gcc	p.S672A	PTPN4_ENST00000544261.1_Missense_Mutation_p.S305A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	672	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AATGACAATGTCCTGTGCCAA	0.294																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(2014-2016)Tcc>Gcc		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						82.0	92.0	89.0					2																	120714453		2203	4296	6499	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120714453T>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2014T>G	2.37:g.120714453T>G	ENSP00000263708:p.Ser672Ala					PTPN4_ENST00000544261.1_Missense_Mutation_p.S305A	p.S672A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			21	2785	+			672			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2014T>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554999	0.27739	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.14266	2.52;2.52	5.39	5.39	0.77823	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.277200	0.37483	N	0.002063	T	0.15696	0.0378	L	0.46819	1.47	0.48571	D	0.999679	B	0.06786	0.001	B	0.06405	0.002	T	0.01725	-1.1287	10	0.59425	D	0.04	.	15.3991	0.74823	0.0:0.0:0.0:1.0	.	672	P29074	PTN4_HUMAN	A	672;305	ENSP00000263708:S672A;ENSP00000445841:S305A	ENSP00000263708:S672A	S	+	1	0	PTPN4	120430923	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	2.544000	0.45761	2.028000	0.59812	0.533000	0.62120	TCC		0.294	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			23	65	0	0	0	1	0	23	65				
SGTA	6449	broad.mit.edu	37	19	2762503	2762503	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2762503C>T	ENST00000221566.2	-	7	798		c.e7+1			NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha						viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCACTCACGGGGCTGGGG	0.637																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.e7+1		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							64.0	63.0	64.0					19																	2762503		2203	4300	6503	SO:0001630	splice_region_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2762503C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.636+1G>A	19.37:g.2762503C>T								NM_003021.3	NP_003012.1	O43765	SGTA_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)	7	798	-		Hepatocellular(1079;0.137)						D6W610|Q6FIA9|Q9BTZ9	Splice_Site	SNP	ENST00000221566.2	37		CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963644	0.34659	.	.	ENSG00000104969	ENST00000221566	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0511	0.42216	0.0:0.8973:0.0:0.1027	.	.	.	.	.	-1	.	.	.	-	.	.	SGTA	2713503	1.000000	0.71417	0.021000	0.16686	0.007000	0.05969	5.615000	0.67702	0.690000	0.31570	-0.136000	0.14681	.		0.637	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021	Intron	26	40	0	0	0	1	0	26	40				
PVRL2	5819	broad.mit.edu	37	19	45368708	45368708	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45368708G>A	ENST00000252483.5	+	2	269	c.269G>A	c.(268-270)gGt>gAt	p.G90D	PVRL2_ENST00000252485.4_Missense_Mutation_p.G90D	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	90	Ig-like V-type.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTAAGATGGGTCCCAGCTTC	0.637																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(268-270)gGt>gAt		poliovirus receptor-related 2 (herpesvirus entry mediator B)							56.0	48.0	51.0					19																	45368708		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45368708G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.269G>A	19.37:g.45368708G>A	ENSP00000252483:p.Gly90Asp					PVRL2_ENST00000252485.4_Missense_Mutation_p.G90D	p.G90D	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	2	269	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	90			Ig-like V-type.		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.269G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331754	0.81801	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.65916	-0.18;-0.18	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000039	T	0.80549	0.4644	M	0.87682	2.9	0.32537	N	0.534216	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	D	0.85895	0.1431	10	0.87932	D	0	.	13.41	0.60938	0.0:0.0:1.0:0.0	.	90;90	Q92692;Q92692-2	PVRL2_HUMAN;.	D	90	ENSP00000252483:G90D;ENSP00000252485:G90D	ENSP00000252483:G90D	G	+	2	0	PVRL2	50060548	1.000000	0.71417	0.146000	0.22360	0.441000	0.31987	4.520000	0.60524	2.625000	0.88918	0.542000	0.68232	GGT		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		4	10	0	0	0	1	0	4	10				
NODAL	4838	broad.mit.edu	37	10	72192802	72192802	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72192802A>G	ENST00000287139.3	-	3	933	c.934T>C	c.(934-936)Tgt>Cgt	p.C312R	AC022532.1_ENST00000420338.2_5'Flank	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	312					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGGGCACAACAAGTGGAAGGG	0.498																																						ENST00000287139.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						c.(934-936)Tgt>Cgt		nodal growth differentiation factor							205.0	182.0	190.0					10																	72192802		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72192802A>G	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.934T>C	10.37:g.72192802A>G	ENSP00000287139:p.Cys312Arg						p.C312R	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN			3	933	-			312					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.934T>C	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199161	0.38806	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.95069	-3.6;-3.6	5.84	5.84	0.93424	Transforming growth factor-beta, C-terminal (3);	0.092704	0.85682	D	0.000000	D	0.97670	0.9236	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98523	1.0624	10	0.87932	D	0	.	15.1984	0.73116	1.0:0.0:0.0:0.0	.	312	Q96S42	NODAL_HUMAN	R	312;257	ENSP00000287139:C312R;ENSP00000394468:C257R	ENSP00000287139:C312R	C	-	1	0	NODAL	71862808	0.998000	0.40836	0.998000	0.56505	0.915000	0.54546	4.554000	0.60760	2.243000	0.73865	0.533000	0.62120	TGT		0.498	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		37	46	0	0	0	1	0	37	46				
EPHX1	2052	broad.mit.edu	37	1	226026519	226026519	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226026519G>A	ENST00000366837.4	+	4	725	c.529G>A	c.(529-531)Gtt>Att	p.V177I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.V177I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	177					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGATGAGCACGTTTTTGAAGT	0.552																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(529-531)Gtt>Att		epoxide hydrolase 1, microsomal (xenobiotic)							129.0	113.0	118.0					1																	226026519		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026519G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.529G>A	1.37:g.226026519G>A	ENSP00000355802:p.Val177Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.V177I	p.V177I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	725	+	Breast(184;0.197)		177					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.529G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776684	0.31411	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.03860	3.78;3.78	5.69	0.471	0.16752	.	0.329168	0.31936	N	0.006822	T	0.04137	0.0115	L	0.38733	1.17	0.09310	N	0.999997	B	0.15930	0.015	B	0.10450	0.005	T	0.42032	-0.9475	9	.	.	.	-19.6192	10.5972	0.45345	0.4839:0.0:0.5161:0.0	.	177	P07099	HYEP_HUMAN	I	177	ENSP00000272167:V177I;ENSP00000355802:V177I	.	V	+	1	0	EPHX1	224093142	0.011000	0.17503	0.057000	0.19452	0.942000	0.58702	0.317000	0.19487	0.304000	0.22809	-0.254000	0.11334	GTT		0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	87	0	0	0	1	0	4	87				
NDOR1	27158	broad.mit.edu	37	9	140109367	140109367	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140109367C>T	ENST00000344894.5	+	8	1045	c.962C>T	c.(961-963)tCc>tTc	p.S321F	NDOR1_ENST00000427047.2_Missense_Mutation_p.S287F|NDOR1_ENST00000458322.2_Missense_Mutation_p.S321F|NDOR1_ENST00000371521.4_Missense_Mutation_p.S321F	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGTCTATCCCTCCATGAG	0.632																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(961-963)tCc>tTc		NADPH dependent diflavin oxidoreductase 1							45.0	47.0	46.0					9																	140109367		2203	4299	6502	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109367C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.962C>T	9.37:g.140109367C>T	ENSP00000343344:p.Ser321Phe					NDOR1_ENST00000427047.2_Missense_Mutation_p.S287F|NDOR1_ENST00000344894.5_Missense_Mutation_p.S321F|NDOR1_ENST00000458322.2_Missense_Mutation_p.S321F	p.S321F	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	8	1045	+	all_cancers(76;0.0926)		321			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.962C>T	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316549	0.60524	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.84	4.84	0.62591	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.060700	0.64402	D	0.000004	D	0.82962	0.5151	M	0.83774	2.66	0.52099	D	0.999941	D;D;D;D	0.76494	0.999;0.994;0.999;0.995	D;D;D;D	0.75484	0.986;0.971;0.976;0.971	D	0.86003	0.1496	10	0.87932	D	0	-10.0409	16.847	0.85983	0.0:1.0:0.0:0.0	.	321;287;321;321	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	F	321;287;321;321	ENSP00000389905:S321F;ENSP00000394309:S287F;ENSP00000360576:S321F;ENSP00000343344:S321F	ENSP00000343344:S321F	S	+	2	0	NDOR1	139229188	1.000000	0.71417	0.082000	0.20525	0.400000	0.30750	7.170000	0.77587	2.400000	0.81607	0.561000	0.74099	TCC		0.632	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		23	35	0	0	0	1	0	23	35				
MYOM2	9172	broad.mit.edu	37	8	2026842	2026842	+	Silent	SNP	G	G	A	rs141170833		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2026842G>A	ENST00000262113.4	+	12	1431	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	430	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAATTGGGTGCAGTGCAATG	0.413																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1288-1290)gtG>gtA		myomesin 2		G		0,4406		0,0,2203	101.0	112.0	108.0		1290	-9.4	0.3	8	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		430/1466	2026842	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026842G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1290G>A	8.37:g.2026842G>A						MYOM2_ENST00000523438.1_Intron	p.V430V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1431	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	430			Fibronectin type-III 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1290G>A	CCDS5957.1																																																																																				0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		39	76	0	0	0	1	0	39	76				
EP400	57634	broad.mit.edu	37	12	132474615	132474615	+	Missense_Mutation	SNP	G	G	A	rs77464971		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132474615G>A	ENST00000333577.4	+	9	2733	c.2624G>A	c.(2623-2625)cGg>cAg	p.R875Q	EP400_ENST00000332482.4_Missense_Mutation_p.R802Q|EP400_ENST00000330386.6_Missense_Mutation_p.R839Q|EP400_ENST00000389561.2_Missense_Mutation_p.R839Q|EP400_ENST00000389562.2_Missense_Mutation_p.R838Q			Q96L91	EP400_HUMAN	E1A binding protein p400	875					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R838Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCACGGCCCGGGAGATAGAG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17994	0.0		0.0	False		,,,				2504	0.0					ENST00000333577.4																			1	Substitution - Missense(1)	p.R838Q(1)	endometrium(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2623-2625)cGg>cAg		E1A binding protein p400							83.0	90.0	87.0					12																	132474615		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132474615G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2624G>A	12.37:g.132474615G>A	ENSP00000333602:p.Arg875Gln					EP400_ENST00000332482.4_Missense_Mutation_p.R802Q|EP400_ENST00000389561.2_Missense_Mutation_p.R839Q|EP400_ENST00000389562.2_Missense_Mutation_p.R838Q|EP400_ENST00000330386.6_Missense_Mutation_p.R839Q	p.R875Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	9	2733	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	875					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2624G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.91	1.781029	0.31502	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90844	-2.74;-2.72;-2.72;-2.72;-2.72	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.70275	2.135	0.35337	D	0.786134	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.927;1.0	D;D;D;P;D	0.85130	0.987;0.987;0.987;0.452;0.997	D	0.97323	0.9945	10	0.66056	D	0.02	.	18.9004	0.92440	0.0:0.0:1.0:0.0	.	839;839;838;875;802	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	Q	802;875;839;838;802;839;875;839;839	ENSP00000333602:R875Q;ENSP00000374212:R839Q;ENSP00000374213:R838Q;ENSP00000331737:R802Q;ENSP00000330620:R839Q	ENSP00000330620:R839Q	R	+	2	0	EP400	131040568	0.984000	0.35163	0.078000	0.20375	0.044000	0.14063	6.225000	0.72271	2.539000	0.85634	0.603000	0.83216	CGG		0.577	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	65	0	0	0	1	0	8	65				
PMF1	11243	broad.mit.edu	37	1	156206122	156206122	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156206122G>T	ENST00000368273.4	+	4	428	c.418G>T	c.(418-420)Gca>Tca	p.A140S	PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368277.3_Missense_Mutation_p.A138S|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A138S	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.A138S(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAGTGTTATGGCACCCTACTT	0.637																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			1	Substitution - Missense(1)	p.A138S(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(3)	6						c.(412-414)Gca>Tca		polyamine-modulated factor 1							84.0	84.0	84.0					1																	156206122		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156206122G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.418G>T	1.37:g.156206122G>T	ENSP00000357256:p.Ala140Ser					PMF1_ENST00000368273.4_Missense_Mutation_p.A140S|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368279.3_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A138S|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron	p.A138S	NM_007221.3	NP_009152.2					4	421	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368273.4	37	c.412G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757994	0.49468	.	.	ENSG00000160783	ENST00000368273;ENST00000368277	T;T	0.28895	1.59;1.59	5.81	3.53	0.40419	.	.	.	.	.	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	P	0.36354	0.549	B	0.40199	0.322	T	0.04467	-1.0949	9	0.59425	D	0.04	.	10.9117	0.47112	0.083:0.1649:0.7522:0.0	.	138	Q6P1K2	PMF1_HUMAN	S	140;138	ENSP00000357256:A140S;ENSP00000357260:A138S	ENSP00000357256:A140S	A	+	1	0	PMF1	154472746	0.987000	0.35691	0.854000	0.33618	0.560000	0.35617	1.107000	0.31110	1.365000	0.46057	0.650000	0.86243	GCA		0.637	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		7	73	1	0	2.0095e-06	1	2.09073e-06	7	73				
CTNNAL1	8727	broad.mit.edu	37	9	111761528	111761528	+	Silent	SNP	C	C	T	rs368581163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111761528C>T	ENST00000325551.4	-	2	236	c.150G>A	c.(148-150)acG>acA	p.T50T	CTNNAL1_ENST00000325580.6_Silent_p.T50T|CTNNAL1_ENST00000374593.4_Silent_p.T50T|CTNNAL1_ENST00000374595.4_Silent_p.T50T	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	50					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.T50T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GATTAATAAGCGTGGTGATCT	0.328																																						ENST00000374595.4																			1	Substitution - coding silent(1)	p.T50T(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(148-150)acG>acA		catenin (cadherin-associated protein), alpha-like 1		T		0,4406		0,0,2203	96.0	102.0	100.0		150	0.8	1.0	9		100	1,8599	816.3+/-406.9	0,1,4299	no	coding-synonymous	CTNNAL1	NM_003798.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		50/735	111761528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111761528C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.150G>A	9.37:g.111761528C>T						CTNNAL1_ENST00000325580.6_Silent_p.T50T|CTNNAL1_ENST00000374593.4_Silent_p.T50T|CTNNAL1_ENST00000325551.4_Silent_p.T50T	p.T50T			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	2	229	-			50					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.150G>A	CCDS6775.1																																																																																				0.328	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		20	102	0	0	0	1	0	20	102				
LRRN1	57633	broad.mit.edu	37	3	3886567	3886567	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3886567G>A	ENST00000319331.3	+	2	1003	c.242G>A	c.(241-243)aGc>aAc	p.S81N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	81						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTCTTACAGAGCAATAACATC	0.438																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(241-243)aGc>aAc		leucine rich repeat neuronal 1							97.0	90.0	92.0					3																	3886567		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886567G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.242G>A	3.37:g.3886567G>A	ENSP00000314901:p.Ser81Asn					SUMF1_ENST00000534863.1_Intron	p.S81N	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1003	+			81					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.242G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870974	0.91587	.	.	ENSG00000175928	ENST00000319331	T	0.22743	1.94	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.21545	0.675	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.02371	-1.1169	10	0.38643	T	0.18	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	81	Q6UXK5	LRRN1_HUMAN	N	81	ENSP00000314901:S81N	ENSP00000314901:S81N	S	+	2	0	LRRN1	3861567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	AGC		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		17	43	0	0	0	1	0	17	43				
EGR1	1958	broad.mit.edu	37	5	137803314	137803314	+	Silent	SNP	C	C	T	rs199707977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137803314C>T	ENST00000239938.4	+	2	1448	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	392					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCACACAGGCGAAAAGCCCT	0.582																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1174-1176)ggC>ggT		early growth response 1							81.0	82.0	81.0					5																	137803314		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803314C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1176C>T	5.37:g.137803314C>T							p.G392G	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1448	+			392						Silent	SNP	ENST00000239938.4	37	c.1176C>T	CCDS4206.1																																																																																				0.582	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		25	42	0	0	0	1	0	25	42				
ADCY5	111	broad.mit.edu	37	3	123010043	123010043	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123010043C>T	ENST00000462833.1	-	18	4456	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E732K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E740K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1082	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACGTAGAACTCGGAGAAGTTG	0.592																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3244-3246)Gag>Aag		adenylate cyclase 5							93.0	74.0	81.0					3																	123010043		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123010043C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3244G>A	3.37:g.123010043C>T	ENSP00000419361:p.Glu1082Lys					ADCY5_ENST00000309879.5_Missense_Mutation_p.E732K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E740K	p.E1082K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4456	-			1082			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3244G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691163	0.96793	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.29917	1.55;1.55;1.55	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.69307	0.786;0.963	T	0.39461	-0.9613	10	0.51188	T	0.08	.	17.4829	0.87679	0.0:1.0:0.0:0.0	.	1082;740	O95622;B3KWA8	ADCY5_HUMAN;.	K	1082;740;732	ENSP00000419361:E1082K;ENSP00000418537:E740K;ENSP00000308685:E732K	ENSP00000308685:E732K	E	-	1	0	ADCY5	124492733	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.646000	0.83445	2.362000	0.80069	0.563000	0.77884	GAG		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		4	18	0	0	0	1	0	4	18				
SLC7A7	9056	broad.mit.edu	37	14	23282294	23282294	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23282294G>A	ENST00000397532.3	-	2	839	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC7A7_ENST00000397529.2_Missense_Mutation_p.A105V|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A105V|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A105V|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A105V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	105					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CAGGATATAGGCATAGCTGGC	0.557																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(313-315)gCc>gTc		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							120.0	125.0	124.0					14																	23282294		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282294G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.314C>T	14.37:g.23282294G>A	ENSP00000380666:p.Ala105Val					SLC7A7_ENST00000397528.4_Missense_Mutation_p.A105V|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A105V|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A105V|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A105V	p.A105V			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	2	839	-	all_cancers(95;8.44e-05)		105					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.314C>T	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123914	0.94429	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554758;ENST00000488800;ENST00000555251;ENST00000557629;ENST00000555911;ENST00000557129	D;D;D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.41	5.41	0.78517	Amino acid permease domain (1);	0.050723	0.85682	D	0.000000	D	0.91119	0.7204	L	0.52126	1.63	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.91897	0.5528	10	0.87932	D	0	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	105	Q9UM01	YLAT1_HUMAN	V	105;105;105;78;105;105;105;105;105;105;105;105	ENSP00000285850:A105V;ENSP00000451881:A105V;ENSP00000380666:A105V;ENSP00000380663:A105V;ENSP00000380662:A105V;ENSP00000450671:A105V;ENSP00000421554:A105V;ENSP00000451983:A105V;ENSP00000450495:A105V;ENSP00000452551:A105V;ENSP00000450729:A105V	ENSP00000285850:A105V	A	-	2	0	SLC7A7	22352134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.552000	0.86080	0.591000	0.81541	GCC		0.557	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			24	43	0	0	0	1	0	24	43				
GLYR1	84656	broad.mit.edu	37	16	4882006	4882006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4882006G>A	ENST00000321919.9	-	5	587	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000591451.1_Missense_Mutation_p.R171W|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.R171W	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	171					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R171G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GGCCGACCCCGCTTCCGGGGA	0.498																																						ENST00000321919.9																			1	Substitution - Missense(1)	p.R171G(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(511-513)Cgg>Tgg		glyoxylate reductase 1 homolog (Arabidopsis)							49.0	54.0	52.0					16																	4882006		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882006G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.511C>T	16.37:g.4882006G>A	ENSP00000322716:p.Arg171Trp					GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000381983.3_Missense_Mutation_p.R171W|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.R171W	p.R171W	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			5	587	-			171					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.511C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422164	0.83559	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.67523	-0.27;-0.25	5.29	5.29	0.74685	AT hook, DNA-binding motif (1);	0.243111	0.41194	D	0.000928	T	0.58538	0.2129	N	0.14661	0.345	0.52501	D	0.999954	D;D;D	0.67145	0.996;0.996;0.993	P;P;B	0.47573	0.55;0.55;0.348	T	0.66248	-0.5971	10	0.66056	D	0.02	-14.5991	18.0706	0.89405	0.0:0.0:1.0:0.0	.	171;171;171	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	W	171	ENSP00000322716:R171W;ENSP00000371413:R171W	ENSP00000322716:R171W	R	-	1	2	GLYR1	4822007	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.774000	0.75012	2.634000	0.89283	0.650000	0.86243	CGG		0.498	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		25	43	0	0	0	1	0	25	43				
KMT2C	58508	broad.mit.edu	37	7	151917819	151917819	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151917819G>A	ENST00000262189.6	-	23	3719	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	KMT2C_ENST00000355193.2_Splice_Site_p.D1167D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1167					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTGGGTGGGTCTAAAATTA	0.388																																						ENST00000355193.2																			0											c.e23-1		lysine (K)-specific methyltransferase 2C							33.0	32.0	32.0					7																	151917819		2202	4296	6498	SO:0001630	splice_region_variant	58508							g.chr7:151917819G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3500-1C>T	7.37:g.151917819G>A						KMT2C_ENST00000262189.6_Splice_Site_p.D1167_splice	p.D1167_splice							23	3719	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.3499_splice	CCDS5931.1																																																																																				0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Silent	19	21	0	0	0	1	0	19	21				
SLC40A1	30061	broad.mit.edu	37	2	190428718	190428718	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190428718C>T	ENST00000261024.2	-	7	1420	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	332					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGAGTGTAGGCGTACCCTGTG	0.488																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(994-996)Gcc>Acc		solute carrier family 40 (iron-regulated transporter), member 1							99.0	80.0	87.0					2																	190428718		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428718C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.994G>A	2.37:g.190428718C>T	ENSP00000261024:p.Ala332Thr						p.A332T	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1420	-			332					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.994G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567690	0.96540	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.81579	-1.51	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.67700	2.07	0.80722	D	1	D	0.60160	0.987	P	0.51516	0.672	D	0.85529	0.1208	10	0.54805	T	0.06	-20.014	20.5632	0.99335	0.0:1.0:0.0:0.0	.	332	Q9NP59	S40A1_HUMAN	T	332;67	ENSP00000261024:A332T	ENSP00000261024:A332T	A	-	1	0	SLC40A1	190136963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.762000	0.85270	2.937000	0.99478	0.650000	0.86243	GCC		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			5	9	0	0	0	1	0	5	9				
CD47	961	broad.mit.edu	37	3	107778299	107778299	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:107778299C>A	ENST00000361309.5	-	5	796	c.691G>T	c.(691-693)Gcg>Tcg	p.A231S	CD47_ENST00000355354.7_Splice_Site_p.A231S	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	231					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GAAAACTCACCTGTACTAAAC	0.299																																						ENST00000355354.7																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.e5+1		CD47 molecule							82.0	76.0	78.0					3																	107778299		1809	4056	5865	SO:0001630	splice_region_variant	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107778299C>A		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.691+1G>T	3.37:g.107778299C>A						CD47_ENST00000361309.5_Splice_Site_p.A231_splice	p.A231_splice	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		5	807	-			231					A8K198|D3DN59|Q53Y71|Q96A60	Splice_Site	SNP	ENST00000361309.5	37	c.691_splice	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.793|9.793	1.178452|1.178452	0.21787|0.21787	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000355354;ENST00000361309|ENST00000517766	.|.	.|.	.|.	5.83|5.83	2.08|2.08	0.27032|0.27032	CD47 transmembrane (1);|.	0.793468|.	0.11735|.	N|.	0.534601|.	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.40543|0.40543	1.245|1.245	0.26844|0.26844	N|N	0.96831|0.96831	B;B;B;B|.	0.24426|.	0.084;0.084;0.103;0.103|.	B;B;B;B|.	0.31547|.	0.081;0.081;0.132;0.132|.	T|T	0.25082|0.25082	-1.0142|-1.0142	8|5	.|.	.|.	.|.	.|.	4.8696|4.8696	0.13625|0.13625	0.1472:0.6163:0.0:0.2365|0.1472:0.6163:0.0:0.2365	.|.	231;231;231;231|.	Q08722-2;Q08722-3;E9PB22;Q08722|.	.;.;.;CD47_HUMAN|.	S|H	231|27	.|.	.|.	A|Q	-|-	1|3	0|2	CD47|CD47	109260989|109260989	1.000000|1.000000	0.71417|0.71417	0.265000|0.265000	0.24526|0.24526	0.429000|0.429000	0.31625|0.31625	0.889000|0.889000	0.28282|0.28282	0.104000|0.104000	0.17725|0.17725	-0.150000|-0.150000	0.13652|0.13652	GCG|CAG		0.299	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	Missense_Mutation	23	35	1	0	2.21704e-12	1	2.3975e-12	23	35				
NCAPD2	9918	broad.mit.edu	37	12	6626006	6626006	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6626006C>T	ENST00000315579.5	+	10	1799	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R289C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	334	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTACATGATGCGTAATGCTGT	0.502																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1000-1002)Cgt>Tgt		non-SMC condensin I complex, subunit D2							81.0	75.0	77.0					12																	6626006		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626006C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1000C>T	12.37:g.6626006C>T	ENSP00000325017:p.Arg334Cys					NCAPD2_ENST00000545962.1_Missense_Mutation_p.R289C	p.R334C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			10	1799	+			334			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1000C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471971	0.84533	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.26810	1.71;1.71;1.71	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.66638	-0.5873	10	0.87932	D	0	-16.0848	13.9765	0.64277	0.1516:0.8484:0.0:0.0	.	289;295;334	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	334;206;289;206	ENSP00000325017:R334C;ENSP00000371895:R206C;ENSP00000444417:R289C	ENSP00000325017:R334C	R	+	1	0	NCAPD2	6496267	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.184000	0.58323	2.493000	0.84123	0.455000	0.32223	CGT		0.502	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		16	28	0	0	0	1	0	16	28				
MVB12A	93343	broad.mit.edu	37	19	17533145	17533145	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17533145C>A	ENST00000317040.7	+	4	1346	c.291C>A	c.(289-291)gcC>gcA	p.A97A	CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000529939.1_Silent_p.A97A|MVB12A_ENST00000543795.1_Silent_p.A97A|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000392702.2_Silent_p.A97A|CTD-2521M24.8_ENST00000597028.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	97	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TCCCAGAGGCCTCTGTGTCCA	0.597																																						ENST00000317040.7																			0											c.(289-291)gcC>gcA		multivesicular body subunit 12A							94.0	87.0	90.0					19																	17533145		2203	4300	6503	SO:0001819	synonymous_variant	93343							g.chr19:17533145C>A	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.291C>A	19.37:g.17533145C>A						MVB12A_ENST00000392702.2_Silent_p.A97A|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000529939.1_Silent_p.A97A|MVB12A_ENST00000543795.1_Silent_p.A97A	p.A97A							4	1346	+								Q96I18	Silent	SNP	ENST00000317040.7	37	c.291C>A	CCDS12359.1																																																																																				0.597	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		18	21	1	0	2.4624e-09	1	2.6129e-09	18	21				
CR2	1380	broad.mit.edu	37	1	207640140	207640140	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207640140C>T	ENST00000367058.3	+	2	517	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	CR2_ENST00000367057.3_Missense_Mutation_p.H110Y|CR2_ENST00000458541.2_Missense_Mutation_p.H110Y|CR2_ENST00000367059.3_Missense_Mutation_p.H110Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	110	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACCCTACAGACATGGTGATTC	0.418																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(328-330)Cat>Tat		complement component (3d/Epstein Barr virus) receptor 2							105.0	101.0	102.0					1																	207640140		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640140C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.328C>T	1.37:g.207640140C>T	ENSP00000356025:p.His110Tyr					CR2_ENST00000367059.3_Missense_Mutation_p.H110Y|CR2_ENST00000367058.3_Missense_Mutation_p.H110Y|CR2_ENST00000458541.2_Missense_Mutation_p.H110Y	p.H110Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	517	+			110			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.328C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752571	0.31046	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.0	5.0	0.66597	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46249	0.1383	N	0.16743	0.435	0.36766	D	0.883538	P;B;B	0.40909	0.732;0.441;0.34	B;B;B	0.44163	0.443;0.386;0.197	T	0.48980	-0.8986	9	0.02654	T	1	.	13.6796	0.62476	0.0:1.0:0.0:0.0	.	110;110;110	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	110	ENSP00000356025:H110Y;ENSP00000356024:H110Y;ENSP00000356026:H110Y;ENSP00000404222:H110Y	ENSP00000356024:H110Y	H	+	1	0	CR2	205706763	0.901000	0.30685	0.937000	0.37676	0.028000	0.11728	1.882000	0.39648	2.607000	0.88179	0.655000	0.94253	CAT		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		11	40	0	0	0	1	0	11	40				
TTBK2	146057	broad.mit.edu	37	15	43122251	43122251	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43122251C>T	ENST00000267890.6	-	5	425	c.317G>A	c.(316-318)cGt>cAt	p.R106H	TTBK2_ENST00000567840.1_Missense_Mutation_p.R106H|TTBK2_ENST00000567274.1_Missense_Mutation_p.R106H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGACTGGCTACGGCGAAGATC	0.428																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(316-318)cGt>cAt		tau tubulin kinase 2							84.0	78.0	80.0					15																	43122251		1868	4124	5992	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43122251C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.317G>A	15.37:g.43122251C>T	ENSP00000267890:p.Arg106His					TTBK2_ENST00000567274.1_Missense_Mutation_p.R106H|TTBK2_ENST00000567840.1_Missense_Mutation_p.R106H	p.R106H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	5	425	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	106			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.317G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763396	0.69763	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66460	-0.21	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.80025	-0.1555	10	0.87932	D	0	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	86;37;106;106	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	H	106;36;86	ENSP00000267890:R106H	ENSP00000263802:R86H	R	-	2	0	TTBK2	40909543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	CGT		0.428	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		18	31	0	0	0	1	0	18	31				
CGNL1	84952	broad.mit.edu	37	15	57730821	57730821	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57730821G>A	ENST00000281282.5	+	2	702	c.624G>A	c.(622-624)ccG>ccA	p.P208P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	208	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGGAAGACCCGGCCAAATCTG	0.488																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(622-624)ccG>ccA		cingulin-like 1							134.0	136.0	135.0					15																	57730821		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57730821G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.624G>A	15.37:g.57730821G>A							p.P208P	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	702	+			208			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.624G>A	CCDS10161.1																																																																																				0.488	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		52	107	0	0	0	1	0	52	107				
ENOSF1	55556	broad.mit.edu	37	18	683281	683281	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:683281G>A	ENST00000251101.7	-	11	929	c.841C>T	c.(841-843)Cct>Tct	p.P281S	ENOSF1_ENST00000340116.7_Missense_Mutation_p.P302S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000319815.6_Missense_Mutation_p.P51S|ENOSF1_ENST00000383578.3_Missense_Mutation_p.P199S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.P205S	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	281					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATGTCATCAGGGGAGGTTGGC	0.547																																						ENST00000319815.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(151-153)Cct>Tct		enolase superfamily member 1							133.0	116.0	122.0					18																	683281		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:683281G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.841C>T	18.37:g.683281G>A	ENSP00000251101:p.Pro281Ser					ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.P199S|ENOSF1_ENST00000340116.7_Missense_Mutation_p.P302S|ENOSF1_ENST00000580982.1_Missense_Mutation_p.P205S|ENOSF1_ENST00000251101.7_Missense_Mutation_p.P281S	p.P51S			Q7L5Y1	ENOF1_HUMAN			3	1415	-			281					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.151C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249525	0.95305	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.69	5.69	0.88448	Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.050919	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0	D;P;D;D;D	0.79108	0.992;0.892;0.972;0.979;0.964	T	0.75088	-0.3441	10	0.87932	D	0	.	18.5735	0.91145	0.0:0.0:1.0:0.0	.	302;100;326;281;199	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	S	199;51;281;302	ENSP00000373072:P199S;ENSP00000313346:P51S;ENSP00000251101:P281S;ENSP00000345974:P302S	ENSP00000251101:P281S	P	-	1	0	ENOSF1	673281	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.298000	0.96132	2.672000	0.90937	0.650000	0.86243	CCT		0.547	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		33	49	0	0	0	1	0	33	49				
KIAA1644	85352	broad.mit.edu	37	22	44692748	44692748	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44692748G>A	ENST00000381176.4	-	3	217	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	29						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TCACAGACCCGGAAATGTGCA	0.592																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(85-87)Cgg>Tgg		KIAA1644							93.0	105.0	101.0					22																	44692748		2005	4187	6192	SO:0001583	missense	85352					integral to membrane		g.chr22:44692748G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.85C>T	22.37:g.44692748G>A	ENSP00000370568:p.Arg29Trp						p.R29W	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			3	217	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	29					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.85C>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072460	0.76415	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.14	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	L	0.32530	0.975	0.44073	D	0.996829	D	0.89917	1.0	D	0.91635	0.999	T	0.74529	-0.3635	8	0.87932	D	0	-28.1161	14.1163	0.65156	0.0:0.0:0.8495:0.1505	.	29	Q3SXP7	K1644_HUMAN	W	29	.	ENSP00000370568:R29W	R	-	1	2	KIAA1644	43024081	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.856000	0.69518	2.374000	0.81015	0.462000	0.41574	CGG		0.592	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		31	49	0	0	0	1	0	31	49				
SEC14L1	6397	broad.mit.edu	37	17	75208225	75208225	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:75208225G>C	ENST00000413679.2	+	15	2108	c.1805G>C	c.(1804-1806)gGc>gCc	p.G602A	SEC14L1_ENST00000585618.1_Missense_Mutation_p.G602A|SEC14L1_ENST00000430767.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G568A|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G602A|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G568A|SEC14L1_ENST00000443798.4_Missense_Mutation_p.G602A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	602	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGCAGCTGGGCCGCGACTAC	0.562																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1804-1806)gGc>gCc		SEC14-like 1 (S. cerevisiae)							116.0	128.0	124.0					17																	75208225		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208225G>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1805G>C	17.37:g.75208225G>C	ENSP00000394716:p.Gly602Ala					SEC14L1_ENST00000443798.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G568A|SEC14L1_ENST00000585618.1_Missense_Mutation_p.G602A|SEC14L1_ENST00000392476.2_Missense_Mutation_p.G602A|SEC14L1_ENST00000430767.4_Missense_Mutation_p.G602A|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G568A|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G602A	p.G602A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2108	+			602			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1805G>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025613	0.93518	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.19	5.19	0.71726	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.976	T	0.72431	-0.4296	10	0.87932	D	0	-46.3299	18.055	0.89362	0.0:0.0:1.0:0.0	.	602;602	Q92503-2;Q92503	.;S14L1_HUMAN	A	602;602;602;602;602;568	ENSP00000376268:G602A;ENSP00000406030:G602A;ENSP00000390392:G602A;ENSP00000408169:G602A;ENSP00000394716:G602A;ENSP00000389838:G568A	ENSP00000376268:G602A	G	+	2	0	SEC14L1	72719820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.333000	0.96459	2.570000	0.86706	0.655000	0.94253	GGC		0.562	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		30	108	0	0	0	1	0	30	108				
SCN2A	6326	broad.mit.edu	37	2	166231267	166231267	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166231267C>T	ENST00000375437.2	+	22	4335	c.4045C>T	c.(4045-4047)Cta>Tta	p.L1349L	SCN2A_ENST00000375427.2_Silent_p.L1349L|SCN2A_ENST00000283256.6_Silent_p.L1349L|SCN2A_ENST00000357398.3_Silent_p.L1349L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1349					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTTTGGCTAATATTCAG	0.383																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4045-4047)Cta>Tta		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						165.0	156.0	159.0					2																	166231267		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231267C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4045C>T	2.37:g.166231267C>T						SCN2A_ENST00000375427.2_Silent_p.L1349L|SCN2A_ENST00000283256.6_Silent_p.L1349L|SCN2A_ENST00000375437.2_Silent_p.L1349L	p.L1349L			Q99250	SCN2A_HUMAN			22	4335	+			1349					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4045C>T	CCDS33314.1																																																																																				0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		34	34	0	0	0	1	0	34	34				
CGGBP1	8545	broad.mit.edu	37	3	88104943	88104943	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:88104943G>A	ENST00000398392.2	-	1	1516	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	CGGBP1_ENST00000482016.1_Missense_Mutation_p.L62F|CGGBP1_ENST00000309534.6_Missense_Mutation_p.L62F|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000462901.1_Missense_Mutation_p.L62F			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TTTGACTTGAGGTGGTCACTA	0.458																																						ENST00000398392.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(184-186)Ctc>Ttc		CGG triplet repeat binding protein 1							94.0	93.0	93.0					3																	88104943		1964	4146	6110	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104943G>A	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.184C>T	3.37:g.88104943G>A	ENSP00000381429:p.Leu62Phe					CGGBP1_ENST00000309534.6_Missense_Mutation_p.L62F|CGGBP1_ENST00000482016.1_Missense_Mutation_p.L62F|CGGBP1_ENST00000462901.1_Missense_Mutation_p.L62F	p.L62F			Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	1	1516	-		Lung NSC(201;0.0283)	62					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.184C>T	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835659	0.71373	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.84	5.84	0.93424	.	0.000000	0.35407	U	0.003233	T	0.66674	0.2813	L	0.32530	0.975	0.44816	D	0.997828	D	0.62365	0.991	D	0.65323	0.934	T	0.68435	-0.5409	9	0.87932	D	0	-12.7599	17.366	0.87364	0.0:0.0:1.0:0.0	.	62	Q9UFW8	CGBP1_HUMAN	F	62	.	ENSP00000381428:L62F	L	-	1	0	CGGBP1	88187633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.328000	0.72915	2.778000	0.95560	0.558000	0.71614	CTC		0.458	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		28	56	0	0	0	1	0	28	56				
REV3L	5980	broad.mit.edu	37	6	111726774	111726774	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111726774G>A	ENST00000358835.3	-	5	918	c.464C>T	c.(463-465)gCg>gTg	p.A155V	REV3L_ENST00000368802.3_Missense_Mutation_p.A155V|REV3L_ENST00000368805.1_Missense_Mutation_p.A155V|REV3L_ENST00000435970.1_Missense_Mutation_p.A77V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	155					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGGAATATGCGCTTCATGAGG	0.343								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(229-231)gCg>gTg	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							135.0	143.0	140.0					6																	111726774		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726774G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.464C>T	6.37:g.111726774G>A	ENSP00000351697:p.Ala155Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A155V|REV3L_ENST00000368805.1_Missense_Mutation_p.A155V|REV3L_ENST00000368802.3_Missense_Mutation_p.A155V	p.A77V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	6	1046	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	155					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.230C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	31	5.081167	0.94050	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.49432	4.66;4.66;4.66;0.78	5.47	5.47	0.80525	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.048903	0.85682	D	0.000000	T	0.67411	0.2890	M	0.80183	2.485	0.45762	D	0.998653	D	0.89917	1.0	D	0.76071	0.987	T	0.71500	-0.4574	10	0.72032	D	0.01	-24.6454	19.3184	0.94226	0.0:0.0:1.0:0.0	.	155	O60673	DPOLZ_HUMAN	V	155;155;155;77	ENSP00000357792:A155V;ENSP00000357795:A155V;ENSP00000351697:A155V;ENSP00000402003:A77V	ENSP00000351697:A155V	A	-	2	0	REV3L	111833467	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.515000	0.81761	2.571000	0.86741	0.585000	0.79938	GCG		0.343	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		41	60	0	0	0	1	0	41	60				
BAZ1B	9031	broad.mit.edu	37	7	72903642	72903642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72903642C>T	ENST00000339594.4	-	6	1111	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R258Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	258	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCATTATGCCGTATAAAGTA	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(772-774)cGg>cAg		bromodomain adjacent to zinc finger domain, 1B							165.0	147.0	153.0					7																	72903642		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72903642C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.773G>A	7.37:g.72903642C>T	ENSP00000342434:p.Arg258Gln					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R258Q	p.R258Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			6	1111	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	258			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.773G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	36	5.974527	0.97162	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.74209	-0.82;-0.82	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.82752	-0.0302	10	0.72032	D	0.01	-17.8904	19.2257	0.93817	0.0:1.0:0.0:0.0	.	258	Q9UIG0	BAZ1B_HUMAN	Q	258	ENSP00000342434:R258Q;ENSP00000385442:R258Q	ENSP00000342434:R258Q	R	-	2	0	BAZ1B	72541578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.231000	0.78106	2.790000	0.95986	0.655000	0.94253	CGG		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		29	58	0	0	0	1	0	29	58				
GALNS	2588	broad.mit.edu	37	16	88902227	88902227	+	Missense_Mutation	SNP	G	G	A	rs146963745		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88902227G>A	ENST00000268695.5	-	7	752	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	GALNS_ENST00000542788.1_Missense_Mutation_p.R147W	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	222	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGGTGGTGCCGTGCCTGTCTC	0.627																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(664-666)Cgg>Tgg		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)	T	TRP/ARG	0,4396		0,0,2198	142.0	114.0	123.0		664	-7.6	0.0	16	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNS	NM_000512.4	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/523	88902227	1,12995	2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88902227G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.664C>T	16.37:g.88902227G>A	ENSP00000268695:p.Arg222Trp					GALNS_ENST00000542788.1_Missense_Mutation_p.R147W	p.R222W	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	7	752	-			222					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.664C>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.254677	0.39896	0.0	1.16E-4	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94046	-3.34;-3.34	5.05	-7.64	0.01286	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.869924	0.10167	N	0.707589	D	0.92743	0.7693	M	0.82193	2.58	0.09310	N	1	D;D	0.65815	0.966;0.995	P;P	0.53185	0.72;0.72	D	0.85919	0.1445	10	0.87932	D	0	.	3.5168	0.07727	0.0797:0.265:0.2145:0.4408	.	222;222	B2R6P1;P34059	.;GALNS_HUMAN	W	222;147	ENSP00000268695:R222W;ENSP00000438197:R147W	ENSP00000268695:R222W	R	-	1	2	GALNS	87429728	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.267000	0.18552	-1.342000	0.02222	-1.724000	0.00704	CGG		0.627	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			8	31	0	0	0	1	0	8	31				
NUP210	23225	broad.mit.edu	37	3	13381471	13381471	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13381471G>A	ENST00000254508.5	-	25	3436	c.3354C>T	c.(3352-3354)agC>agT	p.S1118S	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1118					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGCGCAACGCTCTCATTGC	0.652																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3352-3354)agC>agT		nucleoporin 210kDa							111.0	118.0	115.0					3																	13381471		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13381471G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3354C>T	3.37:g.13381471G>A						NUP210_ENST00000485755.1_5'UTR	p.S1118S	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			25	3436	-	all_neural(104;0.187)		1118					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3354C>T	CCDS33704.1																																																																																				0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		39	47	0	0	0	1	0	39	47				
NIPAL3	57185	broad.mit.edu	37	1	24768584	24768584	+	Missense_Mutation	SNP	C	C	T	rs371884984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24768584C>T	ENST00000374399.4	+	4	570	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	NIPAL3_ENST00000339255.2_Missense_Mutation_p.R68W|NIPAL3_ENST00000358028.4_Missense_Mutation_p.R68W|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.R68W	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	68						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CAAGGATCCCCGGGCCTATTT	0.537																																						ENST00000358028.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(202-204)Cgg>Tgg		NIPA-like domain containing 3		C	TRP/ARG	0,4406		0,0,2203	98.0	92.0	94.0		202	5.2	1.0	1		94	1,8599		0,1,4299	no	missense	NIPAL3	NM_020448.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/407	24768584	1,13005	2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24768584C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.202C>T	1.37:g.24768584C>T	ENSP00000363520:p.Arg68Trp					NIPAL3_ENST00000374399.4_Missense_Mutation_p.R68W|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000339255.2_Missense_Mutation_p.R68W|NIPAL3_ENST00000428131.1_Missense_Mutation_p.R68W	p.R68W			Q6P499	NPAL3_HUMAN			4	551	+			68					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.202C>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682110	0.88542	0.0	1.16E-4	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.95119	0.8245	10	0.45353	T	0.12	-24.6994	19.1495	0.93482	0.0:1.0:0.0:0.0	.	68;68;68	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	W	68	ENSP00000363520:R68W;ENSP00000350722:R68W;ENSP00000343549:R68W;ENSP00000406509:R68W	ENSP00000343549:R68W	R	+	1	2	NIPAL3	24641171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.128000	0.64733	2.579000	0.87056	0.655000	0.94253	CGG		0.537	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		22	20	0	0	0	1	0	22	20				
ITPR1	3708	broad.mit.edu	37	3	4709136	4709136	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4709136G>A	ENST00000443694.2	+	15	1744	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	ITPR1_ENST00000456211.2_Missense_Mutation_p.A582T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A597T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A597T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A597T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A582T|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	597					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CACTATCACTGCCCTGCTCCA	0.473																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(1744-1746)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 1							66.0	61.0	63.0					3																	4709136		1941	4171	6112	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4709136G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1744G>A	3.37:g.4709136G>A	ENSP00000401671:p.Ala582Thr					ITPR1_ENST00000443694.2_Missense_Mutation_p.A582T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A582T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A597T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A597T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A597T|ITPR1_ENST00000544951.1_Intron	p.A582T	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	17	2094	+			597					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1744G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232632	0.95207	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.74	4.74	0.60224	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.91196	3.185	0.80722	D	1	D;D;D	0.67145	0.966;0.996;0.996	D;D;D	0.72625	0.926;0.978;0.978	D	0.98713	1.0705	10	0.46703	T	0.11	.	17.946	0.89038	0.0:0.0:1.0:0.0	.	582;597;597	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	T	597;582;597;597;597;582;582	ENSP00000306253:A582T;ENSP00000346595:A597T;ENSP00000405934:A597T;ENSP00000349597:A597T;ENSP00000397885:A582T;ENSP00000401671:A582T	ENSP00000306253:A582T	A	+	1	0	ITPR1	4684136	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	9.560000	0.98139	2.462000	0.83206	0.555000	0.69702	GCC		0.473	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		13	16	0	0	0	1	0	13	16				
AGRN	375790	broad.mit.edu	37	1	981376	981376	+	Missense_Mutation	SNP	C	C	T	rs199593375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:981376C>T	ENST00000379370.2	+	16	2763	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	905					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCGGAGATGCGCTGTGAGTT	0.667																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2713-2715)Cgc>Tgc		agrin		C	CYS/ARG	0,4406		0,0,2203	109.0	108.0	109.0		2713	4.5	0.5	1		109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AGRN	NM_198576.3	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	905/2046	981376	4,13002	2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981376C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2713C>T	1.37:g.981376C>T	ENSP00000368678:p.Arg905Cys						p.R905C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	16	2763	+	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;8.75e-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)|Lung SC(97;0.128)	905					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.2713C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840968	0.32513	0.0	4.65E-4	ENSG00000188157	ENST00000379370	T	0.75477	-0.94	5.46	4.48	0.54585	Follistatin-like, N-terminal (1);	1.580420	0.03998	N	0.296062	T	0.76997	0.4066	M	0.62088	1.915	0.19300	N	0.999976	P	0.46395	0.877	P	0.46339	0.513	T	0.63296	-0.6669	10	0.52906	T	0.07	-6.1372	7.4064	0.26993	0.2845:0.5836:0.1319:0.0	.	905	O00468	AGRIN_HUMAN	C	905	ENSP00000368678:R905C	ENSP00000368678:R905C	R	+	1	0	AGRN	971239	0.070000	0.21116	0.511000	0.27724	0.022000	0.10575	0.326000	0.19646	2.548000	0.85928	0.655000	0.94253	CGC		0.667	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		8	28	0	0	0	1	0	8	28				
CDC37	11140	broad.mit.edu	37	19	10506866	10506866	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10506866C>T	ENST00000222005.2	-	2	169	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	39					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCTCCATGCGTTCCACCCG	0.647																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(115-117)cGc>cAc		cell division cycle 37							45.0	48.0	47.0					19																	10506866		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506866C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.116G>A	19.37:g.10506866C>T	ENSP00000222005:p.Arg39His						p.R39H	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	169	-			39					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.116G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714165	0.89112	.	.	ENSG00000105401	ENST00000222005	T	0.63255	-0.03	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61328	0.887;0.887	T	0.80870	-0.1189	10	0.87932	D	0	.	14.3942	0.67001	0.0:1.0:0.0:0.0	.	39;39	Q6FG59;Q16543	.;CDC37_HUMAN	H	39	ENSP00000222005:R39H	ENSP00000222005:R39H	R	-	2	0	CDC37	10367866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.268000	0.78473	2.058000	0.61347	0.555000	0.69702	CGC		0.647	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		23	42	0	0	0	1	0	23	42				
AKAP1	8165	broad.mit.edu	37	17	55191836	55191836	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:55191836G>A	ENST00000337714.3	+	6	2353	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	AKAP1_ENST00000539273.1_Missense_Mutation_p.G707D|AKAP1_ENST00000571629.1_Missense_Mutation_p.G707D|AKAP1_ENST00000572557.1_Missense_Mutation_p.G707D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	707					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCCTGATGGCATCACCGTG	0.567											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2119-2121)gGc>gAc		A kinase (PRKA) anchor protein 1							124.0	102.0	109.0					17																	55191836		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55191836G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2120G>A	17.37:g.55191836G>A	ENSP00000337736:p.Gly707Asp		OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1006	AKAP1_ENST00000572557.1_Missense_Mutation_p.G707D|AKAP1_ENST00000571629.1_Missense_Mutation_p.G707D|AKAP1_ENST00000539273.1_Missense_Mutation_p.G707D	p.G707D	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			6	2353	+	Breast(9;5.46e-08)		707					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2120G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569482	0.86439	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.09255	3.0;3.0	5.9	5.9	0.94986	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.39245	1.2	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.00070	-1.2134	10	0.52906	T	0.07	-26.7366	19.2703	0.94006	0.0:0.0:1.0:0.0	.	707	Q92667	AKAP1_HUMAN	D	707;749;707	ENSP00000337736:G707D;ENSP00000443139:G707D	ENSP00000337736:G707D	G	+	2	0	AKAP1	52546835	1.000000	0.71417	0.932000	0.37286	0.832000	0.47134	9.136000	0.94489	2.806000	0.96561	0.655000	0.94253	GGC		0.567	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			14	23	0	0	0	1	0	14	23				
MTMR14	64419	broad.mit.edu	37	3	9739506	9739506	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9739506C>A	ENST00000296003.4	+	18	1847	c.1725C>A	c.(1723-1725)tcC>tcA	p.S575S	MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	575					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACACAGACTCCTCTCTCCCTT	0.572																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1723-1725)tcC>tcA		myotubularin related protein 14							229.0	238.0	235.0					3																	9739506		2060	4201	6261	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9739506C>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1725C>A	3.37:g.9739506C>A						MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Intron	p.S575S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			18	1847	+	Medulloblastoma(99;0.227)		575					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.1725C>A	CCDS43043.1																																																																																				0.572	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		103	135	1	0	2.41565e-62	1	2.71757e-62	103	135				
CUL9	23113	broad.mit.edu	37	6	43160785	43160785	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43160785G>A	ENST00000252050.4	+	9	2311	c.2227G>A	c.(2227-2229)Gga>Aga	p.G743R	CUL9_ENST00000354495.3_Missense_Mutation_p.G633R|CUL9_ENST00000372647.2_Missense_Mutation_p.G743R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	743					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAACCAGGTGGGAGAGAAGAT	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2227-2229)Gga>Aga		cullin 9							146.0	115.0	125.0					6																	43160785		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43160785G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2227G>A	6.37:g.43160785G>A	ENSP00000252050:p.Gly743Arg					CUL9_ENST00000372647.2_Missense_Mutation_p.G743R|CUL9_ENST00000354495.3_Missense_Mutation_p.G633R	p.G743R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			9	2311	+			743					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2227G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391654	0.42410	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.37411	1.2;1.2;1.2	4.99	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.360695	0.28544	N	0.014967	T	0.08447	0.0210	N	0.24115	0.695	0.36768	D	0.883622	B;B	0.19583	0.037;0.037	B;B	0.12837	0.008;0.008	T	0.13361	-1.0512	10	0.13108	T	0.6	-5.91	8.0955	0.30826	0.305:0.0:0.695:0.0	.	743;743	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	R	743;633;743	ENSP00000252050:G743R;ENSP00000346490:G633R;ENSP00000361730:G743R	ENSP00000252050:G743R	G	+	1	0	CUL9	43268763	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.543000	0.45752	1.098000	0.41479	0.297000	0.19635	GGA		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		28	88	0	0	0	1	0	28	88				
TDRD10	126668	broad.mit.edu	37	1	154492814	154492814	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154492814C>A	ENST00000368480.3	+	5	261	c.176C>A	c.(175-177)cCt>cAt	p.P59H	TDRD10_ENST00000368482.4_Missense_Mutation_p.P59H			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	59	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACTTCAACCCTCTTGATGTC	0.423																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(175-177)cCt>cAt		tudor domain containing 10							157.0	151.0	153.0					1																	154492814		1928	4143	6071	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154492814C>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.176C>A	1.37:g.154492814C>A	ENSP00000357465:p.Pro59His					TDRD10_ENST00000368480.3_Missense_Mutation_p.P59H	p.P59H	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1014	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		59			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.176C>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	c	19.25	3.791789	0.70452	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.75260	-0.92;-0.92	4.0	4.0	0.46444	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.79557	0.4466	M	0.72894	2.215	0.22081	N	0.999371	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69232	-0.5199	9	0.66056	D	0.02	.	11.7743	0.51977	0.0:1.0:0.0:0.0	.	59;59	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	H	59	ENSP00000357467:P59H;ENSP00000357465:P59H	ENSP00000357465:P59H	P	+	2	0	TDRD10	152759438	0.618000	0.27051	0.909000	0.35828	0.462000	0.32619	2.830000	0.48136	2.209000	0.71365	0.558000	0.71614	CCT		0.423	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		11	58	1	0	2.68362e-12	1	2.90084e-12	11	58				
ACTN4	81	broad.mit.edu	37	19	39220008	39220008	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39220008C>T	ENST00000252699.2	+	21	2748	c.2672C>T	c.(2671-2673)gCc>gTc	p.A891V	ACTN4_ENST00000424234.2_Missense_Mutation_p.A501V|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.A672V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	891	Mediates interaction with MICALL2. {ECO:0000250}.			AVP -> GVR (in Ref. 3; AAC17470). {ECO:0000305}.	actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCTGACGCCGTGCCCGGT	0.667																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2671-2673)gCc>gTc		actinin, alpha 4							38.0	40.0	39.0					19																	39220008		2202	4299	6501	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39220008C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2672C>T	19.37:g.39220008C>T	ENSP00000252699:p.Ala891Val					ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.A672V|ACTN4_ENST00000424234.2_Missense_Mutation_p.A501V	p.A891V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	2748	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		891	AVP -> GVR (in Ref. 3; AAC17470).				A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2672C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767730	0.31320	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.63417	0.88;-0.04;-0.04;-0.04	3.48	3.48	0.39840	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.074160	0.52532	D	0.000068	T	0.59998	0.2235	M	0.63843	1.955	0.52099	D	0.999945	B	0.02656	0.0	B	0.18263	0.021	T	0.64732	-0.6338	10	0.66056	D	0.02	.	14.2674	0.66129	0.0:1.0:0.0:0.0	.	891	O43707	ACTN4_HUMAN	V	891;501;672;322	ENSP00000252699:A891V;ENSP00000411187:A501V;ENSP00000439497:A672V;ENSP00000398393:A322V	ENSP00000252699:A891V	A	+	2	0	ACTN4	43911848	0.998000	0.40836	0.041000	0.18516	0.020000	0.10135	3.657000	0.54474	1.959000	0.56917	0.455000	0.32223	GCC		0.667	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			11	17	0	0	0	1	0	11	17				
LRP1	4035	broad.mit.edu	37	12	57603498	57603498	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57603498G>A	ENST00000243077.3	+	80	12752	c.12286G>A	c.(12286-12288)Gac>Aac	p.D4096N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4096					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCAGCATCGACGTCTTTGA	0.562																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12286-12288)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						116.0	100.0	105.0					12																	57603498		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57603498G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12286G>A	12.37:g.57603498G>A	ENSP00000243077:p.Asp4096Asn						p.D4096N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	80	12752	+			4096					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12286G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624511	0.87560	.	.	ENSG00000123384	ENST00000243077	D	0.91124	-2.79	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.95411	0.8510	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94903	0.8058	10	0.40728	T	0.16	.	16.3785	0.83418	0.0:0.0:1.0:0.0	.	4096	Q07954	LRP1_HUMAN	N	4096	ENSP00000243077:D4096N	ENSP00000243077:D4096N	D	+	1	0	LRP1	55889765	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.408000	0.80041	2.486000	0.83907	0.557000	0.71058	GAC		0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	12	0	0	0	1	0	9	12				
MRPL23	6150	broad.mit.edu	37	11	1973409	1973409	+	Missense_Mutation	SNP	G	G	A	rs368383014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1973409G>A	ENST00000397298.3	+	3	278	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	MRPL23_ENST00000381514.3_Missense_Mutation_p.V65M|MRPL23_ENST00000381519.1_Missense_Mutation_p.V65M|MRPL23_ENST00000397297.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397294.3_Missense_Mutation_p.V65M	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	65					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TAACGTGCCCGTGGCTGCTGT	0.582																																						ENST00000381514.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(193-195)Gtg>Atg		mitochondrial ribosomal protein L23		G	MET/VAL	0,4402		0,0,2201	68.0	59.0	62.0		193	2.9	0.8	11		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	MRPL23	NM_021134.3	21	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	65/154	1973409	1,12999	2201	4299	6500	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1973409G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.193G>A	11.37:g.1973409G>A	ENSP00000380466:p.Val65Met					MRPL23_ENST00000397294.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397297.3_Missense_Mutation_p.V65M|MRPL23_ENST00000397298.3_Missense_Mutation_p.V65M|MRPL23_ENST00000381519.1_Missense_Mutation_p.V65M	p.V65M			Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	215	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	65					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.193G>A	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432507	0.43224	0.0	1.16E-4	ENSG00000214026	ENST00000397298;ENST00000381519;ENST00000397297;ENST00000381514;ENST00000397294	T;T;T;T;T	0.59083	1.15;1.15;0.29;1.15;0.29	3.87	2.94	0.34122	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000001	T	0.81508	0.4837	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86264	0.1657	10	0.72032	D	0.01	.	13.0404	0.58895	0.0:0.0:0.8374:0.1626	.	65	Q16540	RM23_HUMAN	M	65	ENSP00000380466:V65M;ENSP00000370930:V65M;ENSP00000380465:V65M;ENSP00000370925:V65M;ENSP00000380462:V65M	ENSP00000370925:V65M	V	+	1	0	MRPL23	1929985	1.000000	0.71417	0.833000	0.33012	0.035000	0.12851	7.321000	0.79088	0.967000	0.38186	0.491000	0.48974	GTG		0.582	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		9	14	0	0	0	1	0	9	14				
PARK2	5071	broad.mit.edu	37	6	162622177	162622177	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162622177G>A	ENST00000366898.1	-	4	622	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	PARK2_ENST00000366892.1_Missense_Mutation_p.L174F|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.L174F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	174					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAAGGTGAGCGTTGCCTGC	0.463																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(520-522)Ctc>Ttc		parkin RBR E3 ubiquitin protein ligase							116.0	103.0	107.0					6																	162622177		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622177G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.520C>T	6.37:g.162622177G>A	ENSP00000355865:p.Leu174Phe					PARK2_ENST00000366892.1_Missense_Mutation_p.L174F|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.L174F|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_5'UTR	p.L174F	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	622	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	174					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.520C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.674063	0.14841	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	D;D;D	0.92048	-2.88;-2.96;-2.92	5.72	5.72	0.89469	.	0.081366	0.50627	D	0.000108	D	0.90728	0.7090	L	0.41906	1.305	0.23930	N	0.99644	D;B;B	0.89917	1.0;0.357;0.357	D;B;B	0.91635	0.999;0.261;0.169	T	0.83170	-0.0094	10	0.14656	T	0.56	.	15.3813	0.74658	0.0:0.0:1.0:0.0	.	174;174;174	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	F	174;174;174;95	ENSP00000355865:L174F;ENSP00000355863:L174F;ENSP00000355858:L174F	ENSP00000355858:L174F	L	-	1	0	PARK2	162542167	0.998000	0.40836	0.030000	0.17652	0.519000	0.34347	3.395000	0.52558	2.688000	0.91661	0.643000	0.83706	CTC		0.463	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			25	31	0	0	0	1	0	25	31				
DNAH7	56171	broad.mit.edu	37	2	196865487	196865487	+	Missense_Mutation	SNP	C	C	T	rs565395707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196865487C>T	ENST00000312428.6	-	12	1394	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	DNAH7_ENST00000410072.1_Missense_Mutation_p.V432I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	432	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAATCATGACGTCATAAACA	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		18639	0.0		0.001	False		,,,				2504	0.0					ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1294-1296)Gtc>Atc		dynein, axonemal, heavy chain 7							165.0	167.0	166.0					2																	196865487		1838	4082	5920	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196865487C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1294G>A	2.37:g.196865487C>T	ENSP00000311273:p.Val432Ile					DNAH7_ENST00000410072.1_Missense_Mutation_p.V432I	p.V432I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			12	1394	-			432			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1294G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412545	0.25465	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.21543	2.0;2.9	5.72	0.501	0.16925	.	0.665837	0.11293	N	0.578982	T	0.11750	0.0286	N	0.13098	0.295	0.20074	N	0.999939	B	0.10296	0.003	B	0.04013	0.001	T	0.30357	-0.9981	10	0.35671	T	0.21	.	9.1008	0.36667	0.0:0.5137:0.0:0.4863	.	432	Q8WXX0	DYH7_HUMAN	I	432	ENSP00000311273:V432I;ENSP00000386260:V432I	ENSP00000311273:V432I	V	-	1	0	DNAH7	196573732	0.001000	0.12720	0.925000	0.36789	0.945000	0.59286	-0.131000	0.10482	0.014000	0.14944	0.637000	0.83480	GTC		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	202	0	0	0	1	0	5	202				
GBX1	2636	broad.mit.edu	37	7	150845879	150845879	+	Missense_Mutation	SNP	C	C	T	rs200609477		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150845879C>T	ENST00000297537.4	-	2	888	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	297					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTGAGGGCGTGGGCGATC	0.537																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(889-891)Gcc>Acc		gastrulation brain homeobox 1							72.0	77.0	75.0					7																	150845879		2178	4286	6464	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845879C>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.889G>A	7.37:g.150845879C>T	ENSP00000297537:p.Ala297Thr						p.A297T	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	888	-			297						Missense_Mutation	SNP	ENST00000297537.4	37	c.889G>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634851	0.87760	.	.	ENSG00000164900	ENST00000297537	D	0.96168	-3.93	4.92	4.92	0.64577	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.059022	0.64402	D	0.000002	D	0.93291	0.7862	L	0.28776	0.89	0.80722	D	1	P	0.47191	0.891	P	0.48030	0.564	D	0.92155	0.5731	10	0.28530	T	0.3	-22.6198	16.8607	0.86017	0.0:1.0:0.0:0.0	.	297	Q14549	GBX1_HUMAN	T	297	ENSP00000297537:A297T	ENSP00000297537:A297T	A	-	1	0	GBX1	150476812	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.817000	0.62650	2.580000	0.87095	0.655000	0.94253	GCC		0.537	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			16	43	0	0	0	1	0	16	43				
PITPNM1	9600	broad.mit.edu	37	11	67270021	67270021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67270021G>A	ENST00000534749.1	-	2	435	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	PITPNM1_ENST00000436757.2_Nonsense_Mutation_p.Q83*|PITPNM1_ENST00000356404.3_Nonsense_Mutation_p.Q83*			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	83					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTTCTACCTGCAGGGCAGCC	0.667																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(247-249)Cag>Tag		phosphatidylinositol transfer protein, membrane-associated 1							75.0	69.0	71.0					11																	67270021		2200	4295	6495	SO:0001587	stop_gained	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67270021G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.247C>T	11.37:g.67270021G>A	ENSP00000437286:p.Gln83*					PITPNM1_ENST00000436757.2_Nonsense_Mutation_p.Q83*|PITPNM1_ENST00000534749.1_Nonsense_Mutation_p.Q83*	p.Q83*	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			3	472	-			83					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Nonsense_Mutation	SNP	ENST00000534749.1	37	c.247C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552504	0.96501	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559;ENST00000524901	.	.	.	4.17	4.17	0.49024	.	0.370454	0.19916	N	0.103199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-22.0813	15.5871	0.76491	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000348772:Q83X	Q	-	1	0	PITPNM1	67026597	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.524000	0.53495	2.313000	0.78055	0.561000	0.74099	CAG		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		19	23	0	0	0	1	0	19	23				
MYLK3	91807	broad.mit.edu	37	16	46771921	46771921	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:46771921C>T	ENST00000394809.4	-	3	818	c.703G>A	c.(703-705)Gca>Aca	p.A235T	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	235					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCAGGGAATGCCTGGGCTGGG	0.672																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(703-705)Gca>Aca		myosin light chain kinase 3							34.0	31.0	32.0					16																	46771921		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771921C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.703G>A	16.37:g.46771921C>T	ENSP00000378288:p.Ala235Thr					MYLK3_ENST00000536476.1_Intron	p.A235T	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			3	818	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	235					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.703G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680908	0.03353	.	.	ENSG00000140795	ENST00000394809	T	0.68025	-0.3	5.0	1.61	0.23674	.	2.358630	0.02563	N	0.096985	T	0.45796	0.1360	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.30909	-0.9962	10	0.10377	T	0.69	.	4.0213	0.09667	0.0:0.5067:0.2657:0.2277	.	235	Q32MK0	MYLK3_HUMAN	T	235	ENSP00000378288:A235T	ENSP00000378288:A235T	A	-	1	0	MYLK3	45329422	0.000000	0.05858	0.041000	0.18516	0.007000	0.05969	-0.051000	0.11885	0.599000	0.29845	-0.140000	0.14226	GCA		0.672	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		10	15	0	0	0	1	0	10	15				
ZNF560	147741	broad.mit.edu	37	19	9583864	9583864	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9583864C>A	ENST00000301480.4	-	5	442	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	77	KRAB 1. {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)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCTTGGAGAACTCCTTGCTGC	0.388																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(229-231)Gtt>Ttt		zinc finger protein 560							196.0	196.0	196.0					19																	9583864		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583864C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.229G>T	19.37:g.9583864C>A	ENSP00000301480:p.Val77Phe						p.V77F	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			5	442	-			77			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.229G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	6.195	0.404199	0.11754	.	.	ENSG00000198028	ENST00000301480	T	0.05996	3.36	2.85	0.58	0.17402	Krueppel-associated box (1);	.	.	.	.	T	0.04998	0.0134	L	0.42686	1.345	0.09310	N	1	B	0.28636	0.218	B	0.22152	0.038	T	0.40117	-0.9580	9	0.33141	T	0.24	.	3.6873	0.08332	0.0:0.5824:0.2558:0.1618	.	77	Q96MR9	ZN560_HUMAN	F	77	ENSP00000301480:V77F	ENSP00000301480:V77F	V	-	1	0	ZNF560	9444864	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.381000	0.07417	0.214000	0.20742	-0.257000	0.10917	GTT		0.388	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		63	105	1	0	3.33906e-19	1	3.69312e-19	63	105				
ZNF768	79724	broad.mit.edu	37	16	30536159	30536159	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30536159G>A	ENST00000380412.5	-	2	1477	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF768_ENST00000562803.1_Silent_p.C403C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	434					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCGCTTGCCGCACTCAGGGC	0.672																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1300-1302)tgC>tgT		zinc finger protein 768							24.0	25.0	25.0					16																	30536159		2197	4299	6496	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536159G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1302C>T	16.37:g.30536159G>A						ZNF768_ENST00000562803.1_Silent_p.C403C	p.C434C	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	1477	-			434					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.1302C>T	CCDS10681.2																																																																																				0.672	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		7	9	0	0	0	1	0	7	9				
ZFX	7543	broad.mit.edu	37	X	24229488	24229488	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:24229488C>T	ENST00000379177.1	+	11	2840	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	ZFX_ENST00000379188.3_Missense_Mutation_p.P805S|ZFX_ENST00000304543.5_Missense_Mutation_p.P805S|ZFX_ENST00000539115.1_Missense_Mutation_p.P576S|ZFX_ENST00000540034.1_Missense_Mutation_p.P844S|ZFX_ENST00000338565.3_Missense_Mutation_p.P755S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	805					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTTGGCCTGCCCTAACAATA	0.398																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2413-2415)Ccc>Tcc		zinc finger protein, X-linked							39.0	33.0	35.0					X																	24229488		2202	4296	6498	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229488C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2413C>T	X.37:g.24229488C>T	ENSP00000368475:p.Pro805Ser					ZFX_ENST00000379188.3_Missense_Mutation_p.P805S|ZFX_ENST00000539115.1_Missense_Mutation_p.P576S|ZFX_ENST00000338565.3_Missense_Mutation_p.P755S|ZFX_ENST00000540034.1_Missense_Mutation_p.P844S|ZFX_ENST00000304543.5_Missense_Mutation_p.P805S	p.P805S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2840	+			805					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.2413C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481449	0.44147	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.12569	2.83;2.71;2.71;2.71;2.67;2.96	5.41	4.55	0.56014	.	0.182130	0.39146	N	0.001458	T	0.18841	0.0452	N	0.16130	0.375	0.28912	N	0.892623	D;D;D	0.89917	0.998;1.0;0.997	D;D;D	0.83275	0.99;0.996;0.986	T	0.03086	-1.1074	10	0.87932	D	0	-7.1618	8.5661	0.33540	0.1513:0.77:0.0:0.0786	.	844;527;805	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	S	576;805;527;805;805;844;755	ENSP00000438233:P576S;ENSP00000368486:P805S;ENSP00000368475:P805S;ENSP00000304985:P805S;ENSP00000441382:P844S;ENSP00000343384:P755S	ENSP00000304985:P805S	P	+	1	0	ZFX	24139409	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.710000	0.37920	1.184000	0.42957	0.594000	0.82650	CCC		0.398	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		19	3	0	0	0	1	0	19	3				
EFNB2	1948	broad.mit.edu	37	13	107145456	107145456	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:107145456C>T	ENST00000245323.4	-	5	1083	c.934G>A	c.(934-936)Ggg>Agg	p.G312R		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	312					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACCGGGTGCCCGTAGTCGCCG	0.597																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(934-936)Ggg>Agg		ephrin-B2							84.0	70.0	75.0					13																	107145456		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145456C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.934G>A	13.37:g.107145456C>T	ENSP00000245323:p.Gly312Arg						p.G312R	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			5	1083	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		312					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.934G>A	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497064	0.96355	.	.	ENSG00000125266	ENST00000245323	D	0.95069	-3.6	5.81	5.81	0.92471	.	0.045275	0.85682	D	0.000000	D	0.97145	0.9067	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97249	0.9896	10	0.87932	D	0	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	312	P52799	EFNB2_HUMAN	R	312	ENSP00000245323:G312R	ENSP00000245323:G312R	G	-	1	0	EFNB2	105943457	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.755000	0.85180	2.746000	0.94184	0.655000	0.94253	GGG		0.597	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		18	19	0	0	0	1	0	18	19				
IL21	59067	broad.mit.edu	37	4	123534004	123534004	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123534004A>G	ENST00000264497.3	-	4	496		c.e4+1			NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21						cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TAAGGTAGATACCTTTTGGAG	0.333																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.e4+1		interleukin 21							100.0	106.0	104.0					4																	123534004		2203	4300	6503	SO:0001630	splice_region_variant	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123534004A>G	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.438+1T>C	4.37:g.123534004A>G								NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			4	496	-								A5J0L4	Splice_Site	SNP	ENST00000264497.3	37		CCDS3727.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379126	0.61735	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7603	0.51898	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL21	123753454	1.000000	0.71417	0.983000	0.44433	0.887000	0.51463	4.581000	0.60949	1.797000	0.52628	0.383000	0.25322	.		0.333	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803	Intron	7	26	0	0	0	1	0	7	26				
SLC29A3	55315	broad.mit.edu	37	10	73103989	73103989	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73103989C>T	ENST00000373189.5	+	3	376	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	108					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTACCTTGCCGTTGCCTCCA	0.592																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(322-324)gcC>gcT		solute carrier family 29 (equilibrative nucleoside transporter), member 3							263.0	174.0	204.0					10																	73103989		2203	4300	6503	SO:0001819	synonymous_variant	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73103989C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.324C>T	10.37:g.73103989C>T							p.A108A	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			3	376	+			108					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	c.324C>T	CCDS7310.1																																																																																				0.592	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		4	73	0	0	0	1	0	4	73				
OR2S2	56656	broad.mit.edu	37	9	35957181	35957181	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35957181C>A	ENST00000341959.2	-	1	970	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	305					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TCACAGCAGCCTTCACATCCT	0.493																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(913-915)aaG>aaT		olfactory receptor, family 2, subfamily S, member 2							92.0	87.0	89.0					9																	35957181		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957181C>A	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.915G>T	9.37:g.35957181C>A	ENSP00000344040:p.Lys305Asn						p.K305N	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	970	-			305					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.915G>T	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	5.803	0.332540	0.10956	.	.	ENSG00000122718	ENST00000341959	T	0.40756	1.02	4.14	1.21	0.21127	.	0.000000	0.51477	D	0.000088	T	0.35941	0.0949	M	0.71920	2.185	0.18873	N	0.999988	B	0.30889	0.299	B	0.31337	0.128	T	0.35919	-0.9769	10	0.66056	D	0.02	.	3.3677	0.07210	0.181:0.527:0.0:0.292	.	305	Q9NQN1	OR2S1_HUMAN	N	305	ENSP00000344040:K305N	ENSP00000344040:K305N	K	-	3	2	OR2S2	35947181	0.000000	0.05858	0.218000	0.23776	0.168000	0.22595	-0.247000	0.08866	0.274000	0.22072	-0.187000	0.12897	AAG		0.493	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		35	46	1	0	4.46736e-08	1	4.70435e-08	35	46				
NCL	4691	broad.mit.edu	37	2	232321455	232321455	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232321455G>A	ENST00000322723.4	-	11	1832	c.1592C>T	c.(1591-1593)gCt>gTt	p.A531V	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	531	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCGAATGAAGCAAACTCTAT	0.448																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1591-1593)gCt>gTt		nucleolin							93.0	92.0	93.0					2																	232321455		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232321455G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1592C>T	2.37:g.232321455G>A	ENSP00000318195:p.Ala531Val						p.A531V	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	11	1832	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	531			RRM 3.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1592C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863926	0.71949	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;D	0.88818	2.29;-2.43	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.466636	0.26048	N	0.026656	D	0.90116	0.6912	N	0.25485	0.75	0.35201	D	0.77424	D	0.56035	0.974	P	0.60012	0.867	D	0.92669	0.6148	10	0.52906	T	0.07	-9.5425	18.6624	0.91475	0.0:0.0:1.0:0.0	.	531	P19338	NUCL_HUMAN	V	531;423;303;156	ENSP00000318195:A531V;ENSP00000349410:A156V	ENSP00000318195:A531V	A	-	2	0	NCL	232029699	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.067000	0.64357	2.651000	0.90000	0.551000	0.68910	GCT		0.448	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		26	46	0	0	0	1	0	26	46				
NTSR1	4923	broad.mit.edu	37	20	61340858	61340858	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61340858C>T	ENST00000370501.3	+	1	670	c.299C>T	c.(298-300)aCg>aTg	p.T100M		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	100					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTGCAGAGCACGGTGCATTAC	0.662																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(298-300)aCg>aTg		neurotensin receptor 1 (high affinity)							70.0	58.0	62.0					20																	61340858		2203	4299	6502	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340858C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.299C>T	20.37:g.61340858C>T	ENSP00000359532:p.Thr100Met						p.T100M	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	670	+	Breast(26;3.65e-08)		100					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.299C>T	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599044	0.46318	.	.	ENSG00000101188	ENST00000370501	T	0.38077	1.16	4.93	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.120716	0.53938	D	0.000042	T	0.58552	0.2130	M	0.72894	2.215	0.49389	D	0.999788	D	0.89917	1.0	D	0.81914	0.995	T	0.62959	-0.6743	10	0.62326	D	0.03	-26.6427	14.7348	0.69409	0.0:0.8537:0.1463:0.0	.	100	P30989	NTR1_HUMAN	M	100	ENSP00000359532:T100M	ENSP00000359532:T100M	T	+	2	0	NTSR1	60811303	1.000000	0.71417	0.850000	0.33497	0.003000	0.03518	4.682000	0.61671	1.038000	0.40049	0.561000	0.74099	ACG		0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	16	0	0	0	1	0	6	16				
FZD5	7855	broad.mit.edu	37	2	208631738	208631738	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208631738A>G	ENST00000295417.3	-	2	2279	c.1726T>C	c.(1726-1728)Tac>Cac	p.Y576H		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	576					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCTTGTGGTAGGTggcggcg	0.726																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1726-1728)Tac>Cac		frizzled family receptor 5							28.0	32.0	30.0					2																	208631738		1519	3488	5007	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208631738A>G	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1726T>C	2.37:g.208631738A>G	ENSP00000354607:p.Tyr576His						p.Y576H	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	2279	-			576					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1726T>C	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081293	0.20309	.	.	ENSG00000163251	ENST00000295417	T	0.80033	-1.33	5.14	3.99	0.46301	.	0.420468	0.23295	U	0.049746	T	0.58963	0.2159	N	0.08118	0	0.43076	D	0.994722	B	0.09022	0.002	B	0.10450	0.005	T	0.48801	-0.9003	10	0.14656	T	0.56	.	8.2303	0.31595	0.8477:0.0:0.1523:0.0	.	576	Q13467	FZD5_HUMAN	H	576	ENSP00000354607:Y576H	ENSP00000354607:Y576H	Y	-	1	0	FZD5	208339983	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.169000	0.50809	0.983000	0.38602	0.459000	0.35465	TAC		0.726	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		5	33	0	0	0	1	0	5	33				
HECTD3	79654	broad.mit.edu	37	1	45475738	45475738	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45475738A>G	ENST00000372172.4	-	4	750	c.679T>C	c.(679-681)Tat>Cat	p.Y227H	HECTD3_ENST00000372168.3_5'Flank|UROD_ENST00000246337.4_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	227	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTGGTCATACAAGAAGTGG	0.572																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(679-681)Tat>Cat		HECT domain containing E3 ubiquitin protein ligase 3							135.0	145.0	141.0					1																	45475738		2158	4240	6398	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475738A>G	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.679T>C	1.37:g.45475738A>G	ENSP00000361245:p.Tyr227His						p.Y227H	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			4	750	-	Acute lymphoblastic leukemia(166;0.155)		227			DOC.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.679T>C	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032575	0.35893	.	.	ENSG00000126107	ENST00000372172	T	0.64438	-0.1	4.23	4.23	0.50019	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.43152	1.355	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.50625	-0.8806	10	0.42905	T	0.14	.	9.2557	0.37581	0.9134:0.0:0.0866:0.0	.	227	Q5T447	HECD3_HUMAN	H	227	ENSP00000361245:Y227H	ENSP00000361245:Y227H	Y	-	1	0	HECTD3	45248325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.517000	0.73759	1.918000	0.55548	0.533000	0.62120	TAT		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		19	23	0	0	0	1	0	19	23				
DERA	51071	broad.mit.edu	37	12	16109906	16109906	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16109906C>T	ENST00000428559.2	+	2	280	c.68C>T	c.(67-69)cCg>cTg	p.P23L	DERA_ENST00000532964.1_Missense_Mutation_p.P23L|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	23					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GTGAATCACCCGGCAGTTCTG	0.418																																						ENST00000428559.2																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(67-69)cCg>cTg		deoxyribose-phosphate aldolase (putative)							72.0	70.0	71.0					12																	16109906		1863	4099	5962	SO:0001583	missense	51071				deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	g.chr12:16109906C>T	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.68C>T	12.37:g.16109906C>T	ENSP00000416583:p.Pro23Leu					DERA_ENST00000532964.1_Missense_Mutation_p.P23L|DERA_ENST00000526530.1_5'UTR	p.P23L	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN			2	280	+		Hepatocellular(102;0.121)	23					Q53HN9|Q6PHW2	Missense_Mutation	SNP	ENST00000428559.2	37	c.68C>T	CCDS44838.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774140	0.49786	.	.	ENSG00000023697	ENST00000428559;ENST00000531803;ENST00000532964	.	.	.	5.14	5.14	0.70334	.	0.187575	0.48286	D	0.000196	T	0.43100	0.1232	L	0.55990	1.75	0.80722	D	1	P	0.44006	0.824	B	0.29598	0.104	T	0.45279	-0.9272	9	0.27785	T	0.31	-9.0023	16.965	0.86283	0.0:1.0:0.0:0.0	.	23	Q9Y315	DEOC_HUMAN	L	23;44;23	.	ENSP00000416583:P23L	P	+	2	0	DERA	16001173	1.000000	0.71417	0.403000	0.26384	0.955000	0.61496	5.320000	0.65841	2.670000	0.90874	0.655000	0.94253	CCG		0.418	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954		6	19	0	0	0	1	0	6	19				
EFHD1	80303	broad.mit.edu	37	2	233498631	233498631	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233498631C>T	ENST00000264059.3	+	1	694	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	73					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TGCGCGGCCCCGGCGCTGCAG	0.711																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(217-219)Cgg>Tgg		EF-hand domain family, member D1							9.0	11.0	10.0					2																	233498631		2114	4224	6338	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233498631C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.217C>T	2.37:g.233498631C>T	ENSP00000264059:p.Arg73Trp					EFHD1_ENST00000409613.1_Intron	p.R73W	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	1	694	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	73					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.217C>T	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645972	0.67358	.	.	ENSG00000115468	ENST00000264059	T	0.66460	-0.21	3.46	2.56	0.30785	.	0.568645	0.17452	N	0.173759	T	0.63815	0.2543	L	0.50333	1.59	0.58432	D	0.999999	D	0.69078	0.997	P	0.49502	0.613	T	0.63256	-0.6678	10	0.72032	D	0.01	-1.5601	7.2362	0.26072	0.192:0.6213:0.1867:0.0	.	73	Q9BUP0	EFHD1_HUMAN	W	73	ENSP00000264059:R73W	ENSP00000264059:R73W	R	+	1	2	EFHD1	233206875	0.797000	0.28877	0.119000	0.21687	0.643000	0.38383	1.973000	0.40550	0.638000	0.30545	0.491000	0.48974	CGG		0.711	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		4	8	0	0	0	1	0	4	8				
KIAA1024	23251	broad.mit.edu	37	15	79750157	79750157	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79750157C>T	ENST00000305428.3	+	2	1743	c.1668C>T	c.(1666-1668)tgC>tgT	p.C556C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	556						integral component of membrane (GO:0016021)		p.C556>?(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGTCAGACTGCGACAGTTCCC	0.527																																						ENST00000305428.3																			1	Complex(1)	p.C556>?(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1666-1668)tgC>tgT		KIAA1024							75.0	63.0	67.0					15																	79750157		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79750157C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1668C>T	15.37:g.79750157C>T							p.C556C	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1743	+			556					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1668C>T	CCDS32306.1																																																																																				0.527	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	18	0	0	0	1	0	14	18				
WDR62	284403	broad.mit.edu	37	19	36557276	36557276	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36557276A>G	ENST00000270301.7	+	5	508	c.508A>G	c.(508-510)Atc>Gtc	p.I170V	WDR62_ENST00000401500.2_Missense_Mutation_p.I170V|WDR62_ENST00000388999.3_Missense_Mutation_p.I170V|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	170					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TATGAAGCACATCGTGTCCAT	0.577																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(508-510)Atc>Gtc		WD repeat domain 62							161.0	105.0	124.0					19																	36557276		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36557276A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.508A>G	19.37:g.36557276A>G	ENSP00000270301:p.Ile170Val					WDR62_ENST00000270301.7_Missense_Mutation_p.I170V|WDR62_ENST00000388999.3_Missense_Mutation_p.I170V|WDR62_ENST00000378860.4_3'UTR	p.I170V	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	543	+	Esophageal squamous(110;0.162)		170					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.508A>G	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790697	0.70452	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049342	0.85682	D	0.000000	T	0.59307	0.2184	N	0.24115	0.695	0.40490	D	0.980532	D;P;B	0.56521	0.976;0.844;0.285	P;P;B	0.59643	0.861;0.617;0.203	T	0.60566	-0.7238	10	0.37606	T	0.19	-26.3047	14.1367	0.65291	1.0:0.0:0.0:0.0	.	170;170;170	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	170;170;170;170;192	ENSP00000384792:I170V;ENSP00000373651:I170V;ENSP00000368137:I170V;ENSP00000270301:I170V	ENSP00000270301:I170V	I	+	1	0	WDR62	41249116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.194000	0.58393	2.232000	0.73038	0.529000	0.55759	ATC		0.577	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		3	2	0	0	0	1	0	3	2				
ENPP7	339221	broad.mit.edu	37	17	77709383	77709383	+	Missense_Mutation	SNP	C	C	T	rs148221256	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77709383C>T	ENST00000328313.5	+	3	1162	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAGAAGGAGGCGTTCCCCGAG	0.607													C|||	5	0.000998403	0.0	0.0	5008	,	,		12692	0.005		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(940-942)gCg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 7							79.0	69.0	72.0					17																	77709383		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709383C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.941C>T	17.37:g.77709383C>T	ENSP00000332656:p.Ala314Val						p.A314V	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	1162	+			314						Missense_Mutation	SNP	ENST00000328313.5	37	c.941C>T	CCDS11763.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	9.525	1.109390	0.20714	.	.	ENSG00000182156	ENST00000328313	T	0.75367	-0.93	5.16	-10.3	0.00346	Alkaline-phosphatase-like, core domain (1);	2.191760	0.03750	N	0.256410	T	0.39545	0.1082	N	0.05383	-0.06	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.42207	-0.9465	10	0.52906	T	0.07	-0.5261	5.6555	0.17640	0.5382:0.2657:0.0617:0.1344	.	314	Q6UWV6	ENPP7_HUMAN	V	314	ENSP00000332656:A314V	ENSP00000332656:A314V	A	+	2	0	ENPP7	75323978	0.003000	0.15002	0.000000	0.03702	0.013000	0.08279	0.718000	0.25866	-2.154000	0.00792	-2.138000	0.00339	GCG		0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	22	0	0	0	1	0	5	22				
VAV3	10451	broad.mit.edu	37	1	108185257	108185257	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:108185257T>C	ENST00000370056.4	-	20	2172	c.1898A>G	c.(1897-1899)cAc>cGc	p.H633R	VAV3_ENST00000544443.1_Missense_Mutation_p.H37R|VAV3_ENST00000415432.2_Missense_Mutation_p.H73R|VAV3_ENST00000527011.1_Missense_Mutation_p.H633R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	633	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAACAGACTGTGTGCATCTCC	0.517																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1897-1899)cAc>cGc		vav 3 guanine nucleotide exchange factor							95.0	97.0	96.0					1																	108185257		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185257T>C	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1898A>G	1.37:g.108185257T>C	ENSP00000359073:p.His633Arg					VAV3_ENST00000415432.2_Missense_Mutation_p.H73R|VAV3_ENST00000544443.1_Missense_Mutation_p.H37R|VAV3_ENST00000527011.1_Missense_Mutation_p.H633R|VAV3_ENST00000343258.4_5'UTR	p.H633R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	2172	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	633			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1898A>G	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.47|17.47	3.398262|3.398262	0.62177|0.62177	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432|ENST00000529809	T;T;T;T|.	0.28666|.	1.6;3.16;3.16;1.6|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (3);Variant SH3 (1);|.	0.147825|.	0.64402|.	D|.	0.000011|.	T|T	0.58623|0.58623	0.2135|0.2135	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	B;P;B;P|.	0.51240|.	0.117;0.943;0.407;0.93|.	B;P;B;P|.	0.52109|.	0.129;0.69;0.405;0.642|.	T|T	0.58526|0.58526	-0.7621|-0.7621	10|5	0.54805|.	T|.	0.06|.	.|.	15.3361|15.3361	0.74255|0.74255	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	633;37;633;73|.	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3|.	.;.;VAV3_HUMAN;.|.	R|A	633;633;37;73|161	ENSP00000359073:H633R;ENSP00000432540:H633R;ENSP00000446404:H37R;ENSP00000394897:H73R|.	ENSP00000359073:H633R|.	H|T	-|-	2|1	0|0	VAV3|VAV3	107986780|107986780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.042000|5.042000	0.64202|0.64202	2.167000|2.167000	0.68274|0.68274	0.454000|0.454000	0.30748|0.30748	CAC|ACA		0.517	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		17	20	0	0	0	1	0	17	20				
ARID5A	10865	broad.mit.edu	37	2	97216925	97216925	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97216925C>T	ENST00000357485.3	+	7	738	c.660C>T	c.(658-660)ggC>ggT	p.G220G	ARID5A_ENST00000454558.2_Silent_p.G152G	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	220					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AACAGCAGGGCCTGGCCTCTG	0.597																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(454-456)ggC>ggT		AT rich interactive domain 5A (MRF1-like)							58.0	65.0	63.0					2																	97216925		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216925C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.660C>T	2.37:g.97216925C>T						ARID5A_ENST00000357485.3_Silent_p.G220G	p.G152G			Q03989	ARI5A_HUMAN			7	1633	+			220					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.456C>T	CCDS33251.1																																																																																				0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		17	37	0	0	0	1	0	17	37				
PCSK6	5046	broad.mit.edu	37	15	101906538	101906538	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:101906538C>A	ENST00000561177.1	-	13	1888		c.e13-1		PCSK6_ENST00000348070.1_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000331826.7_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6						determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCCAGCAACCTGCAATTGGA	0.542																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e14-1		proprotein convertase subtilisin/kexin type 6							73.0	71.0	72.0					15																	101906538		1928	4131	6059	SO:0001630	splice_region_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101906538C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000561177.1:c.2520-1G>T	15.37:g.101906538C>A						PCSK6_ENST00000331826.7_Splice_Site|PCSK6_ENST00000358417.3_Splice_Site|PCSK6_ENST00000561177.1_Splice_Site|PCSK6_ENST00000344273.2_Splice_Site|PCSK6_ENST00000398181.2_Splice_Site		NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	1718	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)							Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	SNP	ENST00000561177.1	37			.	.	.	.	.	.	.	.	.	.	C	19.03	3.747803	0.69533	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4988	0.87726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK6	99724061	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	7.247000	0.78257	2.351000	0.79841	0.655000	0.94253	.		0.542	PCSK6-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000416811.5	NM_002570	Intron	12	20	1	0	7.93312e-07	1	8.27737e-07	12	20				
DOPEY1	23033	broad.mit.edu	37	6	83848608	83848608	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83848608A>G	ENST00000349129.2	+	21	5107	c.4847A>G	c.(4846-4848)cAc>cGc	p.H1616R	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H1607R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.H1597R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1616					protein transport (GO:0015031)			p.H1616R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GACTTAGAACACATCAGTCCC	0.418																																						ENST00000349129.2																			1	Substitution - Missense(1)	p.H1616R(1)	endometrium(1)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4846-4848)cAc>cGc		dopey family member 1							99.0	80.0	86.0					6																	83848608		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83848608A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4847A>G	6.37:g.83848608A>G	ENSP00000195654:p.His1616Arg					DOPEY1_ENST00000237163.5_Missense_Mutation_p.H1597R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.H1607R	p.H1616R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5107	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1616					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4847A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.240246	0.22711	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.40756	1.02;1.02	5.9	5.9	0.94986	.	0.045412	0.85682	D	0.000000	T	0.16128	0.0388	N	0.04508	-0.205	0.80722	D	1	P;P;P	0.50443	0.935;0.799;0.799	P;B;B	0.47864	0.559;0.276;0.276	T	0.10870	-1.0611	10	0.15952	T	0.53	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1507;1607;1616	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1616;1597;1597	ENSP00000195654:H1616R;ENSP00000237163:H1597R	ENSP00000237163:H1597R	H	+	2	0	DOPEY1	83905327	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	8.730000	0.91510	2.264000	0.75181	0.533000	0.62120	CAC		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		28	78	0	0	0	1	0	28	78				
MSX1	4487	broad.mit.edu	37	4	4864847	4864847	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4864847T>C	ENST00000382723.4	+	2	1123	c.889T>C	c.(889-891)Tac>Cac	p.Y297H		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	297					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCATGTGGGCTACAGCATGTA	0.701																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(889-891)Tac>Cac		msh homeobox 1							10.0	13.0	12.0					4																	4864847		2091	4094	6185	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864847T>C	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.889T>C	4.37:g.4864847T>C	ENSP00000372170:p.Tyr297His						p.Y297H	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1123	+			291					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.889T>C	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306523	0.81247	.	.	ENSG00000163132	ENST00000382723	D	0.90844	-2.74	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.94483	0.7695	10	0.59425	D	0.04	-7.2229	10.8078	0.46529	0.0:0.0773:0.0:0.9227	.	291	P28360	MSX1_HUMAN	H	297	ENSP00000372170:Y297H	ENSP00000372170:Y297H	Y	+	1	0	MSX1	4915748	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.127000	0.71642	1.926000	0.55796	0.379000	0.24179	TAC		0.701	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			5	2	0	0	0	1	0	5	2				
PCDHA5	56143	broad.mit.edu	37	5	140203117	140203117	+	Missense_Mutation	SNP	C	C	T	rs138704270		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140203117C>T	ENST00000529859.1	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	586	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGGGTGCGGGCCACGTG	0.682																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1756-1758)gCg>gTg									60.0	66.0	64.0					5																	140203117		2202	4299	6501	SO:0001583	missense	0							g.chr5:140203117C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1757C>T	5.37:g.140203117C>T	ENSP00000436557:p.Ala586Val					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A586V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A586V|PCDHA2_ENST00000526136.1_Intron	p.A586V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1757	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1757C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055746	0.19907	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.36520	1.25;1.25;1.25	3.87	3.87	0.44632	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28863	0.0716	N	0.25789	0.76	0.21841	N	0.999511	B;B;B	0.23442	0.085;0.046;0.082	B;B;B	0.18263	0.021;0.013;0.013	T	0.16070	-1.0415	9	0.39692	T	0.17	.	16.2362	0.82377	0.0:1.0:0.0:0.0	.	586;586;586	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	586	ENSP00000433416:A586V;ENSP00000436557:A586V;ENSP00000367366:A586V	ENSP00000367366:A586V	A	+	2	0	PCDHA5	140183301	0.001000	0.12720	0.631000	0.29282	0.206000	0.24218	0.319000	0.19522	1.887000	0.54652	0.306000	0.20318	GCG		0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		24	34	0	0	0	1	0	24	34				
CLINT1	9685	broad.mit.edu	37	5	157214774	157214774	+	Silent	SNP	G	G	A	rs376089257		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157214774G>A	ENST00000411809.2	-	12	1962	c.1758C>T	c.(1756-1758)tcC>tcT	p.S586S	CLINT1_ENST00000523094.1_Silent_p.S586S|CLINT1_ENST00000296951.5_Silent_p.S586S|CLINT1_ENST00000530742.1_Silent_p.S586S|CLINT1_ENST00000523908.1_Silent_p.S604S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	586	Met-rich.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCAGCAGCGGACATCCCTA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17965	0.0		0.0	False		,,,				2504	0.0				Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1756-1758)tcC>tcT		clathrin interactor 1		G	,,	1,4089		0,1,2044	170.0	165.0	166.0		1812,1758,1758	-6.6	0.0	5		166	0,8400		0,0,4200	no	coding-synonymous,coding-synonymous,coding-synonymous	CLINT1	NM_001195555.1,NM_001195556.1,NM_014666.3	,,	0,1,6244	AA,AG,GG		0.0,0.0244,0.0080	,,	604/644,586/626,586/626	157214774	1,12489	2045	4200	6245	SO:0001819	synonymous_variant	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157214774G>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1758C>T	5.37:g.157214774G>A						CLINT1_ENST00000523908.1_Silent_p.S604S|CLINT1_ENST00000296951.5_Silent_p.S586S|CLINT1_ENST00000411809.2_Silent_p.S586S|CLINT1_ENST00000530742.1_Silent_p.S586S	p.S586S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1963	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	586			Met-rich.		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Silent	SNP	ENST00000411809.2	37	c.1758C>T	CCDS47330.1																																																																																				0.512	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		33	74	0	0	0	1	0	33	74				
COBLL1	22837	broad.mit.edu	37	2	165550911	165550911	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165550911C>A	ENST00000392717.2	-	13	3223	c.3219G>T	c.(3217-3219)caG>caT	p.Q1073H	COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1102H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1035H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1035H|COBLL1_ENST00000375458.2_Missense_Mutation_p.Q997H			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1073						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TACTGAAAGACTGTGACCTTT	0.463																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2989-2991)caG>caT		cordon-bleu WH2 repeat protein-like 1							117.0	107.0	111.0					2																	165550911		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165550911C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3219G>T	2.37:g.165550911C>A	ENSP00000376478:p.Gln1073His					COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1102H|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q1073H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q1035H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q1035H	p.Q997H	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	3212	-			1073					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2991G>T		.	.	.	.	.	.	.	.	.	.	C	18.04	3.535478	0.64972	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	T	0.76499	0.3996	M	0.68952	2.095	0.38619	D	0.951092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.78816	-0.2055	9	0.59425	D	0.04	-10.5943	13.021	0.58787	0.0:0.8858:0.0:0.1142	.	1073;1102;1035	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	H	997;1035;1035;1073;1102	.	ENSP00000194871:Q1102H	Q	-	3	2	COBLL1	165259157	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.350000	0.34010	2.824000	0.97209	0.655000	0.94253	CAG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		25	31	1	0	4.7796e-09	1	5.06125e-09	25	31				
NAA15	80155	broad.mit.edu	37	4	140264115	140264115	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140264115G>A	ENST00000296543.5	+	5	860		c.e5+1		NAA15_ENST00000398947.1_Splice_Site|NAA15_ENST00000480277.2_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AACACAACAGGTAATAACTAG	0.303																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e5+1		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							70.0	66.0	67.0					4																	140264115		1812	4077	5889	SO:0001630	splice_region_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140264115G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.537+1G>A	4.37:g.140264115G>A						NAA15_ENST00000480277.2_Splice_Site|NAA15_ENST00000398947.1_Splice_Site		NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			5	860	+								D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Splice_Site	SNP	ENST00000296543.5	37		CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182046	0.78677	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.162	0.89710	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA15	140483565	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.075000	0.94004	2.590000	0.87494	0.467000	0.42956	.		0.303	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	Intron	14	16	0	0	0	1	0	14	16				
NOD1	10392	broad.mit.edu	37	7	30469004	30469004	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30469004G>A	ENST00000222823.4	-	13	3300	c.2775C>T	c.(2773-2775)ggC>ggT	p.G925G		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	925					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCTCTGTTATGCCAGTGTTGC	0.468																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2773-2775)ggC>ggT		nucleotide-binding oligomerization domain containing 1							305.0	298.0	300.0					7																	30469004		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30469004G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2775C>T	7.37:g.30469004G>A							p.G925G	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			13	3300	-			925					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2775C>T	CCDS5427.1																																																																																				0.468	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			76	131	0	0	0	1	0	76	131				
DOK3	79930	broad.mit.edu	37	5	176931272	176931272	+	Silent	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176931272C>G	ENST00000357198.4	-	6	1207	c.1203G>C	c.(1201-1203)ctG>ctC	p.L401L	DOK3_ENST00000501403.2_Silent_p.L345L|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	401	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCACACACAGGTTCTCAT	0.667																																						ENST00000501403.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(1033-1035)ctG>ctC		docking protein 3							18.0	20.0	20.0					5																	176931272		2200	4299	6499	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931272C>G	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1203G>C	5.37:g.176931272C>G						DOK3_ENST00000312943.6_Intron|DOK3_ENST00000357198.4_Silent_p.L401L|DOK3_ENST00000377112.4_Intron	p.L345L			Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1384	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	401			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.1035G>C	CCDS4426.1																																																																																				0.667	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		3	1	0	0	0	1	0	3	1				
SPTBN5	51332	broad.mit.edu	37	15	42144411	42144411	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42144411C>T	ENST00000320955.6	-	62	10780	c.10553G>A	c.(10552-10554)gGa>gAa	p.G3518E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3518					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCTGTGCTCCTAGCCCCTG	0.672																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(10552-10554)gGa>gAa		spectrin, beta, non-erythrocytic 5							23.0	29.0	27.0					15																	42144411		2078	4215	6293	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42144411C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10553G>A	15.37:g.42144411C>T	ENSP00000317790:p.Gly3518Glu						p.G3518E	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	62	10780	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3518						Missense_Mutation	SNP	ENST00000320955.6	37	c.10553G>A		.	.	.	.	.	.	.	.	.	.	.	0.092	-1.166065	0.01673	.	.	ENSG00000137877	ENST00000320955	T	0.71222	-0.55	3.31	1.29	0.21616	.	0.278593	0.25058	N	0.033475	T	0.46328	0.1387	L	0.27053	0.805	0.09310	N	1	P	0.48162	0.906	B	0.41036	0.346	T	0.52503	-0.8567	10	0.02654	T	1	.	5.6329	0.17520	0.2259:0.5546:0.2195:0.0	.	3518	Q9NRC6	SPTN5_HUMAN	E	3518	ENSP00000317790:G3518E	ENSP00000317790:G3518E	G	-	2	0	SPTBN5	39931703	0.000000	0.05858	0.009000	0.14445	0.034000	0.12701	-0.180000	0.09754	0.202000	0.20498	0.655000	0.94253	GGA		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	12	0	0	0	1	0	11	12				
DDX18	8886	broad.mit.edu	37	2	118582239	118582239	+	Silent	SNP	C	C	T	rs200212017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:118582239C>T	ENST00000263239.2	+	8	1289	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	387					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTATGTTGGCGTTGATGATG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		19802	0.001		0.0	False		,,,				2504	0.0					ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1159-1161)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							165.0	162.0	163.0					2																	118582239		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582239C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1161C>T	2.37:g.118582239C>T							p.G387G	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			8	1289	+			387					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1161C>T	CCDS2120.1																																																																																				0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		52	81	0	0	0	1	0	52	81				
GTF3C1	2975	broad.mit.edu	37	16	27539921	27539921	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27539921T>C	ENST00000356183.4	-	6	986	c.971A>G	c.(970-972)aAa>aGa	p.K324R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K324R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	324					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCATTACCTTTCTTTGTCTT	0.502																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(970-972)aAa>aGa		general transcription factor IIIC, polypeptide 1, alpha 220kDa							112.0	108.0	110.0					16																	27539921		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27539921T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.971A>G	16.37:g.27539921T>C	ENSP00000348510:p.Lys324Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.K324R	p.K324R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			6	986	-			324					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.971A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780251	0.49891	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	5.07	5.07	0.68467	.	0.235957	0.42821	D	0.000642	T	0.14184	0.0343	N	0.12746	0.255	0.36565	D	0.872689	P;P	0.48230	0.907;0.886	B;B	0.40940	0.247;0.344	T	0.12400	-1.0549	10	0.41790	T	0.15	-4.9642	9.3906	0.38370	0.0:0.0815:0.0:0.9185	.	324;324	Q12789;Q12789-3	TF3C1_HUMAN;.	R	324;322	ENSP00000348510:K324R	ENSP00000348510:K324R	K	-	2	0	GTF3C1	27447422	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.473000	0.53122	2.037000	0.60232	0.533000	0.62120	AAA		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		25	42	0	0	0	1	0	25	42				
PPM1A	5494	broad.mit.edu	37	14	60749508	60749508	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60749508G>A	ENST00000395076.4	+	2	517	c.87G>A	c.(85-87)atG>atA	p.M29I	PPM1A_ENST00000529574.1_Missense_Mutation_p.M29I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M102I|PPM1A_ENST00000325658.3_Missense_Mutation_p.M29I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	29					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TAAGCAGCATGCAAGGCTGGC	0.483																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(85-87)atG>atA		protein phosphatase, Mg2+/Mn2+ dependent, 1A							391.0	349.0	363.0					14																	60749508		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749508G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.87G>A	14.37:g.60749508G>A	ENSP00000378514:p.Met29Ile					PPM1A_ENST00000325642.3_Missense_Mutation_p.M102I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M29I|PPM1A_ENST00000325658.3_Missense_Mutation_p.M29I	p.M29I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	517	+			29					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.87G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721308	0.89205	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.75	5.75	0.90469	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.995;0.993;0.993	T	0.32268	-0.9913	10	0.87932	D	0	-4.3181	19.9233	0.97095	0.0:0.0:1.0:0.0	.	29;29;29	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	I	102;29;29;29;29;29;29	ENSP00000327255:M102I;ENSP00000432966:M29I;ENSP00000378514:M29I;ENSP00000314850:M29I;ENSP00000431453:M29I;ENSP00000435398:M29I;ENSP00000435575:M29I	ENSP00000327255:M102I	M	+	3	0	PPM1A	59819261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.704000	0.92352	0.591000	0.81541	ATG		0.483	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		7	192	0	0	0	1	0	7	192				
PLEKHA4	57664	broad.mit.edu	37	19	49363659	49363659	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49363659G>A	ENST00000263265.6	-	6	979	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R142W|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	142	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGCCAGCCCCGCAGGTCTTCT	0.652																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(424-426)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							55.0	59.0	58.0					19																	49363659		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363659G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.424C>T	19.37:g.49363659G>A	ENSP00000263265:p.Arg142Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R142W	p.R142W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	979	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	142			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.424C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287922	0.80803	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.76578	-1.03;-1.03	4.46	0.633	0.17712	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.328142	0.25402	N	0.030933	D	0.83788	0.5330	M	0.62723	1.935	0.33118	D	0.541429	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.85623	0.1265	10	0.87932	D	0	.	10.8462	0.46744	0.0:0.0:0.3926:0.6074	.	142;142	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	142	ENSP00000263265:R142W;ENSP00000347683:R142W	ENSP00000263265:R142W	R	-	1	2	PLEKHA4	54055471	0.988000	0.35896	0.998000	0.56505	0.991000	0.79684	0.387000	0.20718	0.099000	0.17552	0.462000	0.41574	CGG		0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			29	45	0	0	0	1	0	29	45				
WDHD1	11169	broad.mit.edu	37	14	55474015	55474015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55474015G>A	ENST00000360586.3	-	7	648	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.Q72*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.Q72*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	195					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTTTTTGGCTGCCAAGCAAGT	0.338																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(583-585)Cag>Tag		WD repeat and HMG-box DNA binding protein 1							103.0	97.0	99.0					14																	55474015		2203	4299	6502	SO:0001587	stop_gained	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55474015G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.583C>T	14.37:g.55474015G>A	ENSP00000353793:p.Gln195*					WDHD1_ENST00000421192.1_Nonsense_Mutation_p.Q72*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.Q72*	p.Q195*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			7	648	-			195					C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	c.583C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.857411	0.98528	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	X	195;72;72	.	ENSP00000353793:Q195X	Q	-	1	0	WDHD1	54543765	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.176000	0.94839	2.658000	0.90341	0.655000	0.94253	CAG		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		16	42	0	0	0	1	0	16	42				
UBALD1	124402	broad.mit.edu	37	16	4659782	4659782	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4659782G>A	ENST00000283474.7	-	3	514	c.386C>T	c.(385-387)tCg>tTg	p.S129L	UBALD1_ENST00000591897.1_Missense_Mutation_p.S69L|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000590891.1_Missense_Mutation_p.S164L|UBALD1_ENST00000587615.1_Missense_Mutation_p.S104L|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000591401.1_Missense_Mutation_p.S108L	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	129	Pro-rich.																CCCCGGGGGCGAGGCCGCCGT	0.741																																						ENST00000590891.1																			0											c.(490-492)tCg>tTg		UBA-like domain containing 1							7.0	11.0	10.0					16																	4659782		1986	4086	6072	SO:0001583	missense	124402							g.chr16:4659782G>A	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member A"""	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.386C>T	16.37:g.4659782G>A	ENSP00000283474:p.Ser129Leu					UBALD1_ENST00000587615.1_Missense_Mutation_p.S104L|UBALD1_ENST00000591401.1_Missense_Mutation_p.S108L|UBALD1_ENST00000591897.1_Missense_Mutation_p.S69L|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000283474.7_Missense_Mutation_p.S129L	p.S164L							1	1742	-								Q71MF6	Missense_Mutation	SNP	ENST00000283474.7	37	c.491C>T	CCDS10518.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170259	0.21621	.	.	ENSG00000153443	ENST00000283474	.	.	.	4.11	3.1	0.35709	.	0.632167	0.15013	N	0.285476	T	0.46308	0.1386	L	0.38175	1.15	0.38389	D	0.945357	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.51903	-0.8646	9	0.52906	T	0.07	.	11.008	0.47646	0.0:0.1878:0.8122:0.0	.	69;129	D3DUE0;Q8TB05	.;F100A_HUMAN	L	129	.	ENSP00000283474:S129L	S	-	2	0	FAM100A	4599783	0.976000	0.34144	0.954000	0.39281	0.508000	0.34012	1.959000	0.40412	2.140000	0.66376	0.563000	0.77884	TCG		0.741	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251635.2	NM_145253		5	6	0	0	0	1	0	5	6				
PIK3R5	23533	broad.mit.edu	37	17	8791557	8791557	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8791557G>A	ENST00000447110.1	-	10	1671	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	PIK3R5_ENST00000581552.1_Missense_Mutation_p.T516M|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T516M	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	516					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AACACGTAGCGTGGAAGCCTT	0.622																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1546-1548)aCg>aTg		phosphoinositide-3-kinase, regulatory subunit 5							68.0	67.0	67.0					17																	8791557		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791557G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1547C>T	17.37:g.8791557G>A	ENSP00000392812:p.Thr516Met					PIK3R5_ENST00000581552.1_Missense_Mutation_p.T516M|PIK3R5_ENST00000584803.1_Missense_Mutation_p.T516M	p.T516M	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1671	-			516					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1547C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010307	0.19277	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.83914	-1.78	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	L	0.34521	1.04	0.58432	D	0.999996	D	0.69078	0.997	D	0.65140	0.932	D	0.88147	0.2848	10	0.87932	D	0	-15.5853	18.941	0.92605	0.0:0.0:1.0:0.0	.	516	Q8WYR1	PI3R5_HUMAN	M	516	ENSP00000392812:T516M	ENSP00000269300:T516M	T	-	2	0	PIK3R5	8732282	1.000000	0.71417	0.949000	0.38748	0.104000	0.19210	5.074000	0.64401	2.568000	0.86640	0.650000	0.86243	ACG		0.622	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		38	47	0	0	0	1	0	38	47				
UGT2B15	7366	broad.mit.edu	37	4	69519894	69519894	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69519894C>T	ENST00000338206.5	-	5	1183	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	392					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GGAATGCCCACCATAGGGATC	0.458																																						ENST00000338206.5																			0											c.(1174-1176)Gtg>Atg		UDP glucuronosyltransferase 2 family, polypeptide B15							187.0	183.0	185.0					4																	69519894		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519894C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1174G>A	4.37:g.69519894C>T	ENSP00000341045:p.Val392Met						p.V392M	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1183	-			392					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1174G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	13.44	2.238878	0.39598	.	.	ENSG00000196620	ENST00000338206	T	0.70282	-0.47	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000007	D	0.88058	0.6335	H	0.97365	3.99	0.27117	N	0.962225	D	0.89917	1.0	D	0.83275	0.996	T	0.80828	-0.1208	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	392	P54855	UDB15_HUMAN	M	392	ENSP00000341045:V392M	ENSP00000341045:V392M	V	-	1	0	UGT2B15	69202489	0.996000	0.38824	1.000000	0.80357	0.443000	0.32047	0.585000	0.23879	1.421000	0.47157	0.455000	0.32223	GTG		0.458	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		62	92	0	0	0	1	0	62	92				
CACNA2D2	9254	broad.mit.edu	37	3	50402359	50402359	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50402359T>C	ENST00000479441.1	-	38	3271	c.3272A>G	c.(3271-3273)tAc>tGc	p.Y1091C	XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.Y1084C|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.Y1094C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.Y1086C|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.Y1017C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.Y1085C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.Y1087C|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.Y1094C|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1091					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCCTCTCCGGTATCGCGGTCT	0.716																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(3280-3282)tAc>tGc		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						46.0	47.0	47.0					3																	50402359		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402359T>C	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3272A>G	3.37:g.50402359T>C	ENSP00000418081:p.Tyr1091Cys					CACNA2D2_ENST00000360963.3_Missense_Mutation_p.Y1017C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.Y1087C|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.Y1094C|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.Y1091C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.Y1085C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.Y1086C|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.Y1084C	p.Y1094C			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	38	3454	-			1091					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.3281A>G	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613781	0.87359	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.42	4.42	0.53409	.	0.153091	0.45126	D	0.000385	T	0.78419	0.4280	M	0.64997	1.995	0.58432	D	0.999995	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.85130	0.78;0.997;0.99	T	0.79645	-0.1717	10	0.52906	T	0.07	-15.3021	13.3623	0.60663	0.0:0.0:0.0:1.0	.	1091;1084;1094	Q9NY47;Q9NY47-2;C9JGM2	CA2D2_HUMAN;.;.	C	1094;1085;1086;1017;1094;1087;1084;1091	ENSP00000407393:Y1094C;ENSP00000404631:Y1085C;ENSP00000266039:Y1086C;ENSP00000354228:Y1017C;ENSP00000390526:Y1094C;ENSP00000378519:Y1087C;ENSP00000390329:Y1084C;ENSP00000418081:Y1091C	ENSP00000266039:Y1086C	Y	-	2	0	CACNA2D2	50377363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.092000	0.76930	1.624000	0.50355	0.334000	0.21626	TAC		0.716	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		9	18	0	0	0	1	0	9	18				
SERPINI1	5274	broad.mit.edu	37	3	167508391	167508391	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167508391G>A	ENST00000295777.5	+	3	912		c.e3+1		SERPINI1_ENST00000446050.2_Splice_Site	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1						cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AACACAAACAGTATGTCACTT	0.353																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.e3+1		serpin peptidase inhibitor, clade I (neuroserpin), member 1							116.0	115.0	116.0					3																	167508391		2203	4300	6503	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508391G>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.481+1G>A	3.37:g.167508391G>A						SERPINI1_ENST00000446050.2_Splice_Site		NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	912	+								A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37		CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576749	0.45902	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000472747	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4144	0.94689	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINI1	168991085	1.000000	0.71417	0.999000	0.59377	0.210000	0.24377	9.476000	0.97823	2.586000	0.87340	0.557000	0.71058	.		0.353	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Intron	11	13	0	0	0	1	0	11	13				
APC2	10297	broad.mit.edu	37	19	1461079	1461079	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1461079T>C	ENST00000535453.1	+	12	3278	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	APC2_ENST00000238483.4_Missense_Mutation_p.I248T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I522T			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGACATCAACAGCAAG	0.672																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1564-1566)aTc>aCc		adenomatosis polyposis coli 2							108.0	101.0	104.0					19																	1461079		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1461079T>C		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1565T>C	19.37:g.1461079T>C	ENSP00000442954:p.Ile522Thr					CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I522T|APC2_ENST00000238483.4_Missense_Mutation_p.I248T	p.I522T			O95996	APC2_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)	12	3278	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	522					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1565T>C	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971291	0.74246	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.63096	-0.02;0.84;-0.02	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.066088	0.64402	D	0.000012	T	0.61652	0.2364	N	0.25647	0.755	0.40617	D	0.981725	D;D	0.61697	0.99;0.983	P;P	0.57152	0.814;0.656	T	0.67169	-0.5738	10	0.72032	D	0.01	-25.5394	11.9673	0.53042	0.0:0.0:0.0:1.0	.	521;522	O95996-3;O95996	.;APC2_HUMAN	T	522;248;522	ENSP00000233607:I522T;ENSP00000238483:I248T;ENSP00000442954:I522T	ENSP00000233607:I522T	I	+	2	0	APC2	1412079	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.459000	0.60102	1.703000	0.51240	0.459000	0.35465	ATC		0.672	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		35	63	0	0	0	1	0	35	63				
PYROXD2	84795	broad.mit.edu	37	10	100144810	100144810	+	Silent	SNP	G	G	A	rs552656159		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:100144810G>A	ENST00000370575.4	-	15	1617	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	523							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GGGACATGGCGCAGTGGAATA	0.607																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1567-1569)tgC>tgT		pyridine nucleotide-disulphide oxidoreductase domain 2							85.0	79.0	81.0					10																	100144810		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100144810G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1569C>T	10.37:g.100144810G>A						PYROXD2_ENST00000483923.1_5'UTR	p.C523C	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			15	1617	-			523					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1569C>T	CCDS7474.1																																																																																				0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		12	25	0	0	0	1	0	12	25				
MASP2	10747	broad.mit.edu	37	1	11090891	11090891	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11090891T>C	ENST00000400897.3	-	9	1151	c.1136A>G	c.(1135-1137)tAc>tGc	p.Y379C	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	379	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACCTGTGATGTACTCCACTCG	0.458																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1135-1137)tAc>tGc		mannan-binding lectin serine peptidase 2							107.0	90.0	95.0					1																	11090891		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090891T>C	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1136A>G	1.37:g.11090891T>C	ENSP00000383690:p.Tyr379Cys						p.Y379C	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	9	1151	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	379			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1136A>G	CCDS123.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792989	0.31685	.	.	ENSG00000009724	ENST00000400897	T	0.65916	-0.18	5.38	4.24	0.50183	Complement control module (2);Sushi/SCR/CCP (3);	0.236365	0.36101	N	0.002782	T	0.77075	0.4077	M	0.86268	2.805	0.58432	D	0.999996	D	0.71674	0.998	D	0.62955	0.909	T	0.78748	-0.2083	10	0.87932	D	0	.	9.5585	0.39355	0.2805:0.0:0.0:0.7195	.	379	O00187	MASP2_HUMAN	C	379	ENSP00000383690:Y379C	ENSP00000383690:Y379C	Y	-	2	0	MASP2	11013478	0.209000	0.23505	0.002000	0.10522	0.132000	0.20833	1.374000	0.34283	0.857000	0.35407	0.459000	0.35465	TAC		0.458	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		18	20	0	0	0	1	0	18	20				
PDDC1	347862	broad.mit.edu	37	11	771350	771350	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:771350G>A	ENST00000319863.8	-	6	548	c.527C>T	c.(526-528)tCg>tTg	p.S176L	PDDC1_ENST00000442059.2_Missense_Mutation_p.S126L|PDDC1_ENST00000397472.2_Missense_Mutation_p.S176L|PDDC1_ENST00000524550.1_Missense_Mutation_p.S140L|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	176						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGCCCGAATCCTTCAC	0.697																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(526-528)tCg>tTg		Parkinson disease 7 domain containing 1							19.0	22.0	21.0					11																	771350		2194	4296	6490	SO:0001583	missense	347862					extracellular region		g.chr11:771350G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.527C>T	11.37:g.771350G>A	ENSP00000321691:p.Ser176Leu					PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.S140L|PDDC1_ENST00000397472.2_Missense_Mutation_p.S176L|PDDC1_ENST00000442059.2_Missense_Mutation_p.S126L|PDDC1_ENST00000526325.1_3'UTR	p.S176L	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	548	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	176					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.527C>T	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	G	9.723	1.160160	0.21454	.	.	ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000442059;ENST00000524550	T;T	0.80304	-1.36;-1.36	4.44	4.44	0.53790	ThiJ/PfpI (1);	0.790513	0.11726	N	0.535385	T	0.61652	0.2364	N	0.12887	0.27	0.20307	N	0.999911	P;B;P;B	0.46327	0.579;0.008;0.876;0.008	B;B;B;B	0.29598	0.104;0.008;0.09;0.008	T	0.53535	-0.8425	10	0.27785	T	0.31	-6.9201	16.198	0.82043	0.0:0.0:1.0:0.0	.	140;126;176;176	B7ZKW3;B7Z1J9;Q8NB37-2;Q8NB37	.;.;.;PDDC1_HUMAN	L	114;176;176;100;126;140	ENSP00000321691:S176L;ENSP00000397890:S126L	ENSP00000321691:S176L	S	-	2	0	PDDC1	761350	0.985000	0.35326	0.637000	0.29366	0.188000	0.23474	2.985000	0.49362	2.193000	0.70182	0.462000	0.41574	TCG		0.697	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		10	9	0	0	0	1	0	10	9				
CUTC	51076	broad.mit.edu	37	10	101499521	101499521	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101499521G>A	ENST00000370476.5	+	3	317	c.188G>A	c.(187-189)aGc>aAc	p.S63N	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	63					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ACTACACCCAGCATGGGTAAG	0.398																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(187-189)aGc>aAc		cutC copper transporter							120.0	120.0	120.0					10																	101499521		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101499521G>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.188G>A	10.37:g.101499521G>A	ENSP00000359507:p.Ser63Asn					CUTC_ENST00000493385.1_3'UTR	p.S63N	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	3	317	+		Colorectal(252;0.234)	63					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.188G>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496912	0.85069	.	.	ENSG00000119929	ENST00000370476	.	.	.	5.8	5.8	0.92144	Copper homeostasis CutC domain (2);	0.075901	0.85682	D	0.000000	D	0.85301	0.5665	M	0.92317	3.295	0.80722	D	1	D;P	0.64830	0.994;0.913	D;P	0.72075	0.976;0.728	D	0.87920	0.2703	9	0.66056	D	0.02	-2.5309	14.6241	0.68608	0.0:0.1452:0.8548:0.0	.	63;63	B4DYM2;Q9NTM9	.;CUTC_HUMAN	N	63	.	ENSP00000359507:S63N	S	+	2	0	CUTC	101489511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.374000	0.73132	2.736000	0.93811	0.591000	0.81541	AGC		0.398	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		42	53	0	0	0	1	0	42	53				
SPTAN1	6709	broad.mit.edu	37	9	131394422	131394422	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131394422T>G	ENST00000372731.4	+	52	6874	c.6764T>G	c.(6763-6765)aTc>aGc	p.I2255S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.I2260S|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.I2260S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2255					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CACCAGGAAATCCGAGCCATG	0.617																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6778-6780)aTc>aGc		spectrin, alpha, non-erythrocytic 1							28.0	28.0	28.0					9																	131394422		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131394422T>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6764T>G	9.37:g.131394422T>G	ENSP00000361816:p.Ile2255Ser					SPTAN1_ENST00000358161.5_Missense_Mutation_p.I2260S|SPTAN1_ENST00000372731.4_Missense_Mutation_p.I2255S	p.I2260S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			53	6889	+			2255					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6779T>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375557	0.82682	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.57907	0.37;0.37;0.37	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77313	2.365	0.80722	D	1	D;D;D	0.69078	0.997;0.96;0.979	D;D;P	0.64237	0.911;0.923;0.906	T	0.76228	-0.3036	10	0.87932	D	0	.	15.3351	0.74247	0.0:0.0:0.0:1.0	.	2235;2260;2255	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	S	2260;2255;2260;2235	ENSP00000350882:I2260S;ENSP00000361816:I2255S;ENSP00000361824:I2260S	ENSP00000350882:I2260S	I	+	2	0	SPTAN1	130434243	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.689000	0.84165	2.021000	0.59480	0.459000	0.35465	ATC		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		6	12	0	0	0	1	0	6	12				
CNNM2	54805	broad.mit.edu	37	10	104836887	104836887	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104836887G>C	ENST00000369878.4	+	8	2766	c.2578G>C	c.(2578-2580)Gtg>Ctg	p.V860L	CNNM2_ENST00000433628.2_Missense_Mutation_p.V838L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	860					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACAGAACTGTGTGACGCACAG	0.597																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(2578-2580)Gtg>Ctg		cyclin M2							87.0	94.0	92.0					10																	104836887		2132	4237	6369	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836887G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2578G>C	10.37:g.104836887G>C	ENSP00000358894:p.Val860Leu					CNNM2_ENST00000457502.2_Missense_Mutation_p.V618L|CNNM2_ENST00000433628.2_Missense_Mutation_p.V838L	p.V860L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2702	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	860					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2578G>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603366	0.46423	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.71817	-0.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	N	0.12182	0.205	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.73380	0.98;0.956	T	0.64093	-0.6488	10	0.08179	T	0.78	.	19.7954	0.96478	0.0:0.0:1.0:0.0	.	838;860	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	L	861;839;860;838;559	ENSP00000358894:V860L	ENSP00000286899:V838L	V	+	1	0	CNNM2	104826877	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	7.265000	0.78442	2.677000	0.91161	0.555000	0.69702	GTG		0.597	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		20	32	0	0	0	1	0	20	32				
ATF6B	1388	broad.mit.edu	37	6	32087657	32087657	+	Silent	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32087657T>G	ENST00000375203.3	-	9	942	c.910A>C	c.(910-912)Agg>Cgg	p.R304R	ATF6B_ENST00000375201.4_Silent_p.R301R	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	304					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATGCTCTTCCTCTCAGGCCGT	0.597																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(901-903)Agg>Cgg		activating transcription factor 6 beta							95.0	79.0	85.0					6																	32087657		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32087657T>G		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.910A>C	6.37:g.32087657T>G						ATF6B_ENST00000375203.3_Silent_p.R304R	p.R301R			Q99941	ATF6B_HUMAN			9	946	-			304					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.901A>C	CCDS4737.1																																																																																				0.597	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			9	19	0	0	0	1	0	9	19				
AHI1	54806	broad.mit.edu	37	6	135769461	135769461	+	Silent	SNP	G	G	A	rs370332260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135769461G>A	ENST00000367800.4	-	10	1809	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y	AHI1_ENST00000457866.2_Silent_p.Y531Y|AHI1_ENST00000327035.6_Silent_p.Y531Y	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	531					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTACAGTTACGTACAGTGTTG	0.363																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(1591-1593)taC>taT		Abelson helper integration site 1		G	,,,	1,3793		0,1,1896	117.0	107.0	111.0		1593,1593,1593,1593	0.9	1.0	6		111	1,8209		0,1,4104	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AHI1	NM_001134830.1,NM_001134831.1,NM_001134832.1,NM_017651.4	,,,	0,2,6000	AA,AG,GG		0.0122,0.0264,0.0167	,,,	531/1197,531/1197,531/1054,531/1197	135769461	2,12002	1897	4105	6002	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135769461G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1593C>T	6.37:g.135769461G>A						AHI1_ENST00000457866.2_Silent_p.Y531Y|AHI1_ENST00000327035.6_Silent_p.Y531Y	p.Y531Y	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	10	1809	-	Breast(56;0.239)|Colorectal(23;0.24)		531					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.1593C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912339	0.17907	2.64E-4	1.22E-4	ENSG00000135541	ENST00000367799	.	.	.	5.9	0.867	0.19085	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31194	-0.9952	4	.	.	.	-17.6443	8.8708	0.35314	0.6773:0.0:0.3227:0.0	.	.	.	.	M	31	.	.	T	-	2	0	AHI1	135811154	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.407000	0.34657	-0.067000	0.12976	-0.312000	0.09012	ACG		0.363	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	16	0	0	0	1	0	8	16				
SLC6A2	6530	broad.mit.edu	37	16	55729233	55729233	+	Missense_Mutation	SNP	G	G	A	rs5565		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55729233G>A	ENST00000379906.2	+	7	1321	c.1066G>A	c.(1066-1068)Gtc>Atc	p.V356I	SLC6A2_ENST00000566163.1_Missense_Mutation_p.V311I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V356I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V251I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V356I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	356			V -> L (in dbSNP:rs5565).		monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CACCAGCTTCGTCTCTGGGTT	0.552																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1066-1068)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4396		0,0,2198	191.0	130.0	150.0		1066,1066,751,1066	-1.0	1.0	16	dbSNP_52	150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	29,29,29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	356/618,356/618,251/513,356/629	55729233	1,12995	2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55729233G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1066G>A	16.37:g.55729233G>A	ENSP00000369237:p.Val356Ile					SLC6A2_ENST00000568943.1_Missense_Mutation_p.V356I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V311I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V251I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V356I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V356I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V356I	p.V356I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	7	1321	+			356		V -> L (in dbSNP:rs5565).			B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1066G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861445	0.17178	0.0	1.16E-4	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74106	-0.81;-0.81;-0.81	4.64	-1.01	0.10169	.	0.316280	0.37955	N	0.001865	T	0.41419	0.1158	N	0.03084	-0.415	0.22500	N	0.999048	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.23619	-1.0183	10	0.17369	T	0.5	.	4.7385	0.13001	0.6343:0.0:0.2322:0.1335	.	356;70;251;356	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	356;70;356;356	ENSP00000394956:V356I;ENSP00000369237:V356I;ENSP00000219833:V356I	ENSP00000219833:V356I	V	+	1	0	SLC6A2	54286734	0.978000	0.34361	0.984000	0.44739	0.865000	0.49528	0.201000	0.17276	-0.402000	0.07633	-0.157000	0.13467	GTC		0.552	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			34	32	0	0	0	1	0	34	32				
ZBED4	9889	broad.mit.edu	37	22	50279587	50279587	+	Silent	SNP	G	G	A	rs113510025	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50279587G>A	ENST00000216268.5	+	2	2754	c.2277G>A	c.(2275-2277)ccG>ccA	p.P759P		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	759						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCCCGGCCGCGCTGTGACG	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17682	0.0		0.0	False		,,,				2504	0.001					ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2275-2277)ccG>ccA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	34.0	34.0	34.0		2277	-10.9	0.0	22	dbSNP_132	34	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		759/1172	50279587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279587G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2277G>A	22.37:g.50279587G>A							p.P759P	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2754	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	759					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2277G>A	CCDS33677.1																																																																																				0.607	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	16	0	0	0	1	0	4	16				
DAGLA	747	broad.mit.edu	37	11	61511050	61511050	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61511050C>T	ENST00000257215.5	+	20	2334	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	740					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCGGAGGGGCGGCTGCTGTC	0.687																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2218-2220)Cgg>Tgg		diacylglycerol lipase, alpha							50.0	64.0	59.0					11																	61511050		2184	4226	6410	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511050C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2218C>T	11.37:g.61511050C>T	ENSP00000257215:p.Arg740Trp						p.R740W	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2334	+			740					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2218C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985767	0.35036	.	.	ENSG00000134780	ENST00000257215	T	0.25085	1.82	3.1	3.1	0.35709	.	0.128577	0.30840	N	0.008771	T	0.11836	0.0288	N	0.14661	0.345	0.37457	D	0.915062	P	0.51537	0.946	B	0.34346	0.18	T	0.15925	-1.0420	10	0.87932	D	0	-10.7692	10.4511	0.44522	0.247:0.753:0.0:0.0	.	740	Q9Y4D2	DGLA_HUMAN	W	740	ENSP00000257215:R740W	ENSP00000257215:R740W	R	+	1	2	DAGLA	61267626	0.764000	0.28473	0.978000	0.43139	0.761000	0.43186	1.510000	0.35790	2.057000	0.61298	0.484000	0.47621	CGG		0.687	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		7	97	0	0	0	1	0	7	97				
APOA4	337	broad.mit.edu	37	11	116692112	116692112	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116692112C>T	ENST00000357780.3	-	3	776	c.662G>A	c.(661-663)cGc>cAc	p.R221H		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	221	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)			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)		AGCCAGGCTGCGGCGCAGCTC	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(661-663)cGc>cAc		apolipoprotein A-IV							148.0	147.0	148.0					11																	116692112		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692112C>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.662G>A	11.37:g.116692112C>T	ENSP00000350425:p.Arg221His						p.R221H	NM_000482.3	NP_000473.2				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	776	-	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	Missense_Mutation	SNP	ENST00000357780.3	37	c.662G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723411	0.68959	.	.	ENSG00000110244	ENST00000357780	T	0.74526	-0.85	4.96	-1.15	0.09709	Apolipoprotein/apolipophorin (1);	1.271250	0.05363	N	0.533963	D	0.82733	0.5101	M	0.85373	2.75	0.09310	N	1	D	0.65815	0.995	P	0.61201	0.885	T	0.65631	-0.6121	10	0.62326	D	0.03	-8.2759	2.088	0.03650	0.1264:0.3103:0.1251:0.4382	.	221	P06727	APOA4_HUMAN	H	221	ENSP00000350425:R221H	ENSP00000350425:R221H	R	-	2	0	APOA4	116197322	0.000000	0.05858	0.984000	0.44739	0.994000	0.84299	-0.665000	0.05286	-0.095000	0.12351	0.563000	0.77884	CGC		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		61	93	0	0	0	1	0	61	93				
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154216729G>A	ENST00000437508.2	+	6	1171	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TRIM2_ENST00000338700.5_Missense_Mutation_p.V351I|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1051-1053)Gtt>Att		tripartite motif containing 2							58.0	52.0	54.0					4																	154216729		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216729G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.970G>A	4.37:g.154216729G>A	ENSP00000415812:p.Val324Ile					TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I|TRIM2_ENST00000494872.1_3'UTR	p.V351I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1116	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	324					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1051G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821247	0.32237	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84944	-1.92;-1.92	5.53	4.68	0.58851	.	0.101717	0.64402	D	0.000002	T	0.78349	0.4269	L	0.46885	1.475	0.53688	D	0.999973	P;P	0.42973	0.796;0.646	B;B	0.32090	0.14;0.071	T	0.77800	-0.2452	10	0.33141	T	0.24	-1.7556	15.9934	0.80223	0.0:0.0:0.8641:0.1359	.	351;324	D3DP09;Q9C040	.;TRIM2_HUMAN	I	324;351	ENSP00000415812:V324I;ENSP00000339659:V351I	ENSP00000339659:V351I	V	+	1	0	TRIM2	154436179	1.000000	0.71417	0.860000	0.33809	0.842000	0.47809	7.505000	0.81655	1.443000	0.47586	0.561000	0.74099	GTT		0.607	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			13	12	0	0	0	1	0	13	12				
DCST2	127579	broad.mit.edu	37	1	155005967	155005967	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155005967C>T	ENST00000368424.3	-	1	269	c.211G>A	c.(211-213)Gga>Aga	p.G71R	DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.G71R|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	71						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGAGAGAATCCCATGCCCAGG	0.662																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(211-213)Gga>Aga		DC-STAMP domain containing 2							57.0	54.0	55.0					1																	155005967		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155005967C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.211G>A	1.37:g.155005967C>T	ENSP00000357409:p.Gly71Arg					DCST2_ENST00000295536.5_Missense_Mutation_p.G71R	p.G71R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	269	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		71					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.211G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627920	0.87560	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25250	1.81;1.86	5.59	5.59	0.84812	.	0.409565	0.19556	N	0.111450	T	0.33294	0.0858	L	0.60455	1.87	0.33506	D	0.590519	D	0.58268	0.982	P	0.58172	0.834	T	0.09164	-1.0687	10	0.52906	T	0.07	-5.1469	16.4949	0.84237	0.0:1.0:0.0:0.0	.	71	Q5T1A1	DCST2_HUMAN	R	71	ENSP00000357409:G71R;ENSP00000295536:G71R	ENSP00000295536:G71R	G	-	1	0	DCST2	153272591	0.998000	0.40836	0.962000	0.40283	0.941000	0.58515	4.900000	0.63252	2.634000	0.89283	0.561000	0.74099	GGA		0.662	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		15	34	0	0	0	1	0	15	34				
ASNSD1	54529	broad.mit.edu	37	2	190531702	190531702	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190531702G>A	ENST00000260952.4	+	4	1257	c.844G>A	c.(844-846)Gta>Ata	p.V282I	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	282					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CATGAAGGAAGTAATTCAGCA	0.403																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(844-846)Gta>Ata		asparagine synthetase domain containing 1							156.0	154.0	154.0					2																	190531702		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531702G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.844G>A	2.37:g.190531702G>A	ENSP00000260952:p.Val282Ile					ASNSD1_ENST00000607062.1_Intron	p.V282I	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1257	+			282					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.844G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	1.292	-0.607348	0.03717	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.31510	1.49;1.5	5.65	-1.79	0.07932	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.783948	0.12092	N	0.500307	T	0.13970	0.0338	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.17369	T	0.5	-9.9948	2.4999	0.04630	0.3888:0.1759:0.3389:0.0965	.	282	Q9NWL6	ASND1_HUMAN	I	282	ENSP00000260952:V282I;ENSP00000406790:V282I	ENSP00000260952:V282I	V	+	1	0	ASNSD1	190239947	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.277000	0.02812	-0.227000	0.09884	-0.137000	0.14449	GTA		0.403	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		49	79	0	0	0	1	0	49	79				
THBS2	7058	broad.mit.edu	37	6	169626362	169626362	+	Silent	SNP	G	G	A	rs369239097		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:169626362G>A	ENST00000366787.3	-	17	2700	c.2451C>T	c.(2449-2451)taC>taT	p.Y817Y	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	817					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Y817Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTGTAGACGTAGGGACAAT	0.502																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			1	Substitution - coding silent(1)	p.Y817Y(1)	large_intestine(1)	NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2449-2451)taC>taT		thrombospondin 2		G		0,4406		0,0,2203	108.0	101.0	103.0		2451	-4.8	0.6	6		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		817/1173	169626362	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169626362G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2451C>T	6.37:g.169626362G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.Y817Y	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	17	2700	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	817					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2451C>T	CCDS34574.1																																																																																				0.502	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		18	33	0	0	0	1	0	18	33				
ADH1A	124	broad.mit.edu	37	4	100208060	100208060	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100208060T>A	ENST00000209668.2	-	3	319	c.206A>T	c.(205-207)gAg>gTg	p.E69V	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	69					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCGGCTGCCTCATGGCCTAA	0.502																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(205-207)gAg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						199.0	181.0	187.0					4																	100208060		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208060T>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.206A>T	4.37:g.100208060T>A	ENSP00000209668:p.Glu69Val					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.E69V	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	319	-			69					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.206A>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916993	0.73098	.	.	ENSG00000187758	ENST00000209668	T	0.19938	2.11	2.79	2.79	0.32731	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	H	0.99830	4.82	0.80722	D	1	D	0.58970	0.984	P	0.62885	0.908	T	0.77608	-0.2524	10	0.87932	D	0	-20.9372	11.187	0.48662	0.0:0.0:0.0:1.0	.	69	P07327	ADH1A_HUMAN	V	69	ENSP00000209668:E69V	ENSP00000209668:E69V	E	-	2	0	ADH1A	100427083	1.000000	0.71417	0.863000	0.33907	0.958000	0.62258	7.063000	0.76714	1.265000	0.44215	0.377000	0.23210	GAG		0.502	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		51	71	0	0	0	1	0	51	71				
PID1	55022	broad.mit.edu	37	2	229890683	229890683	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890683G>A	ENST00000354069.6	-	3	448	c.418C>T	c.(418-420)Cca>Tca	p.P140S	PID1_ENST00000392054.3_Missense_Mutation_p.P138S|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.P58S|PID1_ENST00000392055.3_Missense_Mutation_p.P107S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	140	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		ACTTGGAATGGCCGGATTTCC	0.572																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(412-414)Cca>Tca		phosphotyrosine interaction domain containing 1							98.0	94.0	96.0					2																	229890683		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890683G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.418C>T	2.37:g.229890683G>A	ENSP00000283937:p.Pro140Ser					PID1_ENST00000409462.1_Missense_Mutation_p.P58S|PID1_ENST00000392055.3_Missense_Mutation_p.P107S|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.P140S	p.P138S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	751	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	140			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.412C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.103446	0.56291	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.46	5.46	0.80206	Pleckstrin homology-type (1);	0.050037	0.85682	D	0.000000	T	0.68476	0.3005	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	T	0.64706	-0.6344	8	.	.	.	-10.5446	18.6482	0.91419	0.0:0.0:1.0:0.0	.	58;107;138;140	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	S	138;58;107;140;140	.	.	P	-	1	0	PID1	229598927	1.000000	0.71417	0.551000	0.28230	0.947000	0.59692	9.195000	0.94971	2.721000	0.93114	0.655000	0.94253	CCA		0.572	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		3	33	0	0	0	1	0	3	33				
CLOCK	9575	broad.mit.edu	37	4	56336952	56336952	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56336952C>T	ENST00000309964.4	-	7	620	c.370G>A	c.(370-372)Gca>Aca	p.A124T	CLOCK_ENST00000513440.1_Missense_Mutation_p.A124T|CLOCK_ENST00000381322.1_Missense_Mutation_p.A124T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	124	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTCATGATTGCTAAAAAAAAA	0.284																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(370-372)Gca>Aca		clock circadian regulator							90.0	95.0	93.0					4																	56336952		2200	4298	6498	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336952C>T	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.370G>A	4.37:g.56336952C>T	ENSP00000308741:p.Ala124Thr					CLOCK_ENST00000381322.1_Missense_Mutation_p.A124T|CLOCK_ENST00000513440.1_Missense_Mutation_p.A124T	p.A124T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	620	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		124			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.370G>A	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802324	0.96960	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.17054	2.3;2.3;2.3	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.51914	1.62	0.80722	D	1	B	0.29766	0.256	B	0.39617	0.305	T	0.02398	-1.1165	10	0.52906	T	0.07	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	124	O15516	CLOCK_HUMAN	T	124	ENSP00000308741:A124T;ENSP00000370723:A124T;ENSP00000426983:A124T	ENSP00000308741:A124T	A	-	1	0	CLOCK	56031709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.789000	0.95967	0.591000	0.81541	GCA		0.284	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		30	74	0	0	0	1	0	30	74				
GRIK1	2897	broad.mit.edu	37	21	30959709	30959709	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30959709G>T	ENST00000399907.1	-	12	2181	c.1770C>A	c.(1768-1770)agC>agA	p.S590R	GRIK1_ENST00000389125.3_Missense_Mutation_p.S575R|GRIK1_ENST00000327783.4_Missense_Mutation_p.S590R|GRIK1_ENST00000399914.1_Missense_Mutation_p.S575R|GRIK1_ENST00000399913.1_Missense_Mutation_p.S590R|GRIK1_ENST00000309434.7_Missense_Mutation_p.S592R|GRIK1_ENST00000399909.1_Missense_Mutation_p.S575R|GRIK1_ENST00000389124.2_Missense_Mutation_p.S590R|GRIK1_ENST00000535441.1_Missense_Mutation_p.S592R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	590					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGAGTACACAGCTGACTCCCA	0.468																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1723-1725)agC>agA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						66.0	55.0	59.0					21																	30959709		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30959709G>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1770C>A	21.37:g.30959709G>T	ENSP00000382791:p.Ser590Arg					GRIK1_ENST00000389125.3_Missense_Mutation_p.S575R|GRIK1_ENST00000399913.1_Missense_Mutation_p.S590R|GRIK1_ENST00000535441.1_Missense_Mutation_p.S592R|GRIK1_ENST00000327783.4_Missense_Mutation_p.S590R|GRIK1_ENST00000399909.1_Missense_Mutation_p.S575R|GRIK1_ENST00000389124.2_Missense_Mutation_p.S590R|GRIK1_ENST00000309434.7_Missense_Mutation_p.S592R|GRIK1_ENST00000399907.1_Missense_Mutation_p.S590R	p.S575R			P39086	GRIK1_HUMAN			11	2246	-			590					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1725C>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656332	0.67586	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.09	-5.54	0.02544	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	H	0.97587	4.035	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84802	0.0785	10	0.87932	D	0	.	14.7596	0.69596	0.478:0.0:0.522:0.0	.	575;590;575;590;575	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	R	590;575;590;575;592;451;590;590;575;592	ENSP00000327687:S590R;ENSP00000373777:S575R;ENSP00000382797:S590R;ENSP00000382798:S575R;ENSP00000446326:S592R;ENSP00000373776:S590R;ENSP00000382791:S590R;ENSP00000382793:S575R;ENSP00000311646:S592R	ENSP00000311646:S592R	S	-	3	2	GRIK1	29881580	0.977000	0.34250	0.928000	0.36995	0.994000	0.84299	0.240000	0.18042	-0.949000	0.03663	-0.238000	0.12139	AGC		0.468	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	8	1	0	3.59834e-05	1	3.7043e-05	6	8				
PACS1	55690	broad.mit.edu	37	11	65960985	65960985	+	Missense_Mutation	SNP	G	G	A	rs115491121	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65960985G>A	ENST00000320580.4	+	2	418	c.385G>A	c.(385-387)Gtc>Atc	p.V129I		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	129					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAAGAAACTCGTCATGCTAAA	0.463													G|||	3	0.000599042	0.0	0.0	5008	,	,		22927	0.003		0.0	False		,,,				2504	0.0					ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(385-387)Gtc>Atc		phosphofurin acidic cluster sorting protein 1							105.0	88.0	94.0					11																	65960985		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65960985G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.385G>A	11.37:g.65960985G>A	ENSP00000316454:p.Val129Ile						p.V129I	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			2	418	+			129					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.385G>A	CCDS8129.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.32	2.202972	0.38905	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.23348	1.91	4.88	2.99	0.34606	.	0.445650	0.23879	N	0.043673	T	0.15305	0.0369	L	0.33245	0.995	0.80722	D	1	B;B	0.27951	0.004;0.195	B;B	0.15484	0.001;0.013	T	0.07290	-1.0780	10	0.38643	T	0.18	-22.5368	5.9938	0.19483	0.2919:0.0:0.7081:0.0	.	129;129	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	I	129;26;31	ENSP00000316454:V129I	ENSP00000316454:V129I	V	+	1	0	PACS1	65717561	0.310000	0.24527	0.755000	0.31263	0.980000	0.70556	0.741000	0.26202	1.051000	0.40369	-0.140000	0.14226	GTC		0.463	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		13	25	0	0	0	1	0	13	25				
PDZRN3	23024	broad.mit.edu	37	3	73433545	73433545	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73433545G>A	ENST00000263666.4	-	10	2286	c.2172C>T	c.(2170-2172)agC>agT	p.S724S	PDZRN3_ENST00000479530.1_Silent_p.S441S|PDZRN3_ENST00000535920.1_Silent_p.S446S|PDZRN3_ENST00000462146.2_Silent_p.S381S|PDZRN3_ENST00000466780.1_Silent_p.S381S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	724					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCGGAAGCCGCTGTTGTGCA	0.607																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2170-2172)agC>agT		PDZ domain containing ring finger 3							46.0	41.0	43.0					3																	73433545		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433545G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2172C>T	3.37:g.73433545G>A						PDZRN3_ENST00000535920.1_Silent_p.S446S|PDZRN3_ENST00000462146.2_Silent_p.S381S|PDZRN3_ENST00000466780.1_Silent_p.S381S|PDZRN3_ENST00000479530.1_Silent_p.S441S	p.S724S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2286	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	724					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2172C>T	CCDS33789.1																																																																																				0.607	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		16	33	0	0	0	1	0	16	33				
MN1	4330	broad.mit.edu	37	22	28146975	28146975	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:28146975G>A	ENST00000302326.4	-	2	4845	c.3891C>T	c.(3889-3891)tcC>tcT	p.S1297S	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1297					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGGTGGGCACGGAGGCTCGAG	0.582			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(3889-3891)tcC>tcT		meningioma (disrupted in balanced translocation) 1							72.0	81.0	78.0					22																	28146975		2065	4203	6268	SO:0001819	synonymous_variant	4330						binding	g.chr22:28146975G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3891C>T	22.37:g.28146975G>A						MN1_ENST00000497225.1_5'UTR	p.S1297S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			2	4845	-			1297					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3891C>T	CCDS42998.1																																																																																				0.582	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		16	22	0	0	0	1	0	16	22				
ATG2B	55102	broad.mit.edu	37	14	96768374	96768374	+	Silent	SNP	C	C	T	rs368514043		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96768374C>T	ENST00000359933.4	-	34	6002	c.5109G>A	c.(5107-5109)tcG>tcA	p.S1703S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1703					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCGGCATCAGCGACACTCTCA	0.458																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5107-5109)tcG>tcA		autophagy related 2B		C		0,4406		0,0,2203	88.0	75.0	80.0		5109	-11.5	0.1	14		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATG2B	NM_018036.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1703/2079	96768374	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55102							g.chr14:96768374C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5109G>A	14.37:g.96768374C>T						ATG2B_ENST00000261834.5_5'UTR	p.S1703S	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	34	6002	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1703					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.5109G>A	CCDS9944.2																																																																																				0.458	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		9	25	0	0	0	1	0	9	25				
ARPP21	10777	broad.mit.edu	37	3	35770907	35770907	+	Silent	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:35770907G>C	ENST00000187397.4	+	15	1794	c.1338G>C	c.(1336-1338)gtG>gtC	p.V446V	ARPP21_ENST00000337271.5_Silent_p.V392V|ARPP21_ENST00000458225.1_Silent_p.V412V|ARPP21_ENST00000444190.1_Silent_p.V392V|ARPP21_ENST00000417925.1_Silent_p.V412V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	446					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGGCTGTGTGCCTTATCCAG	0.607																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1336-1338)gtG>gtC		cAMP-regulated phosphoprotein, 21kDa							62.0	59.0	60.0					3																	35770907		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35770907G>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1338G>C	3.37:g.35770907G>C						ARPP21_ENST00000444190.1_Silent_p.V392V|ARPP21_ENST00000337271.5_Silent_p.V392V|ARPP21_ENST00000417925.1_Silent_p.V412V|ARPP21_ENST00000458225.1_Silent_p.V412V	p.V446V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			15	1794	+			446					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1338G>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805892	0.16467	.	.	ENSG00000172995	ENST00000425289	.	.	.	6.06	3.27	0.37495	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.28036	N	0.933958	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	-3.4075	10.3239	0.43781	0.0626:0.0:0.6941:0.2433	.	.	.	.	P	219	.	.	A	+	1	0	ARPP21	35745911	0.729000	0.28090	0.931000	0.37212	0.976000	0.68499	0.383000	0.20651	0.418000	0.25898	-0.188000	0.12872	GCC		0.607	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	24	0	0	0	1	0	9	24				
C5orf42	65250	broad.mit.edu	37	5	37183047	37183047	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37183047G>A	ENST00000508244.1	-	25	5329	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	C5orf42_ENST00000425232.2_Silent_p.L1746L|C5orf42_ENST00000274258.7_Silent_p.L627L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1746						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CATTCCAGCAGTCTTCCTATA	0.378																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(1879-1881)Ctg>Ttg		chromosome 5 open reading frame 42							110.0	105.0	107.0					5																	37183047		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37183047G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5236C>T	5.37:g.37183047G>A						C5orf42_ENST00000508244.1_Silent_p.L1746L|C5orf42_ENST00000425232.2_Silent_p.L1746L	p.L627L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	5466	-	all_lung(31;0.000616)		1746					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.1879C>T	CCDS34146.2																																																																																				0.378	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		14	61	0	0	0	1	0	14	61				
NUP210L	91181	broad.mit.edu	37	1	154099885	154099885	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154099885C>T	ENST00000368559.3	-	9	1158	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	NUP210L_ENST00000271854.3_Missense_Mutation_p.V363I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	363					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGGTTGGACAGTGAAACCT	0.348																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1087-1089)Gtc>Atc		nucleoporin 210kDa-like							71.0	65.0	67.0					1																	154099885		1821	4082	5903	SO:0001583	missense	91181					integral to membrane		g.chr1:154099885C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1087G>A	1.37:g.154099885C>T	ENSP00000357547:p.Val363Ile					NUP210L_ENST00000271854.3_Missense_Mutation_p.V363I	p.V363I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		9	1158	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		363					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1087G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	8.114	0.779432	0.16120	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05580	3.42;3.42	4.65	0.213	0.15244	.	0.688594	0.12525	N	0.461304	T	0.00754	0.0025	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.004;0.003	T	0.47222	-0.9134	10	0.02654	T	1	-2.7633	7.9926	0.30250	0.0:0.6524:0.0:0.3476	.	363;363	E7EP56;Q5VU65	.;P210L_HUMAN	I	363	ENSP00000357547:V363I;ENSP00000271854:V363I	ENSP00000271854:V363I	V	-	1	0	NUP210L	152366509	0.094000	0.21725	0.004000	0.12327	0.909000	0.53808	0.084000	0.14891	-0.126000	0.11682	0.313000	0.20887	GTC		0.348	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		14	29	0	0	0	1	0	14	29				
CLEC16A	23274	broad.mit.edu	37	16	11118704	11118704	+	Missense_Mutation	SNP	C	C	T	rs201921390		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11118704C>T	ENST00000409790.1	+	13	1693	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.A470V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGTACCACGCGCTGGACAGC	0.537																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1462-1464)gCg>gTg		C-type lectin domain family 16, member A		C	VAL/ALA	0,4210		0,0,2105	79.0	82.0	81.0		1463	5.3	1.0	16		81	1,8459		0,1,4229	no	missense	CLEC16A	NM_015226.2	64	0,1,6334	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	488/1054	11118704	1,12669	2105	4230	6335	SO:0001583	missense	23274							g.chr16:11118704C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1463C>T	16.37:g.11118704C>T	ENSP00000387122:p.Ala488Val					CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.A470V	p.A488V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			13	1693	+			488						Missense_Mutation	SNP	ENST00000409790.1	37	c.1463C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530052	0.85706	0.0	1.18E-4	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.52983	0.64	5.33	5.33	0.75918	.	0.143147	0.64402	D	0.000005	T	0.50257	0.1605	M	0.73962	2.25	0.80722	D	1	D;P	0.53745	0.962;0.931	B;B	0.42062	0.348;0.374	T	0.57694	-0.7767	10	0.49607	T	0.09	-25.6548	14.9033	0.70696	0.0:1.0:0.0:0.0	.	488;470	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	V	488;488;470	ENSP00000387122:A488V	ENSP00000386495:A470V	A	+	2	0	CLEC16A	11026205	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	6.690000	0.74567	2.652000	0.90054	0.655000	0.94253	GCG		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		3	9	0	0	0	1	0	3	9				
GPR179	440435	broad.mit.edu	37	17	36484378	36484378	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36484378C>T	ENST00000342292.4	-	11	5094	c.5074G>A	c.(5074-5076)Gat>Aat	p.D1692N	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1692					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTCCACATCCAAAGGGCAA	0.562																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5074-5076)Gat>Aat		G protein-coupled receptor 179							98.0	97.0	98.0					17																	36484378		1947	4143	6090	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484378C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5074G>A	17.37:g.36484378C>T	ENSP00000345060:p.Asp1692Asn					GPR179_ENST00000584976.1_5'UTR	p.D1692N	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5094	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1692						Missense_Mutation	SNP	ENST00000342292.4	37	c.5074G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020832	0.93462	.	.	ENSG00000188888	ENST00000342292	T	0.55413	0.52	5.04	5.04	0.67666	.	0.393764	0.21623	N	0.071610	T	0.63861	0.2547	L	0.51422	1.61	0.41590	D	0.988793	D	0.71674	0.998	P	0.59546	0.859	T	0.66586	-0.5886	10	0.72032	D	0.01	-3.1755	15.4115	0.74929	0.0:1.0:0.0:0.0	.	1692	Q6PRD1	GP179_HUMAN	N	1692	ENSP00000345060:D1692N	ENSP00000345060:D1692N	D	-	1	0	GPR179	33737904	1.000000	0.71417	0.986000	0.45419	0.050000	0.14768	3.384000	0.52478	2.605000	0.88082	0.655000	0.94253	GAT		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	86	0	0	0	1	0	4	86				
SCAF1	58506	broad.mit.edu	37	19	50154651	50154651	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50154651G>A	ENST00000360565.3	+	7	1129	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	335					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCTGGAACGCCGCCCCAGG	0.701																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1003-1005)acG>acA		SR-related CTD-associated factor 1							15.0	16.0	16.0					19																	50154651		2192	4290	6482	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154651G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1005G>A	19.37:g.50154651G>A							p.T335T	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1129	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	335					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.1005G>A	CCDS33074.1																																																																																				0.701	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	8	0	0	0	1	0	3	8				
COL18A1	80781	broad.mit.edu	37	21	46888394	46888394	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46888394G>A	ENST00000359759.4	+	2	1611	c.1590G>A	c.(1588-1590)gcG>gcA	p.A530A	COL18A1_ENST00000400337.2_Silent_p.A115A|COL18A1_ENST00000355480.5_Silent_p.A295A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	530	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGACTCGGCGCAGGCCATGG	0.632																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1588-1590)gcG>gcA		collagen, type XVIII, alpha 1							70.0	83.0	78.0					21																	46888394		2151	4250	6401	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888394G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1590G>A	21.37:g.46888394G>A						COL18A1_ENST00000400337.2_Silent_p.A115A|COL18A1_ENST00000355480.5_Silent_p.A295A	p.A530A			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1611	+			530			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1590G>A																																																																																					0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			23	8	0	0	0	1	0	23	8				
NBPF10	100132406	broad.mit.edu	37	1	145293504	145293504	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145293504G>T	ENST00000369339.3	+	3	352	c.99G>T	c.(97-99)caG>caT	p.Q33H	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q33H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	304						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAAACAGCAGTTCAGAA	0.488																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(97-99)caG>caT		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293504G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.99G>T	1.37:g.145293504G>T	ENSP00000358345:p.Gln33His					NBPF10_ENST00000369339.2_Missense_Mutation_p.Q33H|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.Q33H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	134	+	all_hematologic(923;0.032)		33					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.99G>T		.	.	.	.	.	.	.	.	.	.	.	11.74	1.727700	0.30593	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03689	3.84	1.06	1.06	0.20224	.	.	.	.	.	T	0.05135	0.0137	M	0.84326	2.69	0.09310	N	1	D	0.58620	0.983	P	0.54856	0.762	T	0.22661	-1.0210	9	0.87932	D	0	.	5.5112	0.16882	0.0:0.0:1.0:0.0	.	33	A8MQ30	.	H	33	ENSP00000345684:Q33H	ENSP00000345684:Q33H	Q	+	3	2	NBPF10	144004861	0.016000	0.18221	0.002000	0.10522	0.018000	0.09664	0.957000	0.29215	0.869000	0.35703	0.184000	0.17185	CAG		0.488	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		77	540	1	0	1.68508e-47	1	1.89485e-47	77	540				
REPS1	85021	broad.mit.edu	37	6	139266738	139266738	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139266738G>A	ENST00000450536.2	-	3	948	c.374C>T	c.(373-375)tCg>tTg	p.S125L	REPS1_ENST00000367663.4_Missense_Mutation_p.S125L|REPS1_ENST00000415951.2_Missense_Mutation_p.S125L|REPS1_ENST00000258062.5_Missense_Mutation_p.S125L|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000409812.2_Missense_Mutation_p.S125L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	125					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ACCAGAATACGACCCTTGATT	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(373-375)tCg>tTg		RALBP1 associated Eps domain containing 1							138.0	132.0	134.0					6																	139266738		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266738G>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.374C>T	6.37:g.139266738G>A	ENSP00000392065:p.Ser125Leu					REPS1_ENST00000409812.2_Missense_Mutation_p.S125L|REPS1_ENST00000415951.2_Missense_Mutation_p.S125L|REPS1_ENST00000367663.4_Missense_Mutation_p.S125L|REPS1_ENST00000258062.5_Missense_Mutation_p.S125L	p.S125L			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	948	-			125					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.374C>T		.	.	.	.	.	.	.	.	.	.	G	12.59	1.982629	0.34942	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.30981	1.51;1.55;1.51;1.55;1.51;1.55	5.56	5.56	0.83823	.	0.237622	0.44902	D	0.000403	T	0.08492	0.0211	N	0.14661	0.345	0.33579	D	0.599563	B;B;B;B	0.14012	0.001;0.009;0.001;0.005	B;B;B;B	0.12156	0.002;0.007;0.001;0.003	T	0.08249	-1.0731	10	0.09590	T	0.72	-11.2856	17.7013	0.88295	0.0:0.0:1.0:0.0	.	125;125;125;125	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	L	125;125;111;125;125;125;73	ENSP00000392065:S125L;ENSP00000356635:S125L;ENSP00000434251:S111L;ENSP00000386699:S125L;ENSP00000258062:S125L;ENSP00000397941:S125L	ENSP00000258062:S125L	S	-	2	0	REPS1	139308431	0.961000	0.32948	0.546000	0.28166	0.824000	0.46624	4.716000	0.61916	2.614000	0.88457	0.650000	0.86243	TCG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			74	92	0	0	0	1	0	74	92				
HECTD1	25831	broad.mit.edu	37	14	31578798	31578798	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31578798T>C	ENST00000399332.1	-	36	6773	c.6285A>G	c.(6283-6285)atA>atG	p.I2095M	HECTD1_ENST00000553700.1_Missense_Mutation_p.I2095M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2095	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTAACCATACTATTGCTCTGA	0.418																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6283-6285)atA>atG		HECT domain containing E3 ubiquitin protein ligase 1							56.0	55.0	55.0					14																	31578798		1931	4148	6079	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31578798T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6285A>G	14.37:g.31578798T>C	ENSP00000382269:p.Ile2095Met					HECTD1_ENST00000553700.1_Missense_Mutation_p.I2095M	p.I2095M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	36	6773	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2095			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6285A>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.031103|3.031103	0.54790|0.54790	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.10860|.	2.83;2.83|.	5.56|5.56	1.61|1.61	0.23674|0.23674	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.43765|.	0.1262|.	L|L	0.35542|0.35542	1.07|1.07	0.51482|0.51482	D|D	0.999929|0.999929	P|.	0.44578|.	0.838|.	B|.	0.41813|.	0.367|.	T|.	0.13980|.	-1.0489|.	10|.	0.32370|.	T|.	0.25|.	-15.3113|-15.3113	7.5579|7.5579	0.27835|0.27835	0.4626:0.0:0.111:0.4264|0.4626:0.0:0.111:0.4264	.|.	2095|.	Q9ULT8|.	HECD1_HUMAN|.	M|W	2095;2097;2095|461	ENSP00000450697:I2095M;ENSP00000382269:I2095M|.	ENSP00000261312:I2097M|.	I|X	-|-	3|2	3|0	HECTD1|HECTD1	30648549|30648549	0.889000|0.889000	0.30405|0.30405	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	-0.072000|-0.072000	0.11486|0.11486	0.368000|0.368000	0.24481|0.24481	-0.710000|-0.710000	0.03640|0.03640	ATA|TAG		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			12	12	0	0	0	1	0	12	12				
AFG3L2	10939	broad.mit.edu	37	18	12351345	12351345	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:12351345C>T	ENST00000269143.3	-	11	1617	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	462					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTAAGCAGCGCGGGGTCCA	0.463																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1384-1386)gcG>gcA		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						74.0	69.0	71.0					18																	12351345		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351345C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1386G>A	18.37:g.12351345C>T							p.A462A	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			11	1617	-			462					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1386G>A	CCDS11859.1																																																																																				0.463	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		11	26	0	0	0	1	0	11	26				
GNPTAB	79158	broad.mit.edu	37	12	102158675	102158675	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102158675G>A	ENST00000299314.7	-	13	2282	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	674					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCGGGAAGCGTTTTTCTTTG	0.418																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2020-2022)Cgc>Tgc		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							69.0	70.0	70.0					12																	102158675		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158675G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2020C>T	12.37:g.102158675G>A	ENSP00000299314:p.Arg674Cys						p.R674C	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2282	-			674					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2020C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738367	0.69304	.	.	ENSG00000111670	ENST00000299314	D	0.97209	-4.29	5.96	5.96	0.96718	.	0.220091	0.49305	D	0.000149	D	0.96716	0.8928	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.54706	0.759	D	0.97000	0.9728	10	0.72032	D	0.01	-16.9783	20.422	0.99049	0.0:0.0:1.0:0.0	.	674	Q3T906	GNPTA_HUMAN	C	674	ENSP00000299314:R674C	ENSP00000299314:R674C	R	-	1	0	GNPTAB	100682806	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	9.117000	0.94347	2.832000	0.97577	0.655000	0.94253	CGC		0.418	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			17	67	0	0	0	1	0	17	67				
FOXN4	121643	broad.mit.edu	37	12	109723126	109723126	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109723126C>T	ENST00000299162.5	-	8	988	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	FOXN4_ENST00000355216.1_Missense_Mutation_p.R115Q	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	295					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GGCCATACTCCGGTGGATGGC	0.627																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(883-885)cGg>cAg		forkhead box N4							56.0	43.0	48.0					12																	109723126		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723126C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.884G>A	12.37:g.109723126C>T	ENSP00000299162:p.Arg295Gln					FOXN4_ENST00000355216.1_Missense_Mutation_p.R115Q	p.R295Q	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			8	988	-			295					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.884G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944529	0.92593	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95342	-3.68;-3.31	4.63	4.63	0.57726	.	0.426528	0.26062	N	0.026566	D	0.96269	0.8783	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.976	D;P	0.64595	0.927;0.534	D	0.95503	0.8579	10	0.35671	T	0.21	-6.3013	16.8514	0.85995	0.0:1.0:0.0:0.0	.	295;295	A6H901;Q96NZ1	.;FOXN4_HUMAN	Q	115;295	ENSP00000347354:R115Q;ENSP00000299162:R295Q	ENSP00000299162:R295Q	R	-	2	0	FOXN4	108207509	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	6.016000	0.70798	2.290000	0.77057	0.561000	0.74099	CGG		0.627	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		3	10	0	0	0	1	0	3	10				
SCUBE3	222663	broad.mit.edu	37	6	35212573	35212573	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35212573G>A	ENST00000274938.7	+	18	2386	c.2386G>A	c.(2386-2388)Gtg>Atg	p.V796M	SCUBE3_ENST00000394681.1_Missense_Mutation_p.V812M	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTCTACCAGTGTGGCCCAATG	0.557																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2386-2388)Gtg>Atg		signal peptide, CUB domain, EGF-like 3							127.0	120.0	122.0					6																	35212573		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35212573G>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2386G>A	6.37:g.35212573G>A	ENSP00000274938:p.Val796Met					SCUBE3_ENST00000394681.1_Missense_Mutation_p.V812M	p.V796M	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			18	2386	+			796						Missense_Mutation	SNP	ENST00000274938.7	37	c.2386G>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281186	0.80692	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.15952	2.38;2.38	5.48	4.59	0.56863	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.79475	2.455	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.36089	-0.9762	10	0.66056	D	0.02	.	16.3553	0.83233	0.0:0.1323:0.8677:0.0	.	812;796	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	M	812;796	ENSP00000378174:V812M;ENSP00000274938:V796M	ENSP00000274938:V796M	V	+	1	0	SCUBE3	35320551	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.700000	0.74619	1.386000	0.46466	0.655000	0.94253	GTG		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		38	57	0	0	0	1	0	38	57				
EMCN	51705	broad.mit.edu	37	4	101386659	101386659	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:101386659G>T	ENST00000296420.4	-	4	475	c.297C>A	c.(295-297)gaC>gaA	p.D99E	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Missense_Mutation_p.D99E|EMCN_ENST00000305864.3_Missense_Mutation_p.D99E	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	99	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAATGATGGAGTCATTCTTCC	0.353																																						ENST00000296420.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(295-297)gaC>gaA		endomucin							185.0	163.0	171.0					4																	101386659		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101386659G>T	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.297C>A	4.37:g.101386659G>T	ENSP00000296420:p.Asp99Glu					EMCN_ENST00000511970.1_Missense_Mutation_p.D99E|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.D99E	p.D99E	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	4	475	-			99			Thr-rich.		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.297C>A	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.082634	0.00035	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000506300;ENST00000511970;ENST00000502569	.	.	.	3.93	-5.48	0.02592	.	0.255416	0.20563	N	0.089873	T	0.05823	0.0152	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22347	-1.0219	9	0.02654	T	1	-0.0045	1.5191	0.02512	0.2109:0.2363:0.1048:0.4481	.	99;99;99	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	E	99;99;26;99;99	.	ENSP00000296420:D99E	D	-	3	2	EMCN	101605682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.857000	0.04286	-1.982000	0.00988	-0.824000	0.03097	GAC		0.353	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		24	28	1	0	4.72057e-08	1	4.96844e-08	24	28				
PAN2	9924	broad.mit.edu	37	12	56716848	56716848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56716848G>A	ENST00000425394.2	-	17	2879	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q831*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q834*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q835*	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	160					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCAACAACCTGCATCTCATCC	0.483																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2503-2505)Cag>Tag		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							131.0	132.0	131.0					12																	56716848		2203	4300	6503	SO:0001587	stop_gained	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716848G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2503C>T	12.37:g.56716848G>A	ENSP00000401721:p.Gln835*					PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q835*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q834*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q831*	p.Q835*	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			17	2879	-			835						Nonsense_Mutation	SNP	ENST00000425394.2	37	c.2503C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	38	7.210556	0.98136	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	4.74	4.74	0.60224	.	0.703897	0.13300	N	0.398327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.7486	13.4347	0.61077	0.0:0.0:1.0:0.0	.	.	.	.	X	835;831;834;835	.	ENSP00000257931:Q834X	Q	-	1	0	PAN2	55003115	0.962000	0.33011	1.000000	0.80357	0.542000	0.35054	1.395000	0.34520	2.650000	0.89964	0.555000	0.69702	CAG		0.483	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		14	41	0	0	0	1	0	14	41				
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129455510C>T	ENST00000373474.4	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217W			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(649-651)Cgg>Tgg		LIM homeobox transcription factor 1, beta							37.0	39.0	38.0					9																	129455510		2202	4300	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455510C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.649C>T	9.37:g.129455510C>T	ENSP00000362573:p.Arg217Trp					LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W	p.R217W	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			4	656	+			194					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.649C>T	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279243	0.59758	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.96011	-1.12;-1.12;-3.88;-1.12	4.97	-1.69	0.08186	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	L	0.51422	1.61	0.53688	D	0.999971	D;D;D	0.89917	0.997;0.998;1.0	P;P;D	0.68483	0.881;0.849;0.958	D	0.94502	0.7710	10	0.87932	D	0	.	15.8126	0.78576	0.6922:0.3078:0.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	W	217;217;217;194	ENSP00000436930:R217W;ENSP00000362573:R217W;ENSP00000347684:R217W;ENSP00000390923:R194W	ENSP00000347684:R217W	R	+	1	2	LMX1B	128495331	0.003000	0.15002	0.077000	0.20336	0.916000	0.54674	0.098000	0.15189	-0.133000	0.11537	-1.797000	0.00622	CGG		0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			4	4	0	0	0	1	0	4	4				
SCRIB	23513	broad.mit.edu	37	8	144895096	144895096	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144895096G>A	ENST00000320476.3	-	8	684	c.678C>T	c.(676-678)gaC>gaT	p.D226D	SCRIB_ENST00000356994.2_Silent_p.D226D|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.D145D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	226	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTTCCGACACGTCCAGGCACA	0.692																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(676-678)gaC>gaT		scribbled planar cell polarity protein							33.0	33.0	33.0					8																	144895096		2200	4298	6498	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895096G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.678C>T	8.37:g.144895096G>A						SCRIB_ENST00000377533.3_Silent_p.D145D|SCRIB_ENST00000320476.3_Silent_p.D226D	p.D226D	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	684	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		226			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.678C>T	CCDS6411.1																																																																																				0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	10	0	0	0	1	0	5	10				
TNRC6B	23112	broad.mit.edu	37	22	40711437	40711437	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40711437C>A	ENST00000454349.2	+	20	5040	c.4829C>A	c.(4828-4830)cCa>cAa	p.P1610Q	TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1500Q|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P806Q|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P806Q	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1610	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AACCCCAAACCATCATCTCCC	0.582																																						ENST00000454349.2																			0				breast(1)	1						c.(4828-4830)cCa>cAa		trinucleotide repeat containing 6B							60.0	63.0	62.0					22																	40711437		2069	4191	6260	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711437C>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4829C>A	22.37:g.40711437C>A	ENSP00000401946:p.Pro1610Gln					TNRC6B_ENST00000402203.1_Missense_Mutation_p.P806Q|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P806Q|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1500Q	p.P1610Q	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			20	5040	+			1610					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4829C>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.877179|4.877179	0.91664|0.91664	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.|T;T;T;T	.|0.33438	.|1.41;1.41;2.63;2.65	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.275476	.|0.41605	.|D	.|0.000845	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.14661|0.14661	0.345|0.345	0.46078|0.46078	D|D	0.998851|0.998851	.|D;B;B;P	.|0.55800	.|0.973;0.001;0.001;0.773	.|P;B;B;P	.|0.49047	.|0.599;0.001;0.006;0.491	T|T	0.05733|0.05733	-1.0867|-1.0867	5|10	.|0.59425	.|D	.|0.04	-2.7127|-2.7127	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1610;1500;1500;806	.|Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	.|TNR6B_HUMAN;.;.;.	N|Q	1296|806;806;1610;1500;1500	.|ENSP00000306759:P806Q;ENSP00000384795:P806Q;ENSP00000401946:P1610Q;ENSP00000338371:P1500Q	.|ENSP00000306759:P806Q	H|P	+|+	1|2	0|0	TNRC6B|TNRC6B	39041383|39041383	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	4.864000|4.864000	0.62990|0.62990	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAT|CCA		0.582	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				15	33	1	0	1.3612e-06	1	1.41782e-06	15	33				
SUCLG1	8802	broad.mit.edu	37	2	84660507	84660507	+	Silent	SNP	C	C	T	rs202087262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:84660507C>T	ENST00000393868.2	-	6	852	c.642G>A	c.(640-642)acG>acA	p.T214T	SUCLG1_ENST00000491123.1_5'Flank	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	214					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATCCAACTTGCGTTGTTTGGT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		18120	0.0		0.001	False		,,,				2504	0.0				Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(640-642)acG>acA		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						80.0	72.0	75.0					2																	84660507		2203	4300	6503	SO:0001819	synonymous_variant	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84660507C>T	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.642G>A	2.37:g.84660507C>T							p.T214T	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			6	852	-			214					Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	c.642G>A	CCDS1967.2																																																																																				0.378	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		11	12	0	0	0	1	0	11	12				
COPG1	22820	broad.mit.edu	37	3	128971754	128971754	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128971754G>T	ENST00000314797.6	+	5	383	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	93					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TGACCATCAAGGAGATGTCTT	0.532																																						ENST00000314797.6																			0											c.(277-279)aaG>aaT		coatomer protein complex, subunit gamma 1							189.0	162.0	171.0					3																	128971754		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128971754G>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.279G>T	3.37:g.128971754G>T	ENSP00000325002:p.Lys93Asn						p.K93N	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			5	383	+			93					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.279G>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920745	0.73213	.	.	ENSG00000181789	ENST00000314797	T	0.27402	1.67	5.07	3.27	0.37495	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.89658	3.05	0.52099	D	0.999944	D	0.62365	0.991	D	0.76071	0.987	T	0.60969	-0.7157	10	0.59425	D	0.04	-4.6629	9.4329	0.38622	0.1747:0.0:0.8253:0.0	.	93	Q9Y678	COPG_HUMAN	N	93	ENSP00000325002:K93N	ENSP00000325002:K93N	K	+	3	2	COPG	130454444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.782000	0.38654	0.554000	0.29061	0.491000	0.48974	AAG		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		38	47	1	0	1.30998e-17	1	1.4425e-17	38	47				
ZNF184	7738	broad.mit.edu	37	6	27420267	27420267	+	Silent	SNP	C	C	T	rs374733457		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27420267C>T	ENST00000211936.6	-	6	1355	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	ZNF184_ENST00000377419.1_Silent_p.T357T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	357					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.T357T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCTCCCGTATGAATTT	0.378																																						ENST00000211936.6																			1	Substitution - coding silent(1)	p.T357T(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1069-1071)acG>acA		zinc finger protein 184		T		1,4405	819.0+/-416.3	0,1,2202	51.0	51.0	51.0		1071	-0.4	1.0	6		51	0,8600		0,0,4300	no	coding-synonymous	ZNF184	NM_007149.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		357/752	27420267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420267C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1071G>A	6.37:g.27420267C>T						ZNF184_ENST00000377419.1_Silent_p.T357T	p.T357T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1355	-			357					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.1071G>A	CCDS4624.1																																																																																				0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		32	45	0	0	0	1	0	32	45				
CCDC65	85478	broad.mit.edu	37	12	49314997	49314997	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49314997A>G	ENST00000320516.4	+	8	1414	c.1226A>G	c.(1225-1227)aAc>aGc	p.N409S	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.N409S	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	409										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAAAGGTACAACAAAGTGAAA	0.498																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1225-1227)aAc>aGc		coiled-coil domain containing 65							58.0	53.0	55.0					12																	49314997		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49314997A>G		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1226A>G	12.37:g.49314997A>G	ENSP00000312706:p.Asn409Ser					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.N409S	p.N409S			Q8IXS2	CCD65_HUMAN			8	1453	+			409					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.1226A>G	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371212	0.82573	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.02472	4.28;4.28;4.28	5.65	5.65	0.86999	.	0.045321	0.85682	D	0.000000	T	0.17534	0.0421	M	0.85630	2.765	0.51233	D	0.999911	D	0.89917	1.0	D	0.85130	0.997	T	0.00327	-1.1814	10	0.48119	T	0.1	-31.2251	15.1644	0.72811	1.0:0.0:0.0:0.0	.	409	Q8IXS2	CCD65_HUMAN	S	409;306;409	ENSP00000266984:N409S;ENSP00000446569:N306S;ENSP00000312706:N409S	ENSP00000266984:N409S	N	+	2	0	CCDC65	47601264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.288000	0.76882	0.482000	0.46254	AAC		0.498	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		4	27	0	0	0	1	0	4	27				
IL16	3603	broad.mit.edu	37	15	81552188	81552188	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81552188G>A	ENST00000302987.4	+	2	388	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	IL16_ENST00000394660.2_Missense_Mutation_p.A130T			Q14005	IL16_HUMAN	interleukin 16	130					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTTCCTAAAGCCTGCCACCA	0.468																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(388-390)Gcc>Acc		interleukin 16							75.0	76.0	76.0					15																	81552188		1921	4122	6043	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81552188G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.388G>A	15.37:g.81552188G>A	ENSP00000302935:p.Ala130Thr					IL16_ENST00000302987.4_Missense_Mutation_p.A130T	p.A130T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			3	748	+			130					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.388G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	9.077	0.998253	0.19043	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.11495	2.78;2.77	4.52	1.4	0.22301	.	0.395446	0.18522	N	0.138753	T	0.08088	0.0202	L	0.38838	1.175	0.43021	D	0.994571	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.18178	-1.0345	10	0.37606	T	0.19	.	7.4735	0.27363	0.325:0.0:0.675:0.0	.	130;130	Q14005;Q14005-2	IL16_HUMAN;.	T	130	ENSP00000378155:A130T;ENSP00000302935:A130T	ENSP00000302935:A130T	A	+	1	0	IL16	79339243	1.000000	0.71417	0.307000	0.25127	0.603000	0.37013	1.691000	0.37721	0.534000	0.28695	-0.244000	0.11960	GCC		0.468	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		30	53	0	0	0	1	0	30	53				
RAB40C	57799	broad.mit.edu	37	16	676092	676092	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:676092G>A	ENST00000248139.3	+	5	739	c.536G>A	c.(535-537)gGc>gAc	p.G179D	RAB40C_ENST00000539661.1_Missense_Mutation_p.G179D|RAB40C_ENST00000535977.1_Missense_Mutation_p.G179D|RAB40C_ENST00000538492.1_Missense_Mutation_p.G179D	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	179	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ATGCGGCACGGCATGGAGAAG	0.627																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(535-537)gGc>gAc		RAB40C, member RAS oncogene family							83.0	73.0	76.0					16																	676092		2201	4300	6501	SO:0001583	missense	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:676092G>A	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.536G>A	16.37:g.676092G>A	ENSP00000248139:p.Gly179Asp					RAB40C_ENST00000248139.3_Missense_Mutation_p.G179D|RAB40C_ENST00000539661.1_Missense_Mutation_p.G179D|RAB40C_ENST00000538492.1_Missense_Mutation_p.G179D	p.G179D	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			6	758	+		Hepatocellular(780;0.0218)	179			SOCS box.		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	ENST00000248139.3	37	c.536G>A	CCDS10413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371362	0.95923	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.22	5.22	0.72569	SOCS protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.72118	2.19	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.61592	0.891;0.891	D	0.88602	0.3150	10	0.54805	T	0.06	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	179;160	Q96S21;Q5PXE8	RB40C_HUMAN;.	D	179	ENSP00000438492:G179D;ENSP00000445050:G179D;ENSP00000438382:G179D;ENSP00000248139:G179D	ENSP00000248139:G179D	G	+	2	0	RAB40C	616093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	GGC		0.627	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		19	22	0	0	0	1	0	19	22				
ACTB	60	broad.mit.edu	37	7	5568090	5568090	+	Silent	SNP	G	G	A	rs144865943	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5568090G>A	ENST00000331789.5	-	4	815	c.624C>T	c.(622-624)atC>atT	p.I208I	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	208					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCACGCACGATTTCCCGCT	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22592	0.0		0.001	False		,,,				2504	0.0					ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(622-624)atC>atT		actin, beta							66.0	67.0	67.0					7																	5568090		2203	4300	6503	SO:0001819	synonymous_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568090G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.624C>T	7.37:g.5568090G>A							p.I208I	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	815	-		Ovarian(82;0.0606)	208					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000331789.5	37	c.624C>T	CCDS5341.1																																																																																				0.612	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		31	46	0	0	0	1	0	31	46				
PCDHAC2	56134	broad.mit.edu	37	5	140348837	140348837	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140348837G>T	ENST00000289269.5	+	1	3018	c.2486G>T	c.(2485-2487)aGc>aTc	p.S829I	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	829					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTGACAGCAGGAATCTC	0.517																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2485-2487)aGc>aTc									66.0	69.0	68.0					5																	140348837		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348837G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2486G>T	5.37:g.140348837G>T	ENSP00000289269:p.Ser829Ile					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.S829I	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3018	+			829					Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.2486G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387261	0.11581	.	.	ENSG00000243232	ENST00000289269	T	0.48836	0.8	5.19	2.41	0.29592	.	0.269820	0.26609	N	0.023424	T	0.32793	0.0841	L	0.32530	0.975	0.29630	N	0.845537	B;B	0.21147	0.011;0.052	B;B	0.19148	0.012;0.024	T	0.21143	-1.0254	10	0.51188	T	0.08	.	6.8478	0.23998	0.2947:0.0:0.7053:0.0	.	829;829	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	829	ENSP00000289269:S829I	ENSP00000289269:S829I	S	+	2	0	PCDHAC2	140329021	.	.	1.000000	0.80357	0.988000	0.76386	.	.	0.203000	0.20529	0.462000	0.41574	AGC		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		8	14	1	0	0.000157383	1	0.000161063	8	14				
LRRK2	120892	broad.mit.edu	37	12	40653310	40653310	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:40653310G>T	ENST00000298910.7	+	13	1505	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	LRRK2_ENST00000343742.2_Missense_Mutation_p.V483L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	483					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATGGCAGCAGTGGTCCCCAA	0.393																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(1447-1449)Gtg>Ttg		leucine-rich repeat kinase 2							101.0	99.0	100.0					12																	40653310		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40653310G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1447G>T	12.37:g.40653310G>T	ENSP00000298910:p.Val483Leu					LRRK2_ENST00000343742.2_Missense_Mutation_p.V483L	p.V483L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			13	1505	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	483					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1447G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828606	0.32329	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.62105	0.05;1.46;1.46	5.69	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.431113	0.25369	N	0.031163	T	0.51143	0.1657	L	0.43152	1.355	0.23406	N	0.997749	B;B	0.12013	0.005;0.001	B;B	0.08055	0.003;0.002	T	0.49194	-0.8965	10	0.62326	D	0.03	.	7.3162	0.26501	0.0843:0.0:0.746:0.1697	.	483;483	E9PC85;Q5S007	.;LRRK2_HUMAN	L	231;483;483	ENSP00000398726:V231L;ENSP00000341930:V483L;ENSP00000298910:V483L	ENSP00000298910:V483L	V	+	1	0	LRRK2	38939577	1.000000	0.71417	0.993000	0.49108	0.306000	0.27790	2.772000	0.47678	1.366000	0.46076	0.650000	0.86243	GTG		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	101	1	0	0.00198382	1	0.0020125	6	101				
TBX4	9496	broad.mit.edu	37	17	59560514	59560514	+	Silent	SNP	G	G	A	rs370669286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:59560514G>A	ENST00000240335.1	+	8	1320	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P	TBX4_ENST00000393853.4_Silent_p.P426P|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	425					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGTGTCGCCGTACACCAGCT	0.627																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1276-1278)ccG>ccA		T-box 4		G		0,4406		0,0,2203	101.0	88.0	92.0		1275	-3.4	0.9	17		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBX4	NM_018488.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		425/546	59560514	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560514G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1275G>A	17.37:g.59560514G>A						TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.P425P	p.P426P			P57082	TBX4_HUMAN			9	1441	+			425					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1278G>A	CCDS11629.1																																																																																				0.627	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		19	31	0	0	0	1	0	19	31				
ATP13A2	23400	broad.mit.edu	37	1	17322788	17322788	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17322788G>A	ENST00000326735.8	-	14	1347	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.L433L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.L433L			Q9NQ11	AT132_HUMAN	ATPase type 13A2	438					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGATGGTGCCGAGGAGAGCTG	0.662																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1297-1299)ctC>ctT		ATPase type 13A2							69.0	75.0	73.0					1																	17322788		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322788G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1314C>T	1.37:g.17322788G>A						ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.L433L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.L438L	p.L433L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	14	1488	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	438					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.1299C>T	CCDS175.1																																																																																				0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		16	22	0	0	0	1	0	16	22				
PLEKHA1	59338	broad.mit.edu	37	10	124157456	124157456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124157456G>A	ENST00000368990.3	+	3	295	c.164G>A	c.(163-165)cGt>cAt	p.R55H	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCATCACGTGTTGGAGCC	0.294																																						ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(163-165)cGt>cAt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							128.0	125.0	126.0					10																	124157456		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124157456G>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.164G>A	10.37:g.124157456G>A	ENSP00000357986:p.Arg55His					PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55H|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55H|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55H	p.R55H			Q9HB21	PKHA1_HUMAN			3	287	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	55			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.164G>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973257	0.34848	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.41	4.44	0.53790	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.387251	0.32769	N	0.005671	T	0.43233	0.1238	N	0.00707	-1.245	0.28917	N	0.892359	P;B	0.39116	0.66;0.001	B;B	0.35899	0.213;0.005	T	0.50783	-0.8787	10	0.40728	T	0.16	-8.722	14.3122	0.66424	0.0:0.2134:0.7866:0.0	.	55;55	B3KQ55;Q9HB21	.;PKHA1_HUMAN	H	55	ENSP00000357986:R55H;ENSP00000357985:R55H;ENSP00000357984:R55H;ENSP00000438608:R55H;ENSP00000376547:R55H;ENSP00000394416:R55H	ENSP00000357984:R55H	R	+	2	0	PLEKHA1	124147446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.060000	0.49955	2.697000	0.92050	0.655000	0.94253	CGT		0.294	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		6	60	0	0	0	1	0	6	60				
CTSH	1512	broad.mit.edu	37	15	79229690	79229690	+	Missense_Mutation	SNP	C	C	T	rs201782561		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79229690C>T	ENST00000220166.5	-	3	308	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CTSH_ENST00000534533.1_5'Flank	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	67					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTGTTGTGGGCGTTTATCTTC	0.512																																						ENST00000220166.5																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.(199-201)Gcc>Acc		cathepsin H							205.0	167.0	180.0					15																	79229690		2196	4293	6489	SO:0001583	missense	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79229690C>T	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.199G>A	15.37:g.79229690C>T	ENSP00000220166:p.Ala67Thr						p.A67T	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN			3	308	-			67					B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	ENST00000220166.5	37	c.199G>A	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302194	0.23736	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000444399	D	0.85629	-2.01	4.82	3.82	0.43975	.	0.407810	0.23191	N	0.050905	T	0.73466	0.3590	L	0.35487	1.065	0.30297	N	0.789838	P;B	0.37781	0.608;0.175	B;B	0.34346	0.18;0.017	T	0.68093	-0.5500	10	0.16420	T	0.52	.	10.3154	0.43734	0.0:0.8:0.1999:0.0	.	67;55	E9PF73;E9PBP2	.;.	T	67;55;67	ENSP00000220166:A67T	ENSP00000220166:A67T	A	-	1	0	CTSH	77016745	0.185000	0.23213	0.955000	0.39395	0.071000	0.16799	0.343000	0.19944	2.600000	0.87896	0.561000	0.74099	GCC		0.512	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390		33	50	0	0	0	1	0	33	50				
CTTN	2017	broad.mit.edu	37	11	70265948	70265948	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70265948A>G	ENST00000301843.8	+	9	871	c.665A>G	c.(664-666)cAc>cGc	p.H222R	CTTN_ENST00000346329.3_Missense_Mutation_p.H222R|CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000376561.3_Missense_Mutation_p.H222R	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	222					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACGGAGAAGCACGAGTCCCAG	0.478																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(664-666)cAc>cGc		cortactin							85.0	72.0	76.0					11																	70265948		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70265948A>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.665A>G	11.37:g.70265948A>G	ENSP00000301843:p.His222Arg					CTTN_ENST00000301843.8_Missense_Mutation_p.H222R|CTTN_ENST00000376561.3_Missense_Mutation_p.H222R	p.H222R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	973	+			222					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.665A>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.569536|4.569536	0.86439|0.86439	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.66280|.	0.85;-0.2;0.81|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84215|0.84215	0.5423|0.5423	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.992;0.999|.	D|D	0.88153|0.88153	0.2852|0.2852	10|5	0.62326|.	D|.	0.03|.	-41.5496|-41.5496	15.0742|15.0742	0.72063|0.72063	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	222;222;222|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	R|A	222|204	ENSP00000317189:H222R;ENSP00000301843:H222R;ENSP00000365745:H222R|.	ENSP00000301843:H222R|.	H|T	+|+	2|1	0|0	CTTN|CTTN	69943596|69943596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	8.360000|8.360000	0.90095|0.90095	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	CAC|ACG		0.478	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		12	17	0	0	0	1	0	12	17				
HAS3	3038	broad.mit.edu	37	16	69148911	69148911	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69148911C>A	ENST00000306560.1	+	4	1560	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	HAS3_ENST00000569188.1_Silent_p.T468T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	468					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GCTGGGGCACCTCTGGCCGAA	0.527																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1402-1404)acC>acA		hyaluronan synthase 3							157.0	144.0	148.0					16																	69148911		2198	4300	6498	SO:0001819	synonymous_variant	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148911C>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1404C>A	16.37:g.69148911C>A						HAS3_ENST00000569188.1_Silent_p.T468T|HAS3_ENST00000219322.3_Intron	p.T468T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1560	+		Ovarian(137;0.101)	468					A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	ENST00000306560.1	37	c.1404C>A	CCDS10871.1																																																																																				0.527	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		11	75	1	0	1.08611e-07	1	1.14056e-07	11	75				
BCAR1	9564	broad.mit.edu	37	16	75263755	75263755	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75263755G>A	ENST00000162330.5	-	7	2393	c.2267C>T	c.(2266-2268)aCc>aTc	p.T756I	BCAR1_ENST00000538440.2_Missense_Mutation_p.T756I|BCAR1_ENST00000393420.6_Missense_Mutation_p.T774I|BCAR1_ENST00000420641.3_Missense_Mutation_p.T774I|BCAR1_ENST00000418647.3_Missense_Mutation_p.T802I|BCAR1_ENST00000542031.2_Missense_Mutation_p.T754I|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Missense_Mutation_p.T727I|BCAR1_ENST00000393422.2_Missense_Mutation_p.T774I|BCAR1_ENST00000535626.2_Missense_Mutation_p.T608I|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	756	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTCAGTGTGGTCAGGTTGGC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2179-2181)aCc>aTc		breast cancer anti-estrogen resistance 1							78.0	72.0	74.0					16																	75263755		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263755G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2267C>T	16.37:g.75263755G>A	ENSP00000162330:p.Thr756Ile					BCAR1_ENST00000393420.6_Missense_Mutation_p.T774I|BCAR1_ENST00000542031.2_Missense_Mutation_p.T754I|BCAR1_ENST00000538440.2_Missense_Mutation_p.T756I|BCAR1_ENST00000420641.3_Missense_Mutation_p.T774I|BCAR1_ENST00000535626.2_Missense_Mutation_p.T608I|BCAR1_ENST00000393422.2_Missense_Mutation_p.T774I|BCAR1_ENST00000418647.3_Missense_Mutation_p.T802I|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.T756I	p.T727I			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3832	-			756					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2180C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714075	0.30413	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.29908	0.895	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.997;0.997;0.998;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.991;0.995;0.991;0.984;0.984;0.991;0.995;0.991;0.997	T	0.07158	-1.0787	10	0.24483	T	0.36	-43.9065	16.5844	0.84724	0.0:0.0:1.0:0.0	.	774;608;802;754;774;774;756;756;546	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	I	756;774;774;756;802;608;774;754;727	ENSP00000162330:T756I;ENSP00000377074:T774I;ENSP00000392708:T774I;ENSP00000443841:T756I;ENSP00000391669:T802I;ENSP00000440370:T608I;ENSP00000377072:T774I;ENSP00000440415:T754I;ENSP00000442161:T727I	ENSP00000162330:T756I	T	-	2	0	BCAR1	73821256	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.265000	0.51561	2.310000	0.77875	0.563000	0.77884	ACC		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		28	34	0	0	0	1	0	28	34				
FAM86DP	692099	broad.mit.edu	37	3	75481979	75481979	+	lincRNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:75481979G>T	ENST00000608169.1	+	0	0				FAM86DP_ENST00000459803.1_RNA																							ATATCCCGCAGCAGCTCAGAA	0.488																																						ENST00000459803.1																			0																																																			0							g.chr3:75481979G>T																													3.37:g.75481979G>T								NR_024241.1						0	173	-									RNA	SNP	ENST00000608169.1	37																																																																																						0.488	RP11-803B1.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471513.1			27	50	1	0	1.26612e-14	1	1.38261e-14	27	50				
F13A1	2162	broad.mit.edu	37	6	6197473	6197473	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6197473G>A	ENST00000264870.3	-	9	1464	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	400					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATTTTCCTGGGGGGTGCTGTC	0.473																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1198-1200)cCc>cTc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						86.0	81.0	83.0					6																	6197473		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6197473G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1199C>T	6.37:g.6197473G>A	ENSP00000264870:p.Pro400Leu						p.P400L	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			9	1464	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	400					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1199C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794862	0.90453	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.96651	-4.08	5.47	5.47	0.80525	Transglutaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98781	1.0732	10	0.87932	D	0	.	18.3262	0.90255	0.0:0.0:1.0:0.0	.	337;400	F5H080;P00488	.;F13A_HUMAN	L	400;337	ENSP00000264870:P400L	ENSP00000264870:P400L	P	-	2	0	F13A1	6142472	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.247000	0.95444	2.558000	0.86282	0.655000	0.94253	CCC		0.473	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		3	37	0	0	0	1	0	3	37				
TFIP11	24144	broad.mit.edu	37	22	26890809	26890809	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26890809C>T	ENST00000407690.1	-	13	2229	c.1946G>A	c.(1945-1947)aGc>aAc	p.S649N	TFIP11_ENST00000407148.1_Missense_Mutation_p.S649N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	649					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCCACCAGGCTAGAGACAGA	0.502																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGc>aAc		tuftelin interacting protein 11							112.0	94.0	100.0					22																	26890809		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890809C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1946G>A	22.37:g.26890809C>T	ENSP00000384421:p.Ser649Asn					TFIP11_ENST00000407148.1_Missense_Mutation_p.S649N|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649N	p.S649N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			13	2229	-			649					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1946G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517667	0.44763	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.077604	0.85682	D	0.000000	T	0.60301	0.2258	M	0.63428	1.95	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.50311	-0.8843	10	0.13108	T	0.6	-42.2131	18.4159	0.90570	0.0:1.0:0.0:0.0	.	649	Q9UBB9	TFP11_HUMAN	N	649;649;649;334;649	ENSP00000384421:S649N;ENSP00000383892:S649N;ENSP00000385861:S649N;ENSP00000384297:S649N	ENSP00000384297:S649N	S	-	2	0	TFIP11	25220809	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.485000	0.66850	2.823000	0.97156	0.650000	0.86243	AGC		0.502	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		13	30	0	0	0	1	0	13	30				
SKOR1	390598	broad.mit.edu	37	15	68118589	68118589	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68118589C>T	ENST00000380035.2	+	2	481	c.423C>T	c.(421-423)gcC>gcT	p.A141A	SKOR1_ENST00000554240.1_Silent_p.A102A|SKOR1_ENST00000554054.1_Silent_p.A113A|SKOR1_ENST00000389002.1_Silent_p.A132A|SKOR1_ENST00000341418.5_Silent_p.A327A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	141					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGCGTCGGGCCGGGGCCATGC	0.627																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(421-423)gcC>gcT		SKI family transcriptional corepressor 1							58.0	58.0	58.0					15																	68118589		2200	4296	6496	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118589C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.423C>T	15.37:g.68118589C>T						SKOR1_ENST00000341418.5_Silent_p.A327A|SKOR1_ENST00000554054.1_Silent_p.A113A|SKOR1_ENST00000554240.1_Silent_p.A102A|SKOR1_ENST00000389002.1_Silent_p.A132A	p.A141A			P84550	SKOR1_HUMAN			2	481	+			141					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.423C>T																																																																																					0.627	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		13	17	0	0	0	1	0	13	17				
SECISBP2	79048	broad.mit.edu	37	9	91940523	91940523	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91940523T>G	ENST00000375807.3	+	3	435	c.364T>G	c.(364-366)Ttt>Gtt	p.F122V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.F49V|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.F54V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	122					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTACCGAGGTTTTCAAACAGT	0.423																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(364-366)Ttt>Gtt		SECIS binding protein 2							191.0	176.0	182.0					9																	91940523		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940523T>G	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.364T>G	9.37:g.91940523T>G	ENSP00000364965:p.Phe122Val					SECISBP2_ENST00000534113.2_Missense_Mutation_p.F54V|SECISBP2_ENST00000339901.4_Missense_Mutation_p.F49V|SECISBP2_ENST00000470305.1_3'UTR	p.F122V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			3	435	+			122					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.364T>G	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.577704	0.00879	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.71698	-0.57;-0.59;-0.58	4.17	2.93	0.34026	.	0.386473	0.22908	N	0.054167	T	0.47229	0.1434	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.20052	0.005;0.024;0.041;0.024;0.041	B;B;B;B;B	0.16722	0.005;0.007;0.016;0.005;0.016	T	0.29610	-1.0006	10	0.02654	T	1	-5.0995	9.1614	0.37025	0.0:0.0:0.1821:0.8179	.	142;122;49;122;54	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	V	122;142;49;54	ENSP00000364965:F122V;ENSP00000364959:F49V;ENSP00000436650:F54V	ENSP00000364959:F49V	F	+	1	0	SECISBP2	91130343	0.016000	0.18221	0.013000	0.15412	0.072000	0.16883	1.380000	0.34351	1.879000	0.54435	0.379000	0.24179	TTT		0.423	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		58	105	0	0	0	1	0	58	105				
FARP2	9855	broad.mit.edu	37	2	242401943	242401943	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242401943G>A	ENST00000264042.3	+	15	1763	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	FARP2_ENST00000545004.1_Silent_p.V531V|FARP2_ENST00000373287.4_Silent_p.V531V	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	531					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCGCGTGCCTGCAGACG	0.498																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1591-1593)gtG>gtA		FERM, RhoGEF and pleckstrin domain protein 2							92.0	84.0	87.0					2																	242401943		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242401943G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1593G>A	2.37:g.242401943G>A						FARP2_ENST00000545004.1_Silent_p.V531V|FARP2_ENST00000373287.4_Silent_p.V531V	p.V531V	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	15	1763	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	531					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1593G>A	CCDS33424.1																																																																																				0.498	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			18	31	0	0	0	1	0	18	31				
CD1D	912	broad.mit.edu	37	1	158151319	158151319	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158151319G>A	ENST00000368171.3	+	3	635	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	46					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCGCACCGACGGCTTGGCGTG	0.637																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(136-138)Ggc>Agc		CD1d molecule							114.0	127.0	123.0					1																	158151319		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151319G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.136G>A	1.37:g.158151319G>A	ENSP00000357153:p.Gly46Ser						p.G46S	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	635	+	all_hematologic(112;0.0378)		46					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.136G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257100	0.59321	.	.	ENSG00000158473	ENST00000368171	T	0.14640	2.49	4.44	-1.63	0.08345	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.991118	0.08194	N	0.983361	T	0.03783	0.0107	L	0.41710	1.295	0.09310	N	1	P	0.49559	0.925	B	0.42282	0.382	T	0.37502	-0.9703	10	0.31617	T	0.26	-0.5456	7.4421	0.27190	0.0938:0.0:0.2371:0.6691	.	46	P15813	CD1D_HUMAN	S	46	ENSP00000357153:G46S	ENSP00000357153:G46S	G	+	1	0	CD1D	156417943	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.232000	0.17891	-0.412000	0.07519	0.655000	0.94253	GGC		0.637	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		46	103	0	0	0	1	0	46	103				
NPTXR	23467	broad.mit.edu	37	22	39218726	39218726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39218726C>T	ENST00000333039.2	-	5	1514	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	464	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGGCGCAGTGCAGTTGGCAAT	0.612																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1390-1392)tGc>tAc		neuronal pentraxin receptor							60.0	45.0	50.0					22																	39218726		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39218726C>T	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1391G>A	22.37:g.39218726C>T	ENSP00000327545:p.Cys464Tyr						p.C464Y	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			5	1514	-	Melanoma(58;0.04)		464			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.1391G>A	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121930	0.77436	.	.	ENSG00000221890	ENST00000333039	T	0.06849	3.25	3.76	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	H	0.96080	3.765	0.47153	D	0.999330	D	0.76494	0.999	D	0.87578	0.998	T	0.67995	-0.5526	9	0.87932	D	0	-37.9572	16.4511	0.83991	0.0:1.0:0.0:0.0	.	464	O95502	NPTXR_HUMAN	Y	464	ENSP00000327545:C464Y	ENSP00000327545:C464Y	C	-	2	0	NPTXR	37548672	1.000000	0.71417	0.987000	0.45799	0.911000	0.54048	6.039000	0.70972	2.037000	0.60232	0.462000	0.41574	TGC		0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		6	17	0	0	0	1	0	6	17				
GPR97	222487	broad.mit.edu	37	16	57719789	57719789	+	Silent	SNP	G	G	A	rs150564489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57719789G>A	ENST00000333493.4	+	11	1652	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	GPR97_ENST00000450388.3_Silent_p.P377P|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.P287P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	497					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P497P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCACCCCGTTGGGCCTCT	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		19338	0.0		0.001	False		,,,				2504	0.0					ENST00000333493.4																			1	Substitution - coding silent(1)	p.P497P(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1489-1491)ccG>ccA		G protein-coupled receptor 97		G		1,4395	2.1+/-5.4	0,1,2197	109.0	95.0	100.0		1491	-11.2	0.1	16	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		497/550	57719789	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719789G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1491G>A	16.37:g.57719789G>A						GPR97_ENST00000450388.3_Silent_p.P377P|GPR97_ENST00000327655.6_Silent_p.P287P|RP11-405F3.4_ENST00000563062.1_RNA	p.P497P	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			11	1652	+			497					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1491G>A	CCDS10786.1																																																																																				0.612	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		22	41	0	0	0	1	0	22	41				
POLG	5428	broad.mit.edu	37	15	89866119	89866119	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89866119A>G	ENST00000268124.5	-	14	2613	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	POLG_ENST00000442287.2_Silent_p.C760C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	760					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTCCCACATTACAGCTATTAC	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2278-2280)tgT>tgC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							104.0	104.0	104.0					15																	89866119		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89866119A>G	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2280T>C	15.37:g.89866119A>G						POLG_ENST00000442287.2_Silent_p.C760C	p.C760C	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		14	2613	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		760					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.2280T>C	CCDS10350.1																																																																																				0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		22	37	0	0	0	1	0	22	37				
SLC9A5	6553	broad.mit.edu	37	16	67290915	67290915	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67290915G>A	ENST00000299798.11	+	7	1299	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	412					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGGGGCTGTGGCCTTTGCTCT	0.552																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1234-1236)Gcc>Acc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							87.0	91.0	90.0					16																	67290915		2010	4190	6200	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290915G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1234G>A	16.37:g.67290915G>A	ENSP00000299798:p.Ala412Thr						p.A412T	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1299	+		Ovarian(137;0.0563)	412					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1234G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918039	0.92249	.	.	ENSG00000135740	ENST00000299798	T	0.16743	2.32	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41627	-0.9498	10	0.87932	D	0	.	19.032	0.92961	0.0:0.0:1.0:0.0	.	412	Q14940	SL9A5_HUMAN	T	412	ENSP00000299798:A412T	ENSP00000299798:A412T	A	+	1	0	SLC9A5	65848416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	GCC		0.552	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			45	75	0	0	0	1	0	45	75				
LRIT3	345193	broad.mit.edu	37	4	110789072	110789072	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110789072A>G	ENST00000594814.1	+	3	865	c.865A>G	c.(865-867)Aga>Gga	p.R289G	LRIT3_ENST00000409621.2_Missense_Mutation_p.R106G|LRIT3_ENST00000327908.3_Missense_Mutation_p.R106G|LRIT3_ENST00000379920.3_Missense_Mutation_p.R244G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	289	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CACATGGACCAGATCTGACAG	0.453																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(316-318)Aga>Gga		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							86.0	82.0	83.0					4																	110789072		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110789072A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.865A>G	4.37:g.110789072A>G	ENSP00000469759:p.Arg289Gly					LRIT3_ENST00000379920.3_Missense_Mutation_p.R244G|LRIT3_ENST00000409621.2_Missense_Mutation_p.R106G|LRIT3_ENST00000594814.1_Missense_Mutation_p.R289G	p.R106G			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1080	+			244					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.316A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915509	0.73098	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.35048	1.33;1.33;1.33	5.71	-2.26	0.06867	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188962	0.53938	D	0.000050	T	0.60130	0.2245	M	0.90198	3.095	0.32877	D	0.509988	D;D	0.63880	0.992;0.993	P;P	0.61940	0.872;0.896	T	0.74839	-0.3528	10	0.54805	T	0.06	.	15.9826	0.80125	0.4305:0.5695:0.0:0.0	.	244;106	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	G	106;244;106	ENSP00000328222:R106G;ENSP00000369252:R244G;ENSP00000386734:R106G	ENSP00000328222:R106G	R	+	1	2	LRIT3	111008521	1.000000	0.71417	0.581000	0.28614	0.883000	0.51084	4.010000	0.57117	-0.199000	0.10317	0.533000	0.62120	AGA		0.453	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		25	40	0	0	0	1	0	25	40				
NME1	4830	broad.mit.edu	37	17	49237346	49237346	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:49237346C>T	ENST00000393196.3	+	3	263	c.132C>T	c.(130-132)tcC>tcT	p.S44S	NME2_ENST00000393193.2_Silent_p.S44S|NME1-NME2_ENST00000608447.1_Silent_p.S69S|NME1_ENST00000480143.1_Silent_p.S69S|NME1_ENST00000511355.1_Silent_p.S44S|NME2_ENST00000376392.6_Silent_p.S44S|NME1_ENST00000013034.3_Silent_p.S69S|NME1-NME2_ENST00000393198.3_Silent_p.S44S|NME2_ENST00000555572.1_Silent_p.S69S|NME1_ENST00000336097.3_Silent_p.S69S	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	44					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	AATAGGCTTCCGAAGATCTTC	0.463																																					GBM(176;1298 2890 6639 30062)	ENST00000511355.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(130-132)tcC>tcT		NME/NM23 nucleoside diphosphate kinase 1							152.0	138.0	143.0					17																	49237346		2203	4300	6503	SO:0001819	synonymous_variant	4830							g.chr17:49237346C>T	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.132C>T	17.37:g.49237346C>T						NME1_ENST00000013034.3_Silent_p.S69S|NME1_ENST00000480143.1_Silent_p.S69S|NME2_ENST00000393193.2_Silent_p.S44S|NME1_ENST00000393196.3_Silent_p.S44S|NME2_ENST00000376392.6_Silent_p.S44S|NME1_ENST00000336097.3_Silent_p.S69S|NME2_ENST00000555572.1_Silent_p.S69S	p.S44S					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		3	218	+								Q6FGK3|Q86XQ2|Q9UDJ6	Silent	SNP	ENST00000393196.3	37	c.132C>T	CCDS11579.1																																																																																				0.463	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		14	63	0	0	0	1	0	14	63				
BAZ2A	11176	broad.mit.edu	37	12	57003985	57003985	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57003985G>A	ENST00000551812.1	-	9	1993	c.1800C>T	c.(1798-1800)aaC>aaT	p.N600N	BAZ2A_ENST00000549884.1_Silent_p.N598N|BAZ2A_ENST00000179765.5_Silent_p.N568N|BAZ2A_ENST00000379441.3_Silent_p.N570N	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	600	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGTGTACCACGTTGCGGCTCA	0.493																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1702-1704)aaC>aaT		bromodomain adjacent to zinc finger domain, 2A							108.0	110.0	109.0					12																	57003985		1979	4152	6131	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003985G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1800C>T	12.37:g.57003985G>A						BAZ2A_ENST00000379441.3_Silent_p.N570N|BAZ2A_ENST00000551812.1_Silent_p.N600N|BAZ2A_ENST00000549884.1_Silent_p.N598N	p.N568N			Q9UIF9	BAZ2A_HUMAN			10	1903	-			600			MBD.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.1704C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	0.835	-0.743889	0.03088	.	.	ENSG00000076108	ENST00000547650	.	.	.	4.75	-5.81	0.02340	.	.	.	.	.	T	0.64494	0.2603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65578	-0.6134	4	.	.	.	.	16.0041	0.80344	0.6372:0.0:0.3628:0.0	.	.	.	.	M	29	.	.	T	-	2	0	BAZ2A	55290252	0.742000	0.28228	0.515000	0.27774	0.021000	0.10359	0.011000	0.13264	-1.585000	0.01634	-1.134000	0.01955	ACG		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		25	40	0	0	0	1	0	25	40				
EPB41L2	2037	broad.mit.edu	37	6	131222276	131222276	+	Missense_Mutation	SNP	C	C	T	rs375486728		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131222276C>T	ENST00000337057.3	-	7	1155	c.974G>A	c.(973-975)cGc>cAc	p.R325H	EPB41L2_ENST00000529208.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R325H|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R325H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	325	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCAGGGCAGGCGGCCAGAGGC	0.552																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(973-975)cGc>cAc		erythrocyte membrane protein band 4.1-like 2		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	93.0	93.0		974,974,974,974,974	3.5	1.0	6		93	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	EPB41L2	NM_001431.3,NM_001199389.1,NM_001199388.1,NM_001135555.2,NM_001135554.1	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	325/1006,325/853,325/853,325/674,325/674	131222276	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222276C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.974G>A	6.37:g.131222276C>T	ENSP00000338481:p.Arg325His					EPB41L2_ENST00000530481.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R325H|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R325H|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R325H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R325H	p.R325H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1155	-	Breast(56;0.0639)		325			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.974G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606867	0.66558	2.27E-4	0.0	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.33	3.45	0.39498	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.051250	0.85682	N	0.000000	T	0.74336	0.3703	M	0.90309	3.105	0.80722	D	1	B;B;B;B;B	0.23990	0.095;0.025;0.025;0.091;0.025	B;B;B;B;B	0.22601	0.019;0.006;0.006;0.04;0.006	T	0.75187	-0.3406	10	0.72032	D	0.01	.	9.7394	0.40409	0.1375:0.7854:0.0:0.0771	.	325;325;325;325;325	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	H	325	ENSP00000434308:R325H;ENSP00000434576:R325H;ENSP00000402041:R325H;ENSP00000338481:R325H;ENSP00000376222:R325H;ENSP00000357110:R325H;ENSP00000436348:R325H;ENSP00000432803:R325H;ENSP00000431988:R325H;ENSP00000431647:R325H;ENSP00000436641:R325H	ENSP00000338481:R325H	R	-	2	0	EPB41L2	131263969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.941000	0.63540	0.669000	0.31146	-0.345000	0.07892	CGC		0.552	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			19	31	0	0	0	1	0	19	31				
SUCLA2	8803	broad.mit.edu	37	13	48523739	48523739	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:48523739C>T	ENST00000378654.3	-	9	1164		c.e9-1		SUCLA2_ENST00000543413.1_Splice_Site|SUCLA2_ENST00000544100.1_Splice_Site|SUCLA2_ENST00000534875.1_Splice_Site	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit						cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TAGCCAGTACCTATGAATAAA	0.313																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.e9-1		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						59.0	57.0	58.0					13																	48523739		2203	4298	6501	SO:0001630	splice_region_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48523739C>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.1108-1G>A	13.37:g.48523739C>T						SUCLA2_ENST00000543413.1_Splice_Site|SUCLA2_ENST00000544100.1_Splice_Site|SUCLA2_ENST00000534875.1_Splice_Site		NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	9	1164	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)						B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Splice_Site	SNP	ENST00000378654.3	37		CCDS9406.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137427	0.37728	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0867	0.86612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUCLA2	47421740	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	7.348000	0.79366	2.343000	0.79666	0.491000	0.48974	.		0.313	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		Intron	11	50	0	0	0	1	0	11	50				
RYR3	6263	broad.mit.edu	37	15	34064260	34064260	+	Missense_Mutation	SNP	G	G	A	rs189282419	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34064260G>A	ENST00000389232.4	+	63	9026	c.8956G>A	c.(8956-8958)Gtt>Att	p.V2986I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2986I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2986					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAAAGGCGTTTCTCAGAA	0.448													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		19567	0.0		0.0	False		,,,				2504	0.0					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8956-8958)Gtt>Att		ryanodine receptor 3		G	ILE/VAL	11,3819		0,11,1904	99.0	92.0	94.0		8956	5.7	1.0	15		94	0,8262		0,0,4131	yes	missense	RYR3	NM_001036.3	29	0,11,6035	AA,AG,GG		0.0,0.2872,0.091	possibly-damaging	2986/4871	34064260	11,12081	1915	4131	6046	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064260G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8956G>A	15.37:g.34064260G>A	ENSP00000373884:p.Val2986Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V2986I	p.V2986I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	9026	+		all_lung(180;7.18e-09)	2986					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8956G>A	CCDS45210.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.44	3.827565	0.71143	0.002872	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96774	-4.12;-4.12	5.65	5.65	0.86999	.	0.152498	0.43579	D	0.000550	D	0.96259	0.8780	L	0.59436	1.845	0.58432	D	0.999996	D;D	0.69078	0.996;0.997	P;P	0.59761	0.856;0.863	D	0.95062	0.8196	10	0.54805	T	0.06	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2986;2986	Q15413-2;Q15413	.;RYR3_HUMAN	I	2986	ENSP00000373884:V2986I;ENSP00000399610:V2986I	ENSP00000354735:V2986I	V	+	1	0	RYR3	31851552	1.000000	0.71417	0.983000	0.44433	0.789000	0.44602	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GTT		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	10	0	0	0	1	0	11	10				
ANK1	286	broad.mit.edu	37	8	41580698	41580698	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41580698A>G	ENST00000347528.4	-	9	937	c.854T>C	c.(853-855)gTg>gCg	p.V285A	ANK1_ENST00000396945.1_Missense_Mutation_p.V285A|ANK1_ENST00000379758.2_Missense_Mutation_p.V285A|ANK1_ENST00000265709.8_Missense_Mutation_p.V318A|ANK1_ENST00000289734.7_Missense_Mutation_p.V285A|ANK1_ENST00000352337.4_Missense_Mutation_p.V285A|ANK1_ENST00000396942.1_Missense_Mutation_p.V285A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	285	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)			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)			TGAGATTCGCACGTGCCCATT	0.507																																						ENST00000396942.1																			0				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						c.(853-855)gTg>gCg		ankyrin 1, erythrocytic							162.0	140.0	147.0					8																	41580698		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.chr8:41580698A>G	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.854T>C	8.37:g.41580698A>G	ENSP00000339620:p.Val285Ala					ANK1_ENST00000347528.4_Missense_Mutation_p.V285A|ANK1_ENST00000289734.7_Missense_Mutation_p.V285A|ANK1_ENST00000265709.8_Missense_Mutation_p.V318A|ANK1_ENST00000396945.1_Missense_Mutation_p.V285A|ANK1_ENST00000352337.4_Missense_Mutation_p.V285A|ANK1_ENST00000379758.2_Missense_Mutation_p.V285A	p.V285A			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)		9	937	-	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)	285			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.854T>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509770	0.27036	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.191536	0.44483	D	0.000449	T	0.44953	0.1318	N	0.12746	0.255	0.54753	D	0.999984	B;B;B;B;B	0.21309	0.015;0.016;0.054;0.043;0.015	B;B;B;B;B	0.27170	0.077;0.06;0.046;0.027;0.077	T	0.37572	-0.9700	10	0.12430	T	0.62	.	15.4341	0.75129	1.0:0.0:0.0:0.0	.	318;285;285;285;285	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	A	285;285;285;285;285;285;318;285	ENSP00000339620:V285A;ENSP00000289734:V285A;ENSP00000369082:V285A;ENSP00000380149:V285A;ENSP00000380147:V285A;ENSP00000309131:V285A;ENSP00000265709:V318A	ENSP00000265709:V318A	V	-	2	0	ANK1	41699855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.143000	0.64826	2.051000	0.60960	0.533000	0.62120	GTG		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		31	48	0	0	0	1	0	31	48				
TRIM5	85363	broad.mit.edu	37	11	5686330	5686330	+	Silent	SNP	G	G	A	rs56397848		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5686330G>A	ENST00000380034.3	-	8	1447	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Silent_p.Y397Y|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCAGTAGCCGTATTTAGGTT	0.423																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1189-1191)taC>taT		tripartite motif containing 5							104.0	110.0	108.0					11																	5686330		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686330G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1191C>T	11.37:g.5686330G>A						TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Silent_p.Y397Y|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR	p.Y397Y			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1493	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	397			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.1191C>T	CCDS31393.1																																																																																				0.423	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		52	83	0	0	0	1	0	52	83				
PCDHGB1	56104	broad.mit.edu	37	5	140731491	140731491	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731491C>T	ENST00000523390.1	+	1	1664	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	555	Cadherin 5. {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.A555V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAATGCGCCACGGGTG	0.692																																						ENST00000523390.1																			1	Substitution - Missense(1)	p.A555V(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1663-1665)gCg>gTg									39.0	48.0	45.0					5																	140731491		2124	4247	6371	SO:0001583	missense	0							g.chr5:140731491C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1664C>T	5.37:g.140731491C>T	ENSP00000429273:p.Ala555Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A555V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1664	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1664C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.31	3.596957	0.66332	.	.	ENSG00000254221	ENST00000523390	T	0.61510	0.1	5.39	5.39	0.77823	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.58250	0.2109	L	0.56199	1.76	0.29292	N	0.869262	D;P	0.57899	0.981;0.928	P;B	0.44772	0.46;0.288	T	0.61187	-0.7113	9	0.54805	T	0.06	.	15.5049	0.75731	0.0:0.8612:0.1388:0.0	.	555;555	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	555	ENSP00000429273:A555V	ENSP00000429273:A555V	A	+	2	0	PCDHGB1	140711675	0.098000	0.21812	1.000000	0.80357	0.687000	0.40016	3.813000	0.55636	2.683000	0.91414	0.563000	0.77884	GCG		0.692	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		24	30	0	0	0	1	0	24	30				
BTNL2	56244	broad.mit.edu	37	6	32372925	32372925	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32372925G>T	ENST00000374993.1	-	2	217	c.218C>A	c.(217-219)cCt>cAt	p.P73H	BTNL2_ENST00000454136.3_Missense_Mutation_p.P73H|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.P73H|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.P73H	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	73	Ig-like V-type 1.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACAAACACAGGTGTGCTGGG	0.562																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(217-219)cCt>cAt		butyrophilin-like 2 (MHC class II associated)							233.0	221.0	225.0					6																	32372925		1511	2709	4220	SO:0001583	missense	56244					integral to membrane		g.chr6:32372925G>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.218C>A	6.37:g.32372925G>T	ENSP00000364132:p.Pro73His					BTNL2_ENST00000429232.2_Missense_Mutation_p.P73H|BTNL2_ENST00000374993.1_Missense_Mutation_p.P73H|BTNL2_ENST00000374995.3_Missense_Mutation_p.P73H|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron	p.P73H			Q9UIR0	BTNL2_HUMAN			2	222	-			73			Ig-like V-type 1.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.218C>A		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448646	0.26074	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.91	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.670246	0.13226	N	0.404039	T	0.46776	0.1410	M	0.66506	2.035	0.09310	N	1	B	0.25390	0.125	B	0.29598	0.104	T	0.52449	-0.8574	10	0.87932	D	0	.	7.8932	0.29691	0.0851:0.0:0.7388:0.1761	.	73	Q9UIR0	BTNL2_HUMAN	H	73;73;73;73;72	ENSP00000364134:P73H;ENSP00000364132:P73H;ENSP00000411166:P73H;ENSP00000388434:P72H	ENSP00000364132:P73H	P	-	2	0	BTNL2	32480903	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	0.474000	0.22148	0.743000	0.32719	0.632000	0.83419	CCT		0.562	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		24	32	1	0	1.64293e-13	1	1.78609e-13	24	32				
DNAH9	1770	broad.mit.edu	37	17	11593032	11593032	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11593032A>T	ENST00000262442.4	+	20	3961	c.3893A>T	c.(3892-3894)gAg>gTg	p.E1298V	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1298V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1298	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCAGGAAGGAGGTCTGCCAG	0.532																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3892-3894)gAg>gTg		dynein, axonemal, heavy chain 9							95.0	88.0	91.0					17																	11593032		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593032A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3893A>T	17.37:g.11593032A>T	ENSP00000262442:p.Glu1298Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.E1298V	p.E1298V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	3961	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1298			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3893A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545604	0.65198	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.65916	-0.18;-0.18	5.6	5.6	0.85130	Dynein heavy chain, domain-2 (1);	0.140193	0.46442	D	0.000285	D	0.85239	0.5651	H	0.96015	3.755	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	D	0.90070	0.4162	10	0.87932	D	0	.	15.7992	0.78439	1.0:0.0:0.0:0.0	.	1298	Q9NYC9	DYH9_HUMAN	V	1298	ENSP00000262442:E1298V;ENSP00000414874:E1298V	ENSP00000262442:E1298V	E	+	2	0	DNAH9	11533757	1.000000	0.71417	0.960000	0.40013	0.392000	0.30506	5.814000	0.69208	2.143000	0.66587	0.460000	0.39030	GAG		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	51	0	0	0	1	0	32	51				
GABBR1	2550	broad.mit.edu	37	6	29599295	29599295	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29599295A>T	ENST00000377034.4	-	3	502	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	GABBR1_ENST00000377016.4_Missense_Mutation_p.F56Y|GABBR1_ENST00000376977.3_Missense_Mutation_p.F56Y	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CACTGGCAGGAAGTTGATAGC	0.627																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(166-168)tTc>tAc		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						97.0	103.0	101.0					6																	29599295		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599295A>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.167T>A	6.37:g.29599295A>T	ENSP00000366233:p.Phe56Tyr					GABBR1_ENST00000377016.4_Missense_Mutation_p.F56Y|GABBR1_ENST00000376977.3_Missense_Mutation_p.F56Y	p.F56Y	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			3	502	-			56			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.167T>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461787	0.84425	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;D;T;T;T	0.82893	-0.05;-1.66;-0.05;-0.05;-0.05	4.49	4.49	0.54785	Complement control module (1);Sushi/SCR/CCP (2);	0.310861	0.29900	N	0.010919	T	0.54615	0.1869	N	0.08118	0	0.26685	N	0.971463	P;P;P	0.52316	0.775;0.952;0.784	B;B;B	0.42495	0.199;0.352;0.389	T	0.57808	-0.7747	10	0.66056	D	0.02	-16.7921	11.8141	0.52199	1.0:0.0:0.0:0.0	.	56;56;56	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	Y	56;56;56;56;61	ENSP00000366176:F56Y;ENSP00000366215:F56Y;ENSP00000366233:F56Y;ENSP00000419755:F56Y;ENSP00000417332:F61Y	ENSP00000366176:F56Y	F	-	2	0	GABBR1	29707274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.499000	0.90494	1.680000	0.50976	0.374000	0.22700	TTC		0.627	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			42	47	0	0	0	1	0	42	47				
ZNF626	199777	broad.mit.edu	37	19	20829186	20829186	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20829186G>A	ENST00000601440.1	-	2	175	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.A10V	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	10	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)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTCTATGGCCACATCTCT	0.413																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(28-30)gCc>gTc		zinc finger protein 626							91.0	99.0	96.0					19																	20829186		2203	4297	6500	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20829186G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.29C>T	19.37:g.20829186G>A	ENSP00000469958:p.Ala10Val					CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.A10V	p.A10V	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			2	175	-			10			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.29C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.089677	0.36855	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.03301	3.98	1.02	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.08891	0.0220	M	0.67625	2.065	0.09310	N	1	P;P	0.45126	0.851;0.698	P;P	0.52386	0.697;0.654	T	0.18209	-1.0344	9	0.56958	D	0.05	.	5.2452	0.15493	0.0:0.0:1.0:0.0	.	10;10	Q96QM1;Q68DY1	.;ZN626_HUMAN	V	10	ENSP00000291750:A10V	ENSP00000291750:A10V	A	-	2	0	ZNF626	20621026	0.814000	0.29104	0.162000	0.22713	0.153000	0.21895	1.899000	0.39818	0.439000	0.26476	0.442000	0.29010	GCC		0.413	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		52	95	0	0	0	1	0	52	95				
LAMA4	3910	broad.mit.edu	37	6	112440445	112440445	+	Missense_Mutation	SNP	G	G	A	rs367951149		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112440445G>A	ENST00000230538.7	-	34	5132	c.4735C>T	c.(4735-4737)Ctt>Ttt	p.L1579F	LAMA4_ENST00000424408.2_Missense_Mutation_p.L1572F|LAMA4_ENST00000389463.4_Missense_Mutation_p.L1572F|LAMA4_ENST00000522006.1_Missense_Mutation_p.L1572F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1579	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTAGGAGGAAGACTTTCTTCT	0.468																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4735-4737)Ctt>Ttt		laminin, alpha 4		G	PHE/LEU,PHE/LEU,PHE/LEU	0,4406		0,0,2203	129.0	125.0	126.0		4735,4714,4714	3.7	1.0	6		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	22,22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	1579/1824,1572/1817,1572/1817	112440445	1,13005	2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440445G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4735C>T	6.37:g.112440445G>A	ENSP00000230538:p.Leu1579Phe					LAMA4_ENST00000389463.4_Missense_Mutation_p.L1572F|LAMA4_ENST00000424408.2_Missense_Mutation_p.L1572F|LAMA4_ENST00000522006.1_Missense_Mutation_p.L1572F	p.L1579F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	5132	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1579			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4735C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185217	0.38609	0.0	1.16E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.69	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.389160	0.28871	N	0.013870	T	0.32585	0.0834	N	0.11364	0.135	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.41324	-0.9515	10	0.09084	T	0.74	.	3.5375	0.07799	0.1154:0.1652:0.5494:0.17	.	1579;1572	Q16363;Q16363-2	LAMA4_HUMAN;.	F	1579;1572;1572;1572	ENSP00000230538:L1579F;ENSP00000429488:L1572F;ENSP00000374114:L1572F;ENSP00000416470:L1572F	ENSP00000230538:L1579F	L	-	1	0	LAMA4	112547138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.242000	0.32755	2.692000	0.91855	0.555000	0.69702	CTT		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		39	46	0	0	0	1	0	39	46				
CNTN4	152330	broad.mit.edu	37	3	3085292	3085292	+	Silent	SNP	C	C	T	rs144260163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3085292C>T	ENST00000397461.1	+	22	3099	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	CNTN4_ENST00000448906.2_Silent_p.P577P|CNTN4_ENST00000358480.3_Silent_p.P686P|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.P577P|CNTN4_ENST00000427331.1_Silent_p.P905P|CNTN4_ENST00000418658.1_Silent_p.P905P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	905	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCAACCCCCCGGAAACATCA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18275	0.0		0.0	False		,,,				2504	0.0					ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2713-2715)ccC>ccT		contactin 4		C	,,,	2,4404	4.2+/-10.8	0,2,2201	59.0	61.0	60.0		2715,1728,2715,1731	-6.2	0.9	3	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,	905/1027,576/698,905/1027,577/699	3085292	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3085292C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2715C>T	3.37:g.3085292C>T						CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.P577P|CNTN4_ENST00000358480.3_Silent_p.P686P|CNTN4_ENST00000448906.2_Silent_p.P577P|CNTN4_ENST00000418658.1_Silent_p.P905P|CNTN4_ENST00000427331.1_Silent_p.P905P	p.P905P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	22	3099	+		Ovarian(110;0.156)	905			Fibronectin type-III 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.2715C>T	CCDS43041.1																																																																																				0.373	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			33	44	0	0	0	1	0	33	44				
PAX9	5083	broad.mit.edu	37	14	37145538	37145538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:37145538C>T	ENST00000361487.6	+	4	1132	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q303*|PAX9_ENST00000554201.1_3'UTR|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	303					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACATGGGTGGCAACATGCTGG	0.557																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(907-909)Caa>Taa		paired box 9							194.0	162.0	173.0					14																	37145538		2203	4300	6503	SO:0001587	stop_gained	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145538C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.907C>T	14.37:g.37145538C>T	ENSP00000355245:p.Gln303*					PAX9_ENST00000402703.2_Nonsense_Mutation_p.Q303*|PAX9_ENST00000554201.1_3'UTR|PAX9_ENST00000557107.1_3'UTR	p.Q303*			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	4	1132	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		303					Q99582|Q9UQR4	Nonsense_Mutation	SNP	ENST00000361487.6	37	c.907C>T	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	42	9.339727	0.99142	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	.	.	.	6.16	6.16	0.99307	.	0.139266	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000355245:Q303X	Q	+	1	0	PAX9	36215289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.142000	0.77339	2.937000	0.99478	0.650000	0.86243	CAA		0.557	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			40	58	0	0	0	1	0	40	58				
FKBP15	23307	broad.mit.edu	37	9	115935780	115935780	+	Missense_Mutation	SNP	C	C	T	rs368555848		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115935780C>T	ENST00000238256.3	-	23	2602	c.2485G>A	c.(2485-2487)Gca>Aca	p.A829T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	829					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCTCTCTGTGCGCACACCTCC	0.488																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(2485-2487)Gca>Aca		FK506 binding protein 15, 133kDa		C	THR/ALA	0,4030		0,0,2015	86.0	85.0	85.0		2485	3.3	0.9	9		85	1,8357		0,1,4178	no	missense	FKBP15	NM_015258.1	58	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	benign	829/1220	115935780	1,12387	2015	4179	6194	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115935780C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2485G>A	9.37:g.115935780C>T	ENSP00000238256:p.Ala829Thr						p.A829T	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			23	2602	-			829					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.2485G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029378	0.35797	0.0	1.2E-4	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.22945	1.93;1.94	5.16	3.32	0.38043	.	.	.	.	.	T	0.14657	0.0354	L	0.33485	1.01	0.24350	N	0.994927	B;B	0.31817	0.341;0.017	B;B	0.19148	0.024;0.004	T	0.21449	-1.0245	9	0.12430	T	0.62	-4.2211	8.1013	0.30859	0.0:0.8137:0.0:0.1863	.	410;829	B4DVS2;Q5T1M5	.;FKB15_HUMAN	T	854;829	ENSP00000416158:A854T;ENSP00000238256:A829T	ENSP00000238256:A829T	A	-	1	0	FKBP15	114975601	0.912000	0.30974	0.863000	0.33907	0.968000	0.65278	2.767000	0.47637	0.690000	0.31570	0.651000	0.88453	GCA		0.488	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		23	30	0	0	0	1	0	23	30				
EZH1	2145	broad.mit.edu	37	17	40870502	40870502	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40870502G>A	ENST00000428826.2	-	9	1022	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	EZH1_ENST00000590078.1_Missense_Mutation_p.R231C|EZH1_ENST00000592743.1_Missense_Mutation_p.R301C|EZH1_ENST00000435174.1_Missense_Mutation_p.R162C|EZH1_ENST00000585893.1_Missense_Mutation_p.R261C|EZH1_ENST00000415827.2_Missense_Mutation_p.R292C			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	301					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTAAAGCAGCGCCGGCAAAAA	0.532																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(901-903)Cgc>Tgc		enhancer of zeste homolog 1 (Drosophila)							84.0	77.0	80.0					17																	40870502		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870502G>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.901C>T	17.37:g.40870502G>A	ENSP00000404658:p.Arg301Cys					EZH1_ENST00000590078.1_Missense_Mutation_p.R231C|EZH1_ENST00000585893.1_Missense_Mutation_p.R261C|EZH1_ENST00000435174.1_Missense_Mutation_p.R162C|EZH1_ENST00000415827.2_Missense_Mutation_p.R292C|EZH1_ENST00000592743.1_Missense_Mutation_p.R301C	p.R301C			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1022	-		Breast(137;0.00104)	301					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.901C>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126195	0.94429	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80123	-1.34;-1.34	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.89308	0.6678	M	0.86420	2.815	0.80722	D	1	P;D;P;D	0.60575	0.839;0.988;0.944;0.98	B;P;P;P	0.57009	0.347;0.811;0.714;0.651	D	0.91336	0.5093	10	0.72032	D	0.01	.	18.2284	0.89926	0.0:0.0:1.0:0.0	.	162;261;307;301	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	C	304;301;261;162	ENSP00000404658:R301C;ENSP00000404071:R162C	ENSP00000264646:R304C	R	-	1	0	EZH1	38124028	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.573000	0.98181	2.605000	0.88082	0.655000	0.94253	CGC		0.532	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		8	33	0	0	0	1	0	8	33				
OR4M1	441670	broad.mit.edu	37	14	20248781	20248781	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20248781G>A	ENST00000315957.4	+	1	381	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATTGCACAGCTCTTCTTCT	0.468																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(298-300)caG>caA		olfactory receptor, family 4, subfamily M, member 1							245.0	264.0	257.0					14																	20248781		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248781G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.300G>A	14.37:g.20248781G>A							p.Q100Q	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	381	+	all_cancers(95;0.00108)		100					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.300G>A	CCDS32021.1																																																																																				0.468	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			63	111	0	0	0	1	0	63	111				
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168281192G>A	ENST00000447894.2	+	6	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(892-894)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99.0	110.0	106.0					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.892G>A	6.37:g.168281192G>A	ENSP00000404595:p.Ala298Thr					MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T	p.A298T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404298|4.404298	0.83230|0.83230	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.69078|.	0.997;0.965;0.965|.	P;P;P|.	0.59825|.	0.864;0.698;0.637|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.54805|.	T|.	0.06|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	T|H	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298T;ENSP00000252692:A298T;ENSP00000375956:A298T;ENSP00000355771:A298T;ENSP00000375960:A297T;ENSP00000383623:A297T;ENSP00000404595:A298T|.	ENSP00000345834:A298T|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		49	82	0	0	0	1	0	49	82				
OSBPL2	9885	broad.mit.edu	37	20	60859167	60859167	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60859167C>T	ENST00000313733.3	+	10	1140	c.938C>T	c.(937-939)tCg>tTg	p.S313L	OSBPL2_ENST00000439951.2_Missense_Mutation_p.S221L|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S301L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	313					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GATCCTGTTTCGTATGAATCC	0.483																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(937-939)tCg>tTg		oxysterol binding protein-like 2							100.0	92.0	95.0					20																	60859167		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60859167C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.938C>T	20.37:g.60859167C>T	ENSP00000316649:p.Ser313Leu					OSBPL2_ENST00000439951.2_Missense_Mutation_p.S221L|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S301L	p.S313L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		10	1140	+	Breast(26;7.76e-09)		313					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.938C>T	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777285	0.16120	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.33216	1.42;1.42;1.42	5.2	5.2	0.72013	.	0.384991	0.29073	N	0.013234	T	0.27765	0.0683	L	0.33624	1.015	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.0;0.001	B;B;B;B	0.11329	0.006;0.002;0.001;0.002	T	0.10177	-1.0641	10	0.34782	T	0.22	-14.6156	18.6933	0.91592	0.0:1.0:0.0:0.0	.	221;313;301;313	E7ET92;B2RDK3;Q9H1P3-2;Q9H1P3	.;.;.;OSBL2_HUMAN	L	301;313;221	ENSP00000350755:S301L;ENSP00000316649:S313L;ENSP00000397602:S221L	ENSP00000316649:S313L	S	+	2	0	OSBPL2	60292562	0.002000	0.14202	0.005000	0.12908	0.006000	0.05464	1.752000	0.38349	2.568000	0.86640	0.655000	0.94253	TCG		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		30	29	0	0	0	1	0	30	29				
ARHGEF40	55701	broad.mit.edu	37	14	21541329	21541329	+	Silent	SNP	C	C	T	rs371983969		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21541329C>T	ENST00000298694.4	+	2	256	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NDRG2_ENST00000403829.3_5'Flank|ARHGEF40_ENST00000298693.3_Silent_p.D43D			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	43						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ATCGGGAGGACGCACTGAGGT	0.607																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(127-129)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 40		C		0,4406		0,0,2203	94.0	73.0	80.0		129	0.8	1.0	14		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGEF40	NM_018071.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		43/1520	21541329	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21541329C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.129C>T	14.37:g.21541329C>T						ARHGEF40_ENST00000298693.3_Silent_p.D43D	p.D43D			Q8TER5	ARH40_HUMAN			2	256	+			43					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.129C>T	CCDS32041.1																																																																																				0.607	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	17	0	0	0	1	0	8	17				
WWP1	11059	broad.mit.edu	37	8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H|WWP1_ENST00000265428.4_Missense_Mutation_p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1633-1635)cGc>cAc		WW domain containing E3 ubiquitin protein ligase 1							88.0	89.0	89.0					8																	87447713		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87447713G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1634G>A	8.37:g.87447713G>A	ENSP00000427793:p.Arg545His					WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	p.R545H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			15	1941	+			545					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1634G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069886	0.76301	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.55052	0.54;0.54;0.61;0.62	5.58	5.58	0.84498	HECT (1);	0.057189	0.64402	D	0.000001	T	0.66096	0.2755	M	0.93678	3.445	0.80722	D	1	B;B	0.27286	0.021;0.174	B;B	0.15484	0.004;0.013	T	0.71224	-0.4656	10	0.87932	D	0	.	19.5693	0.95406	0.0:0.0:1.0:0.0	.	327;545	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	H	545;545;415;327	ENSP00000427793:R545H;ENSP00000265428:R545H;ENSP00000340564:R415H;ENSP00000342665:R327H	ENSP00000265428:R545H	R	+	2	0	WWP1	87516829	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.412000	0.97347	2.615000	0.88500	0.555000	0.69702	CGC		0.299	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	51	0	0	0	1	0	22	51				
MOAP1	64112	broad.mit.edu	37	14	93653013	93653013	+	5'Flank	SNP	G	G	A	rs535664901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93653013G>A	ENST00000556883.1	-	0	0				TMEM251_ENST00000415050.2_Silent_p.T169T|RP11-371E8.4_ENST00000557574.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Silent_p.T131T|RP11-371E8.4_ENST00000557048.1_Intron			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		TGATTGACACGTAAAATCAGT	0.428																																						ENST00000415050.2																			0											c.(505-507)acG>acA		transmembrane protein 251							109.0	102.0	105.0					14																	93653013		1905	4139	6044	SO:0001631	upstream_gene_variant	26175							g.chr14:93653013G>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93653013G>A	Exception_encountered					RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000283534.4_Silent_p.T131T	p.T169T	NM_001098621.1	NP_001092091.1					2	882	+								B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	c.507G>A	CCDS9908.1																																																																																				0.428	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			48	69	0	0	0	1	0	48	69				
HK3	3101	broad.mit.edu	37	5	176310871	176310871	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176310871C>A	ENST00000292432.5	-	15	2045		c.e15-1			NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCACTGCCTGCACACAAA	0.582																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e15-1		hexokinase 3 (white cell)							186.0	143.0	157.0					5																	176310871		2203	4300	6503	SO:0001630	splice_region_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310871C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1954-1G>T	5.37:g.176310871C>A								NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2045	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)						Q8N1E7	Splice_Site	SNP	ENST00000292432.5	37		CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806037	0.70682	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HK3	176243477	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.472000	0.80996	2.667000	0.90743	0.462000	0.41574	.		0.582	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Intron	27	54	1	0	4.22769e-11	1	4.54161e-11	27	54				
SH2B2	10603	broad.mit.edu	37	7	101960818	101960818	+	Silent	SNP	C	C	T	rs371577042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101960818C>T	ENST00000536178.1	+	9	1578	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	SH2B2_ENST00000306803.8_Silent_p.N471N			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191, ECO:0000305}.				actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGTCCCTGAACGGCCACGGCC	0.637																																						ENST00000536178.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(1531-1533)aaC>aaT		SH2B adaptor protein 2		C		0,4318		0,0,2159	62.0	68.0	66.0		1296	-2.9	1.0	7		66	1,8501		0,1,4250	no	coding-synonymous	SH2B2	NM_020979.3		0,1,6409	TT,TC,CC		0.0118,0.0,0.0078		432/593	101960818	1,12819	2159	4251	6410	SO:0001819	synonymous_variant	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101960818C>T	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1533C>T	7.37:g.101960818C>T						SH2B2_ENST00000306803.8_Silent_p.N471N	p.N511N			O14492	SH2B2_HUMAN			9	1578	+			472			SH2.		A6ND74	Silent	SNP	ENST00000536178.1	37	c.1533C>T		.	.	.	.	.	.	.	.	.	.	.	9.967	1.224457	0.22457	0.0	1.18E-4	ENSG00000160999	ENST00000432527	.	.	.	4.57	-2.92	0.05615	.	.	.	.	.	T	0.48714	0.1515	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.56631	-0.7947	3	.	.	.	-26.3054	12.5741	0.56354	0.0:0.292:0.0:0.708	.	.	.	.	M	77	.	.	T	+	2	0	SH2B2	101747538	0.001000	0.12720	0.977000	0.42913	0.995000	0.86356	-1.728000	0.01858	-0.623000	0.05618	-0.119000	0.15052	ACG		0.637	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		22	38	0	0	0	1	0	22	38				
TEFM	79736	broad.mit.edu	37	17	29231393	29231393	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29231393G>A	ENST00000581216.1	-	2	807	c.186C>T	c.(184-186)gaC>gaT	p.D62D	TEFM_ENST00000580840.1_Silent_p.D62D	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	62					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										AGAAGAGCTTGTCAAGTGCAT	0.398																																						ENST00000580840.1																			0											c.(184-186)gaC>gaT		transcription elongation factor, mitochondrial							72.0	69.0	69.0					17																	29231393		1851	4101	5952	SO:0001819	synonymous_variant	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29231393G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.186C>T	17.37:g.29231393G>A						TEFM_ENST00000581216.1_Silent_p.D62D	p.D62D			Q96QE5	TEFM_HUMAN			2	222	-			62					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Silent	SNP	ENST00000581216.1	37	c.186C>T	CCDS42291.1																																																																																				0.398	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683		16	61	0	0	0	1	0	16	61				
ARHGAP19	84986	broad.mit.edu	37	10	99025877	99025877	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99025877G>A	ENST00000358531.4	-	2	90	c.62C>T	c.(61-63)gCc>gTc	p.A21V	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.A12V|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.A21V|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.A12V	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ACTGCAGATGGCATCACTGAA	0.408																																						ENST00000453547.2																			0											c.(61-63)gCc>gTc									73.0	72.0	73.0					10																	99025877		2203	4300	6503	SO:0001583	missense	0							g.chr10:99025877G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.62C>T	10.37:g.99025877G>A	ENSP00000351333:p.Ala21Val					ARHGAP19_ENST00000358531.4_Missense_Mutation_p.A21V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.A21V|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.A12V|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.A21V|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.A12V	p.A21V							2	61	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.62C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025645	0.75390	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.10668	2.88;2.92;2.92;2.92;2.93;2.85	5.54	5.54	0.83059	.	0.254426	0.30538	U	0.009408	T	0.16300	0.0392	N	0.19112	0.55	0.46044	D	0.99883	D;D;B	0.59767	0.986;0.976;0.141	P;P;B	0.53593	0.73;0.541;0.041	T	0.01626	-1.1309	10	0.72032	D	0.01	-7.1654	19.4669	0.94946	0.0:0.0:1.0:0.0	.	21;21;12	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	V	21;21;12;21;12;21	ENSP00000414774:A21V;ENSP00000324468:A21V;ENSP00000347526:A12V;ENSP00000351333:A21V;ENSP00000360066:A12V;ENSP00000351058:A21V	ENSP00000324468:A21V	A	-	2	0	ARHGAP19	99015867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.653000	0.83643	2.581000	0.87130	0.557000	0.71058	GCC		0.408	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		30	42	0	0	0	1	0	30	42				
RANBP3	8498	broad.mit.edu	37	19	5933453	5933453	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5933453C>T	ENST00000340578.6	-	6	501	c.444G>A	c.(442-444)acG>acA	p.T148T	RANBP3_ENST00000034275.8_Silent_p.T80T|RANBP3_ENST00000591092.1_Silent_p.T80T|RANBP3_ENST00000439268.2_Silent_p.T148T|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Silent_p.T20T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	148					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGTGGATCAGCGTTGGTGGCT	0.622																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(442-444)acG>acA		RAN binding protein 3							38.0	44.0	42.0					19																	5933453		2030	4188	6218	SO:0001819	synonymous_variant	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5933453C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.444G>A	19.37:g.5933453C>T						RANBP3_ENST00000591092.1_Silent_p.T80T|RANBP3_ENST00000541471.1_Silent_p.T20T|RANBP3_ENST00000034275.8_Silent_p.T80T|RANBP3_ENST00000439268.2_Silent_p.T148T|RANBP3_ENST00000591124.1_5'UTR	p.T148T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			6	501	-			148					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.444G>A	CCDS42478.1																																																																																				0.622	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		9	24	0	0	0	1	0	9	24				
ZNF793	390927	broad.mit.edu	37	19	38028242	38028242	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028242G>A	ENST00000587143.1	+	6	917	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	ZNF793_ENST00000445217.1_Missense_Mutation_p.V228I|ZNF793_ENST00000542455.1_Missense_Mutation_p.V228I|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCCCACGTCTGTAGTGA	0.478																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(682-684)Gtc>Atc		zinc finger protein 793							32.0	33.0	33.0					19																	38028242		2034	4212	6246	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028242G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.682G>A	19.37:g.38028242G>A	ENSP00000468605:p.Val228Ile					ZNF793_ENST00000587143.1_Missense_Mutation_p.V228I|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.V228I	p.V228I			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	717	+			228					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.682G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322029	0.23994	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.07567	3.18;3.18	3.83	0.233	0.15386	.	0.814712	0.10008	N	0.727522	T	0.04272	0.0118	N	0.16037	0.36	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.42498	-0.9448	10	0.62326	D	0.03	.	1.2014	0.01886	0.2077:0.1727:0.4429:0.1768	.	228	E9PGN4	.	I	228;228;228;227	ENSP00000444355:V228I;ENSP00000396402:V228I	ENSP00000318811:V227I	V	+	1	0	ZNF793	42720082	0.000000	0.05858	0.119000	0.21687	0.991000	0.79684	-1.266000	0.02842	0.040000	0.15660	0.643000	0.83706	GTC		0.478	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		11	12	0	0	0	1	0	11	12				
PLK4	10733	broad.mit.edu	37	4	128812837	128812837	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128812837G>A	ENST00000270861.5	+	9	2312		c.e9+1		PLK4_ENST00000515069.1_Splice_Site|PLK4_ENST00000513090.1_Splice_Site|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Splice_Site|PLK4_ENST00000514379.1_Splice_Site	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4						centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AATTTACCAGGTATGTGAATT	0.313																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.e9+1		polo-like kinase 4							76.0	82.0	80.0					4																	128812837		2203	4297	6500	SO:0001630	splice_region_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128812837G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2038+1G>A	4.37:g.128812837G>A						PLK4_ENST00000507249.1_Splice_Site|PLK4_ENST00000515069.1_Splice_Site|PLK4_ENST00000513090.1_Splice_Site|PLK4_ENST00000514379.1_Splice_Site		NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			9	2312	+								B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Splice_Site	SNP	ENST00000270861.5	37		CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668517	0.47677	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3308	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLK4	129032287	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	8.189000	0.89712	2.548000	0.85928	0.467000	0.42956	.		0.313	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		Intron	40	72	0	0	0	1	0	40	72				
ITGA10	8515	broad.mit.edu	37	1	145533448	145533448	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145533448G>A	ENST00000369304.3	+	12	1506	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	ITGA10_ENST00000539363.1_Missense_Mutation_p.R301H|ITGA10_ENST00000538811.1_Missense_Mutation_p.R313H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	444					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGGGTGGACGCCGCCTGTTT	0.527																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1330-1332)cGc>cAc		integrin, alpha 10							112.0	124.0	120.0					1																	145533448		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533448G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1331G>A	1.37:g.145533448G>A	ENSP00000358310:p.Arg444His					ITGA10_ENST00000538811.1_Missense_Mutation_p.R313H|ITGA10_ENST00000539363.1_Missense_Mutation_p.R301H	p.R444H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1506	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		444					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1331G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215713	0.58452	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.71579	-0.58;-0.58;-0.58	5.04	2.17	0.27698	.	0.470541	0.21813	N	0.068726	T	0.55986	0.1955	L	0.47190	1.495	0.46149	D	0.998891	D;P;D;P	0.54772	0.965;0.942;0.968;0.888	P;B;P;B	0.51016	0.656;0.439;0.636;0.336	T	0.54807	-0.8238	10	0.42905	T	0.14	.	8.4618	0.32931	0.2574:0.0:0.7426:0.0	.	410;313;301;444	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	444;410;301;313	ENSP00000358310:R444H;ENSP00000439894:R301H;ENSP00000440011:R313H	ENSP00000358310:R444H	R	+	2	0	ITGA10	144244805	0.888000	0.30383	0.996000	0.52242	0.996000	0.88848	0.555000	0.23422	0.321000	0.23259	-0.140000	0.14226	CGC		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		30	52	0	0	0	1	0	30	52				
AKAP9	10142	broad.mit.edu	37	7	91670089	91670089	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91670089C>T	ENST00000359028.2	+	19	5055	c.4830C>T	c.(4828-4830)taC>taT	p.Y1610Y	AKAP9_ENST00000356239.3_Silent_p.Y1598Y|AKAP9_ENST00000358100.2_Silent_p.Y1610Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1610					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACGACAATACCAAGAACATC	0.413			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4828-4830)taC>taT		A kinase (PRKA) anchor protein 9							132.0	116.0	122.0					7																	91670089		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91670089C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4830C>T	7.37:g.91670089C>T						AKAP9_ENST00000358100.2_Silent_p.Y1610Y|AKAP9_ENST00000356239.3_Silent_p.Y1598Y	p.Y1610Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	5055	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1610					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.4830C>T																																																																																					0.413	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	25	0	0	0	1	0	9	25				
NPTXR	23467	broad.mit.edu	37	22	39218732	39218732	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39218732G>A	ENST00000333039.2	-	5	1508	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	462	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTGCAGTTGGCAATGCCCAG	0.607																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1384-1386)gCc>gTc		neuronal pentraxin receptor							59.0	45.0	49.0					22																	39218732		2203	4300	6503	SO:0001583	missense	23467					integral to membrane	metal ion binding	g.chr22:39218732G>A	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1385C>T	22.37:g.39218732G>A	ENSP00000327545:p.Ala462Val						p.A462V	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			5	1508	-	Melanoma(58;0.04)		462			Pentaxin.			Missense_Mutation	SNP	ENST00000333039.2	37	c.1385C>T	CCDS33647.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450678	0.84101	.	.	ENSG00000221890	ENST00000333039	T	0.60171	0.21	3.76	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.90252	3.1	0.44024	D	0.996749	D	0.76494	0.999	D	0.85130	0.997	D	0.86786	0.1982	9	0.87932	D	0	-37.3641	16.4511	0.83991	0.0:0.0:1.0:0.0	.	462	O95502	NPTXR_HUMAN	V	462	ENSP00000327545:A462V	ENSP00000327545:A462V	A	-	2	0	NPTXR	37548678	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.815000	0.86186	2.037000	0.60232	0.462000	0.41574	GCC		0.607	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		5	14	0	0	0	1	0	5	14				
FOXR1	283150	broad.mit.edu	37	11	118849494	118849494	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118849494G>A	ENST00000317011.3	+	2	289	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	22					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TTTGCCAGTTGCCAGGTATAA	0.438																																						ENST00000317011.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(64-66)Gcc>Acc		forkhead box R1							127.0	129.0	128.0					11																	118849494		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118849494G>A	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.64G>A	11.37:g.118849494G>A	ENSP00000314806:p.Ala22Thr						p.A22T	NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	289	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	22					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.64G>A	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057227	0.76074	.	.	ENSG00000176302	ENST00000317011	D	0.95788	-3.81	4.44	4.44	0.53790	.	1.744140	0.02290	N	0.070224	D	0.96150	0.8745	L	0.61036	1.89	0.35322	D	0.784845	D	0.54047	0.964	P	0.50352	0.638	D	0.89486	0.3753	10	0.29301	T	0.29	.	12.8873	0.58051	0.0:0.0:1.0:0.0	.	22	Q6PIV2	FOXR1_HUMAN	T	22	ENSP00000314806:A22T	ENSP00000314806:A22T	A	+	1	0	FOXR1	118354704	0.998000	0.40836	0.997000	0.53966	0.089000	0.18198	2.382000	0.44345	2.769000	0.95229	0.655000	0.94253	GCC		0.438	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		29	37	0	0	0	1	0	29	37				
DNA2	1763	broad.mit.edu	37	10	70229775	70229775	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70229775G>C	ENST00000358410.3	-	2	270	c.220C>G	c.(220-222)Cta>Gta	p.L74V	DNA2_ENST00000399179.2_Missense_Mutation_p.L74V|DNA2_ENST00000399180.2_Missense_Mutation_p.L160V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	74					ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTATTTTCTAGTGACTGTGAA	0.413																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(478-480)Cta>Gta		DNA replication helicase/nuclease 2							102.0	90.0	94.0					10																	70229775		1865	4098	5963	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70229775G>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.220C>G	10.37:g.70229775G>C	ENSP00000351185:p.Leu74Val					DNA2_ENST00000399179.2_Missense_Mutation_p.L74V|DNA2_ENST00000358410.3_Missense_Mutation_p.L74V	p.L160V			P51530	DNA2L_HUMAN			2	477	-			74					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.478C>G		.	.	.	.	.	.	.	.	.	.	G	10.74	1.436322	0.25813	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93763	-2.78;-3.28;-2.76	5.43	3.54	0.40534	DNA replication factor Dna2 (1);	1.390360	0.04763	N	0.426647	D	0.91469	0.7307	L	0.48362	1.52	0.09310	N	1	P;P	0.44344	0.718;0.833	B;B	0.42882	0.221;0.401	T	0.81326	-0.0983	10	0.30078	T	0.28	.	9.3008	0.37845	0.0762:0.2689:0.6549:0.0	.	74;74	F8VR31;P51530	.;DNA2L_HUMAN	V	74;160;74;74	ENSP00000382133:L160V;ENSP00000382132:L74V;ENSP00000351185:L74V	ENSP00000351185:L74V	L	-	1	2	DNA2	69899781	0.048000	0.20356	0.043000	0.18650	0.685000	0.39939	1.675000	0.37555	1.259000	0.44117	0.491000	0.48974	CTA		0.413	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			21	35	0	0	0	1	0	21	35				
ANKRD30B	374860	broad.mit.edu	37	18	14787086	14787086	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:14787086C>T	ENST00000358984.4	+	15	1901	c.1721C>T	c.(1720-1722)tCt>tTt	p.S574F	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S574F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	574										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAAAATTCTTGGGATTCT	0.303																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1720-1722)tCt>tTt		ankyrin repeat domain 30B							169.0	143.0	151.0					18																	14787086		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787086C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1721C>T	18.37:g.14787086C>T	ENSP00000351875:p.Ser574Phe					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S574F|ANKRD30B_ENST00000579292.1_Intron	p.S574F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1901	+			574					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1721C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	9.317	1.056954	0.19907	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.07114	3.22;3.22	1.15	1.15	0.20763	.	.	.	.	.	T	0.09686	0.0238	L	0.53249	1.67	0.09310	N	1	D	0.58268	0.982	P	0.44518	0.452	T	0.25363	-1.0134	9	0.87932	D	0	.	5.7266	0.18017	0.0:1.0:0.0:0.0	.	574	F8WAG3	.	F	574	ENSP00000351875:S574F;ENSP00000399031:S574F	ENSP00000351875:S574F	S	+	2	0	ANKRD30B	14777086	0.724000	0.28038	0.148000	0.22405	0.003000	0.03518	1.007000	0.29860	0.948000	0.37687	0.289000	0.19496	TCT		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		9	42	0	0	0	1	0	9	42				
PDCD11	22984	broad.mit.edu	37	10	105201637	105201637	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105201637G>A	ENST00000369797.3	+	31	4706	c.4612G>A	c.(4612-4614)Gct>Act	p.A1538T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1538					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTCAGGCTTCGCTTGGAATGT	0.597																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4612-4614)Gct>Act		programmed cell death 11							48.0	54.0	52.0					10																	105201637		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201637G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4612G>A	10.37:g.105201637G>A	ENSP00000358812:p.Ala1538Thr						p.A1538T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4706	+		Colorectal(252;0.0747)|Breast(234;0.128)	1538					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4612G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574784	0.13623	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09255	3.0	5.5	-2.7	0.06004	.	0.818934	0.11741	N	0.534014	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43972	-0.9358	10	0.13470	T	0.59	0.7332	2.5405	0.04724	0.4766:0.211:0.2049:0.1075	.	1538	Q14690	RRP5_HUMAN	T	1538;1196	ENSP00000358812:A1538T	ENSP00000358812:A1538T	A	+	1	0	PDCD11	105191627	0.000000	0.05858	0.074000	0.20217	0.558000	0.35554	-0.597000	0.05713	-0.704000	0.05042	0.561000	0.74099	GCT		0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	24	0	0	0	1	0	6	24				
DNMT3B	1789	broad.mit.edu	37	20	31386391	31386391	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31386391G>A	ENST00000328111.2	+	15	1937	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R477Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R531Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R519Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R443Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	539	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGCGGCGCCGGAAGGACTGG	0.642																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1615-1617)cGg>cAg		DNA (cytosine-5-)-methyltransferase 3 beta							43.0	48.0	46.0					20																	31386391		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31386391G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1616G>A	20.37:g.31386391G>A	ENSP00000328547:p.Arg539Gln					DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R519Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R477Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R443Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R519Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R531Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R519Q	p.R539Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			15	1937	+			539			ADD.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1616G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650408	0.96714	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.76	5.76	0.90799	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.977;0.918;0.918;0.978;0.974;0.978;0.999	D	0.90605	0.4547	10	0.66056	D	0.02	-27.6164	19.3309	0.94288	0.0:0.0:1.0:0.0	.	443;477;238;531;519;519;539	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	Q	539;519;519;477;443;519;531	ENSP00000328547:R539Q;ENSP00000313397:R519Q;ENSP00000337764:R519Q;ENSP00000403169:R477Q;ENSP00000412305:R443Q;ENSP00000345105:R519Q;ENSP00000201963:R531Q	ENSP00000201963:R531Q	R	+	2	0	DNMT3B	30850052	0.999000	0.42202	0.813000	0.32504	0.804000	0.45430	7.937000	0.87672	2.880000	0.98712	0.650000	0.86243	CGG		0.642	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	23	0	0	0	1	0	6	23				
ABCA3	21	broad.mit.edu	37	16	2329104	2329104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2329104G>A	ENST00000301732.5	-	29	5087	c.4387C>T	c.(4387-4389)Cag>Tag	p.Q1463*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Q1405*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1463	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCATCAAACTGCGGGCAGTAG	0.677																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4387-4389)Cag>Tag		ATP-binding cassette, sub-family A (ABC1), member 3							37.0	39.0	38.0					16																	2329104		2198	4298	6496	SO:0001587	stop_gained	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2329104G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4387C>T	16.37:g.2329104G>A	ENSP00000301732:p.Gln1463*					ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Q1405*	p.Q1463*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			29	5087	-		Ovarian(90;0.17)	1463			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	c.4387C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862806	0.71949	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6492	0.88158	0.0:0.0:1.0:0.0	.	.	.	.	X	1463;1467	.	ENSP00000301732:Q1463X	Q	-	1	0	ABCA3	2269105	1.000000	0.71417	0.995000	0.50966	0.392000	0.30506	9.777000	0.99008	2.506000	0.84524	0.561000	0.74099	CAG		0.677	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	30	0	0	0	1	0	17	30				
FBXL7	23194	broad.mit.edu	37	5	15936658	15936658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936658C>T	ENST00000504595.1	+	4	1320	c.839C>T	c.(838-840)aCg>aTg	p.T280M	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	280					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGGACATGACGGACTGCTTC	0.612																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(838-840)aCg>aTg		F-box and leucine-rich repeat protein 7							71.0	72.0	72.0					5																	15936658		2183	4287	6470	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936658C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.839C>T	5.37:g.15936658C>T	ENSP00000423630:p.Thr280Met					FBXL7_ENST00000329673.7_Missense_Mutation_p.T268M|FBXL7_ENST00000510662.1_Missense_Mutation_p.T233M	p.T280M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1320	+			280					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.839C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190915	0.78789	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02421	4.3;4.3;4.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.56343	0.796	T	0.29181	-1.0020	10	0.59425	D	0.04	.	15.0679	0.72011	0.0:0.8577:0.1423:0.0	.	280	Q9UJT9	FBXL7_HUMAN	M	280;233;268	ENSP00000423630:T280M;ENSP00000425184:T233M;ENSP00000329632:T268M	ENSP00000329632:T268M	T	+	2	0	FBXL7	15989658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.868000	0.63021	2.414000	0.81942	0.655000	0.94253	ACG		0.612	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		21	12	0	0	0	1	0	21	12				
PNLIPRP3	119548	broad.mit.edu	37	10	118228729	118228729	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118228729C>T	ENST00000369230.3	+	9	1106	c.960C>T	c.(958-960)tgC>tgT	p.C320C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	320					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGGTTGCCCAACAATGG	0.353																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(958-960)tgC>tgT		pancreatic lipase-related protein 3							79.0	80.0	80.0					10																	118228729		2203	4299	6502	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118228729C>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.960C>T	10.37:g.118228729C>T							p.C320C	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	9	1106	+			320						Silent	SNP	ENST00000369230.3	37	c.960C>T	CCDS31292.1																																																																																				0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	55	0	0	0	1	0	8	55				
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H	snoU13_ENST00000459352.1_RNA	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(208-210)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							101.0	108.0	106.0					4																	169229212		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169229212C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.209G>A	4.37:g.169229212C>T	ENSP00000377344:p.Arg70His						p.R70H	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	4	500	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	70					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.209G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.993	-0.004024	0.07773	.	.	ENSG00000137628	ENST00000393743;ENST00000514995	T	0.20881	2.04	4.87	2.11	0.27256	.	0.916407	0.09361	N	0.812697	T	0.18593	0.0446	L	0.59436	1.845	0.09310	N	1	B	0.25521	0.128	B	0.17098	0.017	T	0.30621	-0.9972	10	0.41790	T	0.15	.	3.359	0.07179	0.1398:0.5734:0.1355:0.1513	.	70	Q8IY21	DDX60_HUMAN	H	70	ENSP00000377344:R70H	ENSP00000377344:R70H	R	-	2	0	DDX60	169465787	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.569000	0.05902	0.314000	0.23086	0.557000	0.71058	CGC		0.338	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		38	62	0	0	0	1	0	38	62				
SPTBN4	57731	broad.mit.edu	37	19	41063166	41063166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41063166G>A	ENST00000352632.3	+	26	5613	c.5527G>A	c.(5527-5529)Gcc>Acc	p.A1843T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A586T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A519T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1843T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1843T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1843					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A519S(1)|p.A1843S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTCAGTGACGCCCGAGAGCT	0.662																																						ENST00000352632.3																			2	Substitution - Missense(2)	p.A519S(1)|p.A1843S(1)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5527-5529)Gcc>Acc		spectrin, beta, non-erythrocytic 4							26.0	30.0	29.0					19																	41063166		2203	4299	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063166G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5527G>A	19.37:g.41063166G>A	ENSP00000263373:p.Ala1843Thr					SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A519T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1843T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A586T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1843T	p.A1843T			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5613	+			1843					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5527G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742149	0.69418	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	3.63	3.63	0.41609	.	0.197662	0.35936	N	0.002898	T	0.55000	0.1893	L	0.39898	1.24	0.31596	N	0.653332	D;D;D;D	0.65815	0.995;0.986;0.992;0.993	P;P;P;P	0.51974	0.565;0.548;0.515;0.686	T	0.63171	-0.6697	10	0.62326	D	0.03	.	8.8292	0.35074	0.0:0.0:0.6445:0.3555	.	586;519;1843;1843	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	T	1843;1843;1843;586;519	ENSP00000263373:A1843T;ENSP00000340345:A1843T;ENSP00000375879:A586T;ENSP00000375877:A519T	ENSP00000340345:A1843T	A	+	1	0	SPTBN4	45755006	0.359000	0.24955	0.985000	0.45067	0.867000	0.49689	1.563000	0.36364	2.036000	0.60181	0.455000	0.32223	GCC		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			14	25	0	0	0	1	0	14	25				
RAPGEF2	9693	broad.mit.edu	37	4	160277143	160277143	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:160277143G>A	ENST00000264431.4	+	23	4726	c.4307G>A	c.(4306-4308)cGg>cAg	p.R1436Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1436					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGAGATCGCGGATGGTCGCA	0.587																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4306-4308)cGg>cAg		Rap guanine nucleotide exchange factor (GEF) 2							33.0	36.0	35.0					4																	160277143		2125	4231	6356	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277143G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4307G>A	4.37:g.160277143G>A	ENSP00000264431:p.Arg1436Gln						p.R1436Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4726	+	all_hematologic(180;0.24)		1436					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4307G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588916	0.66105	.	.	ENSG00000109756	ENST00000264431	T	0.47869	0.83	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.46157	1.445	0.58432	D	0.999999	P	0.47762	0.9	B	0.38755	0.281	T	0.50389	-0.8834	10	0.59425	D	0.04	.	19.504	0.95108	0.0:0.0:1.0:0.0	.	1436	Q9Y4G8	RPGF2_HUMAN	Q	1436	ENSP00000264431:R1436Q	ENSP00000264431:R1436Q	R	+	2	0	RAPGEF2	160496593	1.000000	0.71417	0.925000	0.36789	0.018000	0.09664	9.001000	0.93568	2.606000	0.88127	0.563000	0.77884	CGG		0.587	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		5	8	0	0	0	1	0	5	8				
SNRNP40	9410	broad.mit.edu	37	1	31734425	31734425	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31734425G>A	ENST00000263694.4	-	9	993	c.975C>T	c.(973-975)ggC>ggT	p.G325G	SNRNP40_ENST00000373720.3_Silent_p.G95G|SNRNP40_ENST00000446633.2_Silent_p.G325G|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	325					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGCCAGCATGGCCGGGCAGCT	0.498																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(973-975)ggC>ggT		small nuclear ribonucleoprotein 40kDa (U5)							84.0	75.0	78.0					1																	31734425		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31734425G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.975C>T	1.37:g.31734425G>A						SNRNP40_ENST00000373720.3_Silent_p.G95G|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Silent_p.G325G	p.G325G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			9	993	-			325					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.975C>T	CCDS340.1																																																																																				0.498	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		4	44	0	0	0	1	0	4	44				
OR2L13	284521	broad.mit.edu	37	1	248262906	248262906	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248262906G>A	ENST00000358120.2	+	2	374	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	OR2L13_ENST00000366478.2_Missense_Mutation_p.V77I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V77I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCCACCACCGTCCCCAAGAT	0.532																																						ENST00000366478.2																			2	Substitution - Missense(2)	p.V77I(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(229-231)Gtc>Atc		olfactory receptor, family 2, subfamily L, member 13							231.0	205.0	214.0					1																	248262906		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262906G>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.229G>A	1.37:g.248262906G>A	ENSP00000350836:p.Val77Ile					OR2L13_ENST00000358120.2_Missense_Mutation_p.V77I	p.V77I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	566	+	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)		77					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.229G>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620154	0.14193	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.02787	4.16;4.16	4.07	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001373	T	0.06416	0.0165	L	0.46947	1.48	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.31916	-0.9926	10	0.56958	D	0.05	.	1.0854	0.01651	0.3866:0.1477:0.3147:0.1511	.	77	Q8N349	OR2LD_HUMAN	I	77	ENSP00000355434:V77I;ENSP00000350836:V77I	ENSP00000350836:V77I	V	+	1	0	OR2L13	246329529	0.000000	0.05858	0.053000	0.19242	0.422000	0.31414	-4.011000	0.00314	0.027000	0.15297	-0.157000	0.13467	GTC		0.532	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		36	65	0	0	0	1	0	36	65				
TBC1D12	23232	broad.mit.edu	37	10	96162451	96162451	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96162451C>T	ENST00000225235.4	+	1	191	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	27							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ACCCCGTGGGCCAGGACAGGA	0.721																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(79-81)ggC>ggT		TBC1 domain family, member 12							7.0	9.0	8.0					10																	96162451		1851	4000	5851	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96162451C>T	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.81C>T	10.37:g.96162451C>T							p.G27G	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	191	+		Colorectal(252;0.0429)	27					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.81C>T	CCDS41553.1																																																																																				0.721	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			11	6	0	0	0	1	0	11	6				
TLR4	7099	broad.mit.edu	37	9	120475801	120475801	+	Silent	SNP	C	C	T	rs200649353		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:120475801C>T	ENST00000355622.6	+	3	1496	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G425G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	465					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTTTCAATGGCATCTTCAATG	0.398																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1393-1395)ggC>ggT		toll-like receptor 4							101.0	103.0	102.0					9																	120475801		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475801C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1395C>T	9.37:g.120475801C>T						TLR4_ENST00000394487.4_Silent_p.G425G|TLR4_ENST00000472304.1_3'UTR	p.G465G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1496	+			465					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1395C>T	CCDS6818.1																																																																																				0.398	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		29	72	0	0	0	1	0	29	72				
CELF2	10659	broad.mit.edu	37	10	11207596	11207596	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:11207596C>T	ENST00000379261.4	+	2	293	c.201C>T	c.(199-201)taC>taT	p.Y67Y	CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000542579.1_Silent_p.Y74Y|CELF2_ENST00000354440.2_Silent_p.Y43Y|CELF2_ENST00000399850.3_Silent_p.Y43Y|CELF2_ENST00000354897.3_Silent_p.Y43Y|CELF2_ENST00000609692.1_Silent_p.Y43Y|CELF2_ENST00000450189.1_Silent_p.Y74Y|CELF2_ENST00000416382.2_Silent_p.Y67Y|CELF2_ENST00000315874.4_Silent_p.Y43Y|CELF2_ENST00000427450.1_Silent_p.Y43Y|CELF2_ENST00000417956.2_Silent_p.Y43Y|CELF2_ENST00000608830.1_Silent_p.Y43Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	67	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GAGCCGTCTACCAGATCAACG	0.602																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(199-201)taC>taT		CUGBP, Elav-like family member 2							52.0	55.0	54.0					10																	11207596		1927	4143	6070	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11207596C>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.201C>T	10.37:g.11207596C>T						CELF2_ENST00000416382.2_Silent_p.Y67Y|CELF2_ENST00000354897.3_Silent_p.Y43Y|CELF2_ENST00000450189.1_Silent_p.Y74Y|CELF2_ENST00000315874.3_Silent_p.Y43Y|CELF2_ENST00000399850.3_Silent_p.Y43Y|CELF2_ENST00000542579.1_Silent_p.Y74Y|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000354440.2_Silent_p.Y43Y|CELF2_ENST00000427450.1_Silent_p.Y43Y|CELF2_ENST00000417956.2_Silent_p.Y43Y	p.Y67Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			2	293	+			67			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.201C>T	CCDS44354.1																																																																																				0.602	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	12	0	0	0	1	0	7	12				
HECTD4	283450	broad.mit.edu	37	12	112711577	112711577	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112711577G>A	ENST00000430131.2	-	10	1673	c.528C>T	c.(526-528)aaC>aaT	p.N176N	HECTD4_ENST00000550722.1_Silent_p.N464N|HECTD4_ENST00000377560.5_Silent_p.N426N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	176					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATAGCATGTTGTTCACTGTGT	0.443																																						ENST00000550722.1																			0											c.(1390-1392)aaC>aaT		HECT domain containing E3 ubiquitin protein ligase 4							115.0	109.0	111.0					12																	112711577		2067	4206	6273	SO:0001819	synonymous_variant	283450							g.chr12:112711577G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.528C>T	12.37:g.112711577G>A						HECTD4_ENST00000377560.5_Silent_p.N426N|HECTD4_ENST00000430131.2_Silent_p.N176N	p.N464N	NM_001109662.3	NP_001103132.3					11	1787	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1392C>T																																																																																					0.443	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		26	37	0	0	0	1	0	26	37				
RIMS2	9699	broad.mit.edu	37	8	105001555	105001555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105001555C>T	ENST00000436393.2	+	15	2525	c.2284C>T	c.(2284-2286)Cga>Tga	p.R762*	RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R776*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R823*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R984*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1046					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R762*(1)|p.R776*(1)|p.R1051*(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGGGGCTTCGAGGGACCCG	0.393										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Substitution - Nonsense(3)	p.R762*(1)|p.R776*(1)|p.R1051*(1)	skin(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		regulating synaptic membrane exocytosis 2							131.0	129.0	130.0					8																	105001555		1872	4101	5973	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001555C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2284C>T	8.37:g.105001555C>T	ENSP00000390665:p.Arg762*	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R823*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.R762*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R984*	p.R776*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2562	+			1046					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.359855	0.97502	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9784	0.64287	0.1517:0.8483:0.0:0.0	.	.	.	.	X	984;999;984;1046;823;776;776;762	.	ENSP00000262231:R823X	R	+	1	2	RIMS2	105070731	0.995000	0.38212	1.000000	0.80357	0.244000	0.25665	2.337000	0.43947	2.617000	0.88574	0.484000	0.47621	CGA		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		43	51	0	0	0	1	0	43	51				
DOCK6	57572	broad.mit.edu	37	19	11361693	11361693	+	Missense_Mutation	SNP	C	C	T	rs376784362		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11361693C>T	ENST00000294618.7	-	6	588	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	193					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCCTCAGGTCGAAGATGCTA	0.617																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(577-579)Gac>Aac		dedicator of cytokinesis 6		C	ASN/ASP	1,3951		0,1,1975	29.0	34.0	32.0		577	3.8	1.0	19		32	1,8305		0,1,4152	no	missense	DOCK6	NM_020812.2	23	0,2,6127	TT,TC,CC		0.012,0.0253,0.0163	benign	193/2048	11361693	2,12256	1976	4153	6129	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361693C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.577G>A	19.37:g.11361693C>T	ENSP00000294618:p.Asp193Asn						p.D193N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			6	588	-			193					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.577G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103069	0.56183	2.53E-4	1.2E-4	ENSG00000130158	ENST00000294618	T	0.18810	2.19	4.87	3.83	0.44106	.	0.106426	0.64402	D	0.000007	T	0.20941	0.0504	M	0.63169	1.94	0.80722	D	1	P	0.36249	0.545	B	0.32342	0.144	T	0.02975	-1.1087	10	0.49607	T	0.09	-24.366	11.2214	0.48857	0.0:0.9058:0.0:0.0942	.	193	Q96HP0	DOCK6_HUMAN	N	193	ENSP00000294618:D193N	ENSP00000294618:D193N	D	-	1	0	DOCK6	11222693	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.479000	0.66813	1.013000	0.39391	0.462000	0.41574	GAC		0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	25	0	0	0	1	0	6	25				
ANKHD1	54882	broad.mit.edu	37	5	139818200	139818200	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139818200C>T	ENST00000360839.2	+	3	769	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ANKHD1_ENST00000297183.6_Silent_p.D205D|ANKHD1_ENST00000394723.3_Silent_p.D205D|ANKHD1_ENST00000394722.3_Silent_p.D194D|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.D205D	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	205						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAGTGGACACGTATGTGT	0.408																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(613-615)gaC>gaT		ankyrin repeat and KH domain containing 1							146.0	133.0	137.0					5																	139818200		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139818200C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.615C>T	5.37:g.139818200C>T						ANKHD1_ENST00000394723.3_Silent_p.D205D|ANKHD1_ENST00000360839.2_Silent_p.D205D|ANKHD1_ENST00000394722.3_Silent_p.D194D|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.D205D	p.D205D	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	739	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.615C>T	CCDS4225.1																																																																																				0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		33	47	0	0	0	1	0	33	47				
KIAA1755	85449	broad.mit.edu	37	20	36846737	36846737	+	Missense_Mutation	SNP	C	C	T	rs139310550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36846737C>T	ENST00000279024.4	-	12	2859	c.2588G>A	c.(2587-2589)cGg>cAg	p.R863Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	863										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGCAGGCACCGCCTTCCTTC	0.582																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2587-2589)cGg>cAg		KIAA1755		C	GLN/ARG	0,4406		0,0,2203	73.0	64.0	67.0		2588	-2.5	0.8	20	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIAA1755	NM_001029864.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	863/1201	36846737	1,13005	2203	4300	6503	SO:0001583	missense	85449							g.chr20:36846737C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2588G>A	20.37:g.36846737C>T	ENSP00000279024:p.Arg863Gln						p.R863Q	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			12	2859	-		Myeloproliferative disorder(115;0.00874)	863					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2588G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	2.186	-0.386424	0.04966	0.0	1.16E-4	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.34072	3.52;1.38	4.91	-2.45	0.06481	.	1.215000	0.06258	N	0.693348	T	0.19327	0.0464	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.043	B;B	0.15484	0.013;0.008	T	0.19224	-1.0312	10	0.09843	T	0.71	.	6.3098	0.21159	0.0:0.337:0.1437:0.5193	.	863;371	Q5JYT7;E9PFS1	K1755_HUMAN;.	Q	863;371;162	ENSP00000279024:R863Q;ENSP00000393503:R162Q	ENSP00000279024:R863Q	R	-	2	0	KIAA1755	36280151	0.000000	0.05858	0.762000	0.31397	0.010000	0.07245	-1.283000	0.02796	-0.219000	0.10003	-0.258000	0.10820	CGG		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		4	24	0	0	0	1	0	4	24				
MYBBP1A	10514	broad.mit.edu	37	17	4451488	4451488	+	Silent	SNP	G	G	A	rs141617248		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4451488G>A	ENST00000254718.4	-	12	1980	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	MYBBP1A_ENST00000381556.2_Silent_p.N558N			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	558	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGTGGTCACGTTGTGGCTGT	0.652																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1672-1674)aaC>aaT		MYB binding protein (P160) 1a		G	,	1,4405	2.1+/-5.4	0,1,2202	68.0	62.0	64.0		1674,1674	-2.6	0.4	17	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	558/1333,558/1329	4451488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4451488G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1674C>T	17.37:g.4451488G>A						MYBBP1A_ENST00000381556.2_Silent_p.N558N	p.N558N			Q9BQG0	MBB1A_HUMAN			12	1980	-			558			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1674C>T	CCDS11046.1																																																																																				0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		20	24	0	0	0	1	0	20	24				
FEM1B	10116	broad.mit.edu	37	15	68583314	68583314	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68583314G>A	ENST00000306917.4	+	2	2233	c.1618G>A	c.(1618-1620)Gtt>Att	p.V540I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	540					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCATATTATCGTTCAGTACAA	0.473																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1618-1620)Gtt>Att		fem-1 homolog b (C. elegans)							236.0	210.0	219.0					15																	68583314		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583314G>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1618G>A	15.37:g.68583314G>A	ENSP00000307298:p.Val540Ile						p.V540I	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	2233	+			540					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1618G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031406	0.54790	.	.	ENSG00000169018	ENST00000306917	T	0.54866	0.55	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.54590	0.756	T	0.64368	-0.6424	10	0.52906	T	0.07	-16.0046	19.2149	0.93772	0.0:0.0:1.0:0.0	.	540	Q9UK73	FEM1B_HUMAN	I	540	ENSP00000307298:V540I	ENSP00000307298:V540I	V	+	1	0	FEM1B	66370368	1.000000	0.71417	0.345000	0.25642	0.976000	0.68499	9.793000	0.99091	2.791000	0.96007	0.491000	0.48974	GTT		0.473	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			44	53	0	0	0	1	0	44	53				
ERCC6	2074	broad.mit.edu	37	10	50740993	50740993	+	Silent	SNP	G	G	A	rs577145652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50740993G>A	ENST00000355832.5	-	2	96	c.18C>T	c.(16-18)atC>atT	p.I6I	ERCC6-PGBD3_ENST00000447839.2_Silent_p.I6I|PGBD3_ENST00000603152.1_Silent_p.I6I|ERCC6-PGBD3_ENST00000515869.1_Silent_p.I6I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	6					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGAGTGGGGGATTCCCTCAT	0.363								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(16-18)atC>atT	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							118.0	106.0	110.0					10																	50740993		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740993G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.18C>T	10.37:g.50740993G>A						ERCC6-PGBD3_ENST00000515869.1_Silent_p.I6I|PGBD3_ENST00000603152.1_Silent_p.I6I|ERCC6-PGBD3_ENST00000447839.2_Silent_p.I6I	p.I6I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			2	96	-			6					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.18C>T	CCDS7229.1																																																																																				0.363	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		20	36	0	0	0	1	0	20	36				
PCDH9	5101	broad.mit.edu	37	13	67802360	67802360	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67802360C>T	ENST00000377865.2	-	1	347	c.213G>A	c.(211-213)ggG>ggA	p.G71G	PCDH9_ENST00000456367.1_Silent_p.G71G|PCDH9_ENST00000377861.3_Silent_p.G71G|PCDH9_ENST00000544246.1_Silent_p.G71G|PCDH9_ENST00000328454.5_Silent_p.G71G			Q9HC56	PCDH9_HUMAN	protocadherin 9	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G71G(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGGGGCATCCCCAGCTTTAG	0.488																																						ENST00000544246.1																			1	Substitution - coding silent(1)	p.G71G(1)	lung(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(211-213)ggG>ggA		protocadherin 9							67.0	65.0	66.0					13																	67802360		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802360C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.213G>A	13.37:g.67802360C>T						PCDH9_ENST00000377861.3_Silent_p.G71G|PCDH9_ENST00000328454.5_Silent_p.G71G|PCDH9_ENST00000456367.1_Silent_p.G71G|PCDH9_ENST00000377865.2_Silent_p.G71G	p.G71G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	904	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	71			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.213G>A	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		17	7	0	0	0	1	0	17	7				
CAD	790	broad.mit.edu	37	2	27447233	27447233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447233C>T	ENST00000403525.1	+	9	1273	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CAD_ENST00000264705.4_Missense_Mutation_p.R377C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGACTGAGCGCCTCTGTCC	0.577																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1129-1131)Cgc>Tgc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						54.0	54.0	54.0					2																	27447233		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447233C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1129C>T	2.37:g.27447233C>T	ENSP00000384510:p.Arg377Cys					CAD_ENST00000403525.1_Missense_Mutation_p.R377C	p.R377C	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			9	1291	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		377			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1129C>T		.	.	.	.	.	.	.	.	.	.	C	15.03	2.713611	0.48517	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98362	-4.89;-4.83	5.2	2.42	0.29668	Pre-ATP-grasp fold (1);	0.236200	0.43747	N	0.000533	D	0.95085	0.8408	N	0.08118	0	0.40728	D	0.982722	D;D	0.67145	0.987;0.996	P;B	0.55667	0.781;0.332	D	0.92277	0.5830	10	0.52906	T	0.07	8.3832	5.5483	0.17076	0.141:0.6313:0.0:0.2277	.	377;377	F8VPD4;P27708	.;PYR1_HUMAN	C	377	ENSP00000264705:R377C;ENSP00000384510:R377C	ENSP00000264705:R377C	R	+	1	0	CAD	27300737	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	1.214000	0.32419	0.211000	0.20683	0.491000	0.48974	CGC		0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			8	33	0	0	0	1	0	8	33				
GAPVD1	26130	broad.mit.edu	37	9	128092363	128092363	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:128092363C>T	ENST00000495955.1	+	13	2329	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	GAPVD1_ENST00000394105.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A680V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A659V|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A680V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A659V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A680V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	680					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACAGGTGCTGCAGCAGAGAAC	0.473																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2038-2040)gCa>gTa		GTPase activating protein and VPS9 domains 1							190.0	179.0	182.0					9																	128092363		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128092363C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2039C>T	9.37:g.128092363C>T	ENSP00000419063:p.Ala680Val					GAPVD1_ENST00000312123.9_Missense_Mutation_p.A659V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A680V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000495955.1_Missense_Mutation_p.A680V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A680V|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A680V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A659V	p.A680V			Q14C86	GAPD1_HUMAN			11	2199	+			680					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2039C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088256|5.088256	0.94100|0.94100	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.15017|.	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.45736|.	0.1357|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.71674|.	0.996;0.993;0.996;0.996;0.996;0.998|.	D;D;D;D;D;D|.	0.76071|.	0.98;0.956;0.971;0.971;0.971;0.987|.	T|.	0.41645|.	-0.9497|.	10|.	0.31617|.	T|.	0.26|.	.|.	17.7858|17.7858	0.88538|0.88538	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	680;680;680;659;680;680|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	V|X	680;680;680;680;659;680;680;680;659|543	ENSP00000419767:A680V;ENSP00000377665:A680V;ENSP00000377664:A680V;ENSP00000265956:A680V;ENSP00000377645:A659V;ENSP00000419063:A680V;ENSP00000418747:A680V;ENSP00000297933:A680V;ENSP00000309582:A659V|.	ENSP00000265956:A680V|.	A|Q	+|+	2|1	0|0	GAPVD1|GAPVD1	127132184|127132184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.473	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			5	107	0	0	0	1	0	5	107				
GTDC1	79712	broad.mit.edu	37	2	144765062	144765062	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:144765062G>T	ENST00000392869.2	-	6	714	c.562C>A	c.(562-564)Ctc>Atc	p.L188I	GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.L188I|GTDC1_ENST00000463875.2_Missense_Mutation_p.L59I|GTDC1_ENST00000344850.4_Missense_Mutation_p.L188I|GTDC1_ENST00000241391.5_Missense_Mutation_p.L188I|GTDC1_ENST00000542155.1_Missense_Mutation_p.L188I|GTDC1_ENST00000392867.3_Missense_Mutation_p.L188I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	188					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAGGCCGAGCATCTTCTTT	0.373																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(562-564)Ctc>Atc		glycosyltransferase-like domain containing 1							63.0	64.0	64.0					2																	144765062		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144765062G>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.562C>A	2.37:g.144765062G>T	ENSP00000376608:p.Leu188Ile					GTDC1_ENST00000542155.1_Missense_Mutation_p.L188I|GTDC1_ENST00000392867.3_Missense_Mutation_p.L188I|GTDC1_ENST00000463875.2_Missense_Mutation_p.L59I|GTDC1_ENST00000241391.5_Missense_Mutation_p.L188I|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392869.1_Missense_Mutation_p.L188I|GTDC1_ENST00000344850.4_Missense_Mutation_p.L188I	p.L188I	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	840	-			188					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.562C>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236881	0.58886	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.46063	0.9;0.9;0.88;0.9;0.88;0.9;0.89	5.42	2.62	0.31277	.	0.734608	0.12895	N	0.430223	T	0.32346	0.0826	L	0.52364	1.645	0.09310	N	1	B;B;B;B	0.23806	0.041;0.019;0.001;0.091	B;B;B;B	0.19946	0.018;0.019;0.002;0.027	T	0.21280	-1.0250	10	0.21540	T	0.41	-11.5133	6.1654	0.20388	0.2302:0.0:0.628:0.1418	.	188;188;188;188	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	I	188;188;188;188;188;188;59	ENSP00000376608:L188I;ENSP00000386581:L188I;ENSP00000376606:L188I;ENSP00000438323:L188I;ENSP00000241391:L188I;ENSP00000339750:L188I;ENSP00000437964:L59I	ENSP00000241391:L188I	L	-	1	0	GTDC1	144481532	1.000000	0.71417	0.827000	0.32855	0.984000	0.73092	1.670000	0.37502	0.775000	0.33450	0.655000	0.94253	CTC		0.373	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		20	27	1	0	9.57634e-11	1	1.02616e-10	20	27				
C3	718	broad.mit.edu	37	19	6693082	6693082	+	Silent	SNP	G	G	A	rs562241373	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6693082G>A	ENST00000245907.6	-	26	3335	c.3243C>T	c.(3241-3243)taC>taT	p.Y1081Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1081					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCTTGACCACGTAGGCGGTCA	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.002					ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72	GRCh37	CM003919	C3	M		c.(3241-3243)taC>taT		complement component 3							85.0	82.0	83.0					19																	6693082		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6693082G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3243C>T	19.37:g.6693082G>A							p.Y1081Y	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3335	-			1081					A7E236	Silent	SNP	ENST00000245907.6	37	c.3243C>T	CCDS32883.1																																																																																				0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	79	0	0	0	1	0	4	79				
HELZ2	85441	broad.mit.edu	37	20	62195572	62195572	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62195572G>T	ENST00000467148.1	-	8	4672	c.4603C>A	c.(4603-4605)Ctc>Atc	p.L1535I	HELZ2_ENST00000427522.2_Missense_Mutation_p.L966I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1535					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCAGCCACGAGCCTATTAAAC	0.642																																						ENST00000467148.1																			0											c.(4603-4605)Ctc>Atc		helicase with zinc finger 2, transcriptional coactivator							36.0	24.0	28.0					20																	62195572		2192	4296	6488	SO:0001583	missense	85441							g.chr20:62195572G>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4603C>A	20.37:g.62195572G>T	ENSP00000417401:p.Leu1535Ile					HELZ2_ENST00000427522.2_Missense_Mutation_p.L966I	p.L1535I	NM_001037335.2	NP_001032412.2					8	4672	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4603C>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251042	0.05867	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.38722	1.12;1.12	4.63	2.04	0.26737	Ribonuclease II/R (2);	1.490130	0.03939	N	0.286614	T	0.37489	0.1005	L	0.60957	1.885	0.09310	N	1	B;B	0.27679	0.185;0.154	B;B	0.28465	0.09;0.04	T	0.15954	-1.0419	10	0.22706	T	0.39	-2.0057	2.235	0.04006	0.4703:0.0:0.238:0.2917	.	1535;966	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	I	966;1535	ENSP00000393257:L966I;ENSP00000417401:L1535I	ENSP00000393257:L966I	L	-	1	0	RP4-697K14.7	61666016	0.090000	0.21635	0.141000	0.22245	0.009000	0.06853	1.077000	0.30741	0.346000	0.23899	0.491000	0.48974	CTC		0.642	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	13	1	0	3.59834e-05	1	3.7043e-05	6	13				
FMNL2	114793	broad.mit.edu	37	2	153475606	153475606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:153475606G>A	ENST00000288670.9	+	14	1928	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	521					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AATGGGGGCCGCTTCCTCAGG	0.572																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1561-1563)Gct>Act		formin-like 2							52.0	54.0	54.0					2																	153475606		1957	4140	6097	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475606G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1561G>A	2.37:g.153475606G>A	ENSP00000288670:p.Ala521Thr						p.A521T	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1928	+			521					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1561G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088533	0.36855	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.22539	1.95	5.57	-5.22	0.02806	.	0.947535	0.08902	N	0.877035	T	0.08133	0.0203	N	0.14661	0.345	0.21740	N	0.99957	B	0.06786	0.001	B	0.04013	0.001	T	0.38802	-0.9644	10	0.14252	T	0.57	.	3.8533	0.08965	0.4235:0.1737:0.3218:0.081	.	521	Q96PY5-3	.	T	521;18	ENSP00000288670:A521T	ENSP00000288670:A521T	A	+	1	0	FMNL2	153183852	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.526000	0.00947	-0.865000	0.04073	-0.766000	0.03442	GCT		0.572	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		18	14	0	0	0	1	0	18	14				
SBNO1	55206	broad.mit.edu	37	12	123782717	123782717	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123782717G>A	ENST00000602398.1	-	31	3974	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C	SBNO1_ENST00000267176.4_Splice_Site_p.R1282C|SBNO1_ENST00000420886.2_Splice_Site_p.R1283C|SBNO1_ENST00000602750.1_Splice_Site_p.R1282C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1283					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTGCCGCGCCTAAGAAAA	0.378																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.e30-1		strawberry notch homolog 1 (Drosophila)							60.0	56.0	57.0					12																	123782717		2203	4300	6503	SO:0001630	splice_region_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782717G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3846-1C>T	12.37:g.123782717G>A						SBNO1_ENST00000267176.4_Splice_Site_p.R1282_splice|SBNO1_ENST00000602398.1_Splice_Site_p.R1283_splice|SBNO1_ENST00000602750.1_Splice_Site_p.R1282_splice	p.R1283_splice	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3846	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1283					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Splice_Site	SNP	ENST00000602398.1	37	c.3845_splice	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052736	0.55218	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83075	-1.68;-1.68	5.73	4.79	0.61399	.	0.223447	0.34725	N	0.003723	D	0.87849	0.6281	L	0.46157	1.445	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	D	0.87296	0.2302	10	0.51188	T	0.08	-4.7158	15.8552	0.78972	0.0:0.0:0.8141:0.1858	.	1283;1282	A3KN83;A3KN83-2	SBNO1_HUMAN;.	C	1283;1282	ENSP00000387361:R1283C;ENSP00000267176:R1282C	ENSP00000267176:R1282C	R	-	1	0	SBNO1	122348670	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.851000	0.55926	2.880000	0.98712	0.650000	0.86243	CGC		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	Missense_Mutation	11	40	0	0	0	1	0	11	40				
SLC28A3	64078	broad.mit.edu	37	9	86900404	86900404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86900404C>T	ENST00000376238.4	-	14	1552	c.1503G>A	c.(1501-1503)tgG>tgA	p.W501*	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.W432*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	501					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGCTGTCCTGCCATTCCACTC	0.408																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1501-1503)tgG>tgA		solute carrier family 28 (concentrative nucleoside transporter), member 3							96.0	95.0	95.0					9																	86900404		2203	4300	6503	SO:0001587	stop_gained	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900404C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1503G>A	9.37:g.86900404C>T	ENSP00000365413:p.Trp501*					SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.W432*|RP11-380F14.2_ENST00000419815.1_RNA	p.W501*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			14	1552	-			501					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	c.1503G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	37	6.527358	0.97637	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.74	5.74	0.90152	.	0.111758	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4931	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	501;432	.	ENSP00000365413:W501X	W	-	3	0	SLC28A3	86090224	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.259000	0.43259	2.873000	0.98535	0.561000	0.74099	TGG		0.408	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		39	51	0	0	0	1	0	39	51				
WT1	7490	broad.mit.edu	37	11	32410718	32410718	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32410718C>A	ENST00000379079.2	-	10	1068	c.795G>T	c.(793-795)aaG>aaT	p.K265N	WT1_ENST00000332351.3_Missense_Mutation_p.K480N|WT1_ENST00000448076.3_Missense_Mutation_p.K477N|WT1_ENST00000530998.1_Missense_Mutation_p.K251N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	412					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGCTGAAGGGCTTTTCACCTG	0.483			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	0				NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1438-1440)aaG>aaT		Wilms tumor 1							137.0	129.0	132.0					11																	32410718		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32410718C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.795G>T	11.37:g.32410718C>A	ENSP00000368370:p.Lys265Asn					WT1_ENST00000448076.3_Missense_Mutation_p.K477N|WT1_ENST00000379079.2_Missense_Mutation_p.K265N|WT1_ENST00000530998.1_Missense_Mutation_p.K251N	p.K480N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		10	1724	-	Breast(20;0.247)		412					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1440G>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.78|19.78	3.891176|3.891176	0.72524|0.72524	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|T;T;T;T;T	.|0.64618	.|1.76;-0.11;-0.11;1.76;1.76	5.58|5.58	3.7|3.7	0.42460|0.42460	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;0.999;0.999	T|T	0.78127|0.78127	-0.2325|-0.2325	5|10	.|0.87932	.|D	.|0	.|.	11.7948|11.7948	0.52093|0.52093	0.0:0.8576:0.0:0.1424|0.0:0.8576:0.0:0.1424	.|.	.|468;412;485;251;265	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	S|N	141|265;480;251;460;477	.|ENSP00000368370:K265N;ENSP00000331327:K480N;ENSP00000435307:K251N;ENSP00000415516:K460N;ENSP00000413452:K477N	.|ENSP00000331327:K480N	A|K	-|-	1|3	0|2	WT1|WT1	32367294|32367294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.414000|2.414000	0.44627|0.44627	0.699000|0.699000	0.31761|0.31761	0.561000|0.561000	0.74099|0.74099	GCC|AAG		0.483	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		22	40	1	0	2.79863e-10	1	2.98826e-10	22	40				
TMEM147	10430	broad.mit.edu	37	19	36038088	36038088	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36038088G>A	ENST00000222284.5	+	6	642	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.R117Q|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.R166Q|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	166						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACACCTTCCGGCCAGCTGTC	0.552																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(349-351)cGg>cAg		transmembrane protein 147							129.0	119.0	122.0					19																	36038088		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038088G>A	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.497G>A	19.37:g.36038088G>A	ENSP00000222284:p.Arg166Gln					TMEM147_ENST00000392205.1_Missense_Mutation_p.R166Q|TMEM147_ENST00000222284.5_Missense_Mutation_p.R166Q	p.R117Q	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	678	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		166					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.350G>A	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642610	0.47153	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.44083	0.97;0.96;0.93	5.63	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.47716	1.5	0.53688	D	0.999976	B;B	0.27498	0.18;0.18	B;B	0.10450	0.003;0.005	T	0.08086	-1.0739	10	0.10636	T	0.68	.	12.1235	0.53905	0.0831:0.0:0.9169:0.0	.	117;166	A8MWW0;Q9BVK8	.;TM147_HUMAN	Q	117;166;166	ENSP00000376040:R117Q;ENSP00000222284:R166Q;ENSP00000376041:R166Q	ENSP00000222284:R166Q	R	+	2	0	TMEM147	40729928	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.536000	0.67180	1.386000	0.46466	0.655000	0.94253	CGG		0.552	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		19	34	0	0	0	1	0	19	34				
RAD17	5884	broad.mit.edu	37	5	68692341	68692341	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68692341C>T	ENST00000509734.1	+	15	2251	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	RAD17_ENST00000380774.3_Missense_Mutation_p.H525Y|RAD17_ENST00000521422.1_Missense_Mutation_p.H349Y|RAD17_ENST00000282891.6_Missense_Mutation_p.H428Y|RAD17_ENST00000361732.2_Missense_Mutation_p.H514Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.H514Y|RAD17_ENST00000358030.2_Missense_Mutation_p.H349Y|RAD17_ENST00000354312.3_Missense_Mutation_p.H514Y|RAD17_ENST00000305138.4_Missense_Mutation_p.H514Y|RAD17_ENST00000354868.5_Missense_Mutation_p.H514Y			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	525	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TCGACCCTTGCACAAACCTCA	0.358								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1573-1575)Cac>Tac	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							56.0	48.0	50.0					5																	68692341		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692341C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1573C>T	5.37:g.68692341C>T	ENSP00000426191:p.His525Tyr					RAD17_ENST00000305138.4_Missense_Mutation_p.H514Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.H514Y|RAD17_ENST00000380774.3_Missense_Mutation_p.H525Y|RAD17_ENST00000521422.1_Missense_Mutation_p.H349Y|RAD17_ENST00000282891.6_Missense_Mutation_p.H428Y|RAD17_ENST00000354312.3_Missense_Mutation_p.H514Y|RAD17_ENST00000345306.6_Missense_Mutation_p.H514Y|RAD17_ENST00000358030.2_Missense_Mutation_p.H349Y|RAD17_ENST00000361732.2_Missense_Mutation_p.H514Y	p.H525Y			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2251	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	525			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1573C>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987131	0.74589	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.24	5.24	0.73138	.	0.046317	0.85682	D	0.000000	T	0.37705	0.1013	L	0.45581	1.43	0.50313	D	0.999863	D;P;D	0.57571	0.98;0.944;0.975	P;P;P	0.61940	0.896;0.69;0.833	T	0.01524	-1.1333	10	0.33141	T	0.24	-9.9735	17.9459	0.89038	0.0:1.0:0.0:0.0	.	525;428;514	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	Y	514;525;514;349;514;514;514;428;349;525;133	ENSP00000355226:H514Y;ENSP00000426191:H525Y;ENSP00000346938:H514Y;ENSP00000427743:H349Y;ENSP00000346271:H514Y;ENSP00000311227:H514Y;ENSP00000303134:H514Y;ENSP00000282891:H428Y;ENSP00000350725:H349Y;ENSP00000370151:H525Y;ENSP00000425005:H133Y	ENSP00000282891:H428Y	H	+	1	0	RAD17	68728097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.977000	0.63792	2.597000	0.87782	0.557000	0.71058	CAC		0.358	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	23	0	0	0	1	0	11	23				
TENM3	55714	broad.mit.edu	37	4	183676028	183676028	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:183676028C>A	ENST00000511685.1	+	22	4631	c.4508C>A	c.(4507-4509)cCt>cAt	p.P1503H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1503H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1503					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAGAATAAGCCTTTACTTAAC	0.423																																						ENST00000511685.1																			0											c.(4507-4509)cCt>cAt		teneurin transmembrane protein 3							87.0	86.0	86.0					4																	183676028		1908	4110	6018	SO:0001583	missense	55714							g.chr4:183676028C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4508C>A	4.37:g.183676028C>A	ENSP00000424226:p.Pro1503His					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P1503H	p.P1503H							22	4631	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4508C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223251	0.79464	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16324	2.35;2.35	5.25	5.25	0.73442	.	.	.	.	.	T	0.47266	0.1436	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.49322	-0.8952	9	0.87932	D	0	.	19.0324	0.92963	0.0:1.0:0.0:0.0	.	1503	Q9P273	TEN3_HUMAN	H	1503	ENSP00000424226:P1503H;ENSP00000385276:P1503H	ENSP00000385276:P1503H	P	+	2	0	ODZ3	183913022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.737000	0.93849	0.563000	0.77884	CCT		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			31	32	1	0	1.99505e-19	1	2.20731e-19	31	32				
PRDM9	56979	broad.mit.edu	37	5	23522811	23522811	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:23522811G>A	ENST00000296682.3	+	8	881	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	233					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGACAAGGGGCACCCCAACC	0.557										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(697-699)ggG>ggA		PR domain containing 9							54.0	52.0	53.0					5																	23522811		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522811G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.699G>A	5.37:g.23522811G>A		HNSCC(3;0.000094)					p.G233G	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	881	+			233					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.699G>A	CCDS43307.1																																																																																				0.557	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		11	19	0	0	0	1	0	11	19				
SLC6A11	6538	broad.mit.edu	37	3	10976794	10976794	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10976794G>A	ENST00000254488.2	+	13	1721	c.1655G>A	c.(1654-1656)gGc>gAc	p.G552D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	552					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGGGGCTATGGCATTGGCTGG	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1654-1656)gGc>gAc		solute carrier family 6 (neurotransmitter transporter), member 11							193.0	171.0	178.0					3																	10976794		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976794G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1655G>A	3.37:g.10976794G>A	ENSP00000254488:p.Gly552Asp						p.G552D	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1721	+			552					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1655G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579919	0.46006	.	.	ENSG00000132164	ENST00000254488	T	0.74737	-0.87	4.19	4.19	0.49359	.	0.130130	0.51477	D	0.000085	T	0.73473	0.3591	M	0.66506	2.035	0.80722	D	1	B	0.17465	0.022	B	0.28784	0.094	T	0.74278	-0.3717	10	0.62326	D	0.03	.	12.9287	0.58275	0.0:0.1629:0.8371:0.0	.	552	P48066	S6A11_HUMAN	D	552	ENSP00000254488:G552D	ENSP00000254488:G552D	G	+	2	0	SLC6A11	10951794	0.993000	0.37304	0.938000	0.37757	0.861000	0.49209	1.947000	0.40293	2.348000	0.79779	0.655000	0.94253	GGC		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		45	70	0	0	0	1	0	45	70				
ARHGEF11	9826	broad.mit.edu	37	1	156918209	156918209	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156918209G>A	ENST00000361409.2	-	22	2629	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	ARHGEF11_ENST00000368194.3_Silent_p.N669N|ARHGEF11_ENST00000315174.8_Silent_p.N45N|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	629					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCGGGGCACGTTCTCTGCCT	0.602																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2005-2007)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 11							101.0	85.0	91.0					1																	156918209		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918209G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1887C>T	1.37:g.156918209G>A						ARHGEF11_ENST00000361409.2_Silent_p.N629N|ARHGEF11_ENST00000315174.8_Silent_p.N45N	p.N669N	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			23	3046	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		629					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.2007C>T	CCDS1162.1																																																																																				0.602	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		24	24	0	0	0	1	0	24	24				
PGBD5	79605	broad.mit.edu	37	1	230461129	230461129	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230461129G>A	ENST00000525115.1	-	6	1122	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	PGBD5_ENST00000321327.2_Missense_Mutation_p.P466S|PGBD5_ENST00000391860.1_Missense_Mutation_p.P321S|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	367						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AAGGGGCATGGGATCTCCCCA	0.527																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1396-1398)Cca>Tca		piggyBac transposable element derived 5							234.0	214.0	221.0					1																	230461129		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230461129G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1099C>T	1.37:g.230461129G>A	ENSP00000431404:p.Pro367Ser					PGBD5_ENST00000525115.1_Missense_Mutation_p.P367S|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.P321S	p.P466S			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	8	1395	-	Breast(184;0.0397)	Prostate(94;0.167)	367					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1396C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.046201	0.75846	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16073	2.37;2.37;2.37	5.17	5.17	0.71159	.	0.105419	0.64402	D	0.000003	T	0.28267	0.0698	L	0.27053	0.805	0.58432	D	0.999996	P;D	0.76494	0.956;0.999	P;D	0.63283	0.715;0.913	T	0.01574	-1.1321	10	0.33940	T	0.23	-37.3723	19.0983	0.93263	0.0:0.0:1.0:0.0	.	367;57	Q8N414;B4DM72	PGBD5_HUMAN;.	S	321;466;367	ENSP00000375733:P321S;ENSP00000322530:P466S;ENSP00000431404:P367S	ENSP00000322530:P466S	P	-	1	0	PGBD5	228527752	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.551000	0.73909	2.598000	0.87819	0.555000	0.69702	CCA		0.527	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		35	55	0	0	0	1	0	35	55				
EIF2A	83939	broad.mit.edu	37	3	150289880	150289880	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:150289880C>T	ENST00000460851.1	+	10	1056	c.947C>T	c.(946-948)cCt>cTt	p.P316L	EIF2A_ENST00000273435.5_Missense_Mutation_p.P311L|EIF2A_ENST00000406576.3_Missense_Mutation_p.P255L|EIF2A_ENST00000383043.3_Missense_Mutation_p.P102L|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P291L			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	316					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAACTGGTCCTCGTAATGCA	0.398																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(946-948)cCt>cTt		eukaryotic translation initiation factor 2A, 65kDa							106.0	99.0	101.0					3																	150289880		1843	4108	5951	SO:0001583	missense	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150289880C>T	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.947C>T	3.37:g.150289880C>T	ENSP00000417229:p.Pro316Leu					SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.P255L|EIF2A_ENST00000273435.5_Missense_Mutation_p.P311L|EIF2A_ENST00000383043.3_Missense_Mutation_p.P102L|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P291L	p.P316L			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1056	+		Melanoma(1037;0.0575)	316					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	c.947C>T	CCDS46935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.056094|5.056094	0.93793|0.93793	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000465535|ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	.|T;T;T;T;T	.|0.57107	.|1.3;1.48;0.42;3.39;0.72	6.03|6.03	6.03|6.03	0.97812|0.97812	.|WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79690|0.79690	0.4489|0.4489	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.996;0.993	.|D;D;D	.|0.79784	.|0.993;0.969;0.969	T|T	0.82240|0.82240	-0.0555|-0.0555	5|10	.|0.87932	.|D	.|0	-19.143|-19.143	20.6398|20.6398	0.99548|0.99548	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|255;291;316	.|B4DF96;B4DQ14;Q9BY44	.|.;.;EIF2A_HUMAN	F|L	90|291;316;255;311;102	.|ENSP00000420537:P291L;ENSP00000417229:P316L;ENSP00000385292:P255L;ENSP00000273435:P311L;ENSP00000372513:P102L	.|ENSP00000273435:P311L	L|P	+|+	1|2	0|0	EIF2A|EIF2A	151772570|151772570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.438000|7.438000	0.80431|0.80431	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.398	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		14	18	0	0	0	1	0	14	18				
ESCO2	157570	broad.mit.edu	37	8	27633930	27633930	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27633930T>C	ENST00000305188.8	+	3	343	c.105T>C	c.(103-105)tgT>tgC	p.C35C	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	35					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAGCACTGTTTTTATCAAA	0.308									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(103-105)tgT>tgC		establishment of sister chromatid cohesion N-acetyltransferase 2							30.0	33.0	32.0					8																	27633930		2201	4297	6498	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27633930T>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.105T>C	8.37:g.27633930T>C						ESCO2_ENST00000397418.2_5'UTR	p.C35C	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	343	+		Ovarian(32;0.000953)	35					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.105T>C	CCDS34872.1																																																																																				0.308	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		18	26	0	0	0	1	0	18	26				
ARHGAP12	94134	broad.mit.edu	37	10	32096640	32096640	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32096640C>A	ENST00000344936.2	-	20	2721	c.2487G>T	c.(2485-2487)caG>caT	p.Q829H	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q777H|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Q799H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q824H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q777H	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	829	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CAATCTGATTCTGGTACACAG	0.373																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(2395-2397)caG>caT		Rho GTPase activating protein 12							83.0	83.0	83.0					10																	32096640		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32096640C>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2487G>T	10.37:g.32096640C>A	ENSP00000345808:p.Gln829His					ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q824H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q777H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q829H|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q777H	p.Q799H	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			18	2638	-		Prostate(175;0.0199)	829			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.2397G>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746146	0.49151	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.25	-3.28	0.05033	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.054030	0.85682	D	0.000000	T	0.64800	0.2631	M	0.86343	2.81	0.51482	D	0.999922	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.78314	0.991;0.991;0.98;0.98;0.991;0.967	T	0.71241	-0.4651	10	0.87932	D	0	.	16.0845	0.81031	0.0:0.7052:0.0:0.2948	.	782;799;824;829;777;128	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	H	777;799;829;824;777	ENSP00000310984:Q777H;ENSP00000364399:Q799H;ENSP00000345808:Q829H;ENSP00000379448:Q824H;ENSP00000364394:Q777H	ENSP00000310984:Q777H	Q	-	3	2	ARHGAP12	32136646	1.000000	0.71417	0.864000	0.33941	0.992000	0.81027	1.200000	0.32247	-0.788000	0.04504	-0.247000	0.11927	CAG		0.373	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			18	17	1	0	1.99824e-07	1	2.09433e-07	18	17				
RPUSD1	113000	broad.mit.edu	37	16	836249	836249	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:836249G>A	ENST00000561734.1	-	5	883	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RPUSD1_ENST00000567114.1_Missense_Mutation_p.R85C|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R214C			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	214					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GTGGGGATGCGCAGGTAGAAA	0.667																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(640-642)Cgc>Tgc		RNA pseudouridylate synthase domain containing 1							80.0	89.0	86.0					16																	836249		2200	4300	6500	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836249G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.640C>T	16.37:g.836249G>A	ENSP00000455026:p.Arg214Cys					RPUSD1_ENST00000567114.1_Missense_Mutation_p.R85C|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R214C	p.R214C			Q9UJJ7	RUSD1_HUMAN			5	883	-		Hepatocellular(780;0.00335)	214					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.640C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849223	0.51270	.	.	ENSG00000007376	ENST00000007264	T	0.23147	1.92	4.17	3.22	0.36961	Pseudouridine synthase, catalytic domain (1);	0.106751	0.64402	N	0.000004	T	0.33673	0.0871	L	0.52206	1.635	0.48901	D	0.999729	D	0.67145	0.996	P	0.53809	0.735	T	0.11036	-1.0604	10	0.87932	D	0	-38.7899	10.6671	0.45736	0.0957:0.0:0.9043:0.0	.	214	Q9UJJ7	RUSD1_HUMAN	C	214	ENSP00000007264:R214C	ENSP00000007264:R214C	R	-	1	0	RPUSD1	776250	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	5.551000	0.67274	0.992000	0.38840	0.456000	0.33151	CGC		0.667	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		5	76	0	0	0	1	0	5	76				
BBS2	583	broad.mit.edu	37	16	56536302	56536302	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56536302T>A	ENST00000245157.5	-	9	1427	c.1007A>T	c.(1006-1008)gAc>gTc	p.D336V	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.D336V	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	336					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TCGGATCAGGTCCTGCTCTGC	0.527									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1006-1008)gAc>gTc		Bardet-Biedl syndrome 2							155.0	140.0	145.0					16																	56536302		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536302T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1007A>T	16.37:g.56536302T>A	ENSP00000245157:p.Asp336Val					BBS2_ENST00000568104.1_Missense_Mutation_p.D336V|BBS2_ENST00000561951.1_5'UTR	p.D336V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			9	1427	-			336					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1007A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522396	0.85600	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.92	4.81	0.61882	.	0.266798	0.47455	D	0.000230	D	0.93812	0.8021	M	0.76574	2.34	0.80722	D	1	D	0.56287	0.975	P	0.61397	0.888	D	0.93312	0.6685	10	0.54805	T	0.06	-11.0785	12.2324	0.54495	0.0:0.067:0.0:0.933	.	336	Q9BXC9	BBS2_HUMAN	V	336	ENSP00000245157:D336V	ENSP00000245157:D336V	D	-	2	0	BBS2	55093803	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.155000	0.71833	1.027000	0.39758	0.459000	0.35465	GAC		0.527	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		38	46	0	0	0	1	0	38	46				
HSD3B2	3284	broad.mit.edu	37	1	119962120	119962120	+	Silent	SNP	C	C	T	rs150892928	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119962120C>T	ENST00000543831.1	+	3	471	c.222C>T	c.(220-222)gaC>gaT	p.D74D	HSD3B2_ENST00000369416.3_Silent_p.D74D|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	74			D -> N (in dbSNP:rs4986954).		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCTGCCAGGACGTCTCGGTCG	0.502																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(220-222)gaC>gaT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)	C	,	1,4405		0,1,2202	112.0	89.0	97.0		222,222	-2.6	0.0	1	dbSNP_134	97	5,8595		0,5,4295	no	coding-synonymous,coding-synonymous	HSD3B2	NM_000198.3,NM_001166120.1	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	74/373,74/373	119962120	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962120C>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.222C>T	1.37:g.119962120C>T						HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Silent_p.D74D	p.D74D	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	471	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	74		D -> N (in dbSNP:rs4986954).			A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.222C>T	CCDS902.1																																																																																				0.502	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		15	20	0	0	0	1	0	15	20				
MAP3K1	4214	broad.mit.edu	37	5	56183331	56183331	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56183331C>T	ENST00000399503.3	+	18	4241	c.4241C>T	c.(4240-4242)gCa>gTa	p.A1414V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGGACAATTGCATTTATGGCA	0.418																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4240-4242)gCa>gTa		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							223.0	199.0	207.0					5																	56183331		1893	4120	6013	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56183331C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4241C>T	5.37:g.56183331C>T	ENSP00000382423:p.Ala1414Val						p.A1414V	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	18	4241	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1414			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4241C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956911	0.92726	.	.	ENSG00000095015	ENST00000399503	T	0.65916	-0.18	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	N	0.20574	0.59	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.65631	-0.6121	10	0.30078	T	0.28	.	19.786	0.96437	0.0:1.0:0.0:0.0	.	1414	Q13233	M3K1_HUMAN	V	1414	ENSP00000382423:A1414V	ENSP00000382423:A1414V	A	+	2	0	MAP3K1	56219088	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.597000	0.74118	2.676000	0.91093	0.563000	0.77884	GCA		0.418	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		17	128	0	0	0	1	0	17	128				
PAMR1	25891	broad.mit.edu	37	11	35463154	35463154	+	Missense_Mutation	SNP	C	C	T	rs371928843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:35463154C>T	ENST00000378880.2	-	7	1353	c.908G>A	c.(907-909)cGc>cAc	p.R303H	PAMR1_ENST00000278360.3_Missense_Mutation_p.R320H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R192H|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	303	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTAGCATGGCGTCCGTTGAT	0.468																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(907-909)cGc>cAc		peptidase domain containing associated with muscle regeneration 1		C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	112.0	112.0	112.0		908,959	-0.6	0.0	11		112	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	PAMR1	NM_001001991.1,NM_015430.2	29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	303/721,320/738	35463154	1,12999	2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463154C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.908G>A	11.37:g.35463154C>T	ENSP00000368158:p.Arg303His					PAMR1_ENST00000378878.3_Missense_Mutation_p.R192H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R320H|PAMR1_ENST00000532848.1_Missense_Mutation_p.R263H	p.R303H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			7	1353	-			303			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.908G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	0.158	-1.084104	0.01888	0.0	1.16E-4	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.74	-0.611	0.11601	Complement control module (2);Sushi/SCR/CCP (3);	0.485871	0.25935	N	0.027357	T	0.51261	0.1664	L	0.48877	1.53	0.09310	N	1	B;B;B	0.18610	0.029;0.001;0.001	B;B;B	0.14578	0.011;0.003;0.002	T	0.48714	-0.9011	10	0.87932	D	0	.	11.2278	0.48895	0.0:0.4659:0.0:0.5341	.	192;303;320	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	H	320;303;192;263;280	ENSP00000278360:R320H;ENSP00000368158:R303H;ENSP00000368156:R192H;ENSP00000433868:R263H;ENSP00000432591:R280H	ENSP00000278360:R320H	R	-	2	0	PAMR1	35419730	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.637000	0.02015	-0.385000	0.07833	-1.933000	0.00509	CGC		0.468	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		44	88	0	0	0	1	0	44	88				
SOS2	6655	broad.mit.edu	37	14	50585340	50585340	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50585340G>A	ENST00000216373.5	-	23	3995	c.3721C>T	c.(3721-3723)Cat>Tat	p.H1241Y	SOS2_ENST00000543680.1_Missense_Mutation_p.H1208Y|VCPKMT_ENST00000395860.2_5'Flank|VCPKMT_ENST00000395859.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1241					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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGTGAAGATGCCCCAGTGGA	0.517																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(3721-3723)Cat>Tat		son of sevenless homolog 2 (Drosophila)							134.0	125.0	128.0					14																	50585340		2203	4300	6503	SO:0001583	missense	6655				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585340G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3721C>T	14.37:g.50585340G>A	ENSP00000216373:p.His1241Tyr					SOS2_ENST00000543680.1_Missense_Mutation_p.H1208Y	p.H1241Y	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			23	3995	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1241					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3721C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199438	0.38806	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79141	-1.24;-1.1	5.33	5.33	0.75918	.	0.053328	0.64402	D	0.000001	T	0.67002	0.2847	L	0.36672	1.1	0.40756	D	0.982965	B;B	0.32573	0.376;0.376	B;B	0.29176	0.099;0.099	T	0.66056	-0.6018	10	0.06099	T	0.92	.	19.0237	0.92925	0.0:0.0:1.0:0.0	.	1208;1241	B7ZKT6;Q07890	.;SOS2_HUMAN	Y	1241;1208	ENSP00000216373:H1241Y;ENSP00000445328:H1208Y	ENSP00000216373:H1241Y	H	-	1	0	SOS2	49655090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.527000	0.90594	2.470000	0.83445	0.563000	0.77884	CAT		0.517	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			29	35	0	0	0	1	0	29	35				
OSBPL1A	114876	broad.mit.edu	37	18	21946890	21946890	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21946890G>A	ENST00000319481.3	-	4	454	c.248C>T	c.(247-249)aCg>aTg	p.T83M	OSBPL1A_ENST00000582618.1_5'UTR|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.T83M|RP11-621L6.2_ENST00000579347.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	83	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGAAGCGGCGTGTCTCCCAT	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(247-249)aCg>aTg		oxysterol binding protein-like 1A							155.0	130.0	139.0					18																	21946890		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21946890G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.248C>T	18.37:g.21946890G>A	ENSP00000320291:p.Thr83Met					OSBPL1A_ENST00000399441.4_Missense_Mutation_p.T83M|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR	p.T83M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			4	454	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		83					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.248C>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974777	0.74360	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.75154	-0.91;-0.91	4.72	4.72	0.59763	Ankyrin repeat-containing domain (4);	0.264606	0.28538	U	0.014990	D	0.90154	0.6923	H	0.95365	3.66	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.92913	0.6349	10	0.59425	D	0.04	-16.481	16.4272	0.83818	0.0:0.0:1.0:0.0	.	83	Q9BXW6	OSBL1_HUMAN	M	83	ENSP00000320291:T83M;ENSP00000382370:T83M	ENSP00000320291:T83M	T	-	2	0	OSBPL1A	20200888	1.000000	0.71417	0.947000	0.38551	0.802000	0.45316	4.938000	0.63519	2.164000	0.68074	0.563000	0.77884	ACG		0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		32	43	0	0	0	1	0	32	43				
C19orf35	374872	broad.mit.edu	37	19	2278607	2278607	+	Silent	SNP	G	G	A	rs201179719		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2278607G>A	ENST00000342063.3	-	3	681	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	196										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TGTGCCAGGCGTCCTCGTGCG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14310	0.001		0.0	False		,,,				2504	0.0					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(586-588)gaC>gaT		chromosome 19 open reading frame 35							29.0	30.0	30.0					19																	2278607		2196	4292	6488	SO:0001819	synonymous_variant	374872							g.chr19:2278607G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.588C>T	19.37:g.2278607G>A							p.D196D	NM_198532.2	NP_940934.1	Q6ZS72	CS035_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)	3	681	-			196						Silent	SNP	ENST00000342063.3	37	c.588C>T	CCDS12087.1																																																																																				0.657	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		9	8	0	0	0	1	0	9	8				
C1QTNF9B	387911	broad.mit.edu	37	13	24465850	24465850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24465850C>T	ENST00000382140.2	-	5	640	c.580G>A	c.(580-582)Ggt>Agt	p.G194S	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G194S|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	194						collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGAGTCTCACCGATTTTCCCT	0.527																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(580-582)Ggt>Agt		C1q and tumor necrosis factor related protein 9B							56.0	60.0	59.0					13																	24465850		2203	4295	6498	SO:0001583	missense	387911					collagen		g.chr13:24465850C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.580G>A	13.37:g.24465850C>T	ENSP00000371575:p.Gly194Ser					C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G194S|C1QTNF9B-AS1_ENST00000417034.1_RNA	p.G194S	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	648	-			194					A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.580G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.493173	0.44352	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.99418	-5.87;-5.87	4.26	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	L	0.46157	1.445	0.80722	D	1	D	0.56287	0.975	B	0.36845	0.234	D	0.95886	0.8903	10	0.66056	D	0.02	.	12.8389	0.57790	0.0:0.9185:0.0:0.0815	.	194	B2RNN3	C1T9B_HUMAN	S	194	ENSP00000371572:G194S;ENSP00000371575:G194S	ENSP00000371572:G194S	G	-	1	0	C1QTNF9B	23363850	1.000000	0.71417	0.938000	0.37757	0.481000	0.33189	5.511000	0.67024	0.778000	0.33520	-0.680000	0.03767	GGT		0.527	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		4	44	0	0	0	1	0	4	44				
PARP6	56965	broad.mit.edu	37	15	72533877	72533877	+	Silent	SNP	G	G	A	rs546050509		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72533877G>A	ENST00000569795.1	-	24	2499	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000287196.9_Silent_p.G604G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	604	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGTTGGCATCGCCCACCTGAC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		22459	0.0		0.0	False		,,,				2504	0.001					ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1810-1812)ggC>ggT		poly (ADP-ribose) polymerase family, member 6							92.0	89.0	90.0					15																	72533877		1993	4173	6166	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72533877G>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1812C>T	15.37:g.72533877G>A						PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.G604G|PARP6_ENST00000260376.7_3'UTR	p.G604G			Q2NL67	PARP6_HUMAN			24	2499	-			604			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.1812C>T	CCDS10241.2																																																																																				0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		18	31	0	0	0	1	0	18	31				
JOSD1	9929	broad.mit.edu	37	22	39085305	39085305	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39085305G>A	ENST00000216039.5	-	2	989	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	104	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					GATTACCTGCGCTTGTCCCAC	0.483																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(310-312)Cgc>Tgc		Josephin domain containing 1							166.0	133.0	144.0					22																	39085305		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39085305G>A		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.310C>T	22.37:g.39085305G>A	ENSP00000216039:p.Arg104Cys						p.R104C	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			2	989	-	Melanoma(58;0.04)		104			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.310C>T	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322406	0.60634	.	.	ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832	T;T;T	0.69435	0.8;0.8;-0.4	5.76	5.76	0.90799	.	0.093155	0.64402	D	0.000001	T	0.72630	0.3484	M	0.90705	3.14	0.80722	D	1	B	0.33379	0.41	B	0.30646	0.118	T	0.77067	-0.2725	10	0.87932	D	0	.	14.7746	0.69713	0.0:0.0:0.8557:0.1443	.	104	Q15040	JOS1_HUMAN	C	104	ENSP00000216039:R104C;ENSP00000410010:R104C;ENSP00000415189:R104C	ENSP00000216039:R104C	R	-	1	0	JOSD1	37415251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.888000	0.69758	2.713000	0.92767	0.655000	0.94253	CGC		0.483	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		8	49	0	0	0	1	0	8	49				
OTOP3	347741	broad.mit.edu	37	17	72943091	72943091	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72943091G>A	ENST00000328801.4	+	6	1141	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	381						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTTCTATGTGGCTGTGCTGCC	0.602																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1141-1143)Gct>Act		otopetrin 3							73.0	58.0	63.0					17																	72943091		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943091G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1141G>A	17.37:g.72943091G>A	ENSP00000328090:p.Ala381Thr						p.A381T	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			6	1141	+	all_lung(278;0.151)|Lung NSC(278;0.185)		381						Missense_Mutation	SNP	ENST00000328801.4	37	c.1141G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	2.800	-0.249453	0.05867	.	.	ENSG00000182938	ENST00000328801	T	0.22336	1.96	4.4	2.1	0.27182	.	0.474498	0.20869	N	0.084217	T	0.10981	0.0268	N	0.20766	0.605	0.09310	N	1	B	0.15473	0.013	B	0.19946	0.027	T	0.19192	-1.0313	10	0.33141	T	0.24	-19.338	3.9071	0.09186	0.323:0.0:0.5021:0.1749	.	381	Q7RTS5	OTOP3_HUMAN	T	381	ENSP00000328090:A381T	ENSP00000328090:A381T	A	+	1	0	OTOP3	70454686	0.539000	0.26402	0.267000	0.24556	0.177000	0.22998	3.751000	0.55165	0.821000	0.34540	0.462000	0.41574	GCT		0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		24	30	0	0	0	1	0	24	30				
OPN3	23596	broad.mit.edu	37	1	241767567	241767567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767567G>A	ENST00000366554.2	-	2	794	c.688C>T	c.(688-690)Cga>Tga	p.R230*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	230					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTCACCATTCGAATGGAATAT	0.448																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(688-690)Cga>Tga		opsin 3							60.0	62.0	61.0					1																	241767567		2203	4300	6503	SO:0001587	stop_gained	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767567G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.688C>T	1.37:g.241767567G>A	ENSP00000355512:p.Arg230*					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	p.R230*	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	794	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	230					Q8IX08|Q9Y344	Nonsense_Mutation	SNP	ENST00000366554.2	37	c.688C>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685933	0.96784	.	.	ENSG00000054277	ENST00000366554	.	.	.	5.05	3.07	0.35406	.	0.340679	0.28042	N	0.016822	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.4224	0.32710	0.0783:0.0:0.6848:0.237	.	.	.	.	X	230	.	ENSP00000355512:R230X	R	-	1	2	OPN3	239834190	0.996000	0.38824	0.994000	0.49952	0.854000	0.48673	0.797000	0.26999	1.130000	0.42092	0.650000	0.86243	CGA		0.448	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		13	21	0	0	0	1	0	13	21				
ZNF518B	85460	broad.mit.edu	37	4	10445344	10445344	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:10445344C>T	ENST00000326756.3	-	3	3047	c.2609G>A	c.(2608-2610)aGc>aAc	p.S870N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	870					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAATTCACTGCTTCCTTGCTG	0.398																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2608-2610)aGc>aAc		zinc finger protein 518B							73.0	73.0	73.0					4																	10445344		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445344C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2609G>A	4.37:g.10445344C>T	ENSP00000317614:p.Ser870Asn						p.S870N	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3047	-			870					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2609G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307975	0.23821	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	5.8	3.14	0.36123	.	0.209859	0.33364	N	0.004990	T	0.01730	0.0055	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47249	-0.9132	10	0.18710	T	0.47	-15.5173	9.1958	0.37226	0.0:0.6473:0.0:0.3527	.	870	Q9C0D4	Z518B_HUMAN	N	870	ENSP00000317614:S870N	ENSP00000317614:S870N	S	-	2	0	ZNF518B	10054442	0.000000	0.05858	0.018000	0.16275	0.004000	0.04260	-0.128000	0.10531	0.812000	0.34326	-0.136000	0.14681	AGC		0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		21	26	0	0	0	1	0	21	26				
CFAP54	144535	broad.mit.edu	37	12	97158977	97158977	+	Silent	SNP	G	G	A	rs368289532		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:97158977G>A	ENST00000524981.4	+	60	8285	c.8262G>A	c.(8260-8262)tcG>tcA	p.S2754S				Q96N23	CL055_HUMAN		0																	TTTTGTCTTCGTATACAGATT	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.0		0.001	False		,,,				2504	0.0					ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3613-3615)tcG>tcA				G		0,4404		0,0,2202	75.0	69.0	71.0		1455	-6.1	0.9	12		71	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	C12orf63	XM_003118942.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		485/796	97158977	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr12:97158977G>A																												ENST00000524981.4:c.8262G>A	12.37:g.97158977G>A							p.S1205S			Q6ZTY8	CL063_HUMAN			27	3615	+			1179						Silent	SNP	ENST00000524981.4	37	c.3615G>A																																																																																					0.289	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			30	51	0	0	0	1	0	30	51				
COL12A1	1303	broad.mit.edu	37	6	75822986	75822986	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75822986G>A	ENST00000322507.8	-	51	8193	c.7884C>T	c.(7882-7884)ggC>ggT	p.G2628G	COL12A1_ENST00000483888.2_Silent_p.G2628G|COL12A1_ENST00000416123.2_Silent_p.G2628G|COL12A1_ENST00000345356.6_Silent_p.G1464G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2628	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTGCACCTCGCCTCTTGTAT	0.279																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7882-7884)ggC>ggT		collagen, type XII, alpha 1							85.0	78.0	80.0					6																	75822986		1821	4061	5882	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75822986G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7884C>T	6.37:g.75822986G>A						COL12A1_ENST00000483888.2_Silent_p.G2628G|COL12A1_ENST00000416123.2_Silent_p.G2628G|COL12A1_ENST00000345356.6_Silent_p.G1464G	p.G2628G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			51	8193	-			2628			Nonhelical region (NC3).|TSP N-terminal.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.7884C>T	CCDS43482.1																																																																																				0.279	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	19	0	0	0	1	0	4	19				
TMED6	146456	broad.mit.edu	37	16	69377529	69377529	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69377529C>A	ENST00000288025.3	-	4	559	c.504G>T	c.(502-504)aaG>aaT	p.K168N	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	168					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGTTCTGCACCTTTTGTGTGC	0.443																																						ENST00000288025.3																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						c.(502-504)aaG>aaT		transmembrane emp24 protein transport domain containing 6							118.0	114.0	116.0					16																	69377529		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377529C>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.504G>T	16.37:g.69377529C>A	ENSP00000288025:p.Lys168Asn					RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	p.K168N	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN			4	559	-			168					Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.504G>T	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715717	0.30413	.	.	ENSG00000157315	ENST00000288025	T	0.19532	2.14	5.71	4.76	0.60689	GOLD (1);	0.335977	0.35179	N	0.003381	T	0.28566	0.0707	M	0.62723	1.935	0.31806	N	0.627802	P	0.51147	0.942	P	0.52386	0.697	T	0.24870	-1.0148	10	0.18276	T	0.48	-10.0791	7.8279	0.29326	0.1305:0.7314:0.0:0.1381	.	168	Q8WW62	TMED6_HUMAN	N	168	ENSP00000288025:K168N	ENSP00000288025:K168N	K	-	3	2	TMED6	67935030	0.959000	0.32827	0.134000	0.22075	0.304000	0.27724	0.612000	0.24283	1.407000	0.46875	0.561000	0.74099	AAG		0.443	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		49	80	1	0	6.27289e-28	1	7.01837e-28	49	80				
MED13L	23389	broad.mit.edu	37	12	116446684	116446684	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116446684C>A	ENST00000281928.3	-	10	1740	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	512						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTCTATCCCTGCCAACCCT	0.453																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1534-1536)Ggg>Tgg		mediator complex subunit 13-like							169.0	156.0	160.0					12																	116446684		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446684C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1534G>T	12.37:g.116446684C>A	ENSP00000281928:p.Gly512Trp						p.G512W	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1740	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		512					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1534G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.806005	0.50421	.	.	ENSG00000123066	ENST00000281928	T	0.75154	-0.91	5.76	5.76	0.90799	.	0.226724	0.46145	D	0.000317	T	0.79034	0.4378	L	0.46157	1.445	0.50313	D	0.999863	D	0.69078	0.997	P	0.58577	0.841	T	0.80271	-0.1452	10	0.72032	D	0.01	.	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	512	Q71F56	MD13L_HUMAN	W	512	ENSP00000281928:G512W	ENSP00000281928:G512W	G	-	1	0	MED13L	114931067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.613000	0.61176	2.732000	0.93576	0.655000	0.94253	GGG		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			17	16	1	0	1.15088e-07	1	1.20771e-07	17	16				
ARMC9	80210	broad.mit.edu	37	2	232123790	232123790	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232123790C>T	ENST00000349938.4	+	11	1195	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	334						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CGCTTGAAAGCCTTCTTGTTG	0.448																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1000-1002)gCc>gTc		armadillo repeat containing 9							127.0	119.0	121.0					2																	232123790		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232123790C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1001C>T	2.37:g.232123790C>T	ENSP00000258417:p.Ala334Val					ARMC9_ENST00000483477.1_3'UTR	p.A334V	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	11	1195	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	334					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1001C>T	CCDS2484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.287247|4.287247	0.80803|0.80803	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339|ENST00000424740	T|.	0.19394|.	2.15|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.221569|.	0.45867|.	D|.	0.000339|.	T|T	0.69744|0.69744	0.3145|0.3145	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.54601|.	0.967|.	P|.	0.57101|.	0.813|.	T|T	0.68224|0.68224	-0.5465|-0.5465	10|5	0.59425|.	D|.	0.04|.	-19.266|-19.266	16.7969|16.7969	0.85604|0.85604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	334|.	Q7Z3E5|.	ARMC9_HUMAN|.	V|S	334;334;51|37	ENSP00000258417:A334V|.	ENSP00000258417:A334V|.	A|P	+|+	2|1	0|0	ARMC9|ARMC9	231832034|231832034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.951000|2.951000	0.49089|0.49089	2.344000|2.344000	0.79699|0.79699	0.561000|0.561000	0.74099|0.74099	GCC|CCT		0.448	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	47	0	0	0	1	0	4	47				
ASXL3	80816	broad.mit.edu	37	18	31324984	31324984	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:31324984C>T	ENST00000269197.5	+	12	5172	c.5172C>T	c.(5170-5172)acC>acT	p.T1724T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1724					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTTGGCTACCGATGCCCTGA	0.557																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5170-5172)acC>acT		additional sex combs like 3 (Drosophila)							73.0	75.0	74.0					18																	31324984		2023	4197	6220	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324984C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5172C>T	18.37:g.31324984C>T							p.T1724T	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5172	+			1724					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5172C>T	CCDS45847.1																																																																																				0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	34	0	0	0	1	0	3	34				
KIF21A	55605	broad.mit.edu	37	12	39760173	39760173	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39760173G>A	ENST00000361418.5	-	6	897	c.882C>T	c.(880-882)ggC>ggT	p.G294G	KIF21A_ENST00000361961.3_Silent_p.G294G|KIF21A_ENST00000544797.2_Silent_p.G294G|KIF21A_ENST00000541463.2_Silent_p.G294G|KIF21A_ENST00000395670.3_Silent_p.G294G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAAATGCCTTCTTTTG	0.383																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(880-882)ggC>ggT		kinesin family member 21A							120.0	120.0	120.0					12																	39760173		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760173G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.882C>T	12.37:g.39760173G>A						KIF21A_ENST00000544797.2_Silent_p.G294G|KIF21A_ENST00000541463.2_Silent_p.G294G|KIF21A_ENST00000361418.5_Silent_p.G294G|KIF21A_ENST00000361961.3_Silent_p.G294G	p.G294G			Q7Z4S6	KI21A_HUMAN			6	1301	-		Lung NSC(34;0.179)|all_lung(34;0.213)	294			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.882C>T	CCDS53776.1																																																																																				0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		11	30	0	0	0	1	0	11	30				
NAA15	80155	broad.mit.edu	37	4	140306049	140306049	+	Missense_Mutation	SNP	G	G	A	rs192326816	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140306049G>A	ENST00000296543.5	+	18	2542	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	NAA15_ENST00000515576.1_5'Flank|NAA15_ENST00000398947.1_Missense_Mutation_p.R739H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	740	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAATGAATCGTCTTTTTGGA	0.279													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16476	0.0		0.0	False		,,,				2504	0.0					ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2218-2220)cGt>cAt		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							53.0	50.0	51.0					4																	140306049		1801	4071	5872	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140306049G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2219G>A	4.37:g.140306049G>A	ENSP00000296543:p.Arg740His					NAA15_ENST00000398947.1_Missense_Mutation_p.R739H	p.R740H	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			18	2542	+			740					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2219G>A	CCDS43270.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.360087	0.82353	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44482	0.92;0.92	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	M	0.65975	2.015	0.80722	D	1	P	0.47762	0.9	B	0.43331	0.416	T	0.52026	-0.8630	10	0.51188	T	0.08	-10.0956	20.0411	0.97590	0.0:0.0:1.0:0.0	.	740	Q9BXJ9	NAA15_HUMAN	H	740;614;739	ENSP00000296543:R740H;ENSP00000381920:R739H	ENSP00000296543:R740H	R	+	2	0	NAA15	140525499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.229000	0.78088	2.739000	0.93911	0.655000	0.94253	CGT		0.279	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		23	24	0	0	0	1	0	23	24				
EPHA1	2041	broad.mit.edu	37	7	143096397	143096397	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096397G>A	ENST00000275815.3	-	5	1031	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	315	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGTAATGGCCGCTCTCACAGG	0.652																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(943-945)agC>agT		EPH receptor A1							39.0	44.0	42.0					7																	143096397		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096397G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.945C>T	7.37:g.143096397G>A							p.S315S	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			5	1031	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	315			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.945C>T	CCDS5884.1																																																																																				0.652	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	19	0	0	0	1	0	9	19				
CELSR2	1952	broad.mit.edu	37	1	109814061	109814061	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109814061T>C	ENST00000271332.3	+	27	7791	c.7730T>C	c.(7729-7731)cTg>cCg	p.L2577P	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2577					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCACGTGGCTGCTGGCACTG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7729-7731)cTg>cCg		cadherin, EGF LAG seven-pass G-type receptor 2							111.0	89.0	97.0					1																	109814061		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109814061T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7730T>C	1.37:g.109814061T>C	ENSP00000271332:p.Leu2577Pro					CELSR2_ENST00000498157.1_3'UTR	p.L2577P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	27	7791	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2577					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.7730T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198138	0.79015	.	.	ENSG00000143126	ENST00000271332	T	0.49139	0.79	4.59	4.59	0.56863	GPCR, family 2-like (1);	.	.	.	.	T	0.67496	0.2899	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75980	-0.3126	9	0.72032	D	0.01	.	13.7972	0.63177	0.0:0.0:0.0:1.0	.	2577	Q9HCU4	CELR2_HUMAN	P	2577	ENSP00000271332:L2577P	ENSP00000271332:L2577P	L	+	2	0	CELSR2	109615584	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.945000	0.63568	1.926000	0.55796	0.459000	0.35465	CTG		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	77	0	0	0	1	0	6	77				
RBM34	23029	broad.mit.edu	37	1	235301420	235301420	+	Silent	SNP	C	C	T	rs369954996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235301420C>T	ENST00000408888.3	-	7	1001	c.771G>A	c.(769-771)acG>acA	p.T257T	RBM34_ENST00000366606.3_Silent_p.T252T|RBM34_ENST00000495224.1_5'Flank			P42696	RBM34_HUMAN	RNA binding motif protein 34	257	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCAATGCTTGCGTGGCAGCAC	0.313																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(769-771)acG>acA		RNA binding motif protein 34		C		0,3770		0,0,1885	108.0	104.0	105.0		771	-5.2	0.0	1		105	2,8224		0,2,4111	no	coding-synonymous	RBM34	NM_015014.2		0,2,5996	TT,TC,CC		0.0243,0.0,0.0167		257/431	235301420	2,11994	1885	4113	5998	SO:0001819	synonymous_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235301420C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.771G>A	1.37:g.235301420C>T						RBM34_ENST00000366606.3_Silent_p.T252T	p.T257T			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		7	1001	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	257			RRM 1.		A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	c.771G>A	CCDS41477.2																																																																																				0.313	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		14	21	0	0	0	1	0	14	21				
PLEKHA4	57664	broad.mit.edu	37	19	49362848	49362848	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49362848G>A	ENST00000263265.6	-	7	1125	c.570C>T	c.(568-570)cgC>cgT	p.R190R	PLEKHA4_ENST00000355496.5_Silent_p.R190R|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	190	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ATTCTGAGATGCGCCCCTCTT	0.677																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(568-570)cgC>cgT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							62.0	49.0	53.0					19																	49362848		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362848G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.570C>T	19.37:g.49362848G>A						PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.R190R	p.R190R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1125	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	190			Pro-rich.		Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.570C>T	CCDS12737.1																																																																																				0.677	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			23	37	0	0	0	1	0	23	37				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162608	33162608	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:33162608C>T	ENST00000510327.1	-	0	346																											GACAGCACACCGTGCCGACAG	0.488																																						ENST00000510327.1																			0																																																			0							g.chr5:33162608C>T																													5.37:g.33162608C>T														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.488	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			6	13	0	0	0	1	0	6	13				
TECTA	7007	broad.mit.edu	37	11	121028673	121028673	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121028673C>T	ENST00000392793.1	+	14	4700	c.4429C>T	c.(4429-4431)Cgc>Tgc	p.R1477C	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477C			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAACGGGGTGCGCGGCTGCTT	0.687																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4429-4431)Cgc>Tgc		tectorin alpha							40.0	37.0	38.0					11																	121028673		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028673C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4429C>T	11.37:g.121028673C>T	ENSP00000376543:p.Arg1477Cys					TECTA_ENST00000264037.2_Missense_Mutation_p.R1477C	p.R1477C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4700	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1477						Missense_Mutation	SNP	ENST00000392793.1	37	c.4429C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279312	0.80692	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.05081	3.5;3.5	5.69	4.77	0.60923	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00168	-1.1963	10	0.38643	T	0.18	.	9.054	0.36394	0.1476:0.7788:0.0:0.0736	.	1477	O75443	TECTA_HUMAN	C	1477	ENSP00000376543:R1477C;ENSP00000264037:R1477C	ENSP00000264037:R1477C	R	+	1	0	TECTA	120533883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.623000	0.54224	2.687000	0.91594	0.462000	0.41574	CGC		0.687	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		10	29	0	0	0	1	0	10	29				
AP4M1	9179	broad.mit.edu	37	7	99702674	99702674	+	Missense_Mutation	SNP	G	G	A	rs371712994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99702674G>A	ENST00000359593.4	+	9	838	c.680G>A	c.(679-681)cGc>cAc	p.R227H	AP4M1_ENST00000429084.1_Missense_Mutation_p.R234H|AP4M1_ENST00000421755.1_Missense_Mutation_p.R227H|AP4M1_ENST00000422582.1_Missense_Mutation_p.R99H	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	227	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGAGATGCGCATTGGCTTG	0.542																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(700-702)cGc>cAc		adaptor-related protein complex 4, mu 1 subunit		G	HIS/ARG	0,4406		0,0,2203	127.0	121.0	123.0		680	3.9	1.0	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	AP4M1	NM_004722.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	227/454	99702674	1,13005	2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99702674G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.680G>A	7.37:g.99702674G>A	ENSP00000352603:p.Arg227His					AP4M1_ENST00000422582.1_Missense_Mutation_p.R99H|AP4M1_ENST00000359593.4_Missense_Mutation_p.R227H|AP4M1_ENST00000421755.1_Missense_Mutation_p.R227H	p.R234H			O00189	AP4M1_HUMAN			9	859	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		227			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.701G>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644440	0.47258	0.0	1.16E-4	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	4.77	3.89	0.44902	Clathrin adaptor, mu subunit, C-terminal (3);	0.166270	0.50627	D	0.000118	T	0.35799	0.0944	M	0.69358	2.11	0.40268	D	0.97825	D;P;B;B	0.63880	0.993;0.532;0.307;0.109	P;B;B;B	0.56612	0.802;0.213;0.13;0.13	T	0.25187	-1.0139	10	0.87932	D	0	-7.516	10.5211	0.44920	0.0936:0.0:0.9064:0.0	.	183;179;234;227	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	H	159;234;227;183;227;99	ENSP00000401613:R159H;ENSP00000403663:R234H;ENSP00000352603:R227H;ENSP00000414286:R183H;ENSP00000412185:R227H;ENSP00000406676:R99H	ENSP00000352603:R227H	R	+	2	0	AP4M1	99540610	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.497000	0.60367	1.238000	0.43771	0.561000	0.74099	CGC		0.542	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		9	33	0	0	0	1	0	9	33				
IL1R2	7850	broad.mit.edu	37	2	102626274	102626274	+	Silent	SNP	C	C	T	rs142963191	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102626274C>T	ENST00000332549.3	+	3	547	c.318C>T	c.(316-318)taC>taT	p.Y106Y	IL1R2_ENST00000441002.1_Silent_p.Y106Y|IL1R2_ENST00000393414.2_Silent_p.Y106Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	106	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CTGGCACCTACGTCTGCACTA	0.597													C|||	3	0.000599042	0.0	0.0014	5008	,	,		17593	0.0		0.002	False		,,,				2504	0.0				Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(316-318)taC>taT		interleukin 1 receptor, type II	Anakinra(DB00026)	C	,	2,4404	4.2+/-10.8	0,2,2201	100.0	106.0	104.0		318,318	2.0	1.0	2	dbSNP_134	104	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous,coding-synonymous	IL1R2	NM_004633.3,NM_173343.1	,	0,26,6477	TT,TC,CC		0.2791,0.0454,0.1999	,	106/399,106/399	102626274	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626274C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.318C>T	2.37:g.102626274C>T						IL1R2_ENST00000441002.1_Silent_p.Y106Y|IL1R2_ENST00000393414.2_Silent_p.Y106Y	p.Y106Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			3	547	+			106			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.318C>T	CCDS2054.1																																																																																				0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		32	44	0	0	0	1	0	32	44				
YTHDF2	51441	broad.mit.edu	37	1	29069960	29069960	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29069960G>A	ENST00000373812.3	+	4	1540	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R343Q|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R393Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	393	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAGCTTCGGTCCATTAAT	0.473																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1177-1179)cGg>cAg		YTH domain family, member 2							74.0	72.0	73.0					1																	29069960		1893	4117	6010	SO:0001583	missense	51441				humoral immune response			g.chr1:29069960G>A	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1178G>A	1.37:g.29069960G>A	ENSP00000362918:p.Arg393Gln					YTHDF2_ENST00000542507.1_Missense_Mutation_p.R393Q|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R343Q|YTHDF2_ENST00000478283.1_3'UTR	p.R393Q	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1540	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	393					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1178G>A	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670271	0.47677	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.23348	1.92;1.92;1.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	L	0.52573	1.65	0.53005	D	0.999962	B;B	0.30563	0.285;0.285	B;B	0.26693	0.072;0.072	T	0.02326	-1.1176	9	.	.	.	.	12.4068	0.55445	0.0775:0.0:0.9225:0.0	.	393;393	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	Q	393;393;343;393	ENSP00000444660:R393Q;ENSP00000362918:R393Q;ENSP00000439394:R343Q	.	R	+	2	0	YTHDF2	28942547	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.796000	0.69080	2.802000	0.96397	0.655000	0.94253	CGG		0.473	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		46	49	0	0	0	1	0	46	49				
CSMD2	114784	broad.mit.edu	37	1	34190279	34190279	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34190279G>T	ENST00000373381.4	-	18	2898	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	868	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGGATCCAGACAGTGGTCT	0.527																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2722-2724)Ctg>Atg		CUB and Sushi multiple domains 2							68.0	65.0	66.0					1																	34190279		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190279G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2722C>A	1.37:g.34190279G>T	ENSP00000362479:p.Leu908Met						p.L908M	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			18	2898	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	868			Sushi 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2722C>A		.	.	.	.	.	.	.	.	.	.	G	16.66	3.184605	0.57909	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	5.74	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.079796	0.51477	D	0.000093	T	0.72153	0.3425	M	0.62154	1.92	0.80722	D	1	D;P	0.67145	0.996;0.919	D;P	0.74674	0.984;0.792	T	0.68164	-0.5481	10	0.30078	T	0.28	.	10.1412	0.42736	0.2008:0.0:0.7992:0.0	.	868;908	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	908	ENSP00000362479:L908M	ENSP00000241312:L868M	L	-	1	2	CSMD2	33962866	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.538000	0.53597	2.707000	0.92482	0.655000	0.94253	CTG		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	36	1	0	7.21436e-19	1	7.96902e-19	20	36				
GRIA1	2890	broad.mit.edu	37	5	153149800	153149800	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153149800A>T	ENST00000285900.5	+	13	2438	c.2095A>T	c.(2095-2097)Acc>Tcc	p.T699S	GRIA1_ENST00000521843.2_Missense_Mutation_p.T630S|GRIA1_ENST00000518142.1_Missense_Mutation_p.T619S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T709S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T699S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T709S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	699					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTTTGTGCGGACCACAGAGGA	0.473																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2095-2097)Acc>Tcc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						141.0	129.0	133.0					5																	153149800		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149800A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2095A>T	5.37:g.153149800A>T	ENSP00000285900:p.Thr699Ser					GRIA1_ENST00000518142.1_Missense_Mutation_p.T619S|GRIA1_ENST00000340592.5_Missense_Mutation_p.T699S|GRIA1_ENST00000521843.2_Missense_Mutation_p.T630S|GRIA1_ENST00000518783.1_Missense_Mutation_p.T709S|GRIA1_ENST00000448073.4_Missense_Mutation_p.T709S	p.T699S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2438	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	699					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2095A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573955	0.45902	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.045500	0.85682	D	0.000000	T	0.20700	0.0498	N	0.05554	-0.025	0.80722	D	1	B;B;B;B;B	0.28324	0.207;0.207;0.004;0.173;0.034	B;B;B;B;B	0.28638	0.092;0.092;0.047;0.056;0.074	T	0.10451	-1.0629	10	0.20519	T	0.43	.	14.6134	0.68531	1.0:0.0:0.0:0.0	.	709;709;619;699;699	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	S	699;699;619;653;699;632;630;709;709	ENSP00000285900:T699S;ENSP00000427920:T619S;ENSP00000339343:T699S;ENSP00000427864:T632S;ENSP00000442108:T630S;ENSP00000428994:T709S;ENSP00000415569:T709S	ENSP00000285900:T699S	T	+	1	0	GRIA1	153129993	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.125000	0.94402	2.042000	0.60477	0.533000	0.62120	ACC		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			23	27	0	0	0	1	0	23	27				
PER2	8864	broad.mit.edu	37	2	239176769	239176769	+	Missense_Mutation	SNP	G	G	A	rs201149361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239176769G>A	ENST00000254657.3	-	8	1174	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	PER2_ENST00000440245.1_Missense_Mutation_p.R299W|PER2_ENST00000355768.2_Missense_Mutation_p.R299W|PER2_ENST00000254658.3_Missense_Mutation_p.R299W	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	299					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGTTGGTCCCGCACCTTGACC	0.582																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(895-897)Cgg>Tgg		period circadian clock 2							138.0	132.0	134.0					2																	239176769		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239176769G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.895C>T	2.37:g.239176769G>A	ENSP00000254657:p.Arg299Trp					PER2_ENST00000355768.2_Missense_Mutation_p.R299W|PER2_ENST00000254658.3_Missense_Mutation_p.R299W|PER2_ENST00000440245.1_Missense_Mutation_p.R299W	p.R299W	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	8	1174	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	299					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.895C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	6.117	0.389827	0.11581	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.49432	2.69;0.78;1.79;0.78	4.42	2.61	0.31194	.	0.579593	0.18394	N	0.142579	T	0.35393	0.0930	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.16802	0.019;0.001;0.006;0.001	B;B;B;B	0.11329	0.006;0.0;0.005;0.001	T	0.33675	-0.9859	10	0.87932	D	0	-0.3548	4.6514	0.12596	0.191:0.0:0.6357:0.1733	.	299;299;299;299	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	W	299	ENSP00000254657:R299W;ENSP00000254658:R299W;ENSP00000397516:R299W;ENSP00000348013:R299W	ENSP00000254657:R299W	R	-	1	2	PER2	238841508	0.997000	0.39634	0.002000	0.10522	0.087000	0.18053	4.414000	0.59802	0.590000	0.29694	-0.145000	0.13849	CGG		0.582	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		12	18	0	0	0	1	0	12	18				
TMEM11	8834	broad.mit.edu	37	17	21101727	21101727	+	Silent	SNP	G	G	A	rs150424039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:21101727G>A	ENST00000317635.5	-	2	960	c.489C>T	c.(487-489)gaC>gaT	p.D163D	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	163					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TGTGCAGGTCGTCCTTCCGGA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		18875	0.0		0.001	False		,,,				2504	0.0					ENST00000317635.5																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(487-489)gaC>gaT		transmembrane protein 11							170.0	138.0	149.0					17																	21101727		2203	4300	6503	SO:0001819	synonymous_variant	8834				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding	g.chr17:21101727G>A	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 35"""	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.489C>T	17.37:g.21101727G>A						TMEM11_ENST00000584432.1_5'UTR	p.D163D	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN			2	960	-			163					Q53YB2	Silent	SNP	ENST00000317635.5	37	c.489C>T	CCDS11216.1																																																																																				0.537	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444150.2	NM_003876		64	56	0	0	0	1	0	64	56				
CRIPAK	285464	broad.mit.edu	37	4	1389230	1389230	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1389230G>A	ENST00000324803.4	+	1	3891	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	311					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACG	0.672																																						ENST00000324803.4																			1	Deletion - Frameshift(1)	p.P310fs*95(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(931-933)Gcc>Acc		cysteine-rich PAK1 inhibitor							154.0	157.0	156.0					4																	1389230		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389230G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.931G>A	4.37:g.1389230G>A	ENSP00000323978:p.Ala311Thr						p.A311T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3891	+			311					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.931G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930535	0.34096	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19105	2.17	0.815	-0.165	0.13355	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.58873	0.847	T	0.15037	-1.0451	9	0.45353	T	0.12	.	4.9123	0.13829	0.2555:0.0:0.7445:0.0	.	311	Q8N1N5	CRPAK_HUMAN	T	311;253	ENSP00000323978:A311T	ENSP00000323978:A311T	A	+	1	0	CRIPAK	1379230	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	0.426000	0.21363	-0.067000	0.12976	0.413000	0.27773	GCC		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		112	136	0	0	0	1	0	112	136				
SLIT3	6586	broad.mit.edu	37	5	168114118	168114118	+	Silent	SNP	G	G	A	rs148473454	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:168114118G>A	ENST00000519560.1	-	30	3599	c.3180C>T	c.(3178-3180)tgC>tgT	p.C1060C	SLIT3_ENST00000404867.3_Silent_p.C1060C|SLIT3_ENST00000332966.8_Silent_p.C1067C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1060	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C1060C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACACACTCGCAGCTGGAAC	0.612													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21132	0.0		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			1	Substitution - coding silent(1)	p.C1060C(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3178-3180)tgC>tgT		slit homolog 3 (Drosophila)		G		12,4394	19.1+/-41.9	0,12,2191	53.0	49.0	51.0		3180	-2.8	0.8	5	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		1060/1524	168114118	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168114118G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3180C>T	5.37:g.168114118G>A						SLIT3_ENST00000404867.3_Silent_p.C1060C|SLIT3_ENST00000332966.8_Silent_p.C1067C	p.C1060C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3599	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1060			EGF-like 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3180C>T	CCDS4369.1																																																																																				0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		8	15	0	0	0	1	0	8	15				
ZNF324	25799	broad.mit.edu	37	19	58982235	58982235	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58982235C>T	ENST00000536459.2	+	4	1085	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAGACAACGGGGTGCCTC	0.602																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(376-378)Cgg>Tgg		zinc finger protein 324							92.0	99.0	97.0					19																	58982235		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982235C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.376C>T	19.37:g.58982235C>T	ENSP00000444812:p.Arg126Trp					ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W	p.R126W			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1085	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	126					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.376C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404906	0.42613	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06068	3.35;3.35	3.21	-0.204	0.13200	.	1.832110	0.03211	N	0.176143	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.47528	0.549	T	0.34725	-0.9817	10	0.45353	T	0.12	.	7.2497	0.26142	0.0:0.6682:0.0:0.3318	.	126	O75467	Z324A_HUMAN	W	126;126;126;116	ENSP00000196482:R126W;ENSP00000444812:R126W	ENSP00000196482:R126W	R	+	1	2	ZNF324	63674047	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.098000	0.15189	0.054000	0.16065	-0.391000	0.06502	CGG		0.602	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		7	66	0	0	0	1	0	7	66				
DNAI2	64446	broad.mit.edu	37	17	72306164	72306164	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72306164C>T	ENST00000311014.6	+	11	1423	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	DNAI2_ENST00000446837.2_Silent_p.D452D|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Silent_p.D309D|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000579490.1_Silent_p.D509D|DNAI2_ENST00000582036.1_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	452					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGTGTGTGACGAGGCCCTCT	0.617									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1525-1527)gaC>gaT		dynein, axonemal, intermediate chain 2							58.0	53.0	55.0					17																	72306164		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72306164C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1356C>T	17.37:g.72306164C>T						DNAI2_ENST00000446837.2_Silent_p.D452D|DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000307504.5_Silent_p.D309D|DNAI2_ENST00000311014.6_Silent_p.D452D	p.D509D			Q9GZS0	DNAI2_HUMAN			10	1662	+			452					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1527C>T	CCDS11697.1																																																																																				0.617	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		16	27	0	0	0	1	0	16	27				
PRKAR1B	5575	broad.mit.edu	37	7	590210	590210	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:590210G>A	ENST00000406797.1	-	11	1177	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	AC147651.2_ENST00000517177.1_RNA|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R335W|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R335W	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	335					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTGGCCGCCCGGGGCCGGTTC	0.667																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(1003-1005)Cgg>Tgg		protein kinase, cAMP-dependent, regulatory, type I, beta							13.0	14.0	14.0					7																	590210		2176	4263	6439	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:590210G>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.1003C>T	7.37:g.590210G>A	ENSP00000385749:p.Arg335Trp					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R335W|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R335W|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R335W	p.R335W	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	11	1177	-		Ovarian(82;0.0779)	335					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.1003C>T	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402947	0.62288	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	4.65	4.65	0.58169	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.97065	0.9041	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97920	1.0314	10	0.87932	D	0	-0.2496	12.6157	0.56576	0.0:0.0:0.8342:0.1657	.	335	P31321	KAP1_HUMAN	W	335	ENSP00000440449:R335W;ENSP00000444487:R335W;ENSP00000385749:R335W;ENSP00000385349:R335W;ENSP00000353415:R335W	ENSP00000353415:R335W	R	-	1	2	PRKAR1B	556736	1.000000	0.71417	0.985000	0.45067	0.770000	0.43624	1.989000	0.40707	2.149000	0.67028	0.561000	0.74099	CGG		0.667	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			3	8	0	0	0	1	0	3	8				
KDM1B	221656	broad.mit.edu	37	6	18212817	18212817	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:18212817C>T	ENST00000297792.5	+	14	1446	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	KDM1B_ENST00000388870.2_Silent_p.G656G|KDM1B_ENST00000397244.1_Silent_p.G424G|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	655					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACAGCTTAGGCGCAGGCATCA	0.413																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1966-1968)ggC>ggT		lysine (K)-specific demethylase 1B							180.0	157.0	164.0					6																	18212817		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18212817C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1269C>T	6.37:g.18212817C>T						KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G424G|KDM1B_ENST00000297792.5_Silent_p.G423G	p.G656G			Q8NB78	KDM1B_HUMAN			18	2209	+			655					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1968C>T	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	C	7.342	0.621024	0.14193	.	.	ENSG00000165097	ENST00000449850	.	.	.	6.01	-12.0	0.00017	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57365	-0.7824	4	.	.	.	-8.0814	5.142	0.14963	0.1477:0.0744:0.2758:0.502	.	.	.	.	V	473	.	.	A	+	2	0	KDM1B	18320796	0.000000	0.05858	0.012000	0.15200	0.934000	0.57294	-2.972000	0.00667	-4.442000	0.00049	-0.897000	0.02905	GCG		0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		17	76	0	0	0	1	0	17	76				
EPHA7	2045	broad.mit.edu	37	6	94066493	94066493	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:94066493A>G	ENST00000369303.4	-	5	1450	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	422	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGCTTAAGTCAGAAACTCCAT	0.433																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1264-1266)tcT>tcC		EPH receptor A7							114.0	114.0	114.0					6																	94066493		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066493A>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1266T>C	6.37:g.94066493A>G							p.S422S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1450	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	422			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1266T>C	CCDS5031.1																																																																																				0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			7	23	0	0	0	1	0	7	23				
APOL2	23780	broad.mit.edu	37	22	36624274	36624274	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36624274C>T	ENST00000249066.6	-	6	666	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	APOL2_ENST00000451256.2_Missense_Mutation_p.V176I|APOL2_ENST00000358502.5_Missense_Mutation_p.V64I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	64					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTTCATGACCATGTGACTT	0.458																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(190-192)Gtc>Atc		apolipoprotein L, 2							126.0	137.0	133.0					22																	36624274		2164	4281	6445	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624274C>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.190G>A	22.37:g.36624274C>T	ENSP00000249066:p.Val64Ile					APOL2_ENST00000451256.2_Missense_Mutation_p.V176I|APOL2_ENST00000358502.5_Missense_Mutation_p.V64I	p.V64I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	666	-			64					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.190G>A	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	c	6.245	0.413245	0.11812	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194;ENST00000454728	T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94	3.96	-2.53	0.06326	.	3.358580	0.00644	N	0.000528	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	B;B	0.21071	0.051;0.004	B;B	0.23150	0.044;0.026	T	0.41945	-0.9480	10	0.35671	T	0.21	.	0.8868	0.01246	0.1571:0.3676:0.165:0.3103	.	176;64	B4E1T5;Q9BQE5	.;APOL2_HUMAN	I	64;64;176;64;64	ENSP00000351292:V64I;ENSP00000249066:V64I;ENSP00000403153:V176I;ENSP00000431231:V64I;ENSP00000400486:V64I	ENSP00000249066:V64I	V	-	1	0	APOL2	34954220	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.982000	0.01489	-0.239000	0.09710	-0.473000	0.04963	GTC		0.458	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		6	160	0	0	0	1	0	6	160				
KAT7	11143	broad.mit.edu	37	17	47899039	47899039	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47899039G>A	ENST00000259021.4	+	11	1553	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	KAT7_ENST00000435742.2_Missense_Mutation_p.A239T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A395T|KAT7_ENST00000510819.1_Missense_Mutation_p.A256T|KAT7_ENST00000503935.2_Missense_Mutation_p.A269T|KAT7_ENST00000509773.1_Missense_Mutation_p.A315T|KAT7_ENST00000454930.2_Missense_Mutation_p.A286T	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	425	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGCCTGTTGGCCAAACTTTT	0.448																																						ENST00000503935.2																			0											c.(805-807)Gcc>Acc		K(lysine) acetyltransferase 7							113.0	105.0	108.0					17																	47899039		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47899039G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1273G>A	17.37:g.47899039G>A	ENSP00000259021:p.Ala425Thr					KAT7_ENST00000259021.4_Missense_Mutation_p.A425T|KAT7_ENST00000510819.1_Missense_Mutation_p.A256T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Missense_Mutation_p.A239T|KAT7_ENST00000424009.2_Missense_Mutation_p.A395T|KAT7_ENST00000509773.1_Missense_Mutation_p.A315T|KAT7_ENST00000454930.2_Missense_Mutation_p.A286T	p.A269T			O95251	MYST2_HUMAN			11	1841	+			425					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.805G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410320	0.96072	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.999;0.999;0.999;0.998	D	0.83682	0.0172	9	0.87932	D	0	-11.7956	17.729	0.88372	0.0:0.0:1.0:0.0	.	388;256;315;286;425;395	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251;G5E9K7	.;.;.;.;KAT7_HUMAN;.	T	425;286;315;256;395;269;239	.	ENSP00000259021:A425T	A	+	1	0	KAT7	45254038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.652000	0.98499	2.496000	0.84212	0.563000	0.77884	GCC		0.448	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		32	61	0	0	0	1	0	32	61				
ABCB11	8647	broad.mit.edu	37	2	169791908	169791908	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:169791908G>A	ENST00000263817.6	-	23	2966	c.2842C>T	c.(2842-2844)Cgc>Tgc	p.R948C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	948	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCAACAGTGCGGATGTTACTG	0.438																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57	GRCh37	CM081493	ABCB11	M		c.(2842-2844)Cgc>Tgc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						166.0	156.0	159.0					2																	169791908		1875	4105	5980	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791908G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2842C>T	2.37:g.169791908G>A	ENSP00000263817:p.Arg948Cys						p.R948C	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			23	2966	-			948			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2842C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896947	0.72639	.	.	ENSG00000073734	ENST00000263817	D	0.91996	-2.95	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97493	1.0055	10	0.87932	D	0	.	12.8028	0.57596	0.0:0.0:0.7275:0.2725	.	390;948	B4DZQ8;O95342	.;ABCBB_HUMAN	C	948	ENSP00000263817:R948C	ENSP00000263817:R948C	R	-	1	0	ABCB11	169500154	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.445000	0.44899	2.672000	0.90937	0.655000	0.94253	CGC		0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		49	85	0	0	0	1	0	49	85				
CSF1	1435	broad.mit.edu	37	1	110466717	110466717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110466717C>T	ENST00000329608.6	+	6	1865	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	CSF1_ENST00000420111.2_Nonsense_Mutation_p.Q194*|CSF1_ENST00000369802.3_Nonsense_Mutation_p.Q492*|CSF1_ENST00000344188.5_Nonsense_Mutation_p.Q376*|CSF1_ENST00000369801.1_Nonsense_Mutation_p.Q376*	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	492					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTTCAGCCCGCAGCTCCAGGA	0.622																																						ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1474-1476)Cag>Tag		colony stimulating factor 1 (macrophage)							50.0	53.0	52.0					1																	110466717		2203	4300	6503	SO:0001587	stop_gained	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466717C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1474C>T	1.37:g.110466717C>T	ENSP00000327513:p.Gln492*					CSF1_ENST00000344188.5_Nonsense_Mutation_p.Q376*|CSF1_ENST00000369802.3_Nonsense_Mutation_p.Q492*|CSF1_ENST00000369801.1_Nonsense_Mutation_p.Q376*|CSF1_ENST00000420111.2_Nonsense_Mutation_p.Q194*	p.Q492*	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1865	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	492					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Nonsense_Mutation	SNP	ENST00000329608.6	37	c.1474C>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742768	0.30865	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000369802;ENST00000420111;ENST00000369801	.	.	.	5.04	4.11	0.48088	.	0.401299	0.20690	N	0.087476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	8.2159	0.31511	0.1793:0.6475:0.1732:0.0	.	.	.	.	X	376;492;492;194;376	.	ENSP00000327513:Q492X	Q	+	1	0	CSF1	110268240	0.011000	0.17503	0.011000	0.14972	0.014000	0.08584	0.685000	0.25378	1.312000	0.45043	0.467000	0.42956	CAG		0.622	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		14	30	0	0	0	1	0	14	30				
LIPC	3990	broad.mit.edu	37	15	58830636	58830636	+	Nonsense_Mutation	SNP	C	C	T	rs369262181		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58830636C>T	ENST00000356113.6	+	4	808	c.193C>T	c.(193-195)Cga>Tga	p.R65*	LIPC_ENST00000433326.2_Nonsense_Mutation_p.R65*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R65*|LIPC_ENST00000414170.3_Nonsense_Mutation_p.R65*			P11150	LIPC_HUMAN	lipase, hepatic	65					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.R65*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTGTCAGATTCGAATCAATCA	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19074	0.0		0.0	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - Nonsense(1)	p.R65*(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(193-195)Cga>Tga		lipase, hepatic		C	stop/ARG	1,4383	2.1+/-5.4	0,1,2191	197.0	185.0	189.0		193	2.0	0.0	15		189	0,8584		0,0,4292	no	stop-gained	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0,0.0228,0.0077		65/500	58830636	1,12967	2192	4292	6484	SO:0001587	stop_gained	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830636C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.193C>T	15.37:g.58830636C>T	ENSP00000348425:p.Arg65*					LIPC_ENST00000433326.2_Nonsense_Mutation_p.R65*|LIPC_ENST00000356113.6_Nonsense_Mutation_p.R65*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R65*	p.R65*			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	480	+		Colorectal(260;0.215)	65					A2RUB4|A8K9B6|O43571|P78529|Q99465	Nonsense_Mutation	SNP	ENST00000356113.6	37	c.193C>T	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665692	0.67700	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.08	2.02	0.26589	.	1.063170	0.07265	N	0.868025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	3.7187	0.08448	0.1388:0.5763:0.1274:0.1575	.	.	.	.	X	65	.	ENSP00000299022:R65X	R	+	1	2	LIPC	56617928	0.001000	0.12720	0.029000	0.17559	0.105000	0.19272	0.650000	0.24858	0.253000	0.21552	0.514000	0.50259	CGA		0.488	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			53	74	0	0	0	1	0	53	74				
PKD1L1	168507	broad.mit.edu	37	7	47988033	47988033	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47988033G>A	ENST00000289672.2	-	1	55	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTCCTCGGCCATGTCCTG	0.453																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4-6)gCc>gTc		polycystic kidney disease 1 like 1							96.0	91.0	92.0					7																	47988033		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47988033G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5C>T	7.37:g.47988033G>A	ENSP00000289672:p.Ala2Val						p.A2V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			1	55	-			2					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986036	0.18889	.	.	ENSG00000158683	ENST00000289672	T	0.23552	1.9	2.32	0.292	0.15737	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.25222	-1.0138	9	0.46703	T	0.11	-1.8593	3.7727	0.08647	0.1584:0.2527:0.5888:0.0	.	2	Q8TDX9	PK1L1_HUMAN	V	2	ENSP00000289672:A2V	ENSP00000289672:A2V	A	-	2	0	PKD1L1	47954558	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.347000	0.07750	0.053000	0.16036	0.467000	0.42956	GCC		0.453	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		19	23	0	0	0	1	0	19	23				
DIDO1	11083	broad.mit.edu	37	20	61527732	61527732	+	Silent	SNP	G	G	A	rs369989573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61527732G>A	ENST00000266070.4	-	8	2392	c.2067C>T	c.(2065-2067)agC>agT	p.S689S	DIDO1_ENST00000395335.2_Silent_p.S689S|DIDO1_ENST00000395340.1_Silent_p.S689S|DIDO1_ENST00000395343.1_Silent_p.S689S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	689	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTAAGTCATCGCTGTCATTGA	0.358																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2065-2067)agC>agT		death inducer-obliterator 1		G	,,,	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	77.0		2067,2067,2067,2067	-7.1	0.8	20		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIDO1	NM_001193369.1,NM_001193370.1,NM_033081.2,NM_080797.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	689/2241,689/1190,689/2241,689/1190	61527732	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527732G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2067C>T	20.37:g.61527732G>A						DIDO1_ENST00000395343.1_Silent_p.S689S|DIDO1_ENST00000395340.1_Silent_p.S689S|DIDO1_ENST00000395335.2_Silent_p.S689S	p.S689S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			8	2392	-	Breast(26;5.68e-08)		689			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2067C>T	CCDS33506.1																																																																																				0.358	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		24	25	0	0	0	1	0	24	25				
LRP1	4035	broad.mit.edu	37	12	57559687	57559687	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57559687A>G	ENST00000243077.3	+	16	3096	c.2630A>G	c.(2629-2631)aAc>aGc	p.N877S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	877	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGGAGACAACGATTGCCTG	0.652																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2629-2631)aAc>aGc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84.0	68.0	73.0					12																	57559687		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559687A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2630A>G	12.37:g.57559687A>G	ENSP00000243077:p.Asn877Ser						p.N877S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	16	3096	+			877			LDL-receptor class A 3.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2630A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451167	0.84209	.	.	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	5.22	5.22	0.72569	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95316	0.8416	10	0.28530	T	0.3	.	14.5309	0.67926	1.0:0.0:0.0:0.0	.	877	Q07954	LRP1_HUMAN	S	877	ENSP00000243077:N877S	ENSP00000243077:N877S	N	+	2	0	LRP1	55845954	1.000000	0.71417	0.980000	0.43619	0.888000	0.51559	9.009000	0.93606	2.333000	0.79357	0.533000	0.62120	AAC		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	19	0	0	0	1	0	19	19				
CNNM4	26504	broad.mit.edu	37	2	97427091	97427091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97427091C>T	ENST00000377075.2	+	1	453	c.355C>T	c.(355-357)Cag>Tag	p.Q119*		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	119					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGTCGTCCAGCAGCTGGTCAA	0.617																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(355-357)Cag>Tag		cyclin M4							53.0	49.0	51.0					2																	97427091		2203	4300	6503	SO:0001587	stop_gained	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427091C>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.355C>T	2.37:g.97427091C>T	ENSP00000366275:p.Gln119*						p.Q119*	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	453	+			119					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	ENST00000377075.2	37	c.355C>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	c	31	5.067297	0.93898	.	.	ENSG00000158158	ENST00000377075	.	.	.	4.72	1.56	0.23342	.	1.207980	0.05977	U	0.643450	.	.	.	.	.	.	0.40705	D	0.982511	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-23.4479	12.7379	0.57236	0.4826:0.5174:0.0:0.0	.	.	.	.	X	119	.	ENSP00000366275:Q119X	Q	+	1	0	CNNM4	96790818	0.003000	0.15002	0.996000	0.52242	0.884000	0.51177	0.075000	0.14686	0.338000	0.23692	0.550000	0.68814	CAG		0.617	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		10	15	0	0	0	1	0	10	15				
HSF1	3297	broad.mit.edu	37	8	145535865	145535865	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145535865C>A	ENST00000528838.1	+	9	1237	c.1077C>A	c.(1075-1077)ggC>ggA	p.G359G	HSF1_ENST00000400780.4_Silent_p.G294G|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	359					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ACACCGAGGGCCGGCCTCCCT	0.716																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1075-1077)ggC>ggA		heat shock transcription factor 1							16.0	18.0	17.0					8																	145535865		2198	4295	6493	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535865C>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1077C>A	8.37:g.145535865C>A						HSF1_ENST00000400780.4_Silent_p.G294G	p.G359G	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1237	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		359					A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.1077C>A	CCDS6419.1																																																																																				0.716	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		5	9	1	0	0.00116845	1	0.0011864	5	9				
TMEM8A	58986	broad.mit.edu	37	16	422215	422215	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:422215C>T	ENST00000431232.2	-	13	2248	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.L503L|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	696					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGACGCCGGGCAGGAGGTAGA	0.612																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(2086-2088)ctG>ctA		transmembrane protein 8A							47.0	48.0	48.0					16																	422215		2196	4298	6494	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:422215C>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2088G>A	16.37:g.422215C>T						TMEM8A_ENST00000250930.3_Silent_p.L503L	p.L696L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			13	2248	-			696					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.2088G>A	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238907	0.22711	.	.	ENSG00000129925	ENST00000424078	.	.	.	4.18	-0.412	0.12367	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30238	-0.9985	4	.	.	.	-13.2457	3.1781	0.06575	0.2298:0.4532:0.2223:0.0947	.	.	.	.	Y	164	.	.	C	-	2	0	TMEM8A	362216	0.996000	0.38824	1.000000	0.80357	0.875000	0.50365	0.381000	0.20619	0.374000	0.24650	0.455000	0.32223	TGC		0.612	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	23	0	0	0	1	0	4	23				
ARMCX2	9823	broad.mit.edu	37	X	100912112	100912112	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100912112G>A	ENST00000328766.5	-	5	916	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ARMCX2_ENST00000356824.4_Missense_Mutation_p.P155S|ARMCX2_ENST00000330154.2_Missense_Mutation_p.P155S|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	155	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCCATTGCAGGGGCTTCTGCA	0.642																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(463-465)Cct>Tct		armadillo repeat containing, X-linked 2							29.0	33.0	32.0					X																	100912112		2193	4279	6472	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100912112G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.463C>T	X.37:g.100912112G>A	ENSP00000331662:p.Pro155Ser					ARMCX2_ENST00000330154.2_Missense_Mutation_p.P155S|ARMCX2_ENST00000356824.4_Missense_Mutation_p.P155S	p.P155S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	916	-			155			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.463C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276449	0.23307	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318	T;T;T;T;T	0.44881	1.19;1.19;1.19;0.91;0.91	4.71	2.76	0.32466	.	0.436137	0.17119	N	0.186325	T	0.24774	0.0601	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.11155	-1.0599	10	0.36615	T	0.2	-2.0659	5.5328	0.16995	0.1165:0.3278:0.5557:0.0	.	155	Q7L311	ARMX2_HUMAN	S	155	ENSP00000331662:P155S;ENSP00000328631:P155S;ENSP00000349281:P155S;ENSP00000412481:P155S;ENSP00000410151:P155S	ENSP00000331662:P155S	P	-	1	0	ARMCX2	100798768	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.240000	0.08952	1.055000	0.40461	0.544000	0.68410	CCT		0.642	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		39	4	0	0	0	1	0	39	4				
ALS2	57679	broad.mit.edu	37	2	202574743	202574743	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202574743G>A	ENST00000264276.6	-	27	4513	c.4141C>T	c.(4141-4143)Cac>Tac	p.H1381Y	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1381					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCCAGGGGGTGCAGAGGAGTG	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(4141-4143)Cac>Tac		amyotrophic lateral sclerosis 2 (juvenile)							46.0	48.0	47.0					2																	202574743		1920	4128	6048	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202574743G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4141C>T	2.37:g.202574743G>A	ENSP00000264276:p.His1381Tyr					ALS2_ENST00000457679.2_3'UTR	p.H1381Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			27	4513	-			1381					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.4141C>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021712	0.93462	.	.	ENSG00000003393	ENST00000264276	T	0.30981	1.51	5.67	5.67	0.87782	.	0.048747	0.85682	D	0.000000	T	0.61311	0.2337	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64694	-0.6347	10	0.87932	D	0	.	19.7699	0.96359	0.0:0.0:1.0:0.0	.	1381	Q96Q42	ALS2_HUMAN	Y	1381	ENSP00000264276:H1381Y	ENSP00000264276:H1381Y	H	-	1	0	ALS2	202282988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.673000	0.98631	2.680000	0.91292	0.563000	0.77884	CAC		0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		7	19	0	0	0	1	0	7	19				
SACM1L	22908	broad.mit.edu	37	3	45746682	45746682	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45746682C>T	ENST00000389061.5	+	3	390	c.186C>T	c.(184-186)ggC>ggT	p.G62G	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.A44V|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	62					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTATACTGGGCACAATCCATC	0.353																																						ENST00000541314.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(130-132)gCa>gTa		SAC1 suppressor of actin mutations 1-like (yeast)							113.0	122.0	119.0					3																	45746682		2203	4300	6503	SO:0001819	synonymous_variant	22908					Golgi apparatus		g.chr3:45746682C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.186C>T	3.37:g.45746682C>T						SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000389061.5_Silent_p.G62G	p.A44V			Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	3	193	+			0					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.131C>T	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805641	0.50315	.	.	ENSG00000211456	ENST00000438671;ENST00000541314	T	0.42900	0.96	5.7	4.79	0.61399	.	.	.	.	.	T	0.41673	0.1169	.	.	.	0.25605	N	0.986558	P	0.36354	0.549	B	0.39617	0.305	T	0.41875	-0.9484	8	0.72032	D	0.01	-2.4677	14.5725	0.68220	0.2609:0.7391:0.0:0.0	.	44	B4DK71	.	V	44	ENSP00000443373:A44V	ENSP00000411966:A44V	A	+	2	0	SACM1L	45721686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.619000	0.46401	2.692000	0.91855	0.467000	0.42956	GCA		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		27	52	0	0	0	1	0	27	52				
ZNF526	116115	broad.mit.edu	37	19	42729173	42729173	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42729173C>T	ENST00000301215.3	+	3	843	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	206	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTACCCTCTGCGCCACCCCTG	0.587																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(616-618)tgC>tgT		zinc finger protein 526							140.0	132.0	135.0					19																	42729173		2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729173C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.618C>T	19.37:g.42729173C>T							p.C206C	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	843	+		Prostate(69;0.0704)	206			Glu-rich.		B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.618C>T	CCDS12598.1																																																																																				0.587	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		42	64	0	0	0	1	0	42	64				
STK38L	23012	broad.mit.edu	37	12	27450705	27450705	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27450705C>T	ENST00000389032.3	+	2	221	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.R18W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CAACCATACCCGGGAAAGAGT	0.403																																						ENST00000389032.3																			1	Substitution - Missense(1)	p.R18W(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(52-54)Cgg>Tgg		serine/threonine kinase 38 like							100.0	102.0	101.0					12																	27450705		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27450705C>T	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.52C>T	12.37:g.27450705C>T	ENSP00000373684:p.Arg18Trp					STK38L_ENST00000539577.1_Intron	p.R18W	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			2	221	+	Colorectal(261;0.0847)		18						Missense_Mutation	SNP	ENST00000389032.3	37	c.52C>T	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128997	0.56721	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.18	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.52905	1.665	0.80722	D	1	D	0.62365	0.991	P	0.44860	0.462	T	0.48043	-0.9069	10	0.66056	D	0.02	.	12.1215	0.53893	0.1362:0.7328:0.1309:0.0	.	18	Q9Y2H1	ST38L_HUMAN	W	18	ENSP00000437856:R18W;ENSP00000373684:R18W;ENSP00000439457:R18W;ENSP00000443838:R18W;ENSP00000442253:R18W;ENSP00000440279:R18W	ENSP00000373684:R18W	R	+	1	2	STK38L	27341972	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.716000	0.37981	0.634000	0.30469	-0.282000	0.10007	CGG		0.403	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		38	48	0	0	0	1	0	38	48				
MOB3C	148932	broad.mit.edu	37	1	47075832	47075832	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47075832G>T	ENST00000319928.3	-	3	693	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	MOB3C_ENST00000371940.1_Missense_Mutation_p.L178M|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.L207M	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	155							metal ion binding (GO:0046872)										AGGCGGGTCAGGATCTTGGTG	0.567																																						ENST00000371940.1																			0											c.(532-534)Ctg>Atg		MOB kinase activator 3C							80.0	76.0	77.0					1																	47075832		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075832G>T	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.463C>A	1.37:g.47075832G>T	ENSP00000315113:p.Leu155Met					MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.L155M|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.L207M	p.L178M			Q70IA8	MOL2C_HUMAN			2	3606	-			155					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.532C>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747736	0.89663	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.64567	1.98	0.80722	D	1	P	0.45768	0.866	P	0.45138	0.471	T	0.64618	-0.6365	9	0.45353	T	0.12	-24.0045	17.8263	0.88666	0.0:0.0:1.0:0.0	.	155	Q70IA8	MOB3C_HUMAN	M	155;207;178	.	ENSP00000271139:L207M	L	-	1	2	MOBKL2C	46848419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.744000	0.68664	2.514000	0.84764	0.561000	0.74099	CTG		0.567	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		18	24	1	0	3.52763e-06	1	3.66169e-06	18	24				
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1126-1128)Gca>Aca		synaptonemal complex protein 2							72.0	70.0	71.0					20																	58476773		2199	4288	6487	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58476773C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1126G>A	20.37:g.58476773C>T	ENSP00000350162:p.Ala376Thr					SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T	p.A376T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		16	1351	-	all_lung(29;0.00344)		376					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1126G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		16	44	0	0	0	1	0	16	44				
ZNF438	220929	broad.mit.edu	37	10	31139109	31139109	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31139109C>T	ENST00000361310.3	-	6	554	c.225G>A	c.(223-225)atG>atA	p.M75I	ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000452305.1_Missense_Mutation_p.M65I|ZNF438_ENST00000538351.2_Missense_Mutation_p.M26I|ZNF438_ENST00000436087.2_Missense_Mutation_p.M75I|ZNF438_ENST00000413025.1_Missense_Mutation_p.M75I|ZNF438_ENST00000444692.2_Missense_Mutation_p.M65I|ZNF438_ENST00000331737.6_Missense_Mutation_p.M65I|ZNF438_ENST00000442986.1_Missense_Mutation_p.M75I			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	75					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTGGGTGGACATCCCCAGCA	0.532																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(76-78)atG>atA		zinc finger protein 438							138.0	134.0	135.0					10																	31139109		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31139109C>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.225G>A	10.37:g.31139109C>T	ENSP00000354663:p.Met75Ile					ZNF438_ENST00000331737.6_Missense_Mutation_p.M65I|ZNF438_ENST00000436087.2_Missense_Mutation_p.M75I|ZNF438_ENST00000444692.2_Missense_Mutation_p.M65I|ZNF438_ENST00000452305.1_Missense_Mutation_p.M65I|ZNF438_ENST00000361310.3_Missense_Mutation_p.M75I|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000442986.1_Missense_Mutation_p.M75I|ZNF438_ENST00000413025.1_Missense_Mutation_p.M75I	p.M26I	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	832	-		Prostate(175;0.0587)	75					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.78G>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679683	0.29783	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.63	4.72	0.59763	.	0.279498	0.45606	D	0.000349	T	0.52917	0.1764	L	0.59436	1.845	0.29125	N	0.88	B;B	0.20052	0.024;0.041	B;B	0.19946	0.012;0.027	T	0.55623	-0.8112	10	0.66056	D	0.02	-5.9807	10.2331	0.43266	0.1369:0.7904:0.0:0.0727	.	75;65	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	I	65;75;75;75;75;65;65;26	ENSP00000333571:M65I;ENSP00000354663:M75I;ENSP00000406934:M75I;ENSP00000412363:M75I;ENSP00000387546:M75I;ENSP00000413060:M65I;ENSP00000410898:M65I;ENSP00000445461:M26I	ENSP00000333571:M65I	M	-	3	0	ZNF438	31179115	0.491000	0.26019	0.969000	0.41365	0.599000	0.36880	-0.254000	0.08781	1.357000	0.45904	0.655000	0.94253	ATG		0.532	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		7	82	0	0	0	1	0	7	82				
ATG2A	23130	broad.mit.edu	37	11	64678561	64678561	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678561A>G	ENST00000377264.3	-	10	1527	c.1415T>C	c.(1414-1416)tTc>tCc	p.F472S	ATG2A_ENST00000421419.2_Missense_Mutation_p.F472S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	472					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)				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						AAGGTGATGGAAGTCTCGGGA	0.597																																						ENST00000421419.2																			0				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						c.(1414-1416)tTc>tCc		autophagy related 2A							87.0	83.0	84.0					11																	64678561		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64678561A>G		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.1415T>C	11.37:g.64678561A>G	ENSP00000366475:p.Phe472Ser					ATG2A_ENST00000377264.3_Missense_Mutation_p.F472S	p.F472S			Q2TAZ0	ATG2A_HUMAN			10	1529	-			472					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1415T>C	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572860	0.86542	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.11063	2.81;2.81	4.59	4.59	0.56863	.	0.056991	0.64402	D	0.000001	T	0.24812	0.0602	L	0.54323	1.7	0.51767	D	0.999933	D	0.76494	0.999	D	0.63488	0.915	T	0.00686	-1.1610	10	0.87932	D	0	.	12.2499	0.54591	1.0:0.0:0.0:0.0	.	472	Q2TAZ0	ATG2A_HUMAN	S	472	ENSP00000410522:F472S;ENSP00000366475:F472S	ENSP00000366475:F472S	F	-	2	0	ATG2A	64435137	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.264000	0.65513	2.063000	0.61619	0.379000	0.24179	TTC		0.597	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	22	0	0	0	1	0	7	22				
RBM39	9584	broad.mit.edu	37	20	34309768	34309768	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34309768T>C	ENST00000253363.6	-	9	742	c.719A>G	c.(718-720)aAc>aGc	p.N240S	RBM39_ENST00000407261.4_Missense_Mutation_p.N83S|RBM39_ENST00000361162.6_Missense_Mutation_p.N240S|RBM39_ENST00000528062.3_Missense_Mutation_p.N218S			Q14498	RBM39_HUMAN	RNA binding motif protein 39	240					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTGTAAATTGTTTGCCATTGC	0.408																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(718-720)aAc>aGc		RNA binding motif protein 39							170.0	154.0	159.0					20																	34309768		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34309768T>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.719A>G	20.37:g.34309768T>C	ENSP00000253363:p.Asn240Ser					RBM39_ENST00000253363.6_Missense_Mutation_p.N240S|RBM39_ENST00000528062.3_Missense_Mutation_p.N218S|RBM39_ENST00000407261.4_Missense_Mutation_p.N83S	p.N240S	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			9	1103	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		240					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.719A>G	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562905	0.45694	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.19669	2.15;2.15;2.13;2.45	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.12831	0.26	0.80722	D	1	B;B;B;B;B	0.17268	0.001;0.001;0.007;0.021;0.001	B;B;B;B;B	0.14023	0.003;0.001;0.01;0.01;0.001	T	0.08722	-1.0708	10	0.07644	T	0.81	.	15.4442	0.75216	0.0:0.0:0.0:1.0	.	218;218;240;240;216	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	S	240;240;218;83	ENSP00000253363:N240S;ENSP00000354437:N240S;ENSP00000436747:N218S;ENSP00000384541:N83S	ENSP00000253363:N240S	N	-	2	0	RBM39	33773182	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.936000	0.87665	2.115000	0.64714	0.529000	0.55759	AAC		0.408	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		20	36	0	0	0	1	0	20	36				
CYTH4	27128	broad.mit.edu	37	22	37692065	37692065	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37692065C>A	ENST00000248901.6	+	4	380	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	CYTH4_ENST00000402997.1_Missense_Mutation_p.L65M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L65M|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	65	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGAGAAGGAGCTGTGTATTGG	0.637																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(193-195)Ctg>Atg		cytohesin 4							128.0	90.0	103.0					22																	37692065		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692065C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.193C>A	22.37:g.37692065C>A	ENSP00000248901:p.Leu65Met					CYTH4_ENST00000402997.1_Missense_Mutation_p.L65M|CYTH4_ENST00000405206.3_Missense_Mutation_p.L65M|CYTH4_ENST00000439667.1_3'UTR	p.L65M	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			4	380	+			65			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.193C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	1.917	-0.449322	0.04572	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.06	2.89	0.33648	SEC7-like (4);	0.199152	0.44483	N	0.000442	T	0.30039	0.0752	N	0.25144	0.715	0.80722	D	1	B;B	0.28026	0.003;0.198	B;B	0.28305	0.032;0.088	T	0.04294	-1.0962	10	0.11182	T	0.66	.	4.4079	0.11418	0.187:0.6236:0.0:0.1894	.	65;78	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	M	65;65;78;65;65	ENSP00000405442:L65M;ENSP00000248901:L65M;ENSP00000385997:L65M;ENSP00000384280:L65M	ENSP00000248901:L65M	L	+	1	2	CYTH4	36022011	0.000000	0.05858	0.926000	0.36857	0.446000	0.32137	-0.642000	0.05427	0.469000	0.27268	0.563000	0.77884	CTG		0.637	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			6	16	1	0	5.9392e-07	1	6.20451e-07	6	16				
PCDHGA6	56109	broad.mit.edu	37	5	140753679	140753679	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140753679G>A	ENST00000517434.1	+	1	29	c.29G>A	c.(28-30)cGc>cAc	p.R10H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCGCAGCGCAGCGAGCAG	0.587																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(28-30)cGc>cAc									12.0	15.0	14.0					5																	140753679		1973	4164	6137	SO:0001583	missense	0							g.chr5:140753679G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.29G>A	5.37:g.140753679G>A	ENSP00000429601:p.Arg10His					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R10H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	29	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.29G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.503	0.653099	0.14580	.	.	ENSG00000253731	ENST00000517434	T	0.45276	0.9	5.0	-0.531	0.11894	.	.	.	.	.	T	0.31918	0.0812	L	0.52823	1.66	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.003	T	0.32188	-0.9916	9	0.15499	T	0.54	.	7.2546	0.26168	0.0999:0.0:0.3145:0.5855	.	10;10	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	10	ENSP00000429601:R10H	ENSP00000429601:R10H	R	+	2	0	PCDHGA6	140733863	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.155000	0.16362	-0.210000	0.10140	-0.467000	0.05162	CGC		0.587	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	9	0	0	0	1	0	3	9				
EFHB	151651	broad.mit.edu	37	3	19921210	19921210	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:19921210G>A	ENST00000295824.9	-	13	2576	c.2415C>T	c.(2413-2415)caC>caT	p.H805H	EFHB_ENST00000344838.4_Silent_p.H675H	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	805							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTTCTCCTCTGTGATGCTTTT	0.368																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(2413-2415)caC>caT		EF-hand domain family, member B							204.0	185.0	192.0					3																	19921210		2203	4300	6503	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19921210G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2415C>T	3.37:g.19921210G>A						EFHB_ENST00000344838.4_Silent_p.H675H	p.H805H	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			13	2576	-			805					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.2415C>T	CCDS33715.2																																																																																				0.368	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		34	70	0	0	0	1	0	34	70				
TTLL13	440307	broad.mit.edu	37	15	90802028	90802028	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90802028G>T	ENST00000339615.5	+	10	1511	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000438251.1_Missense_Mutation_p.K407N	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAAGTAAAGGATGCACTTC	0.512																																						ENST00000438251.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(1219-1221)aaG>aaT		tubulin tyrosine ligase-like family, member 13							155.0	121.0	132.0					15																	90802028		2199	4298	6497	SO:0001583	missense	440307				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90802028G>T	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1221G>T	15.37:g.90802028G>T	ENSP00000345294:p.Lys407Asn					RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000339615.5_Missense_Mutation_p.K407N	p.K407N			A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		10	1511	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		407			TTL.			Missense_Mutation	SNP	ENST00000339615.5	37	c.1221G>T	CCDS32328.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093616	0.76756	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.07114	3.22;3.22	5.7	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	H	0.98407	4.225	0.45930	D	0.998761	D	0.89917	1.0	D	0.97110	1.0	T	0.57791	-0.7750	10	0.87932	D	0	.	9.2886	0.37773	0.1636:0.0:0.8364:0.0	.	407	A6NNM8-2	.	N	407	ENSP00000413362:K407N;ENSP00000345294:K407N	ENSP00000345294:K407N	K	+	3	2	TTLL13	88603032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.728000	0.54991	1.398000	0.46701	0.655000	0.94253	AAG		0.512	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964		31	71	1	0	9.65021e-13	1	1.04556e-12	31	71				
TIAM1	7074	broad.mit.edu	37	21	32554924	32554924	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:32554924G>A	ENST00000286827.3	-	16	3172	c.2701C>T	c.(2701-2703)Cgt>Tgt	p.R901C	TIAM1_ENST00000541036.1_Missense_Mutation_p.R841C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	901	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCAGCAGCACGATTATTGATC	0.488																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2701-2703)Cgt>Tgt		T-cell lymphoma invasion and metastasis 1							78.0	72.0	74.0					21																	32554924		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32554924G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2701C>T	21.37:g.32554924G>A	ENSP00000286827:p.Arg901Cys					TIAM1_ENST00000541036.1_Missense_Mutation_p.R841C	p.R901C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			16	3172	-			901			PDZ.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2701C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883028	0.51908	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.29142	1.58;1.58	4.42	2.43	0.29744	PDZ/DHR/GLGF (4);	0.141968	0.44902	D	0.000402	T	0.25005	0.0607	L	0.34521	1.04	0.29180	N	0.876575	P;D;D	0.53619	0.952;0.961;0.961	P;P;P	0.48627	0.448;0.584;0.584	T	0.08868	-1.0701	10	0.59425	D	0.04	.	4.8025	0.13303	0.1118:0.0:0.6032:0.285	.	841;841;901	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	C	901;742;841	ENSP00000286827:R901C;ENSP00000441570:R841C	ENSP00000286827:R901C	R	-	1	0	TIAM1	31476795	0.253000	0.23982	0.754000	0.31244	0.973000	0.67179	1.856000	0.39389	1.091000	0.41335	0.555000	0.69702	CGT		0.488	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		12	9	0	0	0	1	0	12	9				
HECTD4	283450	broad.mit.edu	37	12	112622030	112622030	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622030G>T	ENST00000430131.2	-	60	10619	c.9474C>A	c.(9472-9474)ccC>ccA	p.P3158P	HECTD4_ENST00000550722.1_Silent_p.P3434P|HECTD4_ENST00000377560.5_Silent_p.P3408P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3158					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGCGGCGAGGGGCTGGTTGT	0.607																																						ENST00000550722.1																			0											c.(10300-10302)ccC>ccA		HECT domain containing E3 ubiquitin protein ligase 4							98.0	111.0	107.0					12																	112622030		1960	4146	6106	SO:0001819	synonymous_variant	283450							g.chr12:112622030G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9474C>A	12.37:g.112622030G>T						HECTD4_ENST00000377560.5_Silent_p.P3408P|HECTD4_ENST00000430131.2_Silent_p.P3158P	p.P3434P	NM_001109662.3	NP_001103132.3					61	10697	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10302C>A																																																																																					0.607	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		14	113	1	0	2.32078e-09	1	2.46314e-09	14	113				
C18orf25	147339	broad.mit.edu	37	18	43796461	43796461	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43796461T>C	ENST00000282059.6	+	2	989	c.615T>C	c.(613-615)agT>agC	p.S205S	C18orf25_ENST00000321319.6_Silent_p.S205S	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	205										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AGGACAGTAGTACCAGTGATA	0.498																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(613-615)agT>agC		chromosome 18 open reading frame 25							62.0	63.0	63.0					18																	43796461		2059	4194	6253	SO:0001819	synonymous_variant	147339							g.chr18:43796461T>C	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.615T>C	18.37:g.43796461T>C						C18orf25_ENST00000321319.6_Silent_p.S205S	p.S205S	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			2	989	+			205					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.615T>C	CCDS42430.1																																																																																				0.498	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		16	20	0	0	0	1	0	16	20				
NEUROG3	50674	broad.mit.edu	37	10	71332424	71332424	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71332424G>A	ENST00000242462.4	-	2	405	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	126	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.R126C(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGGGCGAAGCGCAGCGTCTCG	0.652																																						ENST00000242462.4																			1	Substitution - Missense(1)	p.R126C(1)	large_intestine(1)	endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(376-378)Cgc>Tgc		neurogenin 3							86.0	72.0	77.0					10																	71332424		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332424G>A	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.376C>T	10.37:g.71332424G>A	ENSP00000242462:p.Arg126Cys						p.R126C	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	405	-			126			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.376C>T	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257390	0.80246	.	.	ENSG00000122859	ENST00000242462	D	0.98280	-4.84	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.41712	D	0.000825	D	0.99290	0.9752	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98574	1.0647	10	0.87932	D	0	-20.2816	11.441	0.50096	0.0:0.0:0.8197:0.1803	.	126	Q9Y4Z2	NGN3_HUMAN	C	126	ENSP00000242462:R126C	ENSP00000242462:R126C	R	-	1	0	NEUROG3	71002430	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.236000	0.58675	2.355000	0.79922	0.655000	0.94253	CGC		0.652	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		7	32	0	0	0	1	0	7	32				
TXNDC8	255220	broad.mit.edu	37	9	113100054	113100054	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113100054G>A	ENST00000374511.3	-	1	71	c.23C>T	c.(22-24)aCg>aTg	p.T8M	TXNDC8_ENST00000374510.4_Splice_Site_p.T8M|TXNDC8_ENST00000374507.4_Splice_Site_p.T8M|TXNDC8_ENST00000423740.2_Splice_Site_p.T8M			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	8	Thioredoxin.				acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)		p.T8R(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATACTTGCCGTGTCTTTAAT	0.368																																						ENST00000374507.4																			1	Substitution - Missense(1)	p.T8R(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.e1+1		thioredoxin domain containing 8 (spermatozoa)							114.0	112.0	113.0					9																	113100054		2203	4300	6503	SO:0001630	splice_region_variant	255220				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity	g.chr9:113100054G>A	BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 3"""						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.24+1C>T	9.37:g.113100054G>A						TXNDC8_ENST00000374510.4_Splice_Site_p.T8_splice|TXNDC8_ENST00000423740.2_Splice_Site_p.T8_splice|TXNDC8_ENST00000374511.3_Splice_Site_p.T8_splice	p.T8_splice			Q6A555	TXND8_HUMAN			1	73	-			8			Thioredoxin.		A1L4I2|A6NDK7|Q5T934	Splice_Site	SNP	ENST00000374511.3	37	c.24_splice		.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334552	0.05278	.	.	ENSG00000204193	ENST00000374511;ENST00000374510;ENST00000423740;ENST00000374507	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	4.81	-3.68	0.04463	.	2.361900	0.01538	N	0.019097	T	0.01870	0.0059	N	0.02192	-0.645	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.002;0.01	T	0.44892	-0.9298	10	0.41790	T	0.15	7.4197	5.4666	0.16646	0.2647:0.0:0.4584:0.2769	.	8;8	B7ZME0;Q6A555-2	.;.	M	8	ENSP00000363635:T8M;ENSP00000363634:T8M;ENSP00000408768:T8M;ENSP00000363631:T8M	ENSP00000363631:T8M	T	-	2	0	TXNDC8	112139875	0.404000	0.25328	0.002000	0.10522	0.004000	0.04260	-0.048000	0.11944	-1.405000	0.02048	-0.972000	0.02603	ACG		0.368	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001003936	Missense_Mutation	10	22	0	0	0	1	0	10	22				
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532702	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24532702G>A	ENST00000342740.5	+	31	3093	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H	LRRC16B_ENST00000334420.7_Missense_Mutation_p.R76H	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGG	0.597																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cGc>cAc		leucine rich repeat containing 16B							40.0	49.0	46.0					14																	24532702		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532702G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2939G>A	14.37:g.24532702G>A	ENSP00000340467:p.Arg980His					LRRC16B_ENST00000334420.7_Missense_Mutation_p.R76H	p.R980H	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093	+			980					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2939G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876944	0.72180	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.52295	0.67;0.67	5.11	5.11	0.69529	.	0.000000	0.43919	D	0.000513	T	0.64483	0.2602	L	0.57536	1.79	0.47778	D	0.999519	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.98	T	0.66960	-0.5791	10	0.87932	D	0	-18.9537	14.3985	0.67027	0.0:0.0:1.0:0.0	.	76;980	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	H	980;76	ENSP00000340467:R980H;ENSP00000334701:R76H	ENSP00000334701:R76H	R	+	2	0	LRRC16B	23602542	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.144000	0.64832	2.534000	0.85438	0.555000	0.69702	CGC		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		5	21	0	0	0	1	0	5	21				
ACACA	31	broad.mit.edu	37	17	35563696	35563696	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35563696C>T	ENST00000394406.2	-	32	4028		c.e32+1		ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000353139.5_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACATTATACCTTATCCTCA	0.443																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.e32+1		acetyl-CoA carboxylase alpha	Biotin(DB00121)						115.0	93.0	100.0					17																	35563696		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35563696C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3837+1G>A	17.37:g.35563696C>T						ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000335166.5_Splice_Site		NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			32	4430	-		Breast(25;0.00157)|Ovarian(249;0.15)						B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37		CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864771	0.32977	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1357	0.59407	0.0:0.9271:0.0:0.0728	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32637809	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	3.440000	0.52886	2.703000	0.92315	0.460000	0.39030	.		0.443	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	15	19	0	0	0	1	0	15	19				
IRAK3	11213	broad.mit.edu	37	12	66638758	66638758	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66638758G>A	ENST00000261233.4	+	10	1538	c.1117G>A	c.(1117-1119)Gta>Ata	p.V373I	IRAK3_ENST00000457197.2_Missense_Mutation_p.V312I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGGATGTAGAGTAGTGTTAGA	0.318																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1117-1119)Gta>Ata		interleukin-1 receptor-associated kinase 3							88.0	85.0	86.0					12																	66638758		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638758G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1117G>A	12.37:g.66638758G>A	ENSP00000261233:p.Val373Ile					IRAK3_ENST00000457197.2_Missense_Mutation_p.V312I	p.V373I	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1538	+			373			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1117G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341232	0.60963	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.34072	1.38;1.38	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.53530	0.1802	L	0.45581	1.43	0.47778	D	0.999514	D;D	0.89917	1.0;0.999	D;D	0.85130	0.996;0.997	T	0.39542	-0.9609	9	.	.	.	-23.7527	16.0569	0.80812	0.0:0.0:1.0:0.0	.	312;373	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	373;312	ENSP00000261233:V373I;ENSP00000409852:V312I	.	V	+	1	0	IRAK3	64925025	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	4.865000	0.62998	2.861000	0.98227	0.655000	0.94253	GTA		0.318	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			34	45	0	0	0	1	0	34	45				
CSPG5	10675	broad.mit.edu	37	3	47618849	47618849	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47618849C>T	ENST00000383738.2	-	2	2765	c.667G>A	c.(667-669)Gca>Aca	p.A223T	CSPG5_ENST00000264723.4_Missense_Mutation_p.A223T|CSPG5_ENST00000456150.1_Missense_Mutation_p.A85T|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	223					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCAGATCTGCGCCACGACCC	0.557																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(667-669)Gca>Aca		chondroitin sulfate proteoglycan 5 (neuroglycan C)							44.0	45.0	45.0					3																	47618849		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618849C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.667G>A	3.37:g.47618849C>T	ENSP00000373244:p.Ala223Thr					CSPG5_ENST00000456150.1_Missense_Mutation_p.A85T|CSPG5_ENST00000264723.4_Missense_Mutation_p.A223T	p.A223T	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2765	-			223					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.667G>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866045	0.51588	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.43688	0.94;0.94;0.94	4.41	3.52	0.40303	Chondroitin sulphate attachment (1);	0.441528	0.22305	N	0.061812	T	0.23846	0.0577	N	0.14661	0.345	0.26519	N	0.974451	B;B	0.20368	0.044;0.035	B;B	0.17979	0.02;0.012	T	0.14227	-1.0480	10	0.22109	T	0.4	-8.8247	10.132	0.42685	0.0:0.9028:0.0:0.0972	.	223;223	O95196;O95196-2	CSPG5_HUMAN;.	T	85;223;223	ENSP00000392096:A85T;ENSP00000373244:A223T;ENSP00000264723:A223T	ENSP00000264723:A223T	A	-	1	0	CSPG5	47593853	0.000000	0.05858	0.915000	0.36163	0.996000	0.88848	0.319000	0.19522	1.162000	0.42619	0.643000	0.83706	GCA		0.557	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		5	13	0	0	0	1	0	5	13				
LEP	3952	broad.mit.edu	37	7	127894591	127894591	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127894591C>T	ENST00000308868.4	+	3	330	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	93					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						CTTCCAGAAACGTGATCCAAA	0.547																																						ENST00000308868.4																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(277-279)aaC>aaT		leptin							144.0	135.0	138.0					7																	127894591		2203	4300	6503	SO:0001819	synonymous_variant	3952				adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		g.chr7:127894591C>T		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.279C>T	7.37:g.127894591C>T							p.N93N	NM_000230.2	NP_000221.1	P41159	LEP_HUMAN			3	330	+			93					O15158|Q56A88	Silent	SNP	ENST00000308868.4	37	c.279C>T	CCDS5800.1																																																																																				0.547	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			13	55	0	0	0	1	0	13	55				
ZMIZ1	57178	broad.mit.edu	37	10	81060603	81060603	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81060603C>T	ENST00000334512.5	+	17	2495	c.1923C>T	c.(1921-1923)cgC>cgT	p.R641R		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	641					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCATTGAGCGCGGCGACAACA	0.642																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1921-1923)cgC>cgT		zinc finger, MIZ-type containing 1							115.0	110.0	112.0					10																	81060603		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060603C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1923C>T	10.37:g.81060603C>T							p.R641R	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		17	2495	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		641					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1923C>T	CCDS7357.1																																																																																				0.642	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	20	0	0	0	1	0	15	20				
PPIP5K2	23262	broad.mit.edu	37	5	102487001	102487001	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102487001C>A	ENST00000358359.3	+	9	1460	c.951C>A	c.(949-951)tcC>tcA	p.S317S	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Silent_p.S317S|PPIP5K2_ENST00000414217.1_Silent_p.S317S	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	317					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGGACAGTCCTATGTCTGTG	0.294																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(949-951)tcC>tcA		diphosphoinositol pentakisphosphate kinase 2							98.0	103.0	101.0					5																	102487001		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102487001C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.951C>A	5.37:g.102487001C>A						PPIP5K2_ENST00000414217.1_Silent_p.S317S|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.S317S	p.S317S			O43314	VIP2_HUMAN			9	1524	+			317					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.951C>A																																																																																					0.294	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		33	53	1	0	1.36615e-20	1	1.51493e-20	33	53				
CNTRL	11064	broad.mit.edu	37	9	123912636	123912636	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123912636A>G	ENST00000373855.1	+	25	4098	c.3838A>G	c.(3838-3840)Act>Gct	p.T1280A	CNTRL_ENST00000373847.1_Missense_Mutation_p.T728A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1280A|CNTRL_ENST00000373850.1_Missense_Mutation_p.T728A			Q7Z7A1	CNTRL_HUMAN	centriolin	1280	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CACCCCTGGCACTGTTGTTTA	0.587																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3838-3840)Act>Gct		centriolin							121.0	112.0	115.0					9																	123912636		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912636A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3838A>G	9.37:g.123912636A>G	ENSP00000362962:p.Thr1280Ala					CNTRL_ENST00000373850.1_Missense_Mutation_p.T728A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1280A|CNTRL_ENST00000373847.1_Missense_Mutation_p.T728A	p.T1280A			Q7Z7A1	CNTRL_HUMAN			25	4098	+			1280			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3838A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968252	0.74131	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.71	5.71	0.89125	.	.	.	.	.	T	0.44623	0.1302	M	0.66939	2.045	0.33727	D	0.617724	D;D	0.56521	0.976;0.959	P;P	0.54060	0.741;0.556	T	0.62959	-0.6743	9	0.72032	D	0.01	.	10.7927	0.46443	0.8498:0.0:0.0:0.1502	.	1280;1280	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	A	1280;1280;1280;36;762;728;728	ENSP00000362962:T1280A;ENSP00000238341:T1280A;ENSP00000362956:T728A;ENSP00000362953:T728A	ENSP00000238341:T1280A	T	+	1	0	CNTRL	122952457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.546000	0.45778	2.183000	0.69458	0.523000	0.50628	ACT		0.587	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		23	36	0	0	0	1	0	23	36				
DUS1L	64118	broad.mit.edu	37	17	80016226	80016226	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80016226C>A	ENST00000354321.7	-	12	1758	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	DUS1L_ENST00000306796.5_Missense_Mutation_p.D425Y			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	425							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGGGCAGTCTGCAGTCTCT	0.657																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1273-1275)Gac>Tac		dihydrouridine synthase 1-like (S. cerevisiae)							74.0	90.0	84.0					17																	80016226		2203	4299	6502	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016226C>A		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1273G>T	17.37:g.80016226C>A	ENSP00000346280:p.Asp425Tyr					DUS1L_ENST00000306796.5_Missense_Mutation_p.D425Y	p.D425Y			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		12	1758	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		425					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.1273G>T	CCDS32775.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.94|12.94	2.089301|2.089301	0.36855|0.36855	.|.	.|.	ENSG00000169718|ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088|ENST00000538833	T;T|.	0.37752|.	1.18;1.18|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73337|0.73337	0.3574|0.3574	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D|B	0.76494|0.26258	0.999|0.145	D|B	0.71184|0.34180	0.972|0.177	T|T	0.73512|0.73512	-0.3959|-0.3959	10|8	0.87932|0.42905	D|T	0|0.14	-33.3273|-33.3273	17.0488|17.0488	0.86513|0.86513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	425|291	Q6P1R4|Q9BTJ3	DUS1L_HUMAN|.	Y|I	425;425;288|289	ENSP00000346280:D425Y;ENSP00000303515:D425Y|.	ENSP00000303515:D425Y|ENSP00000445110:R289I	D|R	-|-	1|2	0|0	DUS1L|DUS1L	77609515|77609515	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.201000|0.201000	0.24016|0.24016	6.741000|6.741000	0.74837|0.74837	2.497000|2.497000	0.84241|0.84241	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		16	87	1	0	4.7546e-09	1	5.0353e-09	16	87				
SSBP4	170463	broad.mit.edu	37	19	18538785	18538785	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18538785A>G	ENST00000270061.7	+	4	566	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.Q91R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	91						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						AAGGCCTTCCAGGACTATGTG	0.682																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(271-273)cAg>cGg		single stranded DNA binding protein 4							32.0	34.0	34.0					19																	18538785		2202	4299	6501	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18538785A>G		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.272A>G	19.37:g.18538785A>G	ENSP00000270061:p.Gln91Arg					SSBP4_ENST00000348495.5_Missense_Mutation_p.Q91R	p.Q91R	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			4	492	+			91					Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.272A>G	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702951	0.68501	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.67	3.67	0.42095	.	0.078014	0.51477	U	0.000099	T	0.53174	0.1780	L	0.43152	1.355	0.38641	D	0.951604	B;P	0.37731	0.425;0.607	B;B	0.43155	0.232;0.41	T	0.61342	-0.7082	9	0.72032	D	0.01	-14.9598	10.3247	0.43785	1.0:0.0:0.0:0.0	.	91;91	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	R	91	.	ENSP00000270061:Q91R	Q	+	2	0	SSBP4	18399785	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	5.232000	0.65332	1.524000	0.49035	0.379000	0.24179	CAG		0.682	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		16	17	0	0	0	1	0	16	17				
OR51B4	79339	broad.mit.edu	37	11	5322930	5322930	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5322930G>T	ENST00000380224.1	-	1	296	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	83					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTAGCAGCAGGACACCCAGG	0.512																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(247-249)Ctg>Atg		olfactory receptor, family 51, subfamily B, member 4							133.0	123.0	126.0					11																	5322930		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322930G>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.247C>A	11.37:g.5322930G>T	ENSP00000369573:p.Leu83Met					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.L83M	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	296	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	83					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.247C>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	6.527	0.465439	0.12402	.	.	ENSG00000183251	ENST00000380224	T	0.00507	6.92	4.39	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.184713	0.26213	N	0.025679	T	0.00637	0.0021	M	0.78637	2.42	0.09310	N	1	P	0.50943	0.94	P	0.48304	0.573	T	0.51228	-0.8732	10	0.66056	D	0.02	.	0.8591	0.01189	0.332:0.1541:0.356:0.158	.	83	Q9Y5P0	O51B4_HUMAN	M	83	ENSP00000369573:L83M	ENSP00000369573:L83M	L	-	1	2	OR51B4	5279506	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.491000	0.06474	-0.093000	0.12396	-0.150000	0.13652	CTG		0.512	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		14	29	1	0	0.000151284	1	0.000155038	14	29				
ENDOD1	23052	broad.mit.edu	37	11	94862713	94862713	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94862713G>T	ENST00000278505.4	+	2	1591	c.1473G>T	c.(1471-1473)aaG>aaT	p.K491N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	491						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTGGCTACAAGGTTACTTTTG	0.423																																						ENST00000278505.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(1471-1473)aaG>aaT		endonuclease domain containing 1							111.0	104.0	106.0					11																	94862713		1863	4112	5975	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862713G>T	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1473G>T	11.37:g.94862713G>T	ENSP00000278505:p.Lys491Asn						p.K491N	NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN			2	1591	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	491					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.1473G>T	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820462	0.16678	.	.	ENSG00000149218	ENST00000278505	T	0.37752	1.18	5.98	4.13	0.48395	.	0.542732	0.18674	N	0.134380	T	0.32376	0.0827	L	0.56769	1.78	0.09310	N	1	B	0.34329	0.449	B	0.26094	0.066	T	0.24048	-1.0171	10	0.87932	D	0	-8.357	10.9939	0.47565	0.2063:0.0:0.7937:0.0	.	491	O94919	ENDD1_HUMAN	N	491	ENSP00000278505:K491N	ENSP00000278505:K491N	K	+	3	2	ENDOD1	94502361	0.213000	0.23551	0.336000	0.25522	0.286000	0.27126	0.363000	0.20301	0.875000	0.35847	-0.222000	0.12452	AAG		0.423	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		15	67	1	0	3.45872e-05	1	3.56558e-05	15	67				
GAS7	8522	broad.mit.edu	37	17	9823007	9823007	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9823007C>T	ENST00000432992.2	-	12	1314	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.R321H|GAS7_ENST00000437099.2_Missense_Mutation_p.R321H|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.R325H|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.R245H|GAS7_ENST00000323816.4_Missense_Mutation_p.R325H|GAS7_ENST00000579158.1_Missense_Mutation_p.R321H	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	385					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ATCCACACAGCGCATGAGGTC	0.547			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(973-975)cGc>cAc		growth arrest-specific 7							213.0	184.0	194.0					17																	9823007		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9823007C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1154G>A	17.37:g.9823007C>T	ENSP00000407552:p.Arg385His					GAS7_ENST00000542249.1_Missense_Mutation_p.R330H|GAS7_ENST00000437099.2_Missense_Mutation_p.R321H|GAS7_ENST00000580865.1_Missense_Mutation_p.R245H|GAS7_ENST00000579158.1_Missense_Mutation_p.R337H|GAS7_ENST00000585266.1_Missense_Mutation_p.R321H|GAS7_ENST00000432992.2_Missense_Mutation_p.R385H|GAS7_ENST00000323816.4_Missense_Mutation_p.R321H|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	p.R325H	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			12	1284	-			385					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.974G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805527	0.50315	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000542249;ENST00000541114	T;T	0.43688	0.94;0.98	4.91	3.92	0.45320	.	0.057731	0.64402	D	0.000001	T	0.21347	0.0514	N	0.14661	0.345	0.54753	D	0.999987	P;P;P;P	0.40250	0.709;0.653;0.591;0.653	B;B;B;B	0.29524	0.07;0.103;0.103;0.103	T	0.04333	-1.0959	9	.	.	.	-0.2767	13.4194	0.60987	0.1584:0.8416:0.0:0.0	.	337;325;245;385	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	H	385;325;324;245;325;34;199	ENSP00000322608:R385H;ENSP00000379421:R325H	.	R	-	2	0	GAS7	9763732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.876000	0.69667	1.253000	0.44018	0.655000	0.94253	CGC		0.547	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		4	78	0	0	0	1	0	4	78				
BHMT	635	broad.mit.edu	37	5	78421875	78421875	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78421875C>T	ENST00000274353.5	+	6	739	c.632C>T	c.(631-633)tCc>tTc	p.S211F	BHMT_ENST00000524080.1_Missense_Mutation_p.S58F|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	211	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S211Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ACAGGAGCATCCATCATTGGT	0.493																																						ENST00000274353.5																			1	Substitution - Missense(1)	p.S211Y(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(631-633)tCc>tTc		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						88.0	85.0	86.0					5																	78421875		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78421875C>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.632C>T	5.37:g.78421875C>T	ENSP00000274353:p.Ser211Phe					DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.S58F	p.S211F	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	6	739	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	211			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.632C>T	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097340	0.56075	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.30981	2.7;1.51	5.66	5.66	0.87406	Homocysteine S-methyltransferase (4);	0.300521	0.43416	D	0.000572	T	0.53334	0.1790	M	0.68952	2.095	0.54753	D	0.999983	D;P	0.60575	0.988;0.909	P;B	0.59357	0.856;0.419	T	0.53258	-0.8464	10	0.87932	D	0	-9.5325	20.1253	0.97977	0.0:1.0:0.0:0.0	.	58;211	E5RJH0;Q93088	.;BHMT1_HUMAN	F	211;58;58	ENSP00000274353:S211F;ENSP00000428240:S58F	ENSP00000274353:S211F	S	+	2	0	BHMT	78457631	0.991000	0.36638	0.985000	0.45067	0.290000	0.27261	4.645000	0.61404	2.832000	0.97577	0.655000	0.94253	TCC		0.493	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		18	27	0	0	0	1	0	18	27				
TRDC	28526	broad.mit.edu	37	14	22935300	22935300	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22935300C>T	ENST00000390477.2	+	0	720				TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											gaattagctccctctgagttc	0.383																																						ENST00000514473.2																			0																				74.0	78.0	77.0					14																	22935300		1859	4102	5961			0							g.chr14:22935300C>T	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22935300C>T						AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.383	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		5	58	0	0	0	1	0	5	58				
MAPKBP1	23005	broad.mit.edu	37	15	42111443	42111443	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42111443G>T	ENST00000456763.2	+	22	2505		c.e22-1		MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000457542.2_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTCGGACTCAGGCACCAGGCC	0.562																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.e21-1		mitogen-activated protein kinase binding protein 1							80.0	80.0	80.0					15																	42111443		2203	4300	6503	SO:0001630	splice_region_variant	23005							g.chr15:42111443G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2310-1G>T	15.37:g.42111443G>T						MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000456763.2_Splice_Site		NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	21	2577	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)						A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Splice_Site	SNP	ENST00000456763.2	37		CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	12.31	1.900440	0.33535	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0182	0.92902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKBP1	39898735	1.000000	0.71417	0.979000	0.43373	0.018000	0.09664	6.730000	0.74780	2.720000	0.93068	0.556000	0.70494	.		0.562	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Intron	37	26	1	0	4.07013e-28	1	4.55483e-28	37	26				
ANXA9	8416	broad.mit.edu	37	1	150960778	150960778	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150960778A>G	ENST00000368947.4	+	12	1289	c.813A>G	c.(811-813)acA>acG	p.T271T		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	271					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAGAACACACCGCTGTACT	0.502																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(811-813)acA>acG		annexin A9							164.0	151.0	155.0					1																	150960778		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150960778A>G	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.813A>G	1.37:g.150960778A>G							p.T271T	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1289	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		271					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.813A>G	CCDS975.2																																																																																				0.502	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		10	95	0	0	0	1	0	10	95				
SLC25A37	51312	broad.mit.edu	37	8	23423843	23423843	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23423843G>A	ENST00000519973.1	+	2	631	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	145					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAGCCACCTAGCCAACGGTAT	0.507																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(433-435)Gcc>Acc		solute carrier family 25 (mitochondrial iron transporter), member 37							77.0	76.0	76.0					8																	23423843		1959	4145	6104	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423843G>A	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.433G>A	8.37:g.23423843G>A	ENSP00000429200:p.Ala145Thr					SLC25A37_ENST00000517923.1_3'UTR	p.A145T	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	631	+		Prostate(55;0.114)	145					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.433G>A	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236609	0.95240	.	.	ENSG00000147454	ENST00000519973;ENST00000523930	T;T	0.79749	-1.3;-1.18	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.69142	0.877;0.962	D	0.87641	0.2522	10	0.49607	T	0.09	-2.548	18.2734	0.90076	0.0:0.0:1.0:0.0	.	145;145	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	T	145;126	ENSP00000429200:A145T;ENSP00000428066:A126T	ENSP00000290075:A145T	A	+	1	0	SLC25A37	23479788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.447000	0.97595	2.652000	0.90054	0.655000	0.94253	GCC		0.507	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		4	14	0	0	0	1	0	4	14				
GH1	2688	broad.mit.edu	37	17	61995794	61995794	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61995794G>A	ENST00000323322.5	-	2	125	c.83C>T	c.(82-84)cCa>cTa	p.P28L	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.P28L|GH1_ENST00000458650.2_Missense_Mutation_p.P28L|GH1_ENST00000342364.4_Missense_Mutation_p.P28L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	28					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGGAATGGTTGGGAAGGCACT	0.592																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19	GRCh37	CM014004	GH1	M		c.(82-84)cCa>cTa		growth hormone 1							137.0	143.0	141.0					17																	61995794		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995794G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.83C>T	17.37:g.61995794G>A	ENSP00000312673:p.Pro28Leu					GH1_ENST00000458650.2_Missense_Mutation_p.P28L|GH1_ENST00000342364.4_Missense_Mutation_p.P28L|GH1_ENST00000351388.4_Missense_Mutation_p.P28L|CSHL1_ENST00000392824.4_Intron	p.P28L	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			2	125	-			28					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.83C>T	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.618613	0.28801	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.92595	-3.07;-2.73;-3.07;-3.07	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.174545	0.50627	D	0.000101	D	0.96169	0.8751	M	0.93016	3.37	0.51012	D	0.9999	D;D;B;D;D	0.76494	0.998;0.999;0.447;0.991;0.991	D;D;B;P;P	0.79784	0.923;0.993;0.405;0.845;0.845	D	0.95860	0.8882	10	0.87932	D	0	.	9.3531	0.38151	0.0:0.0:1.0:0.0	.	28;28;28;28;28	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	L	28	ENSP00000312673:P28L;ENSP00000408486:P28L;ENSP00000343791:P28L;ENSP00000339278:P28L	ENSP00000312673:P28L	P	-	2	0	GH1	59349526	1.000000	0.71417	0.848000	0.33437	0.396000	0.30629	5.297000	0.65704	1.594000	0.50039	0.298000	0.19748	CCA		0.592	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		28	120	0	0	0	1	0	28	120				
DCHS1	8642	broad.mit.edu	37	11	6640086	6640086	+	IGR	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6640086G>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_Silent_p.T50T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCAAAGGTGAGACTCA	0.607																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(148-150)acC>acA		tripeptidyl peptidase I							79.0	72.0	75.0					11																	6640086		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640086G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640086G>T						TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	p.T50T	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	210	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	50					O15098	Silent	SNP	ENST00000299441.3	37	c.150C>A	CCDS7771.1																																																																																				0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		21	23	1	0	3.5997e-14	1	3.92294e-14	21	23				
VRK1	7443	broad.mit.edu	37	14	97322895	97322895	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:97322895C>T	ENST00000216639.3	+	10	1010	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GTTTGATGGACAAATGTTTTC	0.308																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(859-861)gaC>gaT		vaccinia related kinase 1							53.0	57.0	56.0					14																	97322895		2203	4299	6502	SO:0001819	synonymous_variant	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97322895C>T	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.861C>T	14.37:g.97322895C>T							p.D287D	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	10	1010	+		Melanoma(154;0.155)	287			Protein kinase.		Q3SYL2	Silent	SNP	ENST00000216639.3	37	c.861C>T	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787420	0.16258	.	.	ENSG00000100749	ENST00000557222;ENST00000557352	.	.	.	5.58	-0.686	0.11324	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.363	1.809	0.03087	0.4379:0.2667:0.1126:0.1828	.	.	.	.	X	144;69	.	.	Q	+	1	0	VRK1	96392648	0.892000	0.30473	0.970000	0.41538	0.886000	0.51366	-0.052000	0.11865	-0.467000	0.06932	-0.188000	0.12872	CAA		0.308	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		10	23	0	0	0	1	0	10	23				
KRT16	3868	broad.mit.edu	37	17	39768447	39768447	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39768447C>A	ENST00000301653.4	-	1	558	c.494G>T	c.(493-495)aGt>aTt	p.S165I		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	165	Linker 1.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GAAGTAGGGACTGTAGTCTTT	0.577																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(493-495)aGt>aTt		keratin 16							123.0	122.0	122.0					17																	39768447		2203	4298	6501	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768447C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.494G>T	17.37:g.39768447C>A	ENSP00000301653:p.Ser165Ile						p.S165I	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	558	-		Breast(137;0.000307)	165			Linker 1.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.494G>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091511	0.36952	.	.	ENSG00000186832	ENST00000301653	D	0.89810	-2.57	4.8	2.75	0.32379	Filament (1);	0.206167	0.34002	N	0.004355	D	0.94085	0.8104	M	0.89095	3.005	0.40075	D	0.976064	D	0.54964	0.969	P	0.59825	0.864	D	0.95183	0.8301	10	0.87932	D	0	.	15.0439	0.71813	0.0:0.5943:0.4057:0.0	.	165	P08779	K1C16_HUMAN	I	165	ENSP00000301653:S165I	ENSP00000301653:S165I	S	-	2	0	KRT16	37021973	0.400000	0.25295	1.000000	0.80357	0.120000	0.20174	0.814000	0.27239	0.701000	0.31803	0.561000	0.74099	AGT		0.577	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		23	57	1	0	3.57733e-08	1	3.76749e-08	23	57				
SMOC1	64093	broad.mit.edu	37	14	70477533	70477533	+	Missense_Mutation	SNP	C	C	T	rs369126124		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70477533C>T	ENST00000381280.4	+	8	980	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R243C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	243	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCAGAATCCCCGTGAGGGTAT	0.562																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(727-729)Cgt>Tgt		SPARC related modular calcium binding 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	112.0	118.0	116.0		727,727	4.6	0.9	14		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMOC1	NM_001034852.2,NM_022137.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	243/436,243/435	70477533	1,13005	2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477533C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.727C>T	14.37:g.70477533C>T	ENSP00000370680:p.Arg243Cys					SMOC1_ENST00000361956.3_Missense_Mutation_p.R243C	p.R243C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	980	+			243			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.727C>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633910	0.47049	0.0	1.16E-4	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.64085	-0.08;-0.08	5.47	4.56	0.56223	Thyroglobulin type-1 (3);	0.112937	0.64402	D	0.000007	T	0.75627	0.3875	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.928	T	0.77627	-0.2517	10	0.56958	D	0.05	-12.2477	13.4905	0.61393	0.2845:0.7154:0.0:0.0	.	243;243	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	243	ENSP00000355110:R243C;ENSP00000370680:R243C	ENSP00000355110:R243C	R	+	1	0	SMOC1	69547286	0.980000	0.34600	0.883000	0.34634	0.184000	0.23303	2.398000	0.44486	1.401000	0.46761	0.557000	0.71058	CGT		0.562	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			17	23	0	0	0	1	0	17	23				
PPP1R3A	5506	broad.mit.edu	37	7	113519717	113519717	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:113519717A>G	ENST00000284601.3	-	4	1498	c.1430T>C	c.(1429-1431)aTt>aCt	p.I477T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	477					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTACTTCAATATTTTTAGC	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1429-1431)aTt>aCt		protein phosphatase 1, regulatory subunit 3A							53.0	53.0	53.0					7																	113519717		2203	4298	6501	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519717A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1430T>C	7.37:g.113519717A>G	ENSP00000284601:p.Ile477Thr						p.I477T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1498	-			477					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1430T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	1.997	-0.430279	0.04701	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35048	2.32;1.33	5.49	-4.64	0.03349	.	0.977301	0.08381	N	0.954547	T	0.22003	0.0530	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23368	-1.0190	10	0.31617	T	0.26	-1.3991	6.2737	0.20969	0.3824:0.2535:0.3641:0.0	.	477	Q16821	PPR3A_HUMAN	T	477;156	ENSP00000284601:I477T;ENSP00000401278:I156T	ENSP00000284601:I477T	I	-	2	0	PPP1R3A	113306953	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-1.027000	0.03325	-0.899000	0.02877	ATT		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		33	45	0	0	0	1	0	33	45				
TTLL10	254173	broad.mit.edu	37	1	1118412	1118412	+	Missense_Mutation	SNP	C	C	T	rs569439420	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1118412C>T	ENST00000379290.1	+	11	1246	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	TTLL10_ENST00000379289.1_Missense_Mutation_p.A358V|TTLL10_ENST00000379288.3_Missense_Mutation_p.A285V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	358	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199)		GGGCCTCAGGCGCGGGTGGTG	0.726													c|||	4	0.000798722	0.0	0.0	5008	,	,		12856	0.0		0.0	False		,,,				2504	0.0041					ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(1072-1074)gCg>gTg		tubulin tyrosine ligase-like family, member 10							16.0	15.0	15.0					1																	1118412		2186	4293	6479	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1118412C>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1073C>T	1.37:g.1118412C>T	ENSP00000368592:p.Ala358Val					TTLL10_ENST00000379288.3_Missense_Mutation_p.A285V|TTLL10_ENST00000379289.1_Missense_Mutation_p.A358V	p.A358V			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199)	11	1246	+	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)	358			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.1073C>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242002	0.58995	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.05580	3.42;3.42;3.42	3.9	3.9	0.45041	.	0.836237	0.10177	U	0.706377	T	0.16811	0.0404	M	0.66378	2.025	0.41370	D	0.987485	D;D	0.65815	0.994;0.995	P;P	0.55455	0.752;0.776	T	0.02437	-1.1159	10	0.33141	T	0.24	.	11.2456	0.48996	0.0:1.0:0.0:0.0	.	285;358	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	V	358;358;285	ENSP00000368592:A358V;ENSP00000368591:A358V;ENSP00000368590:A285V	ENSP00000368590:A285V	A	+	2	0	TTLL10	1108275	1.000000	0.71417	0.989000	0.46669	0.111000	0.19643	5.094000	0.64523	2.004000	0.58718	0.486000	0.48141	GCG		0.726	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		9	11	0	0	0	1	0	9	11				
GALNT10	55568	broad.mit.edu	37	5	153709146	153709146	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153709146G>A	ENST00000297107.6	+	4	553	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R139H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R139H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	139					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.R139H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AACAGCAAGCGCTACCTGGAG	0.577																																						ENST00000297107.6																			1	Substitution - Missense(1)	p.R139H(1)	large_intestine(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(415-417)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							163.0	123.0	137.0					5																	153709146		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153709146G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.416G>A	5.37:g.153709146G>A	ENSP00000297107:p.Arg139His					GALNT10_ENST00000425427.2_Missense_Mutation_p.R139H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R139H|SAP30L-AS1_ENST00000519727.1_RNA	p.R139H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	553	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	139					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.416G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963195	0.53507	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.27;0.27;0.27	5.28	2.08	0.27032	.	2.769860	0.00906	N	0.002404	T	0.38692	0.1050	N	0.11845	0.185	0.80722	D	1	P;P;P	0.50369	0.572;0.763;0.934	B;B;B	0.36959	0.231;0.076;0.237	T	0.31779	-0.9931	10	0.46703	T	0.11	.	7.1293	0.25490	0.0943:0.0:0.3079:0.5979	.	139;139;139	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	139	ENSP00000415210:R139H;ENSP00000297107:R139H;ENSP00000366889:R139H	ENSP00000297107:R139H	R	+	2	0	GALNT10	153689339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.988000	0.40697	0.566000	0.29273	0.655000	0.94253	CGC		0.577	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		4	35	0	0	0	1	0	4	35				
TMEM115	11070	broad.mit.edu	37	3	50395884	50395884	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50395884T>C	ENST00000266025.3	-	1	1157	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	204					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAGCGAAGATATACCCAACT	0.632																																						ENST00000266025.3																			0				breast(2)|endometrium(1)|lung(1)|prostate(1)	5						c.(610-612)tAt>tGt		transmembrane protein 115							47.0	51.0	50.0					3																	50395884		2203	4300	6503	SO:0001583	missense	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50395884T>C	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.611A>G	3.37:g.50395884T>C	ENSP00000266025:p.Tyr204Cys					XXcos-LUCA11.5_ENST00000606589.1_Intron	p.Y204C	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1157	-			204					A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	37	c.611A>G	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639690	0.87760	.	.	ENSG00000126062	ENST00000266025	T	0.12774	2.65	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50676	-0.8800	10	0.87932	D	0	-16.8177	15.0972	0.72244	0.0:0.0:0.0:1.0	.	204	Q12893	TM115_HUMAN	C	204	ENSP00000266025:Y204C	ENSP00000266025:Y204C	Y	-	2	0	TMEM115	50370888	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.784000	0.85713	2.200000	0.70718	0.460000	0.39030	TAT		0.632	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		9	19	0	0	0	1	0	9	19				
ECD	11319	broad.mit.edu	37	10	74914063	74914063	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74914063G>A	ENST00000372979.4	-	6	940	c.734C>T	c.(733-735)gCt>gTt	p.A245V	ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_Missense_Mutation_p.A245V|ECD_ENST00000430082.2_Missense_Mutation_p.A245V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	245					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AACACGACAAGCTCGCAGGTC	0.473																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(733-735)gCt>gTt		ecdysoneless homolog (Drosophila)							73.0	68.0	70.0					10																	74914063		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74914063G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.734C>T	10.37:g.74914063G>A	ENSP00000362070:p.Ala245Val					ECD_ENST00000454759.1_Missense_Mutation_p.A245V|ECD_ENST00000430082.1_Missense_Mutation_p.A245V	p.A245V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			6	940	-	Prostate(51;0.0119)		245					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.734C>T	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968125	0.74131	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.2	5.2	0.72013	.	0.102234	0.64402	D	0.000002	T	0.37376	0.1001	L	0.61036	1.89	0.80722	D	1	D;P;P	0.53619	0.961;0.619;0.871	P;B;P	0.56163	0.793;0.442;0.793	T	0.03524	-1.1028	10	0.30854	T	0.27	-10.6911	16.2256	0.82288	0.0:0.0:1.0:0.0	.	245;245;245	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	V	245;245;245;171	ENSP00000362070:A245V;ENSP00000401566:A245V;ENSP00000395786:A245V;ENSP00000391367:A171V	ENSP00000362070:A245V	A	-	2	0	ECD	74584069	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.420000	0.80191	2.404000	0.81709	0.650000	0.86243	GCT		0.473	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		4	35	0	0	0	1	0	4	35				
HIPK2	28996	broad.mit.edu	37	7	139258061	139258061	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139258061G>A	ENST00000406875.3	-	15	3303	c.3209C>T	c.(3208-3210)cCg>cTg	p.P1070L	HIPK2_ENST00000428878.2_Missense_Mutation_p.P1043L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGGAGTACGGAGCCTGGGC	0.687																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3208-3210)cCg>cTg		homeodomain interacting protein kinase 2							86.0	106.0	100.0					7																	139258061		2180	4278	6458	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139258061G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3209C>T	7.37:g.139258061G>A	ENSP00000385571:p.Pro1070Leu					HIPK2_ENST00000428878.2_Missense_Mutation_p.P1043L	p.P1070L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3303	-	Melanoma(164;0.205)		1070			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3209C>T		.	.	.	.	.	.	.	.	.	.	G	15.13	2.743449	0.49151	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.55052	0.54;0.56	4.86	4.86	0.63082	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	P;P	0.47106	0.824;0.89	B;B	0.35312	0.098;0.2	T	0.57940	-0.7724	8	0.87932	D	0	.	18.1688	0.89737	0.0:0.0:1.0:0.0	.	1070;1043	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	1070;1043	ENSP00000385571:P1070L;ENSP00000413724:P1043L	ENSP00000385571:P1070L	P	-	2	0	HIPK2	138908601	1.000000	0.71417	0.560000	0.28344	0.880000	0.50808	6.954000	0.76001	2.532000	0.85374	0.655000	0.94253	CCG		0.687	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		23	53	0	0	0	1	0	23	53				
KLHDC7B	113730	broad.mit.edu	37	22	50987555	50987555	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50987555G>A	ENST00000395676.2	+	1	1094	c.960G>A	c.(958-960)gcG>gcA	p.A320A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	320										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)		CTCTACCTGCGCACCTGCATG	0.716																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(958-960)gcG>gcA		kelch domain containing 7B							28.0	36.0	34.0					22																	50987555		1996	4003	5999	SO:0001819	synonymous_variant	113730							g.chr22:50987555G>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.960G>A	22.37:g.50987555G>A							p.A320A	NM_138433.3	NP_612442.2	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	1094	+		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)	320						Silent	SNP	ENST00000395676.2	37	c.960G>A	CCDS14097.2																																																																																				0.716	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		33	55	0	0	0	1	0	33	55				
ZNF813	126017	broad.mit.edu	37	19	53987091	53987091	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53987091G>T	ENST00000396403.4	+	2	143	c.15G>T	c.(13-15)caG>caT	p.Q5H	ZNF813_ENST00000396421.4_Splice_Site_p.Q5H	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTCTTCCTCAGGTGAGATGAT	0.463																																						ENST00000396403.4																			0				large_intestine(1)	1						c.e2+1		zinc finger protein 813							117.0	98.0	105.0					19																	53987091		1511	2709	4220	SO:0001630	splice_region_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53987091G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.15+1G>T	19.37:g.53987091G>T						ZNF813_ENST00000396421.4_Splice_Site_p.Q5_splice	p.Q5_splice	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	2	143	+			5						Splice_Site	SNP	ENST00000396403.4	37	c.15_splice	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396734	0.25205	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	T;T;T	0.01059	5.39;5.39;5.39	0.74	0.74	0.18330	Krueppel-associated box (1);	.	.	.	.	T	0.04724	0.0128	M	0.74389	2.26	0.35386	D	0.79036	D	0.71674	0.998	D	0.63877	0.919	T	0.38373	-0.9664	8	0.87932	D	0	.	.	.	.	.	5	Q6ZN06	ZN813_HUMAN	H	5	ENSP00000379684:Q5H;ENSP00000418289:Q5H;ENSP00000379699:Q5H	ENSP00000379684:Q5H	Q	+	3	2	ZNF813	58678903	0.007000	0.16637	0.014000	0.15608	0.079000	0.17450	0.818000	0.27295	0.659000	0.30945	0.195000	0.17529	CAG		0.463	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	Missense_Mutation	8	21	1	0	5.50884e-06	1	5.70893e-06	8	21				
CD109	135228	broad.mit.edu	37	6	74519715	74519715	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74519715C>G	ENST00000287097.5	+	27	3476	c.3364C>G	c.(3364-3366)Caa>Gaa	p.Q1122E	CD109_ENST00000437994.2_Missense_Mutation_p.Q1122E|CD109_ENST00000422508.2_Missense_Mutation_p.Q1045E			Q6YHK3	CD109_HUMAN	CD109 molecule	1122					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGTGGCATGCAATTCTGGGT	0.408																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3364-3366)Caa>Gaa		CD109 molecule							62.0	59.0	60.0					6																	74519715		2203	4298	6501	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74519715C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3364C>G	6.37:g.74519715C>G	ENSP00000287097:p.Gln1122Glu					CD109_ENST00000287097.5_Missense_Mutation_p.Q1122E|CD109_ENST00000422508.2_Missense_Mutation_p.Q1045E	p.Q1122E	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			27	3795	+			1122					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3364C>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	6.379	0.437951	0.12104	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.36520	1.25;1.25;1.25	5.16	5.16	0.70880	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.406312	0.27778	N	0.017900	T	0.09468	0.0233	L	0.27053	0.805	0.09310	N	1	B;B;B	0.30824	0.296;0.027;0.006	B;B;B	0.26416	0.069;0.008;0.007	T	0.11743	-1.0575	10	0.09590	T	0.72	.	12.5863	0.56419	0.2846:0.7154:0.0:0.0	.	1045;1122;1122	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	E	1122;1045;1122	ENSP00000388062:Q1122E;ENSP00000404475:Q1045E;ENSP00000287097:Q1122E	ENSP00000287097:Q1122E	Q	+	1	0	CD109	74576436	0.009000	0.17119	0.091000	0.20842	0.568000	0.35870	1.767000	0.38501	2.675000	0.91044	0.563000	0.77884	CAA		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		3	33	0	0	0	1	0	3	33				
ARSG	22901	broad.mit.edu	37	17	66364738	66364738	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66364738G>A	ENST00000448504.2	+	7	1550	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.V88M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	252					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACATGCACGTGCCCTTACC	0.602																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(754-756)Gtg>Atg		arylsulfatase G							91.0	88.0	89.0					17																	66364738		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66364738G>A	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.754G>A	17.37:g.66364738G>A	ENSP00000407193:p.Val252Met					ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.V88M	p.V252M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1550	+			252					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.754G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896486	0.72639	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.85041	2.73	0.50813	D	0.999898	D	0.76494	0.999	D	0.65874	0.939	D	0.84390	0.0554	9	0.52906	T	0.07	.	17.8151	0.88630	0.0:0.0:1.0:0.0	.	252	Q96EG1	ARSG_HUMAN	M	252;151	.	ENSP00000407193:V151M	V	+	1	0	ARSG	63876333	1.000000	0.71417	0.997000	0.53966	0.584000	0.36387	6.848000	0.75409	2.733000	0.93635	0.655000	0.94253	GTG		0.602	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		30	34	0	0	0	1	0	30	34				
GRB14	2888	broad.mit.edu	37	2	165404231	165404231	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165404231C>A	ENST00000263915.3	-	3	958	c.420G>T	c.(418-420)aaG>aaT	p.K140N	GRB14_ENST00000543549.1_Missense_Mutation_p.K53N	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	140	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTAATGATTCTTCAGGATCA	0.438																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(418-420)aaG>aaT		growth factor receptor-bound protein 14							98.0	89.0	92.0					2																	165404231		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404231C>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.420G>T	2.37:g.165404231C>A	ENSP00000263915:p.Lys140Asn					GRB14_ENST00000543549.1_Missense_Mutation_p.K53N	p.K140N	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			3	958	-			140			Ras-associating.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.420G>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748324	0.49257	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.1	4.22	0.49857	Ras-association (3);	0.048974	0.85682	D	0.000000	T	0.60170	0.2248	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.69824	0.966;0.933	T	0.69397	-0.5156	10	0.87932	D	0	-7.8438	13.8234	0.63336	0.0:0.926:0.0:0.074	.	53;140	B7Z7F9;Q14449	.;GRB14_HUMAN	N	140;53;95;82	ENSP00000263915:K140N;ENSP00000443699:K53N;ENSP00000416786:K95N;ENSP00000401702:K82N	ENSP00000263915:K140N	K	-	3	2	GRB14	165112477	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.790000	0.62453	1.284000	0.44531	-0.136000	0.14681	AAG		0.438	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			16	53	1	0	1.99824e-07	1	2.09433e-07	16	53				
ARVCF	421	broad.mit.edu	37	22	19969197	19969197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19969197C>A	ENST00000263207.3	-	5	724	c.433G>T	c.(433-435)Gga>Tga	p.G145*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.G145*|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	145					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGGGGGAGTCCATCTGGGCCC	0.642																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(433-435)Gga>Tga		armadillo repeat gene deleted in velocardiofacial syndrome							38.0	46.0	43.0					22																	19969197		2190	4261	6451	SO:0001587	stop_gained	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969197C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.433G>T	22.37:g.19969197C>A	ENSP00000263207:p.Gly145*					ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.G82*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.G145*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.G82*	p.G145*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	724	-	Colorectal(54;0.0993)		145					B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	37	c.433G>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	37	6.554885	0.97658	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.43	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.993	10.872	0.46889	0.0:0.8446:0.0:0.1554	.	.	.	.	X	145;82;82;82;145	.	.	G	-	1	0	ARVCF	18349197	1.000000	0.71417	0.980000	0.43619	0.860000	0.49131	5.601000	0.67606	0.608000	0.30000	0.551000	0.68910	GGA		0.642	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		19	36	1	0	5.35356e-11	1	5.74024e-11	19	36				
CD1B	910	broad.mit.edu	37	1	158301201	158301201	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158301201G>A	ENST00000368168.3	-	1	120	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	5					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGTTGAAATGGCAGCAGCAGC	0.468																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(13-15)Cca>Tca		CD1b molecule							74.0	67.0	69.0					1																	158301201		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158301201G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.13C>T	1.37:g.158301201G>A	ENSP00000357150:p.Pro5Ser						p.P5S	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			1	120	-	all_hematologic(112;0.0378)		5					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.13C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856745	0.32791	.	.	ENSG00000158485	ENST00000368168	T	0.01272	5.07	3.14	0.0583	0.14327	.	1.570510	0.04529	N	0.386086	T	0.00845	0.0028	M	0.70275	2.135	0.09310	N	1	P;B	0.39883	0.693;0.01	B;B	0.39258	0.295;0.005	T	0.42531	-0.9446	10	0.56958	D	0.05	4.2423	3.5154	0.07723	0.247:0.2135:0.5395:0.0	.	5;5	B4E0D2;P29016	.;CD1B_HUMAN	S	5	ENSP00000357150:P5S	ENSP00000357150:P5S	P	-	1	0	CD1B	156567825	0.000000	0.05858	0.005000	0.12908	0.670000	0.39368	-0.320000	0.08028	0.017000	0.15025	0.650000	0.86243	CCA		0.468	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		9	22	0	0	0	1	0	9	22				
CD163L1	283316	broad.mit.edu	37	12	7526122	7526122	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7526122G>A	ENST00000313599.3	-	14	3581	c.3524C>T	c.(3523-3525)gCc>gTc	p.A1175V	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1185V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1175V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1175	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCTATGGCTGTGGTGAT	0.547																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3523-3525)gCc>gTc		CD163 molecule-like 1							155.0	145.0	148.0					12																	7526122		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526122G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3524C>T	12.37:g.7526122G>A	ENSP00000315945:p.Ala1175Val					CD163L1_ENST00000416109.2_Missense_Mutation_p.A1185V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1175V	p.A1175V			Q9NR16	C163B_HUMAN			14	3581	-			1175			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3524C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.392666	0.01185	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35789	1.29;1.29;1.29	2.28	-2.21	0.06973	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.231910	0.04001	N	0.296502	T	0.19685	0.0473	N	0.13140	0.3	0.09310	N	1	B;B	0.19073	0.033;0.015	B;B	0.20577	0.017;0.03	T	0.12553	-1.0543	10	0.27082	T	0.32	.	3.7107	0.08418	0.3477:0.0:0.4806:0.1717	.	1185;1175	E7EVK4;Q9NR16	.;C163B_HUMAN	V	1175;1185;1175	ENSP00000315945:A1175V;ENSP00000393474:A1185V;ENSP00000379871:A1175V	ENSP00000315945:A1175V	A	-	2	0	CD163L1	7417389	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.410000	0.01040	-0.609000	0.05724	-0.319000	0.08680	GCC		0.547	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		58	82	0	0	0	1	0	58	82				
FSD1	79187	broad.mit.edu	37	19	4323367	4323367	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4323367C>T	ENST00000221856.6	+	12	1461	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Missense_Mutation_p.P408L	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTACAATGCCCGCACCAAAC	0.652																																						ENST00000597590.1																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1222-1224)cCc>cTc		fibronectin type III and SPRY domain containing 1							61.0	56.0	58.0					19																	4323367		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4323367C>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1314C>T	19.37:g.4323367C>T						FSD1_ENST00000221856.6_Silent_p.A438A	p.P408L			Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1294	+			406			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.1223C>T	CCDS12127.1																																																																																				0.652	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		11	18	0	0	0	1	0	11	18				
CELA2B	51032	broad.mit.edu	37	1	15813853	15813853	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15813853C>T	ENST00000375910.3	+	7	738	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCTCACGTCGGTCCTT	0.587																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(712-714)aCg>aTg		chymotrypsin-like elastase family, member 2B							123.0	117.0	119.0					1																	15813853		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813853C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.713C>T	1.37:g.15813853C>T	ENSP00000365075:p.Thr238Met						p.T238M	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			7	738	+			238			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.713C>T	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304098	0.23736	.	.	ENSG00000215704	ENST00000375910	D	0.93019	-3.15	4.77	2.85	0.33270	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.206170	0.32328	U	0.006251	D	0.90459	0.7012	L	0.38175	1.15	0.09310	N	0.999998	P	0.42735	0.788	P	0.46940	0.532	D	0.83486	0.0067	10	0.56958	D	0.05	.	9.4838	0.38917	0.0:0.188:0.6703:0.1417	.	238	P08218	CEL2B_HUMAN	M	238	ENSP00000365075:T238M	ENSP00000365075:T238M	T	+	2	0	CELA2B	15686440	1.000000	0.71417	0.122000	0.21767	0.002000	0.02628	1.518000	0.35877	0.490000	0.27771	-0.241000	0.12123	ACG		0.587	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		42	31	0	0	0	1	0	42	31				
TRIOBP	11078	broad.mit.edu	37	22	38119611	38119611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38119611C>T	ENST00000406386.3	+	7	1303	c.1048C>T	c.(1048-1050)Caa>Taa	p.Q350*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	350					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACGAAGCACCCAACTGGATAA	0.577																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1048-1050)Caa>Taa		TRIO and F-actin binding protein							132.0	146.0	141.0					22																	38119611		1910	4113	6023	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119611C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1048C>T	22.37:g.38119611C>T	ENSP00000384312:p.Gln350*					RP1-37E16.12_ENST00000455236.1_RNA	p.Q350*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1303	+	Melanoma(58;0.0574)		350					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.1048C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012512	0.93346	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.83	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.29058	N	0.884102	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.7915	0.46436	0.0:0.9058:0.0:0.0942	.	.	.	.	X	350	.	ENSP00000384312:Q350X	Q	+	1	0	TRIOBP	36449557	0.150000	0.22732	0.004000	0.12327	0.029000	0.11900	2.839000	0.48207	1.047000	0.40274	0.456000	0.33151	CAA		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			21	81	0	0	0	1	0	21	81				
KNCN	148930	broad.mit.edu	37	1	47016750	47016750	+	Silent	SNP	G	G	A	rs376527773		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47016750G>A	ENST00000481882.2	-	1	449	c.138C>T	c.(136-138)ggC>ggT	p.G46G	KNCN_ENST00000396314.3_Silent_p.G46G|KNCN_ENST00000524908.1_5'Flank|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	46						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GAACAGCAGCGCCAATAAAGA	0.622																																						ENST00000481882.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(136-138)ggC>ggT		kinocilin							64.0	74.0	70.0					1																	47016750		2042	4202	6244	SO:0001819	synonymous_variant	148930					integral to membrane		g.chr1:47016750G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.138C>T	1.37:g.47016750G>A						KNCN_ENST00000396314.3_Silent_p.G46G|MKNK1-AS1_ENST00000602433.1_RNA	p.G46G			A6PVL3	KNCN_HUMAN			1	449	-	Acute lymphoblastic leukemia(166;0.155)		46					A8MXE3	Silent	SNP	ENST00000481882.2	37	c.138C>T																																																																																					0.622	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		24	35	0	0	0	1	0	24	35				
USH2A	7399	broad.mit.edu	37	1	216074111	216074111	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216074111G>A	ENST00000307340.3	-	39	7823	c.7437C>T	c.(7435-7437)acC>acT	p.T2479T	USH2A_ENST00000366943.2_Silent_p.T2479T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2479	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAATCCATGGGTGGAGTCGC	0.458										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7435-7437)acC>acT		Usher syndrome 2A (autosomal recessive, mild)							82.0	84.0	83.0					1																	216074111		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216074111G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7437C>T	1.37:g.216074111G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T2479T|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2479T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7823	-			2479			Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7437C>T	CCDS31025.1																																																																																				0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	46	0	0	0	1	0	32	46				
KDR	3791	broad.mit.edu	37	4	55964923	55964923	+	Missense_Mutation	SNP	C	C	T	rs1062832		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55964923C>T	ENST00000263923.4	-	16	2609	c.2314G>A	c.(2314-2316)Gcg>Acg	p.A772T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	772				A -> T (in Ref. 7; AAA59459/CAA43837). {ECO:0000305}.	angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAATCACCGCCGTGCCTACT	0.413			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2314-2316)Gcg>Acg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						112.0	113.0	113.0					4																	55964923		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964923C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2314G>A	4.37:g.55964923C>T	ENSP00000263923:p.Ala772Thr	TSP Lung(20;0.16)					p.A772T	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2609	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		772	A -> T (in Ref. 4; AAA59459/CAA43837).				A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2314G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533097	0.64972	.	.	ENSG00000128052	ENST00000263923	T	0.78595	-1.19	5.97	5.97	0.96955	.	0.116782	0.64402	D	0.000018	T	0.76040	0.3932	L	0.29908	0.895	0.54753	D	0.999981	D	0.59357	0.985	P	0.48654	0.585	T	0.75510	-0.3292	10	0.42905	T	0.14	.	20.4062	0.99009	0.0:1.0:0.0:0.0	rs1062832;rs3203821;rs1062832	772	P35968	VGFR2_HUMAN	T	772	ENSP00000263923:A772T	ENSP00000263923:A772T	A	-	1	0	KDR	55659680	1.000000	0.71417	0.235000	0.24058	0.045000	0.14185	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GCG		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			25	46	0	0	0	1	0	25	46				
SOS1	6654	broad.mit.edu	37	2	39250102	39250102	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39250102A>G	ENST00000426016.1	-	11	1553	c.1467T>C	c.(1465-1467)cgT>cgC	p.R489R	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Silent_p.R489R|SOS1_ENST00000402219.2_Silent_p.R489R			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	489	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTCTTTAAGACGATATTCTG	0.318									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1465-1467)cgT>cgC		son of sevenless homolog 1 (Drosophila)							82.0	82.0	82.0					2																	39250102		2203	4300	6503	SO:0001819	synonymous_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250102A>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1467T>C	2.37:g.39250102A>G						SOS1_ENST00000395038.2_Silent_p.R489R|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Silent_p.R489R	p.R489R			Q07889	SOS1_HUMAN			11	1553	-		all_hematologic(82;0.21)	489			PH.		A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	c.1467T>C	CCDS1802.1																																																																																				0.318	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		15	50	0	0	0	1	0	15	50				
GFI1B	8328	broad.mit.edu	37	9	135863747	135863747	+	Silent	SNP	C	C	T	rs377198808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135863747C>T	ENST00000339463.3	+	8	1221	c.402C>T	c.(400-402)tcC>tcT	p.S134S	GFI1B_ENST00000372124.1_Silent_p.S134S|GFI1B_ENST00000372122.1_Silent_p.S134S|GFI1B_ENST00000534944.1_Silent_p.S134S|GFI1B_ENST00000372123.1_Silent_p.S134S|GFI1B_ENST00000450530.1_Silent_p.S134S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	134	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TGGAGCACTCCGTCAGCCTGT	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15339	0.0		0.0	False		,,,				2504	0.0					ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(400-402)tcC>tcT		growth factor independent 1B transcription repressor		C	,	0,4406		0,0,2203	78.0	60.0	66.0		402,402	-9.1	0.8	9		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GFI1B	NM_001135031.1,NM_004188.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	134/285,134/331	135863747	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863747C>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.402C>T	9.37:g.135863747C>T						GFI1B_ENST00000372124.1_Silent_p.S134S|GFI1B_ENST00000372123.1_Silent_p.S134S|GFI1B_ENST00000534944.1_Silent_p.S134S|GFI1B_ENST00000372122.1_Silent_p.S134S|GFI1B_ENST00000450530.1_Silent_p.S134S	p.S134S			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1221	+			134			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.402C>T	CCDS6957.1																																																																																				0.612	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		14	23	0	0	0	1	0	14	23				
ZNF536	9745	broad.mit.edu	37	19	30936384	30936384	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30936384G>A	ENST00000355537.3	+	2	2062	c.1915G>A	c.(1915-1917)Gtg>Atg	p.V639M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	639					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCGGCCGGGTGTTCCGCAC	0.632																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1915-1917)Gtg>Atg		zinc finger protein 536							81.0	92.0	88.0					19																	30936384		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936384G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1915G>A	19.37:g.30936384G>A	ENSP00000347730:p.Val639Met						p.V639M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2062	+	Esophageal squamous(110;0.0834)		639					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1915G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926589	0.52759	.	.	ENSG00000198597	ENST00000355537	T	0.53206	0.63	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.119454	0.56097	D	0.000030	T	0.59183	0.2175	L	0.31157	0.91	0.42513	D	0.992974	D;D	0.69078	0.997;0.997	D;D	0.68621	0.959;0.959	T	0.59899	-0.7367	10	0.52906	T	0.07	-36.3686	19.796	0.96484	0.0:0.0:1.0:0.0	.	639;639	A7E228;O15090	.;ZN536_HUMAN	M	639	ENSP00000347730:V639M	ENSP00000347730:V639M	V	+	1	0	ZNF536	35628224	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.334000	0.72944	2.659000	0.90383	0.655000	0.94253	GTG		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		44	51	0	0	0	1	0	44	51				
OTOP1	133060	broad.mit.edu	37	4	4228245	4228245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4228245G>A	ENST00000296358.4	-	1	371	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	116					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGCGGTGCGCGGAGCTGCG	0.731																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(346-348)gCg>gTg		otopetrin 1							5.0	6.0	5.0					4																	4228245		1837	3738	5575	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228245G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.347C>T	4.37:g.4228245G>A	ENSP00000296358:p.Ala116Val						p.A116V	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	371	-			116					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.347C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231312	0.39399	.	.	ENSG00000163982	ENST00000296358	T	0.08634	3.07	3.4	2.53	0.30540	.	0.591231	0.15627	U	0.252618	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.37150	-0.9718	10	0.52906	T	0.07	.	9.6422	0.39846	0.107:0.0:0.893:0.0	.	116	Q7RTM1	OTOP1_HUMAN	V	116	ENSP00000296358:A116V	ENSP00000296358:A116V	A	-	2	0	OTOP1	4279146	0.999000	0.42202	0.995000	0.50966	0.917000	0.54804	2.919000	0.48836	0.608000	0.30000	0.430000	0.28490	GCG		0.731	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		11	9	0	0	0	1	0	11	9				
TTLL6	284076	broad.mit.edu	37	17	46871632	46871632	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46871632C>T	ENST00000433608.2	-	1	64	c.11G>A	c.(10-12)gGc>gAc	p.G4D	TTLL6_ENST00000393382.3_Intron	NM_173623.3	NP_775894.2			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTTGGGGTGCCAATTCTCAT	0.522																																						ENST00000433608.2																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(10-12)gGc>gAc		tubulin tyrosine ligase-like family, member 6							107.0	96.0	99.0					17																	46871632		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46871632C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000433608.2:c.11G>A	17.37:g.46871632C>T	ENSP00000399211:p.Gly4Asp					TTLL6_ENST00000393382.3_Intron	p.G4D	NM_173623.3	NP_775894.2	Q8N841	TTLL6_HUMAN			1	64	-			0						Missense_Mutation	SNP	ENST00000433608.2	37	c.11G>A	CCDS11537.2	.	.	.	.	.	.	.	.	.	.	C	5.889	0.348104	0.11126	.	.	ENSG00000170703	ENST00000305326	.	.	.	1.97	-0.824	0.10812	.	.	.	.	.	T	0.28267	0.0698	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	8	0.56958	D	0.05	.	4.449	0.11611	0.0:0.3815:0.0:0.6185	.	4	G5E937	.	D	4	.	ENSP00000302547:G4D	G	-	2	0	TTLL6	44226631	0.014000	0.17966	0.002000	0.10522	0.365000	0.29674	0.407000	0.21049	-0.168000	0.10853	-0.459000	0.05422	GGC		0.522	TTLL6-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346937.3	NM_173623		4	15	0	0	0	1	0	4	15				
UGGT1	56886	broad.mit.edu	37	2	128944261	128944261	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128944261T>C	ENST00000259253.6	+	39	4411	c.4364T>C	c.(4363-4365)cTg>cCg	p.L1455P	UGGT1_ENST00000375990.3_Missense_Mutation_p.L1431P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1455	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAACAGGATCTGCCCAATAAC	0.363																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4291-4293)cTg>cCg		UDP-glucose glycoprotein glucosyltransferase 1							138.0	119.0	126.0					2																	128944261		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128944261T>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4364T>C	2.37:g.128944261T>C	ENSP00000259253:p.Leu1455Pro					UGGT1_ENST00000259253.6_Missense_Mutation_p.L1455P	p.L1431P			Q9NYU2	UGGG1_HUMAN			39	4695	+			1455			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4292T>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234785	0.79800	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.32988	1.43;1.43	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.69459	0.3113	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81040	-0.1113	9	.	.	.	.	15.566	0.76294	0.0:0.0:0.0:1.0	.	1455	Q9NYU2	UGGG1_HUMAN	P	1431;1455	ENSP00000365158:L1431P;ENSP00000259253:L1455P	.	L	+	2	0	UGGT1	128660731	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.448000	0.80631	2.254000	0.74563	0.533000	0.62120	CTG		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		42	48	0	0	0	1	0	42	48				
SNX21	90203	broad.mit.edu	37	20	44469548	44469548	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44469548G>A	ENST00000491381.1	+	4	786	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000372542.1_Missense_Mutation_p.V231M|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	240	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GGACTTCTTCGTGCTGCCGGA	0.647																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(691-693)Gtg>Atg		sorting nexin family member 21							26.0	29.0	28.0					20																	44469548		2202	4294	6496	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469548G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.718G>A	20.37:g.44469548G>A	ENSP00000418593:p.Val240Met					SNX21_ENST00000491381.1_Missense_Mutation_p.V240M|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR	p.V231M			Q969T3	SNX21_HUMAN			3	1003	+		Myeloproliferative disorder(115;0.0122)	240			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.691G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986943	0.53934	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.64260	-0.09;-0.09	4.32	2.2	0.27929	Phox homologous domain (4);	0.213089	0.40554	N	0.001073	T	0.31040	0.0784	N	0.02539	-0.55	0.80722	D	1	P;P	0.50156	0.932;0.932	B;B	0.43867	0.434;0.434	T	0.06972	-1.0797	10	0.35671	T	0.21	-17.1691	3.255	0.06828	0.2241:0.0:0.4442:0.3317	.	231;240	Q5JZH3;Q969T3	.;SNX21_HUMAN	M	240;231	ENSP00000418593:V240M;ENSP00000361620:V231M	ENSP00000361620:V231M	V	+	1	0	SNX21	43902955	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	1.768000	0.38511	1.048000	0.40298	0.462000	0.41574	GTG		0.647	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		22	32	0	0	0	1	0	22	32				
C8A	731	broad.mit.edu	37	1	57372341	57372341	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57372341T>C	ENST00000361249.3	+	8	1194	c.1098T>C	c.(1096-1098)ggT>ggC	p.G366G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	366	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGTTGCAGGTATTACCAGCA	0.398																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e8-1		complement component 8, alpha polypeptide							142.0	140.0	141.0					1																	57372341		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57372341T>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1097-1T>C	1.37:g.57372341T>C							p.G366_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			8	1194	+			366			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.1096_splice	CCDS606.1																																																																																				0.398	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Silent	51	78	0	0	0	1	0	51	78				
ACSM6	142827	broad.mit.edu	37	10	96971776	96971776	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96971776T>C	ENST00000394005.3	+	5	906	c.897T>C	c.(895-897)ccT>ccC	p.P299P	C10orf129_ENST00000341686.3_Silent_p.P299P|C10orf129_ENST00000430183.1_Silent_p.P144P			Q6P461	ACSM6_HUMAN		299					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCTTCTGCCCTGAGACTGTTC	0.493																																						ENST00000341686.3																			0				breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(895-897)ccT>ccC		chromosome 10 open reading frame 129							169.0	148.0	155.0					10																	96971776		2203	4300	6503	SO:0001819	synonymous_variant	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96971776T>C																												ENST00000394005.3:c.897T>C	10.37:g.96971776T>C						C10orf129_ENST00000430183.1_Silent_p.P144P|C10orf129_ENST00000394005.3_Silent_p.P299P	p.P299P	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	6	1022	+		Colorectal(252;0.083)	299					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Silent	SNP	ENST00000394005.3	37	c.897T>C	CCDS7440.2																																																																																				0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			12	29	0	0	0	1	0	12	29				
PKHD1L1	93035	broad.mit.edu	37	8	110509271	110509271	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110509271G>A	ENST00000378402.5	+	64	10555	c.10451G>A	c.(10450-10452)tGc>tAc	p.C3484Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3484					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTGGACATGCTGGGATTAT	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10450-10452)tGc>tAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							130.0	123.0	126.0					8																	110509271		1831	4087	5918	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509271G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10451G>A	8.37:g.110509271G>A	ENSP00000367655:p.Cys3484Tyr	HNSCC(38;0.096)					p.C3484Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10555	+			3484					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10451G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303999	0.81136	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80304	-1.36;-1.34	5.8	5.8	0.92144	Pectin lyase fold/virulence factor (1);	0.054481	0.64402	D	0.000001	D	0.85274	0.5659	M	0.62723	1.935	0.37745	D	0.925759	P	0.39003	0.654	P	0.48982	0.597	D	0.86975	0.2100	10	0.59425	D	0.04	.	17.5448	0.87858	0.0:0.0:1.0:0.0	.	3484	Q86WI1	PKHL1_HUMAN	Y	3484;412	ENSP00000367655:C3484Y;ENSP00000437376:C412Y	ENSP00000367655:C3484Y	C	+	2	0	PKHD1L1	110578447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.855000	0.69510	2.740000	0.93945	0.650000	0.86243	TGC		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		36	21	0	0	0	1	0	36	21				
PRPS1L1	221823	broad.mit.edu	37	7	18067046	18067046	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:18067046A>G	ENST00000506618.2	-	1	440	c.360T>C	c.(358-360)ggT>ggC	p.G120G		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	120					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TATGATCCGCACCTGCTATAG	0.468																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(358-360)ggT>ggC		phosphoribosyl pyrophosphate synthetase 1-like 1							148.0	147.0	147.0					7																	18067046		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067046A>G	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.360T>C	7.37:g.18067046A>G							p.G120G	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	440	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		120					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.360T>C	CCDS47552.1																																																																																				0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		19	82	0	0	0	1	0	19	82				
REG1A	5967	broad.mit.edu	37	2	79348783	79348783	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:79348783C>T	ENST00000233735.1	+	3	263	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAATGAAGACCGTGAGACCTG	0.567																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(160-162)Cgt>Tgt		regenerating islet-derived 1 alpha							161.0	153.0	156.0					2																	79348783		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348783C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.160C>T	2.37:g.79348783C>T	ENSP00000233735:p.Arg54Cys						p.R54C	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	263	+			54			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.160C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.963079	0.74016	.	.	ENSG00000115386	ENST00000233735	T	0.62941	-0.01	2.97	2.08	0.27032	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.326850	0.02047	N	0.049728	T	0.63474	0.2514	M	0.74546	2.27	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.08055	0.001;0.003	T	0.44390	-0.9331	10	0.52906	T	0.07	.	5.9352	0.19161	0.0:0.8516:0.0:0.1484	.	54;54	A8K7G6;P05451	.;REG1A_HUMAN	C	54	ENSP00000233735:R54C	ENSP00000233735:R54C	R	+	1	0	REG1A	79202291	0.000000	0.05858	0.001000	0.08648	0.903000	0.53119	-1.525000	0.02231	0.798000	0.33994	0.563000	0.77884	CGT		0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		23	90	0	0	0	1	0	23	90				
MLLT6	4302	broad.mit.edu	37	17	36872797	36872797	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36872797C>T	ENST00000325718.7	+	10	1305	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	405					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCTTTGGGCCCATCATGCGC	0.677			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1213-1215)cCc>cTc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							36.0	42.0	40.0					17																	36872797		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872797C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1214C>T	17.37:g.36872797C>T	ENSP00000316426:p.Pro405Leu					CTB-58E17.9_ENST00000579499.1_RNA	p.P405L	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			10	1305	+	Breast(7;4.43e-21)		405					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1214C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633034	0.87660	.	.	ENSG00000108292	ENST00000325718	T	0.13901	2.55	5.33	5.33	0.75918	.	0.557187	0.18779	N	0.131393	T	0.13286	0.0322	L	0.36672	1.1	0.80722	D	1	P	0.34522	0.455	B	0.30105	0.111	T	0.04454	-1.0950	10	0.59425	D	0.04	.	16.5152	0.84297	0.0:1.0:0.0:0.0	.	405	P55198	AF17_HUMAN	L	405	ENSP00000316426:P405L	ENSP00000316426:P405L	P	+	2	0	MLLT6	34126323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.250000	0.65432	2.503000	0.84419	0.561000	0.74099	CCC		0.677	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		24	46	0	0	0	1	0	24	46				
KIAA1407	57577	broad.mit.edu	37	3	113723532	113723532	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113723532G>A	ENST00000295878.3	-	11	2076	c.1930C>T	c.(1930-1932)Ctc>Ttc	p.L644F	KIAA1407_ENST00000545063.1_Missense_Mutation_p.L475F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	644										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCCTTCTGAGTCCAGAAAGA	0.463																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1930-1932)Ctc>Ttc		KIAA1407							206.0	193.0	197.0					3																	113723532		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113723532G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1930C>T	3.37:g.113723532G>A	ENSP00000295878:p.Leu644Phe					KIAA1407_ENST00000545063.1_Missense_Mutation_p.L475F	p.L644F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			11	2076	-			644					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1930C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	8.627	0.892677	0.17613	.	.	ENSG00000163617	ENST00000295878;ENST00000545063	T;T	0.44083	1.5;0.93	5.39	0.0396	0.14205	.	1.362120	0.03839	N	0.270286	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.017;0.021	B;B	0.19946	0.006;0.027	T	0.25676	-1.0125	10	0.59425	D	0.04	.	3.3965	0.07308	0.4096:0.0:0.4118:0.1786	.	520;644	B4DIZ9;Q8NCU4	.;K1407_HUMAN	F	644;475	ENSP00000295878:L644F;ENSP00000446381:L475F	ENSP00000295878:L644F	L	-	1	0	KIAA1407	115206222	0.992000	0.36948	0.154000	0.22540	0.159000	0.22180	0.199000	0.17237	0.091000	0.17302	0.650000	0.86243	CTC		0.463	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		4	108	0	0	0	1	0	4	108				
CHD8	57680	broad.mit.edu	37	14	21861824	21861824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21861824G>A	ENST00000557364.1	-	32	6393	c.6130C>T	c.(6130-6132)Cga>Tga	p.R2044*	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Nonsense_Mutation_p.R2044*|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Nonsense_Mutation_p.R1765*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2044					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGATACTCGCATCTCATAG	0.552																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6130-6132)Cga>Tga		chromodomain helicase DNA binding protein 8							60.0	62.0	61.0					14																	21861824		2013	4174	6187	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861824G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6130C>T	14.37:g.21861824G>A	ENSP00000451601:p.Arg2044*					CHD8_ENST00000430710.3_Nonsense_Mutation_p.R1765*|CHD8_ENST00000557364.1_Nonsense_Mutation_p.R2044*	p.R2044*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6194	-	all_cancers(95;0.00121)		2044					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.6130C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	45	11.796261	0.99604	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.26	4.37	0.52481	.	0.190474	0.43416	D	0.000573	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.5066	8.9085	0.35539	0.0:0.1634:0.667:0.1696	.	.	.	.	X	1765;2044;1764;2044	.	ENSP00000262707:R1764X	R	-	1	2	CHD8	20931664	1.000000	0.71417	0.993000	0.49108	0.847000	0.48162	2.773000	0.47686	1.466000	0.48025	-0.223000	0.12442	CGA		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	18	0	0	0	1	0	8	18				
MAGEA4	4103	broad.mit.edu	37	X	151092278	151092278	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:151092278C>A	ENST00000360243.2	+	3	409	c.142C>A	c.(142-144)Cct>Act	p.P48T	MAGEA4_ENST00000393921.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P48T|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P48T|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P48T|MAGEA4_ENST00000370335.1_Missense_Mutation_p.P48T	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	48				P -> L (in Ref. 3; BAA06841). {ECO:0000305}.						breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGGTCCCTGGCACCCT	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(142-144)Cct>Act		melanoma antigen family A, 4							62.0	58.0	60.0					X																	151092278		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092278C>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.142C>A	X.37:g.151092278C>A	ENSP00000353379:p.Pro48Thr					MAGEA4_ENST00000276344.2_Missense_Mutation_p.P48T|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P48T|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P48T|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P48T|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P48T	p.P48T			P43358	MAGA4_HUMAN			3	409	+	Acute lymphoblastic leukemia(192;6.56e-05)		48	P -> L (in Ref. 3; BAA06841).				Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.142C>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	1.284	-0.609475	0.03690	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62;3.62	2.4	1.12	0.20585	Melanoma associated antigen, MAGE, N-terminal (1);	3.184590	0.00819	N	0.001567	T	0.07773	0.0195	M	0.65975	2.015	0.09310	N	1	P	0.36086	0.536	B	0.36608	0.229	T	0.38329	-0.9666	10	0.21014	T	0.42	.	4.5033	0.11874	0.0:0.7407:0.0:0.2593	.	48	P43358	MAGA4_HUMAN	T	48	ENSP00000387777:P48T;ENSP00000276344:P48T;ENSP00000391904:P48T;ENSP00000377498:P48T;ENSP00000394149:P48T;ENSP00000359362:P48T;ENSP00000402624:P48T;ENSP00000377497:P48T;ENSP00000359365:P48T;ENSP00000394073:P48T;ENSP00000400900:P48T;ENSP00000402186:P48T;ENSP00000359360:P48T;ENSP00000353379:P48T;ENSP00000390096:P48T	ENSP00000276344:P48T	P	+	1	0	MAGEA4	150842934	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.564000	0.00918	0.183000	0.20059	0.436000	0.28706	CCT		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		12	11	1	0	3.07112e-06	1	3.18879e-06	12	11				
SLC22A2	6582	broad.mit.edu	37	6	160662547	160662547	+	Missense_Mutation	SNP	C	C	T	rs151282335		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160662547C>T	ENST00000366953.3	-	9	1718	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	487					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GTTAGTGAGCCGGTAGACCAG	0.433																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1459-1461)cGg>cAg		solute carrier family 22 (organic cation transporter), member 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	96.0	104.0		1460	4.6	1.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC22A2	NM_003058.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	487/556	160662547	2,13004	2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160662547C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1460G>A	6.37:g.160662547C>T	ENSP00000355920:p.Arg487Gln					SLC22A2_ENST00000491092.1_5'UTR	p.R487Q	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	9	1718	-		Breast(66;0.000776)|Ovarian(120;0.0303)	487					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1460G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307355	0.95629	2.27E-4	1.16E-4	ENSG00000112499	ENST00000366953	T	0.73681	-0.77	4.57	4.57	0.56435	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061303	0.64402	D	0.000009	D	0.87273	0.6136	M	0.91717	3.235	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.89722	0.3920	10	0.66056	D	0.02	.	17.8911	0.88872	0.0:1.0:0.0:0.0	.	487	O15244	S22A2_HUMAN	Q	487	ENSP00000355920:R487Q	ENSP00000355920:R487Q	R	-	2	0	SLC22A2	160582537	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.499000	0.81566	2.528000	0.85240	0.650000	0.86243	CGG		0.433	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		31	37	0	0	0	1	0	31	37				
UNC5D	137970	broad.mit.edu	37	8	35541090	35541090	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:35541090C>T	ENST00000404895.2	+	5	924	c.596C>T	c.(595-597)cCc>cTc	p.P199L	UNC5D_ENST00000287272.2_Missense_Mutation_p.P199L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P199L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P194L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P199L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	199	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AATGAAGAGCCCATTGACTCT	0.438																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(595-597)cCc>cTc		unc-5 homolog D (C. elegans)							90.0	80.0	84.0					8																	35541090		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541090C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.596C>T	8.37:g.35541090C>T	ENSP00000385143:p.Pro199Leu					UNC5D_ENST00000453357.2_Missense_Mutation_p.P194L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P199L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P199L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P199L	p.P199L			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	616	+			199			Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.596C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367271	0.24771	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261461	0.40469	N	0.001091	T	0.44201	0.1282	N	0.12663	0.25	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.37549	-0.9701	10	0.13853	T	0.58	-22.7175	10.0845	0.42410	0.0:0.8511:0.0:0.1489	.	194;199	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	L	199;199;199;199;194	ENSP00000385143:P199L;ENSP00000392739:P199L;ENSP00000287272:P199L;ENSP00000412652:P199L;ENSP00000394303:P194L	ENSP00000287272:P199L	P	+	2	0	UNC5D	35660632	0.985000	0.35326	1.000000	0.80357	0.974000	0.67602	1.151000	0.31651	2.709000	0.92574	0.655000	0.94253	CCC		0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			6	21	0	0	0	1	0	6	21				
SPTBN5	51332	broad.mit.edu	37	15	42162698	42162698	+	Silent	SNP	G	G	A	rs375645263		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42162698G>A	ENST00000320955.6	-	30	5735	c.5508C>T	c.(5506-5508)acC>acT	p.T1836T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1836					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGGTCTCGGTGTCTCGGA	0.652																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5506-5508)acC>acT		spectrin, beta, non-erythrocytic 5							77.0	81.0	79.0					15																	42162698		2037	4183	6220	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162698G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5508C>T	15.37:g.42162698G>A							p.T1836T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	30	5735	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1836						Silent	SNP	ENST00000320955.6	37	c.5508C>T																																																																																					0.652	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	19	0	0	0	1	0	11	19				
COL27A1	85301	broad.mit.edu	37	9	117072862	117072862	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117072862A>G	ENST00000356083.3	+	61	5861	c.5470A>G	c.(5470-5472)Acc>Gcc	p.T1824A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1824	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GACACTCTTCACCTTCCGGAC	0.532																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5470-5472)Acc>Gcc		collagen, type XXVII, alpha 1							182.0	139.0	154.0					9																	117072862		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072862A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5470A>G	9.37:g.117072862A>G	ENSP00000348385:p.Thr1824Ala						p.T1824A	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5861	+			1824			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5470A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	9.980	1.227810	0.22542	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.72615	-0.67	5.63	5.63	0.86233	Fibrillar collagen, C-terminal (4);	.	.	.	.	T	0.71921	0.3397	L	0.42245	1.32	0.27054	N	0.963705	B;D	0.58620	0.372;0.983	B;P	0.54759	0.403;0.76	T	0.62704	-0.6798	9	0.13853	T	0.58	.	13.7947	0.63164	1.0:0.0:0.0:0.0	.	139;1824	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	A	1824;1831	ENSP00000348385:T1824A	ENSP00000348385:T1824A	T	+	1	0	COL27A1	116112683	0.156000	0.22821	1.000000	0.80357	0.985000	0.73830	0.491000	0.22419	2.138000	0.66242	0.459000	0.35465	ACC		0.532	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		21	24	0	0	0	1	0	21	24				
PPP1R27	116729	broad.mit.edu	37	17	79792477	79792477	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79792477C>T	ENST00000330261.4	-	2	322	c.243G>A	c.(241-243)aaG>aaA	p.K81K	FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000573478.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000572645.1_5'Flank|FAM195B_ENST00000538396.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|PPP1R27_ENST00000570394.1_Silent_p.K81K	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	81					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGACCAGCAGCTTCACGCATT	0.622																																						ENST00000570394.1																			0											c.(241-243)aaG>aaA		protein phosphatase 1, regulatory subunit 27							167.0	131.0	143.0					17																	79792477		2203	4300	6503	SO:0001819	synonymous_variant	116729							g.chr17:79792477C>T	AF434846	CCDS32767.1	17q25.3	2013-01-10	2011-10-11	2011-10-11	ENSG00000182676	ENSG00000182676		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	16813	protein-coding gene	gene with protein product			"""dysferlin-interacting protein 1 (toonin)"", ""dysferlin interacting protein 1 (toonin)"", ""dysferlin interacting protein 1"""	DYSFIP1			Standard	NM_001007533		Approved	toonin	uc002kbj.1	Q86WC6		ENST00000330261.4:c.243G>A	17.37:g.79792477C>T						PPP1R27_ENST00000330261.4_Silent_p.K81K	p.K81K			Q86WC6	DYSI1_HUMAN			2	339	-			81						Silent	SNP	ENST00000330261.4	37	c.243G>A	CCDS32767.1																																																																																				0.622	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533		19	27	0	0	0	1	0	19	27				
TRAV25	28658	broad.mit.edu	37	14	22580421	22580421	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22580421C>T	ENST00000390454.2	+	0	122									T cell receptor alpha variable 25																		GCAATTGTCACGTGAGTTTGA	0.453																																						ENST00000390454.2																			0																				138.0	134.0	135.0					14																	22580421		1921	4136	6057			0							g.chr14:22580421C>T	AE000660		14q11.2	2012-02-07			ENSG00000211806	ENSG00000211806		"""T cell receptors / TRA locus"""	12122	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV25S1, TCRAV32S1			OTTHUMG00000170653		14.37:g.22580421C>T														0	122	+									RNA	SNP	ENST00000390454.2	37																																																																																						0.453	TRAV25-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409901.1	NG_001332		25	29	0	0	0	1	0	25	29				
OR52B2	255725	broad.mit.edu	37	11	6191393	6191393	+	Missense_Mutation	SNP	C	C	T	rs201572583		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6191393C>T	ENST00000530810.1	-	1	245	c.164G>A	c.(163-165)cGt>cAt	p.R55H	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGAAGGTTACGTTCCATGAC	0.483													c|||	1	0.000199681	0.0	0.0014	5008	,	,		24317	0.0		0.0	False		,,,				2504	0.0				NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(163-165)cGt>cAt		olfactory receptor, family 52, subfamily B, member 2		T	HIS/ARG	0,4192		0,0,2096	192.0	191.0	191.0		164	-1.5	0.0	11		191	2,8458		0,2,4228	yes	missense	OR52B2	NM_001004052.1	29	0,2,6324	TT,TC,CC		0.0236,0.0,0.0158	benign	55/324	6191393	2,12650	2096	4230	6326	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191393C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.164G>A	11.37:g.6191393C>T	ENSP00000432011:p.Arg55His					RP11-290F24.3_ENST00000529961.1_RNA	p.R55H	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	245	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	55					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.164G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	c	0.264	-0.997820	0.02145	0.0	2.36E-4	ENSG00000255307	ENST00000530810	T	0.00438	7.42	5.02	-1.49	0.08718	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.20807	0.61	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.20075	-1.0286	9	0.16420	T	0.52	.	12.0447	0.53473	0.0:0.6098:0.0:0.3902	.	55	Q96RD2	O52B2_HUMAN	H	55	ENSP00000432011:R55H	ENSP00000432011:R55H	R	-	2	0	OR52B2	6147969	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.893000	0.00708	-0.775000	0.04584	-2.920000	0.00090	CGT		0.483	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		29	45	0	0	0	1	0	29	45				
ERCC6	2074	broad.mit.edu	37	10	50669577	50669577	+	Silent	SNP	G	G	A	rs116032070	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50669577G>A	ENST00000355832.5	-	19	3882	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H	ERCC6_ENST00000542458.1_Silent_p.H638H|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1268					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGATGGCATCGTGCTTCATGA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	2	0.000399361	0.0	0.0	5008	,	,		19754	0.0		0.001	False		,,,				2504	0.001					ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3802-3804)caC>caT	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6		G		0,4406		0,0,2203	72.0	54.0	60.0		3804	-5.3	0.6	10	dbSNP_132	60	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ERCC6	NM_000124.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		1268/1494	50669577	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50669577G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3804C>T	10.37:g.50669577G>A						ERCC6_ENST00000542458.1_Silent_p.H638H|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	p.H1268H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			19	3882	-			1268					D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.3804C>T	CCDS7229.1																																																																																				0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		11	9	0	0	0	1	0	11	9				
AUTS2	26053	broad.mit.edu	37	7	70255719	70255719	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:70255719G>A	ENST00000342771.4	+	19	3838	c.3517G>A	c.(3517-3519)Gcc>Acc	p.A1173T	AUTS2_ENST00000406775.2_Missense_Mutation_p.A1149T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1173	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTGCACCCCGCCTCCCTCGA	0.697																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3517-3519)Gcc>Acc		autism susceptibility candidate 2							42.0	51.0	48.0					7																	70255719		2202	4300	6502	SO:0001583	missense	26053							g.chr7:70255719G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3517G>A	7.37:g.70255719G>A	ENSP00000344087:p.Ala1173Thr					AUTS2_ENST00000406775.2_Missense_Mutation_p.A1149T	p.A1173T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3838	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1173			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3517G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460321	0.84317	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.31510	1.49;1.49	5.15	4.26	0.50523	.	0.217711	0.47455	D	0.000221	T	0.33147	0.0853	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.987;0.998;0.995	P;P;P	0.47915	0.56;0.561;0.561	T	0.04855	-1.0922	9	.	.	.	-20.2571	14.022	0.64560	0.0747:0.0:0.9252:0.0	.	625;1149;1173	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	T	1149;1173	ENSP00000385263:A1149T;ENSP00000344087:A1173T	.	A	+	1	0	AUTS2	69893655	0.998000	0.40836	0.997000	0.53966	0.987000	0.75469	2.610000	0.46325	2.404000	0.81709	0.655000	0.94253	GCC		0.697	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			6	8	0	0	0	1	0	6	8				
MYO5B	4645	broad.mit.edu	37	18	47431149	47431149	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47431149G>A	ENST00000285039.7	-	20	2763	c.2464C>T	c.(2464-2466)Cat>Tat	p.H822Y	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	822	Arg-rich.|IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGCGGTAATGTTTCTGGAGC	0.617																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2464-2466)Cat>Tat		myosin VB							39.0	46.0	44.0					18																	47431149		1990	4152	6142	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47431149G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2464C>T	18.37:g.47431149G>A	ENSP00000285039:p.His822Tyr						p.H822Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	20	2763	-			822			Arg-rich.|IQ 3.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2464C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.186559	0.01620	.	.	ENSG00000167306	ENST00000285039	T	0.70749	-0.51	5.37	3.58	0.41010	.	0.205916	0.42682	D	0.000662	T	0.34716	0.0907	N	0.01086	-1.025	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	10	0.02654	T	1	.	11.2041	0.48758	0.151:0.0:0.849:0.0	.	822	Q9ULV0	MYO5B_HUMAN	Y	822	ENSP00000285039:H822Y	ENSP00000285039:H822Y	H	-	1	0	MYO5B	45685147	1.000000	0.71417	0.995000	0.50966	0.024000	0.10985	3.002000	0.49496	1.268000	0.44264	-0.137000	0.14449	CAT		0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			14	21	0	0	0	1	0	14	21				
MEPE	56955	broad.mit.edu	37	4	88766450	88766450	+	Missense_Mutation	SNP	G	G	A	rs148637496		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88766450G>A	ENST00000424957.3	+	4	503	c.430G>A	c.(430-432)Gca>Aca	p.A144T	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.A120T|MEPE_ENST00000560249.1_Missense_Mutation_p.A31T|MEPE_ENST00000361056.3_Missense_Mutation_p.A144T|MEPE_ENST00000540395.1_Missense_Mutation_p.A31T|MEPE_ENST00000395102.4_Missense_Mutation_p.A175T	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	144					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A144T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAATATGGCGCAGCTCTCAT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17066	0.001		0.0	False		,,,				2504	0.0					ENST00000497649.2																			1	Substitution - Missense(1)	p.A144T(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(358-360)Gca>Aca		matrix extracellular phosphoglycoprotein		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	67.0	66.0	66.0		430,91,91,91,430	-6.0	0.0	4	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	MEPE	NM_001184694.1,NM_001184695.1,NM_001184696.1,NM_001184697.1,NM_020203.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	144/526,31/413,31/413,31/413,144/526	88766450	1,13005	2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766450G>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.430G>A	4.37:g.88766450G>A	ENSP00000416984:p.Ala144Thr					MEPE_ENST00000424957.3_Missense_Mutation_p.A144T|MEPE_ENST00000560249.1_Missense_Mutation_p.A31T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.A144T|MEPE_ENST00000540395.1_Missense_Mutation_p.A31T|MEPE_ENST00000395102.4_Missense_Mutation_p.A175T	p.A120T			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	736	+		Hepatocellular(203;0.114)	144					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.358G>A	CCDS3625.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.965	0.971637	0.18736	0.0	1.16E-4	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.53423	4.37;0.63;0.62;0.66;4.37	4.84	-6.02	0.02192	.	1.188580	0.06056	N	0.657516	T	0.23846	0.0577	L	0.33624	1.015	0.09310	N	1	P	0.38711	0.643	B	0.27715	0.082	T	0.14476	-1.0471	10	0.19147	T	0.46	-0.0246	4.3233	0.11027	0.5714:0.1098:0.2076:0.1112	.	144	Q9NQ76	MEPE_HUMAN	T	144;144;175;120;31;144	ENSP00000416984:A144T;ENSP00000378534:A175T;ENSP00000422747:A120T;ENSP00000443491:A31T;ENSP00000354341:A144T	ENSP00000354341:A144T	A	+	1	0	MEPE	88985474	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.239000	0.08965	-1.469000	0.01890	-0.829000	0.03081	GCA		0.428	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			17	30	0	0	0	1	0	17	30				
YME1L1	10730	broad.mit.edu	37	10	27411890	27411890	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27411890G>A	ENST00000326799.3	-	12	1434	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	YME1L1_ENST00000463270.1_5'Flank|YME1L1_ENST00000375972.3_Missense_Mutation_p.A339V|YME1L1_ENST00000376016.3_Missense_Mutation_p.A372V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	429					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGGAGCATTCGCCTTTGCTTC	0.328																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1285-1287)gCg>gTg		YME1-like 1 ATPase							92.0	91.0	92.0					10																	27411890		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27411890G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1286C>T	10.37:g.27411890G>A	ENSP00000318480:p.Ala429Val					YME1L1_ENST00000375972.3_Missense_Mutation_p.A339V|YME1L1_ENST00000376016.3_Missense_Mutation_p.A372V	p.A429V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			12	1434	-			429					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1286C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132346	0.94473	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.93076	-3.16;-3.16;-3.16	5.91	5.91	0.95273	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.271326	0.39909	N	0.001224	D	0.91556	0.7333	L	0.31207	0.915	0.80722	D	1	P;P;D	0.55800	0.936;0.874;0.973	P;B;P	0.49276	0.598;0.355;0.605	D	0.92318	0.5863	10	0.72032	D	0.01	-14.0279	15.7461	0.77944	0.0:0.1357:0.8643:0.0	.	339;372;429	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	V	372;429;429;339;175	ENSP00000365184:A372V;ENSP00000318480:A429V;ENSP00000365139:A339V	ENSP00000318480:A429V	A	-	2	0	YME1L1	27451896	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.669000	0.61575	2.804000	0.96469	0.650000	0.86243	GCG		0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		50	71	0	0	0	1	0	50	71				
AMIGO1	57463	broad.mit.edu	37	1	110050781	110050781	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110050781A>G	ENST00000369864.4	-	2	1103	c.754T>C	c.(754-756)Tac>Cac	p.Y252H	AMIGO1_ENST00000369862.1_Missense_Mutation_p.Y252H					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCATGCAGTACAGATCCTCT	0.532																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(754-756)Tac>Cac		adhesion molecule with Ig-like domain 1							88.0	89.0	89.0					1																	110050781		2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050781A>G		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.754T>C	1.37:g.110050781A>G	ENSP00000358880:p.Tyr252His					AMIGO1_ENST00000369862.1_Missense_Mutation_p.Y252H	p.Y252H			Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	1103	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	252			LRRCT.			Missense_Mutation	SNP	ENST00000369864.4	37	c.754T>C	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	A	5.564	0.288999	0.10513	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.02421	4.3;4.3	5.75	4.63	0.57726	Cysteine-rich flanking region, C-terminal (1);	0.215406	0.32190	N	0.006455	T	0.00967	0.0032	L	0.36672	1.1	0.32502	N	0.5388	B	0.02656	0.0	B	0.04013	0.001	T	0.48647	-0.9017	10	0.27082	T	0.32	-13.2316	8.5221	0.33282	0.9123:0.0:0.0877:0.0	.	252	Q86WK6	AMGO1_HUMAN	H	252	ENSP00000358880:Y252H;ENSP00000358878:Y252H	ENSP00000358878:Y252H	Y	-	1	0	AMIGO1	109852304	0.086000	0.21541	1.000000	0.80357	0.961000	0.63080	0.728000	0.26013	1.004000	0.39156	0.528000	0.53228	TAC		0.532	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		4	91	0	0	0	1	0	4	91				
KBTBD7	84078	broad.mit.edu	37	13	41766626	41766626	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41766626T>C	ENST00000379483.3	-	1	2076	c.1768A>G	c.(1768-1770)Act>Gct	p.T590A		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	590										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCTTCCCTAGTATCATACTCA	0.418																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1768-1770)Act>Gct		kelch repeat and BTB (POZ) domain containing 7							172.0	164.0	166.0					13																	41766626		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766626T>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1768A>G	13.37:g.41766626T>C	ENSP00000368797:p.Thr590Ala						p.T590A	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2076	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	590					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1768A>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	0.326	-0.958934	0.02267	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66638	-0.22	5.58	1.82	0.25136	Kelch-type beta propeller (1);	0.347812	0.27411	U	0.019496	T	0.33118	0.0852	N	0.02011	-0.69	0.29762	N	0.835474	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	10	0.51188	T	0.08	.	4.0232	0.09675	0.0:0.2745:0.1958:0.5297	.	590	Q8WVZ9	KBTB7_HUMAN	A	590;492	ENSP00000368797:T590A	ENSP00000368797:T590A	T	-	1	0	KBTBD7	40664626	0.968000	0.33430	0.972000	0.41901	0.812000	0.45895	0.766000	0.26560	0.946000	0.37632	-0.385000	0.06624	ACT		0.418	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		35	41	0	0	0	1	0	35	41				
SLC25A13	10165	broad.mit.edu	37	7	95775911	95775911	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:95775911G>T	ENST00000265631.5	-	14	1545	c.1409C>A	c.(1408-1410)gCt>gAt	p.A470D	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362D|SLC25A13_ENST00000416240.2_Missense_Mutation_p.A471D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	470					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1411-1413)gCt>gAt		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						123.0	141.0	135.0					7																	95775911		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775911G>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1409C>A	7.37:g.95775911G>T	ENSP00000265631:p.Ala470Asp					SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362D|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470D	p.A471D	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1602	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		470					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1412C>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990786	0.74589	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79845	-1.31;-1.31;-1.31	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95491	0.8569	10	0.87932	D	0	-14.0578	18.0706	0.89405	0.0:0.0:1.0:0.0	.	362;471;470	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	470;471;362	ENSP00000265631:A470D;ENSP00000400101:A471D;ENSP00000440484:A362D	ENSP00000265631:A470D	A	-	2	0	SLC25A13	95613847	1.000000	0.71417	0.944000	0.38274	0.222000	0.24845	9.657000	0.98554	2.575000	0.86900	0.655000	0.94253	GCT		0.433	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		54	80	1	0	3.07002e-29	1	3.43787e-29	54	80				
PCBP2	5094	broad.mit.edu	37	12	53861054	53861054	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53861054C>T	ENST00000439930.3	+	10	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCBP2_ENST00000549863.1_Missense_Mutation_p.T214M|PCBP2_ENST00000541275.1_Missense_Mutation_p.T255M|PCBP2_ENST00000552296.2_Missense_Mutation_p.T255M|PCBP2_ENST00000546463.1_Missense_Mutation_p.T255M|PCBP2_ENST00000359282.5_Missense_Mutation_p.T224M|PCBP2_ENST00000548933.1_Missense_Mutation_p.T228M|PCBP2_ENST00000603815.1_Missense_Mutation_p.T259M|PCBP2_ENST00000447282.1_Missense_Mutation_p.T228M|PCBP2_ENST00000437231.1_Missense_Mutation_p.T224M|PCBP2_ENST00000359462.5_Missense_Mutation_p.T259M|PCBP2_ENST00000455667.3_Missense_Mutation_p.T224M|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552819.1_Missense_Mutation_p.T228M			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	259					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TTTCCCATGACGCATGGCAAC	0.488																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(775-777)aCg>aTg		poly(rC) binding protein 2							175.0	148.0	157.0					12																	53861054		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53861054C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.776C>T	12.37:g.53861054C>T	ENSP00000408949:p.Thr259Met					PCBP2_ENST00000552819.1_Missense_Mutation_p.T228M|PCBP2_ENST00000546463.1_Missense_Mutation_p.T255M|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.T255M|PCBP2_ENST00000548933.1_Missense_Mutation_p.T228M|PCBP2_ENST00000549863.1_Missense_Mutation_p.T214M|PCBP2_ENST00000455667.3_Missense_Mutation_p.T224M|PCBP2_ENST00000447282.1_Missense_Mutation_p.T228M|PCBP2_ENST00000439930.3_Missense_Mutation_p.T259M|PCBP2_ENST00000541275.1_Missense_Mutation_p.T255M|PCBP2_ENST00000359462.5_Missense_Mutation_p.T259M|PCBP2_ENST00000437231.1_Missense_Mutation_p.T224M|PCBP2_ENST00000359282.5_Missense_Mutation_p.T224M	p.T259M	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			11	1126	+			259					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.776C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550276	0.45383	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.85;1.47;1.48;1.44;1.5;1.45;1.51;1.5;1.9;1.45;1.44;1.48	5.72	5.72	0.89469	.	0.085619	0.45361	D	0.000362	T	0.18635	0.0447	N	0.16130	0.375	0.39668	D	0.970719	B;B;B;B;P;B;B;B;B;B;B	0.36125	0.005;0.075;0.062;0.01;0.538;0.0;0.006;0.028;0.001;0.016;0.003	B;B;B;B;B;B;B;B;B;B;B	0.23018	0.005;0.018;0.025;0.004;0.043;0.003;0.01;0.027;0.003;0.004;0.004	T	0.06092	-1.0846	10	0.40728	T	0.16	.	18.6361	0.91379	0.0:1.0:0.0:0.0	.	228;255;216;259;201;228;224;255;224;259;255	B4DXP5;B4DLC0;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	M	255;224;228;224;259;214;259;201;255;255;216;228;224;228;176;88	ENSP00000446130:T255M;ENSP00000352228:T224M;ENSP00000394116:T228M;ENSP00000390304:T224M;ENSP00000408949:T259M;ENSP00000447670:T214M;ENSP00000352438:T259M;ENSP00000448762:T255M;ENSP00000448927:T255M;ENSP00000449070:T228M;ENSP00000388008:T224M;ENSP00000449062:T228M	ENSP00000352228:T224M	T	+	2	0	PCBP2	52147321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.702000	0.92279	0.655000	0.94253	ACG		0.488	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		25	54	0	0	0	1	0	25	54				
RGS7BP	401190	broad.mit.edu	37	5	63871674	63871674	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:63871674A>G	ENST00000334025.2	+	3	732	c.406A>G	c.(406-408)Acc>Gcc	p.T136A	RGS7BP_ENST00000508162.1_3'UTR|RNU6-294P_ENST00000364999.1_RNA	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	136					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATGTATACCACAGAGAT	0.428																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(406-408)Acc>Gcc		regulator of G-protein signaling 7 binding protein							113.0	110.0	111.0					5																	63871674		2203	4300	6503	SO:0001583	missense	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871674A>G	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.406A>G	5.37:g.63871674A>G	ENSP00000334851:p.Thr136Ala					RGS7BP_ENST00000508162.1_3'UTR	p.T136A	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	732	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	136					B7Z3X1	Missense_Mutation	SNP	ENST00000334025.2	37	c.406A>G	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909288	0.72868	.	.	ENSG00000186479	ENST00000334025	T	0.30714	1.52	5.91	4.75	0.60458	.	0.106440	0.64402	D	0.000002	T	0.18215	0.0437	N	0.19112	0.55	0.38803	D	0.955245	B	0.02656	0.0	B	0.08055	0.003	T	0.07214	-1.0784	10	0.09843	T	0.71	4.5856	11.9291	0.52837	0.9326:0.0:0.0674:0.0	.	136	Q6MZT1	R7BP_HUMAN	A	136	ENSP00000334851:T136A	ENSP00000334851:T136A	T	+	1	0	RGS7BP	63907430	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.135000	0.71696	1.065000	0.40693	0.533000	0.62120	ACC		0.428	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		31	50	0	0	0	1	0	31	50				
ZC3H12C	85463	broad.mit.edu	37	11	110035942	110035942	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:110035942C>T	ENST00000278590.3	+	6	2183	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.P680L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P712L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	711							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTGCACCTGCCGCACTCCGCT	0.587																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2038-2040)cCg>cTg		zinc finger CCCH-type containing 12C							136.0	158.0	150.0					11																	110035942		2117	4231	6348	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035942C>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2132C>T	11.37:g.110035942C>T	ENSP00000278590:p.Pro711Leu					ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P711L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P712L	p.P680L			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2920	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	711					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2039C>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621524	0.87460	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.29917	1.55;1.55;1.55	5.94	4.8	0.61643	.	0.114074	0.64402	D	0.000009	T	0.22742	0.0549	L	0.29908	0.895	0.31796	N	0.629025	B;B;B	0.21688	0.059;0.059;0.059	B;B;B	0.14023	0.01;0.01;0.01	T	0.11717	-1.0576	10	0.24483	T	0.36	-9.1517	13.1354	0.59405	0.7474:0.2526:0.0:0.0	.	712;711;711	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	L	711;712;680	ENSP00000278590:P711L;ENSP00000431821:P712L;ENSP00000413094:P680L	ENSP00000278590:P711L	P	+	2	0	ZC3H12C	109541152	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.217000	0.58547	0.484000	0.27630	-0.363000	0.07495	CCG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		44	81	0	0	0	1	0	44	81				
LYPD6	130574	broad.mit.edu	37	2	150325226	150325226	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:150325226C>A	ENST00000334166.4	+	4	542	c.285C>A	c.(283-285)cgC>cgA	p.R95R	LYPD6_ENST00000409381.1_Silent_p.R95R	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	95	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TCACCAAACGCTGTGTCCCAC	0.483																																						ENST00000334166.4																			0				large_intestine(1)|lung(4)	5						c.(283-285)cgC>cgA		LY6/PLAUR domain containing 6							236.0	211.0	220.0					2																	150325226		2203	4300	6503	SO:0001819	synonymous_variant	130574					extracellular region		g.chr2:150325226C>A	BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.285C>A	2.37:g.150325226C>A						LYPD6_ENST00000409381.1_Silent_p.R95R	p.R95R	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0667)	4	542	+			95			UPAR/Ly6.		B3KWC0|Q4G121|Q53TR3|Q659B1	Silent	SNP	ENST00000334166.4	37	c.285C>A	CCDS2188.1																																																																																				0.483	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254800.2	NM_194317		33	74	1	0	6.97489e-18	1	7.68957e-18	33	74				
MYO1F	4542	broad.mit.edu	37	19	8612935	8612935	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8612935G>A	ENST00000338257.8	-	12	1521	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	418	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGCCTTCAGGGTAAGTTCGA	0.547																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1252-1254)acC>acT		myosin IF							98.0	93.0	94.0					19																	8612935		1878	4106	5984	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612935G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1254C>T	19.37:g.8612935G>A							p.T418T	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1521	-			418			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1254C>T	CCDS42494.1																																																																																				0.547	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			38	54	0	0	0	1	0	38	54				
MTHFSD	64779	broad.mit.edu	37	16	86585801	86585801	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86585801C>T	ENST00000360900.6	-	3	149				MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000381214.5_Missense_Mutation_p.R74H|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R73H|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R74H(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GACGAAGAAGCGAGCACTTTT	0.498																																						ENST00000381214.5																			1	Substitution - Missense(1)	p.R74H(1)	central_nervous_system(1)	endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(220-222)cGc>cAc		methenyltetrahydrofolate synthetase domain containing							83.0	84.0	84.0					16																	86585801		1925	4123	6048	SO:0001627	intron_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86585801C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.124-49G>A	16.37:g.86585801C>T						MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R73H|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Intron	p.R74H	NM_001159378.1	NP_001152850.1	Q2M296	MTHSD_HUMAN			3	239	-			74					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.221G>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110373	0.94292	.	.	ENSG00000103248	ENST00000381214	T	0.45668	0.89	5.93	5.93	0.95920	.	.	.	.	.	T	0.75774	0.3895	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81982	-0.0683	9	0.87932	D	0	.	19.3303	0.94283	0.0:1.0:0.0:0.0	.	74;73	E9PAM1;B7ZLC0	.;.	H	74	ENSP00000370612:R74H	ENSP00000370612:R74H	R	-	2	0	MTHFSD	85143302	1.000000	0.71417	0.990000	0.47175	0.896000	0.52359	5.408000	0.66368	2.810000	0.96702	0.655000	0.94253	CGC		0.498	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		16	23	0	0	0	1	0	16	23				
TENM4	26011	broad.mit.edu	37	11	78468006	78468006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:78468006G>A	ENST00000278550.7	-	19	3062	c.2600C>T	c.(2599-2601)cCg>cTg	p.P867L	RP11-673F18.1_ENST00000526741.1_RNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	867					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAGGCACAGCGGGTTGATATG	0.547																																						ENST00000278550.7																			0											c.(2599-2601)cCg>cTg		teneurin transmembrane protein 4							61.0	67.0	65.0					11																	78468006		2181	4278	6459	SO:0001583	missense	26011							g.chr11:78468006G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2600C>T	11.37:g.78468006G>A	ENSP00000278550:p.Pro867Leu						p.P867L	NM_001098816.2	NP_001092286.2					19	3062	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.2600C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258576	0.23051	.	.	ENSG00000149256	ENST00000278550	T	0.10860	2.83	5.26	4.36	0.52297	.	0.294558	0.33631	N	0.004719	T	0.10208	0.0250	L	0.41710	1.295	0.26159	N	0.980021	B	0.18461	0.028	B	0.09377	0.004	T	0.16571	-1.0398	9	.	.	.	.	14.253	0.66033	0.0713:0.0:0.9287:0.0	.	867	Q6N022	TEN4_HUMAN	L	867	ENSP00000278550:P867L	.	P	-	2	0	ODZ4	78145654	0.986000	0.35501	0.923000	0.36655	0.512000	0.34134	3.271000	0.51608	1.468000	0.48064	-0.214000	0.12660	CCG		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	16	0	0	0	1	0	4	16				
VPS13D	55187	broad.mit.edu	37	1	12443156	12443156	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12443156C>A	ENST00000358136.3	+	58	11442	c.11312C>A	c.(11311-11313)cCt>cAt	p.P3771H	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3746H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAATGAGACCTGGTTCTGGA	0.423																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11311-11313)cCt>cAt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							101.0	97.0	98.0					1																	12443156		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12443156C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11312C>A	1.37:g.12443156C>A	ENSP00000350854:p.Pro3771His					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3746H	p.P3771H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	58	11442	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3770						Missense_Mutation	SNP	ENST00000358136.3	37	c.11312C>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.854156|4.854156	0.91355|0.91355	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.57752	.|0.38;0.39	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75510|0.75510	0.3859|0.3859	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.76732|0.76732	-0.2851|-0.2851	5|10	.|0.72032	.|D	.|0.01	.|.	20.1606|20.1606	0.98132|0.98132	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3746;3770	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	M|H	2593|3746;3771	.|ENSP00000348666:P3746H;ENSP00000350854:P3771H	.|ENSP00000348666:P3746H	L|P	+|+	1|2	2|0	VPS13D|VPS13D	12365743|12365743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.192000|7.192000	0.77771|0.77771	2.772000|2.772000	0.95346|0.95346	0.650000|0.650000	0.86243|0.86243	CTG|CCT		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		30	41	1	0	1.75199e-13	1	1.90424e-13	30	41				
PARD3	56288	broad.mit.edu	37	10	34759156	34759156	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:34759156C>T	ENST00000374789.3	-	4	764	c.439G>A	c.(439-441)Gct>Act	p.A147T	PARD3_ENST00000545260.1_Missense_Mutation_p.A147T|PARD3_ENST00000374794.3_Missense_Mutation_p.A147T|PARD3_ENST00000340077.5_Missense_Mutation_p.A147T|PARD3_ENST00000350537.4_Missense_Mutation_p.A147T|PARD3_ENST00000346874.4_Missense_Mutation_p.A147T|PARD3_ENST00000374790.3_Missense_Mutation_p.A147T|PARD3_ENST00000374773.1_Missense_Mutation_p.A147T|PARD3_ENST00000374788.3_Missense_Mutation_p.A147T|PARD3_ENST00000545693.1_Missense_Mutation_p.A147T|PARD3_ENST00000374776.1_Missense_Mutation_p.A147T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	147					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCAATTAGAGCTGGGTCACTA	0.423																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(439-441)Gct>Act		par-3 family cell polarity regulator							122.0	121.0	121.0					10																	34759156		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34759156C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.439G>A	10.37:g.34759156C>T	ENSP00000363921:p.Ala147Thr					PARD3_ENST00000374794.3_Missense_Mutation_p.A147T|PARD3_ENST00000350537.4_Missense_Mutation_p.A147T|PARD3_ENST00000374788.3_Missense_Mutation_p.A147T|PARD3_ENST00000374773.1_Missense_Mutation_p.A147T|PARD3_ENST00000545693.1_Missense_Mutation_p.A147T|PARD3_ENST00000374776.1_Missense_Mutation_p.A147T|PARD3_ENST00000346874.4_Missense_Mutation_p.A147T|PARD3_ENST00000374790.3_Missense_Mutation_p.A147T|PARD3_ENST00000545260.1_Missense_Mutation_p.A147T|PARD3_ENST00000340077.5_Missense_Mutation_p.A147T	p.A147T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			4	764	-		Breast(68;0.0707)	147					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.439G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877853	0.91664	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.20738	2.41;2.38;2.47;2.46;2.5;2.36;2.43;2.37;2.08;2.05;2.14	6.03	6.03	0.97812	.	0.045192	0.85682	D	0.000000	T	0.40322	0.1112	L	0.38531	1.155	0.80722	D	1	P;D;D;D;D;D;D;P;D;D;D;D;D	0.76494	0.94;0.999;0.998;0.997;0.998;0.987;0.997;0.855;0.985;0.995;0.987;0.984;0.987	P;D;D;D;D;P;D;P;P;P;P;P;P	0.87578	0.734;0.994;0.998;0.946;0.998;0.869;0.946;0.574;0.826;0.885;0.869;0.878;0.869	T	0.02345	-1.1173	10	0.46703	T	0.11	.	20.1617	0.98138	0.0:1.0:0.0:0.0	.	147;147;147;147;147;147;147;147;147;147;147;147;147	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.	T	147	ENSP00000443147:A147T;ENSP00000440857:A147T;ENSP00000363921:A147T;ENSP00000363920:A147T;ENSP00000340591:A147T;ENSP00000363926:A147T;ENSP00000311986:A147T;ENSP00000363922:A147T;ENSP00000363908:A147T;ENSP00000341844:A147T;ENSP00000363905:A147T	ENSP00000341844:A147T	A	-	1	0	PARD3	34799162	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.249000	0.65427	2.854000	0.98071	0.655000	0.94253	GCT		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	97	0	0	0	1	0	4	97				
FLG	2312	broad.mit.edu	37	1	152275878	152275878	+	Silent	SNP	C	C	T	rs370872906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11482-11484)tcG>tcA		filaggrin		C		0,4406		0,0,2203	287.0	286.0	286.0		11484	-4.6	0.0	1		286	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3828/4062	152275878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275878C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11484G>A	1.37:g.152275878C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3828S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11519	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3828			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11484G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		105	155	0	0	0	1	0	105	155				
WEE2	494551	broad.mit.edu	37	7	141427171	141427171	+	Missense_Mutation	SNP	G	G	A	rs184712220		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141427171G>A	ENST00000397541.2	+	10	1866	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	487					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACAGTTCTCCGGCCTTCCCTG	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17750	0.0		0.0	False		,,,				2504	0.0					ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1459-1461)cGg>cAg		WEE1 homolog 2 (S. pombe)		G	GLN/ARG	1,3703		0,1,1851	119.0	118.0	118.0		1460	5.6	0.7	7		118	0,8192		0,0,4096	no	missense	WEE2	NM_001105558.1	43	0,1,5947	AA,AG,GG		0.0,0.027,0.0084	benign	487/568	141427171	1,11895	1852	4096	5948	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141427171G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1460G>A	7.37:g.141427171G>A	ENSP00000380675:p.Arg487Gln					WEE2-AS1_ENST00000488785.1_RNA	p.R487Q	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			10	1866	+	Melanoma(164;0.0171)		487						Missense_Mutation	SNP	ENST00000397541.2	37	c.1460G>A	CCDS43660.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.87	1.768079	0.31320	2.7E-4	0.0	ENSG00000214102	ENST00000397541	T	0.39406	1.08	5.6	5.6	0.85130	Protein kinase-like domain (1);	0.269957	0.29972	U	0.010737	T	0.41789	0.1174	M	0.64997	1.995	0.30742	N	0.746093	B	0.26041	0.14	B	0.17433	0.018	T	0.42361	-0.9456	10	0.11794	T	0.64	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	487	P0C1S8	WEE2_HUMAN	Q	487	ENSP00000380675:R487Q	ENSP00000380675:R487Q	R	+	2	0	WEE2	141073640	0.998000	0.40836	0.713000	0.30519	0.072000	0.16883	8.097000	0.89539	2.788000	0.95919	0.650000	0.86243	CGG		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		55	72	0	0	0	1	0	55	72				
EXOC7	23265	broad.mit.edu	37	17	74087307	74087307	+	Missense_Mutation	SNP	C	C	T	rs377387637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74087307C>T	ENST00000335146.7	-	7	871	c.818G>A	c.(817-819)cGt>cAt	p.R273H	EXOC7_ENST00000405575.4_Missense_Mutation_p.R273H|EXOC7_ENST00000607838.1_Missense_Mutation_p.R273H|EXOC7_ENST00000467929.2_Missense_Mutation_p.R232H|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Missense_Mutation_p.R273H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	273					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGAGCCTTACGGATCGTCCC	0.537																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(817-819)cGt>cAt		exocyst complex component 7		C	HIS/ARG,HIS/ARG,,HIS/ARG,	0,4406		0,0,2203	160.0	134.0	143.0		818,818,,818,	4.8	1.0	17		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,intron	EXOC7	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3	29,29,,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging,	273/685,273/736,,273/708,	74087307	1,13005	2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74087307C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.818G>A	17.37:g.74087307C>T	ENSP00000334100:p.Arg273His					EXOC7_ENST00000335146.7_Missense_Mutation_p.R273H|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000467929.2_Missense_Mutation_p.R232H|EXOC7_ENST00000405575.4_Missense_Mutation_p.R273H|EXOC7_ENST00000589210.1_Missense_Mutation_p.R273H	p.R273H	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	912	-			273					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.818G>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360983	0.61403	0.0	1.16E-4	ENSG00000182473	ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372	.	.	.	5.81	4.85	0.62838	Cullin repeat-like-containing domain (1);	0.056395	0.64402	D	0.000001	T	0.62974	0.2472	L	0.32530	0.975	0.80722	D	1	B;B;D;D;P	0.71674	0.006;0.097;0.994;0.998;0.862	B;B;P;P;B	0.61592	0.013;0.012;0.784;0.891;0.309	T	0.62803	-0.6777	9	0.39692	T	0.17	-9.6376	14.8603	0.70376	0.0:0.9312:0.0:0.0688	.	273;232;232;273;273	Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-1	.;.;.;EXOC7_HUMAN;.	H	273;273;273;232	.	ENSP00000334100:R273H	R	-	2	0	EXOC7	71598902	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.298000	0.78815	1.461000	0.47929	-0.136000	0.14681	CGT		0.537	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		34	55	0	0	0	1	0	34	55				
GREM2	64388	broad.mit.edu	37	1	240656719	240656719	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240656719C>T	ENST00000318160.4	-	2	323	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	19					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCCGGGCTTCCGCCACCTTCA	0.617																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(55-57)gcG>gcA		gremlin 2, DAN family BMP antagonist							11.0	13.0	12.0					1																	240656719		2173	4257	6430	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656719C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.57G>A	1.37:g.240656719C>T							p.A19A	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	323	-		all_cancers(173;0.0196)	19					Q86UD9	Silent	SNP	ENST00000318160.4	37	c.57G>A	CCDS31070.1																																																																																				0.617	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		8	14	0	0	0	1	0	8	14				
XPO6	23214	broad.mit.edu	37	16	28117489	28117489	+	Missense_Mutation	SNP	G	G	A	rs368314934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28117489G>A	ENST00000304658.5	-	20	3159	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	XPO6_ENST00000565698.1_Missense_Mutation_p.R873W	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	887					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCACCACCCGGCAGCCTGTG	0.597																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2659-2661)Cgg>Tgg		exportin 6		G	TRP/ARG	0,3980		0,0,1990	49.0	57.0	54.0		2659	4.7	1.0	16		54	1,8337		0,1,4168	no	missense	XPO6	NM_015171.2	101	0,1,6158	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	887/1126	28117489	1,12317	1990	4169	6159	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28117489G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2659C>T	16.37:g.28117489G>A	ENSP00000302790:p.Arg887Trp					XPO6_ENST00000565698.1_Missense_Mutation_p.R873W	p.R887W	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			20	3159	-			887					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2659C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737200	0.69304	0.0	1.2E-4	ENSG00000169180	ENST00000304658	T	0.67698	-0.28	5.64	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.120552	0.56097	D	0.000038	T	0.65585	0.2705	L	0.29908	0.895	0.47547	D	0.999455	D;D	0.76494	0.998;0.999	P;P	0.53185	0.634;0.72	T	0.69723	-0.5068	10	0.66056	D	0.02	-22.0509	13.8322	0.63389	0.0:0.0:0.8457:0.1543	.	887;887	B7ZM10;Q96QU8	.;XPO6_HUMAN	W	887	ENSP00000302790:R887W	ENSP00000302790:R887W	R	-	1	2	XPO6	28024990	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.634000	0.54302	1.485000	0.48380	0.561000	0.74099	CGG		0.597	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		13	23	0	0	0	1	0	13	23				
FAM155A	728215	broad.mit.edu	37	13	108518288	108518288	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108518288C>T	ENST00000375915.2	-	1	795	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGTAAAAATCCGACAAGTTCC	0.577																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(655-657)tcG>tcA		family with sequence similarity 155, member A							88.0	98.0	95.0					13																	108518288		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518288C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.657G>A	13.37:g.108518288C>T							p.S219S	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	795	-			219					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.657G>A	CCDS32006.1																																																																																				0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		28	39	0	0	0	1	0	28	39				
BUB1B	701	broad.mit.edu	37	15	40512938	40512938	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40512938C>A	ENST00000287598.6	+	23	3326	c.3131C>A	c.(3130-3132)cCt>cAt	p.P1044H	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000453867.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.P1058H	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1044	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTAACTAGTCCTGGGGCTTTG	0.453			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(3130-3132)cCt>cAt		BUB1 mitotic checkpoint serine/threonine kinase B							96.0	92.0	94.0					15																	40512938		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512938C>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.3131C>A	15.37:g.40512938C>A	ENSP00000287598:p.Pro1044His					BUB1B_ENST00000412359.3_Missense_Mutation_p.P1058H|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000453867.1_Intron	p.P1044H	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3326	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1044			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.3131C>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250815	0.59212	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14893	2.47;2.47	5.12	4.18	0.49190	.	0.338236	0.27554	N	0.018856	T	0.15219	0.0367	N	0.22421	0.69	0.20563	N	0.999885	D	0.58620	0.983	P	0.49708	0.62	T	0.06215	-1.0839	10	0.87932	D	0	-7.4085	6.8998	0.24277	0.0:0.7299:0.1785:0.0916	.	1044	O60566	BUB1B_HUMAN	H	1044;1058;927	ENSP00000287598:P1044H;ENSP00000398470:P1058H	ENSP00000287598:P1044H	P	+	2	0	BUB1B	38300230	0.739000	0.28196	0.789000	0.31954	0.960000	0.62799	0.632000	0.24583	1.344000	0.45657	0.655000	0.94253	CCT		0.453	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			19	72	1	0	5.35267e-07	1	5.59292e-07	19	72				
LRRC37A6P	387646	broad.mit.edu	37	10	27538280	27538280	+	lincRNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27538280A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GCTGAGCCCGACCCTTGTCTG	0.512																																						ENST00000574842.1																			0																				131.0	110.0	117.0					10																	27538280		692	1591	2283			0							g.chr10:27538280A>G																													10.37:g.27538280A>G						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.512	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			52	80	0	0	0	1	0	52	80				
CXXC1	30827	broad.mit.edu	37	18	47812603	47812603	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47812603C>T	ENST00000285106.6	-	4	962	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CXXC1_ENST00000589940.1_Missense_Mutation_p.R83H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R83H|CXXC1_ENST00000587396.1_5'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GTGCCGATAGCGAATCTCTAG	0.577																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(247-249)cGc>cAc		CXXC finger protein 1							122.0	128.0	126.0					18																	47812603		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812603C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.248G>A	18.37:g.47812603C>T	ENSP00000285106:p.Arg83His					CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Missense_Mutation_p.R83H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R83H	p.R83H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			4	962	-			83					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.248G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351250	0.41700	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.63913	-0.07;-0.07	4.03	3.14	0.36123	Zinc finger, FYVE/PHD-type (1);	0.071047	0.56097	D	0.000029	T	0.52645	0.1747	N	0.14661	0.345	0.35154	D	0.770023	D;D;P;P	0.76494	0.999;0.968;0.883;0.703	P;B;B;B	0.57101	0.813;0.375;0.386;0.215	T	0.63024	-0.6729	10	0.62326	D	0.03	-13.3628	5.6605	0.17667	0.0:0.7686:0.0:0.2314	.	83;83;83;83	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	83	ENSP00000285106:R83H;ENSP00000390475:R83H	ENSP00000285106:R83H	R	-	2	0	CXXC1	46066601	0.996000	0.38824	0.999000	0.59377	0.638000	0.38207	3.301000	0.51842	1.996000	0.58369	0.442000	0.29010	CGC		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		41	64	0	0	0	1	0	41	64				
HIVEP2	3097	broad.mit.edu	37	6	143081568	143081568	+	Missense_Mutation	SNP	C	C	T	rs376862866		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143081568C>T	ENST00000367604.1	-	8	6496	c.5857G>A	c.(5857-5859)Gta>Ata	p.V1953I	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V1953I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1953					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTGGGGTACGGCGCCAACA	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21052	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5857-5859)Gta>Ata		human immunodeficiency virus type I enhancer binding protein 2		C	ILE/VAL	1,3901		0,1,1950	98.0	96.0	97.0		5857	5.2	0.6	6		97	0,8266		0,0,4133	no	missense	HIVEP2	NM_006734.3	29	0,1,6083	TT,TC,CC		0.0,0.0256,0.0082	benign	1953/2447	143081568	1,12167	1951	4133	6084	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081568C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5857G>A	6.37:g.143081568C>T	ENSP00000356576:p.Val1953Ile					HIVEP2_ENST00000367604.1_Missense_Mutation_p.V1953I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1953I	p.V1953I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6599	-			1953					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5857G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741492	0.30865	2.56E-4	0.0	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02280	4.36;4.36;4.36	6.05	5.18	0.71444	.	0.216683	0.46758	D	0.000277	T	0.00666	0.0022	N	0.14661	0.345	0.26308	N	0.977865	B	0.28880	0.226	B	0.22753	0.041	T	0.49513	-0.8932	10	0.27082	T	0.32	-9.5347	15.2738	0.73726	0.0:0.933:0.0:0.067	.	1953	P31629	ZEP2_HUMAN	I	1953	ENSP00000356576:V1953I;ENSP00000356575:V1953I;ENSP00000012134:V1953I	ENSP00000012134:V1953I	V	-	1	0	HIVEP2	143123261	0.924000	0.31332	0.591000	0.28745	0.958000	0.62258	1.934000	0.40163	1.556000	0.49512	0.650000	0.86243	GTA		0.478	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			13	38	0	0	0	1	0	13	38				
ADAM18	8749	broad.mit.edu	37	8	39525700	39525700	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:39525700A>G	ENST00000265707.5	+	14	1555	c.1510A>G	c.(1510-1512)Aag>Gag	p.K504E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.K480E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	504	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCAGTGTGCCAAGATATTTGG	0.383																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1510-1512)Aag>Gag		ADAM metallopeptidase domain 18							186.0	161.0	169.0					8																	39525700		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525700A>G	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1510A>G	8.37:g.39525700A>G	ENSP00000265707:p.Lys504Glu					ADAM18_ENST00000379866.1_Missense_Mutation_p.K480E|ADAM18_ENST00000541111.1_5'UTR	p.K504E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1555	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	504			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1510A>G	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	0.511	-0.866299	0.02590	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.21031	2.03;2.03	5.5	-1.11	0.09840	ADAM, cysteine-rich (2);	1.198870	0.05948	N	0.638239	T	0.06645	0.0170	N	0.04148	-0.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.003;0.006	T	0.30765	-0.9967	10	0.02654	T	1	.	1.0368	0.01550	0.426:0.1817:0.2548:0.1375	.	480;504	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	E	504;480;436	ENSP00000265707:K504E;ENSP00000369195:K480E	ENSP00000265707:K504E	K	+	1	0	ADAM18	39644857	0.000000	0.05858	0.019000	0.16419	0.890000	0.51754	-1.262000	0.02852	-0.077000	0.12752	0.454000	0.30748	AAG		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		44	79	0	0	0	1	0	44	79				
LPIN3	64900	broad.mit.edu	37	20	39986551	39986551	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:39986551C>T	ENST00000373257.3	+	17	2160	c.2069C>T	c.(2068-2070)gCg>gTg	p.A690V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	690	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TACTGCTCGGCGCGGGCCATT	0.617																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2068-2070)gCg>gTg		lipin 3							48.0	53.0	51.0					20																	39986551		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39986551C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2069C>T	20.37:g.39986551C>T	ENSP00000362354:p.Ala690Val						p.A690V	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			17	2160	+		Myeloproliferative disorder(115;0.000739)	690			C-LIP.		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.2069C>T	CCDS33469.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.510212|5.510212	0.96386|0.96386	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000373257;ENST00000373259|ENST00000445975	T|.	0.78126|.	-1.15|.	5.37|5.37	5.37|5.37	0.77165|0.77165	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86678|0.86678	0.5990|0.5990	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.994;1.0|.	D|D	0.89778|0.89778	0.3959|0.3959	9|5	.|.	.|.	.|.	-17.9613|-17.9613	19.1228|19.1228	0.93371|0.93371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	691;690|.	Q9BQK8-2;Q9BQK8|.	.;LPIN3_HUMAN|.	V|C	690;323|180	ENSP00000362354:A690V|.	.|.	A|R	+|+	2|1	0|0	LPIN3|LPIN3	39419965|39419965	1.000000|1.000000	0.71417|0.71417	0.273000|0.273000	0.24645|0.24645	0.939000|0.939000	0.58152|0.58152	5.773000|5.773000	0.68898|0.68898	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.617	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		21	24	0	0	0	1	0	21	24				
ZNF302	55900	broad.mit.edu	37	19	35175305	35175305	+	Silent	SNP	C	C	T	rs375164167		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35175305C>T	ENST00000446502.2	+	6	703	c.495C>T	c.(493-495)tgC>tgT	p.C165C	ZNF302_ENST00000505242.1_Silent_p.C121C|ZNF302_ENST00000457781.2_Silent_p.C121C|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000423823.2_Silent_p.C121C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATACAGAATGCGACACATTTA	0.303																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(361-363)tgC>tgT		zinc finger protein 302		C	,	1,4201		0,1,2100	35.0	37.0	36.0		363,363	-0.1	0.0	19		36	0,8476		0,0,4238	no	coding-synonymous,coding-synonymous	ZNF302	NM_001012320.1,NM_018443.2	,	0,1,6338	TT,TC,CC		0.0,0.0238,0.0079	,	121/400,121/400	35175305	1,12677	2101	4238	6339	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175305C>T	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.495C>T	19.37:g.35175305C>T						ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000423823.2_Silent_p.C121C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000457781.2_Silent_p.C121C|ZNF302_ENST00000446502.2_Silent_p.C165C	p.C121C			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	857	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		200					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.363C>T																																																																																					0.303	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			10	12	0	0	0	1	0	10	12				
PDS5B	23047	broad.mit.edu	37	13	33261280	33261280	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:33261280C>T	ENST00000315596.10	+	12	1399	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	405					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R405C(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GTGGAGAGTACGCAAAGAAGC	0.333																																						ENST00000315596.10																			1	Substitution - Missense(1)	p.R405C(1)	prostate(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1213-1215)Cgc>Tgc		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							118.0	121.0	120.0					13																	33261280		1811	4075	5886	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33261280C>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1213C>T	13.37:g.33261280C>T	ENSP00000313851:p.Arg405Cys						p.R405C	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	12	1399	+		Lung SC(185;0.0367)	405					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1213C>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942189	0.73672	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.80033	-1.33	5.55	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86963	0.2093	10	0.87932	D	0	-6.186	6.8698	0.24115	0.3597:0.5504:0.0:0.0899	.	405;405	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	C	405	ENSP00000313851:R405C	ENSP00000313851:R405C	R	+	1	0	PDS5B	32159280	1.000000	0.71417	0.938000	0.37757	0.997000	0.91878	4.786000	0.62425	1.486000	0.48398	0.655000	0.94253	CGC		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		32	122	0	0	0	1	0	32	122				
TLN1	7094	broad.mit.edu	37	9	35703882	35703882	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35703882C>T	ENST00000314888.9	-	47	6600	c.6247G>A	c.(6247-6249)Gca>Aca	p.A2083T	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.A1977T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2083					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTCACTGCGTTGATTAGT	0.537																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6247-6249)Gca>Aca		talin 1							156.0	141.0	146.0					9																	35703882		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35703882C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6247G>A	9.37:g.35703882C>T	ENSP00000316029:p.Ala2083Thr					TLN1_ENST00000540444.1_Missense_Mutation_p.A1977T|TLN1_ENST00000464379.1_5'UTR	p.A2083T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		47	6600	-	all_epithelial(49;0.167)		2083					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6247G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625205	0.87560	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13089	2.62;2.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	T	0.50841	-0.8780	10	0.87932	D	0	-9.2616	18.2524	0.90007	0.0:1.0:0.0:0.0	.	2083	Q9Y490	TLN1_HUMAN	T	2083;1977	ENSP00000316029:A2083T;ENSP00000442981:A1977T	ENSP00000316029:A2083T	A	-	1	0	TLN1	35693882	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.926000	0.63433	2.317000	0.78254	0.561000	0.74099	GCA		0.537	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	67	0	0	0	1	0	8	67				
MIB1	57534	broad.mit.edu	37	18	19348668	19348668	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19348668C>T	ENST00000261537.6	+	3	750	c.486C>T	c.(484-486)gaC>gaT	p.D162D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	162	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAGGAGTGGACTGGCAGTGGG	0.413																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(484-486)gaC>gaT		mindbomb E3 ubiquitin protein ligase 1							78.0	75.0	76.0					18																	19348668		2203	4300	6503	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19348668C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.486C>T	18.37:g.19348668C>T						MIB1_ENST00000578646.1_3'UTR	p.D162D	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		3	750	+			162			MIB/HERC2 2.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.486C>T	CCDS11871.1																																																																																				0.413	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		4	10	0	0	0	1	0	4	10				
ITGA10	8515	broad.mit.edu	37	1	145533526	145533526	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145533526C>A	ENST00000369304.3	+	12	1584	c.1409C>A	c.(1408-1410)gCt>gAt	p.A470D	ITGA10_ENST00000539363.1_Missense_Mutation_p.A327D|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1408-1410)gCt>gAt		integrin, alpha 10							41.0	44.0	43.0					1																	145533526		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533526C>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1409C>A	1.37:g.145533526C>A	ENSP00000358310:p.Ala470Asp					ITGA10_ENST00000538811.1_Missense_Mutation_p.A339D|ITGA10_ENST00000539363.1_Missense_Mutation_p.A327D	p.A470D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		470					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1409C>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102650	0.06967	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11604	2.76;2.76;2.76	4.74	3.82	0.43975	.	0.641636	0.15726	N	0.247676	T	0.00784	0.0026	N	0.00778	-1.195	0.28295	N	0.923351	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.47509	-0.9112	10	0.11182	T	0.66	.	5.9143	0.19045	0.0:0.6985:0.1957:0.1059	.	436;339;327;470	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	D	470;436;327;339	ENSP00000358310:A470D;ENSP00000439894:A327D;ENSP00000440011:A339D	ENSP00000358310:A470D	A	+	2	0	ITGA10	144244883	0.008000	0.16893	1.000000	0.80357	0.998000	0.95712	0.760000	0.26475	1.201000	0.43203	0.655000	0.94253	GCT		0.587	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		6	35	1	0	2.7689e-08	1	2.91998e-08	6	35				
KIAA1211L	343990	broad.mit.edu	37	2	99454682	99454682	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99454682A>G	ENST00000397899.2	-	3	470	c.139T>C	c.(139-141)Tcg>Ccg	p.S47P	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	47																	CCTGTGGACGACGGCGATTCT	0.403																																						ENST00000397899.2																			0											c.(139-141)Tcg>Ccg		KIAA1211-like							115.0	107.0	109.0					2																	99454682		1971	4151	6122	SO:0001583	missense	343990							g.chr2:99454682A>G	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.139T>C	2.37:g.99454682A>G	ENSP00000380996:p.Ser47Pro					KIAA1211L_ENST00000462314.1_5'UTR	p.S47P	NM_207362.2	NP_997245.2					3	470	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.139T>C	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464021	0.43736	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.46819	0.86	5.53	1.75	0.24633	.	0.167758	0.28971	N	0.013555	T	0.36635	0.0974	L	0.51422	1.61	0.09310	N	1	B	0.25390	0.125	B	0.26202	0.067	T	0.35001	-0.9806	10	0.72032	D	0.01	-8.1046	4.5054	0.11885	0.6804:0.1273:0.0699:0.1223	.	47	Q6NV74	CB055_HUMAN	P	47;75;61;61	ENSP00000380996:S47P	ENSP00000380996:S47P	S	-	1	0	C2orf55	98821114	0.004000	0.15560	0.051000	0.19133	0.702000	0.40608	0.028000	0.13644	1.072000	0.40860	0.533000	0.62120	TCG		0.403	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		6	33	0	0	0	1	0	6	33				
PYGB	5834	broad.mit.edu	37	20	25259028	25259028	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25259028G>A	ENST00000216962.4	+	8	1039	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	310					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GACATCATCCGCCGCTTCAAG	0.607																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(928-930)cGc>cAc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						83.0	77.0	79.0					20																	25259028		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259028G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.929G>A	20.37:g.25259028G>A	ENSP00000216962:p.Arg310His						p.R310H	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			8	1039	+			310					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.929G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916622	0.92249	.	.	ENSG00000100994	ENST00000216962	D	0.94497	-3.44	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.88377	2.95	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.97772	1.0227	10	0.59425	D	0.04	-24.528	15.4242	0.75038	0.0:0.0:1.0:0.0	.	310	P11216	PYGB_HUMAN	H	310	ENSP00000216962:R310H	ENSP00000216962:R310H	R	+	2	0	PYGB	25207028	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.378000	0.97191	2.027000	0.59764	0.462000	0.41574	CGC		0.607	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		9	22	0	0	0	1	0	9	22				
TBC1D14	57533	broad.mit.edu	37	4	7026873	7026873	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7026873G>A	ENST00000409757.4	+	13	2024	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	TBC1D14_ENST00000448507.1_Missense_Mutation_p.D634N|TBC1D14_ENST00000410031.1_Missense_Mutation_p.D406N|TBC1D14_ENST00000446947.2_Missense_Mutation_p.D281N|TBC1D14_ENST00000451522.2_Missense_Mutation_p.D354N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	634					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GACCAAGATGGACTTCATTCA	0.602																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1900-1902)Gac>Aac		TBC1 domain family, member 14							142.0	115.0	124.0					4																	7026873		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7026873G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1900G>A	4.37:g.7026873G>A	ENSP00000386921:p.Asp634Asn					TBC1D14_ENST00000451522.2_Missense_Mutation_p.D354N|TBC1D14_ENST00000410031.1_Missense_Mutation_p.D406N|TBC1D14_ENST00000446947.2_Missense_Mutation_p.D281N|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D634N	p.D634N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			13	2024	+			634					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1900G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811405	0.90707	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.15	5.15	0.70609	Rab-GAP/TBC domain (2);	0.051134	0.85682	D	0.000000	T	0.52500	0.1738	M	0.78049	2.395	0.80722	D	1	D;B;B	0.59357	0.985;0.389;0.243	P;B;B	0.57846	0.828;0.202;0.119	T	0.52064	-0.8625	10	0.35671	T	0.21	-28.1889	17.6366	0.88124	0.0:0.0:1.0:0.0	.	281;354;634	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	N	634;634;406;354;281	ENSP00000404041:D634N;ENSP00000386921:D634N;ENSP00000386343:D406N;ENSP00000388886:D354N;ENSP00000405875:D281N	ENSP00000386921:D634N	D	+	1	0	TBC1D14	7077774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.409000	0.81822	0.561000	0.74099	GAC		0.602	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		35	41	0	0	0	1	0	35	41				
LGR4	55366	broad.mit.edu	37	11	27390171	27390171	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27390171T>C	ENST00000379214.4	-	18	2542	c.2099A>G	c.(2098-2100)gAa>gGa	p.E700G	LGR4_ENST00000389858.4_Missense_Mutation_p.E676G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	700					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGATGGCGTTTCACCTGTAGG	0.408																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2098-2100)gAa>gGa		leucine-rich repeat containing G protein-coupled receptor 4							96.0	88.0	91.0					11																	27390171		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390171T>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2099A>G	11.37:g.27390171T>C	ENSP00000368516:p.Glu700Gly					LGR4_ENST00000389858.4_Missense_Mutation_p.E676G	p.E700G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2542	-			700					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2099A>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	8.340	0.828421	0.16749	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.37411	1.2;1.2	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.313517	0.35013	N	0.003520	T	0.33440	0.0863	N	0.25485	0.75	0.80722	D	1	B;P	0.43938	0.009;0.822	B;P	0.45753	0.018;0.492	T	0.05784	-1.0864	10	0.35671	T	0.21	.	15.4736	0.75458	0.0:0.0:0.0:1.0	.	676;700	G5E9B3;Q9BXB1	.;LGR4_HUMAN	G	700;676	ENSP00000368516:E700G;ENSP00000374508:E676G	ENSP00000368516:E700G	E	-	2	0	LGR4	27346747	1.000000	0.71417	0.667000	0.29798	0.249000	0.25844	3.810000	0.55613	2.060000	0.61445	0.454000	0.30748	GAA		0.408	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		30	40	0	0	0	1	0	30	40				
SRRT	51593	broad.mit.edu	37	7	100483353	100483353	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100483353T>C	ENST00000347433.4	+	11	1507	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	SRRT_ENST00000388793.4_Missense_Mutation_p.V449A|SRRT_ENST00000432932.1_Missense_Mutation_p.V449A|SRRT_ENST00000457580.2_Missense_Mutation_p.V450A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	450					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTTATGCGGGTGGCGCTCTCA	0.547																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1345-1347)gTg>gCg		serrate RNA effector molecule homolog (Arabidopsis)							84.0	74.0	77.0					7																	100483353		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483353T>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1349T>C	7.37:g.100483353T>C	ENSP00000314491:p.Val450Ala					SRRT_ENST00000347433.4_Missense_Mutation_p.V450A|SRRT_ENST00000457580.2_Missense_Mutation_p.V450A|SRRT_ENST00000432932.1_Missense_Mutation_p.V449A	p.V449A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			11	1566	+			450					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1346T>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	t	28.1	4.893565	0.91889	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.75085	2.285	0.80722	D	1	P;D;D;D	0.61697	0.663;0.99;0.99;0.984	B;D;D;D	0.73380	0.257;0.98;0.98;0.956	T	0.69351	-0.5168	10	0.54805	T	0.06	.	12.7202	0.57137	0.0:0.0:0.0:1.0	.	449;449;450;450	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	A	450;449;449;450;80	ENSP00000416553:V450A;ENSP00000373445:V449A;ENSP00000391852:V449A;ENSP00000314491:V450A	ENSP00000314491:V450A	V	+	2	0	SRRT	100321289	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.213000	0.65230	2.098000	0.63641	0.524000	0.50904	GTG		0.547	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		6	10	0	0	0	1	0	6	10				
HOOK2	29911	broad.mit.edu	37	19	12875650	12875650	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12875650C>T	ENST00000397668.3	-	20	1878	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R600H	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	602	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTCCACGTAGCGGCGGTATCG	0.607											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1798-1800)cGc>cAc		hook microtubule-tethering protein 2							82.0	86.0	85.0					19																	12875650		2073	4205	6278	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875650C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1805G>A	19.37:g.12875650C>T	ENSP00000380785:p.Arg602His		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.R602H	p.R600H	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1969	-			602			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1799G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663963	0.67700	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19532	2.14;2.14	5.39	4.32	0.51571	.	0.173721	0.49305	N	0.000148	T	0.40670	0.1126	M	0.61703	1.905	0.33179	D	0.549249	D;D	0.76494	0.999;0.999	D;D	0.67231	0.917;0.95	T	0.57063	-0.7875	10	0.66056	D	0.02	-5.6957	12.1547	0.54070	0.0:0.9096:0.0:0.0904	.	600;602	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	H	602;600	ENSP00000380785:R602H;ENSP00000264827:R600H	ENSP00000264827:R600H	R	-	2	0	HOOK2	12736650	1.000000	0.71417	0.999000	0.59377	0.665000	0.39181	2.180000	0.42537	1.192000	0.43071	-0.355000	0.07637	CGC		0.607	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		26	56	0	0	0	1	0	26	56				
TRRAP	8295	broad.mit.edu	37	7	98565172	98565172	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98565172C>T	ENST00000359863.4	+	50	7551	c.7342C>T	c.(7342-7344)Cgc>Tgc	p.R2448C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2430C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2430C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2448					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTGGGCTGCGCTGTGCCCA	0.542																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7342-7344)Cgc>Tgc		transformation/transcription domain-associated protein							81.0	73.0	76.0					7																	98565172		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98565172C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7342C>T	7.37:g.98565172C>T	ENSP00000352925:p.Arg2448Cys					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2430C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2430C	p.R2448C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7551	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2448					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7342C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443112	0.83993	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.04603	3.59;3.6	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	M	0.71206	2.165	0.80722	D	1	D;P;P	0.89917	1.0;0.855;0.928	D;B;B	0.71414	0.973;0.108;0.146	T	0.00002	-1.2624	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2430;2169;2448	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2448;2430;2429	ENSP00000352925:R2448C;ENSP00000347733:R2430C	ENSP00000347733:R2430C	R	+	1	0	TRRAP	98403108	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		27	44	0	0	0	1	0	27	44				
NANS	54187	broad.mit.edu	37	9	100823218	100823218	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100823218G>T	ENST00000210444.5	+	2	357	c.287G>T	c.(286-288)aGg>aTg	p.R96M		NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	96					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GACCAGTACAGGGAGCTGCAG	0.547																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(286-288)aGg>aTg		N-acetylneuraminic acid synthase							208.0	191.0	196.0					9																	100823218		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100823218G>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.287G>T	9.37:g.100823218G>T	ENSP00000210444:p.Arg96Met						p.R96M	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			2	357	+		Acute lymphoblastic leukemia(62;0.0559)	96					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.287G>T	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026670	0.75390	.	.	ENSG00000095380	ENST00000210444	T	0.45276	0.9	5.73	-1.94	0.07571	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.360832	0.33272	N	0.005086	T	0.49779	0.1577	M	0.71581	2.175	0.32219	N	0.575556	P	0.45531	0.86	P	0.53062	0.717	T	0.58983	-0.7539	10	0.34782	T	0.22	-2.2476	12.3854	0.55328	0.3059:0.0:0.6941:0.0	.	96	Q9NR45	SIAS_HUMAN	M	96	ENSP00000210444:R96M	ENSP00000210444:R96M	R	+	2	0	NANS	99863039	0.245000	0.23899	0.392000	0.26245	0.971000	0.66376	0.088000	0.14979	-0.526000	0.06383	0.655000	0.94253	AGG		0.547	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		25	43	1	0	1.37878e-21	1	1.53209e-21	25	43				
AQP12A	375318	broad.mit.edu	37	2	241631739	241631739	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241631739G>A	ENST00000337801.4	+	2	441	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Silent_p.E136E	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	124						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTGGGAGCTCAGTGACC	0.706																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(406-408)gaG>gaA		aquaporin 12A							15.0	22.0	20.0					2																	241631739		2053	4247	6300	SO:0001819	synonymous_variant	375318					integral to membrane	transporter activity	g.chr2:241631739G>A	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.372G>A	2.37:g.241631739G>A						AQP12A_ENST00000337801.4_Silent_p.E124E	p.E136E			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	471	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	124						Silent	SNP	ENST00000337801.4	37	c.408G>A																																																																																					0.706	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		10	6	0	0	0	1	0	10	6				
NELL2	4753	broad.mit.edu	37	12	45000983	45000983	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45000983T>C	ENST00000429094.2	-	15	2136	c.1632A>G	c.(1630-1632)ccA>ccG	p.P544P	NELL2_ENST00000437801.2_Silent_p.P594P|NELL2_ENST00000549027.1_Silent_p.P543P|NELL2_ENST00000551601.1_Silent_p.P543P|NELL2_ENST00000452445.2_Silent_p.P544P|NELL2_ENST00000333837.4_Silent_p.P567P|NELL2_ENST00000395487.2_Silent_p.P543P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	544	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAAGCCTTGTGGGCAGGCAC	0.393																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1630-1632)ccA>ccG		NEL-like 2 (chicken)							82.0	79.0	80.0					12																	45000983		2203	4299	6502	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000983T>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1632A>G	12.37:g.45000983T>C						NELL2_ENST00000452445.2_Silent_p.P544P|NELL2_ENST00000437801.2_Silent_p.P594P|NELL2_ENST00000395487.2_Silent_p.P543P|NELL2_ENST00000333837.4_Silent_p.P567P|NELL2_ENST00000549027.1_Silent_p.P543P|NELL2_ENST00000551601.1_Silent_p.P543P	p.P544P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2136	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	544			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1632A>G	CCDS8746.1																																																																																				0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		16	22	0	0	0	1	0	16	22				
KRT6B	3854	broad.mit.edu	37	12	52844401	52844401	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52844401G>A	ENST00000252252.3	-	2	591	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	182	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.R182W(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTAGGAACCGCACCTGGAGG	0.557																																						ENST00000252252.3																			1	Substitution - Missense(1)	p.R182W(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(544-546)Cgg>Tgg		keratin 6B							68.0	80.0	76.0					12																	52844401		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52844401G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.544C>T	12.37:g.52844401G>A	ENSP00000252252:p.Arg182Trp						p.R182W	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	2	591	-			182			Coil 1A.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.544C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241580	0.79912	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.92595	-3.07	2.85	2.85	0.33270	Filament (1);	0.000000	0.56097	D	0.000035	D	0.96525	0.8866	M	0.91920	3.255	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97371	0.9976	10	0.72032	D	0.01	.	14.9532	0.71091	0.0:0.0:1.0:0.0	.	182	P04259	K2C6B_HUMAN	W	182	ENSP00000252252:R182W	ENSP00000252252:R182W	R	-	1	2	KRT6B	51130668	0.999000	0.42202	0.980000	0.43619	0.939000	0.58152	3.052000	0.49893	1.918000	0.55548	0.454000	0.30748	CGG		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		9	56	0	0	0	1	0	9	56				
INTS5	80789	broad.mit.edu	37	11	62417235	62417235	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62417235G>T	ENST00000330574.2	-	2	369	c.317C>A	c.(316-318)cCt>cAt	p.P106H	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	106					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGGGTGGAGGTGGACGGAG	0.597																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(316-318)cCt>cAt		integrator complex subunit 5							116.0	123.0	121.0					11																	62417235		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417235G>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.317C>A	11.37:g.62417235G>T	ENSP00000327889:p.Pro106His					RP11-831H9.11_ENST00000528405.1_3'UTR	p.P106H	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	369	-			106					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.317C>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934222	0.34096	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.61	3.7	0.42460	.	0.205916	0.32736	N	0.005719	T	0.34308	0.0893	N	0.22421	0.69	0.29093	N	0.881978	B	0.30664	0.289	B	0.40329	0.326	T	0.34428	-0.9829	9	0.42905	T	0.14	.	10.3799	0.44106	0.0957:0.0:0.9043:0.0	.	106	Q6P9B9	INT5_HUMAN	H	106	.	ENSP00000327889:P106H	P	-	2	0	INTS5	62173811	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	1.846000	0.39289	1.172000	0.42781	0.561000	0.74099	CCT		0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		35	53	1	0	1.26612e-14	1	1.38261e-14	35	53				
BCKDK	10295	broad.mit.edu	37	16	31122645	31122645	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31122645C>T	ENST00000394951.1	+	11	1493	c.870C>T	c.(868-870)gaC>gaT	p.D290D	BCKDK_ENST00000394950.3_Silent_p.D290D|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.D290D|BCKDK_ENST00000287507.3_Intron			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	290	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GTCACCTAGACACTCCCTACA	0.547																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(868-870)gaC>gaT		branched chain ketoacid dehydrogenase kinase							166.0	131.0	143.0					16																	31122645		2197	4300	6497	SO:0001819	synonymous_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122645C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.870C>T	16.37:g.31122645C>T						BCKDK_ENST00000394950.3_Silent_p.D290D|BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000219794.6_Silent_p.D290D	p.D290D			O14874	BCKD_HUMAN			11	1493	+			290			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.870C>T	CCDS10705.1																																																																																				0.547	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		16	21	0	0	0	1	0	16	21				
POU6F1	5463	broad.mit.edu	37	12	51584091	51584091	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51584091A>T	ENST00000389243.4	-	11	1784	c.845T>A	c.(844-846)tTc>tAc	p.F282Y	POU6F1_ENST00000550824.1_Missense_Mutation_p.F282Y|POU6F1_ENST00000333640.10_Missense_Mutation_p.F282Y			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	282					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCGATTGCAGAACCAGACCCG	0.537																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(844-846)tTc>tAc		POU class 6 homeobox 1							106.0	94.0	98.0					12																	51584091		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584091A>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.845T>A	12.37:g.51584091A>T	ENSP00000373895:p.Phe282Tyr					POU6F1_ENST00000333640.10_Missense_Mutation_p.F282Y|POU6F1_ENST00000550824.1_Missense_Mutation_p.F282Y	p.F282Y			Q14863	PO6F1_HUMAN			11	1784	-			282					Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.845T>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	A	33	5.249973	0.95305	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.99719	-6.52;-6.52;-6.52	5.28	5.28	0.74379	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.85859	2.78	0.80722	D	1	P	0.43750	0.816	P	0.62813	0.907	D	0.97075	0.9780	10	0.87932	D	0	.	14.2007	0.65703	1.0:0.0:0.0:0.0	.	282	Q14863	PO6F1_HUMAN	Y	282	ENSP00000373895:F282Y;ENSP00000330190:F282Y;ENSP00000448389:F282Y	ENSP00000330190:F282Y	F	-	2	0	POU6F1	49870358	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.225000	0.95219	2.001000	0.58596	0.459000	0.35465	TTC		0.537	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		26	45	0	0	0	1	0	26	45				
UBP1	7342	broad.mit.edu	37	3	33450268	33450268	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33450268C>T	ENST00000283629.3	-	8	1370	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	UBP1_ENST00000283628.5_Missense_Mutation_p.E281K|UBP1_ENST00000447368.2_Intron|UBP1_ENST00000486388.1_5'Flank	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	281					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ACTGCATCTTCAATTATAGGC	0.438																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(841-843)Gaa>Aaa		upstream binding protein 1 (LBP-1a)							114.0	110.0	111.0					3																	33450268		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450268C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.841G>A	3.37:g.33450268C>T	ENSP00000283629:p.Glu281Lys					UBP1_ENST00000283628.5_Missense_Mutation_p.E281K|UBP1_ENST00000447368.2_Intron	p.E281K	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			8	1370	-			281					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.841G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079081	0.76528	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17854	2.25;2.25	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.02705	-1.1121	10	0.06891	T	0.86	-19.3702	18.8331	0.92150	0.0:1.0:0.0:0.0	.	281	Q9NZI7	UBIP1_HUMAN	K	281	ENSP00000283629:E281K;ENSP00000283628:E281K	ENSP00000283628:E281K	E	-	1	0	UBP1	33425272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.985000	0.76193	2.890000	0.99128	0.585000	0.79938	GAA		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		31	67	0	0	0	1	0	31	67				
PDLIM7	9260	broad.mit.edu	37	5	176911074	176911074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176911074G>A	ENST00000355841.2	-	11	1234	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.R356*|PDLIM7_ENST00000505746.1_5'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	390	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGTACCTCGCTCGCAATAG	0.587																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(1168-1170)Cga>Tga		PDZ and LIM domain 7 (enigma)							98.0	84.0	89.0					5																	176911074		2203	4300	6503	SO:0001587	stop_gained	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176911074G>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1168C>T	5.37:g.176911074G>A	ENSP00000348099:p.Arg390*					PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.R356*	p.R390*	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1234	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	390			LIM zinc-binding 2.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Nonsense_Mutation	SNP	ENST00000355841.2	37	c.1168C>T	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978593	0.74360	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	.	.	.	5.48	2.36	0.29203	.	0.371965	0.17956	N	0.156355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.7132	0.57102	0.0:0.0:0.5012:0.4988	.	.	.	.	X	356;390	.	ENSP00000348099:R390X	R	-	1	2	PDLIM7	176843680	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.418000	0.44662	1.294000	0.44707	0.485000	0.47835	CGA		0.587	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		11	20	0	0	0	1	0	11	20				
SF3B4	10262	broad.mit.edu	37	1	149898267	149898267	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149898267C>T	ENST00000271628.8	-	3	1291		c.e3+1		MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAAAGCTTTACCTGGTGGAGG	0.512																																						ENST00000271628.8																			0				endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.e3+1		splicing factor 3b, subunit 4, 49kDa							43.0	43.0	43.0					1																	149898267		2203	4300	6503	SO:0001630	splice_region_variant	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898267C>T	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.706+1G>A	1.37:g.149898267C>T								NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	1291	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							Q5SZ63	Splice_Site	SNP	ENST00000271628.8	37		CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664473	0.67700	.	.	ENSG00000143368	ENST00000271628	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3753	0.66869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF3B4	148164891	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.655000	0.74392	2.379000	0.81126	0.643000	0.83706	.		0.512	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850	Intron	18	14	0	0	0	1	0	18	14				
HTR3C	170572	broad.mit.edu	37	3	183772516	183772516	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183772516C>T	ENST00000318351.1	+	2	109	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	25					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TAGGAAGAGGCGACGCTTTTA	0.512																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(73-75)ggC>ggT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							111.0	106.0	108.0					3																	183772516		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183772516C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.75C>T	3.37:g.183772516C>T							p.G25G	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	109	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		25					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.75C>T	CCDS3250.1																																																																																				0.512	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		26	40	0	0	0	1	0	26	40				
ADAMTS20	80070	broad.mit.edu	37	12	43826457	43826457	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43826457G>A	ENST00000389420.3	-	20	2877	c.2878C>T	c.(2878-2880)Cta>Tta	p.L960L	ADAMTS20_ENST00000395541.2_Silent_p.L114L|ADAMTS20_ENST00000553158.1_Silent_p.L960L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	960	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCATGGCATAGTTCTTGGGTA	0.398																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2878-2880)Cta>Tta		ADAM metallopeptidase with thrombospondin type 1 motif, 20							150.0	131.0	137.0					12																	43826457		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826457G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2878C>T	12.37:g.43826457G>A						ADAMTS20_ENST00000395541.2_Silent_p.L114L|ADAMTS20_ENST00000553158.1_Silent_p.L960L	p.L960L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2877	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	960			TSP type-1 3.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.2878C>T	CCDS31778.2																																																																																				0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		20	30	0	0	0	1	0	20	30				
RASA2	5922	broad.mit.edu	37	3	141290329	141290329	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:141290329C>T	ENST00000452898.1	+	11	1137	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	RASA2_ENST00000286364.3_Silent_p.L368L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	368	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTACGACTGCTGCTGCACCA	0.368																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(1102-1104)Ctg>Ttg		RAS p21 protein activator 2							198.0	188.0	191.0					3																	141290329		2203	4300	6503	SO:0001819	synonymous_variant	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141290329C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1102C>T	3.37:g.141290329C>T						RASA2_ENST00000452898.1_Silent_p.L368L	p.L368L			Q15283	RASA2_HUMAN			11	1137	+			368			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37	c.1102C>T																																																																																					0.368	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		41	75	0	0	0	1	0	41	75				
PIGO	84720	broad.mit.edu	37	9	35091339	35091339	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35091339G>A	ENST00000378617.3	-	7	2939	c.2545C>T	c.(2545-2547)Ctg>Ttg	p.L849L	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.L849L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	849					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCATGCAACAGCAGAAGTGGG	0.562																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2545-2547)Ctg>Ttg		phosphatidylinositol glycan anchor biosynthesis, class O							100.0	90.0	94.0					9																	35091339		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091339G>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2545C>T	9.37:g.35091339G>A						PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.L849L	p.L849L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2939	-			849					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.2545C>T	CCDS6575.1																																																																																				0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		4	8	0	0	0	1	0	4	8				
GAPDH	2597	broad.mit.edu	37	12	6645760	6645760	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6645760G>A	ENST00000229239.5	+	3	795		c.e3+1		GAPDH_ENST00000396856.1_Splice_Site|GAPDH_ENST00000396859.1_Splice_Site|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Splice_Site|GAPDH_ENST00000396858.1_Splice_Site	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase						carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CAACTACATGGTGAGTGCTAC	0.522																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.e3+1		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						127.0	124.0	125.0					12																	6645760		2203	4300	6503	SO:0001630	splice_region_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6645760G>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.129+1G>A	12.37:g.6645760G>A						GAPDH_ENST00000396861.1_Splice_Site|GAPDH_ENST00000396858.1_Splice_Site|GAPDH_ENST00000396856.1_Splice_Site|GAPDH_ENST00000396859.1_Splice_Site		NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			3	795	+								E7EUT4|P00354|Q53X65	Splice_Site	SNP	ENST00000229239.5	37		CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873537	0.91664	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396861;ENST00000396859;ENST00000396858	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.229	0.89928	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAPDH	6516021	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.156000	0.94705	2.299000	0.77371	0.561000	0.74099	.		0.522	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046	Intron	40	59	0	0	0	1	0	40	59				
RUVBL2	10856	broad.mit.edu	37	19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(253-255)cGc>cAc		RuvB-like AAA ATPase 2							36.0	40.0	39.0					19																	49510398		1939	4129	6068	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510398G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	19.37:g.49510398G>A	ENSP00000473172:p.Arg130His					RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	p.R85H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	1402	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	130					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.254G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			22	27	0	0	0	1	0	22	27				
HEATR2	54919	broad.mit.edu	37	7	825228	825228	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:825228C>T	ENST00000297440.6	+	13	2526	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836						cytoplasm (GO:0005737)		p.R836S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCACAAGCACCGCTCGGCCAC	0.607																																						ENST00000297440.6																			1	Substitution - Missense(1)	p.R836S(1)	ovary(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(2506-2508)Cgc>Tgc		HEAT repeat containing 2							74.0	72.0	72.0					7																	825228		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:825228C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2506C>T	7.37:g.825228C>T	ENSP00000297440:p.Arg836Cys					HEATR2_ENST00000403952.3_Missense_Mutation_p.R261C|HEATR2_ENST00000313147.5_Intron	p.R836C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	13	2526	+		Ovarian(82;0.0112)	836					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.2506C>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.737334|3.737334	0.69304|0.69304	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000537862;ENST00000403952	.|T;T	.|0.67523	.|0.22;-0.27	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80727|0.80727	0.4678|0.4678	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.962;0.997	T|T	0.82963|0.82963	-0.0196|-0.0196	5|10	.|0.87932	.|D	.|0	-45.2734|-45.2734	10.6484|10.6484	0.45634|0.45634	0.1918:0.8082:0.0:0.0|0.1918:0.8082:0.0:0.0	.|.	.|836;261;582	.|Q86Y56;E9PGY2;F5H8D4	.|HEAT2_HUMAN;.;.	L|C	637|836;582;261	.|ENSP00000297440:R836C;ENSP00000384884:R261C	.|ENSP00000297440:R836C	P|R	+|+	2|1	0|0	HEATR2|HEATR2	791754|791754	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.599000|0.599000	0.36880|0.36880	2.728000|2.728000	0.47319|0.47319	2.233000|2.233000	0.73108|0.73108	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		31	46	0	0	0	1	0	31	46				
FRMD4A	55691	broad.mit.edu	37	10	13743457	13743457	+	Silent	SNP	C	C	T	rs150190257	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13743457C>T	ENST00000357447.2	-	14	1226	c.858G>A	c.(856-858)acG>acA	p.T286T	FRMD4A_ENST00000342409.2_Silent_p.T302T|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.T286T|FRMD4A_ENST00000358621.4_Silent_p.T271T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	286	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGCCCAAACGTCCTCCTTG	0.498																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(856-858)acG>acA		FERM domain containing 4A		C		1,4405	2.1+/-5.4	0,1,2202	175.0	152.0	160.0		858	-8.7	0.5	10	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FRMD4A	NM_018027.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		286/1040	13743457	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13743457C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.858G>A	10.37:g.13743457C>T						FRMD4A_ENST00000358621.4_Silent_p.T271T|FRMD4A_ENST00000342409.2_Silent_p.T302T|FRMD4A_ENST00000378503.1_Silent_p.T286T|FRMD4A_ENST00000492155.1_5'UTR	p.T286T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			14	1226	-			286			FERM.		A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.858G>A	CCDS7101.1																																																																																				0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		21	39	0	0	0	1	0	21	39				
CUL7	9820	broad.mit.edu	37	6	43010619	43010619	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43010619G>A	ENST00000265348.3	-	19	3651	c.3566C>T	c.(3565-3567)cCt>cTt	p.P1189L	CUL7_ENST00000535468.1_Missense_Mutation_p.P1273L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1189					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTGCCCGAGGCCCAAACAG	0.527																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3817-3819)cCt>cTt		cullin 7							48.0	45.0	46.0					6																	43010619		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010619G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3566C>T	6.37:g.43010619G>A	ENSP00000265348:p.Pro1189Leu					CUL7_ENST00000265348.3_Missense_Mutation_p.P1189L	p.P1273L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		19	3904	-			1189					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3818C>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011669	0.75046	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.74002	-0.8;-0.8	5.59	5.59	0.84812	Cullin, N-terminal (1);	0.114186	0.64402	D	0.000013	T	0.79100	0.4389	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.64830	0.949;0.979;0.989;0.994	P;P;D;D	0.69479	0.738;0.83;0.964;0.95	T	0.81219	-0.1032	10	0.72032	D	0.01	-12.2985	12.6677	0.56851	0.0:0.0:0.7239:0.2761	.	1273;1189;1273;1189	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	L	1189;1273	ENSP00000265348:P1189L;ENSP00000438788:P1273L	ENSP00000265348:P1189L	P	-	2	0	CUL7	43118597	1.000000	0.71417	0.972000	0.41901	0.633000	0.38033	6.545000	0.73883	2.632000	0.89209	0.579000	0.79373	CCT		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		4	24	0	0	0	1	0	4	24				
RPL10L	140801	broad.mit.edu	37	14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:47120929C>T	ENST00000298283.3	-	1	99	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(10-12)cGt>cAt		ribosomal protein L10-like							67.0	71.0	70.0					14																	47120929		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120929C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.11G>A	14.37:g.47120929C>T	ENSP00000298283:p.Arg4His						p.R4H	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	99	-			4					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.11G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768815	0.31320	.	.	ENSG00000165496	ENST00000298283	T	0.77877	-1.13	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	T	0.81749	0.4888	M	0.92691	3.335	0.58432	D	0.999999	B	0.12630	0.006	B	0.08055	0.003	T	0.82348	-0.0502	10	0.66056	D	0.02	-25.8262	12.6152	0.56573	0.0:1.0:0.0:0.0	.	4	Q96L21	RL10L_HUMAN	H	4	ENSP00000298283:R4H	ENSP00000298283:R4H	R	-	2	0	RPL10L	46190679	0.990000	0.36364	0.972000	0.41901	0.223000	0.24884	3.208000	0.51114	2.688000	0.91661	0.655000	0.94253	CGT		0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			23	50	0	0	0	1	0	23	50				
PKNOX2	63876	broad.mit.edu	37	11	125221244	125221244	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125221244G>A	ENST00000298282.9	+	4	314	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_5'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	15					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GACGATGATGGCCACGCAGAA	0.647																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(43-45)Gcc>Acc		PBX/knotted 1 homeobox 2							36.0	41.0	39.0					11																	125221244		2095	4222	6317	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125221244G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.43G>A	11.37:g.125221244G>A	ENSP00000298282:p.Ala15Thr					PKNOX2_ENST00000542175.1_5'UTR|PKNOX2_ENST00000530517.1_Intron	p.A15T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	4	314	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	15					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.43G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.037058	0.54896	.	.	ENSG00000165495	ENST00000298282;ENST00000527238;ENST00000531212;ENST00000535518	T;T	0.48522	0.81;0.81	5.61	4.69	0.59074	.	0.061993	0.64402	D	0.000005	T	0.32793	0.0841	L	0.27053	0.805	0.80722	D	1	P	0.41673	0.759	B	0.33960	0.173	T	0.07849	-1.0751	10	0.31617	T	0.26	-13.0424	15.4991	0.75680	0.0:0.1392:0.8608:0.0	.	15	Q96KN3	PKNX2_HUMAN	T	15;15;15;3	ENSP00000298282:A15T;ENSP00000434255:A15T	ENSP00000298282:A15T	A	+	1	0	PKNOX2	124726454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.960000	0.76036	1.339000	0.45563	0.651000	0.88453	GCC		0.647	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			3	5	0	0	0	1	0	3	5				
CCDC42	146849	broad.mit.edu	37	17	8647479	8647479	+	Missense_Mutation	SNP	G	G	A	rs143164438		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8647479G>A	ENST00000293845.3	-	2	333	c.107C>T	c.(106-108)gCg>gTg	p.A36V	CCDC42_ENST00000539522.2_Missense_Mutation_p.A36V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	36										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGACTCCGACGCCCCCTCAAC	0.547																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(106-108)gCg>gTg		coiled-coil domain containing 42		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	112.0	96.0	102.0		107,107	3.3	0.1	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCDC42	NM_001158261.1,NM_144681.2	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	36/243,36/317	8647479	2,13004	2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647479G>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.107C>T	17.37:g.8647479G>A	ENSP00000293845:p.Ala36Val					CCDC42_ENST00000539522.2_Missense_Mutation_p.A36V	p.A36V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			2	333	-			36					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.107C>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	5.054	0.195598	0.09599	0.0	2.33E-4	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24908	1.83;1.86	4.35	3.26	0.37387	.	0.473178	0.19958	N	0.102278	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.13407	0.009	T	0.18967	-1.0320	10	0.33141	T	0.24	-16.7151	9.4924	0.38967	0.0:0.0:0.1798:0.8202	.	36	Q96M95	CCD42_HUMAN	V	36	ENSP00000293845:A36V;ENSP00000444359:A36V	ENSP00000293845:A36V	A	-	2	0	CCDC42	8588204	0.100000	0.21855	0.146000	0.22360	0.001000	0.01503	2.319000	0.43788	0.816000	0.34421	-0.280000	0.10049	GCG		0.547	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		19	44	0	0	0	1	0	19	44				
PCDHB15	56121	broad.mit.edu	37	5	140627234	140627234	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140627234G>A	ENST00000231173.3	+	1	2088	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	696					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGGCCTCGGTGTCTTCGC	0.677																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2086-2088)tcG>tcA									99.0	102.0	101.0					5																	140627234		2202	4298	6500	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627234G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2088G>A	5.37:g.140627234G>A							p.S696S	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2088	+			696					Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2088G>A	CCDS4257.1																																																																																				0.677	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		49	59	0	0	0	1	0	49	59				
WDR46	9277	broad.mit.edu	37	6	33248658	33248658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33248658C>T	ENST00000374617.4	-	11	1578	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	408							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGGGAGAAGGCCAGGTGCCCT	0.637																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1222-1224)Gcc>Acc		WD repeat domain 46							70.0	74.0	72.0					6																	33248658		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33248658C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1222G>A	6.37:g.33248658C>T	ENSP00000363746:p.Ala408Thr					B3GALT4_ENST00000606990.1_Intron	p.A408T	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			11	1578	-			408					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.1222G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754294	0.15778	.	.	ENSG00000227057	ENST00000374617	T	0.01464	4.86	5.39	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.227314	0.45867	N	0.000324	T	0.00637	0.0021	L	0.39397	1.21	0.35964	D	0.83483	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.47699	-0.9097	10	0.15499	T	0.54	-12.0178	7.1188	0.25431	0.1686:0.7455:0.0:0.0859	.	354;408	B4DP15;O15213	.;WDR46_HUMAN	T	408	ENSP00000363746:A408T	ENSP00000363746:A408T	A	-	1	0	WDR46	33356636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.517000	0.35867	1.486000	0.48398	0.549000	0.68633	GCC		0.637	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		13	36	0	0	0	1	0	13	36				
APOC1	341	broad.mit.edu	37	19	45419502	45419502	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45419502G>T	ENST00000588750.1	+	4	439	c.114G>T	c.(112-114)aaG>aaT	p.K38N	APOC1_ENST00000586638.1_Missense_Mutation_p.K38N|APOC1_ENST00000588802.1_Missense_Mutation_p.K38N|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000592885.1_Missense_Mutation_p.K38N|APOC1_ENST00000252491.4_Missense_Mutation_p.K38N			P02654	APOC1_HUMAN	apolipoprotein C-I	38					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		ATAAGCTGAAGGAGTTTGGAA	0.532																																						ENST00000588750.1																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(112-114)aaG>aaT		apolipoprotein C-I							78.0	75.0	76.0					19																	45419502		2203	4300	6503	SO:0001583	missense	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45419502G>T	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.114G>T	19.37:g.45419502G>T	ENSP00000465356:p.Lys38Asn					APOC1_ENST00000586638.1_Missense_Mutation_p.K38N|APOC1_ENST00000252491.4_Missense_Mutation_p.K38N|APOC1_ENST00000588802.1_Missense_Mutation_p.K38N|APOC1_ENST00000592885.1_Missense_Mutation_p.K38N|APOC1_ENST00000589781.1_Intron	p.K38N			P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	439	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	38					B2R526|Q6IB97	Missense_Mutation	SNP	ENST00000588750.1	37	c.114G>T	CCDS12648.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386374	0.61956	.	.	ENSG00000130208	ENST00000252491	T	0.55234	0.53	4.26	3.19	0.36642	.	0.000000	0.45361	D	0.000368	T	0.66665	0.2812	.	.	.	0.28298	N	0.923235	D	0.89917	1.0	D	0.77557	0.99	T	0.59679	-0.7409	9	0.59425	D	0.04	-22.9895	8.511	0.33217	0.1093:0.0:0.8907:0.0	.	38	P02654	APOC1_HUMAN	N	38	ENSP00000252491:K38N	ENSP00000252491:K38N	K	+	3	2	APOC1	50111342	0.055000	0.20627	0.273000	0.24645	0.303000	0.27691	0.722000	0.25925	1.123000	0.41961	0.555000	0.69702	AAG		0.532	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			15	29	1	0	3.8784e-16	1	4.25337e-16	15	29				
HELB	92797	broad.mit.edu	37	12	66717800	66717800	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66717800A>G	ENST00000247815.4	+	10	2394	c.2335A>G	c.(2335-2337)Aaa>Gaa	p.K779E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	779					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATTGGTGATAAAATTTGTTG	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2335-2337)Aaa>Gaa		helicase (DNA) B							140.0	155.0	150.0					12																	66717800		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66717800A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2335A>G	12.37:g.66717800A>G	ENSP00000247815:p.Lys779Glu						p.K779E	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	10	2394	+			779					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2335A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567016	0.65651	.	.	ENSG00000127311	ENST00000247815	T	0.31769	1.48	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	H	0.95079	3.62	0.44289	D	0.997153	D	0.89917	1.0	D	0.91635	0.999	T	0.78745	-0.2084	9	.	.	.	-34.5693	15.0446	0.71816	1.0:0.0:0.0:0.0	.	779	Q8NG08	HELB_HUMAN	E	779	ENSP00000247815:K779E	.	K	+	1	0	HELB	65004067	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.724000	0.74747	2.075000	0.62263	0.533000	0.62120	AAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			24	52	0	0	0	1	0	24	52				
PPP1R11	6992	broad.mit.edu	37	6	30036976	30036976	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30036976C>T	ENST00000376772.3	+	3	597	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	PPP1R11_ENST00000376758.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376765.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R40C	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	92						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						ACACTGTGTACGTGGCCACCG	0.607																																					Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(274-276)Cgt>Tgt		protein phosphatase 1, regulatory (inhibitor) subunit 11							79.0	84.0	82.0					6																	30036976		1511	2708	4219	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036976C>T	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.274C>T	6.37:g.30036976C>T	ENSP00000365963:p.Arg92Cys					PPP1R11_ENST00000376765.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376758.1_Missense_Mutation_p.R40C|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R40C|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R40C	p.R92C	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	597	+			92						Missense_Mutation	SNP	ENST00000376772.3	37	c.274C>T	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891288	0.72524	.	.	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.4	4.51	0.55191	.	0.128544	0.53938	D	0.000051	T	0.30386	0.0763	L	0.27053	0.805	0.58432	D	0.999999	D	0.63880	0.993	P	0.47470	0.548	T	0.27872	-1.0061	9	0.87932	D	0	-12.9765	9.3234	0.37977	0.0:0.8955:0.0:0.1045	.	92	O60927	PP1RB_HUMAN	C	40;92;40;40;40;40	.	ENSP00000365949:R40C	R	+	1	0	PPP1R11	30144955	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.999000	0.70665	1.204000	0.43247	0.549000	0.68633	CGT		0.607	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		15	28	0	0	0	1	0	15	28				
BTG3	10950	broad.mit.edu	37	21	18966550	18966550	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:18966550G>T	ENST00000348354.6	-	5	876	c.620C>A	c.(619-621)cCt>cAt	p.P207H	BTG3_ENST00000339775.6_Missense_Mutation_p.P251H	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	207					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TGGAACAGGAGGAGGATAGTG	0.448																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(751-753)cCt>cAt		BTG family, member 3							144.0	127.0	133.0					21																	18966550		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966550G>T	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.620C>A	21.37:g.18966550G>T	ENSP00000284879:p.Pro207His					BTG3_ENST00000348354.6_Missense_Mutation_p.P207H	p.P251H	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	905	-			207					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.752C>A	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687070	0.14973	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.27	4.27	0.50696	.	0.250491	0.31909	N	0.006863	T	0.48021	0.1477	L	0.29908	0.895	0.27301	N	0.95758	D;D	0.89917	1.0;0.998	D;D	0.77557	0.971;0.99	T	0.28106	-1.0054	9	0.22706	T	0.39	-8.4952	12.4973	0.55935	0.0:0.0:1.0:0.0	.	251;207	Q14201-2;Q14201	.;BTG3_HUMAN	H	251;207	.	ENSP00000344609:P251H	P	-	2	0	BTG3	17888421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.169000	0.58223	2.668000	0.90789	0.591000	0.81541	CCT		0.448	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		12	25	1	0	0.000219431	1	0.000224427	12	25				
OSBP2	23762	broad.mit.edu	37	22	31266435	31266435	+	Silent	SNP	C	C	T	rs191090393	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31266435C>T	ENST00000332585.6	+	3	977	c.873C>T	c.(871-873)gaC>gaT	p.D291D	OSBP2_ENST00000437268.2_Silent_p.D33D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.D126D|OSBP2_ENST00000446658.2_Silent_p.D291D|OSBP2_ENST00000407373.1_Silent_p.D118D|OSBP2_ENST00000382310.3_Silent_p.D291D	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	291					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGACGACGACGAGGCTACCA	0.557													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19176	0.001		0.0	False		,,,				2504	0.0					ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(871-873)gaC>gaT		oxysterol binding protein 2							61.0	65.0	64.0					22																	31266435		2111	4228	6339	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31266435C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.873C>T	22.37:g.31266435C>T						OSBP2_ENST00000382310.3_Silent_p.D291D|OSBP2_ENST00000407373.1_Silent_p.D118D|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.D126D|OSBP2_ENST00000446658.2_Silent_p.D291D|OSBP2_ENST00000437268.2_Silent_p.D33D	p.D291D	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			3	977	+			291					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.873C>T	CCDS43002.1																																																																																				0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		7	18	0	0	0	1	0	7	18				
AVPR1B	553	broad.mit.edu	37	1	206225087	206225087	+	Missense_Mutation	SNP	C	C	T	rs200893536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206225087C>T	ENST00000367126.4	+	1	1112	c.647C>T	c.(646-648)aCg>aTg	p.T216M	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	216					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCATGCTCACGGCCTGCTAC	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16735	0.001		0.001	False		,,,				2504	0.0					ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(646-648)aCg>aTg		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						53.0	53.0	53.0					1																	206225087		2199	4296	6495	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206225087C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.647C>T	1.37:g.206225087C>T	ENSP00000356094:p.Thr216Met						p.T216M	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	1112	+			216					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.647C>T	CCDS30994.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.49	1.365873	0.24684	.	.	ENSG00000198049	ENST00000367126	T	0.72394	-0.65	5.66	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.249318	0.35555	N	0.003130	T	0.63260	0.2496	L	0.48877	1.53	0.32970	D	0.522166	B	0.30193	0.272	B	0.33521	0.165	T	0.70360	-0.4893	10	0.40728	T	0.16	-9.6728	10.6495	0.45640	0.0:0.7689:0.0:0.2311	.	216	P47901	V1BR_HUMAN	M	216	ENSP00000356094:T216M	ENSP00000356094:T216M	T	+	2	0	AVPR1B	204391710	0.825000	0.29262	0.926000	0.36857	0.754000	0.42855	1.556000	0.36288	1.396000	0.46663	0.563000	0.77884	ACG		0.612	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		37	36	0	0	0	1	0	37	36				
FAM47C	442444	broad.mit.edu	37	X	37028326	37028326	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37028326G>A	ENST00000358047.3	+	1	1895	c.1843G>A	c.(1843-1845)Gta>Ata	p.V615I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	615										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.652																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1843-1845)Gta>Ata		family with sequence similarity 47, member C							26.0	29.0	28.0					X																	37028326		2197	4291	6488	SO:0001583	missense	442444							g.chrX:37028326G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1843G>A	X.37:g.37028326G>A	ENSP00000367913:p.Val615Ile						p.V615I	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1895	+			615					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1843G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	12.06	1.823209	0.32237	.	.	ENSG00000198173	ENST00000358047	T	0.18502	2.21	1.64	-2.13	0.07144	.	.	.	.	.	T	0.19886	0.0478	M	0.77820	2.39	0.09310	N	1	D	0.59767	0.986	P	0.48400	0.576	T	0.15122	-1.0448	9	0.36615	T	0.2	.	0.3159	0.00295	0.207:0.2511:0.2892:0.2528	.	615	Q5HY64	FA47C_HUMAN	I	615	ENSP00000367913:V615I	ENSP00000367913:V615I	V	+	1	0	FAM47C	36938247	0.153000	0.22777	0.000000	0.03702	0.001000	0.01503	1.418000	0.34782	-0.137000	0.11455	0.366000	0.22137	GTA		0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		58	6	0	0	0	1	0	58	6				
DUOX1	53905	broad.mit.edu	37	15	45427302	45427302	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45427302G>A	ENST00000321429.4	+	6	715	c.308G>A	c.(307-309)gGc>gAc	p.G103D	DUOX1_ENST00000389037.3_Splice_Site_p.G103D	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	103	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCCCGCAGGCTATCACGTG	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.e6-1		dual oxidase 1							48.0	48.0	48.0					15																	45427302		2198	4298	6496	SO:0001630	splice_region_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427302G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.308-1G>A	15.37:g.45427302G>A						DUOX1_ENST00000389037.3_Splice_Site_p.G103_splice	p.G103_splice	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	715	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	103			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Splice_Site	SNP	ENST00000321429.4	37	c.307_splice	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472423	0.63737	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.80304	-1.36;-1.36	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94470	0.7684	9	.	.	.	.	13.9519	0.64123	0.0:0.0:1.0:0.0	.	103	Q9NRD9	DUOX1_HUMAN	D	103	ENSP00000317997:G103D;ENSP00000373689:G103D	.	G	+	2	0	DUOX1	43214594	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.612000	0.98347	2.205000	0.71048	0.644000	0.83932	GGC		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	Missense_Mutation	14	18	0	0	0	1	0	14	18				
PCF11	51585	broad.mit.edu	37	11	82879713	82879713	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82879713G>A	ENST00000298281.4	+	8	2788	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	779	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTAAGCCCTCGAATTGATGGA	0.502																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(2335-2337)cGa>cAa		PCF11 cleavage and polyadenylation factor subunit							95.0	90.0	92.0					11																	82879713		1882	4114	5996	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82879713G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2336G>A	11.37:g.82879713G>A	ENSP00000298281:p.Arg779Gln						p.R779Q	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	2788	+			779			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2336G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137163	0.77775	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.59638	1.61;0.43;0.25	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.60104	0.2243	L	0.38531	1.155	0.42832	D	0.994027	D;D	0.61697	0.99;0.99	P;P	0.50049	0.629;0.629	T	0.54022	-0.8355	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	910;779	E9PQ01;O94913	.;PCF11_HUMAN	Q	779;910;779	ENSP00000298281:R779Q;ENSP00000434540:R910Q;ENSP00000431567:R779Q	.	R	+	2	0	PCF11	82557361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.102000	0.77005	2.937000	0.99478	0.650000	0.86243	CGA		0.502	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		16	28	0	0	0	1	0	16	28				
CELA1	1990	broad.mit.edu	37	12	51735033	51735033	+	Missense_Mutation	SNP	G	G	A	rs570590429		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51735033G>A	ENST00000293636.1	-	5	498	c.458C>T	c.(457-459)aCc>aTc	p.T153I		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	153	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTTACTCTTGGTCTTGCCCCA	0.522											OREG0021819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(457-459)aCc>aTc		chymotrypsin-like elastase family, member 1							193.0	149.0	164.0					12																	51735033		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51735033G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.458C>T	12.37:g.51735033G>A	ENSP00000293636:p.Thr153Ile		OREG0021819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	979		p.T153I	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			5	498	-			153			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.458C>T	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935931	0.73442	.	.	ENSG00000139610	ENST00000293636	D	0.94232	-3.38	5.12	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	D	0.76575	0.988	D	0.90955	0.4808	10	0.29301	T	0.29	-26.8044	12.3182	0.54969	0.0843:0.0:0.9157:0.0	.	153	Q9UNI1	CELA1_HUMAN	I	153	ENSP00000293636:T153I	ENSP00000293636:T153I	T	-	2	0	CELA1	50021300	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	3.247000	0.51422	2.568000	0.86640	0.549000	0.68633	ACC		0.522	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		27	29	0	0	0	1	0	27	29				
RICTOR	253260	broad.mit.edu	37	5	38952304	38952304	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38952304G>A	ENST00000357387.3	-	30	3151	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P1041S|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACTCGATGGCACAGATTCA	0.333																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3121-3123)Cca>Tca		RPTOR independent companion of MTOR, complex 2							95.0	90.0	92.0					5																	38952304		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38952304G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3121C>T	5.37:g.38952304G>A	ENSP00000349959:p.Pro1041Ser					RICTOR_ENST00000296782.5_Missense_Mutation_p.P1041S	p.P1041S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			30	3151	-	all_lung(31;0.000396)		1041			Ser-rich.			Missense_Mutation	SNP	ENST00000357387.3	37	c.3121C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078321	0.76528	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.50813	0.73;0.73	5.66	5.66	0.87406	.	0.046195	0.85682	D	0.000000	T	0.45776	0.1359	L	0.43152	1.355	0.54753	D	0.999985	B;B	0.25609	0.13;0.13	B;B	0.21917	0.037;0.037	T	0.40701	-0.9549	10	0.87932	D	0	-12.0021	19.757	0.96298	0.0:0.0:1.0:0.0	.	1041;1041	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1041	ENSP00000349959:P1041S;ENSP00000296782:P1041S	ENSP00000296782:P1041S	P	-	1	0	RICTOR	38988061	1.000000	0.71417	0.972000	0.41901	0.691000	0.40173	7.715000	0.84713	2.678000	0.91216	0.460000	0.39030	CCA		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	42	0	0	0	1	0	4	42				
NELL1	4745	broad.mit.edu	37	11	21592318	21592318	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:21592318G>T	ENST00000357134.5	+	18	2141	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N	NELL1_ENST00000298925.5_Missense_Mutation_p.K691N|NELL1_ENST00000325319.5_Missense_Mutation_p.K606N|NELL1_ENST00000532434.1_Missense_Mutation_p.K616N|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	663					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATGGCAAGATATTCTGCC	0.433																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2071-2073)aaG>aaT		NEL-like 1 (chicken)							114.0	105.0	108.0					11																	21592318		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21592318G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1989G>T	11.37:g.21592318G>T	ENSP00000349654:p.Lys663Asn					NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.K606N|NELL1_ENST00000532434.1_Missense_Mutation_p.K616N|NELL1_ENST00000357134.5_Missense_Mutation_p.K663N	p.K691N			Q92832	NELL1_HUMAN			19	2226	+			663					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2073G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768860	0.49680	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79845	-1.31;-1.28;-1.21;-0.14	6.16	5.25	0.73442	.	0.185979	0.47093	D	0.000245	T	0.66752	0.2821	N	0.19112	0.55	0.43308	D	0.995313	P;P;P;B;P	0.44734	0.763;0.651;0.842;0.409;0.651	B;B;B;B;B	0.40329	0.229;0.115;0.326;0.189;0.115	T	0.64888	-0.6301	10	0.27785	T	0.31	-25.8576	11.1945	0.48704	0.1862:0.0:0.8138:0.0	.	606;691;208;616;663	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	N	691;663;606;616	ENSP00000298925:K691N;ENSP00000349654:K663N;ENSP00000317837:K606N;ENSP00000437170:K616N	ENSP00000298925:K691N	K	+	3	2	NELL1	21548894	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.644000	0.46613	2.937000	0.99478	0.650000	0.86243	AAG		0.433	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		22	26	1	0	9.86323e-18	1	1.08645e-17	22	26				
LMAN1L	79748	broad.mit.edu	37	15	75117858	75117858	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75117858G>A	ENST00000309664.5	+	14	1632	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G486D|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	498						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCACAGGCAGCCTTCCT	0.587																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1492-1494)gGc>gAc		lectin, mannose-binding, 1 like							136.0	143.0	141.0					15																	75117858		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75117858G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1493G>A	15.37:g.75117858G>A	ENSP00000310431:p.Gly498Asp					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G486D	p.G498D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			14	1632	+			498					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1493G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230441	0.05983	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.44083	0.98;0.93	3.79	1.58	0.23477	.	1.360560	0.05009	N	0.470623	T	0.41650	0.1168	L	0.42245	1.32	0.09310	N	1	P;P	0.40180	0.705;0.58	B;B	0.44044	0.439;0.254	T	0.34950	-0.9808	10	0.52906	T	0.07	.	6.4249	0.21764	0.2572:0.0:0.7428:0.0	.	486;498	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	D	498;486	ENSP00000310431:G498D;ENSP00000369031:G486D	ENSP00000310431:G498D	G	+	2	0	LMAN1L	72904911	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.437000	0.21543	0.423000	0.26033	0.561000	0.74099	GGC		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			45	107	0	0	0	1	0	45	107				
HECTD4	283450	broad.mit.edu	37	12	112622183	112622183	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622183C>T	ENST00000430131.2	-	60	10466	c.9321G>A	c.(9319-9321)gcG>gcA	p.A3107A	HECTD4_ENST00000550722.1_Silent_p.A3383A|HECTD4_ENST00000377560.5_Silent_p.A3357A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3107					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCTGGACACCGCGTGGGGCT	0.687																																						ENST00000550722.1																			0											c.(10147-10149)gcG>gcA		HECT domain containing E3 ubiquitin protein ligase 4							16.0	21.0	19.0					12																	112622183		2056	4213	6269	SO:0001819	synonymous_variant	283450							g.chr12:112622183C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9321G>A	12.37:g.112622183C>T						HECTD4_ENST00000377560.5_Silent_p.A3357A|HECTD4_ENST00000430131.2_Silent_p.A3107A	p.A3383A	NM_001109662.3	NP_001103132.3					61	10544	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10149G>A																																																																																					0.687	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	8	0	0	0	1	0	5	8				
SHANK2	22941	broad.mit.edu	37	11	70333465	70333465	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70333465C>T	ENST00000423696.2	-	15	1832	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SHANK2_ENST00000409161.1_Missense_Mutation_p.R382H|SHANK2_ENST00000338508.4_Missense_Mutation_p.R979H|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	599					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTCTTGTTGCGGAAGTTGGC	0.597																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2935-2937)cGc>cAc		SH3 and multiple ankyrin repeat domains 2							112.0	116.0	115.0					11																	70333465		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333465C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1796G>A	11.37:g.70333465C>T	ENSP00000394536:p.Arg599His					SHANK2_ENST00000423696.2_Missense_Mutation_p.R599H|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383H|SHANK2_ENST00000409161.1_Missense_Mutation_p.R382H	p.R979H			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	2935	-			599					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2936G>A		.	.	.	.	.	.	.	.	.	.	C	15.03	2.713517	0.48517	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42900	2.23;2.23;2.95;0.96;2.37;2.38	4.85	4.85	0.62838	.	0.396381	0.27139	N	0.020747	T	0.36580	0.0972	L	0.45352	1.415	0.80722	D	1	B;B;B	0.24317	0.028;0.101;0.021	B;B;B	0.21546	0.013;0.024;0.035	T	0.24835	-1.0149	10	0.56958	D	0.05	.	13.0188	0.58773	0.1611:0.8389:0.0:0.0	.	599;978;383	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	383;382;257;979;599;617;602	ENSP00000399423:R383H;ENSP00000386491:R382H;ENSP00000402944:R257H;ENSP00000345193:R979H;ENSP00000394536:R599H;ENSP00000294018:R602H	ENSP00000294018:R602H	R	-	2	0	SHANK2	70011113	0.998000	0.40836	0.982000	0.44146	0.203000	0.24098	2.532000	0.45659	2.250000	0.74265	0.655000	0.94253	CGC		0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		42	55	0	0	0	1	0	42	55				
TRIP11	9321	broad.mit.edu	37	14	92472518	92472518	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92472518C>T	ENST00000267622.4	-	11	2175	c.1802G>A	c.(1801-1803)aGc>aAc	p.S601N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	601					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTCTGGATGCTTACATTACT	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1801-1803)aGc>aAc		thyroid hormone receptor interactor 11							102.0	100.0	101.0					14																	92472518		2202	4296	6498	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472518C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1802G>A	14.37:g.92472518C>T	ENSP00000267622:p.Ser601Asn						p.S601N	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2175	-			601					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1802G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.179718	0.00308	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04049	3.72	6.16	-2.23	0.06930	.	0.692726	0.16046	N	0.232161	T	0.01489	0.0048	N	0.00729	-1.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45789	-0.9237	10	0.11485	T	0.65	.	14.6499	0.68789	0.0:0.5559:0.0:0.4441	.	337;601	F5H1Z0;Q15643	.;TRIPB_HUMAN	N	601;337	ENSP00000267622:S601N	ENSP00000267622:S601N	S	-	2	0	TRIP11	91542271	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	-0.628000	0.05582	-0.355000	0.07637	AGC		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			14	28	0	0	0	1	0	14	28				
DHX35	60625	broad.mit.edu	37	20	37662960	37662960	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37662960G>A	ENST00000252011.3	+	21	2100	c.2067G>A	c.(2065-2067)acG>acA	p.T689T	DHX35_ENST00000373323.4_Splice_Site_p.T658T|DHX35_ENST00000373325.2_Splice_Site_p.T665T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	689					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AACAAGGAACGGTAGGAATGA	0.453																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.e21+1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							82.0	76.0	78.0					20																	37662960		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37662960G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.2067+1G>A	20.37:g.37662960G>A						DHX35_ENST00000373323.4_Splice_Site_p.T658_splice|DHX35_ENST00000373325.2_Splice_Site_p.T665_splice	p.T689_splice	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			21	2100	+		Myeloproliferative disorder(115;0.00878)	689					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37	c.2067_splice	CCDS13310.1																																																																																				0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Silent	4	22	0	0	0	1	0	4	22				
DENND6A	201627	broad.mit.edu	37	3	57631400	57631400	+	Missense_Mutation	SNP	C	C	T	rs150271072	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57631400C>T	ENST00000311128.5	-	11	1095	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	342					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCTTGGGTACGGGTAGTATA	0.333													C|||	7	0.00139776	0.0	0.0	5008	,	,		15499	0.001		0.005	False		,,,				2504	0.001					ENST00000311128.5																			0											c.(1024-1026)cGt>cAt		DENN/MADD domain containing 6A		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	99.0	99.0		1025	6.1	1.0	3	dbSNP_134	99	16,8582	11.2+/-40.8	0,16,4283	yes	missense	FAM116A	NM_152678.2	29	0,17,6485	TT,TC,CC		0.1861,0.0227,0.1307	probably-damaging	342/609	57631400	17,12987	2203	4299	6502	SO:0001583	missense	201627							g.chr3:57631400C>T	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1025G>A	3.37:g.57631400C>T	ENSP00000311401:p.Arg342His					RP11-755B10.2_ENST00000470427.1_RNA	p.R342H	NM_152678.2	NP_689891.1					11	1095	-								Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1025G>A	CCDS33773.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	31	5.076259	0.94000	2.27E-4	0.001861	ENSG00000174839	ENST00000311128	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82151	-0.0599	9	0.54805	T	0.06	-16.2511	20.2348	0.98355	0.0:1.0:0.0:0.0	.	342	Q8IWF6	F116A_HUMAN	H	342	.	ENSP00000311401:R342H	R	-	2	0	FAM116A	57606440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.110000	0.57831	2.880000	0.98712	0.650000	0.86243	CGT		0.333	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		25	31	0	0	0	1	0	25	31				
C1QTNF1	114897	broad.mit.edu	37	17	77040182	77040182	+	Silent	SNP	G	G	A	rs375199144		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77040182G>A	ENST00000339142.2	+	3	687	c.132G>A	c.(130-132)ccG>ccA	p.P44P	C1QTNF1_ENST00000581774.1_Silent_p.P44P|C1QTNF1_ENST00000580454.1_Silent_p.P44P|C1QTNF1_ENST00000579760.1_Silent_p.P44P|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000580474.1_Silent_p.P44P|C1QTNF1_ENST00000392445.2_Silent_p.P44P|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000354124.3_Silent_p.P54P|C1QTNF1_ENST00000583904.1_Silent_p.P44P	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	44					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGAGCTGCCGTCGCCTCCGG	0.677																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(130-132)ccG>ccA		C1q and tumor necrosis factor related protein 1		G	,,	0,4406		0,0,2203	41.0	36.0	38.0		132,132,	-6.1	0.0	17		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	C1QTNF1	NM_030968.2,NM_198593.2,NM_198594.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	44/282,44/282,	77040182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114897					collagen		g.chr17:77040182G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.132G>A	17.37:g.77040182G>A						C1QTNF1_ENST00000580474.1_Silent_p.P44P|C1QTNF1_ENST00000583904.1_Silent_p.P44P|C1QTNF1_ENST00000581774.1_Silent_p.P44P|C1QTNF1_ENST00000580454.1_Silent_p.P44P|C1QTNF1_ENST00000579760.1_Silent_p.P44P|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Silent_p.P44P|C1QTNF1_ENST00000354124.3_Silent_p.P54P|C1QTNF1_ENST00000311661.4_Intron	p.P44P	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		3	687	+			44					Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	c.132G>A	CCDS11761.1																																																																																				0.677	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		9	10	0	0	0	1	0	9	10				
ARHGEF17	9828	broad.mit.edu	37	11	73071497	73071497	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73071497G>A	ENST00000263674.3	+	11	4689	c.4339G>A	c.(4339-4341)Gac>Aac	p.D1447N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1447					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGAGGGCACCGACTCCTACAT	0.607																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4339-4341)Gac>Aac		Rho guanine nucleotide exchange factor (GEF) 17							113.0	126.0	122.0					11																	73071497		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73071497G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4339G>A	11.37:g.73071497G>A	ENSP00000263674:p.Asp1447Asn						p.D1447N	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			11	4689	+			1447					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.4339G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891676	0.91889	.	.	ENSG00000110237	ENST00000263674	T	0.34859	1.34	5.81	4.9	0.64082	.	0.362319	0.27284	N	0.020061	T	0.26011	0.0634	L	0.36672	1.1	0.38919	D	0.957703	P	0.44429	0.835	B	0.32805	0.153	T	0.12016	-1.0564	10	0.46703	T	0.11	-28.0956	13.8958	0.63770	0.0725:0.0:0.9275:0.0	.	1447	Q96PE2	ARHGH_HUMAN	N	1447	ENSP00000263674:D1447N	ENSP00000263674:D1447N	D	+	1	0	ARHGEF17	72749145	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.235000	0.78143	1.466000	0.48025	0.655000	0.94253	GAC		0.607	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		44	58	0	0	0	1	0	44	58				
SPTA1	6708	broad.mit.edu	37	1	158617376	158617376	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158617376C>A	ENST00000368147.4	-	27	4029	c.3849G>T	c.(3847-3849)gaG>gaT	p.E1283D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1283					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTTAGGCTCTCCTTACGAT	0.542																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3847-3849)gaG>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							132.0	133.0	132.0					1																	158617376		1984	4142	6126	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158617376C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3849G>T	1.37:g.158617376C>A	ENSP00000357129:p.Glu1283Asp					SPTA1_ENST00000368147.3_Missense_Mutation_p.E1283D	p.E1283D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			27	4029	-	all_hematologic(112;0.0378)		1283					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3849G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	4.510	0.094707	0.08681	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	4.43	-0.0439	0.13857	.	.	.	.	.	T	0.10723	0.0262	N	0.16066	0.365	0.39123	D	0.961695	B	0.14012	0.009	B	0.20184	0.028	T	0.11867	-1.0570	9	0.24483	T	0.36	.	5.2589	0.15561	0.1333:0.5262:0.2603:0.0802	.	1283	P02549	SPTA1_HUMAN	D	1283	ENSP00000357130:E1283D;ENSP00000357129:E1283D	ENSP00000357129:E1283D	E	-	3	2	SPTA1	156884000	0.996000	0.38824	0.547000	0.28179	0.234000	0.25298	0.350000	0.20079	0.192000	0.20272	-0.253000	0.11424	GAG		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	39	1	0	1.33834e-09	1	1.42249e-09	19	39				
IGSF22	283284	broad.mit.edu	37	11	18739554	18739554	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18739554G>A	ENST00000513874.1	-	9	1036	c.897C>T	c.(895-897)aaC>aaT	p.N299N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	299	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCATGTTCACGTTGCTAATAA	0.552																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(895-897)aaC>aaT		immunoglobulin superfamily, member 22							172.0	169.0	170.0					11																	18739554		2137	4250	6387	SO:0001819	synonymous_variant	283284							g.chr11:18739554G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.897C>T	11.37:g.18739554G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.N299N	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			9	1036	-			299			Ig-like 2.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.897C>T	CCDS41625.2																																																																																				0.552	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		31	36	0	0	0	1	0	31	36				
WDFY3	23001	broad.mit.edu	37	4	85731295	85731295	+	Missense_Mutation	SNP	C	C	T	rs370543988		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85731295C>T	ENST00000295888.4	-	14	2497	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.R697H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	697					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCTCATAGCGCATTGCTGC	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2089-2091)cGc>cAc		WD repeat and FYVE domain containing 3		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	95.0	96.0		2090	6.1	1.0	4		96	0,8600		0,0,4300	no	missense	WDFY3	NM_014991.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	697/3527	85731295	1,13005	2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731295C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2090G>A	4.37:g.85731295C>T	ENSP00000295888:p.Arg697His					WDFY3_ENST00000295888.4_Missense_Mutation_p.R697H|WDFY3-AS1_ENST00000510449.1_RNA	p.R697H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2497	-		Hepatocellular(203;0.114)	697					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2090G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850319	0.91277	2.27E-4	0.0	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.68181	-0.31;-0.31	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.75013	-0.3467	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	697;697	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	697	ENSP00000318466:R697H;ENSP00000295888:R697H	ENSP00000295888:R697H	R	-	2	0	WDFY3	85950319	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	2.885000	0.99019	0.655000	0.94253	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		16	44	0	0	0	1	0	16	44				
PTPRZ1	5803	broad.mit.edu	37	7	121652880	121652880	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121652880G>A	ENST00000393386.2	+	12	4191	c.3780G>A	c.(3778-3780)ttG>ttA	p.L1260L	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1260					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAAGGTTTGACCATTTCCT	0.393																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3778-3780)ttG>ttA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							111.0	111.0	111.0					7																	121652880		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652880G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3780G>A	7.37:g.121652880G>A						PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Intron	p.L1260L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	4191	+			1260					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.3780G>A	CCDS34740.1																																																																																				0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		30	60	0	0	0	1	0	30	60				
FSTL3	10272	broad.mit.edu	37	19	681555	681555	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:681555G>A	ENST00000166139.4	+	4	760	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	243	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						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)		GCGGGCAGCTGCGCAGGTGCA	0.687			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(727-729)tGc>tAc		follistatin-like 3 (secreted glycoprotein)							20.0	19.0	19.0					19																	681555		2195	4294	6489	SO:0001583	missense	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681555G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.728G>A	19.37:g.681555G>A	ENSP00000166139:p.Cys243Tyr					FSTL3_ENST00000592947.1_3'UTR	p.C243Y	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	760	+		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)	243			Kazal-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.728G>A	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023930	0.54683	.	.	ENSG00000070404	ENST00000166139	D	0.96913	-4.17	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.106981	0.64402	D	0.000003	D	0.98754	0.9581	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99331	1.0909	10	0.87932	D	0	-17.7064	14.5679	0.68191	0.0:0.0:1.0:0.0	.	243	O95633	FSTL3_HUMAN	Y	243	ENSP00000166139:C243Y	ENSP00000166139:C243Y	C	+	2	0	FSTL3	632555	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	8.922000	0.92789	2.011000	0.59026	0.462000	0.41574	TGC		0.687	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		5	17	0	0	0	1	0	5	17				
CDK5RAP2	55755	broad.mit.edu	37	9	123234070	123234070	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123234070C>T	ENST00000349780.4	-	16	1993	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R605Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	605					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						caaggtcttccgcaaattctg	0.463																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1813-1815)cGg>cAg		CDK5 regulatory subunit associated protein 2							112.0	104.0	106.0					9																	123234070		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123234070C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1814G>A	9.37:g.123234070C>T	ENSP00000343818:p.Arg605Gln					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R605Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R605Q	p.R605Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			16	1993	-			605					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1814G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177000	0.01646	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.18810	3.8;3.72;3.79;3.69;2.19	5.32	-0.0747	0.13730	.	0.604497	0.15963	N	0.236169	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20052	0.006;0.007;0.041;0.008	B;B;B;B	0.12156	0.002;0.002;0.007;0.001	T	0.36792	-0.9733	10	0.20046	T	0.44	.	7.8201	0.29282	0.0:0.5224:0.0:0.4776	.	406;605;605;605	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	Q	605;605;605;605;31;607	ENSP00000354065:R605Q;ENSP00000352258:R605Q;ENSP00000343818:R605Q;ENSP00000353317:R605Q;ENSP00000400395:R31Q	ENSP00000341695:R607Q	R	-	2	0	CDK5RAP2	122273891	0.016000	0.18221	0.010000	0.14722	0.270000	0.26580	-0.189000	0.09629	0.083000	0.17047	-0.302000	0.09304	CGG		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		21	20	0	0	0	1	0	21	20				
ARID1B	57492	broad.mit.edu	37	6	157469870	157469870	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157469870C>T	ENST00000350026.5	+	8	2626	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	ARID1B_ENST00000275248.4_Silent_p.S817S|ARID1B_ENST00000346085.5_Silent_p.S888S|ARID1B_ENST00000367148.1_Silent_p.S875S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	875					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAGGGCCAAGCCAGCCATGTG	0.592																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2662-2664)agC>agT		AT rich interactive domain 1B (SWI1-like)							114.0	102.0	106.0					6																	157469870		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469870C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2625C>T	6.37:g.157469870C>T						ARID1B_ENST00000367148.1_Silent_p.S875S|ARID1B_ENST00000350026.5_Silent_p.S875S|ARID1B_ENST00000275248.4_Silent_p.S817S	p.S888S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	2665	+		Breast(66;0.000162)|Ovarian(120;0.0265)	875					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.2664C>T	CCDS5251.2																																																																																				0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		47	43	0	0	0	1	0	47	43				
KIAA0196	9897	broad.mit.edu	37	8	126049557	126049557	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:126049557G>A	ENST00000318410.7	-	26	3452	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R887C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1035					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGGGTAAGCGCTTTGTTGTT	0.313																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3103-3105)Cgc>Tgc		KIAA0196							117.0	123.0	121.0					8																	126049557		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126049557G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3103C>T	8.37:g.126049557G>A	ENSP00000318016:p.Arg1035Cys					KIAA0196_ENST00000517845.1_Missense_Mutation_p.R887C	p.R1035C	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3452	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1035					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3103C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689171	0.88735	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.86164	-2.08;-2.08	6.03	6.03	0.97812	.	0.048543	0.85682	D	0.000000	D	0.88876	0.6556	L	0.36672	1.1	0.80722	D	1	P;D	0.60575	0.951;0.988	P;P	0.54401	0.625;0.751	D	0.88622	0.3163	10	0.56958	D	0.05	-11.4316	20.5596	0.99324	0.0:0.0:1.0:0.0	.	887;1035	E7EQI7;Q12768	.;STRUM_HUMAN	C	1035;887	ENSP00000318016:R1035C;ENSP00000429676:R887C	ENSP00000318016:R1035C	R	-	1	0	KIAA0196	126118739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.406000	0.97321	2.868000	0.98415	0.555000	0.69702	CGC		0.313	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		40	82	0	0	0	1	0	40	82				
C18orf8	29919	broad.mit.edu	37	18	21095841	21095841	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21095841C>A	ENST00000269221.3	+	6	540	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	C18orf8_ENST00000590868.1_Missense_Mutation_p.L96M	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	144						lysosomal membrane (GO:0005765)				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)					GAAACGGAGTCTGAAACTCTT	0.468											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(430-432)Ctg>Atg		chromosome 18 open reading frame 8							109.0	108.0	108.0					18																	21095841		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21095841C>A	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.430C>A	18.37:g.21095841C>A	ENSP00000269221:p.Leu144Met		OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745	C18orf8_ENST00000590868.1_Missense_Mutation_p.L96M	p.L144M	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			6	540	+	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)		144					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.430C>A	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876813	0.51801	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.13657	2.57	5.58	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.146088	0.47455	D	0.000234	T	0.23688	0.0573	M	0.78049	2.395	0.80722	D	1	B;P	0.37158	0.449;0.585	B;P	0.48425	0.373;0.577	T	0.06862	-1.0803	10	0.51188	T	0.08	-12.3792	3.3809	0.07254	0.0:0.5369:0.2824:0.1807	.	144;96	Q96DM3;F5H2W0	MIC1_HUMAN;.	M	144;96	ENSP00000269221:L144M	ENSP00000269221:L144M	L	+	1	2	C18orf8	19349839	0.921000	0.31238	0.955000	0.39395	0.922000	0.55478	1.741000	0.38238	2.626000	0.88956	0.644000	0.83932	CTG		0.468	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		4	155	1	0	0.000602214	1	0.000612743	4	155				
SPATA31E1	286234	broad.mit.edu	37	9	90500610	90500610	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90500610T>C	ENST00000325643.5	+	4	1274	c.1208T>C	c.(1207-1209)cTa>cCa	p.L403P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	403					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCACGACCCTAAATCCCTTC	0.562																																						ENST00000325643.5																			0											c.(1207-1209)cTa>cCa		SPATA31 subfamily E, member 1							89.0	69.0	76.0					9																	90500610		2203	4299	6502	SO:0001583	missense	286234							g.chr9:90500610T>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1208T>C	9.37:g.90500610T>C	ENSP00000322640:p.Leu403Pro						p.L403P	NM_178828.4	NP_849150.3					4	1274	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1208T>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	5.245	0.230708	0.09969	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03065	4.06	2.67	1.67	0.24075	.	1.500240	0.04258	N	0.339876	T	0.02418	0.0074	N	0.16233	0.39	0.09310	N	0.999999	B;B	0.14012	0.009;0.006	B;B	0.08055	0.003;0.002	T	0.40478	-0.9561	10	0.02654	T	1	.	5.5704	0.17194	0.0:0.838:0.0:0.162	.	403;55	Q6ZUB1;Q8NA33	CI079_HUMAN;.	P	403;55	ENSP00000322640:L403P	ENSP00000322640:L403P	L	+	2	0	C9orf79	89690430	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.245000	0.08890	0.684000	0.31448	-0.188000	0.12872	CTA		0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		15	31	0	0	0	1	0	15	31				
VEZF1	7716	broad.mit.edu	37	17	56060232	56060232	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56060232C>T	ENST00000581208.1	-	2	596	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	VEZF1_ENST00000584396.1_Missense_Mutation_p.V177M	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	186					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGATGGTACACATCTCGGAAG	0.488																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(529-531)Gtg>Atg		vascular endothelial zinc finger 1							86.0	71.0	76.0					17																	56060232		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060232C>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.556G>A	17.37:g.56060232C>T	ENSP00000462337:p.Val186Met					VEZF1_ENST00000581208.1_Missense_Mutation_p.V186M	p.V177M			Q14119	VEZF1_HUMAN			2	617	-			186						Missense_Mutation	SNP	ENST00000581208.1	37	c.529G>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120354	0.77323	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	L	0.34521	1.04	0.80722	D	1	P	0.35714	0.517	B	0.34824	0.19	T	0.46359	-0.9197	9	0.33940	T	0.23	-6.9846	19.3617	0.94442	0.0:1.0:0.0:0.0	.	186	Q14119	VEZF1_HUMAN	M	186	.	ENSP00000258963:V186M	V	-	1	0	VEZF1	53415231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.590000	0.87494	0.643000	0.83706	GTG		0.488	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			15	19	0	0	0	1	0	15	19				
HMMR	3161	broad.mit.edu	37	5	162910328	162910328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:162910328G>A	ENST00000358715.3	+	15	1773	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Nonsense_Mutation_p.W580*|HMMR_ENST00000432118.2_Nonsense_Mutation_p.W493*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.W564*|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	579					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TTAACAAGTGGCGTCTCCTCT	0.294																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1393-1395)tgG>tgA		hyaluronan-mediated motility receptor (RHAMM)							53.0	58.0	56.0					5																	162910328		2193	4296	6489	SO:0001587	stop_gained	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162910328G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1737G>A	5.37:g.162910328G>A	ENSP00000351554:p.Trp579*					RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Nonsense_Mutation_p.W493*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.W564*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.W580*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.W579*|RP11-80G7.1_ENST00000514724.2_RNA	p.W465*			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	15	1892	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	579					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Nonsense_Mutation	SNP	ENST00000358715.3	37	c.1395G>A	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709255	0.96821	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-5.7486	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	X	465;564;580;556;493;579	.	ENSP00000185942:W564X	W	+	3	0	HMMR	162842906	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.969000	0.76092	2.768000	0.95171	0.655000	0.94253	TGG		0.294	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		8	49	0	0	0	1	0	8	49				
PLA2G3	50487	broad.mit.edu	37	22	31534279	31534279	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31534279C>T	ENST00000215885.3	-	3	1017	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	255	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCAGTACCACGCCACACACG	0.617																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(763-765)gcG>gcA		phospholipase A2, group III							62.0	50.0	54.0					22																	31534279		2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31534279C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.765G>A	22.37:g.31534279C>T							p.A255A	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			3	1017	-			255			Phospholipase A2-like.		O95768	Silent	SNP	ENST00000215885.3	37	c.765G>A	CCDS13889.1																																																																																				0.617	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		6	13	0	0	0	1	0	6	13				
ZNF415	55786	broad.mit.edu	37	19	53611696	53611696	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53611696A>G	ENST00000500065.4	-	4	1935	c.1602T>C	c.(1600-1602)agT>agC	p.S534S	ZNF415_ENST00000421033.1_Silent_p.S546S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.S582S|ZNF415_ENST00000448501.1_Silent_p.S582S|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.S534S|ZNF415_ENST00000601493.1_Silent_p.S304S|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.S521S|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TTGGGCGCACACTAAAGGACT	0.388																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1744-1746)agT>agC		zinc finger protein 415							145.0	140.0	142.0					19																	53611696		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611696A>G	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1602T>C	19.37:g.53611696A>G						ZNF415_ENST00000243643.4_Silent_p.S534S|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.S304S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.S534S|ZNF415_ENST00000448501.1_Silent_p.S582S|ZNF415_ENST00000440291.1_Silent_p.S521S|ZNF415_ENST00000421033.1_Silent_p.S546S	p.S582S			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	2066	-			582					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1746T>C	CCDS54313.1																																																																																				0.388	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		53	116	0	0	0	1	0	53	116				
ACSL5	51703	broad.mit.edu	37	10	114182104	114182104	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114182104G>A	ENST00000393081.1	+	17	1805	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	ACSL5_ENST00000369410.3_Missense_Mutation_p.V282M|ACSL5_ENST00000354273.4_Missense_Mutation_p.V500M|ACSL5_ENST00000433418.1_Missense_Mutation_p.V500M|ACSL5_ENST00000354655.4_Missense_Mutation_p.V500M|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.V556M	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	500					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGTACAAACGTGTTCAAAGG	0.547																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1498-1500)Gtg>Atg		acyl-CoA synthetase long-chain family member 5							111.0	98.0	102.0					10																	114182104		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114182104G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1498G>A	10.37:g.114182104G>A	ENSP00000376796:p.Val500Met					ACSL5_ENST00000354655.4_Missense_Mutation_p.V500M|ACSL5_ENST00000433418.1_Missense_Mutation_p.V500M|ACSL5_ENST00000354273.4_Missense_Mutation_p.V500M|ACSL5_ENST00000369410.3_Missense_Mutation_p.V282M|ACSL5_ENST00000356116.1_Missense_Mutation_p.V556M	p.V500M	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	17	1805	+		Colorectal(252;0.117)|Breast(234;0.222)	500					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1498G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207658	0.58343	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.71	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.69078	0.997;0.992;0.983;0.987	D;P;P;P	0.69307	0.963;0.852;0.796;0.869	T	0.80395	-0.1400	10	0.59425	D	0.04	-16.7949	14.9365	0.70960	0.069:0.0:0.931:0.0	.	282;500;556;500	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	M	500;500;556;500;500;282	ENSP00000346680:V500M;ENSP00000376796:V500M;ENSP00000348429:V556M;ENSP00000403647:V500M;ENSP00000346223:V500M;ENSP00000358418:V282M	ENSP00000346223:V500M	V	+	1	0	ACSL5	114172094	1.000000	0.71417	0.839000	0.33178	0.105000	0.19272	7.992000	0.88273	1.419000	0.47118	-0.263000	0.10527	GTG		0.547	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		21	23	0	0	0	1	0	21	23				
PIAS4	51588	broad.mit.edu	37	19	4037780	4037780	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4037780G>T	ENST00000262971.2	+	11	1555	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	480	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		aggatgaggaggaggaggaag	0.706																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1438-1440)gaG>gaT		protein inhibitor of activated STAT, 4							16.0	15.0	16.0					19																	4037780		2184	4274	6458	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037780G>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1440G>T	19.37:g.4037780G>T	ENSP00000262971:p.Glu480Asp						p.E480D	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1555	+			480			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1440G>T	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.846580	0.00568	.	.	ENSG00000105229	ENST00000262971	T	0.30981	1.51	4.34	-0.898	0.10550	.	0.271819	0.28784	N	0.014152	T	0.11410	0.0278	N	0.12182	0.205	0.20489	N	0.999899	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	10	0.13470	T	0.59	-13.4985	3.9091	0.09196	0.0969:0.4387:0.3045:0.1598	.	480	Q8N2W9	PIAS4_HUMAN	D	480	ENSP00000262971:E480D	ENSP00000262971:E480D	E	+	3	2	PIAS4	3988780	0.859000	0.29813	0.033000	0.17914	0.133000	0.20885	-0.141000	0.10327	-0.385000	0.07833	0.466000	0.42574	GAG		0.706	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		3	7	1	0	1	1	1	3	7				
STX11	8676	broad.mit.edu	37	6	144508076	144508076	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144508076G>A	ENST00000367568.4	+	2	495	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	104				KL -> NV (in Ref. 1; AAD02107). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACTGCAAGCTGCGCGCCATGA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(310-312)ctG>ctA		syntaxin 11							20.0	21.0	21.0					6																	144508076		2203	4299	6502	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508076G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.312G>A	6.37:g.144508076G>A							p.L104L	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	495	+			104	KL -> NV (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.312G>A	CCDS5205.1																																																																																				0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			8	13	0	0	0	1	0	8	13				
COPRS	55352	broad.mit.edu	37	17	30179888	30179888	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:30179888C>T	ENST00000302362.6	-	3	465	c.328G>A	c.(328-330)Gat>Aat	p.D110N	COPRS_ENST00000378634.2_Missense_Mutation_p.D98N	NM_018405.3	NP_060875.2	Q9NQ92	COPRS_HUMAN	coordinator of PRMT5, differentiation stimulator	110					histone H4-R3 methylation (GO:0043985)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone binding (GO:0042393)										TTAAAAAGATCGCCAGGCTGT	0.517																																						ENST00000378634.2																			0											c.(292-294)Gat>Aat		coordinator of PRMT5, differentiation stimulator							187.0	192.0	190.0					17																	30179888		2203	4300	6503	SO:0001583	missense	55352							g.chr17:30179888C>T	AJ272196	CCDS11268.1	17q11.2	2012-11-16	2012-11-16	2012-11-16	ENSG00000172301	ENSG00000172301			28848	protein-coding gene	gene with protein product	"""cooperator of PRMT5"""		"""chromosome 17 open reading frame 79"""	C17orf79		10843809, 18404153	Standard	NM_018405		Approved	TTP1, HSA272196, COPR5	uc002hgp.3	Q9NQ92	OTTHUMG00000132812	ENST00000302362.6:c.328G>A	17.37:g.30179888C>T	ENSP00000304327:p.Asp110Asn					COPRS_ENST00000302362.6_Missense_Mutation_p.D110N	p.D98N							3	545	-								A6NP14|E1P656|Q96EF5|Q96P75	Missense_Mutation	SNP	ENST00000302362.6	37	c.292G>A	CCDS11268.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851948	0.32699	.	.	ENSG00000172301	ENST00000302362;ENST00000378634	T;T	0.46063	0.88;0.88	5.37	3.18	0.36537	.	0.519813	0.17535	N	0.170752	T	0.24509	0.0594	L	0.27053	0.805	0.09310	N	1	P	0.39624	0.681	B	0.33121	0.158	T	0.07309	-1.0779	10	0.34782	T	0.22	-6.1781	7.8111	0.29232	0.1854:0.6353:0.1793:0.0	.	110	Q9NQ92	COPR5_HUMAN	N	110;98	ENSP00000304327:D110N;ENSP00000367901:D98N	ENSP00000304327:D110N	D	-	1	0	C17orf79	27204001	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.187000	0.16998	1.192000	0.43071	0.467000	0.42956	GAT		0.517	COPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256257.2	NM_018405		4	173	0	0	0	1	0	4	173				
ALMS1P	200420	broad.mit.edu	37	2	73901106	73901106	+	RNA	SNP	G	G	A	rs189924480		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:73901106G>A	ENST00000450720.1	+	0	904					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												AATCGCATGCGCCCACTACCC	0.557													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16771	0.0		0.0	False		,,,				2504	0.0					ENST00000450720.1																			0																				66.0	56.0	59.0					2																	73901106		692	1591	2283			0							g.chr2:73901106G>A	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73901106G>A								NR_003683.2						0	904	+									RNA	SNP	ENST00000450720.1	37																																																																																						0.557	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		4	3	0	0	0	1	0	4	3				
ABCC11	85320	broad.mit.edu	37	16	48250197	48250197	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48250197G>A	ENST00000394747.1	-	6	1128	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ABCC11_ENST00000394748.1_Splice_Site_p.A260V|ABCC11_ENST00000353782.5_Splice_Site_p.A260V|ABCC11_ENST00000537808.1_Splice_Site_p.A260V|ABCC11_ENST00000356608.2_Splice_Site_p.A260V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	260	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAAGCTGATGGCCTGCAAGAC	0.557																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.e6-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							140.0	123.0	129.0					16																	48250197		2201	4300	6501	SO:0001630	splice_region_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250197G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.778-1C>T	16.37:g.48250197G>A						ABCC11_ENST00000353782.5_Splice_Site_p.A260_splice|ABCC11_ENST00000394748.1_Splice_Site_p.A260_splice|ABCC11_ENST00000356608.2_Splice_Site_p.A260_splice|ABCC11_ENST00000537808.1_Splice_Site_p.A260_splice	p.A260_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			6	1128	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	260			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Splice_Site	SNP	ENST00000394747.1	37	c.777_splice	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112375	0.06881	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.89	0.9	0.19278	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.537137	0.19085	N	0.123128	T	0.79028	0.4377	L	0.35288	1.05	0.27181	N	0.960672	B;B	0.19935	0.04;0.0	B;B	0.20184	0.028;0.004	T	0.61207	-0.7109	10	0.15066	T	0.55	-6.2433	7.2265	0.26018	0.3821:0.0:0.6179:0.0	.	260;260	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	260	ENSP00000311326:A260V;ENSP00000349017:A260V;ENSP00000378231:A260V;ENSP00000378230:A260V;ENSP00000438530:A260V	ENSP00000311326:A260V	A	-	2	0	ABCC11	46807698	1.000000	0.71417	0.995000	0.50966	0.724000	0.41520	0.779000	0.26746	-0.008000	0.14320	0.655000	0.94253	GCC		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Missense_Mutation	39	39	0	0	0	1	0	39	39				
ZNF592	9640	broad.mit.edu	37	15	85326360	85326360	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85326360C>T	ENST00000560079.2	+	4	742	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P152S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	152					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTGAGGATCCCATCAAAGA	0.557																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(454-456)Ccc>Tcc		zinc finger protein 592							132.0	141.0	138.0					15																	85326360		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326360C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.454C>T	15.37:g.85326360C>T	ENSP00000452877:p.Pro152Ser					ZNF592_ENST00000560079.2_Missense_Mutation_p.P152S	p.P152S			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	476	+			152					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.454C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.998621	0.02128	.	.	ENSG00000166716	ENST00000299927	T	0.00593	6.34	6.06	1.12	0.20585	.	0.234846	0.45606	D	0.000345	T	0.00241	0.0007	N	0.02011	-0.69	0.29479	N	0.856507	B	0.10296	0.003	B	0.06405	0.002	T	0.33214	-0.9877	10	0.11182	T	0.66	-7.228	0.45	0.00500	0.2802:0.2169:0.2979:0.205	.	152	Q92610	ZN592_HUMAN	S	152	ENSP00000299927:P152S	ENSP00000299927:P152S	P	+	1	0	ZNF592	83127364	0.000000	0.05858	0.690000	0.30148	0.835000	0.47333	-0.263000	0.08670	-0.030000	0.13804	-0.137000	0.14449	CCC		0.557	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		62	131	0	0	0	1	0	62	131				
WDR70	55100	broad.mit.edu	37	5	37701190	37701190	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37701190G>A	ENST00000265107.4	+	12	1379	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	408							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGACATCCGACAATTTAAT	0.368																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1222-1224)cGa>cAa		WD repeat domain 70							95.0	97.0	96.0					5																	37701190		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37701190G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1223G>A	5.37:g.37701190G>A	ENSP00000265107:p.Arg408Gln					WDR70_ENST00000510699.1_3'UTR	p.R408Q	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1379	+	all_lung(31;0.000285)		408					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1223G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396827	0.96009	.	.	ENSG00000082068	ENST00000265107	T	0.01474	4.85	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.13543	0.0328	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.00697	-1.1605	10	0.51188	T	0.08	-5.4569	18.7097	0.91652	0.0:0.0:1.0:0.0	.	408	Q9NW82	WDR70_HUMAN	Q	408	ENSP00000265107:R408Q	ENSP00000265107:R408Q	R	+	2	0	WDR70	37736947	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.436000	0.90300	2.514000	0.84764	0.650000	0.86243	CGA		0.368	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		36	53	0	0	0	1	0	36	53				
RCAN3	11123	broad.mit.edu	37	1	24861637	24861637	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24861637A>G	ENST00000374395.4	+	5	909	c.596A>G	c.(595-597)cAt>cGt	p.H199R	RCAN3_ENST00000436717.2_Missense_Mutation_p.H189R|RCAN3_ENST00000538532.1_Missense_Mutation_p.H141R|RCAN3_ENST00000374393.2_Missense_Mutation_p.M84V|RCAN3_ENST00000412742.2_Missense_Mutation_p.M142V	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	199					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GTGGTGGTTCATGTCTGTGAA	0.498																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(595-597)cAt>cGt		RCAN family member 3							47.0	49.0	49.0					1																	24861637		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24861637A>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.596A>G	1.37:g.24861637A>G	ENSP00000363516:p.His199Arg					RCAN3_ENST00000374393.2_Missense_Mutation_p.M84V|RCAN3_ENST00000538532.1_Missense_Mutation_p.H141R|RCAN3_ENST00000436717.2_Missense_Mutation_p.H189R|RCAN3_ENST00000412742.2_Missense_Mutation_p.M142V	p.H199R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	5	909	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	199					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.596A>G	CCDS254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.434843|4.434843	0.83885|0.83885	.|.	.|.	ENSG00000117602|ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532|ENST00000412742;ENST00000374393	T;T;T|.	0.49432|.	0.78;0.79;0.79|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67627|0.67627	0.2913|0.2913	M|M	0.90483|0.90483	3.12|3.12	0.29672|0.29672	N|N	0.842366|0.842366	D;D;D|B;B	0.89917|0.19706	0.996;1.0;1.0|0.038;0.009	D;D;D|B;B	0.91635|0.18561	0.969;0.999;0.998|0.022;0.01	T|T	0.68006|0.68006	-0.5523|-0.5523	10|8	0.72032|0.87932	D|D	0.01|0	-8.917|-8.917	15.8133|15.8133	0.78581|0.78581	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	141;189;199|84;142	A4GU14;Q9UKA8-2;Q9UKA8|E7EWD8;E7ENV1	.;.;RCAN3_HUMAN|.;.	R|V	199;189;141|142;84	ENSP00000363516:H199R;ENSP00000414447:H189R;ENSP00000445401:H141R|.	ENSP00000363516:H199R|ENSP00000363514:M84V	H|M	+|+	2|1	0|0	RCAN3|RCAN3	24734224|24734224	1.000000|1.000000	0.71417|0.71417	0.301000|0.301000	0.25044|0.25044	0.986000|0.986000	0.74619|0.74619	8.910000|8.910000	0.92685|0.92685	2.190000|2.190000	0.69967|0.69967	0.482000|0.482000	0.46254|0.46254	CAT|ATG		0.498	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			4	30	0	0	0	1	0	4	30				
TIA1	7072	broad.mit.edu	37	2	70463280	70463280	+	Silent	SNP	C	C	T	rs368195694		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70463280C>T	ENST00000433529.2	-	2	264	c.54G>A	c.(52-54)gtG>gtA	p.V18V	TIA1_ENST00000445587.1_Silent_p.V18V|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Silent_p.V18V|TIA1_ENST00000282574.4_Silent_p.V18V|TIA1_ENST00000415783.2_Silent_p.V18V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	18	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GAGCTTCTGTCACATCTCTGG	0.353																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(52-54)gtG>gtA		TIA1 cytotoxic granule-associated RNA binding protein							90.0	91.0	91.0					2																	70463280		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70463280C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.54G>A	2.37:g.70463280C>T						TIA1_ENST00000445587.1_Silent_p.V18V|TIA1_ENST00000415783.2_Silent_p.V18V|TIA1_ENST00000416149.2_Silent_p.V18V|TIA1_ENST00000282574.4_Silent_p.V18V|C2orf42_ENST00000470096.1_Intron	p.V18V	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			2	264	-			18			RRM 1.		Q53SS9	Silent	SNP	ENST00000433529.2	37	c.54G>A	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277337	0.23307	.	.	ENSG00000116001	ENST00000361692	.	.	.	5.57	4.69	0.59074	.	.	.	.	.	T	0.70753	0.3260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70200	-0.4937	4	.	.	.	-10.0977	15.179	0.72938	0.0:0.8582:0.1418:0.0	.	.	.	.	N	10	.	.	D	-	1	0	TIA1	70316784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.194000	0.32174	1.341000	0.45600	0.484000	0.47621	GAC		0.353	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		19	36	0	0	0	1	0	19	36				
PBX1	5087	broad.mit.edu	37	1	164761860	164761860	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:164761860C>T	ENST00000420696.2	+	3	583	c.395C>T	c.(394-396)gCg>gTg	p.A132V	PBX1_ENST00000540236.1_Missense_Mutation_p.A132V|PBX1_ENST00000367897.1_Missense_Mutation_p.A132V|PBX1_ENST00000560641.1_Missense_Mutation_p.A27V|PBX1_ENST00000401534.1_Missense_Mutation_p.A132V|PBX1_ENST00000559240.1_Missense_Mutation_p.A132V|PBX1_ENST00000540246.1_Missense_Mutation_p.A27V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	132	Poly-Ala.				adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						gcggcggcagcggcggcggcT	0.617			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(394-396)gCg>gTg		pre-B-cell leukemia homeobox 1							18.0	24.0	22.0					1																	164761860		2193	4278	6471	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761860C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.395C>T	1.37:g.164761860C>T	ENSP00000405890:p.Ala132Val					PBX1_ENST00000367897.1_Missense_Mutation_p.A132V|PBX1_ENST00000540246.1_Missense_Mutation_p.A27V|PBX1_ENST00000540236.1_Missense_Mutation_p.A132V|PBX1_ENST00000559240.1_Missense_Mutation_p.A132V|PBX1_ENST00000560641.1_Missense_Mutation_p.A27V|PBX1_ENST00000401534.1_Missense_Mutation_p.A132V	p.A132V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	583	+			132			Poly-Ala.		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.395C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225702	0.79576	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.5	5.5	0.81552	PBX (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.76574	2.34	0.09310	N	1.0	P;P;D;P;B	0.61080	0.873;0.766;0.989;0.883;0.359	B;P;P;P;B	0.52514	0.343;0.49;0.701;0.49;0.229	T	0.49679	-0.8914	9	0.56958	D	0.05	-8.5396	18.9768	0.92740	0.0:1.0:0.0:0.0	.	27;132;132;132;132	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	V	132;132;132;132;132;27	ENSP00000341455:A132V;ENSP00000405890:A132V;ENSP00000356872:A132V;ENSP00000439943:A132V;ENSP00000384856:A132V;ENSP00000440869:A27V	ENSP00000341455:A132V	A	+	2	0	PBX1	163028484	0.997000	0.39634	0.106000	0.21319	0.216000	0.24613	3.633000	0.54295	2.555000	0.86185	0.563000	0.77884	GCG		0.617	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		18	22	0	0	0	1	0	18	22				
SAMM50	25813	broad.mit.edu	37	22	44373826	44373826	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44373826C>T	ENST00000350028.4	+	10	1081	c.924C>T	c.(922-924)ctC>ctT	p.L308L	SAMM50_ENST00000396202.3_Silent_p.L98L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	308					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACAAGCAACTCATATTTGATT	0.463																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(922-924)ctC>ctT		SAMM50 sorting and assembly machinery component							74.0	59.0	64.0					22																	44373826		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44373826C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.924C>T	22.37:g.44373826C>T						SAMM50_ENST00000396202.3_Silent_p.L98L	p.L308L	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			10	1081	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	308					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.924C>T	CCDS14055.1																																																																																				0.463	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		4	8	0	0	0	1	0	4	8				
UPP1	7378	broad.mit.edu	37	7	48147888	48147888	+	Silent	SNP	C	C	T	rs2230763	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48147888C>T	ENST00000331803.4	+	10	1490	c.867C>T	c.(865-867)agC>agT	p.S289S	UPP1_ENST00000395564.4_Silent_p.S289S|UPP1_ENST00000429491.2_Silent_p.S152S|UPP1_ENST00000341253.4_Silent_p.S289S|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	289					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ATGTGCTCAGCGAGTACCAGC	0.602													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17698	0.0		0.0	False		,,,				2504	0.0					ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(865-867)agC>agT		uridine phosphorylase 1		C	,	9,4397	15.5+/-35.6	0,9,2194	73.0	72.0	72.0		867,867	-8.2	0.0	7	dbSNP_98	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	UPP1	NM_003364.2,NM_181597.1	,	0,10,6493	TT,TC,CC		0.0116,0.2043,0.0769	,	289/311,289/311	48147888	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48147888C>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.867C>T	7.37:g.48147888C>T						UPP1_ENST00000341253.4_Silent_p.S289S|UPP1_ENST00000395564.4_Silent_p.S289S|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Silent_p.S152S	p.S289S			Q16831	UPP1_HUMAN			10	1490	+			289					D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	c.867C>T	CCDS5507.1																																																																																				0.602	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		18	24	0	0	0	1	0	18	24				
PPOX	5498	broad.mit.edu	37	1	161137271	161137271	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161137271C>T	ENST00000367999.4	+	4	599	c.333C>T	c.(331-333)ggC>ggT	p.G111G	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.G111G|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TACCCACTGGCCTCAGGTAAC	0.498																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(331-333)ggC>ggT		protoporphyrinogen oxidase							44.0	40.0	42.0					1																	161137271		2203	4300	6503	SO:0001819	synonymous_variant	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161137271C>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.333C>T	1.37:g.161137271C>T						PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Silent_p.G111G|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.G111G	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	599	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		111					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.333C>T	CCDS1221.1																																																																																				0.498	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		4	11	0	0	0	1	0	4	11				
MAP3K5	4217	broad.mit.edu	37	6	136972228	136972228	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136972228A>G	ENST00000359015.4	-	11	2042	c.1682T>C	c.(1681-1683)gTa>gCa	p.V561A	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	561					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAATATTAATACCTTGAAAAG	0.368																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.e11-1		mitogen-activated protein kinase kinase kinase 5							94.0	85.0	88.0					6																	136972228		2202	4300	6502	SO:0001630	splice_region_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136972228A>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1681-1T>C	6.37:g.136972228A>G						MAP3K5_ENST00000355845.4_5'UTR	p.V561_splice	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	11	2042	-	Colorectal(23;0.24)		561					A6NIA0|B4DGB2|Q5THN3|Q99461	Splice_Site	SNP	ENST00000359015.4	37	c.1680_splice	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108743	0.77096	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.75704	-0.96	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.76002	2.32	0.80722	D	1	D;D	0.63880	0.985;0.993	P;D	0.70016	0.831;0.967	D	0.83814	0.0243	10	0.56958	D	0.05	.	14.2871	0.66254	1.0:0.0:0.0:0.0	.	641;561	Q59GL6;Q99683	.;M3K5_HUMAN	A	561;641	ENSP00000351908:V561A	ENSP00000351908:V561A	V	-	2	0	MAP3K5	137013921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.460000	0.90369	1.816000	0.52996	0.528000	0.53228	GTA		0.368	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		Missense_Mutation	8	13	0	0	0	1	0	8	13				
SIPA1	6494	broad.mit.edu	37	11	65409031	65409031	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65409031C>T	ENST00000394224.3	+	2	935	c.639C>T	c.(637-639)gaC>gaT	p.D213D	SIPA1_ENST00000394227.3_Silent_p.D213D|SIPA1_ENST00000527525.1_Silent_p.D213D|SIPA1_ENST00000534313.1_Silent_p.D213D	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	213					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCACGCAGACCTGGGTGCTG	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(637-639)gaC>gaT		signal-induced proliferation-associated 1							36.0	35.0	35.0					11																	65409031		2200	4294	6494	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65409031C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.639C>T	11.37:g.65409031C>T						SIPA1_ENST00000534313.1_Silent_p.D213D|SIPA1_ENST00000394227.3_Silent_p.D213D|SIPA1_ENST00000527525.1_Silent_p.D213D	p.D213D	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	935	+			213					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.639C>T	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	18	0	0	0	1	0	10	18				
MYO7B	4648	broad.mit.edu	37	2	128331595	128331595	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128331595C>T	ENST00000409816.2	+	6	725	c.693C>T	c.(691-693)cgC>cgT	p.R231R	MYO7B_ENST00000389524.4_Silent_p.R231R|MYO7B_ENST00000428314.1_Silent_p.R231R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	231	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGCGCGCGCATCGAGCAAT	0.582																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(691-693)cgC>cgT		myosin VIIB							86.0	97.0	93.0					2																	128331595		1915	4130	6045	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128331595C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.693C>T	2.37:g.128331595C>T						MYO7B_ENST00000428314.1_Silent_p.R231R|MYO7B_ENST00000409816.2_Silent_p.R231R	p.R231R			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	7	746	+	Colorectal(110;0.1)		231			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.693C>T	CCDS46405.1																																																																																				0.582	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		10	54	0	0	0	1	0	10	54				
L1CAM	3897	broad.mit.edu	37	X	153137794	153137794	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153137794C>T	ENST00000370060.1	-	5	402	c.213G>A	c.(211-213)agG>agA	p.R71R	L1CAM_ENST00000370055.1_Silent_p.R66R|L1CAM_ENST00000370057.3_Silent_p.R71R|L1CAM_ENST00000361981.3_Silent_p.R66R|L1CAM_ENST00000543994.1_Silent_p.R73R|L1CAM_ENST00000361699.4_Silent_p.R71R|L1CAM_ENST00000538883.1_Silent_p.R73R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	71	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACACCATCCCTCGTCCAGC	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(211-213)agG>agA		L1 cell adhesion molecule							82.0	68.0	73.0					X																	153137794		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153137794C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.213G>A	X.37:g.153137794C>T						L1CAM_ENST00000538883.1_Silent_p.R73R|L1CAM_ENST00000543994.1_Silent_p.R73R|L1CAM_ENST00000370055.1_Silent_p.R66R|L1CAM_ENST00000370057.3_Silent_p.R71R|L1CAM_ENST00000361981.3_Silent_p.R66R|L1CAM_ENST00000361699.4_Silent_p.R71R	p.R71R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			5	402	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		71			Ig-like C2-type 1.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.213G>A	CCDS14733.1																																																																																				0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		10	3	0	0	0	1	0	10	3				
PXK	54899	broad.mit.edu	37	3	58381463	58381463	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58381463A>T	ENST00000356151.2	+	9	908	c.799A>T	c.(799-801)Aca>Tca	p.T267S	PXK_ENST00000302779.5_Missense_Mutation_p.T250S|PXK_ENST00000484288.1_Missense_Mutation_p.T267S|PXK_ENST00000383715.4_Missense_Mutation_p.T250S|PXK_ENST00000536660.1_Missense_Mutation_p.T130S|PXK_ENST00000463280.1_Missense_Mutation_p.T234S|PXK_ENST00000383716.3_Missense_Mutation_p.T234S|PXK_ENST00000479241.1_Missense_Mutation_p.T250S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GCAAATAAAAACATATGGACG	0.358																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(700-702)Aca>Tca		PX domain containing serine/threonine kinase							62.0	64.0	64.0					3																	58381463		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58381463A>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.799A>T	3.37:g.58381463A>T	ENSP00000348472:p.Thr267Ser					PXK_ENST00000536660.1_Missense_Mutation_p.T130S|PXK_ENST00000302779.5_Missense_Mutation_p.T250S|PXK_ENST00000383715.4_Missense_Mutation_p.T250S|PXK_ENST00000484288.1_Missense_Mutation_p.T267S|PXK_ENST00000479241.1_Missense_Mutation_p.T250S|PXK_ENST00000383716.3_Missense_Mutation_p.T234S|PXK_ENST00000356151.2_Missense_Mutation_p.T267S	p.T234S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	791	+			267			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.700A>T	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.10|10.10	1.256931|1.256931	0.22965|0.22965	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T|T;T;T;T;T;T;T;T	0.74947|0.64260	-0.89|-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.22|5.22	2.76|2.76	0.32466|0.32466	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.304645	.|0.35495	.|N	.|0.003173	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.11698|0.11698	0.16|0.16	0.40702|0.40702	D|D	0.982499|0.982499	.|B;B;B;B;B;B	.|0.15473	.|0.003;0.001;0.003;0.013;0.001;0.004	.|B;B;B;B;B;B	.|0.17098	.|0.005;0.003;0.005;0.017;0.003;0.005	T|T	0.09271|0.09271	-1.0682|-1.0682	7|10	0.56958|0.25751	D|T	0.05|0.34	-7.801|-7.801	3.916|3.916	0.09224|0.09224	0.6656:0.1338:0.0719:0.1286|0.6656:0.1338:0.0719:0.1286	.|.	.|234;234;234;267;250;267	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	N|S	21|267;250;234;234;250;267;250;130;130	ENSP00000418202:K21N|ENSP00000348472:T267S;ENSP00000305045:T250S;ENSP00000373222:T234S;ENSP00000417903:T234S;ENSP00000373221:T250S;ENSP00000417915:T267S;ENSP00000419049:T250S;ENSP00000438356:T130S	ENSP00000418202:K21N|ENSP00000305045:T250S	K|T	+|+	3|1	2|0	PXK|PXK	58356503|58356503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.146000|2.146000	0.42216|0.42216	0.910000|0.910000	0.36722|0.36722	0.421000|0.421000	0.28195|0.28195	AAA|ACA		0.358	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		32	37	0	0	0	1	0	32	37				
PCDHA10	56139	broad.mit.edu	37	5	140237600	140237600	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140237600C>T	ENST00000307360.5	+	1	1967	c.1967C>T	c.(1966-1968)cCg>cTg	p.P656L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGCGAGCCGTCGCTGACG	0.682																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1966-1968)cCg>cTg									16.0	21.0	19.0					5																	140237600		1322	2282	3604	SO:0001583	missense	0							g.chr5:140237600C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1967C>T	5.37:g.140237600C>T	ENSP00000304234:p.Pro656Leu					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.P656L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1967	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1967C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331371	0.41297	.	.	ENSG00000250120	ENST00000307360	T	0.57436	0.4	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79816	0.4511	H	0.95504	3.68	0.47094	D	0.999315	D;D	0.89917	1.0;1.0	D;D	0.77557	0.988;0.99	D	0.87182	0.2228	9	0.87932	D	0	.	15.5185	0.75846	0.0:1.0:0.0:0.0	.	656;656	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	L	656	ENSP00000304234:P656L	ENSP00000304234:P656L	P	+	2	0	PCDHA10	140217784	0.003000	0.15002	0.984000	0.44739	0.193000	0.23685	1.369000	0.34227	1.932000	0.55993	0.491000	0.48974	CCG		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	12	0	0	0	1	0	7	12				
RTP5	285093	broad.mit.edu	37	2	242814203	242814203	+	Missense_Mutation	SNP	G	G	A	rs370247629		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242814203G>A	ENST00000343216.3	+	2	524	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_173821.2	NP_776182.2																					GAGCGCCAACGCCACAAAAGG	0.692																																						ENST00000343216.3																			0											c.(496-498)Gcc>Acc		CXXC finger protein 11			THR/ALA	1,3965		0,1,1982	9.0	11.0	11.0		496	-5.3	0.0	2		11	0,8234		0,0,4117	no	missense	C2orf85	NM_173821.2	58	0,1,6099	AA,AG,GG		0.0,0.0252,0.0082	benign	166/573	242814203	1,12199	1983	4117	6100	SO:0001583	missense	285093					integral to membrane		g.chr2:242814203G>A																												ENST00000343216.3:c.496G>A	2.37:g.242814203G>A	ENSP00000345374:p.Ala166Thr						p.A166T	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	524	+			166						Missense_Mutation	SNP	ENST00000343216.3	37	c.496G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.978456	0.00448	2.52E-4	0.0	ENSG00000188011	ENST00000343216	T	0.25579	1.79	2.66	-5.32	0.02722	.	.	.	.	.	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	9	0.09338	T	0.73	-5.0898	1.0248	0.01526	0.1608:0.1799:0.3114:0.3479	.	166	Q14D33	CB085_HUMAN	T	166	ENSP00000345374:A166T	ENSP00000345374:A166T	A	+	1	0	C2orf85	242462876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.921000	0.04008	-2.540000	0.00486	-1.620000	0.00792	GCC		0.692	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			3	8	0	0	0	1	0	3	8				
HOXB9	3219	broad.mit.edu	37	17	46700277	46700277	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46700277C>T	ENST00000311177.5	-	2	945	c.738G>A	c.(736-738)gaG>gaA	p.E246E	HOXB9_ENST00000550387.1_3'UTR|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	246					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTTTGCCCTGCTCCTTATTCA	0.473																																						ENST00000311177.5																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(736-738)gaG>gaA		homeobox B9							157.0	169.0	165.0					17																	46700277		2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700277C>T		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.738G>A	17.37:g.46700277C>T						HOXB9_ENST00000550387.1_3'UTR|HOXB7_ENST00000567101.1_Intron	p.E246E	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN			2	945	-			246					B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.738G>A	CCDS11534.1																																																																																				0.473	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			23	28	0	0	0	1	0	23	28				
SLC17A5	26503	broad.mit.edu	37	6	74331564	74331564	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74331564G>T	ENST00000355773.5	-	7	1209	c.941C>A	c.(940-942)aCt>aAt	p.T314N	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	314					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCATATAAGTAGGCAATAA	0.343																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(940-942)aCt>aAt		solute carrier family 17 (acidic sugar transporter), member 5							45.0	46.0	46.0					6																	74331564		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331564G>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.941C>A	6.37:g.74331564G>T	ENSP00000348019:p.Thr314Asn					SLC17A5_ENST00000393019.3_3'UTR	p.T314N	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			7	1209	-			314					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.941C>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570397	0.65765	.	.	ENSG00000119899	ENST00000355773	T	0.60424	0.19	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.78314	0.897;0.991	T	0.79422	-0.1810	10	0.72032	D	0.01	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	376;314	E1P537;Q9NRA2	.;S17A5_HUMAN	N	314	ENSP00000348019:T314N	ENSP00000348019:T314N	T	-	2	0	SLC17A5	74388285	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	9.255000	0.95524	2.758000	0.94735	0.555000	0.69702	ACT		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			10	18	1	0	0.00621372	1	0.00628055	10	18				
FOXA2	3170	broad.mit.edu	37	20	22563481	22563481	+	Silent	SNP	G	G	A	rs151323690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:22563481G>A	ENST00000377115.4	-	3	562	c.381C>T	c.(379-381)taC>taT	p.Y127Y	FOXA2_ENST00000419308.2_Silent_p.Y133Y	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	127					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCATGTTGGCGTAGGGGGCCA	0.751																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(379-381)taC>taT		forkhead box A2			,	0,4392		0,0,2196	25.0	28.0	27.0		399,381	-0.6	1.0	20	dbSNP_134	27	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous	FOXA2	NM_021784.4,NM_153675.2	,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,	133/464,127/458	22563481	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563481G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.381C>T	20.37:g.22563481G>A						FOXA2_ENST00000319993.4_Silent_p.Y133Y|FOXA2_ENST00000377115.4_Silent_p.Y127Y	p.Y127Y	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	583	-	Lung NSC(19;0.188)		127					Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	c.381C>T	CCDS13147.1																																																																																				0.751	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			19	21	0	0	0	1	0	19	21				
VPS13D	55187	broad.mit.edu	37	1	12382686	12382686	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12382686G>A	ENST00000358136.3	+	34	7928	c.7798G>A	c.(7798-7800)Gca>Aca	p.A2600T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2600T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTAATGCTGCAGTGCCAGA	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7798-7800)Gca>Aca		vacuolar protein sorting 13 homolog D (S. cerevisiae)							132.0	123.0	126.0					1																	12382686		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12382686G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7798G>A	1.37:g.12382686G>A	ENSP00000350854:p.Ala2600Thr					VPS13D_ENST00000356315.4_Missense_Mutation_p.A2600T	p.A2600T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	34	7928	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2600						Missense_Mutation	SNP	ENST00000358136.3	37	c.7798G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228337	0.22542	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54866	0.55;0.55	5.73	5.73	0.89815	.	0.471561	0.24645	N	0.036774	T	0.41419	0.1158	L	0.40543	1.245	0.25148	N	0.990441	B;B;B	0.28713	0.22;0.08;0.048	B;B;B	0.26202	0.039;0.067;0.03	T	0.23976	-1.0173	10	0.12766	T	0.61	.	13.1412	0.59436	0.073:0.0:0.927:0.0	.	507;2600;2600	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	T	2600	ENSP00000348666:A2600T;ENSP00000350854:A2600T	ENSP00000348666:A2600T	A	+	1	0	VPS13D	12305273	0.998000	0.40836	0.073000	0.20177	0.065000	0.16274	3.084000	0.50143	2.708000	0.92522	0.563000	0.77884	GCA		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		20	37	0	0	0	1	0	20	37				
SLC35F6	54978	broad.mit.edu	37	2	27001128	27001128	+	Missense_Mutation	SNP	G	G	A	rs536311747		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27001128G>A	ENST00000344420.5	+	6	927	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A206T	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	289					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.A289T(1)									GGAACTGAGCGCCACCACCCG	0.617																																						ENST00000344420.5																			1	Substitution - Missense(1)	p.A289T(1)	large_intestine(1)								c.(865-867)Gcc>Acc		solute carrier family 35, member F6							139.0	110.0	120.0					2																	27001128		2203	4300	6503	SO:0001583	missense	54978							g.chr2:27001128G>A	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.865G>A	2.37:g.27001128G>A	ENSP00000345528:p.Ala289Thr					CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A206T	p.A289T	NM_017877.3	NP_060347.2					6	927	+								D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.865G>A	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514845	0.96402	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	D;D	0.86432	-2.12;-2.12	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.95126	0.8251	10	0.66056	D	0.02	.	17.867	0.88797	0.0:0.0:1.0:0.0	.	142;206;289	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	T	289;206	ENSP00000345528:A289T;ENSP00000413413:A206T	ENSP00000345528:A289T	A	+	1	0	C2orf18	26854632	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	8.896000	0.92521	2.576000	0.86940	0.561000	0.74099	GCC		0.617	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		19	36	0	0	0	1	0	19	36				
MRPL38	64978	broad.mit.edu	37	17	73897876	73897876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73897876G>A	ENST00000309352.3	-	4	1045	c.508C>T	c.(508-510)Cga>Tga	p.R170*	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	170						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGGACTCGGGGCACAAAG	0.607																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(508-510)Cga>Tga		mitochondrial ribosomal protein L38							82.0	63.0	69.0					17																	73897876		2202	4300	6502	SO:0001587	stop_gained	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897876G>A	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.508C>T	17.37:g.73897876G>A	ENSP00000308275:p.Arg170*					MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	p.R170*	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1045	-			170					B3KN96|Q96Q66|Q9P0B9	Nonsense_Mutation	SNP	ENST00000309352.3	37	c.508C>T	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	37	6.524280	0.97637	.	.	ENSG00000204316	ENST00000309352	.	.	.	5.43	1.71	0.24356	.	0.389746	0.27236	N	0.020295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-7.5846	4.9368	0.13944	0.4106:0.0:0.4427:0.1468	.	.	.	.	X	170	.	ENSP00000308275:R170X	R	-	1	2	MRPL38	71409471	0.998000	0.40836	0.903000	0.35520	0.411000	0.31082	0.812000	0.27211	0.552000	0.29026	0.650000	0.86243	CGA		0.607	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		4	19	0	0	0	1	0	4	19				
KRBA1	84626	broad.mit.edu	37	7	149430775	149430775	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149430775C>T	ENST00000485033.2	+	15	2549	c.2549C>T	c.(2548-2550)gCa>gTa	p.A850V	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.A910V|KRBA1_ENST00000319551.8_Missense_Mutation_p.A850V			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	911										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCGCCGGGCACGTCCGCTG	0.662																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2728-2730)gCa>gTa		KRAB-A domain containing 1							11.0	14.0	13.0					7																	149430775		2174	4257	6431	SO:0001583	missense	84626							g.chr7:149430775C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2549C>T	7.37:g.149430775C>T	ENSP00000420112:p.Ala850Val					KRBA1_ENST00000319551.8_Missense_Mutation_p.A850V|KRBA1_ENST00000485033.2_Missense_Mutation_p.A850V|KRBA1_ENST00000479560.1_3'UTR	p.A910V	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3128	+	Melanoma(164;0.165)|Ovarian(565;0.177)		911					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2729C>T		.	.	.	.	.	.	.	.	.	.	C	5.408	0.260383	0.10239	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.23552	1.9;1.92;1.92	4.82	1.14	0.20703	.	0.409237	0.18092	N	0.151945	T	0.09905	0.0243	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.37526	-0.9702	9	0.07990	T	0.79	-2.6551	6.177	0.20449	0.0:0.3643:0.0:0.6357	.	850;911	E7ENE9;A5PL33	.;KRBA1_HUMAN	V	910;850;850	ENSP00000255992:A910V;ENSP00000317165:A850V;ENSP00000420112:A850V	ENSP00000255992:A910V	A	+	2	0	KRBA1	149061708	0.037000	0.19845	0.001000	0.08648	0.001000	0.01503	0.171000	0.16685	-0.037000	0.13646	-0.320000	0.08662	GCA		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		4	4	0	0	0	1	0	4	4				
CNTN5	53942	broad.mit.edu	37	11	100221465	100221465	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:100221465C>T	ENST00000524871.1	+	24	3353	c.3063C>T	c.(3061-3063)agC>agT	p.S1021S	CNTN5_ENST00000528682.1_Silent_p.S1021S|CNTN5_ENST00000418526.2_Silent_p.S947S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.S1021S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1021	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCAACAGCCAAGTTATTG	0.383																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3061-3063)agC>agT		contactin 5							112.0	106.0	108.0					11																	100221465		1889	4113	6002	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100221465C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3063C>T	11.37:g.100221465C>T						CNTN5_ENST00000279463.3_Silent_p.S1021S|CNTN5_ENST00000528682.1_Silent_p.S1021S|CNTN5_ENST00000418526.2_Silent_p.S947S|CNTN5_ENST00000524560.1_3'UTR	p.S1021S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	24	3353	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	1021			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.3063C>T	CCDS53696.1																																																																																				0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		7	21	0	0	0	1	0	7	21				
SULF1	23213	broad.mit.edu	37	8	70476261	70476261	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:70476261G>A	ENST00000260128.4	+	5	768	c.51G>A	c.(49-51)ttG>ttA	p.L17L	SULF1_ENST00000402687.4_Silent_p.L17L|SULF1_ENST00000419716.3_Silent_p.L17L|SULF1_ENST00000458141.2_Silent_p.L17L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	17					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCACAGAATTGCTGGGAAGCC	0.473																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(49-51)ttG>ttA		sulfatase 1							145.0	130.0	135.0					8																	70476261		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70476261G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.51G>A	8.37:g.70476261G>A						SULF1_ENST00000402687.4_Silent_p.L17L|SULF1_ENST00000419716.3_Silent_p.L17L|SULF1_ENST00000458141.2_Silent_p.L17L	p.L17L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		5	768	+	Breast(64;0.0654)		17					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.51G>A	CCDS6204.1																																																																																				0.473	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		21	85	0	0	0	1	0	21	85				
CPNE9	151835	broad.mit.edu	37	3	9760187	9760187	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9760187C>T	ENST00000383832.3	+	17	1332	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	CPNE9_ENST00000383831.3_Missense_Mutation_p.A381V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	381	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCCAACTGTGCGGGCATCGAG	0.562																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1141-1143)gCg>gTg		copine family member IX							82.0	82.0	82.0					3																	9760187		2020	4176	6196	SO:0001583	missense	151835							g.chr3:9760187C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1142C>T	3.37:g.9760187C>T	ENSP00000373343:p.Ala381Val					CPNE9_ENST00000383831.3_Missense_Mutation_p.A381V	p.A381V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			17	1332	+	Medulloblastoma(99;0.227)		381			VWFA.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1142C>T	CCDS2574.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.064|9.064	0.995117|0.995117	0.19043|0.19043	.|.	.|.	ENSG00000144550|ENSG00000144550	ENST00000383832;ENST00000383831|ENST00000273027	T;T|.	0.22134|.	1.97;1.97|.	5.44|5.44	1.41|1.41	0.22369|0.22369	von Willebrand factor, type A (2);Copine (1);|.	0.260679|.	0.37348|.	N|.	0.002128|.	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.04724|0.04724	-0.175|-0.175	0.21675|0.21675	N|N	0.999592|0.999592	B|.	0.10296|.	0.003|.	B|.	0.10450|.	0.005|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.14656|.	T|.	0.56|.	.|.	4.3896|4.3896	0.11334|0.11334	0.3699:0.4128:0.0:0.2174|0.3699:0.4128:0.0:0.2174	.|.	381|.	Q8IYJ1|.	CPNE9_HUMAN|.	V|W	381|113	ENSP00000373343:A381V;ENSP00000373342:A381V|.	ENSP00000373342:A381V|.	A|R	+|+	2|1	0|2	CPNE9|CPNE9	9735187|9735187	0.000000|0.000000	0.05858|0.05858	0.928000|0.928000	0.36995|0.36995	0.977000|0.977000	0.68977|0.68977	-0.157000|-0.157000	0.10085|0.10085	0.262000|0.262000	0.21774|0.21774	-1.101000|-1.101000	0.02118|0.02118	GCG|CGG		0.562	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		19	27	0	0	0	1	0	19	27				
TRAP1	10131	broad.mit.edu	37	16	3729744	3729744	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3729744C>T	ENST00000246957.5	-	5	607	c.519G>A	c.(517-519)ggG>ggA	p.G173G	TRAP1_ENST00000575671.1_5'Flank|TRAP1_ENST00000538171.1_Silent_p.G120G|TRAP1_ENST00000573872.1_5'Flank	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	173					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TGGCAATCGTCCCCAGGTTGG	0.637																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(517-519)ggG>ggA		TNF receptor-associated protein 1							77.0	64.0	69.0					16																	3729744		2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3729744C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.519G>A	16.37:g.3729744C>T						TRAP1_ENST00000538171.1_Silent_p.G120G	p.G173G	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			5	607	-		Ovarian(90;0.0261)	173					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.519G>A	CCDS10508.1																																																																																				0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		18	25	0	0	0	1	0	18	25				
RFX4	5992	broad.mit.edu	37	12	107078653	107078653	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:107078653C>T	ENST00000392842.1	+	6	791				RFX4_ENST00000229387.5_Missense_Mutation_p.S21L|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S21L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						cagatagattcgagatgccca	0.478																																						ENST00000229387.5																			1	Substitution - Missense(1)	p.S21L(1)	breast(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(61-63)tCg>tTg		regulatory factor X, 4 (influences HLA class II expression)							72.0	60.0	64.0					12																	107078653		2203	4300	6503	SO:0001627	intron_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107078653C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.378-2009C>T	12.37:g.107078653C>T						RFX4_ENST00000357881.4_Intron|RFX4_ENST00000392842.1_Intron|RP11-144F15.1_ENST00000551505.1_Intron	p.S21L	NM_032491.5	NP_115880.2	Q33E94	RFX4_HUMAN			1	180	+			369					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.62C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594727	0.03771	.	.	ENSG00000111783	ENST00000552866;ENST00000229387	T;T	0.78246	-1.16;0.92	4.44	2.57	0.30868	.	.	.	.	.	T	0.59390	0.2190	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.19148	0.024	T	0.54583	-0.8272	9	0.87932	D	0	.	9.6254	0.39748	0.3807:0.6193:0.0:0.0	.	21	B2RDW4	.	L	21	ENSP00000447904:S21L;ENSP00000229387:S21L	ENSP00000229387:S21L	S	+	2	0	RFX4	105602783	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.912000	0.28597	0.771000	0.33359	0.655000	0.94253	TCG		0.478	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	11	0	0	0	1	0	7	11				
TANC2	26115	broad.mit.edu	37	17	61499109	61499109	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61499109C>T	ENST00000424789.2	+	25	5770	c.5766C>T	c.(5764-5766)ccC>ccT	p.P1922P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1932P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1922					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATTACAGCCCCCATGGGATGC	0.527																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5764-5766)ccC>ccT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							78.0	77.0	78.0					17																	61499109		2012	4180	6192	SO:0001819	synonymous_variant	26115						binding	g.chr17:61499109C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5766C>T	17.37:g.61499109C>T						TANC2_ENST00000389520.4_Silent_p.P1932P|RP11-269G24.3_ENST00000583552.1_RNA	p.P1922P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5770	+			1922					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.5766C>T	CCDS45754.1																																																																																				0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			3	39	0	0	0	1	0	3	39				
EHMT2	10919	broad.mit.edu	37	6	31850722	31850722	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31850722G>A	ENST00000375537.4	-	24	3065	c.3059C>T	c.(3058-3060)gCg>gTg	p.A1020V	EHMT2_ENST00000395728.3_Missense_Mutation_p.A1077V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A986V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1043V|EHMT2-AS1_ENST00000434689.1_RNA	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1020	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCATGAGCACGCCTGGTTACA	0.562																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3229-3231)gCg>gTg		euchromatic histone-lysine N-methyltransferase 2							75.0	74.0	74.0					6																	31850722		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850722G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3059C>T	6.37:g.31850722G>A	ENSP00000364687:p.Ala1020Val					EHMT2_ENST00000375528.4_Missense_Mutation_p.A1043V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A986V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1020V|EHMT2_ENST00000480912.1_5'UTR	p.A1077V			Q96KQ7	EHMT2_HUMAN			23	3229	-			1020			Interaction with histone H3 (By similarity).|SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3230C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233008	0.58777	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.24	2.47	0.30058	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.66439	2.03	0.46609	D	0.999126	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.72075	0.728;0.918;0.976;0.974	T	0.76743	-0.2847	10	0.40728	T	0.16	.	9.1856	0.37168	0.1818:0.0:0.8182:0.0	.	1043;986;1020;841	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	1077;1043;986;1020;841	ENSP00000379078:A1077V;ENSP00000364678:A1043V;ENSP00000364680:A986V;ENSP00000364687:A1020V	ENSP00000364678:A1043V	A	-	2	0	EHMT2	31958701	1.000000	0.71417	0.499000	0.27577	0.453000	0.32348	9.386000	0.97228	0.451000	0.26802	-0.258000	0.10820	GCG		0.562	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		11	29	0	0	0	1	0	11	29				
ADCY2	108	broad.mit.edu	37	5	7706925	7706925	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:7706925G>A	ENST00000338316.4	+	8	1267	c.1178G>A	c.(1177-1179)tGt>tAt	p.C393Y	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.C213Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	393					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AATGTCCTGTGTGGCGTGATT	0.507																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1177-1179)tGt>tAt		adenylate cyclase 2 (brain)							284.0	248.0	260.0					5																	7706925		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706925G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1178G>A	5.37:g.7706925G>A	ENSP00000342952:p.Cys393Tyr					ADCY2_ENST00000537121.1_Missense_Mutation_p.C213Y	p.C393Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			8	1267	+			393					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1178G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266544	0.59540	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84370	-1.84;-1.84	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.87547	2.89	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94456	0.7672	10	0.87932	D	0	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	213;393	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	393;244;213	ENSP00000342952:C393Y;ENSP00000444803:C213Y	ENSP00000342952:C393Y	C	+	2	0	ADCY2	7759925	1.000000	0.71417	0.329000	0.25429	0.128000	0.20619	9.588000	0.98232	2.480000	0.83734	0.655000	0.94253	TGT		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		34	73	0	0	0	1	0	34	73				
ING1	3621	broad.mit.edu	37	13	111371749	111371749	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111371749C>T	ENST00000375774.3	+	2	1201	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	ING1_ENST00000333219.7_Missense_Mutation_p.R104W|ING1_ENST00000338450.7_Missense_Mutation_p.R60W|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000375775.3_Missense_Mutation_p.R35W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	247					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAACCGCACGCGGCAGGTGGA	0.677																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(739-741)Cgg>Tgg		inhibitor of growth family, member 1							37.0	47.0	44.0					13																	111371749		2203	4299	6502	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371749C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.739C>T	13.37:g.111371749C>T	ENSP00000364929:p.Arg247Trp					ING1_ENST00000333219.7_Missense_Mutation_p.R104W|ING1_ENST00000375775.3_Missense_Mutation_p.R35W|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.R60W	p.R247W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1201	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		247					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.739C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156049	0.38021	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T	0.42513	0.97;0.97;0.97	5.46	-7.01	0.01594	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.80616	2.505	0.45822	D	0.998695	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.877;0.995	T	0.73151	-0.4073	10	0.72032	D	0.01	-41.9298	19.7422	0.96237	0.2624:0.7376:0.0:0.0	.	247;104;60	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	W	60;104;35;247	ENSP00000345202:R60W;ENSP00000328436:R104W;ENSP00000364929:R247W	ENSP00000328436:R104W	R	+	1	2	ING1	110169750	0.956000	0.32656	0.005000	0.12908	0.230000	0.25150	2.131000	0.42074	-1.017000	0.03367	-0.500000	0.04577	CGG		0.677	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		22	25	0	0	0	1	0	22	25				
ZBTB3	79842	broad.mit.edu	37	11	62519768	62519768	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62519768G>A	ENST00000394807.3	-	2	1644	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTGTAGCTCCGCAGGCAGTAG	0.587																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1519-1521)Cgg>Tgg		zinc finger and BTB domain containing 3							90.0	83.0	85.0					11																	62519768		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519768G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1519C>T	11.37:g.62519768G>A	ENSP00000378286:p.Arg507Trp						p.R507W	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1644	-			507						Missense_Mutation	SNP	ENST00000394807.3	37	c.1519C>T	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131172	0.77549	.	.	ENSG00000185670	ENST00000394807	T	0.19806	2.12	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	M	0.64170	1.965	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.42882	-0.9425	10	0.87932	D	0	.	14.9584	0.71135	0.0:0.0:1.0:0.0	.	507	Q9H5J0	ZBTB3_HUMAN	W	507	ENSP00000378286:R507W	ENSP00000378286:R507W	R	-	1	2	ZBTB3	62276344	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.716000	0.54904	2.120000	0.65058	0.561000	0.74099	CGG		0.587	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		19	35	0	0	0	1	0	19	35				
ITPR3	3710	broad.mit.edu	37	6	33656035	33656035	+	Missense_Mutation	SNP	G	G	T	rs375661820		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33656035G>T	ENST00000374316.5	+	49	7455	c.6395G>T	c.(6394-6396)aGc>aTc	p.S2132I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S2132I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2132					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAGGACCGCAGCATGGAGCAG	0.657																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6394-6396)aGc>aTc		inositol 1,4,5-trisphosphate receptor, type 3							116.0	101.0	106.0					6																	33656035		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656035G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6395G>T	6.37:g.33656035G>T	ENSP00000363435:p.Ser2132Ile					ITPR3_ENST00000605930.1_Missense_Mutation_p.S2132I	p.S2132I			Q14573	ITPR3_HUMAN			49	7455	+			2132					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6395G>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146453	0.77888	.	.	ENSG00000096433	ENST00000374316	D	0.91792	-2.91	5.53	3.72	0.42706	.	0.089695	0.85682	D	0.000000	D	0.88123	0.6352	L	0.50333	1.59	0.50813	D	0.999894	P;D	0.61080	0.923;0.989	P;P	0.50440	0.641;0.543	D	0.88773	0.3265	10	0.87932	D	0	-44.8034	9.2961	0.37815	0.0729:0.2766:0.6505:0.0	.	2132;1802	Q14573;Q59ES2	ITPR3_HUMAN;.	I	2132	ENSP00000363435:S2132I	ENSP00000363435:S2132I	S	+	2	0	ITPR3	33764013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.598000	0.61069	1.308000	0.44962	0.650000	0.86243	AGC		0.657	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		22	30	1	0	5.35356e-11	1	5.74024e-11	22	30				
OR10Z1	128368	broad.mit.edu	37	1	158576625	158576625	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158576625G>A	ENST00000361284.1	+	1	397	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTCCACTATGCCAGCCACAT	0.502																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(397-399)Gcc>Acc		olfactory receptor, family 10, subfamily Z, member 1							95.0	95.0	95.0					1																	158576625		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576625G>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.397G>A	1.37:g.158576625G>A	ENSP00000354707:p.Ala133Thr						p.A133T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	397	+	all_hematologic(112;0.0378)		133					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.397G>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	0.076	-1.193126	0.01607	.	.	ENSG00000198967	ENST00000361284	T	0.01059	5.39	5.36	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	1.010930	0.07956	N	0.981624	T	0.00109	0.0003	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35624	-0.9781	10	0.02654	T	1	.	3.7983	0.08749	0.409:0.0:0.4276:0.1633	.	133	Q8NGY1	O10Z1_HUMAN	T	133	ENSP00000354707:A133T	ENSP00000354707:A133T	A	+	1	0	OR10Z1	156843249	0.000000	0.05858	0.921000	0.36526	0.505000	0.33919	-0.118000	0.10692	0.098000	0.17522	0.655000	0.94253	GCC		0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		24	31	0	0	0	1	0	24	31				
MRGPRX4	117196	broad.mit.edu	37	11	18194972	18194972	+	Missense_Mutation	SNP	C	C	T	rs201987699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18194972C>T	ENST00000314254.3	+	1	589	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTACCGCATGCGCAGGAACGC	0.537																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(169-171)Cgc>Tgc		MAS-related GPR, member X4							126.0	110.0	116.0					11																	18194972		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194972C>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.169C>T	11.37:g.18194972C>T	ENSP00000314042:p.Arg57Cys					RP11-113D6.6_ENST00000527671.1_Intron	p.R57C	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	589	+			57					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.169C>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647028	0.29246	.	.	ENSG00000179817	ENST00000314254	T	0.10960	2.82	2.94	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	0.675165	0.13537	N	0.380517	T	0.12220	0.0297	M	0.83852	2.665	0.09310	N	1	B	0.33022	0.394	B	0.30572	0.117	T	0.09443	-1.0674	10	0.51188	T	0.08	.	8.0354	0.30488	0.6777:0.1858:0.1365:0.0	.	57	Q96LA9	MRGX4_HUMAN	C	57	ENSP00000314042:R57C	ENSP00000314042:R57C	R	+	1	0	MRGPRX4	18151548	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.750000	0.01822	-0.726000	0.04895	-0.444000	0.05651	CGC		0.537	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		24	27	0	0	0	1	0	24	27				
GYS1	2997	broad.mit.edu	37	19	49494707	49494707	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49494707G>A	ENST00000323798.3	-	2	348	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RUVBL2_ENST00000595090.1_5'Flank|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Intron|RUVBL2_ENST00000413176.2_5'Flank|RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.A51V|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	51					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTCACCTTCGCCTTCGTCTG	0.672																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(151-153)gCg>gTg		glycogen synthase 1 (muscle)							116.0	129.0	125.0					19																	49494707		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49494707G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.152C>T	19.37:g.49494707G>A	ENSP00000317904:p.Ala51Val					GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.A51V	p.A51V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	2	348	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	51					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.152C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472560	0.63737	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000457974	T;T	0.77877	-0.63;-1.13	5.0	3.97	0.46021	.	0.051301	0.85682	D	0.000000	D	0.83613	0.5292	M	0.62209	1.925	0.80722	D	1	P;D	0.71674	0.593;0.998	B;D	0.65010	0.124;0.931	D	0.83365	0.0004	10	0.46703	T	0.11	-26.5184	11.4877	0.50363	0.089:0.0:0.911:0.0	.	51;51	Q9BTT9;P13807	.;GYS1_HUMAN	V	51;51;50	ENSP00000317904:A51V;ENSP00000263276:A51V	ENSP00000263276:A51V	A	-	2	0	GYS1	54186519	1.000000	0.71417	0.991000	0.47740	0.693000	0.40251	9.176000	0.94839	1.259000	0.44117	-0.229000	0.12294	GCG		0.672	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		54	84	0	0	0	1	0	54	84				
NEGR1	257194	broad.mit.edu	37	1	72748149	72748149	+	Missense_Mutation	SNP	G	G	A	rs375602055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:72748149G>A	ENST00000357731.5	-	1	268	c.29C>T	c.(28-30)gCt>gTt	p.A10V	NEGR1_ENST00000434200.1_Missense_Mutation_p.A8V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	10					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CGAGCAACAAGCACCCTGCAC	0.647																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(28-30)gCt>gTt		neuronal growth regulator 1		G	VAL/ALA	0,4406		0,0,2203	94.0	74.0	81.0		29	5.2	1.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEGR1	NM_173808.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	10/355	72748149	1,13005	2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748149G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.29C>T	1.37:g.72748149G>A	ENSP00000350364:p.Ala10Val					NEGR1_ENST00000434200.1_Missense_Mutation_p.A8V	p.A10V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	268	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	10					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.29C>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023832	0.93462	0.0	1.16E-4	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.73047	0.56;-0.71	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	N	0.24115	0.695	0.47441	D	0.99942	D;B	0.57571	0.98;0.384	P;B	0.59288	0.855;0.112	T	0.68443	-0.5407	10	0.46703	T	0.11	-8.2059	16.3288	0.82997	0.0:0.0:1.0:0.0	.	8;10	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	V	10;8	ENSP00000350364:A10V;ENSP00000413294:A8V	ENSP00000350364:A10V	A	-	2	0	NEGR1	72520737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.523000	0.73787	2.457000	0.83068	0.561000	0.74099	GCT		0.647	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		8	14	0	0	0	1	0	8	14				
STK26	51765	broad.mit.edu	37	X	131188701	131188701	+	Missense_Mutation	SNP	C	C	T	rs375587063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:131188701C>T	ENST00000354719.6	+	3	301	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	MST4_ENST00000496850.1_Missense_Mutation_p.R29C|MST4_ENST00000481105.1_Missense_Mutation_p.R29C|MST4_ENST00000394335.2_Intron|MST4_ENST00000394334.2_Missense_Mutation_p.R29C																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAATTAGAGCGCATTGGGAA	0.388													C|||	1	0.000264901	0.0	0.0	3775	,	,		13346	0.0		0.001	False		,,,				2504	0.0					ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(85-87)Cgc>Tgc				C	CYS/ARG,,CYS/ARG	0,3835		0,0,1632,571	71.0	65.0	67.0		85,,85	4.4	1.0	X		67	1,6727		0,1,2427,1872	no	missense,intron,missense	MST4	NM_001042452.1,NM_001042453.1,NM_016542.3	180,,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,,probably-damaging	29/355,,29/417	131188701	1,10562	2203	4300	6503	SO:0001583	missense	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131188701C>T																												ENST00000354719.6:c.85C>T	X.37:g.131188701C>T	ENSP00000346755:p.Arg29Cys					MST4_ENST00000496850.1_Missense_Mutation_p.R29C|MST4_ENST00000394335.2_Intron|MST4_ENST00000481105.1_Missense_Mutation_p.R29C|MST4_ENST00000354719.6_Missense_Mutation_p.R29C	p.R29C	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			3	338	+	Acute lymphoblastic leukemia(192;0.000127)		29			Protein kinase.			Missense_Mutation	SNP	ENST00000354719.6	37	c.85C>T		.	.	.	.	.	.	.	.	.	.	C	15.10	2.734060	0.48939	0.0	1.49E-4	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000496850	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.3	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.42562	0.1208	L	0.53561	1.675	0.80722	D	1	P;P;P;D	0.89917	0.525;0.495;0.503;1.0	B;B;B;D	0.68943	0.124;0.075;0.037;0.961	T	0.14755	-1.0461	10	0.30078	T	0.28	.	13.0553	0.58977	0.0:0.9211:0.0:0.0789	.	29;29;29;29	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289	.;.;.;MST4_HUMAN	C	29	ENSP00000377867:R29C;ENSP00000418753:R29C;ENSP00000346755:R29C;ENSP00000419702:R29C	ENSP00000346755:R29C	R	+	1	0	AL109749.1	131016382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.716000	0.61916	1.211000	0.43351	0.594000	0.82650	CGC		0.388	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			26	7	0	0	0	1	0	26	7				
MAGI1	9223	broad.mit.edu	37	3	65607655	65607655	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:65607655G>A	ENST00000497477.2	-	2	421	c.422C>T	c.(421-423)gCt>gTt	p.A141V	MAGI1_ENST00000483466.1_Missense_Mutation_p.A141V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.A141V|MAGI1_ENST00000402939.2_Missense_Mutation_p.A141V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	141	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACAAGGCACAGCATGGCGGTA	0.488																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(421-423)gCt>gTt		membrane associated guanylate kinase, WW and PDZ domain containing 1							135.0	107.0	116.0					3																	65607655		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65607655G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.422C>T	3.37:g.65607655G>A	ENSP00000424369:p.Ala141Val					MAGI1_ENST00000497477.2_Missense_Mutation_p.A141V|MAGI1_ENST00000402939.2_Missense_Mutation_p.A141V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.A141V	p.A141V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	2	421	-		Lung NSC(201;0.0016)	141			Guanylate kinase-like.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.422C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272317	0.80580	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000483466;ENST00000497477	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.45	5.45	0.79879	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.120219	0.53938	D	0.000045	T	0.45657	0.1353	N	0.16066	0.365	0.58432	D	0.999994	B;D;B;P;B	0.59767	0.167;0.986;0.4;0.459;0.082	B;P;B;B;B	0.58520	0.045;0.84;0.11;0.101;0.053	T	0.48658	-0.9016	10	0.48119	T	0.1	-4.513	19.296	0.94122	0.0:0.0:1.0:0.0	.	141;141;141;141;141	Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	MAGI1_HUMAN;.;.;.;.	V	141;141;37;141;141	ENSP00000385450:A141V;ENSP00000331157:A141V;ENSP00000420323:A141V;ENSP00000424369:A141V	ENSP00000331157:A141V	A	-	2	0	MAGI1	65582695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.669000	0.98622	2.563000	0.86464	0.650000	0.86243	GCT		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		17	24	0	0	0	1	0	17	24				
CCDC3	83643	broad.mit.edu	37	10	12940631	12940631	+	Missense_Mutation	SNP	C	C	T	rs145872952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12940631C>T	ENST00000378825.3	-	3	724	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	CCDC3_ENST00000378839.1_Missense_Mutation_p.V75I	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	200						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGTTTCTTGACGTGGTCCTCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16856	0.0		0.001	False		,,,				2504	0.0					ENST00000378839.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11						c.(223-225)Gtc>Atc		coiled-coil domain containing 3		C	ILE/VAL	0,4406		0,0,2203	72.0	62.0	65.0		598	5.4	1.0	10	dbSNP_134	65	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CCDC3	NM_031455.3	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	200/271	12940631	4,13002	2203	4300	6503	SO:0001583	missense	83643					endoplasmic reticulum|extracellular region		g.chr10:12940631C>T	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.598G>A	10.37:g.12940631C>T	ENSP00000368102:p.Val200Ile					CCDC3_ENST00000378825.3_Missense_Mutation_p.V200I	p.V75I			Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		7	1175	-		Ovarian(717;0.0822)	200					Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	c.223G>A	CCDS7093.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.8	4.455433	0.84209	0.0	4.65E-4	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.17691	2.26	5.42	5.42	0.78866	.	0.330512	0.26106	N	0.026308	T	0.18257	0.0438	M	0.64997	1.995	0.40106	D	0.976437	P	0.44946	0.846	B	0.30251	0.113	T	0.10245	-1.0638	10	0.56958	D	0.05	-25.0542	18.1996	0.89833	0.0:1.0:0.0:0.0	.	200	Q9BQI4	CCDC3_HUMAN	I	75;200	ENSP00000368116:V75I	ENSP00000368102:V200I	V	-	1	0	CCDC3	12980637	0.999000	0.42202	0.998000	0.56505	0.880000	0.50808	4.526000	0.60566	2.550000	0.86006	0.561000	0.74099	GTC		0.602	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		18	42	0	0	0	1	0	18	42				
GATAD2A	54815	broad.mit.edu	37	19	19609379	19609379	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19609379C>T	ENST00000360315.3	+	8	1364	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351V|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351V|GATAD2A_ENST00000404158.1_Missense_Mutation_p.A351V|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178V	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	351	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCAAGCTGGCGCTGCGCAAA	0.652																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1051-1053)gCg>gTg		GATA zinc finger domain containing 2A							34.0	37.0	36.0					19																	19609379		2202	4300	6502	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609379C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1052C>T	19.37:g.19609379C>T	ENSP00000353463:p.Ala351Val					GATAD2A_ENST00000358713.3_Missense_Mutation_p.A351V|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A178V|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A351V|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A351V	p.A351V			Q86YP4	P66A_HUMAN			10	1470	+			351					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1052C>T	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571295	0.86542	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.62105	0.81;0.44;1.12;0.81;0.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.81084	-0.1093	9	.	.	.	-26.9323	18.3542	0.90351	0.0:1.0:0.0:0.0	.	178;370;351	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	V	351;351;370;351;178	ENSP00000353463:A351V;ENSP00000252577:A351V;ENSP00000384899:A370V;ENSP00000351552:A351V;ENSP00000388416:A178V	.	A	+	2	0	GATAD2A	19470379	1.000000	0.71417	0.793000	0.32043	0.171000	0.22731	7.796000	0.85898	2.691000	0.91804	0.650000	0.86243	GCG		0.652	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		5	19	0	0	0	1	0	5	19				
ALPI	248	broad.mit.edu	37	2	233323451	233323451	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233323451C>T	ENST00000295463.3	+	10	1370	c.1293C>T	c.(1291-1293)agC>agT	p.S431S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	431					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGAATGAGAGCGAGAGCGGTG	0.652																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1291-1293)agC>agT		alkaline phosphatase, intestinal							61.0	57.0	58.0					2																	233323451		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323451C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1293C>T	2.37:g.233323451C>T							p.S431S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	10	1370	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	431					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.1293C>T	CCDS2492.1																																																																																				0.652	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		6	16	0	0	0	1	0	6	16				
NLGN2	57555	broad.mit.edu	37	17	7317763	7317763	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7317763C>A	ENST00000302926.2	+	3	682	c.609C>A	c.(607-609)gcC>gcA	p.A203A	NLGN2_ENST00000575301.1_Silent_p.A203A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	203					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCCTGGCTGCCTATGGCAACG	0.607																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(607-609)gcC>gcA		neuroligin 2							107.0	90.0	96.0					17																	7317763		2203	4300	6503	SO:0001819	synonymous_variant	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7317763C>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.609C>A	17.37:g.7317763C>A						NLGN2_ENST00000575301.1_Silent_p.A203A	p.A203A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			3	682	+		Prostate(122;0.157)	203					Q9P2I1	Silent	SNP	ENST00000302926.2	37	c.609C>A	CCDS11103.1																																																																																				0.607	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		22	34	1	0	4.26978e-12	1	4.60954e-12	22	34				
BIRC6	57448	broad.mit.edu	37	2	32728305	32728305	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:32728305T>C	ENST00000421745.2	+	49	9633		c.e49+2			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACCCCTCGGTAAGAAAAGTG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e49+2		baculoviral IAP repeat containing 6							55.0	55.0	55.0					2																	32728305		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32728305T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9499+2T>C	2.37:g.32728305T>C								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			49	9633	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943699	0.73672	.	.	ENSG00000115760	ENST00000421745	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32581809	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	7.978000	0.88095	2.371000	0.80710	0.533000	0.62120	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	6	7	0	0	0	1	0	6	7				
ANKRD44	91526	broad.mit.edu	37	2	197870470	197870470	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197870470A>G	ENST00000328737.2	-	21	2296	c.2220T>C	c.(2218-2220)tgT>tgC	p.C740C	ANKRD44_ENST00000282272.8_Silent_p.C757C|ANKRD44_ENST00000337207.5_Silent_p.C740C|ANKRD44_ENST00000450567.1_Silent_p.C740C			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	765										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTTGAAACAACAGTCCTCCT	0.532																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(2218-2220)tgT>tgC		ankyrin repeat domain 44							127.0	120.0	123.0					2																	197870470		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197870470A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2220T>C	2.37:g.197870470A>G						ANKRD44_ENST00000450567.1_Silent_p.C740C|ANKRD44_ENST00000337207.5_Silent_p.C740C|ANKRD44_ENST00000282272.8_Silent_p.C757C	p.C740C			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	2296	-			765					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.2220T>C																																																																																					0.532	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		29	41	0	0	0	1	0	29	41				
C11orf16	56673	broad.mit.edu	37	11	8942944	8942944	+	Silent	SNP	C	C	T	rs532619467		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8942944C>T	ENST00000326053.5	-	6	1429	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	441										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCGGGGTCCGCGGTGGCTTCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		18805	0.0		0.0	False		,,,				2504	0.001					ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1321-1323)ccG>ccA		chromosome 11 open reading frame 16							135.0	126.0	129.0					11																	8942944		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8942944C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1323G>A	11.37:g.8942944C>T						C11orf16_ENST00000525780.1_Intron	p.P441P	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1429	-			441					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1323G>A	CCDS7794.1																																																																																				0.522	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		42	78	0	0	0	1	0	42	78				
RBM19	9904	broad.mit.edu	37	12	114397934	114397934	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:114397934C>T	ENST00000545145.2	-	3	347	c.269G>A	c.(268-270)aGc>aAc	p.S90N	RBM19_ENST00000261741.5_Missense_Mutation_p.S90N|RBM19_ENST00000392561.3_Missense_Mutation_p.S90N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	90					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCATGTTTGCTCCAGGCTCT	0.527																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(268-270)aGc>aAc		RNA binding motif protein 19							101.0	101.0	101.0					12																	114397934		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114397934C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.269G>A	12.37:g.114397934C>T	ENSP00000442053:p.Ser90Asn					RBM19_ENST00000392561.3_Missense_Mutation_p.S90N|RBM19_ENST00000261741.5_Missense_Mutation_p.S90N	p.S90N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			3	347	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		90					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.269G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912354	0.92178	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08984	3.03;3.03;3.03	4.86	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27157	-1.0082	10	0.72032	D	0.01	-29.566	18.1761	0.89761	0.0:1.0:0.0:0.0	.	90	Q9Y4C8	RBM19_HUMAN	N	90	ENSP00000442053:S90N;ENSP00000376344:S90N;ENSP00000261741:S90N	ENSP00000261741:S90N	S	-	2	0	RBM19	112882317	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.207000	0.77899	2.513000	0.84729	0.557000	0.71058	AGC		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		18	21	0	0	0	1	0	18	21				
ZNF225	7768	broad.mit.edu	37	19	44635250	44635250	+	Silent	SNP	C	C	T	rs201221735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44635250C>T	ENST00000262894.6	+	5	763	c.483C>T	c.(481-483)tcC>tcT	p.S161S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S161S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTGATGTCTCCGTCCTTGATC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		23490	0.001		0.0	False		,,,				2504	0.0					ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(481-483)tcC>tcT		zinc finger protein 225							110.0	110.0	110.0					19																	44635250		2032	4213	6245	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635250C>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.483C>T	19.37:g.44635250C>T						ZNF225_ENST00000590612.1_Silent_p.S161S|ZNF225_ENST00000592780.1_3'UTR	p.S161S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	763	+		Prostate(69;0.0352)|all_neural(266;0.202)	161					A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.483C>T	CCDS46100.1																																																																																				0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			27	33	0	0	0	1	0	27	33				
TAS2R50	259296	broad.mit.edu	37	12	11139200	11139200	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11139200G>A	ENST00000506868.1	-	1	311	c.260C>T	c.(259-261)gCc>gTc	p.A87V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	87					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TACAACCCAGGCATTATAAGA	0.348																																						ENST00000506868.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(259-261)gCc>gTc		taste receptor, type 2, member 50							71.0	80.0	77.0					12																	11139200		2202	4300	6502	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139200G>A	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.260C>T	12.37:g.11139200G>A	ENSP00000424040:p.Ala87Val					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.A87V	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	311	-			87					P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.260C>T	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.313486	0.01331	.	.	ENSG00000212126	ENST00000506868	T	0.35236	1.32	1.84	0.89	0.19218	.	1.429420	0.05270	U	0.517282	T	0.24160	0.0585	L	0.35288	1.05	0.09310	N	1	B	0.23128	0.08	B	0.26864	0.074	T	0.26985	-1.0087	10	0.11182	T	0.66	.	3.3747	0.07233	0.4284:0.0:0.5716:0.0	.	87	P59544	T2R50_HUMAN	V	87	ENSP00000424040:A87V	ENSP00000424040:A87V	A	-	2	0	TAS2R50	11030467	0.002000	0.14202	0.016000	0.15963	0.254000	0.26022	-0.191000	0.09601	1.013000	0.39391	0.313000	0.20887	GCC		0.348	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		4	94	0	0	0	1	0	4	94				
ICE1	23379	broad.mit.edu	37	5	5473844	5473844	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5473844G>A	ENST00000296564.7	+	16	6618	c.6396G>A	c.(6394-6396)acG>acA	p.T2132T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2132					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGATCTGGACGCATGATAACA	0.328																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6394-6396)acG>acA		KIAA0947							45.0	42.0	43.0					5																	5473844		1875	4114	5989	SO:0001819	synonymous_variant	23379							g.chr5:5473844G>A																												ENST00000296564.7:c.6396G>A	5.37:g.5473844G>A							p.T2132T	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			16	6618	+			2132					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6396G>A	CCDS47187.1																																																																																				0.328	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			10	17	0	0	0	1	0	10	17				
ECE2	9718	broad.mit.edu	37	3	183976188	183976188	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183976188C>T	ENST00000402825.3	+	2	480				ECE2_ENST00000324557.4_Missense_Mutation_p.A198V|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGAGGCATGCTACCTATGGC	0.582																																						ENST00000324557.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(592-594)gCt>gTt		endothelin converting enzyme 2							129.0	125.0	126.0					3																	183976188		2203	4300	6503	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183976188C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.480+644C>T	3.37:g.183976188C>T						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.A198V	NM_032331.3	NP_115707.2	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	638	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0					A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.593C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926460	0.18056	.	.	ENSG00000145194	ENST00000324557	T	0.17691	2.26	5.13	4.26	0.50523	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.17722	0.019	T	0.20306	-1.0279	8	0.17369	T	0.5	.	7.8975	0.29715	0.1578:0.76:0.0:0.0822	.	198	O60344-4	.	V	198	ENSP00000314295:A198V	ENSP00000314295:A198V	A	+	2	0	ECE2	185458882	0.000000	0.05858	0.998000	0.56505	0.877000	0.50540	0.753000	0.26376	1.389000	0.46526	0.655000	0.94253	GCT		0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		40	75	0	0	0	1	0	40	75				
INPP4A	3631	broad.mit.edu	37	2	99193459	99193459	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:99193459G>A	ENST00000523221.1	+	23	2654	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	INPP4A_ENST00000545415.1_Missense_Mutation_p.R846H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R885H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R846H|INPP4A_ENST00000409016.4_Missense_Mutation_p.R846H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R880H|INPP4A_ENST00000409463.1_Missense_Mutation_p.R214H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	885					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAGATCTGCCGCCGCCTTAAT	0.592																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2653-2655)cGc>cAc		inositol polyphosphate-4-phosphatase, type I, 107kDa							61.0	64.0	63.0					2																	99193459		2064	4200	6264	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99193459G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2654G>A	2.37:g.99193459G>A	ENSP00000427722:p.Arg885His					INPP4A_ENST00000409540.3_Missense_Mutation_p.R846H|INPP4A_ENST00000523221.1_Missense_Mutation_p.R885H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R846H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R880H|INPP4A_ENST00000409016.3_Missense_Mutation_p.R846H|INPP4A_ENST00000409463.1_Missense_Mutation_p.R214H	p.R885H	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			25	3047	+			885					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2654G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972895	0.92919	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.51574	1.59;1.95;0.7;1.95;1.59;1.57;1.95	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.997;0.947;0.999;0.999	T	0.77616	-0.2521	10	0.66056	D	0.02	-18.1366	16.2973	0.82783	0.0:0.0:1.0:0.0	.	846;846;214;885;880	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	H	846;880;214;885;846;846;885	ENSP00000386704:R846H;ENSP00000386777:R880H;ENSP00000386329:R214H;ENSP00000074304:R885H;ENSP00000442149:R846H;ENSP00000387294:R846H;ENSP00000427722:R885H	ENSP00000074304:R885H	R	+	2	0	INPP4A	98559891	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.657000	0.98554	2.342000	0.79632	0.462000	0.41574	CGC		0.592	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		22	40	0	0	0	1	0	22	40				
KLHL26	55295	broad.mit.edu	37	19	18778931	18778931	+	Missense_Mutation	SNP	C	C	T	rs544827583		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18778931C>T	ENST00000300976.4	+	3	814	c.724C>T	c.(724-726)Ccg>Tcg	p.P242S	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	242	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ggcccggcggccgcgcgccAG	0.677																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(724-726)Ccg>Tcg		kelch-like family member 26							15.0	17.0	16.0					19																	18778931		2152	4213	6365	SO:0001583	missense	55295							g.chr19:18778931C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.724C>T	19.37:g.18778931C>T	ENSP00000300976:p.Pro242Ser					KLHL26_ENST00000599006.1_Intron	p.P242S	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	814	+			242			BACK.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.724C>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.066983	0.08388	.	.	ENSG00000167487	ENST00000300976	T	0.67523	-0.27	5.04	3.98	0.46160	BTB/Kelch-associated (2);	0.424017	0.26293	N	0.025210	T	0.40094	0.1103	N	0.02802	-0.49	0.25610	N	0.986506	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	9	.	.	.	.	13.4896	0.61386	0.0:0.5317:0.4683:0.0	.	242	Q53HC5	KLH26_HUMAN	S	242	ENSP00000300976:P242S	.	P	+	1	0	KLHL26	18639931	0.122000	0.22280	0.505000	0.27651	0.904000	0.53231	2.587000	0.46128	1.076000	0.40961	0.591000	0.81541	CCG		0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		8	11	0	0	0	1	0	8	11				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	265	0	0	0	1	0	6	265				
SIDT1	54847	broad.mit.edu	37	3	113342297	113342297	+	Missense_Mutation	SNP	G	G	A	rs199694823		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113342297G>A	ENST00000264852.4	+	22	2840	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	SIDT1_ENST00000393830.3_Missense_Mutation_p.R710H|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	705					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTGATATACCGCCCCAGGGAC	0.527																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2113-2115)cGc>cAc		SID1 transmembrane family, member 1							106.0	108.0	107.0					3																	113342297		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113342297G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2114G>A	3.37:g.113342297G>A	ENSP00000264852:p.Arg705His					SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R710H	p.R705H	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			22	2840	+			705					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2114G>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622090	0.66787	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22336	1.96;1.96	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000022	T	0.18002	0.0432	L	0.38175	1.15	0.58432	D	0.999997	P;B	0.35411	0.5;0.344	B;B	0.30855	0.074;0.121	T	0.03840	-1.0999	10	0.20519	T	0.43	-9.6898	18.4243	0.90604	0.0:0.0:1.0:0.0	.	710;705	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	H	705;710	ENSP00000264852:R705H;ENSP00000377416:R710H	ENSP00000264852:R705H	R	+	2	0	SIDT1	114824987	0.974000	0.33945	0.935000	0.37517	0.881000	0.50899	4.606000	0.61126	2.646000	0.89796	0.655000	0.94253	CGC		0.527	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		58	89	0	0	0	1	0	58	89				
HGFAC	3083	broad.mit.edu	37	4	3446574	3446574	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3446574C>T	ENST00000382774.3	+	8	985	c.870C>T	c.(868-870)aaC>aaT	p.N290N	HGFAC_ENST00000511533.1_Silent_p.N290N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	290	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCTTGGGGAACGGCACTGGGT	0.711																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(868-870)aaC>aaT		HGF activator							16.0	20.0	18.0					4																	3446574		2195	4289	6484	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446574C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.870C>T	4.37:g.3446574C>T						HGFAC_ENST00000511533.1_Silent_p.N290N	p.N290N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	8	985	+			290			Kringle.		Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.870C>T	CCDS3369.1																																																																																				0.711	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	1	0	0	0	1	0	3	1				
ZMYND8	23613	broad.mit.edu	37	20	45867591	45867591	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45867591C>T	ENST00000311275.7	-	15	2769	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	ZMYND8_ENST00000536340.1_Missense_Mutation_p.R866H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R839H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R859H|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R787H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R839H|ZMYND8_ENST00000461685.1_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	839	Poly-Gln.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ctgctgctgacgctgcATCTT	0.567																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2515-2517)cGt>cAt		zinc finger, MYND-type containing 8							39.0	44.0	43.0					20																	45867591		2095	4124	6219	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45867591C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2516G>A	20.37:g.45867591C>T	ENSP00000312237:p.Arg839His					ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R787H|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R839H|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R866H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R859H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R839H|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000446994.2_Intron	p.R839H			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2769	-			839			Poly-Gln.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2516G>A		.	.	.	.	.	.	.	.	.	.	C	19.55	3.848897	0.71603	.	.	ENSG00000101040	ENST00000311275;ENST00000471951;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000540497	D;D;D;D;D	0.86627	-1.92;-2.03;-1.94;-1.93;-2.15	5.38	5.38	0.77491	.	0.076907	0.47455	U	0.000224	D	0.93517	0.7931	.	.	.	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.976;0.996;0.999;0.991;0.976;0.991	D	0.93135	0.6536	9	0.46703	T	0.11	-2.8896	18.7253	0.91711	0.0:1.0:0.0:0.0	.	866;834;833;859;839;787;839	F5H0X3;Q2HXV7;Q5JV90;Q9ULU4-7;Q9ULU4;Q2HXV1;B7Z2A8	.;.;.;.;PKCB1_HUMAN;.;.	H	839;860;839;866;839;787	ENSP00000312237:R839H;ENSP00000379577:R839H;ENSP00000439800:R866H;ENSP00000348246:R839H;ENSP00000443086:R787H	ENSP00000312237:R839H	R	-	2	0	ZMYND8	45300998	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	5.896000	0.69822	2.513000	0.84729	0.491000	0.48974	CGT		0.567	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		23	43	0	0	0	1	0	23	43				
ZZEF1	23140	broad.mit.edu	37	17	4020385	4020385	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4020385C>T	ENST00000381638.2	-	3	699	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	192							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GAGCCGATTGCGGTGCAGGAA	0.507																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(574-576)cGc>cAc		zinc finger, ZZ-type with EF-hand domain 1							154.0	138.0	144.0					17																	4020385		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020385C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.575G>A	17.37:g.4020385C>T	ENSP00000371051:p.Arg192His					ZZEF1_ENST00000574474.1_5'UTR	p.R192H	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	699	-			192					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.575G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980197	0.74474	.	.	ENSG00000074755	ENST00000381638	T	0.34072	1.38	5.87	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.59161	-0.7506	10	0.87932	D	0	-14.7896	15.4127	0.74941	0.0:0.9324:0.0:0.0676	.	192;192	O43149-3;O43149	.;ZZEF1_HUMAN	H	192	ENSP00000371051:R192H	ENSP00000371051:R192H	R	-	2	0	ZZEF1	3967134	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	5.775000	0.68915	2.785000	0.95823	0.591000	0.81541	CGC		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	66	0	0	0	1	0	17	66				
TEX14	56155	broad.mit.edu	37	17	56679761	56679761	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56679761C>A	ENST00000240361.8	-	12	1630	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	TEX14_ENST00000349033.5_Splice_Site_p.K509N|TEX14_ENST00000389934.3_Splice_Site_p.K509N			Q8IWB6	TEX14_HUMAN	testis expressed 14	515	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCTTGCCTTTAAGTCAT	0.393																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e12+1		testis expressed 14							102.0	88.0	93.0					17																	56679761		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56679761C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1545+1G>T	17.37:g.56679761C>A						TEX14_ENST00000349033.5_Splice_Site_p.K509_splice|TEX14_ENST00000240361.8_Splice_Site_p.K515_splice	p.K509_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			12	1644	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		515			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	SNP	ENST00000240361.8	37	c.1527_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304863	0.60305	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.44083	0.93;0.93;0.93	6.04	6.04	0.98038	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239989	0.37012	N	0.002281	T	0.56934	0.2019	L	0.44542	1.39	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71414	0.94;0.973;0.973	T	0.47898	-0.9081	9	.	.	.	-15.4005	17.3141	0.87217	0.0:1.0:0.0:0.0	.	515;509;509	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	N	515;509;509	ENSP00000240361:K515N;ENSP00000374584:K509N;ENSP00000268910:K509N	.	K	-	3	2	TEX14	54034760	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	4.990000	0.63876	2.873000	0.98535	0.563000	0.77884	AAG		0.393	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Missense_Mutation	32	43	1	0	3.86903e-22	1	4.30158e-22	32	43				
PODN	127435	broad.mit.edu	37	1	53547765	53547765	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53547765C>T	ENST00000312553.5	+	10	1925	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	PODN_ENST00000395871.2_Missense_Mutation_p.R498C|PODN_ENST00000371500.3_Missense_Mutation_p.R621C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	592					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCAAGGACCGTGGCCGCTT	0.547																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1861-1863)Cgt>Tgt		podocan							79.0	76.0	77.0					1																	53547765		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53547765C>T	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1918C>T	1.37:g.53547765C>T	ENSP00000308315:p.Arg640Cys					PODN_ENST00000312553.5_Missense_Mutation_p.R640C|PODN_ENST00000395871.2_Missense_Mutation_p.R498C|RP11-334A14.5_ENST00000447867.1_RNA	p.R621C	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			12	2202	+			592					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1861C>T	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337294	0.60963	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.60171	0.91;0.21;0.99	4.63	4.63	0.57726	.	0.885835	0.09948	N	0.735045	T	0.44787	0.1310	N	0.08118	0	0.34450	D	0.700523	D;P;D	0.69078	0.997;0.954;0.995	P;B;P	0.51999	0.687;0.319;0.533	T	0.54166	-0.8334	10	0.87932	D	0	.	3.997	0.09563	0.1757:0.587:0.1483:0.089	.	498;621;640	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	C	621;498;640	ENSP00000360555:R621C;ENSP00000379212:R498C;ENSP00000308315:R640C	ENSP00000308315:R640C	R	+	1	0	PODN	53320353	0.827000	0.29292	0.986000	0.45419	0.976000	0.68499	2.548000	0.45794	2.277000	0.76020	0.655000	0.94253	CGT		0.547	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		18	23	0	0	0	1	0	18	23				
KLC2	64837	broad.mit.edu	37	11	66031140	66031140	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66031140C>T	ENST00000417856.1	+	6	1005	c.762C>T	c.(760-762)aaC>aaT	p.N254N	KLC2_ENST00000316924.5_Silent_p.N254N|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Silent_p.N115N|KLC2_ENST00000394067.2_Silent_p.N254N|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Silent_p.N177N|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000421552.1_Silent_p.N177N	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGATCAGAACAAGTACAAGG	0.597																																						ENST00000394065.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(343-345)aaC>aaT		kinesin light chain 2							113.0	97.0	102.0					11																	66031140		2200	4295	6495	SO:0001819	synonymous_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66031140C>T	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.762C>T	11.37:g.66031140C>T						KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Silent_p.N254N|KLC2_ENST00000394067.2_Silent_p.N254N|KLC2_ENST00000421552.1_Silent_p.N177N|KLC2_ENST00000394066.2_Silent_p.N177N|KLC2_ENST00000417856.1_Silent_p.N254N	p.N115N			Q9H0B6	KLC2_HUMAN			4	1363	+			254					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Silent	SNP	ENST00000417856.1	37	c.345C>T	CCDS8130.1																																																																																				0.597	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		13	16	0	0	0	1	0	13	16				
TAS2R13	50838	broad.mit.edu	37	12	11061452	11061452	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11061452T>C	ENST00000390677.2	-	1	709	c.446A>G	c.(445-447)aAc>aGc	p.N149S	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	149			N -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.N149S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TATATGCATGTTTATTTGTAT	0.353																																						ENST00000390677.2																			1	Substitution - Missense(1)	p.N149S(1)	breast(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(445-447)aAc>aGc		taste receptor, type 2, member 13							68.0	72.0	71.0					12																	11061452		2203	4300	6503	SO:0001583	missense	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061452T>C	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.446A>G	12.37:g.11061452T>C	ENSP00000375095:p.Asn149Ser					PRR4_ENST00000536668.1_Intron	p.N149S	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	709	-			149		N -> S (in a breast cancer sample; somatic mutation).			Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	c.446A>G	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458358	0.12342	.	.	ENSG00000212128	ENST00000390677	T	0.36157	1.27	2.74	0.39	0.16275	.	1.380420	0.04808	N	0.434735	T	0.34890	0.0913	L	0.48218	1.51	0.09310	N	1	B	0.28880	0.226	B	0.37091	0.241	T	0.37056	-0.9722	10	0.38643	T	0.18	.	4.6502	0.12591	0.0:0.2756:0.0:0.7244	.	149	Q9NYV9	T2R13_HUMAN	S	149	ENSP00000375095:N149S	ENSP00000375095:N149S	N	-	2	0	TAS2R13	10952719	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.900000	0.04097	0.058000	0.16222	0.533000	0.62120	AAC		0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			26	49	0	0	0	1	0	26	49				
XIRP1	165904	broad.mit.edu	37	3	39227656	39227656	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39227656C>T	ENST00000340369.3	-	2	3509	c.3281G>A	c.(3280-3282)cGg>cAg	p.R1094Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1094					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCTTTCCGAAGACCGTC	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3280-3282)cGg>cAg		xin actin-binding repeat containing 1							60.0	59.0	59.0					3																	39227656		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39227656C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3281G>A	3.37:g.39227656C>T	ENSP00000343140:p.Arg1094Gln					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q	p.R1094Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3509	-			1094					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3281G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.213438	0.00289	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04603	3.59;4.1	2.72	-5.43	0.02632	.	8.845330	0.02454	U	0.085859	T	0.02571	0.0078	N	0.12182	0.205	0.09310	N	1	B;B	0.33238	0.403;0.395	B;B	0.29785	0.05;0.107	T	0.35871	-0.9771	10	0.12430	T	0.62	.	7.1983	0.25866	0.1705:0.3289:0.5006:0.0	.	1094;1094	Q702N8;Q702N8-2	XIRP1_HUMAN;.	Q	1094	ENSP00000379550:R1094Q;ENSP00000343140:R1094Q	ENSP00000343140:R1094Q	R	-	2	0	XIRP1	39202660	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-4.228000	0.00270	-1.881000	0.01123	-0.271000	0.10264	CGG		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		31	33	0	0	0	1	0	31	33				
TRIP10	9322	broad.mit.edu	37	19	6743769	6743769	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6743769C>T	ENST00000313244.9	+	7	599	c.564C>T	c.(562-564)aaC>aaT	p.N188N	TRIP10_ENST00000600428.1_Silent_p.N80N|TRIP10_ENST00000596758.1_Silent_p.N188N|TRIP10_ENST00000313285.8_Silent_p.N188N			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	188	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAAGCAAAAACGAATATGCGG	0.527																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(238-240)aaC>aaT		thyroid hormone receptor interactor 10							183.0	160.0	168.0					19																	6743769		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743769C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.564C>T	19.37:g.6743769C>T						TRIP10_ENST00000313285.8_Silent_p.N188N|TRIP10_ENST00000596758.1_Silent_p.N188N|TRIP10_ENST00000313244.9_Silent_p.N188N	p.N80N			Q15642	CIP4_HUMAN			7	886	+			188			Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.240C>T																																																																																					0.527	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			19	25	0	0	0	1	0	19	25				
MS4A8	83661	broad.mit.edu	37	11	60482851	60482851	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60482851A>G	ENST00000300226.2	+	7	920	c.717A>G	c.(715-717)ccA>ccG	p.P239P		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	239						integral component of membrane (GO:0016021)											TGACCTCACCACCAAGTTATT	0.488																																						ENST00000300226.2																			0											c.(715-717)ccA>ccG		membrane-spanning 4-domains, subfamily A, member 8							122.0	111.0	115.0					11																	60482851		2203	4300	6503	SO:0001819	synonymous_variant	83661							g.chr11:60482851A>G	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.717A>G	11.37:g.60482851A>G							p.P239P	NM_031457.1	NP_113645.1					7	920	+								Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.717A>G	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	A	7.486	0.649624	0.14516	.	.	ENSG00000166959	ENST00000529752	T	0.16457	2.34	4.22	-2.75	0.05914	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36720	-0.9736	6	0.87932	D	0	0.1539	4.5689	0.12200	0.3599:0.0:0.4614:0.1787	.	.	.	.	A	222	ENSP00000436857:T222A	ENSP00000436857:T222A	T	+	1	0	MS4A8B	60239427	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.664000	0.05292	-0.255000	0.09486	0.459000	0.35465	ACC		0.488	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			12	15	0	0	0	1	0	12	15				
C16orf91	283951	broad.mit.edu	37	16	1478455	1478455	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1478455T>C	ENST00000310355.1	-	2	195	c.196A>G	c.(196-198)Agc>Ggc	p.S66G				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAGGCCGAGCTGAGGTCCACC	0.682																																						ENST00000310355.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(196-198)Agc>Ggc		chromosome 16 open reading frame 91							39.0	38.0	38.0					16																	1478455		2192	4299	6491	SO:0001583	missense	283951					integral to membrane		g.chr16:1478455T>C	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.196A>G	16.37:g.1478455T>C	ENSP00000311390:p.Ser66Gly						p.S66G			Q4G0I0	CSMT1_HUMAN			2	195	-			0					Q96RZ0	Missense_Mutation	SNP	ENST00000310355.1	37	c.196A>G	CCDS32360.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970279	0.34754	.	.	ENSG00000174109	ENST00000310355	.	.	.	1.21	0.0562	0.14318	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36962	-0.9726	5	0.87932	D	0	.	3.0628	0.06205	0.0:0.2785:0.0:0.7215	.	.	.	.	G	66	.	ENSP00000311390:S66G	S	-	1	0	C16orf91	1418456	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-2.694000	0.00828	-0.007000	0.14345	-0.415000	0.06103	AGC		0.682	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		9	10	0	0	0	1	0	9	10				
PTBP1	5725	broad.mit.edu	37	19	804602	804602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:804602C>T	ENST00000349038.4	+	6	579	c.506C>T	c.(505-507)gCg>gTg	p.A169V	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A169V|PTBP1_ENST00000356948.6_Missense_Mutation_p.A169V|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	169					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GCCTCGGCGGCGGCCGTGGAC	0.701																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(505-507)gCg>gTg		polypyrimidine tract binding protein 1							33.0	36.0	35.0					19																	804602		2197	4283	6480	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804602C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.506C>T	19.37:g.804602C>T	ENSP00000014112:p.Ala169Val					PTBP1_ENST00000394601.4_Missense_Mutation_p.A169V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A169V	p.A169V	NM_002819.4	NP_002810.1	P26599	PTBP1_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)	6	929	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	169					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.506C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241399	0.22711	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.46819	0.86;0.86;1.13	4.81	4.81	0.61882	.	0.113109	0.64402	D	0.000016	T	0.40297	0.1111	L	0.33485	1.01	0.80722	D	1	B;B;B	0.24675	0.109;0.091;0.055	B;B;B	0.20577	0.03;0.021;0.016	T	0.36040	-0.9764	10	0.66056	D	0.02	-26.7713	16.9057	0.86127	0.0:1.0:0.0:0.0	.	169;169;169	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	169	ENSP00000349428:A169V;ENSP00000408096:A169V;ENSP00000014112:A169V	ENSP00000014112:A169V	A	+	2	0	PTBP1	755602	0.998000	0.40836	0.042000	0.18584	0.008000	0.06430	4.192000	0.58378	2.223000	0.72356	0.655000	0.94253	GCG		0.701	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			17	23	0	0	0	1	0	17	23				
COL4A3	1285	broad.mit.edu	37	2	228134636	228134636	+	Silent	SNP	C	C	T	rs200416402		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228134636C>T	ENST00000396578.3	+	24	1677	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	505	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACAAGGCGCAGCTGGCT	0.398													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.0					ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1513-1515)ggC>ggT		collagen, type IV, alpha 3 (Goodpasture antigen)							84.0	87.0	86.0					2																	228134636		1886	4117	6003	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228134636C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1515C>T	2.37:g.228134636C>T						AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.G505G	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	24	1677	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	505			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.1515C>T	CCDS42829.1																																																																																				0.398	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		11	15	0	0	0	1	0	11	15				
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(763-765)cGc>cAc		ZFP42 zinc finger protein							82.0	83.0	83.0					4																	188924725		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924725G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.764G>A	4.37:g.188924725G>A	ENSP00000317686:p.Arg255His					ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1172	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	255					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.764G>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180323	0.57800	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.98792	-5.14;-5.14	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063070	0.64402	D	0.000006	D	0.97936	0.9321	L	0.55834	1.745	0.37700	D	0.924187	D	0.89917	1.0	P	0.54759	0.76	D	0.98586	1.0652	10	0.56958	D	0.05	.	10.8275	0.46643	0.0938:0.0:0.9062:0.0	.	255	Q96MM3	ZFP42_HUMAN	H	255	ENSP00000317686:R255H;ENSP00000424662:R255H	ENSP00000317686:R255H	R	+	2	0	ZFP42	189161719	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	7.563000	0.82314	1.443000	0.47586	0.655000	0.94253	CGC		0.498	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		20	35	0	0	0	1	0	20	35				
NYAP1	222950	broad.mit.edu	37	7	100086757	100086757	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100086757G>A	ENST00000300179.2	+	4	1572	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	NYAP1_ENST00000423930.1_Silent_p.T471T|NYAP1_ENST00000454988.1_Silent_p.T414T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	471					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGGTGACCACGCACTCTGTCC	0.672																																						ENST00000423930.1																			0											c.(1411-1413)acG>acA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							36.0	37.0	37.0					7																	100086757		2202	4299	6501	SO:0001819	synonymous_variant	222950							g.chr7:100086757G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1413G>A	7.37:g.100086757G>A						NYAP1_ENST00000300179.2_Silent_p.T471T|NYAP1_ENST00000454988.1_Silent_p.T414T	p.T471T			Q6ZVC0	CG051_HUMAN			4	1572	+			471					Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	c.1413G>A	CCDS5696.1																																																																																				0.672	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		4	7	0	0	0	1	0	4	7				
KLK6	5653	broad.mit.edu	37	19	51466703	51466703	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51466703G>A	ENST00000376851.3	-	4	739	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.A100A|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000456750.2_5'Flank|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Silent_p.A100A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CATGGCTGGCGGCATCATAGT	0.582																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(298-300)gcC>gcT		kallikrein-related peptidase 6							81.0	63.0	69.0					19																	51466703		2203	4300	6503	SO:0001819	synonymous_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466703G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.300C>T	19.37:g.51466703G>A						KLK6_ENST00000310157.2_Silent_p.A100A|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000594641.1_Silent_p.A100A|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron	p.A100A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	739	-		all_neural(266;0.026)	100			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	c.300C>T	CCDS12811.1																																																																																				0.582	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		12	13	0	0	0	1	0	12	13				
BCAR1	9564	broad.mit.edu	37	16	75268802	75268802	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75268802G>T	ENST00000162330.5	-	5	2121	c.1995C>A	c.(1993-1995)gaC>gaA	p.D665E	BCAR1_ENST00000538440.2_Missense_Mutation_p.D665E|BCAR1_ENST00000393420.6_Missense_Mutation_p.D683E|BCAR1_ENST00000420641.3_Missense_Mutation_p.D683E|BCAR1_ENST00000418647.3_Missense_Mutation_p.D711E|BCAR1_ENST00000542031.2_Missense_Mutation_p.D663E|BCAR1_ENST00000546196.1_Missense_Mutation_p.D636E|BCAR1_ENST00000393422.2_Missense_Mutation_p.D683E|BCAR1_ENST00000535626.2_Missense_Mutation_p.D517E|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	665					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGGACGTAGTCATAGTCCT	0.642																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1906-1908)gaC>gaA		breast cancer anti-estrogen resistance 1							49.0	51.0	50.0					16																	75268802		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75268802G>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1995C>A	16.37:g.75268802G>T	ENSP00000162330:p.Asp665Glu					BCAR1_ENST00000393420.6_Missense_Mutation_p.D683E|BCAR1_ENST00000542031.2_Missense_Mutation_p.D663E|BCAR1_ENST00000538440.2_Missense_Mutation_p.D665E|BCAR1_ENST00000420641.3_Missense_Mutation_p.D683E|BCAR1_ENST00000535626.2_Missense_Mutation_p.D517E|BCAR1_ENST00000393422.2_Missense_Mutation_p.D683E|BCAR1_ENST00000418647.3_Missense_Mutation_p.D711E|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.D665E	p.D636E			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	3560	-			665					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1908C>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147004	0.77888	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.99	4.99	0.66335	CAS family, DUF3513 (1);	0.154237	0.56097	D	0.000038	T	0.52805	0.1757	M	0.78456	2.415	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.99;0.996;0.997;0.999;0.997;0.999	D;D;D;P;D;D;D;D;D	0.79108	0.992;0.923;0.992;0.875;0.987;0.992;0.923;0.992;0.954	T	0.57481	-0.7804	10	0.72032	D	0.01	-34.1522	16.1991	0.82057	0.0:0.0:1.0:0.0	.	683;517;711;663;683;683;665;665;455	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	E	665;683;683;665;711;517;683;663;636	ENSP00000162330:D665E;ENSP00000377074:D683E;ENSP00000392708:D683E;ENSP00000443841:D665E;ENSP00000391669:D711E;ENSP00000440370:D517E;ENSP00000377072:D683E;ENSP00000440415:D663E;ENSP00000442161:D636E	ENSP00000162330:D665E	D	-	3	2	BCAR1	73826303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.165000	0.42396	2.492000	0.84095	0.558000	0.71614	GAC		0.642	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		16	24	1	0	1.15088e-07	1	1.20771e-07	16	24				
ATP6V0A1	535	broad.mit.edu	37	17	40652859	40652859	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40652859C>T	ENST00000343619.4	+	16	1937	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A612V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A251V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A605V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	605					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTGAGAATGCACCAAGCCTT	0.408																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1813-1815)gCa>gTa		ATPase, H+ transporting, lysosomal V0 subunit a1							223.0	200.0	208.0					17																	40652859		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40652859C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1814C>T	17.37:g.40652859C>T	ENSP00000342951:p.Ala605Val					ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A251V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A605V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A562V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A612V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A562V	p.A605V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	16	1937	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	605					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1814C>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545099	0.96488	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.94889	0.8348	M	0.90977	3.165	0.80722	D	1	D;D;D;P;D	0.67145	0.986;0.994;0.994;0.952;0.996	P;D;D;P;D	0.73708	0.9;0.981;0.973;0.901;0.964	D	0.95675	0.8727	10	0.87932	D	0	-15.2552	18.6406	0.91394	0.0:1.0:0.0:0.0	.	562;562;612;605;605	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	V	605;605;605;612;562;251	ENSP00000342951:A605V;ENSP00000444676:A605V;ENSP00000377415:A605V;ENSP00000264649:A612V;ENSP00000443991:A562V;ENSP00000446377:A251V	ENSP00000264649:A612V	A	+	2	0	ATP6V0A1	37906385	1.000000	0.71417	0.798000	0.32154	0.998000	0.95712	7.609000	0.82925	2.716000	0.92895	0.561000	0.74099	GCA		0.408	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		43	71	0	0	0	1	0	43	71				
SUGP2	10147	broad.mit.edu	37	19	19136509	19136509	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19136509T>C	ENST00000601879.1	-	3	945	c.648A>G	c.(646-648)ctA>ctG	p.L216L	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Silent_p.L216L|SUGP2_ENST00000600377.1_Silent_p.L230L|SUGP2_ENST00000337018.6_Silent_p.L216L|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	216					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAACGATGTTTAGAGCTCGAC	0.557																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(646-648)ctA>ctG		SURP and G patch domain containing 2							85.0	75.0	79.0					19																	19136509		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136509T>C	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.648A>G	19.37:g.19136509T>C						SUGP2_ENST00000337018.6_Silent_p.L216L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Silent_p.L216L|SUGP2_ENST00000600377.1_Silent_p.L230L	p.L216L			Q8IX01	SUGP2_HUMAN			3	945	-			216					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.648A>G	CCDS12392.1																																																																																				0.557	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		23	43	0	0	0	1	0	23	43				
RASGRF2	5924	broad.mit.edu	37	5	80369158	80369158	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80369158C>T	ENST00000265080.4	+	5	841	c.774C>T	c.(772-774)taC>taT	p.Y258Y	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	258	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGTCAGAGTACGTTCACCAGC	0.537																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(772-774)taC>taT		Ras protein-specific guanine nucleotide-releasing factor 2							165.0	142.0	150.0					5																	80369158		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369158C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.774C>T	5.37:g.80369158C>T						RASGRF2_ENST00000502677.1_3'UTR	p.Y258Y	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	841	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	258			DH.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.774C>T	CCDS4052.1																																																																																				0.537	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		10	54	0	0	0	1	0	10	54				
PAXIP1	22976	broad.mit.edu	37	7	154767949	154767949	+	Silent	SNP	G	G	A	rs117838262	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154767949G>A	ENST00000404141.1	-	6	685	c.531C>T	c.(529-531)gaC>gaT	p.D177D	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.D177D			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	177	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAAATGCTTCGTCCTTTTTGG	0.403													G|||	2	0.000399361	0.0	0.0	5008	,	,		19146	0.002		0.0	False		,,,				2504	0.0					ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(529-531)gaC>gaT		PAX interacting (with transcription-activation domain) protein 1							80.0	73.0	75.0					7																	154767949		1903	4142	6045	SO:0001819	synonymous_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767949G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.531C>T	7.37:g.154767949G>A						PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.D177D	p.D177D			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	685	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	177			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	ENST00000404141.1	37	c.531C>T	CCDS47753.1																																																																																				0.403	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		23	23	0	0	0	1	0	23	23				
ZP4	57829	broad.mit.edu	37	1	238053225	238053225	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:238053225C>T	ENST00000366570.4	-	3	500	c.342G>A	c.(340-342)gcG>gcA	p.A114A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	114			A -> V (in dbSNP:rs34370253).		acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTGTTCAGCCGCGCCTGCTC	0.572																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(340-342)gcG>gcA		zona pellucida glycoprotein 4							202.0	209.0	206.0					1																	238053225		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053225C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.342G>A	1.37:g.238053225C>T						RP11-193H5.1_ENST00000450451.1_RNA	p.A114A	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	500	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	114		A -> V (in dbSNP:rs34370253).			B2RAE1	Silent	SNP	ENST00000366570.4	37	c.342G>A	CCDS1615.1																																																																																				0.572	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			57	99	0	0	0	1	0	57	99				
RAI1	10743	broad.mit.edu	37	17	17696281	17696281	+	Missense_Mutation	SNP	A	A	G	rs201842299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17696281A>G	ENST00000353383.1	+	3	488	c.19A>G	c.(19-21)Agg>Ggg	p.R7G	RAI1_ENST00000261641.6_Missense_Mutation_p.R7G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	7					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTTTCGAGAAAGGTGTGGTTT	0.557																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(19-21)Agg>Ggg		retinoic acid induced 1							44.0	46.0	45.0					17																	17696281		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696281A>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.19A>G	17.37:g.17696281A>G	ENSP00000323074:p.Arg7Gly					RAI1_ENST00000261641.6_Missense_Mutation_p.R7G	p.R7G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	488	+			7					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.19A>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500471	0.64298	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.72394	-0.65;2.1;-0.07	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.81108	0.4754	M	0.62723	1.935	0.42552	D	0.993119	D	0.71674	0.998	D	0.76071	0.987	D	0.83454	0.0050	10	0.72032	D	0.01	.	13.3841	0.60785	1.0:0.0:0.0:0.0	.	7	Q7Z5J4	RAI1_HUMAN	G	7	ENSP00000323074:R7G;ENSP00000379120:R7G;ENSP00000261641:R7G	ENSP00000261641:R7G	R	+	1	2	RAI1	17637006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.301000	0.59086	1.639000	0.50556	0.379000	0.24179	AGG		0.557	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	12	0	0	0	1	0	8	12				
TMEM255B	348013	broad.mit.edu	37	13	114469150	114469150	+	Missense_Mutation	SNP	G	G	A	rs149974408		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114469150G>A	ENST00000375353.3	+	2	136	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	37						integral component of membrane (GO:0016021)											GCTGGTGTCCGTCCTCATAGT	0.632																																						ENST00000375353.3																			0											c.(109-111)Gtc>Atc		transmembrane protein 255B		G	ILE/VAL	0,4406		0,0,2203	140.0	104.0	116.0		109	-1.8	0.0	13	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM70B	NM_182614.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	37/327	114469150	1,13005	2203	4300	6503	SO:0001583	missense	348013							g.chr13:114469150G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.109G>A	13.37:g.114469150G>A	ENSP00000364502:p.Val37Ile						p.V37I	NM_182614.2	NP_872420.1					2	136	+									Missense_Mutation	SNP	ENST00000375353.3	37	c.109G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	g	4.849	0.157786	0.09236	0.0	1.16E-4	ENSG00000184497	ENST00000375353	T	0.44482	0.92	4.42	-1.76	0.08006	.	.	.	.	.	T	0.28400	0.0702	L	0.41961	1.31	0.09310	N	1	B;B	0.22346	0.068;0.054	B;B	0.15870	0.014;0.007	T	0.22941	-1.0202	9	0.22706	T	0.39	-2.191	6.4874	0.22097	0.4882:0.1278:0.384:0.0	.	37;37	B4DIK8;Q8WV15	.;FA70B_HUMAN	I	37	ENSP00000364502:V37I	ENSP00000364502:V37I	V	+	1	0	FAM70B	113644793	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.933000	0.03959	-0.329000	0.08527	0.313000	0.20887	GTC		0.632	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		8	51	0	0	0	1	0	8	51				
ARMC6	93436	broad.mit.edu	37	19	19154809	19154809	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19154809C>T	ENST00000535612.1	+	4	637	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Silent_p.L44L|ARMC6_ENST00000392336.3_Silent_p.L69L|ARMC6_ENST00000392335.2_Silent_p.L44L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	69					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGGGGTTGATCTGAGCAACAT	0.572																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(205-207)Ctg>Ttg		armadillo repeat containing 6							92.0	81.0	85.0					19																	19154809		2203	4300	6503	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19154809C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.205C>T	19.37:g.19154809C>T						ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392335.2_Silent_p.L44L|ARMC6_ENST00000269932.6_Silent_p.L44L|ARMC6_ENST00000392336.3_Silent_p.L69L	p.L69L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		4	637	+			69					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.205C>T	CCDS56089.1																																																																																				0.572	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		14	28	0	0	0	1	0	14	28				
KLHL11	55175	broad.mit.edu	37	17	40010842	40010842	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40010842T>C	ENST00000319121.3	-	2	1337	c.1277A>G	c.(1276-1278)tAt>tGt	p.Y426C		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	426										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATTTGGGTTATACCTTTCTAC	0.398																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1276-1278)tAt>tGt		kelch-like family member 11							124.0	123.0	123.0					17																	40010842		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010842T>C		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1277A>G	17.37:g.40010842T>C	ENSP00000314608:p.Tyr426Cys						p.Y426C	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	1337	-		Breast(137;0.00156)	426						Missense_Mutation	SNP	ENST00000319121.3	37	c.1277A>G	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.259150	0.59321	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.87966	-2.32	5.42	5.42	0.78866	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97277	0.9915	10	0.87932	D	0	-0.2773	15.7504	0.77980	0.0:0.0:0.0:1.0	.	426	Q9NVR0	KLH11_HUMAN	C	426;289	ENSP00000314608:Y426C	ENSP00000314608:Y426C	Y	-	2	0	KLHL11	37264368	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.559000	0.82265	2.170000	0.68504	0.482000	0.46254	TAT		0.398	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		57	72	0	0	0	1	0	57	72				
TLN1	7094	broad.mit.edu	37	9	35700341	35700341	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35700341G>T	ENST00000314888.9	-	49	6860	c.6507C>A	c.(6505-6507)acC>acA	p.T2169T	TLN1_ENST00000540444.1_Silent_p.T2057T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2169					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGGGTAGAGGTCTTGGCAG	0.522																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6505-6507)acC>acA		talin 1							64.0	65.0	65.0					9																	35700341		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700341G>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6507C>A	9.37:g.35700341G>T						TLN1_ENST00000540444.1_Silent_p.T2057T	p.T2169T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6860	-	all_epithelial(49;0.167)		2169					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.6507C>A	CCDS35009.1																																																																																				0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		26	29	1	0	1.16021e-09	1	1.23406e-09	26	29				
BCKDK	10295	broad.mit.edu	37	16	31123313	31123313	+	Silent	SNP	C	C	T	rs534671893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31123313C>T	ENST00000394951.1	+	12	1682	c.1059C>T	c.(1057-1059)gaC>gaT	p.D353D	BCKDK_ENST00000394950.3_Silent_p.D353D|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.D353D|BCKDK_ENST00000287507.3_Silent_p.D323D			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	353	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GCCATCTGGACATGCATAGTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17252	0.0		0.0	False		,,,				2504	0.001					ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(1057-1059)gaC>gaT		branched chain ketoacid dehydrogenase kinase							51.0	48.0	49.0					16																	31123313		2197	4300	6497	SO:0001819	synonymous_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31123313C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.1059C>T	16.37:g.31123313C>T						BCKDK_ENST00000394950.3_Silent_p.D353D|BCKDK_ENST00000287507.3_Silent_p.D323D|BCKDK_ENST00000219794.6_Silent_p.D353D	p.D353D			O14874	BCKD_HUMAN			12	1682	+			353			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	ENST00000394951.1	37	c.1059C>T	CCDS10705.1																																																																																				0.622	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		5	27	0	0	0	1	0	5	27				
KLHL25	64410	broad.mit.edu	37	15	86312337	86312337	+	Silent	SNP	G	G	A	rs369313286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86312337G>A	ENST00000337975.5	-	2	979	c.705C>T	c.(703-705)agC>agT	p.S235S	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.S235S|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	235	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.S235S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCAGACGCACGCTGCGGAGGA	0.657																																						ENST00000337975.5																			1	Substitution - coding silent(1)	p.S235S(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(703-705)agC>agT		kelch-like family member 25							42.0	35.0	37.0					15																	86312337		2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312337G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.705C>T	15.37:g.86312337G>A						KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.S235S	p.S235S	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	979	-			235					B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.705C>T	CCDS10339.1																																																																																				0.657	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		4	12	0	0	0	1	0	4	12				
SVEP1	79987	broad.mit.edu	37	9	113194840	113194840	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113194840A>G	ENST00000401783.2	-	31	5471	c.5135T>C	c.(5134-5136)gTa>gCa	p.V1712A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1689A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1712	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGTAGGTTACTGTGCTGCC	0.502																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5134-5136)gTa>gCa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							140.0	137.0	138.0					9																	113194840		1972	4145	6117	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194840A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5135T>C	9.37:g.113194840A>G	ENSP00000384917:p.Val1712Ala					SVEP1_ENST00000374469.1_Missense_Mutation_p.V1689A	p.V1712A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			31	5471	-			1712			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5135T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	32	5.167659	0.94768	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.70399	-0.48;-0.48	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.058618	0.64402	D	0.000002	T	0.81143	0.4761	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78406	-0.2216	10	0.27785	T	0.31	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1712	Q4LDE5	SVEP1_HUMAN	A	1712;1689	ENSP00000384917:V1712A;ENSP00000363593:V1689A	ENSP00000363593:V1689A	V	-	2	0	SVEP1	112234661	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	8.960000	0.93117	2.217000	0.71921	0.533000	0.62120	GTA		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	66	0	0	0	1	0	16	66				
UTRN	7402	broad.mit.edu	37	6	145069579	145069579	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:145069579G>A	ENST00000367545.3	+	54	8137	c.8137G>A	c.(8137-8139)Gtg>Atg	p.V2713M	UTRN_ENST00000367526.4_Missense_Mutation_p.V268M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2713					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGCAGAGTCCGTGCGGAATGG	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8137-8139)Gtg>Atg		utrophin							85.0	83.0	84.0					6																	145069579		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145069579G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8137G>A	6.37:g.145069579G>A	ENSP00000356515:p.Val2713Met					UTRN_ENST00000367526.4_Missense_Mutation_p.V268M	p.V2713M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	54	8137	+		Ovarian(120;0.218)	2713					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8137G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817757	0.71028	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.50548	0.74;0.74	5.62	5.62	0.85841	.	0.000000	0.45867	D	0.000323	T	0.53674	0.1811	L	0.57536	1.79	0.42403	D	0.99257	D	0.67145	0.996	P	0.56127	0.792	T	0.52779	-0.8530	10	0.49607	T	0.09	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	2713	P46939	UTRO_HUMAN	M	2713;268	ENSP00000356515:V2713M;ENSP00000356496:V268M	ENSP00000356496:V268M	V	+	1	0	UTRN	145111272	1.000000	0.71417	0.608000	0.28969	0.157000	0.22087	5.381000	0.66208	2.637000	0.89404	0.563000	0.77884	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			24	43	0	0	0	1	0	24	43				
RAD18	56852	broad.mit.edu	37	3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	227					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(679-681)Gaa>Aaa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							183.0	187.0	186.0					3																	8981263		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8981263C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.679G>A	3.37:g.8981263C>T	ENSP00000264926:p.Glu227Lys						p.E227K	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	6	795	-			227					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.679G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308529	0.81247	.	.	ENSG00000070950	ENST00000264926	T	0.23754	1.89	5.87	5.87	0.94306	.	0.282060	0.40064	N	0.001186	T	0.29389	0.0732	M	0.70275	2.135	0.53688	D	0.999975	B	0.31125	0.309	B	0.27500	0.08	T	0.12218	-1.0556	10	0.10377	T	0.69	-8.7997	18.7722	0.91896	0.0:1.0:0.0:0.0	.	227	Q9NS91	RAD18_HUMAN	K	227	ENSP00000264926:E227K	ENSP00000264926:E227K	E	-	1	0	RAD18	8956263	0.993000	0.37304	0.588000	0.28705	0.936000	0.57629	7.266000	0.78452	2.774000	0.95407	0.650000	0.86243	GAA		0.403	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		9	56	0	0	0	1	0	9	56				
PWWP2B	170394	broad.mit.edu	37	10	134218982	134218982	+	Silent	SNP	G	G	A	rs369362715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:134218982G>A	ENST00000305233.5	+	2	1037	c.978G>A	c.(976-978)gcG>gcA	p.A326A	PWWP2B_ENST00000368609.4_Silent_p.A326A	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	326										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGGCCGGCGCGGACCTGCCGC	0.716																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(976-978)gcG>gcA		PWWP domain containing 2B		G	,	1,4055		0,1,2027	9.0	14.0	12.0		978,978	-9.3	0.0	10		12	0,8170		0,0,4085	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	0,1,6112	AA,AG,GG		0.0,0.0247,0.0082	,	326/500,326/591	134218982	1,12225	2028	4085	6113	SO:0001819	synonymous_variant	170394							g.chr10:134218982G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.978G>A	10.37:g.134218982G>A						PWWP2B_ENST00000368609.4_Silent_p.A326A	p.A326A	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1037	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	326					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.978G>A	CCDS7667.2																																																																																				0.716	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		13	9	0	0	0	1	0	13	9				
CHIC2	26511	broad.mit.edu	37	4	54915146	54915146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:54915146C>T	ENST00000263921.3	-	3	695	c.306G>A	c.(304-306)tgG>tgA	p.W102*	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Nonsense_Mutation_p.W102*	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	102						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AAATAACTGGCCACATACTGC	0.343			T	ETV6	AML																																	ENST00000263921.3				Dom	yes		4	4q11-q12	26511	T	cysteine-rich hydrophobic domain 2			L	ETV6		AML		0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(304-306)tgG>tgA		cysteine-rich hydrophobic domain 2							27.0	23.0	25.0					4																	54915146		2198	4294	6492	SO:0001587	stop_gained	26511					plasma membrane	protein binding	g.chr4:54915146C>T	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.306G>A	4.37:g.54915146C>T	ENSP00000263921:p.Trp102*					CHIC2_ENST00000512964.1_Nonsense_Mutation_p.W102*|FIP1L1_ENST00000507166.1_Intron	p.W102*	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		3	695	-	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		102					B2R639	Nonsense_Mutation	SNP	ENST00000263921.3	37	c.306G>A	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	C	38	6.786289	0.97837	.	.	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8143	20.0695	0.97716	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000263921:W102X	W	-	3	0	CHIC2	54609903	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.380000	0.79704	2.761000	0.94854	0.585000	0.79938	TGG		0.343	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2			9	8	0	0	0	1	0	9	8				
NPHP4	261734	broad.mit.edu	37	1	5924497	5924497	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5924497G>A	ENST00000378156.4	-	28	4162	c.3897C>T	c.(3895-3897)ggC>ggT	p.G1299G	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1299					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAGCGGCTGCCGGCCCTAA	0.647																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(3895-3897)ggC>ggT		nephronophthisis 4							16.0	22.0	20.0					1																	5924497		2021	4160	6181	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5924497G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3897C>T	1.37:g.5924497G>A						NPHP4_ENST00000478423.2_5'UTR	p.G1299G	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	28	4162	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1299					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.3897C>T	CCDS44052.1																																																																																				0.647	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			6	14	0	0	0	1	0	6	14				
PRPF38B	55119	broad.mit.edu	37	1	109241902	109241902	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109241902C>T	ENST00000370025.4	+	6	1170	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R190C	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	301	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGAGAAAGAACGCCAGCGACT	0.517																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(568-570)Cgc>Tgc		pre-mRNA processing factor 38B							72.0	76.0	75.0					1																	109241902		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241902C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.901C>T	1.37:g.109241902C>T	ENSP00000359042:p.Arg301Cys					PRPF38B_ENST00000370025.4_Missense_Mutation_p.R301C	p.R190C			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1205	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	301					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.568C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955059	0.53293	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.23348	1.91;2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.13548	-1.0505	10	0.72032	D	0.01	.	19.8041	0.96521	0.0:1.0:0.0:0.0	.	301	Q5VTL8	PR38B_HUMAN	C	301;190	ENSP00000359042:R301C;ENSP00000359038:R190C	ENSP00000359038:R190C	R	+	1	0	PRPF38B	109043425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.092000	0.76930	2.698000	0.92095	0.591000	0.81541	CGC		0.517	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		14	30	0	0	0	1	0	14	30				
OR4D10	390197	broad.mit.edu	37	11	59245449	59245449	+	Missense_Mutation	SNP	C	C	T	rs370794946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59245449C>T	ENST00000530162.1	+	1	604	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R181W(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGTCCACCGGGTCCTCAA	0.493																																						ENST00000530162.1																			1	Substitution - Missense(1)	p.R181W(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(547-549)Cgg>Tgg		olfactory receptor, family 4, subfamily D, member 10							101.0	102.0	101.0					11																	59245449		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245449C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.547C>T	11.37:g.59245449C>T	ENSP00000436424:p.Arg183Trp						p.R183W	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	604	+			183					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.547C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982239	0.18889	.	.	ENSG00000254466	ENST00000530162	T	0.00137	8.68	4.71	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.30889	0.299	B	0.28385	0.089	T	0.37502	-0.9703	9	0.87932	D	0	.	11.7531	0.51859	0.0:0.9122:0.0:0.0878	.	183	Q8NGI6	OR4DA_HUMAN	W	183	ENSP00000436424:R183W	ENSP00000436424:R183W	R	+	1	2	OR4D10	59002025	0.005000	0.15991	0.988000	0.46212	0.286000	0.27126	1.929000	0.40114	1.099000	0.41499	0.655000	0.94253	CGG		0.493	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		14	82	0	0	0	1	0	14	82				
SRM	6723	broad.mit.edu	37	1	11119363	11119363	+	Silent	SNP	G	G	A	rs34097618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11119363G>A	ENST00000376957.2	-	2	287	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	69	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCGTGCACTGGATGACACCGT	0.612																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(205-207)atC>atT		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						131.0	117.0	121.0					1																	11119363		2203	4300	6503	SO:0001819	synonymous_variant	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11119363G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.207C>T	1.37:g.11119363G>A							p.I69I	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	2	287	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	69					B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	c.207C>T	CCDS125.1																																																																																				0.612	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		30	33	0	0	0	1	0	30	33				
NUMA1	4926	broad.mit.edu	37	11	71725990	71725990	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725990C>A	ENST00000393695.3	-	15	2890	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	NUMA1_ENST00000358965.6_Missense_Mutation_p.K853N|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCACCTTCTCCTTTGCCTCCT	0.582			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(2557-2559)aaG>aaT		nuclear mitotic apparatus protein 1							122.0	112.0	116.0					11																	71725990		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725990C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2559G>T	11.37:g.71725990C>A	ENSP00000377298:p.Lys853Asn					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.K853N|RP11-849H4.4_ENST00000502284.1_RNA	p.K853N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2890	-			853						Missense_Mutation	SNP	ENST00000393695.3	37	c.2559G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984727	0.74474	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.13420	2.59;2.59	5.54	5.54	0.83059	.	0.368069	0.26715	N	0.022864	T	0.17619	0.0423	L	0.40543	1.245	0.32084	N	0.592739	B;B;P;P	0.41131	0.447;0.403;0.739;0.739	B;B;P;P	0.44561	0.286;0.283;0.453;0.453	T	0.03095	-1.1073	9	.	.	.	.	16.9839	0.86335	0.0:1.0:0.0:0.0	.	859;337;853;853	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	N	853;853;416	ENSP00000351851:K853N;ENSP00000377298:K853N	.	K	-	3	2	NUMA1	71403638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.558000	0.45879	2.611000	0.88343	0.655000	0.94253	AAG		0.582	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			11	53	1	0	1.58986e-06	1	1.65464e-06	11	53				
RPSAP52	204010	broad.mit.edu	37	12	66151935	66151935	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66151935G>A	ENST00000489520.2	-	0	1008					NR_026825.2				ribosomal protein SA pseudogene 52																		CCATTCAGTGGCCTGAGCAGT	0.483																																						ENST00000489520.2																			0																																																			0							g.chr12:66151935G>A			12q14.3	2010-09-24			ENSG00000241749	ENSG00000241749			35752	pseudogene	pseudogene						19123937	Standard	NR_026825		Approved		uc001sso.4		OTTHUMG00000157608		12.37:g.66151935G>A								NR_026825.2						0	1008	-									RNA	SNP	ENST00000489520.2	37																																																																																						0.483	RPSAP52-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000349256.2	NG_006174		5	5	0	0	0	1	0	5	5				
ZNF76	7629	broad.mit.edu	37	6	35261620	35261620	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35261620T>C	ENST00000373953.3	+	12	1688	c.1422T>C	c.(1420-1422)ccT>ccC	p.P474P	ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Silent_p.P448P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCCCCAGTCCTGATGCCGACC	0.632																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1420-1422)ccT>ccC		zinc finger protein 76							109.0	95.0	100.0					6																	35261620		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35261620T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1422T>C	6.37:g.35261620T>C						ZNF76_ENST00000440666.2_Silent_p.P448P|ZNF76_ENST00000339411.5_Intron	p.P474P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			12	1688	+			474					Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.1422T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	2.427	-0.331835	0.05314	.	.	ENSG00000065029	ENST00000498555	.	.	.	5.26	-1.28	0.09318	.	.	.	.	.	T	0.11665	0.0284	.	.	.	0.28171	N	0.928581	.	.	.	.	.	.	T	0.30966	-0.9960	4	.	.	.	.	5.1647	0.15079	0.0:0.342:0.1663:0.4918	.	.	.	.	P	7	.	.	L	+	2	0	ZNF76	35369598	0.085000	0.21516	0.012000	0.15200	0.259000	0.26198	-0.279000	0.08479	-0.352000	0.08237	0.528000	0.53228	CTG		0.632	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		14	22	0	0	0	1	0	14	22				
NEMF	9147	broad.mit.edu	37	14	50301159	50301159	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50301159G>A	ENST00000298310.5	-	7	1032	c.583C>T	c.(583-585)Cca>Tca	p.P195S	NEMF_ENST00000545773.1_Missense_Mutation_p.P153S|NEMF_ENST00000546046.1_Missense_Mutation_p.P195S|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000556925.1_5'Flank			O60524	NEMF_HUMAN	nuclear export mediator factor	195					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATGAGAGCTGGTCCATAGGCT	0.353																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(583-585)Cca>Tca		nuclear export mediator factor							81.0	78.0	79.0					14																	50301159		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50301159G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.583C>T	14.37:g.50301159G>A	ENSP00000298310:p.Pro195Ser					AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000545773.1_Missense_Mutation_p.P153S|NEMF_ENST00000546046.1_Missense_Mutation_p.P195S	p.P195S			O60524	NEMF_HUMAN			7	1032	-			195					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.583C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907394	0.33628	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.22	0.621	0.17643	Fibronectin-binding A, N-terminal (1);	0.157730	0.56097	N	0.000031	T	0.37100	0.0991	L	0.60957	1.885	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.14578	0.011;0.011;0.007;0.007	T	0.11108	-1.0601	10	0.23302	T	0.38	-1.5152	7.1907	0.25824	0.2568:0.4612:0.2821:0.0	.	195;195;153;195	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	S	195;153;195;153;153	ENSP00000298310:P195S;ENSP00000438309:P153S;ENSP00000441016:P195S;ENSP00000452540:P153S	ENSP00000298310:P195S	P	-	1	0	NEMF	49370909	1.000000	0.71417	0.849000	0.33467	0.964000	0.63967	2.776000	0.47709	0.280000	0.22209	0.567000	0.79289	CCA		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		9	33	0	0	0	1	0	9	33				
PRPF40B	25766	broad.mit.edu	37	12	50037897	50037897	+	Silent	SNP	G	G	A	rs370989934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50037897G>A	ENST00000380281.1	+	25	2602	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	PRPF40B_ENST00000548825.2_Silent_p.T867T|PRPF40B_ENST00000261897.1_Silent_p.T833T|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	846					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCTGGGACACGTCAGAAAGTG	0.597											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2497-2499)acG>acA		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		G	,,,	0,4406		0,0,2203	139.0	113.0	122.0		2538,2499,,	-4.8	0.5	12		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	846/872,833/859,,	50037897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037897G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2538G>A	12.37:g.50037897G>A			OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_ENST00000380281.1_Silent_p.T846T|PRPF40B_ENST00000548825.2_Silent_p.T867T|FMNL3_ENST00000335154.5_3'UTR	p.T833T			Q6NWY9	PR40B_HUMAN			25	3050	+			846					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.2499G>A																																																																																					0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		10	21	0	0	0	1	0	10	21				
SENP6	26054	broad.mit.edu	37	6	76344440	76344440	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76344440C>T	ENST00000447266.2	+	5	849	c.371C>T	c.(370-372)aCg>aTg	p.T124M	SENP6_ENST00000370014.3_Missense_Mutation_p.T124M|SENP6_ENST00000327284.8_Missense_Mutation_p.T124M|SENP6_ENST00000370010.2_Missense_Mutation_p.T124M	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	124					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACGCAAAATACGTCATTATGT	0.313																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(370-372)aCg>aTg		SUMO1/sentrin specific peptidase 6																																				SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344440C>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.371C>T	6.37:g.76344440C>T	ENSP00000402527:p.Thr124Met					SENP6_ENST00000370010.2_Missense_Mutation_p.T124M|SENP6_ENST00000447266.2_Missense_Mutation_p.T124M|SENP6_ENST00000327284.8_Missense_Mutation_p.T124M	p.T124M	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			5	990	+		all_hematologic(105;0.189)	124					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.371C>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	6.982	0.551294	0.13374	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.5	3.47	0.39725	.	0.978769	0.08408	N	0.950438	T	0.11110	0.0271	N	0.22421	0.69	0.26513	N	0.974568	B;B;B	0.20459	0.045;0.027;0.045	B;B;B	0.12837	0.008;0.004;0.008	T	0.21314	-1.0249	10	0.35671	T	0.21	-0.1592	4.316	0.10993	0.0:0.5446:0.0:0.4554	.	124;124;124	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	M	124;124;124;124;124;15;14	ENSP00000359027:T124M;ENSP00000359031:T124M;ENSP00000321820:T124M;ENSP00000402527:T124M;ENSP00000426480:T15M;ENSP00000391426:T14M	ENSP00000321820:T124M	T	+	2	0	SENP6	76401160	0.041000	0.20044	0.735000	0.30896	0.110000	0.19582	1.391000	0.34475	1.343000	0.45638	0.585000	0.79938	ACG		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		12	33	0	0	0	1	0	12	33				
ITGA5	3678	broad.mit.edu	37	12	54803281	54803281	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54803281G>T	ENST00000293379.4	-	3	711	c.450C>A	c.(448-450)ggC>ggA	p.G150G	ITGA5_ENST00000547744.1_5'Flank|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	150					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGATGGAGGAGCCATGGGCTC	0.642																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(448-450)ggC>ggA		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							59.0	53.0	55.0					12																	54803281		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54803281G>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.450C>A	12.37:g.54803281G>T						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.G150G	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			3	711	-			150					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.450C>A	CCDS8880.1																																																																																				0.642	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			5	9	1	0	0.014758	1	0.0148771	5	9				
EDC4	23644	broad.mit.edu	37	16	67913871	67913871	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67913871C>T	ENST00000358933.5	+	16	2179	c.1940C>T	c.(1939-1941)aCc>aTc	p.T647I	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	647	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCTCCTTGACCAGGTGAGGC	0.622																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1939-1941)aCc>aTc		enhancer of mRNA decapping 4							46.0	42.0	44.0					16																	67913871		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913871C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1940C>T	16.37:g.67913871C>T	ENSP00000351811:p.Thr647Ile						p.T647I	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2179	+		Ovarian(137;0.0563)	647			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1940C>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424032	0.25639	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	6.07	5.12	0.69794	.	0.777811	0.12928	N	0.427631	T	0.27629	0.0679	N	0.08118	0	0.26030	N	0.981755	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19128	-1.0315	9	0.42905	T	0.14	-7.348	15.2636	0.73643	0.0:0.9324:0.0:0.0676	.	579;647	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	I	647;579	.	ENSP00000351811:T647I	T	+	2	0	EDC4	66471372	0.982000	0.34865	0.995000	0.50966	0.347000	0.29111	2.085000	0.41634	1.584000	0.49913	-0.137000	0.14449	ACC		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	9	0	0	0	1	0	9	9				
GGNBP2	79893	broad.mit.edu	37	17	34913159	34913159	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34913159A>G	ENST00000304718.4	+	4	727	c.411A>G	c.(409-411)acA>acG	p.T137T		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGCTTTATACATTATTTTATG	0.388																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(409-411)acA>acG		gametogenetin binding protein 2							76.0	74.0	75.0					17																	34913159		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34913159A>G	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.411A>G	17.37:g.34913159A>G							p.T137T	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	727	+		Breast(25;0.00957)|Ovarian(249;0.17)	137					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.411A>G	CCDS11314.1																																																																																				0.388	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		10	36	0	0	0	1	0	10	36				
USH1C	10083	broad.mit.edu	37	11	17523051	17523051	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17523051A>G	ENST00000318024.4	-	17	1466	c.1358T>C	c.(1357-1359)gTc>gCc	p.V453A	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Missense_Mutation_p.V753A|USH1C_ENST00000527720.1_Missense_Mutation_p.V422A|USH1C_ENST00000527020.1_Missense_Mutation_p.V434A	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	453	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			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						TAGGAGCCGGACATCCTTCCC	0.602																																						ENST00000005226.7																			0				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						c.(2257-2259)gTc>gCc		Usher syndrome 1C (autosomal recessive, severe)							75.0	76.0	76.0					11																	17523051		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.chr11:17523051A>G	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.1358T>C	11.37:g.17523051A>G	ENSP00000317018:p.Val453Ala					USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.V434A|USH1C_ENST00000527720.1_Missense_Mutation_p.V422A|USH1C_ENST00000318024.4_Missense_Mutation_p.V453A	p.V753A	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			22	2257	-			453					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2258T>C	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045305	0.75846	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.63	5.63	0.86233	PDZ/DHR/GLGF (2);	0.148112	0.44902	D	0.000416	T	0.51601	0.1684	L	0.60455	1.87	0.35132	D	0.768008	D;P;B	0.59357	0.985;0.563;0.07	D;P;B	0.74023	0.982;0.758;0.373	T	0.63171	-0.6697	10	0.52906	T	0.07	.	14.8361	0.70183	1.0:0.0:0.0:0.0	.	434;453;753	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	A	453;422;434;753	ENSP00000317018:V453A;ENSP00000432944:V422A;ENSP00000436934:V434A;ENSP00000005226:V753A	ENSP00000005226:V753A	V	-	2	0	USH1C	17479627	1.000000	0.71417	0.936000	0.37596	0.987000	0.75469	7.196000	0.77805	2.149000	0.67028	0.528000	0.53228	GTC		0.602	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		15	15	0	0	0	1	0	15	15				
SLC7A2	6542	broad.mit.edu	37	8	17418039	17418039	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:17418039C>A	ENST00000494857.1	+	10	1719	c.1501C>A	c.(1501-1503)Cta>Ata	p.L501I	SLC7A2_ENST00000470360.1_Missense_Mutation_p.L540I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L541I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L501I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L540I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	501					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTAGGATTCCTAGGTAAGTC	0.507																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1618-1620)Cta>Ata		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						132.0	115.0	121.0					8																	17418039		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17418039C>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1501C>A	8.37:g.17418039C>A	ENSP00000419140:p.Leu501Ile					SLC7A2_ENST00000004531.10_Missense_Mutation_p.L541I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L501I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L540I|SLC7A2_ENST00000494857.1_Missense_Mutation_p.L501I	p.L540I			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1735	+			501					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1618C>A	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796938	0.31777	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89196	-2.32;-2.32;-2.48;-2.33;-2.48	5.27	5.27	0.74061	.	0.331055	0.33235	N	0.005124	D	0.85566	0.5726	L	0.54323	1.7	0.46542	D	0.999096	B;B;B	0.33755	0.424;0.016;0.017	B;B;B	0.34093	0.175;0.051;0.02	T	0.83304	-0.0026	10	0.33940	T	0.23	.	12.2107	0.54377	0.0:0.8761:0.0:0.1239	.	541;540;501	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	501;501;540;541;540	ENSP00000419140:L501I;ENSP00000430464:L501I;ENSP00000419873:L540I;ENSP00000004531:L541I;ENSP00000381164:L540I	ENSP00000004531:L541I	L	+	1	2	SLC7A2	17462331	0.989000	0.36119	0.998000	0.56505	0.666000	0.39218	1.870000	0.39529	2.629000	0.89072	0.655000	0.94253	CTA		0.507	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		9	54	1	0	1.12685e-05	1	1.16601e-05	9	54				
GLTSCR1	29998	broad.mit.edu	37	19	48183474	48183474	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48183474G>A	ENST00000396720.3	+	6	1241	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	349										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCACACCCACGCCCATCCAGC	0.746																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(1045-1047)acG>acA		glioma tumor suppressor candidate region gene 1							3.0	3.0	3.0					19																	48183474		1596	3403	4999	SO:0001819	synonymous_variant	29998						protein binding	g.chr19:48183474G>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1047G>A	19.37:g.48183474G>A						CTD-2571L23.8_ENST00000599924.1_lincRNA	p.T349T	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	6	1241	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	349					A8MW01	Silent	SNP	ENST00000396720.3	37	c.1047G>A	CCDS46134.1																																																																																				0.746	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		7	4	0	0	0	1	0	7	4				
RALGAPB	57148	broad.mit.edu	37	20	37168467	37168467	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37168467G>A	ENST00000262879.6	+	17	2712	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V806M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V588M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V810M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	810					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATCAGTTCTGTGTGCACCTA	0.468																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(2428-2430)Gtg>Atg		Ral GTPase activating protein, beta subunit (non-catalytic)							153.0	125.0	135.0					20																	37168467		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37168467G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2428G>A	20.37:g.37168467G>A	ENSP00000262879:p.Val810Met					RALGAPB_ENST00000397038.1_Missense_Mutation_p.V588M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V810M|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V806M	p.V810M			Q86X10	RLGPB_HUMAN			17	2712	+			810					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2428G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373757	0.82573	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.62	4.66	0.58398	.	0.182670	0.48286	D	0.000184	T	0.55178	0.1904	L	0.40543	1.245	0.58432	D	0.999999	P;P;P;P	0.35908	0.527;0.527;0.527;0.527	B;B;B;B	0.42138	0.377;0.377;0.377;0.377	T	0.59563	-0.7431	9	0.59425	D	0.04	.	14.8007	0.69913	0.0702:0.0:0.9298:0.0	.	638;810;806;810	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	M	810;806;810;588;810;638	.	ENSP00000262879:V810M	V	+	1	0	RALGAPB	36601881	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	5.998000	0.70653	2.648000	0.89879	0.591000	0.81541	GTG		0.468	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	39	0	0	0	1	0	10	39				
ASXL2	55252	broad.mit.edu	37	2	25966166	25966166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:25966166G>A	ENST00000435504.4	-	13	3333	c.3040C>T	c.(3040-3042)Cca>Tca	p.P1014S	ASXL2_ENST00000336112.4_Missense_Mutation_p.P986S|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1014					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGTAGCTGGATGGGACTGT	0.527																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3040-3042)Cca>Tca		additional sex combs like 2 (Drosophila)							60.0	63.0	62.0					2																	25966166		1962	4166	6128	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966166G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3040C>T	2.37:g.25966166G>A	ENSP00000391447:p.Pro1014Ser					ASXL2_ENST00000336112.4_Missense_Mutation_p.P986S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron	p.P1014S			Q76L83	ASXL2_HUMAN			13	3333	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1014					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3040C>T		.	.	.	.	.	.	.	.	.	.	G	3.315	-0.139905	0.06669	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.20738	2.05;2.05	6.07	5.18	0.71444	.	0.492413	0.22881	N	0.054519	T	0.26122	0.0637	L	0.56769	1.78	0.09310	N	0.999999	D	0.57899	0.981	P	0.49012	0.598	T	0.33343	-0.9872	10	0.87932	D	0	-1.8346	5.3627	0.16098	0.0753:0.1447:0.6297:0.1502	.	1014	Q76L83	ASXL2_HUMAN	S	1014;986	ENSP00000391447:P1014S;ENSP00000337250:P986S	ENSP00000337250:P986S	P	-	1	0	ASXL2	25819670	0.001000	0.12720	0.120000	0.21714	0.075000	0.17131	1.115000	0.31209	1.537000	0.49254	0.655000	0.94253	CCA		0.527	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	11	0	0	0	1	0	10	11				
GNB3	2784	broad.mit.edu	37	12	6954960	6954960	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6954960C>T	ENST00000229264.3	+	10	1315	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R303C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	304					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GAAGTCTGAGCGTGTGGGTAA	0.617																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(910-912)Cgt>Tgt		guanine nucleotide binding protein (G protein), beta polypeptide 3							110.0	106.0	108.0					12																	6954960		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954960C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.910C>T	12.37:g.6954960C>T	ENSP00000229264:p.Arg304Cys					GNB3_ENST00000435982.2_Missense_Mutation_p.R303C|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	p.R304C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1315	+			304					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.910C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272354	0.23221	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.61274	0.49;0.49;0.12	4.81	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	N	0.21448	0.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.932;0.982	T	0.57159	-0.7859	10	0.27785	T	0.31	-21.3324	13.1607	0.59542	0.0:0.9229:0.0:0.0771	.	303;304	E9PCP0;P16520	.;GBB3_HUMAN	C	304;303;263	ENSP00000229264:R304C;ENSP00000414734:R303C;ENSP00000445967:R263C	ENSP00000229264:R304C	R	+	1	0	GNB3	6825221	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	5.844000	0.69430	1.245000	0.43885	-0.140000	0.14226	CGT		0.617	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		35	61	0	0	0	1	0	35	61				
FFAR3	2865	broad.mit.edu	37	19	35850518	35850518	+	Silent	SNP	C	C	T	rs147416906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35850518C>T	ENST00000327809.4	+	2	927	c.726C>T	c.(724-726)aaC>aaT	p.N242N	FFAR3_ENST00000594310.1_Silent_p.N242N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	242					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.N242N(1)|p.N242K(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCCCTACAACGTGTCCCATG	0.632																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.N242N(1)|p.N242K(1)	large_intestine(1)|lung(1)	endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(724-726)aaC>aaT		free fatty acid receptor 3		T		0,4402		0,0,2201	172.0	130.0	144.0		726	-8.3	0.0	19	dbSNP_134	144	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	FFAR3	NM_005304.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		242/347	35850518	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850518C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.726C>T	19.37:g.35850518C>T						FFAR3_ENST00000594310.1_Silent_p.N242N	p.N242N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	927	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		242					B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.726C>T	CCDS12459.1																																																																																				0.632	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		34	140	0	0	0	1	0	34	140				
ZNF586	54807	broad.mit.edu	37	19	58301720	58301720	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58301720C>A	ENST00000598183.1	+	2	291	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	ZNF586_ENST00000598885.1_Missense_Mutation_p.L39M|ZNF586_ENST00000599802.1_Intron			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	39	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGGGATGCCTGTACCATGA	0.478																																						ENST00000598183.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(115-117)Ctg>Atg		zinc finger protein 586							415.0	362.0	378.0					19																	58301720		876	1991	2867	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58301720C>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000598183.1:c.115C>A	19.37:g.58301720C>A	ENSP00000471663:p.Leu39Met					ZNF586_ENST00000598885.1_Missense_Mutation_p.L39M|ZNF586_ENST00000599802.1_Intron	p.L39M			Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	291	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	39			KRAB.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000598183.1	37	c.115C>A		.	.	.	.	.	.	.	.	.	.	C	11.22	1.575356	0.28092	.	.	ENSG00000083828	ENST00000430084;ENST00000308137	.	.	.	3.1	0.102	0.14522	.	.	.	.	.	T	0.38532	0.1044	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48198	-0.9056	4	0.87932	D	0	.	3.6216	0.08097	0.0:0.5742:0.2311:0.1947	.	.	.	.	M	39	.	ENSP00000308355:L39M	L	+	1	2	ZNF586	62993532	0.026000	0.19158	0.001000	0.08648	0.339000	0.28857	-0.200000	0.09478	-0.020000	0.14032	0.306000	0.20318	CTG		0.478	ZNF586-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466824.1	NM_017652		63	84	1	0	1.74971e-23	1	1.95019e-23	63	84				
SLC22A5	6584	broad.mit.edu	37	5	131714145	131714145	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131714145T>C	ENST00000245407.3	+	2	690	c.469T>C	c.(469-471)Tcc>Ccc	p.S157P	SLC22A5_ENST00000435065.2_Missense_Mutation_p.S181P	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	157					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCTGTTGGGCTCCTTCATTTC	0.557																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(469-471)Tcc>Ccc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						248.0	239.0	242.0					5																	131714145		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714145T>C	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.469T>C	5.37:g.131714145T>C	ENSP00000245407:p.Ser157Pro					SLC22A5_ENST00000435065.2_Missense_Mutation_p.S181P	p.S157P	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	690	+		all_cancers(142;0.0751)|Breast(839;0.198)	157					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.469T>C	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597253	0.66332	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.79454	-1.27;-1.27;-1.27	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	M	0.92367	3.3	0.47949	D	0.999552	D;D	0.89917	0.986;1.0	P;D	0.81914	0.887;0.995	D	0.92886	0.6327	10	0.87932	D	0	.	15.9452	0.79787	0.0:0.0:0.0:1.0	.	181;157	A2Q0V1;O76082	.;S22A5_HUMAN	P	157;181;80	ENSP00000245407:S157P;ENSP00000402760:S181P;ENSP00000388838:S80P	ENSP00000245407:S157P	S	+	1	0	SLC22A5	131742044	0.938000	0.31826	1.000000	0.80357	0.676000	0.39594	1.639000	0.37176	2.223000	0.72356	0.459000	0.35465	TCC		0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		61	96	0	0	0	1	0	61	96				
NUP98	4928	broad.mit.edu	37	11	3704646	3704646	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3704646G>A	ENST00000324932.7	-	30	5122	c.4702C>T	c.(4702-4704)Ctg>Ttg	p.L1568L	NUP98_ENST00000359171.4_Silent_p.L1494L|NUP98_ENST00000355260.3_Silent_p.L1494L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1585					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGGTAAGCAGCTCTCGAACA	0.527			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4702-4704)Ctg>Ttg		nucleoporin 98kDa							82.0	81.0	81.0					11																	3704646		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704646G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4702C>T	11.37:g.3704646G>A						NUP98_ENST00000359171.4_Silent_p.L1494L|NUP98_ENST00000355260.3_Silent_p.L1494L	p.L1568L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5122	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1585					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.4702C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079520	0.20309	.	.	ENSG00000110713	ENST00000429801	.	.	.	6.02	4.15	0.48705	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53865	-0.8378	4	.	.	.	-2.2169	7.728	0.28771	0.14:0.135:0.725:0.0	.	.	.	.	V	520	.	.	A	-	2	0	NUP98	3661222	0.733000	0.28132	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.886000	0.36113	0.650000	0.86243	GCT		0.527	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	30	0	0	0	1	0	11	30				
GPR179	440435	broad.mit.edu	37	17	36486906	36486906	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36486906T>C	ENST00000342292.4	-	11	2566	c.2546A>G	c.(2545-2547)aAg>aGg	p.K849R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	849					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCAAGGCCTTTTCCCTGGA	0.657																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2545-2547)aAg>aGg		G protein-coupled receptor 179							19.0	20.0	20.0					17																	36486906		1992	4155	6147	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486906T>C		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2546A>G	17.37:g.36486906T>C	ENSP00000345060:p.Lys849Arg						p.K849R	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2566	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	849						Missense_Mutation	SNP	ENST00000342292.4	37	c.2546A>G	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696918	0.68386	.	.	ENSG00000188888	ENST00000342292	T	0.61040	0.14	5.3	5.3	0.74995	.	0.145914	0.44483	D	0.000452	T	0.37919	0.1021	N	0.17082	0.46	0.24834	N	0.992504	P	0.38597	0.639	B	0.34824	0.19	T	0.38714	-0.9648	10	0.54805	T	0.06	-25.7037	8.9196	0.35604	0.0:0.0838:0.0:0.9162	.	849	Q6PRD1	GP179_HUMAN	R	849	ENSP00000345060:K849R	ENSP00000345060:K849R	K	-	2	0	GPR179	33740432	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.937000	0.28951	2.220000	0.72140	0.533000	0.62120	AAG		0.657	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			15	13	0	0	0	1	0	15	13				
CARM1	10498	broad.mit.edu	37	19	11031734	11031734	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11031734A>G	ENST00000327064.4	+	14	1736	c.1546A>G	c.(1546-1548)Acc>Gcc	p.T516A	CARM1_ENST00000344150.4_Missense_Mutation_p.T516A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	516	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGGGATGCCGACCGCCTATGA	0.662																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(1546-1548)Acc>Gcc		coactivator-associated arginine methyltransferase 1							49.0	48.0	48.0					19																	11031734		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11031734A>G	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1546A>G	19.37:g.11031734A>G	ENSP00000325690:p.Thr516Ala					CARM1_ENST00000344150.4_Missense_Mutation_p.T516A	p.T516A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			14	1736	+			516			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1546A>G	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	A	9.236	1.036964	0.19669	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.26373	1.74;1.8	5.02	2.94	0.34122	.	0.205138	0.41194	D	0.000927	T	0.19208	0.0461	L	0.44542	1.39	0.35279	D	0.781181	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.16364	-1.0405	10	0.23891	T	0.37	-4.0225	8.5016	0.33161	0.848:0.0:0.152:0.0	.	516;516	Q86X55-1;Q86X55	.;CARM1_HUMAN	A	516	ENSP00000325690:T516A;ENSP00000340934:T516A	ENSP00000325690:T516A	T	+	1	0	CARM1	10892734	0.359000	0.24955	0.684000	0.30055	0.445000	0.32107	1.364000	0.34171	0.277000	0.22141	0.519000	0.50382	ACC		0.662	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		9	25	0	0	0	1	0	9	25				
SVOPL	136306	broad.mit.edu	37	7	138312093	138312093	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138312093A>G	ENST00000419765.3	-	11	1215		c.e11+1		SVOPL_ENST00000436657.1_Splice_Site|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000463557.1_Splice_Site|SVOPL_ENST00000421622.1_Splice_Site|SVOPL_ENST00000288513.5_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACAGAAAATACCTTGAAGTG	0.433																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e8+1		SVOP-like							84.0	77.0	79.0					7																	138312093		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312093A>G	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1181+1T>C	7.37:g.138312093A>G						SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Splice_Site|SVOPL_ENST00000419765.3_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site				Q8N434	SVOPL_HUMAN			8	1030	-									Splice_Site	SNP	ENST00000419765.3	37		CCDS47721.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626669	0.66901	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8094	0.78547	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SVOPL	137962633	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	6.125000	0.71627	2.141000	0.66446	0.533000	0.62120	.		0.433	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	17	25	0	0	0	1	0	17	25				
HSPG2	3339	broad.mit.edu	37	1	22174233	22174233	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22174233C>A	ENST00000374695.3	-	61	8053	c.7974G>T	c.(7972-7974)caG>caT	p.Q2658H	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2658	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGATGATAGCCTGGGGCTGCC	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7972-7974)caG>caT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						47.0	45.0	45.0					1																	22174233		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22174233C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7974G>T	1.37:g.22174233C>A	ENSP00000363827:p.Gln2658His					HSPG2_ENST00000430507.1_3'UTR	p.Q2658H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	61	8053	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2658			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7974G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721598	0.48728	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.68765	-0.35;-0.35	5.13	4.01	0.46588	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34580	N	0.003848	T	0.51975	0.1706	N	0.20766	0.605	0.37361	D	0.91122	B;B	0.17038	0.018;0.02	B;B	0.28305	0.055;0.088	T	0.55121	-0.8190	10	0.37606	T	0.19	.	11.7988	0.52114	0.0:0.8987:0.0:0.1013	.	598;2658	Q59EG0;P98160	.;PGBM_HUMAN	H	2658;73	ENSP00000363827:Q2658H;ENSP00000396310:Q73H	ENSP00000363827:Q2658H	Q	-	3	2	HSPG2	22046820	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	-0.374000	0.07484	2.389000	0.81357	0.655000	0.94253	CAG		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	5	1	0	3.59834e-05	1	3.7043e-05	6	5				
SPRY3	10251	broad.mit.edu	37	X	155003602	155003602	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:155003602T>C	ENST00000302805.2	+	2	500	c.69T>C	c.(67-69)gcT>gcC	p.A23A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	23					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTACTCATGCTAGCAATGACT	0.483																																						ENST00000302805.2																			0											c.(67-69)gcT>gcC		sprouty homolog 3 (Drosophila)							228.0	221.0	224.0					X																	155003602		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003602T>C	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.69T>C	X.37:g.155003602T>C							p.A23A	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	500	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		23					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.69T>C	CCDS14769.4																																																																																				0.483	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		58	62	0	0	0	1	0	58	62				
MPHOSPH9	10198	broad.mit.edu	37	12	123706393	123706393	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123706393G>A	ENST00000606320.1	-	5	604	c.398C>T	c.(397-399)gCt>gTt	p.A133V	MPHOSPH9_ENST00000392425.3_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.A103V|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	133						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AGCTAAGGAAGCACTACTAGT	0.313																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(397-399)gCt>gTt		M-phase phosphoprotein 9																																				SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706393G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.398C>T	12.37:g.123706393G>A	ENSP00000475489:p.Ala133Val					MPHOSPH9_ENST00000392425.3_5'UTR|MPHOSPH9_ENST00000302349.5_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.A103V|MPHOSPH9_ENST00000539639.1_5'UTR	p.A133V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	604	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.398C>T		.	.	.	.	.	.	.	.	.	.	G	12.96	2.095186	0.36952	.	.	ENSG00000257076	ENST00000540674	T	0.03689	3.84	5.94	1.86	0.25419	.	.	.	.	.	T	0.05960	0.0155	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.45891	-0.9230	6	0.35671	T	0.21	.	6.9483	0.24530	0.2074:0.3271:0.4654:0.0	.	.	.	.	V	133	ENSP00000444418:A133V	ENSP00000444418:A133V	A	-	2	0	RP11-546D6.2	122272346	0.961000	0.32948	0.825000	0.32803	0.029000	0.11900	1.130000	0.31393	0.399000	0.25367	0.557000	0.71058	GCT		0.313	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			11	17	0	0	0	1	0	11	17				
CPZ	8532	broad.mit.edu	37	4	8605825	8605825	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:8605825G>A	ENST00000360986.4	+	4	793	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.V70M|CPZ_ENST00000315782.6_Missense_Mutation_p.V196M	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	207					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCGCCCACGTGGCCAGGAC	0.692																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(208-210)Gtg>Atg		carboxypeptidase Z							18.0	16.0	17.0					4																	8605825		2184	4278	6462	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605825G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.619G>A	4.37:g.8605825G>A	ENSP00000354255:p.Val207Met					CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.V207M|CPZ_ENST00000315782.6_Missense_Mutation_p.V196M	p.V70M	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			4	1008	+			207			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.208G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260835	0.59431	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11385	2.78;2.78;2.78	3.86	-0.0665	0.13764	Peptidase M14, carboxypeptidase A (1);	0.269957	0.33572	N	0.004766	T	0.13713	0.0332	L	0.31752	0.955	0.80722	D	1	D;D	0.58268	0.982;0.974	P;P	0.59115	0.769;0.852	T	0.02868	-1.1100	10	0.87932	D	0	-19.8623	7.2767	0.26288	0.7291:0.0:0.2709:0.0	.	196;207	Q66K79-2;Q66K79	.;CBPZ_HUMAN	M	207;70;196	ENSP00000354255:V207M;ENSP00000371920:V70M;ENSP00000315074:V196M	ENSP00000315074:V196M	V	+	1	0	CPZ	8656725	0.807000	0.29009	0.835000	0.33067	0.899000	0.52679	0.579000	0.23788	0.005000	0.14708	0.555000	0.69702	GTG		0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		4	6	0	0	0	1	0	4	6				
CCM2	83605	broad.mit.edu	37	7	45077977	45077977	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45077977C>T	ENST00000258781.6	+	2	305	c.156C>T	c.(154-156)cgC>cgT	p.R52R	CCM2_ENST00000544363.1_Silent_p.R52R|CCM2_ENST00000381112.3_Silent_p.R73R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000475551.1_Silent_p.R46R|CCM2_ENST00000474617.1_Silent_p.R46R	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	52					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCTGAGCGCGTCGAGCCAG	0.517																																						ENST00000475551.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(136-138)cgC>cgT		cerebral cavernous malformation 2							123.0	113.0	116.0					7																	45077977		2203	4300	6503	SO:0001819	synonymous_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45077977C>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.156C>T	7.37:g.45077977C>T						CCM2_ENST00000258781.6_Silent_p.R52R|CCM2_ENST00000544363.1_Silent_p.R52R|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000474617.1_Silent_p.R46R|CCM2_ENST00000381112.3_Silent_p.R73R|CCM2_ENST00000461377.1_3'UTR	p.R46R			Q9BSQ5	CCM2_HUMAN			2	898	+			52					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.138C>T	CCDS5500.1																																																																																				0.517	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		18	23	0	0	0	1	0	18	23				
TANC2	26115	broad.mit.edu	37	17	61466675	61466675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61466675C>T	ENST00000424789.2	+	15	2603	c.2599C>T	c.(2599-2601)Cga>Tga	p.R867*	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.R867*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	867					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTAGGTCAGCCGACTGCTGAT	0.358																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2599-2601)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							109.0	102.0	104.0					17																	61466675		1832	4089	5921	SO:0001587	stop_gained	26115						binding	g.chr17:61466675C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2599C>T	17.37:g.61466675C>T	ENSP00000387593:p.Arg867*					TANC2_ENST00000389520.4_Nonsense_Mutation_p.R867*|AC015923.1_ENST00000431604.1_RNA	p.R867*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			15	2603	+			867					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	ENST00000424789.2	37	c.2599C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	40	8.365554	0.98779	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8492	0.70284	0.1492:0.8508:0.0:0.0	.	.	.	.	X	867	.	ENSP00000374171:R867X	R	+	1	2	TANC2	58820407	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.937000	0.56575	1.171000	0.42768	0.561000	0.74099	CGA		0.358	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			6	21	0	0	0	1	0	6	21				
PCNT	5116	broad.mit.edu	37	21	47855835	47855835	+	Missense_Mutation	SNP	C	C	T	rs559208618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47855835C>T	ENST00000359568.5	+	39	8877	c.8770C>T	c.(8770-8772)Cgt>Tgt	p.R2924C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2924					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAACTGCAGCGTCAGCGTGA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0					ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8770-8772)Cgt>Tgt		pericentrin							71.0	75.0	74.0					21																	47855835		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855835C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8770C>T	21.37:g.47855835C>T	ENSP00000352572:p.Arg2924Cys					PCNT_ENST00000480896.1_3'UTR	p.R2924C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			39	8877	+	Breast(49;0.112)		2924					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8770C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223298	0.39300	.	.	ENSG00000160299	ENST00000359568	T	0.01745	4.66	5.58	4.7	0.59300	.	.	.	.	.	T	0.01730	0.0055	L	0.29908	0.895	0.34542	D	0.710404	P;P	0.51057	0.941;0.902	B;B	0.37239	0.244;0.124	T	0.56890	-0.7904	9	0.87932	D	0	.	11.4299	0.50034	0.0:0.9176:0.0:0.0824	.	2727;2924	O95613-2;O95613	.;PCNT_HUMAN	C	2924	ENSP00000352572:R2924C	ENSP00000352572:R2924C	R	+	1	0	PCNT	46680263	0.985000	0.35326	0.923000	0.36655	0.540000	0.34992	1.255000	0.32909	1.353000	0.45828	0.467000	0.42956	CGT		0.532	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		44	25	0	0	0	1	0	44	25				
PLPPR2	64748	broad.mit.edu	37	19	11471980	11471980	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11471980C>T	ENST00000251473.5	+	6	855	c.479C>T	c.(478-480)tCc>tTc	p.S160F	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S135F	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACTTCCTGTCCGTGTGCCGC	0.667																																						ENST00000251473.5																			0											c.(478-480)tCc>tTc									74.0	56.0	62.0					19																	11471980		2203	4299	6502	SO:0001583	missense	0							g.chr19:11471980C>T																												ENST00000251473.5:c.479C>T	19.37:g.11471980C>T	ENSP00000251473:p.Ser160Phe					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S135F	p.S160F	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	855	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.479C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	33	5.215742	0.95104	.	.	ENSG00000105520	ENST00000251473	T	0.40476	1.03	5.18	5.18	0.71444	.	0.057559	0.64402	D	0.000001	T	0.62282	0.2415	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.69078	0.997;0.987	D;D	0.69479	0.964;0.934	T	0.65709	-0.6102	10	0.87932	D	0	-44.4706	17.485	0.87684	0.0:1.0:0.0:0.0	.	135;160	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	F	160	ENSP00000251473:S160F	ENSP00000251473:S160F	S	+	2	0	AC024575.1	11332980	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.123000	0.77176	2.422000	0.82143	0.450000	0.29827	TCC		0.667	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			13	28	0	0	0	1	0	13	28				
CHRNA2	1135	broad.mit.edu	37	8	27321197	27321197	+	Missense_Mutation	SNP	C	C	T	rs201370407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27321197C>T	ENST00000520933.2	-	5	916	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V240I|CHRNA2_ENST00000407991.1_Missense_Mutation_p.V255I			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	255					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GCGTAGGTGACGTCGGGGTAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.0					ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(763-765)Gtc>Atc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						214.0	180.0	191.0					8																	27321197		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27321197C>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.763G>A	8.37:g.27321197C>T	ENSP00000429616:p.Val255Ile					CHRNA2_ENST00000240132.2_Missense_Mutation_p.V240I|CHRNA2_ENST00000520933.2_Missense_Mutation_p.V255I	p.V255I	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1371	-		Ovarian(32;2.61e-05)	255					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.763G>A	CCDS6059.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.464	-0.887536	0.02511	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79352	-1.26;-1.26;-1.26	4.97	4.02	0.46733	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051973	0.85682	D	0.000000	T	0.40595	0.1123	N	0.00966	-1.09	0.40728	D	0.982727	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.52472	-0.8571	10	0.02654	T	1	.	5.904	0.18982	0.0:0.7961:0.0:0.2039	.	240;255	B4DK19;Q15822	.;ACHA2_HUMAN	I	255;255;240	ENSP00000385026:V255I;ENSP00000429616:V255I;ENSP00000240132:V240I	ENSP00000240132:V240I	V	-	1	0	CHRNA2	27377114	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	6.033000	0.70925	2.590000	0.87494	0.561000	0.74099	GTC		0.597	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			17	29	0	0	0	1	0	17	29				
AP1M1	8907	broad.mit.edu	37	19	16345076	16345076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16345076C>T	ENST00000291439.3	+	11	1689	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	AP1M1_ENST00000541844.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000590756.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.Q361*|AP1M1_ENST00000444449.2_Nonsense_Mutation_p.Q426*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	414	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TTATATCACGCAGAATGGAGG	0.637																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(1240-1242)Cag>Tag		adaptor-related protein complex 1, mu 1 subunit							69.0	58.0	62.0					19																	16345076		2203	4300	6503	SO:0001587	stop_gained	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16345076C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1240C>T	19.37:g.16345076C>T	ENSP00000291439:p.Gln414*					AP1M1_ENST00000590756.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000444449.2_Nonsense_Mutation_p.Q426*|AP1M1_ENST00000541844.1_Nonsense_Mutation_p.Q342*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.Q361*	p.Q414*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			11	1689	+			414			MHD.		Q4TTY5	Nonsense_Mutation	SNP	ENST00000291439.3	37	c.1240C>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350730	0.82132	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	.	.	.	3.58	3.58	0.41010	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.47341	D	0.999393	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-40.8441	14.7336	0.69399	0.0:1.0:0.0:0.0	.	.	.	.	X	426;414;342;361	.	ENSP00000291439:Q414X	Q	+	1	0	AP1M1	16206076	1.000000	0.71417	0.938000	0.37757	0.427000	0.31564	7.418000	0.80167	2.017000	0.59298	0.561000	0.74099	CAG		0.637	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		11	7	0	0	0	1	0	11	7				
LYAR	55646	broad.mit.edu	37	4	4285407	4285407	+	Silent	SNP	A	A	G	rs572890068		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:4285407A>G	ENST00000343470.4	-	3	303	c.63T>C	c.(61-63)caT>caC	p.H21H	LYAR_ENST00000452476.1_Silent_p.H21H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	21				H -> R (in Ref. 3; CAG38579). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAACAGACACATGCTTTTCCA	0.363													A|||	1	0.000199681	0.0	0.0	5008	,	,		19417	0.001		0.0	False		,,,				2504	0.0					ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(61-63)caT>caC		Ly1 antibody reactive							112.0	100.0	104.0					4																	4285407		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4285407A>G	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.63T>C	4.37:g.4285407A>G						LYAR_ENST00000452476.1_Silent_p.H21H	p.H21H	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	303	-			21	H -> R (in Ref. 3; CAG38579).				D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.63T>C	CCDS3374.1																																																																																				0.363	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		15	20	0	0	0	1	0	15	20				
ZBP1	81030	broad.mit.edu	37	20	56185392	56185392	+	Silent	SNP	C	C	T	rs374383138		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:56185392C>T	ENST00000371173.3	-	7	1083	c.906G>A	c.(904-906)tcG>tcA	p.S302S	ZBP1_ENST00000340462.4_Silent_p.S279S|ZBP1_ENST00000395822.3_Silent_p.S227S|ZBP1_ENST00000343535.4_Silent_p.S302S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	302					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.S302S(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTGCTTCAAACGAAGCTTCTG	0.607																																						ENST00000340462.4																			1	Substitution - coding silent(1)	p.S302S(1)	large_intestine(1)	large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(835-837)tcG>tcA		Z-DNA binding protein 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	127.0	140.0	135.0		903,681,906	-8.0	0.0	20		135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	301/429,227/355,302/430	56185392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56185392C>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.906G>A	20.37:g.56185392C>T						ZBP1_ENST00000395822.3_Silent_p.S227S|ZBP1_ENST00000371173.3_Silent_p.S302S|ZBP1_ENST00000343535.4_Silent_p.S302S	p.S279S			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		6	1117	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		302					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.837G>A	CCDS13461.1																																																																																				0.607	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		9	141	0	0	0	1	0	9	141				
CATSPERD	257062	broad.mit.edu	37	19	5744496	5744496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5744496C>T	ENST00000381624.3	+	8	693	c.632C>T	c.(631-633)gCg>gTg	p.A211V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	211					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCACAGGTTGCGATGCTTGTA	0.408																																						ENST00000381624.3																			0											c.(631-633)gCg>gTg		catsper channel auxiliary subunit delta							185.0	162.0	169.0					19																	5744496		1840	4100	5940	SO:0001583	missense	257062					integral to membrane		g.chr19:5744496C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.632C>T	19.37:g.5744496C>T	ENSP00000371037:p.Ala211Val					CATSPERD_ENST00000381614.2_5'UTR	p.A211V	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			8	693	+			211					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.632C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	9.609	1.130804	0.21041	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22336	1.96	2.61	0.377	0.16198	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.19775	N	0.999958	P	0.43607	0.812	B	0.37943	0.261	T	0.20042	-1.0287	9	0.72032	D	0.01	.	8.481	0.33043	0.0:0.4846:0.5154:0.0	.	211	Q86XM0	TM146_HUMAN	V	137;211	ENSP00000371037:A211V	ENSP00000371037:A211V	A	+	2	0	TMEM146	5695496	0.446000	0.25665	0.011000	0.14972	0.008000	0.06430	0.737000	0.26144	0.183000	0.20059	-0.702000	0.03669	GCG		0.408	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		31	53	0	0	0	1	0	31	53				
GRK6	2870	broad.mit.edu	37	5	176857946	176857946	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176857946C>T	ENST00000355472.5	+	2	294	c.126C>T	c.(124-126)tgC>tgT	p.C42C	GRK6_ENST00000355958.5_Silent_p.C42C|GRK6_ENST00000528793.1_Silent_p.C42C|GRK6_ENST00000393576.3_Silent_p.C42C|GRK6_ENST00000507633.1_Silent_p.C42C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	42	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCCAGTGCGAAGAGCTGC	0.642																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(124-126)tgC>tgT		G protein-coupled receptor kinase 6							50.0	44.0	46.0					5																	176857946		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176857946C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.126C>T	5.37:g.176857946C>T						GRK6_ENST00000355958.5_Silent_p.C42C|GRK6_ENST00000528793.1_Silent_p.C42C|GRK6_ENST00000393576.3_Silent_p.C42C|GRK6_ENST00000507633.1_Silent_p.C42C	p.C42C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	294	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	42			N-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.126C>T	CCDS34303.1																																																																																				0.642	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		4	10	0	0	0	1	0	4	10				
TBC1D9B	23061	broad.mit.edu	37	5	179297286	179297286	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179297286C>T	ENST00000356834.3	-	16	2731	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	TBC1D9B_ENST00000355235.3_Silent_p.L898L|TBC1D9B_ENST00000519746.1_Silent_p.L74L|TBC1D9B_ENST00000444477.2_Silent_p.L56L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	898	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGTTGATCAGCGAGTCCT	0.602																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2692-2694)ctG>ctA		TBC1 domain family, member 9B (with GRAM domain)							114.0	119.0	117.0					5																	179297286		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297286C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2694G>A	5.37:g.179297286C>T						TBC1D9B_ENST00000444477.2_Silent_p.L56L|TBC1D9B_ENST00000355235.3_Silent_p.L898L|TBC1D9B_ENST00000519746.1_Silent_p.L74L	p.L898L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2731	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	898			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2694G>A	CCDS43408.1																																																																																				0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		43	52	0	0	0	1	0	43	52				
TTN	7273	broad.mit.edu	37	2	179422223	179422223	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179422223C>T	ENST00000591111.1	-	279	83067	c.82843G>A	c.(82843-82845)Gtg>Atg	p.V27615M	TTN_ENST00000342992.6_Missense_Mutation_p.V26688M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20316M|TTN_ENST00000460472.2_Missense_Mutation_p.V20191M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29256M|TTN_ENST00000342175.6_Missense_Mutation_p.V20383M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27615	Fibronectin type-III 101. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAGCCCACAGTGATGCTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87766-87768)Gtg>Atg		titin							103.0	95.0	97.0					2																	179422223		2013	4173	6186	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422223C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82843G>A	2.37:g.179422223C>T	ENSP00000465570:p.Val27615Met					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20383M|TTN_ENST00000591111.1_Missense_Mutation_p.V27615M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V20191M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26688M|TTN_ENST00000359218.5_Missense_Mutation_p.V20316M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.V29256M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		329	87990	-			27615			Fibronectin type-III 113.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87766G>A		.	.	.	.	.	.	.	.	.	.	C	16.54	3.152602	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79317	0.4425	M	0.83384	2.64	0.53688	D	0.999976	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.72338	0.959;0.959;0.959;0.977	T	0.81420	-0.0941	9	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	20191;20316;20383;27615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	26688;20191;20383;20316;20188	ENSP00000343764:V26688M;ENSP00000434586:V20191M;ENSP00000340554:V20383M;ENSP00000352154:V20316M	ENSP00000340554:V20383M	V	-	1	0	TTN	179130469	0.995000	0.38212	0.980000	0.43619	0.976000	0.68499	3.296000	0.51802	2.776000	0.95493	0.655000	0.94253	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	34	0	0	0	1	0	28	34				
RBCK1	10616	broad.mit.edu	37	20	409724	409724	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:409724C>T	ENST00000356286.5	+	11	2143	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	RBCK1_ENST00000353660.3_Missense_Mutation_p.R438C|RBCK1_ENST00000382181.2_Missense_Mutation_p.R310C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGGGCCCACGCTGGGGCCC	0.637																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(1438-1440)Cgc>Tgc		RanBP-type and C3HC4-type zinc finger containing 1							35.0	39.0	37.0					20																	409724		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409724C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1438C>T	20.37:g.409724C>T	ENSP00000348632:p.Arg480Cys					RBCK1_ENST00000382181.2_Missense_Mutation_p.R310C|RBCK1_ENST00000353660.3_Missense_Mutation_p.R438C	p.R480C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			11	2143	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	480					O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.1438C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018491	0.93404	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	T;T;T	0.63744	-0.06;-0.06;-0.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81052	-0.1107	10	0.40728	T	0.16	-5.8773	15.9126	0.79482	0.0:1.0:0.0:0.0	.	310;438;480	A6PVK0;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	C	480;438;310	ENSP00000348632:R480C;ENSP00000254960:R438C;ENSP00000371616:R310C	ENSP00000254960:R438C	R	+	1	0	RBCK1	357724	0.999000	0.42202	0.966000	0.40874	0.992000	0.81027	4.356000	0.59430	2.624000	0.88883	0.655000	0.94253	CGC		0.637	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		18	14	0	0	0	1	0	18	14				
FBXL2	25827	broad.mit.edu	37	3	33415377	33415377	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33415377C>T	ENST00000484457.1	+	9	712	c.621C>T	c.(619-621)tgC>tgT	p.C207C	FBXL2_ENST00000538892.1_Silent_p.C139C|FBXL2_ENST00000507198.1_Silent_p.C139C|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Silent_p.C123C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AGAATTACTGCCATGAGCTTG	0.473																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(619-621)tgC>tgT		F-box and leucine-rich repeat protein 2							165.0	155.0	158.0					3																	33415377		2203	4300	6503	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415377C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.621C>T	3.37:g.33415377C>T						FBXL2_ENST00000538892.1_Silent_p.C139C|FBXL2_ENST00000538181.1_Silent_p.C123C|FBXL2_ENST00000507198.1_Silent_p.C139C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR	p.C207C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			9	712	+			207						Silent	SNP	ENST00000484457.1	37	c.621C>T	CCDS2658.1																																																																																				0.473	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		12	27	0	0	0	1	0	12	27				
LCA5L	150082	broad.mit.edu	37	21	40781905	40781905	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40781905C>T	ENST00000358268.2	-	9	1810	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	LCA5L_ENST00000380671.2_Splice_Site_p.D428N|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Splice_Site_p.D428N|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	428										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTAAAATTACCTTCATATTTT	0.294																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.e9+1		Leber congenital amaurosis 5-like							88.0	82.0	84.0					21																	40781905		2202	4296	6498	SO:0001630	splice_region_variant	150082							g.chr21:40781905C>T	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1282+1G>A	21.37:g.40781905C>T						LCA5L_ENST00000288350.3_Splice_Site_p.D428_splice|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000380671.2_Splice_Site_p.D428_splice|WRB_ENST00000541890.1_Intron	p.D428_splice			O95447	LCA5L_HUMAN			9	1810	-		Prostate(19;1.2e-06)	428					D3DSI0|Q3ZCT0	Splice_Site	SNP	ENST00000358268.2	37	c.1282_splice	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423758	0.43020	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.55413	0.52;0.52;0.52	4.51	3.55	0.40652	.	1.223630	0.05872	N	0.624754	T	0.50309	0.1608	L	0.55481	1.735	0.33504	D	0.590266	B	0.14012	0.009	B	0.12156	0.007	T	0.46133	-0.9213	9	.	.	.	-2.8614	11.3449	0.49554	0.0:0.8162:0.1838:0.0	.	428	O95447	LCA5L_HUMAN	N	428	ENSP00000288350:D428N;ENSP00000370046:D428N;ENSP00000351008:D428N	.	D	-	1	0	LCA5L	39703775	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.303000	0.43646	2.228000	0.72767	0.650000	0.86243	GAT		0.294	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	Missense_Mutation	11	10	0	0	0	1	0	11	10				
RXRA	6256	broad.mit.edu	37	9	137321010	137321010	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137321010G>A	ENST00000481739.1	+	7	1019	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.G226R	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	323	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CGTGAAGGACGGGATCCTCCT	0.687																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(676-678)Ggg>Agg		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						82.0	79.0	80.0					9																	137321010		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137321010G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.967G>A	9.37:g.137321010G>A	ENSP00000419692:p.Gly323Arg					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G323R	p.G226R			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	6	1599	+			323			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.676G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472352	0.84533	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96554	-4.05;-4.05	4.26	3.36	0.38483	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97394	0.9991	10	0.72032	D	0.01	.	12.2752	0.54730	0.0844:0.0:0.9156:0.0	.	323	P19793	RXRA_HUMAN	R	323;226	ENSP00000419692:G323R;ENSP00000442123:G226R	ENSP00000419692:G323R	G	+	1	0	RXRA	136460831	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	9.401000	0.97294	0.911000	0.36747	0.491000	0.48974	GGG		0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		8	47	0	0	0	1	0	8	47				
PBXIP1	57326	broad.mit.edu	37	1	154918557	154918557	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154918557C>T	ENST00000368463.3	-	10	1664	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	PBXIP1_ENST00000539880.1_Silent_p.K358K|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Silent_p.K502K|PBXIP1_ENST00000542459.1_Silent_p.K376K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	531					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTTGCCCTCCTTCTTGCTCC	0.607																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1591-1593)aaG>aaA		pre-B-cell leukemia homeobox interacting protein 1							145.0	149.0	148.0					1																	154918557		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918557C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1593G>A	1.37:g.154918557C>T						PBXIP1_ENST00000539880.1_Silent_p.K358K|PBXIP1_ENST00000368465.1_Silent_p.K502K|PBXIP1_ENST00000542459.1_Silent_p.K376K	p.K531K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1664	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		531					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1593G>A	CCDS1074.1																																																																																				0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		5	140	0	0	0	1	0	5	140				
RGAG1	57529	broad.mit.edu	37	X	109696269	109696269	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:109696269G>A	ENST00000465301.2	+	3	2670	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	RGAG1_ENST00000540313.1_Silent_p.T808T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	808										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGATAGCCACGCCTCTGAGAT	0.542																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2422-2424)acG>acA		retrotransposon gag domain containing 1							97.0	92.0	94.0					X																	109696269		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109696269G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2424G>A	X.37:g.109696269G>A						RGAG1_ENST00000540313.1_Silent_p.T808T	p.T808T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2670	+			808					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.2424G>A	CCDS14552.1																																																																																				0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		46	6	0	0	0	1	0	46	6				
KATNB1	10300	broad.mit.edu	37	16	57789088	57789088	+	Missense_Mutation	SNP	C	C	T	rs149569503	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57789088C>T	ENST00000379661.3	+	15	1746	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CAAGGCTGAGCCTGCCATCAT	0.662																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1354-1356)Cct>Tct		katanin p80 (WD repeat containing) subunit B 1		C	SER/PRO	2,4392	4.2+/-10.8	0,2,2195	26.0	29.0	28.0		1354	4.4	1.0	16	dbSNP_134	28	25,8575	17.3+/-56.4	0,25,4275	yes	missense	KATNB1	NM_005886.2	74	0,27,6470	TT,TC,CC		0.2907,0.0455,0.2078	possibly-damaging	452/656	57789088	27,12967	2197	4300	6497	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57789088C>T	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1354C>T	16.37:g.57789088C>T	ENSP00000368982:p.Pro452Ser						p.P452S	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			15	1746	+		all_neural(199;0.223)	452			Interaction with KATNA1 and NDEL1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1354C>T	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374091	0.82573	4.55E-4	0.002907	ENSG00000140854	ENST00000379661	T	0.55413	0.52	5.33	4.37	0.52481	.	0.153898	0.64402	D	0.000014	T	0.46308	0.1386	M	0.62723	1.935	0.58432	D	0.999997	P	0.35575	0.51	B	0.25140	0.058	T	0.48139	-0.9061	10	0.44086	T	0.13	-19.0266	13.4506	0.61169	0.0:0.9238:0.0:0.0762	.	452	Q9BVA0	KTNB1_HUMAN	S	452	ENSP00000368982:P452S	ENSP00000368982:P452S	P	+	1	0	KATNB1	56346589	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	2.253000	0.43205	1.257000	0.44085	0.650000	0.86243	CCT		0.662	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			5	16	0	0	0	1	0	5	16				
LRRC8E	80131	broad.mit.edu	37	19	7965683	7965683	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7965683C>T	ENST00000306708.6	+	3	2377	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	759					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGCTTAGAGGCGCTGCCAGAA	0.637																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(2275-2277)gCg>gTg		leucine rich repeat containing 8 family, member E							35.0	40.0	38.0					19																	7965683		2203	4298	6501	SO:0001583	missense	80131					integral to membrane		g.chr19:7965683C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2276C>T	19.37:g.7965683C>T	ENSP00000306524:p.Ala759Val					AC010336.1_ENST00000539278.1_5'UTR	p.A759V	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	2377	+			759					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.2276C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.683093	0.00745	.	.	ENSG00000171017	ENST00000306708	T	0.24151	1.87	4.35	1.03	0.20045	.	0.458112	0.23005	N	0.053023	T	0.07999	0.0200	N	0.02830	-0.485	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36335	-0.9752	10	0.12430	T	0.62	.	5.7974	0.18394	0.0:0.6544:0.1603:0.1853	.	759	Q6NSJ5	LRC8E_HUMAN	V	759	ENSP00000306524:A759V	ENSP00000306524:A759V	A	+	2	0	LRRC8E	7871683	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	-1.096000	0.03353	0.137000	0.18759	-0.224000	0.12420	GCG		0.637	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		17	23	0	0	0	1	0	17	23				
TOPORS	10210	broad.mit.edu	37	9	32541790	32541790	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32541790G>A	ENST00000360538.2	-	3	2849	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TOPORS_ENST00000379858.1_Silent_p.D846D	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	911	Interaction with UBE2I.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTGTCACTGTCAATGGTAA	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2731-2733)gaC>gaT		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							201.0	188.0	192.0					9																	32541790		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541790G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2733C>T	9.37:g.32541790G>A						TOPORS_ENST00000379858.1_Silent_p.D846D	p.D911D	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2849	-			911			Interaction with UBE2I.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2733C>T	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		50	78	0	0	0	1	0	50	78				
C16orf70	80262	broad.mit.edu	37	16	67183701	67183701	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67183701C>T	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.A230T	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AACACATCTGCGTCGCCCTTA	0.577																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(688-690)Gca>Aca		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							33.0	35.0	34.0					16																	67183701		2008	4159	6167	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183701C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183701C>T							p.A230T	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1223	-			230					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.688G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	c	13.12	2.142385	0.37825	.	.	ENSG00000237172	ENST00000449549	T	0.40756	1.02	5.02	3.03	0.35002	.	.	.	.	.	T	0.29524	0.0736	L	0.33137	0.985	0.31899	N	0.616206	P	0.38677	0.642	B	0.36845	0.234	T	0.31308	-0.9948	9	0.37606	T	0.19	-23.923	8.1134	0.30928	0.1595:0.7562:0.0:0.0843	.	230	Q6UX72	B3GN9_HUMAN	T	230	ENSP00000400157:A230T	ENSP00000400157:A230T	A	-	1	0	B3GNT9	65741202	0.972000	0.33761	0.443000	0.26883	0.280000	0.26924	2.690000	0.47001	1.079000	0.41038	0.556000	0.70494	GCA		0.577	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		7	18	0	0	0	1	0	7	18				
ANKS6	203286	broad.mit.edu	37	9	101540677	101540677	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101540677G>A	ENST00000353234.4	-	7	1445	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	ANKS6_ENST00000375019.2_Silent_p.F165F|ANKS6_ENST00000540940.1_Silent_p.F271F|ANKS6_ENST00000375018.1_Silent_p.F466F			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	466						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAGCTTTCGGAACCGATTGG	0.587																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1396-1398)ttC>ttT		ankyrin repeat and sterile alpha motif domain containing 6							38.0	46.0	43.0					9																	101540677		2094	4219	6313	SO:0001819	synonymous_variant	203286							g.chr9:101540677G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1398C>T	9.37:g.101540677G>A						ANKS6_ENST00000375018.1_Silent_p.F466F|ANKS6_ENST00000540940.1_Silent_p.F271F|ANKS6_ENST00000375019.2_Silent_p.F165F	p.F466F			Q68DC2	ANKS6_HUMAN			7	1445	-		Acute lymphoblastic leukemia(62;0.0527)	466					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.1398C>T	CCDS43856.1																																																																																				0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		8	10	0	0	0	1	0	8	10				
SLC9B1	150159	broad.mit.edu	37	4	103822451	103822451	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103822451G>T	ENST00000296422.7	-	12	1512	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	457					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGGGTGCGGAGACTCTTGCTG	0.423																																						ENST00000296422.7																			0											c.(1369-1371)gtC>gtA		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							79.0	81.0	80.0					4																	103822451		2185	4268	6453	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822451G>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1371C>A	4.37:g.103822451G>T						SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	p.V457V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			12	1512	-			457					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1371C>A	CCDS34041.1																																																																																				0.423	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		8	144	1	0	0.000978159	1	0.000994766	8	144				
MRPL4	51073	broad.mit.edu	37	19	10369391	10369391	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10369391C>T	ENST00000253099.6	+	8	1026				MRPL4_ENST00000590669.1_Missense_Mutation_p.R257C|MRPL4_ENST00000307422.5_Intron|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000393733.2_Intron	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCCTAGAGTGCGCATGTGCAG	0.592																																						ENST00000590669.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(769-771)Cgc>Tgc		mitochondrial ribosomal protein L4							91.0	93.0	92.0					19																	10369391		2203	4300	6503	SO:0001627	intron_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369391C>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.739+30C>T	19.37:g.10369391C>T						MRPL4_ENST00000253099.6_Intron|MRPL4_ENST00000393733.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Intron	p.R257C			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	8	1013	+		Renal(1328;0.0112)	0					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.769C>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	c	8.002	0.755599	0.15846	.	.	ENSG00000105364	ENST00000393733	.	.	.	3.21	-4.05	0.03998	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	6	.	.	.	.	0.478	0.00543	0.2489:0.3213:0.1628:0.267	.	257	Q9BYD3-2	.	C	257	.	.	R	+	1	0	MRPL4	10230391	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.512000	0.00446	-0.948000	0.03668	-0.605000	0.04089	CGC		0.592	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			12	39	0	0	0	1	0	12	39				
CLSTN1	22883	broad.mit.edu	37	1	9811643	9811643	+	Silent	SNP	G	G	A	rs141907444	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9811643G>A	ENST00000377298.4	-	5	1329	c.537C>T	c.(535-537)taC>taT	p.Y179Y	CLSTN1_ENST00000361311.4_Silent_p.Y169Y|CLSTN1_ENST00000377288.3_Silent_p.Y179Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AAATGCTGTCGTACTGCTTCC	0.537													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.0					ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(535-537)taC>taT		calsyntenin 1		G	,	9,4397	15.5+/-35.6	0,9,2194	117.0	104.0	108.0		537,507	-3.0	0.3	1	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLSTN1	NM_001009566.1,NM_014944.3	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	179/982,169/972	9811643	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811643G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.537C>T	1.37:g.9811643G>A						CLSTN1_ENST00000377288.3_Silent_p.Y179Y|CLSTN1_ENST00000361311.4_Silent_p.Y169Y	p.Y179Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1329	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	179			Cadherin 2.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.537C>T	CCDS30580.1																																																																																				0.537	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			20	43	0	0	0	1	0	20	43				
TNFRSF21	27242	broad.mit.edu	37	6	47200701	47200701	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47200701G>A	ENST00000296861.2	-	6	2161	c.1768C>T	c.(1768-1770)Cgc>Tgc	p.R590C		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	590					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGTCCAGGCGTACCTGCCGC	0.532																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1768-1770)Cgc>Tgc		tumor necrosis factor receptor superfamily, member 21							65.0	65.0	65.0					6																	47200701		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200701G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1768C>T	6.37:g.47200701G>A	ENSP00000296861:p.Arg590Cys						p.R590C	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2161	-			590					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1768C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573826	0.86542	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70986	-0.53	5.84	5.84	0.93424	.	0.046611	0.85682	D	0.000000	T	0.72301	0.3443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76143	-0.3067	10	0.87932	D	0	.	18.3151	0.90218	0.0:0.0:1.0:0.0	.	590	O75509	TNR21_HUMAN	C	590;279	ENSP00000296861:R590C	ENSP00000296861:R590C	R	-	1	0	TNFRSF21	47308660	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CGC		0.532	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		27	41	0	0	0	1	0	27	41				
PITPNM1	9600	broad.mit.edu	37	11	67265031	67265031	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67265031G>A	ENST00000534749.1	-	12	2090	c.1902C>T	c.(1900-1902)agC>agT	p.S634S	PITPNM1_ENST00000436757.2_Silent_p.S634S|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.S634S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGCCATGTCGCTGGGGATGC	0.672																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1900-1902)agC>agT		phosphatidylinositol transfer protein, membrane-associated 1							79.0	86.0	84.0					11																	67265031		2200	4294	6494	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67265031G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1902C>T	11.37:g.67265031G>A						PITPNM1_ENST00000436757.2_Silent_p.S634S|PITPNM1_ENST00000534749.1_Silent_p.S634S	p.S634S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			13	2127	-			634					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.1902C>T	CCDS31620.1																																																																																				0.672	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		26	41	0	0	0	1	0	26	41				
KLHL10	317719	broad.mit.edu	37	17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39994252C>T	ENST00000293303.4	+	1	221	c.68C>T	c.(67-69)gCg>gTg	p.A23V	NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000269534.8_5'Flank|RN7SL871P_ENST00000583512.1_RNA|KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.A23V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562																																						ENST00000293303.4																			1	Substitution - Missense(1)	p.A23V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(67-69)gCg>gTg		kelch-like family member 10							140.0	139.0	140.0					17																	39994252		2083	4210	6293	SO:0001583	missense	317719					cytoplasm		g.chr17:39994252C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.68C>T	17.37:g.39994252C>T	ENSP00000293303:p.Ala23Val					KLHL10_ENST00000485613.1_3'UTR	p.A23V	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			1	221	+		Breast(137;0.000162)	23					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.68C>T	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842145	0.51057	.	.	ENSG00000161594	ENST00000448203;ENST00000293303;ENST00000438813	D;T;D	0.83914	-1.78;-0.43;-1.65	4.98	4.98	0.66077	BTB/POZ fold (1);	0.225852	0.38058	N	0.001821	T	0.78110	0.4232	L	0.31926	0.97	0.44523	D	0.997478	D;P	0.55605	0.972;0.942	P;B	0.46049	0.502;0.446	T	0.76963	-0.2764	10	0.31617	T	0.26	.	15.1739	0.72896	0.0:1.0:0.0:0.0	.	23;23	B4DXV2;Q6JEL2	.;KLH10_HUMAN	V	23	ENSP00000391983:A23V;ENSP00000293303:A23V;ENSP00000416221:A23V	ENSP00000293303:A23V	A	+	2	0	KLHL10	37247778	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.245000	0.65405	2.622000	0.88805	0.650000	0.86243	GCG		0.562	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		29	40	0	0	0	1	0	29	40				
NTRK1	4914	broad.mit.edu	37	1	156846280	156846280	+	Missense_Mutation	SNP	G	G	A	rs554180226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156846280G>A	ENST00000524377.1	+	14	1762	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R538H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R568H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R571H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CACATCGTGCGCTTCTTCGGC	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16917	0.0		0.0	False		,,,				2504	0.001					ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1702-1704)cGc>cAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						46.0	41.0	43.0					1																	156846280		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846280G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1721G>A	1.37:g.156846280G>A	ENSP00000431418:p.Arg574His	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R538H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R571H|NTRK1_ENST00000524377.1_Missense_Mutation_p.R574H	p.R568H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1823	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		574			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1703G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374988	0.82573	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124856	0.35407	N	0.003233	D	0.91355	0.7273	L	0.56124	1.755	0.42336	D	0.992319	D;D;D;D	0.89917	0.998;0.976;1.0;1.0	D;B;D;D	0.78314	0.973;0.422;0.98;0.991	D	0.91675	0.5353	10	0.72032	D	0.01	.	7.8463	0.29426	0.1656:0.0:0.8344:0.0	.	571;568;574;538	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	538;568;574;571	ENSP00000376120:R538H;ENSP00000357179:R568H;ENSP00000431418:R574H;ENSP00000351486:R571H	ENSP00000351486:R571H	R	+	2	0	NTRK1	155112904	0.393000	0.25237	1.000000	0.80357	0.993000	0.82548	2.137000	0.42130	2.746000	0.94184	0.561000	0.74099	CGC		0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	21	0	0	0	1	0	12	21				
PRSS27	83886	broad.mit.edu	37	16	2764112	2764112	+	Silent	SNP	C	C	T	rs375317802		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2764112C>T	ENST00000302641.3	-	4	516	c.462G>A	c.(460-462)acG>acA	p.T154T	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	154	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						AGTTCATGCCCGTCTCAAAGA	0.622																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(460-462)acG>acA		protease, serine 27							98.0	95.0	96.0					16																	2764112		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764112C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.462G>A	16.37:g.2764112C>T							p.T154T	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	516	-			154			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.462G>A	CCDS10476.1																																																																																				0.622	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		21	42	0	0	0	1	0	21	42				
HSPG2	3339	broad.mit.edu	37	1	22167685	22167685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22167685C>T	ENST00000374695.3	-	71	9501	c.9422G>A	c.(9421-9423)cGc>cAc	p.R3141H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3141	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGCAGAGGAGCGGGGCTCCCC	0.667																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9421-9423)cGc>cAc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						35.0	40.0	38.0					1																	22167685		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22167685C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9422G>A	1.37:g.22167685C>T	ENSP00000363827:p.Arg3141His						p.R3141H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	71	9501	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3141			Ig-like C2-type 17.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9422G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969888	0.53614	.	.	ENSG00000142798	ENST00000374695	T	0.67345	-0.26	4.74	3.82	0.43975	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001150	T	0.65943	0.2740	M	0.83312	2.635	0.41814	D	0.989985	B;B	0.24882	0.015;0.113	B;B	0.24848	0.035;0.056	T	0.62011	-0.6944	10	0.15066	T	0.55	.	12.1011	0.53785	0.0:0.9148:0.0:0.0852	.	1081;3141	Q59EG0;P98160	.;PGBM_HUMAN	H	3141	ENSP00000363827:R3141H	ENSP00000363827:R3141H	R	-	2	0	HSPG2	22040272	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.188000	0.32102	1.209000	0.43321	0.561000	0.74099	CGC		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	15	0	0	0	1	0	9	15				
RASSF9	9182	broad.mit.edu	37	12	86198984	86198984	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86198984C>T	ENST00000361228.3	-	2	1172	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	268					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTCTTCCAGCTGTTCAATTC	0.378																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(802-804)caG>caA		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							111.0	106.0	108.0					12																	86198984		1890	4114	6004	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198984C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.804G>A	12.37:g.86198984C>T							p.Q268Q	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1172	-			268					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.804G>A	CCDS44950.1																																																																																				0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			10	50	0	0	0	1	0	10	50				
DDX46	9879	broad.mit.edu	37	5	134099638	134099638	+	Missense_Mutation	SNP	G	G	A	rs200919517		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134099638G>A	ENST00000354283.4	+	2	197	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	DDX46_ENST00000452510.2_Missense_Mutation_p.R21Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	21	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGGAAGTCGGTCTAGAAGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16633	0.0		0.001	False		,,,				2504	0.0				Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(61-63)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46		G	GLN/ARG	0,4406		0,0,2203	81.0	78.0	79.0		62	5.2	1.0	5		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX46	NM_014829.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	21/1032	134099638	1,13005	2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134099638G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.62G>A	5.37:g.134099638G>A	ENSP00000346236:p.Arg21Gln					DDX46_ENST00000354283.4_Missense_Mutation_p.R21Q	p.R21Q	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	220	+			21			Arg-rich.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.62G>A	CCDS34240.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.6	4.436298	0.83885	0.0	1.16E-4	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.44482	0.92;0.92	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.82823	2.61	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.62765	-0.6785	10	0.27082	T	0.32	-8.1243	18.9912	0.92793	0.0:0.0:1.0:0.0	.	21	Q7L014	DDX46_HUMAN	Q	21	ENSP00000416534:R21Q;ENSP00000346236:R21Q	ENSP00000346236:R21Q	R	+	2	0	DDX46	134127537	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	8.752000	0.91632	2.708000	0.92522	0.650000	0.86243	CGG		0.458	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		27	37	0	0	0	1	0	27	37				
MTHFSD	64779	broad.mit.edu	37	16	86582121	86582121	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86582121T>C	ENST00000360900.6	-	4	325	c.300A>G	c.(298-300)acA>acG	p.T100T	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000381214.5_Silent_p.T100T|MTHFSD_ENST00000322911.6_Silent_p.T99T|MTHFSD_ENST00000543303.2_Silent_p.T99T|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	100							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGGGGGTGGTGTGATCTTAT	0.408																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(295-297)acA>acG		methenyltetrahydrofolate synthetase domain containing							159.0	150.0	153.0					16																	86582121		1875	4097	5972	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86582121T>C	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.300A>G	16.37:g.86582121T>C						MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000543303.2_Silent_p.T99T|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000360900.6_Silent_p.T100T|MTHFSD_ENST00000381214.5_Silent_p.T100T	p.T99T	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN			4	347	-			100					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.297A>G	CCDS54047.1																																																																																				0.408	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		39	48	0	0	0	1	0	39	48				
APBB1	322	broad.mit.edu	37	11	6415469	6415469	+	IGR	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6415469T>C	ENST00000609360.1	-	0	2642				SMPD1_ENST00000356761.2_Missense_Mutation_p.S454P|SMPD1_ENST00000299397.3_Missense_Mutation_p.S466P|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000342245.4_Missense_Mutation_p.S510P|SMPD1_ENST00000527275.1_Missense_Mutation_p.S509P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTCCGGGAGCTCTCACGTGGT	0.572																																					GBM(147;1810 2556 5672 39622)	ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(1528-1530)Tct>Cct		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						77.0	71.0	73.0					11																	6415469		2201	4296	6497	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6415469T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415469T>C						SMPD1_ENST00000299397.3_Missense_Mutation_p.S466P|SMPD1_ENST00000527275.1_Missense_Mutation_p.S509P|SMPD1_ENST00000356761.2_Missense_Mutation_p.S454P	p.S510P	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1696	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	508					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1528T>C		.	.	.	.	.	.	.	.	.	.	T	16.34	3.096642	0.56075	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	4.68	4.68	0.58851	.	0.167544	0.40728	N	0.001027	D	0.95294	0.8473	M	0.87456	2.885	0.44816	D	0.997826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.976;0.992;0.983	D	0.95696	0.8745	10	0.72032	D	0.01	-23.4348	12.1259	0.53917	0.0:0.0:0.0:1.0	.	509;466;508	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	P	466;454;510;509	ENSP00000299397:S466P;ENSP00000349203:S454P;ENSP00000340409:S510P;ENSP00000435350:S509P	ENSP00000299397:S466P	S	+	1	0	SMPD1	6372045	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.504000	0.53347	1.985000	0.57927	0.379000	0.24179	TCT		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		14	21	0	0	0	1	0	14	21				
EEF1D	1936	broad.mit.edu	37	8	144672148	144672148	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144672148G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.A85V|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A35V|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A35V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGAGGCGGCCGCCTGTGTGGC	0.687																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(253-255)gCg>gTg		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							18.0	20.0	19.0					8																	144672148		2201	4299	6500	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144672148G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-3129C>T	8.37:g.144672148G>A						EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A35V|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A35V|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron	p.A85V			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	482	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		33					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.254C>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653372	0.29425	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000337369;ENST00000526710;ENST00000531281;ENST00000532596;ENST00000524883;ENST00000531670;ENST00000528519;ENST00000529832;ENST00000530306;ENST00000530545;ENST00000525261;ENST00000534804;ENST00000524900;ENST00000526135;ENST00000531953;ENST00000526133	.	.	.	5.31	2.46	0.29980	.	0.000000	0.41001	D	0.000980	T	0.42223	0.1193	L	0.32530	0.975	0.45129	D	0.998144	B;B;B	0.21520	0.008;0.057;0.056	B;B;B	0.17979	0.006;0.009;0.02	T	0.18713	-1.0328	9	0.48119	T	0.1	.	7.6395	0.28286	0.1539:0.1359:0.7102:0.0	.	35;85;35	D3DWK1;E9PRY8;P29692-2	.;.;.	V	85;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35;35	.	ENSP00000338323:A35V	A	-	2	0	EEF1D	144743291	0.946000	0.32159	0.032000	0.17829	0.061000	0.15899	3.178000	0.50879	0.207000	0.20607	0.555000	0.69702	GCG		0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		6	21	0	0	0	1	0	6	21				
FBXO44	93611	broad.mit.edu	37	1	11721246	11721246	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11721246C>T	ENST00000251547.5	+	6	766	c.684C>T	c.(682-684)ggC>ggT	p.G228G	FBXO44_ENST00000376770.1_Silent_p.G228G|FBXO44_ENST00000251546.4_Missense_Mutation_p.R187W|FBXO44_ENST00000376762.4_Missense_Mutation_p.R187W|FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000376760.1_Missense_Mutation_p.R187W|FBXO44_ENST00000376768.1_Missense_Mutation_p.R219W	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	228	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCACGGCGGCGTGGACA	0.662																																						ENST00000251546.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(559-561)Cgg>Tgg		F-box protein 44							93.0	91.0	92.0					1																	11721246		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11721246C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.684C>T	1.37:g.11721246C>T						FBXO44_ENST00000376768.1_Missense_Mutation_p.R219W|FBXO44_ENST00000376760.1_Missense_Mutation_p.R187W|FBXO44_ENST00000251547.5_Silent_p.G228G|FBXO44_ENST00000376770.1_Silent_p.G228G|FBXO44_ENST00000376762.4_Missense_Mutation_p.R187W	p.R187W	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	5	796	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.559C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931002	0.73327	.	.	ENSG00000132879	ENST00000251546;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T	0.44881	0.91;1.04;0.91;0.91	4.82	-0.109	0.13584	.	0.222888	0.37669	N	0.001997	T	0.25568	0.0622	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.13602	-1.0503	9	0.87932	D	0	-25.2829	0.6968	0.00900	0.4039:0.2494:0.1343:0.2124	.	219;187	B7Z1P2;Q9H4M3-2	.;.	W	187;219;187;187	ENSP00000251546:R187W;ENSP00000365959:R219W;ENSP00000365953:R187W;ENSP00000365951:R187W	ENSP00000251546:R187W	R	+	1	2	FBXO44	11643833	0.093000	0.21703	0.999000	0.59377	0.997000	0.91878	-0.980000	0.03770	0.065000	0.16485	0.561000	0.74099	CGG		0.662	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		19	32	0	0	0	1	0	19	32				
KIAA0895L	653319	broad.mit.edu	37	16	67210861	67210861	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67210861C>T	ENST00000290881.7	-	8	2195	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.V423V			Q68EN5	K895L_HUMAN	KIAA0895-like	423										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCAGGTGGTCCACATCCTCAT	0.622																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1267-1269)gtG>gtA		KIAA0895-like							58.0	62.0	61.0					16																	67210861		2005	4184	6189	SO:0001819	synonymous_variant	653319							g.chr16:67210861C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1269G>A	16.37:g.67210861C>T						KIAA0895L_ENST00000561679.1_Silent_p.V268V|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Silent_p.V423V|KIAA0895L_ENST00000563831.2_5'UTR	p.V423V			Q68EN5	K895L_HUMAN			8	2195	-			423					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1269G>A	CCDS42177.1																																																																																				0.622	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		21	35	0	0	0	1	0	21	35				
NGEF	25791	broad.mit.edu	37	2	233759598	233759598	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233759598G>A	ENST00000264051.3	-	6	1135	c.857C>T	c.(856-858)gCg>gTg	p.A286V	NGEF_ENST00000539537.1_Missense_Mutation_p.A9V|NGEF_ENST00000373552.4_Missense_Mutation_p.A194V|NGEF_ENST00000409079.1_Missense_Mutation_p.A194V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTAGTAGGACGCCTCGGAAGT	0.582																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(856-858)gCg>gTg		neuronal guanine nucleotide exchange factor							119.0	105.0	110.0					2																	233759598		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233759598G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.857C>T	2.37:g.233759598G>A	ENSP00000264051:p.Ala286Val					NGEF_ENST00000409079.1_Missense_Mutation_p.A194V|NGEF_ENST00000539537.1_Missense_Mutation_p.A9V|NGEF_ENST00000373552.4_Missense_Mutation_p.A194V	p.A286V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1135	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	286			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.857C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672613	0.88348	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	L	0.53780	1.695	0.80722	D	1	D;D;D	0.89917	0.996;0.972;1.0	P;P;D	0.91635	0.889;0.698;0.999	T	0.78147	-0.2317	10	0.62326	D	0.03	-31.3689	18.7943	0.91988	0.0:0.0:1.0:0.0	.	194;194;286	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	V	286;194;176;9;9;9;194	ENSP00000264051:A286V;ENSP00000362653:A194V;ENSP00000439035:A9V;ENSP00000401063:A9V;ENSP00000412614:A9V;ENSP00000387033:A194V	ENSP00000264051:A286V	A	-	2	0	NGEF	233467842	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.208000	0.72165	2.440000	0.82611	0.655000	0.94253	GCG		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		31	46	0	0	0	1	0	31	46				
LONP1	9361	broad.mit.edu	37	19	5707726	5707726	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5707726G>A	ENST00000360614.3	-	6	1201	c.1044C>T	c.(1042-1044)gaC>gaT	p.D348D	LONP1_ENST00000593119.1_Silent_p.D284D|LONP1_ENST00000585374.1_Silent_p.D234D|LONP1_ENST00000590729.1_Silent_p.D218D|LONP1_ENST00000540670.2_Silent_p.D152D	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCCAGGACGTCCTGCAGCT	0.682																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1042-1044)gaC>gaT		lon peptidase 1, mitochondrial							62.0	64.0	64.0					19																	5707726		2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5707726G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1044C>T	19.37:g.5707726G>A						LONP1_ENST00000585374.1_Silent_p.D234D|LONP1_ENST00000593119.1_Silent_p.D284D|LONP1_ENST00000590729.1_Silent_p.D218D|LONP1_ENST00000540670.2_Silent_p.D152D	p.D348D	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			6	1201	-			348			Lon.			Silent	SNP	ENST00000360614.3	37	c.1044C>T	CCDS12148.1																																																																																				0.682	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		31	42	0	0	0	1	0	31	42				
CIC	23152	broad.mit.edu	37	19	42795296	42795296	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42795296G>A	ENST00000575354.2	+	10	2416	c.2376G>A	c.(2374-2376)gcG>gcA	p.A792A	CIC_ENST00000572681.2_Silent_p.A1701A|CIC_ENST00000160740.3_Silent_p.A792A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	792	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACTGCGGGCTCAGGAG	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5101-5103)gcG>gcA		capicua transcriptional repressor							13.0	15.0	14.0					19																	42795296		2196	4288	6484	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795296G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2376G>A	19.37:g.42795296G>A						CIC_ENST00000160740.3_Silent_p.A792A|CIC_ENST00000575354.2_Silent_p.A792A	p.A1701A			Q96RK0	CIC_HUMAN			11	5171	+		Prostate(69;0.00682)	792					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.5103G>A	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	17	0	0	0	1	0	9	17				
ULBP2	80328	broad.mit.edu	37	6	150267638	150267638	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150267638G>A	ENST00000367351.3	+	3	553	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	160	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGTGGACAACGGTTCATCCTG	0.478																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(478-480)acG>acA		UL16 binding protein 2							233.0	214.0	221.0					6																	150267638		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267638G>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.480G>A	6.37:g.150267638G>A							p.T160T	NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	553	+		Ovarian(120;0.0907)	160			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.480G>A	CCDS5222.1																																																																																				0.478	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			52	87	0	0	0	1	0	52	87				
LRP2	4036	broad.mit.edu	37	2	170062058	170062058	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170062058C>T	ENST00000263816.3	-	41	7931	c.7646G>A	c.(7645-7647)aGt>aAt	p.S2549N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2549					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATGACCAGACTGCTGTTCAC	0.512																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7645-7647)aGt>aAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						127.0	116.0	120.0					2																	170062058		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062058C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7646G>A	2.37:g.170062058C>T	ENSP00000263816:p.Ser2549Asn						p.S2549N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7931	-			2549					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7646G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	4.862	0.160243	0.09287	.	.	ENSG00000081479	ENST00000263816	D	0.94931	-3.56	5.9	3.17	0.36434	Six-bladed beta-propeller, TolB-like (1);	0.202935	0.64402	N	0.000013	D	0.85544	0.5721	N	0.04043	-0.29	0.80722	D	1	B	0.19073	0.033	B	0.25614	0.062	T	0.76440	-0.2958	10	0.35671	T	0.21	.	9.9292	0.41512	0.0:0.7024:0.0:0.2976	.	2549	P98164	LRP2_HUMAN	N	2549	ENSP00000263816:S2549N	ENSP00000263816:S2549N	S	-	2	0	LRP2	169770304	1.000000	0.71417	0.545000	0.28153	0.026000	0.11368	1.580000	0.36547	0.415000	0.25817	-0.258000	0.10820	AGT		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	25	0	0	0	1	0	28	25				
LLGL1	3996	broad.mit.edu	37	17	18141473	18141473	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18141473G>A	ENST00000316843.4	+	15	2093	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	666					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TCTTTCCGGCGCATTCGCAAG	0.617																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1996-1998)cGc>cAc		lethal giant larvae homolog 1 (Drosophila)							46.0	45.0	46.0					17																	18141473		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141473G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1997G>A	17.37:g.18141473G>A	ENSP00000321537:p.Arg666His						p.R666H	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			15	2093	+	all_neural(463;0.228)		666					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1997G>A	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856614	0.97030	.	.	ENSG00000131899	ENST00000316843	T	0.53640	0.61	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76526	-0.2927	10	0.66056	D	0.02	-31.1795	20.3206	0.98668	0.0:0.0:1.0:0.0	.	666	Q15334	L2GL1_HUMAN	H	666	ENSP00000321537:R666H	ENSP00000321537:R666H	R	+	2	0	LLGL1	18082198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.490000	0.97952	2.813000	0.96785	0.561000	0.74099	CGC		0.617	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			8	24	0	0	0	1	0	8	24				
WDR72	256764	broad.mit.edu	37	15	53908404	53908404	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53908404C>A	ENST00000396328.1	-	15	2238	c.1999G>T	c.(1999-2001)Gtc>Ttc	p.V667F	WDR72_ENST00000557913.1_Missense_Mutation_p.V664F|WDR72_ENST00000559418.1_Missense_Mutation_p.V677F|WDR72_ENST00000360509.5_Missense_Mutation_p.V667F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	667										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACAGGCAAGACATTAAAAGGT	0.343																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1999-2001)Gtc>Ttc		WD repeat domain 72							58.0	56.0	56.0					15																	53908404		2193	4292	6485	SO:0001583	missense	256764							g.chr15:53908404C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1999G>T	15.37:g.53908404C>A	ENSP00000379619:p.Val667Phe					WDR72_ENST00000557913.1_Missense_Mutation_p.V664F|WDR72_ENST00000360509.5_Missense_Mutation_p.V667F|WDR72_ENST00000559418.1_Missense_Mutation_p.V677F	p.V667F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2238	-			667					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1999G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324421	0.41197	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.51817	0.69;0.69	5.23	3.09	0.35607	.	0.090825	0.46442	D	0.000288	T	0.54838	0.1883	L	0.36672	1.1	0.37303	D	0.908763	D	0.89917	1.0	D	0.87578	0.998	T	0.59215	-0.7496	10	0.87932	D	0	.	8.9162	0.35583	0.0:0.7158:0.0:0.2842	.	667	Q3MJ13	WDR72_HUMAN	F	667	ENSP00000379619:V667F;ENSP00000353699:V667F	ENSP00000353699:V667F	V	-	1	0	WDR72	51695696	0.285000	0.24296	0.421000	0.26609	0.471000	0.32888	1.148000	0.31614	0.417000	0.25871	0.313000	0.20887	GTC		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	36	1	0	8.58068e-18	1	9.45481e-18	24	36				
MFF	56947	broad.mit.edu	37	2	228205038	228205038	+	Missense_Mutation	SNP	C	C	T	rs548889465		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228205038C>T	ENST00000353339.3	+	6	901	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	MFF_ENST00000409565.1_Missense_Mutation_p.R128W|MFF_ENST00000304593.9_Missense_Mutation_p.R128W|MFF_ENST00000354503.6_Missense_Mutation_p.R128W|MFF_ENST00000337110.7_Missense_Mutation_p.R128W|MFF_ENST00000409616.1_Missense_Mutation_p.R128W|MFF_ENST00000349901.7_Missense_Mutation_p.R128W|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.R154W	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	154					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAAAAGAGAGCGGTCTATGAG	0.408																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(460-462)Cgg>Tgg		mitochondrial fission factor							87.0	81.0	83.0					2																	228205038		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228205038C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.460C>T	2.37:g.228205038C>T	ENSP00000302037:p.Arg154Trp					MFF_ENST00000392059.1_Missense_Mutation_p.R154W|MFF_ENST00000354503.6_Missense_Mutation_p.R128W|MFF_ENST00000409616.1_Missense_Mutation_p.R128W|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.R128W|MFF_ENST00000304593.9_Missense_Mutation_p.R128W|MFF_ENST00000409565.1_Missense_Mutation_p.R128W|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.R128W	p.R154W	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			6	901	+			154					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.460C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578705	0.86645	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.36520	1.25;1.25	5.95	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.61703	1.905	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.995;0.999;0.997;0.99;1.0;1.0	P;P;P;P;D;D	0.78314	0.707;0.857;0.533;0.536;0.99;0.991	T	0.60100	-0.7329	10	0.72032	D	0.01	-12.1131	17.8995	0.88899	0.1296:0.8703:0.0:0.0	.	128;128;128;128;128;154	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	W	128;154;128;128;128;128;128;128;154;11	ENSP00000302037:R154W;ENSP00000375912:R154W	ENSP00000304898:R128W	R	+	1	2	MFF	227913282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.764000	0.62264	2.824000	0.97209	0.655000	0.94253	CGG		0.408	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		7	14	0	0	0	1	0	7	14				
SHROOM2	357	broad.mit.edu	37	X	9912932	9912932	+	Silent	SNP	C	C	T	rs374782377		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:9912932C>T	ENST00000380913.3	+	9	4653	c.4563C>T	c.(4561-4563)gaC>gaT	p.D1521D	SHROOM2_ENST00000418909.2_Silent_p.D356D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1521	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTTGGACGACGGCGCTTCTC	0.557													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13729	0.0		0.0	False		,,,				2504	0.0					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4561-4563)gaC>gaT		shroom family member 2				1,3834		0,1,1631,571	35.0	31.0	32.0		4563	1.0	0.0	X		32	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		1521/1617	9912932	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9912932C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4563C>T	X.37:g.9912932C>T						SHROOM2_ENST00000418909.2_Silent_p.D356D	p.D1521D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			9	4653	+		Hepatocellular(5;0.000888)	1521			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4563C>T	CCDS14135.1																																																																																				0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	1	0	0	0	1	0	3	1				
MTMR11	10903	broad.mit.edu	37	1	149902422	149902422	+	Silent	SNP	T	T	C	rs587641808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149902422T>C	ENST00000439741.2	-	15	1732	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	MTMR11_ENST00000369140.3_Silent_p.Q422Q|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	494	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGTAGACTTGTGTATAGG	0.453																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1480-1482)caA>caG		myotubularin related protein 11							109.0	116.0	114.0					1																	149902422		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149902422T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1482A>G	1.37:g.149902422T>C						MTMR11_ENST00000369140.3_Silent_p.Q422Q|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	p.Q494Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		15	1732	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		494			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1482A>G	CCDS53360.1																																																																																				0.453	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		31	51	0	0	0	1	0	31	51				
PPFIBP2	8495	broad.mit.edu	37	11	7674414	7674414	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7674414C>A	ENST00000299492.4	+	24	2984	c.2596C>A	c.(2596-2598)Ctg>Atg	p.L866M	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L723M|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L754M|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L708M|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	866					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGCCCCTGAACTGGATGGGCT	0.572																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2596-2598)Ctg>Atg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							101.0	80.0	87.0					11																	7674414		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7674414C>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2596C>A	11.37:g.7674414C>A	ENSP00000299492:p.Leu866Met					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L723M|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L708M|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L754M	p.L866M	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	24	2984	+			866					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2596C>A	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.09|18.09	3.546589|3.546589	0.65198|0.65198	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000528883;ENST00000530181|ENST00000534552	T;T;T;T|.	0.35973|.	1.71;1.3;1.71;1.28|.	6.03|6.03	3.12|3.12	0.35913|0.35913	.|.	0.549006|.	0.17073|.	N|.	0.188090|.	T|T	0.52948|0.52948	0.1766|0.1766	M|M	0.74881|0.74881	2.28|2.28	0.28687|0.28687	N|N	0.904814|0.904814	P;P;P;P;P|.	0.46706|.	0.71;0.808;0.747;0.883;0.684|.	B;B;P;P;B|.	0.45971|.	0.264;0.347;0.499;0.499;0.352|.	T|T	0.50074|0.50074	-0.8870|-0.8870	10|5	0.72032|.	D|.	0.01|.	-0.2363|-0.2363	6.2187|6.2187	0.20669|0.20669	0.1327:0.6471:0.1471:0.0731|0.1327:0.6471:0.1471:0.0731	.|.	754;754;708;723;866|.	E9PK77;B7Z433;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;LIPB2_HUMAN|.	M|N	866;207;708;754;723|97	ENSP00000299492:L866M;ENSP00000436498:L708M;ENSP00000435469:L754M;ENSP00000437321:L723M|.	ENSP00000299492:L866M|.	L|T	+|+	1|2	2|0	PPFIBP2|PPFIBP2	7630990|7630990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.123000|1.123000	0.31308|0.31308	0.408000|0.408000	0.25621|0.25621	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		20	33	1	0	1.01871e-10	1	1.09092e-10	20	33				
KIF2C	11004	broad.mit.edu	37	1	45232618	45232618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45232618C>T	ENST00000372224.4	+	20	2205	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	KIF2C_ENST00000372218.4_Nonsense_Mutation_p.R657*|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372217.1_Nonsense_Mutation_p.R644*|KIF2C_ENST00000372222.3_Nonsense_Mutation_p.R585*	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	698				R -> P (in Ref. 8; AAH08764). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTCAGCCCTGCGAGGTGGGTG	0.602																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1930-1932)Cga>Tga		kinesin family member 2C							86.0	88.0	87.0					1																	45232618		2203	4300	6503	SO:0001587	stop_gained	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232618C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2092C>T	1.37:g.45232618C>T	ENSP00000361298:p.Arg698*					KIF2C_ENST00000372222.3_Nonsense_Mutation_p.R585*|KIF2C_ENST00000372224.4_Nonsense_Mutation_p.R698*|KIF2C_ENST00000372218.4_Nonsense_Mutation_p.R657*|RP11-269F19.2_ENST00000428791.1_RNA	p.R644*			Q99661	KIF2C_HUMAN			19	2281	+	Acute lymphoblastic leukemia(166;0.155)		698					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Nonsense_Mutation	SNP	ENST00000372224.4	37	c.1930C>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904159	0.72754	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	.	.	.	5.05	5.05	0.67936	.	0.775342	0.11946	N	0.514174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0221	0.36206	0.2042:0.6594:0.1364:0.0	.	.	.	.	X	698;657;585;644	.	ENSP00000361291:R644X	R	+	1	2	KIF2C	45005205	0.277000	0.24220	0.873000	0.34254	0.105000	0.19272	0.733000	0.26087	2.508000	0.84585	0.462000	0.41574	CGA		0.602	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		32	57	0	0	0	1	0	32	57				
COL14A1	7373	broad.mit.edu	37	8	121292281	121292281	+	Missense_Mutation	SNP	G	G	A	rs115901568	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121292281G>A	ENST00000297848.3	+	29	3859	c.3589G>A	c.(3589-3591)Gcc>Acc	p.A1197T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1197T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1102T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGACTTTGACGCCTTTAAGAA	0.423													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17692	0.0		0.0	False		,,,				2504	0.0					ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3589-3591)Gcc>Acc		collagen, type XIV, alpha 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	136.0	123.0	127.0		3589	5.4	1.0	8	dbSNP_132	127	9,8591	7.1+/-27.0	0,9,4291	yes	missense	COL14A1	NM_021110.1	58	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	probably-damaging	1197/1797	121292281	10,12996	2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121292281G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3589G>A	8.37:g.121292281G>A	ENSP00000297848:p.Ala1197Thr					COL14A1_ENST00000309791.4_Missense_Mutation_p.A1197T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1102T	p.A1197T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		29	3859	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1197			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3589G>A	CCDS34938.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	29.6	5.023255	0.93462	2.27E-4	0.001047	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.78595	-1.19;-1.19;-1.19	5.42	5.42	0.78866	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85537	0.1213	10	0.46703	T	0.11	.	19.1913	0.93667	0.0:0.0:1.0:0.0	.	1197	Q05707	COEA1_HUMAN	T	1197;1197;1102	ENSP00000311809:A1197T;ENSP00000297848:A1197T;ENSP00000247781:A1102T	ENSP00000247781:A1102T	A	+	1	0	COL14A1	121361462	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	9.837000	0.99465	2.539000	0.85634	0.655000	0.94253	GCC		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		29	53	0	0	0	1	0	29	53				
PLOD1	5351	broad.mit.edu	37	1	12017931	12017931	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12017931G>A	ENST00000196061.4	+	8	801	c.774G>A	c.(772-774)ccG>ccA	p.P258P	PLOD1_ENST00000376369.3_Silent_p.P305P|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	258					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	ACTACATCCCGCGCTTCTGGA	0.627																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(772-774)ccG>ccA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						131.0	122.0	125.0					1																	12017931		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017931G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.774G>A	1.37:g.12017931G>A						PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.P305P	p.P258P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	801	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	258					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.774G>A	CCDS142.1																																																																																				0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		41	66	0	0	0	1	0	41	66				
APBA1	320	broad.mit.edu	37	9	72047551	72047551	+	Silent	SNP	G	G	A	rs552347233		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72047551G>A	ENST00000265381.4	-	12	2565	c.2343C>T	c.(2341-2343)ggC>ggT	p.G781G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	781	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCACACGGACGCCTCCTCTCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19162	0.0		0.001	False		,,,				2504	0.0					ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2341-2343)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							76.0	65.0	69.0					9																	72047551		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72047551G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2343C>T	9.37:g.72047551G>A							p.G781G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			12	2565	-			781			PDZ 2.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.2343C>T	CCDS6630.1																																																																																				0.587	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		15	20	0	0	0	1	0	15	20				
PPARGC1B	133522	broad.mit.edu	37	5	149212721	149212721	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149212721C>T	ENST00000309241.5	+	5	1117	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A323V|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A298V|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A362V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	362					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TACCGTCTGGCCACGCCTGTT	0.617																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1084-1086)gCc>gTc		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							61.0	65.0	63.0					5																	149212721		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212721C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1085C>T	5.37:g.149212721C>T	ENSP00000312649:p.Ala362Val					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A298V|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A323V|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A362V	p.A362V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1117	+			362					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.1085C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034036	0.75504	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.11604	2.77;2.89;2.9;2.76	5.61	5.61	0.85477	.	0.148159	0.46442	D	0.000294	T	0.24044	0.0582	L	0.34521	1.04	0.32192	N	0.578978	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.971;0.997;0.982;0.936;0.984	T	0.03130	-1.1069	10	0.59425	D	0.04	-21.0223	16.1579	0.81677	0.0:0.8578:0.1422:0.0	.	341;341;323;362;362	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	V	323;362;362;298	ENSP00000353638:A323V;ENSP00000377855:A362V;ENSP00000312649:A362V;ENSP00000384403:A298V	ENSP00000312649:A362V	A	+	2	0	PPARGC1B	149192914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.249000	0.51437	2.636000	0.89361	0.655000	0.94253	GCC		0.617	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		21	24	0	0	0	1	0	21	24				
MEGF6	1953	broad.mit.edu	37	1	3417578	3417578	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3417578C>T	ENST00000356575.4	-	20	2753	c.2527G>A	c.(2527-2529)Gga>Aga	p.G843R	MEGF6_ENST00000294599.4_Missense_Mutation_p.G738R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	843	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGCAGTGTCCGGTGGCTGGG	0.637																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2527-2529)Gga>Aga		multiple EGF-like-domains 6							36.0	45.0	42.0					1																	3417578		2035	4201	6236	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3417578C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2527G>A	1.37:g.3417578C>T	ENSP00000348982:p.Gly843Arg					MEGF6_ENST00000294599.4_Missense_Mutation_p.G738R	p.G843R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	20	2753	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	843			EGF-like 14.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2527G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859723	0.51376	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.80123	-1.34;-1.34	4.98	4.98	0.66077	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	M	0.93283	3.4	0.46499	D	0.999077	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92968	0.6395	10	0.40728	T	0.16	-13.2566	18.2542	0.90014	0.0:1.0:0.0:0.0	.	843;738	O75095;O75095-2	MEGF6_HUMAN;.	R	738;843	ENSP00000294599:G738R;ENSP00000348982:G843R	ENSP00000294599:G738R	G	-	1	0	MEGF6	3407438	0.997000	0.39634	0.099000	0.21106	0.663000	0.39108	5.638000	0.67861	2.309000	0.77851	0.561000	0.74099	GGA		0.637	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		18	23	0	0	0	1	0	18	23				
C1RL	51279	broad.mit.edu	37	12	7254672	7254672	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7254672G>A	ENST00000266542.4	-	3	404	c.312C>T	c.(310-312)gtC>gtT	p.V104V	C1RL_ENST00000544702.1_Silent_p.V104V|C1RL_ENST00000545337.1_Silent_p.V104V|C1RL_ENST00000545280.1_Missense_Mutation_p.S28L	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	104	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATCCGAACCGACGAATGAGA	0.602																																						ENST00000545280.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(82-84)tCg>tTg		complement component 1, r subcomponent-like							87.0	90.0	89.0					12																	7254672		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254672G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.312C>T	12.37:g.7254672G>A						C1RL_ENST00000545337.1_Silent_p.V104V|C1RL_ENST00000544702.1_Silent_p.V104V|C1RL_ENST00000266542.4_Silent_p.V104V	p.S28L			Q9NZP8	C1RL_HUMAN			2	99	-			0					Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.83C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.489|6.489	0.458342|0.458342	0.12342|0.12342	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000545280	.|.	.|.	.|.	3.76|3.76	-3.11|-3.11	0.05299|0.05299	.|.	.|.	.|.	.|.	.|.	T|T	0.20861|0.20861	0.0502|0.0502	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28364|0.28364	-1.0046|-1.0046	4|4	.|.	.|.	.|.	.|.	4.233|4.233	0.10613|0.10613	0.5249:0.0:0.3172:0.1579|0.5249:0.0:0.3172:0.1579	.|.	.|.	.|.	.|.	W|L	4|28	.|.	.|.	R|S	-|-	1|2	2|0	C1RL|C1RL	7145948|7145948	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.173000|-0.173000	0.09854|0.09854	-0.634000|-0.634000	0.05538|0.05538	-1.244000|-1.244000	0.01528|0.01528	CGG|TCG		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		25	52	0	0	0	1	0	25	52				
KRT80	144501	broad.mit.edu	37	12	52567466	52567466	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52567466C>T	ENST00000394815.2	-	5	846	c.749G>A	c.(748-750)gGc>gAc	p.G250D	KRT80_ENST00000313234.5_Missense_Mutation_p.G250D	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	250	Linker 12.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTCCACGATGCCGCTCAGGTC	0.652																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(748-750)gGc>gAc		keratin 80							86.0	73.0	78.0					12																	52567466		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567466C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.749G>A	12.37:g.52567466C>T	ENSP00000378292:p.Gly250Asp					KRT80_ENST00000394815.2_Missense_Mutation_p.G250D	p.G250D	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	846	-			250			Linker 12.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.749G>A	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974667	0.74360	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	T;T	0.75260	-0.92;-0.92	4.23	4.23	0.50019	Filament (1);	0.194491	0.25570	N	0.029770	T	0.72732	0.3497	L	0.28694	0.88	0.38503	D	0.948286	P;P;D	0.56746	0.879;0.901;0.977	B;P;P	0.51016	0.408;0.599;0.656	T	0.79157	-0.1919	10	0.66056	D	0.02	.	17.1871	0.86869	0.0:1.0:0.0:0.0	.	250;250;285	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	D	250	ENSP00000369361:G250D;ENSP00000378292:G250D	ENSP00000369361:G250D	G	-	2	0	KRT80	50853733	0.985000	0.35326	1.000000	0.80357	0.968000	0.65278	2.450000	0.44943	2.375000	0.81037	0.561000	0.74099	GGC		0.652	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		20	44	0	0	0	1	0	20	44				
DCHS2	54798	broad.mit.edu	37	4	155278424	155278424	+	Missense_Mutation	SNP	G	G	C	rs372047184		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155278424G>C	ENST00000357232.4	-	6	746	c.747C>G	c.(745-747)gaC>gaG	p.D249E	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	249	Cadherin 2. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttacttccttgtctgctgaaa	0.438																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(745-747)gaC>gaG		dachsous cadherin-related 2							131.0	136.0	134.0					4																	155278424		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278424G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.747C>G	4.37:g.155278424G>C	ENSP00000349768:p.Asp249Glu					DCHS2_ENST00000339452.1_Intron	p.D249E	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	746	-	all_hematologic(180;0.208)	Renal(120;0.0854)	249			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.747C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.869136	0.00547	.	.	ENSG00000197410	ENST00000357232	T	0.52526	0.66	0.772	0.772	0.18510	Cadherin (1);	.	.	.	.	T	0.25568	0.0622	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16424	-1.0403	9	0.30078	T	0.28	.	4.7953	0.13269	0.0:0.0:1.0:0.0	.	249	Q6V1P9	PCD23_HUMAN	E	249	ENSP00000349768:D249E	ENSP00000349768:D249E	D	-	3	2	DCHS2	155497874	0.004000	0.15560	0.004000	0.12327	0.003000	0.03518	0.552000	0.23376	0.686000	0.31488	0.430000	0.28490	GAC		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		37	64	0	0	0	1	0	37	64				
OR10G2	26534	broad.mit.edu	37	14	22102883	22102883	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22102883T>C	ENST00000542433.1	-	1	213	c.116A>G	c.(115-117)tAc>tGc	p.Y39C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGAGGATGTAAATGATGAA	0.517																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(115-117)tAc>tGc		olfactory receptor, family 10, subfamily G, member 2							79.0	77.0	78.0					14																	22102883		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102883T>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.116A>G	14.37:g.22102883T>C	ENSP00000445383:p.Tyr39Cys						p.Y39C	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	213	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	39					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.116A>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909258	0.33721	.	.	ENSG00000255582	ENST00000542433	T	0.04706	3.57	3.79	3.79	0.43588	.	0.000000	0.39544	N	0.001334	T	0.24431	0.0592	M	0.92880	3.355	0.31243	N	0.694928	D	0.76494	0.999	D	0.65443	0.935	T	0.37244	-0.9714	10	0.72032	D	0.01	-9.9043	10.5228	0.44929	0.0:0.0:0.0:1.0	.	39	Q8NGC3	O10G2_HUMAN	C	39	ENSP00000445383:Y39C	ENSP00000445383:Y39C	Y	-	2	0	OR10G2	21172723	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	5.676000	0.68131	1.580000	0.49851	0.460000	0.39030	TAC		0.517	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			19	20	0	0	0	1	0	19	20				
RBM10	8241	broad.mit.edu	37	X	47030610	47030610	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47030610A>G	ENST00000377604.3	+	4	1127	c.385A>G	c.(385-387)Aac>Gac	p.N129D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						gaaggCCAGTAACATCGTCAT	0.652																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(385-387)Aac>Gac		RNA binding motif protein 10							21.0	20.0	20.0					X																	47030610		2202	4297	6499	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030610A>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.385A>G	X.37:g.47030610A>G	ENSP00000366829:p.Asn129Asp					RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR	p.N129D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1127	+			129			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.385A>G	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191890	0.38707	.	.	ENSG00000182872	ENST00000377604	T	0.44881	0.91	3.95	2.67	0.31697	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.216568	0.35525	N	0.003149	T	0.27832	0.0685	L	0.43554	1.36	0.80722	D	1	P;P;B;B	0.44429	0.615;0.835;0.304;0.18	B;B;B;B	0.39258	0.155;0.295;0.079;0.083	T	0.04041	-1.0982	10	0.15066	T	0.55	-21.132	6.9811	0.24704	0.7722:0.2278:0.0:0.0	.	194;129;129;1	Q7Z3D7;P98175-2;P98175;Q6PKH5	.;.;RBM10_HUMAN;.	D	129	ENSP00000366829:N129D	ENSP00000366829:N129D	N	+	1	0	RBM10	46915554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.536000	0.67180	1.390000	0.46547	0.409000	0.27619	AAC		0.652	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	1	0	0	0	1	0	7	1				
PLEC	5339	broad.mit.edu	37	8	145011407	145011407	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145011407G>A	ENST00000322810.4	-	4	848	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PLEC_ENST00000527096.1_Missense_Mutation_p.R117W|PLEC_ENST00000436759.2_Missense_Mutation_p.R117W|PLEC_ENST00000356346.3_Missense_Mutation_p.R76W|PLEC_ENST00000398774.2_Missense_Mutation_p.R58W|PLEC_ENST00000354958.2_Missense_Mutation_p.R68W|PLEC_ENST00000357649.2_Missense_Mutation_p.R94W|PLEC_ENST00000354589.3_Missense_Mutation_p.R90W|PLEC_ENST00000345136.3_Missense_Mutation_p.R90W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTCTCCCGGGGCTGTGGG	0.677																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(679-681)Cgg>Tgg		plectin							49.0	60.0	56.0					8																	145011407		2188	4292	6480	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145011407G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.679C>T	8.37:g.145011407G>A	ENSP00000323856:p.Arg227Trp					PLEC_ENST00000436759.2_Missense_Mutation_p.R117W|PLEC_ENST00000398774.2_Missense_Mutation_p.R58W|PLEC_ENST00000356346.3_Missense_Mutation_p.R76W|PLEC_ENST00000357649.2_Missense_Mutation_p.R94W|PLEC_ENST00000354589.3_Missense_Mutation_p.R90W|PLEC_ENST00000527096.1_Missense_Mutation_p.R117W|PLEC_ENST00000345136.3_Missense_Mutation_p.R90W|PLEC_ENST00000354958.2_Missense_Mutation_p.R68W	p.R227W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			4	848	-			227			Actin-binding.|CH 1.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.679C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855842	0.51376	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95788	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.81;-3.49;-3.49	5.72	5.72	0.89469	Calponin homology domain (5);	0.000000	0.64402	U	0.000017	D	0.97720	0.9252	M	0.80616	2.505	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D	0.98231	1.0483	10	0.87932	D	0	.	17.3701	0.87374	0.0:0.0:1.0:0.0	.	117;76;68;227;58;90;94;90	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	90;94;90;58;227;68;76;117;117;134;67;107	ENSP00000344848:R90W;ENSP00000350277:R94W;ENSP00000346602:R90W;ENSP00000381756:R58W;ENSP00000323856:R227W;ENSP00000347044:R68W;ENSP00000348702:R76W;ENSP00000388180:R117W;ENSP00000434583:R117W;ENSP00000437303:R134W;ENSP00000433557:R67W;ENSP00000436702:R107W	ENSP00000323856:R227W	R	-	1	2	PLEC	145083395	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.620000	0.54203	2.713000	0.92767	0.655000	0.94253	CGG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	17	0	0	0	1	0	10	17				
PCSK9	255738	broad.mit.edu	37	1	55521752	55521752	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55521752G>A	ENST00000302118.5	+	6	1176	c.886G>A	c.(886-888)Gtc>Atc	p.V296I	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.V96I	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	296	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACAGCCGCGTCCTCAACGC	0.677																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(886-888)Gtc>Atc		proprotein convertase subtilisin/kexin type 9							15.0	18.0	17.0					1																	55521752		2191	4294	6485	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55521752G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.886G>A	1.37:g.55521752G>A	ENSP00000303208:p.Val296Ile					PCSK9_ENST00000543384.1_Missense_Mutation_p.V96I|PCSK9_ENST00000490692.1_3'UTR	p.V296I	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			6	1176	+			296			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.886G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934715	0.34189	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.86562	-2.14;-2.14	3.88	1.01	0.19927	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.695090	0.03557	N	0.226490	T	0.74824	0.3767	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.60850	-0.7181	10	0.17369	T	0.5	-5.2683	6.0801	0.19936	0.7251:0.0:0.2749:0.0	.	296	Q8NBP7	PCSK9_HUMAN	I	296;96	ENSP00000303208:V296I;ENSP00000441859:V96I	ENSP00000303208:V296I	V	+	1	0	PCSK9	55294340	0.002000	0.14202	0.078000	0.20375	0.923000	0.55619	0.993000	0.29680	0.461000	0.27071	0.563000	0.77884	GTC		0.677	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		4	7	0	0	0	1	0	4	7				
QPCTL	54814	broad.mit.edu	37	19	46205061	46205061	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46205061C>T	ENST00000012049.5	+	6	1113	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	QPCTL_ENST00000366382.4_Missense_Mutation_p.R204C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	298					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCAGAGAAGCGTCTGCACCG	0.552																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(892-894)Cgt>Tgt		glutaminyl-peptide cyclotransferase-like							78.0	74.0	75.0					19																	46205061		2203	4300	6503	SO:0001583	missense	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46205061C>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.892C>T	19.37:g.46205061C>T	ENSP00000012049:p.Arg298Cys					QPCTL_ENST00000366382.4_Missense_Mutation_p.R204C	p.R298C	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	6	1113	+		Ovarian(192;0.051)|all_neural(266;0.112)	298					Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.892C>T	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	c	19.10	3.762578	0.69763	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.23552	1.9;1.9	5.96	5.96	0.96718	Peptidase M28 (1);	0.047424	0.85682	D	0.000000	T	0.63498	0.2516	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72937	-0.4140	10	0.87932	D	0	-24.5357	15.9192	0.79547	0.0:1.0:0.0:0.0	.	298	Q9NXS2	QPCTL_HUMAN	C	298;204	ENSP00000012049:R298C;ENSP00000387944:R204C	ENSP00000012049:R298C	R	+	1	0	QPCTL	50896901	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	1.713000	0.37951	2.834000	0.97654	0.556000	0.70494	CGT		0.552	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		30	61	0	0	0	1	0	30	61				
FAM160A2	84067	broad.mit.edu	37	11	6245335	6245335	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6245335C>T	ENST00000449352.2	-	3	545	c.282G>A	c.(280-282)ggG>ggA	p.G94G	FAM160A2_ENST00000265978.4_Silent_p.G94G|FAM160A2_ENST00000524416.1_Silent_p.G94G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	94					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCAGGGGCCCAGGGCCTG	0.627																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(280-282)ggG>ggA		family with sequence similarity 160, member A2							34.0	30.0	31.0					11																	6245335		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6245335C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.282G>A	11.37:g.6245335C>T						FAM160A2_ENST00000449352.2_Silent_p.G94G|FAM160A2_ENST00000524416.1_Silent_p.G94G	p.G94G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			3	640	-			94					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.282G>A	CCDS44530.1																																																																																				0.627	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		9	12	0	0	0	1	0	9	12				
NLRP8	126205	broad.mit.edu	37	19	56465875	56465875	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56465875C>T	ENST00000291971.3	+	3	522	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R151W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	151					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGTAAAATACGGCGGTATAA	0.408																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(451-453)Cgg>Tgg		NLR family, pyrin domain containing 8							81.0	82.0	82.0					19																	56465875		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56465875C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.451C>T	19.37:g.56465875C>T	ENSP00000291971:p.Arg151Trp					NLRP8_ENST00000590542.1_Missense_Mutation_p.R151W	p.R151W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	522	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	151					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.451C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.567	-0.088520	0.07097	.	.	ENSG00000179709	ENST00000291971	T	0.74421	-0.84	1.77	-3.53	0.04667	.	.	.	.	.	T	0.55737	0.1939	N	0.14661	0.345	0.09310	N	1	D;B	0.64830	0.994;0.004	P;B	0.50049	0.629;0.001	T	0.49409	-0.8943	9	0.46703	T	0.11	.	0.2525	0.00207	0.2049:0.2849:0.2028:0.3074	.	151;151	Q86W28-2;Q86W28	.;NALP8_HUMAN	W	151	ENSP00000291971:R151W	ENSP00000291971:R151W	R	+	1	2	NLRP8	61157687	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.877000	0.04197	-1.112000	0.02984	-1.499000	0.00960	CGG		0.408	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		37	35	0	0	0	1	0	37	35				
TTC24	164118	broad.mit.edu	37	1	156555582	156555582	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156555582T>C	ENST00000368237.3	+	8	1534	c.1534T>C	c.(1534-1536)Tgc>Cgc	p.C512R	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.C512R			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	512										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCACACGCCCTGCAGAGGGAC	0.522																																						ENST00000368236.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20						c.(1534-1536)Tgc>Cgc		tetratricopeptide repeat domain 24							111.0	113.0	112.0					1																	156555582		2129	4229	6358	SO:0001583	missense	164118						binding	g.chr1:156555582T>C		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1534T>C	1.37:g.156555582T>C	ENSP00000357220:p.Cys512Arg					TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.C512R	p.C512R	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN			9	1570	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		512					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.1534T>C	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	T	6.963	0.547649	0.13312	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.24151	1.87;1.87	2.39	-1.82	0.07857	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	P	0.40476	0.718	B	0.30646	0.118	T	0.34477	-0.9827	9	0.16896	T	0.51	.	2.3078	0.04178	0.4393:0.1471:0.0:0.4136	.	512	A2A3L6	TTC24_HUMAN	R	512	ENSP00000357219:C512R;ENSP00000357220:C512R	ENSP00000357219:C512R	C	+	1	0	TTC24	154822206	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.940000	0.01543	-0.443000	0.07180	0.379000	0.24179	TGC		0.522	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		18	25	0	0	0	1	0	18	25				
ACTR3B	57180	broad.mit.edu	37	7	152522194	152522194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:152522194G>A	ENST00000256001.8	+	9	1072	c.938G>A	c.(937-939)cGc>cAc	p.R313H	ACTR3B_ENST00000537264.1_Missense_Mutation_p.R225H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R225H|ACTR3B_ENST00000377776.3_Missense_Mutation_p.R313H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GATGTGCGGCGCCCGCTGTAT	0.413																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(937-939)cGc>cAc		ARP3 actin-related protein 3 homolog B (yeast)							85.0	79.0	81.0					7																	152522194		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152522194G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.938G>A	7.37:g.152522194G>A	ENSP00000256001:p.Arg313His					ACTR3B_ENST00000377776.3_Missense_Mutation_p.R313H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R225H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R225H	p.R313H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	9	1072	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	313					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.938G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869548	0.51588	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	3.85	2.97	0.34412	.	0.000000	0.56097	U	0.000026	T	0.43590	0.1254	H	0.96720	3.87	0.42311	D	0.992215	D;D	0.89917	1.0;1.0	D;D	0.75020	0.954;0.985	T	0.57596	-0.7784	10	0.87932	D	0	.	10.7066	0.45958	0.0954:0.0:0.9045:0.0	.	313;313	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	H	313;313;225;225	ENSP00000367007:R313H;ENSP00000256001:R313H;ENSP00000380452:R225H;ENSP00000446157:R225H	ENSP00000256001:R313H	R	+	2	0	ACTR3B	152153127	1.000000	0.71417	0.018000	0.16275	0.674000	0.39518	9.348000	0.97062	0.757000	0.33036	0.491000	0.48974	CGC		0.413	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		9	27	0	0	0	1	0	9	27				
MKL1	57591	broad.mit.edu	37	22	40827479	40827479	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40827479C>A	ENST00000355630.3	-	6	659	c.69G>T	c.(67-69)gaG>gaT	p.E23D	MKL1_ENST00000407029.1_Missense_Mutation_p.E23D|MKL1_ENST00000402630.1_Missense_Mutation_p.E23D|MKL1_ENST00000396617.3_Missense_Mutation_p.E23D|MKL1_ENST00000402042.1_Missense_Mutation_p.E23D	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	23	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGAGATAGTCCTCTGTCTACA	0.488			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(67-69)gaG>gaT		megakaryoblastic leukemia (translocation) 1							194.0	180.0	185.0					22																	40827479		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40827479C>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.69G>T	22.37:g.40827479C>A	ENSP00000347847:p.Glu23Asp					MKL1_ENST00000407029.1_Missense_Mutation_p.E23D|MKL1_ENST00000355630.3_Missense_Mutation_p.E23D|MKL1_ENST00000402630.1_Missense_Mutation_p.E23D|MKL1_ENST00000402042.1_Missense_Mutation_p.E23D	p.E23D			Q969V6	MKL1_HUMAN			6	659	-			23			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.69G>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519838	0.85495	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.4	2.33	0.28932	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.68952	2.095	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.78314	0.991;0.82;0.82	D	0.97575	1.0107	10	0.49607	T	0.09	-24.8479	9.4869	0.38935	0.0:0.7632:0.0:0.2368	.	23;23;23	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	D	23;23;23;23;23;50	ENSP00000347847:E23D;ENSP00000379861:E23D;ENSP00000385584:E23D;ENSP00000385835:E23D;ENSP00000385076:E23D;ENSP00000398478:E50D	ENSP00000347847:E23D	E	-	3	2	MKL1	39157425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.975000	0.40569	1.218000	0.43458	0.650000	0.86243	GAG		0.488	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		45	64	1	0	1.57945e-13	1	1.71745e-13	45	64				
COG7	91949	broad.mit.edu	37	16	23400346	23400346	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23400346G>A	ENST00000307149.5	-	17	2393	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	736					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTAGCGTCACGATGTGCTGGA	0.617																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2206-2208)atC>atT		component of oligomeric golgi complex 7							87.0	69.0	75.0					16																	23400346		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400346G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2208C>T	16.37:g.23400346G>A							p.I736I	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2393	-			736					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.2208C>T	CCDS10610.1																																																																																				0.617	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			14	23	0	0	0	1	0	14	23				
TRIM25	7706	broad.mit.edu	37	17	54969233	54969233	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54969233G>A	ENST00000316881.4	-	9	1770	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.A574V|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	574	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CACCCGCGTGGCCTTGGTGGA	0.572																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1720-1722)gCc>gTc		tripartite motif containing 25							73.0	63.0	66.0					17																	54969233		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969233G>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1721C>T	17.37:g.54969233G>A	ENSP00000323889:p.Ala574Val					TRIM25_ENST00000537230.1_Missense_Mutation_p.A574V	p.A574V	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1770	-	Breast(9;6.15e-08)		574			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1721C>T	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278381	0.95459	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.60548	0.18;0.18	4.83	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000032	T	0.53786	0.1818	N	0.17474	0.49	0.39088	D	0.961042	D	0.57899	0.981	P	0.60117	0.869	T	0.50583	-0.8811	10	0.16896	T	0.51	.	12.4056	0.55439	0.0819:0.0:0.9181:0.0	.	574	Q14258	TRI25_HUMAN	V	574	ENSP00000323889:A574V;ENSP00000445961:A574V	ENSP00000323889:A574V	A	-	2	0	TRIM25	52324232	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.285000	0.72658	2.222000	0.72286	0.511000	0.50034	GCC		0.572	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		10	13	0	0	0	1	0	10	13				
TMC6	11322	broad.mit.edu	37	17	76120763	76120763	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76120763C>T	ENST00000590602.1	-	8	892	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	TMC6_ENST00000392467.3_Missense_Mutation_p.V245M|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322914.3_Missense_Mutation_p.V245M|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.V18M|TMC6_ENST00000306591.7_Missense_Mutation_p.V245M|TMC6_ENST00000322933.4_De_novo_Start_InFrame			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	245					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAGGAGAGCACGCTGGAGCCG	0.662																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(733-735)Gtg>Atg		transmembrane channel-like 6							19.0	17.0	18.0					17																	76120763		2173	4235	6408	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120763C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.733G>A	17.37:g.76120763C>T	ENSP00000465261:p.Val245Met					TMC6_ENST00000306591.7_Missense_Mutation_p.V245M|TMC6_ENST00000322914.3_Missense_Mutation_p.V245M|TMC6_ENST00000589553.1_Missense_Mutation_p.V18M|TMC6_ENST00000392467.3_Missense_Mutation_p.V245M|TMC6_ENST00000322933.4_De_novo_Start_InFrame	p.V245M			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	892	-			245					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.733G>A	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967833	0.74131	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.67865	-0.29;-0.29;-0.29	3.28	3.28	0.37604	.	0.077275	0.50627	D	0.000107	T	0.82001	0.4942	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.997;0.981	D	0.83699	0.0181	10	0.87932	D	0	-27.0781	8.2404	0.31656	0.0:0.8774:0.0:0.1226	.	82;245;18;245	B4E003;Q7Z403-2;Q7Z403-4;Q7Z403	.;.;.;TMC6_HUMAN	M	245	ENSP00000313408:V245M;ENSP00000376260:V245M;ENSP00000306405:V245M	ENSP00000306405:V245M	V	-	1	0	TMC6	73632358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.957000	0.56730	1.661000	0.50771	0.462000	0.41574	GTG		0.662	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			4	9	0	0	0	1	0	4	9				
SAMD4B	55095	broad.mit.edu	37	19	39876748	39876748	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39876748G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.A422V|PAF1_ENST00000221266.7_Missense_Mutation_p.A399V|PAF1_ENST00000221265.3_Silent_p.S493S	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)			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)			TGTGGCTCCGGCTCCGCTGGC	0.627																																						ENST00000595564.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(1264-1266)gCc>gTc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							73.0	69.0	70.0					19																	39876748		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.chr19:39876748G>A		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.39876748G>A						PAF1_ENST00000221266.7_Missense_Mutation_p.A399V|PAF1_ENST00000221265.3_Silent_p.S493S	p.A422V	NM_001256826.1	NP_001243755.1	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)		13	1554	-	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)		0			Glu-rich.		A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1265C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	g	9.381	1.073039	0.20147	.	.	ENSG00000006712	ENST00000221266	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.80722	D	1	B	0.32829	0.386	B	0.36666	0.23	T	0.66221	-0.5978	7	0.87932	D	0	-20.1293	14.2595	0.66076	0.0:0.0:1.0:0.0	.	399	F8W9Q2	.	V	399	.	ENSP00000221266:A399V	A	-	2	0	PAF1	44568588	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	2.601000	0.46249	2.303000	0.77524	0.503000	0.49774	GCC		0.627	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		5	60	0	0	0	1	0	5	60				
DCAF4L1	285429	broad.mit.edu	37	4	41984637	41984637	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41984637G>A	ENST00000333141.5	+	1	925	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	276										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGACCTCTGTGCAAATCCTCC	0.527																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(826-828)gtG>gtA		DDB1 and CUL4 associated factor 4-like 1							119.0	108.0	112.0					4																	41984637		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984637G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.828G>A	4.37:g.41984637G>A							p.V276V	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	925	+			276					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.828G>A	CCDS33978.1																																																																																				0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		6	76	0	0	0	1	0	6	76				
ATF5	22809	broad.mit.edu	37	19	50434121	50434121	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50434121C>T	ENST00000423777.2	+	2	391	c.14C>T	c.(13-15)gCg>gTg	p.A5V	NUP62_ENST00000597723.1_5'Flank|NUP62_ENST00000413454.1_5'Flank|NUP62_ENST00000422090.2_5'Flank|IL4I1_ENST00000341114.3_5'Flank|ATF5_ENST00000600336.1_Missense_Mutation_p.A5V|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_5'Flank|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A5V|NUP62_ENST00000596217.1_5'Flank|NUP62_ENST00000352066.3_5'Flank|MIR4751_ENST00000578027.1_RNA|NUP62_ENST00000597029.1_5'Flank	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	5					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCACTCCTGGCGACCCTGGGG	0.667																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(13-15)gCg>gTg		activating transcription factor 5							20.0	20.0	20.0					19																	50434121		2201	4298	6499	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50434121C>T	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.14C>T	19.37:g.50434121C>T	ENSP00000396954:p.Ala5Val					ATF5_ENST00000600336.1_Missense_Mutation_p.A5V|CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A5V	p.A5V	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	2	391	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	5					B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.14C>T	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020596	0.93462	.	.	ENSG00000169136	ENST00000423777	T	0.27557	1.66	4.65	4.65	0.58169	.	0.000000	0.42420	D	0.000711	T	0.46190	0.1380	L	0.40543	1.245	0.47009	D	0.999289	D	0.76494	0.999	D	0.70716	0.97	T	0.46721	-0.9171	10	0.87932	D	0	-9.1546	15.3916	0.74747	0.0:1.0:0.0:0.0	.	5	Q9Y2D1	ATF5_HUMAN	V	5	ENSP00000396954:A5V	ENSP00000396954:A5V	A	+	2	0	ATF5	55125933	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.579000	0.60936	2.308000	0.77769	0.462000	0.41574	GCG		0.667	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			5	10	0	0	0	1	0	5	10				
ATP5G1	516	broad.mit.edu	37	17	46972665	46972665	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46972665G>A	ENST00000393366.2	+	4	368	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ATP5G1_ENST00000514808.1_Missense_Mutation_p.V89M|ATP5G1_ENST00000506855.1_Missense_Mutation_p.V63M|ATP5G1_ENST00000513781.1_3'UTR|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000355938.5_Missense_Mutation_p.V89M|ATP5G1_ENST00000503641.1_Missense_Mutation_p.V80M	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	89					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						CATTGGAACCGTGTTTGGCAG	0.552																																						ENST00000393366.2																			0				liver(1)|lung(1)	2						c.(265-267)Gtg>Atg		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)							146.0	136.0	140.0					17																	46972665		2203	4300	6503	SO:0001583	missense	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46972665G>A	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.265G>A	17.37:g.46972665G>A	ENSP00000377033:p.Val89Met					RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000506855.1_Missense_Mutation_p.V63M|ATP5G1_ENST00000503641.1_Missense_Mutation_p.V80M|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000514808.1_Missense_Mutation_p.V89M|ATP5G1_ENST00000355938.5_Missense_Mutation_p.V89M	p.V89M	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN			4	368	+			89						Missense_Mutation	SNP	ENST00000393366.2	37	c.265G>A	CCDS11539.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601256	0.87055	.	.	ENSG00000159199	ENST00000355938;ENST00000503641;ENST00000514808;ENST00000393366;ENST00000506855	T;T;T;T;T	0.51574	0.74;0.74;0.7;0.74;0.74	4.52	4.52	0.55395	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.77734	-0.2477	10	0.72032	D	0.01	-4.9652	17.0416	0.86491	0.0:0.0:1.0:0.0	.	89	P05496	AT5G1_HUMAN	M	89;80;89;89;63	ENSP00000348205:V89M;ENSP00000426094:V80M;ENSP00000422086:V89M;ENSP00000377033:V89M;ENSP00000422950:V63M	ENSP00000348205:V89M	V	+	1	0	ATP5G1	44327664	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	9.657000	0.98554	2.352000	0.79861	0.561000	0.74099	GTG		0.552	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		16	31	0	0	0	1	0	16	31				
MYH14	79784	broad.mit.edu	37	19	50792779	50792779	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50792779G>A	ENST00000596571.1	+	32	4716	c.4716G>A	c.(4714-4716)ctG>ctA	p.L1572L	MYH14_ENST00000440075.2_Silent_p.L1613L|MYH14_ENST00000262269.8_Silent_p.L1613L|MYH14_ENST00000425460.1_Silent_p.L1580L|MYH14_ENST00000601313.1_Silent_p.L1613L|MYH14_ENST00000376970.2_Silent_p.L1605L|MYH14_ENST00000598205.1_Silent_p.L1580L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1572					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGATGAGCTGACAGCGGCCG	0.607																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4837-4839)ctG>ctA		myosin, heavy chain 14, non-muscle							43.0	52.0	49.0					19																	50792779		2193	4290	6483	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792779G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4716G>A	19.37:g.50792779G>A						MYH14_ENST00000425460.1_Silent_p.L1580L|MYH14_ENST00000376970.2_Silent_p.L1605L|MYH14_ENST00000262269.8_Silent_p.L1613L|MYH14_ENST00000601313.1_Silent_p.L1613L|MYH14_ENST00000598205.1_Silent_p.L1580L|MYH14_ENST00000596571.1_Silent_p.L1572L	p.L1613L			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	35	4886	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1572					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.4839G>A	CCDS59411.1																																																																																				0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		8	16	0	0	0	1	0	8	16				
PTK7	5754	broad.mit.edu	37	6	43109739	43109739	+	Silent	SNP	C	C	T	rs369328885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43109739C>T	ENST00000230419.4	+	12	2060	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	PTK7_ENST00000352931.2_Silent_p.C613C|PTK7_ENST00000481273.1_Silent_p.C621C|PTK7_ENST00000345201.2_Silent_p.C573C|PTK7_ENST00000349241.2_Silent_p.C483C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	613	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TACTGCAGTGCGAGGCCCAGG	0.602																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1837-1839)tgC>tgT		protein tyrosine kinase 7		C	,,,	0,4406		0,0,2203	55.0	58.0	57.0		1839,1719,1449,1839	-4.1	1.0	6		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	613/1071,573/1031,483/941,613/1015	43109739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109739C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1839C>T	6.37:g.43109739C>T						PTK7_ENST00000352931.2_Silent_p.C613C|PTK7_ENST00000345201.2_Silent_p.C573C|PTK7_ENST00000349241.2_Silent_p.C483C|PTK7_ENST00000481273.1_Silent_p.C621C	p.C613C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		12	2060	+			613			Ig-like C2-type 7.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1839C>T	CCDS4884.1																																																																																				0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			19	19	0	0	0	1	0	19	19				
MLLT1	4298	broad.mit.edu	37	19	6270767	6270767	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6270767T>C	ENST00000252674.7	-	2	179	c.16A>G	c.(16-18)Acc>Gcc	p.T6A		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	6					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGACGGTGCACTGGAGG	0.612			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(16-18)Acc>Gcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							80.0	63.0	69.0					19																	6270767		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270767T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.16A>G	19.37:g.6270767T>C	ENSP00000252674:p.Thr6Ala		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.T6A	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	179	-			6					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.16A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889704	0.33348	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.109676	0.64402	D	0.000009	T	0.27384	0.0672	N	0.03154	-0.405	0.54753	D	0.999988	B	0.19935	0.04	B	0.24848	0.056	T	0.19516	-1.0303	9	0.05721	T	0.95	-15.2609	13.3955	0.60849	0.0:0.0:0.0:1.0	.	6	Q03111	ENL_HUMAN	A	6	.	ENSP00000252674:T6A	T	-	1	0	MLLT1	6221767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.356000	0.52269	2.051000	0.60960	0.459000	0.35465	ACC		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		6	15	0	0	0	1	0	6	15				
TRIM68	55128	broad.mit.edu	37	11	4622021	4622021	+	Missense_Mutation	SNP	G	G	A	rs373028055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4622021G>A	ENST00000300747.5	-	7	1232	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACGATGAGACGGGAGTAAGCA	0.493																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(943-945)Cgt>Tgt		tripartite motif containing 68		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	76.0	71.0	72.0		943	1.4	0.9	11		72	0,8596		0,0,4298	no	missense	TRIM68	NM_018073.5	180	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	315/486	4622021	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4622021G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.943C>T	11.37:g.4622021G>A	ENSP00000300747:p.Arg315Cys						p.R315C	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1232	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	315			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.943C>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589269	0.46214	2.27E-4	0.0	ENSG00000167333	ENST00000300747;ENST00000544055;ENST00000526337	T;T	0.04706	3.57;3.57	5.52	1.35	0.21983	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.517604	0.18114	N	0.151264	T	0.01905	0.0060	N	0.11064	0.09	0.21897	N	0.999486	P	0.38395	0.629	B	0.30179	0.112	T	0.45977	-0.9224	10	0.38643	T	0.18	.	3.2848	0.06927	0.2681:0.0:0.4527:0.2791	.	315	Q6AZZ1	TRI68_HUMAN	C	315;36;92	ENSP00000300747:R315C;ENSP00000434681:R92C	ENSP00000300747:R315C	R	-	1	0	TRIM68	4578597	0.000000	0.05858	0.944000	0.38274	0.618000	0.37518	-0.068000	0.11561	0.815000	0.34398	0.561000	0.74099	CGT		0.493	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		18	19	0	0	0	1	0	18	19				
FAM178A	55719	broad.mit.edu	37	10	102709874	102709874	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102709874T>C	ENST00000238961.4	+	16	3704	c.3162T>C	c.(3160-3162)tcT>tcC	p.S1054S	FAM178A_ENST00000370269.3_Silent_p.S1054S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1054						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TGAAGCCTTCTGATTTGTTAA	0.358																																						ENST00000238961.3																			0											c.(3160-3162)tcT>tcC		family with sequence similarity 178, member A							139.0	134.0	136.0					10																	102709874		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:102709874T>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3162T>C	10.37:g.102709874T>C						FAM178A_ENST00000370269.3_Silent_p.S1054S	p.S1054S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			16	3310	+			1054					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.3162T>C	CCDS7500.1																																																																																				0.358	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			56	68	0	0	0	1	0	56	68				
OR10G8	219869	broad.mit.edu	37	11	123900355	123900355	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123900355C>T	ENST00000431524.1	+	1	59	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTACTGACAGCGTTCATCCTC	0.542																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(25-27)gCg>gTg		olfactory receptor, family 10, subfamily G, member 8							171.0	160.0	164.0					11																	123900355		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900355C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.26C>T	11.37:g.123900355C>T	ENSP00000389072:p.Ala9Val						p.A9V	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	59	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	9					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.26C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169881	0.21621	.	.	ENSG00000234560	ENST00000431524	T	0.01099	5.34	2.95	-0.058	0.13799	.	1.245330	0.05634	N	0.582270	T	0.00724	0.0024	N	0.03948	-0.315	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47787	-0.9090	10	0.66056	D	0.02	.	2.6953	0.05133	0.3162:0.3192:0.0:0.3646	.	9	Q8NGN5	O10G8_HUMAN	V	9	ENSP00000389072:A9V	ENSP00000389072:A9V	A	+	2	0	OR10G8	123405565	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	0.116000	0.18110	-0.966000	0.02617	GCG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		33	58	0	0	0	1	0	33	58				
DOCK10	55619	broad.mit.edu	37	2	225796306	225796306	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225796306G>T	ENST00000258390.7	-	2	270	c.203C>A	c.(202-204)cCt>cAt	p.P68H	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.P62H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	68					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCTTGAAGAGGATCATTCCG	0.418																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(184-186)cCt>cAt		dedicator of cytokinesis 10							100.0	100.0	100.0					2																	225796306		1863	4107	5970	SO:0001583	missense	55619						GTP binding	g.chr2:225796306G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.203C>A	2.37:g.225796306G>T	ENSP00000258390:p.Pro68His					DOCK10_ENST00000258390.7_Missense_Mutation_p.P68H|DOCK10_ENST00000474102.1_5'UTR	p.P62H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	2	298	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	68					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.185C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287828	0.80803	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.50001	0.76;0.76	5.59	5.59	0.84812	.	0.104184	0.64402	D	0.000003	T	0.66954	0.2842	M	0.78049	2.395	0.29801	N	0.832471	P;D;D	0.69078	0.942;0.997;0.973	P;D;P	0.64144	0.757;0.922;0.815	T	0.68277	-0.5451	10	0.72032	D	0.01	.	14.2002	0.65699	0.0738:0.0:0.9262:0.0	.	68;68;62	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	H	62;68	ENSP00000386694:P62H;ENSP00000258390:P68H	ENSP00000258390:P68H	P	-	2	0	DOCK10	225504550	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	3.460000	0.53028	2.797000	0.96272	0.563000	0.77884	CCT		0.418	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	18	1	0	3.59834e-05	1	3.7043e-05	6	18				
SPAG5	10615	broad.mit.edu	37	17	26912639	26912639	+	Silent	SNP	G	G	A	rs575160998	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26912639G>A	ENST00000321765.5	-	8	2105	c.1773C>T	c.(1771-1773)caC>caT	p.H591H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	591	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCTGGCTGGCGTGTGCACAGA	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		21192	0.0		0.0	False		,,,				2504	0.002					ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)caC>caT		sperm associated antigen 5							131.0	126.0	128.0					17																	26912639		2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912639G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1773C>T	17.37:g.26912639G>A							p.H591H	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			8	2105	-	Lung NSC(42;0.00431)		591					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.1773C>T	CCDS32594.1																																																																																				0.542	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		63	108	0	0	0	1	0	63	108				
STAMBP	10617	broad.mit.edu	37	2	74086401	74086401	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74086401G>A	ENST00000394070.2	+	8	1529	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Silent_p.A342A|STAMBP_ENST00000409707.1_Silent_p.A342A|STAMBP_ENST00000339566.3_Silent_p.A342A	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	342	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CACAGACCGCGTTTCTCTCCA	0.493																																						ENST00000394070.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(1024-1026)gcG>gcA		STAM binding protein							326.0	307.0	314.0					2																	74086401		2203	4300	6503	SO:0001819	synonymous_variant	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74086401G>A	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1026G>A	2.37:g.74086401G>A						STAMBP_ENST00000339566.3_Silent_p.A342A|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Silent_p.A342A|STAMBP_ENST00000409707.1_Silent_p.A342A	p.A342A	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			8	1529	+			342			MPN.		B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	c.1026G>A	CCDS1929.1																																																																																				0.493	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		93	122	0	0	0	1	0	93	122				
SPI1	6688	broad.mit.edu	37	11	47376808	47376808	+	Silent	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47376808G>C	ENST00000378538.3	-	5	1005	c.783C>G	c.(781-783)ggC>ggG	p.G261G	MYBPC3_ENST00000399249.2_5'Flank|SPI1_ENST00000227163.4_Silent_p.G262G|SPI1_ENST00000533030.1_3'UTR|MYBPC3_ENST00000545968.1_5'Flank|MYBPC3_ENST00000256993.4_5'Flank	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	261					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GCTCGGCCAGGCCCCCGCGGC	0.736																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(781-783)ggC>ggG		spleen focus forming virus (SFFV) proviral integration oncogene							25.0	22.0	23.0					11																	47376808		2169	4250	6419	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47376808G>C	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.783C>G	11.37:g.47376808G>C						SPI1_ENST00000227163.4_Silent_p.G262G|SPI1_ENST00000533030.1_3'UTR	p.G261G	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	5	1005	-			261						Silent	SNP	ENST00000378538.3	37	c.783C>G	CCDS7933.2																																																																																				0.736	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		2	3	0	0	0	1	0	2	3				
TMPRSS11F	389208	broad.mit.edu	37	4	68995533	68995533	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68995533C>T	ENST00000356291.2	-	1	65	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	2						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTTACGCGTACATCATGAACC	0.463																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(4-6)atG>atA		transmembrane protease, serine 11F							130.0	110.0	117.0					4																	68995533		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68995533C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.6G>A	4.37:g.68995533C>T	ENSP00000348639:p.Met2Ile						p.M2I	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			1	65	-			2					A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.6G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028723	0.35797	.	.	ENSG00000198092	ENST00000356291	D	0.87491	-2.26	5.24	5.24	0.73138	.	0.862762	0.10297	N	0.691606	D	0.85991	0.5826	N	0.08118	0	0.35943	D	0.83336	P	0.45126	0.851	P	0.58391	0.838	D	0.86056	0.1529	10	0.62326	D	0.03	.	14.2005	0.65699	0.0:1.0:0.0:0.0	.	2	Q6ZWK6	TM11F_HUMAN	I	2	ENSP00000348639:M2I	ENSP00000348639:M2I	M	-	3	0	TMPRSS11F	68678128	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.221000	0.51215	2.727000	0.93392	0.650000	0.86243	ATG		0.463	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		9	28	0	0	0	1	0	9	28				
KRT39	390792	broad.mit.edu	37	17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1189-1191)cGc>cAc		keratin 39							122.0	108.0	113.0					17																	39116560		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39116560C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1190G>A	17.37:g.39116560C>T	ENSP00000347823:p.Arg397His					AC004231.2_ENST00000418393.1_RNA	p.R397H	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			6	1225	-		Breast(137;0.00043)|Ovarian(249;0.15)	397			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1190G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135359	0.77662	.	.	ENSG00000196859	ENST00000355612	D	0.94687	-3.49	5.7	2.6	0.31112	Filament (1);Intermediate filament protein, conserved site (1);	0.165190	0.29335	N	0.012458	D	0.94775	0.8313	M	0.87758	2.905	0.30145	N	0.803619	P	0.45569	0.861	P	0.44696	0.458	D	0.92211	0.5776	10	0.66056	D	0.02	.	11.2334	0.48925	0.0:0.7981:0.0:0.2019	.	397	Q6A163	K1C39_HUMAN	H	397	ENSP00000347823:R397H	ENSP00000347823:R397H	R	-	2	0	KRT39	36370086	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	2.483000	0.45233	0.761000	0.33130	0.655000	0.94253	CGC		0.478	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		18	126	0	0	0	1	0	18	126				
HOXB3	3213	broad.mit.edu	37	17	46628442	46628442	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628442C>A	ENST00000470495.1	-	2	1997	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	HOXB3_ENST00000311626.4_Missense_Mutation_p.G184W|HOXB3_ENST00000489475.1_Missense_Mutation_p.G111W|HOXB3_ENST00000476342.1_Missense_Mutation_p.G184W|HOXB3_ENST00000472863.1_Missense_Mutation_p.G111W|HOXB3_ENST00000490677.1_Missense_Mutation_p.G50W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G52W|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G52W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G184W			P14651	HXB3_HUMAN	homeobox B3	184					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCCGCCGACCCCGGGGGGCTC	0.756																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(550-552)Ggg>Tgg		homeobox B3							21.0	24.0	23.0					17																	46628442		2197	4291	6488	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628442C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.550G>T	17.37:g.46628442C>A	ENSP00000417207:p.Gly184Trp					HOXB3_ENST00000490677.1_Missense_Mutation_p.G50W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G184W|HOXB3_ENST00000311626.4_Missense_Mutation_p.G184W|HOXB3_ENST00000476342.1_Missense_Mutation_p.G184W|HOXB3_ENST00000489475.1_Missense_Mutation_p.G111W|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G52W|HOXB3_ENST00000472863.1_Missense_Mutation_p.G111W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G52W	p.G184W			P14651	HXB3_HUMAN			2	1997	-			184					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.550G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191184	0.78902	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.98493	-1.51;-4.96;-1.51;-1.51;-1.51;-4.96;-4.96;-4.96;-1.51	4.09	4.09	0.47781	Homeodomain-related (1);	0.177233	0.49305	D	0.000160	D	0.98798	0.9595	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99751	1.1018	10	0.87932	D	0	.	16.8626	0.86021	0.0:1.0:0.0:0.0	.	184	P14651	HXB3_HUMAN	W	184;111;184;184;50;52;52;111;184	ENSP00000417207:G184W;ENSP00000419676:G111W;ENSP00000308252:G184W;ENSP00000420595:G184W;ENSP00000449977:G50W;ENSP00000418035:G52W;ENSP00000438747:G52W;ENSP00000418729:G111W;ENSP00000418892:G184W	ENSP00000308252:G184W	G	-	1	0	HOXB3	43983441	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	5.222000	0.65277	2.277000	0.76020	0.655000	0.94253	GGG		0.756	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			12	54	1	0	7.03913e-09	1	7.44699e-09	12	54				
ZNF777	27153	broad.mit.edu	37	7	149129128	149129128	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149129128C>T	ENST00000247930.4	-	6	2558	c.2235G>A	c.(2233-2235)tcG>tcA	p.S745S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCTCGCGCGAGTGCACGC	0.672																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(2233-2235)tcG>tcA		zinc finger protein 777							43.0	51.0	48.0					7																	149129128		2203	4299	6502	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129128C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2235G>A	7.37:g.149129128C>T							p.S745S	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2558	-	Melanoma(164;0.165)		745					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.2235G>A	CCDS43675.1																																																																																				0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		31	42	0	0	0	1	0	31	42				
UHRF1BP1	54887	broad.mit.edu	37	6	34824188	34824188	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:34824188T>C	ENST00000192788.5	+	10	1462		c.e10+2		UHRF1BP1_ENST00000452449.2_Splice_Site	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1								histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAAAGCAGGTGGGTTATGAG	0.453																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.e10+2		UHRF1 binding protein 1							87.0	88.0	88.0					6																	34824188		1881	4117	5998	SO:0001630	splice_region_variant	54887							g.chr6:34824188T>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1291+2T>C	6.37:g.34824188T>C						UHRF1BP1_ENST00000452449.2_Splice_Site		NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1462	+								Q9NXE0	Splice_Site	SNP	ENST00000192788.5	37		CCDS43455.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275982	0.40294	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.88	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1928	0.37209	0.0:0.1428:0.0:0.8572	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF1BP1	34932166	0.993000	0.37304	0.855000	0.33649	0.414000	0.31173	2.299000	0.43611	0.464000	0.27142	0.482000	0.46254	.		0.453	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	Intron	20	29	0	0	0	1	0	20	29				
NFKBIB	4793	broad.mit.edu	37	19	39399383	39399383	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39399383G>A	ENST00000313582.5	+	6	1016	c.982G>A	c.(982-984)Gac>Aac	p.D328N	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	328					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGAATACGACGACATTGTGGT	0.587																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000313582.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(982-984)Gac>Aac		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							81.0	86.0	85.0					19																	39399383		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39399383G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.982G>A	19.37:g.39399383G>A	ENSP00000312988:p.Asp328Asn					NFKBIB_ENST00000392079.3_3'UTR	p.D328N	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1016	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		328					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.982G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631094	0.87660	.	.	ENSG00000104825	ENST00000313582	T	0.57107	0.42	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000088	T	0.55970	0.1954	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.47407	-0.9120	10	0.18710	T	0.47	-10.5432	13.836	0.63410	0.0:0.0:1.0:0.0	.	328	Q15653	IKBB_HUMAN	N	328	ENSP00000312988:D328N	ENSP00000312988:D328N	D	+	1	0	NFKBIB	44091223	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	4.873000	0.63057	2.630000	0.89119	0.655000	0.94253	GAC		0.587	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		11	28	0	0	0	1	0	11	28				
ZSCAN21	7589	broad.mit.edu	37	7	99654769	99654769	+	Missense_Mutation	SNP	G	G	A	rs201880150		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99654769G>A	ENST00000292450.4	+	2	304	c.140G>A	c.(139-141)cGc>cAc	p.R47H	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R47H|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R47H	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	47	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCCGCCAGCGCTTCAGGCAG	0.597																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(139-141)cGc>cAc		zinc finger and SCAN domain containing 21							95.0	96.0	95.0					7																	99654769		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654769G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.140G>A	7.37:g.99654769G>A	ENSP00000292450:p.Arg47His					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R47H|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R47H|ZSCAN21_ENST00000477297.1_3'UTR	p.R47H	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	304	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		47			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.140G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977466	0.74360	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	4.91	4.91	0.64330	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.40144	N	0.001161	T	0.13670	0.0331	L	0.50333	1.59	0.39636	D	0.970254	D;D	0.65815	0.995;0.983	P;P	0.60886	0.88;0.787	T	0.00235	-1.1892	10	0.56958	D	0.05	.	13.7845	0.63102	0.0:0.0:1.0:0.0	.	47;47	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	H	47	ENSP00000441212:R47H;ENSP00000292450:R47H;ENSP00000390960:R47H;ENSP00000404207:R47H	ENSP00000292450:R47H	R	+	2	0	ZSCAN21	99492705	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.584000	0.46102	2.721000	0.93114	0.655000	0.94253	CGC		0.597	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		34	52	0	0	0	1	0	34	52				
PUS10	150962	broad.mit.edu	37	2	61175289	61175289	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61175289C>T	ENST00000316752.6	-	16	1601	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	PUS10_ENST00000407787.1_Missense_Mutation_p.R447H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	447	RNA binding thumb loop. {ECO:0000255}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GTGAAGGACGCGCAAAGGTGT	0.527																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(1339-1341)cGc>cAc		pseudouridylate synthase 10							167.0	166.0	166.0					2																	61175289		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61175289C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1340G>A	2.37:g.61175289C>T	ENSP00000326003:p.Arg447His					PUS10_ENST00000407787.1_Missense_Mutation_p.R447H	p.R447H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		16	1601	-			447			RNA binding thumb loop (Potential).		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.1340G>A	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445446	0.96187	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.89270	-2.49;-2.49	6.16	6.16	0.99307	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96525	0.9388	10	0.87932	D	0	-1.0415	20.8598	0.99761	0.0:1.0:0.0:0.0	.	447;447	A8K6R4;Q3MIT2	.;PUS10_HUMAN	H	447	ENSP00000326003:R447H;ENSP00000386074:R447H	ENSP00000326003:R447H	R	-	2	0	PUS10	61028793	1.000000	0.71417	0.954000	0.39281	0.814000	0.46013	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGC		0.527	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		19	50	0	0	0	1	0	19	50				
SLC6A4	6532	broad.mit.edu	37	17	28530244	28530244	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28530244G>A	ENST00000401766.2	-	13	2276	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	SLC6A4_ENST00000261707.3_Silent_p.C588C|RP11-354P11.4_ENST00000581633.1_RNA			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	588					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATGTGGGGATGCAAATGAAAG	0.398																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1762-1764)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						181.0	175.0	177.0					17																	28530244		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28530244G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1764C>T	17.37:g.28530244G>A						SLC6A4_ENST00000261707.3_Silent_p.C588C	p.C588C			P31645	SC6A4_HUMAN			13	2276	-			588					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.1764C>T	CCDS11256.1																																																																																				0.398	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		22	79	0	0	0	1	0	22	79				
ZC3HAV1	56829	broad.mit.edu	37	7	138732578	138732578	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138732578G>A	ENST00000242351.5	-	13	2787	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.A946V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	824	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGAATAGATGGCATCTTTTGC	0.318																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2470-2472)gCc>gTc		zinc finger CCCH-type, antiviral 1							75.0	78.0	77.0					7																	138732578		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138732578G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2471C>T	7.37:g.138732578G>A	ENSP00000242351:p.Ala824Val					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.A946V	p.A824V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			13	2787	-			824			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.2471C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512280	0.85389	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.15139	2.45;2.45	5.23	4.34	0.51931	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.260027	0.27429	N	0.019406	T	0.43942	0.1270	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.52177	-0.8610	10	0.87932	D	0	.	13.5062	0.61485	0.0:0.1578:0.8422:0.0	.	824	Q7Z2W4	ZCCHV_HUMAN	V	824;946	ENSP00000242351:A824V;ENSP00000418385:A946V	ENSP00000242351:A824V	A	-	2	0	ZC3HAV1	138383118	1.000000	0.71417	0.493000	0.27502	0.980000	0.70556	8.178000	0.89690	1.404000	0.46819	0.555000	0.69702	GCC		0.318	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		23	41	0	0	0	1	0	23	41				
TENM1	10178	broad.mit.edu	37	X	123514535	123514535	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:123514535T>C	ENST00000371130.3	-	31	8092	c.8029A>G	c.(8029-8031)Aca>Gca	p.T2677A	TENM1_ENST00000422452.2_Missense_Mutation_p.T2684A|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2677					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCCCTTCTGTCCATGCCCTA	0.512																																						ENST00000422452.2																			0											c.(8050-8052)Aca>Gca		teneurin transmembrane protein 1							179.0	168.0	172.0					X																	123514535		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514535T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8029A>G	X.37:g.123514535T>C	ENSP00000360171:p.Thr2677Ala					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T2677A	p.T2684A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8113	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8050A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887952	0.72410	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87571	-2.27;-2.23	5.73	5.73	0.89815	.	0.047536	0.85682	D	0.000000	D	0.88610	0.6483	M	0.64080	1.96	0.80722	D	1	P;P;D	0.55172	0.702;0.807;0.97	B;B;P	0.48815	0.12;0.294;0.591	D	0.89626	0.3852	10	0.66056	D	0.02	.	15.0184	0.71605	0.0:0.0:0.0:1.0	.	2683;2684;2677	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	2677;2684	ENSP00000360171:T2677A;ENSP00000403954:T2684A	ENSP00000360171:T2677A	T	-	1	0	ODZ1	123342216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.929000	0.55896	0.437000	0.28790	ACA		0.512	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		56	18	0	0	0	1	0	56	18				
ECT2L	345930	broad.mit.edu	37	6	139183810	139183810	+	Silent	SNP	G	G	A	rs200520042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:139183810G>A	ENST00000423192.1	+	10	1406	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Silent_p.T415T|ECT2L_ENST00000541398.1_Silent_p.T346T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	415							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAACTGGCACGTTCTTTACGG	0.468			"""N, Splice, Mis"""		ETP ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		20936	0.001		0.0	False		,,,				2504	0.0					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1243-1245)acG>acA		epithelial cell transforming sequence 2 oncogene-like							95.0	90.0	91.0					6																	139183810		1933	4146	6079	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139183810G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1245G>A	6.37:g.139183810G>A						ECT2L_ENST00000367682.2_Silent_p.T415T|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Silent_p.T346T	p.T415T			Q008S8	ECT2L_HUMAN			10	1406	+			415					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1245G>A	CCDS43508.1																																																																																				0.468	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		37	45	0	0	0	1	0	37	45				
HYAL2	8692	broad.mit.edu	37	3	50357818	50357818	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50357818G>A	ENST00000447092.1	-	1	2395	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.P35S|HYAL2_ENST00000442581.1_Missense_Mutation_p.P35S|HYAL2_ENST00000357750.4_Missense_Mutation_p.P35S			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	35					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCACAAAGGGCCGGCCAGTG	0.637																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(103-105)Ccc>Tcc		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						46.0	37.0	40.0					3																	50357818		2202	4300	6502	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357818G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.103C>T	3.37:g.50357818G>A	ENSP00000401853:p.Pro35Ser					TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.P35S|HYAL2_ENST00000357750.4_Missense_Mutation_p.P35S|HYAL2_ENST00000442581.1_Missense_Mutation_p.P35S	p.P35S			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	2395	-			35					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.103C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061847	0.93846	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190;ENST00000426286;ENST00000428028;ENST00000415028	T;T;T;T;T;T;T;T;D	0.82984	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-1.67	6.03	5.17	0.71159	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91078	0.4897	10	0.62326	D	0.03	-33.3104	14.0336	0.64632	0.0725:0.0:0.9275:0.0	.	35;35	B3KRZ2;Q12891	.;HYAL2_HUMAN	S	35	ENSP00000401853:P35S;ENSP00000350387:P35S;ENSP00000378571:P35S;ENSP00000406657:P35S;ENSP00000399677:P35S;ENSP00000398714:P35S;ENSP00000409642:P35S;ENSP00000414656:P35S;ENSP00000405855:P35S	ENSP00000350387:P35S	P	-	1	0	HYAL2	50332822	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.761000	0.85260	1.572000	0.49736	0.557000	0.71058	CCC		0.637	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		13	12	0	0	0	1	0	13	12				
KIAA1614	57710	broad.mit.edu	37	1	180905307	180905307	+	Silent	SNP	G	G	A	rs201220751		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180905307G>A	ENST00000367588.4	+	5	2317	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	KIAA1614_ENST00000367587.1_Silent_p.T375T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	754										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCCCATGACGCCTGAATCAT	0.622																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2260-2262)acG>acA		KIAA1614							61.0	67.0	65.0					1																	180905307		2045	4183	6228	SO:0001819	synonymous_variant	57710							g.chr1:180905307G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2262G>A	1.37:g.180905307G>A						KIAA1614_ENST00000367587.1_Silent_p.T375T	p.T754T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			5	2317	+			754					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.2262G>A	CCDS41442.1																																																																																				0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		4	21	0	0	0	1	0	4	21				
LINGO1	84894	broad.mit.edu	37	15	77907837	77907837	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77907837C>T	ENST00000355300.6	-	2	586	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	LINGO1_ENST00000561030.1_Missense_Mutation_p.V132I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	138					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CCAGTGAAGACGCCTAGCGGG	0.572																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(412-414)Gtc>Atc		leucine rich repeat and Ig domain containing 1							81.0	86.0	84.0					15																	77907837		2114	4237	6351	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907837C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.412G>A	15.37:g.77907837C>T	ENSP00000347451:p.Val138Ile					LINGO1_ENST00000561030.1_Missense_Mutation_p.V132I	p.V138I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	586	-			138					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.412G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636729	0.87760	.	.	ENSG00000169783	ENST00000355300	T	0.57595	0.39	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	N	0.04320	-0.23	0.80722	D	1	P	0.40602	0.723	P	0.47626	0.552	T	0.38090	-0.9677	10	0.21014	T	0.42	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	138	Q96FE5	LIGO1_HUMAN	I	138	ENSP00000347451:V138I	ENSP00000347451:V138I	V	-	1	0	LINGO1	75694892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.659000	0.90383	0.561000	0.74099	GTC		0.572	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		18	30	0	0	0	1	0	18	30				
SASH1	23328	broad.mit.edu	37	6	148865629	148865629	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:148865629G>A	ENST00000367467.3	+	18	3498	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1008	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGGGCCCCAGTGGGGCCCTC	0.637																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3022-3024)aGt>aAt		SAM and SH3 domain containing 1							34.0	40.0	38.0					6																	148865629		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865629G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3023G>A	6.37:g.148865629G>A	ENSP00000356437:p.Ser1008Asn						p.S1008N	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3498	+		Ovarian(120;0.0169)	1008			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3023G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057374	0.07317	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.42900	0.96	3.54	0.214	0.15249	.	0.359416	0.26832	N	0.022264	T	0.11153	0.0272	L	0.27053	0.805	0.09310	N	1	B;B	0.19583	0.037;0.01	B;B	0.15870	0.014;0.007	T	0.33929	-0.9849	10	0.21540	T	0.41	-1.4757	13.2785	0.60200	0.0:0.5668:0.4332:0.0	.	989;1008	Q6P4R9;O94885	.;SASH1_HUMAN	N	1008;418	ENSP00000356437:S1008N	ENSP00000356437:S1008N	S	+	2	0	SASH1	148907322	0.096000	0.21769	0.000000	0.03702	0.023000	0.10783	0.777000	0.26718	-0.001000	0.14495	-0.156000	0.13503	AGT		0.637	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		15	34	0	0	0	1	0	15	34				
CARD11	84433	broad.mit.edu	37	7	2987233	2987233	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2987233G>T	ENST00000396946.4	-	3	599	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	66	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L59L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGATGGCAGCATAGGGGCA	0.542			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - coding silent(1)	p.L59L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(196-198)Ctg>Atg		caspase recruitment domain family, member 11							237.0	176.0	197.0					7																	2987233		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987233G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.196C>A	7.37:g.2987233G>T	ENSP00000380150:p.Leu66Met						p.L66M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	599	-		Ovarian(82;0.0115)	66			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.196C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005494	0.54254	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.22134	1.97;2.05	5.32	3.49	0.39957	DEATH-like (2);Caspase Recruitment (2);	0.068017	0.64402	D	0.000010	T	0.40570	0.1122	L	0.58810	1.83	0.58432	D	0.99999	D	0.76494	0.999	D	0.79108	0.992	T	0.32955	-0.9887	10	0.72032	D	0.01	-23.6429	12.656	0.56788	0.1419:0.0:0.8581:0.0	.	66	Q9BXL7	CAR11_HUMAN	M	66	ENSP00000380150:L66M;ENSP00000348779:L66M	ENSP00000348779:L66M	L	-	1	2	CARD11	2953759	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.301000	0.59086	1.403000	0.46800	0.650000	0.86243	CTG		0.542	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		30	52	1	0	1.45844e-13	1	1.58619e-13	30	52				
PLEKHG1	57480	broad.mit.edu	37	6	151153216	151153216	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151153216C>T	ENST00000358517.2	+	15	3180	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A990V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	990							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		ATTAAGAAGGCGAATCAACTT	0.498																																						ENST00000367328.1																			0				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						c.(2968-2970)gCg>gTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							85.0	97.0	93.0					6																	151153216		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153216C>T	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.2969C>T	6.37:g.151153216C>T	ENSP00000351318:p.Ala990Val					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A990V	p.A990V	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3281	+			990					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2969C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243012	0.58995	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30714	1.52;1.52	5.81	4.93	0.64822	.	0.046720	0.85682	N	0.000000	T	0.10551	0.0258	L	0.41236	1.265	0.48571	D	0.999674	P;P;P	0.47841	0.901;0.83;0.83	B;B;B	0.29785	0.107;0.107;0.107	T	0.03957	-1.0989	10	0.38643	T	0.18	.	13.9917	0.64372	0.0:0.9267:0.0:0.0733	.	797;990;990	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	990	ENSP00000356297:A990V;ENSP00000351318:A990V	ENSP00000351318:A990V	A	+	2	0	PLEKHG1	151194909	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	5.711000	0.68400	1.431000	0.47355	0.655000	0.94253	GCG		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			5	102	0	0	0	1	0	5	102				
ZNF160	90338	broad.mit.edu	37	19	53572740	53572740	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53572740G>T	ENST00000429604.1	-	7	1462	c.1047C>A	c.(1045-1047)gcC>gcA	p.A349A	ZNF160_ENST00000601421.1_Silent_p.A313A|ZNF160_ENST00000418871.1_Silent_p.A349A|ZNF160_ENST00000599056.1_Silent_p.A349A	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	349					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTCCTCTAAAGGCTTTTCCAC	0.403																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(937-939)gcC>gcA		zinc finger protein 160							85.0	87.0	86.0					19																	53572740		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572740G>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1047C>A	19.37:g.53572740G>T						ZNF160_ENST00000418871.1_Silent_p.A349A|ZNF160_ENST00000429604.1_Silent_p.A349A|ZNF160_ENST00000599056.1_Silent_p.A349A	p.A313A			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1815	-			349					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.939C>A	CCDS12859.1																																																																																				0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		26	46	1	0	4.59853e-10	1	4.90296e-10	26	46				
KIAA0319	9856	broad.mit.edu	37	6	24559300	24559300	+	Missense_Mutation	SNP	C	C	T	rs141240086		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24559300C>T	ENST00000378214.3	-	17	3199	c.2675G>A	c.(2674-2676)cGg>cAg	p.R892Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R892Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R847Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R883Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R892Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	892					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTTGAGAGCCGCATGTGCAG	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19234	0.0		0.0	False		,,,				2504	0.0					ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2647-2649)cGg>cAg		KIAA0319		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	61.0	65.0		2648,2675,2540,2675,2675	2.0	0.4	6	dbSNP_134	65	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	43,43,43,43,43	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	benign,benign,benign,benign,benign	883/1064,892/1073,847/1028,892/1012,892/1073	24559300	8,12998	2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24559300C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2675G>A	6.37:g.24559300C>T	ENSP00000367459:p.Arg892Gln					KIAA0319_ENST00000378214.3_Missense_Mutation_p.R892Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R847Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R892Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R892Q	p.R883Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			18	3290	-			892					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2648G>A	CCDS34348.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.290	0.053069	0.08291	2.27E-4	8.14E-4	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.05786	3.39;3.39;3.4;3.4;3.4	3.94	2.04	0.26737	.	0.218608	0.38548	N	0.001644	T	0.00496	0.0016	N	0.01410	-0.885	0.09310	N	0.999991	B;B;B	0.23891	0.093;0.093;0.056	B;B;B	0.12837	0.005;0.008;0.003	T	0.43294	-0.9400	10	0.10111	T	0.7	-11.2212	4.4751	0.11731	0.0:0.4683:0.0:0.5317	.	892;883;892	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	892;883;847;892;892	ENSP00000439700:R892Q;ENSP00000442403:R883Q;ENSP00000401086:R847Q;ENSP00000367459:R892Q;ENSP00000437656:R892Q	ENSP00000367459:R892Q	R	-	2	0	KIAA0319	24667279	0.979000	0.34478	0.426000	0.26672	0.971000	0.66376	1.685000	0.37659	0.924000	0.37069	0.650000	0.86243	CGG		0.478	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		15	14	0	0	0	1	0	15	14				
ADAMTS10	81794	broad.mit.edu	37	19	8668659	8668659	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8668659C>T	ENST00000597188.1	-	5	815	c.545G>A	c.(544-546)cGt>cAt	p.R182H	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R182H	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	182						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R182H(14)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CAGAGAGGAACGCTTGTACAC	0.587																																						ENST00000270328.4																			14	Substitution - Missense(14)	p.R182H(14)	kidney(14)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(544-546)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 10							110.0	81.0	91.0					19																	8668659		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668659C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.545G>A	19.37:g.8668659C>T	ENSP00000471851:p.Arg182His					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R182H|ADAMTS10_ENST00000596709.1_5'UTR	p.R182H			Q9H324	ATS10_HUMAN			4	811	-			182					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.545G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062364	0.93898	.	.	ENSG00000142303	ENST00000270328	T	0.62232	0.04	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.69305	0.3096	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.69676	-0.5081	10	0.48119	T	0.1	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	182	Q9H324	ATS10_HUMAN	H	182	ENSP00000270328:R182H	ENSP00000270328:R182H	R	-	2	0	ADAMTS10	8574659	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.537000	0.67186	2.705000	0.92388	0.585000	0.79938	CGT		0.587	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		12	19	0	0	0	1	0	12	19				
ABCB8	11194	broad.mit.edu	37	7	150742338	150742338	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150742338G>A	ENST00000297504.6	+	17	2176	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	ABCB8_ENST00000358849.4_Missense_Mutation_p.A687T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.A599T|ABCB8_ENST00000498578.1_Missense_Mutation_p.A662T			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	704	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CGGGCTATACGCCGAGCTCAT	0.632																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2059-2061)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							64.0	60.0	61.0					7																	150742338		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150742338G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2110G>A	7.37:g.150742338G>A	ENSP00000297504:p.Ala704Thr					ABCB8_ENST00000297504.6_Missense_Mutation_p.A704T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.A662T|ABCB8_ENST00000542328.1_Missense_Mutation_p.A599T	p.A687T	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2152	+			704			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.2059G>A		.	.	.	.	.	.	.	.	.	.	g	5.612	0.297633	0.10622	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.4	1.48	0.22813	ABC transporter-like (1);	0.279485	0.33477	N	0.004865	T	0.54806	0.1881	L	0.31294	0.92	0.22389	N	0.999141	B;B;B;B	0.24426	0.103;0.036;0.036;0.061	B;B;B;B	0.24269	0.024;0.016;0.016;0.052	T	0.30621	-0.9972	10	0.21540	T	0.41	-1.7296	4.846	0.13514	0.1041:0.0:0.4937:0.4022	.	599;662;704;687	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	T	687;670;704;599;662	ENSP00000351717:A687T;ENSP00000297504:A704T;ENSP00000438776:A599T;ENSP00000418271:A662T	ENSP00000297504:A704T	A	+	1	0	ABCB8	150373271	0.822000	0.29219	0.191000	0.23289	0.278000	0.26855	1.789000	0.38724	0.538000	0.28769	0.457000	0.33378	GCC		0.632	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		18	30	0	0	0	1	0	18	30				
COL7A1	1294	broad.mit.edu	37	3	48615753	48615753	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48615753C>T	ENST00000328333.8	-	64	5640		c.e64+1		COL7A1_ENST00000454817.1_Splice_Site|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACACACTCACGTTTTTTCCA	0.562																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CS991356	COL7A1	S		c.e64+1		collagen, type VII, alpha 1							114.0	93.0	100.0					3																	48615753		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48615753C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5532+1G>A	3.37:g.48615753C>T						COL7A1_ENST00000454817.1_Splice_Site		NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	64	5640	-								Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37		CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244919	0.79912	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.598	0.76602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL7A1	48590757	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.714000	0.68422	2.698000	0.92095	0.563000	0.77884	.		0.562	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Intron	13	13	0	0	0	1	0	13	13				
CELA2B	51032	broad.mit.edu	37	1	15813898	15813898	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15813898C>T	ENST00000375910.3	+	7	783	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	253	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCCATCTTCACGCGGGTCTCC	0.597																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(757-759)aCg>aTg		chymotrypsin-like elastase family, member 2B							145.0	137.0	140.0					1																	15813898		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813898C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.758C>T	1.37:g.15813898C>T	ENSP00000365075:p.Thr253Met						p.T253M	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			7	783	+			253			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.758C>T	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138867	0.56936	.	.	ENSG00000215704	ENST00000375910	D	0.95205	-3.64	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.105878	0.40728	U	0.001028	D	0.96950	0.9004	M	0.77313	2.365	0.51012	D	0.999909	D	0.89917	1.0	D	0.97110	1.0	D	0.97590	1.0116	10	0.87932	D	0	.	15.3006	0.73949	0.0:1.0:0.0:0.0	.	253	P08218	CEL2B_HUMAN	M	253	ENSP00000365075:T253M	ENSP00000365075:T253M	T	+	2	0	CELA2B	15686485	1.000000	0.71417	0.979000	0.43373	0.123000	0.20343	5.743000	0.68655	2.249000	0.74217	0.603000	0.83216	ACG		0.597	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		39	56	0	0	0	1	0	39	56				
IGSF9	57549	broad.mit.edu	37	1	159906633	159906633	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159906633G>T	ENST00000368094.1	-	5	663	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	IGSF9_ENST00000361509.3_Missense_Mutation_p.L156M|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	156	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACAACGCAGGGTCACAGGC	0.642											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(466-468)Ctg>Atg		immunoglobulin superfamily, member 9							64.0	64.0	64.0					1																	159906633		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159906633G>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.466C>A	1.37:g.159906633G>T	ENSP00000357073:p.Leu156Met		OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_ENST00000361509.3_Missense_Mutation_p.L156M	p.L156M	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	663	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	156			Ig-like 2.			Missense_Mutation	SNP	ENST00000368094.1	37	c.466C>A	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262634	0.59431	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	D;D	0.86366	-2.11;-2.11	4.96	0.639	0.17747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33980	N	0.004369	D	0.88883	0.6558	M	0.80332	2.49	0.35291	D	0.78217	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.86697	0.1927	9	.	.	.	-10.3905	8.0729	0.30699	0.391:0.0:0.609:0.0	.	156;156	Q9P2J2;C9JI81	TUTLA_HUMAN;.	M	156	ENSP00000355049:L156M;ENSP00000357073:L156M	.	L	-	1	2	IGSF9	158173257	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	2.021000	0.41020	-0.075000	0.12798	0.462000	0.41574	CTG		0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		6	28	1	0	0.00116845	1	0.0011864	6	28				
CLEC18B	497190	broad.mit.edu	37	16	74444924	74444924	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74444924G>A	ENST00000339953.5	-	9	1114	c.993C>T	c.(991-993)ggC>ggT	p.G331G		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	331	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGCACCCCGCCTTTCCTCT	0.617																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(991-993)ggC>ggT		C-type lectin domain family 18, member B							63.0	72.0	69.0					16																	74444924		2189	4247	6436	SO:0001819	synonymous_variant	497190					extracellular region	sugar binding	g.chr16:74444924G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.993C>T	16.37:g.74444924G>A							p.G331G	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			9	1114	-			331			C-type lectin.		B4DF90	Silent	SNP	ENST00000339953.5	37	c.993C>T	CCDS32484.1																																																																																				0.617	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		9	78	0	0	0	1	0	9	78				
KMT2D	8085	broad.mit.edu	37	12	49420496	49420496	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49420496G>A	ENST00000301067.7	-	48	15252	c.15253C>T	c.(15253-15255)Cac>Tac	p.H5085Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5085					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTCCTCGGTGCAGGGCAACC	0.597																																						ENST00000301067.7																			0											c.(15253-15255)Cac>Tac		lysine (K)-specific methyltransferase 2D							45.0	50.0	48.0					12																	49420496		2133	4235	6368	SO:0001583	missense	8085							g.chr12:49420496G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15253C>T	12.37:g.49420496G>A	ENSP00000301067:p.His5085Tyr						p.H5085Y	NM_003482.3	NP_003473.3					48	15252	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15253C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.296014	0.40594	.	.	ENSG00000167548	ENST00000301067	T	0.70749	-0.51	4.72	4.72	0.59763	.	0.000000	0.38778	N	0.001576	T	0.66066	0.2752	N	0.12961	0.28	0.45378	D	0.998365	P	0.48911	0.917	P	0.51324	0.666	T	0.73388	-0.3998	10	0.87932	D	0	.	16.8307	0.85943	0.0:0.0:1.0:0.0	.	5085	O14686	MLL2_HUMAN	Y	5085	ENSP00000301067:H5085Y	ENSP00000301067:H5085Y	H	-	1	0	MLL2	47706763	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.344000	0.79699	0.655000	0.94253	CAC		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	15	0	0	0	1	0	19	15				
SLC18A3	6572	broad.mit.edu	37	10	50820020	50820020	+	Missense_Mutation	SNP	C	C	T	rs555224844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50820020C>T	ENST00000374115.3	+	1	1674	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	412					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGTGGACGTGCGCCATGTCTC	0.617																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1234-1236)Cgc>Tgc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							47.0	41.0	43.0					10																	50820020		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820020C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1234C>T	10.37:g.50820020C>T	ENSP00000363229:p.Arg412Cys					CHAT_ENST00000339797.1_Intron	p.R412C	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1674	+			412					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1234C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327381	0.81690	.	.	ENSG00000187714	ENST00000374115	T	0.06449	3.3	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	T	0.35941	0.0949	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50101	-0.8867	10	0.87932	D	0	-12.2065	18.5339	0.91002	0.0:1.0:0.0:0.0	.	412	Q16572	VACHT_HUMAN	C	412	ENSP00000363229:R412C	ENSP00000363229:R412C	R	+	1	0	SLC18A3	50490026	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.809000	0.62591	2.380000	0.81148	0.561000	0.74099	CGC		0.617	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		10	17	0	0	0	1	0	10	17				
PAPPA	5069	broad.mit.edu	37	9	118950454	118950454	+	Silent	SNP	C	C	A	rs556662763		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:118950454C>A	ENST00000328252.3	+	2	1806	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	479	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGAAATCACCAATGTCACTC	0.488																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1435-1437)acC>acA		pregnancy-associated plasma protein A, pappalysin 1							96.0	72.0	80.0					9																	118950454		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950454C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1437C>A	9.37:g.118950454C>A						PAPPA_ENST00000534838.1_5'UTR	p.T479T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1806	+			479			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1437C>A	CCDS6813.1																																																																																				0.488	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		14	27	1	0	4.7546e-09	1	5.0353e-09	14	27				
QRICH2	84074	broad.mit.edu	37	17	74288956	74288956	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74288956G>A	ENST00000262765.5	-	4	1533	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	452	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accaaaccacgctgatctgca	0.552																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1354-1356)Cgt>Tgt		glutamine rich 2							94.0	93.0	93.0					17																	74288956		2184	4300	6484	SO:0001583	missense	84074						protein binding	g.chr17:74288956G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1354C>T	17.37:g.74288956G>A	ENSP00000262765:p.Arg452Cys						p.R452C	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1533	-			452			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1354C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	9.250	1.040547	0.19669	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08807	3.05	5.26	1.9	0.25705	.	.	.	.	.	T	0.08044	0.0201	N	0.22421	0.69	0.09310	N	1	D;P	0.69078	0.997;0.923	P;B	0.50708	0.648;0.436	T	0.28650	-1.0037	9	0.45353	T	0.12	1.9031	4.5211	0.11959	0.0838:0.3387:0.4398:0.1377	.	452;452	B5MD94;Q9H0J4	.;QRIC2_HUMAN	C	452	ENSP00000262765:R452C	ENSP00000262765:R452C	R	-	1	0	QRICH2	71800551	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.490000	0.06482	0.514000	0.28300	0.512000	0.50108	CGT		0.552	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		17	28	0	0	0	1	0	17	28				
HAVCR2	84868	broad.mit.edu	37	5	156514161	156514161	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156514161G>A	ENST00000307851.4	-	7	1588	c.858C>T	c.(856-858)agC>agT	p.S286S	HAVCR2_ENST00000522593.1_Silent_p.S258S	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	286						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGCTGCCTGCTGCTGACAT	0.428																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(856-858)agC>agT		hepatitis A virus cellular receptor 2							128.0	105.0	113.0					5																	156514161		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156514161G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.858C>T	5.37:g.156514161G>A						HAVCR2_ENST00000522593.1_Silent_p.S258S	p.S286S	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1588	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	286					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.858C>T	CCDS4333.1																																																																																				0.428	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			24	27	0	0	0	1	0	24	27				
TLE2	7089	broad.mit.edu	37	19	3006490	3006490	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3006490G>A	ENST00000262953.6	-	15	1690	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Silent_p.G143G|TLE2_ENST00000443826.3_Silent_p.G354G|TLE2_ENST00000591529.1_Silent_p.G490G|TLE2_ENST00000590536.1_Silent_p.G477G|TLE2_ENST00000455444.2_Silent_p.G354G|TLE2_ENST00000426948.2_Silent_p.G490G	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	476					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CACAGCCCTTGCCGCCCGTGT	0.716																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1426-1428)ggC>ggT		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							14.0	17.0	16.0					19																	3006490		2075	4215	6290	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3006490G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1428C>T	19.37:g.3006490G>A						TLE2_ENST00000443826.3_Silent_p.G354G|TLE2_ENST00000591529.1_Silent_p.G490G|TLE2_ENST00000455444.2_Silent_p.G354G|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Silent_p.G143G|TLE2_ENST00000426948.2_Silent_p.G490G|TLE2_ENST00000590536.1_Silent_p.G477G	p.G476G	NM_003260.4	NP_003251.2	Q04725	TLE2_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)	15	1690	-			476					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	ENST00000262953.6	37	c.1428C>T	CCDS45911.1																																																																																				0.716	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		4	10	0	0	0	1	0	4	10				
KBTBD6	89890	broad.mit.edu	37	13	41705280	41705280	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41705280G>A	ENST00000379485.1	-	1	1602	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	KBTBD6_ENST00000499385.2_Silent_p.C390C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	456										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TAACATTGTAGCATTCCACTT	0.448																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1366-1368)tgC>tgT		kelch repeat and BTB (POZ) domain containing 6							102.0	104.0	104.0					13																	41705280		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41705280G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1368C>T	13.37:g.41705280G>A						KBTBD6_ENST00000499385.2_Silent_p.C390C	p.C456C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1602	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	456					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1368C>T	CCDS9376.1																																																																																				0.448	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	54	0	0	0	1	0	6	54				
FAM162A	26355	broad.mit.edu	37	3	122126189	122126189	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122126189G>A	ENST00000477892.1	+	4	409	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	FAM162A_ENST00000469967.1_Missense_Mutation_p.A109T|FAM162A_ENST00000232125.5_Missense_Mutation_p.A99T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TCTAATGATTGCCCTGACGGT	0.418																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(325-327)Gcc>Acc		family with sequence similarity 162, member A							170.0	166.0	167.0					3																	122126189		1963	4164	6127	SO:0001583	missense	26355					integral to membrane		g.chr3:122126189G>A	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.325G>A	3.37:g.122126189G>A	ENSP00000419088:p.Ala109Thr					FAM162A_ENST00000469967.1_Missense_Mutation_p.A109T|FAM162A_ENST00000232125.5_Missense_Mutation_p.A99T	p.A109T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			4	409	+			109					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.325G>A	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095228	0.76870	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.34667	1.35;1.35;1.35	5.48	5.48	0.80851	.	0.268780	0.42548	D	0.000691	T	0.58850	0.2151	M	0.82056	2.57	0.41969	D	0.990746	D;D	0.65815	0.995;0.988	P;P	0.60609	0.877;0.783	T	0.62765	-0.6785	10	0.66056	D	0.02	.	14.7347	0.69406	0.0:0.0:1.0:0.0	.	109;109	E9PH05;Q96A26	.;F162A_HUMAN	T	99;109;109;108	ENSP00000232125:A99T;ENSP00000419088:A109T;ENSP00000419491:A109T	ENSP00000232125:A99T	A	+	1	0	FAM162A	123608879	0.997000	0.39634	0.997000	0.53966	0.263000	0.26337	6.467000	0.73547	2.861000	0.98227	0.650000	0.86243	GCC		0.418	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		24	18	0	0	0	1	0	24	18				
MORN1	79906	broad.mit.edu	37	1	2288909	2288909	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2288909G>A	ENST00000378531.3	-	10	1171	c.998C>T	c.(997-999)gCc>gTc	p.A333V	MORN1_ENST00000378529.3_Missense_Mutation_p.A333V|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	333										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCATGGAGGGCACCCAAATG	0.692																																						ENST00000378531.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(997-999)gCc>gTc		MORN repeat containing 1							45.0	48.0	47.0					1																	2288909		2203	4300	6503	SO:0001583	missense	79906							g.chr1:2288909G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.998C>T	1.37:g.2288909G>A	ENSP00000367792:p.Ala333Val					MORN1_ENST00000378529.3_Missense_Mutation_p.A333V|MORN1_ENST00000606372.1_5'UTR	p.A333V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	10	1171	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	333					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.998C>T	CCDS40.1	.	.	.	.	.	.	.	.	.	.	G	7.737	0.700531	0.15106	.	.	ENSG00000116151	ENST00000378531;ENST00000378529	T;T	0.57107	0.84;0.42	2.79	-0.148	0.13424	.	2.839900	0.01854	N	0.036176	T	0.43233	0.1238	L	0.36672	1.1	0.09310	N	1	B;B	0.16396	0.017;0.012	B;B	0.12156	0.007;0.006	T	0.31223	-0.9951	10	0.59425	D	0.04	.	5.0304	0.14407	0.4454:0.0:0.5546:0.0	.	333;333	Q5T089-2;Q5T089	.;MORN1_HUMAN	V	333	ENSP00000367792:A333V;ENSP00000367790:A333V	ENSP00000367790:A333V	A	-	2	0	MORN1	2278769	0.036000	0.19791	0.000000	0.03702	0.001000	0.01503	2.543000	0.45752	-0.027000	0.13873	-0.251000	0.11542	GCC		0.692	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		7	56	0	0	0	1	0	7	56				
EPHA4	2043	broad.mit.edu	37	2	222291329	222291329	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222291329C>T	ENST00000281821.2	-	16	2742	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	EPHA4_ENST00000409938.1_Missense_Mutation_p.A901T|EPHA4_ENST00000392071.4_Missense_Mutation_p.A850T|EPHA4_ENST00000409854.1_Missense_Mutation_p.A901T|EPHA4_ENST00000469354.1_5'Flank	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	901					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCCAACAAGGCAGTGTTAGGT	0.458																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2701-2703)Gcc>Acc		EPH receptor A4							43.0	43.0	43.0					2																	222291329		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222291329C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2701G>A	2.37:g.222291329C>T	ENSP00000281821:p.Ala901Thr					EPHA4_ENST00000409938.1_Missense_Mutation_p.A901T|EPHA4_ENST00000409854.1_Missense_Mutation_p.A901T|EPHA4_ENST00000392071.4_Missense_Mutation_p.A850T	p.A901T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	16	2742	-		Renal(207;0.0183)	901					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2701G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408390	0.25378	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.77	5.77	0.91146	Protein kinase-like domain (1);	0.215683	0.48767	D	0.000178	T	0.47432	0.1445	N	0.10972	0.075	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	10	0.36615	T	0.2	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	901	P54764	EPHA4_HUMAN	T	901;901;901;850	ENSP00000281821:A901T;ENSP00000386276:A901T;ENSP00000386829:A901T;ENSP00000375923:A850T	ENSP00000281821:A901T	A	-	1	0	EPHA4	221999573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.034000	0.49751	2.723000	0.93209	0.655000	0.94253	GCC		0.458	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			11	16	0	0	0	1	0	11	16				
CAPN1	823	broad.mit.edu	37	11	64972270	64972270	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64972270C>T	ENST00000527323.1	+	10	1522	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	CAPN1_ENST00000279247.6_Missense_Mutation_p.R428C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R428C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	428	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCAGAAGCACCGTCGCCGCGA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(1282-1284)Cgt>Tgt		calpain 1, (mu/I) large subunit							42.0	50.0	48.0					11																	64972270		2065	4191	6256	SO:0001583	missense	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972270C>T	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1282C>T	11.37:g.64972270C>T	ENSP00000431984:p.Arg428Cys		OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_ENST00000279247.6_Missense_Mutation_p.R428C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R428C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428C	p.R428C			P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	10	1522	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	428			Domain III.		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.1282C>T	CCDS44644.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490914	0.84962	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.51	3.56	0.40772	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.060868	0.64402	D	0.000003	D	0.95101	0.8413	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.94654	0.7842	10	0.62326	D	0.03	.	9.8407	0.40998	0.3713:0.6287:0.0:0.0	.	428	P07384	CAN1_HUMAN	C	428;428;428;428;374;428	ENSP00000435272:R428C;ENSP00000431686:R428C;ENSP00000434176:R428C;ENSP00000279247:R428C;ENSP00000431984:R428C	ENSP00000259755:R374C	R	+	1	0	CAPN1	64728846	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.714000	0.54889	0.965000	0.38133	0.563000	0.77884	CGT		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			3	50	0	0	0	1	0	3	50				
CAPN10	11132	broad.mit.edu	37	2	241535745	241535745	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241535745C>T	ENST00000391984.2	+	8	1484	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R430W	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	430	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTAGAGAAGCGGCGGGTCAA	0.662																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1288-1290)Cgg>Tgg		calpain 10							44.0	49.0	48.0					2																	241535745		1981	4140	6121	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241535745C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1288C>T	2.37:g.241535745C>T	ENSP00000375844:p.Arg430Trp					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R430W|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	p.R430W	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	8	1484	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	430			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1288C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531177	0.64972	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	T;T	0.44881	0.91;0.91	4.14	3.08	0.35506	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.517167	0.18023	N	0.154171	T	0.57770	0.2076	M	0.69185	2.1	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.67900	0.873;0.954	T	0.61412	-0.7068	10	0.87932	D	0	.	10.3087	0.43695	0.2442:0.7558:0.0:0.0	.	430;430	B7WPF5;Q9HC96	.;CAN10_HUMAN	W	430	ENSP00000375844:R430W;ENSP00000384422:R430W	ENSP00000349556:R430W	R	+	1	2	CAPN10	241184418	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	2.838000	0.48199	2.014000	0.59158	0.563000	0.77884	CGG		0.662	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		15	22	0	0	0	1	0	15	22				
C11orf16	56673	broad.mit.edu	37	11	8953852	8953852	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8953852C>T	ENST00000326053.5	-	2	110	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	C11orf16_ENST00000528998.1_5'UTR|C11orf16_ENST00000525780.1_Missense_Mutation_p.E2K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	2										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGGAGGATTCCATGGCCTTC	0.617																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(4-6)Gaa>Aaa		chromosome 11 open reading frame 16							38.0	32.0	34.0					11																	8953852		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8953852C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.4G>A	11.37:g.8953852C>T	ENSP00000318999:p.Glu2Lys					C11orf16_ENST00000525780.1_Missense_Mutation_p.E2K|C11orf16_ENST00000528998.1_5'UTR	p.E2K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	2	110	-			2					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.4G>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493292	0.44352	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	T;T	0.35973	1.29;1.28	5.41	2.56	0.30785	.	1.092710	0.06973	N	0.818521	T	0.32071	0.0817	L	0.47716	1.5	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.13407	0.009;0.009	T	0.30475	-0.9977	10	0.51188	T	0.08	-16.5725	6.0701	0.19885	0.0:0.6208:0.1959:0.1833	.	2;2	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	K	2	ENSP00000436818:E2K;ENSP00000318999:E2K	ENSP00000318999:E2K	E	-	1	0	C11orf16	8910428	0.100000	0.21855	0.028000	0.17463	0.032000	0.12392	0.825000	0.27393	0.422000	0.26005	0.561000	0.74099	GAA		0.617	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		5	7	0	0	0	1	0	5	7				
ZNF654	55279	broad.mit.edu	37	3	88189696	88189696	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:88189696G>T	ENST00000309495.5	+	1	1443	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAGACCAAAAGATGCCTGACA	0.343																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1234-1236)aaG>aaT		zinc finger protein 654							70.0	71.0	71.0					3																	88189696		1859	4095	5954	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189696G>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1236G>T	3.37:g.88189696G>T	ENSP00000312141:p.Lys412Asn					CGGBP1_ENST00000462901.1_Intron	p.K412N	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1443	+		Lung NSC(201;0.0283)	412					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1236G>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011338	0.35511	.	.	ENSG00000175105	ENST00000309495	T	0.11385	2.78	5.44	5.44	0.79542	.	.	.	.	.	T	0.11879	0.0289	L	0.44542	1.39	0.33647	D	0.608046	P	0.42692	0.787	B	0.37091	0.241	T	0.14587	-1.0467	9	0.31617	T	0.26	.	18.2307	0.89934	0.0:0.0:1.0:0.0	.	412	Q8IZM8	ZN654_HUMAN	N	412	ENSP00000312141:K412N	ENSP00000312141:K412N	K	+	3	2	ZNF654	88272386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.431000	0.44775	2.536000	0.85505	0.591000	0.81541	AAG		0.343	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		18	28	1	0	2.4624e-09	1	2.6129e-09	18	28				
MTHFD1L	25902	broad.mit.edu	37	6	151355736	151355736	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151355736G>T	ENST00000367321.3	+	25	2968	c.2694G>T	c.(2692-2694)caG>caT	p.Q898H		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	898	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACACTCAACAGGTAAAAGTTC	0.413																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.e25+1		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							44.0	43.0	43.0					6																	151355736		2203	4300	6503	SO:0001630	splice_region_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151355736G>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2694+1G>T	6.37:g.151355736G>T							p.Q898_splice	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	25	2968	+		Ovarian(120;0.128)	898			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Splice_Site	SNP	ENST00000367321.3	37	c.2694_splice	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473244	0.84640	.	.	ENSG00000120254	ENST00000367321;ENST00000453602	T;T	0.23552	1.9;1.9	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.942;0.999	T	0.58423	-0.7639	10	0.62326	D	0.03	.	18.6942	0.91594	0.0:0.0:1.0:0.0	.	899;653;898	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	H	898;23	ENSP00000356290:Q898H;ENSP00000391022:Q23H	ENSP00000356290:Q898H	Q	+	3	2	MTHFD1L	151397429	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.321000	0.72881	2.484000	0.83849	0.563000	0.77884	CAG		0.413	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	Missense_Mutation	13	14	1	0	7.03913e-09	1	7.44699e-09	13	14				
CAD	790	broad.mit.edu	37	2	27465566	27465566	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27465566C>A	ENST00000403525.1	+	40	6256	c.6112C>A	c.(6112-6114)Ctg>Atg	p.L2038M	CAD_ENST00000264705.4_Missense_Mutation_p.L2101M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTGTCAGCCTGCGCTACGT	0.642																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(6301-6303)Ctg>Atg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						89.0	80.0	84.0					2																	27465566		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465566C>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6112C>A	2.37:g.27465566C>A	ENSP00000384510:p.Leu2038Met					CAD_ENST00000403525.1_Missense_Mutation_p.L2038M	p.L2101M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			41	6463	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2101			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.6301C>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891216	0.72524	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99098	-5.42;-5.42	5.21	4.31	0.51392	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.077187	0.53938	N	0.000055	D	0.98566	0.9521	L	0.50919	1.6	0.58432	D	0.999999	D;B	0.67145	0.996;0.122	D;B	0.69824	0.966;0.083	D	0.98619	1.0666	10	0.87932	D	0	-28.9754	7.5062	0.27547	0.1669:0.7488:0.0:0.0843	.	2038;2101	F8VPD4;P27708	.;PYR1_HUMAN	M	2101;2038	ENSP00000264705:L2101M;ENSP00000384510:L2038M	ENSP00000264705:L2101M	L	+	1	2	CAD	27319070	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.606000	0.54095	1.149000	0.42402	0.462000	0.41574	CTG		0.642	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	39	1	0	9.04412e-07	1	9.43082e-07	25	39				
FBXO39	162517	broad.mit.edu	37	17	6684071	6684071	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6684071A>G	ENST00000321535.4	+	2	1014	c.884A>G	c.(883-885)tAc>tGc	p.Y295C		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	295										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ATCATGAAGTACGAACGCTTG	0.542																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(883-885)tAc>tGc		F-box protein 39							68.0	55.0	60.0					17																	6684071		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6684071A>G	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.884A>G	17.37:g.6684071A>G	ENSP00000321386:p.Tyr295Cys						p.Y295C	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	1014	+			295						Missense_Mutation	SNP	ENST00000321535.4	37	c.884A>G	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911525	0.52439	.	.	ENSG00000177294	ENST00000321535	T	0.51071	0.72	5.02	5.02	0.67125	.	0.221277	0.31936	N	0.006827	T	0.45875	0.1364	L	0.27053	0.805	0.29530	N	0.852874	D	0.59767	0.986	P	0.54499	0.754	T	0.42464	-0.9450	10	0.37606	T	0.19	-15.4153	11.7215	0.51685	1.0:0.0:0.0:0.0	.	295	Q8N4B4	FBX39_HUMAN	C	295	ENSP00000321386:Y295C	ENSP00000321386:Y295C	Y	+	2	0	FBXO39	6624795	0.990000	0.36364	0.947000	0.38551	0.953000	0.61014	4.220000	0.58567	2.188000	0.69820	0.528000	0.53228	TAC		0.542	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		16	22	0	0	0	1	0	16	22				
STRN4	29888	broad.mit.edu	37	19	47231891	47231891	+	Silent	SNP	C	C	T	rs372710891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47231891C>T	ENST00000263280.6	-	7	1072	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	STRN4_ENST00000539396.1_Silent_p.G222G|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Silent_p.G341G|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	341						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CATGGGGGCTCCCATCCACAG	0.632																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1021-1023)ggG>ggA		striatin, calmodulin binding protein 4							59.0	58.0	58.0					19																	47231891		2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231891C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1023G>A	19.37:g.47231891C>T						STRN4_ENST00000263280.6_Silent_p.G341G|STRN4_ENST00000539396.1_Silent_p.G222G|CTB-174O21.2_ENST00000600716.1_RNA	p.G341G			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1473	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	341					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1023G>A	CCDS12690.1																																																																																				0.632	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			8	17	0	0	0	1	0	8	17				
SERPINA9	327657	broad.mit.edu	37	14	94935863	94935863	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94935863T>C	ENST00000380365.3	-	2	393	c.315A>G	c.(313-315)acA>acG	p.T105T	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000337425.5_Silent_p.T123T|SERPINA9_ENST00000448305.2_Silent_p.T25T|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Silent_p.T87T			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	105					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGACTCTGGTGTGTGTGTGA	0.577																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(367-369)acA>acG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							103.0	108.0	107.0					14																	94935863		2139	4256	6395	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935863T>C	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.315A>G	14.37:g.94935863T>C						SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000380365.3_Silent_p.T105T|SERPINA9_ENST00000448305.2_Silent_p.T25T|SERPINA9_ENST00000546329.1_Silent_p.T87T	p.T123T	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	443	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	105					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.369A>G																																																																																					0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	38	0	0	0	1	0	27	38				
LMNTD2	256329	broad.mit.edu	37	11	555841	555841	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:555841C>T	ENST00000329451.3	-	12	1529	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		489	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCAGGGAGCGGGAAGCGGT	0.761																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(1465-1467)ccG>ccA		chromosome 11 open reading frame 35							11.0	13.0	12.0					11																	555841		2055	4085	6140	SO:0001819	synonymous_variant	256329							g.chr11:555841C>T																												ENST00000329451.3:c.1467G>A	11.37:g.555841C>T							p.P489P	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1529	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	489			Pro-rich.			Silent	SNP	ENST00000329451.3	37	c.1467G>A	CCDS7701.1																																																																																				0.761	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			5	11	0	0	0	1	0	5	11				
FRMD6	122786	broad.mit.edu	37	14	52186847	52186847	+	Missense_Mutation	SNP	C	C	T	rs35856363		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52186847C>T	ENST00000344768.5	+	11	1295	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	FRMD6_ENST00000356218.4_Missense_Mutation_p.R359W|FRMD6_ENST00000395718.2_Missense_Mutation_p.R359W|FRMD6_ENST00000553556.1_Missense_Mutation_p.R9W|FRMD6_ENST00000554167.1_Missense_Mutation_p.R290W			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	367					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAAACGGTCGCGGGCCAGCGG	0.582																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1075-1077)Cgg>Tgg		FERM domain containing 6							59.0	58.0	58.0					14																	52186847		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52186847C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1099C>T	14.37:g.52186847C>T	ENSP00000343899:p.Arg367Trp					FRMD6_ENST00000356218.4_Missense_Mutation_p.R359W|FRMD6_ENST00000553556.1_Missense_Mutation_p.R9W|FRMD6_ENST00000554167.1_Missense_Mutation_p.R290W|FRMD6_ENST00000344768.5_Missense_Mutation_p.R367W	p.R359W	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			11	1360	+	all_epithelial(31;0.0163)|Breast(41;0.089)		367					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1075C>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772323	0.69992	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.81711	0.4880	N	0.24115	0.695	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.53224	0.721;0.53;0.502	D	0.83896	0.0287	10	0.87932	D	0	.	15.9936	0.80225	0.1352:0.8648:0.0:0.0	rs35856363	290;367;359	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	W	359;359;367;290;97;9;9	ENSP00000348550:R359W;ENSP00000379068:R359W;ENSP00000343899:R367W;ENSP00000451977:R290W;ENSP00000451157:R97W	ENSP00000343899:R367W	R	+	1	2	FRMD6	51256597	1.000000	0.71417	0.969000	0.41365	0.075000	0.17131	4.814000	0.62627	2.838000	0.97847	0.591000	0.81541	CGG		0.582	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		11	14	0	0	0	1	0	11	14				
CELSR3	1951	broad.mit.edu	37	3	48699531	48699531	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48699531G>A	ENST00000164024.4	-	1	817	c.537C>T	c.(535-537)caC>caT	p.H179H	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.H179H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	179					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGACCGTGGTGCCGAATCA	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(535-537)caC>caT		cadherin, EGF LAG seven-pass G-type receptor 3							42.0	50.0	47.0					3																	48699531		2202	4298	6500	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699531G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.537C>T	3.37:g.48699531G>A						CELSR3_ENST00000164024.4_Silent_p.H179H	p.H179H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	817	-			179					O75092	Silent	SNP	ENST00000164024.4	37	c.537C>T	CCDS2775.1																																																																																				0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		32	50	0	0	0	1	0	32	50				
EVI5L	115704	broad.mit.edu	37	19	7925513	7925513	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7925513C>T	ENST00000270530.4	+	13	1604	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	EVI5L_ENST00000538904.2_Missense_Mutation_p.R481W	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	470					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCGAGGCTGCGGGAGACGGA	0.662																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1408-1410)Cgg>Tgg		ecotropic viral integration site 5-like							38.0	34.0	35.0					19																	7925513		2200	4298	6498	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7925513C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1408C>T	19.37:g.7925513C>T	ENSP00000270530:p.Arg470Trp					EVI5L_ENST00000538904.2_Missense_Mutation_p.R481W	p.R470W	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			13	1604	+			470					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.1408C>T	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829118	0.71258	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97455	-4.39;1.41	4.38	3.33	0.38152	.	0.198967	0.44483	D	0.000444	D	0.96965	0.9009	M	0.65975	2.015	0.31434	N	0.672808	D;D	0.71674	0.998;0.998	P;P	0.55260	0.772;0.772	D	0.95795	0.8828	10	0.56958	D	0.05	-37.2376	11.4407	0.50094	0.1816:0.8184:0.0:0.0	.	481;470	B9A6I9;Q96CN4	.;EVI5L_HUMAN	W	470;481	ENSP00000270530:R470W;ENSP00000445905:R481W	ENSP00000270530:R470W	R	+	1	2	EVI5L	7831513	0.776000	0.28616	0.875000	0.34327	0.622000	0.37654	1.169000	0.31871	1.049000	0.40321	0.456000	0.33151	CGG		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		5	3	0	0	0	1	0	5	3				
HPX	3263	broad.mit.edu	37	11	6452617	6452617	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6452617C>T	ENST00000265983.3	-	10	1313	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	405					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CACAAGGCTCCGTCTACCTTC	0.572																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1213-1215)Gga>Aga		hemopexin							140.0	126.0	131.0					11																	6452617		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452617C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1213G>A	11.37:g.6452617C>T	ENSP00000265983:p.Gly405Arg						p.G405R	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1313	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	405					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1213G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668124	0.67814	.	.	ENSG00000110169	ENST00000265983	T	0.11169	2.8	5.64	5.64	0.86602	Hemopexin/matrixin (2);	0.265492	0.42682	D	0.000662	T	0.18002	0.0432	N	0.24115	0.695	0.31187	N	0.70136	D	0.89917	1.0	D	0.68621	0.959	T	0.02625	-1.1132	10	0.87932	D	0	-7.9627	10.5968	0.45343	0.0:0.913:0.0:0.087	.	405	P02790	HEMO_HUMAN	R	405	ENSP00000265983:G405R	ENSP00000265983:G405R	G	-	1	0	HPX	6409193	0.004000	0.15560	0.955000	0.39395	0.813000	0.45954	0.987000	0.29603	2.676000	0.91093	0.561000	0.74099	GGA		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		15	25	0	0	0	1	0	15	25				
DCTN1	1639	broad.mit.edu	37	2	74593948	74593948	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74593948C>T	ENST00000361874.3	-	21	2745	c.2428G>A	c.(2428-2430)Gct>Act	p.A810T	DCTN1_ENST00000409567.3_Missense_Mutation_p.A790T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A793T|DCTN1_ENST00000409240.1_Missense_Mutation_p.A773T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A676T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A676T|DCTN1_ENST00000394003.3_Missense_Mutation_p.A803T|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	810					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATCCCAGGAGCATCTGTCCCT	0.532																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2428-2430)Gct>Act		dynactin 1							82.0	80.0	81.0					2																	74593948		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593948C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2428G>A	2.37:g.74593948C>T	ENSP00000354791:p.Ala810Thr					DCTN1_ENST00000394003.3_Missense_Mutation_p.A803T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A676T|DCTN1_ENST00000409567.3_Missense_Mutation_p.A790T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A676T|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Missense_Mutation_p.A773T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A793T	p.A810T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			21	2745	-			810					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2428G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796756	0.90453	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77750	-0.69;-0.88;-0.68;-0.68;-1.12;-0.88;-0.9	5.32	5.32	0.75619	.	0.000000	0.43110	D	0.000620	D	0.84763	0.5544	L	0.46157	1.445	0.80722	D	1	P;P;D;B;P;D	0.67145	0.704;0.488;0.993;0.098;0.9;0.996	B;B;D;B;P;D	0.77557	0.115;0.108;0.977;0.122;0.487;0.99	D	0.84339	0.0526	10	0.49607	T	0.09	-5.4847	17.9185	0.88959	0.0:1.0:0.0:0.0	.	790;773;810;803;676;676	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	T	810;803;793;676;676;773;793;790	ENSP00000354791:A810T;ENSP00000377571:A803T;ENSP00000384844:A676T;ENSP00000387270:A676T;ENSP00000386406:A773T;ENSP00000387327:A793T;ENSP00000386843:A790T	ENSP00000354791:A810T	A	-	1	0	DCTN1	74447456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.117000	0.77129	2.769000	0.95229	0.563000	0.77884	GCT		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		11	62	0	0	0	1	0	11	62				
CCDC51	79714	broad.mit.edu	37	3	48473935	48473935	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48473935G>A	ENST00000395694.2	-	4	1204	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	CCDC51_ENST00000447018.1_Silent_p.D264D|CCDC51_ENST00000395696.1_Silent_p.D373D|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Silent_p.D264D|CCDC51_ENST00000442740.1_Silent_p.D264D|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	373						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGCTCCGTGTCTGACAGTG	0.557																																						ENST00000395694.2																			0				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1117-1119)gaC>gaT		coiled-coil domain containing 51							57.0	61.0	59.0					3																	48473935		2080	4218	6298	SO:0001819	synonymous_variant	79714					integral to membrane		g.chr3:48473935G>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.1119C>T	3.37:g.48473935G>A						CCDC51_ENST00000395696.1_Silent_p.D373D|CCDC51_ENST00000447018.1_Silent_p.D264D|CCDC51_ENST00000442740.1_Silent_p.D264D|CCDC51_ENST00000412398.2_Silent_p.D264D	p.D373D	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1204	-			373					Q9HA01	Silent	SNP	ENST00000395694.2	37	c.1119C>T	CCDS2766.2																																																																																				0.557	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		10	13	0	0	0	1	0	10	13				
GCK	2645	broad.mit.edu	37	7	44185141	44185141	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44185141C>T	ENST00000403799.3	-	9	1677	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	GCK_ENST00000345378.2_Missense_Mutation_p.R404H|GCK_ENST00000395796.3_Missense_Mutation_p.R402H|GCK_ENST00000437084.1_Missense_Mutation_p.R386H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	403	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACAGTGATGCGCATTACGTC	0.682																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1207-1209)cGc>cAc		glucokinase (hexokinase 4)							32.0	32.0	32.0					7																	44185141		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185141C>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1208G>A	7.37:g.44185141C>T	ENSP00000384247:p.Arg403His					GCK_ENST00000395796.3_Missense_Mutation_p.R402H|GCK_ENST00000345378.2_Missense_Mutation_p.R404H|GCK_ENST00000437084.1_Missense_Mutation_p.R386H	p.R403H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1677	-			403					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1208G>A	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769554	0.49680	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.57	4.69	0.59074	Hexokinase, C-terminal (1);	0.249453	0.37623	N	0.002016	D	0.92795	0.7709	L	0.43598	1.365	0.43126	D	0.994857	B;B;B;B;B	0.14012	0.005;0.009;0.002;0.002;0.005	B;B;B;B;B	0.08055	0.002;0.003;0.0;0.002;0.002	D	0.89072	0.3470	10	0.33141	T	0.24	-31.478	9.8109	0.40822	0.0:0.7995:0.0:0.2005	.	403;404;402;386;403	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	H	87;403;402;404;386	ENSP00000338009:R87H;ENSP00000384247:R403H;ENSP00000379142:R402H;ENSP00000223366:R404H;ENSP00000402840:R386H	ENSP00000338009:R87H	R	-	2	0	GCK	44151666	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.709000	0.37909	1.356000	0.45884	0.561000	0.74099	CGC		0.682	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			12	11	0	0	0	1	0	12	11				
MYRIP	25924	broad.mit.edu	37	3	40275408	40275408	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40275408C>T	ENST00000302541.6	+	12	2306	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Missense_Mutation_p.A566V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A468V|MYRIP_ENST00000444716.1_Missense_Mutation_p.A655V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	655	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTCATCAATGCCACAGAGGAG	0.507																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1963-1965)gCc>gTc		myosin VIIA and Rab interacting protein							89.0	85.0	86.0					3																	40275408		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40275408C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1964C>T	3.37:g.40275408C>T	ENSP00000301972:p.Ala655Val					MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A468V|MYRIP_ENST00000396217.3_Missense_Mutation_p.A566V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000444716.1_Missense_Mutation_p.A655V	p.A655V	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	12	2306	+			655			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1964C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038435	0.93630	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.79	5.79	0.91817	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.62723	1.935	0.46749	D	0.999188	D;D	0.67145	0.978;0.996	P;D	0.67900	0.905;0.954	T	0.52298	-0.8594	9	.	.	.	.	17.5338	0.87822	0.0:1.0:0.0:0.0	.	566;655	Q32M42;Q8NFW9	.;MYRIP_HUMAN	V	655;655;566;468	ENSP00000398665:A655V;ENSP00000301972:A655V;ENSP00000379519:A566V;ENSP00000438297:A468V	.	A	+	2	0	MYRIP	40250412	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.710000	0.74670	2.733000	0.93635	0.655000	0.94253	GCC		0.507	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		16	36	0	0	0	1	0	16	36				
MIER1	57708	broad.mit.edu	37	1	67447511	67447511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67447511C>T	ENST00000355356.3	+	12	1269	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	MIER1_ENST00000355977.6_Nonsense_Mutation_p.R311*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R391*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000357692.2_Nonsense_Mutation_p.R391*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R391*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R427*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	374					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGCATCTAGTCGAGCACCATC	0.378																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(1171-1173)Cga>Tga		mesoderm induction early response 1, transcriptional regulator							82.0	78.0	80.0					1																	67447511		1910	4123	6033	SO:0001587	stop_gained	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67447511C>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1120C>T	1.37:g.67447511C>T	ENSP00000347514:p.Arg374*					MIER1_ENST00000371018.3_Nonsense_Mutation_p.R391*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R427*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R311*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000355356.3_Nonsense_Mutation_p.R374*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R391*	p.R391*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			14	1428	+			398					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	ENST00000355356.3	37	c.1171C>T	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741130	0.89573	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.68	3.67	0.42095	.	0.101782	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6397	13.9958	0.64397	0.4141:0.5859:0.0:0.0	.	.	.	.	X	395;391;311;391;427;391;427;374;374	.	ENSP00000347514:R374X	R	+	1	2	MIER1	67220099	0.350000	0.24878	0.762000	0.31397	0.464000	0.32679	0.817000	0.27281	1.526000	0.49068	0.650000	0.86243	CGA		0.378	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		15	21	0	0	0	1	0	15	21				
NUP210L	91181	broad.mit.edu	37	1	154072581	154072581	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154072581G>A	ENST00000368559.3	-	14	1929	c.1858C>T	c.(1858-1860)Cat>Tat	p.H620Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H620Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	620					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGCGATATGTGTACTGGAA	0.448																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1858-1860)Cat>Tat		nucleoporin 210kDa-like							181.0	168.0	172.0					1																	154072581		1934	4153	6087	SO:0001583	missense	91181					integral to membrane		g.chr1:154072581G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1858C>T	1.37:g.154072581G>A	ENSP00000357547:p.His620Tyr					NUP210L_ENST00000271854.3_Missense_Mutation_p.H620Y	p.H620Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1929	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		620					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1858C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.680043	0.03353	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06142	3.6;3.34	5.15	2.29	0.28610	.	0.200662	0.35013	N	0.003501	T	0.01800	0.0057	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45702	-0.9243	10	0.33940	T	0.23	-20.0506	8.1234	0.30984	0.3224:0.0:0.6776:0.0	.	620;620	E7EP56;Q5VU65	.;P210L_HUMAN	Y	620	ENSP00000357547:H620Y;ENSP00000271854:H620Y	ENSP00000271854:H620Y	H	-	1	0	NUP210L	152339205	0.288000	0.24324	0.001000	0.08648	0.236000	0.25371	1.401000	0.34589	0.207000	0.20607	-0.448000	0.05591	CAT		0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		46	69	0	0	0	1	0	46	69				
DEGS2	123099	broad.mit.edu	37	14	100615732	100615732	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100615732C>T	ENST00000305631.5	-	2	973	c.398G>A	c.(397-399)cGc>cAc	p.R133H	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGTAGCGGTGGTGGTC	0.697																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(397-399)cGc>cAc		delta(4)-desaturase, sphingolipid 2							28.0	27.0	27.0					14																	100615732		2198	4299	6497	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615732C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.398G>A	14.37:g.100615732C>T	ENSP00000307126:p.Arg133His					DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.R133H	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	973	-		Melanoma(154;0.212)	133						Missense_Mutation	SNP	ENST00000305631.5	37	c.398G>A	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784838	0.90282	.	.	ENSG00000168350	ENST00000305631	T	0.13901	2.55	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66208	-0.5981	10	0.87932	D	0	-12.8093	17.3127	0.87214	0.0:1.0:0.0:0.0	.	133	Q6QHC5	DEGS2_HUMAN	H	133	ENSP00000307126:R133H	ENSP00000307126:R133H	R	-	2	0	DEGS2	99685485	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.727000	0.84838	2.154000	0.67381	0.561000	0.74099	CGC		0.697	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		9	7	0	0	0	1	0	9	7				
TNFRSF19	55504	broad.mit.edu	37	13	24242129	24242129	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24242129C>T	ENST00000382258.4	+	8	951	c.747C>T	c.(745-747)cgC>cgT	p.R249R	TNFRSF19_ENST00000248484.4_Silent_p.R249R|TNFRSF19_ENST00000382263.3_Silent_p.R249R|TNFRSF19_ENST00000403372.2_Silent_p.R117R	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	249					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGCCGGTGCGCTTGCTCCCAT	0.552																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(745-747)cgC>cgT		tumor necrosis factor receptor superfamily, member 19							48.0	44.0	45.0					13																	24242129		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24242129C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.747C>T	13.37:g.24242129C>T						TNFRSF19_ENST00000403372.2_Silent_p.R117R|TNFRSF19_ENST00000248484.4_Silent_p.R249R|TNFRSF19_ENST00000382258.4_Silent_p.R249R	p.R249R	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	8	931	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	249					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.747C>T	CCDS9302.1																																																																																				0.552	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		3	6	0	0	0	1	0	3	6				
HIST1H3J	8356	broad.mit.edu	37	6	27858182	27858182	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27858182C>T	ENST00000359303.2	-	1	388	c.389G>A	c.(388-390)cGt>cAt	p.R130H	HIST1H3J_ENST00000479986.1_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	130					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCCACGGATACGACGCGCAAG	0.502																																						ENST00000359303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						c.(388-390)cGt>cAt		histone cluster 1, H3j							62.0	63.0	62.0					6																	27858182		2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858182C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.389G>A	6.37:g.27858182C>T	ENSP00000352252:p.Arg130His						p.R130H	NM_003535.2	NP_003526.1	P68431	H31_HUMAN			1	388	-			130					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.389G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678691	0.29783	.	.	ENSG00000197153	ENST00000359303	T	0.75154	-0.91	4.06	4.06	0.47325	.	.	.	.	.	T	0.79257	0.4415	.	.	.	0.49798	D	0.999828	.	.	.	.	.	.	T	0.80567	-0.1325	6	0.54805	T	0.06	.	16.036	0.80628	0.0:1.0:0.0:0.0	.	.	.	.	H	130	ENSP00000352252:R130H	ENSP00000352252:R130H	R	-	2	0	HIST1H3J	27966161	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	5.616000	0.67709	2.560000	0.86352	0.655000	0.94253	CGT		0.502	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		6	31	0	0	0	1	0	6	31				
SYT10	341359	broad.mit.edu	37	12	33592426	33592426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33592426C>T	ENST00000228567.3	-	1	328	c.32G>A	c.(31-33)aGt>aAt	p.S11N	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	11					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGGCACAGACTGTTCACTCC	0.547																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(31-33)aGt>aAt		synaptotagmin X							262.0	237.0	246.0					12																	33592426		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33592426C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.32G>A	12.37:g.33592426C>T	ENSP00000228567:p.Ser11Asn					SYT10_ENST00000535526.1_5'UTR	p.S11N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			1	328	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		11					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.32G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069778	0.55539	.	.	ENSG00000110975	ENST00000228567	T	0.46819	0.86	4.38	3.46	0.39613	.	0.140525	0.31976	U	0.006774	T	0.38295	0.1035	L	0.44542	1.39	0.80722	D	1	B	0.33512	0.415	B	0.31946	0.138	T	0.27640	-1.0068	10	0.45353	T	0.12	.	11.2098	0.48790	0.1847:0.8153:0.0:0.0	.	11	Q6XYQ8	SYT10_HUMAN	N	11	ENSP00000228567:S11N	ENSP00000228567:S11N	S	-	2	0	SYT10	33483693	1.000000	0.71417	0.866000	0.34008	0.826000	0.46750	3.078000	0.50096	1.099000	0.41499	0.650000	0.86243	AGT		0.547	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		35	70	0	0	0	1	0	35	70				
DPP3	10072	broad.mit.edu	37	11	66259054	66259054	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66259054C>T	ENST00000360510.2	+	8	953	c.888C>T	c.(886-888)ggC>ggT	p.G296G	DPP3_ENST00000531863.1_Silent_p.G316G|DPP3_ENST00000530165.1_Silent_p.G266G|DPP3_ENST00000532677.1_Silent_p.G315G|DPP3_ENST00000541961.1_Silent_p.G296G|DPP3_ENST00000453114.1_Silent_p.G296G			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	296					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACAAGAGGGGCTCCCGCTTCT	0.657											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(943-945)ggC>ggT		dipeptidyl-peptidase 3							35.0	42.0	39.0					11																	66259054		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259054C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.888C>T	11.37:g.66259054C>T			OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	DPP3_ENST00000541961.1_Silent_p.G296G|DPP3_ENST00000531863.1_Silent_p.G316G|DPP3_ENST00000453114.1_Silent_p.G296G|DPP3_ENST00000360510.2_Silent_p.G296G|DPP3_ENST00000530165.1_Silent_p.G266G	p.G315G	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			8	1346	+			296					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.945C>T	CCDS8141.1																																																																																				0.657	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			8	12	0	0	0	1	0	8	12				
CPXM1	56265	broad.mit.edu	37	20	2774860	2774860	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2774860C>T	ENST00000380605.2	-	14	2245	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	727					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCTTAGCCGCTCCAGGCGCC	0.617																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2179-2181)gaG>gaA		carboxypeptidase X (M14 family), member 1							37.0	42.0	40.0					20																	2774860		2202	4298	6500	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774860C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2181G>A	20.37:g.2774860C>T							p.E727E	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2245	-			727					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.2181G>A	CCDS13033.1																																																																																				0.617	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		24	32	0	0	0	1	0	24	32				
NEBL	10529	broad.mit.edu	37	10	21250654	21250654	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21250654T>C	ENST00000417816.2	-	4	657	c.304A>G	c.(304-306)Acg>Gcg	p.T102A	NEBL_ENST00000377159.4_Missense_Mutation_p.T68A	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	765					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGAGTGTCCGTGACGATGCTG	0.448																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(304-306)Acg>Gcg		nebulette							223.0	205.0	211.0					10																	21250654		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21250654T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.304A>G	10.37:g.21250654T>C	ENSP00000393896:p.Thr102Ala					NEBL_ENST00000377159.4_Missense_Mutation_p.T68A	p.T102A	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			4	657	-			765					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	c.304A>G	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	T	1.565	-0.535733	0.04082	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.31247	1.5;1.5	5.42	5.42	0.78866	.	.	.	.	.	T	0.12518	0.0304	N	0.02192	-0.645	0.21652	N	0.99961	B	0.26363	0.147	B	0.20384	0.029	T	0.05209	-1.0899	9	0.02654	T	1	.	15.7612	0.78082	0.0:0.0:0.0:1.0	.	102	Q70I54	.	A	102;68	ENSP00000393896:T102A;ENSP00000366364:T68A	ENSP00000366364:T68A	T	-	1	0	NEBL	21290660	0.974000	0.33945	0.076000	0.20297	0.950000	0.60333	1.914000	0.39966	2.182000	0.69389	0.528000	0.53228	ACG		0.448	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		36	59	0	0	0	1	0	36	59				
DST	667	broad.mit.edu	37	6	56481480	56481480	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56481480C>T	ENST00000370765.6	-	24	6892	c.6785G>A	c.(6784-6786)cGt>cAt	p.R2262H	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1604					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGAGGAACACGAATGCCTCT	0.448																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6784-6786)cGt>cAt		dystonin							100.0	101.0	101.0					6																	56481480		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481480C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6785G>A	6.37:g.56481480C>T	ENSP00000359801:p.Arg2262His					DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	p.R2262H	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6892	-	Lung NSC(77;0.103)		1604					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6785G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966527	0.53507	.	.	ENSG00000151914	ENST00000370765	T	0.78924	-1.22	5.77	5.77	0.91146	.	.	.	.	.	D	0.87981	0.6315	.	.	.	0.09310	N	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.86776	0.1976	7	0.52906	T	0.07	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	2262	Q03001-3	.	H	2262	ENSP00000359801:R2262H	ENSP00000359801:R2262H	R	-	2	0	DST	56589439	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	7.776000	0.85560	2.890000	0.99128	0.650000	0.86243	CGT		0.448	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		34	48	0	0	0	1	0	34	48				
TSPAN17	26262	broad.mit.edu	37	5	176083709	176083709	+	Silent	SNP	G	G	A	rs200138829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176083709G>A	ENST00000503045.1	+	7	634	c.579G>A	c.(577-579)gaG>gaA	p.E193E	TSPAN17_ENST00000298564.10_Silent_p.E105E|TSPAN17_ENST00000508164.1_Silent_p.E213E|TSPAN17_ENST00000515708.1_Silent_p.E213E|TSPAN17_ENST00000310032.8_Silent_p.E216E|TSPAN17_ENST00000405525.2_Silent_p.E216E			Q96FV3	TSN17_HUMAN	tetraspanin 17	213					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTGGAGCAGCAGGGCT	0.657																																						ENST00000298564.10																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13						c.(313-315)gaG>gaA		tetraspanin 17							108.0	98.0	101.0					5																	176083709		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176083709G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.579G>A	5.37:g.176083709G>A						TSPAN17_ENST00000503045.1_Silent_p.E193E|TSPAN17_ENST00000310032.8_Silent_p.E216E|TSPAN17_ENST00000515708.1_Silent_p.E213E|TSPAN17_ENST00000508164.1_Silent_p.E213E|TSPAN17_ENST00000405525.2_Silent_p.E216E	p.E105E			Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	464	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	213					Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37	c.315G>A		.	.	.	.	.	.	.	.	.	.	G	8.189	0.795632	0.16327	.	.	ENSG00000048140	ENST00000507471	.	.	.	4.47	2.64	0.31445	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49688	-0.8913	4	.	.	.	-14.8735	7.5701	0.27902	0.0901:0.0:0.7436:0.1663	.	.	.	.	N	146	.	.	S	+	2	0	TSPAN17	176016315	0.999000	0.42202	1.000000	0.80357	0.915000	0.54546	0.412000	0.21131	0.860000	0.35481	0.491000	0.48974	AGC		0.657	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			13	21	0	0	0	1	0	13	21				
MARCH4	57574	broad.mit.edu	37	2	217234544	217234544	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:217234544C>T	ENST00000273067.4	-	1	2206	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	147						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CAGTGAGTAGCGATCCTCGGT	0.587																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(439-441)cGc>cAc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							80.0	69.0	73.0					2																	217234544		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234544C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.440G>A	2.37:g.217234544C>T	ENSP00000273067:p.Arg147His						p.R147H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	2206	-		Renal(323;0.0854)	147					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.440G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129258	0.56721	.	.	ENSG00000144583	ENST00000273067	T	0.15952	2.38	5.83	5.83	0.93111	.	0.900793	0.09861	N	0.746239	T	0.16938	0.0407	N	0.24115	0.695	0.58432	D	0.999991	D	0.54047	0.964	B	0.42916	0.402	T	0.33033	-0.9884	10	0.23891	T	0.37	3.3484	19.1022	0.93277	0.0:1.0:0.0:0.0	.	147	Q9P2E8	MARH4_HUMAN	H	147	ENSP00000273067:R147H	ENSP00000273067:R147H	R	-	2	0	MARCH4	216942789	1.000000	0.71417	0.958000	0.39756	0.397000	0.30659	5.548000	0.67255	2.757000	0.94681	0.591000	0.81541	CGC		0.587	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		15	22	0	0	0	1	0	15	22				
PEG3	5178	broad.mit.edu	37	19	57325822	57325822	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57325822G>A	ENST00000326441.9	-	10	4351	c.3988C>T	c.(3988-3990)Cca>Tca	p.P1330S	PEG3_ENST00000598410.1_Missense_Mutation_p.P1206S|PEG3_ENST00000593695.1_Missense_Mutation_p.P1204S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330S|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1330					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGAATGGTATAGCTCCT	0.423																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3988-3990)Cca>Tca		paternally expressed 3							89.0	87.0	88.0					19																	57325822		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325822G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3988C>T	19.37:g.57325822G>A	ENSP00000326581:p.Pro1330Ser					PEG3_ENST00000593695.1_Missense_Mutation_p.P1204S|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1206S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron	p.P1330S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4351	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1330					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3988C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273784	0.59649	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02916	4.11;4.11	4.48	2.38	0.29361	.	0.000000	0.47093	D	0.000246	T	0.11153	0.0272	M	0.73753	2.245	.	.	.	B;D;D	0.89917	0.192;1.0;1.0	B;D;D	0.83275	0.048;0.996;0.996	T	0.12400	-1.0549	9	0.33141	T	0.24	-7.766	9.0036	0.36097	0.1831:0.0:0.8169:0.0	.	1206;1330;1265	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1330	ENSP00000326581:P1330S;ENSP00000403051:P1330S	ENSP00000326581:P1330S	P	-	1	0	ZIM2	62017634	0.092000	0.21681	0.085000	0.20634	0.993000	0.82548	1.387000	0.34430	0.830000	0.34757	0.655000	0.94253	CCA		0.423	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			25	53	0	0	0	1	0	25	53				
C10orf55	414236	broad.mit.edu	37	10	75672731	75672731	+	Intron	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75672731G>T	ENST00000409178.1	-	3	301				PLAU_ENST00000446342.1_Missense_Mutation_p.K64N|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.K81N|PLAU_ENST00000372762.4_Missense_Mutation_p.K45N|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					ACCGAGGAAAGGCCAGCACTG	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(190-192)aaG>aaT		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						67.0	62.0	64.0					10																	75672731		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75672731G>T		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+69C>A	10.37:g.75672731G>T						PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.K45N|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.K81N|C10orf55_ENST00000409178.1_Intron	p.K64N	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			4	674	+	Prostate(51;0.0112)		81					Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.192G>T	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330131	0.60743	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62498	0.02;0.02;0.02	5.78	0.795	0.18643	Kringle (5);Kringle-like fold (1);	0.728583	0.14189	N	0.335441	T	0.55721	0.1938	L	0.39020	1.185	0.80722	D	1	B;B;P;B	0.44344	0.09;0.054;0.833;0.1	B;B;P;B	0.49301	0.037;0.017;0.606;0.038	T	0.46373	-0.9196	10	0.33141	T	0.24	.	7.4558	0.27266	0.4391:0.0:0.5609:0.0	.	64;45;81;81	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	N	64;81;45;45	ENSP00000388474:K64N;ENSP00000361850:K81N;ENSP00000361848:K45N	ENSP00000361847:K45N	K	+	3	2	PLAU	75342737	0.979000	0.34478	0.986000	0.45419	0.789000	0.44602	0.108000	0.15396	0.093000	0.17368	0.650000	0.86243	AAG		0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		20	33	1	0	4.96729e-08	1	5.22757e-08	20	33				
PLAA	9373	broad.mit.edu	37	9	26907936	26907936	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26907936A>G	ENST00000397292.3	-	13	2135	c.1718T>C	c.(1717-1719)tTg>tCg	p.L573S	PLAA_ENST00000520884.1_Missense_Mutation_p.L573S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	573	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AAGAAGTATCAAGTCATCCTC	0.363																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1717-1719)tTg>tCg		phospholipase A2-activating protein							123.0	117.0	119.0					9																	26907936		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26907936A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1718T>C	9.37:g.26907936A>G	ENSP00000380460:p.Leu573Ser					PLAA_ENST00000520884.1_Missense_Mutation_p.L573S	p.L573S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	13	2135	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	573			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1718T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441958	0.83993	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.57436	0.83;0.4	5.5	5.5	0.81552	PUL (2);	0.074488	0.56097	D	0.000034	T	0.69860	0.3158	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.71006	-0.4717	10	0.49607	T	0.09	-5.5943	15.6182	0.76784	1.0:0.0:0.0:0.0	.	573;573	E5RIM3;Q9Y263	.;PLAP_HUMAN	S	573	ENSP00000380460:L573S;ENSP00000429372:L573S	ENSP00000380460:L573S	L	-	2	0	PLAA	26897936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.071000	0.89494	2.101000	0.63845	0.528000	0.53228	TTG		0.363	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		37	40	0	0	0	1	0	37	40				
OR51M1	390059	broad.mit.edu	37	11	5410880	5410880	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5410880G>A	ENST00000328611.3	+	1	274	c.252G>A	c.(250-252)ggG>ggA	p.G84G	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	84					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACCTGGGGCTGTGTGTGT	0.478																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(250-252)ggG>ggA		olfactory receptor, family 51, subfamily M, member 1							148.0	139.0	142.0					11																	5410880		2042	4195	6237	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5410880G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.252G>A	11.37:g.5410880G>A						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.G84G	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	274	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	84					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.252G>A	CCDS53596.1																																																																																				0.478	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		40	41	0	0	0	1	0	40	41				
HIVEP2	3097	broad.mit.edu	37	6	143094585	143094585	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143094585G>A	ENST00000367604.1	-	4	1930	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R431W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R431W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	431					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.R431W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTAAGCCGACAGTATTTT	0.448																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.R431W(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(1291-1293)Cgg>Tgg		human immunodeficiency virus type I enhancer binding protein 2							110.0	103.0	106.0					6																	143094585		1924	4139	6063	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143094585G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1291C>T	6.37:g.143094585G>A	ENSP00000356576:p.Arg431Trp					HIVEP2_ENST00000367604.1_Missense_Mutation_p.R431W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R431W	p.R431W	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	2033	-			431					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.1291C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253111	0.59212	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.46819	0.86;0.86;0.86	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.79123	2.44	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.66763	-0.5841	10	0.87932	D	0	-19.3887	13.4791	0.61326	0.0:0.0:0.7446:0.2554	.	431	P31629	ZEP2_HUMAN	W	431	ENSP00000356576:R431W;ENSP00000356575:R431W;ENSP00000012134:R431W	ENSP00000012134:R431W	R	-	1	2	HIVEP2	143136278	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.882000	0.98803	0.655000	0.94253	CGG		0.448	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			22	40	0	0	0	1	0	22	40				
DPP6	1804	broad.mit.edu	37	7	154143322	154143322	+	Silent	SNP	G	G	A	rs538182642		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154143322G>A	ENST00000377770.3	+	2	408	c.267G>A	c.(265-267)ccG>ccA	p.P89P	DPP6_ENST00000404039.1_Silent_p.P25P|DPP6_ENST00000427557.1_Silent_p.P27P|DPP6_ENST00000406326.1_Silent_p.P89P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.P27P			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	89					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTAACCCTCCGCAGAGGAATT	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17043	0.0		0.0	False		,,,				2504	0.0				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(73-75)ccG>ccA		dipeptidyl-peptidase 6							133.0	132.0	133.0					7																	154143322		1894	4124	6018	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154143322G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.267G>A	7.37:g.154143322G>A						DPP6_ENST00000332007.3_Silent_p.P27P|DPP6_ENST00000427557.1_Silent_p.P27P|DPP6_ENST00000406326.1_Silent_p.P89P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.P89P	p.P25P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		2	662	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	89						Silent	SNP	ENST00000377770.3	37	c.75G>A																																																																																					0.423	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		17	23	0	0	0	1	0	17	23				
ADORA2A	135	broad.mit.edu	37	22	24829532	24829532	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24829532G>A	ENST00000337539.7	+	2	619	c.160G>A	c.(160-162)Gca>Aca	p.A54T	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	54					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGCCGACATCGCAGTGGGTGT	0.617																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(160-162)Gca>Aca		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						165.0	108.0	128.0					22																	24829532		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829532G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.160G>A	22.37:g.24829532G>A	ENSP00000336630:p.Ala54Thr					KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA	p.A54T	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			2	619	+	Colorectal(2;0.196)		54					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.160G>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426035	0.83667	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.37235	1.21;2.12;2.12;1.21;1.21	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.60012	1.86	0.54753	D	0.999989	D	0.76494	0.999	D	0.66716	0.946	T	0.52734	-0.8536	10	0.39692	T	0.17	-14.3775	16.4299	0.83839	0.0:0.0:1.0:0.0	.	54	P29274	AA2AR_HUMAN	T	54	ENSP00000404497:A54T;ENSP00000414802:A54T;ENSP00000336630:A54T;ENSP00000397071:A54T;ENSP00000400190:A54T	ENSP00000336630:A54T	A	+	1	0	ADORA2A	23159532	1.000000	0.71417	0.717000	0.30585	0.515000	0.34225	7.436000	0.80404	2.350000	0.79820	0.561000	0.74099	GCA		0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		4	74	0	0	0	1	0	4	74				
POLE	5426	broad.mit.edu	37	12	133244173	133244173	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133244173G>T	ENST00000320574.5	-	20	2278	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	POLE_ENST00000535270.1_Silent_p.T718T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	745					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCTGGCAGATGGTGGTGAGAC	0.572								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2233-2235)acC>acA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							328.0	277.0	295.0					12																	133244173		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133244173G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2235C>A	12.37:g.133244173G>T						POLE_ENST00000535270.1_Silent_p.T718T	p.T745T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	20	2278	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	745					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.2235C>A	CCDS9278.1																																																																																				0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		63	113	1	0	1.15062e-32	1	1.29117e-32	63	113				
UBA1	7317	broad.mit.edu	37	X	47061766	47061766	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47061766G>A	ENST00000335972.6	+	10	1102	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Missense_Mutation_p.V307M	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	307	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAATCCTTGGTGGCCTCACT	0.577																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(919-921)Gtg>Atg		ubiquitin-like modifier activating enzyme 1							68.0	55.0	59.0					X																	47061766		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47061766G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.919G>A	X.37:g.47061766G>A	ENSP00000338413:p.Val307Met					UBA1_ENST00000377351.4_Missense_Mutation_p.V307M	p.V307M	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			10	1102	+			307			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.919G>A	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018681	0.19355	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.29397	1.57;1.57	4.83	-1.46	0.08800	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.676266	0.15368	N	0.265997	T	0.19208	0.0461	L	0.29908	0.895	0.25451	N	0.988002	B	0.17667	0.023	B	0.12156	0.007	T	0.13176	-1.0519	10	0.59425	D	0.04	0.8381	7.8971	0.29712	0.0:0.5486:0.236:0.2154	.	307	P22314	UBA1_HUMAN	M	307	ENSP00000366568:V307M;ENSP00000338413:V307M	ENSP00000338413:V307M	V	+	1	0	UBA1	46946710	0.000000	0.05858	0.024000	0.17045	0.919000	0.55068	-1.004000	0.03678	-0.641000	0.05487	-0.410000	0.06199	GTG		0.577	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		8	5	0	0	0	1	0	8	5				
FAM217A	222826	broad.mit.edu	37	6	4070021	4070021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4070021G>A	ENST00000274673.3	-	7	839	c.436C>T	c.(436-438)Cca>Tca	p.P146S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	146																	AGACCTAATGGCATTGGCAGT	0.393																																						ENST00000274673.3																			0											c.(436-438)Cca>Tca		family with sequence similarity 217, member A							92.0	84.0	87.0					6																	4070021		2203	4300	6503	SO:0001583	missense	222826							g.chr6:4070021G>A	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.436C>T	6.37:g.4070021G>A	ENSP00000274673:p.Pro146Ser					FAM217A_ENST00000380188.2_5'UTR	p.P146S	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	839	-			146					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.436C>T	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384974	0.25031	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.24151	1.87	5.53	3.77	0.43336	.	0.368607	0.23594	N	0.046508	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	D	0.55605	0.972	P	0.47470	0.548	T	0.04041	-1.0982	10	0.87932	D	0	-5.1941	8.1047	0.30879	0.1779:0.0:0.8221:0.0	.	146	Q8IXS0	CF146_HUMAN	S	146;274	ENSP00000274673:P146S	ENSP00000274673:P146S	P	-	1	0	C6orf146	4015020	0.752000	0.28338	0.029000	0.17559	0.001000	0.01503	1.251000	0.32862	0.906000	0.36621	-0.145000	0.13849	CCA		0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		27	60	0	0	0	1	0	27	60				
BUD13	84811	broad.mit.edu	37	11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116619253G>A	ENST00000260210.4	-	10	1828	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	602					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1804-1806)gCc>gTc		BUD13 homolog (S. cerevisiae)							145.0	120.0	128.0					11																	116619253		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116619253G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1805C>T	11.37:g.116619253G>A	ENSP00000260210:p.Ala602Val					BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	p.A602V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	10	1828	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	602					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1805C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571537	0.96553	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.19250	2.16;2.16	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.44298	-0.9337	10	0.87932	D	0	-14.1825	19.7653	0.96337	0.0:0.0:1.0:0.0	.	468;602	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	V	468;602	ENSP00000364594:A468V;ENSP00000260210:A602V	ENSP00000260210:A602V	A	-	2	0	BUD13	116124463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.373000	0.97168	2.730000	0.93505	0.563000	0.77884	GCC		0.478	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		20	35	0	0	0	1	0	20	35				
IFT140	9742	broad.mit.edu	37	16	1630763	1630763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1630763C>T	ENST00000426508.2	-	13	1884	c.1521G>A	c.(1519-1521)tgG>tgA	p.W507*	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR|LA16c-425C2.1_ENST00000568149.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	507					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AACTTACCTGCCAGGTTCGAA	0.438																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1519-1521)tgG>tgA		intraflagellar transport 140 homolog (Chlamydomonas)							105.0	82.0	89.0					16																	1630763		2199	4300	6499	SO:0001587	stop_gained	9742							g.chr16:1630763C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1521G>A	16.37:g.1630763C>T	ENSP00000406012:p.Trp507*					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.W507*	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			13	1884	-		Hepatocellular(780;0.219)	507					A2A2A8|D3DU75|O60332|Q9UG52	Nonsense_Mutation	SNP	ENST00000426508.2	37	c.1521G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	42	9.267858	0.99120	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	.	.	.	5.42	5.42	0.78866	.	0.193647	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	.	.	.	X	507	.	ENSP00000380562:W507X	W	-	3	0	IFT140	1570764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.970000	0.49240	2.702000	0.92279	0.655000	0.94253	TGG		0.438	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		20	20	0	0	0	1	0	20	20				
APBB3	10307	broad.mit.edu	37	5	139939991	139939991	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139939991G>A	ENST00000357560.4	-	12	1574	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.I382I|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.R337C|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Silent_p.I375I|APBB3_ENST00000358580.5_Missense_Mutation_p.R339C|APBB3_ENST00000508496.2_Silent_p.I154I|APBB3_ENST00000354402.5_Silent_p.I384I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	377	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTCAGCGATGAGGCCAA	0.612																																						ENST00000358580.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1015-1017)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family B, member 3							58.0	50.0	53.0					5																	139939991		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139939991G>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1131C>T	5.37:g.139939991G>A						APBB3_ENST00000412920.3_Silent_p.I375I|APBB3_ENST00000511201.2_Missense_Mutation_p.R337C|APBB3_ENST00000356738.2_Silent_p.I382I|APBB3_ENST00000508496.2_Silent_p.I154I|APBB3_ENST00000357560.4_Silent_p.I377I|APBB3_ENST00000354402.5_Silent_p.I384I	p.R339C			O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1101	-			0			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1015C>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253943	0.39896	.	.	ENSG00000113108	ENST00000358580;ENST00000511201	T;T	0.25414	1.8;1.8	5.28	-4.01	0.04045	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.29918	N	0.822963	B	0.02656	0.0	B	0.01281	0.0	T	0.32268	-0.9913	7	.	.	.	-10.2166	14.045	0.64700	0.37:0.0:0.63:0.0	.	337	D6RBA1	.	C	339;337	ENSP00000351389:R339C;ENSP00000424317:R337C	.	R	-	1	0	APBB3	139920175	0.024000	0.19004	0.922000	0.36590	0.994000	0.84299	-0.726000	0.04936	-0.819000	0.04323	-0.150000	0.13652	CGC		0.612	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		9	13	0	0	0	1	0	9	13				
KANK2	25959	broad.mit.edu	37	19	11304609	11304609	+	Silent	SNP	G	G	A	rs142504157		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11304609G>A	ENST00000586659.1	-	4	461	c.147C>T	c.(145-147)taC>taT	p.Y49Y	KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000432929.2_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y|KANK2_ENST00000589894.1_Silent_p.Y49Y			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	49	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTCATCCACGTACTTGAGGA	0.687																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(145-147)taC>taT		KN motif and ankyrin repeat domains 2		G	,	1,4405	2.1+/-5.4	0,1,2202	47.0	51.0	50.0		147,147	0.4	1.0	19	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KANK2	NM_001136191.2,NM_015493.6	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	49/852,49/860	11304609	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11304609G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.147C>T	19.37:g.11304609G>A						KANK2_ENST00000589359.1_Silent_p.Y49Y|KANK2_ENST00000586659.1_Silent_p.Y49Y|KANK2_ENST00000589894.1_Silent_p.Y49Y|KANK2_ENST00000355150.5_Silent_p.Y49Y	p.Y49Y	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	507	-			49					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.147C>T	CCDS12255.1																																																																																				0.687	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		22	26	0	0	0	1	0	22	26				
OTOR	56914	broad.mit.edu	37	20	16729588	16729588	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16729588G>A	ENST00000246081.2	+	2	236	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	64	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAAAGGGCAGCAGATCTATG	0.363																																						ENST00000246081.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(190-192)caG>caA		otoraplin							76.0	79.0	78.0					20																	16729588		2203	4300	6503	SO:0001819	synonymous_variant	56914				sensory perception of sound	extracellular region		g.chr20:16729588G>A	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.192G>A	20.37:g.16729588G>A							p.Q64Q	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN			2	236	+			64			SH3.		D3DW22|Q3MIU6	Silent	SNP	ENST00000246081.2	37	c.192G>A	CCDS13124.1																																																																																				0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			10	54	0	0	0	1	0	10	54				
MST1R	4486	broad.mit.edu	37	3	49940296	49940296	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49940296G>A	ENST00000296474.3	-	1	774	c.747C>T	c.(745-747)taC>taT	p.Y249Y	MST1R_ENST00000344206.4_Silent_p.Y249Y|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCTGTGCACGTATTCAATAC	0.577																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(745-747)taC>taT		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							63.0	58.0	60.0					3																	49940296		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940296G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.747C>T	3.37:g.49940296G>A						MST1R_ENST00000344206.4_Silent_p.Y249Y|CTD-2330K9.2_ENST00000435478.1_RNA	p.Y249Y	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	774	-			249			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.747C>T	CCDS2807.1																																																																																				0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			13	30	0	0	0	1	0	13	30				
GOLIM4	27333	broad.mit.edu	37	3	167745559	167745559	+	Missense_Mutation	SNP	C	C	T	rs534465111		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167745559C>T	ENST00000470487.1	-	12	2269	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R499H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	527	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCTTGTTCACGAGGCTCATG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16435	0.001		0.0	False		,,,				2504	0.0					ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1579-1581)cGt>cAt		golgi integral membrane protein 4							244.0	244.0	244.0					3																	167745559		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167745559C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1580G>A	3.37:g.167745559C>T	ENSP00000417354:p.Arg527His					GOLIM4_ENST00000309027.4_Missense_Mutation_p.R499H	p.R527H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			12	2269	-			527			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1580G>A	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677791	0.47886	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.31	-10.6	0.00265	.	2.098630	0.01520	N	0.018303	T	0.32346	0.0826	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	9	0.40728	T	0.16	2.6529	8.5516	0.33455	0.0897:0.5379:0.0913:0.2811	.	499;527	F8W785;O00461	.;GOLI4_HUMAN	H	527;499	.	ENSP00000309893:R499H	R	-	2	0	GOLIM4	169228253	0.000000	0.05858	0.000000	0.03702	0.846000	0.48090	-0.891000	0.04135	-1.088000	0.03077	-0.696000	0.03686	CGT		0.468	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	127	0	0	0	1	0	4	127				
SPTBN2	6712	broad.mit.edu	37	11	66458794	66458794	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66458794G>A	ENST00000533211.1	-	27	5857	c.5526C>T	c.(5524-5526)caC>caT	p.H1842H	SPTBN2_ENST00000529997.1_Silent_p.H1842H|SPTBN2_ENST00000309996.2_Silent_p.H1842H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1842					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGTAGGCACAGTGTCGGCGCT	0.682																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5524-5526)caC>caT		spectrin, beta, non-erythrocytic 2							64.0	70.0	68.0					11																	66458794		2199	4289	6488	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66458794G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5526C>T	11.37:g.66458794G>A						SPTBN2_ENST00000309996.2_Silent_p.H1842H|SPTBN2_ENST00000529997.1_Silent_p.H1842H	p.H1842H			O15020	SPTN2_HUMAN			27	5857	-			1842					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5526C>T	CCDS8150.1																																																																																				0.682	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		29	53	0	0	0	1	0	29	53				
TRIML1	339976	broad.mit.edu	37	4	189060814	189060814	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:189060814C>A	ENST00000332517.3	+	1	242	c.102C>A	c.(100-102)agC>agA	p.S34R	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	34					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGCACAGCTTTTGTCTGG	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(100-102)agC>agA		tripartite motif family-like 1							181.0	180.0	181.0					4																	189060814		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060814C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.102C>A	4.37:g.189060814C>A	ENSP00000327738:p.Ser34Arg						p.S34R	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	242	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	34					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.102C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728697	0.69074	.	.	ENSG00000184108	ENST00000332517	T	0.08896	3.04	5.59	3.85	0.44370	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.64402	D	0.000006	T	0.16769	0.0403	L	0.41710	1.295	0.38623	D	0.951184	D	0.89917	1.0	D	0.80764	0.994	T	0.02214	-1.1194	10	0.87932	D	0	-32.7462	6.9135	0.24347	0.0:0.7398:0.0:0.2602	.	34	Q8N9V2	TRIML_HUMAN	R	34	ENSP00000327738:S34R	ENSP00000327738:S34R	S	+	3	2	TRIML1	189297808	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.064000	0.30579	1.515000	0.48885	0.655000	0.94253	AGC		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		76	115	1	0	1.32003e-40	1	1.48355e-40	76	115				
CPA2	1358	broad.mit.edu	37	7	129919385	129919385	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129919385G>T	ENST00000222481.4	+	9	925	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	290					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCCATAGTGGACTTCATCA	0.493																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(868-870)gtG>gtT		carboxypeptidase A2 (pancreatic)							119.0	109.0	112.0					7																	129919385		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129919385G>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.870G>T	7.37:g.129919385G>T							p.V290V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			9	925	+	Melanoma(18;0.0435)		290					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.870G>T	CCDS5817.2																																																																																				0.493	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		30	51	1	0	3.99451e-17	1	4.39387e-17	30	51				
DNMBP	23268	broad.mit.edu	37	10	101636968	101636968	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101636968C>T	ENST00000324109.4	-	17	4765	c.4674G>A	c.(4672-4674)gaG>gaA	p.E1558E	DNMBP_ENST00000540316.1_Silent_p.E494E|DNMBP_ENST00000342239.3_Silent_p.E1582E|DNMBP_ENST00000543621.1_Silent_p.E804E	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1558	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCCGTTAACCTCAGCTAACC	0.498																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4744-4746)gaG>gaA		dynamin binding protein							216.0	176.0	189.0					10																	101636968		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636968C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4674G>A	10.37:g.101636968C>T						DNMBP_ENST00000324109.4_Silent_p.E1558E|DNMBP_ENST00000543621.1_Silent_p.E804E|DNMBP_ENST00000540316.1_Silent_p.E494E	p.E1582E			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4837	-		Colorectal(252;0.234)	1558					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4746G>A	CCDS7485.1																																																																																				0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		41	63	0	0	0	1	0	41	63				
DUSP8	1850	broad.mit.edu	37	11	1579048	1579048	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1579048C>T	ENST00000397374.3	-	6	924	c.797G>A	c.(796-798)gGc>gAc	p.G266D	DUSP8_ENST00000331588.4_Missense_Mutation_p.G266D|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	266	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGAGGACATGCCCATGGTCTT	0.607																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(796-798)gGc>gAc		dual specificity phosphatase 8							137.0	122.0	127.0					11																	1579048		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579048C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.797G>A	11.37:g.1579048C>T	ENSP00000380530:p.Gly266Asp					DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.G266D	p.G266D	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	6	924	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	266			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.797G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435652	0.12104	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.63913	-0.07;-0.07	3.42	2.49	0.30216	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	U	0.000001	T	0.44350	0.1289	L	0.27053	0.805	0.58432	D	0.999999	B	0.27594	0.182	B	0.37091	0.241	T	0.25257	-1.0137	10	0.02654	T	1	.	7.4519	0.27244	0.0:0.7967:0.0:0.2033	.	266	Q13202	DUS8_HUMAN	D	266	ENSP00000380530:G266D;ENSP00000329539:G266D	ENSP00000329539:G266D	G	-	2	0	DUSP8	1535624	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.656000	0.54467	0.631000	0.30412	0.313000	0.20887	GGC		0.607	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		8	23	0	0	0	1	0	8	23				
IRF8	3394	broad.mit.edu	37	16	85946826	85946826	+	Silent	SNP	G	G	A	rs146360039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(535-537)gcG>gcA		interferon regulatory factor 8		G		8,4388	14.3+/-33.2	0,8,2190	65.0	69.0	68.0		537	-3.1	0.1	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRF8	NM_002163.2		0,9,6489	AA,AG,GG		0.0116,0.182,0.0693		179/427	85946826	9,12987	2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946826G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.537G>A	16.37:g.85946826G>A							p.A179A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	959	+		Prostate(104;0.0771)	179					A0AV82	Silent	SNP	ENST00000268638.5	37	c.537G>A	CCDS10956.1																																																																																				0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		8	34	0	0	0	1	0	8	34				
TBCK	93627	broad.mit.edu	37	4	107157635	107157635	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:107157635G>T	ENST00000273980.5	-	15	1709	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	TBCK_ENST00000394708.2_Missense_Mutation_p.S421Y|TBCK_ENST00000394706.3_Missense_Mutation_p.S382Y|TBCK_ENST00000432496.2_Missense_Mutation_p.S421Y|TBCK_ENST00000361687.4_Missense_Mutation_p.S358Y					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGCAGCTGCAGACAACTCATT	0.353																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1261-1263)tCt>tAt		TBC1 domain containing kinase							60.0	61.0	60.0					4																	107157635		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107157635G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1262C>A	4.37:g.107157635G>T	ENSP00000273980:p.Ser421Tyr					TBCK_ENST00000432496.2_Missense_Mutation_p.S421Y|TBCK_ENST00000361687.4_Missense_Mutation_p.S358Y|TBCK_ENST00000394708.2_Missense_Mutation_p.S421Y|TBCK_ENST00000394706.3_Missense_Mutation_p.S382Y	p.S421Y			Q8TEA7	TBCK_HUMAN			15	1709	-			421						Missense_Mutation	SNP	ENST00000273980.5	37	c.1262C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112746	0.77210	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.56769	1.78	0.80722	D	1	B;D;B	0.89917	0.226;1.0;0.335	B;D;B	0.76575	0.179;0.988;0.333	T	0.00050	-1.2197	10	0.52906	T	0.07	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	421;382;358	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	Y	421;421;358;382;421	ENSP00000273980:S421Y;ENSP00000405847:S421Y;ENSP00000355338:S358Y;ENSP00000378196:S382Y;ENSP00000378198:S421Y	ENSP00000273980:S421Y	S	-	2	0	TBCK	107377084	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.614000	0.98353	2.774000	0.95407	0.643000	0.83706	TCT		0.353	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		14	30	1	0	4.3838e-07	1	4.58243e-07	14	30				
FTH1P3	2498	broad.mit.edu	37	5	17354235	17354235	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:17354235G>A	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							ACACTCCATCGCATTCAGCCC	0.473																																						ENST00000511821.1																			0																																																			0							g.chr5:17354235G>A																													5.37:g.17354235G>A						FTH1P10_ENST00000401830.3_RNA								0	101	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.473	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			52	71	0	0	0	1	0	52	71				
NDST4	64579	broad.mit.edu	37	4	115997414	115997414	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:115997414A>G	ENST00000264363.2	-	2	1457	c.779T>C	c.(778-780)cTg>cCg	p.L260P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	260	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGAAGCCCCAGATCCTGAAT	0.433																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(778-780)cTg>cCg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							168.0	159.0	162.0					4																	115997414		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997414A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.779T>C	4.37:g.115997414A>G	ENSP00000264363:p.Leu260Pro						p.L260P	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1457	-		Ovarian(17;0.156)	260			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.779T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694905	0.68386	.	.	ENSG00000138653	ENST00000264363	T	0.38240	1.15	5.57	5.57	0.84162	.	0.128125	0.53938	D	0.000051	T	0.50922	0.1644	M	0.81239	2.535	0.80722	D	1	B	0.32893	0.389	B	0.42959	0.403	T	0.50448	-0.8827	10	0.34782	T	0.22	.	15.7319	0.77814	1.0:0.0:0.0:0.0	.	260	Q9H3R1	NDST4_HUMAN	P	260	ENSP00000264363:L260P	ENSP00000264363:L260P	L	-	2	0	NDST4	116216863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.281000	0.95811	2.109000	0.64355	0.482000	0.46254	CTG		0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		39	76	0	0	0	1	0	39	76				
HS2ST1	9653	broad.mit.edu	37	1	87538637	87538637	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87538637G>A	ENST00000370550.5	+	2	508	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HS2ST1_ENST00000370551.4_Missense_Mutation_p.E49K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E23K|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E23K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	49					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TGCAAGACACGAAGTCCGAGA	0.413																																						ENST00000370550.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9						c.(145-147)Gaa>Aaa		heparan sulfate 2-O-sulfotransferase 1							71.0	65.0	67.0					1																	87538637		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87538637G>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.145G>A	1.37:g.87538637G>A	ENSP00000359581:p.Glu49Lys					HS2ST1_ENST00000370551.4_Missense_Mutation_p.E49K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E23K|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E23K	p.E49K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	2	508	+		Lung NSC(277;0.153)	49					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.145G>A	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443467	0.63067	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.09	5.09	0.68999	.	0.095853	0.64402	D	0.000001	T	0.32912	0.0845	L	0.27053	0.805	0.80722	D	1	P;D	0.58268	0.491;0.982	B;P	0.44518	0.028;0.452	T	0.05241	-1.0897	9	0.28530	T	0.3	-2.9831	18.6951	0.91598	0.0:0.0:1.0:0.0	.	49;23	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	K	49;49;23;23	.	ENSP00000349268:E23K	E	+	1	0	HS2ST1	87311225	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.674000	0.83992	2.628000	0.89032	0.563000	0.77884	GAA		0.413	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		7	23	0	0	0	1	0	7	23				
TEX15	56154	broad.mit.edu	37	8	30703093	30703093	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30703093C>T	ENST00000256246.2	-	1	3515	c.3441G>A	c.(3439-3441)caG>caA	p.Q1147Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1147	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATAAACTGACTGACTTGTAC	0.413																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3439-3441)caG>caA		testis expressed 15							83.0	76.0	79.0					8																	30703093		2203	4299	6502	SO:0001819	synonymous_variant	56154							g.chr8:30703093C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3441G>A	8.37:g.30703093C>T							p.Q1147Q	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3515	-			1147			Ser-rich.			Silent	SNP	ENST00000256246.2	37	c.3441G>A	CCDS6080.1																																																																																				0.413	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			22	31	0	0	0	1	0	22	31				
FBXO43	286151	broad.mit.edu	37	8	101154164	101154164	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101154164C>T	ENST00000428847.2	-	2	634	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	106					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTCAGGGTGCTCATAGAGTA	0.363																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(316-318)gaG>gaA		F-box protein 43							101.0	93.0	95.0					8																	101154164		1811	4069	5880	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101154164C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.318G>A	8.37:g.101154164C>T							p.E106E	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	634	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		106						Silent	SNP	ENST00000428847.2	37	c.318G>A	CCDS47904.1																																																																																				0.363	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		18	45	0	0	0	1	0	18	45				
CDAN1	146059	broad.mit.edu	37	15	43017403	43017403	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43017403A>G	ENST00000356231.3	-	27	3520	c.3497T>C	c.(3496-3498)cTg>cCg	p.L1166P		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1166					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCGTCCCATCAGACCCTTCTC	0.582																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(3496-3498)cTg>cCg		codanin 1							68.0	63.0	65.0					15																	43017403		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43017403A>G	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3497T>C	15.37:g.43017403A>G	ENSP00000348564:p.Leu1166Pro						p.L1166P	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	27	3520	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1166					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.3497T>C	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430767	0.83776	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.92249	-3.0	6.07	6.07	0.98685	.	0.126094	0.53938	D	0.000046	D	0.95516	0.8543	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95798	0.8830	10	0.87932	D	0	-12.5414	14.5809	0.68288	1.0:0.0:0.0:0.0	.	1166;1164	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	P	1166;1164	ENSP00000348564:L1166P	ENSP00000267892:L1164P	L	-	2	0	CDAN1	40804695	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.331000	0.72929	2.326000	0.78906	0.533000	0.62120	CTG		0.582	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	18	0	0	0	1	0	6	18				
CEP250	11190	broad.mit.edu	37	20	34067059	34067059	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34067059C>T	ENST00000397527.1	+	18	2818	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700C|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	700	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCTCAGTCACGTCACCAGCA	0.587																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2098-2100)Cgt>Tgt		centrosomal protein 250kDa							66.0	58.0	60.0					20																	34067059		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34067059C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2098C>T	20.37:g.34067059C>T	ENSP00000380661:p.Arg700Cys					RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R700C|RP3-477O4.14_ENST00000416260.1_RNA	p.R700C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		18	2818	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		700			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2098C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595271	0.28445	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10005	2.92;2.94	5.04	-1.29	0.09288	.	1.909510	0.01844	N	0.035473	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38845	-0.9642	10	0.38643	T	0.18	.	10.2081	0.43124	0.0:0.4315:0.0:0.5685	.	700	Q9BV73	CP250_HUMAN	C	700	ENSP00000380661:R700C;ENSP00000341541:R700C	ENSP00000341541:R700C	R	+	1	0	CEP250	33530473	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.110000	0.15437	-0.385000	0.07833	-0.136000	0.14681	CGT		0.587	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		8	17	0	0	0	1	0	8	17				
ITGB4	3691	broad.mit.edu	37	17	73729624	73729624	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73729624G>A	ENST00000200181.3	+	13	1695	c.1508G>A	c.(1507-1509)tGc>tAc	p.C503Y	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.C503Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.C503Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.C503Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	503	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCAGCCCTGCCTGCGGGAG	0.642																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1507-1509)tGc>tAc		integrin, beta 4							44.0	39.0	41.0					17																	73729624		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729624G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1508G>A	17.37:g.73729624G>A	ENSP00000200181:p.Cys503Tyr					ITGB4_ENST00000579662.1_Missense_Mutation_p.C503Y|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.C503Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.C503Y	p.C503Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1695	+	all_cancers(13;1.5e-07)		503			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1508G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352952	0.41700	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.81908	-1.55;-1.51;-1.51	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.996	D;D;D;D;D	0.85130	0.986;0.997;0.957;0.935;0.935	D	0.96970	0.9708	10	0.87932	D	0	.	17.4028	0.87465	0.0:0.0:1.0:0.0	.	463;503;503;503;503	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	Y	419;503;503;503	ENSP00000200181:C503Y;ENSP00000344079:C503Y;ENSP00000400217:C503Y	ENSP00000200181:C503Y	C	+	2	0	ITGB4	71241219	1.000000	0.71417	0.982000	0.44146	0.811000	0.45836	8.459000	0.90367	2.202000	0.70862	0.555000	0.69702	TGC		0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			9	24	0	0	0	1	0	9	24				
ZNF592	9640	broad.mit.edu	37	15	85345395	85345395	+	Missense_Mutation	SNP	C	C	T	rs369443891		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85345395C>T	ENST00000560079.2	+	11	3863	c.3575C>T	c.(3574-3576)gCg>gTg	p.A1192V	ZNF592_ENST00000299927.3_Missense_Mutation_p.A1192V	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1192					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			gCGGCGGCAGCGGAGATGGCA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.001					ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3574-3576)gCg>gTg		zinc finger protein 592		C	VAL/ALA	1,4393		0,1,2196	11.0	13.0	13.0		3575	-3.5	0.0	15		13	0,8530		0,0,4265	no	missense	ZNF592	NM_014630.2	64	0,1,6461	TT,TC,CC		0.0,0.0228,0.0077	benign	1192/1268	85345395	1,12923	2197	4265	6462	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345395C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3575C>T	15.37:g.85345395C>T	ENSP00000452877:p.Ala1192Val					ZNF592_ENST00000560079.2_Missense_Mutation_p.A1192V	p.A1192V			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3597	+			1192					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3575C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365626	0.01235	2.28E-4	0.0	ENSG00000166716	ENST00000299927	T	0.00622	6.16	3.27	-3.49	0.04724	.	.	.	.	.	T	0.00468	0.0015	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40905	-0.9538	9	0.27785	T	0.31	-0.3426	3.9788	0.09486	0.1612:0.326:0.0:0.5128	.	1192	Q92610	ZN592_HUMAN	V	1192	ENSP00000299927:A1192V	ENSP00000299927:A1192V	A	+	2	0	ZNF592	83146399	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.703000	0.05063	-0.339000	0.08401	-0.749000	0.03505	GCG		0.622	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		8	7	0	0	0	1	0	8	7				
PCDH18	54510	broad.mit.edu	37	4	138442183	138442183	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:138442183C>T	ENST00000344876.4	-	4	3794	c.3408G>A	c.(3406-3408)taG>taA	p.*1136*	PCDH18_ENST00000510305.1_Silent_p.*347*|PCDH18_ENST00000507846.1_Silent_p.*915*|PCDH18_ENST00000511115.1_Silent_p.*316*|PCDH18_ENST00000412923.2_Silent_p.*1135*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	0					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTAAAATCTCCTAGCTCTGGC	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3406-3408)taG>taA		protocadherin 18							48.0	46.0	47.0					4																	138442183		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442183C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3408G>A	4.37:g.138442183C>T						PCDH18_ENST00000412923.2_Silent_p.*1135*|PCDH18_ENST00000507846.1_Silent_p.*915*|PCDH18_ENST00000510305.1_Silent_p.*347*|PCDH18_ENST00000511115.1_Silent_p.*316*	p.*1136*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3794	-	all_hematologic(180;0.24)		0					A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.3408G>A	CCDS34064.1																																																																																				0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	29	0	0	0	1	0	16	29				
OR51T1	401665	broad.mit.edu	37	11	4903923	4903923	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4903923G>A	ENST00000322049.1	+	1	794	c.794G>A	c.(793-795)cGc>cAc	p.R265H	OR51T1_ENST00000380378.1_Missense_Mutation_p.R292H|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, 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)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCACACCGCCTCTTCCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(874-876)cGc>cAc		olfactory receptor, family 51, subfamily T, member 1							113.0	97.0	103.0					11																	4903923		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903923G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.794G>A	11.37:g.4903923G>A	ENSP00000322679:p.Arg265His					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R265H|MMP26_ENST00000380390.1_Intron	p.R292H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	875	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.875G>A		.	.	.	.	.	.	.	.	.	.	G	13.04	2.118595	0.37436	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.37235	1.21;1.21	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000408	T	0.66538	0.2799	M	0.88775	2.98	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63659	-0.6587	10	0.72032	D	0.01	.	16.955	0.86257	0.0:0.0:1.0:0.0	.	265	Q8NGJ9	O51T1_HUMAN	H	292;265	ENSP00000369738:R292H;ENSP00000322679:R265H	ENSP00000322679:R265H	R	+	2	0	OR51T1	4860499	0.003000	0.15002	0.423000	0.26634	0.203000	0.24098	1.351000	0.34022	2.595000	0.87683	0.491000	0.48974	CGC		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		25	23	0	0	0	1	0	25	23				
INTS8	55656	broad.mit.edu	37	8	95839603	95839603	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95839603G>A	ENST00000523731.1	+	3	551	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	INTS8_ENST00000447247.1_Missense_Mutation_p.A140T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	140					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCGACCACTGCCATGGCTGT	0.413																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(418-420)Gcc>Acc		integrator complex subunit 8							157.0	151.0	153.0					8																	95839603		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95839603G>A	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.418G>A	8.37:g.95839603G>A	ENSP00000430338:p.Ala140Thr					INTS8_ENST00000447247.1_Missense_Mutation_p.A140T	p.A140T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			3	551	+	Breast(36;1.05e-06)		140					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.418G>A	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.487320|3.487320	0.63962|0.63962	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000522171;ENST00000519053;ENST00000523731;ENST00000447247|ENST00000521860	.|.	.|.	.|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	0.091701|.	0.85682|.	D|.	0.000000|.	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.38531|0.38531	1.155|1.155	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.51795|0.51795	-0.8660|-0.8660	9|5	0.24483|.	T|.	0.36|.	-5.1953|-5.1953	15.8758|15.8758	0.79159|0.79159	0.0652:0.0:0.9348:0.0|0.0652:0.0:0.9348:0.0	.|.	140;140|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	T|Y	99;31;140;140|127	.|.	ENSP00000343274:A140T|.	A|C	+|+	1|2	0|0	INTS8|INTS8	95908779|95908779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.610000|4.610000	0.61155|0.61155	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.413	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		53	98	0	0	0	1	0	53	98				
OBSCN	84033	broad.mit.edu	37	1	228412316	228412316	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228412316G>A	ENST00000422127.1	+	9	2854	c.2810G>A	c.(2809-2811)tGc>tAc	p.C937Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.C937Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.C1029Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	937	Ig-like 9.			CM -> HV (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGAAAGTGTGCATGGAGGCC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3085-3087)tGc>tAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							55.0	56.0	56.0					1																	228412316		2109	4223	6332	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228412316G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2810G>A	1.37:g.228412316G>A	ENSP00000409493:p.Cys937Tyr					OBSCN_ENST00000284548.11_Missense_Mutation_p.C937Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C937Y	p.C1029Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			10	3160	+		Prostate(94;0.0405)	1029			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3086G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	0.095	-1.161170	0.01673	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66460	-0.21;-0.21	4.51	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.980746	0.08333	N	0.961999	T	0.43765	0.1262	N	0.02315	-0.6	0.09310	N	0.999998	B;B	0.29432	0.244;0.1	B;B	0.38755	0.281;0.05	T	0.42982	-0.9419	10	0.16896	T	0.51	.	10.9828	0.47506	0.5055:0.0:0.4945:0.0	.	937;937	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	937	ENSP00000284548:C937Y;ENSP00000409493:C937Y	ENSP00000284548:C937Y	C	+	2	0	OBSCN	226478939	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.138000	0.10374	-0.023000	0.13963	-0.345000	0.07892	TGC		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	21	0	0	0	1	0	14	21				
UAP1L1	91373	broad.mit.edu	37	9	139975224	139975224	+	Missense_Mutation	SNP	G	G	A	rs546839127		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139975224G>A	ENST00000409858.3	+	7	1294	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	UAP1L1_ENST00000360271.3_Missense_Mutation_p.R298H	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	421							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GACAGTCCCCGCACCGCTCGC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16299	0.0		0.0	False		,,,				2504	0.0					ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1261-1263)cGc>cAc		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							51.0	55.0	54.0					9																	139975224		2201	4300	6501	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139975224G>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1262G>A	9.37:g.139975224G>A	ENSP00000386935:p.Arg421His					UAP1L1_ENST00000360271.3_Missense_Mutation_p.R298H	p.R421H	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1294	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	421					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.1262G>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321782	0.41096	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17370	2.28;2.28	4.09	3.18	0.36537	.	0.360556	0.30020	N	0.010613	T	0.13030	0.0316	N	0.19112	0.55	0.23483	N	0.997587	P;P	0.51791	0.73;0.948	B;B	0.44044	0.154;0.439	T	0.06789	-1.0807	10	0.51188	T	0.08	.	12.3806	0.55305	0.0:0.8045:0.1955:0.0	.	421;298	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	H	421;298	ENSP00000386935:R421H;ENSP00000353409:R298H	ENSP00000353409:R298H	R	+	2	0	UAP1L1	139095045	0.761000	0.28439	0.003000	0.11579	0.002000	0.02628	1.985000	0.40668	0.690000	0.31570	0.467000	0.42956	CGC		0.677	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		12	26	0	0	0	1	0	12	26				
TOPBP1	11073	broad.mit.edu	37	3	133356748	133356748	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133356748T>C	ENST00000260810.5	-	14	2623	c.2492A>G	c.(2491-2493)aAa>aGa	p.K831R		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	831					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTGAAGAGTTTGTCCTTGGA	0.463								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2491-2493)aAa>aGa	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							145.0	147.0	146.0					3																	133356748		1952	4129	6081	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133356748T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2492A>G	3.37:g.133356748T>C	ENSP00000260810:p.Lys831Arg						p.K831R	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			14	2623	-			831					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2492A>G	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509932	0.64522	.	.	ENSG00000163781	ENST00000260810	T	0.24350	1.86	5.93	5.93	0.95920	.	0.196193	0.48767	D	0.000174	T	0.25232	0.0613	L	0.48362	1.52	0.46011	D	0.998817	P	0.36733	0.567	B	0.34873	0.191	T	0.02202	-1.1196	10	0.29301	T	0.29	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	831	Q92547	TOPB1_HUMAN	R	831	ENSP00000260810:K831R	ENSP00000260810:K831R	K	-	2	0	TOPBP1	134839438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	AAA		0.463	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		27	45	0	0	0	1	0	27	45				
TMPRSS9	360200	broad.mit.edu	37	19	2408468	2408468	+	Silent	SNP	C	C	T	rs368841376		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2408468C>T	ENST00000332578.3	+	7	855	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	285	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGTACAACGCGGACACGG	0.677																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(853-855)aaC>aaT		transmembrane protease, serine 9		C		0,4406		0,0,2203	111.0	95.0	101.0		855	-0.3	0.0	19		101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TMPRSS9	NM_182973.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		285/1060	2408468	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408468C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.855C>T	19.37:g.2408468C>T							p.N285N	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	855	+			285			Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.855C>T	CCDS12088.1																																																																																				0.677	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		25	42	0	0	0	1	0	25	42				
CADM1	23705	broad.mit.edu	37	11	115099882	115099882	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:115099882G>A	ENST00000452722.3	-	5	692	c.672C>T	c.(670-672)caC>caT	p.H224H	CADM1_ENST00000331581.6_Silent_p.H224H|CADM1_ENST00000542447.2_Silent_p.H224H|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.H224H|CADM1_ENST00000536727.1_Silent_p.H224H	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGACCGCAGGGTGCTCCACCT	0.532																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(670-672)caC>caT		cell adhesion molecule 1							99.0	74.0	83.0					11																	115099882		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115099882G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.672C>T	11.37:g.115099882G>A						CADM1_ENST00000537058.1_Silent_p.H224H|CADM1_ENST00000452722.2_Silent_p.H224H|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.H224H|CADM1_ENST00000331581.6_Silent_p.H224H	p.H224H	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	5	800	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	224			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.672C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104437	0.20632	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	4.3	0.51218	.	.	.	.	.	T	0.61862	0.2381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	.	10.4617	0.44583	0.1988:0.0:0.8011:0.0	.	.	.	.	S	223	.	.	P	-	1	0	CADM1	114605092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.059000	0.41384	0.930000	0.37217	-0.136000	0.14681	CCC		0.532	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		25	35	0	0	0	1	0	25	35				
PHKG2	5261	broad.mit.edu	37	16	30768239	30768239	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30768239C>T	ENST00000563588.1	+	10	1281	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	PHKG2_ENST00000328273.7_Missense_Mutation_p.H352Y|PHKG2_ENST00000424889.3_Missense_Mutation_p.H348Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	348	Calmodulin-binding (domain-C). {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			GTCAGTGCGGCACCTCATCGA	0.627																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(1042-1044)Cac>Tac		phosphorylase kinase, gamma 2 (testis)							112.0	100.0	104.0					16																	30768239		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30768239C>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1042C>T	16.37:g.30768239C>T	ENSP00000455607:p.His348Tyr					PHKG2_ENST00000424889.3_Missense_Mutation_p.H348Y|PHKG2_ENST00000328273.7_Missense_Mutation_p.H352Y	p.H348Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		10	1281	+			348			Calmodulin-binding (domain-C) (By similarity).		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.1042C>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.803011	0.50315	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T	0.32023	1.47	6.07	5.12	0.69794	Protein kinase-like domain (1);	0.157480	0.31685	N	0.007228	T	0.15869	0.0382	N	0.08118	0	0.09310	N	0.999994	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.13415	-1.0510	10	0.87932	D	0	-2.8149	7.7562	0.28925	0.2549:0.6689:0.0:0.0762	.	348;348	P15735;P15735-2	PHKG2_HUMAN;.	Y	348	ENSP00000388571:H348Y	ENSP00000329968:H348Y	H	+	1	0	PHKG2	30675740	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.447000	0.60020	1.584000	0.49913	0.655000	0.94253	CAC		0.627	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		34	58	0	0	0	1	0	34	58				
BNIPL	149428	broad.mit.edu	37	1	151016175	151016175	+	Missense_Mutation	SNP	C	C	T	rs139447919	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151016175C>T	ENST00000368931.3	+	7	979	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	BNIPL_ENST00000295294.7_Missense_Mutation_p.R193C	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	275	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGCTGGATACGTCAGTGTTA	0.478																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(577-579)Cgt>Tgt		BCL2/adenovirus E1B 19kD interacting protein like		C	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	112.0	100.0	104.0		577,823	4.2	1.0	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	193/276,275/358	151016175	4,13002	2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151016175C>T	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.823C>T	1.37:g.151016175C>T	ENSP00000357927:p.Arg275Cys					BNIPL_ENST00000368931.3_Missense_Mutation_p.R275C	p.R193C	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	1186	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		275			CRAL-TRIO.		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.577C>T	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462589	0.63513	9.08E-4	0.0	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.28895	1.59;1.59;1.59	5.13	4.19	0.49359	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.128359	0.48286	D	0.000188	T	0.34861	0.0912	L	0.55481	1.735	0.30366	N	0.783316	D	0.89917	1.0	D	0.78314	0.991	T	0.21415	-1.0246	10	0.87932	D	0	.	10.5007	0.44804	0.3525:0.6475:0.0:0.0	.	275	Q7Z465	BNIPL_HUMAN	C	275;273;193	ENSP00000357927:R275C;ENSP00000355333:R273C;ENSP00000295294:R193C	ENSP00000295294:R193C	R	+	1	0	BNIPL	149282799	0.000000	0.05858	0.986000	0.45419	0.980000	0.70556	0.195000	0.17155	1.333000	0.45449	0.561000	0.74099	CGT		0.478	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		19	31	0	0	0	1	0	19	31				
TGM2	7052	broad.mit.edu	37	20	36770599	36770599	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36770599G>A	ENST00000361475.2	-	7	1035	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	TGM2_ENST00000536701.1_Silent_p.L207L|TGM2_ENST00000536724.1_Silent_p.L228L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	288					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCACCTCAGCACTGTTGGA	0.587																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(862-864)Ctg>Ttg		transglutaminase 2	L-Glutamine(DB00130)						157.0	127.0	137.0					20																	36770599		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36770599G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.862C>T	20.37:g.36770599G>A						TGM2_ENST00000536724.1_Silent_p.L228L|TGM2_ENST00000536701.1_Silent_p.L207L	p.L288L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			7	1035	-		Myeloproliferative disorder(115;0.00878)	288					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.862C>T	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		10	26	0	0	0	1	0	10	26				
MCC	4163	broad.mit.edu	37	5	112384868	112384868	+	Silent	SNP	G	G	A	rs577022580		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112384868G>A	ENST00000302475.4	-	14	2570	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S606S|MCC_ENST00000408903.3_Silent_p.S859S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	669					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCCACCTCGGACTTCAGGT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21345	0.0		0.0	False		,,,				2504	0.0					ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2005-2007)tcC>tcT		mutated in colorectal cancers							84.0	68.0	73.0					5																	112384868		2202	4300	6502	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112384868G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2007C>T	5.37:g.112384868G>A						MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S606S|MCC_ENST00000408903.3_Silent_p.S859S	p.S669S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	14	2570	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	669					D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	c.2007C>T	CCDS4111.1																																																																																				0.617	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		23	31	0	0	0	1	0	23	31				
HOXA3	3200	broad.mit.edu	37	7	27148262	27148262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27148262G>A	ENST00000396352.4	-	3	803	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Nonsense_Mutation_p.Q202*|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	202					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TCCACCAGCTGCGCGCTCGTG	0.657																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(604-606)Cag>Tag		homeobox A3							59.0	59.0	59.0					7																	27148262		2203	4300	6503	SO:0001587	stop_gained	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148262G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.604C>T	7.37:g.27148262G>A	ENSP00000379640:p.Gln202*					HOXA3_ENST00000317201.2_Nonsense_Mutation_p.Q202*|HOXA-AS2_ENST00000518088.1_RNA	p.Q202*	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	803	-			202					A4D181	Nonsense_Mutation	SNP	ENST00000396352.4	37	c.604C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	38	7.124067	0.98081	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	.	.	.	5.03	5.03	0.67393	.	0.054737	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	.	.	.	X	202;202;44	.	ENSP00000324884:Q202X	Q	-	1	0	HOXA3	27114787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.629000	0.98417	2.620000	0.88729	0.655000	0.94253	CAG		0.657	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			31	57	0	0	0	1	0	31	57				
MLKL	197259	broad.mit.edu	37	16	74708915	74708915	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74708915G>A	ENST00000308807.7	-	10	1787	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W	MLKL_ENST00000306247.7_Missense_Mutation_p.R234W	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATGATCTCCCGCAGCTCTGAA	0.552																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1324-1326)Cgg>Tgg		mixed lineage kinase domain-like							56.0	57.0	57.0					16																	74708915		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74708915G>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1324C>T	16.37:g.74708915G>A	ENSP00000308351:p.Arg442Trp					MLKL_ENST00000306247.7_Missense_Mutation_p.R234W	p.R442W	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			10	1787	-			442			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1324C>T	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272218	0.40194	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	D;T	0.82984	-1.67;0.89	4.83	1.5	0.22942	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.109350	0.06659	N	0.764140	D	0.87779	0.6263	L	0.61387	1.9	0.28961	N	0.889833	D;D	0.76494	0.998;0.999	P;D	0.63793	0.666;0.918	T	0.74887	-0.3511	10	0.87932	D	0	-2.8752	6.9426	0.24500	0.0:0.1726:0.4719:0.3555	.	234;442	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	W	442;234	ENSP00000308351:R442W;ENSP00000303118:R234W	ENSP00000303118:R234W	R	-	1	2	MLKL	73266416	0.858000	0.29795	0.606000	0.28943	0.102000	0.19082	0.174000	0.16743	0.701000	0.31803	0.393000	0.25936	CGG		0.552	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		12	31	0	0	0	1	0	12	31				
FRMPD3	84443	broad.mit.edu	37	X	106769852	106769852	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:106769852G>A	ENST00000276185.4	+	3	133	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	45						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TATGGAATGTGAGCAGCTGCC	0.527																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(133-135)Gag>Aag		FERM and PDZ domain containing 3							94.0	82.0	85.0					X																	106769852		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106769852G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.133G>A	X.37:g.106769852G>A	ENSP00000276185:p.Glu45Lys					FRMPD3-AS1_ENST00000415252.1_RNA	p.E45K			Q5JV73	FRPD3_HUMAN			3	133	+			45					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.133G>A		.	.	.	.	.	.	.	.	.	.	G	16.37	3.103894	0.56291	.	.	ENSG00000147234	ENST00000276185	T	0.14391	2.51	4.68	4.68	0.58851	.	0.350840	0.10575	U	0.658678	T	0.11580	0.0282	N	0.08118	0	0.26829	N	0.968611	.	.	.	.	.	.	T	0.37009	-0.9724	8	0.39692	T	0.17	.	15.9384	0.79734	0.0:0.0:1.0:0.0	.	.	.	.	K	45	ENSP00000276185:E45K	ENSP00000276185:E45K	E	+	1	0	FRMPD3	106656508	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.940000	0.87693	2.261000	0.74972	0.600000	0.82982	GAG		0.527	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		26	7	0	0	0	1	0	26	7				
DNAH1	25981	broad.mit.edu	37	3	52380666	52380666	+	Missense_Mutation	SNP	G	G	A	rs371402883		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52380666G>A	ENST00000420323.2	+	11	2096	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	612	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACACACTGCGCTTCCTGGTG	0.567																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1834-1836)cGc>cAc		dynein, axonemal, heavy chain 1		G	HIS/ARG	1,4351		0,1,2175	85.0	89.0	88.0		1835	4.4	1.0	3		88	0,8558		0,0,4279	no	missense	DNAH1	NM_015512.4	29	0,1,6454	AA,AG,GG		0.0,0.023,0.0077	probably-damaging	612/4266	52380666	1,12909	2176	4279	6455	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380666G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1835G>A	3.37:g.52380666G>A	ENSP00000401514:p.Arg612His						p.R612H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	2096	+			612			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1835G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439608	0.83885	2.3E-4	0.0	ENSG00000114841	ENST00000420323	T	0.27256	1.68	4.44	4.44	0.53790	.	0.000000	0.44483	D	0.000444	T	0.56093	0.1962	M	0.86953	2.85	0.49130	D	0.999754	D;D	0.89917	1.0;1.0	D;D	0.83275	0.968;0.996	T	0.61252	-0.7100	10	0.33141	T	0.24	.	17.0712	0.86574	0.0:0.0:1.0:0.0	.	612;612	C9JXH6;Q9P2D7-3	.;.	H	612	ENSP00000401514:R612H	ENSP00000401514:R612H	R	+	2	0	DNAH1	52355706	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.961000	0.76042	2.035000	0.60131	0.557000	0.71058	CGC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	23	0	0	0	1	0	17	23				
ADAMTS14	140766	broad.mit.edu	37	10	72489064	72489064	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72489064C>T	ENST00000373207.1	+	5	885	c.885C>T	c.(883-885)taC>taT	p.Y295Y	ADAMTS14_ENST00000373208.1_Silent_p.Y295Y	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGAGATTTACCACGATGAGT	0.468																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(883-885)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							114.0	109.0	110.0					10																	72489064		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489064C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.885C>T	10.37:g.72489064C>T						ADAMTS14_ENST00000373207.1_Silent_p.Y295Y	p.Y295Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			5	885	+			295			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.885C>T	CCDS7306.1																																																																																				0.468	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		24	50	0	0	0	1	0	24	50				
LLGL2	3993	broad.mit.edu	37	17	73569164	73569164	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73569164C>T	ENST00000392550.3	+	20	2647	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	LLGL2_ENST00000577200.1_Missense_Mutation_p.R844W|LLGL2_ENST00000167462.5_Missense_Mutation_p.R844W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	844					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R844W(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCAAGAGTGCGGCGGGTCAG	0.642																																						ENST00000392550.3																			2	Substitution - Missense(2)	p.R844W(2)	endometrium(2)	NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2530-2532)Cgg>Tgg		lethal giant larvae homolog 2 (Drosophila)							48.0	42.0	44.0					17																	73569164		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569164C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2530C>T	17.37:g.73569164C>T	ENSP00000376333:p.Arg844Trp					LLGL2_ENST00000167462.5_Missense_Mutation_p.R844W|LLGL2_ENST00000577200.1_Missense_Mutation_p.R844W	p.R844W	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2647	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		844					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2530C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	6.977	0.550372	0.13374	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.06294	3.32;3.43	4.63	3.65	0.41850	.	0.056427	0.64402	D	0.000001	T	0.26412	0.0645	M	0.81802	2.56	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.96;0.982;0.998;0.998	T	0.07443	-1.0772	10	0.87932	D	0	-0.3776	14.8571	0.70347	0.143:0.857:0.0:0.0	.	471;833;833;844;844	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	W	844;844;833	ENSP00000167462:R844W;ENSP00000376333:R844W	ENSP00000167462:R844W	R	+	1	2	LLGL2	71080759	1.000000	0.71417	0.974000	0.42286	0.127000	0.20565	2.329000	0.43876	1.153000	0.42468	-1.348000	0.01239	CGG		0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		5	14	0	0	0	1	0	5	14				
C2orf49	79074	broad.mit.edu	37	2	105959571	105959571	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105959571C>T	ENST00000258457.2	+	3	762	c.533C>T	c.(532-534)aCg>aTg	p.T178M	C2orf49_ENST00000437250.2_Missense_Mutation_p.T174M|C2orf49_ENST00000410049.1_Missense_Mutation_p.T136M			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	178					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CATGACTTAACGCATAGGAAA	0.438																																						ENST00000258457.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(532-534)aCg>aTg		chromosome 2 open reading frame 49							120.0	113.0	116.0					2																	105959571		2203	4300	6503	SO:0001583	missense	79074					tRNA-splicing ligase complex		g.chr2:105959571C>T	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.533C>T	2.37:g.105959571C>T	ENSP00000258457:p.Thr178Met					C2orf49_ENST00000437250.2_Missense_Mutation_p.T174M|C2orf49_ENST00000410049.1_Missense_Mutation_p.T136M	p.T178M			Q9BVC5	ASHWN_HUMAN			3	762	+			178					B3KXN3|B4E2G9	Missense_Mutation	SNP	ENST00000258457.2	37	c.533C>T	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	9.550	1.115566	0.20795	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.45668	1.0;0.89;0.89	5.62	-2.82	0.05787	.	1.145180	0.06057	N	0.657645	T	0.13756	0.0333	N	0.02011	-0.69	0.20821	N	0.999849	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.14671	-1.0464	10	0.23302	T	0.38	0.1617	1.8432	0.03154	0.1166:0.208:0.2921:0.3834	.	174;178	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	M	178;174;136	ENSP00000258457:T178M;ENSP00000400208:T174M;ENSP00000386361:T136M	ENSP00000258457:T178M	T	+	2	0	C2orf49	105326003	0.039000	0.19947	0.677000	0.29947	0.962000	0.63368	-0.034000	0.12225	-0.180000	0.10637	-0.781000	0.03364	ACG		0.438	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093		24	51	0	0	0	1	0	24	51				
ADAMTS17	170691	broad.mit.edu	37	15	100802623	100802623	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100802623C>T	ENST00000268070.4	-	5	912	c.807G>A	c.(805-807)caG>caA	p.Q269Q	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCTCTGGTGCTGAAACATAT	0.383																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(805-807)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 17							109.0	108.0	108.0					15																	100802623		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100802623C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.807G>A	15.37:g.100802623C>T							p.Q269Q	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	5	912	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		269			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.807G>A	CCDS10383.1																																																																																				0.383	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		34	53	0	0	0	1	0	34	53				
PACS1	55690	broad.mit.edu	37	11	65978665	65978665	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65978665C>T	ENST00000320580.4	+	4	628	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	199				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGGAGAAAACGTTACAAGAA	0.483																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(595-597)Cgt>Tgt		phosphofurin acidic cluster sorting protein 1							221.0	188.0	199.0					11																	65978665		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65978665C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.595C>T	11.37:g.65978665C>T	ENSP00000316454:p.Arg199Cys						p.R199C	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			4	628	+			199	Missing (in Ref. 2; BAC04831).				Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.595C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058214	0.36277	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.37584	1.19	5.09	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.64732	-0.6338	10	0.87932	D	0	-12.2263	8.1856	0.31337	0.1556:0.7609:0.0:0.0835	.	199;199	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	C	199;96;101	ENSP00000316454:R199C	ENSP00000316454:R199C	R	+	1	0	PACS1	65735241	1.000000	0.71417	0.999000	0.59377	0.805000	0.45488	1.114000	0.31196	2.659000	0.90383	0.313000	0.20887	CGT		0.483	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		8	142	0	0	0	1	0	8	142				
RELN	5649	broad.mit.edu	37	7	103322655	103322655	+	Silent	SNP	G	G	A	rs199686580		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103322655G>A	ENST00000428762.1	-	11	1356	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	RELN_ENST00000424685.2_Silent_p.S399S|RELN_ENST00000343529.5_Silent_p.S399S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	399					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTGAACTCGCTGCCTTCAT	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1195-1197)agC>agT		reelin							148.0	139.0	142.0					7																	103322655		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322655G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1197C>T	7.37:g.103322655G>A						RELN_ENST00000343529.5_Silent_p.S399S|RELN_ENST00000428762.1_Silent_p.S399S	p.S399S			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1356	-			399					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1197C>T	CCDS47680.1																																																																																				0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		27	46	0	0	0	1	0	27	46				
MYO5A	4644	broad.mit.edu	37	15	52664539	52664539	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52664539C>T	ENST00000399231.3	-	21	2842	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	MYO5A_ENST00000399233.2_Missense_Mutation_p.V867I|MYO5A_ENST00000356338.6_Missense_Mutation_p.V867I|MYO5A_ENST00000553916.1_Missense_Mutation_p.V867I|MYO5A_ENST00000358212.6_Missense_Mutation_p.V867I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	867	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAATGATGACTGCTTTGTGC	0.502																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2599-2601)Gtc>Atc		myosin VA (heavy chain 12, myoxin)							42.0	40.0	41.0					15																	52664539		2036	4186	6222	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664539C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2599G>A	15.37:g.52664539C>T	ENSP00000382177:p.Val867Ile					MYO5A_ENST00000356338.6_Missense_Mutation_p.V867I|MYO5A_ENST00000358212.6_Missense_Mutation_p.V867I|MYO5A_ENST00000399233.2_Missense_Mutation_p.V867I|MYO5A_ENST00000553916.1_Missense_Mutation_p.V867I	p.V867I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2842	-			867			IQ 5.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2599G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246900	0.39697	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.77	1.8	0.24995	.	0.380172	0.30085	N	0.010444	T	0.12050	0.0293	L	0.28694	0.88	0.36184	D	0.849618	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.22730	-1.0208	10	0.07325	T	0.83	.	10.0768	0.42366	0.0:0.5593:0.0:0.4407	.	867;867	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	I	867;401;867;867;867;497;867	ENSP00000382177:V867I;ENSP00000382179:V867I;ENSP00000348693:V867I;ENSP00000350945:V867I;ENSP00000451109:V867I	ENSP00000348693:V867I	V	-	1	0	MYO5A	50451831	0.055000	0.20627	0.995000	0.50966	0.998000	0.95712	0.544000	0.23253	0.469000	0.27268	0.650000	0.86243	GTC		0.502	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	32	0	0	0	1	0	7	32				
SCTR	6344	broad.mit.edu	37	2	120210887	120210887	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:120210887G>A	ENST00000019103.5	-	8	1094	c.827C>T	c.(826-828)gCc>gTc	p.A276V		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	276					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAAGTGTCTGGCAATAGCCCA	0.423																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(826-828)gCc>gTc		secretin receptor	Secretin(DB00021)						83.0	76.0	78.0					2																	120210887		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120210887G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.827C>T	2.37:g.120210887G>A	ENSP00000019103:p.Ala276Val						p.A276V	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			8	1094	-			276					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.827C>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.742786	0.00675	.	.	ENSG00000080293	ENST00000019103	T	0.39406	1.08	4.52	1.62	0.23740	GPCR, family 2-like (1);	0.584870	0.16249	N	0.222811	T	0.19005	0.0456	N	0.10945	0.07	0.09310	N	1	B	0.12630	0.006	B	0.23018	0.043	T	0.31052	-0.9957	10	0.02654	T	1	.	8.9135	0.35568	0.0802:0.3008:0.6191:0.0	.	276	P47872	SCTR_HUMAN	V	276	ENSP00000019103:A276V	ENSP00000019103:A276V	A	-	2	0	SCTR	119927357	0.699000	0.27786	0.817000	0.32601	0.044000	0.14063	1.221000	0.32503	0.218000	0.20820	0.655000	0.94253	GCC		0.423	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			16	33	0	0	0	1	0	16	33				
SLC46A1	113235	broad.mit.edu	37	17	26731754	26731754	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26731754C>T	ENST00000440501.1	-	2	1056	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.A321T	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	321					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AGCTTCAGGGCCAGCAGGCTG	0.562																																						ENST00000440501.1																			0				lung(5)	5						c.(961-963)Gcc>Acc		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						52.0	58.0	56.0					17																	26731754		2053	4206	6259	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731754C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.961G>A	17.37:g.26731754C>T	ENSP00000395653:p.Ala321Thr					SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.A321T	p.A321T	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1056	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		321					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.961G>A		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429094	0.43122	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.58940	0.3;0.3	5.05	2.84	0.33178	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.388376	0.30686	N	0.009086	T	0.49966	0.1588	.	.	.	0.20074	N	0.999933	P;P;B	0.38767	0.601;0.646;0.144	B;B;B	0.43508	0.259;0.422;0.11	T	0.39035	-0.9633	9	0.22706	T	0.39	-0.3203	13.1173	0.59307	0.1196:0.749:0.1313:0.0	.	321;321;321	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	T	321	ENSP00000395653:A321T;ENSP00000318828:A321T	ENSP00000318828:A321T	A	-	1	0	SLC46A1	23755881	1.000000	0.71417	0.979000	0.43373	0.321000	0.28281	3.776000	0.55356	1.103000	0.41568	0.563000	0.77884	GCC		0.562	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		5	20	0	0	0	1	0	5	20				
BRAT1	221927	broad.mit.edu	37	7	2578022	2578022	+	Missense_Mutation	SNP	G	G	A	rs140802292	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2578022G>A	ENST00000340611.4	-	14	2403	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	716					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.A716V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGACTTCTGCGCCACAGGGCG	0.627													G|||	4	0.000798722	0.003	0.0	5008	,	,		18137	0.0		0.0	False		,,,				2504	0.0					ENST00000340611.4																			1	Substitution - Missense(1)	p.A716V(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(2146-2148)gCg>gTg		BRCA1-associated ATM activator 1		G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	51.0	61.0	58.0		2147	5.3	1.0	7	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BRAT1	NM_152743.3	64	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	probably-damaging	716/822	2578022	10,12996	2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2578022G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2147C>T	7.37:g.2578022G>A	ENSP00000339637:p.Ala716Val						p.A716V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			14	2403	-			716					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.2147C>T	CCDS5334.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.2	4.509700	0.85282	0.002043	1.16E-4	ENSG00000106009	ENST00000340611	T	0.37235	1.21	5.27	5.27	0.74061	.	0.214824	0.47093	D	0.000241	T	0.58991	0.2161	M	0.71581	2.175	0.45439	D	0.998418	D	0.89917	1.0	D	0.70016	0.967	T	0.62421	-0.6858	10	0.72032	D	0.01	-31.4975	15.475	0.75471	0.0:0.1487:0.8513:0.0	.	716	Q6PJG6	BRAT1_HUMAN	V	716	ENSP00000339637:A716V	ENSP00000339637:A716V	A	-	2	0	BRAT1	2544548	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	4.230000	0.58632	2.455000	0.83008	0.561000	0.74099	GCG		0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		10	15	0	0	0	1	0	10	15				
KHK	3795	broad.mit.edu	37	2	27320416	27320416	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27320416G>A	ENST00000260599.6	+	5	976	c.463G>A	c.(463-465)Gca>Aca	p.A155T	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A155T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	155					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGATAGACGCACACAACAC	0.622																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(463-465)Gca>Aca		ketohexokinase (fructokinase)							79.0	68.0	72.0					2																	27320416		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27320416G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.463G>A	2.37:g.27320416G>A	ENSP00000260599:p.Ala155Thr					KHK_ENST00000260598.5_Missense_Mutation_p.A155T|KHK_ENST00000490823.1_3'UTR	p.A155T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			5	976	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		155					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.463G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	6.171	0.399811	0.11696	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.76578	-1.03;-1.03;-0.06	5.93	-3.83	0.04269	Carbohydrate/purine kinase (1);	0.968623	0.08565	N	0.926945	T	0.60586	0.2280	N	0.20483	0.58	0.09310	N	1	B;B;B;B	0.16166	0.001;0.001;0.016;0.001	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.43360	-0.9396	10	0.14656	T	0.56	-15.893	14.2547	0.66043	0.2583:0.1835:0.5582:0.0	.	155;155;155;155	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	155;155;200	ENSP00000260599:A155T;ENSP00000260598:A155T;ENSP00000404741:A200T	ENSP00000260598:A155T	A	+	1	0	KHK	27173920	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.110000	0.10824	-0.732000	0.04856	-1.982000	0.00454	GCA		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			15	16	0	0	0	1	0	15	16				
RHCG	51458	broad.mit.edu	37	15	90019995	90019995	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90019995G>A	ENST00000268122.4	-	9	1370	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	RHCG_ENST00000544600.1_Silent_p.V434V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	434					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCTCCCAGTAGACCGCATCCT	0.562																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1300-1302)gtC>gtT		Rh family, C glycoprotein							102.0	93.0	96.0					15																	90019995		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90019995G>A	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1302C>T	15.37:g.90019995G>A						RHCG_ENST00000544600.1_Silent_p.V434V	p.V434V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			9	1370	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		434					A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.1302C>T	CCDS10351.1																																																																																				0.562	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		4	32	0	0	0	1	0	4	32				
PRSS21	10942	broad.mit.edu	37	16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A	rs373819301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2871093G>A	ENST00000005995.3	+	5	730	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.G228R|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(682-684)Ggg>Agg		protease, serine, 21 (testisin)		G	ARG/GLY,ARG/GLY,	1,4395	2.1+/-5.4	0,1,2197	258.0	229.0	239.0		688,682,	0.4	0.0	16		239	0,8600		0,0,4300	no	missense,missense,intron	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	125,125,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	230/315,228/313,	2871093	1,12995	2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871093G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.688G>A	16.37:g.2871093G>A	ENSP00000005995:p.Gly230Arg					PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R|PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron	p.G228R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	788	+			230			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.682G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	7.367	0.626000	0.14257	2.27E-4	0.0	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.90133	-2.62;-2.62	4.14	0.42	0.16444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86322	0.5905	L	0.55103	1.725	0.09310	N	1	P;B	0.50710	0.938;0.171	B;B	0.42798	0.398;0.035	T	0.76280	-0.3017	9	0.44086	T	0.13	.	6.7545	0.23505	0.5373:0.0:0.4627:0.0	.	230;228	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	R	228;230	ENSP00000400632:G228R;ENSP00000005995:G230R	ENSP00000005995:G230R	G	+	1	0	PRSS21	2811094	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	0.220000	0.20860	0.567000	0.79289	GGG		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		4	174	0	0	0	1	0	4	174				
ITPR1	3708	broad.mit.edu	37	3	4824396	4824396	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4824396G>A	ENST00000443694.2	+	47	6436	c.6436G>A	c.(6436-6438)Ggg>Agg	p.G2146R	ITPR1_ENST00000357086.4_Missense_Mutation_p.G2113R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2098R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2146R|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2146R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2113R|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2161					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGGAACGTGGGGCACAACAT	0.542																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6436-6438)Ggg>Agg		inositol 1,4,5-trisphosphate receptor, type 1							91.0	100.0	97.0					3																	4824396		2087	4188	6275	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4824396G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6436G>A	3.37:g.4824396G>A	ENSP00000401671:p.Gly2146Arg					ITPR1_ENST00000456211.2_Missense_Mutation_p.G2098R|ITPR1_ENST00000443694.2_Missense_Mutation_p.G2146R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G2113R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G2113R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2146R|ITPR1_ENST00000544951.1_Intron	p.G2146R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6786	+			2161					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.6436G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215705	0.95104	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93076	-3.16;-3.15;-3.15;-3.15;-3.13;-3.16	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.951;0.993	D	0.98368	1.0552	10	0.87932	D	0	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	2161;2113	Q14643;G5E9P1	ITPR1_HUMAN;.	R	2161;2146;2146;2113;607;2113;2098;2146	ENSP00000306253:G2146R;ENSP00000346595:G2146R;ENSP00000405934:G2113R;ENSP00000349597:G2113R;ENSP00000397885:G2098R;ENSP00000401671:G2146R	ENSP00000306253:G2146R	G	+	1	0	ITPR1	4799396	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.783000	0.99037	2.407000	0.81776	0.655000	0.94253	GGG		0.542	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		9	21	0	0	0	1	0	9	21				
METTL10	399818	broad.mit.edu	37	10	126463302	126463302	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:126463302G>A	ENST00000368836.2	-	4	377	c.341C>T	c.(340-342)gCa>gTa	p.A114V	RP11-12J10.3_ENST00000494792.1_Nonsense_Mutation_p.Q79*	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	114							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		AAGCTGAATTGCAGAAGGAGA	0.229																																						ENST00000494792.1																			0											c.(235-237)Caa>Taa									19.0	22.0	21.0					10																	126463302		2060	4108	6168	SO:0001583	missense	0							g.chr10:126463302G>A		CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 138"""	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.341C>T	10.37:g.126463302G>A	ENSP00000357829:p.Ala114Val					METTL10_ENST00000368836.2_Missense_Mutation_p.A114V	p.Q79*							4	234	-								A8MPY7	Nonsense_Mutation	SNP	ENST00000368836.2	37	c.235C>T	CCDS31307.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206236	0.95033	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	T	0.71103	-0.54	5.65	5.65	0.86999	.	0.058662	0.64402	D	0.000002	D	0.83977	0.5371	M	0.66439	2.03	0.46298	D	0.998977	D;D;D	0.76494	0.998;0.999;0.996	D;D;D	0.83275	0.953;0.996;0.96	D	0.84261	0.0483	9	0.87932	D	0	-17.5908	19.9142	0.97043	0.0:0.0:1.0:0.0	.	36;115;114	E7EP98;B5MDU2;Q5JPI9	.;.;MTL10_HUMAN	V	114	ENSP00000357829:A114V	ENSP00000351845:A114V	A	-	2	0	METTL10	126453292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.459000	0.90367	2.941000	0.99782	0.655000	0.94253	GCA		0.229	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554		20	24	0	0	0	1	0	20	24				
EVPL	2125	broad.mit.edu	37	17	74019736	74019736	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74019736C>A	ENST00000301607.3	-	3	452		c.e3-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCAGCCGGTCCTGTGGGCAGG	0.667																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.e3-1		envoplakin							13.0	15.0	14.0					17																	74019736		2179	4274	6453	SO:0001630	splice_region_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019736C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.199-1G>T	17.37:g.74019736C>A						EVPL_ENST00000586740.1_Splice_Site		NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			3	452	-								A0AUV5	Splice_Site	SNP	ENST00000301607.3	37		CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745284	0.69418	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6482	0.68777	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVPL	71531331	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.738000	0.68613	2.293000	0.77203	0.561000	0.74099	.		0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	Intron	5	3	1	0	0.184627	1	0.185007	5	3				
SPRED2	200734	broad.mit.edu	37	2	65561755	65561755	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65561755G>A	ENST00000356388.4	-	3	546	c.357C>T	c.(355-357)atC>atT	p.I119I	SPRED2_ENST00000443619.2_Silent_p.I116I|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	119	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.I119I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TAAGGTCTTCGATTGCTTTCC	0.408																																						ENST00000356388.4																			1	Substitution - coding silent(1)	p.I119I(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(355-357)atC>atT		sprouty-related, EVH1 domain containing 2							152.0	139.0	144.0					2																	65561755		2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561755G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.357C>T	2.37:g.65561755G>A						SPRED2_ENST00000443619.2_Silent_p.I116I|SPRED2_ENST00000474228.1_5'UTR	p.I119I	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	546	-			119			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.357C>T	CCDS33211.1																																																																																				0.408	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			8	71	0	0	0	1	0	8	71				
CXCR2	3579	broad.mit.edu	37	2	219000152	219000152	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219000152C>A	ENST00000318507.2	+	3	1055	c.628C>A	c.(628-630)Ctg>Atg	p.L210M		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	210					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTGGCGGATGCTGTTACGGAT	0.537																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(628-630)Ctg>Atg		chemokine (C-X-C motif) receptor 2							129.0	117.0	121.0					2																	219000152		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000152C>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.628C>A	2.37:g.219000152C>A	ENSP00000319635:p.Leu210Met						p.L210M	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1055	+			210					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.628C>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672497	0.29693	.	.	ENSG00000180871	ENST00000318507	T	0.39592	1.07	5.39	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.724512	0.13501	N	0.383277	T	0.39809	0.1092	L	0.43757	1.38	0.18873	N	0.999986	B	0.33413	0.411	B	0.43916	0.436	T	0.33420	-0.9869	9	.	.	.	.	4.9466	0.13993	0.081:0.1508:0.6145:0.1537	.	210	P25025	CXCR2_HUMAN	M	210	ENSP00000319635:L210M	.	L	+	1	2	CXCR2	218708397	0.831000	0.29352	0.464000	0.27143	0.161000	0.22273	1.334000	0.33827	1.282000	0.44496	-0.397000	0.06425	CTG		0.537	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		41	44	1	0	2.77807e-22	1	3.09e-22	41	44				
WNK1	65125	broad.mit.edu	37	12	939316	939316	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:939316G>A	ENST00000315939.6	+	4	1944	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	WNK1_ENST00000530271.2_Missense_Mutation_p.R434H|WNK1_ENST00000537687.1_Missense_Mutation_p.R434H|WNK1_ENST00000535572.1_Missense_Mutation_p.R434H|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATCTACCGTCGCGTGACCAGT	0.448																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1300-1302)cGc>cAc		WNK lysine deficient protein kinase 1							153.0	123.0	133.0					12																	939316		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:939316G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1301G>A	12.37:g.939316G>A	ENSP00000313059:p.Arg434His					WNK1_ENST00000530271.2_Missense_Mutation_p.R434H|WNK1_ENST00000535572.1_Missense_Mutation_p.R434H|WNK1_ENST00000315939.6_Missense_Mutation_p.R434H|WNK1_ENST00000540360.1_3'UTR	p.R434H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		4	1944	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		434			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.1301G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853216	0.91355	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000066	T	0.38957	0.1060	N	0.20574	0.59	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.969;0.982	T	0.37150	-0.9718	10	0.87932	D	0	-10.4471	19.3708	0.94484	0.0:0.0:1.0:0.0	.	434;434	F5GWT4;Q9H4A3	.;WNK1_HUMAN	H	434	ENSP00000441972:R434H;ENSP00000313059:R434H;ENSP00000444465:R434H;ENSP00000433548:R434H	ENSP00000313059:R434H	R	+	2	0	WNK1	809577	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.836000	0.75349	2.571000	0.86741	0.467000	0.42956	CGC		0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	26	0	0	0	1	0	6	26				
HIVEP2	3097	broad.mit.edu	37	6	143092937	143092937	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:143092937G>A	ENST00000367604.1	-	4	3578	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S980F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S980F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	980	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAAGACATGGAGAAACTGGA	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(2938-2940)tCc>tTc		human immunodeficiency virus type I enhancer binding protein 2							87.0	90.0	89.0					6																	143092937		1906	4136	6042	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092937G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.2939C>T	6.37:g.143092937G>A	ENSP00000356576:p.Ser980Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S980F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S980F	p.S980F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3681	-			980			Ser-rich.		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.2939C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549416	0.86127	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.13657	2.57;2.57;2.57	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.37619	-0.9698	10	0.87932	D	0	-14.3583	19.5351	0.95247	0.0:0.0:1.0:0.0	.	980	P31629	ZEP2_HUMAN	F	980	ENSP00000356576:S980F;ENSP00000356575:S980F;ENSP00000012134:S980F	ENSP00000012134:S980F	S	-	2	0	HIVEP2	143134630	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	TCC		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			28	53	0	0	0	1	0	28	53				
MAST4	375449	broad.mit.edu	37	5	66460263	66460263	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:66460263C>T	ENST00000403625.2	+	29	5551	c.5256C>T	c.(5254-5256)gcC>gcT	p.A1752A	MAST4_ENST00000261569.7_Silent_p.A1558A|MAST4_ENST00000405643.1_Silent_p.A1573A|MAST4_ENST00000403666.1_Silent_p.A1563A|MAST4_ENST00000404260.3_Silent_p.A1755A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1755						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGATGAGTGCCGTCTCTTTTG	0.622																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(5263-5265)gcC>gcT		microtubule associated serine/threonine kinase family member 4							50.0	53.0	52.0					5																	66460263		1928	4128	6056	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460263C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5256C>T	5.37:g.66460263C>T						MAST4_ENST00000261569.7_Silent_p.A1558A|MAST4_ENST00000403625.2_Silent_p.A1752A|MAST4_ENST00000403666.1_Silent_p.A1563A|MAST4_ENST00000405643.1_Silent_p.A1573A	p.A1755A			O15021	MAST4_HUMAN		Lung(70;0.011)	29	5573	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1755					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5265C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.278753	0.01410	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.24	-10.5	0.00291	.	.	.	.	.	T	0.16428	0.0395	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08785	-1.0705	4	.	.	.	0.9005	4.2063	0.10490	0.1753:0.0753:0.1895:0.56	.	.	.	.	C	809	.	.	R	+	1	0	MAST4	66496019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.255000	0.02872	-2.719000	0.00389	-0.882000	0.02950	CGT		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	26	0	0	0	1	0	6	26				
MOCOS	55034	broad.mit.edu	37	18	33779931	33779931	+	Silent	SNP	G	G	A	rs3744902		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:33779931G>A	ENST00000261326.5	+	4	606	c.585G>A	c.(583-585)ccG>ccA	p.P195P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCAGCTGCCGCATCTCTTCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20546	0.0		0.001	False		,,,				2504	0.0					ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(583-585)ccG>ccA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						56.0	55.0	55.0					18																	33779931		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33779931G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.585G>A	18.37:g.33779931G>A							p.P195P	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			4	606	+			195						Silent	SNP	ENST00000261326.5	37	c.585G>A	CCDS11919.1																																																																																				0.557	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			7	17	0	0	0	1	0	7	17				
PARD3B	117583	broad.mit.edu	37	2	205990365	205990365	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:205990365G>T	ENST00000406610.2	+	10	1545	c.1338G>T	c.(1336-1338)caG>caT	p.Q446H	PARD3B_ENST00000462231.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q446H|PARD3B_ENST00000351153.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000349953.3_Missense_Mutation_p.Q446H	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	446	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACGAACCCAGGAAGAGCTTG	0.483																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1336-1338)caG>caT		par-3 family cell polarity regulator beta							108.0	109.0	108.0					2																	205990365		1999	4176	6175	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205990365G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1338G>T	2.37:g.205990365G>T	ENSP00000385848:p.Gln446His					PARD3B_ENST00000349953.3_Missense_Mutation_p.Q446H|PARD3B_ENST00000462231.1_Missense_Mutation_p.Q446H|PARD3B_ENST00000358768.2_Missense_Mutation_p.Q446H|PARD3B_ENST00000351153.1_Missense_Mutation_p.Q446H	p.Q446H	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	10	1545	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	446			PDZ 2.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1338G>T		.	.	.	.	.	.	.	.	.	.	G	16.15	3.042403	0.55003	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.73	3.91	0.45181	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.14830	0.0358	N	0.05383	-0.06	0.58432	D	0.999991	D;P;D;D;D	0.89917	0.995;0.913;1.0;0.999;0.999	D;P;D;D;D	0.91635	0.995;0.808;0.999;0.999;0.999	T	0.20240	-1.0281	10	0.16896	T	0.51	.	9.5548	0.39332	0.3254:0.0:0.6746:0.0	.	446;446;446;446;446	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	H	446	ENSP00000385848:Q446H;ENSP00000351618:Q446H;ENSP00000317261:Q446H;ENSP00000340280:Q446H	ENSP00000340280:Q446H	Q	+	3	2	PARD3B	205698610	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.176000	0.31957	0.864000	0.35578	0.555000	0.69702	CAG		0.483	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		20	34	1	0	2.27731e-05	1	2.3498e-05	20	34				
VPS33B	26276	broad.mit.edu	37	15	91557641	91557641	+	Missense_Mutation	SNP	G	G	A	rs566391215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91557641G>A	ENST00000333371.3	-	4	615	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.R61C|VPS33B_ENST00000557358.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	88					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTCTTGATGCGGGGTCTGACC	0.418																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(262-264)Cgc>Tgc		vacuolar protein sorting 33 homolog B (yeast)							199.0	191.0	193.0					15																	91557641		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557641G>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.262C>T	15.37:g.91557641G>A	ENSP00000327650:p.Arg88Cys					VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.R61C	p.R88C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			4	615	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		88					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.262C>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272922	0.80580	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000537510	T;T	0.77229	-1.08;-1.08	5.11	5.11	0.69529	.	0.050277	0.85682	D	0.000000	T	0.81936	0.4928	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65874	0.899;0.939	T	0.82934	-0.0211	10	0.54805	T	0.06	0.9355	17.2554	0.87055	0.0:0.0:1.0:0.0	.	61;88	F5H008;Q9H267	.;VP33B_HUMAN	C	88;61;43	ENSP00000327650:R88C;ENSP00000444053:R61C	ENSP00000327650:R88C	R	-	1	0	VPS33B	89358645	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.272000	0.58908	2.651000	0.90000	0.655000	0.94253	CGC		0.418	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		68	115	0	0	0	1	0	68	115				
CYP2U1	113612	broad.mit.edu	37	4	108866737	108866737	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:108866737A>G	ENST00000332884.6	+	2	1377	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.M159V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	368					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CCTGCTGTATATGTCGCTGAA	0.403																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1102-1104)Atg>Gtg		cytochrome P450, family 2, subfamily U, polypeptide 1							143.0	140.0	141.0					4																	108866737		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866737A>G	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1102A>G	4.37:g.108866737A>G	ENSP00000333212:p.Met368Val					RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.M159V	p.M368V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1377	+		Hepatocellular(203;0.217)	368					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1102A>G	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862178	0.32884	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79749	-1.3;-1.3	5.83	4.62	0.57501	.	0.035139	0.85682	D	0.000000	D	0.83963	0.5368	M	0.73430	2.235	0.53688	D	0.999971	P	0.42961	0.795	P	0.50754	0.649	D	0.84033	0.0360	10	0.87932	D	0	.	8.5637	0.33527	0.7363:0.1348:0.0:0.1289	.	368	Q7Z449	CP2U1_HUMAN	V	368;325;159	ENSP00000333212:M368V;ENSP00000423667:M159V	ENSP00000333212:M368V	M	+	1	0	CYP2U1	109086186	1.000000	0.71417	0.991000	0.47740	0.025000	0.11179	4.004000	0.57068	1.000000	0.39049	0.459000	0.35465	ATG		0.403	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		24	105	0	0	0	1	0	24	105				
ZCCHC5	203430	broad.mit.edu	37	X	77912930	77912930	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77912930G>T	ENST00000321110.1	-	2	1283	c.988C>A	c.(988-990)Cat>Aat	p.H330N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	330							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CAGAGTTGATGGATGCACTGG	0.458																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(988-990)Cat>Aat		zinc finger, CCHC domain containing 5							72.0	59.0	64.0					X																	77912930		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912930G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.988C>A	X.37:g.77912930G>T	ENSP00000316794:p.His330Asn						p.H330N	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1283	-			330					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.988C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.966048	0.00461	.	.	ENSG00000179300	ENST00000321110	T	0.16457	2.34	3.2	0.399	0.16325	.	0.983847	0.08211	U	0.980791	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.41627	-0.9498	10	0.21014	T	0.42	.	3.6264	0.08114	0.1765:0.0:0.6189:0.2046	.	330	Q8N8U3	ZCHC5_HUMAN	N	330	ENSP00000316794:H330N	ENSP00000316794:H330N	H	-	1	0	ZCCHC5	77799586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.590000	0.05760	-0.050000	0.13356	-1.240000	0.01540	CAT		0.458	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		11	6	1	0	1.08611e-07	1	1.14056e-07	11	6				
NEO1	4756	broad.mit.edu	37	15	73585754	73585754	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73585754C>T	ENST00000339362.5	+	27	4213	c.3766C>T	c.(3766-3768)Cat>Tat	p.H1256Y	NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1245Y|NEO1_ENST00000261908.6_Missense_Mutation_p.H1256Y			Q92859	NEO1_HUMAN	neogenin 1	1256					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCATCCCATCCATTCCCTCGA	0.502																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3766-3768)Cat>Tat		neogenin 1							297.0	241.0	260.0					15																	73585754		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73585754C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3766C>T	15.37:g.73585754C>T	ENSP00000341198:p.His1256Tyr					NEO1_ENST00000261908.6_Missense_Mutation_p.H1256Y|NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Missense_Mutation_p.H1245Y	p.H1256Y			Q92859	NEO1_HUMAN			27	4213	+			1256					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3766C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552421	0.86127	.	.	ENSG00000067141	ENST00000379842;ENST00000261908	T	0.47869	0.83	5.65	5.65	0.86999	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62841	0.2461	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.982;0.995;0.998	D;D;D	0.70227	0.925;0.953;0.968	T	0.55749	-0.8092	10	0.02654	T	1	-14.4154	20.0965	0.97849	0.0:1.0:0.0:0.0	.	1245;967;1256	B7ZKN0;E7EUX3;Q92859	.;.;NEO1_HUMAN	Y	967;1256	ENSP00000261908:H1256Y	ENSP00000261908:H1256Y	H	+	1	0	NEO1	71372807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.824000	0.97209	0.655000	0.94253	CAT		0.502	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		26	99	0	0	0	1	0	26	99				
PPP3CC	5533	broad.mit.edu	37	8	22355515	22355515	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22355515G>A	ENST00000240139.5	+	4	701	c.374G>A	c.(373-375)tGt>tAt	p.C125Y	PPP3CC_ENST00000397775.3_Splice_Site_p.C125Y|PPP3CC_ENST00000289963.8_Splice_Site_p.C125Y|PPP3CC_ENST00000518852.1_Splice_Site_p.C125Y	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	125					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTCTTGTAGTGTGTGCTGTAT	0.323																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.e4-1		protein phosphatase 3, catalytic subunit, gamma isozyme							136.0	125.0	129.0					8																	22355515		2203	4300	6503	SO:0001630	splice_region_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22355515G>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.373-1G>A	8.37:g.22355515G>A						PPP3CC_ENST00000518852.1_Splice_Site_p.C125_splice|PPP3CC_ENST00000397775.3_Splice_Site_p.C125_splice|PPP3CC_ENST00000289963.8_Splice_Site_p.C125_splice	p.C125_splice	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	4	701	+		Prostate(55;0.104)	125					B4DRT5|Q9BSS6|Q9H4M5	Splice_Site	SNP	ENST00000240139.5	37	c.372_splice	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.443013|4.443013	0.83993|0.83993	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775|ENST00000521651	T;T;T;T|.	0.06294|.	3.32;3.32;3.32;3.32|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);|.	0.086453|.	0.85682|.	D|.	0.000000|.	D|D	0.91019|0.91019	0.7175|0.7175	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.995|.	D|D	0.93981|0.93981	0.7258|0.7258	10|5	0.87932|.	D|.	0|.	-17.7901|-17.7901	18.8935|18.8935	0.92414|0.92414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	125;125;125;125|.	B4DRT5;P48454-2;P48454;G3V111|.	.;.;PP2BC_HUMAN;.|.	Y|M	125|2	ENSP00000429379:C125Y;ENSP00000240139:C125Y;ENSP00000289963:C125Y;ENSP00000380878:C125Y|.	ENSP00000240139:C125Y|.	C|V	+|+	2|1	0|0	PPP3CC|PPP3CC	22411460|22411460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.415000|9.415000	0.97375|0.97375	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.323	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	Missense_Mutation	13	22	0	0	0	1	0	13	22				
OLFML2A	169611	broad.mit.edu	37	9	127549253	127549253	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127549253G>T	ENST00000373580.3	+	2	90		c.e2-1			NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A						extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCCCGCAACAGGTGTTTGGGG	0.637																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.e2-1		olfactomedin-like 2A							82.0	89.0	87.0					9																	127549253		1981	4162	6143	SO:0001630	splice_region_variant	169611							g.chr9:127549253G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.91-1G>T	9.37:g.127549253G>T								NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	90	+								Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Splice_Site	SNP	ENST00000373580.3	37		CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139191	0.77775	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OLFML2A	126589074	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.458000	0.80787	2.699000	0.92147	0.655000	0.94253	.		0.637	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	Intron	4	114	1	0	0.000602214	1	0.000612743	4	114				
CMAS	55907	broad.mit.edu	37	12	22208195	22208195	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:22208195G>A	ENST00000229329.2	+	2	503	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	125					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCACTAGATGCCATCATAGA	0.318																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(373-375)Gcc>Acc		cytidine monophosphate N-acetylneuraminic acid synthetase							64.0	63.0	64.0					12																	22208195		2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208195G>A	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.373G>A	12.37:g.22208195G>A	ENSP00000229329:p.Ala125Thr						p.A125T	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			2	503	+			125					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.373G>A	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125021	0.37533	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.063058	0.64402	D	0.000004	T	0.36717	0.0977	N	0.12831	0.26	0.42729	D	0.993706	B	0.15719	0.014	B	0.22386	0.039	T	0.24584	-1.0156	9	0.07482	T	0.82	-16.9595	13.0369	0.58877	0.0768:0.0:0.9232:0.0	.	125	Q8NFW8	NEUA_HUMAN	T	125	.	ENSP00000229329:A125T	A	+	1	0	CMAS	22099462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.841000	0.55850	2.597000	0.87782	0.591000	0.81541	GCC		0.318	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		21	27	0	0	0	1	0	21	27				
MYO10	4651	broad.mit.edu	37	5	16694490	16694490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16694490G>A	ENST00000513610.1	-	27	4244	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R621*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.R621*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1264	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTTGCCGTTCGCACTTCTACG	0.537																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3790-3792)Cga>Tga		myosin X							149.0	151.0	150.0					5																	16694490		2048	4205	6253	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694490G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3790C>T	5.37:g.16694490G>A	ENSP00000421280:p.Arg1264*					MYO10_ENST00000427430.2_Nonsense_Mutation_p.R621*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.R603*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.R621*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.R603*	p.R1264*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4244	-			1264			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.3790C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	45	11.944751	0.99620	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5891	0.76510	0.0:0.0:0.8612:0.1388	.	.	.	.	X	1264;603;621;603;621	.	ENSP00000274203:R621X	R	-	1	2	MYO10	16747490	1.000000	0.71417	0.884000	0.34674	0.191000	0.23601	7.998000	0.88491	1.291000	0.44653	0.655000	0.94253	CGA		0.537	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		39	69	0	0	0	1	0	39	69				
GP1BA	2811	broad.mit.edu	37	17	4837102	4837102	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4837102C>T	ENST00000329125.5	+	2	1278	c.1203C>T	c.(1201-1203)acC>acT	p.T401T		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	401	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ACATGACCACCCTGGAGCCCA	0.662																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(1201-1203)acC>acT		glycoprotein Ib (platelet), alpha polypeptide							53.0	64.0	60.0					17																	4837102		1877	4092	5969	SO:0001819	synonymous_variant	2811							g.chr17:4837102C>T		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1203C>T	17.37:g.4837102C>T							p.T401T	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	1278	+			401					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.1203C>T	CCDS54068.1																																																																																				0.662	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			14	15	0	0	0	1	0	14	15				
LPA	4018	broad.mit.edu	37	6	161026156	161026156	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161026156A>G	ENST00000316300.5	-	18	2911	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	LPA_ENST00000447678.1_Missense_Mutation_p.V956A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3464	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCCTGTGACAGTAATGAA	0.463																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2866-2868)gTc>gCc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						337.0	350.0	346.0					6																	161026156		2202	4300	6502	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026156A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2867T>C	6.37:g.161026156A>G	ENSP00000321334:p.Val956Ala					LPA_ENST00000316300.5_Missense_Mutation_p.V956A	p.V956A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	2987	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3464			Kringle 9.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2867T>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	2.376	-0.343321	0.05243	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65732	-0.17;-0.17	2.16	-1.32	0.09201	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.45135	0.1327	L	0.54965	1.715	0.09310	N	1	P	0.45348	0.856	P	0.61592	0.891	T	0.43310	-0.9399	9	0.08599	T	0.76	.	4.5749	0.12228	0.4673:0.0:0.0:0.5327	.	3464	P08519	APOA_HUMAN	A	956	ENSP00000321334:V956A;ENSP00000395608:V956A	ENSP00000321334:V956A	V	-	2	0	LPA	160946146	0.556000	0.26538	0.000000	0.03702	0.047000	0.14425	1.054000	0.30455	0.065000	0.16485	0.155000	0.16302	GTC		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		13	379	0	0	0	1	0	13	379				
FBN2	2201	broad.mit.edu	37	5	127681174	127681174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127681174G>A	ENST00000508053.1	-	30	4066	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	FBN2_ENST00000508989.1_Missense_Mutation_p.A998V|FBN2_ENST00000262464.4_Missense_Mutation_p.A1031V			P35556	FBN2_HUMAN	fibrillin 2	1031	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCCCAAGCCGCCCCGACAGC	0.592																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3091-3093)gCg>gTg		fibrillin 2							78.0	77.0	77.0					5																	127681174		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681174G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3092C>T	5.37:g.127681174G>A	ENSP00000424571:p.Ala1031Val					FBN2_ENST00000262464.4_Missense_Mutation_p.A1031V|FBN2_ENST00000508989.1_Missense_Mutation_p.A998V	p.A1031V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	30	4066	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1031			TB 5.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3092C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201165	0.58234	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93133	-3.17;-3.17;-3.17	4.22	4.22	0.49857	Matrix fibril-associated (3);TGF-beta binding (1);	0.194922	0.34853	N	0.003627	D	0.93733	0.7997	M	0.63428	1.95	0.38263	D	0.941921	D;B	0.54207	0.965;0.106	P;B	0.51079	0.658;0.013	D	0.92773	0.6234	10	0.23891	T	0.37	.	17.9071	0.88921	0.0:0.0:1.0:0.0	.	998;1031	D6RJI3;P35556	.;FBN2_HUMAN	V	1031;1031;998	ENSP00000262464:A1031V;ENSP00000424571:A1031V;ENSP00000425596:A998V	ENSP00000262464:A1031V	A	-	2	0	FBN2	127709073	0.710000	0.27896	0.984000	0.44739	0.989000	0.77384	3.800000	0.55537	2.654000	0.90174	0.563000	0.77884	GCG		0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		14	39	0	0	0	1	0	14	39				
NPC1L1	29881	broad.mit.edu	37	7	44579810	44579810	+	Silent	SNP	C	C	T	rs374049578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44579810C>T	ENST00000289547.4	-	2	241	c.186G>A	c.(184-186)ccG>ccA	p.P62P	NPC1L1_ENST00000423141.1_Silent_p.P62P|NPC1L1_ENST00000381160.3_Silent_p.P62P|NPC1L1_ENST00000546276.1_Silent_p.P62P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	62					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTTGCGGGCCGGCGTGTTGG	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16680	0.0		0.0	False		,,,				2504	0.0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(184-186)ccG>ccA		NPC1-like 1	Ezetimibe(DB00973)	C	,	0,4406		0,0,2203	65.0	65.0	65.0		186,186	-9.8	0.0	7		65	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	62/1333,62/1360	44579810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579810C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.186G>A	7.37:g.44579810C>T						NPC1L1_ENST00000381160.3_Silent_p.P62P|NPC1L1_ENST00000423141.1_Silent_p.P62P|NPC1L1_ENST00000546276.1_Silent_p.P62P	p.P62P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	241	-			62					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.186G>A	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	13	0	0	0	1	0	7	13				
ZBED1	9189	broad.mit.edu	37	X	2407778	2407778	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2407778G>A	ENST00000381223.4	-	2	1186	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ZBED1_ENST00000381222.2_Missense_Mutation_p.A328V|ZBED1_ENST00000381218.3_Missense_Mutation_p.A328V|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	328					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATGTACATGGCCACGGCAGA	0.627																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(982-984)gCc>gTc		zinc finger, BED-type containing 1							72.0	62.0	65.0					X																	2407778		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407778G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.983C>T	X.37:g.2407778G>A	ENSP00000370621:p.Ala328Val					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A328V|ZBED1_ENST00000381218.3_Missense_Mutation_p.A328V	p.A328V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1186	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	328					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.983C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949292	0.34377	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22539	1.95;1.95;1.95	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000017	T	0.14270	0.0345	.	.	.	0.09310	N	1	P	0.47034	0.889	B	0.41036	0.346	T	0.15407	-1.0438	9	0.15952	T	0.53	-31.8168	13.6519	0.62316	0.0:0.0:1.0:0.0	.	328	O96006	ZBED1_HUMAN	V	328	ENSP00000370621:A328V;ENSP00000370620:A328V;ENSP00000370616:A328V	ENSP00000370616:A328V	A	-	2	0	ZBED1	2417778	0.983000	0.35010	0.616000	0.29078	0.202000	0.24057	3.665000	0.54532	1.155000	0.42497	0.519000	0.50382	GCC		0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		17	28	0	0	0	1	0	17	28				
B3GALT4	8705	broad.mit.edu	37	6	33246264	33246264	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33246264C>A	ENST00000451237.1	+	1	1348	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	356					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGACTGCGCCCTTTTGCTCCT	0.612																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(1066-1068)ccC>ccA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							113.0	132.0	126.0					6																	33246264		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246264C>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1068C>A	6.37:g.33246264C>A							p.P356P	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1348	+			356						Silent	SNP	ENST00000451237.1	37	c.1068C>A	CCDS34425.1																																																																																				0.612	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			33	58	1	0	3.21399e-22	1	3.57409e-22	33	58				
KLHL22	84861	broad.mit.edu	37	22	20800831	20800831	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20800831G>A	ENST00000328879.4	-	6	1594	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	KLHL22_ENST00000440659.2_Missense_Mutation_p.P337S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	480					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCCGCACAGGCCCATCAGCC	0.592																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1438-1440)Cct>Tct		kelch-like family member 22							186.0	144.0	158.0					22																	20800831		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800831G>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1438C>T	22.37:g.20800831G>A	ENSP00000331682:p.Pro480Ser					KLHL22_ENST00000440659.2_Missense_Mutation_p.P337S	p.P480S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1594	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	480					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1438C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972548	0.92919	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.64991	-0.13;-0.13	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65146	-0.6239	10	0.02654	T	1	.	17.2701	0.87098	0.0:0.0:1.0:0.0	.	480	Q53GT1	KLH22_HUMAN	S	480;337	ENSP00000331682:P480S;ENSP00000405521:P337S	ENSP00000331682:P480S	P	-	1	0	KLHL22	19130831	1.000000	0.71417	0.702000	0.30337	0.998000	0.95712	9.177000	0.94849	2.687000	0.91594	0.563000	0.77884	CCT		0.592	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		29	38	0	0	0	1	0	29	38				
SCUBE1	80274	broad.mit.edu	37	22	43654236	43654236	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43654236C>T	ENST00000360835.4	-	6	842	c.716G>A	c.(715-717)cGc>cAc	p.R239H	SCUBE1_ENST00000290460.7_Missense_Mutation_p.R239H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	239	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGCACGTGCGACCGTCTGA	0.647																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(715-717)cGc>cAc		signal peptide, CUB domain, EGF-like 1							121.0	94.0	103.0					22																	43654236		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43654236C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.716G>A	22.37:g.43654236C>T	ENSP00000354080:p.Arg239His					SCUBE1_ENST00000290460.7_Missense_Mutation_p.R239H	p.R239H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			6	842	-		all_neural(38;0.0414)|Ovarian(80;0.07)	239			EGF-like 6 (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.716G>A	CCDS14048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.739533|2.739533	0.49045|0.49045	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000360835;ENST00000434132;ENST00000290460	.|T;T	.|0.31510	.|1.49;1.49	4.76|4.76	3.72|3.72	0.42706|0.42706	.|Epidermal growth factor-like (1);	.|0.256580	.|0.37261	.|N	.|0.002168	T|T	0.23289|0.23289	0.0563|0.0563	L|L	0.28400|0.28400	0.85|0.85	0.48185|0.48185	D|D	0.9996|0.9996	.|B;B	.|0.16166	.|0.012;0.016	.|B;B	.|0.15870	.|0.005;0.014	T|T	0.05468|0.05468	-1.0883|-1.0883	6|10	0.87932|0.59425	D|D	0|0.04	.|.	12.0674|12.0674	0.53596|0.53596	0.0:0.9141:0.0:0.0859|0.0:0.9141:0.0:0.0859	.|.	.|239;239	.|B1AH90;Q8IWY4	.|.;SCUB1_HUMAN	T|H	32|239	.|ENSP00000354080:R239H;ENSP00000290460:R239H	ENSP00000370642:A32T|ENSP00000290460:R239H	A|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41984180|41984180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.218000|2.218000	0.42889|0.42889	1.180000|1.180000	0.42898|0.42898	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		14	27	0	0	0	1	0	14	27				
NUMA1	4926	broad.mit.edu	37	11	71725527	71725527	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725527G>A	ENST00000393695.3	-	15	3353	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1008W|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGGTCAGCCGCGCCACCTCC	0.682			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3022-3024)Cgg>Tgg		nuclear mitotic apparatus protein 1							46.0	51.0	49.0					11																	71725527		2198	4290	6488	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725527G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3022C>T	11.37:g.71725527G>A	ENSP00000377298:p.Arg1008Trp					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1008W|RP11-849H4.4_ENST00000502284.1_RNA	p.R1008W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3353	-			1008						Missense_Mutation	SNP	ENST00000393695.3	37	c.3022C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071449	0.55646	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.14766	2.48;2.48	5.07	3.09	0.35607	.	0.000000	0.56097	D	0.000022	T	0.28632	0.0709	L	0.50333	1.59	0.24919	N	0.991994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	T	0.03706	-1.1011	9	.	.	.	.	11.8451	0.52378	0.0:0.0:0.6813:0.3187	.	1014;492;1008;1008	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	W	1008;1008;571	ENSP00000351851:R1008W;ENSP00000377298:R1008W	.	R	-	1	2	NUMA1	71403175	0.013000	0.17824	0.434000	0.26772	0.758000	0.43043	1.018000	0.30002	0.641000	0.30601	0.655000	0.94253	CGG		0.682	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			20	40	0	0	0	1	0	20	40				
NUPL2	11097	broad.mit.edu	37	7	23235498	23235498	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:23235498C>T	ENST00000258742.5	+	4	745	c.486C>T	c.(484-486)taC>taT	p.Y162Y	NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	162	Interaction with HIV-1 Vpr.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTGAATACCATAACTTCT	0.318																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(484-486)taC>taT		nucleoporin like 2							87.0	81.0	83.0					7																	23235498		2203	4299	6502	SO:0001819	synonymous_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23235498C>T	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.486C>T	7.37:g.23235498C>T						NUPL2_ENST00000487595.1_3'UTR	p.Y162Y	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			4	745	+			162			Interaction with HIV-1 Vpr.		A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	37	c.486C>T	CCDS5379.1																																																																																				0.318	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		25	43	0	0	0	1	0	25	43				
SEMA5A	9037	broad.mit.edu	37	5	9122871	9122871	+	Missense_Mutation	SNP	C	C	T	rs200629661		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9122871C>T	ENST00000382496.5	-	14	2343	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	560	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGATCCCACGGCGCTGCCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12547	0.001		0.0	False		,,,				2504	0.0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1678-1680)Gtg>Atg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							59.0	61.0	60.0					5																	9122871		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122871C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1678G>A	5.37:g.9122871C>T	ENSP00000371936:p.Val560Met						p.V560M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2343	-			560			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1678G>A	CCDS3875.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.54	1.670303	0.29693	.	.	ENSG00000112902	ENST00000382496	T	0.36520	1.25	4.95	4.06	0.47325	.	0.424528	0.25264	N	0.031933	T	0.35828	0.0945	L	0.58510	1.815	0.30660	N	0.754522	P	0.34662	0.462	B	0.36766	0.232	T	0.39313	-0.9620	10	0.39692	T	0.17	.	11.4647	0.50232	0.0:0.818:0.182:0.0	.	560	Q13591	SEM5A_HUMAN	M	560	ENSP00000371936:V560M	ENSP00000371936:V560M	V	-	1	0	SEMA5A	9175871	0.001000	0.12720	0.678000	0.29963	0.265000	0.26407	0.627000	0.24506	1.176000	0.42840	0.650000	0.86243	GTG		0.632	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			4	50	0	0	0	1	0	4	50				
RANBP9	10048	broad.mit.edu	37	6	13644886	13644886	+	Missense_Mutation	SNP	C	C	T	rs78716684	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:13644886C>T	ENST00000011619.3	-	6	1061	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	RANBP9_ENST00000539980.1_Missense_Mutation_p.V106M	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	335					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATATCAAACACGAAAGGATGT	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15159	0.0		0.0	False		,,,				2504	0.0					ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1003-1005)Gtg>Atg		RAN binding protein 9		C	MET/VAL	8,4398	14.3+/-33.2	0,8,2195	124.0	115.0	118.0		1003	4.3	1.0	6	dbSNP_131	118	0,8600		0,0,4300	yes	missense	RANBP9	NM_005493.2	21	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging	335/730	13644886	8,12998	2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644886C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1003G>A	6.37:g.13644886C>T	ENSP00000011619:p.Val335Met					RANBP9_ENST00000539980.1_Missense_Mutation_p.V106M	p.V335M	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1061	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	335					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1003G>A	CCDS4529.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.84	3.233466	0.58886	0.001816	0.0	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.61158	0.13;0.13	5.17	4.27	0.50696	Concanavalin A-like lectin/glucanase (1);	0.055575	0.64402	D	0.000001	T	0.49609	0.1567	L	0.50333	1.59	0.58432	D	0.999994	D	0.63880	0.993	P	0.50934	0.654	T	0.52305	-0.8593	10	0.44086	T	0.13	-12.6945	15.0482	0.71844	0.1434:0.8566:0.0:0.0	.	335	Q96S59	RANB9_HUMAN	M	335;106	ENSP00000011619:V335M;ENSP00000438162:V106M	ENSP00000011619:V335M	V	-	1	0	RANBP9	13752865	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	7.776000	0.85560	1.243000	0.43853	0.557000	0.71058	GTG		0.428	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			41	66	0	0	0	1	0	41	66				
ATP11A	23250	broad.mit.edu	37	13	113487330	113487330	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113487330G>A	ENST00000487903.1	+	14	1640	c.1552G>A	c.(1552-1554)Gtc>Atc	p.V518I	ATP11A_ENST00000375630.2_Missense_Mutation_p.V518I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V518I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V518I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	518					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTCGAAGGTGTCCAGAGGTA	0.627																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1552-1554)Gtc>Atc		ATPase, class VI, type 11A							104.0	112.0	109.0					13																	113487330		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487330G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1552G>A	13.37:g.113487330G>A	ENSP00000420387:p.Val518Ile					ATP11A_ENST00000375630.2_Missense_Mutation_p.V518I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V518I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V518I	p.V518I			P98196	AT11A_HUMAN			14	1640	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	518					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1552G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073491	0.20147	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.71	-7.82	0.01205	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.521161	0.22235	N	0.062777	T	0.40743	0.1129	N	0.12746	0.255	0.20196	N	0.999922	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.005;0.003	T	0.01684	-1.1296	10	0.59425	D	0.04	.	19.4759	0.94989	0.7785:0.0:0.2215:0.0	.	518;518;518	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	I	518	ENSP00000420387:V518I;ENSP00000364781:V518I;ENSP00000364796:V518I;ENSP00000283558:V518I	ENSP00000283558:V518I	V	+	1	0	ATP11A	112535331	0.001000	0.12720	0.000000	0.03702	0.117000	0.20001	0.052000	0.14163	-1.711000	0.01395	-0.997000	0.02515	GTC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		36	63	0	0	0	1	0	36	63				
CTNNA3	29119	broad.mit.edu	37	10	68940102	68940102	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68940102C>T	ENST00000433211.2	-	7	1194	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	CTNNA3_ENST00000373744.4_Silent_p.Q340Q|CTNNA3_ENST00000545309.1_Silent_p.Q340Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAAGCAGATCCTGAAGAGCCT	0.502																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1018-1020)caG>caA		catenin (cadherin-associated protein), alpha 3							114.0	101.0	105.0					10																	68940102		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940102C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1020G>A	10.37:g.68940102C>T						CTNNA3_ENST00000373744.4_Silent_p.Q340Q|CTNNA3_ENST00000545309.1_Silent_p.Q340Q|CTNNA3_ENST00000494580.1_5'UTR	p.Q340Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1194	-			340						Silent	SNP	ENST00000433211.2	37	c.1020G>A	CCDS7269.1																																																																																				0.502	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		15	21	0	0	0	1	0	15	21				
MYO18A	399687	broad.mit.edu	37	17	27437606	27437606	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27437606C>A	ENST00000527372.1	-	18	3115	c.2935G>T	c.(2935-2937)Ggc>Tgc	p.G979C	MYO18A_ENST00000533112.1_Missense_Mutation_p.G979C|MYO18A_ENST00000354329.4_Missense_Mutation_p.G979C|MYO18A_ENST00000531253.1_Missense_Mutation_p.G979C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	979	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGGCACTGCCTGCGCGGCCC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(2935-2937)Ggc>Tgc		myosin XVIIIA							39.0	44.0	42.0					17																	27437606		1980	4173	6153	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437606C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2935G>T	17.37:g.27437606C>A	ENSP00000437073:p.Gly979Cys					MYO18A_ENST00000354329.4_Missense_Mutation_p.G979C|MYO18A_ENST00000533112.1_Missense_Mutation_p.G979C|MYO18A_ENST00000531253.1_Missense_Mutation_p.G979C	p.G979C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		18	3115	-			979			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.2935G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094069	0.76870	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.75	4.77	0.60923	Myosin head, motor domain (2);	0.253211	0.46442	D	0.000294	D	0.92861	0.7729	M	0.80746	2.51	0.46185	D	0.998917	D;D;D;D;D	0.76494	0.992;0.999;0.999;0.999;0.999	P;D;D;D;D	0.72075	0.882;0.912;0.939;0.939;0.976	D	0.93280	0.6659	10	0.87932	D	0	.	13.3935	0.60836	0.0:0.8716:0.0:0.1284	.	648;591;979;979;979	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	C	979;979;979;979;979;591	ENSP00000346291:G979C;ENSP00000435932:G979C;ENSP00000434228:G979C;ENSP00000437073:G979C	ENSP00000346291:G979C	G	-	1	0	MYO18A	24461732	0.794000	0.28838	0.789000	0.31954	0.997000	0.91878	1.665000	0.37449	2.717000	0.92951	0.561000	0.74099	GGC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		7	9	1	0	0.00198382	1	0.0020125	7	9				
SLC45A2	51151	broad.mit.edu	37	5	33951686	33951686	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:33951686T>C	ENST00000296589.4	-	5	1275	c.1129A>G	c.(1129-1131)Aac>Gac	p.N377D	SLC45A2_ENST00000342059.3_Missense_Mutation_p.N318D|SLC45A2_ENST00000345083.5_Missense_Mutation_p.N269D|SLC45A2_ENST00000382102.3_Missense_Mutation_p.N377D|SLC45A2_ENST00000509381.1_3'UTR	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	377					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACACGGAGTTGATGCACAAG	0.433																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1129-1131)Aac>Gac		solute carrier family 45, member 2							162.0	138.0	146.0					5																	33951686		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33951686T>C	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1129A>G	5.37:g.33951686T>C	ENSP00000296589:p.Asn377Asp					SLC45A2_ENST00000296589.4_Missense_Mutation_p.N377D|SLC45A2_ENST00000342059.3_Missense_Mutation_p.N318D|SLC45A2_ENST00000345083.5_Missense_Mutation_p.N269D|SLC45A2_ENST00000509381.1_3'UTR	p.N377D	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			5	1186	-			377					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1129A>G	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472507	0.84640	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	D;D;D;D;D	0.89485	-1.55;-1.55;-1.55;-1.55;-2.52	6.08	6.08	0.98989	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.69248	2.105	0.35618	D	0.809201	D;B	0.76494	0.999;0.236	D;B	0.71656	0.974;0.261	D	0.95362	0.8456	10	0.46703	T	0.11	-24.8651	16.6438	0.85155	0.0:0.0:0.0:1.0	.	377;377	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	D	377;318;377;202;269	ENSP00000296589:N377D;ENSP00000341014:N318D;ENSP00000371534:N377D;ENSP00000424010:N202D;ENSP00000340444:N269D	ENSP00000296589:N377D	N	-	1	0	SLC45A2	33987443	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.765000	0.85310	2.333000	0.79357	0.533000	0.62120	AAC		0.433	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		40	48	0	0	0	1	0	40	48				
ADAM29	11086	broad.mit.edu	37	4	175896956	175896956	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:175896956C>T	ENST00000359240.3	+	5	950	c.280C>T	c.(280-282)Cca>Tca	p.P94S	ADAM29_ENST00000514159.1_Missense_Mutation_p.P94S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P94S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P94S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	94					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGAGGACCAGCCATTTGTCCA	0.453																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(280-282)Cca>Tca		ADAM metallopeptidase domain 29							52.0	53.0	53.0					4																	175896956		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896956C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.280C>T	4.37:g.175896956C>T	ENSP00000352177:p.Pro94Ser					ADAM29_ENST00000404450.4_Missense_Mutation_p.P94S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P94S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P94S	p.P94S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	950	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	94					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.280C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877339	0.33162	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	3.77	2.02	0.26589	Peptidase M12B, propeptide (1);	0.000000	0.36002	U	0.002841	T	0.21921	0.0528	M	0.76727	2.345	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02588	-1.1137	9	.	.	.	.	5.1273	0.14892	0.0:0.6696:0.2139:0.1165	.	94	Q9UKF5	ADA29_HUMAN	S	94	ENSP00000352177:P94S;ENSP00000414544:P94S;ENSP00000384229:P94S;ENSP00000423517:P94S	.	P	+	1	0	ADAM29	176133531	0.780000	0.28664	0.034000	0.17996	0.448000	0.32197	2.711000	0.47177	0.562000	0.29204	-0.169000	0.13324	CCA		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				24	30	0	0	0	1	0	24	30				
DECR2	26063	broad.mit.edu	37	16	457453	457453	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:457453G>A	ENST00000219481.5	+	4	368	c.230G>A	c.(229-231)gGc>gAc	p.G77D	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.G65D|DECR2_ENST00000397710.1_Missense_Mutation_p.G128D	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	77					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGGGCCACCGGCCGGCGCTGC	0.637																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(229-231)gGc>gAc		2,4-dienoyl CoA reductase 2, peroxisomal							29.0	34.0	32.0					16																	457453		2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:457453G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.230G>A	16.37:g.457453G>A	ENSP00000219481:p.Gly77Asp					DECR2_ENST00000461947.1_Intron|DECR2_ENST00000397710.1_Missense_Mutation_p.G128D|DECR2_ENST00000424398.2_Missense_Mutation_p.G65D	p.G77D	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			4	368	+		Hepatocellular(16;0.00015)	77					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.230G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	g	17.71	3.456373	0.63401	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	NAD(P)-binding domain (1);	0.046978	0.85682	D	0.000000	T	0.67126	0.2860	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72418	-0.4300	10	0.62326	D	0.03	.	15.1954	0.73084	0.0:0.0:1.0:0.0	.	77	Q9NUI1	DECR2_HUMAN	D	77;128;65	ENSP00000219481:G77D;ENSP00000400374:G65D	ENSP00000219481:G77D	G	+	2	0	DECR2	397454	1.000000	0.71417	0.356000	0.25785	0.165000	0.22458	9.213000	0.95133	2.253000	0.74438	0.556000	0.70494	GGC		0.637	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		13	25	0	0	0	1	0	13	25				
TOX3	27324	broad.mit.edu	37	16	52484395	52484395	+	Missense_Mutation	SNP	C	C	T	rs369028802		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:52484395C>T	ENST00000219746.9	-	4	756	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	TOX3_ENST00000407228.3_Missense_Mutation_p.V153I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	158					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTCATGTGGACGATGGACCGC	0.567																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(472-474)Gtc>Atc		TOX high mobility group box family member 3		C	ILE/VAL,ILE/VAL	0,4224		0,0,2112	106.0	112.0	110.0		472,457	4.9	1.0	16		110	1,8451		0,1,4225	no	missense,missense	TOX3	NM_001080430.2,NM_001146188.1	29,29	0,1,6337	TT,TC,CC		0.0118,0.0,0.0079	benign,benign	158/577,153/572	52484395	1,12675	2112	4226	6338	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484395C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.472G>A	16.37:g.52484395C>T	ENSP00000219746:p.Val158Ile					TOX3_ENST00000407228.3_Missense_Mutation_p.V153I	p.V158I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	756	-			158					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.472G>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656664	0.29425	0.0	1.18E-4	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.54866	0.55;0.55	5.85	4.9	0.64082	.	0.218239	0.38605	N	0.001638	T	0.43478	0.1249	L	0.37561	1.115	0.36587	D	0.873888	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.43637	-0.9379	10	0.25106	T	0.35	.	15.2427	0.73482	0.0:0.9324:0.0:0.0676	.	153;158	B4DRD0;O15405	.;TOX3_HUMAN	I	158;153	ENSP00000219746:V158I;ENSP00000385705:V153I	ENSP00000219746:V158I	V	-	1	0	TOX3	51041896	1.000000	0.71417	0.999000	0.59377	0.031000	0.12232	3.339000	0.52135	1.483000	0.48342	0.563000	0.77884	GTC		0.567	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		12	53	0	0	0	1	0	12	53				
GPR124	25960	broad.mit.edu	37	8	37698931	37698931	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37698931G>A	ENST00000412232.2	+	19	3088	c.3075G>A	c.(3073-3075)acG>acA	p.T1025T	GPR124_ENST00000315215.7_Silent_p.T808T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1025					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGTGACCACGCACTTCCTGT	0.682																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2422-2424)acG>acA		G protein-coupled receptor 124							27.0	27.0	27.0					8																	37698931		2202	4299	6501	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698931G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3075G>A	8.37:g.37698931G>A						GPR124_ENST00000412232.2_Silent_p.T1025T	p.T808T			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2787	+			1025					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.2424G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218813	0.22373	.	.	ENSG00000020181	ENST00000416514	.	.	.	4.95	1.91	0.25777	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45469	-0.9259	4	.	.	.	-19.9603	5.0396	0.14452	0.0897:0.2864:0.5075:0.1164	.	.	.	.	T	1018	.	.	A	+	1	0	GPR124	37818089	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	-1.615000	0.02055	1.079000	0.41038	0.650000	0.86243	GCA		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	14	0	0	0	1	0	4	14				
RP9	6100	broad.mit.edu	37	7	33136124	33136124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:33136124G>A	ENST00000297157.3	-	5	465	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	150	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R150*(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTTCATGTCGTTTATTGTCT	0.373																																						ENST00000297157.3																			2	Substitution - Nonsense(2)	p.R150*(2)	large_intestine(2)	large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(448-450)Cga>Tga		retinitis pigmentosa 9 (autosomal dominant)							266.0	223.0	237.0					7																	33136124		2203	4300	6503	SO:0001587	stop_gained	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136124G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.448C>T	7.37:g.33136124G>A	ENSP00000297157:p.Arg150*						p.R150*	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		5	465	-			150			PIM1-binding (By similarity).			Nonsense_Mutation	SNP	ENST00000297157.3	37	c.448C>T	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282275	0.80692	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	.	.	.	3.66	0.932	0.19466	.	0.120359	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8648	9.5843	0.39506	0.0:0.0:0.5931:0.4069	.	.	.	.	X	150;116	.	ENSP00000297157:R150X	R	-	1	2	RP9	33102649	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.989000	0.40707	0.535000	0.28714	-0.602000	0.04101	CGA		0.373	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		27	33	0	0	0	1	0	27	33				
ACLY	47	broad.mit.edu	37	17	40062868	40062868	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40062868C>T	ENST00000352035.2	-	8	909	c.779G>A	c.(778-780)aGt>aAt	p.S260N	ACLY_ENST00000590151.1_Missense_Mutation_p.S260N|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.S260N|ACLY_ENST00000353196.1_Missense_Mutation_p.S260N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	260	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCTTGCCCCACTTTTGGCATC	0.612																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(778-780)aGt>aAt		ATP citrate lyase							132.0	120.0	124.0					17																	40062868		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40062868C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.779G>A	17.37:g.40062868C>T	ENSP00000253792:p.Ser260Asn					ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Missense_Mutation_p.S260N|ACLY_ENST00000393896.2_Missense_Mutation_p.S260N|ACLY_ENST00000590151.1_Missense_Mutation_p.S260N	p.S260N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			8	909	-		Breast(137;0.000143)	260					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.779G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445271	0.96187	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.81163	-1.46;-1.46;-1.46	5.76	5.76	0.90799	Succinyl-CoA synthetase-like (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.88310	2.945	0.80722	D	1	B;B;P;B	0.37441	0.234;0.125;0.595;0.234	B;B;B;B	0.35470	0.035;0.021;0.203;0.024	D	0.86955	0.2088	10	0.87932	D	0	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	314;314;260;260	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	N	260;314;260;260	ENSP00000253792:S260N;ENSP00000345398:S260N;ENSP00000377474:S260N	ENSP00000253792:S260N	S	-	2	0	ACLY	37316394	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.574000	0.82434	2.879000	0.98667	0.650000	0.86243	AGT		0.612	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		27	36	0	0	0	1	0	27	36				
SPEN	23013	broad.mit.edu	37	1	16255500	16255500	+	Missense_Mutation	SNP	C	C	T	rs140341054		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16255500C>T	ENST00000375759.3	+	11	2969	c.2765C>T	c.(2764-2766)aCg>aTg	p.T922M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	922					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCTCTCAGACGGAGCCTGCA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19899	0.0		0.001	False		,,,				2504	0.0					ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2764-2766)aCg>aTg		spen family transcriptional repressor		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	151.0	167.0	161.0		2765	2.1	0.0	1	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SPEN	NM_015001.2	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	922/3665	16255500	3,13003	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255500C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2765C>T	1.37:g.16255500C>T	ENSP00000364912:p.Thr922Met						p.T922M	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2969	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	922					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2765C>T	CCDS164.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	1.696	-0.502674	0.04261	2.27E-4	2.33E-4	ENSG00000065526	ENST00000375759	T	0.48522	0.81	5.2	2.12	0.27331	.	.	.	.	.	T	0.33962	0.0881	L	0.36672	1.1	0.09310	N	1	B	0.21147	0.052	B	0.12156	0.007	T	0.24261	-1.0165	9	0.48119	T	0.1	-16.108	5.4315	0.16456	0.0:0.6115:0.1425:0.246	.	922	Q96T58	MINT_HUMAN	M	922	ENSP00000364912:T922M	ENSP00000364912:T922M	T	+	2	0	SPEN	16128087	0.000000	0.05858	0.002000	0.10522	0.910000	0.53928	-0.005000	0.12855	0.265000	0.21872	0.655000	0.94253	ACG		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		78	127	0	0	0	1	0	78	127				
ZNF18	7566	broad.mit.edu	37	17	11886664	11886664	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11886664G>A	ENST00000322748.3	-	8	1416	c.812C>T	c.(811-813)gCa>gTa	p.A271V	ZNF18_ENST00000454073.3_Missense_Mutation_p.A270V|ZNF18_ENST00000580306.2_Missense_Mutation_p.A271V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	271	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTATATTCCTGCCAGCTCTTC	0.433																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(811-813)gCa>gTa		zinc finger protein 18							118.0	115.0	116.0					17																	11886664		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11886664G>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.812C>T	17.37:g.11886664G>A	ENSP00000315664:p.Ala271Val					ZNF18_ENST00000580613.1_Missense_Mutation_p.A219V|ZNF18_ENST00000580306.1_Missense_Mutation_p.A271V|ZNF18_ENST00000454073.3_Missense_Mutation_p.A270V	p.A271V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	8	1416	-			271			KRAB.		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.812C>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.302052	0.05495	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06294	3.32	4.4	0.963	0.19649	Krueppel-associated box (2);	0.663487	0.13378	N	0.392322	T	0.02929	0.0087	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45891	-0.9230	10	0.19147	T	0.46	0.0278	1.8664	0.03199	0.1191:0.1898:0.4664:0.2247	.	270;271	P17022-2;P17022	.;ZNF18_HUMAN	V	271	ENSP00000315664:A271V	ENSP00000315664:A271V	A	-	2	0	ZNF18	11827389	0.000000	0.05858	0.063000	0.19743	0.040000	0.13550	0.345000	0.19979	0.470000	0.27294	0.563000	0.77884	GCA		0.433	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		30	54	0	0	0	1	0	30	54				
PCDHA8	56140	broad.mit.edu	37	5	140222774	140222774	+	Missense_Mutation	SNP	G	G	A	rs200720426		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140222774G>A	ENST00000531613.1	+	1	1868	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R623H|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623H(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCGCGTGGGGCTG	0.642																																						ENST00000531613.1																			2	Substitution - Missense(2)	p.R623H(2)	lung(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1867-1869)cGc>cAc									99.0	98.0	99.0					5																	140222774		2198	4271	6469	SO:0001583	missense	0							g.chr5:140222774G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1868G>A	5.37:g.140222774G>A	ENSP00000434655:p.Arg623His					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R623H|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.R623H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1868	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1868G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719768	0.30503	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.55413	0.52;0.52	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.32533	U	0.005979	T	0.48132	0.1483	M	0.75615	2.305	0.25180	N	0.990217	P;P	0.41748	0.469;0.761	B;B	0.35278	0.12;0.199	T	0.53851	-0.8380	10	0.66056	D	0.02	.	10.5457	0.45058	0.0:0.1973:0.8027:0.0	.	623;623	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	623	ENSP00000434655:R623H;ENSP00000367363:R623H	ENSP00000367363:R623H	R	+	2	0	PCDHA8	140202958	0.000000	0.05858	0.998000	0.56505	0.072000	0.16883	0.223000	0.17719	1.624000	0.50355	0.313000	0.20887	CGC		0.642	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		38	60	0	0	0	1	0	38	60				
NOL9	79707	broad.mit.edu	37	1	6589156	6589156	+	Missense_Mutation	SNP	C	C	T	rs150821604	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6589156C>T	ENST00000377705.5	-	10	1755	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	575					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAGCTGGCGTTTACAGCA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.002					ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1723-1725)Gcc>Acc		nucleolar protein 9		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	94.0	99.0		1723	4.9	1.0	1	dbSNP_134	99	0,8600		0,0,4300	no	missense	NOL9	NM_024654.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	575/703	6589156	1,13005	2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6589156C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1723G>A	1.37:g.6589156C>T	ENSP00000366934:p.Ala575Thr						p.A575T	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	10	1755	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	575					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1723G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952221	0.73787	2.27E-4	0.0	ENSG00000162408	ENST00000377705	T	0.44083	0.93	5.77	4.86	0.63082	Pre-mRNA cleavage complex II Clp1 (1);	0.135645	0.50627	D	0.000111	T	0.64713	0.2623	M	0.83483	2.645	0.48632	D	0.999688	D	0.89917	1.0	D	0.71414	0.973	T	0.67377	-0.5686	10	0.42905	T	0.14	-30.1186	12.7135	0.57102	0.0:0.9205:0.0:0.0794	.	575	Q5SY16	NOL9_HUMAN	T	575	ENSP00000366934:A575T	ENSP00000366934:A575T	A	-	1	0	NOL9	6511743	1.000000	0.71417	0.985000	0.45067	0.429000	0.31625	6.419000	0.73345	1.444000	0.47605	0.561000	0.74099	GCC		0.507	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		13	29	0	0	0	1	0	13	29				
GPR26	2849	broad.mit.edu	37	10	125426420	125426420	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125426420G>A	ENST00000284674.1	+	1	550	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	166					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGACGAGCGCCTGCGCTTC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGc>cAc		G protein-coupled receptor 26							23.0	20.0	21.0					10																	125426420		2203	4299	6502	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426420G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.497G>A	10.37:g.125426420G>A	ENSP00000284674:p.Arg166His						p.R166H	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	550	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	166					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.497G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373110	0.42105	.	.	ENSG00000154478	ENST00000284674	T	0.37411	1.2	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.506639	0.20088	N	0.099508	T	0.15998	0.0385	N	0.14661	0.345	0.41330	D	0.987239	P	0.43826	0.818	B	0.32624	0.149	T	0.05784	-1.0864	10	0.15499	T	0.54	-28.0964	10.0662	0.42306	0.0932:0.0:0.9068:0.0	.	166	Q8NDV2	GPR26_HUMAN	H	166	ENSP00000284674:R166H	ENSP00000284674:R166H	R	+	2	0	GPR26	125416410	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.617000	0.46385	2.067000	0.61834	0.655000	0.94253	CGC		0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			7	11	0	0	0	1	0	7	11				
MESDC1	59274	broad.mit.edu	37	15	81295207	81295207	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81295207G>A	ENST00000267984.2	+	1	1913	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	199										endometrium(1)|lung(2)	3						GGACGCGTGCGCCCTGGCCAG	0.687																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(595-597)Gcc>Acc		mesoderm development candidate 1							29.0	30.0	30.0					15																	81295207		2198	4292	6490	SO:0001583	missense	59274							g.chr15:81295207G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.595G>A	15.37:g.81295207G>A	ENSP00000267984:p.Ala199Thr						p.A199T	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	1913	+			199						Missense_Mutation	SNP	ENST00000267984.2	37	c.595G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672460	0.47781	.	.	ENSG00000140406	ENST00000267984	T	0.08458	3.09	4.43	4.43	0.53597	.	0.244563	0.34362	N	0.004032	T	0.05090	0.0136	N	0.14661	0.345	0.33323	D	0.567593	B	0.33022	0.394	B	0.22386	0.039	T	0.28138	-1.0053	10	0.14656	T	0.56	-11.6374	17.3875	0.87421	0.0:0.0:1.0:0.0	.	199	Q9H1K6	MESD1_HUMAN	T	199	ENSP00000267984:A199T	ENSP00000267984:A199T	A	+	1	0	MESDC1	79082262	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.272000	0.65559	2.145000	0.66743	0.462000	0.41574	GCC		0.687	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		6	3	0	0	0	1	0	6	3				
PPP6R1	22870	broad.mit.edu	37	19	55743183	55743183	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55743183C>T	ENST00000412770.2	-	19	2859	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	PPP6R1_ENST00000587283.1_Missense_Mutation_p.A765T|AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	765	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						AGCTGCAGGGCGTCACGGGCA	0.677																																						ENST00000412770.2																			0				breast(1)	1						c.(2293-2295)Gcc>Acc		protein phosphatase 6, regulatory subunit 1							11.0	13.0	12.0					19																	55743183		1966	4138	6104	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55743183C>T	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2293G>A	19.37:g.55743183C>T	ENSP00000414202:p.Ala765Thr					PPP6R1_ENST00000587283.1_Missense_Mutation_p.A765T	p.A765T	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			19	2859	-			765			Pro-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.2293G>A	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805527	0.16467	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.49139	0.79	3.55	-2.83	0.05769	.	1.458410	0.04379	N	0.360416	T	0.22399	0.0540	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.09422	-1.0675	10	0.16420	T	0.52	-1.6611	3.5666	0.07903	0.1893:0.3343:0.0:0.4764	.	765;127	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	T	280;765	ENSP00000414202:A765T	ENSP00000414202:A765T	A	-	1	0	PPP6R1	60434995	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.521000	0.06245	-0.429000	0.07329	-0.258000	0.10820	GCC		0.677	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		5	3	0	0	0	1	0	5	3				
GDF11	10220	broad.mit.edu	37	12	56143436	56143436	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56143436G>A	ENST00000257868.5	+	3	1031	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	332					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGGATCATCGCACCTAAGCG	0.562																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(994-996)Gca>Aca		growth differentiation factor 11							139.0	128.0	131.0					12																	56143436		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143436G>A	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.994G>A	12.37:g.56143436G>A	ENSP00000257868:p.Ala332Thr						p.A332T	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			3	1031	+			332					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.994G>A	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177034	0.78564	.	.	ENSG00000135414	ENST00000257868	D	0.84730	-1.89	4.86	4.86	0.63082	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96775	0.9571	10	0.87932	D	0	-8.0449	15.8644	0.79052	0.0:0.0:1.0:0.0	.	332	O95390	GDF11_HUMAN	T	332	ENSP00000257868:A332T	ENSP00000257868:A332T	A	+	1	0	GDF11	54429703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.422000	0.82143	0.491000	0.48974	GCA		0.562	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			54	81	0	0	0	1	0	54	81				
DSC1	1823	broad.mit.edu	37	18	28714037	28714037	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28714037G>A	ENST00000257198.5	-	13	2194	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.P645S	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	645	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P645S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGAATAGGCACAGAATAA	0.348																																						ENST00000257197.3																			2	Substitution - Missense(2)	p.P645S(2)	large_intestine(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1933-1935)Cct>Tct		desmocollin 1							121.0	120.0	121.0					18																	28714037		2203	4299	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28714037G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1933C>T	18.37:g.28714037G>A	ENSP00000257198:p.Pro645Ser					DSC1_ENST00000257198.5_Missense_Mutation_p.P645S|RP11-408H20.2_ENST00000581836.1_RNA	p.P645S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2194	-			645			Cadherin 5.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1933C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523993	0.44866	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60797	0.16;0.16	5.73	4.85	0.62838	Cadherin (2);Cadherin-like (1);	0.260033	0.27393	N	0.019572	T	0.79505	0.4457	M	0.87682	2.9	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83619	0.0138	10	0.66056	D	0.02	.	16.3177	0.82934	0.0:0.1328:0.8672:0.0	.	645;645	Q08554;Q9HB00	DSC1_HUMAN;.	S	645	ENSP00000257197:P645S;ENSP00000257198:P645S	ENSP00000257197:P645S	P	-	1	0	DSC1	26968035	0.997000	0.39634	0.984000	0.44739	0.048000	0.14542	2.961000	0.49168	1.400000	0.46741	-0.291000	0.09656	CCT		0.348	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		37	48	0	0	0	1	0	37	48				
OR4C6	219432	broad.mit.edu	37	11	55433499	55433499	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55433499C>T	ENST00000314259.3	+	1	886	c.857C>T	c.(856-858)aCa>aTa	p.T286I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGATCTATACACTGAGGAAT	0.438																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(856-858)aCa>aTa		olfactory receptor, family 4, subfamily C, member 6							85.0	84.0	84.0					11																	55433499		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433499C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.857C>T	11.37:g.55433499C>T	ENSP00000324769:p.Thr286Ile						p.T286I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	886	+			286					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.857C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359898	0.24598	.	.	ENSG00000181903	ENST00000314259	T	0.36157	1.27	4.0	1.88	0.25563	.	0.187206	0.25941	N	0.027317	T	0.48187	0.1486	M	0.91612	3.225	0.09310	N	0.999994	B	0.24651	0.108	B	0.29942	0.109	T	0.53528	-0.8426	10	0.66056	D	0.02	.	12.2515	0.54601	0.0:0.5074:0.4926:0.0	.	286	Q8NH72	OR4C6_HUMAN	I	286	ENSP00000324769:T286I	ENSP00000324769:T286I	T	+	2	0	OR4C6	55190075	0.000000	0.05858	0.165000	0.22776	0.724000	0.41520	0.317000	0.19487	0.660000	0.30964	0.530000	0.56133	ACA		0.438	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		21	24	0	0	0	1	0	21	24				
DDX1	1653	broad.mit.edu	37	2	15747405	15747405	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15747405G>A	ENST00000381341.2	+	14	1313	c.924G>A	c.(922-924)caG>caA	p.Q308Q	DDX1_ENST00000233084.3_Silent_p.Q308Q			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	308	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ACATCAAGCAGTTTAAGAAAT	0.363																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(922-924)caG>caA		DEAD (Asp-Glu-Ala-Asp) box helicase 1							88.0	88.0	88.0					2																	15747405		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15747405G>A	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.924G>A	2.37:g.15747405G>A						DDX1_ENST00000233084.3_Silent_p.Q308Q	p.Q308Q			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	14	1313	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	308			Helicase ATP-binding.|Necessary for interaction with RELA.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.924G>A	CCDS1686.1																																																																																				0.363	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		30	38	0	0	0	1	0	30	38				
SZT2	23334	broad.mit.edu	37	1	43908202	43908202	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43908202A>G	ENST00000562955.1	+	57	7893	c.7893A>G	c.(7891-7893)cgA>cgG	p.R2631R	SZT2_ENST00000372442.1_Silent_p.R1789R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2688					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAATGCACGAGCCCATCTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7891-7893)cgA>cgG		seizure threshold 2 homolog (mouse)							80.0	81.0	81.0					1																	43908202		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43908202A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7893A>G	1.37:g.43908202A>G						SZT2_ENST00000372442.1_Silent_p.R1789R	p.R2631R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			57	7893	+			2688					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.7893A>G	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		31	42	0	0	0	1	0	31	42				
CLCA4	22802	broad.mit.edu	37	1	87045161	87045161	+	Silent	SNP	G	G	A	rs545838885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87045161G>A	ENST00000370563.3	+	13	2289	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	749					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GCCTTCCCTTGCCTGACCAAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.001					ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2245-2247)ttG>ttA		chloride channel accessory 4							131.0	122.0	125.0					1																	87045161		1961	4152	6113	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045161G>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2247G>A	1.37:g.87045161G>A						RP4-651E10.4_ENST00000456587.1_RNA	p.L749L	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	13	2289	+		Lung NSC(277;0.238)	749					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.2247G>A	CCDS41355.1																																																																																				0.463	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		30	53	0	0	0	1	0	30	53				
STAB2	55576	broad.mit.edu	37	12	104089546	104089546	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104089546C>T	ENST00000388887.2	+	33	3710	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V		NM_017564.9	NP_060034.9			stabilin 2									p.A1169V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGAGGCTGCCGATGCCTAC	0.458																																						ENST00000388887.2																			1	Substitution - Missense(1)	p.A1169V(1)	endometrium(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3505-3507)gCc>gTc		stabilin 2							108.0	101.0	103.0					12																	104089546		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089546C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3506C>T	12.37:g.104089546C>T	ENSP00000373539:p.Ala1169Val						p.A1169V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			33	3710	+			1169			FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3506C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116907	0.77323	.	.	ENSG00000136011	ENST00000388887	D	0.90844	-2.74	6.17	6.17	0.99709	FAS1 domain (4);Growth factor, receptor (1);	0.057725	0.64402	D	0.000002	D	0.95560	0.8557	M	0.79258	2.445	0.47778	D	0.99951	D	0.89917	1.0	D	0.91635	0.999	D	0.93764	0.7069	10	0.39692	T	0.17	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1169	Q8WWQ8	STAB2_HUMAN	V	1169	ENSP00000373539:A1169V	ENSP00000373539:A1169V	A	+	2	0	STAB2	102613676	1.000000	0.71417	0.953000	0.39169	0.185000	0.23345	6.019000	0.70818	2.941000	0.99782	0.655000	0.94253	GCC		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	37	0	0	0	1	0	19	37				
GRHL3	57822	broad.mit.edu	37	1	24673992	24673992	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24673992G>A	ENST00000350501.5	+	14	1705	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	GRHL3_ENST00000342072.4_Silent_p.V433V|GRHL3_ENST00000236255.4_Silent_p.V531V|GRHL3_ENST00000361548.4_Silent_p.V526V|GRHL3_ENST00000356046.2_Silent_p.V480V	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	526					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGAGGAGGTGTTTGACGCGC	0.582																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1576-1578)gtG>gtA		grainyhead-like 3 (Drosophila)							184.0	170.0	175.0					1																	24673992		2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24673992G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1578G>A	1.37:g.24673992G>A						GRHL3_ENST00000356046.2_Silent_p.V480V|GRHL3_ENST00000342072.4_Silent_p.V433V|GRHL3_ENST00000350501.5_Silent_p.V526V|GRHL3_ENST00000236255.4_Silent_p.V531V	p.V526V	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	14	1808	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	526					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.1578G>A	CCDS252.2																																																																																				0.582	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		9	68	0	0	0	1	0	9	68				
SLC36A2	153201	broad.mit.edu	37	5	150718707	150718707	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150718707T>C	ENST00000335244.4	-	5	570		c.e5-2		SLC36A2_ENST00000521967.1_Splice_Site	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2						amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ACGATATGCCTAGAAGGGAGA	0.408																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.e5-2		solute carrier family 36 (proton/amino acid symporter), member 2							103.0	102.0	103.0					5																	150718707		2203	4300	6503	SO:0001630	splice_region_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150718707T>C	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.441-2A>G	5.37:g.150718707T>C						SLC36A2_ENST00000521967.1_Splice_Site		NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	570	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)						Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Splice_Site	SNP	ENST00000335244.4	37		CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238785	0.79800	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4851	0.61359	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC36A2	150698900	1.000000	0.71417	0.169000	0.22859	0.730000	0.41778	7.218000	0.77991	1.914000	0.55421	0.378000	0.23410	.		0.408	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		Intron	29	39	0	0	0	1	0	29	39				
RNF123	63891	broad.mit.edu	37	3	49735362	49735362	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49735362C>T	ENST00000327697.6	+	6	531	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACCACATGCGTGTACAAAG	0.562																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(385-387)tgC>tgT		ring finger protein 123							313.0	273.0	286.0					3																	49735362		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735362C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.387C>T	3.37:g.49735362C>T						RNF123_ENST00000432042.1_5'UTR	p.C129C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	531	+			129			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.387C>T	CCDS33758.1																																																																																				0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		90	147	0	0	0	1	0	90	147				
PTPN18	26469	broad.mit.edu	37	2	131116855	131116855	+	Silent	SNP	C	C	T	rs375420437		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131116855C>T	ENST00000175756.5	+	3	353	c.252C>T	c.(250-252)agC>agT	p.S84S	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	84	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					AGGGACACAGCGACTACATTA	0.557																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(250-252)agC>agT		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							98.0	100.0	99.0					2																	131116855		2203	4300	6503	SO:0001819	synonymous_variant	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116855C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.252C>T	2.37:g.131116855C>T						PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.S84S	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			3	353	+	Colorectal(110;0.1)		84			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	c.252C>T	CCDS2161.1																																																																																				0.557	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			22	35	0	0	0	1	0	22	35				
CYP4F22	126410	broad.mit.edu	37	19	15640580	15640580	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15640580G>A	ENST00000269703.3	+	4	482	c.283G>A	c.(283-285)Gta>Ata	p.V95I	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V95I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	95						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CATGCACCATGTACTCTTGGT	0.547																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(283-285)Gta>Ata		cytochrome P450, family 4, subfamily F, polypeptide 22							196.0	143.0	161.0					19																	15640580		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15640580G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.283G>A	19.37:g.15640580G>A	ENSP00000269703:p.Val95Ile					CYP4F22_ENST00000601005.2_Missense_Mutation_p.V95I	p.V95I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			4	482	+			95					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.283G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985699	0.18889	.	.	ENSG00000171954	ENST00000269703	D	0.88046	-2.33	5.23	3.07	0.35406	.	0.677726	0.15008	N	0.285756	T	0.67154	0.2863	N	0.02120	-0.675	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.53063	-0.8491	10	0.16896	T	0.51	.	9.5252	0.39160	0.2611:0.0:0.7389:0.0	.	95	Q6NT55	CP4FN_HUMAN	I	95	ENSP00000269703:V95I	ENSP00000269703:V95I	V	+	1	0	CYP4F22	15501580	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.615000	0.24329	0.201000	0.20466	-1.598000	0.00824	GTA		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		19	29	0	0	0	1	0	19	29				
POMGNT2	84892	broad.mit.edu	37	3	43121705	43121705	+	Missense_Mutation	SNP	G	G	A	rs138480528	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43121705G>A	ENST00000344697.2	-	2	1564	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R407W	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	407					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TCCCAGGGCCGCTCAGGGTGT	0.612													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22213	0.0		0.0	False		,,,				2504	0.0					ENST00000344697.2																			0											c.(1219-1221)Cgg>Tgg				G	TRP/ARG	7,4399	14.3+/-33.2	0,7,2196	55.0	51.0	53.0		1219	5.5	1.0	3	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C3orf39	NM_032806.4	101	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	407/581	43121705	8,12998	2203	4300	6503	SO:0001583	missense	0							g.chr3:43121705G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1219C>T	3.37:g.43121705G>A	ENSP00000344125:p.Arg407Trp					GTDC2_ENST00000441964.1_Missense_Mutation_p.R407W	p.R407W	NM_032806.4	NP_116195.2					2	1564	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1219C>T	CCDS2709.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.52	3.409602	0.62399	0.001589	1.16E-4	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.78924	-1.22;-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.83223	2.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88947	0.3384	10	0.56958	D	0.05	-12.3659	14.0504	0.64732	0.0:0.0:0.8395:0.1605	.	407	Q8NAT1	AGO61_HUMAN	W	407	ENSP00000408992:R407W;ENSP00000344125:R407W	ENSP00000344125:R407W	R	-	1	2	C3orf39	43096709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.595000	0.46197	2.614000	0.88457	0.650000	0.86243	CGG		0.612	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		5	23	0	0	0	1	0	5	23				
ABCA1	19	broad.mit.edu	37	9	107589250	107589250	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107589250G>A	ENST00000374736.3	-	16	2710	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	772					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGAGTGTGAAGCCCACGTAGT	0.537																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2314-2316)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						108.0	93.0	98.0					9																	107589250		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107589250G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2316C>T	9.37:g.107589250G>A						ABCA1_ENST00000494467.1_5'UTR	p.G772G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	16	2710	-			772					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.2316C>T	CCDS6762.1																																																																																				0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	14	0	0	0	1	0	6	14				
UHMK1	127933	broad.mit.edu	37	1	162469789	162469789	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162469789C>T	ENST00000489294.1	+	2	471	c.313C>T	c.(313-315)Cca>Tca	p.P105S	UHMK1_ENST00000545294.1_Missense_Mutation_p.P31S|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.P105S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCAAATGTGCCATCACGCTG	0.383																																						ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(313-315)Cca>Tca		U2AF homology motif (UHM) kinase 1							217.0	196.0	204.0					1																	162469789		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162469789C>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.313C>T	1.37:g.162469789C>T	ENSP00000420270:p.Pro105Ser					UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.P31S|UHMK1_ENST00000538489.1_Missense_Mutation_p.P105S	p.P105S	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	471	+	all_hematologic(112;0.115)		105			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.313C>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233015	0.39498	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.63255	-0.03;-0.03;-0.03	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.181870	0.50627	D	0.000118	T	0.28699	0.0711	N	0.10809	0.05	.	.	.	B;B;B	0.13145	0.002;0.003;0.007	B;B;B	0.15484	0.013;0.013;0.007	T	0.07539	-1.0767	9	0.25751	T	0.34	-18.4864	16.4617	0.84056	0.0:1.0:0.0:0.0	.	105;105;31	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	S	31;105;105	ENSP00000441226:P31S;ENSP00000446416:P105S;ENSP00000420270:P105S	ENSP00000420270:P105S	P	+	1	0	UHMK1	160736413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.622000	0.46427	2.739000	0.93911	0.655000	0.94253	CCA		0.383	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		24	82	0	0	0	1	0	24	82				
PXK	54899	broad.mit.edu	37	3	58351637	58351637	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58351637G>A	ENST00000356151.2	+	2	248	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PXK_ENST00000302779.5_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.E47K|PXK_ENST00000383715.4_Intron|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Intron|PXK_ENST00000383716.3_Intron|PXK_ENST00000479241.1_Intron	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AATTTCTGTGGAAAACAGCTG	0.353																																						ENST00000356151.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(139-141)Gaa>Aaa		PX domain containing serine/threonine kinase							44.0	46.0	45.0					3																	58351637		2201	4298	6499	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58351637G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.139G>A	3.37:g.58351637G>A	ENSP00000348472:p.Glu47Lys					PXK_ENST00000463280.1_Intron|PXK_ENST00000536660.1_Intron|PXK_ENST00000302779.5_Intron|PXK_ENST00000383715.4_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.E47K|PXK_ENST00000479241.1_Intron|PXK_ENST00000383716.3_Intron	p.E47K	NM_017771.3	NP_060241.2	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	2	248	+			47			PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.139G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591666	0.86953	.	.	ENSG00000168297	ENST00000356151;ENST00000484288;ENST00000491164	T;T;T	0.38560	1.13;1.13;1.13	5.03	5.03	0.67393	Phox homologous domain (5);	0.141177	0.64402	D	0.000006	T	0.53174	0.1780	L	0.39085	1.19	0.80722	D	1	D;D	0.63880	0.993;0.992	D;P	0.65323	0.934;0.856	T	0.51973	-0.8637	10	0.48119	T	0.1	-11.0262	16.5163	0.84301	0.0:0.0:1.0:0.0	.	47;47	Q7Z7A4;Q7Z7A4-2	PXK_HUMAN;.	K	47;47;38	ENSP00000348472:E47K;ENSP00000417915:E47K;ENSP00000418831:E38K	ENSP00000348472:E47K	E	+	1	0	PXK	58326677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.687000	0.68219	2.490000	0.84030	0.650000	0.86243	GAA		0.353	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		18	27	0	0	0	1	0	18	27				
MTOR	2475	broad.mit.edu	37	1	11259693	11259693	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11259693T>G	ENST00000361445.4	-	27	4088	c.4012A>C	c.(4012-4014)Atc>Ctc	p.I1338L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1338					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATGCTTCTGATGAGCTCATCC	0.483																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4012-4014)Atc>Ctc		mechanistic target of rapamycin (serine/threonine kinase)							162.0	133.0	143.0					1																	11259693		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11259693T>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4012A>C	1.37:g.11259693T>G	ENSP00000354558:p.Ile1338Leu						p.I1338L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			27	4088	-			1338					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4012A>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713088	0.68730	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.63096	-0.02	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.47016	1.485	0.80722	D	1	P	0.35745	0.518	P	0.44647	0.456	T	0.68187	-0.5475	10	0.72032	D	0.01	-24.624	16.4473	0.83942	0.0:0.0:0.0:1.0	.	1338	P42345	MTOR_HUMAN	L	1338	ENSP00000354558:I1338L	ENSP00000354558:I1338L	I	-	1	0	MTOR	11182280	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.665000	0.83852	2.281000	0.76405	0.533000	0.62120	ATC		0.483	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		29	30	0	0	0	1	0	29	30				
TBCD	6904	broad.mit.edu	37	17	80895147	80895147	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80895147C>T	ENST00000355528.4	+	35	3322	c.3192C>T	c.(3190-3192)gaC>gaT	p.D1064D	TBCD_ENST00000539345.2_Splice_Site_p.D1064D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1064					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTTCTTCCAGCCACCCCTTTG	0.478																																						ENST00000355528.4																			0											c.e35-1		tubulin folding cofactor D							90.0	90.0	90.0					17																	80895147		1967	4146	6113	SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80895147C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3192-1C>T	17.37:g.80895147C>T						TBCD_ENST00000539345.2_Splice_Site_p.D1064_splice	p.D1064_splice	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		35	3322	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	1064					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	ENST00000355528.4	37	c.3191_splice	CCDS45818.1																																																																																				0.478	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Silent	13	23	0	0	0	1	0	13	23				
CADPS	8618	broad.mit.edu	37	3	62385158	62385158	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62385158C>T	ENST00000383710.4	-	30	4334	c.3985G>A	c.(3985-3987)Gca>Aca	p.A1329T	CADPS_ENST00000357948.3_Missense_Mutation_p.A1250T|CADPS_ENST00000283269.9_Missense_Mutation_p.A1290T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1329	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCACTGATGCTGTGGCTTCC	0.517																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3985-3987)Gca>Aca		Ca++-dependent secretion activator							201.0	175.0	184.0					3																	62385158		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385158C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3985G>A	3.37:g.62385158C>T	ENSP00000373215:p.Ala1329Thr					CADPS_ENST00000283269.9_Missense_Mutation_p.A1290T|CADPS_ENST00000357948.3_Missense_Mutation_p.A1250T	p.A1329T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4334	-		Lung SC(41;0.0452)	1329			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3985G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890659	0.91889	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.34072	1.38;1.38;1.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.63843	1.955	0.80722	D	1	P;D;D;P	0.71674	0.837;0.998;0.997;0.917	P;D;D;P	0.78314	0.562;0.991;0.989;0.713	T	0.59225	-0.7494	10	0.62326	D	0.03	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1250;1290;1329;1334	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	T	1335;1329;1250;1290	ENSP00000373215:A1329T;ENSP00000350632:A1250T;ENSP00000283269:A1290T	ENSP00000283269:A1290T	A	-	1	0	CADPS	62360198	1.000000	0.71417	0.218000	0.23776	0.989000	0.77384	7.487000	0.81328	2.776000	0.95493	0.655000	0.94253	GCA		0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		27	66	0	0	0	1	0	27	66				
NLRX1	79671	broad.mit.edu	37	11	119052898	119052898	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119052898C>T	ENST00000409109.1	+	9	3037	c.2450C>T	c.(2449-2451)aCg>aTg	p.T817M	NLRX1_ENST00000409991.1_Missense_Mutation_p.T817M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T817M|NLRX1_ENST00000409265.4_Missense_Mutation_p.T817M|NLRX1_ENST00000525863.1_Missense_Mutation_p.T817M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	817	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCTGCACACGGGCCTTGGG	0.647																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2449-2451)aCg>aTg		NLR family member X1							78.0	77.0	77.0					11																	119052898		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119052898C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2450C>T	11.37:g.119052898C>T	ENSP00000387334:p.Thr817Met					NLRX1_ENST00000525863.1_Missense_Mutation_p.T817M|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.T817M|NLRX1_ENST00000409265.4_Missense_Mutation_p.T817M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T817M	p.T817M			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	3037	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	817			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2450C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545158	0.86022	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.78	3.86	0.44501	.	0.213030	0.37136	N	0.002228	T	0.66655	0.2811	L	0.52126	1.63	0.47308	D	0.999388	D;D	0.89917	1.0;1.0	D;P	0.91635	0.999;0.804	T	0.69796	-0.5048	10	0.62326	D	0.03	.	15.0331	0.71723	0.0:0.857:0.143:0.0	.	817;817	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	817	ENSP00000386851:T817M;ENSP00000292199:T817M;ENSP00000386858:T817M;ENSP00000387334:T817M;ENSP00000433442:T817M	ENSP00000292199:T817M	T	+	2	0	NLRX1	118558108	1.000000	0.71417	0.856000	0.33681	0.974000	0.67602	7.191000	0.77763	1.222000	0.43521	0.609000	0.83330	ACG		0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		29	39	0	0	0	1	0	29	39				
MDN1	23195	broad.mit.edu	37	6	90422347	90422347	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90422347C>T	ENST00000369393.3	-	48	7492	c.7377G>A	c.(7375-7377)caG>caA	p.Q2459Q	MDN1_ENST00000428876.1_Silent_p.Q2459Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2459					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATACTAAGATCTGTCCATCTC	0.483																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7375-7377)caG>caA		MDN1, midasin homolog (yeast)							134.0	135.0	134.0					6																	90422347		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422347C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7377G>A	6.37:g.90422347C>T						MDN1_ENST00000428876.1_Silent_p.Q2459Q	p.Q2459Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7492	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2459					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7377G>A	CCDS5024.1																																																																																				0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			33	52	0	0	0	1	0	33	52				
ETV1	2115	broad.mit.edu	37	7	13949324	13949324	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:13949324G>T	ENST00000430479.1	-	11	1540	c.873C>A	c.(871-873)ggC>ggA	p.G291G	ETV1_ENST00000405218.2_Splice_Site_p.G291G|ETV1_ENST00000420159.2_Splice_Site_p.G233G|ETV1_ENST00000242066.5_Splice_Site_p.G273G|ETV1_ENST00000399357.3_Splice_Site_p.G188G|ETV1_ENST00000343495.5_Splice_Site_p.G273G|ETV1_ENST00000403527.1_Splice_Site_p.G251G|ETV1_ENST00000405192.2_Splice_Site_p.G268G|ETV1_ENST00000403685.1_Splice_Site_p.G273G|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405358.4_Splice_Site_p.G305G	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	291					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAACATACAGCCTGTGGATG	0.343			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e10-1		ets variant 1							94.0	92.0	93.0					7																	13949324		1808	4073	5881	SO:0001630	splice_region_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949324G>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.872-1C>A	7.37:g.13949324G>T						ETV1_ENST00000405358.4_Splice_Site_p.G305_splice|ETV1_ENST00000242066.5_Splice_Site_p.G273_splice|ETV1_ENST00000405192.2_Splice_Site_p.G268_splice|ETV1_ENST00000399357.3_Splice_Site_p.G188_splice|ETV1_ENST00000403685.1_Splice_Site_p.G273_splice|ETV1_ENST00000420159.2_Splice_Site_p.G233_splice|ETV1_ENST00000405218.2_Splice_Site_p.G291_splice|ETV1_ENST00000403527.1_Splice_Site_p.G251_splice|ETV1_ENST00000430479.1_Splice_Site_p.G291_splice	p.G273_splice			P50549	ETV1_HUMAN			10	1557	-			291	Missing (in Ref. 5; AAC62435).				A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Splice_Site	SNP	ENST00000430479.1	37	c.817_splice	CCDS55088.1																																																																																				0.343	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	Silent	12	42	1	0	6.40141e-05	1	6.5734e-05	12	42				
RASAL2	9462	broad.mit.edu	37	1	178420766	178420766	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:178420766G>A	ENST00000462775.1	+	8	1369	c.1244G>A	c.(1243-1245)tGt>tAt	p.C415Y	RASAL2_ENST00000367649.3_Missense_Mutation_p.C563Y|RASAL2_ENST00000448150.3_Missense_Mutation_p.C545Y	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	415	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCAGCAAATGTTCATCTAGT	0.408																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1633-1635)tGt>tAt		RAS protein activator like 2							185.0	175.0	178.0					1																	178420766		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178420766G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1244G>A	1.37:g.178420766G>A	ENSP00000420558:p.Cys415Tyr					RASAL2_ENST00000367649.3_Missense_Mutation_p.C563Y|RASAL2_ENST00000462775.1_Missense_Mutation_p.C415Y	p.C545Y	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			10	2452	+			415					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1634G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889075	0.91814	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.79141	-1.24;-1.24;-1.24	5.84	5.84	0.93424	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.822	D	0.89772	0.3955	10	0.87932	D	0	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	415;563	Q9UJF2;F8W755	NGAP_HUMAN;.	Y	545;563;415	ENSP00000407768:C545Y;ENSP00000356621:C563Y;ENSP00000420558:C415Y	ENSP00000356621:C563Y	C	+	2	0	RASAL2	176687389	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	9.731000	0.98807	2.760000	0.94817	0.655000	0.94253	TGT		0.408	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		54	55	0	0	0	1	0	54	55				
TTN	7273	broad.mit.edu	37	2	179598396	179598396	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179598396G>A	ENST00000591111.1	-	51	14993	c.14769C>T	c.(14767-14769)tgC>tgT	p.C4923C	TTN_ENST00000342992.6_Silent_p.C3996C|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.C5240C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12314	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCCAGGCACGTGTATT	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15718-15720)tgC>tgT		titin							131.0	126.0	127.0					2																	179598396		1863	4098	5961	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598396G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14769C>T	2.37:g.179598396G>A						TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.C4923C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.C3996C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.C5240C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15944	-			4923			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15720C>T																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	35	0	0	0	1	0	30	35				
PGM5	5239	broad.mit.edu	37	9	71144510	71144510	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71144510G>A	ENST00000396396.1	+	11	1871	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	548					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CATAGCCATCGCACTGAAAAT	0.483																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1642-1644)Gca>Aca		phosphoglucomutase 5							58.0	51.0	53.0					9																	71144510		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71144510G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1642G>A	9.37:g.71144510G>A	ENSP00000379678:p.Ala548Thr						p.A548T	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			11	1871	+			548					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1642G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	34	5.405531	0.96051	.	.	ENSG00000154330	ENST00000396396	T	0.50548	0.74	5.66	5.66	0.87406	.	0.219299	0.47093	D	0.000254	T	0.68668	0.3026	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	P	0.59643	0.861	T	0.72909	-0.4149	10	0.87932	D	0	.	18.5098	0.90911	0.0:0.0:1.0:0.0	.	548	Q15124	PGM5_HUMAN	T	548	ENSP00000379678:A548T	ENSP00000379678:A548T	A	+	1	0	PGM5	70334330	1.000000	0.71417	0.298000	0.25002	0.984000	0.73092	8.480000	0.90434	2.675000	0.91044	0.655000	0.94253	GCA		0.483	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		13	21	0	0	0	1	0	13	21				
SLC18A1	6570	broad.mit.edu	37	8	20036993	20036993	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:20036993G>A	ENST00000276373.5	-	3	393	c.127C>T	c.(127-129)Cca>Tca	p.P43S	SLC18A1_ENST00000437980.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P43S|SLC18A1_ENST00000440926.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P43S	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	43					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GGCACAATTGGCACTGAAAGT	0.507																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(127-129)Cca>Tca		solute carrier family 18 (vesicular monoamine transporter), member 1							81.0	78.0	79.0					8																	20036993		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20036993G>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.127C>T	8.37:g.20036993G>A	ENSP00000276373:p.Pro43Ser					SLC18A1_ENST00000519026.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000437980.1_Missense_Mutation_p.P43S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P43S|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P43S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P43S	p.P43S	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	4	597	-			43					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.127C>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635735	0.67130	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049611	0.85682	D	0.000000	D	0.93409	0.7898	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.964;1.0;0.999	D	0.94293	0.7530	10	0.87932	D	0	-22.6049	17.887	0.88858	0.0:0.0:1.0:0.0	.	43;43;43	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	S	43	ENSP00000265808:P43S;ENSP00000276373:P43S;ENSP00000387549:P43S;ENSP00000413361:P43S;ENSP00000429664:P43S;ENSP00000371021:P43S;ENSP00000428999:P43S	ENSP00000265808:P43S	P	-	1	0	SLC18A1	20081273	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	8.632000	0.90995	2.824000	0.97209	0.655000	0.94253	CCA		0.507	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			19	26	0	0	0	1	0	19	26				
FLT3	2322	broad.mit.edu	37	13	28601284	28601284	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:28601284C>T	ENST00000241453.7	-	17	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	FLT3_ENST00000537084.1_Silent_p.E716E|FLT3_ENST00000380982.4_Silent_p.E716E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGAAAATCTCTGTCCAAG	0.363			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2146-2148)gaG>gaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						168.0	172.0	170.0					13																	28601284		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601284C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2148G>A	13.37:g.28601284C>T						FLT3_ENST00000241453.7_Silent_p.E716E|FLT3_ENST00000537084.1_Silent_p.E716E	p.E716E			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2229	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	716			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2148G>A	CCDS31953.1																																																																																				0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			52	57	0	0	0	1	0	52	57				
SLC26A3	1811	broad.mit.edu	37	7	107423293	107423293	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107423293G>A	ENST00000340010.5	-	11	1444	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	SLC26A3_ENST00000422236.2_Silent_p.I385I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	420					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCAGCACGATGATGGCAC	0.418																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1258-1260)atC>atT		solute carrier family 26 (anion exchanger), member 3							84.0	81.0	82.0					7																	107423293		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423293G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1260C>T	7.37:g.107423293G>A						SLC26A3_ENST00000422236.2_Silent_p.I385I	p.I420I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			11	1444	-			420						Silent	SNP	ENST00000340010.5	37	c.1260C>T	CCDS5748.1																																																																																				0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		12	24	0	0	0	1	0	12	24				
DNMBP	23268	broad.mit.edu	37	10	101731785	101731785	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101731785C>T	ENST00000324109.4	-	2	188	c.97G>A	c.(97-99)Gca>Aca	p.A33T	DNMBP_ENST00000342239.3_Missense_Mutation_p.A33T	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	33	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCACCACTGCCAGCACCTCA	0.463																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(97-99)Gca>Aca		dynamin binding protein							174.0	184.0	180.0					10																	101731785		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101731785C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.97G>A	10.37:g.101731785C>T	ENSP00000315659:p.Ala33Thr					DNMBP_ENST00000324109.4_Missense_Mutation_p.A33T	p.A33T			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	2	188	-		Colorectal(252;0.234)	33			SH3 1.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.97G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486775	0.44249	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.49720	0.77;0.77	4.76	3.85	0.44370	Src homology-3 domain (4);	0.000000	0.47093	D	0.000249	T	0.26557	0.0649	N	0.05487	-0.04	0.80722	D	1	B	0.17465	0.022	B	0.17433	0.018	T	0.05582	-1.0876	10	0.39692	T	0.17	-15.2735	9.7592	0.40522	0.0:0.8408:0.0:0.1592	.	33	Q6XZF7	DNMBP_HUMAN	T	33	ENSP00000344914:A33T;ENSP00000315659:A33T	ENSP00000315659:A33T	A	-	1	0	DNMBP	101721775	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.852000	0.39348	1.203000	0.43233	0.555000	0.69702	GCA		0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		71	119	0	0	0	1	0	71	119				
FZD9	8326	broad.mit.edu	37	7	72849210	72849210	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72849210C>T	ENST00000344575.3	+	1	1102	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	291					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCGCAGAGCGTGGCCTGTG	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(871-873)agC>agT		frizzled family receptor 9							107.0	100.0	102.0					7																	72849210		2203	4300	6503	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849210C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.873C>T	7.37:g.72849210C>T							p.S291S	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1102	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	291						Silent	SNP	ENST00000344575.3	37	c.873C>T	CCDS5548.1																																																																																				0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			22	56	0	0	0	1	0	22	56				
TREML3P	340206	broad.mit.edu	37	6	41185472	41185472	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41185472C>T	ENST00000564680.1	-	0	213									triggering receptor expressed on myeloid cells-like 3, pseudogene																		CAGTAGGATCCCGAGTCCTCC	0.463																																						ENST00000564680.1																			0																																																			0							g.chr6:41185472C>T	AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41185472C>T														0	213	-									RNA	SNP	ENST00000564680.1	37																																																																																						0.463	TREML3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436224.1			4	4	0	0	0	1	0	4	4				
MTG1	92170	broad.mit.edu	37	10	135204901	135204901	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135204901C>T	ENST00000317502.6	+	0	0				PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000278060.5_Missense_Mutation_p.A493V|PAOX_ENST00000368539.4_3'UTR|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.G440G|RP11-108K14.8_ENST00000468317.2_Silent_p.G32G	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TGGAGGGAGGCCGACCGCCTC	0.662																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1477-1479)gCc>gTc		polyamine oxidase (exo-N4-amino)							55.0	59.0	58.0					10																	135204901		2203	4299	6502	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204901C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204901C>T	Exception_encountered					RP11-108K14.8_ENST00000468317.2_Silent_p.G32G|PAOX_ENST00000357296.3_Silent_p.G440G|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	p.A493V	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1561	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	631					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1478C>T	CCDS31320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.4|29.4	4.999987|4.999987	0.93227|0.93227	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060|ENST00000368544;ENST00000368534	D|.	0.98531|.	-4.98|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.047890|.	0.85682|.	D|.	0.000000|.	T|T	0.71350|0.71350	0.3329|0.3329	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.69465|0.69465	-0.5138|-0.5138	9|5	0.87932|0.37606	D|T	0|0.19	-14.3342|-14.3342	15.9313|15.9313	0.79663|0.79663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493|.	Q6QHF9-2|.	.|.	V|S	445;214;493|52;82	ENSP00000278060:A493V|.	ENSP00000278060:A493V|ENSP00000357522:P82S	A|P	+|+	2|1	0|0	PAOX|PAOX	135054891|135054891	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.691000|0.691000	0.40173|0.40173	6.949000|6.949000	0.75971|0.75971	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GCC|CCG		0.662	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		19	46	0	0	0	1	0	19	46				
NKPD1	284353	broad.mit.edu	37	19	45656163	45656163	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45656163G>A	ENST00000438936.2	-	3	1077	c.866C>T	c.(865-867)aCg>aTg	p.T289M	NKPD1_ENST00000429338.1_Missense_Mutation_p.T289M|NKPD1_ENST00000317951.4_Missense_Mutation_p.T511M|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.T289M			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	289	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTATCGGCCGTGCCCTTCAT	0.637																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1531-1533)aCg>aTg		NTPase, KAP family P-loop domain containing 1							11.0	13.0	13.0					19																	45656163		2081	4208	6289	SO:0001583	missense	284353							g.chr19:45656163G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.866C>T	19.37:g.45656163G>A	ENSP00000401739:p.Thr289Met					NKPD1_ENST00000429338.1_Missense_Mutation_p.T289M|NKPD1_ENST00000438936.2_Missense_Mutation_p.T289M|NKPD1_ENST00000589776.1_Missense_Mutation_p.T289M	p.T511M	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1531	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1532C>T		.	.	.	.	.	.	.	.	.	.	G	10.20	1.284666	0.23392	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.32515	1.45;1.45;1.45	5.3	4.05	0.47172	KAP P-loop (1);	0.299857	0.36374	N	0.002621	T	0.20251	0.0487	L	0.33485	1.01	0.30470	N	0.773396	P	0.50066	0.931	B	0.39706	0.307	T	0.12656	-1.0539	10	0.45353	T	0.12	-20.883	8.1352	0.31050	0.1917:0.0:0.8083:0.0	.	289	Q17RQ9	NKPD1_HUMAN	M	511;289;289	ENSP00000321976:T511M;ENSP00000401739:T289M;ENSP00000404706:T289M	ENSP00000321976:T511M	T	-	2	0	NKPD1	50348003	0.992000	0.36948	1.000000	0.80357	0.611000	0.37282	1.900000	0.39828	2.476000	0.83614	0.462000	0.41574	ACG		0.637	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		4	3	0	0	0	1	0	4	3				
FAM120B	84498	broad.mit.edu	37	6	170626692	170626692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170626692C>T	ENST00000476287.1	+	2	322	c.214C>T	c.(214-216)Cga>Tga	p.R72*	FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R95*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R84*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	72					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R72*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCTGCTTTGCGAGATTTTGT	0.443																																						ENST00000476287.1																			1	Substitution - Nonsense(1)	p.R72*(1)	large_intestine(1)	endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(214-216)Cga>Tga		family with sequence similarity 120B							133.0	129.0	131.0					6																	170626692		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626692C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.214C>T	6.37:g.170626692C>T	ENSP00000417970:p.Arg72*					FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R95*|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R84*|FAM120B_ENST00000252510.9_Intron	p.R72*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	322	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	72					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.214C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535989	0.96460	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	5.98	1.61	0.23674	.	0.123569	0.53938	D	0.000047	.	.	.	.	.	.	0.24531	N	0.994114	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-12.0974	10.0913	0.42449	0.2921:0.5216:0.1863:0.0	.	.	.	.	X	84;95;72	.	ENSP00000436640:R72X	R	+	1	2	FAM120B	170468617	0.979000	0.34478	0.687000	0.30102	0.866000	0.49608	0.165000	0.16564	0.795000	0.33922	0.655000	0.94253	CGA		0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		26	39	0	0	0	1	0	26	39				
PRKCE	5581	broad.mit.edu	37	2	46237637	46237637	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:46237637A>G	ENST00000306156.3	+	10	1745	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	PRKCE_ENST00000394874.1_Missense_Mutation_p.Y196C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ACCCAACTCTACTGCTGCTTC	0.478																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1417-1419)tAc>tGc		protein kinase C, epsilon							78.0	80.0	79.0					2																	46237637		1850	3793	5643	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46237637A>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1418A>G	2.37:g.46237637A>G	ENSP00000306124:p.Tyr473Cys					PRKCE_ENST00000394874.1_Missense_Mutation_p.Y196C	p.Y473C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		10	1745	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	473			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1418A>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509823	0.44660	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.27890	1.64;2.95	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.119051	0.64402	D	0.000017	T	0.34250	0.0891	L	0.50333	1.59	0.53688	D	0.999974	B	0.15719	0.014	B	0.27262	0.078	T	0.13176	-1.0519	10	0.72032	D	0.01	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	473	Q02156	KPCE_HUMAN	C	473;196	ENSP00000306124:Y473C;ENSP00000378341:Y196C	ENSP00000306124:Y473C	Y	+	2	0	PRKCE	46091141	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.183000	0.58317	2.324000	0.78689	0.533000	0.62120	TAC		0.478	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			23	21	0	0	0	1	0	23	21				
XAB2	56949	broad.mit.edu	37	19	7687308	7687308	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7687308C>T	ENST00000358368.4	-	12	1563	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	509					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTCCAGGATGCGGTCGTACAC	0.617								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1525-1527)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							183.0	151.0	162.0					19																	7687308		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687308C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1526G>A	19.37:g.7687308C>T	ENSP00000351137:p.Arg509His					XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	p.R509H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			12	1563	-			509					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1526G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402598	0.83230	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.47528	0.84;0.84	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.92738	3.34	0.80722	D	1	D	0.69078	0.997	P	0.57244	0.816	T	0.81385	-0.0957	10	0.87932	D	0	-16.3196	16.3303	0.83006	0.0:1.0:0.0:0.0	.	509	Q9HCS7	SYF1_HUMAN	H	509;506	ENSP00000351137:R509H;ENSP00000438225:R506H	ENSP00000351137:R509H	R	-	2	0	XAB2	7593308	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.519000	0.81809	2.144000	0.66660	0.462000	0.41574	CGC		0.617	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		48	72	0	0	0	1	0	48	72				
KIAA2026	158358	broad.mit.edu	37	9	5988467	5988467	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5988467A>G	ENST00000399933.3	-	2	671	c.672T>C	c.(670-672)tgT>tgC	p.C224C	KIAA2026_ENST00000381461.2_Silent_p.C224C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	224										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTTGAGGTACATGCAGTTC	0.433																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(670-672)tgT>tgC		KIAA2026							133.0	127.0	129.0					9																	5988467		1935	4131	6066	SO:0001819	synonymous_variant	158358							g.chr9:5988467A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.672T>C	9.37:g.5988467A>G						KIAA2026_ENST00000381461.2_Silent_p.C224C	p.C224C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	671	-		Acute lymphoblastic leukemia(23;0.158)	224					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.672T>C																																																																																					0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		6	58	0	0	0	1	0	6	58				
TPD52L3	89882	broad.mit.edu	37	9	6328941	6328941	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:6328941G>A	ENST00000344545.5	+	1	593	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	116										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAAGAAGTCGGCCACATTCAG	0.517																																						ENST00000344545.5																			0				large_intestine(1)|lung(9)|skin(1)	11						c.(346-348)Gcc>Acc		tumor protein D52-like 3							73.0	72.0	72.0					9																	6328941		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328941G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.346G>A	9.37:g.6328941G>A	ENSP00000341677:p.Ala116Thr					TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T	p.A116T	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	593	+		Acute lymphoblastic leukemia(23;0.158)	116					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.346G>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036487	0.35893	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.22539	1.95;1.95;1.95	4.41	1.35	0.21983	.	0.446395	0.23418	N	0.048397	T	0.22742	0.0549	L	0.60455	1.87	0.09310	N	1	P;P;B	0.40553	0.721;0.553;0.317	P;P;B	0.46629	0.476;0.522;0.267	T	0.12967	-1.0527	10	0.66056	D	0.02	-14.5477	2.6454	0.04983	0.1048:0.1772:0.5198:0.1981	.	116;116;116	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	T	116	ENSP00000341677:A116T;ENSP00000370836:A116T;ENSP00000318665:A116T	ENSP00000318665:A116T	A	+	1	0	TPD52L3	6318941	0.002000	0.14202	0.130000	0.21974	0.642000	0.38348	0.205000	0.17356	0.180000	0.19960	0.511000	0.50034	GCC		0.517	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		22	40	0	0	0	1	0	22	40				
DLG5	9231	broad.mit.edu	37	10	79581055	79581055	+	Missense_Mutation	SNP	C	C	T	rs368687321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79581055C>T	ENST00000372391.2	-	15	3192	c.3187G>A	c.(3187-3189)Gca>Aca	p.A1063T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1063	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGGGGTGATGCGTGCATGGGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15724	0.0		0.0	False		,,,				2504	0.0					ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3187-3189)Gca>Aca		discs, large homolog 5 (Drosophila)		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	33.0	34.0	34.0		3187	3.0	0.0	10		34	0,8600		0,0,4300	no	missense	DLG5	NM_004747.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1063/1920	79581055	2,13004	2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581055C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3187G>A	10.37:g.79581055C>T	ENSP00000361467:p.Ala1063Thr					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	p.A1063T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3192	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1063			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3187G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	2.217	-0.379288	0.05000	4.54E-4	0.0	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04275	3.66	5.87	3.0	0.34707	.	0.395857	0.18665	N	0.134615	T	0.03959	0.0111	L	0.36672	1.1	0.19575	N	0.999968	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44817	-0.9303	10	0.22109	T	0.4	.	5.8682	0.18789	0.1355:0.6589:0.0:0.2055	.	953;1063	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	T	1063;612	ENSP00000361467:A1063T	ENSP00000361467:A1063T	A	-	1	0	DLG5	79251061	0.028000	0.19301	0.034000	0.17996	0.946000	0.59487	1.743000	0.38258	0.381000	0.24851	0.655000	0.94253	GCA		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	16	0	0	0	1	0	10	16				
VCAM1	7412	broad.mit.edu	37	1	101203801	101203801	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101203801T>C	ENST00000294728.2	+	9	2283	c.2182T>C	c.(2182-2184)Tca>Cca	p.S728P	VCAM1_ENST00000347652.2_Missense_Mutation_p.S636P|VCAM1_ENST00000370119.4_Missense_Mutation_p.S666P|VCAM1_ENST00000370115.1_Missense_Mutation_p.S529P	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	728				S -> P (in Ref. 6; BAG59286). {ECO:0000305}.	acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATGAAGGGGTCATATAGTCT	0.378																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2182-2184)Tca>Cca		vascular cell adhesion molecule 1	Carvedilol(DB01136)						109.0	110.0	110.0					1																	101203801		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101203801T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2182T>C	1.37:g.101203801T>C	ENSP00000294728:p.Ser728Pro					VCAM1_ENST00000347652.2_Missense_Mutation_p.S636P|VCAM1_ENST00000370115.1_Missense_Mutation_p.S529P|VCAM1_ENST00000370119.4_Missense_Mutation_p.S666P	p.S728P	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	9	2283	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	728					A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.2182T>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143702	0.37825	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.62364	0.52;0.03;1.02;0.87	6.08	6.08	0.98989	.	0.058887	0.64402	D	0.000002	T	0.63212	0.2492	L	0.32530	0.975	0.35296	D	0.782628	D;B;D	0.89917	0.999;0.075;1.0	D;B;D	0.87578	0.988;0.056;0.998	T	0.65606	-0.6127	10	0.37606	T	0.19	-15.6273	16.6512	0.85203	0.0:0.0:0.0:1.0	.	666;636;728	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	P	666;636;728;529	ENSP00000359137:S666P;ENSP00000304611:S636P;ENSP00000294728:S728P;ENSP00000359133:S529P	ENSP00000294728:S728P	S	+	1	0	VCAM1	100976389	0.998000	0.40836	0.939000	0.37840	0.318000	0.28184	5.243000	0.65395	2.333000	0.79357	0.482000	0.46254	TCA		0.378	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		29	45	0	0	0	1	0	29	45				
DNM2	1785	broad.mit.edu	37	19	10916630	10916630	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10916630C>T	ENST00000355667.6	+	13	1612	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	DNM2_ENST00000389253.4_Missense_Mutation_p.A511V|DNM2_ENST00000314646.5_Missense_Mutation_p.A511V|DNM2_ENST00000408974.4_Missense_Mutation_p.A511V|DNM2_ENST00000359692.6_Missense_Mutation_p.A511V|DNM2_ENST00000585892.1_Missense_Mutation_p.A511V	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AAGAAGAGAGCCATCCCCAAT	0.607			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1531-1533)gCc>gTc		dynamin 2							190.0	148.0	162.0					19																	10916630		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10916630C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1532C>T	19.37:g.10916630C>T	ENSP00000347890:p.Ala511Val					DNM2_ENST00000359692.6_Missense_Mutation_p.A511V|DNM2_ENST00000355667.6_Missense_Mutation_p.A511V|DNM2_ENST00000585892.1_Missense_Mutation_p.A511V|DNM2_ENST00000408974.4_Missense_Mutation_p.A511V|DNM2_ENST00000389253.4_Missense_Mutation_p.A511V	p.A511V			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		13	1696	+			511					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1532C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579093	0.28180	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.93019	-3.11;-3.15;-3.11;-3.15;-3.14	5.64	5.64	0.86602	.	0.199533	0.42294	D	0.000736	D	0.87136	0.6102	N	0.12182	0.205	0.47862	D	0.999539	B;B;B;B;B;B	0.23316	0.083;0.009;0.001;0.0;0.001;0.002	B;B;B;B;B;B	0.18561	0.022;0.004;0.001;0.007;0.002;0.003	T	0.82380	-0.0486	10	0.30854	T	0.27	-18.3215	18.4689	0.90766	0.0:1.0:0.0:0.0	.	105;244;511;511;511;511	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	V	511	ENSP00000386192:A511V;ENSP00000347890:A511V;ENSP00000352721:A511V;ENSP00000373905:A511V;ENSP00000313164:A511V	ENSP00000313164:A511V	A	+	2	0	DNM2	10777630	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	4.231000	0.58639	2.657000	0.90304	0.650000	0.86243	GCC		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		13	15	0	0	0	1	0	13	15				
PCDHGB7	56099	broad.mit.edu	37	5	140799298	140799298	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140799298C>T	ENST00000398594.2	+	1	1872	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGAACAGGCGAGGTGCGCA	0.657																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1870-1872)ggC>ggT									50.0	56.0	54.0					5																	140799298		2187	4287	6474	SO:0001819	synonymous_variant	0							g.chr5:140799298C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1872C>T	5.37:g.140799298C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.G624G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1872	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.1872C>T	CCDS47293.1																																																																																				0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	72	0	0	0	1	0	4	72				
COMMD7	149951	broad.mit.edu	37	20	31294522	31294522	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31294522C>T	ENST00000278980.6	-	4	887	c.282G>A	c.(280-282)gcG>gcA	p.A94A	COMMD7_ENST00000446419.2_Silent_p.A93A	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	94					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)	p.A94A(1)		breast(1)|endometrium(1)|lung(3)	5						TTATGAAATCCGCCTGGACCT	0.473																																						ENST00000446419.1																			1	Substitution - coding silent(1)	p.A94A(1)	lung(1)	breast(1)|endometrium(1)|lung(3)	5						c.(277-279)gcG>gcA		COMM domain containing 7							77.0	74.0	75.0					20																	31294522		1925	4129	6054	SO:0001819	synonymous_variant	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31294522C>T	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.282G>A	20.37:g.31294522C>T						COMMD7_ENST00000278980.6_Silent_p.A94A	p.A93A	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN			4	895	-			94					A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Silent	SNP	ENST00000278980.6	37	c.279G>A	CCDS42864.1																																																																																				0.473	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		18	31	0	0	0	1	0	18	31				
ZNF655	79027	broad.mit.edu	37	7	99170592	99170592	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99170592C>A	ENST00000394163.2	+	3	1044	c.861C>A	c.(859-861)agC>agA	p.S287R	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.S287R|ZNF655_ENST00000424881.1_Missense_Mutation_p.S322R|ZNF655_ENST00000493277.1_Missense_Mutation_p.S322R|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	287					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GTAGTCCAAGCTCAGGCATAA	0.388																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(964-966)agC>agA		zinc finger protein 655							69.0	69.0	69.0					7																	99170592		2202	4298	6500	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170592C>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.861C>A	7.37:g.99170592C>A	ENSP00000377718:p.Ser287Arg					ZNF655_ENST00000394163.2_Missense_Mutation_p.S287R|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S322R|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S287R	p.S322R	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1186	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		287					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.966C>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336206	0.24253	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.06	2.1	0.27182	.	0.000000	0.52532	D	0.000064	T	0.08088	0.0202	N	0.17312	0.475	0.80722	D	1	B;B	0.29508	0.246;0.159	B;B	0.29663	0.105;0.049	T	0.32929	-0.9888	10	0.21540	T	0.41	-2.1574	4.5069	0.11893	0.1728:0.6252:0.0:0.202	.	322;287	Q8N720-3;Q8N720	.;ZN655_HUMAN	R	287;322;322;287	ENSP00000252713:S287R;ENSP00000419135:S322R;ENSP00000393876:S322R;ENSP00000377718:S287R	ENSP00000252713:S287R	S	+	3	2	ZNF655	99008528	0.000000	0.05858	1.000000	0.80357	0.931000	0.56810	-1.333000	0.02667	0.310000	0.22990	-0.355000	0.07637	AGC		0.388	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		24	41	1	0	4.47668e-21	1	4.96907e-21	24	41				
NPC1	4864	broad.mit.edu	37	18	21124372	21124372	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21124372A>G	ENST00000269228.5	-	13	2620	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	NPC1_ENST00000412552.2_Missense_Mutation_p.V371A|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	689	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAACGGGATGACTTCAATCAC	0.532																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2065-2067)gTc>gCc		Niemann-Pick disease, type C1							141.0	102.0	115.0					18																	21124372		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21124372A>G	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2066T>C	18.37:g.21124372A>G	ENSP00000269228:p.Val689Ala					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V371A	p.V689A	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			13	2620	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		689			SSD.		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2066T>C	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	A	31	5.098970	0.94197	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96745	-4.11;-4.11	5.85	5.85	0.93711	Sterol-sensing domain (1);	0.055638	0.64402	D	0.000001	D	0.98353	0.9453	M	0.88704	2.975	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99282	1.0896	10	0.66056	D	0.02	-42.5603	16.2355	0.82371	1.0:0.0:0.0:0.0	.	700;689	Q59GR1;O15118	.;NPC1_HUMAN	A	689;371;534	ENSP00000269228:V689A;ENSP00000408606:V371A	ENSP00000269228:V689A	V	-	2	0	NPC1	19378370	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.334000	0.96470	2.238000	0.73509	0.533000	0.62120	GTC		0.532	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		11	14	0	0	0	1	0	11	14				
ACTR6	64431	broad.mit.edu	37	12	100613796	100613796	+	Silent	SNP	G	G	A	rs140292829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100613796G>A	ENST00000188312.2	+	10	1698	c.933G>A	c.(931-933)ccG>ccA	p.P311P	ACTR6_ENST00000552376.1_Intron|ACTR6_ENST00000546902.1_Silent_p.P229P|ACTR6_ENST00000551617.1_Intron	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAATGCAGCCGCATTTTTTTA	0.373																																						ENST00000188312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(931-933)ccG>ccA		ARP6 actin-related protein 6 homolog (yeast)		G		0,4404		0,0,2202	65.0	66.0	65.0		933	-2.1	1.0	12	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTR6	NM_022496.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		311/397	100613796	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	64431					cytoplasm|cytoskeleton		g.chr12:100613796G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.933G>A	12.37:g.100613796G>A						ACTR6_ENST00000546902.1_Silent_p.P229P|ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000552376.1_Intron	p.P311P	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			10	1698	+			311					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	ENST00000188312.2	37	c.933G>A	CCDS9074.1																																																																																				0.373	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		6	46	0	0	0	1	0	6	46				
CNOT6L	246175	broad.mit.edu	37	4	78647372	78647372	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:78647372G>A	ENST00000504123.1	-	11	1534	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	CNOT6L_ENST00000264903.4_Silent_p.S468S			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	468	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTCATAGGCGCTCTTAAGTT	0.408																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1402-1404)agC>agT		CCR4-NOT transcription complex, subunit 6-like							220.0	204.0	209.0					4																	78647372		1843	4092	5935	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647372G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1404C>T	4.37:g.78647372G>A						CNOT6L_ENST00000264903.4_Silent_p.S468S	p.S468S			Q96LI5	CNO6L_HUMAN			11	1534	-			468					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.1404C>T																																																																																					0.408	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			22	118	0	0	0	1	0	22	118				
DDIT4	54541	broad.mit.edu	37	10	74034170	74034170	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74034170C>T	ENST00000307365.3	+	2	397	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	66					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGGCTTCGGGCCGGAGGAAGG	0.711																																						ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(196-198)Ccg>Tcg		DNA-damage-inducible transcript 4							15.0	17.0	16.0					10																	74034170		2202	4289	6491	SO:0001583	missense	54541				apoptosis			g.chr10:74034170C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.196C>T	10.37:g.74034170C>T	ENSP00000307305:p.Pro66Ser						p.P66S	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			2	397	+			66					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.196C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854516	0.17106	.	.	ENSG00000168209	ENST00000307365	T	0.39787	1.06	5.33	4.36	0.52297	.	0.440584	0.27270	N	0.020137	T	0.17959	0.0431	N	0.11560	0.145	0.29515	N	0.853934	B	0.02656	0.0	B	0.06405	0.002	T	0.21314	-1.0249	10	0.08179	T	0.78	-40.1919	5.6649	0.17690	0.0:0.6789:0.1935:0.1276	.	66	Q9NX09	DDIT4_HUMAN	S	66	ENSP00000307305:P66S	ENSP00000307305:P66S	P	+	1	0	DDIT4	73704176	0.491000	0.26019	1.000000	0.80357	0.992000	0.81027	0.820000	0.27323	2.652000	0.90054	0.655000	0.94253	CCG		0.711	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		7	12	0	0	0	1	0	7	12				
FADS2	9415	broad.mit.edu	37	11	61583828	61583828	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61583828C>A	ENST00000257261.6	+	1	101	c.71C>A	c.(70-72)aCt>aAt	p.T24N	FADS2_ENST00000522639.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS1_ENST00000542506.1_5'Flank|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000522056.1_5'Flank|FADS2_ENST00000517839.1_5'Flank	NM_001281501.1|NM_001281502.1	NP_001268430.1|NP_001268431.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	0	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACTCCCCAGACTCCACTTCTC	0.622																																						ENST00000257261.6																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(70-72)aCt>aAt		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						52.0	54.0	53.0					11																	61583828		875	1990	2865	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61583828C>A	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000257261.6:c.71C>A	11.37:g.61583828C>A	ENSP00000257261:p.Thr24Asn					FADS1_ENST00000350997.7_Intron|FADS1_ENST00000541683.1_Intron|FADS2_ENST00000574708.1_Intron	p.T24N			O95864	FADS2_HUMAN			1	101	+			0			Cytochrome b5 heme-binding.		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000257261.6	37	c.71C>A		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311557	0.40895	.	.	ENSG00000134824	ENST00000257261	T	0.23348	1.91	3.6	0.151	0.14888	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	0.999996	B	0.26195	0.144	B	0.23574	0.047	T	0.27331	-1.0077	8	0.59425	D	0.04	.	2.9081	0.05727	0.215:0.5324:0.0:0.2526	.	24	O95864-2	.	N	24	ENSP00000257261:T24N	ENSP00000257261:T24N	T	+	2	0	FADS2	61340404	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.032000	0.12266	0.256000	0.21614	0.561000	0.74099	ACT		0.622	FADS2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000375581.1	NM_004265		12	19	1	0	9.05144e-12	1	9.75833e-12	12	19				
CYS1	192668	broad.mit.edu	37	2	10199026	10199026	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10199026G>A	ENST00000381813.4	-	3	618	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	144						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CCCCTCTTCCGAGTGGTCGTA	0.672																																						ENST00000381813.4																			0				large_intestine(1)	1						c.(430-432)tCg>tTg		cystin 1							26.0	25.0	25.0					2																	10199026		2200	4299	6499	SO:0001583	missense	192668					cilium axoneme		g.chr2:10199026G>A	AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.431C>T	2.37:g.10199026G>A	ENSP00000371234:p.Ser144Leu					CYS1_ENST00000477304.1_5'UTR	p.S144L	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN		Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)	3	618	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		144						Missense_Mutation	SNP	ENST00000381813.4	37	c.431C>T	CCDS33145.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451301	0.63290	.	.	ENSG00000205795	ENST00000381813	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.25644	0.0624	N	0.14661	0.345	0.09310	N	1	P	0.43352	0.804	B	0.36766	0.232	T	0.23084	-1.0198	8	0.66056	D	0.02	.	17.3543	0.87331	0.0:0.0:1.0:0.0	.	144	Q717R9	CYS1_HUMAN	L	144	.	ENSP00000371234:S144L	S	-	2	0	CYS1	10116477	0.831000	0.29352	0.005000	0.12908	0.738000	0.42128	6.368000	0.73104	2.517000	0.84864	0.561000	0.74099	TCG		0.672	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323537.1			7	7	0	0	0	1	0	7	7				
SOS1	6654	broad.mit.edu	37	2	39250215	39250215	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39250215G>A	ENST00000426016.1	-	11	1440	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.R452C|SOS1_ENST00000402219.2_Missense_Mutation_p.R452C			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	452	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCTCCTACACGTGTAAGAGTT	0.388									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(1354-1356)Cgt>Tgt		son of sevenless homolog 1 (Drosophila)							120.0	112.0	115.0					2																	39250215		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250215G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1354C>T	2.37:g.39250215G>A	ENSP00000387784:p.Arg452Cys					SOS1_ENST00000395038.2_Missense_Mutation_p.R452C|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000402219.2_Missense_Mutation_p.R452C	p.R452C			Q07889	SOS1_HUMAN			11	1440	-		all_hematologic(82;0.21)	452			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1354C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762532	0.69763	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.76316	-1.01;-1.01;-1.01	5.52	4.65	0.58169	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050854	0.85682	N	0.000000	T	0.78792	0.4339	M	0.62723	1.935	0.80722	D	1	P;P	0.47253	0.745;0.892	B;P	0.45794	0.146;0.493	T	0.81812	-0.0761	10	0.87932	D	0	.	14.513	0.67800	0.0708:0.0:0.9292:0.0	.	184;452	F5GX06;Q07889	.;SOS1_HUMAN	C	452;452;184;452;452	ENSP00000387784:R452C;ENSP00000384675:R452C;ENSP00000378479:R452C	ENSP00000263879:R452C	R	-	1	0	SOS1	39103719	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.843000	0.86859	1.471000	0.48121	0.557000	0.71058	CGT		0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		37	47	0	0	0	1	0	37	47				
TDRKH	11022	broad.mit.edu	37	1	151752566	151752566	+	Silent	SNP	G	G	A	rs373154310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151752566G>A	ENST00000368822.1	-	4	915	c.282C>T	c.(280-282)ggC>ggT	p.G94G	TDRKH_ENST00000368824.3_Silent_p.G94G|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	94	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGCTCATCGCCTACATCCT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		19665	0.002		0.0	False		,,,				2504	0.0					ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(280-282)ggC>ggT		tudor and KH domain containing							173.0	174.0	174.0					1																	151752566		2084	4228	6312	SO:0001819	synonymous_variant	11022						RNA binding	g.chr1:151752566G>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.282C>T	1.37:g.151752566G>A						TDRKH_ENST00000368827.6_Silent_p.G94G|TDRKH_ENST00000458431.2_Silent_p.G94G|TDRKH_ENST00000368823.1_Silent_p.G90G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.G94G|TDRKH_ENST00000368824.3_Silent_p.G94G	p.G94G			Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	915	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		94			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	ENST00000368822.1	37	c.282C>T	CCDS41394.1																																																																																				0.502	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		24	59	0	0	0	1	0	24	59				
THRA	7067	broad.mit.edu	37	17	38241019	38241019	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38241019G>A	ENST00000264637.4	+	6	1107	c.527G>A	c.(526-528)cGc>cAc	p.R176H	THRA_ENST00000546243.1_Missense_Mutation_p.R176H|THRA_ENST00000584985.1_Missense_Mutation_p.R176H|THRA_ENST00000394121.4_Missense_Mutation_p.R176H|THRA_ENST00000450525.2_Missense_Mutation_p.R176H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	176					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAGGCCCATCGCAGCACCAAT	0.602																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(526-528)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						73.0	74.0	74.0					17																	38241019		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38241019G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.527G>A	17.37:g.38241019G>A	ENSP00000264637:p.Arg176His					THRA_ENST00000584985.1_Missense_Mutation_p.R176H|THRA_ENST00000546243.1_Missense_Mutation_p.R176H|THRA_ENST00000394121.4_Missense_Mutation_p.R176H|THRA_ENST00000264637.4_Missense_Mutation_p.R176H	p.R176H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			6	1018	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	176					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.527G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836029	0.50951	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.93604	-3.1;-3.1;-3.25;-3.25	4.39	4.39	0.52855	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	M	0.75447	2.3	0.45946	D	0.998774	B;P;P	0.48294	0.267;0.493;0.908	B;B;B	0.30495	0.031;0.024;0.116	D	0.92926	0.6359	10	0.72032	D	0.01	.	16.7502	0.85483	0.0:0.0:1.0:0.0	.	176;176;176	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	176	ENSP00000377679:R176H;ENSP00000264637:R176H;ENSP00000395641:R176H;ENSP00000443972:R176H	ENSP00000264637:R176H	R	+	2	0	THRA	35494545	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.976000	0.29462	2.262000	0.75019	0.436000	0.28706	CGC		0.602	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			19	41	0	0	0	1	0	19	41				
PILRA	29992	broad.mit.edu	37	7	99971947	99971947	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99971947G>A	ENST00000198536.2	+	2	557	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PILRA_ENST00000350573.2_Silent_p.L115L|PILRA_ENST00000453419.1_Silent_p.L115L|PILRA_ENST00000394000.2_Silent_p.L115L|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	115	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L115L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCAACCTGCAGAAGCAGG	0.557																																						ENST00000198536.2																			1	Substitution - coding silent(1)	p.L115L(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(343-345)ctG>ctA		paired immunoglobin-like type 2 receptor alpha							105.0	106.0	106.0					7																	99971947		2203	4300	6503	SO:0001819	synonymous_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971947G>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.345G>A	7.37:g.99971947G>A						PILRA_ENST00000394000.2_Silent_p.L115L|PILRA_ENST00000453419.1_Silent_p.L115L|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Silent_p.L115L	p.L115L	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			2	557	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		115			Ig-like V-type.		Q8NHI1	Silent	SNP	ENST00000198536.2	37	c.345G>A	CCDS5691.1																																																																																				0.557	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		53	58	0	0	0	1	0	53	58				
MYOF	26509	broad.mit.edu	37	10	95132766	95132766	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95132766G>A	ENST00000359263.4	-	24	2377	c.2378C>T	c.(2377-2379)gCa>gTa	p.A793V	MYOF_ENST00000371502.4_Missense_Mutation_p.A793V|MYOF_ENST00000371501.4_Missense_Mutation_p.A793V|MYOF_ENST00000358334.5_Missense_Mutation_p.A780V	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	793					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GACCTGATGTGCGGGAATTCG	0.483																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2377-2379)gCa>gTa		myoferlin							211.0	208.0	209.0					10																	95132766		2013	4183	6196	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95132766G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2378C>T	10.37:g.95132766G>A	ENSP00000352208:p.Ala793Val					MYOF_ENST00000358334.5_Missense_Mutation_p.A780V|MYOF_ENST00000359263.4_Missense_Mutation_p.A793V|MYOF_ENST00000371502.4_Missense_Mutation_p.A793V	p.A793V			Q9NZM1	MYOF_HUMAN			24	2500	-			793					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2378C>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962671	0.74016	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.65	5.65	0.86999	Ferlin B-domain (1);	0.000000	0.85682	D	0.000000	D	0.86543	0.5958	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.97110	0.919;1.0	D	0.84836	0.0805	10	0.44086	T	0.13	-20.6316	19.9142	0.97043	0.0:0.0:1.0:0.0	.	780;793	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	V	780;793;793;793	ENSP00000351094:A780V;ENSP00000352208:A793V;ENSP00000360556:A793V;ENSP00000360557:A793V	ENSP00000351094:A780V	A	-	2	0	MYOF	95122756	1.000000	0.71417	0.574000	0.28523	0.115000	0.19883	7.803000	0.85983	2.941000	0.99782	0.655000	0.94253	GCA		0.483	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		40	52	0	0	0	1	0	40	52				
SYT9	143425	broad.mit.edu	37	11	7334785	7334785	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7334785G>A	ENST00000318881.6	+	3	894	c.657G>A	c.(655-657)aaG>aaA	p.K219K	SYT9_ENST00000396716.2_Silent_p.K187K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	219					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTAACAGCAAGGCTTGTGGGA	0.398																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(655-657)aaG>aaA		synaptotagmin IX							139.0	141.0	140.0					11																	7334785		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334785G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.657G>A	11.37:g.7334785G>A						SYT9_ENST00000396716.2_Silent_p.K187K	p.K219K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	894	+			219						Silent	SNP	ENST00000318881.6	37	c.657G>A	CCDS7778.1																																																																																				0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		33	55	0	0	0	1	0	33	55				
NDUFA13	51079	broad.mit.edu	37	19	19625628	19625628	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19625628G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.Y203Y|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000585580.3_Silent_p.Y203Y|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TGACCATGACGTAGAGCACGA	0.662																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(607-609)taC>taT		testis-specific serine kinase 6							57.0	44.0	48.0					19																	19625628		2203	4299	6502	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625628G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625628G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.Y203Y	p.Y203Y			Q9BXA6	TSSK6_HUMAN			1	1210	-			203			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.609C>T	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		22	24	0	0	0	1	0	22	24				
SDK2	54549	broad.mit.edu	37	17	71394314	71394314	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71394314G>A	ENST00000392650.3	-	24	3214	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1072C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1072	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTCACCTGGCGCATGCGGAAG	0.622																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3214-3216)Cgc>Tgc		sidekick cell adhesion molecule 2							35.0	41.0	39.0					17																	71394314		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71394314G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3214C>T	17.37:g.71394314G>A	ENSP00000376421:p.Arg1072Cys					SDK2_ENST00000388726.3_Missense_Mutation_p.R1072C	p.R1072C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			24	3214	-			1072			Fibronectin type-III 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3214C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117052	0.77323	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.58940	0.3;0.3;0.3	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061993	0.64402	D	0.000005	T	0.76205	0.3955	M	0.81497	2.545	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70227	0.968;0.959;0.931	T	0.77278	-0.2647	10	0.38643	T	0.18	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	1072;1072;1072	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	696;1072;1072;248;1072	ENSP00000376421:R1072C;ENSP00000373378:R1072C;ENSP00000407098:R248C	ENSP00000324967:R1072C	R	-	1	0	SDK2	68905909	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.245000	0.58734	2.328000	0.79073	0.462000	0.41574	CGC		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	22	0	0	0	1	0	8	22				
SMC6	79677	broad.mit.edu	37	2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000402989.1_Missense_Mutation_p.R257C|SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(769-771)Cgt>Tgt		structural maintenance of chromosomes 6							123.0	119.0	121.0					2																	17902486		2202	4300	6502	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17902486G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.769C>T	2.37:g.17902486G>A	ENSP00000404092:p.Arg257Cys					SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C	p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			10	1038	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		257					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.769C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901567	0.52227	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.88	4.99	0.66335	RecF/RecN/SMC (1);	0.148257	0.64402	D	0.000012	T	0.06508	0.0167	L	0.39898	1.24	0.58432	D	0.999998	B;P;B	0.37500	0.424;0.597;0.29	B;B;B	0.34779	0.092;0.082;0.189	T	0.39035	-0.9633	10	0.38643	T	0.18	.	11.4338	0.50056	0.0:0.1365:0.7217:0.1418	.	283;283;257	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	C	257;257;283;257;283	ENSP00000404092:R257C;ENSP00000323439:R257C;ENSP00000370672:R283C;ENSP00000384539:R257C;ENSP00000408644:R283C	ENSP00000323439:R257C	R	-	1	0	SMC6	17765967	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.811000	0.62606	1.455000	0.47813	0.591000	0.81541	CGT		0.333	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		11	63	0	0	0	1	0	11	63				
EMC1	23065	broad.mit.edu	37	1	19568918	19568918	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19568918C>T	ENST00000477853.1	-	5	472	c.430G>A	c.(430-432)Gca>Aca	p.A144T	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.A122T|EMC1_ENST00000375199.3_Missense_Mutation_p.A144T	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	144						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TTCAGGACTGCGATGTACCTT	0.562																																						ENST00000477853.1																			0											c.(430-432)Gca>Aca		ER membrane protein complex subunit 1							156.0	132.0	140.0					1																	19568918		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19568918C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.430G>A	1.37:g.19568918C>T	ENSP00000420608:p.Ala144Thr					EMC1_ENST00000375199.3_Missense_Mutation_p.A144T|EMC1_ENST00000375208.3_Missense_Mutation_p.A122T	p.A144T	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					5	472	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.430G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031330	0.75504	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.55760	1.59;0.5;1.77	6.08	6.08	0.98989	Quinonprotein alcohol dehydrogenase-like (2);	0.044969	0.85682	D	0.000000	T	0.63943	0.2554	L	0.55103	1.725	0.80722	D	1	D;D;D;D	0.67145	0.975;0.975;0.995;0.996	P;P;P;P	0.57911	0.482;0.482;0.738;0.829	T	0.53927	-0.8369	10	0.18710	T	0.47	-21.4919	19.2273	0.93822	0.0:1.0:0.0:0.0	.	122;144;144;144	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	T	144;144;122	ENSP00000420608:A144T;ENSP00000364345:A144T;ENSP00000364354:A122T	ENSP00000364345:A144T	A	-	1	0	KIAA0090	19441505	1.000000	0.71417	0.268000	0.24571	0.293000	0.27360	7.409000	0.80053	2.894000	0.99253	0.655000	0.94253	GCA		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		4	48	0	0	0	1	0	4	48				
RELN	5649	broad.mit.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	rs374232523		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000424685.2_Missense_Mutation_p.A2049V|RELN_ENST00000343529.5_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15683	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			1	Substitution - Missense(1)	p.A2049V(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6145-6147)gCg>gTg		reelin		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	56.0	61.0		6146,6146	5.7	1.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191670G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val					RELN_ENST00000343529.5_Missense_Mutation_p.A2049V|RELN_ENST00000428762.1_Missense_Mutation_p.A2049V	p.A2049V			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6305	-			2049					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6146C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	15	0	0	0	1	0	9	15				
SLC51A	200931	broad.mit.edu	37	3	195955719	195955719	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195955719C>T	ENST00000296327.5	+	6	770	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	187					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CTTTCCAATACGCCTTCTTGA	0.582																																						ENST00000296327.5																			0											c.(559-561)taC>taT		solute carrier family 51, alpha subunit							153.0	138.0	143.0					3																	195955719		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195955719C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.561C>T	3.37:g.195955719C>T							p.Y187Y	NM_152672.5	NP_689885.4					6	770	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.561C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.561187	0.03939	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.97	-0.864	0.10666	.	.	.	.	.	T	0.53610	0.1807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46359	-0.9197	4	.	.	.	-18.9858	7.6986	0.28608	0.0:0.4081:0.1211:0.4708	.	.	.	.	M	200	.	.	T	+	2	0	AC069257.9	197440116	0.057000	0.20700	0.995000	0.50966	0.208000	0.24298	-1.286000	0.02788	-0.084000	0.12595	-0.290000	0.09829	ACG		0.582	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		4	111	0	0	0	1	0	4	111				
KLHL10	317719	broad.mit.edu	37	17	40001400	40001400	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40001400C>T	ENST00000293303.4	+	3	860	c.707C>T	c.(706-708)gCt>gTt	p.A236V		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	236					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CTAATGCATGCTGAGTACTTC	0.443																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(706-708)gCt>gTt		kelch-like family member 10							87.0	80.0	82.0					17																	40001400		2043	4195	6238	SO:0001583	missense	317719					cytoplasm		g.chr17:40001400C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.707C>T	17.37:g.40001400C>T	ENSP00000293303:p.Ala236Val						p.A236V	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	860	+		Breast(137;0.000162)	236					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.707C>T	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745733	0.15710	.	.	ENSG00000161594	ENST00000293303	T	0.69040	-0.37	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.295295	0.38663	N	0.001608	T	0.54870	0.1885	N	0.16368	0.405	0.42318	D	0.992248	P;P	0.34462	0.454;0.454	B;B	0.37780	0.258;0.258	T	0.51553	-0.8691	9	.	.	.	.	18.1556	0.89689	0.0:1.0:0.0:0.0	.	230;236	B4DXV2;Q6JEL2	.;KLH10_HUMAN	V	236	ENSP00000293303:A236V	.	A	+	2	0	KLHL10	37254926	0.012000	0.17670	1.000000	0.80357	0.998000	0.95712	1.596000	0.36718	2.873000	0.98535	0.561000	0.74099	GCT		0.443	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		17	21	0	0	0	1	0	17	21				
PRUNE2	158471	broad.mit.edu	37	9	79461527	79461527	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79461527C>T	ENST00000376718.3	-	4	535	c.412G>A	c.(412-414)Gtt>Att	p.V138I	PRUNE2_ENST00000376713.3_Missense_Mutation_p.V138I|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	138					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGAACTCAACGTTGGCATCG	0.488																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(412-414)Gtt>Att		prune homolog 2 (Drosophila)							116.0	113.0	114.0					9																	79461527		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79461527C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.412G>A	9.37:g.79461527C>T	ENSP00000365908:p.Val138Ile					PRUNE2_ENST00000376713.3_Missense_Mutation_p.V138I|PRUNE2_ENST00000428286.1_5'UTR	p.V138I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			4	535	-			138					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.412G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	5.676	0.309363	0.10733	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.13901	2.55;2.55	5.81	-9.2	0.00682	.	0.568820	0.17182	N	0.183838	T	0.03348	0.0097	N	0.08118	0	0.09310	N	0.999999	B;B	0.13594	0.001;0.008	B;B	0.06405	0.0;0.002	T	0.29971	-0.9994	10	0.02654	T	1	.	7.5231	0.27639	0.1263:0.3077:0.4849:0.0812	.	138;138	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	I	138;137;138	ENSP00000365908:V138I;ENSP00000365903:V138I	ENSP00000365903:V138I	V	-	1	0	PRUNE2	78651347	0.001000	0.12720	0.000000	0.03702	0.381000	0.30169	-0.093000	0.11111	-2.125000	0.00821	-1.268000	0.01426	GTT		0.488	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		20	25	0	0	0	1	0	20	25				
BAI2	576	broad.mit.edu	37	1	32221864	32221864	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32221864T>C	ENST00000373658.3	-	4	915	c.574A>G	c.(574-576)Aac>Gac	p.N192D	BAI2_ENST00000398542.1_Missense_Mutation_p.N180D|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.N180D|BAI2_ENST00000257070.4_Missense_Mutation_p.N192D|BAI2_ENST00000398538.1_Missense_Mutation_p.N180D|BAI2_ENST00000398556.3_Missense_Mutation_p.N195D|BAI2_ENST00000527361.1_Missense_Mutation_p.N192D|BAI2_ENST00000373655.2_Missense_Mutation_p.N192D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	192	Poly-Asn.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGCTAGAGTTGTTGTTGTTG	0.662																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(574-576)Aac>Gac		brain-specific angiogenesis inhibitor 2							32.0	39.0	37.0					1																	32221864		2203	4299	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221864T>C	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.574A>G	1.37:g.32221864T>C	ENSP00000362762:p.Asn192Asp					BAI2_ENST00000398538.1_Missense_Mutation_p.N180D|BAI2_ENST00000527361.1_Missense_Mutation_p.N192D|BAI2_ENST00000373655.2_Missense_Mutation_p.N192D|BAI2_ENST00000398542.1_Missense_Mutation_p.N180D|BAI2_ENST00000398556.3_Missense_Mutation_p.N195D|BAI2_ENST00000398547.1_Missense_Mutation_p.N180D|BAI2_ENST00000257070.4_Missense_Mutation_p.N192D	p.N192D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	915	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	192			Poly-Asn.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.574A>G	CCDS346.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314985	0.81358	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.56941	1.05;1.27;0.47;0.47;1.45;0.43;0.43;0.53;1.05;0.99	5.08	5.08	0.68730	.	0.000000	0.44902	D	0.000420	T	0.61324	0.2338	L	0.52573	1.65	0.80722	D	1	P;D;D;P;D;D	0.62365	0.817;0.991;0.983;0.716;0.983;0.972	B;P;P;B;P;P	0.56434	0.217;0.798;0.721;0.219;0.798;0.53	T	0.64672	-0.6352	10	0.62326	D	0.03	.	14.1251	0.65215	0.0:0.0:0.0:1.0	.	180;192;180;180;192;192	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	D	195;180;192;192;180;192;192;180;185;226	ENSP00000381564:N195D;ENSP00000381555:N180D;ENSP00000362762:N192D;ENSP00000362759:N192D;ENSP00000381550:N180D;ENSP00000257070:N192D;ENSP00000435397:N192D;ENSP00000381548:N180D;ENSP00000410921:N185D;ENSP00000437219:N226D	ENSP00000257070:N192D	N	-	1	0	BAI2	31994451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.424000	0.80242	2.050000	0.60909	0.379000	0.24179	AAC		0.662	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		17	33	0	0	0	1	0	17	33				
C16orf72	29035	broad.mit.edu	37	16	9210616	9210616	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9210616G>A	ENST00000327827.7	+	4	1072	c.675G>A	c.(673-675)agG>agA	p.R225R		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	225										endometrium(4)|large_intestine(2)|lung(2)	8						CTAGTCGAAGGAGAAATGGAC	0.473																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(673-675)agG>agA		chromosome 16 open reading frame 72							182.0	161.0	168.0					16																	9210616		2197	4300	6497	SO:0001819	synonymous_variant	29035							g.chr16:9210616G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.675G>A	16.37:g.9210616G>A							p.R225R	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			4	1072	+			225						Silent	SNP	ENST00000327827.7	37	c.675G>A	CCDS10538.1																																																																																				0.473	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		35	61	0	0	0	1	0	35	61				
PYGL	5836	broad.mit.edu	37	14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51372228G>A	ENST00000216392.7	-	20	2758	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_ENST00000532462.1_Intron|PYGL_ENST00000544180.2_Missense_Mutation_p.S775L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	809					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GAATTTCCCCGAGGCAGCTAT	0.423																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2425-2427)tCg>tTg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						157.0	149.0	152.0					14																	51372228		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51372228G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2426C>T	14.37:g.51372228G>A	ENSP00000216392:p.Ser809Leu					PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	p.S809L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			20	2758	-	all_epithelial(31;0.00825)|Breast(41;0.148)		809					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2426C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118057	0.77323	.	.	ENSG00000100504	ENST00000544180;ENST00000216392	D;D	0.93133	-3.17;-3.17	6.07	5.17	0.71159	.	0.291575	0.38897	N	0.001522	D	0.95629	0.8579	M	0.80028	2.48	0.48087	D	0.999586	B;B;D	0.55385	0.086;0.378;0.971	B;B;P	0.55713	0.057;0.362;0.782	D	0.95440	0.8524	10	0.51188	T	0.08	-2.3533	15.277	0.73750	0.0:0.0:0.8586:0.1414	.	775;775;809	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	L	775;809	ENSP00000443787:S775L;ENSP00000216392:S809L	ENSP00000216392:S809L	S	-	2	0	PYGL	50441978	1.000000	0.71417	0.867000	0.34043	0.572000	0.35998	9.869000	0.99810	1.534000	0.49203	0.655000	0.94253	TCG		0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		51	80	0	0	0	1	0	51	80				
SCAP	22937	broad.mit.edu	37	3	47455371	47455371	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47455371C>T	ENST00000265565.5	-	23	4225	c.3813G>A	c.(3811-3813)gtG>gtA	p.V1271V	SCAP_ENST00000441517.2_Silent_p.V1015V|SCAP_ENST00000545718.1_Silent_p.V878V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1271	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCACAGAGGGCACATACACCA	0.627																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3811-3813)gtG>gtA		SREBF chaperone							137.0	141.0	140.0					3																	47455371		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455371C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3813G>A	3.37:g.47455371C>T						SCAP_ENST00000441517.2_Silent_p.V1015V|SCAP_ENST00000545718.1_Silent_p.V878V	p.V1271V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4225	-			1271			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3813G>A	CCDS2755.2																																																																																				0.627	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		54	82	0	0	0	1	0	54	82				
WIPF3	644150	broad.mit.edu	37	7	29927787	29927787	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:29927787G>A	ENST00000409290.1	+	5	1203	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	WIPF3_ENST00000242140.5_Silent_p.T401T|WIPF3_ENST00000409123.1_Silent_p.T401T	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	401					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGACCCCGACGCAGCAGCCTG	0.587																																						ENST00000409290.1																			0				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(1201-1203)acG>acA		WAS/WASL interacting protein family, member 3							30.0	34.0	32.0					7																	29927787		2005	4189	6194	SO:0001819	synonymous_variant	644150							g.chr7:29927787G>A	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1203G>A	7.37:g.29927787G>A						WIPF3_ENST00000409123.1_Silent_p.T401T|WIPF3_ENST00000242140.5_Silent_p.T401T	p.T401T	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			5	1203	+			401					B8ZZV2	Silent	SNP	ENST00000409290.1	37	c.1203G>A	CCDS56472.1																																																																																				0.587	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			6	1	0	0	0	1	0	6	1				
CLPTM1	1209	broad.mit.edu	37	19	45490618	45490618	+	Silent	SNP	G	G	A	rs573473703		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45490618G>A	ENST00000337392.5	+	8	1125	c.975G>A	c.(973-975)tcG>tcA	p.S325S	CLPTM1_ENST00000541297.2_Silent_p.S311S|CLPTM1_ENST00000546079.1_Silent_p.S223S|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	325					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCAAGTCGCCCTGGAACT	0.642																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(931-933)tcG>tcA		cleft lip and palate associated transmembrane protein 1							71.0	68.0	69.0					19																	45490618		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490618G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.975G>A	19.37:g.45490618G>A						CLPTM1_ENST00000546079.1_Silent_p.S223S|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Silent_p.S325S	p.S311S			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1398	+		all_neural(266;0.224)|Ovarian(192;0.231)	325					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.933G>A	CCDS12651.1																																																																																				0.642	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		24	17	0	0	0	1	0	24	17				
SIX2	10736	broad.mit.edu	37	2	45235795	45235795	+	Missense_Mutation	SNP	C	C	T	rs369994485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:45235795C>T	ENST00000303077.6	-	1	774	c.455G>A	c.(454-456)cGc>cAc	p.R152H		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGCTTCTCGCGGGGTGAAGG	0.667																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(454-456)cGc>cAc		SIX homeobox 2		C	HIS/ARG	0,4406		0,0,2203	56.0	61.0	59.0		455	5.2	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIX2	NM_016932.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	152/292	45235795	1,13005	2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235795C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.455G>A	2.37:g.45235795C>T	ENSP00000304502:p.Arg152His						p.R152H	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	774	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	152					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.455G>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783756	0.90282	0.0	1.16E-4	ENSG00000170577	ENST00000303077	D	0.96168	-3.93	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	N	0.20986	0.625	0.80722	D	1	P;P	0.45957	0.869;0.624	P;B	0.45406	0.479;0.258	D	0.93267	0.6648	10	0.46703	T	0.11	-29.1065	18.3301	0.90265	0.0:1.0:0.0:0.0	.	152;152	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	H	152	ENSP00000304502:R152H	ENSP00000304502:R152H	R	-	2	0	SIX2	45089299	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	6.034000	0.70933	2.413000	0.81919	0.462000	0.41574	CGC		0.667	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			12	52	0	0	0	1	0	12	52				
MCF2L2	23101	broad.mit.edu	37	3	183056679	183056679	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183056679A>G	ENST00000328913.3	-	5	692	c.395T>C	c.(394-396)aTa>aCa	p.I132T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.I132T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.I132T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.I132T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	132	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGGATGAATATGAGCTGTAA	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(394-396)aTa>aCa		MCF.2 cell line derived transforming sequence-like 2							114.0	107.0	110.0					3																	183056679		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183056679A>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.395T>C	3.37:g.183056679A>G	ENSP00000328118:p.Ile132Thr					MCF2L2_ENST00000447025.2_Missense_Mutation_p.I132T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.I132T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.I132T	p.I132T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		5	692	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		132			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.395T>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544291	0.45280	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.131114	0.49916	D	0.000129	T	0.70133	0.3189	L	0.31065	0.9	0.23700	N	0.997072	P;P;P	0.42078	0.564;0.549;0.77	B;P;B	0.57009	0.391;0.811;0.422	T	0.65664	-0.6113	10	0.87932	D	0	.	14.0518	0.64742	1.0:0.0:0.0:0.0	.	132;132;132	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	T	132;132;132;132;104	ENSP00000328118:I132T;ENSP00000420070:I132T;ENSP00000388190:I132T;ENSP00000414131:I132T;ENSP00000417345:I104T	ENSP00000328118:I132T	I	-	2	0	MCF2L2	184539373	0.994000	0.37717	0.740000	0.30986	0.609000	0.37215	6.992000	0.76238	1.814000	0.52955	0.533000	0.62120	ATA		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		16	20	0	0	0	1	0	16	20				
ZNF106	64397	broad.mit.edu	37	15	42740533	42740533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42740533G>A	ENST00000263805.4	-	3	3129	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	ZNF106_ENST00000565380.1_Nonsense_Mutation_p.R163*|ZNF106_ENST00000565611.1_Nonsense_Mutation_p.R120*	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	935					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCACTATGTCGCCTTTGGGTA	0.478																																						ENST00000263805.4																			0											c.(2803-2805)Cga>Tga		zinc finger protein 106							200.0	200.0	200.0					15																	42740533		2203	4299	6502	SO:0001587	stop_gained	64397							g.chr15:42740533G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2803C>T	15.37:g.42740533G>A	ENSP00000263805:p.Arg935*					ZNF106_ENST00000565611.1_Nonsense_Mutation_p.R120*|ZNF106_ENST00000565380.1_Nonsense_Mutation_p.R163*	p.R935*	NM_022473.1	NP_071918.1					3	3129	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	c.2803C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	43	10.059086	0.99327	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	5.04	3.06	0.35304	.	0.319446	0.26769	N	0.022599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.299	10.9548	0.47351	0.0:0.1142:0.6469:0.2389	.	.	.	.	X	935;163	.	ENSP00000263805:R935X	R	-	1	2	ZFP106	40527825	0.998000	0.40836	0.978000	0.43139	0.849000	0.48306	1.447000	0.35101	1.335000	0.45486	-0.150000	0.13652	CGA		0.478	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		73	82	0	0	0	1	0	73	82				
MIR7-2	407044	broad.mit.edu	37	15	89155150	89155150	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89155150G>A	ENST00000384970.1	+	0	95					NR_029606.1|NR_039867.1				microRNA 7-2																		TCTACCTAATGGTGCCAGCCA	0.502																																						ENST00000384970.1																			0																				29.0	32.0	31.0					15																	89155150		1565	3581	5146			0							g.chr15:89155150G>A			15q26.1	2011-09-12		2008-12-18	ENSG00000207703	ENSG00000207703		"""ncRNAs / Micro RNAs"""	31639	non-coding RNA	RNA, micro				MIRN7-2			Standard	NR_029606		Approved	hsa-mir-7-2	uc010upm.2				15.37:g.89155150G>A								NR_029606.1|NR_039867.1						0	95	+									RNA	SNP	ENST00000384970.1	37																																																																																						0.502	MIR7-2-201	KNOWN	basic	miRNA	miRNA		NR_029606		7	14	0	0	0	1	0	7	14				
SLC12A8	84561	broad.mit.edu	37	3	124906083	124906083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124906083G>A	ENST00000393469.4	-	3	437	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000423114.2_Nonsense_Mutation_p.Q159*	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	130					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGCCTCACCTGTCCAAACACA	0.637																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(475-477)Cag>Tag		solute carrier family 12, member 8							40.0	54.0	50.0					3																	124906083		2104	4213	6317	SO:0001587	stop_gained	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124906083G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.388C>T	3.37:g.124906083G>A	ENSP00000377112:p.Gln130*					SLC12A8_ENST00000469902.1_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000393469.4_Nonsense_Mutation_p.Q130*|SLC12A8_ENST00000314584.7_5'UTR	p.Q159*			A0AV02	S12A8_HUMAN			4	474	-			130					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Nonsense_Mutation	SNP	ENST00000393469.4	37	c.475C>T	CCDS43143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.764576|4.764576	0.89932|0.89932	.|.	.|.	ENSG00000221955|ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437|ENST00000479826	.|T	.|0.76060	.|-0.99	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82962	.|0.5151	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81658	.|-0.0833	.|5	0.62326|.	D|.	0.03|.	.|.	18.8905|18.8905	0.92399|0.92399	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	130;159;130;98|89	.|ENSP00000420197:T89I	ENSP00000377112:Q130X|.	Q|T	-|-	1|2	0|0	SLC12A8|SLC12A8	126388773|126388773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	9.182000|9.182000	0.94881|0.94881	2.708000|2.708000	0.92522|0.92522	0.643000|0.643000	0.83706|0.83706	CAG|ACA		0.637	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		14	15	0	0	0	1	0	14	15				
SLC22A7	10864	broad.mit.edu	37	6	43270090	43270090	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43270090C>T	ENST00000372585.5	+	8	1309	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	SLC22A7_ENST00000372574.3_Missense_Mutation_p.T403M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T403M	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	405					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CGCCGCCTCACGCAAGCTGGG	0.637																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1213-1215)aCg>aTg		solute carrier family 22 (organic anion transporter), member 7							57.0	47.0	50.0					6																	43270090		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270090C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1214C>T	6.37:g.43270090C>T	ENSP00000361666:p.Thr405Met					SLC22A7_ENST00000372574.3_Missense_Mutation_p.T403M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T403M	p.T405M	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1309	+			405					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1214C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018747	0.54576	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.73897	0.42;0.42;0.42;-0.79	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.230793	0.43260	D	0.000586	T	0.79953	0.4535	M	0.89214	3.015	0.21740	N	0.999568	D;D;D	0.71674	0.998;0.998;0.998	D;P;P	0.65773	0.938;0.897;0.851	T	0.74346	-0.3695	10	0.66056	D	0.02	.	7.7104	0.28673	0.0:0.7478:0.1638:0.0884	.	405;403;403	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	M	403;405;403;98	ENSP00000361670:T403M;ENSP00000361666:T405M;ENSP00000361655:T403M;ENSP00000393836:T98M	ENSP00000361655:T403M	T	+	2	0	SLC22A7	43378068	0.001000	0.12720	0.748000	0.31131	0.781000	0.44180	1.025000	0.30090	1.224000	0.43551	0.462000	0.41574	ACG		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			7	7	0	0	0	1	0	7	7				
GLYATL2	219970	broad.mit.edu	37	11	58602079	58602079	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:58602079G>A	ENST00000287275.1	-	6	1098	c.708C>T	c.(706-708)ggC>ggT	p.G236G	GLYATL2_ENST00000533636.1_5'Flank|GLYATL2_ENST00000532258.1_Silent_p.G236G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	236						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACATGTTGCCTTGGTGTC	0.423																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(706-708)ggC>ggT		glycine-N-acyltransferase-like 2	Glycine(DB00145)						105.0	105.0	105.0					11																	58602079		2043	4193	6236	SO:0001819	synonymous_variant	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602079G>A	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.708C>T	11.37:g.58602079G>A						GLYATL2_ENST00000532258.1_Silent_p.G236G	p.G236G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	1098	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	236					A5LGC7|Q86WC3|Q96AT2	Silent	SNP	ENST00000287275.1	37	c.708C>T	CCDS41649.1																																																																																				0.423	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		11	36	0	0	0	1	0	11	36				
ZC2HC1C	79696	broad.mit.edu	37	14	75538516	75538516	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75538516C>T	ENST00000524913.1	+	2	1729	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	414							metal ion binding (GO:0046872)										CAGCAGGATGCGGGGTTCCAA	0.577																																						ENST00000524913.1																			0											c.(1240-1242)Cgg>Tgg		zinc finger, C2HC-type containing 1C							38.0	41.0	40.0					14																	75538516		1954	4149	6103	SO:0001583	missense	79696							g.chr14:75538516C>T	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.1240C>T	14.37:g.75538516C>T	ENSP00000435550:p.Arg414Trp					ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Intron	p.R414W	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN			2	1729	+			0					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.1240C>T	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624869	0.28889	.	.	ENSG00000119703	ENST00000524913	T	0.45668	0.89	5.42	3.59	0.41128	.	0.165679	0.40222	N	0.001145	T	0.21227	0.0511	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.05386	-1.0888	9	.	.	.	-3.9884	11.6235	0.51132	0.0:0.8557:0.0:0.1443	.	414	E9PJQ0	.	W	414	ENSP00000435550:R414W	.	R	+	1	2	FAM164C	74608269	0.925000	0.31364	0.993000	0.49108	0.021000	0.10359	3.375000	0.52410	1.424000	0.47217	-0.136000	0.14681	CGG		0.577	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		11	18	0	0	0	1	0	11	18				
PCDHAC1	56135	broad.mit.edu	37	5	140307447	140307447	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140307447G>A	ENST00000253807.2	+	1	970	c.970G>A	c.(970-972)Gct>Act	p.A324T	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A324T|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCACCGCTAAACTGCT	0.567																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(970-972)Gct>Act									181.0	163.0	169.0					5																	140307447		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307447G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.970G>A	5.37:g.140307447G>A	ENSP00000253807:p.Ala324Thr					PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A324T|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A324T	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	970	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.970G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.646883	0.29246	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50548	0.74;0.74	5.53	2.74	0.32292	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.27944	0.81	0.09310	N	1	B;B	0.21309	0.04;0.054	B;B	0.20184	0.028;0.026	T	0.27640	-1.0068	9	0.52906	T	0.07	.	9.879	0.41222	0.2239:0.0:0.7761:0.0	.	324;324	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	324	ENSP00000386356:A324T;ENSP00000253807:A324T	ENSP00000253807:A324T	A	+	1	0	PCDHAC1	140287631	0.000000	0.05858	0.015000	0.15790	0.766000	0.43426	-0.160000	0.10041	0.676000	0.31285	0.462000	0.41574	GCT		0.567	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		47	66	0	0	0	1	0	47	66				
IPPK	64768	broad.mit.edu	37	9	95400457	95400457	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95400457C>T	ENST00000287996.3	-	9	1018	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	248					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCCCACTGGCCAGGCCGTTG	0.637																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(742-744)Gcc>Acc		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							57.0	56.0	57.0					9																	95400457		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95400457C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.742G>A	9.37:g.95400457C>T	ENSP00000287996:p.Ala248Thr						p.A248T	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			9	1018	-			248					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.742G>A	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811618	0.32053	.	.	ENSG00000127080	ENST00000287996	T	0.30182	1.54	5.24	2.36	0.29203	.	0.478026	0.24647	N	0.036741	T	0.13756	0.0333	N	0.12182	0.205	0.80722	D	1	B	0.30563	0.285	B	0.28916	0.096	T	0.11348	-1.0591	10	0.22706	T	0.39	-11.1241	5.4905	0.16773	0.14:0.644:0.0:0.216	.	248	Q9H8X2	IPPK_HUMAN	T	248	ENSP00000287996:A248T	ENSP00000287996:A248T	A	-	1	0	IPPK	94440278	1.000000	0.71417	0.822000	0.32727	0.818000	0.46254	1.935000	0.40173	0.300000	0.22699	-0.258000	0.10820	GCC		0.637	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		8	14	0	0	0	1	0	8	14				
PFKM	5213	broad.mit.edu	37	12	48537872	48537872	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48537872A>G	ENST00000312352.7	+	20	1963	c.1924A>G	c.(1924-1926)Aac>Gac	p.N642D	PFKM_ENST00000340802.6_Missense_Mutation_p.N713D|PFKM_ENST00000551804.1_Missense_Mutation_p.N611D|PFKM_ENST00000395233.2_Missense_Mutation_p.N611D|PFKM_ENST00000359794.5_Missense_Mutation_p.N642D|PFKM_ENST00000547587.1_Missense_Mutation_p.N642D	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	642	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCATTTTCAACCTGTACTC	0.502																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2137-2139)Aac>Gac		phosphofructokinase, muscle							207.0	196.0	199.0					12																	48537872		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48537872A>G	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1924A>G	12.37:g.48537872A>G	ENSP00000309438:p.Asn642Asp					PFKM_ENST00000547587.1_Missense_Mutation_p.N642D|PFKM_ENST00000395233.2_Missense_Mutation_p.N611D|PFKM_ENST00000359794.5_Missense_Mutation_p.N642D|PFKM_ENST00000551804.1_Missense_Mutation_p.N611D|PFKM_ENST00000312352.7_Missense_Mutation_p.N642D	p.N713D	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			22	2361	+			642					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.2137A>G	CCDS8760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.96|16.96	3.265135|3.265135	0.59431|0.59431	.|.	.|.	ENSG00000152556|ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352|ENST00000553055	T;T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Phosphofructokinase domain (2);|.	0.087164|.	0.85682|.	D|.	0.000000|.	T|T	0.48295|0.48295	0.1492|0.1492	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	P;P;B|.	0.44478|.	0.712;0.836;0.094|.	P;P;B|.	0.49953|.	0.457;0.627;0.044|.	T|T	0.43621|0.43621	-0.9380|-0.9380	10|5	0.06494|.	T|.	0.89|.	-27.1914|-27.1914	14.5477|14.5477	0.68044|0.68044	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	611;642;713|.	P08237-2;P08237;Q6ZTT1|.	.;K6PF_HUMAN;.|.	D|R	713;642;611;611;642;642|67	ENSP00000345771:N713D;ENSP00000352842:N642D;ENSP00000378656:N611D;ENSP00000448177:N611D;ENSP00000449426:N642D;ENSP00000309438:N642D|.	ENSP00000309438:N642D|.	N|Q	+|+	1|2	0|0	PFKM|PFKM	46824139|46824139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.785000|4.785000	0.62418|0.62418	2.167000|2.167000	0.68274|0.68274	0.460000|0.460000	0.39030|0.39030	AAC|CAA		0.502	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		43	65	0	0	0	1	0	43	65				
LONRF1	91694	broad.mit.edu	37	8	12594257	12594257	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12594257T>C	ENST00000398246.3	-	6	1473	c.1404A>G	c.(1402-1404)ccA>ccG	p.P468P	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.P111P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	468							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAATTCTTCTGGAATATCAC	0.313																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1402-1404)ccA>ccG		LON peptidase N-terminal domain and ring finger 1							80.0	75.0	77.0					8																	12594257		1816	4069	5885	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594257T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1404A>G	8.37:g.12594257T>C						LONRF1_ENST00000533751.1_Silent_p.P111P	p.P468P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	6	1473	-			468					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1404A>G	CCDS5987.2																																																																																				0.313	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		46	60	0	0	0	1	0	46	60				
METTL4	64863	broad.mit.edu	37	18	2544202	2544202	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:2544202G>A	ENST00000574538.1	-	8	2040	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	METTL4_ENST00000319888.6_Intron	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	422					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAGCAAGCGGTGGCTTATG	0.358																																						ENST00000574538.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1264-1266)cCg>cTg		methyltransferase like 4							54.0	55.0	54.0					18																	2544202		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2544202G>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1265C>T	18.37:g.2544202G>A	ENSP00000458290:p.Pro422Leu					METTL4_ENST00000319888.6_Intron	p.P422L	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN			8	2040	-			422					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.1265C>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035116	0.75617	.	.	ENSG00000101574	ENST00000319888	.	.	.	4.77	4.77	0.60923	.	0.128816	0.52532	D	0.000068	D	0.83124	0.5186	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.83794	0.0232	9	0.37606	T	0.19	-0.3785	18.1523	0.89678	0.0:0.0:1.0:0.0	.	422	Q8N3J2	METL4_HUMAN	L	422	.	ENSP00000320349:P422L	P	-	2	0	METTL4	2534202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.503000	0.73699	2.341000	0.79615	0.585000	0.79938	CCG		0.358	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		27	29	0	0	0	1	0	27	29				
SLCO6A1	133482	broad.mit.edu	37	5	101834537	101834537	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:101834537G>A	ENST00000506729.1	-	1	183	c.12C>T	c.(10-12)ggC>ggT	p.G4G	SLCO6A1_ENST00000379807.3_Silent_p.G4G|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Silent_p.G4G|SLCO6A1_ENST00000513675.1_Silent_p.G4G|SLCO6A1_ENST00000389019.3_Silent_p.G4G|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCGGGCGACGCCTACGAACA	0.701																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(10-12)ggC>ggT		solute carrier organic anion transporter family, member 6A1							58.0	69.0	65.0					5																	101834537		2200	4288	6488	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834537G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.12C>T	5.37:g.101834537G>A						SLCO6A1_ENST00000379810.1_Silent_p.G4G|SLCO6A1_ENST00000513675.1_Silent_p.G4G|SLCO6A1_ENST00000379807.3_Silent_p.G4G|SLCO6A1_ENST00000389019.3_Silent_p.G4G	p.G4G			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	183	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	4					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.12C>T	CCDS34206.1																																																																																				0.701	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		53	81	0	0	0	1	0	53	81				
KIT	3815	broad.mit.edu	37	4	55602953	55602953	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55602953G>A	ENST00000288135.5	+	19	2760	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAGGCTTCCGGATGCTCAGC	0.428		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2662-2664)cGg>cAg		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						84.0	81.0	82.0					4																	55602953		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602953G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2663G>A	4.37:g.55602953G>A	ENSP00000288135:p.Arg888Gln						p.R888Q	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2760	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		888			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2663G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863934	0.71949	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.84589	-1.87;-1.87	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	D	0.92260	0.7545	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.89778	0.3959	10	0.25106	T	0.35	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	884;888	P10721-2;P10721	.;KIT_HUMAN	Q	888;884	ENSP00000288135:R888Q;ENSP00000390987:R884Q	ENSP00000288135:R888Q	R	+	2	0	KIT	55297710	1.000000	0.71417	0.980000	0.43619	0.527000	0.34593	7.763000	0.85283	2.625000	0.88918	0.655000	0.94253	CGG		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			16	49	0	0	0	1	0	16	49				
ADAMTS17	170691	broad.mit.edu	37	15	100537606	100537606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100537606G>A	ENST00000268070.4	-	19	2885	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	927	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACTCAGACGCCTCCCAGAT	0.662																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2779-2781)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							43.0	46.0	45.0					15																	100537606		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537606G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2780C>T	15.37:g.100537606G>A	ENSP00000268070:p.Ala927Val						p.A927V	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	19	2885	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		927			TSP type-1 4.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2780C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999887	0.93227	.	.	ENSG00000140470	ENST00000268070	T	0.52526	0.66	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.56645	0.1999	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47598	-0.9105	10	0.07482	T	0.82	.	18.4035	0.90525	0.0:0.0:1.0:0.0	.	927	Q8TE56	ATS17_HUMAN	V	927	ENSP00000268070:A927V	ENSP00000268070:A927V	A	-	2	0	ADAMTS17	98355129	1.000000	0.71417	0.937000	0.37676	0.985000	0.73830	8.776000	0.91776	2.327000	0.79052	0.563000	0.77884	GCG		0.662	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		17	28	0	0	0	1	0	17	28				
BCAN	63827	broad.mit.edu	37	1	156617818	156617818	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156617818G>A	ENST00000329117.5	+	5	1021	c.685G>A	c.(685-687)Gat>Aat	p.D229N	BCAN_ENST00000361588.5_Missense_Mutation_p.D229N|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	229	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGAGACATGGATGGCTTCCC	0.532																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(685-687)Gat>Aat		brevican							131.0	127.0	129.0					1																	156617818		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617818G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.685G>A	1.37:g.156617818G>A	ENSP00000331210:p.Asp229Asn					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D229N	p.D229N	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			5	1021	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		229			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.685G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267870	0.59540	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.17370	2.48;2.28;3.2	3.9	3.9	0.45041	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.56097	D	0.000026	T	0.09247	0.0228	L	0.31845	0.965	0.44214	D	0.997048	P;P	0.42908	0.793;0.584	P;B	0.51895	0.683;0.285	T	0.12863	-1.0531	10	0.23891	T	0.37	-14.9233	5.8707	0.18802	0.2171:0.0:0.7829:0.0	.	229;229	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	N	170;229;127;229	ENSP00000331210:D229N;ENSP00000401709:D127N;ENSP00000354925:D229N	ENSP00000255029:D170N	D	+	1	0	BCAN	154884442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.668000	0.46816	2.005000	0.58758	0.555000	0.69702	GAT		0.532	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		22	44	0	0	0	1	0	22	44				
BCLAF1	9774	broad.mit.edu	37	6	136599627	136599627	+	Missense_Mutation	SNP	C	C	A	rs149799182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:136599627C>A	ENST00000531224.1	-	4	644	c.392G>T	c.(391-393)cGg>cTg	p.R131L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.R131P(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(391-393)cGg>cTg		BCL2-associated transcription factor 1							189.0	202.0	198.0					6																	136599627		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599627C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.392G>T	6.37:g.136599627C>A	ENSP00000435210:p.Arg131Leu					BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131L	p.R131L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	644	-	Colorectal(23;0.24)		131					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.392G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842445	0.51057	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.64	5.64	0.86602	.	0.213045	0.33346	N	0.005007	T	0.09512	0.0234	N	0.24115	0.695	0.80722	D	1	P;D;P;P	0.56035	0.949;0.974;0.949;0.949	P;P;P;P	0.52481	0.556;0.7;0.556;0.556	T	0.06006	-1.0851	10	0.46703	T	0.11	-4.8627	12.9743	0.58529	0.0:0.9259:0.0:0.074	.	129;129;131;131	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	131;129;131;131;129;129;131	ENSP00000435210:R131L;ENSP00000229446:R129L;ENSP00000435441:R131L;ENSP00000436501:R131L;ENSP00000434826:R129L;ENSP00000376159:R129L;ENSP00000431734:R131L	ENSP00000229446:R129L	R	-	2	0	BCLAF1	136641320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.673000	0.54591	2.660000	0.90430	0.557000	0.71058	CGG		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		44	161	1	0	2.47872e-24	1	2.76515e-24	44	161				
PKD2L1	9033	broad.mit.edu	37	10	102056787	102056787	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102056787G>A	ENST00000318222.3	-	6	1517	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	PKD2L1_ENST00000353274.3_Missense_Mutation_p.L379F|PKD2L1_ENST00000338519.3_Missense_Mutation_p.L304F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	379					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGGTAGCGAAGCCGGTGAATG	0.517																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1135-1137)Ctt>Ttt		polycystic kidney disease 2-like 1							118.0	105.0	109.0					10																	102056787		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056787G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1135C>T	10.37:g.102056787G>A	ENSP00000325296:p.Leu379Phe					PKD2L1_ENST00000338519.3_Missense_Mutation_p.L304F|PKD2L1_ENST00000353274.3_Missense_Mutation_p.L379F	p.L379F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	6	1517	-		Colorectal(252;0.117)	379					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1135C>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338599	0.24253	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.97505	-4.41;-4.41;-4.41	4.71	1.77	0.24775	Polycystin cation channel, PKD1/PKD2 (1);	0.468359	0.22983	N	0.053299	D	0.90659	0.7070	N	0.26042	0.785	0.44432	D	0.997353	B;B	0.12013	0.005;0.003	B;B	0.18263	0.015;0.021	T	0.80856	-0.1195	10	0.09338	T	0.73	-3.8089	4.5989	0.12343	0.2887:0.0:0.5546:0.1567	.	332;379	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	F	304;379;379;377	ENSP00000345068:L304F;ENSP00000266049:L379F;ENSP00000325296:L379F	ENSP00000325296:L379F	L	-	1	0	PKD2L1	102046777	0.455000	0.25736	0.974000	0.42286	0.883000	0.51084	0.315000	0.19451	0.680000	0.31366	0.561000	0.74099	CTT		0.517	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		19	19	0	0	0	1	0	19	19				
PXYLP1	92370	broad.mit.edu	37	3	141011925	141011925	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:141011925C>T	ENST00000286353.4	+	6	1458	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	ACPL2_ENST00000393007.1_Missense_Mutation_p.R425C|ACPL2_ENST00000504264.1_Missense_Mutation_p.R424C|ACPL2_ENST00000393010.2_Missense_Mutation_p.R441C|ACPL2_ENST00000502783.1_Missense_Mutation_p.R403C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Missense_Mutation_p.R432C	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		441						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CCACCACAAGCGTTCTCCCAA	0.493																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(1294-1296)Cgt>Tgt		acid phosphatase-like 2							100.0	97.0	98.0					3																	141011925		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141011925C>T																												ENST00000286353.4:c.1321C>T	3.37:g.141011925C>T	ENSP00000286353:p.Arg441Cys					ACPL2_ENST00000502783.1_Missense_Mutation_p.R403C|ACPL2_ENST00000504264.1_Missense_Mutation_p.R424C|ACPL2_ENST00000286353.4_Missense_Mutation_p.R441C|ACPL2_ENST00000393007.1_Missense_Mutation_p.R425C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R441C	p.R432C			Q8TE99	ACPL2_HUMAN			5	3201	+			441					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.1294C>T	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436909	0.62955	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.72	5.72	0.89469	.	0.486738	0.24828	N	0.035266	T	0.68265	0.2982	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.56968	0.978;0.978	B;B	0.40410	0.306;0.328	T	0.68827	-0.5306	10	0.35671	T	0.21	.	12.3507	0.55146	0.1684:0.8316:0.0:0.0	.	424;441	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	C	441;403;441;424;432;425	ENSP00000286353:R441C;ENSP00000422558:R403C;ENSP00000376733:R441C;ENSP00000426877:R424C;ENSP00000422901:R432C;ENSP00000376731:R425C	ENSP00000286353:R441C	R	+	1	0	ACPL2	142494615	1.000000	0.71417	0.867000	0.34043	0.952000	0.60782	4.727000	0.61993	2.691000	0.91804	0.655000	0.94253	CGT		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			33	56	0	0	0	1	0	33	56				
PRKAA2	5563	broad.mit.edu	37	1	57161695	57161695	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57161695G>A	ENST00000371244.4	+	6	717	c.651G>A	c.(649-651)gaG>gaA	p.E217E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTGATGATGAGCATGTACCTA	0.433																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(649-651)gaG>gaA		protein kinase, AMP-activated, alpha 2 catalytic subunit							326.0	318.0	321.0					1																	57161695		2203	4300	6503	SO:0001819	synonymous_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161695G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.651G>A	1.37:g.57161695G>A							p.E217E	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	717	+			217			Protein kinase.		Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	c.651G>A	CCDS605.1																																																																																				0.433	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		92	148	0	0	0	1	0	92	148				
NBAS	51594	broad.mit.edu	37	2	15693592	15693592	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15693592C>T	ENST00000281513.5	-	5	318	c.293G>A	c.(292-294)gGa>gAa	p.G98E	NBAS_ENST00000441750.1_Missense_Mutation_p.G98E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	98					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAAGCTTTCCATTGCTTTT	0.299																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(292-294)gGa>gAa		neuroblastoma amplified sequence							42.0	45.0	44.0					2																	15693592		2202	4295	6497	SO:0001583	missense	51594							g.chr2:15693592C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.293G>A	2.37:g.15693592C>T	ENSP00000281513:p.Gly98Glu					NBAS_ENST00000441750.1_Missense_Mutation_p.G98E	p.G98E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			5	318	-			98					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.293G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772461	0.49680	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.69561	-0.41;-0.41	4.57	4.57	0.56435	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.68593	2.085	0.27423	N	0.954232	D	0.89917	1.0	D	0.91635	0.999	T	0.73836	-0.3857	10	0.87932	D	0	.	14.6171	0.68558	0.0:1.0:0.0:0.0	.	98	A2RRP1	NBAS_HUMAN	E	98	ENSP00000413201:G98E;ENSP00000281513:G98E	ENSP00000281513:G98E	G	-	2	0	NBAS	15611043	1.000000	0.71417	0.877000	0.34402	0.917000	0.54804	5.532000	0.67154	2.257000	0.74773	0.305000	0.20034	GGA		0.299	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		31	48	0	0	0	1	0	31	48				
TNKS	8658	broad.mit.edu	37	8	9413926	9413926	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:9413926T>C	ENST00000310430.6	+	1	503	c.477T>C	c.(475-477)gtT>gtC	p.V159V	TNKS_ENST00000520408.1_Silent_p.V159V|TNKS_ENST00000522110.1_Silent_p.V159V|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	159					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGGCCGGAGTTAGCAGCACAG	0.647																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(475-477)gtT>gtC		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							69.0	73.0	72.0					8																	9413926		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413926T>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.477T>C	8.37:g.9413926T>C						TNKS_ENST00000522110.1_Silent_p.V159V|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Silent_p.V159V	p.V159V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	503	+			159					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.477T>C	CCDS5974.1																																																																																				0.647	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		22	38	0	0	0	1	0	22	38				
OR4L1	122742	broad.mit.edu	37	14	20528812	20528812	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20528812C>T	ENST00000315683.1	+	1	609	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTGCTGACAGCGGGCTGCTCT	0.433																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(607-609)agC>agT		olfactory receptor, family 4, subfamily L, member 1							236.0	217.0	223.0					14																	20528812		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528812C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.609C>T	14.37:g.20528812C>T							p.S203S	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	609	+	all_cancers(95;0.00108)		203					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.609C>T	CCDS32029.1																																																																																				0.433	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			43	68	0	0	0	1	0	43	68				
TTN	7273	broad.mit.edu	37	2	179444834	179444834	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179444834G>A	ENST00000591111.1	-	268	62481	c.62257C>T	c.(62257-62259)Cgt>Tgt	p.R20753C	TTN_ENST00000342992.6_Missense_Mutation_p.R19826C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13454C|TTN_ENST00000460472.2_Missense_Mutation_p.R13329C|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22394C|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13521C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20753	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCATCACGTTTTTGTACC	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67180-67182)Cgt>Tgt		titin							170.0	163.0	166.0					2																	179444834		1890	4123	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444834G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62257C>T	2.37:g.179444834G>A	ENSP00000465570:p.Arg20753Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13521C|TTN_ENST00000591111.1_Missense_Mutation_p.R20753C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13329C|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19826C|TTN_ENST00000359218.5_Missense_Mutation_p.R13454C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R22394C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		318	67404	-			20753			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67180C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691064	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79684	0.4488	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81920	-0.0712	9	0.87932	D	0	.	19.7274	0.96170	0.0:0.0:1.0:0.0	.	13329;13454;13521;20753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19826;13329;13521;13454;13327	ENSP00000343764:R19826C;ENSP00000434586:R13329C;ENSP00000340554:R13521C;ENSP00000352154:R13454C	ENSP00000340554:R13521C	R	-	1	0	TTN	179153080	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.002000	0.88514	2.663000	0.90544	0.563000	0.77884	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	74	0	0	0	1	0	35	74				
TLE1	7088	broad.mit.edu	37	9	84208159	84208159	+	Silent	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84208159A>C	ENST00000376499.3	-	15	2426	c.1362T>G	c.(1360-1362)ggT>ggG	p.G454G		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	454					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCTGCATCTGACCGTCTGCAG	0.542																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1360-1362)ggT>ggG		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							77.0	72.0	74.0					9																	84208159		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208159A>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1362T>G	9.37:g.84208159A>C							p.G454G	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2426	-			454					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1362T>G	CCDS6661.1																																																																																				0.542	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		14	30	0	0	0	1	0	14	30				
SERPINB13	5275	broad.mit.edu	37	18	61255918	61255918	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:61255918C>T	ENST00000344731.5	+	2	119	c.17C>T	c.(16-18)gCc>gTc	p.A6V	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A6V	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	6					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACTTGGCGCCGTCAGCACT	0.423																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(16-18)gCc>gTc		serpin peptidase inhibitor, clade B (ovalbumin), member 13							92.0	89.0	90.0					18																	61255918		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61255918C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.17C>T	18.37:g.61255918C>T	ENSP00000341584:p.Ala6Val					SERPINB13_ENST00000269489.5_Missense_Mutation_p.A6V	p.A6V	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			2	119	+			6					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.17C>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610112	0.46527	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.83250	-0.9;2.75;-1.7	4.89	0.804	0.18697	Serpin domain (1);	0.665922	0.13840	N	0.359130	T	0.67411	0.2890	N	0.17872	0.535	0.09310	N	1	B;B	0.27910	0.136;0.193	B;B	0.30716	0.091;0.119	T	0.55276	-0.8166	10	0.35671	T	0.21	.	4.3236	0.11029	0.3937:0.404:0.1282:0.0741	.	6;6	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	V	36;6;6;6	ENSP00000388300:A36V;ENSP00000269489:A6V;ENSP00000341584:A6V	ENSP00000269489:A6V	A	+	2	0	SERPINB13	59406898	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.081000	0.14823	0.245000	0.21373	0.561000	0.74099	GCC		0.423	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		24	41	0	0	0	1	0	24	41				
TRAK1	22906	broad.mit.edu	37	3	42167092	42167092	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42167092C>T	ENST00000327628.5	+	2	672	c.272C>T	c.(271-273)aCg>aTg	p.T91M	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	91	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATTGAAGAGACGTTAAAATAC	0.463																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(271-273)aCg>aTg		trafficking protein, kinesin binding 1							122.0	114.0	117.0					3																	42167092		1952	4136	6088	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167092C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.272C>T	3.37:g.42167092C>T	ENSP00000328998:p.Thr91Met					TRAK1_ENST00000487159.1_3'UTR	p.T91M	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			2	672	+			91			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.272C>T	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455276	0.84209	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.18810	2.19	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.41016	-0.9532	10	0.87932	D	0	.	18.8873	0.92383	0.0:1.0:0.0:0.0	.	91;91	B7Z347;Q9UPV9	.;TRAK1_HUMAN	M	91	ENSP00000328998:T91M	ENSP00000328998:T91M	T	+	2	0	TRAK1	42142096	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.042000	0.70996	2.708000	0.92522	0.655000	0.94253	ACG		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		6	83	0	0	0	1	0	6	83				
IL18RAP	8807	broad.mit.edu	37	2	103067347	103067347	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103067347G>T	ENST00000264260.2	+	11	1839	c.1250G>T	c.(1249-1251)tGg>tTg	p.W417L	IL18RAP_ENST00000409369.1_Missense_Mutation_p.W275L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	417	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TATGCAAAATGGAGCTCTTTT	0.343																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1249-1251)tGg>tTg		interleukin 18 receptor accessory protein							103.0	113.0	110.0					2																	103067347		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103067347G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1250G>T	2.37:g.103067347G>T	ENSP00000264260:p.Trp417Leu					IL18RAP_ENST00000409369.1_Missense_Mutation_p.W275L	p.W417L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			11	1839	+			417			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1250G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258292	0.01445	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07567	3.18;3.18	5.58	-2.39	0.06602	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.113080	0.06696	N	0.770494	T	0.05227	0.0139	L	0.33137	0.985	0.09310	N	1	B	0.15719	0.014	B	0.15870	0.014	T	0.46091	-0.9216	10	0.11485	T	0.65	.	3.5781	0.07942	0.1101:0.3972:0.1406:0.3521	.	417	O95256	I18RA_HUMAN	L	417;275	ENSP00000264260:W417L;ENSP00000387201:W275L	ENSP00000264260:W417L	W	+	2	0	IL18RAP	102433779	0.000000	0.05858	0.003000	0.11579	0.117000	0.20001	-0.695000	0.05109	-0.114000	0.11936	-0.150000	0.13652	TGG		0.343	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		4	94	1	0	0.00024832	1	0.000253518	4	94				
KALRN	8997	broad.mit.edu	37	3	124385389	124385389	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124385389C>T	ENST00000291478.5	+	13	1508	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	KALRN_ENST00000393496.1_Missense_Mutation_p.R487C|KALRN_ENST00000360013.3_Missense_Mutation_p.R2146C|KALRN_ENST00000428018.2_Missense_Mutation_p.R417C|KALRN_ENST00000459915.1_Missense_Mutation_p.R238C	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2145					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAGAGGCGCGTGTTCCT	0.547																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(6436-6438)Cgc>Tgc		kalirin, RhoGEF kinase							96.0	85.0	89.0					3																	124385389		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124385389C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1345C>T	3.37:g.124385389C>T	ENSP00000291478:p.Arg449Cys					KALRN_ENST00000393496.1_Missense_Mutation_p.R487C|KALRN_ENST00000428018.2_Missense_Mutation_p.R417C|KALRN_ENST00000459915.1_Missense_Mutation_p.R238C|KALRN_ENST00000291478.4_Missense_Mutation_p.R449C	p.R2146C	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			46	6563	+			2145			PH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6436C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923372	0.73213	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.15	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.90650	3.135	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.996	T	0.51084	-0.8750	10	0.87932	D	0	.	13.566	0.61819	0.193:0.807:0.0:0.0	.	238;449;487;2145	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	C	2146;487;449;417;238	ENSP00000353109:R2146C;ENSP00000377134:R487C;ENSP00000291478:R449C;ENSP00000402419:R417C;ENSP00000420318:R238C	ENSP00000291478:R449C	R	+	1	0	KALRN	125868079	0.883000	0.30277	0.999000	0.59377	0.993000	0.82548	1.698000	0.37794	2.687000	0.91594	0.563000	0.77884	CGC		0.547	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		21	31	0	0	0	1	0	21	31				
CHAF1A	10036	broad.mit.edu	37	19	4433428	4433428	+	Silent	SNP	C	C	T	rs368694193		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4433428C>T	ENST00000301280.5	+	13	2666	c.2565C>T	c.(2563-2565)agC>agT	p.S855S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	855	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGGCAGCGTCCCCTCCA	0.642								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2563-2565)agC>agT	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		C		0,4406		0,0,2203	41.0	42.0	42.0		2565	-6.6	0.0	19		42	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CHAF1A	NM_005483.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		855/957	4433428	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433428C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2565C>T	19.37:g.4433428C>T							p.S855S	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2666	+		Hepatocellular(1079;0.137)	855			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.2565C>T	CCDS32875.1																																																																																				0.642	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		21	33	0	0	0	1	0	21	33				
ZNF257	113835	broad.mit.edu	37	19	22272129	22272129	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22272129G>A	ENST00000594947.1	+	4	1721	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	526				R -> T (in Ref. 1; AAD20957). {ECO:0000305}.	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.R526H(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTTTTAATCGTTTCTCATAC	0.398																																						ENST00000594947.1																			1	Substitution - Missense(1)	p.R526H(1)	breast(1)	haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1576-1578)cGt>cAt		zinc finger protein 257							36.0	40.0	39.0					19																	22272129		2102	4257	6359	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272129G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1577G>A	19.37:g.22272129G>A	ENSP00000470209:p.Arg526His						p.R526H	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1721	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	526	R -> T (in Ref. 1; AAD20957).				B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1577G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	2.281	-0.364736	0.05103	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17408	0.0418	N	0.25286	0.73	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.25745	-1.0123	8	0.16896	T	0.51	.	2.808	0.05433	0.6037:0.0:0.1779:0.2184	.	526	Q9Y2Q1	ZN257_HUMAN	H	526;498	.	ENSP00000380312:R498H	R	+	2	0	ZNF257	22063969	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-5.288000	0.00134	-1.402000	0.02056	-0.657000	0.03884	CGT		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			18	30	0	0	0	1	0	18	30				
RHOBTB1	9886	broad.mit.edu	37	10	62648833	62648833	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:62648833T>C	ENST00000337910.5	-	6	930	c.593A>G	c.(592-594)gAt>gGt	p.D198G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D198G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	198	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTCAAACACATCCTTGATACC	0.468																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(592-594)gAt>gGt		Rho-related BTB domain containing 1							165.0	167.0	166.0					10																	62648833		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648833T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.593A>G	10.37:g.62648833T>C	ENSP00000338671:p.Asp198Gly					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D198G	p.D198G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	930	-	Prostate(12;0.0112)		198			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.593A>G	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413910	0.83449	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.24151	1.87;1.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.72479	2.2	0.80722	D	1	D	0.60575	0.988	D	0.63113	0.911	T	0.51364	-0.8715	10	0.72032	D	0.01	.	16.1026	0.81194	0.0:0.0:0.0:1.0	.	198	O94844	RHBT1_HUMAN	G	198	ENSP00000350595:D198G;ENSP00000338671:D198G	ENSP00000338671:D198G	D	-	2	0	RHOBTB1	62318839	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.988000	0.88194	2.198000	0.70561	0.383000	0.25322	GAT		0.468	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			63	104	0	0	0	1	0	63	104				
SLC14A1	6563	broad.mit.edu	37	18	43319589	43319589	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43319589C>T	ENST00000321925.4	+	8	1140	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC14A1_ENST00000402943.2_Missense_Mutation_p.A198V|SLC14A1_ENST00000586142.1_Missense_Mutation_p.A303V|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A171V|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R254C|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A359V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A195V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A7V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A359V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	303					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTTCATGGCGCTCACCTGG	0.547																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(907-909)gCg>gTg		solute carrier family 14 (urea transporter), member 1							110.0	95.0	100.0					18																	43319589		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43319589C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.908C>T	18.37:g.43319589C>T	ENSP00000318546:p.Ala303Val					SLC14A1_ENST00000586142.1_Missense_Mutation_p.A303V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.A171V|SLC14A1_ENST00000502059.2_Missense_Mutation_p.A195V|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R254C|SLC14A1_ENST00000402943.2_Missense_Mutation_p.A198V|SLC14A1_ENST00000591541.1_Missense_Mutation_p.A7V|SLC14A1_ENST00000415427.3_Missense_Mutation_p.A359V|SLC14A1_ENST00000436407.3_Missense_Mutation_p.A359V	p.A303V	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			8	1140	+			303					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.908C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149104	0.57151	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.42686	1.345	0.45676	D	0.998597	P;B;P	0.39809	0.58;0.165;0.689	B;B;B	0.38712	0.126;0.05;0.28	T	0.13388	-1.0511	10	0.13853	T	0.58	-9.455	13.6754	0.62451	0.0:0.9261:0.0:0.0739	.	359;195;303	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	V	303;359;195;198;171;359	ENSP00000318546:A303V;ENSP00000412309:A359V;ENSP00000442180:A195V;ENSP00000385320:A198V;ENSP00000441998:A171V;ENSP00000390637:A359V	ENSP00000318546:A303V	A	+	2	0	SLC14A1	41573587	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	4.472000	0.60189	1.378000	0.46305	0.591000	0.81541	GCG		0.547	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		18	36	0	0	0	1	0	18	36				
PTDSS2	81490	broad.mit.edu	37	11	489597	489597	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:489597G>A	ENST00000308020.5	+	10	1155	c.979G>A	c.(979-981)Gca>Aca	p.A327T		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	327					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GTTCCTGTTGGCAGAACTGAA	0.647																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(979-981)Gca>Aca		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						55.0	48.0	51.0					11																	489597		2196	4296	6492	SO:0001583	missense	81490					integral to membrane		g.chr11:489597G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.979G>A	11.37:g.489597G>A	ENSP00000308258:p.Ala327Thr						p.A327T	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1155	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	327						Missense_Mutation	SNP	ENST00000308020.5	37	c.979G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664229	0.47572	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.12831	0.26	0.80722	D	1	P	0.40731	0.728	B	0.42030	0.373	T	0.14811	-1.0459	9	0.16420	T	0.52	-7.8323	15.6881	0.77426	0.0:0.0:1.0:0.0	.	327	Q9BVG9	PTSS2_HUMAN	T	327	.	ENSP00000308258:A327T	A	+	1	0	PTDSS2	479597	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	9.276000	0.95745	2.114000	0.64651	0.561000	0.74099	GCA		0.647	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			5	3	0	0	0	1	0	5	3				
SBF1	6305	broad.mit.edu	37	22	50901310	50901310	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50901310C>T	ENST00000390679.3	-	17	2141	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	SBF1_ENST00000380817.3_Missense_Mutation_p.A653T|SBF1_ENST00000348911.6_Missense_Mutation_p.A654T			O95248	MTMR5_HUMAN	SET binding factor 1	653					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCAGAAGGCTGTGACCAGA	0.657																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1957-1959)Gcc>Acc		SET binding factor 1							23.0	30.0	28.0					22																	50901310		2152	4241	6393	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901310C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1957G>A	22.37:g.50901310C>T	ENSP00000375097:p.Ala653Thr					SBF1_ENST00000348911.6_Missense_Mutation_p.A654T|SBF1_ENST00000390679.3_Missense_Mutation_p.A653T	p.A653T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	17	2140	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	653					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1957G>A		.	.	.	.	.	.	.	.	.	.	C	22.3	4.264873	0.80358	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.46063	0.88;0.88;0.88	4.89	4.89	0.63831	.	0.057774	0.64402	D	0.000002	T	0.58892	0.2154	L	0.59436	1.845	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.998;0.995	T	0.55642	-0.8109	10	0.38643	T	0.18	.	13.6816	0.62489	0.1551:0.8449:0.0:0.0	.	653;654;653	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	T	653;654;664;663;653	ENSP00000370196:A653T;ENSP00000252027:A654T;ENSP00000375097:A653T	ENSP00000336522:A663T	A	-	1	0	SBF1	49248176	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.392000	0.59659	2.535000	0.85469	0.561000	0.74099	GCC		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				8	16	0	0	0	1	0	8	16				
NAT8L	339983	broad.mit.edu	37	4	2065672	2065672	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2065672G>A	ENST00000423729.2	+	3	727	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A75T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	243	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAACTACTCCGCGGTGGTGCT	0.657																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(727-729)Gcg>Acg		N-acetyltransferase 8-like (GCN5-related, putative)							56.0	47.0	50.0					4																	2065672		2198	4300	6498	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065672G>A	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.727G>A	4.37:g.2065672G>A	ENSP00000413064:p.Ala243Thr					NAT8L_ENST00000331662.3_Missense_Mutation_p.A75T	p.A243T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	727	+			243			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.727G>A	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174814	0.57692	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.22539	1.95;1.95	5.39	4.46	0.54185	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.324872	0.28583	U	0.014829	T	0.13072	0.0317	L	0.31207	0.915	0.46521	D	0.999081	P	0.44627	0.839	B	0.36719	0.231	T	0.08513	-1.0718	10	0.14656	T	0.56	-15.2049	12.7544	0.57325	0.0:0.0:0.7234:0.2766	.	243	Q8N9F0	NAT8L_HUMAN	T	243;75	ENSP00000413064:A243T;ENSP00000328464:A75T	ENSP00000328464:A75T	A	+	1	0	NAT8L	2035470	0.998000	0.40836	0.141000	0.22245	0.707000	0.40811	2.748000	0.47483	2.526000	0.85167	0.457000	0.33378	GCG		0.657	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		12	16	0	0	0	1	0	12	16				
DPM1	8813	broad.mit.edu	37	20	49552742	49552742	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49552742G>A	ENST00000371588.5	-	8	647	c.621C>T	c.(619-621)taC>taT	p.Y207Y	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371582.4_Silent_p.Y234Y|DPM1_ENST00000371583.5_Silent_p.Y202Y|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	207					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCTGGAAGACGTAGCCTTTAG	0.333																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(700-702)taC>taT		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							106.0	98.0	100.0					20																	49552742		2203	4300	6503	SO:0001819	synonymous_variant	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49552742G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.621C>T	20.37:g.49552742G>A						DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Silent_p.Y207Y|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Silent_p.Y202Y	p.Y234Y			O60762	DPM1_HUMAN			9	733	-			207					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.702C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	9.027	0.986282	0.18889	.	.	ENSG00000000419	ENST00000371584	.	.	.	5.64	-7.54	0.01332	.	.	.	.	.	T	0.61899	0.2384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67015	-0.5777	4	.	.	.	-2.0574	15.2809	0.73784	0.6285:0.0:0.3715:0.0	.	.	.	.	C	242	.	.	R	-	1	0	DPM1	48986149	0.017000	0.18338	0.940000	0.37924	0.996000	0.88848	-0.803000	0.04540	-1.264000	0.02452	-0.137000	0.14449	CGT		0.333	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		21	42	0	0	0	1	0	21	42				
SENP6	26054	broad.mit.edu	37	6	76412444	76412444	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76412444C>A	ENST00000447266.2	+	19	2850	c.2372C>A	c.(2371-2373)gCt>gAt	p.A791D	SENP6_ENST00000370014.3_Missense_Mutation_p.A791D|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.A784D	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	791	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CATGAAAATGCTGTCATACAG	0.383																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2371-2373)gCt>gAt		SUMO1/sentrin specific peptidase 6							59.0	55.0	56.0					6																	76412444		1832	4093	5925	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412444C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2372C>A	6.37:g.76412444C>A	ENSP00000402527:p.Ala791Asp					SENP6_ENST00000370010.2_Missense_Mutation_p.A784D|SENP6_ENST00000447266.2_Missense_Mutation_p.A791D|SENP6_ENST00000541192.1_Intron	p.A791D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	2991	+		all_hematologic(105;0.189)	791			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.2372C>A	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265533	0.40095	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.12774	2.65;2.65;2.65	5.74	2.47	0.30058	.	0.723156	0.13837	N	0.359285	T	0.03564	0.0102	L	0.33485	1.01	0.20926	N	0.999829	B;B	0.31383	0.321;0.023	B;B	0.32583	0.148;0.02	T	0.41179	-0.9523	10	0.29301	T	0.29	-0.6313	8.4866	0.33076	0.118:0.6969:0.1147:0.0703	.	784;791	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	D	784;791;791	ENSP00000359027:A784D;ENSP00000359031:A791D;ENSP00000402527:A791D	ENSP00000359027:A784D	A	+	2	0	SENP6	76469164	0.931000	0.31567	0.994000	0.49952	0.919000	0.55068	2.350000	0.44063	0.747000	0.32809	0.579000	0.79373	GCT		0.383	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		24	47	1	0	1.9806e-07	1	2.07755e-07	24	47				
SLC18A2	6571	broad.mit.edu	37	10	119029690	119029690	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119029690G>A	ENST00000298472.5	+	14	1438	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	432					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTTGTATGGGGTATGCTATA	0.428																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(1294-1296)gGg>gAg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						292.0	250.0	264.0					10																	119029690		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119029690G>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1295G>A	10.37:g.119029690G>A	ENSP00000298472:p.Gly432Glu					SLC18A2_ENST00000497497.1_3'UTR	p.G432E	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	14	1438	+		Colorectal(252;0.19)	432					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.1295G>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298403	0.81025	.	.	ENSG00000165646	ENST00000298472	D	0.85861	-2.04	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93157	0.6554	10	0.87932	D	0	-12.6688	20.2946	0.98546	0.0:0.0:1.0:0.0	.	432	Q05940	VMAT2_HUMAN	E	432	ENSP00000298472:G432E	ENSP00000298472:G432E	G	+	2	0	SLC18A2	119019680	1.000000	0.71417	0.976000	0.42696	0.611000	0.37282	5.714000	0.68422	2.804000	0.96469	0.462000	0.41574	GGG		0.428	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		57	109	0	0	0	1	0	57	109				
ZCCHC6	79670	broad.mit.edu	37	9	88924393	88924393	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88924393A>G	ENST00000375963.3	-	20	3739	c.3567T>C	c.(3565-3567)atT>atC	p.I1189I	ZCCHC6_ENST00000375961.2_Intron|ZCCHC6_ENST00000375960.2_Silent_p.I953I|ZCCHC6_ENST00000277141.6_Silent_p.I478I|ZCCHC6_ENST00000375957.1_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1189					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GAAGGACAGGAATGACTGGTG	0.398																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1432-1434)atT>atC		zinc finger, CCHC domain containing 6							83.0	85.0	84.0					9																	88924393		2203	4300	6503	SO:0001819	synonymous_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88924393A>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3567T>C	9.37:g.88924393A>G						ZCCHC6_ENST00000375961.2_Intron|ZCCHC6_ENST00000375960.2_Silent_p.I953I|ZCCHC6_ENST00000375963.3_Silent_p.I1189I|ZCCHC6_ENST00000375957.1_Intron	p.I478I			Q5VYS8	TUT7_HUMAN			21	3858	-			1189					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	c.1434T>C	CCDS35057.1																																																																																				0.398	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		25	40	0	0	0	1	0	25	40				
OR5V1	81696	broad.mit.edu	37	6	29323599	29323599	+	Missense_Mutation	SNP	G	G	A	rs571143775	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29323599G>A	ENST00000377154.1	-	4	673	c.374C>T	c.(373-375)gCa>gTa	p.A125V	OR5V1_ENST00000543825.1_Missense_Mutation_p.A125V			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTGCAGATTGCAATGTAACG	0.418													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21180	0.0		0.0	False		,,,				2504	0.0				Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(373-375)gCa>gTa		olfactory receptor, family 5, subfamily V, member 1							73.0	73.0	73.0					6																	29323599		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323599G>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.374C>T	6.37:g.29323599G>A	ENSP00000366359:p.Ala125Val					OR5V1_ENST00000543825.1_Missense_Mutation_p.A125V	p.A125V			Q9UGF6	OR5V1_HUMAN			4	673	-			125					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.374C>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317436	0.81469	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01228	5.14;5.14	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	N	0.005722	T	0.08891	0.0220	M	0.94101	3.495	0.48185	D	0.9996	D	0.89917	1.0	D	0.85130	0.997	T	0.02860	-1.1101	10	0.87932	D	0	-47.1557	17.0395	0.86484	0.0:0.0:1.0:0.0	.	125	Q9UGF6	OR5V1_HUMAN	V	125	ENSP00000366359:A125V;ENSP00000443309:A125V	ENSP00000366356:A125V	A	-	2	0	OR5V1	29431578	1.000000	0.71417	0.202000	0.23494	0.693000	0.40251	8.520000	0.90566	2.422000	0.82143	0.543000	0.68304	GCA		0.418	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			8	46	0	0	0	1	0	8	46				
HGS	9146	broad.mit.edu	37	17	79663968	79663968	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79663968T>C	ENST00000329138.4	+	18	1957	c.1822T>C	c.(1822-1824)Tac>Cac	p.Y608H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	608	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCACGGCGTGTACATGAGCCA	0.687																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1822-1824)Tac>Cac		hepatocyte growth factor-regulated tyrosine kinase substrate							27.0	33.0	31.0					17																	79663968		2198	4289	6487	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79663968T>C	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1822T>C	17.37:g.79663968T>C	ENSP00000331201:p.Tyr608His						p.Y608H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		18	1957	+	all_neural(118;0.0878)|all_lung(278;0.23)		608			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1822T>C	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208220	0.39003	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39787	1.06	4.31	3.18	0.36537	.	0.556398	0.19424	N	0.114627	T	0.42381	0.1200	M	0.64997	1.995	0.47737	D	0.999508	P	0.36330	0.548	B	0.43052	0.406	T	0.11446	-1.0587	10	0.17369	T	0.5	-16.0449	9.1163	0.36760	0.1639:0.0:0.0:0.8361	.	608	O14964	HGS_HUMAN	H	608;522	ENSP00000331201:Y608H	ENSP00000331201:Y608H	Y	+	1	0	HGS	77274373	1.000000	0.71417	0.090000	0.20809	0.148000	0.21650	7.236000	0.78154	0.640000	0.30582	0.523000	0.50628	TAC		0.687	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		13	26	0	0	0	1	0	13	26				
NT5DC1	221294	broad.mit.edu	37	6	116432053	116432053	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116432053G>A	ENST00000319550.4	+	4	380	c.298G>A	c.(298-300)Gca>Aca	p.A100T		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	100							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGAGGTGCTGGCAGAGGCATA	0.517																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(298-300)Gca>Aca		5'-nucleotidase domain containing 1							103.0	92.0	96.0					6																	116432053		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116432053G>A	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.298G>A	6.37:g.116432053G>A	ENSP00000326858:p.Ala100Thr						p.A100T	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	4	380	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	100					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.298G>A	CCDS5104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.749|2.749	-0.260423|-0.260423	0.05791|0.05791	.|.	.|.	ENSG00000178425|ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791|ENST00000417846	T;T|.	0.22539|.	1.95;1.95|.	4.43|4.43	-0.999|-0.999	0.10208|0.10208	HAD-like domain (1);|.	0.838842|.	0.10818|.	N|.	0.630792|.	T|.	0.03220|.	0.0094|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17038|.	0.02;0.0;0.001|.	B;B;B|.	0.20384|.	0.029;0.009;0.011|.	T|.	0.39781|.	-0.9597|.	10|.	0.11182|.	T|.	0.66|.	-14.9535|-14.9535	1.1346|1.1346	0.01752|0.01752	0.1896:0.1938:0.3707:0.2459|0.1896:0.1938:0.3707:0.2459	.|.	50;100;100|.	B3KR35;A8K2Z3;Q5TFE4|.	.;.;NT5D1_HUMAN|.	T|X	100|13	ENSP00000326858:A100T;ENSP00000393578:A100T|.	ENSP00000326858:A100T|.	A|W	+|+	1|3	0|0	NT5DC1|NT5DC1	116538746|116538746	0.056000|0.056000	0.20664|0.20664	0.549000|0.549000	0.28204|0.28204	0.133000|0.133000	0.20885|0.20885	0.109000|0.109000	0.15417|0.15417	0.297000|0.297000	0.22615|0.22615	-0.314000|-0.314000	0.08810|0.08810	GCA|TGG		0.517	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		7	39	0	0	0	1	0	7	39				
CCDC30	728621	broad.mit.edu	37	1	43076730	43076730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43076730C>T	ENST00000340612.4	+	9	1465	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R278*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R489*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R489*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R278*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	489						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAATATTTGCGATTATTGAA	0.373																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1465-1467)Cga>Tga		coiled-coil domain containing 30							121.0	112.0	115.0					1																	43076730		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43076730C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1465C>T	1.37:g.43076730C>T	ENSP00000340378:p.Arg489*					CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R489*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R278*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R278*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R489*	p.R489*			Q5VVM6	CCD30_HUMAN			17	2608	+			489					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.1465C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740432	0.30865	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.68	-1.55	0.08558	.	1.060320	0.07239	N	0.863876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3869	0.44145	0.6241:0.2531:0.1228:0.0	.	.	.	.	X	489;278;489;489;278	.	ENSP00000340378:R489X	R	+	1	2	CCDC30	42849317	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.057000	0.14279	-0.219000	0.10003	0.563000	0.77884	CGA		0.373	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		12	16	0	0	0	1	0	12	16				
RYR3	6263	broad.mit.edu	37	15	34147037	34147037	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34147037C>A	ENST00000389232.4	+	98	14001	c.13931C>A	c.(13930-13932)gCt>gAt	p.A4644D	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.A4639D|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4644					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTCTTTGCTGCTCACCTATTG	0.453																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(13930-13932)gCt>gAt		ryanodine receptor 3							222.0	208.0	213.0					15																	34147037		2007	4194	6201	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34147037C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13931C>A	15.37:g.34147037C>A	ENSP00000373884:p.Ala4644Asp					RYR3_ENST00000415757.3_Missense_Mutation_p.A4639D|RYR3_ENST00000559917.1_3'UTR	p.A4644D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	98	14001	+		all_lung(180;7.18e-09)	4644					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13931C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005210	0.93287	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98550	-4.99	4.72	4.72	0.59763	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.97110	0.984;1.0	D	0.99537	1.0962	10	0.72032	D	0.01	.	18.2253	0.89915	0.0:1.0:0.0:0.0	.	4639;4644	Q15413-2;Q15413	.;RYR3_HUMAN	D	4644;4640	ENSP00000373884:A4644D	ENSP00000354735:A4640D	A	+	2	0	RYR3	31934329	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.690000	0.68241	2.601000	0.87937	0.585000	0.79938	GCT		0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	64	1	0	6.29468e-14	1	6.85409e-14	36	64				
NDRG1	10397	broad.mit.edu	37	8	134292492	134292492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:134292492G>A	ENST00000414097.2	-	3	949	c.82C>T	c.(82-84)Caa>Taa	p.Q28*	NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000354944.5_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	28					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCAAACTCTTGCAGGAGGCCG	0.403			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(82-84)Caa>Taa		N-myc downstream regulated 1							120.0	100.0	107.0					8																	134292492		2203	4300	6503	SO:0001587	stop_gained	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134292492G>A	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.82C>T	8.37:g.134292492G>A	ENSP00000404854:p.Gln28*					NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q28*|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000354944.5_Nonsense_Mutation_p.Q28*	p.Q28*	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	949	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		28					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Nonsense_Mutation	SNP	ENST00000414097.2	37	c.82C>T	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	43	10.321424	0.99382	.	.	ENSG00000104419	ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	.	.	.	5.22	5.22	0.72569	.	0.420509	0.27249	N	0.020239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-5.557	14.134	0.65273	0.0:0.0:1.0:0.0	.	.	.	.	X	28;28;28;28;45;28;28;28;39;28;82	.	ENSP00000319977:Q28X	Q	-	1	0	NDRG1	134361674	1.000000	0.71417	0.961000	0.40146	0.533000	0.34776	4.745000	0.62125	2.721000	0.93114	0.491000	0.48974	CAA		0.403	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			7	38	0	0	0	1	0	7	38				
BCAN	63827	broad.mit.edu	37	1	156626136	156626136	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156626136C>T	ENST00000329117.5	+	9	2341	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	669	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R669C(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAAGGGGTCCGCTGCCTATG	0.642																																						ENST00000329117.4																			1	Substitution - Missense(1)	p.R669C(1)	endometrium(1)	cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2005-2007)Cgc>Tgc		brevican							91.0	82.0	85.0					1																	156626136		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626136C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2005C>T	1.37:g.156626136C>T	ENSP00000331210:p.Arg669Cys					RP11-284F21.7_ENST00000448869.1_RNA	p.R669C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2341	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		669			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2005C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970691	0.53614	.	.	ENSG00000132692	ENST00000329117	D	0.92595	-3.07	5.42	4.45	0.53987	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.326943	0.25695	N	0.028917	D	0.93350	0.7880	M	0.86343	2.81	0.80722	D	1	D	0.58970	0.984	P	0.50270	0.636	D	0.93856	0.7149	10	0.59425	D	0.04	-19.1406	14.3705	0.66836	0.0:0.8512:0.1488:0.0	.	669	Q96GW7	PGCB_HUMAN	C	669	ENSP00000331210:R669C	ENSP00000331210:R669C	R	+	1	0	BCAN	154892760	0.013000	0.17824	1.000000	0.80357	0.226000	0.24999	0.607000	0.24209	2.544000	0.85801	0.561000	0.74099	CGC		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		31	40	0	0	0	1	0	31	40				
NLRC3	197358	broad.mit.edu	37	16	3614738	3614738	+	RNA	SNP	C	C	T	rs539597311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3614738C>T	ENST00000301749.7	-	0	605				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGGCCTTGCGGTGCCTCTG	0.677																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							8.0	10.0	9.0					16																	3614738		1997	4082	6079			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614738C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614738C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	605	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	15.39	2.818895	0.50633	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.78126	-0.55;-0.58;-0.55;-1.15	5.04	-1.73	0.08081	.	0.898368	0.09362	N	0.812680	T	0.49115	0.1538	.	.	.	0.09310	N	1	P	0.45283	0.855	B	0.32805	0.153	T	0.47686	-0.9098	9	0.22706	T	0.39	.	0.5354	0.00636	0.2044:0.3195:0.1394:0.3367	.	114	C9JLH9	.	H	67;67;67;114;84	ENSP00000301749:R67H;ENSP00000352039:R67H;ENSP00000414415:R114H;ENSP00000323897:R84H	ENSP00000301749:R67H	R	-	2	0	NLRC3	3554739	0.026000	0.19158	0.028000	0.17463	0.611000	0.37282	0.315000	0.19451	-0.128000	0.11641	0.655000	0.94253	CGC		0.677	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		10	11	0	0	0	1	0	10	11				
SVEP1	79987	broad.mit.edu	37	9	113168745	113168745	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113168745G>T	ENST00000401783.2	-	38	9471	c.9135C>A	c.(9133-9135)acC>acA	p.T3045T	SVEP1_ENST00000297826.5_Silent_p.T971T|SVEP1_ENST00000374469.1_Silent_p.T3022T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3045	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGGCTTCACAGGTGATTTCAG	0.483																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9133-9135)acC>acA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							45.0	46.0	46.0					9																	113168745		1922	4140	6062	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168745G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9135C>A	9.37:g.113168745G>T						SVEP1_ENST00000297826.5_Silent_p.T971T|SVEP1_ENST00000374469.1_Silent_p.T3022T	p.T3045T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9471	-			3045			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.9135C>A	CCDS48004.1																																																																																				0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	28	1	0	1.49906e-05	1	1.54943e-05	14	28				
CRK	1398	broad.mit.edu	37	17	1339932	1339932	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1339932C>T	ENST00000300574.2	-	2	899	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CRK_ENST00000398970.5_Intron|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	253	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CCAAGGCTGTCTTGTCGTAGG	0.527																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(757-759)aaG>aaA		v-crk avian sarcoma virus CT10 oncogene homolog							97.0	85.0	89.0					17																	1339932		2203	4300	6503	SO:0001819	synonymous_variant	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1339932C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.759G>A	17.37:g.1339932C>T						CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_Intron|CRK_ENST00000398970.5_Intron	p.K253K	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	899	-			253			SH3 2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	c.759G>A	CCDS11002.1																																																																																				0.527	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		17	70	0	0	0	1	0	17	70				
TBC1D15	64786	broad.mit.edu	37	12	72278612	72278612	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:72278612G>A	ENST00000550746.1	+	5	429	c.365G>A	c.(364-366)gGg>gAg	p.G122E	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G130E|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G122E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	122					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATAGAAATGGGAAAAGCAAA	0.388																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(364-366)gGg>gAg		TBC1 domain family, member 15							133.0	131.0	131.0					12																	72278612		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72278612G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.365G>A	12.37:g.72278612G>A	ENSP00000448182:p.Gly122Glu					TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G130E|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G122E	p.G122E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			5	429	+			122					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.365G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631365	0.28978	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.76	3.95	0.45737	Domain of unknown function DUF3548 (1);	0.419540	0.29730	N	0.011349	T	0.23370	0.0565	N	0.19112	0.55	0.80722	D	1	B;B;D	0.58268	0.0;0.023;0.982	B;B;P	0.55055	0.002;0.016;0.767	T	0.01998	-1.1232	10	0.06625	T	0.88	-1.6095	12.3899	0.55352	0.1358:0.0:0.8642:0.0	.	130;122;122	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	23;122;23;130;122	ENSP00000449643:G23E;ENSP00000448182:G122E;ENSP00000418091:G23E;ENSP00000318262:G130E;ENSP00000420678:G122E	ENSP00000318262:G130E	G	+	2	0	TBC1D15	70564879	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.751000	0.55165	0.785000	0.33685	-0.216000	0.12614	GGG		0.388	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		10	22	0	0	0	1	0	10	22				
P2RY11	5032	broad.mit.edu	37	19	10225358	10225358	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10225358A>G	ENST00000321826.4	+	2	1253	c.1069A>G	c.(1069-1071)Aat>Gat	p.N357D	PPAN_ENST00000556468.1_Missense_Mutation_p.N777D|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.N777D|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	357					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCTGCCCCTCAATGCCACAGC	0.657																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2329-2331)Aat>Gat		peter pan homolog (Drosophila)							45.0	52.0	50.0					19																	10225358		2203	4300	6503	SO:0001583	missense	56342							g.chr19:10225358A>G	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.1069A>G	19.37:g.10225358A>G	ENSP00000323872:p.Asn357Asp					P2RY11_ENST00000321826.4_Missense_Mutation_p.N357D|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.N777D|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.N777D					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2356	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2329A>G	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	A	9.729	1.161759	0.21538	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.61510	0.11;0.11;0.1	2.74	-1.67	0.08238	.	4.932270	0.01450	N	0.015452	T	0.42131	0.1189	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.54805	T	0.06	4.2266	2.8815	0.05648	0.4278:0.2402:0.332:0.0	.	357	Q96G91	P2Y11_HUMAN	D	777;777;357	ENSP00000377385:N777D;ENSP00000450710:N777D;ENSP00000323872:N357D	ENSP00000323872:N357D	N	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10086358	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.391000	0.07323	-0.210000	0.10140	-0.366000	0.07423	AAT		0.657	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		3	29	0	0	0	1	0	3	29				
SMARCA4	6597	broad.mit.edu	37	19	11118668	11118668	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11118668G>A	ENST00000429416.3	+	15	2373	c.2092G>A	c.(2092-2094)Gtc>Atc	p.V698I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V698I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V698I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	698					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCGATGACGTCTCTGAGGT	0.602			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2092-2094)Gtc>Atc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							115.0	87.0	97.0					19																	11118668		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11118668G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2092G>A	19.37:g.11118668G>A	ENSP00000395654:p.Val698Ile					SMARCA4_ENST00000589677.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V698I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V698I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V698I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.V698I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V698I	p.V698I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			14	2376	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	698					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2092G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731638	0.69189	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.17;-2.17;-2.17;-2.17	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.86121	0.5857	L	0.58101	1.795	0.50813	D	0.999895	P;B;B;B;P;B;B	0.48294	0.454;0.259;0.259;0.01;0.908;0.036;0.036	B;B;B;B;B;B;B	0.42916	0.018;0.029;0.029;0.007;0.402;0.007;0.007	D	0.85688	0.1305	10	0.35671	T	0.21	-38.1275	17.6521	0.88167	0.0:0.0:1.0:0.0	.	698;698;698;698;698;698;698	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	698;698;762;698;698;698;698;698	ENSP00000395654:V698I;ENSP00000350720:V698I;ENSP00000343896:V698I;ENSP00000445036:V698I;ENSP00000392837:V698I;ENSP00000397783:V698I;ENSP00000414727:V698I	ENSP00000343896:V698I	V	+	1	0	SMARCA4	10979668	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	9.515000	0.98015	2.709000	0.92574	0.561000	0.74099	GTC		0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		7	13	0	0	0	1	0	7	13				
ZSWIM4	65249	broad.mit.edu	37	19	13941491	13941491	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13941491T>C	ENST00000254323.2	+	13	2786	c.2597T>C	c.(2596-2598)gTc>gCc	p.V866A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.V700A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	866							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCTGCCATCGTCCCCCTCATC	0.652																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2596-2598)gTc>gCc		zinc finger, SWIM-type containing 4							119.0	115.0	116.0					19																	13941491		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941491T>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2597T>C	19.37:g.13941491T>C	ENSP00000254323:p.Val866Ala					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.V700A	p.V866A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2786	+			866						Missense_Mutation	SNP	ENST00000254323.2	37	c.2597T>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299857	0.81136	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.51574	0.7;0.7	4.37	4.37	0.52481	.	0.000000	0.51477	D	0.000088	T	0.59376	0.2189	L	0.55481	1.735	0.43953	D	0.996629	D;P	0.64830	0.994;0.923	D;P	0.63283	0.913;0.774	T	0.62671	-0.6805	10	0.72032	D	0.01	-33.7111	11.5172	0.50529	0.0:0.0:0.0:1.0	.	700;866	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	866;700	ENSP00000254323:V866A;ENSP00000405278:V700A	ENSP00000254323:V866A	V	+	2	0	ZSWIM4	13802491	1.000000	0.71417	0.944000	0.38274	0.975000	0.68041	7.340000	0.79292	1.603000	0.50134	0.402000	0.26972	GTC		0.652	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		43	70	0	0	0	1	0	43	70				
TMEM161A	54929	broad.mit.edu	37	19	19231627	19231627	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19231627T>C	ENST00000162044.9	-	11	1197	c.1133A>G	c.(1132-1134)tAc>tGc	p.Y378C	TMEM161A_ENST00000450333.2_Missense_Mutation_p.Y275C|TMEM161A_ENST00000587583.2_Missense_Mutation_p.Y353C	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	378					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CGGCGTCAGGTACTGCAAGCT	0.617																																						ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(823-825)tAc>tGc		transmembrane protein 161A							103.0	85.0	91.0					19																	19231627		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19231627T>C	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.1133A>G	19.37:g.19231627T>C	ENSP00000162044:p.Tyr378Cys					TMEM161A_ENST00000587583.2_Missense_Mutation_p.Y353C|TMEM161A_ENST00000162044.9_Missense_Mutation_p.Y378C	p.Y275C	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		9	861	-			378					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.824A>G	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040679	0.75732	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.72	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.77560	-0.2542	9	0.87932	D	0	-15.2668	9.5593	0.39360	0.0:0.0:0.1775:0.8225	.	275;275;378	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	C	275;378	.	ENSP00000162044:Y378C	Y	-	2	0	TMEM161A	19092627	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.725000	0.74752	0.621000	0.30232	0.402000	0.26972	TAC		0.617	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		12	29	0	0	0	1	0	12	29				
CECR2	27443	broad.mit.edu	37	22	18022110	18022110	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18022110T>C	ENST00000400585.2	+	16	2227	c.1789T>C	c.(1789-1791)Tat>Cat	p.Y597H	CECR2_ENST00000262608.8_Missense_Mutation_p.Y739H|CECR2_ENST00000400573.5_Missense_Mutation_p.Y738H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	780					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGCCATATGTATCGATCGTA	0.562																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2215-2217)Tat>Cat		cat eye syndrome chromosome region, candidate 2							30.0	31.0	31.0					22																	18022110		1885	4120	6005	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022110T>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1789T>C	22.37:g.18022110T>C	ENSP00000383428:p.Tyr597His					CECR2_ENST00000400573.4_Missense_Mutation_p.Y738H|CECR2_ENST00000400585.2_Missense_Mutation_p.Y597H	p.Y739H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2215	+		all_epithelial(15;0.139)	780					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2215T>C		.	.	.	.	.	.	.	.	.	.	T	19.60	3.857970	0.71834	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.39406	1.2;1.17;1.08	5.43	5.43	0.79202	.	0.000000	0.48767	D	0.000175	T	0.61413	0.2345	M	0.67953	2.075	0.40331	D	0.978921	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.60826	-0.7186	10	0.34782	T	0.22	-13.1271	14.1944	0.65659	0.0:0.0:0.0:1.0	.	780;597;738	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	597;738;739	ENSP00000383428:Y597H;ENSP00000383417:Y738H;ENSP00000262608:Y739H	ENSP00000262608:Y739H	Y	+	1	0	CECR2	16402110	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.524000	0.67105	2.279000	0.76181	0.533000	0.62120	TAT		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		10	16	0	0	0	1	0	10	16				
TUBA8	51807	broad.mit.edu	37	22	18613794	18613794	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18613794A>G	ENST00000330423.3	+	5	1314	c.1241A>G	c.(1240-1242)gAa>gGa	p.E414G	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348G	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GAGGGGATGGAAGAAGGAGAA	0.542																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(1240-1242)gAa>gGa		tubulin, alpha 8							72.0	68.0	69.0					22																	18613794		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18613794A>G	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1241A>G	22.37:g.18613794A>G	ENSP00000333326:p.Glu414Gly					TUBA8_ENST00000316027.6_Missense_Mutation_p.E348G	p.E414G	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			5	1314	+			414					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.1241A>G	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	19.93	3.918128	0.73098	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.85861	-2.04;-2.04;-2.04	5.19	5.19	0.71726	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.050010	0.85682	N	0.000000	D	0.93910	0.8051	H	0.94423	3.535	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.65573	0.936;0.839	D	0.95457	0.8539	10	0.87932	D	0	.	14.5342	0.67947	1.0:0.0:0.0:0.0	.	438;414	C9J2C0;Q9NY65	.;TBA8_HUMAN	G	348;414;438	ENSP00000318575:E348G;ENSP00000333326:E414G;ENSP00000412646:E438G	ENSP00000318575:E348G	E	+	2	0	TUBA8	16993794	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.307000	0.96226	2.077000	0.62373	0.533000	0.62120	GAA		0.542	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		31	41	0	0	0	1	0	31	41				
ACIN1	22985	broad.mit.edu	37	14	23528663	23528663	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23528663C>T	ENST00000262710.1	-	19	4047	c.3720G>A	c.(3718-3720)gaG>gaA	p.E1240E	ACIN1_ENST00000397341.3_Silent_p.E482E|ACIN1_ENST00000605057.1_Silent_p.E1182E|CDH24_ENST00000397359.3_5'Flank|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Silent_p.E513E|ACIN1_ENST00000555053.1_Silent_p.E1227E|ACIN1_ENST00000357481.2_Silent_p.E482E|ACIN1_ENST00000557515.1_Silent_p.E481E|ACIN1_ENST00000457657.1_Silent_p.E1200E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1240	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTTCGGCCCGCTCTGCCTCTT	0.592																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3718-3720)gaG>gaA		apoptotic chromatin condensation inducer 1							82.0	74.0	77.0					14																	23528663		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528663C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3720G>A	14.37:g.23528663C>T						ACIN1_ENST00000338631.6_Silent_p.E513E|ACIN1_ENST00000397341.3_Silent_p.E482E|ACIN1_ENST00000557515.1_Silent_p.E481E|ACIN1_ENST00000605057.1_Silent_p.E1182E|ACIN1_ENST00000457657.1_Silent_p.E1200E|ACIN1_ENST00000357481.2_Silent_p.E482E|ACIN1_ENST00000555053.1_Silent_p.E1227E	p.E1240E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4047	-	all_cancers(95;1.36e-05)		1240			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3720G>A	CCDS9587.1																																																																																				0.592	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		19	34	0	0	0	1	0	19	34				
MYO5A	4644	broad.mit.edu	37	15	52632448	52632448	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52632448G>A	ENST00000399231.3	-	32	4427	c.4184C>T	c.(4183-4185)gCc>gTc	p.A1395V	MYO5A_ENST00000399233.2_Missense_Mutation_p.A1392V|MYO5A_ENST00000356338.6_Missense_Mutation_p.A1368V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1368V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1395V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1395					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCAATGCGGGCCTCTGGGGG	0.622																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4183-4185)gCc>gTc		myosin VA (heavy chain 12, myoxin)							58.0	62.0	61.0					15																	52632448		1921	4111	6032	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52632448G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4184C>T	15.37:g.52632448G>A	ENSP00000382177:p.Ala1395Val					MYO5A_ENST00000356338.6_Missense_Mutation_p.A1368V|MYO5A_ENST00000358212.6_Missense_Mutation_p.A1395V|MYO5A_ENST00000399233.2_Missense_Mutation_p.A1392V|MYO5A_ENST00000553916.1_Missense_Mutation_p.A1368V	p.A1395V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	32	4427	-			1395					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4184C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582022	0.96578	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.72576	2.205	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.609;1.0	D;D;D;B;D	0.91635	0.999;0.999;0.999;0.168;0.997	T	0.52351	-0.8587	10	0.32370	T	0.25	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	125;185;188;1395;1368	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	V	1395;902;1392;1368;1395;998;1368;185	ENSP00000382177:A1395V;ENSP00000382179:A1392V;ENSP00000348693:A1368V;ENSP00000350945:A1395V;ENSP00000451109:A1368V;ENSP00000382174:A185V	ENSP00000348693:A1368V	A	-	2	0	MYO5A	50419740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	GCC		0.622	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		10	59	0	0	0	1	0	10	59				
GBF1	8729	broad.mit.edu	37	10	104128502	104128502	+	Silent	SNP	C	C	T	rs375347326		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104128502C>T	ENST00000369983.3	+	23	3143	c.2883C>T	c.(2881-2883)tgC>tgT	p.C961C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	961					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACAGGAAGTGCGCCATGATCT	0.537																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2881-2883)tgC>tgT		golgi brefeldin A resistant guanine nucleotide exchange factor 1		C	,,	0,4406		0,0,2203	136.0	120.0	125.0		2886,2883,2883	-2.2	1.0	10		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	962/1857,961/1856,961/1860	104128502	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104128502C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2883C>T	10.37:g.104128502C>T							p.C961C	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	23	3143	+		Colorectal(252;0.0236)	961					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.2883C>T	CCDS7533.1																																																																																				0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			16	31	0	0	0	1	0	16	31				
GNA11	2767	broad.mit.edu	37	19	3119007	3119007	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3119007G>A	ENST00000078429.4	+	5	933	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	231					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTTTCTCGTCGCCCTCAGCGA	0.632			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(691-693)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							140.0	115.0	123.0					19																	3119007		2202	4300	6502	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3119007G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.691G>A	19.37:g.3119007G>A	ENSP00000078429:p.Ala231Thr					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.A231T	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	933	+		Hepatocellular(1079;0.137)	231					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.691G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.313925	0.40996	.	.	ENSG00000088256	ENST00000078429	T	0.77489	-1.1	3.39	2.32	0.28847	.	0.107907	0.39020	U	0.001487	D	0.91580	0.7340	H	0.98542	4.26	0.47994	D	0.999562	D	0.89917	1.0	D	0.91635	0.999	D	0.91887	0.5520	10	0.87932	D	0	.	10.7095	0.45975	0.0:0.0:0.8072:0.1928	.	231	P29992	GNA11_HUMAN	T	231	ENSP00000078429:A231T	ENSP00000078429:A231T	A	+	1	0	GNA11	3070007	1.000000	0.71417	0.032000	0.17829	0.003000	0.03518	5.188000	0.65093	0.527000	0.28560	-0.535000	0.04281	GCC		0.632	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		32	49	0	0	0	1	0	32	49				
FBLN2	2199	broad.mit.edu	37	3	13611972	13611972	+	Silent	SNP	G	G	A	rs373092793		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13611972G>A	ENST00000295760.7	+	2	186	c.117G>A	c.(115-117)ccG>ccA	p.P39P	FBLN2_ENST00000535798.1_Silent_p.P65P|FBLN2_ENST00000404922.3_Silent_p.P39P|FBLN2_ENST00000492059.1_Silent_p.P39P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	39	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGGAGTGCCCGCCGCTGGAGA	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14834	0.0		0.0	False		,,,				2504	0.0					ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(115-117)ccG>ccA		fibulin 2		G	,,	0,3968		0,0,1984	6.0	8.0	7.0		117,117,117	-8.4	0.1	3		7	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	0,1,6093	AA,AG,GG		0.0122,0.0,0.0082	,,	39/1232,39/1232,39/1185	13611972	1,12187	1984	4110	6094	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13611972G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.117G>A	3.37:g.13611972G>A						FBLN2_ENST00000535798.1_Silent_p.P65P|FBLN2_ENST00000492059.1_Silent_p.P39P|FBLN2_ENST00000295760.7_Silent_p.P39P	p.P39P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	236	+			39			N.|Subdomain NA (Cys-rich).		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.117G>A	CCDS46762.1																																																																																				0.706	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		5	6	0	0	0	1	0	5	6				
PDE9A	5152	broad.mit.edu	37	21	44152048	44152048	+	Missense_Mutation	SNP	G	G	A	rs139833833		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44152048G>A	ENST00000291539.6	+	5	491	c.431G>A	c.(430-432)cGc>cAc	p.R144H	PDE9A_ENST00000398232.3_Missense_Mutation_p.R77H|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.R103H|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.R118H|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	144					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAAGGCCAGCGCATCCCTCCA	0.632																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(430-432)cGc>cAc		phosphodiesterase 9A		G	,,,,,,,,,,,,,,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	50.0	51.0	50.0		,,,,,,,,,,,,,,230,308,353,,,431	-0.3	0.0	21	dbSNP_134	50	0,8598		0,0,4299	no	intron,intron,intron,intron,intron,intron,utr-5,intron,intron,intron,intron,intron,intron,intron,missense,missense,missense,intron,utr-5,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	,,,,,,,,,,,,,,29,29,29,,,29	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,77/527,103/553,118/568,,,144/594	44152048	2,13002	2203	4299	6502	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44152048G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.431G>A	21.37:g.44152048G>A	ENSP00000291539:p.Arg144His					PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.R77H|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.R118H|PDE9A_ENST00000398225.3_Missense_Mutation_p.R103H|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron	p.R144H	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			5	491	+			144					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.431G>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274445	0.10403	4.54E-4	0.0	ENSG00000160191	ENST00000291539;ENST00000398232;ENST00000328862;ENST00000398225	T;T;T;T	0.68765	-0.33;-0.35;-0.34;-0.34	2.85	-0.332	0.12675	.	7739.210000	0.00166	N	0.000000	T	0.41396	0.1157	N	0.08118	0	0.09310	N	1	P;P;P;B	0.36909	0.573;0.573;0.573;0.437	B;B;B;B	0.26517	0.07;0.07;0.07;0.032	T	0.36016	-0.9765	10	0.45353	T	0.12	.	4.5236	0.11971	0.2622:0.1901:0.5476:0.0	.	77;118;103;144	O76083-13;O76083-15;O76083-14;O76083	.;.;.;PDE9A_HUMAN	H	144;77;118;103	ENSP00000291539:R144H;ENSP00000381287:R77H;ENSP00000328699:R118H;ENSP00000381281:R103H	ENSP00000291539:R144H	R	+	2	0	PDE9A	43025117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.415000	0.07106	-0.238000	0.09724	-0.921000	0.02739	CGC		0.632	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			5	2	0	0	0	1	0	5	2				
PIK3C2B	5287	broad.mit.edu	37	1	204403686	204403686	+	Silent	SNP	G	G	A	rs150291272		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204403686G>A	ENST00000367187.3	-	25	4123	c.3567C>T	c.(3565-3567)taC>taT	p.Y1189Y	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.Y1161Y	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1189	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGCCCAAGACGTACGTGGCCA	0.547																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3565-3567)taC>taT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta		G		1,4405	2.1+/-5.4	0,1,2202	77.0	59.0	65.0		3567	-3.9	0.0	1	dbSNP_134	65	2,8598	3.7+/-12.6	0,2,4298	no	coding-synonymous	PIK3C2B	NM_002646.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1189/1635	204403686	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204403686G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3567C>T	1.37:g.204403686G>A						RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.Y1161Y	p.Y1189Y	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		25	4123	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1189			PI3K/PI4K.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.3567C>T	CCDS1446.1																																																																																				0.547	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	22	0	0	0	1	0	4	22				
TTN	7273	broad.mit.edu	37	2	179408999	179408999	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179408999G>A	ENST00000591111.1	-	295	91258	c.91034C>T	c.(91033-91035)gCt>gTt	p.A30345V	TTN_ENST00000342992.6_Missense_Mutation_p.A29418V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23046V|TTN_ENST00000460472.2_Missense_Mutation_p.A22921V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A31986V|TTN_ENST00000342175.6_Missense_Mutation_p.A23113V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30345	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCACGGCAGCAACTCTGAA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95956-95958)gCt>gTt		titin							95.0	89.0	91.0					2																	179408999		1906	4125	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408999G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91034C>T	2.37:g.179408999G>A	ENSP00000465570:p.Ala30345Val					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A23113V|TTN_ENST00000591111.1_Missense_Mutation_p.A30345V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A22921V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A29418V|TTN_ENST00000359218.5_Missense_Mutation_p.A23046V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.A31986V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		345	96181	-			30345			Ig-like 142.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95957C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.639253	0.87760	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63058	0.2479	N	0.17901	0.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.65713	-0.6101	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	22921;23046;23113;30345	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	29418;22921;23113;23046;22918	ENSP00000343764:A29418V;ENSP00000434586:A22921V;ENSP00000340554:A23113V;ENSP00000352154:A23046V	ENSP00000340554:A23113V	A	-	2	0	TTN	179117245	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	28	0	0	0	1	0	22	28				
LMTK2	22853	broad.mit.edu	37	7	97821546	97821546	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97821546C>T	ENST00000297293.5	+	11	2062	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	590					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCCAGCTCACGGCGCTCAGG	0.512																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1768-1770)aCg>aTg		lemur tyrosine kinase 2							53.0	52.0	52.0					7																	97821546		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821546C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1769C>T	7.37:g.97821546C>T	ENSP00000297293:p.Thr590Met						p.T590M	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2062	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		590					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1769C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.060971	0.19987	.	.	ENSG00000164715	ENST00000297293	T	0.76839	-1.05	6.09	0.211	0.15236	.	1.049210	0.07368	N	0.885278	T	0.50205	0.1602	N	0.02011	-0.69	0.09310	N	1	B	0.17852	0.024	B	0.04013	0.001	T	0.37361	-0.9709	10	0.39692	T	0.17	.	5.6854	0.17801	0.1286:0.3842:0.0:0.4871	.	590	Q8IWU2	LMTK2_HUMAN	M	590	ENSP00000297293:T590M	ENSP00000297293:T590M	T	+	2	0	LMTK2	97659482	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.955000	0.29188	0.015000	0.14971	-0.140000	0.14226	ACG		0.512	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	31	0	0	0	1	0	4	31				
SESN1	27244	broad.mit.edu	37	6	109321872	109321872	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109321872G>A	ENST00000356644.7	-	4	468	c.374C>T	c.(373-375)gCg>gTg	p.A125V	SESN1_ENST00000302071.2_Missense_Mutation_p.A59V|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Missense_Mutation_p.A184V	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	125					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATGTCTTGCCGCAGCCTTAAA	0.348																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(550-552)gCg>gTg		sestrin 1							68.0	64.0	66.0					6																	109321872		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109321872G>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.374C>T	6.37:g.109321872G>A	ENSP00000349061:p.Ala125Val					SESN1_ENST00000356644.7_Missense_Mutation_p.A125V|SESN1_ENST00000302071.2_Missense_Mutation_p.A59V	p.A184V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	1296	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	125					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.551C>T	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441536	0.96187	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.57273	0.41;0.41;0.41	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.75004	-0.3470	10	0.56958	D	0.05	-31.08	20.4777	0.99188	0.0:0.0:1.0:0.0	.	184;125	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	V	184;59;125	ENSP00000393762:A184V;ENSP00000306734:A59V;ENSP00000349061:A125V	ENSP00000306734:A59V	A	-	2	0	SESN1	109428565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GCG		0.348	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		21	33	0	0	0	1	0	21	33				
OR51B4	79339	broad.mit.edu	37	11	5322273	5322273	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5322273G>A	ENST00000380224.1	-	1	953	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAATAGGCGAATAATGCTT	0.433																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(904-906)Cgc>Tgc		olfactory receptor, family 51, subfamily B, member 4							63.0	62.0	62.0					11																	5322273		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322273G>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.904C>T	11.37:g.5322273G>A	ENSP00000369573:p.Arg302Cys					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.R302C	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	953	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	302					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.904C>T	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247671	0.22880	.	.	ENSG00000183251	ENST00000380224	T	0.41758	0.99	4.34	1.2	0.21068	.	1.039550	0.07648	N	0.931471	T	0.47783	0.1464	M	0.86864	2.845	0.09310	N	1	B	0.21071	0.051	B	0.11329	0.006	T	0.46190	-0.9209	10	0.56958	D	0.05	.	7.2737	0.26271	0.3031:0.0:0.6969:0.0	.	302	Q9Y5P0	O51B4_HUMAN	C	302	ENSP00000369573:R302C	ENSP00000369573:R302C	R	-	1	0	OR51B4	5278849	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.350000	0.20079	0.060000	0.16281	0.650000	0.86243	CGC		0.433	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		14	19	0	0	0	1	0	14	19				
CDC45	8318	broad.mit.edu	37	22	19502541	19502541	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19502541C>T	ENST00000407835.1	+	16	1666	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	CDC45_ENST00000404724.3_Silent_p.S424S|CDC45_ENST00000263201.1_Silent_p.S470S|CDC45_ENST00000437685.2_Silent_p.S502S			O75419	CDC45_HUMAN	cell division cycle 45	470					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S470R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GCCTGCTCAGCAAACACCTGC	0.602																																						ENST00000407835.1																			1	Substitution - Missense(1)	p.S470R(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1408-1410)agC>agT		cell division cycle 45							81.0	71.0	75.0					22																	19502541		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19502541C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1410C>T	22.37:g.19502541C>T						CDC45_ENST00000437685.2_Silent_p.S502S|CDC45_ENST00000263201.1_Silent_p.S470S|CDC45_ENST00000404724.3_Silent_p.S424S	p.S470S			O75419	CDC45_HUMAN			16	1666	+			470					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1410C>T	CCDS13762.1																																																																																				0.602	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		9	16	0	0	0	1	0	9	16				
PRDM9	56979	broad.mit.edu	37	5	23527522	23527522	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:23527522C>A	ENST00000296682.3	+	11	2507	c.2325C>A	c.(2323-2325)ccC>ccA	p.P775P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	775					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.577										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2323-2325)ccC>ccA		PR domain containing 9							69.0	75.0	73.0					5																	23527522		2187	4291	6478	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527522C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2325C>A	5.37:g.23527522C>A		HNSCC(3;0.000094)					p.P775P	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2507	+			775					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2325C>A	CCDS43307.1																																																																																				0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		51	56	1	0	1.46156e-29	1	1.63704e-29	51	56				
VPS13D	55187	broad.mit.edu	37	1	12371652	12371652	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12371652G>A	ENST00000358136.3	+	28	6922	c.6792G>A	c.(6790-6792)cgG>cgA	p.R2264R	VPS13D_ENST00000356315.4_Silent_p.R2264R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTATGCGGCCTTATGATT	0.443																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)cgG>cgA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							147.0	148.0	147.0					1																	12371652		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12371652G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6792G>A	1.37:g.12371652G>A						VPS13D_ENST00000356315.4_Silent_p.R2264R	p.R2264R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6922	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Silent	SNP	ENST00000358136.3	37	c.6792G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271820	0.23221	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.66	0.288	0.15719	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	2.4395	0.04490	0.2291:0.3343:0.3221:0.1146	.	.	.	.	D	1087	.	.	G	+	2	0	VPS13D	12294239	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	0.247000	0.18179	0.710000	0.31997	0.563000	0.77884	GGC		0.443	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		47	76	0	0	0	1	0	47	76				
STAG3	10734	broad.mit.edu	37	7	99779743	99779743	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99779743C>T	ENST00000426455.1	+	3	554	c.147C>T	c.(145-147)gaC>gaT	p.D49D	STAG3_ENST00000394018.2_Silent_p.D49D|STAG3_ENST00000317296.5_Silent_p.D49D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	49					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGATGAAGACACTGACTTTG	0.393																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(145-147)gaC>gaT		stromal antigen 3							124.0	115.0	118.0					7																	99779743		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99779743C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.147C>T	7.37:g.99779743C>T						STAG3_ENST00000394018.2_Silent_p.D49D|STAG3_ENST00000317296.5_Silent_p.D49D	p.D49D			Q9UJ98	STAG3_HUMAN			3	554	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		49					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.147C>T	CCDS34703.1																																																																																				0.393	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		31	23	0	0	0	1	0	31	23				
PPIP5K2	23262	broad.mit.edu	37	5	102509648	102509648	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102509648C>A	ENST00000358359.3	+	21	3010	c.2501C>A	c.(2500-2502)tCt>tAt	p.S834Y	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S834Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S834Y	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	834					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTTTGCTGTCTATTCTTCGC	0.308																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2500-2502)tCt>tAt		diphosphoinositol pentakisphosphate kinase 2							153.0	150.0	151.0					5																	102509648		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102509648C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2501C>A	5.37:g.102509648C>A	ENSP00000351126:p.Ser834Tyr					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S834Y|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S834Y	p.S834Y			O43314	VIP2_HUMAN			21	3074	+			834					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2501C>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.731239	0.69189	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	L	0.53249	1.67	0.44570	D	0.997537	D;D;D	0.65815	0.994;0.982;0.995	D;P;D	0.68943	0.961;0.891;0.934	T	0.46176	-0.9210	10	0.87932	D	0	.	16.0198	0.80473	0.0:0.8665:0.1335:0.0	.	834;834;834	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	Y	834;834;834;834;108	ENSP00000313070:S834Y;ENSP00000351126:S834Y;ENSP00000416016:S834Y;ENSP00000424948:S108Y	ENSP00000313070:S834Y	S	+	2	0	PPIP5K2	102537547	0.225000	0.23685	0.954000	0.39281	0.941000	0.58515	1.730000	0.38125	2.866000	0.98385	0.650000	0.86243	TCT		0.308	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		25	27	1	0	1.66031e-10	1	1.77558e-10	25	27				
PCDHGA2	56113	broad.mit.edu	37	5	140720865	140720865	+	Missense_Mutation	SNP	C	C	T	rs535752252		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140720865C>T	ENST00000394576.2	+	1	2327	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	776					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGCGGACACGCTC	0.527																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2326-2328)gCg>gTg									86.0	93.0	90.0					5																	140720865		2203	4300	6503	SO:0001583	missense	0							g.chr5:140720865C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2327C>T	5.37:g.140720865C>T	ENSP00000378077:p.Ala776Val					PCDHGA1_ENST00000517417.1_Intron	p.A776V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2327	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2327C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.840	1.190708	0.21954	.	.	ENSG00000081853	ENST00000394576	T	0.49720	0.77	5.39	5.39	0.77823	.	0.544744	0.13709	U	0.368267	T	0.50429	0.1615	M	0.71036	2.16	0.09310	N	1	P;B	0.43857	0.819;0.203	B;B	0.40901	0.343;0.07	T	0.51679	-0.8675	10	0.44086	T	0.13	.	13.785	0.63104	0.0:0.8464:0.1536:0.0	.	776;776	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	776	ENSP00000378077:A776V	ENSP00000378077:A776V	A	+	2	0	PCDHGA2	140701049	0.689000	0.27690	0.439000	0.26833	0.078000	0.17371	2.739000	0.47409	2.536000	0.85505	0.491000	0.48974	GCG		0.527	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		46	85	0	0	0	1	0	46	85				
LPHN2	23266	broad.mit.edu	37	1	82450947	82450947	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82450947G>A	ENST00000370728.1	+	23	4049	c.3404G>A	c.(3403-3405)cGt>cAt	p.R1135H	LPHN2_ENST00000335786.5_Missense_Mutation_p.R1135H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1135H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1122H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1122H|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1150H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1150H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1122H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1060H			O95490	LPHN2_HUMAN	latrophilin 2	1135					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATAGAGTCGTATAAGAAGA	0.323																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3403-3405)cGt>cAt		latrophilin 2							81.0	84.0	83.0					1																	82450947		2203	4294	6497	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82450947G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3404G>A	1.37:g.82450947G>A	ENSP00000359763:p.Arg1135His					LPHN2_ENST00000359929.3_Missense_Mutation_p.R1122H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1135H|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1122H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1135H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1137H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1060H|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1150H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1150H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1122H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1150H|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1150H	p.R1135H			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	23	4049	+			1135					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3404G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.965479|4.965479	0.92855|0.92855	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.74106|.	-0.75;-0.81;-0.63;-0.56;-0.75;-0.68;-0.59;-0.6;-0.59;-0.75;-0.68;-0.56;-0.63|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.87932|.	D|.	0|.	.|.	18.7659|18.7659	0.91873|0.91873	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1122;1122|.	O95490-4;O95490-2|.	.;.|.	H|I	1060;1135;1135;1150;1150;1137;1122;1122;1122;1150;1137;1150;1135|1027	ENSP00000359756:R1060H;ENSP00000359763:R1135H;ENSP00000359765:R1135H;ENSP00000359762:R1150H;ENSP00000359760:R1150H;ENSP00000359758:R1137H;ENSP00000353006:R1122H;ENSP00000359750:R1122H;ENSP00000322270:R1122H;ENSP00000359752:R1150H;ENSP00000378344:R1137H;ENSP00000271029:R1150H;ENSP00000337306:R1135H|.	ENSP00000271029:R1150H|.	R|V	+|+	2|1	0|0	LPHN2|LPHN2	82223535|82223535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.813000|9.813000	0.99286|0.99286	2.514000|2.514000	0.84764|0.84764	0.484000|0.484000	0.47621|0.47621	CGT|GTA		0.323	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	15	0	0	0	1	0	9	15				
INPP5K	51763	broad.mit.edu	37	17	1401384	1401384	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1401384C>T	ENST00000421807.2	-	8	1197	c.809G>A	c.(808-810)cGc>cAc	p.R270H	INPP5K_ENST00000542125.1_Missense_Mutation_p.R174H|INPP5K_ENST00000397335.3_Missense_Mutation_p.R178H|INPP5K_ENST00000406424.4_Missense_Mutation_p.R194H|INPP5K_ENST00000320345.6_Missense_Mutation_p.R194H	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	270	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CCACAGGATGCGATCGGTCCA	0.582																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(580-582)cGc>cAc		inositol polyphosphate-5-phosphatase K							102.0	107.0	106.0					17																	1401384		2203	4300	6503	SO:0001583	missense	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401384C>T		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.809G>A	17.37:g.1401384C>T	ENSP00000413937:p.Arg270His					INPP5K_ENST00000397335.3_Missense_Mutation_p.R178H|INPP5K_ENST00000421807.2_Missense_Mutation_p.R270H|INPP5K_ENST00000542125.1_Missense_Mutation_p.R174H|INPP5K_ENST00000320345.6_Missense_Mutation_p.R194H	p.R194H	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1441	-			270			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Missense_Mutation	SNP	ENST00000421807.2	37	c.581G>A	CCDS11004.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305769	0.95601	.	.	ENSG00000132376	ENST00000421807;ENST00000406424;ENST00000350761;ENST00000320345;ENST00000397335;ENST00000542125;ENST00000449479	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.53	5.53	0.82687	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.104107	0.64402	D	0.000006	D	0.94159	0.8126	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96109	0.9075	10	0.87932	D	0	-14.836	16.5358	0.84373	0.0:1.0:0.0:0.0	.	174;270	F5GXZ0;Q9BT40	.;INP5K_HUMAN	H	194;194;270;194;178;174;178	ENSP00000385177:R194H;ENSP00000318476:R194H;ENSP00000380496:R178H;ENSP00000440147:R174H;ENSP00000413259:R178H	ENSP00000318476:R194H	R	-	2	0	INPP5K	1348134	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.333000	0.72939	2.750000	0.94351	0.655000	0.94253	CGC		0.582	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			44	76	0	0	0	1	0	44	76				
NUDT14	256281	broad.mit.edu	37	14	105643040	105643040	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105643040G>A	ENST00000392568.2	-	4	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.R87G(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTAGCTCCCGAGGCCCGTCC	0.667										HNSCC(42;0.11)																												ENST00000392568.2																			1	Substitution - Missense(1)	p.R87G(1)	upper_aerodigestive_tract(1)	cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(259-261)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 14							44.0	45.0	45.0					14																	105643040		2199	4289	6488	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643040G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.259C>T	14.37:g.105643040G>A	ENSP00000376349:p.Arg87Trp	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA	p.R87W	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	352	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	87			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.259C>T	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825452	0.16749	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.61	1.75	0.24633	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.753271	0.12175	N	0.492693	T	0.27731	0.0682	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.24333	-1.0163	9	0.72032	D	0.01	-9.3657	4.5829	0.12267	0.1164:0.0:0.6684:0.2152	.	87	O95848	NUD14_HUMAN	W	87	.	ENSP00000376349:R87W	R	-	1	2	NUDT14	104714085	0.218000	0.23608	0.001000	0.08648	0.025000	0.11179	2.679000	0.46909	0.503000	0.28060	0.563000	0.77884	CGG		0.667	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		16	25	0	0	0	1	0	16	25				
CABP1	9478	broad.mit.edu	37	12	121098077	121098077	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121098077G>A	ENST00000316803.3	+	3	898	c.764G>A	c.(763-765)cGc>cAc	p.R255H	CABP1_ENST00000453000.1_Missense_Mutation_p.R191H|CABP1_ENST00000351200.2_Missense_Mutation_p.R52H|CABP1_ENST00000288616.3_Missense_Mutation_p.R112H	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	255	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACTGCATGCGCACCATGGGC	0.572																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(571-573)cGc>cAc		calcium binding protein 1							127.0	108.0	115.0					12																	121098077		2203	4300	6503	SO:0001583	missense	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098077G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.764G>A	12.37:g.121098077G>A	ENSP00000317310:p.Arg255His					CABP1_ENST00000316803.3_Missense_Mutation_p.R255H|CABP1_ENST00000288616.3_Missense_Mutation_p.R112H|CABP1_ENST00000351200.2_Missense_Mutation_p.R52H	p.R191H			Q9NZU7	CABP1_HUMAN			3	1084	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		255					O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.572G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489552	0.96323	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.3	5.3	0.74995	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.88437	0.3039	10	0.87932	D	0	-23.3081	18.9541	0.92650	0.0:0.0:1.0:0.0	.	191;52;112;255	C9J8G2;Q9NZU7-2;Q9NZU7-1;Q9NZU7	.;.;.;CABP1_HUMAN	H	255;112;52;191	ENSP00000317310:R255H;ENSP00000288616:R112H;ENSP00000288615:R52H;ENSP00000398959:R191H	ENSP00000288616:R112H	R	+	2	0	CABP1	119582460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.482000	0.83794	0.591000	0.81541	CGC		0.572	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		4	25	0	0	0	1	0	4	25				
HTR5A	3361	broad.mit.edu	37	7	154863323	154863323	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154863323C>T	ENST00000287907.2	+	1	1290	c.714C>T	c.(712-714)agC>agT	p.S238S	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	238					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGACCAATAGCGTCTCACCCA	0.552																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(712-714)agC>agT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							71.0	69.0	69.0					7																	154863323		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863323C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.714C>T	7.37:g.154863323C>T							p.S238S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1290	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	238					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.714C>T	CCDS5936.1																																																																																				0.552	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		8	18	0	0	0	1	0	8	18				
PTPN7	5778	broad.mit.edu	37	1	202128602	202128602	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202128602G>A	ENST00000308986.5	-	2	79				PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Missense_Mutation_p.R16W|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGGCCCTCCGCTGCTGTTCT	0.637																																						ENST00000367279.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(46-48)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 7							37.0	38.0	38.0					1																	202128602		2203	4300	6503	SO:0001627	intron_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128602G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.52-20C>T	1.37:g.202128602G>A						PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron	p.R16W	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN			1	517	-			0					B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	G	13.09	2.134279	0.37630	.	.	ENSG00000143851	ENST00000367279	T	0.04706	3.57	4.2	3.22	0.36961	.	.	.	.	.	T	0.04998	0.0134	.	.	.	0.23113	N	0.998279	D	0.54772	0.968	B	0.40636	0.335	T	0.37979	-0.9682	8	0.72032	D	0.01	.	7.4885	0.27447	0.1355:0.0:0.8645:0.0	.	16	P35236-2	.	W	16	ENSP00000356248:R16W	ENSP00000356248:R16W	R	-	1	2	PTPN7	200395225	0.007000	0.16637	0.189000	0.23252	0.132000	0.20833	0.619000	0.24388	0.790000	0.33803	-0.402000	0.06365	CGG		0.637	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		10	18	0	0	0	1	0	10	18				
MLLT1	4298	broad.mit.edu	37	19	6222297	6222297	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6222297C>T	ENST00000252674.7	-	6	1108	c.945G>A	c.(943-945)tcG>tcA	p.S315S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	315					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGCGGGGCGAGGTGCCTG	0.667			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(943-945)tcG>tcA		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							33.0	33.0	33.0					19																	6222297		2197	4300	6497	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222297C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.945G>A	19.37:g.6222297C>T							p.S315S	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	1108	-			315					Q14768	Silent	SNP	ENST00000252674.7	37	c.945G>A	CCDS12160.1																																																																																				0.667	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		8	17	0	0	0	1	0	8	17				
NOSIP	51070	broad.mit.edu	37	19	50062167	50062167	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50062167G>A	ENST00000596358.1	-	4	303	c.245C>T	c.(244-246)gCc>gTc	p.A82V	NOSIP_ENST00000339093.3_Missense_Mutation_p.A82V|NOSIP_ENST00000391853.3_Missense_Mutation_p.A82V	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	82					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CATCTGCCGGGCAATCTCCTT	0.562																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(244-246)gCc>gTc		nitric oxide synthase interacting protein							348.0	331.0	337.0					19																	50062167		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50062167G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.245C>T	19.37:g.50062167G>A	ENSP00000470034:p.Ala82Val					NOSIP_ENST00000596358.1_Missense_Mutation_p.A82V|NOSIP_ENST00000339093.3_Missense_Mutation_p.A82V	p.A82V	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	5	396	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	82					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.245C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337530	0.81911	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77750	-1.12;-1.12	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.87215	0.2250	10	0.51188	T	0.08	-32.6986	17.597	0.88014	0.0:0.0:1.0:0.0	.	82	Q9Y314	NOSIP_HUMAN	V	82	ENSP00000343497:A82V;ENSP00000375726:A82V	ENSP00000343497:A82V	A	-	2	0	NOSIP	54753979	1.000000	0.71417	0.983000	0.44433	0.682000	0.39822	5.663000	0.68038	2.444000	0.82710	0.462000	0.41574	GCC		0.562	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			106	187	0	0	0	1	0	106	187				
CEP128	145508	broad.mit.edu	37	14	81372379	81372379	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81372379C>T	ENST00000555265.1	-	5	656	c.281G>A	c.(280-282)cGt>cAt	p.R94H	CEP128_ENST00000216517.6_Missense_Mutation_p.R94H|CEP128_ENST00000281129.3_Missense_Mutation_p.R94H|CEP128_ENST00000327841.2_Missense_Mutation_p.R34H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	94						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCAATAAACGTTGACTCCG	0.368																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(280-282)cGt>cAt		centrosomal protein 128kDa							73.0	69.0	70.0					14																	81372379		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81372379C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.281G>A	14.37:g.81372379C>T	ENSP00000451162:p.Arg94His					CEP128_ENST00000281129.3_Missense_Mutation_p.R94H|CEP128_ENST00000327841.2_Missense_Mutation_p.R34H|CEP128_ENST00000216517.6_Missense_Mutation_p.R94H	p.R94H			Q6ZU80	CE128_HUMAN			5	656	-			94					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.281G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301248	0.81136	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.61859	0.64;0.64;0.07;0.18;0.14	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	L	0.36672	1.1	0.46678	D	0.999154	D;D;P	0.89917	0.987;1.0;0.901	P;D;B	0.91635	0.495;0.999;0.232	T	0.69522	-0.5123	10	0.66056	D	0.02	.	12.9617	0.58462	0.0:0.9245:0.0:0.0755	.	94;94;94	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	H	94;94;94;94;34;94;94	ENSP00000281129:R94H;ENSP00000451162:R94H;ENSP00000216517:R94H;ENSP00000451137:R94H;ENSP00000451214:R94H	ENSP00000216517:R94H	R	-	2	0	CEP128	80442132	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.058000	0.64300	1.625000	0.50366	-0.157000	0.13467	CGT		0.368	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		18	48	0	0	0	1	0	18	48				
BSN	8927	broad.mit.edu	37	3	49690940	49690940	+	Silent	SNP	C	C	T	rs376677158		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49690940C>T	ENST00000296452.4	+	5	4065	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1317					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCCAGCTCGCTGCCCCTG	0.547																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3949-3951)ctC>ctT		bassoon presynaptic cytomatrix protein							63.0	66.0	65.0					3																	49690940		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690940C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3951C>T	3.37:g.49690940C>T							p.L1317L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4065	+			1317					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3951C>T	CCDS2800.1																																																																																				0.547	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	32	0	0	0	1	0	14	32				
ROCK1	6093	broad.mit.edu	37	18	18562759	18562759	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:18562759G>A	ENST00000399799.2	-	21	3464	c.2524C>T	c.(2524-2526)Cta>Tta	p.L842L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	842	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGATCTTGTAGCTCCCGCATC	0.353																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2524-2526)Cta>Tta		Rho-associated, coiled-coil containing protein kinase 1							129.0	121.0	124.0					18																	18562759		2203	4300	6503	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18562759G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2524C>T	18.37:g.18562759G>A							p.L842L	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			21	3464	-	Melanoma(1;0.165)		842			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.2524C>T	CCDS11870.2																																																																																				0.353	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		31	32	0	0	0	1	0	31	32				
RBL1	5933	broad.mit.edu	37	20	35690594	35690594	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35690594C>T	ENST00000373664.3	-	8	1042	c.976G>A	c.(976-978)Gca>Aca	p.A326T	RBL1_ENST00000344359.3_Missense_Mutation_p.A326T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	326				Missing (in Ref. 8; AA sequence). {ECO:0000305}.	chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCTCTTCTGCGTCTGCTCCC	0.413																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(976-978)Gca>Aca		retinoblastoma-like 1 (p107)							154.0	134.0	141.0					20																	35690594		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35690594C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.976G>A	20.37:g.35690594C>T	ENSP00000362768:p.Ala326Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.A326T	p.A326T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			8	1042	-		Myeloproliferative disorder(115;0.00878)	326	Missing (in Ref. 8; AA sequence).				A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.976G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348815	0.95807	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.94092	-3.12;-3.35	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.95056	0.8191	10	0.15499	T	0.54	-23.6504	18.5852	0.91187	0.0:1.0:0.0:0.0	.	326;326	P28749-2;P28749	.;RBL1_HUMAN	T	326	ENSP00000362768:A326T;ENSP00000343646:A326T	ENSP00000343646:A326T	A	-	1	0	RBL1	35124008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.284000	0.78650	2.612000	0.88384	0.655000	0.94253	GCA		0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	51	0	0	0	1	0	7	51				
FTCD	10841	broad.mit.edu	37	21	47556899	47556899	+	3'UTR	SNP	C	C	T	rs200850490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47556899C>T	ENST00000291670.5	-	0	1671				FTCD_ENST00000359679.2_Silent_p.T536T|FTCD_ENST00000397748.1_Silent_p.T536T|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase						cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CCTCCCGCACCGTCACTCCTG	0.657																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1606-1608)acG>acA		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	C	,	1,4405	2.1+/-5.4	0,1,2202	54.0	51.0	52.0		,	-2.2	0.0	21		52	0,8600		0,0,4300	yes	utr-3,utr-3	FTCD	NM_006657.2,NM_206965.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,	47556899	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47556899C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.*2G>A	21.37:g.47556899C>T						FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Silent_p.T536T|FTCD_ENST00000291670.5_3'UTR|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000397743.1_3'UTR	p.T536T			O95954	FTCD_HUMAN		Colorectal(79;0.235)	14	1651	-	Breast(49;0.214)		43			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	c.1608G>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	1.631	-0.518942	0.04171	2.27E-4	0.0	ENSG00000160282	ENST00000446405	.	.	.	1.9	-2.23	0.06930	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.21290	N	0.999735	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	.	4.3096	0.10964	0.0:0.2278:0.1969:0.5753	.	.	.	.	Q	77	.	.	R	-	2	0	FTCD	46381327	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.274000	0.01163	-0.753000	0.04721	-0.834000	0.03071	CGG		0.657	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		9	1	0	0	0	1	0	9	1				
MTAP	4507	broad.mit.edu	37	9	21854832	21854832	+	Missense_Mutation	SNP	C	C	T	rs143080527	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:21854832C>T	ENST00000460874.2	+	6	929	c.704C>T	c.(703-705)gCg>gTg	p.A235V	MTAP_ENST00000580900.1_Missense_Mutation_p.A218V|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000380172.4_Missense_Mutation_p.A218V					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		ATCGCCATGGCGACAGATTAT	0.493													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19759	0.0		0.0	False		,,,				2504	0.0					ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(652-654)gCg>gTg		methylthioadenosine phosphorylase	Adenine(DB00173)	C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	79.0	77.0	77.0		653	5.3	1.0	9	dbSNP_134	77	0,8600		0,0,4300	no	missense	MTAP	NM_002451.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	218/284	21854832	2,13004	2203	4300	6503	SO:0001583	missense	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21854832C>T	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.704C>T	9.37:g.21854832C>T	ENSP00000461932:p.Ala235Val					MTAP_ENST00000460874.2_Missense_Mutation_p.A235V|MTAP_ENST00000580900.1_Missense_Mutation_p.A218V|RP11-145E5.5_ENST00000404796.2_Intron	p.A218V	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	6	859	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	218	A -> G (in Ref. 2; AAG38871/AAR24607).					Missense_Mutation	SNP	ENST00000460874.2	37	c.653C>T		.	.	.	.	.	.	.	.	.	.	C	16.45	3.128072	0.56721	4.54E-4	0.0	ENSG00000099810	ENST00000380172	T	0.32023	1.47	5.3	5.3	0.74995	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	N	0.02379	-0.575	0.80722	D	1	D;P	0.64830	0.994;0.46	P;B	0.50352	0.638;0.041	T	0.09443	-1.0674	10	0.02654	T	1	-19.4823	17.7411	0.88407	0.0:1.0:0.0:0.0	.	235;218	B4DUC8;Q13126	.;MTAP_HUMAN	V	218	ENSP00000369519:A218V	ENSP00000347923:A50V	A	+	2	0	MTAP	21844832	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.252000	0.78309	2.491000	0.84063	0.655000	0.94253	GCG		0.493	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		18	24	0	0	0	1	0	18	24				
PBX1	5087	broad.mit.edu	37	1	164761813	164761813	+	Silent	SNP	C	C	T	rs200580172		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:164761813C>T	ENST00000420696.2	+	3	536	c.348C>T	c.(346-348)ggC>ggT	p.G116G	PBX1_ENST00000540236.1_Silent_p.G116G|PBX1_ENST00000367897.1_Silent_p.G116G|PBX1_ENST00000560641.1_Silent_p.G11G|PBX1_ENST00000401534.1_Silent_p.G116G|PBX1_ENST00000559240.1_Silent_p.G116G|PBX1_ENST00000540246.1_Silent_p.G11G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	116					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TAGCGGAAGGCGTGGCGGGGC	0.627			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								c|||	1	0.000199681	0.0008	0.0	5008	,	,		12541	0.0		0.0	False		,,,				2504	0.0					ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(346-348)ggC>ggT		pre-B-cell leukemia homeobox 1							28.0	33.0	31.0					1																	164761813		2203	4300	6503	SO:0001819	synonymous_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164761813C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.348C>T	1.37:g.164761813C>T						PBX1_ENST00000367897.1_Silent_p.G116G|PBX1_ENST00000540246.1_Silent_p.G11G|PBX1_ENST00000540236.1_Silent_p.G116G|PBX1_ENST00000559240.1_Silent_p.G116G|PBX1_ENST00000560641.1_Silent_p.G11G|PBX1_ENST00000401534.1_Silent_p.G116G	p.G116G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			3	536	+			116					B4DSC1|F5H4U9|Q5T488	Silent	SNP	ENST00000420696.2	37	c.348C>T	CCDS1246.1																																																																																				0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		5	28	0	0	0	1	0	5	28				
ZNF236	7776	broad.mit.edu	37	18	74672658	74672658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74672658C>T	ENST00000253159.8	+	30	5458	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	ZNF236_ENST00000320610.9_Missense_Mutation_p.L1756F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1754					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATTGCACGCTTTGTGAGAA	0.527																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(5260-5262)Ctt>Ttt		zinc finger protein 236							129.0	135.0	133.0					18																	74672658		1992	4180	6172	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74672658C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5260C>T	18.37:g.74672658C>T	ENSP00000253159:p.Leu1754Phe					ZNF236_ENST00000320610.9_Missense_Mutation_p.L1756F	p.L1754F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	30	5458	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1754					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5260C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616809	0.14129	.	.	ENSG00000130856	ENST00000253159	T	0.09073	3.02	5.29	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.083328	0.52532	D	0.000077	T	0.11580	0.0282	N	0.25286	0.73	0.38995	D	0.959227	D	0.55385	0.971	P	0.62298	0.9	T	0.33445	-0.9868	10	0.13470	T	0.59	.	9.4966	0.38993	0.0:0.7815:0.1442:0.0743	.	1754	Q9UL36	ZN236_HUMAN	F	1754	ENSP00000253159:L1754F	ENSP00000253159:L1754F	L	+	1	0	ZNF236	72801646	0.883000	0.30277	0.010000	0.14722	0.300000	0.27592	2.368000	0.44222	1.221000	0.43506	0.655000	0.94253	CTT		0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			38	63	0	0	0	1	0	38	63				
USP24	23358	broad.mit.edu	37	1	55537593	55537593	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55537593G>A	ENST00000294383.6	-	67	7693	c.7694C>T	c.(7693-7695)aCg>aTg	p.T2565M	USP24_ENST00000407756.1_Missense_Mutation_p.T2405M|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2565					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATACGCTAACGTGTCCTGCAG	0.493											OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(7693-7695)aCg>aTg		ubiquitin specific peptidase 24							67.0	64.0	65.0					1																	55537593		2062	4209	6271	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55537593G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7694C>T	1.37:g.55537593G>A	ENSP00000294383:p.Thr2565Met		OREG0013507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1008	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Missense_Mutation_p.T2405M	p.T2565M	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			67	7693	-			2565					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.7694C>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265829	0.80358	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.04603	3.59;3.63	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00500	-1.1703	10	0.72032	D	0.01	.	17.5474	0.87866	0.0:0.0:1.0:0.0	.	2405	B7WPF4	.	M	2565;2405	ENSP00000294383:T2565M;ENSP00000385700:T2405M	ENSP00000294383:T2565M	T	-	2	0	USP24	55310181	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	9.024000	0.93689	2.374000	0.81015	0.655000	0.94253	ACG		0.493	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	5	0	0	0	1	0	7	5				
CYB5R4	51167	broad.mit.edu	37	6	84634191	84634191	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:84634191C>T	ENST00000369681.5	+	10	834	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	232	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTTTTCAGTGCGGGTTGTTGA	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(694-696)Cgg>Tgg		cytochrome b5 reductase 4							71.0	74.0	73.0					6																	84634191		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84634191C>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.694C>T	6.37:g.84634191C>T	ENSP00000358695:p.Arg232Trp						p.R232W	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	834	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	232			CS.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.694C>T	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819336	0.32145	.	.	ENSG00000065615	ENST00000369681	T	0.09630	2.96	6.05	5.17	0.71159	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.541790	0.21816	N	0.068693	T	0.14184	0.0343	M	0.61703	1.905	0.20196	N	0.999924	D	0.65815	0.995	P	0.58820	0.846	T	0.04723	-1.0931	10	0.59425	D	0.04	.	12.8061	0.57614	0.3986:0.6014:0.0:0.0	.	232	Q7L1T6	NB5R4_HUMAN	W	232	ENSP00000358695:R232W	ENSP00000358695:R232W	R	+	1	2	CYB5R4	84690910	0.057000	0.20700	0.242000	0.24170	0.091000	0.18340	0.524000	0.22940	1.551000	0.49450	-0.188000	0.12872	CGG		0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		22	34	0	0	0	1	0	22	34				
XIRP1	165904	broad.mit.edu	37	3	39225883	39225883	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39225883G>A	ENST00000340369.3	-	2	5282	c.5054C>T	c.(5053-5055)aCt>aTt	p.T1685I	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.T368I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1685	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGCTGGGAGTCTCTAGAGG	0.532																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5053-5055)aCt>aTt		xin actin-binding repeat containing 1							95.0	100.0	98.0					3																	39225883		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225883G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5054C>T	3.37:g.39225883G>A	ENSP00000343140:p.Thr1685Ile					XIRP1_ENST00000421646.1_Missense_Mutation_p.T368I|XIRP1_ENST00000396251.1_3'UTR	p.T1685I	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5282	-			1685			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5054C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	2.321	-0.355650	0.05138	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17528	3.95;2.27	4.4	2.22	0.28083	.	1.033930	0.07664	U	0.934176	T	0.11410	0.0278	N	0.22421	0.69	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.34527	-0.9825	10	0.54805	T	0.06	.	3.8397	0.08909	0.1429:0.0:0.4668:0.3902	.	1685	Q702N8	XIRP1_HUMAN	I	1685;368	ENSP00000343140:T1685I;ENSP00000391645:T368I	ENSP00000343140:T1685I	T	-	2	0	XIRP1	39200887	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.220000	0.17660	0.403000	0.25479	0.655000	0.94253	ACT		0.532	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		32	59	0	0	0	1	0	32	59				
BCL11A	53335	broad.mit.edu	37	2	60689317	60689317	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60689317G>A	ENST00000335712.6	-	4	957	c.730C>T	c.(730-732)Cca>Tca	p.P244S	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P244S|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P210S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P210S|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	244					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTGATCCTGGTATTCTTAGC	0.542			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(730-732)Cca>Tca		B-cell CLL/lymphoma 11A (zinc finger protein)							84.0	82.0	83.0					2																	60689317		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689317G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.730C>T	2.37:g.60689317G>A	ENSP00000338774:p.Pro244Ser					BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P244S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P210S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P210S	p.P244S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	957	-			244					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.730C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098711	0.76870	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09163	3.01;3.28;3.24;3.21	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.53249	1.67	0.80722	D	1	P;D;P;P	0.89917	0.619;1.0;0.638;0.638	B;D;B;B	0.83275	0.406;0.996;0.23;0.23	T	0.00085	-1.2097	10	0.52906	T	0.07	-0.8579	20.5407	0.99260	0.0:0.0:1.0:0.0	.	210;210;244;244	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	S	244;280;210;244;210	ENSP00000349300:P244S;ENSP00000438303:P210S;ENSP00000338774:P244S;ENSP00000351307:P210S	ENSP00000338774:P244S	P	-	1	0	BCL11A	60542821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.865000	0.98341	0.655000	0.94253	CCA		0.542	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		8	15	0	0	0	1	0	8	15				
DNAH7	56171	broad.mit.edu	37	2	196765102	196765102	+	Silent	SNP	C	C	T	rs564616488		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196765102C>T	ENST00000312428.6	-	28	4552	c.4452G>A	c.(4450-4452)acG>acA	p.T1484T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1484	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAGCGATACGTAGCCACAA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18185	0.0		0.0	False		,,,				2504	0.0					ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4450-4452)acG>acA		dynein, axonemal, heavy chain 7							169.0	170.0	170.0					2																	196765102		2007	4178	6185	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765102C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4452G>A	2.37:g.196765102C>T							p.T1484T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			28	4552	-			1484			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.4452G>A	CCDS42794.1																																																																																				0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		39	63	0	0	0	1	0	39	63				
INSR	3643	broad.mit.edu	37	19	7166397	7166397	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7166397C>T	ENST00000302850.5	-	8	1771	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	INSR_ENST00000341500.5_Silent_p.T543T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	543					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGTCGAACTCCGTCACATTCT	0.537																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1627-1629)acG>acA		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	57.0	64.0					19																	7166397		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7166397C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1629G>A	19.37:g.7166397C>T						INSR_ENST00000302850.5_Silent_p.T543T	p.T543T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			8	1668	-			543					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.1629G>A	CCDS12176.1																																																																																				0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	10	0	0	0	1	0	13	10				
EGLN2	112398	broad.mit.edu	37	19	41307260	41307260	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41307260C>T	ENST00000593726.1	+	1	1811	c.783C>T	c.(781-783)gaC>gaT	p.D261D	CTC-490E21.12_ENST00000601627.1_Missense_Mutation_p.T20M|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.D261D|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.D261D			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	261					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CCCATGTGGACGCCGTCATCC	0.657																																						ENST00000601627.1																			0											c.(58-60)aCg>aTg									36.0	33.0	34.0					19																	41307260		2203	4294	6497	SO:0001819	synonymous_variant	0							g.chr19:41307260C>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.783C>T	19.37:g.41307260C>T						RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.D261D|EGLN2_ENST00000303961.4_Silent_p.D261D|EGLN2_ENST00000593726.1_Silent_p.D261D	p.T20M							1	59	+								A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.59C>T	CCDS12567.1																																																																																				0.657	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			9	16	0	0	0	1	0	9	16				
PLEKHH2	130271	broad.mit.edu	37	2	43992576	43992576	+	Missense_Mutation	SNP	G	G	A	rs549729714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43992576G>A	ENST00000282406.4	+	30	4431	c.4321G>A	c.(4321-4323)Gcc>Acc	p.A1441T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1441	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTTTGATCGCCAGTTACAT	0.453																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(4321-4323)Gcc>Acc		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							81.0	84.0	83.0					2																	43992576		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43992576G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4321G>A	2.37:g.43992576G>A	ENSP00000282406:p.Ala1441Thr						p.A1441T	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			30	4431	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1441			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.4321G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769964	0.90020	.	.	ENSG00000152527	ENST00000282406	T	0.76839	-1.05	5.59	5.59	0.84812	FERM domain (1);	0.051564	0.85682	D	0.000000	D	0.88687	0.6504	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.88180	0.2870	10	0.44086	T	0.13	-18.1327	19.5891	0.95501	0.0:0.0:1.0:0.0	.	1441	Q8IVE3	PKHH2_HUMAN	T	1441	ENSP00000282406:A1441T	ENSP00000282406:A1441T	A	+	1	0	PLEKHH2	43846080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.579000	0.74036	2.625000	0.88918	0.467000	0.42956	GCC		0.453	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		6	49	0	0	0	1	0	6	49				
L3MBTL2	83746	broad.mit.edu	37	22	41626154	41626154	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41626154C>T	ENST00000216237.5	+	17	2175	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	673					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATTGCTGTGCGTGTGAAGGA	0.607																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2017-2019)Cgt>Tgt		l(3)mbt-like 2 (Drosophila)							65.0	58.0	61.0					22																	41626154		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41626154C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.2017C>T	22.37:g.41626154C>T	ENSP00000216237:p.Arg673Cys					CHADL_ENST00000216241.9_Intron	p.R673C	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			17	2175	+			673					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.2017C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669523	0.29693	.	.	ENSG00000100395	ENST00000216237	T	0.19105	2.17	5.0	1.68	0.24146	.	1.576260	0.03256	N	0.182544	T	0.13415	0.0325	N	0.12182	0.205	0.39199	D	0.9631	B	0.02656	0.0	B	0.01281	0.0	T	0.11227	-1.0596	10	0.42905	T	0.14	.	5.9069	0.19006	0.0:0.5853:0.0:0.4147	.	673	Q969R5	LMBL2_HUMAN	C	673	ENSP00000216237:R673C	ENSP00000216237:R673C	R	+	1	0	L3MBTL2	39956100	0.771000	0.28555	0.020000	0.16555	0.093000	0.18481	1.104000	0.31074	0.234000	0.21139	0.650000	0.86243	CGT		0.607	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		9	42	0	0	0	1	0	9	42				
CCNT2	905	broad.mit.edu	37	2	135712081	135712081	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135712081A>G	ENST00000264157.5	+	9	2086	c.2056A>G	c.(2056-2058)Aaa>Gaa	p.K686E	CCNT2_ENST00000295238.6_Missense_Mutation_p.E652G|CCNT2_ENST00000537343.1_Missense_Mutation_p.E477G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	686					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CACCCTCGTGAAACTGGACAA	0.507																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(2056-2058)Aaa>Gaa		cyclin T2							105.0	90.0	95.0					2																	135712081		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135712081A>G	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.2056A>G	2.37:g.135712081A>G	ENSP00000264157:p.Lys686Glu					CCNT2_ENST00000537343.1_Missense_Mutation_p.E477G|CCNT2_ENST00000295238.6_Missense_Mutation_p.E652G	p.K686E	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	2086	+			686					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.2056A>G	CCDS2174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.427086|3.427086	0.62733|0.62733	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000452521|ENST00000264157	T|T	0.24908|0.41065	1.83|1.01	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.320592	.|0.27600	.|N	.|0.018652	T|T	0.42040|0.42040	0.1185|0.1185	L|L	0.59436|0.59436	1.845|1.845	0.38537|0.38537	D|D	0.949124|0.949124	D;D|P	0.76494|0.38504	0.999;0.999|0.634	D;D|B	0.72075|0.36378	0.976;0.964|0.223	T|T	0.51694|0.51694	-0.8673|-0.8673	9|10	0.56958|0.62326	D|D	0.05|0.03	.|.	15.2346|15.2346	0.73419|0.73419	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	477;652|686	B4DH21;O60583-2|O60583	.;.|CCNT2_HUMAN	G|E	477;652;104|686	ENSP00000295238:E652G|ENSP00000264157:K686E	ENSP00000295238:E652G|ENSP00000264157:K686E	E|K	+|+	2|1	0|0	CCNT2|CCNT2	135428551|135428551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.576000|7.576000	0.82467|0.82467	2.005000|2.005000	0.58758|0.58758	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.507	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		4	42	0	0	0	1	0	4	42				
IRX3	79191	broad.mit.edu	37	16	54319369	54319369	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:54319369G>C	ENST00000329734.3	-	2	1136	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	142					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGCCTTCAGCGTGCTGGTG	0.637																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(424-426)Ctg>Gtg		iroquois homeobox 3							144.0	108.0	120.0					16																	54319369		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319369G>C	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.424C>G	16.37:g.54319369G>C	ENSP00000331608:p.Leu142Val						p.L142V	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1136	-			142					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.424C>G	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238776	0.58995	.	.	ENSG00000177508	ENST00000329734	D	0.95949	-3.86	4.14	4.14	0.48551	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.97679	0.9239	M	0.87682	2.9	0.52099	D	0.999944	D	0.69078	0.997	D	0.79108	0.992	D	0.98385	1.0560	10	0.87932	D	0	-11.9013	13.9388	0.64041	0.0:0.0:1.0:0.0	.	142	P78415	IRX3_HUMAN	V	142	ENSP00000331608:L142V	ENSP00000331608:L142V	L	-	1	2	IRX3	52876870	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.317000	0.59184	2.123000	0.65237	0.563000	0.77884	CTG		0.637	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			18	22	0	0	0	1	0	18	22				
AKAP13	11214	broad.mit.edu	37	15	86207816	86207816	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86207816G>A	ENST00000394518.2	+	13	4917	c.4822G>A	c.(4822-4824)Gga>Aga	p.G1608R	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1612R|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1608					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGCTTGACAGGAGGAGCTGG	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4822-4824)Gga>Aga		A kinase (PRKA) anchor protein 13							117.0	118.0	118.0					15																	86207816		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86207816G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4822G>A	15.37:g.86207816G>A	ENSP00000378026:p.Gly1608Arg					RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.G1612R|AKAP13_ENST00000560579.1_3'UTR	p.G1608R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			13	4917	+			1608					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4822G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720405	0.89205	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.17528	2.27;2.3	5.64	5.64	0.86602	.	.	.	.	.	T	0.43590	0.1254	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.20075	-1.0286	9	0.87932	D	0	.	19.0647	0.93106	0.0:0.0:1.0:0.0	.	1590;1608;1612	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	R	1612;1608;1611;1589;230	ENSP00000354718:G1612R;ENSP00000378026:G1608R	ENSP00000354718:G1612R	G	+	1	0	AKAP13	84008820	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.920000	0.56446	2.820000	0.97059	0.650000	0.86243	GGA		0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		19	67	0	0	0	1	0	19	67				
PTPRU	10076	broad.mit.edu	37	1	29618458	29618458	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29618458G>A	ENST00000345512.3	+	16	2555	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	PTPRU_ENST00000356870.3_Missense_Mutation_p.S799N|PTPRU_ENST00000323874.8_Missense_Mutation_p.S799N|PTPRU_ENST00000373779.3_Missense_Mutation_p.S799N|PTPRU_ENST00000460170.2_Missense_Mutation_p.S799N|PTPRU_ENST00000428026.2_Missense_Mutation_p.S799N|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	809	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTGGACCGCAGCTTCACAGAC	0.642																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2395-2397)aGc>aAc		protein tyrosine phosphatase, receptor type, U							82.0	71.0	74.0					1																	29618458		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29618458G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2426G>A	1.37:g.29618458G>A	ENSP00000334941:p.Ser809Asn					PTPRU_ENST00000460170.2_Missense_Mutation_p.S799N|PTPRU_ENST00000323874.8_Missense_Mutation_p.S799N|PTPRU_ENST00000345512.3_Missense_Mutation_p.S809N|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.S799N|PTPRU_ENST00000373779.3_Missense_Mutation_p.S799N	p.S799N	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	15	2506	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	809			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2396G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750287	0.89753	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.37058	1.31;1.27;1.27;1.27;1.22;1.27	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.66939	2.045	0.50813	D	0.999891	P;P;P;P;P	0.43352	0.804;0.799;0.804;0.698;0.704	P;P;P;B;B	0.45558	0.485;0.466;0.485;0.201;0.272	T	0.37731	-0.9693	9	.	.	.	.	15.8259	0.78706	0.0:0.0:1.0:0.0	.	799;799;799;799;809	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	N	809;799;799;799;799;799	ENSP00000334941:S809N;ENSP00000362884:S799N;ENSP00000349333:S799N;ENSP00000314987:S799N;ENSP00000392332:S799N;ENSP00000432906:S799N	.	S	+	2	0	PTPRU	29491045	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.451000	0.97610	2.477000	0.83638	0.655000	0.94253	AGC		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			20	25	0	0	0	1	0	20	25				
BRINP2	57795	broad.mit.edu	37	1	177250404	177250404	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250404C>T	ENST00000361539.4	+	8	2404	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	698					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGATGCTATCCGGGACTTAAT	0.502																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(2092-2094)Cgg>Tgg									107.0	110.0	109.0					1																	177250404		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177250404C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2092C>T	1.37:g.177250404C>T	ENSP00000354481:p.Arg698Trp					FAM5B_ENST00000478325.1_3'UTR	p.R698W	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2404	+			698					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2092C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200617	0.58126	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19394	2.15	5.26	4.34	0.51931	.	0.057278	0.64402	D	0.000003	T	0.43765	0.1262	M	0.61703	1.905	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.949	T	0.43245	-0.9403	10	0.87932	D	0	-27.0602	14.8767	0.70498	0.1449:0.8551:0.0:0.0	.	593;698	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	451;698	ENSP00000354481:R698W	ENSP00000354481:R698W	R	+	1	2	FAM5B	175517027	0.999000	0.42202	1.000000	0.80357	0.759000	0.43091	3.212000	0.51145	1.199000	0.43173	0.305000	0.20034	CGG		0.502	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		32	66	0	0	0	1	0	32	66				
ZNF876P	642280	broad.mit.edu	37	4	248113	248113	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:248113G>A	ENST00000356347.3	+	0	937					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATACACAGGAGCATTCATTCT	0.368																																						ENST00000356347.3																			0																																																			0							g.chr4:248113G>A	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.248113G>A								NR_027481.1						0	937	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.368	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		13	36	0	0	0	1	0	13	36				
NRCAM	4897	broad.mit.edu	37	7	107834557	107834557	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107834557C>T	ENST00000425651.2	-	14	1688	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	NRCAM_ENST00000379028.3_Silent_p.V563V|NRCAM_ENST00000413765.2_Silent_p.V544V|NRCAM_ENST00000379024.4_Silent_p.V544V|NRCAM_ENST00000379022.4_Silent_p.V563V|NRCAM_ENST00000351718.4_Silent_p.V557V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	563	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTCAAAGGACACCATGCTCC	0.453																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1687-1689)gtG>gtA		neuronal cell adhesion molecule							205.0	144.0	165.0					7																	107834557		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834557C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1689G>A	7.37:g.107834557C>T						NRCAM_ENST00000413765.2_Silent_p.V544V|NRCAM_ENST00000379022.4_Silent_p.V563V|NRCAM_ENST00000425651.2_Silent_p.V563V|NRCAM_ENST00000351718.4_Silent_p.V557V|NRCAM_ENST00000379024.4_Silent_p.V544V	p.V563V			Q92823	NRCAM_HUMAN			17	2159	-			563			Ig-like 6.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.1689G>A	CCDS47686.1																																																																																				0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		32	57	0	0	0	1	0	32	57				
PYGM	5837	broad.mit.edu	37	11	64519438	64519438	+	Nonsense_Mutation	SNP	G	G	A	rs119103255		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64519438G>A	ENST00000164139.3	-	14	2124	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.R488*|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	576					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGAGCTGTCGTTTATATTCG	0.522																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	GRCh37	CM981688	PYGM	M	rs119103255	c.(1726-1728)Cga>Tga		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						209.0	176.0	187.0					11																	64519438		2201	4297	6498	SO:0001587	stop_gained	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519438G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1726C>T	11.37:g.64519438G>A	ENSP00000164139:p.Arg576*					PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Nonsense_Mutation_p.R488*	p.R576*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			14	2124	-			576					A0AVK1|A6NDY6	Nonsense_Mutation	SNP	ENST00000164139.3	37	c.1726C>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	G	43	10.003539	0.99315	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	.	.	.	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3338	12.3182	0.54969	0.0:0.0:0.8311:0.1689	.	.	.	.	X	488;576;557	.	ENSP00000164139:R576X	R	-	1	2	PYGM	64276014	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.323000	0.52014	2.698000	0.92095	0.561000	0.74099	CGA		0.522	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		15	34	0	0	0	1	0	15	34				
XYLB	9942	broad.mit.edu	37	3	38408366	38408366	+	Splice_Site	SNP	T	T	C	rs149290		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38408366T>C	ENST00000207870.3	+	7	663		c.e7+2		XYLB_ENST00000542835.1_Splice_Site	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CATACGGAGGTTGGTTAAATG	0.363																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.e7+2		xylulokinase homolog (H. influenzae)							78.0	79.0	79.0					3																	38408366		2203	4300	6503	SO:0001630	splice_region_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38408366T>C	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.573+2T>C	3.37:g.38408366T>C						XYLB_ENST00000542835.1_Splice_Site		NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	7	663	+								B2RAW4|B4DDT2|B9EH64	Splice_Site	SNP	ENST00000207870.3	37		CCDS2678.1	.	.	.	.	.	.	.	.	.	.	t	19.18	3.778658	0.70107	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9986	0.58662	0.0:0.0:0.0:1.0	rs149290;rs531251;rs1149076	.	.	.	.	-1	.	.	.	+	.	.	XYLB	38383370	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	6.131000	0.71670	2.115000	0.64714	0.449000	0.29647	.		0.363	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	Intron	15	29	0	0	0	1	0	15	29				
PNN	5411	broad.mit.edu	37	14	39647050	39647050	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39647050G>A	ENST00000216832.4	+	6	495	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Silent_p.P111P	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	143	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTTAGGAACCGGCGAATATTT	0.343																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(427-429)cGg>cAg		pinin, desmosome associated protein							243.0	269.0	260.0					14																	39647050		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39647050G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.428G>A	14.37:g.39647050G>A	ENSP00000216832:p.Arg143Gln					PNN_ENST00000553331.1_Silent_p.P111P	p.R143Q	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	6	495	+	Hepatocellular(127;0.213)		143			Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.428G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	37	6.007649	0.97195	.	.	ENSG00000100941	ENST00000216832	T	0.54675	0.56	5.48	5.48	0.80851	Pinin/SDK/MemA protein (1);Pinin/SDK (1);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.70521	-0.4849	10	0.72032	D	0.01	-6.2935	19.7147	0.96110	0.0:0.0:1.0:0.0	.	143	Q9H307	PININ_HUMAN	Q	143	ENSP00000216832:R143Q	ENSP00000216832:R143Q	R	+	2	0	PNN	38716801	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.755000	0.98912	2.732000	0.93576	0.591000	0.81541	CGG		0.343	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		108	180	0	0	0	1	0	108	180				
WTIP	126374	broad.mit.edu	37	19	34984203	34984203	+	Silent	SNP	C	C	T	rs541381388		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34984203C>T	ENST00000590071.2	+	4	1210	c.873C>T	c.(871-873)agC>agT	p.S291S	WTIP_ENST00000270288.6_Silent_p.S515S	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	291	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACAAATGCAGCGTGTGTGGAC	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19446	0.0		0.0	False		,,,				2504	0.0					ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(871-873)agC>agT		Wilms tumor 1 interacting protein							35.0	38.0	37.0					19																	34984203		2089	4226	6315	SO:0001819	synonymous_variant	126374							g.chr19:34984203C>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.873C>T	19.37:g.34984203C>T						WTIP_ENST00000270288.6_Silent_p.S515S	p.S291S	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		4	1210	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Silent	SNP	ENST00000590071.2	37	c.873C>T	CCDS59375.1																																																																																				0.622	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		5	21	0	0	0	1	0	5	21				
STRAP	11171	broad.mit.edu	37	12	16055902	16055902	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16055902T>C	ENST00000419869.2	+	10	1356	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	STRAP_ENST00000025399.6_Missense_Mutation_p.V361A|STRAP_ENST00000538352.1_Missense_Mutation_p.V254A	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	348					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GCTCCTGATGTTAAGGCCTGA	0.348																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(1042-1044)gTt>gCt		serine/threonine kinase receptor associated protein							81.0	75.0	77.0					12																	16055902		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16055902T>C	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.1043T>C	12.37:g.16055902T>C	ENSP00000392270:p.Val348Ala					STRAP_ENST00000025399.6_Missense_Mutation_p.V361A|STRAP_ENST00000538352.1_Missense_Mutation_p.V254A	p.V348A	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			10	1356	+		Hepatocellular(102;0.121)	348					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.1043T>C	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995429	0.35226	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.63744	0.05;0.01;-0.06	4.8	4.8	0.61643	.	0.076315	0.52532	D	0.000061	T	0.42921	0.1224	N	0.08118	0	0.35828	D	0.8251	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.003	T	0.51568	-0.8689	10	0.59425	D	0.04	-19.956	13.0724	0.59070	0.0:0.0:0.0:1.0	.	361;348	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	A	254;361;348	ENSP00000439761:V254A;ENSP00000025399:V361A;ENSP00000392270:V348A	ENSP00000025399:V361A	V	+	2	0	STRAP	15947169	1.000000	0.71417	0.991000	0.47740	0.805000	0.45488	4.715000	0.61909	2.025000	0.59659	0.533000	0.62120	GTT		0.348	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		36	62	0	0	0	1	0	36	62				
IGHMBP2	3508	broad.mit.edu	37	11	68678939	68678939	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68678939C>T	ENST00000255078.3	+	5	690	c.579C>T	c.(577-579)gaC>gaT	p.D193D	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.H161Y	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	193					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCTGGACACCTCCCAGA	0.547																																						ENST00000539224.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(481-483)Cac>Tac		immunoglobulin mu binding protein 2							77.0	65.0	69.0					11																	68678939		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68678939C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.579C>T	11.37:g.68678939C>T						IGHMBP2_ENST00000255078.3_Silent_p.D193D	p.H161Y			P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	537	+			0					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.481C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	4.926	0.172120	0.09391	.	.	ENSG00000132740	ENST00000539224	T	0.64085	-0.08	4.93	-1.58	0.08479	.	.	.	.	.	T	0.61173	0.2326	.	.	.	0.22880	N	0.998619	.	.	.	.	.	.	T	0.58901	-0.7554	6	0.56958	D	0.05	-24.8877	11.2367	0.48944	0.0:0.4154:0.0:0.5846	.	.	.	.	Y	161	ENSP00000440465:H161Y	ENSP00000440465:H161Y	H	+	1	0	IGHMBP2	68435515	0.002000	0.14202	0.656000	0.29637	0.005000	0.04900	-0.053000	0.11846	-0.347000	0.08299	-1.670000	0.00746	CAC		0.547	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		10	15	0	0	0	1	0	10	15				
RGS12	6002	broad.mit.edu	37	4	3430395	3430395	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3430395T>C	ENST00000344733.5	+	16	4426	c.3522T>C	c.(3520-3522)atT>atC	p.I1174I	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Silent_p.I1174I|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Silent_p.I526I|RGS12_ENST00000382788.3_Silent_p.I1174I	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1174					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGCAAAGATTGGGAAAAAAA	0.333																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3520-3522)atT>atC		regulator of G-protein signaling 12							45.0	51.0	49.0					4																	3430395		2201	4300	6501	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430395T>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3522T>C	4.37:g.3430395T>C						RGS12_ENST00000344733.5_Silent_p.I1174I|RGS12_ENST00000382788.3_Silent_p.I1174I|RGS12_ENST00000338806.4_Silent_p.I526I|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000306648.7_Intron	p.I1174I	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4426	+			1174					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3522T>C	CCDS3366.1																																																																																				0.333	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		25	31	0	0	0	1	0	25	31				
CCDC60	160777	broad.mit.edu	37	12	119942901	119942901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:119942901C>T	ENST00000327554.2	+	7	1141	c.676C>T	c.(676-678)Cga>Tga	p.R226*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	226										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCCACAATGCGAGTCACCAA	0.517																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(676-678)Cga>Tga		coiled-coil domain containing 60							56.0	62.0	60.0					12																	119942901		2203	4300	6503	SO:0001587	stop_gained	160777							g.chr12:119942901C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.676C>T	12.37:g.119942901C>T	ENSP00000333374:p.Arg226*					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R226*	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1141	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		226						Nonsense_Mutation	SNP	ENST00000327554.2	37	c.676C>T	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	39	7.310390	0.98203	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.07	5.07	0.68467	.	0.000000	0.45867	D	0.000322	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7268	13.9816	0.64308	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	.	R	+	1	2	CCDC60	118427284	0.888000	0.30383	0.020000	0.16555	0.003000	0.03518	3.549000	0.53681	2.340000	0.79590	0.650000	0.86243	CGA		0.517	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		17	35	0	0	0	1	0	17	35				
DENND5A	23258	broad.mit.edu	37	11	9173944	9173944	+	Missense_Mutation	SNP	G	G	A	rs549657250	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9173944G>A	ENST00000328194.3	-	13	2802	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	DENND5A_ENST00000530044.1_Missense_Mutation_p.R828W|DENND5A_ENST00000527700.1_Missense_Mutation_p.R171W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	828	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTCTCTGCCGGTTGTCCTGA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2482-2484)Cgg>Tgg		DENN/MADD domain containing 5A							302.0	241.0	262.0					11																	9173944		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9173944G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2482C>T	11.37:g.9173944G>A	ENSP00000328524:p.Arg828Trp					DENND5A_ENST00000527700.1_Missense_Mutation_p.R171W|DENND5A_ENST00000530044.1_Missense_Mutation_p.R828W	p.R828W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			13	2802	-			828			RUN 1.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2482C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.273640|4.273640	0.80580|0.80580	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000524446|ENST00000328194;ENST00000530044;ENST00000527700	.|T;T;T	.|0.18502	.|3.69;3.68;2.21	5.32|5.32	3.26|3.26	0.37387|0.37387	.|RUN (2);	.|0.097634	.|0.64402	.|D	.|0.000002	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999976|0.999976	.|D;P	.|0.64830	.|0.994;0.931	.|P;P	.|0.58820	.|0.846;0.67	T|T	0.02844|0.02844	-1.1103|-1.1103	5|10	.|0.87932	.|D	.|0	.|.	12.1994|12.1994	0.54315|0.54315	0.0:0.0:0.4709:0.529|0.0:0.0:0.4709:0.529	.|.	.|828;828	.|E9PS91;Q6IQ26	.|.;DEN5A_HUMAN	L|W	4|828;828;171	.|ENSP00000328524:R828W;ENSP00000435866:R828W;ENSP00000432549:R171W	.|ENSP00000328524:R828W	P|R	-|-	2|1	0|2	DENND5A|DENND5A	9130520|9130520	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	3.599000|3.599000	0.54045|0.54045	1.335000|1.335000	0.45486|0.45486	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		40	59	0	0	0	1	0	40	59				
TMEM86A	144110	broad.mit.edu	37	11	18722575	18722575	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18722575C>T	ENST00000280734.2	+	2	213	c.117C>T	c.(115-117)agC>agT	p.S39S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	39						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CGTGGGTCAGCACCCTCATCA	0.592																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(115-117)agC>agT		transmembrane protein 86A							228.0	207.0	214.0					11																	18722575		2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18722575C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.117C>T	11.37:g.18722575C>T						TMEM86A_ENST00000527002.1_3'UTR	p.S39S	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			2	213	+			39					Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.117C>T	CCDS7844.1																																																																																				0.592	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		62	80	0	0	0	1	0	62	80				
CA4	762	broad.mit.edu	37	17	58235717	58235717	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58235717C>A	ENST00000300900.4	+	7	753	c.654C>A	c.(652-654)ttC>ttA	p.F218L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	218					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGCACTACTTCCGCTACCTGG	0.577																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(652-654)ttC>ttA		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						120.0	87.0	98.0					17																	58235717		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58235717C>A	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.654C>A	17.37:g.58235717C>A	ENSP00000300900:p.Phe218Leu						p.F218L	NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		7	753	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		218					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.654C>A	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413888	0.83449	.	.	ENSG00000167434	ENST00000300900	T	0.69806	-0.43	5.54	4.57	0.56435	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.226336	0.47093	D	0.000257	T	0.80428	0.4621	M	0.86651	2.83	0.47949	D	0.999552	D	0.76494	0.999	P	0.61658	0.892	T	0.82721	-0.0317	10	0.66056	D	0.02	.	10.2679	0.43466	0.0:0.9088:0.0:0.0912	.	218	P22748	CAH4_HUMAN	L	218	ENSP00000300900:F218L	ENSP00000300900:F218L	F	+	3	2	CA4	55590499	0.998000	0.40836	1.000000	0.80357	0.907000	0.53573	1.464000	0.35288	1.321000	0.45227	0.491000	0.48974	TTC		0.577	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		15	14	1	0	1.3612e-06	1	1.41782e-06	15	14				
MBTPS1	8720	broad.mit.edu	37	16	84129223	84129223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84129223C>T	ENST00000343411.3	-	4	1104	c.609G>A	c.(607-609)tgG>tgA	p.W203*	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	203					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCCCATCTGCCAGAGCACAT	0.567																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(607-609)tgG>tgA		membrane-bound transcription factor peptidase, site 1							86.0	70.0	75.0					16																	84129223		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84129223C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.609G>A	16.37:g.84129223C>T	ENSP00000344223:p.Trp203*						p.W203*	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			4	1104	-			203					A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.609G>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	43	9.931801	0.99298	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6313	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000344223:W203X	W	-	3	0	MBTPS1	82686724	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TGG		0.567	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	29	0	0	0	1	0	15	29				
ASNSD1	54529	broad.mit.edu	37	2	190532519	190532519	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190532519G>A	ENST00000260952.4	+	5	1907	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	ASNSD1_ENST00000607062.1_Silent_p.E17E	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	498	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTGCAGATGAGCAACTTGCAG	0.388																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1492-1494)gaG>gaA		asparagine synthetase domain containing 1							105.0	107.0	106.0					2																	190532519		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532519G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1494G>A	2.37:g.190532519G>A						ASNSD1_ENST00000607062.1_Silent_p.E17E	p.E498E	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		5	1907	+			498			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1494G>A	CCDS2300.1																																																																																				0.388	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		20	34	0	0	0	1	0	20	34				
PLEKHG4	25894	broad.mit.edu	37	16	67314108	67314108	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67314108G>A	ENST00000360461.5	+	1	2696	c.161G>A	c.(160-162)gGg>gAg	p.G54E	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G54E|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G54E|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G54E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	54							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCACCAGCCGGGGCCACCCAG	0.597																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(160-162)gGg>gAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							53.0	57.0	55.0					16																	67314108		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314108G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.161G>A	16.37:g.67314108G>A	ENSP00000353646:p.Gly54Glu					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G54E|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G54E|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G54E	p.G54E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2696	+			54					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.161G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479026	0.26511	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	T;T;T;T	0.46451	2.02;2.02;2.02;0.87	3.89	1.83	0.25207	.	.	.	.	.	T	0.51686	0.1689	M	0.64997	1.995	0.09310	N	1	D;B	0.76494	0.999;0.029	D;B	0.78314	0.991;0.026	T	0.43032	-0.9416	9	0.10636	T	0.68	.	6.3277	0.21253	0.2419:0.0:0.7581:0.0	.	54;54	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	E	54	ENSP00000353646:G54E;ENSP00000401118:G54E;ENSP00000368649:G54E;ENSP00000398030:G54E	ENSP00000353646:G54E	G	+	2	0	PLEKHG4	65871609	0.515000	0.26210	0.456000	0.27044	0.007000	0.05969	0.153000	0.16323	0.843000	0.35070	0.579000	0.79373	GGG		0.597	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		15	15	0	0	0	1	0	15	15				
LDLR	3949	broad.mit.edu	37	19	11221443	11221443	+	Silent	SNP	C	C	T	rs13306515	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11221443C>T	ENST00000558518.1	+	7	1243	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C	LDLR_ENST00000557933.1_Silent_p.C352C|LDLR_ENST00000535915.1_Silent_p.C311C|LDLR_ENST00000545707.1_Silent_p.C225C|LDLR_ENST00000558013.1_Silent_p.C352C|LDLR_ENST00000455727.2_Silent_p.C184C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	352	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> Y (in Mexico-2).		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGCGAAGATGCGAAGGTGATT	0.597													C|||	6	0.00119808	0.0	0.0	5008	,	,		16413	0.005		0.0	False		,,,				2504	0.001				GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CD995138|CM981187|CM990799	LDLR	D|M	rs13306515	c.(1054-1056)tgC>tgT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						87.0	79.0	82.0					19																	11221443		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11221443C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1056C>T	19.37:g.11221443C>T						LDLR_ENST00000545707.1_Silent_p.C225C|LDLR_ENST00000535915.1_Silent_p.C311C|LDLR_ENST00000455727.2_Silent_p.C184C|LDLR_ENST00000558013.1_Silent_p.C352C|LDLR_ENST00000557933.1_Silent_p.C352C	p.C352C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	7	1243	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	352		C -> Y (in Mexico-2).	EGF-like 1.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1056C>T	CCDS12254.1																																																																																				0.597	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			11	31	0	0	0	1	0	11	31				
C10orf120	399814	broad.mit.edu	37	10	124457684	124457684	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124457684G>A	ENST00000329446.4	-	3	604	c.573C>T	c.(571-573)cgC>cgT	p.R191R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	191										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GAAATGAGGAGCGTGTAAACC	0.488																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(571-573)cgC>cgT		chromosome 10 open reading frame 120							128.0	112.0	117.0					10																	124457684		2203	4300	6503	SO:0001819	synonymous_variant	399814							g.chr10:124457684G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.573C>T	10.37:g.124457684G>A							p.R191R	NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN			3	604	-		all_neural(114;0.169)|Glioma(114;0.222)	191					B2RU17	Silent	SNP	ENST00000329446.4	37	c.573C>T	CCDS31302.1																																																																																				0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		17	53	0	0	0	1	0	17	53				
GLDN	342035	broad.mit.edu	37	15	51696718	51696718	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51696718G>A	ENST00000335449.6	+	10	1479	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	GLDN_ENST00000396399.2_Missense_Mutation_p.A351T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	475	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A475T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGCTGGCAACGCCTTCATTGC	0.473																																						ENST00000335449.6																			1	Substitution - Missense(1)	p.A475T(1)	large_intestine(1)	central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1423-1425)Gcc>Acc		gliomedin							173.0	151.0	159.0					15																	51696718		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696718G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1423G>A	15.37:g.51696718G>A	ENSP00000335196:p.Ala475Thr					GLDN_ENST00000396399.2_Missense_Mutation_p.A351T	p.A475T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1479	+			475			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1423G>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	32	5.157675	0.94686	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.91843	-2.92;-2.92	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.96131	0.8739	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95923	0.8932	10	0.72032	D	0.01	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	475	Q6ZMI3	GLDN_HUMAN	T	475;351;351	ENSP00000335196:A475T;ENSP00000379681:A351T	ENSP00000335196:A475T	A	+	1	0	GLDN	49484010	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	GCC		0.473	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		35	61	0	0	0	1	0	35	61				
LAMP3	27074	broad.mit.edu	37	3	182870252	182870252	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182870252C>T	ENST00000265598.3	-	3	1054	c.799G>A	c.(799-801)Gca>Aca	p.A267T	LAMP3_ENST00000466939.1_Missense_Mutation_p.A243T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	267					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCTTGCGTTGCGTTGGGGTCG	0.453																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(799-801)Gca>Aca		lysosomal-associated membrane protein 3							199.0	209.0	205.0					3																	182870252		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870252C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.799G>A	3.37:g.182870252C>T	ENSP00000265598:p.Ala267Thr					LAMP3_ENST00000466939.1_Missense_Mutation_p.A243T	p.A267T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1054	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		267					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.799G>A	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	7.572	0.666873	0.14710	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33216	1.42;1.42	5.52	0.605	0.17553	.	0.937914	0.08906	N	0.876606	T	0.16854	0.0405	N	0.20685	0.6	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.30179	-0.9987	10	0.25751	T	0.34	-0.5055	4.9191	0.13860	0.0:0.5126:0.1513:0.3361	.	267	Q9UQV4	LAMP3_HUMAN	T	267;243	ENSP00000265598:A267T;ENSP00000418912:A243T	ENSP00000265598:A267T	A	-	1	0	LAMP3	184352946	0.000000	0.05858	0.005000	0.12908	0.460000	0.32559	-0.253000	0.08794	-0.102000	0.12197	-0.143000	0.13931	GCA		0.453	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			66	97	0	0	0	1	0	66	97				
CILP	8483	broad.mit.edu	37	15	65489526	65489526	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65489526C>T	ENST00000261883.4	-	9	3264	c.3098G>A	c.(3097-3099)tGc>tAc	p.C1033Y		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1033					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCTCGACGGCAGCTGCCCTG	0.577																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3097-3099)tGc>tAc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							119.0	76.0	91.0					15																	65489526		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489526C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3098G>A	15.37:g.65489526C>T	ENSP00000261883:p.Cys1033Tyr						p.C1033Y	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3264	-			1033					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3098G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327097	0.60743	.	.	ENSG00000138615	ENST00000261883	T	0.09163	3.01	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21518	-1.0243	10	0.87932	D	0	-7.8681	18.1542	0.89686	0.0:1.0:0.0:0.0	.	1033	O75339	CILP1_HUMAN	Y	1033	ENSP00000261883:C1033Y	ENSP00000261883:C1033Y	C	-	2	0	CILP	63276579	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.795000	0.85887	2.527000	0.85204	0.655000	0.94253	TGC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		17	28	0	0	0	1	0	17	28				
RELB	5971	broad.mit.edu	37	19	45515271	45515271	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45515271C>T	ENST00000221452.8	+	4	391	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	RELB_ENST00000540120.1_Missense_Mutation_p.R81C|RELB_ENST00000505236.1_Missense_Mutation_p.R78C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	81					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGGGCTGCCACGCCTGGTGTC	0.711																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(241-243)Cgc>Tgc		v-rel avian reticuloendotheliosis viral oncogene homolog B							7.0	8.0	8.0					19																	45515271		1773	3846	5619	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515271C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.241C>T	19.37:g.45515271C>T	ENSP00000221452:p.Arg81Cys					RELB_ENST00000540120.1_Missense_Mutation_p.R81C|RELB_ENST00000505236.1_Missense_Mutation_p.R78C	p.R81C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	391	+		Ovarian(192;0.0728)|all_neural(266;0.112)	81					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.241C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829676	0.32329	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.52754	0.66;0.66;0.65	4.21	3.18	0.36537	.	0.659663	0.12642	N	0.451245	T	0.29524	0.0736	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.04013	0.001	T	0.21484	-1.0244	10	0.87932	D	0	-16.3496	7.4306	0.27126	0.0:0.881:0.0:0.119	.	78	D6R992	.	C	81;81;78	ENSP00000221452:R81C;ENSP00000445542:R81C;ENSP00000423287:R78C	ENSP00000221452:R81C	R	+	1	0	RELB	50207111	0.859000	0.29813	0.070000	0.20053	0.095000	0.18619	0.986000	0.29590	0.984000	0.38629	0.462000	0.41574	CGC		0.711	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			4	9	0	0	0	1	0	4	9				
ANKRD44	91526	broad.mit.edu	37	2	197990131	197990131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197990131C>T	ENST00000328737.2	-	6	525	c.449G>A	c.(448-450)cGt>cAt	p.R150H	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R167H|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R150H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R103H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R150H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R175H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	175										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGCAGAGCACGCCGGTCCTT	0.423																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(448-450)cGt>cAt		ankyrin repeat domain 44							121.0	113.0	116.0					2																	197990131		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990131C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.449G>A	2.37:g.197990131C>T	ENSP00000331516:p.Arg150His					ANKRD44_ENST00000337207.5_Missense_Mutation_p.R150H|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R167H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R175H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R150H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R103H	p.R150H			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	525	-			175					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.449G>A		.	.	.	.	.	.	.	.	.	.	C	23.2	4.385257	0.82792	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T	0.22134	2.4;2.4;2.4;2.41;2.41;1.97;2.4	5.06	5.06	0.68205	.	0.067633	0.64402	D	0.000014	T	0.30541	0.0768	N	0.21508	0.67	0.58432	D	0.999999	B;D	0.76494	0.187;0.999	B;P	0.60068	0.071;0.868	T	0.03175	-1.1064	10	0.44086	T	0.13	.	18.6181	0.91310	0.0:1.0:0.0:0.0	.	103;175	F5H682;Q8N8A2-3	.;.	H	167;150;150;150;175;103;175	ENSP00000282272:R167H;ENSP00000331516:R150H;ENSP00000402420:R150H;ENSP00000338794:R150H;ENSP00000387141:R175H;ENSP00000437825:R103H;ENSP00000387233:R175H	ENSP00000282272:R167H	R	-	2	0	ANKRD44	197698376	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.743000	0.62110	2.612000	0.88384	0.655000	0.94253	CGT		0.423	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		29	34	0	0	0	1	0	29	34				
HERC2	8924	broad.mit.edu	37	15	28483299	28483299	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28483299C>T	ENST00000261609.7	-	25	3921	c.3813G>A	c.(3811-3813)cgG>cgA	p.R1271R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCATGGATTCCCGGGTGTCTT	0.493																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3811-3813)cgG>cgA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							71.0	69.0	70.0					15																	28483299		2203	4284	6487	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483299C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3813G>A	15.37:g.28483299C>T							p.R1271R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	25	3921	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1271			Cytochrome b5 heme-binding.			Silent	SNP	ENST00000261609.7	37	c.3813G>A	CCDS10021.1																																																																																				0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	50	0	0	0	1	0	29	50				
OR6K6	128371	broad.mit.edu	37	1	158725070	158725070	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158725070C>T	ENST00000368144.2	+	1	561	c.465C>T	c.(463-465)tgC>tgT	p.C155C		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TAGCTATCTGCAATCCACTCC	0.483																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(463-465)tgC>tgT		olfactory receptor, family 6, subfamily K, member 6							120.0	101.0	108.0					1																	158725070		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725070C>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.465C>T	1.37:g.158725070C>T							p.C155C	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	561	+	all_hematologic(112;0.0378)		155					B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.465C>T	CCDS30904.1																																																																																				0.483	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		22	41	0	0	0	1	0	22	41				
OR2B6	26212	broad.mit.edu	37	6	27925427	27925427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27925427C>T	ENST00000244623.1	+	1	409	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTATCATGCACCAGAGACT	0.498																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(409-411)Cac>Tac		olfactory receptor, family 2, subfamily B, member 6							102.0	103.0	103.0					6																	27925427		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925427C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.409C>T	6.37:g.27925427C>T	ENSP00000244623:p.His137Tyr						p.H137Y	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	409	+			137					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.409C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.511043	0.44660	.	.	ENSG00000124657	ENST00000244623	T	0.37235	1.21	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35646	U	0.003062	T	0.36690	0.0976	M	0.79475	2.455	0.32524	N	0.535879	P	0.50819	0.939	P	0.52598	0.703	T	0.39502	-0.9611	10	0.72032	D	0.01	.	9.1642	0.37041	0.2181:0.7819:0.0:0.0	.	137	P58173	OR2B6_HUMAN	Y	137	ENSP00000244623:H137Y	ENSP00000244623:H137Y	H	+	1	0	OR2B6	28033406	0.693000	0.27728	1.000000	0.80357	0.451000	0.32288	0.407000	0.21049	1.964000	0.57103	0.563000	0.77884	CAC		0.498	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			38	79	0	0	0	1	0	38	79				
IQGAP1	8826	broad.mit.edu	37	15	91009601	91009601	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91009601C>T	ENST00000268182.5	+	17	2092	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	IQGAP1_ENST00000560738.1_Silent_p.V84V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	656					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTATGGAGTCATCCCTGAGT	0.458																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1966-1968)gtC>gtT		IQ motif containing GTPase activating protein 1							134.0	107.0	116.0					15																	91009601		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91009601C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1968C>T	15.37:g.91009601C>T						IQGAP1_ENST00000560738.1_Silent_p.V84V	p.V656V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		17	2092	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		656					A7MBM3	Silent	SNP	ENST00000268182.5	37	c.1968C>T	CCDS10362.1																																																																																				0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		29	27	0	0	0	1	0	29	27				
INTS5	80789	broad.mit.edu	37	11	62417078	62417078	+	Silent	SNP	C	C	T	rs143580769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62417078C>T	ENST00000330574.2	-	2	526	c.474G>A	c.(472-474)acG>acA	p.T158T	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	158					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCCTGAGTACGTGCTGCTCA	0.562																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(472-474)acG>acA		integrator complex subunit 5		C		0,4404		0,0,2202	97.0	91.0	93.0		474	-4.3	1.0	11	dbSNP_134	93	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	INTS5	NM_030628.1		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		158/1020	62417078	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62417078C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.474G>A	11.37:g.62417078C>T							p.T158T	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	526	-			158					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.474G>A	CCDS8027.1																																																																																				0.562	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		19	23	0	0	0	1	0	19	23				
OBP2B	29989	broad.mit.edu	37	9	136081320	136081320	+	Silent	SNP	G	G	A	rs576469540		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136081320G>A	ENST00000372034.3	-	6	539	c.498C>T	c.(496-498)tgC>tgT	p.C166C	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	166					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTCGGGAACGCAGCTTCCTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17130	0.0		0.001	False		,,,				2504	0.0					ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(496-498)tgC>tgT		odorant binding protein 2B							188.0	172.0	177.0					9																	136081320		2203	4300	6503	SO:0001819	synonymous_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081320G>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.498C>T	9.37:g.136081320G>A						OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.C166C	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	6	539	-			166					Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	ENST00000372034.3	37	c.498C>T	CCDS6961.1																																																																																				0.622	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		5	103	0	0	0	1	0	5	103				
TTC23	64927	broad.mit.edu	37	15	99715278	99715278	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:99715278G>A	ENST00000394132.2	-	10	1659	c.842C>T	c.(841-843)gCt>gTt	p.A281V	TTC23_ENST00000394130.1_Missense_Mutation_p.A281V|TTC23_ENST00000394129.2_Missense_Mutation_p.A281V|TTC23_ENST00000558613.1_Missense_Mutation_p.A281V|TTC23_ENST00000394135.3_Missense_Mutation_p.A281V|TTC23_ENST00000558663.1_Missense_Mutation_p.A281V|TTC23_ENST00000262074.4_Missense_Mutation_p.A281V|TTC23_ENST00000394136.1_Missense_Mutation_p.A281V			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	281										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCTCCCTGAAGCGACAGCAGC	0.517																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(841-843)gCt>gTt		tetratricopeptide repeat domain 23							88.0	68.0	75.0					15																	99715278		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99715278G>A		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.842C>T	15.37:g.99715278G>A	ENSP00000377690:p.Ala281Val					TTC23_ENST00000394130.1_Missense_Mutation_p.A281V|TTC23_ENST00000558663.1_Missense_Mutation_p.A281V|TTC23_ENST00000394129.2_Missense_Mutation_p.A281V|TTC23_ENST00000394136.1_Missense_Mutation_p.A281V|TTC23_ENST00000394135.3_Missense_Mutation_p.A281V|TTC23_ENST00000262074.4_Missense_Mutation_p.A281V|TTC23_ENST00000558613.1_Missense_Mutation_p.A281V	p.A281V			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		10	1659	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		281					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.842C>T	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075920	0.36662	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.78481	-0.09;-0.09;-0.09;-0.09;-0.09;-1.18	6.07	5.16	0.70880	Tetratricopeptide-like helical (1);	0.437153	0.23139	N	0.051489	T	0.74772	0.3760	M	0.69823	2.125	0.09310	N	0.999999	B;B	0.29508	0.033;0.246	B;B	0.29942	0.027;0.109	T	0.63862	-0.6541	10	0.26408	T	0.33	-0.0122	11.2011	0.48741	0.0834:0.0:0.9166:0.0	.	281;281	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	V	281	ENSP00000377690:A281V;ENSP00000377693:A281V;ENSP00000262074:A281V;ENSP00000377692:A281V;ENSP00000377688:A281V;ENSP00000457901:A281V	ENSP00000262074:A281V	A	-	2	0	TTC23	97532801	0.064000	0.20934	0.115000	0.21578	0.190000	0.23558	2.434000	0.44802	1.584000	0.49913	0.655000	0.94253	GCT		0.517	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		11	18	0	0	0	1	0	11	18				
GAB2	9846	broad.mit.edu	37	11	77961318	77961318	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77961318G>A	ENST00000361507.4	-	3	590	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	GAB2_ENST00000340149.2_Silent_p.L131L|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	169					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AACGTGAACAGAGTTGGCTGG	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(505-507)Ctg>Ttg		GRB2-associated binding protein 2							169.0	159.0	163.0					11																	77961318		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961318G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.505C>T	11.37:g.77961318G>A						GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Silent_p.L131L	p.L169L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	590	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		169					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.505C>T	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		32	62	0	0	0	1	0	32	62				
PXDN	7837	broad.mit.edu	37	2	1670057	1670057	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1670057C>A	ENST00000252804.4	-	10	1270	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	407	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATACTCTCCGCTGTCCCCCTG	0.587																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1219-1221)aGc>aTc		peroxidasin homolog (Drosophila)							65.0	70.0	68.0					2																	1670057		2148	4253	6401	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1670057C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1220G>T	2.37:g.1670057C>A	ENSP00000252804:p.Ser407Ile					PXDN_ENST00000483018.1_5'UTR	p.S407I	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	10	1270	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	407			Ig-like C2-type 2.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1220G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.773075|1.773075	0.31411|0.31411	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.32753	.|1.44	4.57|4.57	4.57|4.57	0.56435|0.56435	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.054372	.|0.85682	.|D	.|0.000000	T|T	0.48874|0.48874	0.1524|0.1524	M|M	0.82132|0.82132	2.575|2.575	0.46654|0.46654	D|D	0.999149|0.999149	.|P;P	.|0.40000	.|0.698;0.619	.|P;P	.|0.49140	.|0.465;0.601	T|T	0.52689|0.52689	-0.8542|-0.8542	5|10	.|0.48119	.|T	.|0.1	-23.9479|-23.9479	15.7097|15.7097	0.77615|0.77615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|407;407	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	S|I	403|407	.|ENSP00000252804:S407I	.|ENSP00000252804:S407I	A|S	-|-	1|2	0|0	PXDN|PXDN	1649064|1649064	0.993000|0.993000	0.37304|0.37304	0.648000|0.648000	0.29521|0.29521	0.003000|0.003000	0.03518|0.03518	3.064000|3.064000	0.49986|0.49986	2.362000|2.362000	0.80069|0.80069	0.655000|0.655000	0.94253|0.94253	GCG|AGC		0.587	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		8	32	1	0	1.26484e-09	1	1.34508e-09	8	32				
MBOAT1	154141	broad.mit.edu	37	6	20124743	20124743	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:20124743A>G	ENST00000324607.7	-	8	967	c.803T>C	c.(802-804)gTg>gCg	p.V268A	MBOAT1_ENST00000541730.1_Missense_Mutation_p.V119A	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	268					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCAGTCATCCACAAGGCAGGT	0.468																																						ENST00000541730.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(355-357)gTg>gCg		membrane bound O-acyltransferase domain containing 1							179.0	155.0	163.0					6																	20124743		2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20124743A>G	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.803T>C	6.37:g.20124743A>G	ENSP00000324944:p.Val268Ala					MBOAT1_ENST00000324607.7_Missense_Mutation_p.V268A	p.V119A			Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		7	951	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		268					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.356T>C	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252450	0.22880	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.39229	1.09;1.09	5.48	-1.24	0.09435	.	0.509330	0.21680	N	0.070732	T	0.11067	0.0270	L	0.37750	1.13	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.15484	0.012;0.013	T	0.14952	-1.0454	10	0.19590	T	0.45	-9.7257	6.558	0.22471	0.6519:0.1177:0.2304:0.0	.	119;268	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	A	119;268	ENSP00000441568:V119A;ENSP00000324944:V268A	ENSP00000324944:V268A	V	-	2	0	MBOAT1	20232722	0.001000	0.12720	0.008000	0.14137	0.377000	0.30045	1.255000	0.32909	-0.351000	0.08249	0.459000	0.35465	GTG		0.468	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			29	66	0	0	0	1	0	29	66				
ATP9A	10079	broad.mit.edu	37	20	50241791	50241791	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50241791C>A	ENST00000338821.5	-	18	2220	c.1956G>T	c.(1954-1956)gaG>gaT	p.E652D	ATP9A_ENST00000402822.1_Missense_Mutation_p.E531D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E516D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	652					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCTGGTCCTCCACGCCCG	0.647																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1954-1956)gaG>gaT		ATPase, class II, type 9A							102.0	84.0	90.0					20																	50241791		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50241791C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1956G>T	20.37:g.50241791C>A	ENSP00000342481:p.Glu652Asp					ATP9A_ENST00000402822.1_Missense_Mutation_p.E531D|ATP9A_ENST00000311637.5_Missense_Mutation_p.E516D	p.E652D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			18	2220	-			652					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1956G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972738	0.74246	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.96011	-3.88;-3.88;-3.88	4.94	1.53	0.23141	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.953;1.0	D	0.96689	0.9509	10	0.87932	D	0	-37.7891	7.5522	0.27804	0.0:0.5301:0.0:0.4699	.	531;652	O75110-2;O75110	.;ATP9A_HUMAN	D	516;652;531	ENSP00000309086:E516D;ENSP00000342481:E652D;ENSP00000385875:E531D	ENSP00000309086:E516D	E	-	3	2	ATP9A	49675198	0.999000	0.42202	1.000000	0.80357	0.948000	0.59901	0.610000	0.24253	0.500000	0.27991	0.555000	0.69702	GAG		0.647	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	10	1	0	4.3838e-07	1	4.58243e-07	11	10				
SLIT2	9353	broad.mit.edu	37	4	20597356	20597356	+	Silent	SNP	C	C	T	rs372434910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20597356C>T	ENST00000504154.1	+	31	3471	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_ENST00000503837.1_Silent_p.C1069C|SLIT2_ENST00000273739.5_Silent_p.C1086C|SLIT2_ENST00000503823.1_Silent_p.C1065C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1073	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3217-3219)tgC>tgT		slit homolog 2 (Drosophila)		T		0,4406		0,0,2203	220.0	203.0	209.0		3219	-1.4	1.0	4		209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT2	NM_004787.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1073/1530	20597356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597356C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3219C>T	4.37:g.20597356C>T						SLIT2_ENST00000503837.1_Silent_p.C1069C|SLIT2_ENST00000503823.1_Silent_p.C1065C|SLIT2_ENST00000273739.5_Silent_p.C1086C	p.C1073C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3471	+			1073			EGF-like 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3219C>T	CCDS3426.1																																																																																				0.463	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	96	0	0	0	1	0	6	96				
PTPRN	5798	broad.mit.edu	37	2	220164504	220164504	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220164504G>T	ENST00000295718.2	-	10	1681	c.1441C>A	c.(1441-1443)Ctg>Atg	p.L481M	PTPRN_ENST00000423636.2_Missense_Mutation_p.L391M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	481					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGGCTCAGGGGCCTGGAG	0.577																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1441-1443)Ctg>Atg		protein tyrosine phosphatase, receptor type, N							46.0	44.0	44.0					2																	220164504		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164504G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1441C>A	2.37:g.220164504G>T	ENSP00000295718:p.Leu481Met					PTPRN_ENST00000423636.2_Missense_Mutation_p.L391M|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Intron	p.L481M	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	10	1681	-		Renal(207;0.0474)	481					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1441C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595661	0.66219	.	.	ENSG00000054356	ENST00000295718;ENST00000537666	T;T	0.04360	3.65;3.64	5.49	2.72	0.32119	.	0.117195	0.33419	N	0.004933	T	0.15869	0.0382	M	0.69823	2.125	0.36973	D	0.893902	D	0.71674	0.998	D	0.75484	0.986	T	0.02156	-1.1204	10	0.62326	D	0.03	.	7.4701	0.27344	0.2027:0.1215:0.6758:0.0	.	481	Q16849	PTPRN_HUMAN	M	481;391	ENSP00000295718:L481M;ENSP00000444244:L391M	ENSP00000295718:L481M	L	-	1	2	PTPRN	219872748	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.332000	0.43903	0.697000	0.31718	-0.225000	0.12378	CTG		0.577	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			20	27	1	0	2.94398e-08	1	3.10271e-08	20	27				
TIMM44	10469	broad.mit.edu	37	19	7992563	7992563	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7992563G>A	ENST00000270538.3	-	12	1486	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	TIMM44_ENST00000598968.1_5'UTR|CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	406					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCACCACCTCGCCTTTGGGGT	0.637																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(1216-1218)ggC>ggT		translocase of inner mitochondrial membrane 44 homolog (yeast)							147.0	117.0	127.0					19																	7992563		2203	4300	6503	SO:0001819	synonymous_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992563G>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1218C>T	19.37:g.7992563G>A						TIMM44_ENST00000598968.1_5'UTR	p.G406G	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			12	1486	-			406					A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	c.1218C>T	CCDS12192.1																																																																																				0.637	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			28	33	0	0	0	1	0	28	33				
OR13D1	286365	broad.mit.edu	37	9	107457453	107457453	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107457453G>A	ENST00000318763.5	+	1	794	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CATCTCCTATGTGTTTATTCT	0.368																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(751-753)Gtg>Atg		olfactory receptor, family 13, subfamily D, member 1							156.0	151.0	153.0					9																	107457453		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457453G>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.751G>A	9.37:g.107457453G>A	ENSP00000317357:p.Val251Met						p.V251M	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	794	+			251					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.751G>A	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	G	2.339	-0.351599	0.05173	.	.	ENSG00000179055	ENST00000318763	T	0.00265	8.39	3.87	-1.67	0.08238	GPCR, rhodopsin-like superfamily (1);	0.528419	0.14006	U	0.347809	T	0.00210	0.0006	L	0.53780	1.695	0.09310	N	1	B	0.33477	0.413	B	0.37387	0.248	T	0.17837	-1.0356	10	0.37606	T	0.19	.	10.3273	0.43801	0.4517:0.0:0.5483:0.0	.	251	Q8NGV5	O13D1_HUMAN	M	251	ENSP00000317357:V251M	ENSP00000317357:V251M	V	+	1	0	OR13D1	106497274	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-0.366000	0.07563	-0.589000	0.05874	-1.203000	0.01651	GTG		0.368	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			40	46	0	0	0	1	0	40	46				
SUV420H1	51111	broad.mit.edu	37	11	67941332	67941332	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67941332A>C	ENST00000304363.4	-	6	945	c.592T>G	c.(592-594)Ttg>Gtg	p.L198V	SUV420H1_ENST00000401547.2_Missense_Mutation_p.L198V|SUV420H1_ENST00000405515.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000402185.2_Missense_Mutation_p.L175V|SUV420H1_ENST00000402789.1_Missense_Mutation_p.L198V	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	198	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTACATGGCAATATTTCAAAT	0.294																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(592-594)Ttg>Gtg		suppressor of variegation 4-20 homolog 1 (Drosophila)							104.0	97.0	99.0					11																	67941332		2199	4293	6492	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941332A>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.592T>G	11.37:g.67941332A>C	ENSP00000305899:p.Leu198Val					SUV420H1_ENST00000402185.2_Missense_Mutation_p.L175V|SUV420H1_ENST00000405515.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000402789.1_Missense_Mutation_p.L198V|SUV420H1_ENST00000401547.2_Missense_Mutation_p.L198V	p.L198V	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	945	-			198			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.592T>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050604	0.55218	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	T;T;T;T;T;D	0.86230	0.96;0.96;0.96;0.96;0.96;-2.09	5.33	-7.05	0.01573	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.20483	0.58	0.54753	D	0.999986	B;B;D;D	0.67145	0.009;0.127;0.996;0.963	B;B;D;P	0.75484	0.008;0.173;0.986;0.805	D	0.84150	0.0422	10	0.42905	T	0.14	-13.7243	20.0902	0.97815	0.2324:0.0:0.7676:0.0	.	175;198;198;198	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	V	198;198;198;198;175;26	ENSP00000305899:L198V;ENSP00000385965:L198V;ENSP00000385640:L198V;ENSP00000385005:L198V;ENSP00000384724:L175V;ENSP00000433589:L26V	ENSP00000305899:L198V	L	-	1	2	SUV420H1	67697908	0.619000	0.27059	0.661000	0.29709	0.996000	0.88848	-0.015000	0.12634	-1.241000	0.02526	0.482000	0.46254	TTG		0.294	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		6	114	0	0	0	1	0	6	114				
IPO5	3843	broad.mit.edu	37	13	98658505	98658505	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98658505A>G	ENST00000490680.1	+	14	1684	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	IPO5_ENST00000261574.5_Missense_Mutation_p.H558R|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.H415R			O00410	IPO5_HUMAN	importin 5	540					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCACTGAAGCACATCGTTGAG	0.393																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1672-1674)cAc>cGc		importin 5							109.0	105.0	107.0					13																	98658505		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658505A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1619A>G	13.37:g.98658505A>G	ENSP00000418393:p.His540Arg					IPO5_ENST00000539640.1_Missense_Mutation_p.H415R|IPO5_ENST00000490680.1_Missense_Mutation_p.H540R|IPO5_ENST00000493492.2_3'UTR	p.H558R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1853	+			540					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1673A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.600756|4.600756	0.87055|0.87055	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;-0.28|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56426|0.56426	0.1984|0.1984	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.967;0.982;0.989|.	P;P;P|.	0.59115|.	0.714;0.714;0.852|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|5	0.32370|.	T|.	0.25|.	-7.1365|-7.1365	15.1685|15.1685	0.72850|0.72850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	415;540;558|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	R|A	558;540;540;415|542	ENSP00000261574:H558R;ENSP00000350219:H540R;ENSP00000418393:H540R;ENSP00000445126:H415R|.	ENSP00000261574:H558R|.	H|T	+|+	2|1	0|0	IPO5|IPO5	97456506|97456506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.191000|9.191000	0.94940|0.94940	2.042000|2.042000	0.60477|0.60477	0.377000|0.377000	0.23210|0.23210	CAC|ACA		0.393	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	88	0	0	0	1	0	4	88				
USP19	10869	broad.mit.edu	37	3	49153358	49153358	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49153358C>A	ENST00000398888.2	-	10	1500	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	USP19_ENST00000398892.3_Missense_Mutation_p.K434N|USP19_ENST00000417901.1_Missense_Mutation_p.K497N|USP19_ENST00000398898.2_Missense_Mutation_p.K434N|USP19_ENST00000434032.2_Missense_Mutation_p.K495N|USP19_ENST00000398896.1_Missense_Mutation_p.K202N|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Missense_Mutation_p.K485N	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	394					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACGGCAACCTTTGCACCAC	0.617																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1453-1455)aaG>aaT		ubiquitin specific peptidase 19							46.0	49.0	48.0					3																	49153358		2009	4171	6180	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153358C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1182G>T	3.37:g.49153358C>A	ENSP00000381863:p.Lys394Asn					USP19_ENST00000434032.2_Missense_Mutation_p.K495N|USP19_ENST00000417901.1_Missense_Mutation_p.K497N|USP19_ENST00000398892.3_Missense_Mutation_p.K434N|USP19_ENST00000398888.2_Missense_Mutation_p.K394N|USP19_ENST00000398896.1_Missense_Mutation_p.K202N|USP19_ENST00000398898.2_Missense_Mutation_p.K434N	p.K485N	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1773	-			394					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1455G>T	CCDS43090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.20|19.20	3.781298|3.781298	0.70222|0.70222	.|.	.|.	ENSG00000172046|ENSG00000172046	ENST00000425298|ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	.|T;T;T;T;T;T;T;T	.|0.46819	.|1.97;1.91;2.01;1.91;1.89;2.0;1.9;0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Domain of unknown function DUF1872 (1);HSP20-like chaperone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67173|0.67173	0.2865|0.2865	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.993;0.999;0.999;0.999;0.998;0.992;0.976	T|T	0.62393|0.62393	-0.6864|-0.6864	6|10	0.87932|0.48119	D|T	0|0.1	-31.6666|-31.6666	20.4745|20.4745	0.99168|0.99168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|560;495;485;394;434;480;202	.|A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.|.;.;.;UBP19_HUMAN;.;.;.	C|N	482|202;434;497;485;434;394;495;482	.|ENSP00000381870:K202N;ENSP00000381872:K434N;ENSP00000395260:K497N;ENSP00000400090:K485N;ENSP00000381867:K434N;ENSP00000381863:K394N;ENSP00000401197:K495N;ENSP00000303503:K482N	ENSP00000412679:G482C|ENSP00000303503:K482N	G|K	-|-	1|3	0|2	USP19|USP19	49128362|49128362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.644000|5.644000	0.67902|0.67902	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.617	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		17	30	1	0	2.94398e-08	1	3.10271e-08	17	30				
ZCCHC11	23318	broad.mit.edu	37	1	52940596	52940596	+	Missense_Mutation	SNP	T	T	C	rs200887652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:52940596T>C	ENST00000371544.3	-	13	2897	c.2635A>G	c.(2635-2637)Aca>Gca	p.T879A	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T879A|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	879					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCATCTTCTGTAGCTTTGCAG	0.403																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2635-2637)Aca>Gca		zinc finger, CCHC domain containing 11							89.0	82.0	84.0					1																	52940596		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940596T>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2635A>G	1.37:g.52940596T>C	ENSP00000360599:p.Thr879Ala					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T879A|ZCCHC11_ENST00000371541.1_5'UTR	p.T879A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2897	-			879					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2635A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	2.915	-0.224504	0.06061	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.43688	0.95;0.96;0.96;0.94	5.49	1.69	0.24217	.	0.717813	0.14011	N	0.347445	T	0.19846	0.0477	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.04013	0.001;0.001	T	0.07693	-1.0759	10	0.10902	T	0.67	.	5.7014	0.17885	0.0:0.1405:0.3114:0.5481	.	638;879	E9PKX1;Q5TAX3	.;TUT4_HUMAN	A	879;879;808;638	ENSP00000257177:T879A;ENSP00000360599:T879A;ENSP00000433486:T808A;ENSP00000435256:T638A	ENSP00000257177:T879A	T	-	1	0	ZCCHC11	52713184	0.980000	0.34600	0.999000	0.59377	0.990000	0.78478	0.072000	0.14617	0.871000	0.35750	0.455000	0.32223	ACA		0.403	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		26	62	0	0	0	1	0	26	62				
NEURL1	9148	broad.mit.edu	37	10	105331341	105331341	+	Silent	SNP	G	G	A	rs553526126		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105331341G>A	ENST00000369780.4	+	3	820	c.411G>A	c.(409-411)tcG>tcA	p.S137S	NEURL_ENST00000369777.2_Silent_p.S120S	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		137	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCCTGACTCGCTGCCCAAGT	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16078	0.0		0.0	False		,,,				2504	0.0					ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(409-411)tcG>tcA									62.0	50.0	54.0					10																	105331341		2203	4300	6503	SO:0001819	synonymous_variant	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331341G>A																												ENST00000369780.4:c.411G>A	10.37:g.105331341G>A						NEURL_ENST00000369777.2_Silent_p.S120S	p.S137S	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	820	+			137			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.411G>A	CCDS7551.1																																																																																				0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			8	9	0	0	0	1	0	8	9				
ADRA2B	151	broad.mit.edu	37	2	96781468	96781468	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96781468C>T	ENST00000409345.3	-	1	516	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	141					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGATGACGGCGGCGATGAGC	0.682																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(421-423)Gcc>Acc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						28.0	35.0	33.0					2																	96781468		2195	4291	6486	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781468C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.421G>A	2.37:g.96781468C>T	ENSP00000387281:p.Ala141Thr						p.A141T	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	516	-			141					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.421G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633613	0.67015	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64670	0.2619	M	0.86502	2.82	0.51767	D	0.999931	D	0.89917	1.0	D	0.75484	0.986	T	0.72047	-0.4408	9	0.87932	D	0	.	15.137	0.72576	0.0:1.0:0.0:0.0	.	141	P18089	ADA2B_HUMAN	T	141	ENSP00000387281:A141T	ENSP00000387281:A141T	A	-	1	0	ADRA2B	96145195	1.000000	0.71417	0.245000	0.24217	0.564000	0.35744	4.621000	0.61233	2.420000	0.82092	0.456000	0.33151	GCC		0.682	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			8	14	0	0	0	1	0	8	14				
F2	2147	broad.mit.edu	37	11	46744817	46744817	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46744817G>A	ENST00000311907.5	+	5	460	c.404G>A	c.(403-405)cGc>cAc	p.R135H	F2_ENST00000530231.1_Missense_Mutation_p.R135H	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	135	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.R135H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TGGAGGAGTCGCTACCCACAT	0.602																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			1	Substitution - Missense(1)	p.R135H(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(403-405)cGc>cAc		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						104.0	97.0	99.0					11																	46744817		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46744817G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.404G>A	11.37:g.46744817G>A	ENSP00000308541:p.Arg135His					F2_ENST00000530231.1_Missense_Mutation_p.R135H	p.R135H	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	5	460	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	135			Kringle 1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.404G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414447	0.62511	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.66995	-0.24;-0.24;-0.24	5.33	4.42	0.53409	Kringle (5);Kringle-like fold (1);	0.315831	0.39020	N	0.001494	T	0.66742	0.2820	L	0.35723	1.085	0.28709	N	0.903676	D	0.69078	0.997	P	0.58873	0.847	T	0.62973	-0.6740	10	0.87932	D	0	.	6.5769	0.22571	0.3099:0.0:0.6901:0.0	.	135	P00734	THRB_HUMAN	H	135;135;125	ENSP00000308541:R135H;ENSP00000433907:R135H;ENSP00000387413:R125H	ENSP00000308541:R135H	R	+	2	0	F2	46701393	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.848000	0.48278	1.258000	0.44101	-0.350000	0.07774	CGC		0.602	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			40	40	0	0	0	1	0	40	40				
DNMT3A	1788	broad.mit.edu	37	2	25468929	25468929	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:25468929C>T	ENST00000264709.3	-	12	1771	c.1434G>A	c.(1432-1434)cgG>cgA	p.R478R	DNMT3A_ENST00000321117.5_Silent_p.R478R|DNMT3A_ENST00000402667.1_Silent_p.R255R|DNMT3A_ENST00000380746.4_Silent_p.R289R|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	478					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACACCAGCCGCTCTGCAA	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1432-1434)cgG>cgA		DNA (cytosine-5-)-methyltransferase 3 alpha							97.0	82.0	87.0					2																	25468929		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468929C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1434G>A	2.37:g.25468929C>T						DNMT3A_ENST00000321117.5_Silent_p.R478R|DNMT3A_ENST00000402667.1_Silent_p.R255R|DNMT3A_ENST00000380746.4_Silent_p.R289R	p.R478R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			12	1771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		478					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1434G>A	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	41	0	0	0	1	0	7	41				
MPC1	51660	broad.mit.edu	37	6	166780295	166780295	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166780295G>A	ENST00000360961.6	-	3	281	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Missense_Mutation_p.R54W	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	54					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										AATGTCATCCGCCCACTGATA	0.433																																						ENST00000360961.6																			0											c.(160-162)Cgg>Tgg		mitochondrial pyruvate carrier 1							133.0	138.0	137.0					6																	166780295		2203	4300	6503	SO:0001583	missense	51660							g.chr6:166780295G>A	AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.160C>T	6.37:g.166780295G>A	ENSP00000354223:p.Arg54Trp					MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Missense_Mutation_p.R54W	p.R54W	NM_016098.2	NP_057182.1					3	281	-								B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	ENST00000360961.6	37	c.160C>T	CCDS5293.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759396	0.49468	.	.	ENSG00000060762	ENST00000360961;ENST00000341756;ENST00000392123	T;T	0.72942	-0.7;-0.7	5.69	3.68	0.42216	.	0.059473	0.64402	D	0.000003	T	0.62196	0.2408	M	0.83118	2.625	0.58432	D	0.999998	B	0.26845	0.161	B	0.30179	0.112	T	0.69491	-0.5131	10	0.62326	D	0.03	-8.8814	11.6422	0.51240	0.0:0.1264:0.7288:0.1448	.	54	Q9Y5U8	BR44L_HUMAN	W	54;54;11	ENSP00000354223:R54W;ENSP00000340784:R54W	ENSP00000340784:R54W	R	-	1	2	BRP44L	166700285	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.026000	0.49689	1.356000	0.45884	0.655000	0.94253	CGG		0.433	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098		33	60	0	0	0	1	0	33	60				
ZYX	7791	broad.mit.edu	37	7	143085619	143085619	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143085619G>A	ENST00000322764.5	+	7	1527	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	ZYX_ENST00000449423.2_Silent_p.A307A|ZYX_ENST00000392910.2_Silent_p.A237A|EPHA1_ENST00000458129.1_5'Flank	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	394	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGCCCGGGCGCAGCCAGCCG	0.617																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1180-1182)gcG>gcA		zyxin							43.0	53.0	50.0					7																	143085619		2203	4299	6502	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085619G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1182G>A	7.37:g.143085619G>A						ZYX_ENST00000392910.2_Silent_p.A237A|ZYX_ENST00000449423.2_Silent_p.A307A	p.A394A	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			7	1527	+	Melanoma(164;0.205)		394			LIM zinc-binding 1.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1182G>A	CCDS5883.1																																																																																				0.617	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		21	20	0	0	0	1	0	21	20				
LRRC16A	55604	broad.mit.edu	37	6	25606390	25606390	+	Missense_Mutation	SNP	C	C	T	rs368129452		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25606390C>T	ENST00000329474.6	+	35	4104	c.3736C>T	c.(3736-3738)Cgg>Tgg	p.R1246W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1246	Poly-Ser.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCAGGTCTCGGAGCTCATC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16552	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3736-3738)Cgg>Tgg		leucine rich repeat containing 16A							56.0	66.0	63.0					6																	25606390		1930	4148	6078	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606390C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3736C>T	6.37:g.25606390C>T	ENSP00000331983:p.Arg1246Trp						p.R1246W	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			35	4104	+			1246			Poly-Ser.		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3736C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757108	0.69648	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17528	2.27	5.85	4.98	0.66077	.	0.134134	0.48286	N	0.000194	T	0.22282	0.0537	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66847	0.947;0.895;0.893	T	0.02173	-1.1201	10	0.54805	T	0.06	-9.3541	9.0951	0.36634	0.2392:0.6893:0.0:0.0715	.	1246;1240;1201	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	1246;1201	ENSP00000331983:R1246W	ENSP00000331983:R1246W	R	+	1	2	LRRC16A	25714369	0.265000	0.24102	0.843000	0.33291	0.913000	0.54294	0.649000	0.24843	1.469000	0.48083	0.655000	0.94253	CGG		0.587	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	15	0	0	0	1	0	8	15				
PPP2R1B	5519	broad.mit.edu	37	11	111625257	111625257	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111625257G>A	ENST00000527614.1	-	8	1060	c.995C>T	c.(994-996)aCc>aTc	p.T332I	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.T332I|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.T268I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.T332I|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.T171I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.T205I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	332					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATAATTATGGTCTCTCTATC	0.313																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(994-996)aCc>aTc		protein phosphatase 2, regulatory subunit A, beta							87.0	90.0	89.0					11																	111625257		2200	4294	6494	SO:0001583	missense	5519						protein binding	g.chr11:111625257G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.995C>T	11.37:g.111625257G>A	ENSP00000437193:p.Thr332Ile					PPP2R1B_ENST00000427203.2_Missense_Mutation_p.T171I|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.T332I|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.T268I|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.T205I|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.T332I	p.T332I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	8	1060	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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)	332					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.995C>T	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810906	0.50421	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.273074	0.39146	N	0.001447	T	0.41926	0.1180	L	0.55481	1.735	0.46241	D	0.998944	P;B;B;P;B;P	0.35684	0.515;0.003;0.022;0.515;0.004;0.496	B;B;B;B;B;B	0.44108	0.175;0.062;0.058;0.441;0.017;0.187	T	0.19976	-1.0289	10	0.66056	D	0.02	-4.5657	17.9326	0.89002	0.0:0.0:1.0:0.0	.	205;332;171;268;332;332	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	I	332;205;268;332;171;332;205	ENSP00000311344:T332I;ENSP00000410671:T268I;ENSP00000437193:T332I;ENSP00000415759:T171I;ENSP00000343317:T332I;ENSP00000376775:T205I	ENSP00000311344:T332I	T	-	2	0	PPP2R1B	111130467	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.709000	0.47160	2.836000	0.97738	0.655000	0.94253	ACC		0.313	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		11	24	0	0	0	1	0	11	24				
TLR7	51284	broad.mit.edu	37	X	12904067	12904067	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(439-441)cCg>cTg		toll-like receptor 7	Imiquimod(DB00724)						55.0	56.0	56.0					X																	12904067		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904067C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.440C>T	X.37:g.12904067C>T	ENSP00000370034:p.Pro147Leu						p.P147L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	579	+			147					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.440C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000196664	ENST00000380659	T	0.01313	5.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19712	-1.0297	10	0.87932	D	0	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	147	Q9NYK1	TLR7_HUMAN	L	147	ENSP00000370034:P147L	ENSP00000370034:P147L	P	+	2	0	TLR7	12813988	1.000000	0.71417	0.392000	0.26245	0.026000	0.11368	7.766000	0.85320	2.368000	0.80403	0.589000	0.80489	CCG		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	8	0	0	0	1	0	41	8				
ZNF616	90317	broad.mit.edu	37	19	52619034	52619034	+	Silent	SNP	G	G	A	rs139023956		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52619034G>A	ENST00000600228.1	-	4	1644	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AAGCTTTCTCGCCGGTATGAA	0.383																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1381-1383)ggC>ggT		zinc finger protein 616		G		3,4403	6.2+/-15.9	0,3,2200	142.0	127.0	132.0		1383	0.0	0.0	19	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	ZNF616	NM_178523.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		461/782	52619034	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619034G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1383C>T	19.37:g.52619034G>A						ZNF616_ENST00000330123.5_3'UTR	p.G461G	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1644	-			461					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1383C>T	CCDS33090.1																																																																																				0.383	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		52	97	0	0	0	1	0	52	97				
KLRAP1	10748	broad.mit.edu	37	12	10746521	10746521	+	RNA	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10746521T>C	ENST00000510134.2	-	0	398									killer cell lectin-like receptor subfamily A pseudogene 1											breast(1)|large_intestine(1)|lung(1)	3						CAAGTCTGTTTACATCCCTTC	0.368																																						ENST00000510134.2																			0				breast(1)|large_intestine(1)|lung(1)	3															119.0	112.0	114.0					12																	10746521		2203	4300	6503			0							g.chr12:10746521T>C	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10746521T>C														0	398	-									RNA	SNP	ENST00000510134.2	37																																																																																						0.368	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		21	26	0	0	0	1	0	21	26				
CCDC146	57639	broad.mit.edu	37	7	76888316	76888316	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:76888316A>G	ENST00000285871.4	+	7	816	c.689A>G	c.(688-690)gAa>gGa	p.E230G	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	230										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TACTAGGATGAAGTGGCCCAC	0.318																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(688-690)gAa>gGa		coiled-coil domain containing 146							90.0	84.0	86.0					7																	76888316		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76888316A>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.689A>G	7.37:g.76888316A>G	ENSP00000285871:p.Glu230Gly					CCDC146_ENST00000431197.1_5'UTR	p.E230G	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			7	816	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	230					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.689A>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155078	0.78114	.	.	ENSG00000135205	ENST00000285871	T	0.29142	1.58	5.6	5.6	0.85130	.	0.231995	0.43579	D	0.000550	T	0.45054	0.1323	M	0.62723	1.935	0.80722	D	1	D	0.57257	0.979	P	0.54815	0.761	T	0.39121	-0.9629	10	0.49607	T	0.09	-7.7218	13.2934	0.60284	1.0:0.0:0.0:0.0	.	230	Q8IYE0	CC146_HUMAN	G	230	ENSP00000285871:E230G	ENSP00000285871:E230G	E	+	2	0	AC007000.1	76726252	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	5.600000	0.67599	2.121000	0.65114	0.460000	0.39030	GAA		0.318	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		3	46	0	0	0	1	0	3	46				
RAB3A	5864	broad.mit.edu	37	19	18313528	18313528	+	Missense_Mutation	SNP	C	C	T	rs367923648		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18313528C>T	ENST00000222256.4	-	2	201	c.23G>A	c.(22-24)cGc>cAc	p.R8H	AC068499.10_ENST00000596473.1_RNA|AC068499.10_ENST00000599416.2_RNA|RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000594805.3_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	8					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCCCATAGCGCGAGTCTGT	0.587											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(22-24)cGc>cAc		RAB3A, member RAS oncogene family		C	HIS/ARG	0,4406		0,0,2203	180.0	153.0	162.0		23	4.4	1.0	19		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAB3A	NM_002866.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	8/221	18313528	1,13005	2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313528C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.23G>A	19.37:g.18313528C>T	ENSP00000222256:p.Arg8His		OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.R8H	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	201	-			8					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.23G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352930	0.61293	0.0	1.16E-4	ENSG00000105649	ENST00000222256	T	0.65549	-0.16	4.4	4.4	0.53042	.	0.085243	0.56097	D	0.000028	T	0.46268	0.1384	N	0.14661	0.345	0.58432	D	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.46303	-0.9201	10	0.62326	D	0.03	-14.4127	14.4727	0.67526	0.0:1.0:0.0:0.0	.	8	P20336	RAB3A_HUMAN	H	8	ENSP00000222256:R8H	ENSP00000222256:R8H	R	-	2	0	RAB3A	18174528	1.000000	0.71417	0.982000	0.44146	0.731000	0.41821	6.144000	0.71762	1.996000	0.58369	0.313000	0.20887	CGC		0.587	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		19	90	0	0	0	1	0	19	90				
TLK2	11011	broad.mit.edu	37	17	60685410	60685410	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60685410C>T	ENST00000326270.9	+	22	2314	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	TLK2_ENST00000582809.1_Silent_p.G511G|TLK2_ENST00000542523.1_Silent_p.G628G|TLK2_ENST00000346027.5_Silent_p.G660G|TLK2_ENST00000343388.7_Silent_p.G628G	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGCCTTTTGGCCATAACCAGT	0.403																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1531-1533)ggC>ggT		tousled-like kinase 2							61.0	63.0	62.0					17																	60685410		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685410C>T	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2046C>T	17.37:g.60685410C>T						TLK2_ENST00000326270.9_Silent_p.G682G|TLK2_ENST00000542523.1_Silent_p.G628G|TLK2_ENST00000346027.5_Silent_p.G660G|TLK2_ENST00000343388.7_Silent_p.G628G	p.G511G			Q86UE8	TLK2_HUMAN			22	2236	+			682			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1533C>T																																																																																					0.403	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		15	27	0	0	0	1	0	15	27				
EPG5	57724	broad.mit.edu	37	18	43479517	43479517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43479517C>T	ENST00000282041.5	-	27	4695	c.4661G>A	c.(4660-4662)cGg>cAg	p.R1554Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1554					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGAGATTCCCGAAGAGCTGC	0.453																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4660-4662)cGg>cAg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							68.0	63.0	65.0					18																	43479517		1938	4152	6090	SO:0001583	missense	57724				autophagy			g.chr18:43479517C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4661G>A	18.37:g.43479517C>T	ENSP00000282041:p.Arg1554Gln					EPG5_ENST00000585906.1_5'UTR	p.R1554Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			27	4695	-			1554					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4661G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520590	0.85495	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10288	2.89	5.96	5.96	0.96718	.	.	.	.	.	T	0.22742	0.0549	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.00205	-1.1922	9	0.27785	T	0.31	-7.2971	20.422	0.99049	0.0:1.0:0.0:0.0	.	1554	Q9HCE0	EPG5_HUMAN	Q	1554;429	ENSP00000282041:R1554Q	ENSP00000282041:R1554Q	R	-	2	0	EPG5	41733515	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	6.382000	0.73167	2.832000	0.97577	0.655000	0.94253	CGG		0.453	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		11	21	0	0	0	1	0	11	21				
YY1AP1	55249	broad.mit.edu	37	1	155629458	155629458	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155629458C>T	ENST00000295566.4	-	11	2404	c.2381G>A	c.(2380-2382)gGa>gAa	p.G794E	YY1AP1_ENST00000347088.5_Missense_Mutation_p.G748E|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G717E|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G748E|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G748E|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G594E|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G886E|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G728E|YY1AP1_ENST00000368340.5_Missense_Mutation_p.G866E|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G717E	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	794					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCAAAGAAATCCACTGATTTC	0.493																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(2596-2598)gGa>gAa		YY1 associated protein 1							115.0	127.0	123.0					1																	155629458		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155629458C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2381G>A	1.37:g.155629458C>T	ENSP00000295566:p.Gly794Glu					YY1AP1_ENST00000368339.5_Missense_Mutation_p.G886E|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G748E|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G717E|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G737E|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G728E|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G717E|YY1AP1_ENST00000295566.4_Missense_Mutation_p.G794E|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G594E|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G748E|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G748E|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G737E	p.G866E	NM_001198904.1	NP_001185833.1					10	2705	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2597G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858231	0.32791	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.77;1.78;1.79;1.78;1.77;1.53;1.66;1.78;1.79;1.79;1.48;1.77	1.28	1.28	0.21552	.	0.307408	0.31010	N	0.008423	T	0.18593	0.0446	N	0.22421	0.69	0.09310	N	1	B;D;D;D;D	0.76494	0.258;0.961;0.999;0.961;0.979	B;P;D;P;P	0.80764	0.058;0.666;0.994;0.666;0.801	T	0.03576	-1.1023	10	0.72032	D	0.01	.	3.5617	0.07885	0.0:0.7479:0.0:0.2521	.	886;728;794;748;866	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	E	737;748;717;748;737;866;794;748;717;728;886;594	ENSP00000352134:G737E;ENSP00000347686:G748E;ENSP00000311138:G717E;ENSP00000316079:G748E;ENSP00000355298:G737E;ENSP00000357324:G866E;ENSP00000295566:G794E;ENSP00000357314:G748E;ENSP00000385791:G717E;ENSP00000385390:G728E;ENSP00000357323:G886E;ENSP00000437926:G594E	ENSP00000295566:G794E	G	-	2	0	YY1AP1	153896082	0.000000	0.05858	0.013000	0.15412	0.021000	0.10359	0.014000	0.13333	1.012000	0.39366	0.313000	0.20887	GGA		0.493	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		5	91	0	0	0	1	0	5	91				
MAP3K12	7786	broad.mit.edu	37	12	53876414	53876414	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53876414G>A	ENST00000267079.2	-	12	2299	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R725W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R725W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	692					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R692R(1)|p.R725R(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACCCAGCCCGGCTTCCTCCC	0.627																																						ENST00000267079.2																			2	Substitution - coding silent(2)	p.R692R(1)|p.R725R(1)	lung(2)	NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2074-2076)Cgg>Tgg		mitogen-activated protein kinase kinase kinase 12							63.0	72.0	69.0					12																	53876414		2201	4298	6499	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876414G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2074C>T	12.37:g.53876414G>A	ENSP00000267079:p.Arg692Trp					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R725W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R725W	p.R692W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2299	-			692					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2074C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363388	0.41902	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.57752	0.38;0.38;0.38	4.14	4.14	0.48551	.	0.206019	0.24996	N	0.033957	T	0.52108	0.1714	L	0.47716	1.5	0.33747	D	0.620165	D;D	0.61080	0.989;0.981	P;B	0.47573	0.55;0.446	T	0.68179	-0.5477	10	0.66056	D	0.02	.	14.3432	0.66641	0.0:0.0:1.0:0.0	.	725;692	G3V1Y2;Q12852	.;M3K12_HUMAN	W	692;725;725	ENSP00000267079:R692W;ENSP00000449038:R725W;ENSP00000448689:R725W	ENSP00000267079:R692W	R	-	1	2	MAP3K12	52162681	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.707000	0.25704	2.604000	0.88044	0.491000	0.48974	CGG		0.627	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		40	51	0	0	0	1	0	40	51				
SCUBE2	57758	broad.mit.edu	37	11	9049017	9049017	+	Silent	SNP	C	C	T	rs376981822		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9049017C>T	ENST00000309263.3	-	19	2580	c.2508G>A	c.(2506-2508)acG>acA	p.T836T	SCUBE2_ENST00000520467.1_Silent_p.T808T|SCUBE2_ENST00000457346.2_Silent_p.T865T|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	836	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGATGGTCCACGTACACTCGG	0.552																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2593-2595)acG>acA		signal peptide, CUB domain, EGF-like 2		C	,	0,4402		0,0,2201	169.0	137.0	148.0		,2424	-10.9	0.0	11		148	1,8591	1.2+/-3.3	0,1,4295	no	intron,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	,808/972	9049017	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9049017C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2508G>A	11.37:g.9049017C>T						SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.T836T|SCUBE2_ENST00000520467.1_Silent_p.T808T	p.T865T			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	20	2669	-			836			CUB.		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.2595G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.338|7.338	0.620318|0.620318	0.14193|0.14193	0.0|0.0	1.16E-4|1.16E-4	ENSG00000175356|ENSG00000175356	ENST00000519202|ENST00000528651	.|.	.|.	.|.	5.43|5.43	-10.9|-10.9	0.00192|0.00192	.|.	.|.	.|.	.|.	.|.	T|T	0.33089|0.33089	0.0851|0.0851	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48399|0.48399	-0.9039|-0.9039	4|4	.|.	.|.	.|.	.|.	2.7097|2.7097	0.05171|0.05171	0.1482:0.1475:0.2796:0.4246|0.1482:0.1475:0.2796:0.4246	.|.	.|.	.|.	.|.	H|M	19|24	.|.	.|.	R|V	-|-	2|1	0|0	SCUBE2|SCUBE2	9005593|9005593	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.944000|0.944000	0.59088|0.59088	-9.220000|-9.220000	0.00013|0.00013	-3.622000|-3.622000	0.00131|0.00131	-1.608000|-1.608000	0.00805|0.00805	CGT|GTG		0.552	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		14	21	0	0	0	1	0	14	21				
MON2	23041	broad.mit.edu	37	12	62960181	62960181	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62960181C>T	ENST00000393632.2	+	29	4665	c.4274C>T	c.(4273-4275)gCg>gTg	p.A1425V	MON2_ENST00000280379.6_Missense_Mutation_p.A1426V|MON2_ENST00000552738.1_Missense_Mutation_p.A1396V|MON2_ENST00000393630.3_Missense_Mutation_p.A1426V|MON2_ENST00000546600.1_Missense_Mutation_p.A1425V|MON2_ENST00000393629.2_Missense_Mutation_p.A1419V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1425					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAAAACAGCGTGTCACAAA	0.353																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(4276-4278)gCg>gTg		MON2 homolog (S. cerevisiae)							131.0	139.0	137.0					12																	62960181		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62960181C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4274C>T	12.37:g.62960181C>T	ENSP00000377252:p.Ala1425Val					MON2_ENST00000280379.6_Missense_Mutation_p.A1426V|MON2_ENST00000552738.1_Missense_Mutation_p.A1396V|MON2_ENST00000393632.2_Missense_Mutation_p.A1425V|MON2_ENST00000546600.1_Missense_Mutation_p.A1425V|MON2_ENST00000393629.2_Missense_Mutation_p.A1419V	p.A1426V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	30	4668	+			1426					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4277C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455839	0.84209	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.59638	0.26;0.25;0.26;0.26;0.26;0.26	5.05	5.05	0.67936	.	0.122449	0.56097	D	0.000038	T	0.70011	0.3175	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.997;0.974;0.998;0.998	P;P;P;P;D	0.64595	0.847;0.902;0.659;0.868;0.927	T	0.68693	-0.5341	9	.	.	.	-8.6348	16.9447	0.86227	0.0:1.0:0.0:0.0	.	1419;1396;1425;294;1425	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	V	1425;1426;1426;1425;1396;1419	ENSP00000377252:A1425V;ENSP00000377250:A1426V;ENSP00000280379:A1426V;ENSP00000447407:A1425V;ENSP00000449215:A1396V;ENSP00000377249:A1419V	.	A	+	2	0	MON2	61246448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.485000	0.83878	0.655000	0.94253	GCG		0.353	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		19	57	0	0	0	1	0	19	57				
ISLR	3671	broad.mit.edu	37	15	74467314	74467314	+	Missense_Mutation	SNP	C	C	T	rs199657194	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74467314C>T	ENST00000249842.3	+	2	472	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	ISLR_ENST00000395118.1_Missense_Mutation_p.R39C|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	39	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGTGCCTACCGCGACCTAGA	0.647																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(115-117)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat							65.0	57.0	60.0					15																	74467314		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467314C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.115C>T	15.37:g.74467314C>T	ENSP00000249842:p.Arg39Cys					RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R39C	p.R39C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	472	+			39			LRRNT.			Missense_Mutation	SNP	ENST00000249842.3	37	c.115C>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966907	0.53507	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.48201	0.82;0.82	4.05	1.92	0.25849	Leucine-rich repeat-containing N-terminal (1);	0.146929	0.25526	U	0.030067	T	0.59972	0.2233	M	0.87038	2.855	0.46564	D	0.999101	D	0.76494	0.999	P	0.50490	0.642	T	0.69206	-0.5206	10	0.72032	D	0.01	.	11.9881	0.53159	0.5194:0.4806:0.0:0.0	.	39	O14498	ISLR_HUMAN	C	39	ENSP00000249842:R39C;ENSP00000378550:R39C	ENSP00000249842:R39C	R	+	1	0	ISLR	72254367	1.000000	0.71417	0.859000	0.33776	0.566000	0.35808	2.941000	0.49011	0.670000	0.31165	0.313000	0.20887	CGC		0.647	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		19	29	0	0	0	1	0	19	29				
TP73	7161	broad.mit.edu	37	1	3648065	3648065	+	Missense_Mutation	SNP	A	A	G	rs369898417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3648065A>G	ENST00000378295.4	+	13	1678	c.1523A>G	c.(1522-1524)tAt>tGt	p.Y508C	TP73_ENST00000378290.4_Missense_Mutation_p.Y437C|TP73_ENST00000346387.4_Missense_Mutation_p.Y412C|TP73_ENST00000378285.1_Intron|TP73_ENST00000604479.1_Missense_Mutation_p.Y412C|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Intron|TP73_ENST00000378280.1_Silent_p.V409V|TP73_ENST00000378288.4_Missense_Mutation_p.Y459C|TP73_ENST00000354437.4_Intron|TP73_ENST00000357733.3_Intron	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	508	SAM.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGCATCGAGTATTTCACCTCC	0.542																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1522-1524)tAt>tGt		tumor protein p73		A	CYS/TYR,,,,,,,CYS/TYR,,,CYS/TYR,CYS/TYR,CYS/TYR	0,4404		0,0,2202	102.0	106.0	105.0		1376,,1227,,1374,,,1235,,,1088,1310,1523	3.3	1.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,coding-synonymous,intron,coding-synonymous,intron,intron,missense,intron,intron,missense,missense,missense	TP73	NM_001126240.2,NM_001126241.2,NM_001126242.2,NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_001204189.1,NM_001204190.1,NM_001204191.1,NM_001204192.1,NM_005427.3	194,,,,,,,194,,,194,194,194	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign,,,,,,,benign,,,benign,benign,benign	459/588,,409/427,,458/476,,,412/541,,,363/492,437/566,508/637	3648065	1,13003	2202	4300	6502	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3648065A>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1523A>G	1.37:g.3648065A>G	ENSP00000367545:p.Tyr508Cys					TP73_ENST00000603362.1_Intron|TP73_ENST00000378290.4_Missense_Mutation_p.Y437C|TP73_ENST00000378288.4_Missense_Mutation_p.Y459C|TP73_ENST00000357733.3_Intron|TP73_ENST00000354437.4_Intron|TP73_ENST00000346387.4_Missense_Mutation_p.Y412C|TP73_ENST00000604479.1_Missense_Mutation_p.Y412C|TP73_ENST00000378280.1_Silent_p.V409V|TP73_ENST00000378285.1_Intron|TP73_ENST00000604074.1_Intron	p.Y508C	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	13	1678	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	508			SAM.		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.1523A>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230585	0.39399	0.0	1.16E-4	ENSG00000078900	ENST00000378295;ENST00000346387;ENST00000378288;ENST00000378290	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.58	3.28	0.37604	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.118831	0.64402	N	0.000015	T	0.78641	0.4315	.	.	.	0.53005	D	0.999966	B;B	0.17038	0.005;0.02	B;B	0.23716	0.017;0.048	T	0.69684	-0.5079	9	0.41790	T	0.15	-0.5873	8.4941	0.33117	0.8396:0.0:0.1604:0.0	.	459;508	O15350-8;O15350	.;P73_HUMAN	C	508;412;459;437	ENSP00000367545:Y508C;ENSP00000340740:Y412C;ENSP00000367537:Y459C;ENSP00000367539:Y437C	ENSP00000340740:Y412C	Y	+	2	0	TP73	3637925	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	3.733000	0.55029	0.419000	0.25927	0.459000	0.35465	TAT		0.542	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		62	78	0	0	0	1	0	62	78				
SGK223	157285	broad.mit.edu	37	8	8175954	8175954	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8175954G>A	ENST00000520004.1	-	6	4195	c.3931C>T	c.(3931-3933)Cgt>Tgt	p.R1311C	SGK223_ENST00000330777.4_Missense_Mutation_p.R1311C			Q86YV5	SG223_HUMAN		1315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATGCGGATACGCTTGATGGGG	0.711																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3931-3933)Cgt>Tgt									21.0	25.0	23.0					8																	8175954		2040	4175	6215	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175954G>A																												ENST00000520004.1:c.3931C>T	8.37:g.8175954G>A	ENSP00000428054:p.Arg1311Cys					SGK223_ENST00000330777.4_Missense_Mutation_p.R1311C	p.R1311C			Q86YV5	SG223_HUMAN			6	4195	-			1311		R -> H.	Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3931C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855557	0.91355	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	D;D	0.94650	-3.48;-3.48	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	10	0.87932	D	0	.	17.5329	0.87819	0.0:0.0:1.0:0.0	.	1311	Q86YV5	SG223_HUMAN	C	1311	ENSP00000330930:R1311C;ENSP00000428054:R1311C	ENSP00000330930:R1311C	R	-	1	0	AC068353.1	8213364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.415000	0.66411	2.701000	0.92244	0.462000	0.41574	CGT		0.711	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			21	20	0	0	0	1	0	21	20				
INCENP	3619	broad.mit.edu	37	11	61912668	61912668	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61912668G>A	ENST00000394818.3	+	13	1945	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	INCENP_ENST00000278849.4_Silent_p.V577V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	581					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCCGCAAGGTGCTGCAGGCCC	0.607																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1741-1743)gtG>gtA		inner centromere protein antigens 135/155kDa							90.0	94.0	93.0					11																	61912668		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61912668G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1743G>A	11.37:g.61912668G>A						INCENP_ENST00000278849.4_Silent_p.V577V	p.V581V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			13	1945	+			581					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.1743G>A	CCDS44624.1																																																																																				0.607	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		25	35	0	0	0	1	0	25	35				
EHBP1	23301	broad.mit.edu	37	2	63175805	63175805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63175805C>A	ENST00000263991.5	+	14	2411	c.1929C>A	c.(1927-1929)taC>taA	p.Y643*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Y608*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	643						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CCTCCCCTTACTGTCGCAGGA	0.468																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1927-1929)taC>taA		EH domain binding protein 1							40.0	37.0	38.0					2																	63175805		2203	4299	6502	SO:0001587	stop_gained	23301					cytoplasm|membrane		g.chr2:63175805C>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1929C>A	2.37:g.63175805C>A	ENSP00000263991:p.Tyr643*					EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Y608*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Y608*	p.Y643*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2411	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		643					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	ENST00000263991.5	37	c.1929C>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	42	9.786335	0.99263	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	5.93	3.18	0.36537	.	0.236869	0.33477	N	0.004880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6273	0.39759	0.0:0.7228:0.0:0.2772	.	.	.	.	X	608;608;643;608;608	.	ENSP00000263991:Y643X	Y	+	3	2	EHBP1	63029309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.796000	0.26986	0.411000	0.25702	-0.150000	0.13652	TAC		0.468	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		14	19	1	0	1.49906e-05	1	1.54943e-05	14	19				
DHX34	9704	broad.mit.edu	37	19	47884452	47884452	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47884452G>A	ENST00000328771.4	+	16	3518	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1057					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GAATGACACAGACCTGTACAG	0.672																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3169-3171)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 34							68.0	70.0	70.0					19																	47884452		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884452G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3169G>A	19.37:g.47884452G>A	ENSP00000331907:p.Asp1057Asn						p.D1057N	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3518	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1057					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3169G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123794	0.37436	.	.	ENSG00000134815	ENST00000328771	T	0.02837	4.14	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000019	T	0.03011	0.0089	L	0.28400	0.85	0.47123	D	0.999324	B	0.28512	0.214	B	0.20767	0.031	T	0.58284	-0.7663	10	0.27082	T	0.32	-39.6339	15.7157	0.77667	0.0:0.0:1.0:0.0	.	1057	Q14147	DHX34_HUMAN	N	1057	ENSP00000331907:D1057N	ENSP00000331907:D1057N	D	+	1	0	DHX34	52576283	1.000000	0.71417	0.923000	0.36655	0.320000	0.28249	4.617000	0.61204	2.440000	0.82611	0.561000	0.74099	GAC		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		19	37	0	0	0	1	0	19	37				
PCNXL4	64430	broad.mit.edu	37	14	60600823	60600823	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60600823C>T	ENST00000406854.1	+	11	3957	c.3403C>T	c.(3403-3405)Cgt>Tgt	p.R1135C	PCNXL4_ENST00000404681.2_Missense_Mutation_p.R1135C|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000535349.1_3'UTR|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R901C			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1135						integral component of membrane (GO:0016021)											TGATGAAGAACGTTATAGTAT	0.398																																						ENST00000406854.1																			0											c.(3403-3405)Cgt>Tgt		pecanex-like 4 (Drosophila)							138.0	133.0	135.0					14																	60600823		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60600823C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3403C>T	14.37:g.60600823C>T	ENSP00000384801:p.Arg1135Cys					PCNXL4_ENST00000535349.1_3'UTR|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.R1135C|PCNXL4_ENST00000317623.4_Missense_Mutation_p.R901C	p.R1135C							11	3957	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.3403C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.302567	0.95601	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000404681	T;T;T	0.67698	-0.28;-0.28;-0.28	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87581	0.2484	10	0.87932	D	0	.	19.9352	0.97137	0.0:1.0:0.0:0.0	.	1135	Q63HM2	CN135_HUMAN	C	901;1135;1135	ENSP00000317396:R901C;ENSP00000384801:R1135C;ENSP00000385713:R1135C	ENSP00000317396:R901C	R	+	1	0	C14orf135	59670576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.129000	0.77225	2.703000	0.92315	0.643000	0.83706	CGT		0.398	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		23	40	0	0	0	1	0	23	40				
FAT3	120114	broad.mit.edu	37	11	92577883	92577883	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92577883C>T	ENST00000298047.6	+	18	11367	c.11350C>T	c.(11350-11352)Cgt>Tgt	p.R3784C	FAT3_ENST00000533797.1_Missense_Mutation_p.R119C|FAT3_ENST00000409404.2_Missense_Mutation_p.R3784C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3634C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3784					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGAACGTGCGTTGCACCTG	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11350-11352)Cgt>Tgt		FAT atypical cadherin 3							70.0	67.0	68.0					11																	92577883		2118	4242	6360	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577883C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11350C>T	11.37:g.92577883C>T	ENSP00000298047:p.Arg3784Cys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R3784C|FAT3_ENST00000533797.1_Missense_Mutation_p.R119C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3634C	p.R3784C			Q8TDW7	FAT3_HUMAN			18	11367	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3784					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11350C>T		.	.	.	.	.	.	.	.	.	.	C	18.72	3.683813	0.68157	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.97	5.97	0.96955	.	.	.	.	.	T	0.56307	0.1976	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.65874	0.939;0.731	T	0.51756	-0.8665	9	0.56958	D	0.05	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	3784;3784	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	3784;3784;3634;119	ENSP00000298047:R3784C;ENSP00000387040:R3784C;ENSP00000432586:R3634C;ENSP00000436399:R119C	ENSP00000298047:R3784C	R	+	1	0	FAT3	92217531	0.998000	0.40836	0.998000	0.56505	0.819000	0.46315	2.409000	0.44583	2.828000	0.97474	0.655000	0.94253	CGT		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	3	0	0	0	1	0	3	3				
PROCR	10544	broad.mit.edu	37	20	33764034	33764034	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33764034T>C	ENST00000216968.4	+	3	468	c.386T>C	c.(385-387)gTc>gCc	p.V129A	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	129					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGAGCCCATGTCTTCTTCGAA	0.602																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(385-387)gTc>gCc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						81.0	82.0	82.0					20																	33764034		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764034T>C	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.386T>C	20.37:g.33764034T>C	ENSP00000216968:p.Val129Ala					EDEM2_ENST00000540582.1_Intron	p.V129A	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	468	+			129					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.386T>C	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091995	0.55968	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00644	6.01	5.61	2.18	0.27775	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.838949	0.10634	N	0.651784	T	0.01661	0.0053	M	0.78223	2.4	0.27259	N	0.958687	P	0.43024	0.798	P	0.49332	0.607	T	0.41698	-0.9494	10	0.25751	T	0.34	-8.8246	6.4458	0.21875	0.0:0.2777:0.0:0.7223	.	129	Q9UNN8	EPCR_HUMAN	A	129	ENSP00000216968:V129A	ENSP00000216968:V129A	V	+	2	0	PROCR	33227695	0.454000	0.25728	0.593000	0.28771	0.944000	0.59088	0.369000	0.20416	0.430000	0.26230	0.459000	0.35465	GTC		0.602	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			26	38	0	0	0	1	0	26	38				
MRPL41	64975	broad.mit.edu	37	9	140446702	140446702	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140446702G>A	ENST00000371443.5	+	2	957	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	57					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CAAGGAGATGGTCCCGGAGTT	0.687																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(169-171)Gtc>Atc		mitochondrial ribosomal protein L41							66.0	55.0	58.0					9																	140446702		2202	4300	6502	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446702G>A	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.169G>A	9.37:g.140446702G>A	ENSP00000360498:p.Val57Ile						p.V57I	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	957	+	all_cancers(76;0.106)		57					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.169G>A	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240442	0.39598	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.14	5.14	0.70334	.	0.129608	0.51477	D	0.000089	T	0.37100	0.0991	N	0.10874	0.06	0.52099	D	0.999948	B	0.20550	0.046	B	0.23574	0.047	T	0.31888	-0.9927	9	0.02654	T	1	.	17.6212	0.88082	0.0:0.0:1.0:0.0	.	57	Q8IXM3	RM41_HUMAN	I	57	.	ENSP00000360498:V57I	V	+	1	0	MRPL41	139566523	1.000000	0.71417	0.857000	0.33713	0.863000	0.49368	2.914000	0.48797	2.414000	0.81942	0.485000	0.47835	GTC		0.687	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		12	21	0	0	0	1	0	12	21				
DSG4	147409	broad.mit.edu	37	18	28986322	28986322	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28986322T>A	ENST00000308128.4	+	12	2054	c.1919T>A	c.(1918-1920)aTc>aAc	p.I640N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.I640N	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	640					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTCTGGGCATCCTGCTACTG	0.458																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1918-1920)aTc>aAc		desmoglein 4							89.0	88.0	88.0					18																	28986322		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986322T>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1919T>A	18.37:g.28986322T>A	ENSP00000311859:p.Ile640Asn					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.I640N	p.I640N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1948	+			640					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1919T>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	4.920	0.170870	0.09391	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.57273	0.41;0.41	5.65	0.186	0.15105	.	1.219320	0.06383	N	0.715581	T	0.46425	0.1392	L	0.42245	1.32	0.09310	N	0.999996	B;B	0.31435	0.24;0.323	B;B	0.36289	0.221;0.162	T	0.46582	-0.9181	10	0.72032	D	0.01	.	5.6973	0.17863	0.0:0.2771:0.3437:0.3792	.	640;640	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	N	640	ENSP00000311859:I640N;ENSP00000352785:I640N	ENSP00000311859:I640N	I	+	2	0	DSG4	27240320	0.015000	0.18098	0.024000	0.17045	0.005000	0.04900	0.023000	0.13533	-0.189000	0.10482	-1.063000	0.02288	ATC		0.458	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		35	56	0	0	0	1	0	35	56				
IGDCC3	9543	broad.mit.edu	37	15	65623855	65623855	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65623855G>A	ENST00000327987.4	-	8	1542	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	431	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACTGCCCGCACATTGCGG	0.627																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1291-1293)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 3							36.0	35.0	35.0					15																	65623855		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65623855G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1291C>T	15.37:g.65623855G>A	ENSP00000332773:p.Arg431Trp					IGDCC3_ENST00000559231.1_5'UTR	p.R431W	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			8	1542	-			431			Fibronectin type-III 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.1291C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004493	0.35320	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.59083	0.29	4.92	2.91	0.33838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.233150	0.05514	N	0.560809	T	0.69178	0.3082	M	0.71581	2.175	0.09310	N	1	D	0.69078	0.997	P	0.56788	0.806	T	0.49818	-0.8899	10	0.62326	D	0.03	-1.8024	6.3268	0.21248	0.0944:0.0:0.538:0.3675	.	431	Q8IVU1	IGDC3_HUMAN	W	431;294	ENSP00000332773:R431W	ENSP00000332773:R431W	R	-	1	2	IGDCC3	63410908	0.688000	0.27680	0.125000	0.21846	0.007000	0.05969	4.111000	0.57838	1.046000	0.40249	-0.136000	0.14681	CGG		0.627	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	23	0	0	0	1	0	5	23				
ACKR2	1238	broad.mit.edu	37	3	42906816	42906816	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42906816G>A	ENST00000422265.1	+	3	997	c.822G>A	c.(820-822)acG>acA	p.T274T	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T274T|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.T274T|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	274					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTGCATACGCTGTTGGACC	0.537																																						ENST00000422265.1																			0											c.(820-822)acG>acA		atypical chemokine receptor 2							230.0	189.0	203.0					3																	42906816		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906816G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.822G>A	3.37:g.42906816G>A						KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T274T|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.T274T|ACKR2_ENST00000471537.1_Intron	p.T274T	NM_001296.4	NP_001287.2					3	997	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.822G>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		50	64	0	0	0	1	0	50	64				
SMPDL3B	27293	broad.mit.edu	37	1	28275623	28275623	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28275623T>C	ENST00000373894.3	+	3	514	c.323T>C	c.(322-324)gTa>gCa	p.V108A	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V108A|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V108A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	108					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGCAGCTGTACTGGAAATT	0.527																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(322-324)gTa>gCa		sphingomyelin phosphodiesterase, acid-like 3B							122.0	108.0	113.0					1																	28275623		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28275623T>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.323T>C	1.37:g.28275623T>C	ENSP00000363001:p.Val108Ala					SMPDL3B_ENST00000373888.4_Missense_Mutation_p.V108A|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.V108A|RP11-460I13.2_ENST00000448015.1_RNA	p.V108A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	3	514	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	108					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.323T>C	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775227	0.70107	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.94232	-1.82;-1.82;-1.82;-3.38	5.85	5.85	0.93711	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.77103	2.36	0.53688	D	0.99997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.98;0.993;0.983	D	0.96260	0.9190	10	0.46703	T	0.11	-31.7329	16.2375	0.82384	0.0:0.0:0.0:1.0	.	108;108;108	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	A	108;138;138;108;108;108	ENSP00000363001:V108A;ENSP00000388092:V138A;ENSP00000362995:V108A;ENSP00000449450:V108A	ENSP00000362995:V108A	V	+	2	0	SMPDL3B	28148210	1.000000	0.71417	0.674000	0.29902	0.171000	0.22731	7.750000	0.85110	2.222000	0.72286	0.533000	0.62120	GTA		0.527	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		8	22	0	0	0	1	0	8	22				
WFS1	7466	broad.mit.edu	37	4	6304076	6304076	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6304076G>A	ENST00000226760.1	+	8	2724	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	WFS1_ENST00000503569.1_Missense_Mutation_p.A852T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	852					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAACTGCATGGCCCAGCTCTC	0.627																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2554-2556)Gcc>Acc		Wolfram syndrome 1 (wolframin)							47.0	46.0	46.0					4																	6304076		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304076G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2554G>A	4.37:g.6304076G>A	ENSP00000226760:p.Ala852Thr					WFS1_ENST00000503569.1_Missense_Mutation_p.A852T	p.A852T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2724	+			852					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2554G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	G	2.842	-0.240246	0.05944	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.93133	-3.17;-3.17	4.82	3.97	0.46021	.	0.251307	0.38326	N	0.001739	D	0.84257	0.5432	N	0.14661	0.345	0.35440	D	0.794827	B	0.11235	0.004	B	0.11329	0.006	T	0.79845	-0.1631	10	0.25751	T	0.34	-28.7108	7.2964	0.26395	0.0929:0.0:0.7275:0.1796	.	852	O76024	WFS1_HUMAN	T	852;852;230	ENSP00000423337:A852T;ENSP00000226760:A852T	ENSP00000226760:A852T	A	+	1	0	WFS1	6354977	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	2.016000	0.40971	1.240000	0.43803	0.561000	0.74099	GCC		0.627	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			12	16	0	0	0	1	0	12	16				
ADAMTS15	170689	broad.mit.edu	37	11	130332480	130332480	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130332480G>A	ENST00000299164.2	+	4	1347	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	449	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCAGTGCGAGCTGGCTTTTG	0.642																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1345-1347)gaG>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							63.0	55.0	58.0					11																	130332480		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332480G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1347G>A	11.37:g.130332480G>A							p.E449E	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1347	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	449			Disintegrin.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1347G>A	CCDS8488.1																																																																																				0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		19	44	0	0	0	1	0	19	44				
KRT35	3886	broad.mit.edu	37	17	39635746	39635746	+	Silent	SNP	C	C	T	rs551988601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39635746C>T	ENST00000393989.1	-	3	606	c.564G>A	c.(562-564)acG>acA	p.T188T	KRT35_ENST00000246639.2_Silent_p.T158T	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	188	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGGACACCTCCGTCTCATACC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20781	0.0		0.0	False		,,,				2504	0.0					ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(472-474)acG>acA		keratin 35							81.0	77.0	79.0					17																	39635746		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635746C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.564G>A	17.37:g.39635746C>T						KRT35_ENST00000393989.1_Silent_p.T188T	p.T158T			Q92764	KRT35_HUMAN			3	606	-		Breast(137;0.000286)	188			Coil 1B.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.474G>A	CCDS11394.2																																																																																				0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		14	31	0	0	0	1	0	14	31				
ITPR3	3710	broad.mit.edu	37	6	33653961	33653961	+	Silent	SNP	C	C	T	rs149221361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33653961C>T	ENST00000374316.5	+	43	6859	c.5799C>T	c.(5797-5799)aaC>aaT	p.N1933N	ITPR3_ENST00000605930.1_Silent_p.N1933N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1933					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ATGAGGACAACGTGGGCCTCG	0.607																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5797-5799)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 3		C		0,4406		0,0,2203	61.0	52.0	55.0		5799	-3.5	0.9	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITPR3	NM_002224.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1933/2672	33653961	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33653961C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5799C>T	6.37:g.33653961C>T						ITPR3_ENST00000605930.1_Silent_p.N1933N	p.N1933N			Q14573	ITPR3_HUMAN			43	6859	+			1933					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.5799C>T	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	15	0	0	0	1	0	4	15				
RAP1GAP2	23108	broad.mit.edu	37	17	2930332	2930332	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:2930332C>T	ENST00000254695.8	+	22	2165	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A692V|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A677V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A673V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	692	Ser-rich.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGGCAGCTGCCACCCCGATC	0.647																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(2074-2076)gCc>gTc		RAP1 GTPase activating protein 2							22.0	27.0	25.0					17																	2930332		2192	4280	6472	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2930332C>T	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.2075C>T	17.37:g.2930332C>T	ENSP00000254695:p.Ala692Val					RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A677V|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A692V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A673V	p.A692V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			22	2165	+			692			Ser-rich.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.2075C>T	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138464	0.56936	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.82	4.82	0.62117	.	0.476927	0.23910	N	0.043360	T	0.80297	0.4597	N	0.08118	0	0.35386	D	0.790307	B;B	0.30439	0.279;0.183	B;B	0.31101	0.124;0.058	D	0.84478	0.0603	10	0.66056	D	0.02	-26.029	16.9144	0.86148	0.0:1.0:0.0:0.0	.	677;692	Q684P5-2;Q684P5	.;RPGP2_HUMAN	V	692;677;673;692	ENSP00000254695:A692V;ENSP00000389824:A677V;ENSP00000439688:A673V;ENSP00000444890:A692V	ENSP00000254695:A692V	A	+	2	0	RAP1GAP2	2877082	1.000000	0.71417	0.994000	0.49952	0.611000	0.37282	3.708000	0.54845	2.235000	0.73313	0.650000	0.86243	GCC		0.647	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			4	1	0	0	0	1	0	4	1				
CYP11A1	1583	broad.mit.edu	37	15	74631983	74631983	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74631983C>T	ENST00000268053.6	-	6	1256	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	CYP11A1_ENST00000419019.2_Missense_Mutation_p.A210T|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A210T	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	368					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGCATCGTGGCCATGTCTCCC	0.617																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(628-630)Gcc>Acc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						141.0	107.0	118.0					15																	74631983		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74631983C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1102G>A	15.37:g.74631983C>T	ENSP00000268053:p.Ala368Thr					CYP11A1_ENST00000268053.6_Missense_Mutation_p.A368T|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A210T	p.A210T	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			6	1323	-			368					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.628G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	0.419	-0.909256	0.02434	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.68479	-0.33;-0.33;-0.33	4.46	-2.18	0.07037	.	1.639610	0.03463	N	0.212448	T	0.43986	0.1272	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18587	-1.0332	10	0.13853	T	0.58	-21.6944	6.2027	0.20585	0.0:0.3677:0.2332:0.3991	.	368	P05108	CP11A_HUMAN	T	368;210;210;133	ENSP00000268053:A368T;ENSP00000351455:A210T;ENSP00000405488:A210T	ENSP00000268053:A368T	A	-	1	0	CYP11A1	72419036	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.011000	0.12721	-0.574000	0.05990	-0.326000	0.08463	GCC		0.617	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			7	10	0	0	0	1	0	7	10				
ZCCHC4	29063	broad.mit.edu	37	4	25363868	25363868	+	Missense_Mutation	SNP	G	G	A	rs368674649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25363868G>A	ENST00000302874.4	+	10	1178	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	385							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CCGTGTCAACGGTATGTTTCT	0.333																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1153-1155)cGg>cAg		zinc finger, CCHC domain containing 4		G	GLN/ARG	0,3696		0,0,1848	112.0	105.0	107.0		1154	5.9	1.0	4		107	1,8183		0,1,4091	no	missense	ZCCHC4	NM_024936.2	43	0,1,5939	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	385/514	25363868	1,11879	1848	4092	5940	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363868G>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1154G>A	4.37:g.25363868G>A	ENSP00000303468:p.Arg385Gln						p.R385Q	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			10	1178	+		Breast(46;0.0503)	385					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1154G>A	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479936	0.84747	0.0	1.22E-4	ENSG00000168228	ENST00000302874	T	0.38240	1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.76838	2.35	0.58432	D	0.999995	P	0.43750	0.816	B	0.37198	0.243	T	0.51403	-0.8710	10	0.72032	D	0.01	-12.0549	17.2374	0.87002	0.0:0.0:1.0:0.0	.	385	Q9H5U6	ZCHC4_HUMAN	Q	385	ENSP00000303468:R385Q	ENSP00000303468:R385Q	R	+	2	0	ZCCHC4	24972966	1.000000	0.71417	0.992000	0.48379	0.606000	0.37113	7.606000	0.82863	2.809000	0.96659	0.655000	0.94253	CGG		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			12	25	0	0	0	1	0	12	25				
SERPINE1	5054	broad.mit.edu	37	7	100779042	100779042	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100779042C>T	ENST00000223095.4	+	7	1204	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	SERPINE1_ENST00000445463.2_Silent_p.I334I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	349					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGTGAAGATCGAGGTGAACG	0.577																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1045-1047)atC>atT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						89.0	80.0	83.0					7																	100779042		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779042C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1047C>T	7.37:g.100779042C>T						SERPINE1_ENST00000445463.2_Silent_p.I334I	p.I349I	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1204	+	Lung NSC(181;0.136)|all_lung(186;0.182)		349					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1047C>T	CCDS5711.1																																																																																				0.577	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		10	25	0	0	0	1	0	10	25				
DRC7	84229	broad.mit.edu	37	16	57760785	57760785	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57760785C>T	ENST00000360716.3	+	15	2237	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y	CCDC135_ENST00000394337.4_Silent_p.Y672Y|CCDC135_ENST00000336825.8_Silent_p.Y607Y			Q8IY82	CC135_HUMAN		672					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCTACCAGTACGAGGCCATGA	0.577																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2014-2016)taC>taT		coiled-coil domain containing 135							74.0	65.0	68.0					16																	57760785		2197	4300	6497	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57760785C>T																												ENST00000360716.3:c.2016C>T	16.37:g.57760785C>T						CCDC135_ENST00000336825.8_Silent_p.Y607Y|CCDC135_ENST00000394337.4_Silent_p.Y672Y	p.Y672Y			Q8IY82	CC135_HUMAN			15	2237	+			672					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.2016C>T	CCDS10787.1																																																																																				0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	14	0	0	0	1	0	7	14				
NEIL1	79661	broad.mit.edu	37	15	75646188	75646188	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75646188G>A	ENST00000564784.1	+	7	1456	c.827G>A	c.(826-828)gGc>gAc	p.G276D	NEIL1_ENST00000355059.4_Missense_Mutation_p.G276D|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.G276D|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	276					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GACCGGCATGGCCGTACCATC	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(826-828)gGc>gAc	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							80.0	84.0	83.0					15																	75646188		2197	4294	6491	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75646188G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.827G>A	15.37:g.75646188G>A	ENSP00000457352:p.Gly276Asp					NEIL1_ENST00000569035.1_Missense_Mutation_p.G276D|NEIL1_ENST00000355059.4_Missense_Mutation_p.G276D	p.G276D			Q96FI4	NEIL1_HUMAN			7	1456	+			276					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.827G>A	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258609	0.80246	.	.	ENSG00000140398	ENST00000355059	T	0.59083	0.29	5.09	5.09	0.68999	Endonuclease VIII-like 1, DNA binding (1);	0.093472	0.64402	D	0.000001	T	0.70570	0.3239	L	0.59436	1.845	0.54753	D	0.999988	D	0.76494	0.999	D	0.70016	0.967	T	0.72921	-0.4145	10	0.66056	D	0.02	-24.1632	12.9441	0.58364	0.0813:0.0:0.9187:0.0	.	276	Q96FI4	NEIL1_HUMAN	D	276	ENSP00000347170:G276D	ENSP00000347170:G276D	G	+	2	0	NEIL1	73433241	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.694000	0.74587	2.375000	0.81037	0.561000	0.74099	GGC		0.622	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		40	75	0	0	0	1	0	40	75				
RBMXL2	27288	broad.mit.edu	37	11	7111074	7111074	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(721-723)cgC>cgT		RNA binding motif protein, X-linked-like 2							22.0	24.0	23.0					11																	7111074		2193	4277	6470	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111074C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.723C>T	11.37:g.7111074C>T							p.R241R	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	910	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.723C>T	CCDS7777.1																																																																																				0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		9	18	0	0	0	1	0	9	18				
EMID1	129080	broad.mit.edu	37	22	29611568	29611568	+	Missense_Mutation	SNP	G	G	A	rs202038784		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29611568G>A	ENST00000404820.3	+	3	395	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T			Q96A84	EMID1_HUMAN	EMI domain containing 1	90	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GATAGTGACCGCCCGTGAGTG	0.627																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(268-270)Gcc>Acc		EMI domain containing 1							105.0	96.0	99.0					22																	29611568		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29611568G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.268G>A	22.37:g.29611568G>A	ENSP00000384452:p.Ala90Thr					EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T	p.A90T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			3	456	+			90			EMI.		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.268G>A		.	.	.	.	.	.	.	.	.	.	G	12.33	1.904501	0.33628	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.43	-0.714	0.11219	EMI domain (2);	0.411389	0.20796	N	0.085523	T	0.23249	0.0562	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.18863	0.031;0.008;0.007;0.025	B;B;B;B	0.15052	0.011;0.006;0.012;0.004	T	0.26950	-1.0088	10	0.02654	T	1	-9.603	3.6494	0.08198	0.3772:0.0:0.4445:0.1783	.	90;90;90;90	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	T	90	ENSP00000335481:A90T;ENSP00000403816:A90T;ENSP00000385414:A90T;ENSP00000384452:A90T;ENSP00000399760:A90T	ENSP00000335481:A90T	A	+	1	0	EMID1	27941568	0.018000	0.18449	0.125000	0.21846	0.686000	0.39977	0.496000	0.22499	0.279000	0.22186	-0.448000	0.05591	GCC		0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		14	26	0	0	0	1	0	14	26				
LGR5	8549	broad.mit.edu	37	12	71977912	71977912	+	Missense_Mutation	SNP	G	G	A	rs575136590		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71977912G>A	ENST00000266674.5	+	18	2433	c.2122G>A	c.(2122-2124)Gcc>Acc	p.A708T	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.A636T|LGR5_ENST00000540815.2_Missense_Mutation_p.A684T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	708					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A708T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAAGTATGGCGCCTCCCCTCT	0.552													g|||	1	0.000199681	0.0	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.001					ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.A708T(1)	endometrium(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2122-2124)Gcc>Acc		leucine-rich repeat containing G protein-coupled receptor 5							136.0	135.0	136.0					12																	71977912		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977912G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2122G>A	12.37:g.71977912G>A	ENSP00000266674:p.Ala708Thr					LGR5_ENST00000540815.2_Missense_Mutation_p.A684T|LGR5_ENST00000536515.1_Missense_Mutation_p.A636T	p.A708T			O75473	LGR5_HUMAN			18	2433	+			708					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2122G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	g	9.745	1.165961	0.21538	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.87491	-2.26;-2.26;-2.26	5.85	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.520709	0.18848	N	0.129498	T	0.77018	0.4069	N	0.12746	0.255	0.22531	N	0.999018	B;B	0.29085	0.051;0.232	B;B	0.34301	0.027;0.179	T	0.66674	-0.5864	10	0.39692	T	0.17	.	9.9882	0.41854	0.2049:0.0:0.7951:0.0	.	684;708	O75473-2;O75473	.;LGR5_HUMAN	T	708;708;636;684	ENSP00000266674:A708T;ENSP00000443033:A636T;ENSP00000441035:A684T	ENSP00000266674:A708T	A	+	1	0	LGR5	70264179	0.424000	0.25490	0.570000	0.28473	0.214000	0.24535	2.252000	0.43196	0.842000	0.35045	-0.119000	0.15052	GCC		0.552	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		61	70	0	0	0	1	0	61	70				
USH2A	7399	broad.mit.edu	37	1	216062234	216062234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216062234G>A	ENST00000307340.3	-	41	8143	c.7757C>T	c.(7756-7758)aCa>aTa	p.T2586I	USH2A_ENST00000366943.2_Missense_Mutation_p.T2586I|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2586	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCATCACTGTGCAATTAGT	0.423										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7756-7758)aCa>aTa		Usher syndrome 2A (autosomal recessive, mild)							148.0	142.0	144.0					1																	216062234		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062234G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7757C>T	1.37:g.216062234G>A	ENSP00000305941:p.Thr2586Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2586I|RP5-1111A8.3_ENST00000414995.1_RNA	p.T2586I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8143	-			2586			Fibronectin type-III 12.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7757C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113228	0.37339	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	T	0.70211	0.3198	M	0.70595	2.14	0.33687	D	0.612877	D	0.61080	0.989	P	0.59357	0.856	T	0.74601	-0.3611	10	0.27082	T	0.32	.	14.6738	0.68964	0.0688:0.0:0.9312:0.0	.	2586	O75445	USH2A_HUMAN	I	2586	ENSP00000305941:T2586I;ENSP00000355910:T2586I	ENSP00000305941:T2586I	T	-	2	0	USH2A	214128857	0.990000	0.36364	0.180000	0.23079	0.779000	0.44077	2.208000	0.42797	2.861000	0.98227	0.655000	0.94253	ACA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		40	49	0	0	0	1	0	40	49				
LAMB2	3913	broad.mit.edu	37	3	49159636	49159636	+	Missense_Mutation	SNP	G	G	A	rs374187759		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49159636G>A	ENST00000418109.1	-	29	4905	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1581C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1581	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGGCACGACGCACATCTCCT	0.607																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4741-4743)Cgt>Tgt		laminin, beta 2 (laminin S)		G	CYS/ARG	0,4406		0,0,2203	66.0	61.0	63.0		4741	5.5	1.0	3		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB2	NM_002292.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1581/1799	49159636	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159636G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4741C>T	3.37:g.49159636G>A	ENSP00000388325:p.Arg1581Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1581C	p.R1581C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4905	-			1581			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4741C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640412	0.87859	0.0	1.16E-4	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35973	1.28;1.28	5.54	5.54	0.83059	.	0.052753	0.85682	D	0.000000	T	0.52338	0.1728	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	P	0.54210	0.745	T	0.52939	-0.8508	10	0.56958	D	0.05	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	1581	P55268	LAMB2_HUMAN	C	1581	ENSP00000388325:R1581C;ENSP00000307156:R1581C	ENSP00000307156:R1581C	R	-	1	0	LAMB2	49134640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.433000	0.66520	2.615000	0.88500	0.650000	0.86243	CGT		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		12	21	0	0	0	1	0	12	21				
SMTN	6525	broad.mit.edu	37	22	31489822	31489822	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31489822G>A	ENST00000347557.2	+	12	1850				SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000404574.1_Missense_Mutation_p.R130H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTCAGCACCCGCCGCCGCTCC	0.687																																						ENST00000404574.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(388-390)cGc>cAc		smoothelin							9.0	9.0	9.0					22																	31489822		868	1979	2847	SO:0001627	intron_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31489822G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1633-1467G>A	22.37:g.31489822G>A						SMTN_ENST00000333137.7_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000358743.1_Intron	p.R130H			P53814	SMTN_HUMAN			1	479	+			533					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.389G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374352	0.82573	.	.	ENSG00000183963	ENST00000404496;ENST00000404574	D	0.93953	-3.32	4.74	4.74	0.60224	.	.	.	.	.	D	0.91908	0.7438	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.997	P;B;P	0.54965	0.765;0.412;0.765	D	0.93403	0.6762	9	0.87932	D	0	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	616;130;554	B4E229;B5MCI0;B5MC56	.;.;.	H	554;130	ENSP00000383919:R130H	ENSP00000385094:R554H	R	+	2	0	SMTN	29819822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.965000	0.40471	2.372000	0.80975	0.462000	0.41574	CGC		0.687	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		3	12	0	0	0	1	0	3	12				
TRIM33	51592	broad.mit.edu	37	1	114948128	114948128	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114948128G>A	ENST00000358465.2	-	15	2755	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.A891V|TRIM33_ENST00000450349.2_Missense_Mutation_p.A523V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	891					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGCAGACAGCACACCAGTC	0.453			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2671-2673)gCt>gTt		tripartite motif containing 33							279.0	244.0	255.0					1																	114948128		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114948128G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2672C>T	1.37:g.114948128G>A	ENSP00000351250:p.Ala891Val					TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.A891V|TRIM33_ENST00000450349.2_Missense_Mutation_p.A523V	p.A891V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2755	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	891					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2672C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825737	0.90955	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	D;D;D	0.84800	-1.9;-1.9;-1.9	5.32	5.32	0.75619	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88819	0.6540	L	0.43757	1.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.941;0.995;0.97	D	0.89655	0.3872	10	0.87932	D	0	-10.8646	19.3509	0.94384	0.0:0.0:1.0:0.0	.	523;523;86;891;891	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	V	891;891;523	ENSP00000351250:A891V;ENSP00000358556:A891V;ENSP00000412077:A523V	ENSP00000351250:A891V	A	-	2	0	TRIM33	114749651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.790000	0.85794	2.644000	0.89710	0.491000	0.48974	GCT		0.453	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		60	73	0	0	0	1	0	60	73				
CHIT1	1118	broad.mit.edu	37	1	203186921	203186921	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203186921A>T	ENST00000367229.1	-	10	1136	c.1102T>A	c.(1102-1104)Ttc>Atc	p.F368I	CHIT1_ENST00000255427.3_Missense_Mutation_p.F349I|CHIT1_ENST00000535569.1_Missense_Mutation_p.F359I|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	368					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGCAGGAGAAGCCGGCAAAG	0.602																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1102-1104)Ttc>Atc		chitinase 1 (chitotriosidase)							69.0	60.0	63.0					1																	203186921		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186921A>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1102T>A	1.37:g.203186921A>T	ENSP00000356198:p.Phe368Ile					CHIT1_ENST00000255427.3_Missense_Mutation_p.F349I|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.F359I	p.F368I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			10	1136	-			368					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.1102T>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	A	6.745	0.506186	0.12883	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.34859	1.34;1.34;1.34	4.84	0.883	0.19177	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.675180	0.12867	N	0.432656	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.17561	-1.0365	10	0.36615	T	0.2	-8.5191	1.6451	0.02760	0.5201:0.1405:0.0892:0.2502	.	359;368	G5EA51;Q13231	.;CHIT1_HUMAN	I	368;349;359	ENSP00000356198:F368I;ENSP00000255427:F349I;ENSP00000438078:F359I	ENSP00000255427:F349I	F	-	1	0	CHIT1	201453544	0.000000	0.05858	0.259000	0.24435	0.003000	0.03518	-0.209000	0.09358	0.288000	0.22398	-0.313000	0.08912	TTC		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		9	12	0	0	0	1	0	9	12				
SLC3A1	6519	broad.mit.edu	37	2	44541157	44541157	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44541157C>T	ENST00000260649.6	+	9	1693				SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000409294.1_Missense_Mutation_p.H182Y|SLC3A1_ENST00000409740.3_Intron|SLC3A1_ENST00000409229.3_Missense_Mutation_p.H562Y|SLC3A1_ENST00000409380.1_Intron	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TGAAAGTACACACTCACCCTG	0.343																																						ENST00000409229.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1684-1686)Cac>Tac		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)																																			SO:0001627	intron_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44541157C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1617+67C>T	2.37:g.44541157C>T						SLC3A1_ENST00000409294.1_Missense_Mutation_p.H182Y|SLC3A1_ENST00000409740.3_Intron|SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000260649.6_Intron	p.H562Y			Q07837	SLC31_HUMAN			9	1684	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	0					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1684C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805364	0.16467	.	.	ENSG00000138079	ENST00000409229;ENST00000409294	D;D	0.99541	-6.12;-4.73	2.9	-5.81	0.02340	.	.	.	.	.	D	0.96753	0.8940	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.94792	0.7963	7	.	.	.	.	2.4947	0.04619	0.1367:0.1885:0.1355:0.5393	.	562	Q4J6B5	.	Y	562;182	ENSP00000386620:H562Y;ENSP00000386852:H182Y	.	H	+	1	0	SLC3A1	44394661	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-1.300000	0.02751	-1.881000	0.01123	0.557000	0.71058	CAC		0.343	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		6	10	0	0	0	1	0	6	10				
GNPDA1	10007	broad.mit.edu	37	5	141384537	141384537	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141384537G>A	ENST00000508177.1	-	4	1312	c.554C>T	c.(553-555)gCc>gTc	p.A185V	GNPDA1_ENST00000542860.1_Missense_Mutation_p.A108V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A185V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A151V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A185V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A185V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	185					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCAAGGCCATGGTGGG	0.562																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(553-555)gCc>gTc		glucosamine-6-phosphate deaminase 1							43.0	39.0	40.0					5																	141384537		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384537G>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.554C>T	5.37:g.141384537G>A	ENSP00000423674:p.Ala185Val					GNPDA1_ENST00000513454.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A185V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A185V|GNPDA1_ENST00000542860.1_Missense_Mutation_p.A108V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A185V|GNPDA1_ENST00000458112.2_Missense_Mutation_p.A151V	p.A185V			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1312	-		all_hematologic(541;0.118)	185					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.554C>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600091	0.96614	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000505689	T;T;T;T;T;T;T;T	0.56776	0.95;0.95;0.95;0.95;0.95;0.95;0.44;0.95	5.84	5.84	0.93424	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.83692	2.655	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.71414	0.973;0.9	T	0.78588	-0.2146	10	0.87932	D	0	-23.1858	20.1187	0.97949	0.0:0.0:1.0:0.0	.	151;185	E7EVU7;P46926	.;GNPI1_HUMAN	V	185;185;151;185;185;185;108;206	ENSP00000423494:A185V;ENSP00000311876:A185V;ENSP00000387718:A151V;ENSP00000424275:A185V;ENSP00000423674:A185V;ENSP00000423485:A185V;ENSP00000445143:A108V;ENSP00000421524:A206V	ENSP00000311876:A185V	A	-	2	0	GNPDA1	141364721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.767000	0.95098	0.591000	0.81541	GCC		0.562	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		8	2	0	0	0	1	0	8	2				
C19orf66	55337	broad.mit.edu	37	19	10200616	10200616	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10200616C>T	ENST00000253110.11	+	5	575	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	C19orf66_ENST00000397881.3_Missense_Mutation_p.R42C|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Missense_Mutation_p.R93C	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	93										large_intestine(3)|skin(1)	4						AGCCAACCTACGCATGTTTCA	0.647																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(124-126)Cgc>Tgc		chromosome 19 open reading frame 66							48.0	49.0	49.0					19																	10200616		2178	4277	6455	SO:0001583	missense	55337							g.chr19:10200616C>T		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.277C>T	19.37:g.10200616C>T	ENSP00000253110:p.Arg93Cys					C19orf66_ENST00000591813.1_Missense_Mutation_p.R93C|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Missense_Mutation_p.R93C	p.R42C			Q9NUL5	CS066_HUMAN			5	601	+			93					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	c.124C>T	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465753	0.63513	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	4.21	4.21	0.49690	.	0.242758	0.25063	N	0.033435	T	0.62925	0.2468	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.67780	-0.5582	9	0.87932	D	0	-24.7659	13.5867	0.61935	0.0:1.0:0.0:0.0	.	42;93;93	Q9NUL5-2;Q9NUL5-4;Q9NUL5	.;.;CS066_HUMAN	C	93;42	.	ENSP00000253110:R93C	R	+	1	0	C19orf66	10061616	0.991000	0.36638	0.967000	0.41034	0.867000	0.49689	3.104000	0.50306	2.183000	0.69458	0.561000	0.74099	CGC		0.647	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		5	9	0	0	0	1	0	5	9				
TGM5	9333	broad.mit.edu	37	15	43544999	43544999	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43544999G>A	ENST00000220420.5	-	6	827	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TGM5_ENST00000349114.4_Missense_Mutation_p.R192C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	274					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGCCCGTAGCGCACGGGCTGG	0.582																																						ENST00000220420.5																			1	Substitution - Missense(1)	p.R274C(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(820-822)Cgc>Tgc		transglutaminase 5	L-Glutamine(DB00130)						76.0	73.0	74.0					15																	43544999		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544999G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.820C>T	15.37:g.43544999G>A	ENSP00000220420:p.Arg274Cys					TGM5_ENST00000349114.4_Missense_Mutation_p.R192C	p.R274C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	827	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	274					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.820C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334291	0.41297	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.57595	0.39;0.39	4.88	1.2	0.21068	Transglutaminase-like (2);	0.146541	0.40064	N	0.001190	T	0.58538	0.2129	L	0.53729	1.69	0.40067	D	0.975968	D;D	0.89917	1.0;0.997	D;P	0.64042	0.921;0.873	T	0.58901	-0.7554	10	0.87932	D	0	-8.2033	5.8747	0.18822	0.098:0.0:0.4086:0.4934	.	192;274	O43548-2;O43548	.;TGM5_HUMAN	C	274;192;273	ENSP00000220420:R274C;ENSP00000220419:R192C	ENSP00000220420:R274C	R	-	1	0	TGM5	41332291	0.043000	0.20138	0.927000	0.36925	0.057000	0.15508	1.149000	0.31626	0.525000	0.28522	0.655000	0.94253	CGC		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		27	28	0	0	0	1	0	27	28				
HSPA4L	22824	broad.mit.edu	37	4	128748471	128748471	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128748471G>A	ENST00000296464.4	+	17	2469	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	HSPA4L_ENST00000505726.1_Silent_p.Q660Q|HSPA4L_ENST00000508776.1_Silent_p.Q686Q|HSPA4L_ENST00000439123.2_Silent_p.Q717Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	686					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AATACGGCCAGCCTATTCAAA	0.318																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2056-2058)caG>caA		heat shock 70kDa protein 4-like							83.0	83.0	83.0					4																	128748471		2203	4300	6503	SO:0001819	synonymous_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128748471G>A	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2058G>A	4.37:g.128748471G>A						HSPA4L_ENST00000505726.1_Silent_p.Q660Q|HSPA4L_ENST00000439123.2_Silent_p.Q717Q|HSPA4L_ENST00000508776.1_Silent_p.Q686Q	p.Q686Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			17	2469	+			686					A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	c.2058G>A	CCDS3734.1																																																																																				0.318	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		21	39	0	0	0	1	0	21	39				
FLG2	388698	broad.mit.edu	37	1	152327725	152327725	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152327725C>T	ENST00000388718.5	-	3	2609	c.2537G>A	c.(2536-2538)gGc>gAc	p.G846D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	846	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATGTTGGCCATAGCTGGA	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2536-2538)gGc>gAc		filaggrin family member 2							350.0	328.0	335.0					1																	152327725		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327725C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2537G>A	1.37:g.152327725C>T	ENSP00000373370:p.Gly846Asp					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G846D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2609	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		846			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2537G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700039	0.30142	.	.	ENSG00000143520	ENST00000388718	T	0.26223	1.75	3.69	2.75	0.32379	.	.	.	.	.	T	0.25568	0.0622	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.04307	-1.0961	9	0.30854	T	0.27	-3.8054	6.5287	0.22314	0.0:0.7608:0.0:0.2392	.	846	Q5D862	FILA2_HUMAN	D	846	ENSP00000373370:G846D	ENSP00000373370:G846D	G	-	2	0	FLG2	150594349	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.740000	0.26188	1.583000	0.49898	0.650000	0.86243	GGC		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		126	180	0	0	0	1	0	126	180				
PDE6B	5158	broad.mit.edu	37	4	628555	628555	+	Silent	SNP	C	C	T	rs371920663		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:628555C>T	ENST00000496514.1	+	2	579	c.558C>T	c.(556-558)gtC>gtT	p.V186V	PDE6B_ENST00000255622.6_Silent_p.V186V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	186	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCAAAGACGTCGTGGCGGTGA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19974	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(556-558)gtC>gtT		phosphodiesterase 6B, cGMP-specific, rod, beta		C	,	1,4405	2.1+/-5.4	0,1,2202	151.0	119.0	130.0		558,558	-9.0	0.0	4		130	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	186/855,186/854	628555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:628555C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.558C>T	4.37:g.628555C>T						PDE6B_ENST00000496514.1_Silent_p.V186V	p.V186V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			2	601	+			186			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.558C>T	CCDS33932.1																																																																																				0.562	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		18	29	0	0	0	1	0	18	29				
PSMB11	122706	broad.mit.edu	37	14	23512147	23512147	+	Missense_Mutation	SNP	G	G	A	rs181637075	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23512147G>A	ENST00000408907.2	+	1	772	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CATGTGTCACGCAGTGATGCC	0.632													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18973	0.0		0.0	False		,,,				2504	0.0					ENST00000408907.2																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(712-714)cGc>cAc		proteasome (prosome, macropain) subunit, beta type, 11		G	HIS/ARG	5,4359		0,5,2177	40.0	44.0	43.0		713	4.7	0.8	14		43	0,8574		0,0,4287	yes	missense	PSMB11	NM_001099780.1	29	0,5,6464	AA,AG,GG		0.0,0.1146,0.0386	probably-damaging	238/301	23512147	5,12933	2182	4287	6469	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512147G>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.713G>A	14.37:g.23512147G>A	ENSP00000386212:p.Arg238His						p.R238H	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	772	+	all_cancers(95;3.3e-05)		238						Missense_Mutation	SNP	ENST00000408907.2	37	c.713G>A	CCDS41923.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.32	2.499555	0.44455	0.001146	0.0	ENSG00000222028	ENST00000408907	T	0.34275	1.37	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	N	0.19112	0.55	0.26648	N	0.972153	D	0.89917	1.0	D	0.71656	0.974	T	0.34725	-0.9817	10	0.49607	T	0.09	-23.2184	14.6691	0.68932	0.0:0.0:1.0:0.0	.	238	A5LHX3	PSB11_HUMAN	H	238	ENSP00000386212:R238H	ENSP00000386212:R238H	R	+	2	0	PSMB11	22581987	0.003000	0.15002	0.803000	0.32268	0.324000	0.28378	1.345000	0.33953	2.189000	0.69895	0.561000	0.74099	CGC		0.632	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		20	16	0	0	0	1	0	20	16				
MAD1L1	8379	broad.mit.edu	37	7	2020131	2020131	+	Missense_Mutation	SNP	C	C	T	rs551569137		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2020131C>T	ENST00000406869.1	-	15	2019	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.E488K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E396K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E488K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	488	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AAGCTCTGTTCGGCAGAGCTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.001					ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1462-1464)Gaa>Aaa		MAD1 mitotic arrest deficient-like 1 (yeast)							31.0	35.0	34.0					7																	2020131		2026	4168	6194	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2020131C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1462G>A	7.37:g.2020131C>T	ENSP00000385334:p.Glu488Lys					MAD1L1_ENST00000265854.7_Missense_Mutation_p.E488K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E396K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E488K	p.E488K			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	15	2019	-		Ovarian(82;0.0272)	488			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1462G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404236	0.25378	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959;ENST00000444373	T;T;T;T;T;D;T	0.82167	1.79;1.79;1.79;1.79;1.79;-1.58;1.79	5.09	4.2	0.49525	.	0.395967	0.29868	N	0.010989	T	0.66665	0.2812	L	0.38838	1.175	0.09310	N	1	P;B;B	0.35077	0.483;0.294;0.22	B;B;B	0.24541	0.054;0.033;0.023	T	0.55379	-0.8150	10	0.07813	T	0.8	-14.4225	8.4982	0.33141	0.0:0.8956:0.0:0.1044	.	487;396;488	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	K	396;488;488;39;488;39;155;78	ENSP00000384155:E396K;ENSP00000382562:E488K;ENSP00000385334:E488K;ENSP00000265854:E488K;ENSP00000394886:E39K;ENSP00000414877:E155K;ENSP00000393037:E78K	ENSP00000265854:E488K	E	-	1	0	MAD1L1	1986657	0.122000	0.22280	0.037000	0.18230	0.050000	0.14768	3.025000	0.49681	2.368000	0.80403	0.655000	0.94253	GAA		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	12	0	0	0	1	0	8	12				
IGLV2-8	28817	broad.mit.edu	37	22	23165570	23165570	+	RNA	SNP	C	C	T	rs545095292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23165570C>T	ENST00000390317.2	+	0	303				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CCAGCAGTGACGTTGGTGGTT	0.587													c|||	1	0.000199681	0.0	0.0	5008	,	,		15408	0.0		0.0	False		,,,				2504	0.001					ENST00000390317.2																			0																				211.0	217.0	215.0					22																	23165570		2018	4160	6178			0							g.chr22:23165570C>T	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165570C>T														0	303	+									RNA	SNP	ENST00000390317.2	37																																																																																						0.587	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		7	240	0	0	0	1	0	7	240				
SLC35D1	23169	broad.mit.edu	37	1	67507943	67507943	+	Silent	SNP	C	C	T	rs142750829	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67507943C>T	ENST00000235345.5	-	8	790	c.705G>A	c.(703-705)gcG>gcA	p.A235A	SLC35D1_ENST00000506472.2_Silent_p.A156A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	235					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CTGTGAAATACGCAATGGCCA	0.388																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(703-705)gcG>gcA		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)	C		0,4406		0,0,2203	255.0	245.0	249.0		705	-11.3	0.4	1	dbSNP_134	249	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35D1	NM_015139.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		235/356	67507943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67507943C>T	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.705G>A	1.37:g.67507943C>T						SLC35D1_ENST00000506472.2_Silent_p.A156A	p.A235A	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			8	790	-			235					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.705G>A	CCDS636.1																																																																																				0.388	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		49	84	0	0	0	1	0	49	84				
NEB	4703	broad.mit.edu	37	2	152490260	152490260	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152490260C>T	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Missense_Mutation_p.V3108M|NEB_ENST00000427231.2_Missense_Mutation_p.V3108M|NEB_ENST00000397345.3_Missense_Mutation_p.V3108M|NEB_ENST00000604864.1_Missense_Mutation_p.V3108M|NEB_ENST00000409198.1_Intron			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATAGTCCACGTCACTGACT	0.542																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9322-9324)Gtg>Atg		nebulin							199.0	158.0	171.0					2																	152490260		692	1591	2283	SO:0001627	intron_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152490260C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8890-2927G>A	2.37:g.152490260C>T						NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.V3108M|NEB_ENST00000603639.1_Missense_Mutation_p.V3108M|NEB_ENST00000397345.3_Missense_Mutation_p.V3108M	p.V3108M	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	65	9524	-			3108					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9322G>A		.	.	.	.	.	.	.	.	.	.	C	14.06	2.422478	0.43020	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.32753	1.44;1.44	6.02	-4.64	0.03349	.	.	.	.	.	T	0.44912	0.1316	M	0.75777	2.31	0.09310	N	1	.	.	.	.	.	.	T	0.56183	-0.8021	7	0.62326	D	0.03	.	15.9	0.79365	0.0:0.2562:0.0:0.7438	.	.	.	.	M	3108	ENSP00000380505:V3108M;ENSP00000416578:V3108M	ENSP00000380505:V3108M	V	-	1	0	NEB	152198506	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-2.702000	0.00823	-0.744000	0.04778	0.650000	0.86243	GTG		0.542	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		60	93	0	0	0	1	0	60	93				
IQCH	64799	broad.mit.edu	37	15	67768131	67768131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:67768131C>T	ENST00000335894.4	+	18	2840	c.2774C>T	c.(2773-2775)gCc>gTc	p.A925V	IQCH_ENST00000358767.3_Missense_Mutation_p.A661V|IQCH_ENST00000546225.1_Missense_Mutation_p.A582V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.A586V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	925										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATCTGTAGGGCCCATGGCATT	0.498																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2773-2775)gCc>gTc		IQ motif containing H							143.0	116.0	125.0					15																	67768131		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67768131C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2774C>T	15.37:g.67768131C>T	ENSP00000336861:p.Ala925Val					IQCH_ENST00000358767.3_Missense_Mutation_p.A661V|IQCH_ENST00000360277.4_Missense_Mutation_p.A586V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.A582V	p.A925V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2840	+			925					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2774C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482557	0.84747	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.48201	0.82;2.57;2.57;0.82	5.95	4.98	0.66077	.	0.179571	0.47852	D	0.000202	T	0.61098	0.2320	M	0.68317	2.08	0.44261	D	0.997114	D;D;P	0.58268	0.982;0.982;0.767	P;P;P	0.55087	0.768;0.768;0.661	T	0.64170	-0.6470	10	0.66056	D	0.02	-8.6438	16.2926	0.82758	0.0:0.8676:0.1324:0.0	.	582;586;925	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	V	661;582;925;586	ENSP00000351617:A661V;ENSP00000444118:A582V;ENSP00000336861:A925V;ENSP00000353419:A586V	ENSP00000336861:A925V	A	+	2	0	IQCH	65555185	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.040000	0.49799	2.817000	0.96982	0.563000	0.77884	GCC		0.498	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		19	32	0	0	0	1	0	19	32				
ZFYVE20	64145	broad.mit.edu	37	3	15127455	15127455	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15127455G>A	ENST00000253699.3	-	6	916	c.303C>T	c.(301-303)agC>agT	p.S101S	ZFYVE20_ENST00000476527.2_Silent_p.S101S|ZFYVE20_ENST00000435849.3_Silent_p.S101S|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	101	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CGGAAAGATGGCTTCTCACAG	0.418																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(301-303)agC>agT		zinc finger, FYVE domain containing 20							148.0	158.0	154.0					3																	15127455		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15127455G>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.303C>T	3.37:g.15127455G>A						ZFYVE20_ENST00000476527.2_Silent_p.S101S|ZFYVE20_ENST00000435849.3_Silent_p.S101S|ZFYVE20_ENST00000449964.2_5'UTR	p.S101S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			6	916	-			101			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.303C>T	CCDS2623.1																																																																																				0.418	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		36	127	0	0	0	1	0	36	127				
FNDC3A	22862	broad.mit.edu	37	13	49772313	49772313	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49772313A>G	ENST00000492622.2	+	22	2991	c.2686A>G	c.(2686-2688)Agc>Ggc	p.S896G	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S840G|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S896G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	896	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTTGCCTACAGCATAGACTT	0.388																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2686-2688)Agc>Ggc		fibronectin type III domain containing 3A							134.0	128.0	130.0					13																	49772313		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772313A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2686A>G	13.37:g.49772313A>G	ENSP00000417257:p.Ser896Gly					FNDC3A_ENST00000541916.1_Missense_Mutation_p.S896G|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S840G	p.S896G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	2991	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	896			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2686A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942111	0.34283	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58797	0.31;0.31;0.31	5.74	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.73962	2.25	0.39001	D	0.959356	B;B	0.33904	0.431;0.192	B;B	0.38880	0.284;0.065	T	0.57596	-0.7784	10	0.27082	T	0.32	-13.56	11.2449	0.48991	0.8556:0.0:0.0:0.1443	.	840;896	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	G	896;832;896;840	ENSP00000417257:S896G;ENSP00000441831:S896G;ENSP00000381362:S840G	ENSP00000338579:S832G	S	+	1	0	FNDC3A	48670314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.129000	0.57957	0.962000	0.38057	0.528000	0.53228	AGC		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		44	51	0	0	0	1	0	44	51				
MYO7A	4647	broad.mit.edu	37	11	76905558	76905558	+	Missense_Mutation	SNP	G	G	A	rs575760892	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:76905558G>A	ENST00000409709.3	+	32	4584	c.4312G>A	c.(4312-4314)Gcc>Acc	p.A1438T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A1438T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A1427T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1438	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCCATCGCCGCCCACAAGAA	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18558	0.0		0.0	False		,,,				2504	0.002					ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4312-4314)Gcc>Acc		myosin VIIA							26.0	30.0	29.0					11																	76905558		1981	4141	6122	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76905558G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4312G>A	11.37:g.76905558G>A	ENSP00000386331:p.Ala1438Thr					MYO7A_ENST00000409619.2_Missense_Mutation_p.A1427T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1438T	p.A1438T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			32	4584	+			1438			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4312G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453039	0.63290	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.85	4.85	0.62838	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.054709	0.64402	D	0.000001	D	0.93115	0.7808	L	0.45581	1.43	0.80722	D	1	B;B;B	0.32507	0.07;0.194;0.373	B;B;B	0.31337	0.048;0.128;0.094	D	0.91859	0.5498	10	0.33141	T	0.24	.	18.3266	0.90256	0.0:0.0:1.0:0.0	.	1427;1438;1438	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1438;1438;1427;649;1437;1407;1314;619;91	ENSP00000386331:A1438T;ENSP00000392185:A1438T;ENSP00000386635:A1427T;ENSP00000417017:A619T	ENSP00000345075:A1314T	A	+	1	0	MYO7A	76583206	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	7.490000	0.81461	2.420000	0.82092	0.603000	0.83216	GCC		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	9	0	0	0	1	0	5	9				
BRD2	6046	broad.mit.edu	37	6	32946063	32946063	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32946063G>A	ENST00000374825.4	+	10	3440	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	BRD2_ENST00000395289.2_Missense_Mutation_p.R580H|BRD2_ENST00000443797.2_Missense_Mutation_p.R460H|BRD2_ENST00000395287.1_Missense_Mutation_p.R580H|BRD2_ENST00000374831.4_Missense_Mutation_p.R580H|BRD2_ENST00000449085.2_Missense_Mutation_p.R533H	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	580					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGGGCACCCCGCCCACCTCAA	0.552																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(1738-1740)cGc>cAc		bromodomain containing 2							126.0	131.0	129.0					6																	32946063		1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32946063G>A	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1739G>A	6.37:g.32946063G>A	ENSP00000363958:p.Arg580His					BRD2_ENST00000449085.2_Missense_Mutation_p.R533H|BRD2_ENST00000374825.4_Missense_Mutation_p.R580H|BRD2_ENST00000395287.1_Missense_Mutation_p.R580H|BRD2_ENST00000443797.2_Missense_Mutation_p.R460H|BRD2_ENST00000374831.4_Missense_Mutation_p.R580H	p.R580H			P25440	BRD2_HUMAN			10	3340	+			580					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.1739G>A	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.325882|2.325882	0.41197|0.41197	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.26660	.|1.72;1.72;1.72;1.72;1.72;1.72	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.51477	.|D	.|0.000095	T|T	0.10165|0.10165	0.0249|0.0249	N|N	0.19112|0.19112	0.55|0.55	0.39722|0.39722	D|D	0.971487|0.971487	.|D;D	.|0.61080	.|0.989;0.968	.|P;B	.|0.45232	.|0.474;0.105	T|T	0.02805|0.02805	-1.1108|-1.1108	5|10	.|0.42905	.|T	.|0.14	-12.0875|-12.0875	9.6776|9.6776	0.40050|0.40050	0.0918:0.0:0.9082:0.0|0.0918:0.0:0.9082:0.0	.|.	.|580;580	.|A2AAU0;P25440	.|.;BRD2_HUMAN	T|H	586|580;580;580;460;580;533	.|ENSP00000363958:R580H;ENSP00000363964:R580H;ENSP00000378704:R580H;ENSP00000413495:R460H;ENSP00000378702:R580H;ENSP00000409145:R533H	.|ENSP00000363958:R580H	A|R	+|+	1|2	0|0	BRD2|BRD2	33054041|33054041	0.154000|0.154000	0.22792|0.22792	0.972000|0.972000	0.41901|0.41901	0.715000|0.715000	0.41141|0.41141	2.900000|2.900000	0.48687|0.48687	2.717000|2.717000	0.92951|0.92951	0.549000|0.549000	0.68633|0.68633	GCC|CGC		0.552	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			26	38	0	0	0	1	0	26	38				
PIK3CD	5293	broad.mit.edu	37	1	9775775	9775775	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9775775C>T	ENST00000377346.4	+	4	513	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PIK3CD_ENST00000536656.1_Silent_p.G106G|PIK3CD_ENST00000361110.2_Silent_p.G106G|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	106					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCGTGAGGGCGACCGCGTGA	0.662																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(316-318)ggC>ggT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							70.0	69.0	69.0					1																	9775775		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775775C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.318C>T	1.37:g.9775775C>T						PIK3CD_ENST00000361110.2_Silent_p.G106G|PIK3CD_ENST00000377346.4_Silent_p.G106G	p.G106G			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	526	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	106					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.318C>T	CCDS104.1																																																																																				0.662	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	43	0	0	0	1	0	10	43				
RUNX2	860	broad.mit.edu	37	6	45459744	45459744	+	Missense_Mutation	SNP	G	G	A	rs376891808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:45459744G>A	ENST00000371438.1	+	5	1110	c.752G>A	c.(751-753)cGc>cAc	p.R251H	RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H|RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	251	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATTTAGGGCGCATTCCTCAT	0.473																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(751-753)cGc>cAc		runt-related transcription factor 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	429.0	333.0	365.0		752,752,710	6.0	1.0	6		365	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_001015051.3,NM_001024630.3,NM_004348.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	251/500,251/522,237/508	45459744	1,13005	2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459744G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.752G>A	6.37:g.45459744G>A	ENSP00000360493:p.Arg251His					RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H	p.R251H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1110	+			251			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.752G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914917	0.92178	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.97066	-4.22;-4.23;-4.23;-4.22;-4.22;-4.22;-4.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	L	0.49640	1.575	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.939	D;D;P	0.83275	0.996;0.978;0.572	D	0.96883	0.9647	10	0.41790	T	0.15	-8.9331	20.5666	0.99351	0.0:0.0:1.0:0.0	.	319;251;237	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	251;319;319;251;251;237;237	ENSP00000420707:R251H;ENSP00000319087:R319H;ENSP00000446290:R319H;ENSP00000360493:R251H;ENSP00000360491:R251H;ENSP00000352514:R237H;ENSP00000360486:R237H	ENSP00000319087:R319H	R	+	2	0	RUNX2	45567722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.076000	0.94009	2.854000	0.98071	0.655000	0.94253	CGC		0.473	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		52	100	0	0	0	1	0	52	100				
ETV4	2118	broad.mit.edu	37	17	41610182	41610182	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41610182C>T	ENST00000319349.5	-	8	969	c.671G>A	c.(670-672)aGc>aAc	p.S224N	ETV4_ENST00000538265.1_Missense_Mutation_p.S185N|ETV4_ENST00000545089.1_Missense_Mutation_p.S170N|ETV4_ENST00000393664.2_Missense_Mutation_p.S224N|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Missense_Mutation_p.S224N|ETV4_ENST00000545954.1_Missense_Mutation_p.S185N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	224	Gln-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S224I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TTGCTTAAAGCTCTGCTGGGG	0.637			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	1	Substitution - Missense(1)	p.S224I(1)	large_intestine(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(670-672)aGc>aAc		ets variant 4							46.0	51.0	49.0					17																	41610182		2202	4300	6502	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610182C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.671G>A	17.37:g.41610182C>T	ENSP00000321835:p.Ser224Asn					ETV4_ENST00000393664.2_Missense_Mutation_p.S224N|ETV4_ENST00000545954.1_Missense_Mutation_p.S185N|ETV4_ENST00000591713.1_Missense_Mutation_p.S224N|ETV4_ENST00000545089.1_Missense_Mutation_p.S170N|ETV4_ENST00000538265.1_Missense_Mutation_p.S185N	p.S224N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	8	969	-		Breast(137;0.00908)	224			Gln-rich.		A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.671G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542906	0.45280	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.69	1.06	0.20224	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.371953	0.30547	N	0.009387	T	0.16257	0.0391	L	0.31926	0.97	0.25885	N	0.983542	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.16276	-1.0408	10	0.34782	T	0.22	.	8.0476	0.30559	0.0:0.6871:0.1144:0.1985	.	170;185;224	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	N	224;224;185;185;170	ENSP00000321835:S224N;ENSP00000377273:S224N;ENSP00000443846:S185N;ENSP00000440023:S185N;ENSP00000441749:S170N	ENSP00000321835:S224N	S	-	2	0	ETV4	38965708	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.477000	0.35431	0.735000	0.32537	0.549000	0.68633	AGC		0.637	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		15	27	0	0	0	1	0	15	27				
NTSR2	23620	broad.mit.edu	37	2	11798758	11798758	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11798758G>A	ENST00000306928.5	-	4	1114	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	360					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGGAGGACACGGCGTTGTAGA	0.537																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(1078-1080)gcC>gcT		neurotensin receptor 2	Levocabastine(DB01106)						94.0	94.0	94.0					2																	11798758		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11798758G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1080C>T	2.37:g.11798758G>A							p.A360A	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	4	1114	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		360					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.1080C>T	CCDS1681.1																																																																																				0.537	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			3	36	0	0	0	1	0	3	36				
ALOX12	239	broad.mit.edu	37	17	6902685	6902685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6902685C>T	ENST00000251535.6	+	6	760	c.707C>T	c.(706-708)gCc>gTc	p.A236V	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	236	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTCAATGGTGCCAACCCCATG	0.552																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(706-708)gCc>gTc		arachidonate 12-lipoxygenase							181.0	141.0	154.0					17																	6902685		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902685C>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.707C>T	17.37:g.6902685C>T	ENSP00000251535:p.Ala236Val					AC027763.2_ENST00000574377.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	p.A236V	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			6	760	+			236			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.707C>T	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568432	0.45798	.	.	ENSG00000108839	ENST00000251535	T	0.74947	-0.89	5.13	3.15	0.36227	Lipoxygenase, C-terminal (3);	0.556579	0.20191	N	0.097307	T	0.51991	0.1707	N	0.21194	0.64	0.31116	N	0.709454	B	0.19706	0.038	B	0.20767	0.031	T	0.45948	-0.9226	10	0.06236	T	0.91	-2.565	6.1206	0.20151	0.0:0.7231:0.0:0.2769	.	236	P18054	LOX12_HUMAN	V	236	ENSP00000251535:A236V	ENSP00000251535:A236V	A	+	2	0	ALOX12	6843409	0.000000	0.05858	0.880000	0.34516	0.937000	0.57800	-0.024000	0.12435	1.533000	0.49186	0.643000	0.83706	GCC		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			5	37	0	0	0	1	0	5	37				
GLI2	2736	broad.mit.edu	37	2	121746949	121746949	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:121746949C>T	ENST00000452319.1	+	14	3519	c.3459C>T	c.(3457-3459)acC>acT	p.T1153T	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.T1153T					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTCCGGCACCGTAGACGCCC	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3457-3459)acC>acT		GLI family zinc finger 2							27.0	25.0	26.0					2																	121746949		2177	4254	6431	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746949C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3459C>T	2.37:g.121746949C>T						GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.T1153T	p.T1153T			P10070	GLI2_HUMAN			14	3519	+	Renal(3;0.0496)	Prostate(154;0.0623)	1153						Silent	SNP	ENST00000452319.1	37	c.3459C>T	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		13	17	0	0	0	1	0	13	17				
LRP12	29967	broad.mit.edu	37	8	105503410	105503410	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105503410C>T	ENST00000276654.5	-	7	2179	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.A672T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	691					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCACATGCTCCTACTGTC	0.517																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2071-2073)Gca>Aca		low density lipoprotein receptor-related protein 12							97.0	83.0	88.0					8																	105503410		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503410C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2071G>A	8.37:g.105503410C>T	ENSP00000276654:p.Ala691Thr					LRP12_ENST00000424843.2_Missense_Mutation_p.A672T|LRP12_ENST00000518375.1_5'UTR	p.A691T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2179	-			691					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2071G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745160	0.30955	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83755	-1.76;-1.7	5.49	3.68	0.42216	.	0.265106	0.43919	N	0.000517	T	0.69611	0.3130	N	0.19112	0.55	0.37144	D	0.901861	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64093	-0.6488	10	0.29301	T	0.29	-13.3034	10.6163	0.45451	0.1334:0.7978:0.0:0.0688	.	672;691	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	672;691;56	ENSP00000399148:A672T;ENSP00000276654:A691T	ENSP00000276654:A691T	A	-	1	0	LRP12	105572586	0.519000	0.26242	0.795000	0.32087	0.720000	0.41350	1.544000	0.36158	0.780000	0.33566	0.650000	0.86243	GCA		0.517	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		18	31	0	0	0	1	0	18	31				
RAB24	53917	broad.mit.edu	37	5	176729462	176729462	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176729462G>A	ENST00000303251.6	-	5	788	c.369C>T	c.(367-369)gaC>gaT	p.D123D	RAB24_ENST00000393611.2_Silent_p.D123D|PRELID1_ENST00000303204.4_5'Flank|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Silent_p.D94D	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	123					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCAGCAGGTCACTCTTGG	0.577																																						ENST00000303270.6																			0											c.(280-282)gaC>gaT		RAB24, member RAS oncogene family							113.0	118.0	116.0					5																	176729462		2203	4300	6503	SO:0001819	synonymous_variant	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176729462G>A	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.369C>T	5.37:g.176729462G>A						RAB24_ENST00000303251.6_Silent_p.D123D|RAB24_ENST00000393611.2_Silent_p.D123D	p.D94D			Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	884	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	123					Q7Z4Z7	Silent	SNP	ENST00000303251.6	37	c.282C>T	CCDS34300.1																																																																																				0.577	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		27	59	0	0	0	1	0	27	59				
RIPK1	8737	broad.mit.edu	37	6	3085632	3085632	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:3085632G>A	ENST00000259808.4	+	6	1126	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P230P|RIPK1_ENST00000380409.2_Silent_p.P276P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGCTCGGCCGACATTTCCTG	0.468																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(826-828)ccG>ccA		receptor (TNFRSF)-interacting serine-threonine kinase 1							74.0	71.0	72.0					6																	3085632		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3085632G>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.828G>A	6.37:g.3085632G>A						RIPK1_ENST00000541791.1_Silent_p.P230P|RIPK1_ENST00000380409.2_Silent_p.P276P|RIPK1_ENST00000479389.1_3'UTR	p.P276P			Q13546	RIPK1_HUMAN			6	1126	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	276			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.828G>A	CCDS4482.1																																																																																				0.468	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		12	17	0	0	0	1	0	12	17				
STAT6	6778	broad.mit.edu	37	12	57496631	57496631	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57496631T>C	ENST00000300134.3	-	12	1611	c.1286A>G	c.(1285-1287)gAc>gGc	p.D429G	STAT6_ENST00000556155.1_Missense_Mutation_p.D429G|STAT6_ENST00000538913.2_Missense_Mutation_p.D319G|STAT6_ENST00000543873.2_Missense_Mutation_p.D429G|STAT6_ENST00000537215.2_Missense_Mutation_p.D319G|STAT6_ENST00000454075.3_Missense_Mutation_p.D429G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	429					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GAAGGCATTGTCCCACAGGAT	0.572																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1285-1287)gAc>gGc		signal transducer and activator of transcription 6, interleukin-4 induced							149.0	115.0	126.0					12																	57496631		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57496631T>C	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1286A>G	12.37:g.57496631T>C	ENSP00000300134:p.Asp429Gly					STAT6_ENST00000537215.2_Missense_Mutation_p.D319G|STAT6_ENST00000454075.3_Missense_Mutation_p.D429G|STAT6_ENST00000556155.1_Missense_Mutation_p.D429G|STAT6_ENST00000543873.2_Missense_Mutation_p.D429G|STAT6_ENST00000538913.2_Missense_Mutation_p.D319G	p.D429G	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			12	1611	-			429					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1286A>G	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722868	0.89298	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.44	5.44	0.79542	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94965	0.8112	10	0.87932	D	0	-26.3444	13.4858	0.61364	0.0:0.0:0.0:1.0	.	429;429	A8K4S9;P42226	.;STAT6_HUMAN	G	429;319;319;429;429;319;429;319;429	ENSP00000300134:D429G;ENSP00000445409:D319G;ENSP00000438451:D429G;ENSP00000451742:D429G;ENSP00000444530:D319G;ENSP00000401486:D429G	ENSP00000300134:D429G	D	-	2	0	STAT6	55782898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.285000	0.76669	0.528000	0.53228	GAC		0.572	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		16	23	0	0	0	1	0	16	23				
ANKAR	150709	broad.mit.edu	37	2	190606144	190606144	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190606144G>A	ENST00000520309.1	+	20	3865	c.3777G>A	c.(3775-3777)cgG>cgA	p.R1259R	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.R1188R|ANKAR_ENST00000313581.4_Silent_p.R1259R|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1259						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAATCCAACGGCTCTGCTATC	0.343																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3775-3777)cgG>cgA		ankyrin and armadillo repeat containing							64.0	64.0	64.0					2																	190606144		2202	4300	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190606144G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3777G>A	2.37:g.190606144G>A						ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.R1188R|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.R1259R	p.R1259R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3865	+			1259					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3777G>A	CCDS33351.2																																																																																				0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		24	61	0	0	0	1	0	24	61				
HSP90B1	7184	broad.mit.edu	37	12	104340404	104340404	+	Missense_Mutation	SNP	C	C	T	rs373656293		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104340404C>T	ENST00000299767.5	+	15	2218	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	679					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGTTACTATGCGAGTCAGAAG	0.348																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(2035-2037)gCg>gTg		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)	C	VAL/ALA	0,4406		0,0,2203	73.0	76.0	75.0		2036	5.5	1.0	12		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSP90B1	NM_003299.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	679/804	104340404	1,13005	2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104340404C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2036C>T	12.37:g.104340404C>T	ENSP00000299767:p.Ala679Val						p.A679V	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			15	2218	+			679					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2036C>T	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.86|19.86	3.906477|3.906477	0.72868|0.72868	0.0|0.0	1.16E-4|1.16E-4	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.09445|.	2.98|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.051314|.	0.85682|.	D|.	0.000000|.	T|.	0.70798|.	0.3265|.	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P|.	0.45569|.	0.861|.	B|.	0.33295|.	0.161|.	T|.	0.65759|.	-0.6090|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.8184|19.8184	0.96581|0.96581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	679|.	P14625|.	ENPL_HUMAN|.	V|X	679;429|30	ENSP00000299767:A679V|.	ENSP00000299767:A679V|.	A|R	+|+	2|1	0|2	HSP90B1|HSP90B1	102864534|102864534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.711000|0.711000	0.40976|0.40976	5.999000|5.999000	0.70665|0.70665	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.348	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		13	29	0	0	0	1	0	13	29				
NMBR	4829	broad.mit.edu	37	6	142396969	142396969	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:142396969C>T	ENST00000258042.1	-	3	1129	c.989G>A	c.(988-990)aGc>aAc	p.S330N	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	330					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCTCCTGAAGCTTTCACTGAG	0.488																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(988-990)aGc>aAc		neuromedin B receptor							104.0	100.0	102.0					6																	142396969		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142396969C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.989G>A	6.37:g.142396969C>T	ENSP00000258042:p.Ser330Asn					NMBR_ENST00000480652.1_5'UTR	p.S330N	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	1129	-	Breast(32;0.155)		330					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.989G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493056	0.64186	.	.	ENSG00000135577	ENST00000258042	T	0.36157	1.27	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.66939	2.045	0.80722	D	1	B	0.15473	0.013	B	0.22601	0.04	T	0.11324	-1.0592	10	0.19590	T	0.45	-28.8068	19.3468	0.94367	0.0:1.0:0.0:0.0	.	330	P28336	NMBR_HUMAN	N	330	ENSP00000258042:S330N	ENSP00000258042:S330N	S	-	2	0	NMBR	142438662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.733000	0.55029	2.640000	0.89533	0.655000	0.94253	AGC		0.488	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			22	44	0	0	0	1	0	22	44				
PLXNA1	5361	broad.mit.edu	37	3	126751581	126751581	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126751581G>A	ENST00000393409.2	+	30	5497	c.5497G>A	c.(5497-5499)Gcg>Acg	p.A1833T	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1810T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1833					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGACATGAGTGCGTATCTGGC	0.577																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5428-5430)Gcg>Acg		plexin A1							103.0	85.0	91.0					3																	126751581		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751581G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5497G>A	3.37:g.126751581G>A	ENSP00000377061:p.Ala1833Thr					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.A1833T	p.A1810T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	30	5497	+			1833						Missense_Mutation	SNP	ENST00000393409.2	37	c.5428G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751054	0.89753	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11495	2.77;2.77	3.74	3.74	0.42951	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.273634	0.29192	N	0.012877	T	0.22044	0.0531	L	0.49455	1.56	0.80722	D	1	P;P	0.46706	0.87;0.883	P;P	0.55965	0.777;0.788	T	0.01608	-1.1313	10	0.33940	T	0.23	.	16.0891	0.81080	0.0:0.0:1.0:0.0	.	447;1833	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	T	1833;1810	ENSP00000377061:A1833T;ENSP00000251772:A1810T	ENSP00000251772:A1810T	A	+	1	0	PLXNA1	128234271	1.000000	0.71417	0.612000	0.29024	0.893000	0.52053	9.464000	0.97655	2.088000	0.63022	0.591000	0.81541	GCG		0.577	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		9	39	0	0	0	1	0	9	39				
DNAH2	146754	broad.mit.edu	37	17	7736702	7736702	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7736702T>C	ENST00000572933.1	+	86	14595	c.13135T>C	c.(13135-13137)Tac>Cac	p.Y4379H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4379H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4379					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGGCATGTACTCCTGCCC	0.632																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13135-13137)Tac>Cac		dynein, axonemal, heavy chain 2							80.0	84.0	83.0					17																	7736702		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736702T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13135T>C	17.37:g.7736702T>C	ENSP00000458355:p.Tyr4379His					DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4379H	p.Y4379H			Q9P225	DYH2_HUMAN			86	14595	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4379					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13135T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188327	0.78789	.	.	ENSG00000183914	ENST00000389173	T	0.10860	2.83	3.96	3.96	0.45880	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65969	-0.6039	10	0.87932	D	0	.	12.2111	0.54379	0.0:0.0:0.0:1.0	.	4379	Q9P225	DYH2_HUMAN	H	4379	ENSP00000373825:Y4379H	ENSP00000373825:Y4379H	Y	+	1	0	DNAH2	7677427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.106000	0.64597	1.801000	0.52704	0.454000	0.30748	TAC		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		40	52	0	0	0	1	0	40	52				
PRM1	5619	broad.mit.edu	37	16	11374865	11374865	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11374865C>T	ENST00000312511.3	-	2	251	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	47					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)		large_intestine(2)|skin(2)	4						TCTTCTACATCGCGGTCTGTA	0.547																																						ENST00000312511.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|skin(2)	4						c.(139-141)cGa>cAa		protamine 1							251.0	254.0	253.0					16																	11374865		2197	4300	6497	SO:0001583	missense	5619				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11374865C>T		CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 1"""	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.140G>A	16.37:g.11374865C>T	ENSP00000310515:p.Arg47Gln					RMI2_ENST00000572173.1_Intron	p.R47Q	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN			2	251	-			47						Missense_Mutation	SNP	ENST00000312511.3	37	c.140G>A	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257229	0.22965	.	.	ENSG00000175646	ENST00000312511	.	.	.	4.69	2.74	0.32292	.	0.190288	0.26769	N	0.022595	T	0.27594	0.0678	.	.	.	0.09310	N	1	P	0.41498	0.752	B	0.39185	0.293	T	0.16276	-1.0408	8	0.87932	D	0	-4.8682	6.361	0.21429	0.0:0.7155:0.1853:0.0992	.	47	P04553	HSP1_HUMAN	Q	47	.	ENSP00000310515:R47Q	R	-	2	0	PRM1	11282366	0.009000	0.17119	0.002000	0.10522	0.002000	0.02628	1.690000	0.37711	0.599000	0.29845	-0.234000	0.12200	CGA		0.547	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1			63	112	0	0	0	1	0	63	112				
CELSR3	1951	broad.mit.edu	37	3	48697959	48697959	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48697959G>A	ENST00000164024.4	-	1	2389	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	CELSR3_ENST00000544264.1_Silent_p.S703S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	703	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCCAGTGGCGCTGTTTATCA	0.547																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(2107-2109)agC>agT		cadherin, EGF LAG seven-pass G-type receptor 3							55.0	52.0	53.0					3																	48697959		2203	4300	6503	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697959G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2109C>T	3.37:g.48697959G>A						CELSR3_ENST00000164024.4_Silent_p.S703S	p.S703S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2389	-			703			Cadherin 4.		O75092	Silent	SNP	ENST00000164024.4	37	c.2109C>T	CCDS2775.1																																																																																				0.547	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	29	0	0	0	1	0	4	29				
LAMB2	3913	broad.mit.edu	37	3	49161443	49161443	+	Missense_Mutation	SNP	C	C	T	rs547349180		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49161443C>T	ENST00000418109.1	-	25	3679	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1172H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1172	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1172L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTCACAGCGCACACCAGA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0					ENST00000418109.1																			1	Substitution - Missense(1)	p.R1172L(1)	lung(1)	NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3514-3516)cGc>cAc		laminin, beta 2 (laminin S)							59.0	56.0	57.0					3																	49161443		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161443C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3515G>A	3.37:g.49161443C>T	ENSP00000388325:p.Arg1172His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1172H	p.R1172H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3679	-			1172			Laminin EGF-like 13.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.3515G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922491	0.92319	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61627	0.09;0.09	5.84	5.84	0.93424	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73531	-0.3953	10	0.44086	T	0.13	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	1172	P55268	LAMB2_HUMAN	H	1172	ENSP00000388325:R1172H;ENSP00000307156:R1172H	ENSP00000307156:R1172H	R	-	2	0	LAMB2	49136447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.029000	0.70895	2.768000	0.95171	0.561000	0.74099	CGC		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	11	0	0	0	1	0	11	11				
TENM2	57451	broad.mit.edu	37	5	167645468	167645468	+	Silent	SNP	C	C	T	rs191685378		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167645468C>T	ENST00000518659.1	+	23	4611	c.4572C>T	c.(4570-4572)aaC>aaT	p.N1524N	TENM2_ENST00000520394.1_Silent_p.N1285N|TENM2_ENST00000545108.1_Silent_p.N1523N|TENM2_ENST00000519204.1_Silent_p.N1403N|TENM2_ENST00000403607.2_Silent_p.N1348N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1524					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACTGCAAAAACGATGTCAATT	0.493													.|||	1	0.000199681	0.0	0.0	5008	,	,		24454	0.001		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(4207-4209)aaC>aaT		teneurin transmembrane protein 2							173.0	172.0	172.0					5																	167645468		2057	4208	6265	SO:0001819	synonymous_variant	57451							g.chr5:167645468C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4572C>T	5.37:g.167645468C>T						TENM2_ENST00000403607.2_Silent_p.N1348N|TENM2_ENST00000545108.1_Silent_p.N1523N|TENM2_ENST00000520394.1_Silent_p.N1285N|TENM2_ENST00000518659.1_Silent_p.N1524N	p.N1403N							22	4327	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4209C>T																																																																																					0.493	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		41	86	0	0	0	1	0	41	86				
BHLHE40	8553	broad.mit.edu	37	3	5025136	5025136	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:5025136C>A	ENST00000256495.3	+	5	1601	c.998C>A	c.(997-999)aCt>aAt	p.T333N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	333					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCTTCAGCGACTGCCTACCTG	0.597																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(997-999)aCt>aAt		basic helix-loop-helix family, member e40							175.0	135.0	149.0					3																	5025136		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025136C>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.998C>A	3.37:g.5025136C>A	ENSP00000256495:p.Thr333Asn						p.T333N	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1601	+			333					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.998C>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420027	0.62622	.	.	ENSG00000134107	ENST00000256495	T	0.42513	0.97	5.51	5.51	0.81932	.	0.206214	0.51477	D	0.000089	T	0.36358	0.0964	L	0.35414	1.06	0.54753	D	0.999986	B	0.28378	0.209	B	0.22152	0.038	T	0.12630	-1.0540	10	0.49607	T	0.09	.	19.4173	0.94706	0.0:1.0:0.0:0.0	.	333	O14503	BHE40_HUMAN	N	333	ENSP00000256495:T333N	ENSP00000256495:T333N	T	+	2	0	BHLHE40	5000136	1.000000	0.71417	0.929000	0.37066	0.952000	0.60782	7.311000	0.78958	2.589000	0.87451	0.655000	0.94253	ACT		0.597	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		15	31	1	0	2.32078e-09	1	2.46314e-09	15	31				
SGSM1	129049	broad.mit.edu	37	22	25315923	25315923	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:25315923C>T	ENST00000400359.4	+	25	3328	c.3321C>T	c.(3319-3321)aaC>aaT	p.N1107N	SGSM1_ENST00000400358.4_Silent_p.N1052N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1107						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTTTGGAGAACAACATGGATT	0.527																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(3154-3156)aaC>aaT		small G protein signaling modulator 1							90.0	84.0	86.0					22																	25315923		2061	4207	6268	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25315923C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3321C>T	22.37:g.25315923C>T						SGSM1_ENST00000400359.4_Silent_p.N1107N	p.N1052N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			24	3213	+			1107			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.3156C>T	CCDS46674.1																																																																																				0.527	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		5	14	0	0	0	1	0	5	14				
LGR4	55366	broad.mit.edu	37	11	27395187	27395187	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27395187C>T	ENST00000379214.4	-	15	1733	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	LGR4_ENST00000389858.4_Silent_p.T406T	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	430					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCAGGCCTTCCGTAGGAAAGG	0.358																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1288-1290)acG>acA		leucine-rich repeat containing G protein-coupled receptor 4							87.0	89.0	88.0					11																	27395187		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27395187C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1290G>A	11.37:g.27395187C>T						LGR4_ENST00000389858.4_Silent_p.T406T	p.T430T	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			15	1733	-			430					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1290G>A	CCDS31449.1																																																																																				0.358	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		29	41	0	0	0	1	0	29	41				
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	C	T	rs146065090	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	70	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"""MPD, NHL"""																																	ENST00000366847.3				Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		"""MPD, NHL"""		0				large_intestine(2)|ovary(1)|stomach(1)	4						c.e3+1		FGFR1 oncogene partner		C	,	0,4406		0,0,2203	68.0	75.0	73.0		210,210	0.3	1.0	6	dbSNP_134	73	5,8569	3.0+/-9.4	0,5,4282	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	FGFR1OP	NM_007045.2,NM_194429.1	,	0,5,6485	TT,TC,CC		0.0583,0.0,0.0385	,	70/400,70/380	167416734	5,12975	2203	4287	6490	SO:0001630	splice_region_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167416734C>T	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.211+1C>T	6.37:g.167416734C>T						FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70_splice	p.D70_splice	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	3	441	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	70			LisH.		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Splice_Site	SNP	ENST00000366847.4	37	c.211_splice	CCDS5296.1																																																																																				0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent	13	46	0	0	0	1	0	13	46				
PPP6C	5537	broad.mit.edu	37	9	127916001	127916001	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127916001C>T	ENST00000373547.4	-	6	579	c.480G>A	c.(478-480)ttG>ttA	p.L160L	PPP6C_ENST00000373546.3_Silent_p.L13L|PPP6C_ENST00000451402.1_Silent_p.L197L|PPP6C_ENST00000415905.1_Silent_p.L138L	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	160					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CATGGACACACAAAATCTGCT	0.353																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(589-591)ttG>ttA		protein phosphatase 6, catalytic subunit							58.0	56.0	57.0					9																	127916001		2203	4300	6503	SO:0001819	synonymous_variant	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127916001C>T	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.480G>A	9.37:g.127916001C>T						PPP6C_ENST00000373547.4_Silent_p.L160L|PPP6C_ENST00000415905.1_Silent_p.L138L|PPP6C_ENST00000373546.3_Silent_p.L13L	p.L197L	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	811	-			160					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Silent	SNP	ENST00000373547.4	37	c.591G>A	CCDS6861.1																																																																																				0.353	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		17	35	0	0	0	1	0	17	35				
WDR24	84219	broad.mit.edu	37	16	736980	736980	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:736980G>A	ENST00000248142.6	-	7	1485	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.R366C			Q96S15	WDR24_HUMAN	WD repeat domain 24	496										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TAGGGCTTGCGCCCCGACTCG	0.697																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1096-1098)Cgc>Tgc		WD repeat domain 24							8.0	11.0	10.0					16																	736980		2167	4265	6432	SO:0001583	missense	84219							g.chr16:736980G>A	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1486C>T	16.37:g.736980G>A	ENSP00000248142:p.Arg496Cys					WDR24_ENST00000248142.6_Missense_Mutation_p.R496C	p.R366C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1855	-		Hepatocellular(780;0.0218)	496					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1096C>T		.	.	.	.	.	.	.	.	.	.	G	16.37	3.105527	0.56291	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.78364	-1.17;0.24	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.81346	-0.0974	10	0.66056	D	0.02	-41.5458	12.0026	0.53240	0.0:0.0:0.8271:0.1729	.	366	Q96S15-2	.	C	496;366	ENSP00000248142:R496C;ENSP00000293883:R366C	ENSP00000248142:R496C	R	-	1	0	WDR24	676981	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	5.251000	0.65438	2.513000	0.84729	0.655000	0.94253	CGC		0.697	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		7	5	0	0	0	1	0	7	5				
GPR75	10936	broad.mit.edu	37	2	54080776	54080776	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54080776G>T	ENST00000394705.2	-	2	1388	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	373					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATATATAAAAGGGTTTAATCC	0.418																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1117-1119)cCt>cAt		G protein-coupled receptor 75							48.0	55.0	53.0					2																	54080776		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080776G>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1118C>A	2.37:g.54080776G>T	ENSP00000378195:p.Pro373His					GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	p.P373H	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1388	-			373					B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1118C>A	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936184	0.73442	.	.	ENSG00000119737	ENST00000394705	D	0.98807	-5.15	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99751	1.1018	9	0.87932	D	0	-11.5352	19.6278	0.95687	0.0:0.0:1.0:0.0	.	373	O95800	GPR75_HUMAN	H	373	ENSP00000378195:P373H	ENSP00000378195:P373H	P	-	2	0	GPR75	53934280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.359000	0.97115	2.646000	0.89796	0.561000	0.74099	CCT		0.418	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			14	53	1	0	1.49906e-05	1	1.54943e-05	14	53				
MCM2	4171	broad.mit.edu	37	3	127337956	127337956	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127337956C>T	ENST00000265056.7	+	13	2344	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	700					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CCAATGGCAGCGCTGCTGAGC	0.627																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2098-2100)agC>agT		minichromosome maintenance complex component 2							37.0	32.0	33.0					3																	127337956		2202	4300	6502	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127337956C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2100C>T	3.37:g.127337956C>T						MCM2_ENST00000468414.1_3'UTR	p.S700S	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2344	+			700					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.2100C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.229841	0.01518	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.61	0.0646	0.14354	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-11.2213	2.2509	0.04043	0.1076:0.348:0.2835:0.2609	.	.	.	.	V	632	.	.	A	+	2	0	MCM2	128820646	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.537000	0.02206	0.309000	0.22966	-0.229000	0.12294	GCG		0.627	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			3	9	0	0	0	1	0	3	9				
SGK223	157285	broad.mit.edu	37	8	8175899	8175899	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8175899C>T	ENST00000520004.1	-	6	4250	c.3986G>A	c.(3985-3987)cGg>cAg	p.R1329Q	SGK223_ENST00000330777.4_Missense_Mutation_p.R1329Q			Q86YV5	SG223_HUMAN		1333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CAGCTCGCGCCGAGGCCCCCA	0.657																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3985-3987)cGg>cAg									46.0	50.0	48.0					8																	8175899		2020	4170	6190	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175899C>T																												ENST00000520004.1:c.3986G>A	8.37:g.8175899C>T	ENSP00000428054:p.Arg1329Gln					SGK223_ENST00000330777.4_Missense_Mutation_p.R1329Q	p.R1329Q			Q86YV5	SG223_HUMAN			6	4250	-			1329					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3986G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252610	0.95336	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.13307	2.6;2.6	4.86	4.86	0.63082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.52905	1.665	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.02942	-1.1091	10	0.87932	D	0	.	17.5329	0.87819	0.0:1.0:0.0:0.0	.	1329	Q86YV5	SG223_HUMAN	Q	1329	ENSP00000330930:R1329Q;ENSP00000428054:R1329Q	ENSP00000330930:R1329Q	R	-	2	0	AC068353.1	8213309	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.792000	0.85828	2.701000	0.92244	0.462000	0.41574	CGG		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			23	43	0	0	0	1	0	23	43				
ANKMY1	51281	broad.mit.edu	37	2	241465186	241465186	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241465186C>T	ENST00000272972.3	-	6	1198	c.984G>A	c.(982-984)acG>acA	p.T328T	ANKMY1_ENST00000406958.1_Silent_p.T187T|ANKMY1_ENST00000405002.1_Silent_p.T98T|ANKMY1_ENST00000536462.1_Silent_p.T140T|ANKMY1_ENST00000373318.2_Silent_p.T187T|ANKMY1_ENST00000405523.3_Silent_p.T187T|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000401804.1_Silent_p.T417T|ANKMY1_ENST00000391987.1_Silent_p.T328T|ANKMY1_ENST00000373320.4_Silent_p.T98T|ANKMY1_ENST00000361678.4_Silent_p.T187T|ANKMY1_ENST00000403283.1_Silent_p.T266T	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	328							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGCTGAGTGCCGTGAGACCCT	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(982-984)acG>acA		ankyrin repeat and MYND domain containing 1							179.0	148.0	159.0					2																	241465186		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241465186C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.984G>A	2.37:g.241465186C>T						ANKMY1_ENST00000373318.2_Silent_p.T187T|ANKMY1_ENST00000373320.4_Silent_p.T98T|ANKMY1_ENST00000403283.1_Silent_p.T266T|ANKMY1_ENST00000536462.1_Silent_p.T140T|ANKMY1_ENST00000401804.1_Silent_p.T417T|ANKMY1_ENST00000406958.1_Silent_p.T187T|ANKMY1_ENST00000361678.4_Silent_p.T187T|ANKMY1_ENST00000272972.3_Silent_p.T328T|ANKMY1_ENST00000405523.3_Silent_p.T187T|ANKMY1_ENST00000405002.1_Silent_p.T98T	p.T328T			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1350	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	328					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.984G>A	CCDS2536.1																																																																																				0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		6	21	0	0	0	1	0	6	21				
CDHR2	54825	broad.mit.edu	37	5	176004552	176004552	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176004552G>A	ENST00000510636.1	+	13	1621	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	CDHR2_ENST00000261944.5_Silent_p.V449V|CDHR2_ENST00000506348.1_Silent_p.V449V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGATGGCGGTGCAGGTGAGGG	0.697																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1345-1347)gtG>gtA		cadherin-related family member 2							34.0	38.0	36.0					5																	176004552		2202	4299	6501	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004552G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1347G>A	5.37:g.176004552G>A						CDHR2_ENST00000506348.1_Silent_p.V449V|CDHR2_ENST00000261944.5_Silent_p.V449V	p.V449V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			13	1621	+			449			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1347G>A	CCDS34297.1																																																																																				0.697	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	14	0	0	0	1	0	6	14				
SH3BP2	6452	broad.mit.edu	37	4	2831831	2831831	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2831831G>A	ENST00000356331.5	+	8	1459	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	SH3BP2_ENST00000435136.2_Missense_Mutation_p.A400T|SH3BP2_ENST00000511747.1_Missense_Mutation_p.A400T|SH3BP2_ENST00000442312.2_Missense_Mutation_p.A428T|SH3BP2_ENST00000503393.2_Missense_Mutation_p.A457T|SH3BP2_ENST00000452765.2_Missense_Mutation_p.A400T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	400					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GGCGCGGCCCGCAGTCCTGCC	0.711									Cherubism																													ENST00000356331.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(1198-1200)Gca>Aca		SH3-domain binding protein 2							16.0	17.0	16.0					4																	2831831		2099	4118	6217	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831831G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1198G>A	4.37:g.2831831G>A	ENSP00000348685:p.Ala400Thr					SH3BP2_ENST00000442312.2_Missense_Mutation_p.A428T|SH3BP2_ENST00000452765.2_Missense_Mutation_p.A400T|SH3BP2_ENST00000503393.2_Missense_Mutation_p.A457T|SH3BP2_ENST00000511747.1_Missense_Mutation_p.A400T|SH3BP2_ENST00000435136.2_Missense_Mutation_p.A400T	p.A400T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1459	+			400					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.1198G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	1.401	-0.578019	0.03854	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	3.96	-3.65	0.04502	.	1.895370	0.02371	N	0.077879	D	0.89188	0.6644	L	0.51422	1.61	0.09310	N	1	B;B;P;B;B	0.37141	0.002;0.287;0.584;0.004;0.0	B;B;B;B;B	0.25884	0.001;0.009;0.064;0.001;0.001	T	0.81243	-0.1021	10	0.16420	T	0.52	-0.0075	1.0725	0.01624	0.3175:0.2367:0.3115:0.1343	.	428;375;375;457;400	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	T	400;428;400;400;457;400	ENSP00000409746:A400T;ENSP00000388152:A428T;ENSP00000403231:A400T;ENSP00000424846:A400T;ENSP00000422168:A457T;ENSP00000348685:A400T	ENSP00000348685:A400T	A	+	1	0	SH3BP2	2801629	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.197000	0.09518	-0.925000	0.03775	-1.136000	0.01936	GCA		0.711	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		5	17	0	0	0	1	0	5	17				
KCNG4	93107	broad.mit.edu	37	16	84270517	84270517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84270517C>T	ENST00000308251.4	-	2	643	c.575G>A	c.(574-576)cGc>cAc	p.R192H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R192H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	192					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGAGGCGGGGCGGCGGGTCTC	0.682																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(574-576)cGc>cAc		potassium voltage-gated channel, subfamily G, member 4							24.0	24.0	24.0					16																	84270517		2199	4296	6495	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270517C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.575G>A	16.37:g.84270517C>T	ENSP00000312129:p.Arg192His					KCNG4_ENST00000308251.4_Missense_Mutation_p.R192H	p.R192H			Q8TDN1	KCNG4_HUMAN			2	695	-			192					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.575G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	4.549	0.101955	0.08731	.	.	ENSG00000168418	ENST00000308251	D	0.96651	-4.08	5.11	1.96	0.26148	.	1.220070	0.05980	N	0.644022	D	0.91492	0.7314	N	0.25647	0.755	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.09377	0.004;0.003	T	0.79754	-0.1670	10	0.13108	T	0.6	.	7.577	0.27942	0.2933:0.6275:0.0:0.0792	.	192;192	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	192	ENSP00000312129:R192H	ENSP00000312129:R192H	R	-	2	0	KCNG4	82828018	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.329000	0.19698	0.134000	0.18681	-0.332000	0.08345	CGC		0.682	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		16	18	0	0	0	1	0	16	18				
NLGN2	57555	broad.mit.edu	37	17	7317668	7317668	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7317668C>T	ENST00000302926.2	+	3	587	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	NLGN2_ENST00000575301.1_Missense_Mutation_p.R172C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	172					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CACAGATATCCGTGACCCTGG	0.627																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(514-516)Cgt>Tgt		neuroligin 2							43.0	43.0	43.0					17																	7317668		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7317668C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.514C>T	17.37:g.7317668C>T	ENSP00000305288:p.Arg172Cys					NLGN2_ENST00000575301.1_Missense_Mutation_p.R172C	p.R172C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			3	587	+		Prostate(122;0.157)	172					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.514C>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045359	0.55110	.	.	ENSG00000169992	ENST00000302926	T	0.69040	-0.37	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.105446	0.37669	N	0.001994	T	0.63931	0.2553	L	0.55103	1.725	0.80722	D	1	P	0.38370	0.628	B	0.37989	0.262	T	0.69935	-0.5010	10	0.72032	D	0.01	.	15.4943	0.75637	0.0:1.0:0.0:0.0	.	172	Q8NFZ4	NLGN2_HUMAN	C	172	ENSP00000305288:R172C	ENSP00000305288:R172C	R	+	1	0	NLGN2	7258392	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.772000	0.55325	2.521000	0.84997	0.455000	0.32223	CGT		0.627	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		6	6	0	0	0	1	0	6	6				
KIF16B	55614	broad.mit.edu	37	20	16359569	16359569	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16359569G>A	ENST00000354981.2	-	19	3235	c.3078C>T	c.(3076-3078)ggC>ggT	p.G1026G	KIF16B_ENST00000355755.3_Silent_p.G1026G|KIF16B_ENST00000408042.1_Silent_p.G1026G|KIF16B_ENST00000378003.2_Silent_p.G252G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1026	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAATCTCCATGCCCAGGGTGG	0.612																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3076-3078)ggC>ggT		kinesin family member 16B							78.0	81.0	80.0					20																	16359569		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359569G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3078C>T	20.37:g.16359569G>A						KIF16B_ENST00000378003.2_Silent_p.G252G|KIF16B_ENST00000408042.1_Silent_p.G1026G|KIF16B_ENST00000355755.3_Silent_p.G1026G	p.G1026G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3235	-			1026			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3078C>T	CCDS13122.1																																																																																				0.612	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		10	49	0	0	0	1	0	10	49				
RLTPR	146206	broad.mit.edu	37	16	67688513	67688513	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67688513G>A	ENST00000334583.6	+	31	3828	c.3500G>A	c.(3499-3501)cGc>cAc	p.R1167H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R1131H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1167					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCCGACCTCGCTACACAAGA	0.657																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3499-3501)cGc>cAc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							17.0	20.0	19.0					16																	67688513		2057	4192	6249	SO:0001583	missense	146206							g.chr16:67688513G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3500G>A	16.37:g.67688513G>A	ENSP00000334958:p.Arg1167His					RLTPR_ENST00000545661.1_Missense_Mutation_p.R1131H	p.R1167H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	31	3828	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1167					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.3500G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819324	0.50633	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.19250	2.16;2.24	5.99	4.98	0.66077	.	0.000000	0.56097	D	0.000029	T	0.23370	0.0565	N	0.24115	0.695	0.31600	N	0.652775	D;D	0.76494	0.999;0.999	P;P	0.62184	0.813;0.899	T	0.08597	-1.0714	10	0.30854	T	0.27	-12.1187	6.2875	0.21041	0.1169:0.1804:0.7027:0.0	.	1131;1167	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	1167;264;1131	ENSP00000334958:R1167H;ENSP00000441481:R1131H	ENSP00000334958:R1167H	R	+	2	0	RLTPR	66246014	0.948000	0.32251	0.971000	0.41717	0.025000	0.11179	1.932000	0.40143	2.840000	0.97914	0.655000	0.94253	CGC		0.657	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	14	0	0	0	1	0	14	14				
ZDHHC2	51201	broad.mit.edu	37	8	17055160	17055160	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:17055160A>G	ENST00000262096.8	+	5	1138	c.443A>G	c.(442-444)aAa>aGa	p.K148R		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	148					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GTCTGTGATAAGTAAGAGAAC	0.388																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.e5+1		zinc finger, DHHC-type containing 2							130.0	128.0	128.0					8																	17055160		1904	4134	6038	SO:0001630	splice_region_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17055160A>G	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.443+1A>G	8.37:g.17055160A>G							p.K148_splice	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	5	1138	+			148					D3DSP5	Splice_Site	SNP	ENST00000262096.8	37	c.443_splice	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	A	8.511	0.866604	0.17250	.	.	ENSG00000104219	ENST00000262096;ENST00000522184	T;T	0.24908	1.83;1.83	4.3	4.3	0.51218	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.355612	0.29892	N	0.010922	T	0.12390	0.0301	N	0.04320	-0.23	0.42132	D	0.991479	P	0.37914	0.611	B	0.37731	0.257	T	0.18587	-1.0332	10	0.14252	T	0.57	.	13.9188	0.63919	1.0:0.0:0.0:0.0	.	148	Q9UIJ5	ZDHC2_HUMAN	R	148;103	ENSP00000262096:K148R;ENSP00000430317:K103R	ENSP00000262096:K148R	K	+	2	0	ZDHHC2	17099531	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.067000	0.50010	1.948000	0.56530	0.377000	0.23210	AAA		0.388	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	Missense_Mutation	28	47	0	0	0	1	0	28	47				
ZBTB17	7709	broad.mit.edu	37	1	16269097	16269097	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16269097G>A	ENST00000375743.4	-	14	2197	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZBTB17_ENST00000537142.1_Silent_p.S573S|ZBTB17_ENST00000375733.2_Silent_p.S655S	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	655	Interaction with HCFC1.|Interaction with MYC.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGACCACGCTGACCTCAC	0.637																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(1963-1965)agC>agT		zinc finger and BTB domain containing 17							80.0	65.0	70.0					1																	16269097		2203	4300	6503	SO:0001819	synonymous_variant	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16269097G>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1965C>T	1.37:g.16269097G>A						ZBTB17_ENST00000375743.4_Silent_p.S655S|ZBTB17_ENST00000537142.1_Silent_p.S573S	p.S655S			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	14	2203	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	655			Interaction with HCFC1.|Interaction with MYC.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	ENST00000375743.4	37	c.1965C>T	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.710|8.710	0.911779|0.911779	0.17907|0.17907	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000440560	.|.	.|.	.|.	5.19|5.19	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.58680|0.58680	0.2139|0.2139	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53151|0.53151	-0.8479|-0.8479	4|4	.|.	.|.	.|.	.|.	9.0256|9.0256	0.36227|0.36227	0.2262:0.0:0.7738:0.0|0.2262:0.0:0.7738:0.0	.|.	.|.	.|.	.|.	V|C	212|55	.|.	.|.	A|R	-|-	2|1	0|0	ZBTB17|ZBTB17	16141684|16141684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	1.840000|1.840000	0.39230|0.39230	0.687000|0.687000	0.31509|0.31509	0.563000|0.563000	0.77884|0.77884	GCG|CGT		0.637	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		5	29	0	0	0	1	0	5	29				
SCN2A	6326	broad.mit.edu	37	2	166243467	166243467	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166243467A>G	ENST00000375437.2	+	26	5053	c.4763A>G	c.(4762-4764)tAc>tGc	p.Y1588C	SCN2A_ENST00000375427.2_Missense_Mutation_p.Y1588C|SCN2A_ENST00000283256.6_Missense_Mutation_p.Y1588C|SCN2A_ENST00000357398.3_Missense_Mutation_p.Y1588C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1588					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCGTTACTACTATTTCACT	0.358																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4762-4764)tAc>tGc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						221.0	203.0	209.0					2																	166243467		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166243467A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4763A>G	2.37:g.166243467A>G	ENSP00000364586:p.Tyr1588Cys					SCN2A_ENST00000375427.2_Missense_Mutation_p.Y1588C|SCN2A_ENST00000283256.6_Missense_Mutation_p.Y1588C|SCN2A_ENST00000375437.2_Missense_Mutation_p.Y1588C	p.Y1588C			Q99250	SCN2A_HUMAN			26	5053	+			1588					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4763A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130683	0.77549	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98760	0.9583	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.74348	0.983;0.971	D	0.99748	1.1017	10	0.87932	D	0	.	15.0121	0.71557	1.0:0.0:0.0:0.0	.	1588;1588	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1588	ENSP00000364586:Y1588C;ENSP00000349973:Y1588C;ENSP00000283256:Y1588C;ENSP00000364576:Y1588C	ENSP00000283256:Y1588C	Y	+	2	0	SCN2A	165951713	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.524000	0.81866	1.957000	0.56846	0.528000	0.53228	TAC		0.358	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	65	0	0	0	1	0	4	65				
TTLL7	79739	broad.mit.edu	37	1	84408190	84408190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:84408190G>A	ENST00000260505.8	-	7	1056	c.679C>T	c.(679-681)Cga>Tga	p.R227*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	227	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTACCCATTCGCACAAGCCCA	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(679-681)Cga>Tga		tubulin tyrosine ligase-like family, member 7							84.0	87.0	86.0					1																	84408190		2203	4300	6503	SO:0001587	stop_gained	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84408190G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.679C>T	1.37:g.84408190G>A	ENSP00000260505:p.Arg227*					TTLL7_ENST00000477524.1_5'UTR	p.R227*	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	7	1056	-			227			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Nonsense_Mutation	SNP	ENST00000260505.8	37	c.679C>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	G	41	8.626816	0.98890	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	.	.	.	5.62	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1875	0.48666	0.0:0.0:0.5961:0.4039	.	.	.	.	X	227	.	ENSP00000260505:R227X	R	-	1	2	TTLL7	84180778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.536000	0.60636	2.641000	0.89580	0.591000	0.81541	CGA		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		28	33	0	0	0	1	0	28	33				
PPARGC1A	10891	broad.mit.edu	37	4	23803961	23803961	+	Missense_Mutation	SNP	C	C	T	rs143962880		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:23803961C>T	ENST00000264867.2	-	11	2146	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	676	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATCACACGGCGCTCTTCCTA	0.502																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(2026-2028)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha			HIS/ARG	0,4406		0,0,2203	86.0	86.0	86.0		2027	5.2	1.0	4	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPARGC1A	NM_013261.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	676/799	23803961	2,13004	2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803961C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2027G>A	4.37:g.23803961C>T	ENSP00000264867:p.Arg676His					PPARGC1A_ENST00000509702.1_5'UTR	p.R676H	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			11	2146	-		Breast(46;0.0503)	676					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2027G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.260615	0.39995	0.0	2.33E-4	ENSG00000109819	ENST00000264867	T	0.51071	0.72	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);	0.048278	0.85682	D	0.000000	T	0.38612	0.1047	L	0.43598	1.365	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.22941	-1.0202	10	0.45353	T	0.12	-6.0847	9.7361	0.40388	0.0:0.8451:0.0:0.1549	.	676	Q9UBK2	PRGC1_HUMAN	H	676	ENSP00000264867:R676H	ENSP00000264867:R676H	R	-	2	0	PPARGC1A	23413059	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.794000	0.55492	2.582000	0.87167	0.457000	0.33378	CGC		0.502	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		30	45	0	0	0	1	0	30	45				
ITGA4	3676	broad.mit.edu	37	2	182347362	182347362	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182347362A>G	ENST00000397033.2	+	9	1455	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	342					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTGTTTGTGTACATCAACTCT	0.473																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1024-1026)tAc>tGc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						128.0	126.0	126.0					2																	182347362		1981	4161	6142	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347362A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1025A>G	2.37:g.182347362A>G	ENSP00000380227:p.Tyr342Cys						p.Y342C	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1455	+			342					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1025A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845497	0.71603	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.16597	2.33;2.33	5.81	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.19614	-1.0300	10	0.66056	D	0.02	.	12.1555	0.54074	0.8716:0.0:0.0:0.1284	.	342;342	E7EP60;P13612	.;ITA4_HUMAN	C	342	ENSP00000380227:Y342C;ENSP00000233573:Y342C	ENSP00000233573:Y342C	Y	+	2	0	ITGA4	182055607	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.047000	0.71038	0.979000	0.38497	0.528000	0.53228	TAC		0.473	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			15	74	0	0	0	1	0	15	74				
SLC13A4	26266	broad.mit.edu	37	7	135392945	135392945	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135392945G>A	ENST00000354042.4	-	3	971	c.282C>T	c.(280-282)tgC>tgT	p.C94C		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	94					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CAGCCGCCACGCAGATGACCC	0.607																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(280-282)tgC>tgT		solute carrier family 13 (sodium/sulfate symporter), member 4							96.0	98.0	97.0					7																	135392945		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135392945G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.282C>T	7.37:g.135392945G>A						AC091736.10_ENST00000378428.3_RNA	p.C94C	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			3	971	-			94					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.282C>T	CCDS5840.1																																																																																				0.607	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		45	61	0	0	0	1	0	45	61				
DEFA4	1669	broad.mit.edu	37	8	6794283	6794283	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:6794283C>T	ENST00000297435.2	-	2	263	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	47					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTATCCCATGCAAAGGAAATA	0.557																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(139-141)Gca>Aca		defensin, alpha 4, corticostatin							90.0	88.0	89.0					8																	6794283		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794283C>T	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.139G>A	8.37:g.6794283C>T	ENSP00000297435:p.Ala47Thr						p.A47T	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	263	-			47					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.139G>A	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.405785	0.25378	.	.	ENSG00000164821	ENST00000297435	T	0.30448	1.53	1.66	-3.33	0.04958	Defensin propeptide (1);	2.192100	0.02443	N	0.084740	T	0.32285	0.0824	.	.	.	0.09310	N	1	P	0.47034	0.889	P	0.50896	0.653	T	0.21381	-1.0247	9	0.38643	T	0.18	.	2.9331	0.05805	0.2025:0.3283:0.0:0.4692	.	47	P12838	DEF4_HUMAN	T	47	ENSP00000297435:A47T	ENSP00000297435:A47T	A	-	1	0	DEFA4	6781693	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-1.316000	0.02295	-1.142000	0.01873	GCA		0.557	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		11	38	0	0	0	1	0	11	38				
HCN2	610	broad.mit.edu	37	19	603876	603876	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:603876C>T	ENST00000251287.2	+	2	1018	c.965C>T	c.(964-966)gCc>gTc	p.A322V		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	322					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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)		ACGGCACGCGCCCTGCGCATC	0.607																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(964-966)gCc>gTc		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							94.0	73.0	80.0					19																	603876		2201	4295	6496	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603876C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.965C>T	19.37:g.603876C>T	ENSP00000251287:p.Ala322Val						p.A322V	NM_001194.3	NP_001185.3	Q9UL51	HCN2_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)	2	1018	+		all_epithelial(18;2.78e-22)|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)	322					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.965C>T	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	16.26	3.074311	0.55646	.	.	ENSG00000099822	ENST00000251287	D	0.97772	-4.53	2.78	1.68	0.24146	Ion transport (1);	.	.	.	.	D	0.95993	0.8695	L	0.49699	1.58	0.58432	D	0.999994	B	0.29188	0.236	B	0.37091	0.241	D	0.93781	0.7084	9	0.87932	D	0	.	10.7418	0.46158	0.0:0.8048:0.1952:0.0	.	322	Q9UL51	HCN2_HUMAN	V	322	ENSP00000251287:A322V	ENSP00000251287:A322V	A	+	2	0	HCN2	554876	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	7.425000	0.80255	0.501000	0.28013	0.187000	0.17357	GCC		0.607	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		5	28	0	0	0	1	0	5	28				
PSMD7	5713	broad.mit.edu	37	16	74334038	74334038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74334038C>T	ENST00000219313.4	+	2	240	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	PSMD7_ENST00000568615.2_Missense_Mutation_p.R34C|PSMD7_ENST00000567958.1_Missense_Mutation_p.R34C|PSMD7_ENST00000540379.1_5'UTR	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	34	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						AAACCAGAAGCGTGTTGTTGG	0.413																																						ENST00000219313.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(100-102)Cgt>Tgt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							139.0	116.0	124.0					16																	74334038		2198	4300	6498	SO:0001583	missense	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74334038C>T	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.100C>T	16.37:g.74334038C>T	ENSP00000219313:p.Arg34Cys					PSMD7_ENST00000567958.1_Missense_Mutation_p.R34C|PSMD7_ENST00000568615.2_Missense_Mutation_p.R34C|PSMD7_ENST00000540379.1_5'UTR	p.R34C	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			2	240	+			34			MPN.		D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.100C>T	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242519	0.95272	.	.	ENSG00000103035	ENST00000219313	T	0.58506	0.33	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90797	0.4691	10	0.87932	D	0	-9.5475	19.8109	0.96545	0.0:1.0:0.0:0.0	.	34	P51665	PSD7_HUMAN	C	34	ENSP00000219313:R34C	ENSP00000219313:R34C	R	+	1	0	PSMD7	72891539	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	7.761000	0.85260	2.691000	0.91804	0.591000	0.81541	CGT		0.413	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		20	29	0	0	0	1	0	20	29				
PTPRS	5802	broad.mit.edu	37	19	5214594	5214594	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5214594G>A	ENST00000587303.1	-	28	4571	c.4472C>T	c.(4471-4473)aCg>aTg	p.T1491M	PTPRS_ENST00000262963.6_Missense_Mutation_p.T1471M|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1453M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1044M|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1492M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1453M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1044M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1491M|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1491	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTCCAGCCGCGTCATCATGAC	0.637																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4474-4476)aCg>aTg		protein tyrosine phosphatase, receptor type, S							60.0	51.0	54.0					19																	5214594		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5214594G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4472C>T	19.37:g.5214594G>A	ENSP00000467537:p.Thr1491Met					PTPRS_ENST00000588012.1_Missense_Mutation_p.T1453M|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1491M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1044M|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1453M|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1471M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1491M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1044M	p.T1492M			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	29	4708	-			1491			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4475C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961755	0.53400	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	3.22	3.22	0.36961	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000002	T	0.72309	0.3444	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84225	0.0463	10	0.87932	D	0	.	14.9497	0.71064	0.0:0.0:1.0:0.0	.	1073;1044;1048;1453;1491;1086	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	M	1086;1492;1491;1491;1482;1471;1453;1073;1048;1044	ENSP00000361489:T1492M;ENSP00000349932:T1491M;ENSP00000262963:T1471M;ENSP00000269907:T1453M;ENSP00000327313:T1044M	ENSP00000262963:T1471M	T	-	2	0	PTPRS	5165594	1.000000	0.71417	0.958000	0.39756	0.145000	0.21501	9.547000	0.98100	1.833000	0.53350	0.313000	0.20887	ACG		0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			9	16	0	0	0	1	0	9	16				
MTMR3	8897	broad.mit.edu	37	22	30418109	30418109	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30418109T>C	ENST00000401950.2	+	18	3659	c.3317T>C	c.(3316-3318)gTg>gCg	p.V1106A	MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Missense_Mutation_p.V970A|MTMR3_ENST00000406629.1_Intron|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Intron	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1106					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGGAGCAGGTGGATAAACAG	0.517																																						ENST00000401950.2																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3316-3318)gTg>gCg		myotubularin related protein 3							73.0	68.0	69.0					22																	30418109		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30418109T>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3317T>C	22.37:g.30418109T>C	ENSP00000384651:p.Val1106Ala					MTMR3_ENST00000323630.5_Missense_Mutation_p.V970A|MTMR3_ENST00000351488.3_Intron|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Intron|MTMR3_ENST00000333027.3_Intron	p.V1106A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		18	3659	+			1106					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.3317T>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173539	0.78452	.	.	ENSG00000100330	ENST00000401950;ENST00000323630	D;D	0.94232	-3.18;-3.38	5.32	5.32	0.75619	.	0.063724	0.64402	D	0.000008	D	0.94518	0.8235	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95122	0.8247	10	0.72032	D	0.01	.	14.6182	0.68565	0.0:0.0:0.0:1.0	.	1106	Q13615	MTMR3_HUMAN	A	1106;970	ENSP00000384651:V1106A;ENSP00000318070:V970A	ENSP00000318070:V970A	V	+	2	0	MTMR3	28748109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.517000	0.81783	2.233000	0.73108	0.533000	0.62120	GTG		0.517	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		22	18	0	0	0	1	0	22	18				
MYH13	8735	broad.mit.edu	37	17	10235523	10235523	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10235523C>T	ENST00000418404.3	-	19	2354	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	MYH13_ENST00000252172.4_Missense_Mutation_p.A731T|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	731	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATAGCACTGGCATTGAGGATC	0.507																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2191-2193)Gcc>Acc		myosin, heavy chain 13, skeletal muscle							160.0	162.0	161.0					17																	10235523		2060	4222	6282	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235523C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2191G>A	17.37:g.10235523C>T	ENSP00000404570:p.Ala731Thr					MYH13_ENST00000570743.1_Missense_Mutation_p.A731T|MYH13_ENST00000252172.4_Missense_Mutation_p.A731T|RP11-401O9.3_ENST00000577743.1_RNA	p.A731T			Q9UKX3	MYH13_HUMAN			19	2354	-			731			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2191G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044783	0.75732	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87491	-2.26	4.35	3.37	0.38596	Myosin head, motor domain (2);	.	.	.	.	D	0.91492	0.7314	M	0.65677	2.01	0.39604	D	0.969774	D	0.63046	0.992	D	0.69142	0.962	D	0.92502	0.6009	9	0.87932	D	0	.	12.7687	0.57408	0.0:0.9196:0.0:0.0804	.	731	Q9UKX3	MYH13_HUMAN	T	731;406	ENSP00000252172:A731T	ENSP00000252172:A731T	A	-	1	0	MYH13	10176248	0.866000	0.29940	1.000000	0.80357	0.997000	0.91878	0.769000	0.26604	1.170000	0.42753	0.655000	0.94253	GCC		0.507	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		26	38	0	0	0	1	0	26	38				
CASZ1	54897	broad.mit.edu	37	1	10699862	10699862	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10699862G>A	ENST00000377022.3	-	21	4734	c.4417C>T	c.(4417-4419)Cac>Tac	p.H1473Y	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1473					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGTACATGTGCGTGCGCCCG	0.607																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4417-4419)Cac>Tac		castor zinc finger 1							40.0	53.0	49.0					1																	10699862		2168	4269	6437	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699862G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4417C>T	1.37:g.10699862G>A	ENSP00000366221:p.His1473Tyr					RP4-734G22.3_ENST00000606802.1_RNA	p.H1473Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	4734	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1473					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4417C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890386	0.91889	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.48767	U	0.000164	T	0.64746	0.2626	L	0.29908	0.895	0.80722	D	1	D	0.56287	0.975	D	0.71656	0.974	T	0.60198	-0.7310	9	0.21540	T	0.41	-19.4155	17.9336	0.89006	0.0:0.0:1.0:0.0	.	1473	Q86V15	CASZ1_HUMAN	Y	1473	.	ENSP00000366221:H1473Y	H	-	1	0	CASZ1	10622449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.237000	0.73441	0.460000	0.39030	CAC		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	10	0	0	0	1	0	4	10				
RAI14	26064	broad.mit.edu	37	5	34814747	34814747	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:34814747G>A	ENST00000265109.3	+	12	1199	c.912G>A	c.(910-912)tcG>tcA	p.S304S	RAI14_ENST00000503673.1_Silent_p.S304S|RAI14_ENST00000506376.1_Silent_p.S296S|RAI14_ENST00000428746.2_Silent_p.S304S|RAI14_ENST00000515799.1_Silent_p.S307S|RAI14_ENST00000397449.1_Silent_p.S297S|RAI14_ENST00000512629.1_Silent_p.S275S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	304						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAGGAATCGGTATTTTTTG	0.318																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(910-912)tcG>tcA		retinoic acid induced 14							172.0	154.0	160.0					5																	34814747		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814747G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.912G>A	5.37:g.34814747G>A						RAI14_ENST00000397449.1_Silent_p.S297S|RAI14_ENST00000428746.2_Silent_p.S304S|RAI14_ENST00000515799.1_Silent_p.S307S|RAI14_ENST00000503673.1_Silent_p.S304S|RAI14_ENST00000512629.1_Silent_p.S275S|RAI14_ENST00000506376.1_Silent_p.S296S	p.S304S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1199	+	all_lung(31;0.000191)		304					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.912G>A	CCDS34142.1																																																																																				0.318	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		25	39	0	0	0	1	0	25	39				
TDRD9	122402	broad.mit.edu	37	14	104474749	104474749	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104474749G>T	ENST00000409874.4	+	20	2100		c.e20-1		TDRD9_ENST00000339063.5_Splice_Site	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TATATTTAAAGGATGAACTTA	0.259																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.e20-1		tudor domain containing 9							65.0	75.0	72.0					14																	104474749		2196	4289	6485	SO:0001630	splice_region_variant	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104474749G>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2053-1G>T	14.37:g.104474749G>T						TDRD9_ENST00000339063.5_Splice_Site		NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			20	2100	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)						A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Splice_Site	SNP	ENST00000409874.4	37		CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216165	0.58452	.	.	ENSG00000156414	ENST00000409874;ENST00000339063;ENST00000557332	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4363	0.90648	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD9	103544502	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	8.789000	0.91839	2.336000	0.79503	0.467000	0.42956	.		0.259	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	Intron	6	40	1	0	0.00198382	1	0.0020125	6	40				
CES4A	283848	broad.mit.edu	37	16	67038065	67038065	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67038065G>A	ENST00000326686.5	+	9	1018	c.1018G>A	c.(1018-1020)Gtt>Att	p.V340I	CES4A_ENST00000540947.2_Missense_Mutation_p.V340I|CES4A_ENST00000398354.1_Missense_Mutation_p.V340I|CES4A_ENST00000541479.1_Missense_Mutation_p.V363I|CES4A_ENST00000338718.4_Missense_Mutation_p.V363I|CES4A_ENST00000540579.1_Missense_Mutation_p.V242I|CES4A_ENST00000535696.1_Missense_Mutation_p.V246I			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	340						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCAGGGGAAGGTTTCATCTGT	0.498																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1018-1020)Gtt>Att		carboxylesterase 4A							205.0	203.0	204.0					16																	67038065		2036	4178	6214	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67038065G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1018G>A	16.37:g.67038065G>A	ENSP00000314145:p.Val340Ile					CES4A_ENST00000540579.1_Missense_Mutation_p.V242I|CES4A_ENST00000398354.1_Missense_Mutation_p.V340I|CES4A_ENST00000541479.1_Missense_Mutation_p.V363I|CES4A_ENST00000535696.1_Missense_Mutation_p.V246I|CES4A_ENST00000338718.4_Missense_Mutation_p.V363I|CES4A_ENST00000326686.5_Missense_Mutation_p.V340I	p.V340I	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			9	1202	+			340					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1018G>A		.	.	.	.	.	.	.	.	.	.	g	7.789	0.711140	0.15239	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	4.63	-0.399	0.12415	Carboxylesterase, type B (1);	0.470213	0.17417	N	0.174982	T	0.36138	0.0956	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.001	B;B;B;B	0.12837	0.003;0.003;0.008;0.004	T	0.17319	-1.0373	10	0.49607	T	0.09	.	3.251	0.06814	0.3095:0.0:0.3056:0.3848	.	246;363;340;363	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	I	340;363;363;340;340;303;242;246	ENSP00000444052:V340I;ENSP00000443175:V363I;ENSP00000340714:V363I;ENSP00000381397:V340I;ENSP00000314145:V340I;ENSP00000441103:V303I;ENSP00000441907:V242I;ENSP00000441644:V246I	ENSP00000314145:V340I	V	+	1	0	CES4A	65595566	0.059000	0.20769	0.156000	0.22583	0.286000	0.27126	0.210000	0.17455	0.043000	0.15746	-0.436000	0.05848	GTT		0.498	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		41	52	0	0	0	1	0	41	52				
ADAM30	11085	broad.mit.edu	37	1	120437245	120437245	+	Missense_Mutation	SNP	G	G	A	rs367708640		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120437245G>A	ENST00000369400.1	-	1	1873	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	572	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTATAGTCGTATGCTCTGG	0.398																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1714-1716)aCg>aTg		ADAM metallopeptidase domain 30		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110.0	111.0	111.0		1715	3.4	0.0	1		111	0,8600		0,0,4300	no	missense	ADAM30	NM_021794.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	572/791	120437245	1,13005	2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437245G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1715C>T	1.37:g.120437245G>A	ENSP00000358407:p.Thr572Met						p.T572M	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1873	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	572			Cys-rich.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1715C>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980983	0.53827	2.27E-4	0.0	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.23147	1.92	5.28	3.38	0.38709	ADAM, cysteine-rich (2);	0.139999	0.32357	N	0.006220	T	0.31167	0.0788	M	0.87097	2.86	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.17961	-1.0352	10	0.59425	D	0.04	.	7.0458	0.25044	0.0912:0.1737:0.7352:0.0	.	572	Q9UKF2	ADA30_HUMAN	M	572	ENSP00000358407:T572M	ENSP00000358407:T572M	T	-	2	0	ADAM30	120238768	0.000000	0.05858	0.003000	0.11579	0.043000	0.13939	-0.350000	0.07721	0.765000	0.33221	0.655000	0.94253	ACG		0.398	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		42	73	0	0	0	1	0	42	73				
KIAA1210	57481	broad.mit.edu	37	X	118221659	118221659	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:118221659A>G	ENST00000402510.2	-	11	3533	c.3534T>C	c.(3532-3534)gcT>gcC	p.A1178A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1178										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGCCTTCAACAGCCATTTTCT	0.458																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(3532-3534)gcT>gcC		KIAA1210							62.0	55.0	57.0					X																	118221659		1859	4097	5956	SO:0001819	synonymous_variant	57481							g.chrX:118221659A>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3534T>C	X.37:g.118221659A>G							p.A1178A	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	3533	-			1178					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.3534T>C	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	4.997	0.185139	0.09495	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.43	-4.73	0.03259	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	0.2682	0.00227	0.2411:0.2875:0.187:0.2845	.	.	.	.	R	585	.	.	C	-	1	0	KIAA1210	118105687	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-1.095000	0.03050	0.486000	0.48141	TGT		0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		11	3	0	0	0	1	0	11	3				
SMARCAD1	56916	broad.mit.edu	37	4	95186038	95186038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:95186038C>T	ENST00000354268.4	+	10	1535	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P488S|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P58S			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	488					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CATAGAACAACCTTCCATTCT	0.303																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1462-1464)Cct>Tct		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							68.0	64.0	65.0					4																	95186038		2202	4298	6500	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95186038C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1462C>T	4.37:g.95186038C>T	ENSP00000346217:p.Pro488Ser					SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P58S|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P488S	p.P488S			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	10	1535	+			488					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1462C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209836	0.79240	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.92699	-2.87;-2.87;-2.89;-3.09	5.85	5.85	0.93711	.	0.000000	0.47455	D	0.000230	D	0.95987	0.8693	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.971;0.987	D	0.94863	0.8023	10	0.42905	T	0.14	-9.9988	20.1649	0.98147	0.0:1.0:0.0:0.0	.	488;488	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	S	488;488;488;58	ENSP00000351947:P488S;ENSP00000415576:P488S;ENSP00000346217:P488S;ENSP00000423286:P58S	ENSP00000346217:P488S	P	+	1	0	SMARCAD1	95405061	1.000000	0.71417	0.969000	0.41365	0.845000	0.48019	6.268000	0.72552	2.753000	0.94483	0.655000	0.94253	CCT		0.303	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		5	49	0	0	0	1	0	5	49				
TTN	7273	broad.mit.edu	37	2	179623769	179623769	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179623769C>T	ENST00000591111.1	-	44	10469	c.10245G>A	c.(10243-10245)acG>acA	p.T3415T	TTN_ENST00000342992.6_Silent_p.T3415T|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.T3415T|TTN_ENST00000359218.5_Silent_p.T3369T|TTN_ENST00000460472.2_Silent_p.T3369T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.T3415T|TTN_ENST00000342175.6_Silent_p.T3369T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13731	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCAACAAACGTGTAAGTTC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(10243-10245)acG>acA		titin							142.0	130.0	134.0					2																	179623769		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179623769C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10245G>A	2.37:g.179623769C>T						TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.T3369T|TTN_ENST00000360870.5_Silent_p.T3415T|TTN_ENST00000591111.1_Silent_p.T3415T|TTN_ENST00000460472.2_Silent_p.T3369T|TTN_ENST00000342992.6_Silent_p.T3415T|TTN_ENST00000359218.5_Silent_p.T3369T|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.T3415T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10469	-			3128			Ig-like 20.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10245G>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	40	0	0	0	1	0	34	40				
KLHL9	55958	broad.mit.edu	37	9	21334742	21334742	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:21334742G>A	ENST00000359039.4	-	1	637	c.117C>T	c.(115-117)ggC>ggT	p.G39G	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	39					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGATCAAAGCCTTGCAATA	0.483																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(115-117)ggC>ggT		kelch-like family member 9							102.0	92.0	95.0					9																	21334742		2203	4300	6503	SO:0001819	synonymous_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334742G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.117C>T	9.37:g.21334742G>A						KLHL9_ENST00000537938.1_Intron	p.G39G			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	637	-			39					Q8TCQ2	Silent	SNP	ENST00000359039.4	37	c.117C>T	CCDS6503.1																																																																																				0.483	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		33	31	0	0	0	1	0	33	31				
TIMM22	29928	broad.mit.edu	37	17	902045	902045	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:902045G>A	ENST00000327158.4	+	2	291	c.265G>A	c.(265-267)Gtg>Atg	p.V89M		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	89					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCATTTGGGGTGTTTACCGC	0.483																																						ENST00000327158.3																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(265-267)Gtg>Atg		translocase of inner mitochondrial membrane 22 homolog (yeast)							315.0	254.0	274.0					17																	902045		2203	4300	6503	SO:0001583	missense	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:902045G>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.265G>A	17.37:g.902045G>A	ENSP00000320236:p.Val89Met						p.V89M	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	291	+			89					Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	c.265G>A	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598020	0.66332	.	.	ENSG00000177370	ENST00000327158	T	0.31247	1.5	5.36	4.37	0.52481	.	0.168201	0.51477	D	0.000091	T	0.32164	0.0820	N	0.16368	0.405	0.42732	D	0.993715	P	0.45634	0.863	P	0.57204	0.815	T	0.12066	-1.0562	10	0.51188	T	0.08	-10.9602	10.0607	0.42273	0.1749:0.0:0.8251:0.0	.	89	Q9Y584	TIM22_HUMAN	M	89	ENSP00000320236:V89M	ENSP00000320236:V89M	V	+	1	0	TIMM22	848795	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.124000	0.50461	1.225000	0.43566	0.491000	0.48974	GTG		0.483	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		42	72	0	0	0	1	0	42	72				
BAI1	575	broad.mit.edu	37	8	143618432	143618432	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143618432G>A	ENST00000517894.1	+	26	4549	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	BAI1_ENST00000323289.5_Missense_Mutation_p.A1219T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1219					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAACGGCCACGCCCAGCTCAT	0.687																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3655-3657)Gcc>Acc		brain-specific angiogenesis inhibitor 1							24.0	32.0	29.0					8																	143618432		2073	4197	6270	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143618432G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3655G>A	8.37:g.143618432G>A	ENSP00000430945:p.Ala1219Thr					BAI1_ENST00000323289.5_Missense_Mutation_p.A1219T	p.A1219T			O14514	BAI1_HUMAN			26	4549	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1219						Missense_Mutation	SNP	ENST00000517894.1	37	c.3655G>A		.	.	.	.	.	.	.	.	.	.	g	11.54	1.670284	0.29693	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.29917	1.55;1.55	3.63	3.63	0.41609	.	0.076294	0.51477	U	0.000084	T	0.20577	0.0495	L	0.41710	1.295	0.42449	D	0.99274	P	0.34743	0.466	B	0.16722	0.016	T	0.07121	-1.0789	10	0.19147	T	0.46	.	14.293	0.66292	0.0:0.0:1.0:0.0	.	1219	E9PBK0	.	T	1219	ENSP00000430945:A1219T;ENSP00000313046:A1219T	ENSP00000313046:A1219T	A	+	1	0	BAI1	143615434	1.000000	0.71417	0.992000	0.48379	0.213000	0.24496	3.689000	0.54706	1.577000	0.49804	0.306000	0.20318	GCC		0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		7	5	0	0	0	1	0	7	5				
IRAK2	3656	broad.mit.edu	37	3	10276298	10276298	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10276298G>A	ENST00000256458.4	+	11	1518	c.1428G>A	c.(1426-1428)acG>acA	p.T476T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCTGGCCACGGCTGCCTGCC	0.687																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1426-1428)acG>acA		interleukin-1 receptor-associated kinase 2							34.0	33.0	33.0					3																	10276298		2198	4292	6490	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10276298G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1428G>A	3.37:g.10276298G>A							p.T476T	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			11	1518	+			476			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.1428G>A	CCDS33697.1																																																																																				0.687	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			15	42	0	0	0	1	0	15	42				
ZEB1	6935	broad.mit.edu	37	10	31810746	31810746	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31810746C>T	ENST00000320985.10	+	7	2593	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	ZEB1_ENST00000361642.5_Missense_Mutation_p.A829V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A761V|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.A812V|ZEB1_ENST00000560721.2_Missense_Mutation_p.A808V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	828					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGCTTAAGAGCGCTAGCTGCC	0.502																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2434-2436)gCg>gTg		zinc finger E-box binding homeobox 1							112.0	94.0	100.0					10																	31810746		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810746C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2483C>T	10.37:g.31810746C>T	ENSP00000319248:p.Ala828Val					ZEB1_ENST00000560721.2_Missense_Mutation_p.A808V|ZEB1_ENST00000320985.10_Missense_Mutation_p.A828V|ZEB1_ENST00000361642.5_Missense_Mutation_p.A829V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A761V|ZEB1_ENST00000559858.1_3'UTR	p.A812V	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2826	+		Prostate(175;0.0156)	828					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2435C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133520	0.77662	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12672	2.95;2.66;2.69;2.66;2.69	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000011	T	0.40067	0.1102	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0;0.99;1.0;1.0	P;D;D;D;D;P;D;D	0.80764	0.859;0.994;0.986;0.986;0.986;0.727;0.986;0.986	T	0.03463	-1.1034	10	0.52906	T	0.07	-20.8683	20.1615	0.98135	0.0:1.0:0.0:0.0	.	761;828;812;828;828;808;829;828	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	V	610;828;829;823;761;828;808;719;812	ENSP00000444282:A610V;ENSP00000354487:A829V;ENSP00000444891:A761V;ENSP00000319248:A828V;ENSP00000391612:A812V	ENSP00000319248:A828V	A	+	2	0	ZEB1	31850752	1.000000	0.71417	0.936000	0.37596	0.857000	0.48899	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	GCG		0.502	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		23	26	0	0	0	1	0	23	26				
CFAP53	220136	broad.mit.edu	37	18	47753783	47753783	+	Missense_Mutation	SNP	G	G	A	rs192619553	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47753783G>A	ENST00000398545.4	-	8	1630	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CATGCCTTGCGCATGGGATGA	0.443																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1513-1515)Cgc>Tgc		coiled-coil domain containing 11		G	CYS/ARG	8,4048		0,8,2020	170.0	175.0	173.0		1513	-1.5	0.2	18		173	0,8342		0,0,4171	yes	missense	CCDC11	NM_145020.3	180	0,8,6191	AA,AG,GG		0.0,0.1972,0.0645	probably-damaging	505/515	47753783	8,12390	2028	4171	6199	SO:0001583	missense	220136							g.chr18:47753783G>A																												ENST00000398545.4:c.1513C>T	18.37:g.47753783G>A	ENSP00000381553:p.Arg505Cys						p.R505C	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1630	-			505						Missense_Mutation	SNP	ENST00000398545.4	37	c.1513C>T	CCDS11940.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	14.27	2.484440	0.44147	0.001972	0.0	ENSG00000172361	ENST00000398545	T	0.52295	0.67	5.39	-1.51	0.08664	.	0.491847	0.20387	N	0.093325	T	0.47911	0.1471	L	0.29908	0.895	0.49130	D	0.999753	D	0.89917	1.0	P	0.61275	0.886	T	0.44651	-0.9314	10	0.87932	D	0	-13.5721	10.6764	0.45789	0.0:0.1197:0.2675:0.6127	.	505	Q96M91	CCD11_HUMAN	C	505	ENSP00000381553:R505C	ENSP00000381553:R505C	R	-	1	0	CCDC11	46007781	0.931000	0.31567	0.250000	0.24296	0.378000	0.30076	0.086000	0.14935	-0.545000	0.06224	-0.181000	0.13052	CGC		0.443	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			15	26	0	0	0	1	0	15	26				
CEACAM18	729767	broad.mit.edu	37	19	51981850	51981850	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51981850C>T	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.A46V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGGAGGTGGCTGTGTCTCTG	0.642																																						ENST00000451626.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(136-138)gCt>gTt		carcinoembryonic antigen-related cell adhesion molecule 18							28.0	33.0	31.0					19																	51981850		1987	4151	6138	SO:0001631	upstream_gene_variant	729767					integral to membrane		g.chr19:51981850C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981850C>T	Exception_encountered						p.A46V			A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	137	+		all_neural(266;0.0529)	46					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.137C>T		.	.	.	.	.	.	.	.	.	.	.	13.97	2.394972	0.42512	.	.	ENSG00000213822	ENST00000451626	T	0.07444	3.19	2.41	0.191	0.15130	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.42275	-0.9461	9	0.38643	T	0.18	.	7.2097	0.25927	0.0:0.7313:0.0:0.2687	.	46	A8MTB9	CEA18_HUMAN	V	46	ENSP00000402203:A46V	ENSP00000402203:A46V	A	+	2	0	CEACAM18	56673662	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.043000	0.12043	-0.121000	0.11787	-0.797000	0.03246	GCT		0.642	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			9	9	0	0	0	1	0	9	9				
COPA	1314	broad.mit.edu	37	1	160309737	160309737	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160309737G>A	ENST00000241704.7	-	3	419	c.190C>T	c.(190-192)Cca>Tca	p.P64S	COPA_ENST00000368069.3_Missense_Mutation_p.P64S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	64					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACGAACAGTGGCTGCTGCTTA	0.458																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(190-192)Cca>Tca		coatomer protein complex, subunit alpha							119.0	123.0	122.0					1																	160309737		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160309737G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.190C>T	1.37:g.160309737G>A	ENSP00000241704:p.Pro64Ser					COPA_ENST00000368069.3_Missense_Mutation_p.P64S	p.P64S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	419	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		64					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.190C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347417	0.95807	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60797	0.16;0.16	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66027	-0.6025	10	0.87932	D	0	-10.1612	18.0991	0.89500	0.0:0.0:1.0:0.0	.	64;64	P53621;P53621-2	COPA_HUMAN;.	S	64	ENSP00000357048:P64S;ENSP00000241704:P64S	ENSP00000241704:P64S	P	-	1	0	COPA	158576361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.177000	0.94849	2.607000	0.88179	0.655000	0.94253	CCA		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		23	35	0	0	0	1	0	23	35				
ASB6	140459	broad.mit.edu	37	9	132400656	132400656	+	Missense_Mutation	SNP	C	C	A	rs374520063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:132400656C>A	ENST00000277458.4	-	6	844	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W	ASB6_ENST00000277459.4_Missense_Mutation_p.E190D|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.G148W	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	227					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TCTTTGTCCCCTCCCACGGTC	0.597																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(679-681)Ggg>Tgg		ankyrin repeat and SOCS box containing 6							70.0	75.0	74.0					9																	132400656		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400656C>A		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.679G>T	9.37:g.132400656C>A	ENSP00000277458:p.Gly227Trp					ASB6_ENST00000450050.2_Missense_Mutation_p.G148W|ASB6_ENST00000277459.4_Missense_Mutation_p.E190D	p.G227W	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	844	-		Ovarian(14;0.00556)	227					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.679G>T	CCDS6924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.549972|3.549972	0.65311|0.65311	.|.	.|.	ENSG00000148331|ENSG00000148331	ENST00000277459|ENST00000277458;ENST00000450050	T|T;T	0.58358|0.71579	0.34|-0.58;0.73	4.45|4.45	4.45|4.45	0.53987|0.53987	.|Ankyrin repeat-containing domain (2);	.|0.244160	.|0.40818	.|N	.|0.001016	T|T	0.75459|0.75459	0.3852|0.3852	.|.	.|.	.|.	0.37383|0.37383	D|D	0.912104|0.912104	B|D;D;D	0.30973|0.58620	0.302|0.983;0.983;0.983	B|P;P;P	0.29785|0.53006	0.107|0.715;0.715;0.715	T|T	0.81378|0.81378	-0.0960|-0.0960	8|9	0.87932|0.66056	D|D	0|0.02	-42.1714|-42.1714	11.4869|11.4869	0.50358|0.50358	0.1795:0.8205:0.0:0.0|0.1795:0.8205:0.0:0.0	.|.	190|148;227;227	Q9NWX5-2|B4DRC4;A8K9U2;Q9NWX5	.|.;.;ASB6_HUMAN	D|W	190|227;148	ENSP00000277459:E190D|ENSP00000277458:G227W;ENSP00000416172:G148W	ENSP00000277459:E190D|ENSP00000277458:G227W	E|G	-|-	3|1	2|0	ASB6|ASB6	131440477|131440477	0.729000|0.729000	0.28090|0.28090	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.996000|1.996000	0.40776|0.40776	2.288000|2.288000	0.76882|0.76882	0.462000|0.462000	0.41574|0.41574	GAG|GGG		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		15	39	1	0	8.60227e-14	1	9.36079e-14	15	39				
COL4A3BP	10087	broad.mit.edu	37	5	74676896	74676896	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74676896C>T	ENST00000405807.4	-	16	2169		c.e16+1		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAAATACATACCATTAGCTAC	0.353																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.e17+1		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							206.0	187.0	194.0					5																	74676896		2203	4300	6503	SO:0001630	splice_region_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74676896C>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1747+1G>A	5.37:g.74676896C>T						COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000405807.4_Splice_Site		NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2425	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)						A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP	ENST00000405807.4	37		CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804761	0.90623	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415;ENST00000508809	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3058	0.98631	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A3BP	74712652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.759000	0.85235	2.789000	0.95967	0.643000	0.83706	.		0.353	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	Intron	27	51	0	0	0	1	0	27	51				
ZNF112	7771	broad.mit.edu	37	19	44833243	44833243	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44833243T>C	ENST00000337401.4	-	5	1173	c.1085A>G	c.(1084-1086)aAc>aGc	p.N362S	ZNF112_ENST00000354340.4_Missense_Mutation_p.N356S|ZNF112_ENST00000536500.1_Missense_Mutation_p.N379S	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCATAAATGTTGTGCCTATA	0.388																																						ENST00000354340.4																			0											c.(1066-1068)aAc>aGc		zinc finger protein 112							105.0	90.0	95.0					19																	44833243		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833243T>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1085A>G	19.37:g.44833243T>C	ENSP00000337081:p.Asn362Ser					ZNF112_ENST00000337401.4_Missense_Mutation_p.N362S|ZNF112_ENST00000536500.1_Missense_Mutation_p.N379S	p.N356S	NM_013380.3	NP_037512.3					4	1118	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1067A>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	8.156	0.788371	0.16258	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.14640	2.49;2.49;2.49	4.71	-4.54	0.03452	.	0.477822	0.15538	N	0.257120	T	0.06554	0.0168	N	0.17631	0.505	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.36065	-0.9763	10	0.18710	T	0.47	-1.1802	9.4903	0.38955	0.0:0.4083:0.4217:0.1699	.	361;379;362	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	S	362;362;356;379;361	ENSP00000337081:N362S;ENSP00000346305:N356S;ENSP00000441990:N379S	ENSP00000253426:N361S	N	-	2	0	ZNF285	49525083	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-1.141000	0.03207	-1.204000	0.02648	0.459000	0.35465	AAC		0.388	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		16	56	0	0	0	1	0	16	56				
CRYGD	1421	broad.mit.edu	37	2	208986563	208986563	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208986563T>C	ENST00000264376.4	-	3	386	c.359A>G	c.(358-360)gAa>gGa	p.E120G		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	120	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGTGGATTTCATTGAAGCG	0.557																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(358-360)gAa>gGa		crystallin, gamma D							118.0	113.0	115.0					2																	208986563		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986563T>C		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.359A>G	2.37:g.208986563T>C	ENSP00000264376:p.Glu120Gly						p.E120G	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	386	-			120			Beta/gamma crystallin 'Greek key' 3.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.359A>G	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085475	0.76642	.	.	ENSG00000118231	ENST00000264376	T	0.77229	-1.08	4.25	4.25	0.50352	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.113504	0.56097	D	0.000022	D	0.86339	0.5909	M	0.85542	2.76	0.29994	N	0.816585	D	0.58268	0.982	P	0.61003	0.882	D	0.84168	0.0432	10	0.56958	D	0.05	.	11.3881	0.49798	0.0:0.0:0.0:1.0	.	120	P07320	CRGD_HUMAN	G	120	ENSP00000264376:E120G	ENSP00000264376:E120G	E	-	2	0	CRYGD	208694808	0.986000	0.35501	0.347000	0.25668	0.961000	0.63080	4.577000	0.60922	1.790000	0.52503	0.454000	0.30748	GAA		0.557	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		31	58	0	0	0	1	0	31	58				
SEPT7	989	broad.mit.edu	37	7	35913364	35913364	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:35913364T>C	ENST00000435235.1	+	5	764	c.332T>C	c.(331-333)tTc>tCc	p.F111S	SEPT7_ENST00000494488.2_Missense_Mutation_p.F150S|SEPT7_ENST00000399034.2_Missense_Mutation_p.F165S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.F163S|SEPT7_ENST00000399035.3_Missense_Mutation_p.F163S|SEPT7_ENST00000350320.6_Missense_Mutation_p.F163S			Q16181	SEPT7_HUMAN	septin 7	164	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TGTTTATACTTCATTGCTCCT	0.383																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(448-450)tTc>tCc		septin 7							104.0	95.0	98.0					7																	35913364		1913	4124	6037	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35913364T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.332T>C	7.37:g.35913364T>C	ENSP00000413507:p.Phe111Ser					SEPT7_ENST00000399034.2_Missense_Mutation_p.F165S|SEPT7_ENST00000350320.6_Missense_Mutation_p.F163S|SEPT7_ENST00000435235.1_Missense_Mutation_p.F111S|SEPT7_ENST00000469679.2_Missense_Mutation_p.F163S|SEPT7_ENST00000399035.3_Missense_Mutation_p.F163S|SEPT7_ENST00000475109.1_3'UTR	p.F150S			Q16181	SEPT7_HUMAN			5	449	+			164					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.449T>C		.	.	.	.	.	.	.	.	.	.	T	27.3	4.819155	0.90873	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.80123	-1.34;1.36;1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	U	0.000000	D	0.93520	0.7932	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95840	0.8865	10	0.87932	D	0	.	15.2116	0.73227	0.0:0.0:0.0:1.0	.	109;163;164	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	S	111;165;163;163;163;109;111;150	ENSP00000413507:F111S;ENSP00000381992:F165S;ENSP00000344868:F163S;ENSP00000444501:F163S;ENSP00000381993:F163S;ENSP00000438395:F150S	ENSP00000344868:F163S	F	+	2	0	SEPT7	35879889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.037000	0.88933	2.067000	0.61834	0.524000	0.50904	TTC		0.383	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		33	125	0	0	0	1	0	33	125				
RBBP4	5928	broad.mit.edu	37	1	33123147	33123147	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33123147C>T	ENST00000373493.5	+	3	443	c.284C>T	c.(283-285)gCg>gTg	p.A95V	RBBP4_ENST00000373485.1_Missense_Mutation_p.A95V|RBBP4_ENST00000414241.3_Missense_Mutation_p.A94V|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.A60V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	95					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTTTGATGCGTCACACTAC	0.423																																						ENST00000373493.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(283-285)gCg>gTg		retinoblastoma binding protein 4							118.0	98.0	105.0					1																	33123147		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33123147C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.284C>T	1.37:g.33123147C>T	ENSP00000362592:p.Ala95Val					RBBP4_ENST00000414241.3_Missense_Mutation_p.A94V|RBBP4_ENST00000458695.2_Missense_Mutation_p.A60V|RBBP4_ENST00000373485.1_Missense_Mutation_p.A95V|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron	p.A95V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN			3	443	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	95					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.284C>T	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268831	0.80469	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.69926	-0.4;-0.44;-0.33;-0.43	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55834	1.745	0.80722	D	1	B;B	0.23185	0.02;0.081	B;B	0.20184	0.027;0.028	T	0.58923	-0.7550	10	0.27785	T	0.31	.	17.9525	0.89058	0.0:1.0:0.0:0.0	.	94;95	Q09028-2;Q09028	.;RBBP4_HUMAN	V	94;95;95;60;60;60	ENSP00000398242:A94V;ENSP00000362592:A95V;ENSP00000362584:A95V;ENSP00000396057:A60V	ENSP00000362584:A95V	A	+	2	0	RBBP4	32895734	1.000000	0.71417	0.987000	0.45799	0.914000	0.54420	7.734000	0.84928	2.559000	0.86315	0.491000	0.48974	GCG		0.423	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		20	34	0	0	0	1	0	20	34				
GNB1L	54584	broad.mit.edu	37	22	19776365	19776365	+	Missense_Mutation	SNP	G	G	A	rs73148914	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19776365G>A	ENST00000329517.6	-	8	1087	c.851C>T	c.(850-852)aCg>aTg	p.T284M	GNB1L_ENST00000403325.1_Missense_Mutation_p.T284M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	284					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGGCTGCATCGTCCGCCAGTG	0.687													G|||	30	0.00599042	0.0015	0.0029	5008	,	,		16293	0.0		0.0249	False		,,,				2504	0.001					ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(850-852)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like		G	MET/THR	19,4361		0,19,2171	28.0	28.0	28.0		851	3.4	0.7	22	dbSNP_130	28	207,8357		1,205,4076	yes	missense	GNB1L	NM_053004.2	81	1,224,6247	AA,AG,GG		2.4171,0.4338,1.746	probably-damaging	284/328	19776365	226,12718	2190	4282	6472	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19776365G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.851C>T	22.37:g.19776365G>A	ENSP00000331313:p.Thr284Met					GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.T284M	p.T284M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			8	1087	-	Colorectal(54;0.0993)		284					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.851C>T	CCDS13768.1	23	0.010531135531135532	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	20	0.026385224274406333	G	13.86	2.363950	0.41902	0.004338	0.024171	ENSG00000185838	ENST00000329517;ENST00000403325	T;T	0.22743	1.94;1.94	5.53	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.196671	0.41823	U	0.000810	T	0.09686	0.0238	M	0.85041	2.73	0.80722	D	1	D	0.55385	0.971	B	0.40329	0.326	T	0.04664	-1.0935	10	0.66056	D	0.02	-16.4818	8.1334	0.31039	0.0:0.1138:0.411:0.4751	.	284	Q9BYB4	GNB1L_HUMAN	M	284	ENSP00000331313:T284M;ENSP00000385154:T284M	ENSP00000331313:T284M	T	-	2	0	GNB1L	18156365	0.998000	0.40836	0.724000	0.30704	0.077000	0.17291	2.869000	0.48444	1.346000	0.45694	-0.152000	0.13540	ACG		0.687	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			10	18	0	0	0	1	0	10	18				
AP2A1	160	broad.mit.edu	37	19	50304787	50304787	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50304787C>T	ENST00000359032.5	+	13	1694	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	AP2A1_ENST00000354293.5_Missense_Mutation_p.A565V	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	565					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTCCTGCGGGCCGGCTCCCAG	0.662																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1693-1695)gCc>gTc		adaptor-related protein complex 2, alpha 1 subunit							44.0	46.0	45.0					19																	50304787		2095	4221	6316	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50304787C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1694C>T	19.37:g.50304787C>T	ENSP00000351926:p.Ala565Val					AP2A1_ENST00000359032.5_Missense_Mutation_p.A565V	p.A565V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	13	1860	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	565					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1694C>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506401	0.26949	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.26223	1.75;1.75	4.88	4.88	0.63580	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.118916	0.56097	D	0.000029	T	0.25754	0.0627	L	0.38175	1.15	0.32909	D	0.514248	B;P	0.36086	0.029;0.536	B;B	0.40256	0.062;0.324	T	0.22103	-1.0226	10	0.27785	T	0.31	.	16.9651	0.86283	0.0:1.0:0.0:0.0	.	565;565	O95782-2;O95782	.;AP2A1_HUMAN	V	565	ENSP00000346246:A565V;ENSP00000351926:A565V	ENSP00000346246:A565V	A	+	2	0	AP2A1	54996599	0.093000	0.21703	1.000000	0.80357	0.876000	0.50452	0.637000	0.24659	2.535000	0.85469	0.442000	0.29010	GCC		0.662	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			16	37	0	0	0	1	0	16	37				
SORL1	6653	broad.mit.edu	37	11	121458730	121458730	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121458730G>A	ENST00000260197.7	+	28	3945	c.3816G>A	c.(3814-3816)gaG>gaA	p.E1272E	SORL1_ENST00000534286.1_Splice_Site_p.E182E|SORL1_ENST00000525532.1_Splice_Site_p.E216E|SORL1_ENST00000527934.1_5'Flank|SORL1_ENST00000532694.1_Splice_Site_p.E118E	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1272	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCCTTACAGAGCCCCTCTGTA	0.587																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.e28-1		sortilin-related receptor, L(DLR class) A repeats containing							128.0	109.0	116.0					11																	121458730		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121458730G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3815-1G>A	11.37:g.121458730G>A						SORL1_ENST00000525532.1_Splice_Site_p.E216_splice|SORL1_ENST00000532694.1_Splice_Site_p.E118_splice|SORL1_ENST00000534286.1_Splice_Site_p.E182_splice	p.E1272_splice	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	28	3945	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1272			LDL-receptor class A 5.		B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.3814_splice	CCDS8436.1																																																																																				0.587	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Silent	11	24	0	0	0	1	0	11	24				
MUC7	4589	broad.mit.edu	37	4	71339748	71339748	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:71339748C>T	ENST00000304887.5	+	2	200	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	MUC7_ENST00000413702.1_Silent_p.L4L|MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Silent_p.L4L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	4					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AATGAAAACTCTGCCGCTGTT	0.373																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(10-12)Ctg>Ttg		mucin 7, secreted							126.0	123.0	124.0					4																	71339748		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71339748C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.10C>T	4.37:g.71339748C>T						MUC7_ENST00000304887.5_Silent_p.L4L|MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Silent_p.L4L	p.L4L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	298	+			4					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.10C>T	CCDS3541.1																																																																																				0.373	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		9	44	0	0	0	1	0	9	44				
UGT3A2	167127	broad.mit.edu	37	5	36039601	36039601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36039601C>T	ENST00000282507.3	-	5	1154	c.1053G>A	c.(1051-1053)tgG>tgA	p.W351*	UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.W49*|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.W317*|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	351					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGAGGAAGCCAGTCCACAA	0.542																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(1051-1053)tgG>tgA		UDP glycosyltransferase 3 family, polypeptide A2							116.0	103.0	108.0					5																	36039601		2203	4300	6503	SO:0001587	stop_gained	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36039601C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1053G>A	5.37:g.36039601C>T	ENSP00000282507:p.Trp351*					UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.W317*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.W49*	p.W351*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1154	-	all_lung(31;0.000179)		351					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	ENST00000282507.3	37	c.1053G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714682	0.68730	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	.	.	.	3.45	2.56	0.30785	.	0.082213	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4818	0.55847	0.0:0.8291:0.1709:0.0	.	.	.	.	X	351;317;49	.	ENSP00000282507:W351X	W	-	3	0	UGT3A2	36075358	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	3.616000	0.54174	1.008000	0.39264	0.655000	0.94253	TGG		0.542	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		16	33	0	0	0	1	0	16	33				
VPS13A	23230	broad.mit.edu	37	9	79890990	79890990	+	Missense_Mutation	SNP	G	G	A	rs200038733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79890990G>A	ENST00000360280.3	+	26	2937	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	VPS13A_ENST00000357409.5_Missense_Mutation_p.E893K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E893K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E893K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	893					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTTTTGATCGAGTTTTATCA	0.328																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2677-2679)Gag>Aag		vacuolar protein sorting 13 homolog A (S. cerevisiae)		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4404		0,0,2202	96.0	96.0	96.0		2677,2677,2677,2677	4.0	1.0	9		96	1,8599		0,1,4299	yes	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	56,56,56,56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	893/3136,893/3070,893/3096,893/3175	79890990	1,13003	2202	4300	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79890990G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2677G>A	9.37:g.79890990G>A	ENSP00000353422:p.Glu893Lys					VPS13A_ENST00000357409.5_Missense_Mutation_p.E893K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E893K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E893K	p.E893K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			26	2937	+			893					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2677G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808699	0.16467	0.0	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.82	3.97	0.46021	.	0.292615	0.33217	N	0.005153	T	0.10121	0.0248	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.17465	0.002;0.005;0.022;0.009	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.16335	-1.0406	10	0.23302	T	0.38	.	10.6506	0.45647	0.1344:0.5858:0.2798:0.0	.	893;893;893;893	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	893	ENSP00000365821:E893K;ENSP00000365823:E893K;ENSP00000353422:E893K;ENSP00000349985:E893K	ENSP00000349985:E893K	E	+	1	0	VPS13A	79080810	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	2.574000	0.46016	0.790000	0.33803	-0.344000	0.07964	GAG		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		8	42	0	0	0	1	0	8	42				
NIPAL4	348938	broad.mit.edu	37	5	156899810	156899810	+	Missense_Mutation	SNP	G	G	A	rs367993555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156899810G>A	ENST00000311946.7	+	6	1359	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A396T	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	415						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CATCAGCTGCGCCAGCTTGCC	0.537																																						ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(1243-1245)Gcc>Acc		NIPA-like domain containing 4							64.0	61.0	62.0					5																	156899810		2058	4219	6277	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899810G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1243G>A	5.37:g.156899810G>A	ENSP00000311687:p.Ala415Thr					NIPAL4_ENST00000435489.2_Missense_Mutation_p.A396T|ADAM19_ENST00000430702.2_Intron	p.A415T	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			6	1359	+			415					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1243G>A	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659845	0.29515	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90324	-2.64;-2.65	5.93	0.785	0.18584	.	1.205080	0.05505	N	0.559070	T	0.76863	0.4047	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.62868	-0.6763	10	0.16896	T	0.51	-8.9001	1.7096	0.02889	0.3858:0.1308:0.3517:0.1318	.	396;415	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	T	396;415	ENSP00000406456:A396T;ENSP00000311687:A415T	ENSP00000311687:A415T	A	+	1	0	NIPAL4	156832388	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	0.881000	0.28173	0.124000	0.18369	0.561000	0.74099	GCC		0.537	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		15	17	0	0	0	1	0	15	17				
NLGN3	54413	broad.mit.edu	37	X	70367895	70367895	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70367895C>T	ENST00000358741.3	+	2	599	c.296C>T	c.(295-297)gCc>gTc	p.A99V	NLGN3_ENST00000374051.3_Missense_Mutation_p.A99V|NLGN3_ENST00000536169.1_Missense_Mutation_p.A99V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	99					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ATCCGGAACGCCACACACTTT	0.617																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(295-297)gCc>gTc		neuroligin 3							81.0	56.0	64.0					X																	70367895		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367895C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.296C>T	X.37:g.70367895C>T	ENSP00000351591:p.Ala99Val					NLGN3_ENST00000536169.1_Missense_Mutation_p.A99V|NLGN3_ENST00000358741.3_Missense_Mutation_p.A99V	p.A99V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	618	+	Renal(35;0.156)		99					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.296C>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266134	0.80358	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.41	4.41	0.53225	.	0.312041	0.34002	N	0.004350	T	0.80166	0.4573	M	0.82823	2.61	0.80722	D	1	P;P;B	0.40534	0.634;0.72;0.232	B;B;B	0.38562	0.276;0.212;0.053	D	0.84727	0.0743	10	0.66056	D	0.02	.	16.4169	0.83745	0.0:1.0:0.0:0.0	.	99;99;99	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	V	99	ENSP00000445298:A99V;ENSP00000363163:A99V;ENSP00000379196:A99V;ENSP00000351591:A99V	ENSP00000351591:A99V	A	+	2	0	NLGN3	70284620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.044000	0.60594	0.436000	0.28706	GCC		0.617	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		12	5	0	0	0	1	0	12	5				
SLC30A5	64924	broad.mit.edu	37	5	68410309	68410309	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68410309G>A	ENST00000396591.3	+	7	1208	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	200					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTCTTAGGTGTGGCAGATCA	0.338																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Gtg>Atg		solute carrier family 30 (zinc transporter), member 5							123.0	114.0	117.0					5																	68410309		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68410309G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.598G>A	5.37:g.68410309G>A	ENSP00000379836:p.Val200Met					CTC-498J12.3_ENST00000504129.1_RNA	p.V200M	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	7	1208	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	200					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.598G>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216614	0.58452	.	.	ENSG00000145740	ENST00000396591	T	0.65178	-0.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	L	0.47716	1.5	0.80722	D	1	D;D	0.56746	0.977;0.974	P;P	0.56648	0.803;0.667	T	0.68213	-0.5468	10	0.40728	T	0.16	-9.5564	19.3178	0.94223	0.0:0.0:1.0:0.0	.	29;200	Q8TAD4-2;Q8TAD4	.;ZNT5_HUMAN	M	200	ENSP00000379836:V200M	ENSP00000379836:V200M	V	+	1	0	SLC30A5	68446065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.667000	0.90743	0.655000	0.94253	GTG		0.338	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			24	29	0	0	0	1	0	24	29				
NFKB1	4790	broad.mit.edu	37	4	103514669	103514669	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103514669G>A	ENST00000505458.1	+	12	1428	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	NFKB1_ENST00000600343.1_Missense_Mutation_p.G204D|NFKB1_ENST00000226574.4_Missense_Mutation_p.G385D|NFKB1_ENST00000394820.4_Missense_Mutation_p.G384D			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	384	GRR.|Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGAGCTGGAGGCGGAGGCATG	0.468																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1153-1155)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						115.0	131.0	125.0					4																	103514669		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103514669G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1151G>A	4.37:g.103514669G>A	ENSP00000424790:p.Gly384Asp					NFKB1_ENST00000600343.1_Missense_Mutation_p.G204D|NFKB1_ENST00000505458.1_Missense_Mutation_p.G384D|NFKB1_ENST00000394820.4_Missense_Mutation_p.G384D	p.G385D	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	12	1621	+		Hepatocellular(203;0.217)	384			GRR.|Gly-rich.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1154G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997603	0.74818	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.56103	0.51;0.48;0.48;1.58	4.74	4.74	0.60224	Immunoglobulin E-set (1);	0.236840	0.31404	N	0.007717	T	0.65749	0.2721	L	0.53249	1.67	0.46564	D	0.9991	D;D;D	0.63046	0.992;0.99;0.979	P;P;P	0.59761	0.863;0.734;0.837	T	0.69847	-0.5034	10	0.66056	D	0.02	.	17.7398	0.88404	0.0:0.0:1.0:0.0	.	204;384;385	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	D	385;384;384;178	ENSP00000226574:G385D;ENSP00000378297:G384D;ENSP00000424790:G384D;ENSP00000424815:G178D	ENSP00000226574:G385D	G	+	2	0	NFKB1	103733707	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	4.705000	0.61838	2.165000	0.68154	0.462000	0.41574	GGC		0.468	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	91	0	0	0	1	0	6	91				
NR4A3	8013	broad.mit.edu	37	9	102626117	102626117	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:102626117G>A	ENST00000395097.2	+	8	2578	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	NR4A3_ENST00000330847.1_Missense_Mutation_p.D628N	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	617					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTCCATCATTGACAAGCTCTT	0.557			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(1882-1884)Gac>Aac		nuclear receptor subfamily 4, group A, member 3							83.0	73.0	76.0					9																	102626117		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102626117G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1849G>A	9.37:g.102626117G>A	ENSP00000378531:p.Asp617Asn					NR4A3_ENST00000395097.2_Missense_Mutation_p.D617N	p.D628N			Q92570	NR4A3_HUMAN			7	1926	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	617					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1882G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171964	0.78452	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.50813	0.73;0.73	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);	0.046901	0.85682	D	0.000000	T	0.47820	0.1466	L	0.48642	1.525	0.80722	D	1	P;P	0.39535	0.518;0.677	B;B	0.38458	0.162;0.274	T	0.50083	-0.8869	10	0.72032	D	0.01	.	20.3325	0.98724	0.0:0.0:1.0:0.0	.	628;617	Q92570-3;Q92570	.;NR4A3_HUMAN	N	617;628	ENSP00000378531:D617N;ENSP00000333122:D628N	ENSP00000333122:D628N	D	+	1	0	NR4A3	101665938	1.000000	0.71417	0.994000	0.49952	0.712000	0.41017	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAC		0.557	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			20	24	0	0	0	1	0	20	24				
NDST4	64579	broad.mit.edu	37	4	115997287	115997287	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:115997287C>T	ENST00000264363.2	-	2	1584	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	302	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAAGGATGTACCTGTCCAAGG	0.403																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(904-906)agG>agA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							148.0	130.0	136.0					4																	115997287		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997287C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.906G>A	4.37:g.115997287C>T							p.R302R	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1584	-		Ovarian(17;0.156)	302			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.906G>A	CCDS3706.1																																																																																				0.403	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		24	48	0	0	0	1	0	24	48				
PCDHB15	56121	broad.mit.edu	37	5	140627138	140627138	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140627138C>T	ENST00000231173.3	+	1	1992	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCTC	0.687																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1990-1992)gaC>gaT									45.0	48.0	47.0					5																	140627138		2192	4285	6477	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627138C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1992C>T	5.37:g.140627138C>T							p.D664D	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1992	+			664			Cadherin 6.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1992C>T	CCDS4257.1																																																																																				0.687	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		22	36	0	0	0	1	0	22	36				
DLK2	65989	broad.mit.edu	37	6	43418773	43418773	+	Missense_Mutation	SNP	C	C	T	rs146272567		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43418773C>T	ENST00000357338.3	-	6	1356	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DLK2_ENST00000372488.3_Missense_Mutation_p.R219H|DLK2_ENST00000414245.1_Missense_Mutation_p.R213H|DLK2_ENST00000372485.1_Missense_Mutation_p.R213H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R219H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCATGGGCGGCTGGCACA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19503	0.0		0.0	False		,,,				2504	0.0					ENST00000357338.3																			1	Substitution - Missense(1)	p.R219H(1)	endometrium(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(655-657)cGc>cAc		delta-like 2 homolog (Drosophila)		C	HIS/ARG,HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	59.0	62.0	61.0		656,656	-3.5	0.3	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense,missense	DLK2	NM_023932.2,NM_206539.1	29,29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging,probably-damaging	219/384,219/384	43418773	8,12998	2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418773C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.656G>A	6.37:g.43418773C>T	ENSP00000349893:p.Arg219His					DLK2_ENST00000414245.1_Missense_Mutation_p.R213H|DLK2_ENST00000372485.1_Missense_Mutation_p.R213H|DLK2_ENST00000372488.3_Missense_Mutation_p.R219H	p.R219H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1356	-	all_lung(25;0.00536)		219			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.656G>A	CCDS4897.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	11.81|11.81	1.750614|1.750614	0.31046|0.31046	0.001816|0.001816	0.0|0.0	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87334	.|-2.24;-2.24;-2.24;-2.24	4.94|4.94	-3.51|-3.51	0.04696|0.04696	.|EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.328631	.|0.33534	.|N	.|0.004806	T|T	0.53077|0.53077	0.1774|0.1774	N|N	0.10645|0.10645	0.015|0.015	0.26900|0.26900	N|N	0.967139|0.967139	.|B	.|0.12013	.|0.005	.|B	.|0.09377	.|0.004	T|T	0.38950|0.38950	-0.9637|-0.9637	5|10	.|0.34782	.|T	.|0.22	.|.	14.2527|14.2527	0.66031|0.66031	0.0:0.2844:0.0:0.7156|0.0:0.2844:0.0:0.7156	.|.	.|219	.|Q6UY11	.|DLK2_HUMAN	T|H	125|213;219;219;213	.|ENSP00000361563:R213H;ENSP00000361566:R219H;ENSP00000349893:R219H;ENSP00000398906:R213H	.|ENSP00000349893:R219H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526751|43526751	0.076000|0.076000	0.21285|0.21285	0.321000|0.321000	0.25320|0.25320	0.989000|0.989000	0.77384|0.77384	-0.315000|-0.315000	0.08081|0.08081	-1.088000|-1.088000	0.03077|0.03077	-0.368000|-0.368000	0.07277|0.07277	GCC|CGC		0.617	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		13	31	0	0	0	1	0	13	31				
OR5H14	403273	broad.mit.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97868711G>A	ENST00000437310.1	+	1	542	c.482G>A	c.(481-483)gGa>gAa	p.G161E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(481-483)gGa>gAa		olfactory receptor, family 5, subfamily H, member 14							102.0	104.0	103.0					3																	97868711		2202	4300	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868711G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.482G>A	3.37:g.97868711G>A	ENSP00000401706:p.Gly161Glu						p.G161E	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	542	+			161					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.482G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	7.995	0.754074	0.15778	.	.	ENSG00000236032	ENST00000437310	T	0.37411	1.2	2.49	-1.46	0.08800	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09201	N	0.834639	T	0.43743	0.1261	M	0.83118	2.625	0.09310	N	1	P	0.40731	0.728	P	0.45794	0.493	T	0.37641	-0.9697	10	0.37606	T	0.19	.	5.877	0.18834	0.0:0.4119:0.268:0.3201	.	161	A6NHG9	O5H14_HUMAN	E	161	ENSP00000401706:G161E	ENSP00000401706:G161E	G	+	2	0	OR5H14	99351401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.034000	0.01424	-0.640000	0.05495	-1.112000	0.02068	GGA		0.348	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			49	119	0	0	0	1	0	49	119				
C11orf58	10944	broad.mit.edu	37	11	16760273	16760273	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:16760273G>A	ENST00000228136.4	+	0	326				C11orf58_ENST00000422258.2_De_novo_Start_OutOfFrame|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_De_novo_Start_OutOfFrame			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58											NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TGGTTTTGCGGCTGGGAAGAG	0.627																																						ENST00000228136.4																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7								chromosome 11 open reading frame 58							11.0	16.0	14.0					11																	16760273		691	1590	2281			10944							g.chr11:16760273G>A	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.-53G>A	11.37:g.16760273G>A						C11orf58_ENST00000422258.2_De_novo_Start_OutOfFrame|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_De_novo_Start_OutOfFrame				O00193	SMAP_HUMAN			0	326	+								B2RD28	Translation_Start_Site	SNP	ENST00000228136.4	37		CCDS7822.1																																																																																				0.627	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		11	24	0	0	0	1	0	11	24				
BCL11A	53335	broad.mit.edu	37	2	60695920	60695920	+	Missense_Mutation	SNP	C	C	T	rs148400140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60695920C>T	ENST00000335712.6	-	3	661	c.434G>A	c.(433-435)gGa>gAa	p.G145E	BCL11A_ENST00000359629.5_Missense_Mutation_p.G145E|BCL11A_ENST00000356842.4_Missense_Mutation_p.G145E|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	145	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GATTAGAGCTCCATGTGCAGA	0.468			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(433-435)gGa>gAa		B-cell CLL/lymphoma 11A (zinc finger protein)		C	GLU/GLY,GLU/GLY,GLU/GLY	0,4406		0,0,2203	68.0	68.0	68.0		434,434,434	5.2	1.0	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCL11A	NM_018014.3,NM_022893.3,NM_138559.1	98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	145/774,145/836,145/244	60695920	1,13005	2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60695920C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.434G>A	2.37:g.60695920C>T	ENSP00000338774:p.Gly145Glu					BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.G145E|BCL11A_ENST00000359629.5_Missense_Mutation_p.G145E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000538214.1_Intron	p.G145E	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	661	-			145			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.434G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514584	0.44763	0.0	1.16E-4	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000335712	T;T	0.06849	3.25;3.54	5.21	5.21	0.72293	.	0.524486	0.17985	N	0.155400	T	0.14830	0.0358	L	0.34521	1.04	0.80722	D	1	B;D;B	0.69078	0.0;0.997;0.001	B;D;B	0.70487	0.0;0.969;0.0	T	0.01661	-1.1301	10	0.02654	T	1	-1.3486	14.1117	0.65126	0.0:1.0:0.0:0.0	.	145;145;145	Q9H165;Q9H165-3;D9YZV9	BC11A_HUMAN;.;.	E	145;145;181;145	ENSP00000349300:G145E;ENSP00000338774:G145E	ENSP00000338774:G145E	G	-	2	0	BCL11A	60549424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.939000	0.56591	2.710000	0.92621	0.591000	0.81541	GGA		0.468	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		11	25	0	0	0	1	0	11	25				
TTLL11	158135	broad.mit.edu	37	9	124751448	124751448	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124751448G>A	ENST00000373776.3	-	4	1752	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	522	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGCTGGAAACGCAGGCTGGGA	0.617																																						ENST00000373776.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(1564-1566)gCg>gTg		tubulin tyrosine ligase-like family, member 11							73.0	72.0	72.0					9																	124751448		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751448G>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1565C>T	9.37:g.124751448G>A	ENSP00000362881:p.Ala522Val					TTLL11_ENST00000321582.5_Intron|TTLL11_ENST00000474723.1_Intron	p.A522V	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN			4	1752	-			522			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1565C>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342604	0.24339	.	.	ENSG00000175764	ENST00000373776	T	0.06768	3.26	3.22	2.08	0.27032	.	4.097190	0.02957	N	0.142561	T	0.04634	0.0126	N	0.08118	0	0.23906	N	0.996508	B	0.34349	0.45	B	0.19148	0.024	T	0.30327	-0.9982	10	0.87932	D	0	.	6.5411	0.22380	0.0:0.0:0.2693:0.7307	.	522	Q8NHH1	TTL11_HUMAN	V	522	ENSP00000362881:A522V	ENSP00000362881:A522V	A	-	2	0	TTLL11	123791269	0.001000	0.12720	0.005000	0.12908	0.021000	0.10359	0.306000	0.19279	0.625000	0.30304	-0.535000	0.04281	GCG		0.617	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		18	40	0	0	0	1	0	18	40				
ZC3H12B	340554	broad.mit.edu	37	X	64722867	64722867	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:64722867C>T	ENST00000338957.4	+	5	2356	c.2289C>T	c.(2287-2289)agC>agT	p.S763S	ZC3H12B_ENST00000423889.3_Silent_p.S752S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	763							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTACGGAGCGTGCCTGAAA	0.512																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2287-2289)agC>agT		zinc finger CCCH-type containing 12B							115.0	113.0	114.0					X																	64722867		2176	4262	6438	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722867C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2289C>T	X.37:g.64722867C>T						ZC3H12B_ENST00000423889.3_Silent_p.S752S	p.S763S	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2356	+			752					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.2289C>T	CCDS48131.2																																																																																				0.512	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		21	3	0	0	0	1	0	21	3				
NOX3	50508	broad.mit.edu	37	6	155776897	155776897	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155776897G>A	ENST00000159060.2	-	1	140	c.38C>T	c.(37-39)aCc>aTc	p.T13I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	13					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TACTAATATGGTGGAGAGACC	0.368																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(37-39)aCc>aTc		NADPH oxidase 3							89.0	85.0	86.0					6																	155776897		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155776897G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.38C>T	6.37:g.155776897G>A	ENSP00000159060:p.Thr13Ile						p.T13I	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	1	140	-		Breast(66;0.0183)	13					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.38C>T	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.270339	0.00257	.	.	ENSG00000074771	ENST00000159060	D	0.95238	-3.65	6.16	-2.13	0.07144	.	1.750600	0.02527	N	0.093231	T	0.63129	0.2485	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67448	-0.5668	10	0.22109	T	0.4	-0.0045	7.1199	0.25437	0.5899:0.1104:0.2996:0.0	.	13	Q9HBY0	NOX3_HUMAN	I	13	ENSP00000159060:T13I	ENSP00000159060:T13I	T	-	2	0	NOX3	155818589	0.028000	0.19301	0.000000	0.03702	0.004000	0.04260	1.748000	0.38308	-0.538000	0.06281	-2.258000	0.00281	ACC		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			23	37	0	0	0	1	0	23	37				
MEIS2	4212	broad.mit.edu	37	15	37388508	37388508	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37388508G>A	ENST00000561208.1	-	3	787	c.369C>T	c.(367-369)atC>atT	p.I123I	MEIS2_ENST00000444725.1_Silent_p.I123I|MEIS2_ENST00000397620.2_Silent_p.I35I|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Silent_p.I110I|MEIS2_ENST00000382766.2_Silent_p.I123I|MEIS2_ENST00000340545.5_Silent_p.I110I|MEIS2_ENST00000397624.3_Silent_p.I35I|MEIS2_ENST00000338564.5_Silent_p.I123I|MEIS2_ENST00000559561.1_Silent_p.I123I|MEIS2_ENST00000424352.2_Silent_p.I123I|MEIS2_ENST00000559085.1_Silent_p.I110I			O14770	MEIS2_HUMAN	Meis homeobox 2	123	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGAAGACCGCGATGTCCTCGT	0.597																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(367-369)atC>atT		Meis homeobox 2							43.0	38.0	40.0					15																	37388508		2201	4297	6498	SO:0001819	synonymous_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37388508G>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.369C>T	15.37:g.37388508G>A						MEIS2_ENST00000382766.2_Silent_p.I123I|MEIS2_ENST00000561208.1_Silent_p.I123I|MEIS2_ENST00000397624.3_Silent_p.I35I|MEIS2_ENST00000340545.5_Silent_p.I110I|MEIS2_ENST00000397620.2_Silent_p.I35I|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000444725.1_Silent_p.I123I|MEIS2_ENST00000424352.2_Silent_p.I123I|MEIS2_ENST00000559561.1_Silent_p.I123I|MEIS2_ENST00000559085.1_Silent_p.I110I|MEIS2_ENST00000557796.2_Silent_p.I110I	p.I123I	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	4	815	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	123					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.369C>T	CCDS10044.1																																																																																				0.597	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		3	6	0	0	0	1	0	3	6				
LRBA	987	broad.mit.edu	37	4	151749738	151749738	+	Missense_Mutation	SNP	C	C	T	rs572144304		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151749738C>T	ENST00000357115.3	-	30	5008	c.4765G>A	c.(4765-4767)Gca>Aca	p.A1589T	LRBA_ENST00000510413.1_Missense_Mutation_p.A1589T|LRBA_ENST00000535741.1_Missense_Mutation_p.A1589T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1589T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1589						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCCACTGATGCCGTAGTTAAA	0.403																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4765-4767)Gca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							298.0	278.0	285.0					4																	151749738		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749738C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4765G>A	4.37:g.151749738C>T	ENSP00000349629:p.Ala1589Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A1589T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1589T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1589T	p.A1589T			P50851	LRBA_HUMAN			30	5238	-	all_hematologic(180;0.151)		1589					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4765G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.645949	0.03531	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54071	1.0;1.16;1.01;0.59	5.35	-0.167	0.13347	.	2.700550	0.01213	N	0.007892	T	0.29588	0.0738	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.14172	-1.0482	10	0.07990	T	0.79	.	3.3012	0.06984	0.1429:0.4993:0.2178:0.14	.	1589;1589	P50851;P50851-2	LRBA_HUMAN;.	T	1589	ENSP00000446299:A1589T;ENSP00000421552:A1589T;ENSP00000349629:A1589T;ENSP00000422180:A1589T	ENSP00000349629:A1589T	A	-	1	0	LRBA	151969188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.172000	0.16704	0.172000	0.19760	-0.300000	0.09419	GCA		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			27	192	0	0	0	1	0	27	192				
FAM129B	64855	broad.mit.edu	37	9	130269199	130269199	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130269199C>A	ENST00000373312.3	-	14	2379	c.2166G>T	c.(2164-2166)caG>caT	p.Q722H	FAM129B_ENST00000468379.1_5'Flank|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q709H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	722					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGACACCTGCTCTCCAG	0.677																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(2164-2166)caG>caT		family with sequence similarity 129, member B							58.0	57.0	57.0					9																	130269199		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130269199C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2166G>T	9.37:g.130269199C>A	ENSP00000362409:p.Gln722His					FAM129B_ENST00000373314.3_Missense_Mutation_p.Q709H	p.Q722H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			14	2379	-			722					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.2166G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564441	0.45694	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24151	1.87;1.87	4.84	1.74	0.24563	.	0.768703	0.12287	N	0.482360	T	0.18045	0.0433	L	0.36672	1.1	0.32047	N	0.597463	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15838	-1.0423	10	0.62326	D	0.03	-28.445	4.5663	0.12187	0.0:0.6141:0.1822:0.2037	.	709;722	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	709;372;722	ENSP00000362411:Q709H;ENSP00000362409:Q722H	ENSP00000362409:Q722H	Q	-	3	2	FAM129B	129309020	0.000000	0.05858	1.000000	0.80357	0.871000	0.50021	-0.050000	0.11904	0.444000	0.26612	0.561000	0.74099	CAG		0.677	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		22	27	1	0	9.95505e-16	1	1.0907e-15	22	27				
OXCT1	5019	broad.mit.edu	37	5	41762226	41762226	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41762226T>C	ENST00000196371.5	-	14	1485	c.1325A>G	c.(1324-1326)gAg>gGg	p.E442G	OXCT1_ENST00000509987.1_Missense_Mutation_p.E256G|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.E45G|OXCT1_ENST00000512084.1_Missense_Mutation_p.E45G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	442					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TGCAGAATGCTCCATGGTGAC	0.438																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1324-1326)gAg>gGg		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						279.0	244.0	256.0					5																	41762226		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41762226T>C	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1325A>G	5.37:g.41762226T>C	ENSP00000196371:p.Glu442Gly					OXCT1_ENST00000510634.1_Missense_Mutation_p.E45G|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.E256G|OXCT1_ENST00000512084.1_Missense_Mutation_p.E45G	p.E442G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			14	1485	-			442					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1325A>G	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745879	0.89663	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.97	4.97	0.65823	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	H	0.95043	3.615	0.80722	D	1	D	0.62365	0.991	P	0.61940	0.896	D	0.96709	0.9524	10	0.87932	D	0	-17.7796	13.9433	0.64069	0.0:0.0:0.0:1.0	.	442	P55809	SCOT1_HUMAN	G	442;45;45;256	ENSP00000196371:E442G;ENSP00000421143:E45G;ENSP00000423144:E45G;ENSP00000425348:E256G	ENSP00000196371:E442G	E	-	2	0	OXCT1	41797983	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.176000	0.77643	1.973000	0.57446	0.533000	0.62120	GAG		0.438	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		6	111	0	0	0	1	0	6	111				
NLRP14	338323	broad.mit.edu	37	11	7064751	7064751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7064751G>A	ENST00000299481.4	+	4	1840	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	498	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGGCAGTTGGGAAGCTGGGA	0.413																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1492-1494)tgG>tgA		NLR family, pyrin domain containing 14							64.0	68.0	66.0					11																	7064751		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064751G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1494G>A	11.37:g.7064751G>A	ENSP00000299481:p.Trp498*						p.W498*	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1840	+			498			NACHT.		Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.1494G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778614	0.90195	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.42	2.51	0.30379	.	0.883804	0.09571	N	0.784209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.2304	0.15418	0.3403:0.0:0.6597:0.0	.	.	.	.	X	498	.	ENSP00000299481:W498X	W	+	3	0	NLRP14	7021327	0.473000	0.25878	0.031000	0.17742	0.035000	0.12851	1.874000	0.39568	1.192000	0.43071	0.563000	0.77884	TGG		0.413	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		21	44	0	0	0	1	0	21	44				
GINS2	51659	broad.mit.edu	37	16	85712249	85712249	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85712249G>A	ENST00000253462.3	-	4	429	c.329C>T	c.(328-330)gCa>gTa	p.A110V		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	110					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GATTTCGTCTGCCTTCGGGAT	0.517																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(328-330)gCa>gTa		GINS complex subunit 2 (Psf2 homolog)							133.0	115.0	121.0					16																	85712249		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85712249G>A	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.329C>T	16.37:g.85712249G>A	ENSP00000253462:p.Ala110Val						p.A110V	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			4	429	-			110					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.329C>T	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302307	0.95601	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67632	-0.5621	9	0.22109	T	0.4	-14.9443	19.0639	0.93103	0.0:0.0:1.0:0.0	.	110	Q9Y248	PSF2_HUMAN	V	110	.	ENSP00000253462:A110V	A	-	2	0	GINS2	84269750	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.257000	0.95545	2.604000	0.88044	0.557000	0.71058	GCA		0.517	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		39	58	0	0	0	1	0	39	58				
KIAA1024	23251	broad.mit.edu	37	15	79749720	79749720	+	Missense_Mutation	SNP	C	C	T	rs148542288		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79749720C>T	ENST00000305428.3	+	2	1306	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	411						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCAGAAAGGCGCCCAACTTA	0.478																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1231-1233)Cgc>Tgc		KIAA1024		C	CYS/ARG	0,4390		0,0,2195	65.0	75.0	72.0		1231	4.2	1.0	15	dbSNP_134	72	1,8585	1.2+/-3.3	0,1,4292	no	missense	KIAA1024	NM_015206.2	180	0,1,6487	TT,TC,CC		0.0116,0.0,0.0077	benign	411/917	79749720	1,12975	2195	4293	6488	SO:0001583	missense	23251					integral to membrane		g.chr15:79749720C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1231C>T	15.37:g.79749720C>T	ENSP00000307461:p.Arg411Cys						p.R411C	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1306	+			411					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1231C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045473	0.08196	0.0	1.16E-4	ENSG00000169330	ENST00000305428	T	0.32023	1.47	5.14	4.22	0.49857	.	0.358095	0.32386	N	0.006161	T	0.15869	0.0382	N	0.08118	0	0.32339	N	0.560049	B	0.09022	0.002	B	0.04013	0.001	T	0.11665	-1.0578	9	.	.	.	.	13.444	0.61129	0.0:0.9233:0.0:0.0767	.	411	Q9UPX6	K1024_HUMAN	C	411	ENSP00000307461:R411C	.	R	+	1	0	KIAA1024	77536775	1.000000	0.71417	0.987000	0.45799	0.027000	0.11550	3.030000	0.49720	1.157000	0.42530	0.491000	0.48974	CGC		0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		19	32	0	0	0	1	0	19	32				
ELP4	26610	broad.mit.edu	37	11	31653919	31653919	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:31653919C>A	ENST00000350638.5	+	7	929	c.894C>A	c.(892-894)gcC>gcA	p.A298A	ELP4_ENST00000395934.2_Silent_p.A298A|ELP4_ENST00000379163.5_Silent_p.A299A	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	298					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CTCTTTCAGCCTGCATCATCA	0.413																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(892-894)gcC>gcA		elongator acetyltransferase complex subunit 4							136.0	133.0	134.0					11																	31653919		1932	4154	6086	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31653919C>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.894C>A	11.37:g.31653919C>A						ELP4_ENST00000379163.5_Silent_p.A299A|ELP4_ENST00000350638.5_Silent_p.A298A	p.A298A			Q96EB1	ELP4_HUMAN			7	901	+	Lung SC(675;0.225)		298					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.894C>A	CCDS7875.2																																																																																				0.413	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		21	30	1	0	1.28384e-07	1	1.34682e-07	21	30				
SORCS3	22986	broad.mit.edu	37	10	106976777	106976777	+	Silent	SNP	C	C	T	rs143982937		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:106976777C>T	ENST00000369701.3	+	19	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_ENST00000369699.4_Silent_p.D163D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	877	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20769	0.001		0.0	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2629-2631)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		2,4404	4.2+/-10.8	0,2,2201	178.0	135.0	149.0		2631	-11.6	0.2	10	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	SORCS3	NM_014978.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		877/1223	106976777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976777C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2631C>T	10.37:g.106976777C>T						SORCS3_ENST00000369699.4_Silent_p.D163D	p.D877D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2858	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	877			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2631C>T	CCDS7558.1																																																																																				0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		30	45	0	0	0	1	0	30	45				
VPS13D	55187	broad.mit.edu	37	1	12383814	12383814	+	Missense_Mutation	SNP	G	G	A	rs200982609		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12383814G>A	ENST00000358136.3	+	35	8097	c.7967G>A	c.(7966-7968)cGc>cAc	p.R2656H	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2656H	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGATTGTCGCAAAGCTCTT	0.388																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7966-7968)cGc>cAc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							136.0	125.0	129.0					1																	12383814		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12383814G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7967G>A	1.37:g.12383814G>A	ENSP00000350854:p.Arg2656His					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2656H	p.R2656H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	35	8097	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2656			UBA.			Missense_Mutation	SNP	ENST00000358136.3	37	c.7967G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023874|5.023874	0.93462|0.93462	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.26067	.|1.76;1.76	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.073997	.|0.52532	.|D	.|0.000062	T|T	0.49847|0.49847	0.1581|0.1581	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.73380	.|0.98;0.825;0.891	T|T	0.27839|0.27839	-1.0062|-1.0062	5|10	.|0.34782	.|T	.|0.22	.|.	19.6336|19.6336	0.95721|0.95721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|563;2656;2656	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	T|H	1479|2656	.|ENSP00000348666:R2656H;ENSP00000350854:R2656H	.|ENSP00000348666:R2656H	A|R	+|+	1|2	0|0	VPS13D|VPS13D	12306401|12306401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.233000|6.233000	0.72320|0.72320	2.646000|2.646000	0.89796|0.89796	0.637000|0.637000	0.83480|0.83480	GCA|CGC		0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		33	62	0	0	0	1	0	33	62				
VANGL2	57216	broad.mit.edu	37	1	160385872	160385872	+	Missense_Mutation	SNP	G	G	A	rs574127533	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160385872G>A	ENST00000368061.2	+	3	566	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	31					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGACACCGCTCTAAGAGT	0.637													g|||	2	0.000399361	0.0	0.0	5008	,	,		15997	0.002		0.0	False		,,,				2504	0.0					ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(91-93)cGc>cAc		VANGL planar cell polarity protein 2							38.0	44.0	42.0					1																	160385872		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385872G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.92G>A	1.37:g.160385872G>A	ENSP00000357040:p.Arg31His						p.R31H	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	566	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		31					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.92G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904582	0.72868	.	.	ENSG00000162738	ENST00000368061	T	0.80909	-1.43	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.78033	0.4220	L	0.28400	0.85	0.48632	D	0.999681	D	0.76494	0.999	D	0.63957	0.92	T	0.78555	-0.2159	10	0.40728	T	0.16	-22.6432	15.0658	0.71992	0.0:0.0:1.0:0.0	.	31	Q9ULK5	VANG2_HUMAN	H	31	ENSP00000357040:R31H	ENSP00000357040:R31H	R	+	2	0	VANGL2	158652496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.021000	0.64072	2.413000	0.81919	0.461000	0.40582	CGC		0.637	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		10	22	0	0	0	1	0	10	22				
AMZ1	155185	broad.mit.edu	37	7	2752321	2752321	+	Missense_Mutation	SNP	G	G	A	rs201114825		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2752321G>A	ENST00000312371.4	+	7	1674	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	436							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCGTGGACGCCCTCGACCG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16447	0.001		0.0	False		,,,				2504	0.0					ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1306-1308)Gcc>Acc		archaelysin family metallopeptidase 1							48.0	46.0	46.0					7																	2752321		2202	4296	6498	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752321G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1306G>A	7.37:g.2752321G>A	ENSP00000308149:p.Ala436Thr					AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.A436T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1674	+		Ovarian(82;0.0779)	436					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1306G>A	CCDS34589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.19	3.053721	0.55218	.	.	ENSG00000174945	ENST00000312371	T	0.35789	1.29	4.67	4.67	0.58626	.	0.106321	0.41500	D	0.000862	T	0.36552	0.0971	L	0.54323	1.7	0.80722	D	1	D	0.56746	0.977	B	0.41917	0.37	T	0.43523	-0.9386	10	0.87932	D	0	-26.2647	15.3648	0.74513	0.0:0.0:1.0:0.0	.	436	Q400G9	AMZ1_HUMAN	T	436	ENSP00000308149:A436T	ENSP00000308149:A436T	A	+	1	0	AMZ1	2718847	0.235000	0.23794	0.386000	0.26170	0.080000	0.17528	3.282000	0.51693	2.133000	0.65898	0.462000	0.41574	GCC		0.687	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		6	12	0	0	0	1	0	6	12				
POLR2F	5435	broad.mit.edu	37	22	38352843	38352843	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38352843C>T	ENST00000442738.2	+	2	209	c.84C>T	c.(82-84)gcC>gcT	p.A28A	POLR2F_ENST00000470701.1_Silent_p.A23A|POLR2F_ENST00000407936.1_Silent_p.A28A|POLR2F_ENST00000405557.1_Silent_p.A28A|POLR2F_ENST00000606538.1_Silent_p.A28A|POLR2F_ENST00000488684.1_Silent_p.A28A|POLR2F_ENST00000460648.1_Silent_p.A28A	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	28					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					TGGAGAATGCCGAAGAGGTCA	0.483																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(82-84)gcC>gcT		polymerase (RNA) II (DNA directed) polypeptide F							153.0	131.0	138.0					22																	38352843		2203	4300	6503	SO:0001819	synonymous_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38352843C>T		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.84C>T	22.37:g.38352843C>T						POLR2F_ENST00000488684.1_Silent_p.A28A|POLR2F_ENST00000606538.1_Silent_p.A28A|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Silent_p.A23A|POLR2F_ENST00000460648.1_Silent_p.A28A|POLR2F_ENST00000405557.1_Silent_p.A28A|POLR2F_ENST00000407936.1_Silent_p.A28A	p.A28A	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			2	209	+	Melanoma(58;0.045)		28					P41584|Q6IAY3	Silent	SNP	ENST00000442738.2	37	c.84C>T	CCDS13963.1																																																																																				0.483	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		19	17	0	0	0	1	0	19	17				
GPR112	139378	broad.mit.edu	37	X	135428888	135428888	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:135428888C>A	ENST00000394143.1	+	6	3314	c.3023C>A	c.(3022-3024)cCt>cAt	p.P1008H	GPR112_ENST00000370652.1_Missense_Mutation_p.P1008H|GPR112_ENST00000412101.1_Missense_Mutation_p.P803H|GPR112_ENST00000394141.1_Missense_Mutation_p.P803H|GPR112_ENST00000287534.4_Missense_Mutation_p.P945H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1008					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAACCCCTGTGCCTGTT	0.512																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3022-3024)cCt>cAt		G protein-coupled receptor 112							187.0	160.0	169.0					X																	135428888		2203	4298	6501	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428888C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3023C>A	X.37:g.135428888C>A	ENSP00000377699:p.Pro1008His					GPR112_ENST00000370652.1_Missense_Mutation_p.P1008H|GPR112_ENST00000287534.4_Missense_Mutation_p.P945H|GPR112_ENST00000412101.1_Missense_Mutation_p.P803H|GPR112_ENST00000394141.1_Missense_Mutation_p.P803H	p.P1008H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3314	+	Acute lymphoblastic leukemia(192;0.000127)		1008					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3023C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	4.033	0.003737	0.07866	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.53206	0.67;0.67;0.63;0.71;0.63	2.37	-1.6	0.08426	.	.	.	.	.	T	0.25568	0.0622	N	0.17082	0.46	0.09310	N	1	B;B;B	0.14012	0.009;0.006;0.003	B;B;B	0.14578	0.011;0.01;0.004	T	0.15122	-1.0448	9	0.49607	T	0.09	.	2.6901	0.05118	0.2172:0.3385:0.0:0.4444	.	945;803;1008	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	1008;1008;803;945;803	ENSP00000377699:P1008H;ENSP00000359686:P1008H;ENSP00000416526:P803H;ENSP00000287534:P945H;ENSP00000377697:P803H	ENSP00000287534:P945H	P	+	2	0	GPR112	135256554	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.193000	0.09573	-0.647000	0.05444	-0.921000	0.02739	CCT		0.512	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	70	1	0	0.00024832	1	0.000253518	4	70				
OR4D1	26689	broad.mit.edu	37	17	56232829	56232829	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56232829C>T	ENST00000268912.5	+	1	336	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	105					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTTCTTCCACCTTTTGGGAG	0.527																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(313-315)caC>caT		olfactory receptor, family 4, subfamily D, member 1							105.0	108.0	107.0					17																	56232829		2180	4284	6464	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232829C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.315C>T	17.37:g.56232829C>T							p.H105H	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	336	+			105					B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.315C>T	CCDS42365.1																																																																																				0.527	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			21	28	0	0	0	1	0	21	28				
MKI67	4288	broad.mit.edu	37	10	129901245	129901245	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129901245T>C	ENST00000368654.3	-	13	9234	c.8859A>G	c.(8857-8859)ggA>ggG	p.G2953G	MKI67_ENST00000368653.3_Silent_p.G2593G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2953					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTAGAGGTTTTCCACTGTCAG	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8857-8859)ggA>ggG		marker of proliferation Ki-67							96.0	102.0	100.0					10																	129901245		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901245T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8859A>G	10.37:g.129901245T>C						MKI67_ENST00000368653.3_Silent_p.G2593G	p.G2953G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9234	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2953					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.8859A>G	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	144	0	0	0	1	0	6	144				
LOC647323	647323	broad.mit.edu	37	3	193711609	193711609	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:193711609C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						ATGTTTCAGGCGTATCTTGCT	0.453																																						ENST00000397645.2																			0																																																			0							g.chr3:193711609C>T																													3.37:g.193711609C>T						RP11-699L21.2_ENST00000426616.1_lincRNA		NR_033944.1						0	75	-									RNA	SNP	ENST00000397645.2	37																																																																																						0.453	RP11-699L21.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000342625.1			3	7	0	0	0	1	0	3	7				
PI4KA	5297	broad.mit.edu	37	22	21174145	21174145	+	Silent	SNP	C	C	T	rs140108411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:21174145C>T	ENST00000572273.1	-	6	629	c.399G>A	c.(397-399)tcG>tcA	p.S133S	PI4KA_ENST00000255882.6_Silent_p.S191S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	133					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAAATGCTCGCGAGATTCCTA	0.433																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(571-573)tcG>tcA		phosphatidylinositol 4-kinase, catalytic, alpha		C		1,4405	2.1+/-5.4	0,1,2202	153.0	140.0	144.0		399	-10.0	0.2	22	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PI4KA	NM_058004.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		133/2045	21174145	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21174145C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.399G>A	22.37:g.21174145C>T						PI4KA_ENST00000572273.1_Silent_p.S133S	p.S191S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	659	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	133					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.573G>A																																																																																					0.433	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		7	99	0	0	0	1	0	7	99				
KRT16P3	644945	broad.mit.edu	37	17	20407308	20407308	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:20407308C>T	ENST00000580113.1	-	0	331									keratin 16 pseudogene 3																		TCCAGGTCGGCGTTGGCCTCC	0.597																																						ENST00000580113.1																			0																																																			0							g.chr17:20407308C>T	BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20407308C>T														0	331	-									RNA	SNP	ENST00000580113.1	37																																																																																						0.597	KRT16P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443764.1	NR_029393		43	83	0	0	0	1	0	43	83				
DHX30	22907	broad.mit.edu	37	3	47888469	47888469	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47888469T>G	ENST00000445061.1	+	11	2314	c.1907T>G	c.(1906-1908)cTg>cGg	p.L636R	DHX30_ENST00000348968.4_Missense_Mutation_p.L608R|DHX30_ENST00000446256.2_Missense_Mutation_p.L597R|DHX30_ENST00000457607.1_Missense_Mutation_p.L664R|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	636						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACCAGTACCTGCACCGGCAC	0.632																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1789-1791)cTg>cGg		DEAH (Asp-Glu-Ala-His) box helicase 30							52.0	52.0	52.0					3																	47888469		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888469T>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1907T>G	3.37:g.47888469T>G	ENSP00000405620:p.Leu636Arg					DHX30_ENST00000445061.1_Missense_Mutation_p.L636R|DHX30_ENST00000348968.4_Missense_Mutation_p.L608R|DHX30_ENST00000457607.1_Missense_Mutation_p.L664R	p.L597R	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	2362	+			636			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1790T>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	T	0.158	-1.084180	0.01888	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03553	3.9;3.89;3.9;3.9	3.32	2.42	0.29668	.	0.635768	0.15236	N	0.273154	T	0.01695	0.0054	N	0.08118	0	0.25938	N	0.982901	B;B	0.32010	0.351;0.01	B;B	0.24541	0.054;0.03	T	0.47586	-0.9106	10	0.12103	T	0.63	.	8.1277	0.31008	0.0:0.8702:0.0:0.1298	.	636;597	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	R	597;636;608;664	ENSP00000392601:L597R;ENSP00000405620:L636R;ENSP00000343442:L608R;ENSP00000394682:L664R	ENSP00000343442:L608R	L	+	2	0	DHX30	47863473	0.858000	0.29795	0.824000	0.32777	0.687000	0.40016	1.377000	0.34317	0.926000	0.37118	-0.464000	0.05259	CTG		0.632	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		13	22	0	0	0	1	0	13	22				
C8G	733	broad.mit.edu	37	9	139841131	139841131	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139841131C>T	ENST00000224181.3	+	6	645	c.585C>T	c.(583-585)caC>caT	p.H195H	FBXW5_ENST00000483559.1_5'Flank|C8G_ENST00000465773.1_3'UTR|FBXW5_ENST00000325285.3_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	195					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACCAGTTCCACGTCCTGGACG	0.672																																						ENST00000224181.3																			0				NS(1)|prostate(1)|skin(1)	3						c.(583-585)caC>caT		complement component 8, gamma polypeptide							45.0	47.0	46.0					9																	139841131		2203	4299	6502	SO:0001819	synonymous_variant	733				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity	g.chr9:139841131C>T	X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.585C>T	9.37:g.139841131C>T						C8G_ENST00000465773.1_3'UTR	p.H195H	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)	6	645	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	195					Q14CT8|Q14CU0|Q5SQ07	Silent	SNP	ENST00000224181.3	37	c.585C>T	CCDS7017.1																																																																																				0.672	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055178.1			6	13	0	0	0	1	0	6	13				
CSPP1	79848	broad.mit.edu	37	8	68074057	68074057	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:68074057G>A	ENST00000262210.5	+	20	2566	c.2535G>A	c.(2533-2535)caG>caA	p.Q845Q	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.Q500Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	880	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACATGAGACAGCCTTCTCCTA	0.363																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2533-2535)caG>caA		centrosome and spindle pole associated protein 1							159.0	153.0	155.0					8																	68074057		1860	4109	5969	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68074057G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2535G>A	8.37:g.68074057G>A						CSPP1_ENST00000412460.1_Silent_p.Q500Q|CSPP1_ENST00000521168.1_3'UTR	p.Q845Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2566	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	880			Glu-rich.		A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.2535G>A	CCDS43744.1																																																																																				0.363	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	84	0	0	0	1	0	8	84				
ZP4	57829	broad.mit.edu	37	1	238048881	238048881	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:238048881C>T	ENST00000366570.4	-	8	1129		c.e8-1		RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4						acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGTTTTTATCTGCAAGAGGC	0.458																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.e8-1		zona pellucida glycoprotein 4							50.0	49.0	49.0					1																	238048881		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048881C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.971-1G>A	1.37:g.238048881C>T						RP11-193H5.1_ENST00000450451.1_RNA		NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1129	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)						B2RAE1	Splice_Site	SNP	ENST00000366570.4	37		CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476194	0.44044	.	.	ENSG00000116996	ENST00000366570	.	.	.	4.86	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2629	0.49093	0.0:0.9079:0.0:0.0921	.	.	.	.	.	-1	.	.	.	-	.	.	ZP4	236115504	1.000000	0.71417	0.386000	0.26170	0.161000	0.22273	4.411000	0.59781	2.247000	0.74100	0.655000	0.94253	.		0.458	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Intron	15	18	0	0	0	1	0	15	18				
SLC12A7	10723	broad.mit.edu	37	5	1053571	1053571	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1053571T>C	ENST00000264930.5	-	23	3096	c.3053A>G	c.(3052-3054)cAc>cGc	p.H1018R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1018					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CACAGCCGTGTGCATCCGCCT	0.662																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(3052-3054)cAc>cGc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						128.0	104.0	112.0					5																	1053571		2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1053571T>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3053A>G	5.37:g.1053571T>C	ENSP00000264930:p.His1018Arg						p.H1018R	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		23	3096	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		1018					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.3053A>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843126	0.71488	.	.	ENSG00000113504	ENST00000264930	T	0.49432	0.78	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.82716	2.605	0.80722	D	1	B	0.28439	0.212	B	0.25614	0.062	T	0.57335	-0.7829	10	0.72032	D	0.01	.	10.9162	0.47137	0.0:0.0:0.0:1.0	.	1018	Q9Y666	S12A7_HUMAN	R	1018	ENSP00000264930:H1018R	ENSP00000264930:H1018R	H	-	2	0	SLC12A7	1106571	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.747000	0.74872	1.535000	0.49220	0.402000	0.26972	CAC		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		13	14	0	0	0	1	0	13	14				
WSCD1	23302	broad.mit.edu	37	17	5993711	5993711	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5993711G>A	ENST00000574946.1	+	4	1003	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	205	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCGGTGAGCGTGGGGCTGGA	0.662																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(613-615)Gtg>Atg		WSC domain containing 1							66.0	63.0	64.0					17																	5993711		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5993711G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.613G>A	17.37:g.5993711G>A	ENSP00000460825:p.Val205Met					WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M	p.V205M			Q658N2	WSCD1_HUMAN			4	1003	+			205			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.613G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900780	0.17686	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.56275	0.47;0.47	6.04	2.7	0.31948	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.433356	0.23694	N	0.045496	T	0.46132	0.1377	M	0.64676	1.99	0.09310	N	1	B	0.19331	0.035	B	0.13407	0.009	T	0.39583	-0.9607	10	0.40728	T	0.16	-27.2974	8.9378	0.35711	0.1481:0.0:0.7217:0.1301	.	205	Q658N2	WSCD1_HUMAN	M	205	ENSP00000323087:V205M;ENSP00000446032:V205M	ENSP00000323087:V205M	V	+	1	0	WSCD1	5934435	0.033000	0.19621	0.008000	0.14137	0.034000	0.12701	1.021000	0.30040	0.897000	0.36392	0.563000	0.77884	GTG		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		8	73	0	0	0	1	0	8	73				
PITX2	5308	broad.mit.edu	37	4	111542460	111542460	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111542460G>A	ENST00000354925.2	-	6	1955	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	PITX2_ENST00000394598.2_Missense_Mutation_p.R84W|PITX2_ENST00000306732.3_Missense_Mutation_p.R91W|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Missense_Mutation_p.R38W|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Missense_Mutation_p.R91W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	84					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGCCTTTGCCGCTTCTTCTTA	0.567																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(250-252)Cgg>Tgg		paired-like homeodomain 2							73.0	73.0	73.0					4																	111542460		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111542460G>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.250C>T	4.37:g.111542460G>A	ENSP00000347004:p.Arg84Trp					PITX2_ENST00000394598.2_Missense_Mutation_p.R84W|PITX2_ENST00000306732.3_Missense_Mutation_p.R91W|PITX2_ENST00000557119.2_Missense_Mutation_p.R91W|PITX2_ENST00000355080.5_Missense_Mutation_p.R38W|PITX2_ENST00000394595.3_Intron	p.R84W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	6	1955	-		Hepatocellular(203;0.217)	84					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.250C>T	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122613	0.77436	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.37	1.51	0.23008	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.968;0.988;0.945;0.996	D	0.96194	0.9140	10	0.87932	D	0	.	10.3143	0.43727	0.0643:0.0:0.3387:0.597	.	84;38;84;91	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	W	91;84;38;84;84;38	ENSP00000304169:R91W;ENSP00000378097:R84W;ENSP00000347192:R38W;ENSP00000347004:R84W;ENSP00000421454:R84W;ENSP00000424142:R38W	ENSP00000304169:R91W	R	-	1	2	PITX2	111761909	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.764000	0.26532	0.028000	0.15324	0.655000	0.94253	CGG		0.567	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			28	38	0	0	0	1	0	28	38				
ITCH	83737	broad.mit.edu	37	20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32981637A>G	ENST00000262650.6	+	3	156	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.Q7R			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(19-21)cAa>cGa		itchy E3 ubiquitin protein ligase							185.0	161.0	169.0					20																	32981637		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:32981637A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.20A>G	20.37:g.32981637A>G	ENSP00000262650:p.Gln7Arg					ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.Q7R	p.Q7R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			3	233	+			7			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.20A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	3.708	-0.060113	0.07317	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.27402	1.67;2.08	5.07	3.94	0.45596	.	4.215730	0.00639	N	0.000513	T	0.07503	0.0189	N	0.00116	-2.08	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55354	-0.8154	10	0.02654	T	1	.	8.0318	0.30470	0.8964:0.0:0.1035:0.0	.	7;7	Q96J02;Q5QP37	ITCH_HUMAN;.	R	7	ENSP00000363998:Q7R;ENSP00000262650:Q7R	ENSP00000262650:Q7R	Q	+	2	0	ITCH	32445298	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.129000	0.65627	0.533000	0.62120	CAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			50	99	0	0	0	1	0	50	99				
OSR2	116039	broad.mit.edu	37	8	99961724	99961724	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:99961724A>G	ENST00000297565.4	+	2	1040	c.544A>G	c.(544-546)Acc>Gcc	p.T182A	OSR2_ENST00000522510.1_Missense_Mutation_p.T182A|OSR2_ENST00000457907.2_Missense_Mutation_p.T303A|OSR2_ENST00000523368.1_Missense_Mutation_p.T182A|OSR2_ENST00000435298.2_Missense_Mutation_p.T182A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	182					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CAGACACTTTACCAAATCCTA	0.512																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(544-546)Acc>Gcc		odd-skipped related transciption factor 2							138.0	149.0	146.0					8																	99961724		2051	4211	6262	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961724A>G	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.544A>G	8.37:g.99961724A>G	ENSP00000297565:p.Thr182Ala					OSR2_ENST00000522510.1_Missense_Mutation_p.T182A|OSR2_ENST00000523368.1_Missense_Mutation_p.T182A|OSR2_ENST00000457907.2_Missense_Mutation_p.T303A|OSR2_ENST00000435298.2_Missense_Mutation_p.T182A	p.T182A	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	1040	+	Breast(36;4.14e-07)		182					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.544A>G	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734451	0.89482	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.78049	2.395	0.80722	D	1	D;D;P;P	0.65815	0.973;0.995;0.844;0.691	P;D;P;P	0.63283	0.759;0.913;0.867;0.643	T	0.01753	-1.1281	9	.	.	.	-20.2199	14.5912	0.68365	1.0:0.0:0.0:0.0	.	303;182;182;182	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	A	182;182;182;182;303;235;182	ENSP00000430041:T182A;ENSP00000297565:T182A;ENSP00000402862:T182A;ENSP00000430780:T182A;ENSP00000414657:T303A;ENSP00000430074:T235A;ENSP00000429910:T182A	.	T	+	1	0	OSR2	100030900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	ACC		0.512	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		48	68	0	0	0	1	0	48	68				
NEB	4703	broad.mit.edu	37	2	152364588	152364588	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152364588C>T	ENST00000172853.10	-	134	18426	c.18279G>A	c.(18277-18279)tcG>tcA	p.S6093S	NEB_ENST00000603639.1_Silent_p.S7794S|NEB_ENST00000427231.2_Silent_p.S7794S|NEB_ENST00000397345.3_Silent_p.S7794S|NEB_ENST00000604864.1_Silent_p.S7794S|NEB_ENST00000509223.2_5'Flank|NEB_ENST00000409198.1_Silent_p.S6093S|NEB_ENST00000498015.2_5'Flank			P20929	NEBU_HUMAN	nebulin	6093					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCATAATACGACATGGACT	0.428																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23380-23382)tcG>tcA		nebulin							137.0	117.0	123.0					2																	152364588		1843	4093	5936	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152364588C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18279G>A	2.37:g.152364588C>T						NEB_ENST00000172853.10_Silent_p.S6093S|NEB_ENST00000409198.1_Silent_p.S6093S|NEB_ENST00000604864.1_Silent_p.S7794S|NEB_ENST00000603639.1_Silent_p.S7794S|NEB_ENST00000397345.3_Silent_p.S7794S	p.S7794S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	162	23584	-			6093					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.23382G>A		.	.	.	.	.	.	.	.	.	.	C	10.15	1.270613	0.23221	.	.	ENSG00000183091	ENST00000434685	.	.	.	5.35	-10.0	0.00425	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52697	-0.8541	4	.	.	.	.	6.6553	0.22984	0.0783:0.2267:0.4958:0.1993	.	.	.	.	H	380	.	.	R	-	2	0	NEB	152072834	0.016000	0.18221	0.888000	0.34837	0.973000	0.67179	-1.105000	0.03323	-1.291000	0.02368	-1.085000	0.02201	CGT		0.428	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		13	13	0	0	0	1	0	13	13				
GMIP	51291	broad.mit.edu	37	19	19747821	19747821	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19747821C>A	ENST00000203556.4	-	12	1279	c.1142G>T	c.(1141-1143)aGa>aTa	p.R381I	GMIP_ENST00000445806.2_Missense_Mutation_p.R381I|GMIP_ENST00000587238.1_Missense_Mutation_p.R381I|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	381	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCTTCTTTCTGATGTCCAG	0.567																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1141-1143)aGa>aTa		GEM interacting protein							18.0	16.0	17.0					19																	19747821		2203	4299	6502	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19747821C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1142G>T	19.37:g.19747821C>A	ENSP00000203556:p.Arg381Ile					GMIP_ENST00000587238.1_Missense_Mutation_p.R381I|GMIP_ENST00000445806.2_Missense_Mutation_p.R381I	p.R381I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			12	1279	-			381			Pro-rich.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1142G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593698	0.46214	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.22539	1.95;1.97	4.43	1.15	0.20763	.	0.143310	0.31673	N	0.007250	T	0.22898	0.0553	M	0.65498	2.005	0.26749	N	0.970235	P;P;P	0.43169	0.8;0.8;0.694	P;P;B	0.45037	0.467;0.467;0.444	T	0.07462	-1.0771	10	0.36615	T	0.2	-8.7173	5.9042	0.18984	0.0:0.6578:0.0:0.3422	.	381;381;381	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	I	381	ENSP00000203556:R381I;ENSP00000397075:R381I	ENSP00000203556:R381I	R	-	2	0	GMIP	19608821	0.771000	0.28555	0.111000	0.21465	0.649000	0.38597	0.563000	0.23547	0.148000	0.19059	0.511000	0.50034	AGA		0.567	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	3	1	0	0.00909568	1	0.00918626	4	3				
SVIP	258010	broad.mit.edu	37	11	22849398	22849398	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:22849398G>A	ENST00000354193.4	-	2	193	c.77C>T	c.(76-78)gCa>gTa	p.A26V	RP11-17A1.3_ENST00000499625.1_RNA|SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000525963.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	26					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TGCAGCCTCTGCAAGCTTTGC	0.284																																						ENST00000354193.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						c.(76-78)gCa>gTa		small VCP/p97-interacting protein							138.0	126.0	130.0					11																	22849398		1808	4074	5882	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22849398G>A	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.77C>T	11.37:g.22849398G>A	ENSP00000346130:p.Ala26Val					SVIP_ENST00000533774.1_5'UTR	p.A26V	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN			2	193	-			26						Missense_Mutation	SNP	ENST00000354193.4	37	c.77C>T	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510899	0.64522	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.33	5.33	0.75918	.	0.000000	0.48767	D	0.000170	T	0.71609	0.3360	.	.	.	0.34873	D	0.7438	D	0.76494	0.999	D	0.83275	0.996	T	0.74466	-0.3656	8	0.26408	T	0.33	-11.3831	14.8587	0.70362	0.0:0.0:1.0:0.0	.	26	Q8NHG7	SVIP_HUMAN	V	26	.	ENSP00000346130:A26V	A	-	2	0	SVIP	22805974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.649000	0.89929	0.655000	0.94253	GCA		0.284	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		9	20	0	0	0	1	0	9	20				
PCDHA4	56144	broad.mit.edu	37	5	140187880	140187880	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140187880G>A	ENST00000530339.1	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGTCATCGCCCTGATCAG	0.493																																						ENST00000530339.1																			2	Substitution - Missense(2)	p.A370S(2)	lung(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1108-1110)Gcc>Acc									97.0	94.0	95.0					5																	140187880		2203	4300	6503	SO:0001583	missense	0							g.chr5:140187880G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1108G>A	5.37:g.140187880G>A	ENSP00000435300:p.Ala370Thr					PCDHA4_ENST00000512229.2_Missense_Mutation_p.A370T|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A370T|PCDHA2_ENST00000526136.1_Intron	p.A370T	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1108	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1108G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	14.66	2.600395	0.46423	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.40302	U	0.001121	T	0.59810	0.2221	M	0.64567	1.98	0.29498	N	0.855113	P;D;D	0.57257	0.853;0.963;0.979	B;P;P	0.53518	0.322;0.728;0.728	T	0.61787	-0.6991	10	0.59425	D	0.04	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	370;370;370	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	370	ENSP00000423470:A370T;ENSP00000349344:A370T;ENSP00000435300:A370T	ENSP00000349344:A370T	A	+	1	0	PCDHA4	140168064	1.000000	0.71417	0.553000	0.28255	0.264000	0.26372	4.379000	0.59575	2.341000	0.79615	0.591000	0.81541	GCC		0.493	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		20	42	0	0	0	1	0	20	42				
MERTK	10461	broad.mit.edu	37	2	112740448	112740448	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112740448G>A	ENST00000295408.4	+	8	1431	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	MERTK_ENST00000421804.2_Missense_Mutation_p.V392M|MERTK_ENST00000409780.1_Missense_Mutation_p.V216M			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	392	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAATGTCACTGTGTTTCTGAA	0.438																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1174-1176)Gtg>Atg		c-mer proto-oncogene tyrosine kinase							191.0	186.0	188.0					2																	112740448		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740448G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1174G>A	2.37:g.112740448G>A	ENSP00000295408:p.Val392Met					MERTK_ENST00000421804.2_Missense_Mutation_p.V392M|MERTK_ENST00000409780.1_Missense_Mutation_p.V216M	p.V392M			Q12866	MERTK_HUMAN			8	1431	+			392			Fibronectin type-III 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1174G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	5.933	0.356220	0.11239	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.58210	0.35;0.35;0.35	4.66	2.79	0.32731	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.276160	0.19061	N	0.123762	T	0.42877	0.1222	M	0.64997	1.995	0.19300	N	0.999975	B	0.28055	0.199	B	0.20577	0.03	T	0.31194	-0.9952	10	0.35671	T	0.21	-8.8989	5.29	0.15721	0.1951:0.1662:0.6387:0.0	.	392	Q12866	MERTK_HUMAN	M	392;392;216	ENSP00000295408:V392M;ENSP00000389152:V392M;ENSP00000387277:V216M	ENSP00000295408:V392M	V	+	1	0	MERTK	112456919	0.218000	0.23608	0.398000	0.26321	0.469000	0.32828	1.000000	0.29770	0.451000	0.26802	0.508000	0.49915	GTG		0.438	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			14	88	0	0	0	1	0	14	88				
RPH3AL	9501	broad.mit.edu	37	17	97005	97005	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:97005G>A	ENST00000331302.7	-	7	817	c.510C>T	c.(508-510)ggC>ggT	p.G170G	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000536489.2_Silent_p.G141G|RPH3AL_ENST00000323434.8_Silent_p.G141G	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	170					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CATCAGCTCGGCCAGGGGTCT	0.627																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(421-423)ggC>ggT		rabphilin 3A-like (without C2 domains)							44.0	48.0	47.0					17																	97005		2203	4300	6503	SO:0001819	synonymous_variant	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:97005G>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.510C>T	17.37:g.97005G>A						RPH3AL_ENST00000536489.2_Silent_p.G141G|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Silent_p.G170G	p.G141G	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	6	1020	-			170			RabBD.		D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	c.423C>T	CCDS10994.1																																																																																				0.627	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		3	17	0	0	0	1	0	3	17				
OR5L1	219437	broad.mit.edu	37	11	55579030	55579030	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55579030C>A	ENST00000333973.2	+	1	177	c.88C>A	c.(88-90)Ctg>Atg	p.L30M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTCTTCCTGCTGTTCCTTCT	0.493																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(88-90)Ctg>Atg		olfactory receptor, family 5, subfamily L, member 1							250.0	227.0	235.0					11																	55579030		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579030C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.88C>A	11.37:g.55579030C>A	ENSP00000335529:p.Leu30Met						p.L30M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	177	+		all_epithelial(135;0.208)	30					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.88C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	7.333	0.619341	0.14129	.	.	ENSG00000186117	ENST00000333973	T	0.17054	2.3	4.32	-8.64	0.00874	.	2.457760	0.01747	N	0.029680	T	0.14399	0.0348	L	0.55834	1.745	0.09310	N	1	B	0.29481	0.245	B	0.23852	0.049	T	0.04752	-1.0929	10	0.25751	T	0.34	0.9846	9.3554	0.38164	0.3156:0.2472:0.4372:0.0	.	30	Q8NGL2	OR5L1_HUMAN	M	30	ENSP00000335529:L30M	ENSP00000335529:L30M	L	+	1	2	OR5L1	55335606	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-4.804000	0.00183	-2.021000	0.00939	-0.597000	0.04108	CTG		0.493	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		6	139	1	0	0.00307968	1	0.00311927	6	139				
HOMER1	9456	broad.mit.edu	37	5	78746842	78746842	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78746842C>T	ENST00000334082.6	-	3	1707	c.265G>A	c.(265-267)Gga>Aga	p.G89R	HOMER1_ENST00000508576.1_Missense_Mutation_p.G89R|HOMER1_ENST00000282260.6_Missense_Mutation_p.G89R|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	89	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GAGGAGAATCCCAATCCATAA	0.348																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(265-267)Gga>Aga		homer homolog 1 (Drosophila)							105.0	96.0	98.0					5																	78746842		1822	4082	5904	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78746842C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.265G>A	5.37:g.78746842C>T	ENSP00000334382:p.Gly89Arg					HOMER1_ENST00000282260.6_Missense_Mutation_p.G89R|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.G89R	p.G89R	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	3	1707	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	89			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.265G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086283	0.76642	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98732	-5.1;-5.1;-5.1	5.78	5.78	0.91487	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	-21.2781	20.3681	0.98887	0.0:1.0:0.0:0.0	.	89;89;89	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	R	89	ENSP00000334382:G89R;ENSP00000426651:G89R;ENSP00000282260:G89R	ENSP00000282260:G89R	G	-	1	0	HOMER1	78782598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.890000	0.99128	0.655000	0.94253	GGA		0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		19	27	0	0	0	1	0	19	27				
ELMO1	9844	broad.mit.edu	37	7	37136300	37136300	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37136300C>T	ENST00000310758.4	-	15	1871	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	ELMO1_ENST00000448602.1_Silent_p.K408K|ELMO1_ENST00000442504.1_Silent_p.K408K|ELMO1_ENST00000341056.3_Silent_p.K110K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	408	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACATTCATGCTTGTCTTCTC	0.413																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1222-1224)aaG>aaA		engulfment and cell motility 1							184.0	148.0	160.0					7																	37136300		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37136300C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1224G>A	7.37:g.37136300C>T						ELMO1_ENST00000448602.1_Silent_p.K408K|ELMO1_ENST00000341056.3_Silent_p.K110K|ELMO1_ENST00000442504.1_Silent_p.K408K	p.K408K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			15	1871	-			408			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1224G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.173045	0.21704	.	.	ENSG00000155849	ENST00000433246	.	.	.	4.96	3.11	0.35812	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52711	-0.8539	4	.	.	.	.	9.1842	0.37160	0.0:0.7721:0.0:0.2279	.	.	.	.	N	188	.	.	S	-	2	0	ELMO1	37102825	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.887000	0.28254	0.586000	0.29626	0.563000	0.77884	AGC		0.413	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		33	58	0	0	0	1	0	33	58				
PLCE1	51196	broad.mit.edu	37	10	96058386	96058386	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96058386C>T	ENST00000371380.3	+	23	5653	c.5418C>T	c.(5416-5418)ctC>ctT	p.L1806L	PLCE1_ENST00000371385.3_Silent_p.L1498L|PLCE1_ENST00000260766.3_Silent_p.L1806L|PLCE1_ENST00000371375.1_Silent_p.L1498L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1806	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTCTGGCTCCATGGGATAC	0.537																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5416-5418)ctC>ctT		phospholipase C, epsilon 1							127.0	125.0	126.0					10																	96058386		2046	4204	6250	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96058386C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5418C>T	10.37:g.96058386C>T						PLCE1_ENST00000371375.1_Silent_p.L1498L|PLCE1_ENST00000371385.3_Silent_p.L1498L|PLCE1_ENST00000371380.2_Silent_p.L1806L	p.L1806L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			24	6052	+		Colorectal(252;0.0458)	1806			PI-PLC Y-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.5418C>T	CCDS41552.1																																																																																				0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		32	37	0	0	0	1	0	32	37				
STAT5B	6777	broad.mit.edu	37	17	40362188	40362188	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40362188C>T	ENST00000293328.3	-	15	2075		c.e15+1			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGGGCACTCACGAGAATCAAA	0.418																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e15+1		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						104.0	93.0	96.0					17																	40362188		2203	4300	6503	SO:0001630	splice_region_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362188C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1906+1G>A	17.37:g.40362188C>T								NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2075	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)						Q8WWS8	Splice_Site	SNP	ENST00000293328.3	37		CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163864	0.57476	.	.	ENSG00000173757	ENST00000293328	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1568	0.93514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT5B	37615714	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.058000	0.57463	2.832000	0.97577	0.655000	0.94253	.		0.418	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	Intron	14	21	0	0	0	1	0	14	21				
INF2	64423	broad.mit.edu	37	14	105179320	105179320	+	Silent	SNP	C	C	T	rs201044782		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105179320C>T	ENST00000392634.4	+	18	2878	c.2766C>T	c.(2764-2766)cgC>cgT	p.R922R	INF2_ENST00000330634.7_Silent_p.R922R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	922	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTTTCCTCCGCGCCCTGAAGG	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		15619	0.001		0.0	False		,,,				2504	0.0					ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(2764-2766)cgC>cgT		inverted formin, FH2 and WH2 domain containing							59.0	67.0	64.0					14																	105179320		2044	4165	6209	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105179320C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2766C>T	14.37:g.105179320C>T						INF2_ENST00000330634.7_Silent_p.R922R	p.R922R	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	18	2878	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	922			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.2766C>T	CCDS9989.2																																																																																				0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		38	74	0	0	0	1	0	38	74				
KCNA2	3737	broad.mit.edu	37	1	111147039	111147039	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111147039C>T	ENST00000485317.1	-	3	1039	c.366G>A	c.(364-366)gcG>gcA	p.A122A	KCNA2_ENST00000316361.4_Silent_p.A122A|KCNA2_ENST00000440270.1_Silent_p.A122A|KCNA2_ENST00000369770.3_Silent_p.A122A|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	122					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ACATCTCCATCGCTTCTTCTC	0.468																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(364-366)gcG>gcA		potassium voltage-gated channel, shaker-related subfamily, member 2							46.0	47.0	47.0					1																	111147039		2203	4300	6503	SO:0001819	synonymous_variant	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147039C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.366G>A	1.37:g.111147039C>T						KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.A122A|KCNA2_ENST00000440270.1_Silent_p.A122A|KCNA2_ENST00000369770.3_Silent_p.A122A	p.A122A			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1039	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	122					Q86XG6	Silent	SNP	ENST00000485317.1	37	c.366G>A	CCDS827.1																																																																																				0.468	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		16	29	0	0	0	1	0	16	29				
AFAP1	60312	broad.mit.edu	37	4	7780603	7780603	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7780603G>A	ENST00000360265.4	-	12	1765	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	AFAP1_ENST00000358461.2_Splice_Site_p.L511F|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Splice_Site_p.L595F|AFAP1_ENST00000382543.3_Splice_Site_p.L595F			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	511						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTACCCTTGAGCTGTTGAAAT	0.408																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.e14-1		actin filament associated protein 1							59.0	68.0	65.0					4																	7780603		2203	4300	6503	SO:0001630	splice_region_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7780603G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-1C>T	4.37:g.7780603G>A						AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Splice_Site_p.L595_splice|AFAP1_ENST00000358461.2_Splice_Site_p.L511_splice|AFAP1_ENST00000360265.4_Splice_Site_p.L511_splice	p.L595_splice	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			14	2055	-			553			Interaction with F-actin (By similarity).		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	ENST00000360265.4	37	c.1782_splice	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.477927	0.12521	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.15372	2.43;2.46;2.43;2.46	4.66	-5.81	0.02340	.	1.193770	0.05949	N	0.638355	T	0.12646	0.0307	L	0.43152	1.355	0.26909	N	0.966937	B;B	0.09022	0.002;0.0	B;B	0.06405	0.001;0.002	T	0.31696	-0.9934	10	0.29301	T	0.29	-3.3363	7.4689	0.27336	0.3312:0.2438:0.425:0.0	.	595;511	E9PDT7;Q8N556	.;AFAP1_HUMAN	F	511;595;511;595	ENSP00000353402:L511F;ENSP00000410689:L595F;ENSP00000351245:L511F;ENSP00000371983:L595F	ENSP00000351245:L511F	L	-	1	0	AFAP1	7831503	0.893000	0.30496	0.254000	0.24359	0.894000	0.52154	-0.159000	0.10056	-1.402000	0.02056	-0.302000	0.09304	CTC		0.408	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	Missense_Mutation	10	44	0	0	0	1	0	10	44				
SOWAHA	134548	broad.mit.edu	37	5	132150756	132150756	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132150756C>T	ENST00000378693.2	+	1	1724	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	481																	CATTTCTGGGCGTCCTGGCTG	0.627																																						ENST00000378693.2																			0											c.(1441-1443)ggC>ggT		sosondowah ankyrin repeat domain family member A							42.0	40.0	40.0					5																	132150756		2202	4300	6502	SO:0001819	synonymous_variant	134548							g.chr5:132150756C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1443C>T	5.37:g.132150756C>T							p.G481G	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1724	+			481					Q8NAE7	Silent	SNP	ENST00000378693.2	37	c.1443C>T	CCDS43361.1																																																																																				0.627	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		7	5	0	0	0	1	0	7	5				
MCMDC2	157777	broad.mit.edu	37	8	67803125	67803125	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67803125G>A	ENST00000422365.2	+	10	1270	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.V304I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.V367I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V367I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	367					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CATAAACCTTGTCCCCCGTGG	0.338																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1099-1101)Gtc>Atc		minichromosome maintenance domain containing 2							103.0	105.0	104.0					8																	67803125		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803125G>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1099G>A	8.37:g.67803125G>A	ENSP00000413632:p.Val367Ile					MCMDC2_ENST00000396592.3_Missense_Mutation_p.V367I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.V304I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V367I	p.V367I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			10	1270	+			367					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1099G>A	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	G	5.011	0.187657	0.09547	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.84	3.05	0.35203	.	0.197161	0.42964	D	0.000635	T	0.24967	0.0606	L	0.47716	1.5	0.29459	N	0.857883	B;B;B	0.12630	0.001;0.006;0.006	B;B;B	0.12156	0.006;0.005;0.007	T	0.15065	-1.0450	10	0.48119	T	0.1	-6.6102	7.9898	0.30233	0.1545:0.1408:0.7047:0.0	.	304;367;367	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	I	239;367;367;367;304	ENSP00000379837:V367I;ENSP00000413632:V367I;ENSP00000317234:V367I;ENSP00000445629:V304I	ENSP00000317234:V367I	V	+	1	0	C8orf45	67965679	1.000000	0.71417	0.972000	0.41901	0.102000	0.19082	2.433000	0.44793	0.573000	0.29400	-0.218000	0.12543	GTC		0.338	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		18	80	0	0	0	1	0	18	80				
MLPH	79083	broad.mit.edu	37	2	238419298	238419298	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238419298C>T	ENST00000264605.3	+	3	486	c.192C>T	c.(190-192)tgC>tgT	p.C64C	MLPH_ENST00000338530.4_Silent_p.C64C|MLPH_ENST00000410032.1_Silent_p.C64C|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Silent_p.C64C|MLPH_ENST00000445024.2_Silent_p.C64C	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	64	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGACCCACTGCGCCCGCTGCC	0.562																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(190-192)tgC>tgT		melanophilin							46.0	48.0	47.0					2																	238419298		2203	4300	6503	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238419298C>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.192C>T	2.37:g.238419298C>T						MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.C64C|MLPH_ENST00000338530.4_Silent_p.C64C|MLPH_ENST00000410032.1_Silent_p.C64C|MLPH_ENST00000409373.1_Silent_p.C64C	p.C64C	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	3	486	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	64			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.192C>T	CCDS2518.1																																																																																				0.562	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		5	18	0	0	0	1	0	5	18				
KRBA2	124751	broad.mit.edu	37	17	8273384	8273384	+	Nonsense_Mutation	SNP	G	G	A	rs202118881	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8273384G>A	ENST00000331336.2	-	2	552	c.547C>T	c.(547-549)Cga>Tga	p.R183*	KRBA2_ENST00000396267.1_Nonsense_Mutation_p.R101*|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	183					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R183*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACCGTATTCGATCACGTTCT	0.438													G|||	8	0.00159744	0.0	0.0	5008	,	,		20956	0.0079		0.0	False		,,,				2504	0.0					ENST00000396267.1																			1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(301-303)Cga>Tga		KRAB-A domain containing 2							206.0	186.0	192.0					17																	8273384		2203	4300	6503	SO:0001587	stop_gained	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273384G>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.547C>T	17.37:g.8273384G>A	ENSP00000328017:p.Arg183*					RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Nonsense_Mutation_p.R183*	p.R101*			Q6ZNG9	KRBA2_HUMAN			2	1132	-			183			KRAB.		Q8IYY0	Nonsense_Mutation	SNP	ENST00000331336.2	37	c.301C>T	CCDS11141.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	12.75	2.031138	0.35797	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	.	.	.	2.42	1.44	0.22558	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.1214	0.14862	0.167:0.0:0.833:0.0	.	.	.	.	X	101;183	.	ENSP00000328017:R183X	R	-	1	2	KRBA2	8214109	0.000000	0.05858	0.012000	0.15200	0.581000	0.36288	-0.317000	0.08060	0.602000	0.29896	0.555000	0.69702	CGA		0.438	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		20	129	0	0	0	1	0	20	129				
INTU	27152	broad.mit.edu	37	4	128627966	128627966	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128627966C>T	ENST00000335251.6	+	12	2216	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	705					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTAAAGACACGCAAGCCTAG	0.473																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2113-2115)Cgc>Tgc		inturned planar cell polarity protein							182.0	182.0	182.0					4																	128627966		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128627966C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2113C>T	4.37:g.128627966C>T	ENSP00000334003:p.Arg705Cys						p.R705C	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			12	2216	+			705					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2113C>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	c	9.091	1.001616	0.19121	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.92	3.18	0.36537	.	0.245359	0.42420	N	0.000717	T	0.55337	0.1914	L	0.56769	1.78	0.80722	D	1	B	0.24483	0.104	B	0.16289	0.015	T	0.54180	-0.8332	9	0.48119	T	0.1	-3.1137	11.1685	0.48558	0.0:0.8482:0.0:0.1518	.	705	Q9ULD6	PDZD6_HUMAN	C	705	.	ENSP00000334003:R705C	R	+	1	0	INTU	128847416	1.000000	0.71417	0.984000	0.44739	0.009000	0.06853	1.823000	0.39062	0.776000	0.33473	-0.127000	0.14921	CGC		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		35	49	0	0	0	1	0	35	49				
POTEF	728378	broad.mit.edu	37	2	130877827	130877827	+	Missense_Mutation	SNP	C	C	T	rs375199302		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130877827C>T	ENST00000409914.2	-	3	661	c.262G>A	c.(262-264)Gac>Aac	p.D88N	POTEF_ENST00000357462.5_Missense_Mutation_p.D88N|POTEF_ENST00000360967.5_Missense_Mutation_p.D88N|POTEF_ENST00000361163.4_Missense_Mutation_p.D88N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	88					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATAGCAGAGTCGTCGTGGTCT	0.617													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19998	0.0		0.0	False		,,,				2504	0.0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(262-264)Gac>Aac		POTE ankyrin domain family, member F		C	ASN/ASP	4,4402		0,4,2199	92.0	119.0	110.0		262	0.6	0.0	2		110	0,8588		0,0,4294	no	missense	POTEF	NM_001099771.2	23	0,4,6493	TT,TC,CC		0.0,0.0908,0.0308	benign	88/1076	130877827	4,12990	2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877827C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.262G>A	2.37:g.130877827C>T	ENSP00000386786:p.Asp88Asn					POTEF_ENST00000361163.4_Missense_Mutation_p.D88N|POTEF_ENST00000409914.2_Missense_Mutation_p.D88N|POTEF_ENST00000360967.5_Missense_Mutation_p.D88N	p.D88N			A5A3E0	POTEF_HUMAN			1	355	-			88					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.262G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	2.932	-0.220790	0.06061	9.08E-4	0.0	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78003	-1.14;-1.14;1.69;1.73	0.62	0.62	0.17637	.	.	.	.	.	T	0.55513	0.1925	L	0.33485	1.01	0.09310	N	1	P	0.47841	0.901	B	0.28991	0.097	T	0.45483	-0.9258	8	0.21540	T	0.41	.	.	.	.	.	88	A5A3E0	POTEF_HUMAN	N	88	ENSP00000350052:D88N;ENSP00000386786:D88N;ENSP00000354232:D88N;ENSP00000355012:D88N	ENSP00000350052:D88N	D	-	1	0	POTEF	130594297	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.176000	0.16782	0.596000	0.29794	0.164000	0.16699	GAC		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		67	165	0	0	0	1	0	67	165				
ITFG1	81533	broad.mit.edu	37	16	47488059	47488059	+	Missense_Mutation	SNP	C	C	T	rs148994423	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:47488059C>T	ENST00000320640.6	-	3	520	c.292G>A	c.(292-294)Gca>Aca	p.A98T	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	98						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GTTATCAATGCACTGTGATTC	0.343																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(292-294)Gca>Aca		integrin alpha FG-GAP repeat containing 1		C	THR/ALA	0,4402		0,0,2201	131.0	132.0	132.0		292	-3.7	0.9	16	dbSNP_134	132	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITFG1	NM_030790.3	58	0,11,6490	TT,TC,CC		0.1279,0.0,0.0846	benign	98/613	47488059	11,12991	2201	4300	6501	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47488059C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.292G>A	16.37:g.47488059C>T	ENSP00000319918:p.Ala98Thr					ITFG1_ENST00000544001.2_5'UTR	p.A98T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			3	520	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	98					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.292G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410498	0.42715	0.0	0.001279	ENSG00000129636	ENST00000320640	.	.	.	5.99	-3.67	0.04476	.	0.482852	0.21375	N	0.075570	T	0.31670	0.0804	N	0.19112	0.55	0.58432	D	0.999991	B	0.09022	0.002	B	0.10450	0.005	T	0.08764	-1.0706	9	0.13470	T	0.59	-24.5385	8.2649	0.31808	0.0986:0.5367:0.0:0.3646	.	98	Q8TB96	TIP_HUMAN	T	98	.	ENSP00000319918:A98T	A	-	1	0	ITFG1	46045560	0.213000	0.23551	0.943000	0.38184	0.993000	0.82548	0.069000	0.14552	-0.398000	0.07679	0.655000	0.94253	GCA		0.343	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		46	86	0	0	0	1	0	46	86				
TAX1BP1	8887	broad.mit.edu	37	7	27827122	27827122	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27827122G>T	ENST00000396319.2	+	8	1026	c.938G>T	c.(937-939)aGc>aTc	p.S313I	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.S156I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.S313I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.S313I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	313					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACAAAGAAAGCGTGATTACT	0.358																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(937-939)aGc>aTc		Tax1 (human T-cell leukemia virus type I) binding protein 1							79.0	84.0	82.0					7																	27827122		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27827122G>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.938G>T	7.37:g.27827122G>T	ENSP00000379612:p.Ser313Ile					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.S313I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.S313I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.S156I	p.S313I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		8	1026	+			313					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.938G>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403048	0.42613	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.31510	2.9;2.9;2.9;1.49;2.9	5.98	-3.19	0.05171	.	0.434355	0.21481	N	0.073836	T	0.15565	0.0375	N	0.14661	0.345	0.28906	N	0.892996	B;B;B	0.24675	0.109;0.04;0.005	B;B;B	0.30943	0.122;0.063;0.038	T	0.18272	-1.0342	10	0.41790	T	0.15	-0.0271	8.5971	0.33723	0.6849:0.1257:0.1895:0.0	.	156;313;313	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	313;313;313;156;313	ENSP00000444811:S313I;ENSP00000265393:S313I;ENSP00000386515:S313I;ENSP00000391907:S156I;ENSP00000379612:S313I	ENSP00000265393:S313I	S	+	2	0	TAX1BP1	27793647	0.984000	0.35163	0.909000	0.35828	0.979000	0.70002	0.882000	0.28186	-0.175000	0.10725	0.650000	0.86243	AGC		0.358	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		29	32	1	0	5.77227e-19	1	6.37883e-19	29	32				
GRSF1	2926	broad.mit.edu	37	4	71693681	71693681	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:71693681G>A	ENST00000254799.6	-	6	1140	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	GRSF1_ENST00000545193.1_Silent_p.I223I|GRSF1_ENST00000439371.1_Silent_p.I179I|GRSF1_ENST00000502323.1_Silent_p.I179I|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	341					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GAAAAGATGCGATTTTCTTTC	0.373																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1021-1023)atC>atT		G-rich RNA sequence binding factor 1							182.0	174.0	177.0					4																	71693681		1856	4099	5955	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693681G>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1023C>T	4.37:g.71693681G>A						GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.I179I|GRSF1_ENST00000439371.1_Silent_p.I179I|GRSF1_ENST00000545193.1_Silent_p.I223I	p.I341I	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1140	-		all_hematologic(202;0.21)	341					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.1023C>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515583	0.44763	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.77	1.01	0.19927	.	.	.	.	.	T	0.57784	0.2077	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.55198	-0.8178	5	0.87932	D	0	-4.8463	3.6815	0.08312	0.2329:0.5213:0.1158:0.1301	.	.	.	.	L	278	.	ENSP00000427644:S106L	S	-	2	0	GRSF1	71912545	0.000000	0.05858	0.959000	0.39883	0.873000	0.50193	-0.612000	0.05616	-0.060000	0.13132	-1.134000	0.01955	TCG		0.373	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		4	76	0	0	0	1	0	4	76				
SEMA3G	56920	broad.mit.edu	37	3	52475658	52475658	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52475658G>T	ENST00000231721.2	-	6	598	c.599C>A	c.(598-600)gCc>gAc	p.A200D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	200	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAAGATCATGGCCTCTCGCCC	0.652																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(598-600)gCc>gAc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							58.0	58.0	58.0					3																	52475658		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475658G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.599C>A	3.37:g.52475658G>T	ENSP00000231721:p.Ala200Asp						p.A200D	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	6	598	-			200			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.599C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675151	0.67928	.	.	ENSG00000010319	ENST00000231721	T	0.12255	2.7	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.179084	0.50627	D	0.000117	T	0.40570	0.1122	M	0.88842	2.985	0.34937	D	0.749965	P	0.46912	0.886	P	0.56474	0.799	T	0.60994	-0.7152	10	0.54805	T	0.06	.	17.5353	0.87829	0.0:0.0:1.0:0.0	.	200	Q9NS98	SEM3G_HUMAN	D	200	ENSP00000231721:A200D	ENSP00000231721:A200D	A	-	2	0	SEMA3G	52450698	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.851000	0.62896	2.249000	0.74217	0.462000	0.41574	GCC		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		14	11	1	0	4.3838e-07	1	4.58243e-07	14	11				
RBM42	79171	broad.mit.edu	37	19	36122298	36122298	+	Missense_Mutation	SNP	C	C	T	rs538251490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36122298C>T	ENST00000262633.4	+	4	538	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RBM42_ENST00000589559.1_Missense_Mutation_p.R145W|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	145						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R145W(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGTTCCTGCGGCGGGCAGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18214	0.001		0.0	False		,,,				2504	0.0					ENST00000262633.4																			1	Substitution - Missense(1)	p.R145W(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(433-435)Cgg>Tgg		RNA binding motif protein 42							68.0	65.0	66.0					19																	36122298		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36122298C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.433C>T	19.37:g.36122298C>T	ENSP00000262633:p.Arg145Trp					RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W|RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.R145W	p.R145W	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	538	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		145					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.433C>T	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682969	0.68157	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.07908	3.22;3.15	4.99	3.89	0.44902	.	0.401671	0.24202	N	0.040601	T	0.14098	0.0341	N	0.22421	0.69	0.36145	D	0.847061	D;D;D;D	0.89917	1.0;0.983;0.983;0.999	D;B;B;D	0.70016	0.967;0.35;0.35;0.952	T	0.15464	-1.0436	10	0.46703	T	0.11	-11.7084	9.8339	0.40958	0.2832:0.7168:0.0:0.0	.	145;145;145;145	B4DWT0;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	W	145	ENSP00000262633:R145W;ENSP00000353663:R145W	ENSP00000262633:R145W	R	+	1	2	RBM42	40814138	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.130000	0.42092	0.555000	0.69702	CGG		0.567	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		26	28	0	0	0	1	0	26	28				
POGZ	23126	broad.mit.edu	37	1	151396574	151396574	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396574G>A	ENST00000271715.2	-	9	1688	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.G396G|POGZ_ENST00000392723.1_Silent_p.G405G|POGZ_ENST00000368863.2_Silent_p.G363G|POGZ_ENST00000409503.1_Silent_p.G449G|POGZ_ENST00000361398.3_Silent_p.G405G|POGZ_ENST00000491586.1_Silent_p.G405G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	458					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACGGCATCGCCCACGTTCT	0.507																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1372-1374)ggC>ggT		pogo transposable element with ZNF domain							201.0	185.0	190.0					1																	151396574		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396574G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1374C>T	1.37:g.151396574G>A						POGZ_ENST00000368863.2_Silent_p.G363G|POGZ_ENST00000361398.3_Silent_p.G405G|POGZ_ENST00000392723.1_Silent_p.G405G|POGZ_ENST00000409503.1_Silent_p.G449G|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.G405G|POGZ_ENST00000531094.1_Silent_p.G396G	p.G458G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1688	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		458					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1374C>T	CCDS997.1																																																																																				0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		27	51	0	0	0	1	0	27	51				
ZNF14	7561	broad.mit.edu	37	19	19822634	19822634	+	Missense_Mutation	SNP	G	G	A	rs200075394	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19822634G>A	ENST00000344099.3	-	4	1594	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GAACTGGAACGAATGAAAACT	0.403													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22298	0.0		0.0	False		,,,				2504	0.0					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1456-1458)Cgt>Tgt		zinc finger protein 14							85.0	80.0	82.0					19																	19822634		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822634G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1456C>T	19.37:g.19822634G>A	ENSP00000340514:p.Arg486Cys						p.R486C	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1594	-		Renal(1328;0.0474)	486					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1456C>T	CCDS12409.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.61	1.689042	0.29962	.	.	ENSG00000105708	ENST00000344099	T	0.16073	2.37	1.8	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	L	0.43701	1.375	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35475	-0.9787	9	0.26408	T	0.33	.	3.5159	0.07725	0.2951:0.2175:0.4874:0.0	.	486	P17017	ZNF14_HUMAN	C	486	ENSP00000340514:R486C	ENSP00000340514:R486C	R	-	1	0	ZNF14	19683634	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	-0.131000	0.10482	-0.404000	0.07610	0.467000	0.42956	CGT		0.403	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	93	0	0	0	1	0	5	93				
DHCR7	1717	broad.mit.edu	37	11	71155238	71155238	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71155238G>A	ENST00000355527.3	-	4	398	c.122C>T	c.(121-123)gCg>gTg	p.A41V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A41V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	41					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GATGACGCTCGCCAGTGAAAA	0.607									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(121-123)gCg>gTg		7-dehydrocholesterol reductase	NADH(DB00157)						48.0	40.0	43.0					11																	71155238		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71155238G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.122C>T	11.37:g.71155238G>A	ENSP00000347717:p.Ala41Val					DHCR7_ENST00000407721.2_Missense_Mutation_p.A41V	p.A41V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			4	398	-			41					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.122C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	1.486	-0.556013	0.03967	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000526780;ENST00000525346;ENST00000531364;ENST00000529990;ENST00000527452	D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-3.8;-2.81;-2.71;-3.08;-2.47	4.63	-0.813	0.10850	.	0.532611	0.20739	N	0.086573	D	0.89269	0.6667	N	0.13235	0.315	0.19575	N	0.999962	B	0.14805	0.011	B	0.12156	0.007	T	0.77902	-0.2414	10	0.07482	T	0.82	-9.0159	7.5914	0.28023	0.217:0.2229:0.5601:0.0	.	41	Q9UBM7	DHCR7_HUMAN	V	41;41;41;41;41;41;21;41	ENSP00000384739:A41V;ENSP00000347717:A41V;ENSP00000435668:A41V;ENSP00000435707:A41V;ENSP00000432589:A41V;ENSP00000435058:A21V;ENSP00000436007:A41V	ENSP00000347717:A41V	A	-	2	0	DHCR7	70832886	0.657000	0.27393	0.006000	0.13384	0.001000	0.01503	1.226000	0.32563	-0.730000	0.04869	-2.498000	0.00192	GCG		0.607	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		4	4	0	0	0	1	0	4	4				
DYRK4	8798	broad.mit.edu	37	12	4700381	4700381	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4700381C>A	ENST00000540757.2	+	3	195	c.35C>A	c.(34-36)cCt>cAt	p.P12H	DYRK4_ENST00000543431.1_Missense_Mutation_p.P12H|DYRK4_ENST00000010132.5_Missense_Mutation_p.P12H	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	12						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCAGAAATACCTTTCCACCCT	0.483																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(34-36)cCt>cAt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							88.0	79.0	82.0					12																	4700381		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4700381C>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.35C>A	12.37:g.4700381C>A	ENSP00000441755:p.Pro12His					DYRK4_ENST00000543431.1_Missense_Mutation_p.P12H|DYRK4_ENST00000010132.5_Missense_Mutation_p.P12H	p.P12H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		3	195	+			12					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.35C>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233538	0.39498	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64438	-0.1;-0.08;-0.08;-0.08	4.34	-1.3	0.09259	.	1.092680	0.07238	N	0.863748	T	0.50905	0.1643	L	0.51422	1.61	0.09310	N	1	P;P;D	0.55172	0.785;0.545;0.97	B;B;B	0.41946	0.345;0.371;0.343	T	0.46428	-0.9192	10	0.44086	T	0.13	.	4.2242	0.10572	0.0:0.3383:0.1804:0.4813	.	127;12;12	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	H	127;12;12;12	ENSP00000437534:P127H;ENSP00000441755:P12H;ENSP00000010132:P12H;ENSP00000439697:P12H	ENSP00000010132:P12H	P	+	2	0	DYRK4	4570642	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-0.123000	0.10611	-0.140000	0.11394	0.505000	0.49811	CCT		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			16	32	1	0	2.23348e-06	1	2.32236e-06	16	32				
ISG20L2	81875	broad.mit.edu	37	1	156693974	156693974	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156693974T>C	ENST00000313146.6	-	2	1696	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ISG20L2_ENST00000368219.1_Missense_Mutation_p.H305R|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	305	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTGGTGAGATGCTTCAGAGA	0.587																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(913-915)cAt>cGt		interferon stimulated exonuclease gene 20kDa-like 2							116.0	115.0	115.0					1																	156693974		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156693974T>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.914A>G	1.37:g.156693974T>C	ENSP00000323424:p.His305Arg					ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Missense_Mutation_p.H305R	p.H305R	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1696	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		305			Exonuclease.		D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.914A>G	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	0.970	-0.700334	0.03279	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.20881	2.04;2.04	5.73	-4.7	0.03288	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.919658	0.09370	N	0.811459	T	0.01454	0.0047	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.22706	T	0.39	2.7785	7.192	0.25831	0.1097:0.3546:0.0:0.5356	.	305	Q9H9L3	I20L2_HUMAN	R	305	ENSP00000323424:H305R;ENSP00000357202:H305R	ENSP00000323424:H305R	H	-	2	0	ISG20L2	154960598	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.748000	0.04818	-1.335000	0.02241	-1.857000	0.00563	CAT		0.587	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		13	57	0	0	0	1	0	13	57				
AIM1	202	broad.mit.edu	37	6	106960748	106960748	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:106960748C>T	ENST00000369066.3	+	1	1019	c.532C>T	c.(532-534)Cac>Tac	p.H178Y		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAGCCCGAGCACAAGAGGGG	0.716																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(532-534)Cac>Tac		absent in melanoma 1							10.0	14.0	13.0					6																	106960748		2153	4266	6419	SO:0001583	missense	202						sugar binding	g.chr6:106960748C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.532C>T	6.37:g.106960748C>T	ENSP00000358062:p.His178Tyr						p.H178Y	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	1019	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	178					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.532C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401192	0.83120	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.73363	-0.74	4.96	4.96	0.65561	.	1.022140	0.07863	N	0.966731	T	0.59376	0.2189	L	0.59436	1.845	0.80722	D	1	P	0.40211	0.707	B	0.34991	0.193	T	0.56980	-0.7889	10	0.23302	T	0.38	.	15.3619	0.74483	0.0:1.0:0.0:0.0	.	178	Q9Y4K1	AIM1_HUMAN	Y	586;178	ENSP00000358062:H178Y	ENSP00000285105:H586Y	H	+	1	0	AIM1	107067441	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	0.818000	0.27295	2.295000	0.77249	0.561000	0.74099	CAC		0.716	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			3	3	0	0	0	1	0	3	3				
OTOS	150677	broad.mit.edu	37	2	241078658	241078658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241078658C>T	ENST00000391989.2	-	5	429	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.A67T|MYEOV2_ENST00000607357.1_5'Flank			Q8NHW6	OTOSP_HUMAN	otospiralin	67					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAGGTTCGGGCCATGTCCTCG	0.637																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(199-201)Gcc>Acc		otospiralin							75.0	77.0	76.0					2																	241078658		2203	4300	6503	SO:0001583	missense	150677					extracellular region		g.chr2:241078658C>T		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.199G>A	2.37:g.241078658C>T	ENSP00000375849:p.Ala67Thr					OTOS_ENST00000319460.1_Missense_Mutation_p.A67T	p.A67T			Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	5	429	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	67					Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	c.199G>A	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485079	0.63962	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.61158	0.13;0.13	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	.	.	.	0.53005	D	0.999963	D	0.89917	1.0	D	0.83275	0.996	T	0.78800	-0.2062	9	0.87932	D	0	-6.8904	12.8596	0.57906	0.0:1.0:0.0:0.0	.	67	Q8NHW6	OTOSP_HUMAN	T	67	ENSP00000375849:A67T;ENSP00000322486:A67T	ENSP00000322486:A67T	A	-	1	0	OTOS	240727331	1.000000	0.71417	0.999000	0.59377	0.304000	0.27724	6.661000	0.74422	1.688000	0.51068	0.205000	0.17691	GCC		0.637	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		16	28	0	0	0	1	0	16	28				
POLD2	5425	broad.mit.edu	37	7	44154942	44154942	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44154942C>T	ENST00000406581.2	-	11	1850	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	POLD2_ENST00000452185.1_Missense_Mutation_p.V401I|POLD2_ENST00000223361.3_Missense_Mutation_p.V387I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	401					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAAAAGTAGACATGCGGGCAC	0.532																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1201-1203)Gtc>Atc		polymerase (DNA directed), delta 2, accessory subunit							87.0	96.0	93.0					7																	44154942		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154942C>T		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1201G>A	7.37:g.44154942C>T	ENSP00000386105:p.Val401Ile					POLD2_ENST00000223361.3_Missense_Mutation_p.V387I|POLD2_ENST00000452185.1_Missense_Mutation_p.V401I	p.V401I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			11	1850	-			401					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1201G>A	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264777	0.80358	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.30448	1.53;1.56;1.53	5.95	5.95	0.96441	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	L	0.50919	1.6	0.80722	D	1	P;P	0.42908	0.612;0.793	B;B	0.44108	0.441;0.326	T	0.01839	-1.1263	10	0.19590	T	0.45	-13.3314	19.9958	0.97383	0.0:1.0:0.0:0.0	.	401;387	P49005;F8W8R3	DPOD2_HUMAN;.	I	401;387;401	ENSP00000386105:V401I;ENSP00000223361:V387I;ENSP00000395231:V401I	ENSP00000223361:V387I	V	-	1	0	POLD2	44121467	0.999000	0.42202	0.980000	0.43619	0.950000	0.60333	4.132000	0.57977	2.825000	0.97269	0.655000	0.94253	GTC		0.532	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		8	56	0	0	0	1	0	8	56				
SLC38A11	151258	broad.mit.edu	37	2	165771691	165771691	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165771691C>T	ENST00000409149.3	-	8	904	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V236M|SLC38A11_ENST00000409662.1_Missense_Mutation_p.V205M|SLC38A11_ENST00000303735.4_Missense_Mutation_p.V183M	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	205					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.V183M(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACAGAAATCACGATGGACATA	0.378																																						ENST00000303735.4																			1	Substitution - Missense(1)	p.V183M(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(547-549)Gtg>Atg		solute carrier family 38, member 11							118.0	113.0	114.0					2																	165771691		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165771691C>T		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.613G>A	2.37:g.165771691C>T	ENSP00000386272:p.Val205Met					SLC38A11_ENST00000409662.1_Missense_Mutation_p.V205M|SLC38A11_ENST00000409149.3_Missense_Mutation_p.V205M|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V236M|SLC38A11_ENST00000493887.1_5'UTR	p.V183M	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			7	877	-			205					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.547G>A	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	4.346	0.063719	0.08388	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.98	-1.09	0.09904	.	0.746306	0.13465	N	0.385839	T	0.01730	0.0055	N	0.11560	0.145	0.09310	N	1	B;B	0.23854	0.092;0.041	B;B	0.22880	0.042;0.025	T	0.46884	-0.9159	10	0.34782	T	0.22	0.4164	8.6632	0.34106	0.5199:0.354:0.1261:0.0	.	205;183	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	M	183;205;236;205	ENSP00000306178:V183M;ENSP00000386272:V205M;ENSP00000387345:V236M;ENSP00000386774:V205M	ENSP00000306178:V183M	V	-	1	0	SLC38A11	165479937	0.419000	0.25449	0.004000	0.12327	0.119000	0.20118	0.942000	0.29017	-0.048000	0.13401	0.655000	0.94253	GTG		0.378	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		14	46	0	0	0	1	0	14	46				
ANKRD52	283373	broad.mit.edu	37	12	56641924	56641924	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56641924C>T	ENST00000267116.7	-	18	1982	c.1861G>A	c.(1861-1863)Gca>Aca	p.A621T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	621										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGAAGAGTGCGGTCCGGCCC	0.632																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1861-1863)Gca>Aca		ankyrin repeat domain 52							69.0	73.0	72.0					12																	56641924		2110	4218	6328	SO:0001583	missense	283373						protein binding	g.chr12:56641924C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1861G>A	12.37:g.56641924C>T	ENSP00000267116:p.Ala621Thr						p.A621T	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	1982	-			621					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1861G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574009	0.86542	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.60171	0.21	4.38	3.48	0.39840	Ankyrin repeat-containing domain (4);	0.119694	0.56097	D	0.000029	T	0.67411	0.2890	M	0.74647	2.275	0.43874	D	0.996481	P	0.51653	0.947	P	0.52481	0.7	T	0.73338	-0.4014	10	0.72032	D	0.01	.	13.6474	0.62290	0.0:0.8433:0.1567:0.0	.	621	Q8NB46	ANR52_HUMAN	T	621	ENSP00000267116:A621T	ENSP00000267116:A621T	A	-	1	0	ANKRD52	54928191	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.737000	0.62066	1.200000	0.43188	0.313000	0.20887	GCA		0.632	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		20	34	0	0	0	1	0	20	34				
NBPF1	55672	broad.mit.edu	37	1	16892269	16892269	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16892269G>A	ENST00000430580.2	-	27	3810	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	975	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGACTTCAGGCTCTACTGCC	0.488																																						ENST00000430580.2																			0											c.(2923-2925)Cct>Tct		neuroblastoma breakpoint family, member 1							22.0	18.0	19.0					1																	16892269		1490	2607	4097	SO:0001583	missense	55672					cytoplasm		g.chr1:16892269G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2923C>T	1.37:g.16892269G>A	ENSP00000474456:p.Pro975Ser						p.P975S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3810	-			975			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2923C>T																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		26	1306	0	0	0	1	0	26	1306				
FLNC	2318	broad.mit.edu	37	7	128478072	128478072	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128478072G>A	ENST00000325888.8	+	6	1262	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	FLNC_ENST00000346177.6_Missense_Mutation_p.R334H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	334					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GACAAGGATCGCACCTATGCT	0.542																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1000-1002)cGc>cAc		filamin C, gamma							134.0	145.0	142.0					7																	128478072		2096	4218	6314	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478072G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1001G>A	7.37:g.128478072G>A	ENSP00000327145:p.Arg334His					FLNC_ENST00000346177.6_Missense_Mutation_p.R334H	p.R334H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			6	1262	+			334					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1001G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383845	0.82792	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.057271	0.64402	D	0.000006	T	0.73900	0.3646	L	0.61218	1.895	0.41718	D	0.989499	D;D	0.76494	0.999;0.997	D;D	0.66497	0.944;0.938	T	0.76027	-0.3109	10	0.66056	D	0.02	.	11.9853	0.53145	0.0875:0.0:0.9125:0.0	.	334;334	Q14315-2;Q14315	.;FLNC_HUMAN	H	334	ENSP00000327145:R334H;ENSP00000344002:R334H	ENSP00000327145:R334H	R	+	2	0	FLNC	128265308	0.827000	0.29292	0.998000	0.56505	0.749000	0.42624	3.226000	0.51254	2.651000	0.90000	0.655000	0.94253	CGC		0.542	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			28	46	0	0	0	1	0	28	46				
THBS4	7060	broad.mit.edu	37	5	79378293	79378293	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79378293C>T	ENST00000350881.2	+	21	2939	c.2749C>T	c.(2749-2751)Cgt>Tgt	p.R917C	THBS4_ENST00000511733.1_Missense_Mutation_p.R826C|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	917	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACCACAATGCGTGGAGGCCG	0.512																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2749-2751)Cgt>Tgt		thrombospondin 4							146.0	125.0	132.0					5																	79378293		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79378293C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2749C>T	5.37:g.79378293C>T	ENSP00000339730:p.Arg917Cys					CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.R826C	p.R917C	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	21	2939	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	917			TSP C-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2749C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391782	0.83011	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.95724	-3.79;-3.79	4.84	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98212	1.0473	10	0.87932	D	0	-16.9165	18.5078	0.90904	0.0:1.0:0.0:0.0	.	917	P35443	TSP4_HUMAN	C	917;826	ENSP00000339730:R917C;ENSP00000422298:R826C	ENSP00000339730:R917C	R	+	1	0	THBS4	79414049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.086000	0.71352	2.677000	0.91161	0.655000	0.94253	CGT		0.512	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			14	62	0	0	0	1	0	14	62				
CHRNB1	1140	broad.mit.edu	37	17	7359976	7359976	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7359976C>T	ENST00000306071.2	+	11	1507	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	CHRNB1_ENST00000575379.1_Silent_p.S16S|CHRNB1_ENST00000576360.1_Silent_p.S359S|CHRNB1_ENST00000536404.2_Silent_p.S408S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	480					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCTTCACCAGCGTTGGGACCC	0.577																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(1438-1440)agC>agT		cholinergic receptor, nicotinic, beta 1 (muscle)							194.0	148.0	163.0					17																	7359976		2203	4300	6503	SO:0001819	synonymous_variant	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7359976C>T	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1440C>T	17.37:g.7359976C>T						CHRNB1_ENST00000536404.2_Silent_p.S408S|CHRNB1_ENST00000576360.1_Silent_p.S359S|CHRNB1_ENST00000575379.1_Silent_p.S16S	p.S480S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			11	1507	+		Prostate(122;0.157)	480					B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	c.1440C>T	CCDS11106.1																																																																																				0.577	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			29	34	0	0	0	1	0	29	34				
TTC9C	283237	broad.mit.edu	37	11	62505762	62505762	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62505762G>A	ENST00000316461.4	+	3	734	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	TTC9C_ENST00000532583.1_Missense_Mutation_p.A142T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	142										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						CTTCCAAGATGCCAACGTCCG	0.448																																						ENST00000316461.4																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						c.(424-426)Gcc>Acc		tetratricopeptide repeat domain 9C							57.0	50.0	52.0					11																	62505762		2202	4299	6501	SO:0001583	missense	283237						binding	g.chr11:62505762G>A	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.424G>A	11.37:g.62505762G>A	ENSP00000325266:p.Ala142Thr					TTC9C_ENST00000532583.1_Missense_Mutation_p.A142T	p.A142T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN			3	734	+			142					Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.424G>A	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334579	0.24253	.	.	ENSG00000162222	ENST00000316461;ENST00000532583;ENST00000532276	T;T;T	0.75050	2.28;2.28;-0.9	6.07	4.16	0.48862	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.62282	0.2415	L	0.41492	1.28	0.80722	D	1	B	0.19445	0.036	B	0.15870	0.014	T	0.52997	-0.8500	9	0.17832	T	0.49	.	10.2218	0.43201	0.166:0.0:0.834:0.0	.	142	Q8N5M4	TTC9C_HUMAN	T	142;142;40	ENSP00000325266:A142T;ENSP00000434340:A142T;ENSP00000434137:A40T	ENSP00000325266:A142T	A	+	1	0	TTC9C	62262338	0.973000	0.33851	0.996000	0.52242	0.989000	0.77384	1.766000	0.38491	0.849000	0.35215	0.655000	0.94253	GCC		0.448	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		8	17	0	0	0	1	0	8	17				
ROCK1	6093	broad.mit.edu	37	18	18533607	18533607	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:18533607C>T	ENST00000399799.2	-	32	4933	c.3993G>A	c.(3991-3993)acG>acA	p.T1331T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1331	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTGTAGAAAGCGTTCGAGGGG	0.373																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3991-3993)acG>acA		Rho-associated, coiled-coil containing protein kinase 1							161.0	170.0	167.0					18																	18533607		2201	4298	6499	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18533607C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3993G>A	18.37:g.18533607C>T							p.T1331T	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			32	4933	-	Melanoma(1;0.165)		1331			Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.3993G>A	CCDS11870.2																																																																																				0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		68	87	0	0	0	1	0	68	87				
KHSRP	8570	broad.mit.edu	37	19	6415312	6415312	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6415312G>A	ENST00000398148.3	-	19	2059	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	CTB-180A7.8_ENST00000398173.3_lincRNA|MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	656	4 X 12 AA imperfect repeats.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGCCACTTGCGCTGTGGGTGG	0.642																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e19-1		KH-type splicing regulatory protein							23.0	26.0	25.0					19																	6415312		1976	4139	6115	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6415312G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1967-1C>T	19.37:g.6415312G>A							p.A656_splice	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			19	2059	-			656			4 X 12 AA imperfect repeats.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	c.1966_splice	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	5.964	0.361860	0.11296	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.49432	0.78	4.23	4.23	0.50019	.	0.086340	0.44285	U	0.000477	T	0.35653	0.0939	L	0.47716	1.5	0.80722	D	1	P	0.40211	0.707	B	0.25884	0.064	T	0.35001	-0.9806	10	0.33141	T	0.24	.	15.903	0.79397	0.0:0.0:1.0:0.0	.	656	Q92945	FUBP2_HUMAN	V	656	ENSP00000381216:A656V	ENSP00000201886:A656V	A	-	2	0	KHSRP	6366312	1.000000	0.71417	0.959000	0.39883	0.366000	0.29705	4.470000	0.60175	2.348000	0.79779	0.655000	0.94253	GCG		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Missense_Mutation	9	25	0	0	0	1	0	9	25				
ARHGEF5	7984	broad.mit.edu	37	7	144070324	144070324	+	Nonsense_Mutation	SNP	C	C	T	rs150657398	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:144070324C>T	ENST00000056217.5	+	10	4261	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R285*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1363					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGAGTATGCGACGGACAGA	0.522																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4087-4089)Cga>Tga		Rho guanine nucleotide exchange factor (GEF) 5							123.0	113.0	117.0					7																	144070324		2068	4097	6165	SO:0001587	stop_gained	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070324C>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4087C>T	7.37:g.144070324C>T	ENSP00000056217:p.Arg1363*					ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R285*	p.R1363*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			10	4261	+	Melanoma(164;0.14)		1363					A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	ENST00000056217.5	37	c.4087C>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	43	9.918621	0.99295	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	.	.	.	4.54	4.54	0.55810	.	0.149974	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5765	9.9605	0.41693	0.2022:0.7977:0.0:0.0	.	.	.	.	X	1363;218;285	.	ENSP00000056217:R1363X	R	+	1	2	ARHGEF5	143701257	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	6.274000	0.72587	2.344000	0.79699	0.655000	0.94253	CGA		0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		28	56	0	0	0	1	0	28	56				
SSH1	54434	broad.mit.edu	37	12	109182100	109182100	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109182100G>A	ENST00000326495.5	-	15	2907	c.2814C>T	c.(2812-2814)agC>agT	p.S938S	SSH1_ENST00000360239.3_Silent_p.S626S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	938	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATGCTATCGCTGCTGGAGC	0.602																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2812-2814)agC>agT		slingshot protein phosphatase 1							60.0	65.0	63.0					12																	109182100		2202	4295	6497	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182100G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2814C>T	12.37:g.109182100G>A						SSH1_ENST00000360239.3_Silent_p.S626S	p.S938S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2907	-			938			Interaction with YWHAG.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.2814C>T	CCDS9121.1																																																																																				0.602	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		31	37	0	0	0	1	0	31	37				
AIFM2	84883	broad.mit.edu	37	10	71874699	71874699	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71874699C>T	ENST00000307864.1	-	8	1160	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	AIFM2_ENST00000373248.1_Missense_Mutation_p.R316Q|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	316					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGGAGAGGCCGCTGCTTCAC	0.562																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(946-948)cGg>cAg		apoptosis-inducing factor, mitochondrion-associated, 2							43.0	38.0	40.0					10																	71874699		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874699C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.947G>A	10.37:g.71874699C>T	ENSP00000312370:p.Arg316Gln					AIFM2_ENST00000373248.1_Missense_Mutation_p.R316Q|AIFM2_ENST00000482166.1_5'UTR	p.R316Q	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			8	1160	-			316					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.947G>A	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866994	0.32977	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.30182	1.54;1.54	5.8	3.72	0.42706	.	0.247619	0.45606	D	0.000352	T	0.15739	0.0379	N	0.19112	0.55	0.31366	N	0.680805	B	0.17268	0.021	B	0.13407	0.009	T	0.06625	-1.0816	10	0.31617	T	0.26	-32.1571	3.4834	0.07610	0.0:0.5448:0.2782:0.177	.	316	Q9BRQ8	AIFM2_HUMAN	Q	316;316;279	ENSP00000362345:R316Q;ENSP00000312370:R316Q	ENSP00000312370:R316Q	R	-	2	0	AIFM2	71544705	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.032000	0.41127	1.454000	0.47793	0.563000	0.77884	CGG		0.562	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		5	15	0	0	0	1	0	5	15				
DNM1L	10059	broad.mit.edu	37	12	32886741	32886741	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32886741G>A	ENST00000549701.1	+	13	1613	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site_p.E310E|DNM1L_ENST00000553257.1_Splice_Site_p.E526E|DNM1L_ENST00000452533.2_Splice_Site_p.E513E|DNM1L_ENST00000381000.4_Splice_Site_p.E526E|DNM1L_ENST00000547312.1_Splice_Site_p.E513E|DNM1L_ENST00000358214.5_Splice_Site_p.E526E|DNM1L_ENST00000266481.6_Splice_Site_p.E513E			O00429	DNM1L_HUMAN	dynamin 1-like	513	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATAATATAGAGGTAAATATAA	0.313																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.e13+1		dynamin 1-like							113.0	118.0	117.0					12																	32886741		2203	4298	6501	SO:0001630	splice_region_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886741G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1539+1G>A	12.37:g.32886741G>A						YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Splice_Site_p.E513_splice|DNM1L_ENST00000553257.1_Splice_Site_p.E526_splice|DNM1L_ENST00000547312.1_Splice_Site_p.E513_splice|DNM1L_ENST00000381000.4_Splice_Site_p.E526_splice|DNM1L_ENST00000414834.2_Splice_Site_p.E310_splice|DNM1L_ENST00000358214.5_Splice_Site_p.E526_splice|DNM1L_ENST00000266481.6_Splice_Site_p.E513_splice	p.E513_splice	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1703	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		513			B domain.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Splice_Site	SNP	ENST00000549701.1	37	c.1539_splice	CCDS8729.1																																																																																				0.313	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	Silent	52	62	0	0	0	1	0	52	62				
MYH11	4629	broad.mit.edu	37	16	15820787	15820787	+	Missense_Mutation	SNP	G	G	A	rs138623948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15820787G>A	ENST00000300036.5	-	28	3885	c.3776C>T	c.(3775-3777)gCg>gTg	p.A1259V	MYH11_ENST00000452625.2_Missense_Mutation_p.A1266V|MYH11_ENST00000396324.3_Missense_Mutation_p.A1266V|MYH11_ENST00000576790.2_Missense_Mutation_p.A1259V|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1259			Missing (in AAT4). {ECO:0000269|PubMed:16444274}.		axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGCACCTGCGCCTCCAGCTT	0.637			T	CBFB	AML								G|||	1	0.000199681	0.0008	0.0	5008	,	,		15667	0.0		0.0	False		,,,				2504	0.0					ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3775-3777)gCg>gTg		myosin, heavy chain 11, smooth muscle		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	3,4391	6.2+/-15.9	0,3,2194	114.0	125.0	122.0		3797,3797,3776,3776	-0.9	1.0	16	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense,missense,missense	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	64,64,64,64	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	benign,benign,benign,benign	1266/1946,1266/1980,1259/1973,1259/1939	15820787	3,12991	2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15820787G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3776C>T	16.37:g.15820787G>A	ENSP00000300036:p.Ala1259Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A1259V|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.A1266V|MYH11_ENST00000396324.3_Missense_Mutation_p.A1266V|MYH11_ENST00000300036.5_Missense_Mutation_p.A1259V	p.A1259V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			28	3882	-			1259		Missing (in AAT4).			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3776C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943383	0.34283	6.83E-4	0.0	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.68	-0.912	0.10504	Myosin tail (1);	0.301230	0.30830	N	0.008789	T	0.72011	0.3408	L	0.42686	1.345	0.19575	N	0.999966	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.001;0.001	B;B;B;B;B	0.27170	0.013;0.007;0.007;0.013;0.077	T	0.57837	-0.7742	10	0.33940	T	0.23	.	5.0084	0.14300	0.4611:0.2712:0.2677:0.0	.	1266;1259;1266;1259;1266	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	1259;1259;1266;1266;1266	ENSP00000300036:A1259V;ENSP00000345136:A1259V;ENSP00000379616:A1266V;ENSP00000407821:A1266V	ENSP00000300036:A1259V	A	-	2	0	MYH11	15728288	0.000000	0.05858	0.994000	0.49952	0.960000	0.62799	-0.233000	0.09041	-0.114000	0.11936	-0.345000	0.07892	GCG		0.637	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		59	86	0	0	0	1	0	59	86				
ACCS	84680	broad.mit.edu	37	11	44097102	44097102	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44097102G>A	ENST00000263776.8	+	6	950	c.516G>A	c.(514-516)tcG>tcA	p.S172S	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.A149T	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	172					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGGTGCCTCGCTCTTCTCTG	0.607																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000432284.2																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(445-447)Gct>Act		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							272.0	187.0	216.0					11																	44097102		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44097102G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.516G>A	11.37:g.44097102G>A						ACCS_ENST00000263776.8_Silent_p.S172S|ACCS_ENST00000533208.1_3'UTR	p.A149T			Q96QU6	1A1L1_HUMAN			5	822	+			347					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.445G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270282	0.80469	.	.	ENSG00000110455	ENST00000432284	T	0.42900	0.96	4.72	-5.46	0.02608	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.22541	N	0.999009	B	0.33022	0.394	B	0.22880	0.042	T	0.13308	-1.0514	8	0.87932	D	0	-13.9251	8.2768	0.31877	0.0:0.4254:0.1186:0.456	.	149	B4E219	.	T	149	ENSP00000391775:A149T	ENSP00000391775:A149T	A	+	1	0	ACCS	44053678	0.166000	0.22962	0.824000	0.32777	0.927000	0.56198	-0.433000	0.06948	-1.207000	0.02637	-0.219000	0.12488	GCT		0.607	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		22	20	0	0	0	1	0	22	20				
SIK2	23235	broad.mit.edu	37	11	111571640	111571640	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111571640G>A	ENST00000304987.3	+	5	682	c.509G>A	c.(508-510)gGt>gAt	p.G170D		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTTAAAAGTGGTGAACTGCTG	0.418																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(508-510)gGt>gAt		salt-inducible kinase 2							74.0	76.0	76.0					11																	111571640		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111571640G>A	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.509G>A	11.37:g.111571640G>A	ENSP00000305976:p.Gly170Asp						p.G170D	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			5	682	+			170			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.509G>A	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516381	0.85495	.	.	ENSG00000170145	ENST00000304987	T	0.64438	-0.1	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.37750	1.13	0.80722	D	1	P	0.41131	0.739	P	0.44561	0.453	T	0.64753	-0.6333	10	0.62326	D	0.03	.	18.5673	0.91121	0.0:0.0:1.0:0.0	.	170	Q9H0K1	SIK2_HUMAN	D	170	ENSP00000305976:G170D	ENSP00000305976:G170D	G	+	2	0	SIK2	111076850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.614000	0.98353	2.786000	0.95864	0.603000	0.83216	GGT		0.418	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		23	38	0	0	0	1	0	23	38				
CUX2	23316	broad.mit.edu	37	12	111786040	111786040	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111786040C>T	ENST00000261726.6	+	22	4526	c.4372C>T	c.(4372-4374)Cgg>Tgg	p.R1458W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1458					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTTGCAGCGGCGGCATGAGAA	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4372-4374)Cgg>Tgg		cut-like homeobox 2							87.0	95.0	92.0					12																	111786040		2000	4158	6158	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111786040C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4372C>T	12.37:g.111786040C>T	ENSP00000261726:p.Arg1458Trp						p.R1458W	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4526	+			1458					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4372C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293792	0.80914	.	.	ENSG00000111249	ENST00000261726	T	0.72394	-0.65	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.82737	0.5102	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84286	0.0497	10	0.87932	D	0	-31.9504	14.0852	0.64951	0.1506:0.8494:0.0:0.0	.	1458	O14529	CUX2_HUMAN	W	1458	ENSP00000261726:R1458W	ENSP00000261726:R1458W	R	+	1	2	CUX2	110270423	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.055000	0.41345	2.624000	0.88883	0.655000	0.94253	CGG		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		38	46	0	0	0	1	0	38	46				
ARHGAP18	93663	broad.mit.edu	37	6	129899715	129899715	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:129899715C>A	ENST00000368149.2	-	15	2023	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GATATAAATCCTTCATGTAAG	0.373																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1933-1935)aaG>aaT		Rho GTPase activating protein 18							161.0	146.0	151.0					6																	129899715		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129899715C>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1935G>T	6.37:g.129899715C>A	ENSP00000357131:p.Lys645Asn					ARHGAP18_ENST00000463225.1_5'UTR	p.K645N	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	15	2023	-			645						Missense_Mutation	SNP	ENST00000368149.2	37	c.1935G>T	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605792	0.66445	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	T	0.08102	3.13	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	M	0.70595	2.14	0.54753	D	0.999985	B	0.32101	0.356	B	0.32090	0.14	T	0.09400	-1.0676	9	.	.	.	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	645	Q8N392	RHG18_HUMAN	N	600;645	ENSP00000357131:K600N	.	K	-	3	2	ARHGAP18	129941408	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.981000	0.40628	2.861000	0.98227	0.650000	0.86243	AAG		0.373	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		38	54	1	0	4.17593e-13	1	4.53019e-13	38	54				
VWA8	23078	broad.mit.edu	37	13	42185773	42185773	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42185773C>T	ENST00000379310.3	-	39	4884	c.4816G>A	c.(4816-4818)Gca>Aca	p.A1606T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1606						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCGGGAACTGCATCTTTCTCA	0.572																																						ENST00000379310.3																			0											c.(4816-4818)Gca>Aca		von Willebrand factor A domain containing 8							121.0	123.0	122.0					13																	42185773		2015	4181	6196	SO:0001583	missense	23078							g.chr13:42185773C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4816G>A	13.37:g.42185773C>T	ENSP00000368612:p.Ala1606Thr						p.A1606T	NM_015058.1	NP_055873.1					39	4884	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4816G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107936	0.77096	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10960	2.82	5.93	5.08	0.68730	.	0.179009	0.48286	D	0.000190	T	0.18800	0.0451	M	0.74258	2.255	0.80722	D	1	D	0.53151	0.958	B	0.44108	0.441	T	0.04796	-1.0926	10	0.32370	T	0.25	.	16.7483	0.85478	0.0:0.8705:0.1295:0.0	.	1606	A3KMH1	K0564_HUMAN	T	1510;1606	ENSP00000368612:A1606T	ENSP00000251030:A1510T	A	-	1	0	KIAA0564	41083773	1.000000	0.71417	0.055000	0.19348	0.683000	0.39861	4.311000	0.59147	1.499000	0.48617	0.563000	0.77884	GCA		0.572	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		29	38	0	0	0	1	0	29	38				
SEC14L4	284904	broad.mit.edu	37	22	30888485	30888485	+	Missense_Mutation	SNP	G	G	A	rs199853485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30888485G>A	ENST00000255858.7	-	8	723	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R199C|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R214C|SEC14L4_ENST00000392772.2_Missense_Mutation_p.R160C	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	214	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ATCTTCCTGCGTGTCTCCTCA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		21162	0.0		0.001	False		,,,				2504	0.0					ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(478-480)Cgc>Tgc		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						142.0	96.0	112.0					22																	30888485		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30888485G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.640C>T	22.37:g.30888485G>A	ENSP00000255858:p.Arg214Cys					RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.R199C|SEC14L4_ENST00000381982.3_Missense_Mutation_p.R214C|SEC14L4_ENST00000255858.7_Missense_Mutation_p.R214C	p.R160C			Q9UDX3	S14L4_HUMAN			8	755	-			214			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.478C>T	CCDS13878.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.04	3.750554	0.69533	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.09	2.95	0.34219	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.126220	0.56097	D	0.000030	D	0.89935	0.6859	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.984;0.954;0.985	D	0.91460	0.5188	10	0.72032	D	0.01	-7.7704	13.3949	0.60846	0.0:0.0:0.7132:0.2868	.	160;199;214	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	C	214;199;160;214	ENSP00000255858:R214C;ENSP00000440848:R199C;ENSP00000376525:R160C;ENSP00000371412:R214C	ENSP00000255858:R214C	R	-	1	0	SEC14L4	29218485	0.129000	0.22400	0.486000	0.27416	0.979000	0.70002	2.058000	0.41374	0.635000	0.30488	0.591000	0.81541	CGC		0.527	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		18	19	0	0	0	1	0	18	19				
LYL1	4066	broad.mit.edu	37	19	13211556	13211556	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13211556G>A	ENST00000264824.4	-	3	702	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	114					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|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)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			CTGGCCCAATGTAGACACTGT	0.602			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		0				cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.(340-342)taC>taT		lymphoblastic leukemia derived sequence 1							149.0	134.0	139.0					19																	13211556		2203	4300	6503	SO:0001819	synonymous_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211556G>A		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.342C>T	19.37:g.13211556G>A							p.Y114Y	NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		3	702	-			114					O76102	Silent	SNP	ENST00000264824.4	37	c.342C>T	CCDS12292.1																																																																																				0.602	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		30	26	0	0	0	1	0	30	26				
DUOX1	53905	broad.mit.edu	37	15	45427310	45427310	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45427310G>A	ENST00000321429.4	+	6	723	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DUOX1_ENST00000389037.3_Missense_Mutation_p.V106M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	106	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.V106L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGCTATCACGTGCTTTCAGA	0.622																																						ENST00000321429.4																			1	Substitution - Missense(1)	p.V106L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(316-318)Gtg>Atg		dual oxidase 1							50.0	50.0	50.0					15																	45427310		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45427310G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.316G>A	15.37:g.45427310G>A	ENSP00000317997:p.Val106Met					DUOX1_ENST00000389037.3_Missense_Mutation_p.V106M	p.V106M	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	6	723	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	106			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.316G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685055	0.47991	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.69561	-0.41;-0.41	3.95	-0.448	0.12230	.	0.284382	0.32819	N	0.005614	T	0.59500	0.2198	L	0.60957	1.885	0.48341	D	0.999631	P	0.47191	0.891	B	0.43194	0.411	T	0.58730	-0.7585	10	0.87932	D	0	-8.2452	8.7039	0.34343	0.0:0.1337:0.4548:0.4116	.	106	Q9NRD9	DUOX1_HUMAN	M	106	ENSP00000317997:V106M;ENSP00000373689:V106M	ENSP00000317997:V106M	V	+	1	0	DUOX1	43214602	1.000000	0.71417	0.971000	0.41717	0.241000	0.25554	2.683000	0.46943	-0.210000	0.10140	-1.532000	0.00920	GTG		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	24	0	0	0	1	0	11	24				
CTNNAL1	8727	broad.mit.edu	37	9	111754918	111754918	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111754918T>C	ENST00000325551.4	-	3	599	c.513A>G	c.(511-513)agA>agG	p.R171R	CTNNAL1_ENST00000325580.6_Silent_p.R171R|RNA5-8SP3_ENST00000364357.1_RNA|CTNNAL1_ENST00000374593.4_Silent_p.R171R|CTNNAL1_ENST00000374595.4_Silent_p.R171R	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	171					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTACCTTATTTCTTGATGTTA	0.373																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(511-513)agA>agG		catenin (cadherin-associated protein), alpha-like 1							100.0	93.0	95.0					9																	111754918		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111754918T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.513A>G	9.37:g.111754918T>C						CTNNAL1_ENST00000325580.6_Silent_p.R171R|CTNNAL1_ENST00000374593.4_Silent_p.R171R|CTNNAL1_ENST00000325551.4_Silent_p.R171R	p.R171R			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	3	592	-			171					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.513A>G	CCDS6775.1																																																																																				0.373	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	35	0	0	0	1	0	3	35				
MICAL3	57553	broad.mit.edu	37	22	18300494	18300494	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18300494G>A	ENST00000441493.2	-	26	5285	c.4933C>T	c.(4933-4935)Cgc>Tgc	p.R1645C	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1645					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCAGGCCGGCGCTCCTTGCCC	0.711																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4933-4935)Cgc>Tgc		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300494G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4933C>T	22.37:g.18300494G>A	ENSP00000416015:p.Arg1645Cys						p.R1645C	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	5285	-		all_epithelial(15;0.198)	1645					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4933C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	5.606	0.296474	0.10622	.	.	ENSG00000093100	ENST00000441493	T	0.62498	0.02	4.65	1.25	0.21368	.	2.091240	0.02041	N	0.049305	T	0.38799	0.1054	N	0.08118	0	0.09310	N	1	P	0.35774	0.519	B	0.31547	0.132	T	0.34054	-0.9844	10	0.54805	T	0.06	.	1.7571	0.02984	0.181:0.2996:0.3657:0.1537	.	1645	Q7RTP6	MICA3_HUMAN	C	1645	ENSP00000416015:R1645C	ENSP00000416015:R1645C	R	-	1	0	XXbac-B461K10.4	16680494	0.000000	0.05858	0.001000	0.08648	0.294000	0.27393	0.514000	0.22786	0.052000	0.16007	0.561000	0.74099	CGC		0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	14	0	0	0	1	0	8	14				
SOX6	55553	broad.mit.edu	37	11	16010577	16010577	+	Silent	SNP	G	G	A	rs375479510		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:16010577G>A	ENST00000352083.6	-	14	2009	c.1932C>T	c.(1930-1932)ccC>ccT	p.P644P	SOX6_ENST00000528252.1_Silent_p.P617P|SOX6_ENST00000316399.6_Silent_p.P624P|SOX6_ENST00000396356.3_Silent_p.P624P|SOX6_ENST00000527619.1_Silent_p.P620P|SOX6_ENST00000528429.1_Silent_p.P644P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	644					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P624P(1)|p.P620P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TATGCATGTCGGGGAAGGCCT	0.522											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352083.6																			2	Substitution - coding silent(2)	p.P624P(1)|p.P620P(1)	lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1930-1932)ccC>ccT		SRY (sex determining region Y)-box 6		G	,,,	0,4400		0,0,2200	185.0	171.0	176.0		1851,1971,1860,1872	-9.7	0.5	11		176	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,,,	617/802,657/842,620/805,624/809	16010577	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16010577G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1932C>T	11.37:g.16010577G>A			OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	707	SOX6_ENST00000396356.3_Silent_p.P624P|SOX6_ENST00000316399.6_Silent_p.P624P|SOX6_ENST00000527619.1_Silent_p.P620P|SOX6_ENST00000528252.1_Silent_p.P617P|SOX6_ENST00000528429.1_Silent_p.P644P	p.P644P			P35712	SOX6_HUMAN			14	2009	-			644					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1932C>T																																																																																					0.522	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		68	90	0	0	0	1	0	68	90				
IDI2	91734	broad.mit.edu	37	10	1068717	1068717	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1068717T>C	ENST00000277517.1	-	3	207		c.e3-2		IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2						cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GCAGCAGCCCTGCAAAGGTAA	0.493																																						ENST00000277517.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.e3-2		isopentenyl-diphosphate delta isomerase 2							99.0	80.0	87.0					10																	1068717		2203	4300	6503	SO:0001630	splice_region_variant	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1068717T>C	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.143-2A>G	10.37:g.1068717T>C						IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	3	207	-		Colorectal(49;0.235)							Splice_Site	SNP	ENST00000277517.1	37		CCDS7055.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595474	0.28445	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.02	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4305	0.21794	0.0:0.1301:0.0:0.8699	.	.	.	.	.	-1	.	.	.	-	.	.	IDI2	1058717	1.000000	0.71417	0.167000	0.22817	0.183000	0.23260	4.259000	0.58828	0.383000	0.24910	0.113000	0.15668	.		0.493	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	Intron	11	29	0	0	0	1	0	11	29				
ELFN2	114794	broad.mit.edu	37	22	37771287	37771287	+	Silent	SNP	G	G	A	rs550178745		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37771287G>A	ENST00000402918.2	-	3	1073	c.288C>T	c.(286-288)gaC>gaT	p.D96D	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	96					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGAAGGCACCGTCCTCGATGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18321	0.0		0.0	False		,,,				2504	0.0					ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(286-288)gaC>gaT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							153.0	148.0	150.0					22																	37771287		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37771287G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.288C>T	22.37:g.37771287G>A						ELFN2_ENST00000349653.3_Silent_p.D96D|RP1-63G5.5_ENST00000430883.1_RNA	p.D96D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1073	-	Melanoma(58;0.0574)		96					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.288C>T	CCDS33642.1																																																																																				0.602	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		14	27	0	0	0	1	0	14	27				
TRIM27	5987	broad.mit.edu	37	6	28891196	28891196	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28891196C>T	ENST00000377199.3	-	1	570	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	TRIM27_ENST00000498117.1_5'Flank|TRIM27_ENST00000377194.3_Missense_Mutation_p.A72T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	72					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GTCACGTTGGCCAGGTGCCGG	0.706			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(214-216)Gcc>Acc		tripartite motif containing 27							27.0	26.0	26.0					6																	28891196		2198	4299	6497	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28891196C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.214G>A	6.37:g.28891196C>T	ENSP00000366404:p.Ala72Thr					TRIM27_ENST00000377194.3_Missense_Mutation_p.A72T	p.A72T	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			1	570	-			72					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.214G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400510	0.62177	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	D;D	0.84589	-1.87;-1.87	4.48	3.61	0.41365	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.46442	D	0.000300	T	0.70789	0.3264	M	0.73372	2.23	0.32814	D	0.501775	B;P;B	0.46020	0.01;0.871;0.02	B;B;B	0.31751	0.002;0.135;0.002	T	0.73088	-0.4093	10	0.72032	D	0.01	.	10.8404	0.46710	0.0:0.9028:0.0:0.0972	.	139;72;72	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	T	72	ENSP00000366404:A72T;ENSP00000366399:A72T	ENSP00000366399:A72T	A	-	1	0	TRIM27	28999175	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.944000	0.40263	1.190000	0.43042	0.555000	0.69702	GCC		0.706	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		8	14	0	0	0	1	0	8	14				
MYO18A	399687	broad.mit.edu	37	17	27414082	27414082	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27414082G>A	ENST00000527372.1	-	38	5764	c.5584C>T	c.(5584-5586)Cgc>Tgc	p.R1862C	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1825C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1862C|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1862C|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1862					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGCAATGCGCTGATCCCGC	0.597																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(5584-5586)Cgc>Tgc		myosin XVIIIA							89.0	96.0	93.0					17																	27414082		2075	4191	6266	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27414082G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5584C>T	17.37:g.27414082G>A	ENSP00000437073:p.Arg1862Cys					TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1862C|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1825C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1862C	p.R1862C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		38	5764	-			1862					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5584C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461391	0.96240	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.88586	-2.35;-2.4;-2.35;-2.35	5.18	5.18	0.71444	.	0.153445	0.64402	D	0.000012	D	0.91670	0.7367	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	P;P;P;P	0.62014	0.897;0.897;0.897;0.792	D	0.91090	0.4906	10	0.48119	T	0.1	.	19.2785	0.94042	0.0:0.0:1.0:0.0	.	1465;1825;1862;1862	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	C	1862;1825;1825;1862;1862;758;758;1465;143	ENSP00000346291:R1862C;ENSP00000435932:R1825C;ENSP00000434228:R1862C;ENSP00000437073:R1862C	ENSP00000346291:R1862C	R	-	1	0	MYO18A	24438208	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.995000	0.57001	2.873000	0.98535	0.561000	0.74099	CGC		0.597	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		4	86	0	0	0	1	0	4	86				
ZFR	51663	broad.mit.edu	37	5	32397417	32397417	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32397417G>A	ENST00000265069.8	-	10	1843	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	MIR579_ENST00000385221.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	581					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATGGAACCGAATTACTTTT	0.343																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1741-1743)Cgg>Tgg		zinc finger RNA binding protein							130.0	127.0	128.0					5																	32397417		2203	4299	6502	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32397417G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1741C>T	5.37:g.32397417G>A	ENSP00000265069:p.Arg581Trp						p.R581W	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	10	1843	-			581					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1741C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517495	0.85495	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.47177	0.85	5.65	2.74	0.32292	Zinc finger, U1-type (1);	0.050005	0.85682	D	0.000000	T	0.61652	0.2364	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	P	0.57324	0.818	T	0.65969	-0.6039	10	0.87932	D	0	.	14.5474	0.68041	0.0:0.0:0.5919:0.4081	.	581	Q96KR1	ZFR_HUMAN	W	581;559	ENSP00000265069:R581W	ENSP00000265069:R581W	R	-	1	2	ZFR	32433174	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	5.479000	0.66813	0.256000	0.21614	0.591000	0.81541	CGG		0.343	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			30	49	0	0	0	1	0	30	49				
AMBP	259	broad.mit.edu	37	9	116835296	116835296	+	Silent	SNP	C	C	T	rs374279851		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116835296C>T	ENST00000265132.3	-	5	727	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	155					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCCTCAGCTGCGGCGCCCGCC	0.572																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(463-465)ccG>ccA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	C		0,4406		0,0,2203	56.0	49.0	51.0		465	-9.6	0.0	9		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AMBP	NM_001633.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		155/353	116835296	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116835296C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.465G>A	9.37:g.116835296C>T							p.P155P	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			5	727	-			155					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.465G>A	CCDS6800.1																																																																																				0.572	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		7	8	0	0	0	1	0	7	8				
CEP85	64793	broad.mit.edu	37	1	26603704	26603704	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26603704C>T	ENST00000252992.4	+	14	2340	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	CEP85_ENST00000469609.1_3'UTR|SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000451429.2_Missense_Mutation_p.R686C	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	737						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAACAGCTGCGTCGTGACAT	0.502																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(2209-2211)Cgt>Tgt		centrosomal protein 85kDa							174.0	163.0	167.0					1																	26603704		2203	4300	6503	SO:0001583	missense	64793					centrosome|nucleolus|spindle pole		g.chr1:26603704C>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2209C>T	1.37:g.26603704C>T	ENSP00000252992:p.Arg737Cys					CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.R686C	p.R737C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			14	2340	+			737					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	ENST00000252992.4	37	c.2209C>T	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612309	0.87258	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.27256	1.68;1.91	5.77	5.77	0.91146	.	0.190681	0.56097	D	0.000032	T	0.46541	0.1398	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.996	D;P;P	0.64237	0.923;0.847;0.782	T	0.38650	-0.9651	10	0.87932	D	0	-9.1023	14.7938	0.69863	0.1442:0.8558:0.0:0.0	.	686;737;736	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	C	686;737	ENSP00000417002:R686C;ENSP00000252992:R737C	ENSP00000252992:R737C	R	+	1	0	CEP85	26476291	1.000000	0.71417	0.926000	0.36857	0.838000	0.47535	5.621000	0.67743	2.744000	0.94065	0.561000	0.74099	CGT		0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		42	63	0	0	0	1	0	42	63				
GALNT14	79623	broad.mit.edu	37	2	31168721	31168721	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31168721C>T	ENST00000349752.5	-	7	1309	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	GALNT14_ENST00000324589.5_Missense_Mutation_p.V229M|GALNT14_ENST00000356174.3_Missense_Mutation_p.V191M|GALNT14_ENST00000420311.2_Missense_Mutation_p.V189M|GALNT14_ENST00000406653.1_Missense_Mutation_p.V204M|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	224					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)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ACAGGGCACACCACCCGCGTG	0.582																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(670-672)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							93.0	75.0	81.0					2																	31168721		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31168721C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.670G>A	2.37:g.31168721C>T	ENSP00000288988:p.Val224Met					GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.V191M|GALNT14_ENST00000420311.2_Missense_Mutation_p.V189M|GALNT14_ENST00000324589.5_Missense_Mutation_p.V229M|GALNT14_ENST00000406653.1_Missense_Mutation_p.V204M	p.V224M	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			7	1309	-	Acute lymphoblastic leukemia(172;0.155)		224					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.670G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646013	0.87958	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.74	4.74	0.60224	Glycosyl transferase, family 2 (1);	0.064261	0.64402	D	0.000007	D	0.86117	0.5856	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.964;0.977;0.998;0.986	D	0.89943	0.4074	10	0.87932	D	0	.	17.693	0.88273	0.0:1.0:0.0:0.0	.	189;191;229;224;204	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	M	224;229;204;191;189;191	ENSP00000288988:V224M;ENSP00000314500:V229M;ENSP00000385435:V204M;ENSP00000348497:V191M;ENSP00000415514:V189M;ENSP00000406399:V191M	ENSP00000314500:V229M	V	-	1	0	GALNT14	31022225	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.233000	0.78125	2.348000	0.79779	0.455000	0.32223	GTG		0.582	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		5	43	0	0	0	1	0	5	43				
UFL1	23376	broad.mit.edu	37	6	96988479	96988479	+	Silent	SNP	C	C	T	rs571271097		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:96988479C>T	ENST00000369278.4	+	11	1293	c.1227C>T	c.(1225-1227)agC>agT	p.S409S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	409					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CTTTAGAAAGCGTTAGTACAA	0.299													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17357	0.0		0.0	False		,,,				2504	0.0					ENST00000369278.4																			0											c.(1225-1227)agC>agT		UFM1-specific ligase 1							64.0	65.0	65.0					6																	96988479		2203	4295	6498	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96988479C>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1227C>T	6.37:g.96988479C>T							p.S409S	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			11	1293	+			409					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.1227C>T	CCDS5034.1																																																																																				0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		12	22	0	0	0	1	0	12	22				
FHDC1	85462	broad.mit.edu	37	4	153864466	153864466	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153864466A>G	ENST00000511601.1	+	2	445	c.257A>G	c.(256-258)aAc>aGc	p.N86S	FHDC1_ENST00000260008.3_Missense_Mutation_p.N86S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	86									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACTCACATGAACGGCTACAGC	0.557																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(256-258)aAc>aGc		FH2 domain containing 1							64.0	72.0	70.0					4																	153864466		2203	4298	6501	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864466A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.257A>G	4.37:g.153864466A>G	ENSP00000427567:p.Asn86Ser					FHDC1_ENST00000260008.3_Missense_Mutation_p.N86S	p.N86S			Q9C0D6	FHDC1_HUMAN			2	445	+	all_hematologic(180;0.093)		86						Missense_Mutation	SNP	ENST00000511601.1	37	c.257A>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675320	0.29783	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.31510	1.49;1.49	5.32	5.32	0.75619	Actin-binding FH2 (1);	0.727653	0.12120	N	0.497708	T	0.33440	0.0863	M	0.71581	2.175	0.42398	D	0.992556	P	0.38788	0.647	B	0.32465	0.146	T	0.20140	-1.0284	10	0.22706	T	0.39	.	15.5868	0.76489	1.0:0.0:0.0:0.0	.	86	Q9C0D6	FHDC1_HUMAN	S	86	ENSP00000427567:N86S;ENSP00000260008:N86S	ENSP00000260008:N86S	N	+	2	0	FHDC1	154083916	0.969000	0.33509	0.092000	0.20876	0.633000	0.38033	4.112000	0.57845	2.146000	0.66826	0.460000	0.39030	AAC		0.557	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		22	40	0	0	0	1	0	22	40				
NRROS	375387	broad.mit.edu	37	3	196386840	196386840	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196386840G>T	ENST00000328557.4	+	3	529	c.326G>T	c.(325-327)aGc>aTc	p.S109I		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	109					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CACCTGCGCAGCCTGGTCCTG	0.667																																						ENST00000328557.4																			0											c.(325-327)aGc>aTc		negative regulator of reactive oxygen species							36.0	36.0	36.0					3																	196386840		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196386840G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.326G>T	3.37:g.196386840G>T	ENSP00000328625:p.Ser109Ile						p.S109I	NM_198565.1	NP_940967.1					3	529	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.326G>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304970	0.23736	.	.	ENSG00000174004	ENST00000328557	T	0.00966	5.49	6.07	3.23	0.37069	.	0.298226	0.41823	D	0.000807	T	0.01029	0.0034	L	0.42008	1.315	0.30468	N	0.773642	B	0.32653	0.379	B	0.37650	0.255	T	0.33420	-0.9869	10	0.35671	T	0.21	.	0.5171	0.00605	0.2439:0.2114:0.3276:0.217	.	109	Q86YC3	LRC33_HUMAN	I	109	ENSP00000328625:S109I	ENSP00000328625:S109I	S	+	2	0	LRRC33	197871237	0.214000	0.23563	1.000000	0.80357	0.514000	0.34195	0.011000	0.13264	0.880000	0.35969	0.655000	0.94253	AGC		0.667	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		8	9	1	0	1.06961e-07	1	1.12439e-07	8	9				
BMPR1A	657	broad.mit.edu	37	10	88677048	88677048	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88677048A>G	ENST00000372037.3	+	9	1370	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						ACAGAAATCTACCAAACTGTG	0.443			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(832-834)tAc>tGc		bone morphogenetic protein receptor, type IA							45.0	40.0	42.0					10																	88677048		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88677048A>G	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.833A>G	10.37:g.88677048A>G	ENSP00000361107:p.Tyr278Cys						p.Y278C	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			9	1370	+			278			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.833A>G	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639169	0.87760	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.65732	-0.17	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81829	-0.0753	10	0.87932	D	0	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	278	P36894	BMR1A_HUMAN	C	278	ENSP00000361107:Y278C	ENSP00000224764:Y278C	Y	+	2	0	BMPR1A	88667028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.289000	0.77006	0.482000	0.46254	TAC		0.443	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		5	19	0	0	0	1	0	5	19				
ARVCF	421	broad.mit.edu	37	22	19959484	19959484	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19959484G>T	ENST00000263207.3	-	18	2997	c.2706C>A	c.(2704-2706)tcC>tcA	p.S902S	ARVCF_ENST00000401994.1_Silent_p.S839S|ARVCF_ENST00000344269.3_Silent_p.S839S|ARVCF_ENST00000406522.1_Silent_p.S833S|ARVCF_ENST00000406259.1_Silent_p.S896S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	902					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGTCCACCGTGGAGTATCCGT	0.632																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2704-2706)tcC>tcA		armadillo repeat gene deleted in velocardiofacial syndrome							59.0	58.0	59.0					22																	19959484		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959484G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2706C>A	22.37:g.19959484G>T						ARVCF_ENST00000344269.3_Silent_p.S839S|ARVCF_ENST00000406522.1_Silent_p.S833S|ARVCF_ENST00000406259.1_Silent_p.S896S|ARVCF_ENST00000401994.1_Silent_p.S839S	p.S902S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			18	2997	-	Colorectal(54;0.0993)		902					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2706C>A	CCDS13771.1																																																																																				0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		9	19	1	0	2.80697e-09	1	2.97546e-09	9	19				
WDR12	55759	broad.mit.edu	37	2	203760881	203760881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203760881C>T	ENST00000261015.4	-	6	1265	c.516G>A	c.(514-516)tgG>tgA	p.W172*		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCTCTACATTCCACTCCCATA	0.393																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(514-516)tgG>tgA		WD repeat domain 12							104.0	95.0	98.0					2																	203760881		2203	4300	6503	SO:0001587	stop_gained	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203760881C>T	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.516G>A	2.37:g.203760881C>T	ENSP00000261015:p.Trp172*						p.W172*	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			6	1265	-			172			Sufficient for nucleolar localization.			Nonsense_Mutation	SNP	ENST00000261015.4	37	c.516G>A	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	43	10.084056	0.99332	.	.	ENSG00000138442	ENST00000261015	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.7511	20.3268	0.98702	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000261015:W172X	W	-	3	0	WDR12	203469126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.794000	0.96219	0.650000	0.86243	TGG		0.393	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		26	32	0	0	0	1	0	26	32				
B4GALT3	8703	broad.mit.edu	37	1	161141751	161141751	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161141751G>T	ENST00000319769.5	-	8	1259	c.1037C>A	c.(1036-1038)cCt>cAt	p.P346H	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P346H|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	346					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGGACCCCGAGGGTCAGTCCC	0.607																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(1036-1038)cCt>cAt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						62.0	69.0	67.0					1																	161141751		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161141751G>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.1037C>A	1.37:g.161141751G>T	ENSP00000320965:p.Pro346His					PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.P346H|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	p.P346H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1259	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		346					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.1037C>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718642	0.68844	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.52983	0.64;0.64	5.28	5.28	0.74379	.	0.050050	0.85682	D	0.000000	T	0.59018	0.2163	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.60974	-0.7156	10	0.87932	D	0	.	17.8577	0.88771	0.0:0.0:1.0:0.0	.	346	O60512	B4GT3_HUMAN	H	346;323;346;346	ENSP00000320965:P346H;ENSP00000356977:P346H	ENSP00000320965:P346H	P	-	2	0	B4GALT3	159408375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.746000	0.94184	0.655000	0.94253	CCT		0.607	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		24	29	1	0	1.96895e-08	1	2.07767e-08	24	29				
HS1BP3	64342	broad.mit.edu	37	2	20818848	20818848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20818848G>A	ENST00000304031.3	-	7	1103	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	360							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCTTCTGCTGCCCAGCC	0.617																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(1078-1080)Cag>Tag		HCLS1 binding protein 3							81.0	90.0	87.0					2																	20818848		2203	4300	6503	SO:0001587	stop_gained	64342				cell communication		phosphatidylinositol binding	g.chr2:20818848G>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1078C>T	2.37:g.20818848G>A	ENSP00000305193:p.Gln360*						p.Q360*	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			7	1103	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		360					B2RAW2|D6W529|Q86VC2|Q8N367	Nonsense_Mutation	SNP	ENST00000304031.3	37	c.1078C>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430467	0.83776	.	.	ENSG00000118960	ENST00000304031	.	.	.	5.25	3.44	0.39384	.	1.176820	0.06173	N	0.678084	.	.	.	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0135	8.4695	0.32977	0.1826:0.0:0.8174:0.0	.	.	.	.	X	360	.	ENSP00000305193:Q360X	Q	-	1	0	HS1BP3	20682329	0.000000	0.05858	0.002000	0.10522	0.754000	0.42855	0.295000	0.19065	0.607000	0.29982	0.655000	0.94253	CAG		0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		37	48	0	0	0	1	0	37	48				
SOX30	11063	broad.mit.edu	37	5	157078120	157078120	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157078120C>A	ENST00000265007.6	-	1	1308	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	SOX30_ENST00000311371.5_Splice_Site_p.G323C|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	323					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCTAATACCTGCATCTGAG	0.473																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.e1+1		SRY (sex determining region Y)-box 30							69.0	75.0	73.0					5																	157078120		2203	4299	6502	SO:0001630	splice_region_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078120C>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.967+1G>T	5.37:g.157078120C>A						SOX30_ENST00000311371.5_Splice_Site_p.G323_splice|SOX30_ENST00000519442.1_Intron	p.G323_splice	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1308	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	323					O94995|Q8IYX6	Splice_Site	SNP	ENST00000265007.6	37	c.967_splice	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348067	0.61183	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98105	-4.72;-4.4	5.18	5.18	0.71444	High mobility group, superfamily (1);	0.000000	0.56097	D	0.000036	D	0.96327	0.8802	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.915	D	0.95892	0.8908	9	.	.	.	.	16.9025	0.86117	0.0:1.0:0.0:0.0	.	323;323	O94993-2;O94993	.;SOX30_HUMAN	C	323	ENSP00000309343:G323C;ENSP00000265007:G323C	.	G	-	1	0	SOX30	157010698	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.357000	0.66058	2.420000	0.82092	0.460000	0.39030	GGC		0.473	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	Missense_Mutation	25	34	1	0	1.64293e-13	1	1.78609e-13	25	34				
NR2F6	2063	broad.mit.edu	37	19	17343236	17343236	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17343236C>T	ENST00000291442.3	-	4	1859	c.1140G>A	c.(1138-1140)acG>acA	p.T380T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	380	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TCTCAATGGGCGTCTTCCCCA	0.667																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(1138-1140)acG>acA		nuclear receptor subfamily 2, group F, member 6							69.0	62.0	64.0					19																	17343236		2203	4300	6503	SO:0001819	synonymous_variant	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343236C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1140G>A	19.37:g.17343236C>T							p.T380T	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1859	-			380			Important for dimerization (By similarity).|Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	c.1140G>A	CCDS12352.1																																																																																				0.667	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			5	32	0	0	0	1	0	5	32				
KIAA1109	84162	broad.mit.edu	37	4	123246434	123246434	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123246434G>A	ENST00000264501.4	+	65	11327	c.10954G>A	c.(10954-10956)Gca>Aca	p.A3652T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3652T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3652T			Q2LD37	K1109_HUMAN	KIAA1109	3652					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTGGATGCAGCATCTCCTGG	0.318																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(10954-10956)Gca>Aca		KIAA1109							76.0	78.0	77.0					4																	123246434		1813	4073	5886	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123246434G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10954G>A	4.37:g.123246434G>A	ENSP00000264501:p.Ala3652Thr					KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3652T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3652T	p.A3652T			Q2LD37	K1109_HUMAN			65	11327	+			3652					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10954G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.158988|5.158988	0.94686|0.94686	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.39056|.	2.08;2.08;1.6;1.1|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.142109|.	0.45867|.	D|.	0.000326|.	T|T	0.69278|0.69278	0.3093|0.3093	L|L	0.44542|0.44542	1.39|1.39	0.51767|0.51767	D|D	0.999937|0.999937	P;B;P|.	0.42456|.	0.573;0.137;0.78|.	B;B;B|.	0.35039|.	0.168;0.109;0.194|.	T|T	0.62760|0.62760	-0.6786|-0.6786	10|5	0.10902|.	T|.	0.67|.	.|.	20.3311|20.3311	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3651;3652;3652|.	Q2LD37-4;Q2LD37-6;Q2LD37|.	.;.;K1109_HUMAN|.	T|N	3652;3652;3652;335|1609	ENSP00000264501:A3652T;ENSP00000373390:A3652T;ENSP00000389925:A3652T;ENSP00000410874:A335T|.	ENSP00000264501:A3652T|.	A|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123465884|123465884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.293000|3.293000	0.51779|0.51779	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.318	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	69	0	0	0	1	0	14	69				
TMEM217	221468	broad.mit.edu	37	6	37186425	37186425	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:37186425G>A	ENST00000336655.2	-	2	421	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	TMEM217_ENST00000356757.2_Missense_Mutation_p.R128C|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	128						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						CCAAACCAGCGCATGATTCTG	0.423																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(382-384)Cgc>Tgc		transmembrane protein 217							156.0	153.0	154.0					6																	37186425		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186425G>A		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.382C>T	6.37:g.37186425G>A	ENSP00000338164:p.Arg128Cys					TMEM217_ENST00000356757.2_Missense_Mutation_p.R128C|TMEM217_ENST00000497775.1_Intron	p.R128C	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	421	-			128					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.382C>T	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127379	0.56721	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.54	3.65	0.41850	.	.	.	.	.	T	0.59689	0.2212	L	0.50333	1.59	0.46149	D	0.998899	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.64584	-0.6373	8	0.72032	D	0.01	-16.9321	10.6495	0.45640	0.0:0.1943:0.8057:0.0	.	128;128	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	C	128	.	ENSP00000338164:R128C	R	-	1	0	TMEM217	37294403	0.998000	0.40836	0.991000	0.47740	0.661000	0.39034	1.844000	0.39269	1.230000	0.43646	0.609000	0.83330	CGC		0.423	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		5	112	0	0	0	1	0	5	112				
STOX2	56977	broad.mit.edu	37	4	184931470	184931470	+	Silent	SNP	G	G	A	rs372739830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:184931470G>A	ENST00000308497.4	+	3	2914	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S	STOX2_ENST00000438269.1_Silent_p.S493S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GATCCAGGTCGATGGATAACT	0.572																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(1477-1479)tcG>tcA		storkhead box 2		G		0,3856		0,0,1928	37.0	44.0	42.0		1479	-11.3	0.0	4		42	1,8299		0,1,4149	no	coding-synonymous	STOX2	NM_020225.1		0,1,6077	AA,AG,GG		0.012,0.0,0.0082		493/927	184931470	1,12155	1928	4150	6078	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184931470G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1479G>A	4.37:g.184931470G>A						STOX2_ENST00000438269.1_Silent_p.S493S	p.S493S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2914	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	493					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.1479G>A	CCDS47167.1																																																																																				0.572	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		7	2	0	0	0	1	0	7	2				
NEUROD1	4760	broad.mit.edu	37	2	182542961	182542961	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182542961C>T	ENST00000295108.3	-	2	1084	c.627G>A	c.(625-627)acG>acA	p.T209T	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	209					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGCGCTGGCCGTCGGCAGGT	0.612																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(625-627)acG>acA		neuronal differentiation 1							54.0	64.0	61.0					2																	182542961		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542961C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.627G>A	2.37:g.182542961C>T						CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.T209T	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1084	-			209					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.627G>A	CCDS2283.1																																																																																				0.612	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		17	33	0	0	0	1	0	17	33				
PHLPP2	23035	broad.mit.edu	37	16	71683234	71683234	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71683234C>T	ENST00000568954.1	-	19	3909	c.3531G>A	c.(3529-3531)agG>agA	p.R1177R	PHLPP2_ENST00000356272.3_Silent_p.R1177R|PHLPP2_ENST00000567016.1_Silent_p.R1212R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000393524.2_Silent_p.R1110R			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCTCCAGATCCCTCCCCCTGC	0.542																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3328-3330)agG>agA		PH domain and leucine rich repeat protein phosphatase 2							74.0	70.0	72.0					16																	71683234		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683234C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3531G>A	16.37:g.71683234C>T						PHLPP2_ENST00000356272.3_Silent_p.R1177R|PHLPP2_ENST00000568954.1_Silent_p.R1177R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Silent_p.R1212R	p.R1110R			Q6ZVD8	PHLP2_HUMAN			17	4063	-			1177					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3330G>A	CCDS32479.1																																																																																				0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		31	40	0	0	0	1	0	31	40				
TMEM215	401498	broad.mit.edu	37	9	32784344	32784344	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32784344G>A	ENST00000342743.5	+	2	528	c.163G>A	c.(163-165)Gca>Aca	p.A55T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	55						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCAGGCATCGCAGCCATTGC	0.582																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(163-165)Gca>Aca		transmembrane protein 215							71.0	64.0	66.0					9																	32784344		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784344G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.163G>A	9.37:g.32784344G>A	ENSP00000345468:p.Ala55Thr						p.A55T	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	528	+			55					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.163G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852683	0.51270	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.63046	0.2478	L	0.27053	0.805	0.47065	D	0.999301	D	0.76494	0.999	D	0.63381	0.914	T	0.67914	-0.5547	9	0.87932	D	0	-10.1634	15.8897	0.79286	0.0:0.0:1.0:0.0	.	55	Q68D42	TM215_HUMAN	T	55	.	ENSP00000345468:A55T	A	+	1	0	TMEM215	32774344	1.000000	0.71417	0.270000	0.24601	0.947000	0.59692	7.480000	0.81109	2.344000	0.79699	0.462000	0.41574	GCA		0.582	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		14	28	0	0	0	1	0	14	28				
SFTPB	6439	broad.mit.edu	37	2	85890791	85890791	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85890791G>A	ENST00000519937.2	-	7	871	c.852C>T	c.(850-852)ggC>ggT	p.G284G	SFTPB_ENST00000409383.1_Silent_p.G296G|SFTPB_ENST00000342375.3_Silent_p.G284G|SFTPB_ENST00000393822.3_Silent_p.G296G			P07988	PSPB_HUMAN	surfactant protein B	284					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCTCACTTGGGCCAGCGCTGT	0.652																																						ENST00000342375.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(850-852)ggC>ggT		surfactant protein B							24.0	27.0	26.0					2																	85890791		2199	4298	6497	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890791G>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.852C>T	2.37:g.85890791G>A						SFTPB_ENST00000409383.1_Silent_p.G296G|SFTPB_ENST00000519937.2_Silent_p.G284G|SFTPB_ENST00000393822.3_Silent_p.G296G	p.G284G	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN			8	987	-			284					Q96R04	Silent	SNP	ENST00000519937.2	37	c.852C>T		.	.	.	.	.	.	.	.	.	.	G	4.754	0.140262	0.09083	.	.	ENSG00000168878	ENST00000428225	.	.	.	5.24	-0.0582	0.13798	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-2.3716	4.4819	0.11771	0.3799:0.1622:0.458:0.0	.	.	.	.	S	281	.	.	P	-	1	0	SFTPB	85744302	0.003000	0.15002	0.077000	0.20336	0.037000	0.13140	0.834000	0.27518	0.156000	0.19299	-0.367000	0.07326	CCC		0.652	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		7	4	0	0	0	1	0	7	4				
MAP3K1	4214	broad.mit.edu	37	5	56171129	56171129	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56171129G>A	ENST00000399503.3	+	10	1957	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	653					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTGTACGTTGCTGCTTTAGT	0.423																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1957-1959)Gct>Act		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							71.0	76.0	74.0					5																	56171129		2063	4218	6281	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56171129G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1957G>A	5.37:g.56171129G>A	ENSP00000382423:p.Ala653Thr						p.A653T	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	10	1957	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	653						Missense_Mutation	SNP	ENST00000399503.3	37	c.1957G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644546	0.67358	.	.	ENSG00000095015	ENST00000399503	T	0.67865	-0.29	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.72030	-0.4413	10	0.31617	T	0.26	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	653	Q13233	M3K1_HUMAN	T	653	ENSP00000382423:A653T	ENSP00000382423:A653T	A	+	1	0	MAP3K1	56206886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.441000	0.90313	2.736000	0.93811	0.655000	0.94253	GCT		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		8	32	0	0	0	1	0	8	32				
POLR3A	11128	broad.mit.edu	37	10	79739952	79739952	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79739952G>A	ENST00000372371.3	-	30	4108	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1324					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGGTCAGCCGTCTTCTCAAA	0.502																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3970-3972)aCg>aTg		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							167.0	124.0	139.0					10																	79739952		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79739952G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3971C>T	10.37:g.79739952G>A	ENSP00000361446:p.Thr1324Met						p.T1324M	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		30	4108	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1324					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3971C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855137	0.91355	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.80214	-1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93383	0.6745	9	.	.	.	-22.3948	19.1144	0.93332	0.0:0.0:1.0:0.0	.	1324	O14802	RPC1_HUMAN	M	140;1324;1303	ENSP00000361446:T1324M	.	T	-	2	0	POLR3A	79409958	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	8.928000	0.92853	2.763000	0.94921	0.655000	0.94253	ACG		0.502	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		20	23	0	0	0	1	0	20	23				
DDHD1	80821	broad.mit.edu	37	14	53560099	53560099	+	Missense_Mutation	SNP	A	A	C	rs573580355		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53560099A>C	ENST00000323669.5	-	3	1075	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R	DDHD1_ENST00000357758.3_Missense_Mutation_p.L359R|DDHD1_ENST00000395606.1_Missense_Mutation_p.L366R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	359					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATCACTATAAAGATATACTTC	0.338													A|||	1	0.000199681	0.0	0.0	5008	,	,		15322	0.0		0.0	False		,,,				2504	0.001					ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1075-1077)cTt>cGt		DDHD domain containing 1							128.0	115.0	120.0					14																	53560099		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53560099A>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1076T>G	14.37:g.53560099A>C	ENSP00000327104:p.Leu359Arg					DDHD1_ENST00000323669.5_Missense_Mutation_p.L359R|DDHD1_ENST00000395606.1_Missense_Mutation_p.L366R	p.L359R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			3	1259	-	Breast(41;0.037)		359					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1076T>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460090	0.84317	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.965;0.999;0.988	D	0.84232	0.0467	9	0.62326	D	0.03	-13.5899	15.7197	0.77697	1.0:0.0:0.0:0.0	.	366;359;359	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	359;366;359;230;73	.	ENSP00000327104:L359R	L	-	2	0	DDHD1	52629849	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.112000	0.64535	0.254000	0.18369	CTT		0.338	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			42	55	0	0	0	1	0	42	55				
CFH	3075	broad.mit.edu	37	1	196659286	196659286	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196659286C>T	ENST00000359637.2	+	8	1123	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	CFH_ENST00000367429.4_Missense_Mutation_p.P418L|CFH_ENST00000439155.2_Missense_Mutation_p.P418L			P08603	CFAH_HUMAN	complement factor H	418	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCCTGCCATCCTGGCTACGCT	0.418																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1252-1254)cCt>cTt		complement factor H							100.0	86.0	91.0					1																	196659286		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659286C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1061C>T	1.37:g.196659286C>T	ENSP00000352658:p.Pro354Leu					CFH_ENST00000439155.2_Missense_Mutation_p.P418L|CFH_ENST00000359637.2_Missense_Mutation_p.P354L	p.P418L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			9	1493	+			418			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1253C>T		.	.	.	.	.	.	.	.	.	.	C	11.88	1.769605	0.31320	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66099	-0.19;-0.19;-0.19	4.69	-5.77	0.02369	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65852	0.2731	M	0.77103	2.36	0.09310	N	1	B;P;B;B	0.37276	0.39;0.589;0.125;0.08	P;B;B;B	0.46320	0.512;0.4;0.071;0.112	T	0.65623	-0.6123	9	0.48119	T	0.1	.	10.7224	0.46048	0.3304:0.1778:0.4918:0.0	.	354;418;418;418	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	L	418;418;418;354	ENSP00000356399:P418L;ENSP00000402656:P418L;ENSP00000352658:P354L	ENSP00000352658:P354L	P	+	2	0	CFH	194925909	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.420000	0.00477	-1.103000	0.03019	0.655000	0.94253	CCT		0.418	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		14	29	0	0	0	1	0	14	29				
PARD3	56288	broad.mit.edu	37	10	34671822	34671822	+	Missense_Mutation	SNP	G	G	A	rs201536019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:34671822G>A	ENST00000374789.3	-	9	1370	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	PARD3_ENST00000545260.1_Missense_Mutation_p.R305C|PARD3_ENST00000374794.3_Missense_Mutation_p.R305C|PARD3_ENST00000340077.5_Missense_Mutation_p.R349C|PARD3_ENST00000350537.4_Missense_Mutation_p.R349C|PARD3_ENST00000346874.4_Missense_Mutation_p.R349C|PARD3_ENST00000374790.3_Missense_Mutation_p.R305C|PARD3_ENST00000374773.1_Missense_Mutation_p.R349C|PARD3_ENST00000374788.3_Missense_Mutation_p.R349C|PARD3_ENST00000545693.1_Missense_Mutation_p.R349C|PARD3_ENST00000544292.1_Missense_Mutation_p.R79C|PARD3_ENST00000374776.1_Missense_Mutation_p.R349C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	349	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATGGGTGTACGCATGGCTTGG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19568	0.001		0.0	False		,,,				2504	0.0					ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1045-1047)Cgt>Tgt		par-3 family cell polarity regulator							141.0	130.0	134.0					10																	34671822		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671822G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1045C>T	10.37:g.34671822G>A	ENSP00000363921:p.Arg349Cys					PARD3_ENST00000374794.3_Missense_Mutation_p.R305C|PARD3_ENST00000350537.4_Missense_Mutation_p.R349C|PARD3_ENST00000374788.3_Missense_Mutation_p.R349C|PARD3_ENST00000374773.1_Missense_Mutation_p.R349C|PARD3_ENST00000545693.1_Missense_Mutation_p.R349C|PARD3_ENST00000374776.1_Missense_Mutation_p.R349C|PARD3_ENST00000346874.4_Missense_Mutation_p.R349C|PARD3_ENST00000544292.1_Missense_Mutation_p.R79C|PARD3_ENST00000374790.3_Missense_Mutation_p.R305C|PARD3_ENST00000545260.1_Missense_Mutation_p.R305C|PARD3_ENST00000340077.5_Missense_Mutation_p.R349C	p.R349C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1370	-		Breast(68;0.0707)	349			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1045C>T	CCDS7178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.99	3.523730	0.64747	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	D;D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.73	4.83	0.62350	PDZ/DHR/GLGF (2);	0.046483	0.85682	N	0.000000	T	0.81616	0.4860	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;P;P;B;B;B	0.36412	0.119;0.009;0.03;0.087;0.012;0.178;0.087;0.015;0.006;0.052;0.552;0.496;0.052;0.11;0.061	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.37989	0.039;0.004;0.027;0.071;0.027;0.111;0.071;0.009;0.006;0.032;0.262;0.171;0.033;0.049;0.049	T	0.82760	-0.0298	10	0.72032	D	0.01	.	14.5253	0.67884	0.07:0.0:0.93:0.0	.	305;305;349;349;349;349;349;349;305;349;349;349;349;349;79	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	349;305;349;349;349;305;349;305;349;349;349;79	ENSP00000443147:R349C;ENSP00000440857:R305C;ENSP00000363921:R349C;ENSP00000363920:R349C;ENSP00000340591:R349C;ENSP00000363926:R305C;ENSP00000311986:R349C;ENSP00000363922:R305C;ENSP00000363908:R349C;ENSP00000341844:R349C;ENSP00000363905:R349C;ENSP00000444429:R79C	ENSP00000341844:R349C	R	-	1	0	PARD3	34711828	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.213000	0.65230	1.417000	0.47077	0.650000	0.86243	CGT		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		42	51	0	0	0	1	0	42	51				
TECTA	7007	broad.mit.edu	37	11	120983805	120983805	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120983805G>A	ENST00000392793.1	+	5	782	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	TECTA_ENST00000264037.2_Missense_Mutation_p.V171M			O75443	TECTA_HUMAN	tectorin alpha	171	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCCGTCCTAGTGTCCGATGG	0.582											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(511-513)Gtg>Atg		tectorin alpha							97.0	80.0	86.0					11																	120983805		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983805G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.511G>A	11.37:g.120983805G>A	ENSP00000376543:p.Val171Met		OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508	TECTA_ENST00000264037.2_Missense_Mutation_p.V171M	p.V171M			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	782	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	171			NIDO.			Missense_Mutation	SNP	ENST00000392793.1	37	c.511G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184438	0.57800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.73047	-0.71;-0.71	5.26	3.27	0.37495	Nidogen, extracellular domain (3);	0.214381	0.41001	N	0.000968	T	0.61502	0.2352	L	0.58510	1.815	0.35150	D	0.76971	B	0.12013	0.005	B	0.15870	0.014	T	0.66810	-0.5829	10	0.87932	D	0	.	4.4998	0.11858	0.4027:0.0:0.5972:0.0	.	171	O75443	TECTA_HUMAN	M	171	ENSP00000376543:V171M;ENSP00000264037:V171M	ENSP00000264037:V171M	V	+	1	0	TECTA	120489015	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.239000	0.72356	1.452000	0.47756	-0.145000	0.13849	GTG		0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	15	0	0	0	1	0	8	15				
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10432233C>T	ENST00000245503.5	-	27	3902	c.3518G>A	c.(3517-3519)cGg>cAg	p.R1173Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173Q|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					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.R1173L(2)		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						CTCAGCCTCCCGCTTCTTGTT	0.597																																						ENST00000245503.5																			2	Substitution - Missense(2)	p.R1173L(2)	lung(2)	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						c.(3517-3519)cGg>cAg		myosin, heavy chain 2, skeletal muscle, adult							71.0	79.0	76.0					17																	10432233		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432233C>T		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.3518G>A	17.37:g.10432233C>T	ENSP00000245503:p.Arg1173Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173Q	p.R1173Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3902	-			1173					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3518G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142654	0.94560	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85013	-1.93;-1.93	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.36519	U	0.002548	D	0.94006	0.8080	M	0.90977	3.165	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.93750	0.7058	10	0.42905	T	0.14	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	1173	Q9UKX2	MYH2_HUMAN	Q	1173	ENSP00000245503:R1173Q;ENSP00000380367:R1173Q	ENSP00000245503:R1173Q	R	-	2	0	MYH2	10372958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.350000	0.79385	2.707000	0.92482	0.655000	0.94253	CGG		0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		39	82	0	0	0	1	0	39	82				
C3orf52	79669	broad.mit.edu	37	3	111821806	111821806	+	Silent	SNP	C	C	T	rs199685620	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111821806C>T	ENST00000264848.5	+	3	449	c.390C>T	c.(388-390)acC>acT	p.T130T	C3orf52_ENST00000431717.2_Silent_p.T130T|C3orf52_ENST00000430855.1_Silent_p.T130T	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	130						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ACCTGCTCACCGAAAGGGTAA	0.353													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19995	0.0		0.0	False		,,,				2504	0.0					ENST00000264848.5																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(388-390)acC>acT		chromosome 3 open reading frame 52		C	,	7,3755		0,7,1874	72.0	67.0	69.0		390,390	-3.7	0.0	3		69	2,8216		0,2,4107	no	coding-synonymous,coding-synonymous	C3orf52	NM_001171747.1,NM_024616.2	,	0,9,5981	TT,TC,CC		0.0243,0.1861,0.0751	,	130/251,130/218	111821806	9,11971	1881	4109	5990	SO:0001819	synonymous_variant	79669					endoplasmic reticulum membrane|integral to membrane		g.chr3:111821806C>T	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.390C>T	3.37:g.111821806C>T						C3orf52_ENST00000430855.1_Silent_p.T130T|C3orf52_ENST00000431717.2_Silent_p.T130T	p.T130T	NM_024616.2	NP_078892.2	Q5BVD1	TTMP_HUMAN			3	449	+			130					B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Silent	SNP	ENST00000264848.5	37	c.390C>T	CCDS46887.1	.	.	.	.	.	.	.	.	.	.	C	0.062	-1.222704	0.01530	0.001861	2.43E-4	ENSG00000114529	ENST00000484828	.	.	.	5.66	-3.71	0.04424	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.1918	7.6986	0.28608	0.0:0.4445:0.1947:0.3608	.	.	.	.	X	121	.	.	R	+	1	2	C3orf52	113304496	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-1.136000	0.03222	-0.677000	0.05231	0.305000	0.20034	CGA		0.353	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		7	16	0	0	0	1	0	7	16				
MUCL1	118430	broad.mit.edu	37	12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T	rs201140321	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20684	0.0		0.0	False		,,,				2504	0.0					ENST00000308796.6																			0				breast(1)|kidney(1)|lung(1)	3						c.(64-66)cCg>cTg		mucin-like 1							86.0	78.0	81.0					12																	55248906		2203	4300	6503	SO:0001583	missense	118430					extracellular region|membrane		g.chr12:55248906C>T	AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"""small breast epithelial mucin"""	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.65C>T	12.37:g.55248906C>T	ENSP00000311364:p.Pro22Leu					MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L|MUCL1_ENST00000547990.1_3'UTR	p.P22L	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN			2	111	+			22					Q0VG95|Q32ZB5	Missense_Mutation	SNP	ENST00000308796.6	37	c.65C>T	CCDS8885.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	1.204	-0.631536	0.03584	.	.	ENSG00000172551	ENST00000546809;ENST00000308796	.	.	.	0.942	-0.0331	0.13902	.	0.700839	0.09764	U	0.758865	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.31040	0.305	B	0.15484	0.013	T	0.19745	-1.0296	8	0.87932	D	0	.	3.2937	0.06958	0.0:0.6876:0.0:0.3124	.	22	Q96DR8	MUCL1_HUMAN	L	17;22	.	ENSP00000311364:P22L	P	+	2	0	MUCL1	53535173	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.096000	0.01349	-0.038000	0.13624	0.561000	0.74099	CCG		0.418	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406062.1	NM_058173		10	23	0	0	0	1	0	10	23				
CHDH	55349	broad.mit.edu	37	3	53856558	53856558	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53856558G>A	ENST00000315251.6	-	4	1252	c.815C>T	c.(814-816)gCa>gTa	p.A272V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	272					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CACGCCCACTGCACGGGTGCC	0.642																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(814-816)gCa>gTa		choline dehydrogenase	Choline(DB00122)						125.0	100.0	108.0					3																	53856558		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53856558G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.815C>T	3.37:g.53856558G>A	ENSP00000319851:p.Ala272Val						p.A272V	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	4	1252	-		Hepatocellular(537;0.152)	272					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.815C>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668130	0.88348	.	.	ENSG00000016391	ENST00000315251	T	0.62941	-0.01	5.25	5.25	0.73442	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.120682	0.56097	D	0.000035	T	0.73458	0.3589	L	0.60067	1.865	0.80722	D	1	P	0.40534	0.72	P	0.53401	0.725	T	0.74740	-0.3563	10	0.72032	D	0.01	-13.9802	18.6399	0.91392	0.0:0.0:1.0:0.0	.	272	Q8NE62	CHDH_HUMAN	V	272	ENSP00000319851:A272V	ENSP00000319851:A272V	A	-	2	0	CHDH	53831598	1.000000	0.71417	0.971000	0.41717	0.498000	0.33706	5.692000	0.68256	2.749000	0.94314	0.655000	0.94253	GCA		0.642	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		15	18	0	0	0	1	0	15	18				
ZNF440	126070	broad.mit.edu	37	19	11942387	11942387	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11942387G>T	ENST00000304060.5	+	4	560	c.396G>T	c.(394-396)aaG>aaT	p.K132N		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGGACACAAGGCATATGAGT	0.413																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(394-396)aaG>aaT		zinc finger protein 440							182.0	182.0	182.0					19																	11942387		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942387G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.396G>T	19.37:g.11942387G>T	ENSP00000305373:p.Lys132Asn						p.K132N	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	560	+			132					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.396G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.488155	0.26686	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.09163	3.01;6.62;3.22;5.37	0.91	-1.71	0.08133	.	.	.	.	.	T	0.32010	0.0815	M	0.89968	3.075	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.07927	-1.0747	9	0.72032	D	0.01	.	6.4463	0.21877	0.466:0.0:0.534:0.0	.	132	Q8IYI8	ZN440_HUMAN	N	132;10;135;134	ENSP00000305373:K132N;ENSP00000404425:K10N;ENSP00000393489:K135N;ENSP00000411974:K134N	ENSP00000305373:K132N	K	+	3	2	ZNF440	11803387	0.002000	0.14202	0.001000	0.08648	0.040000	0.13550	-0.785000	0.04628	-0.679000	0.05217	0.205000	0.17691	AAG		0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		73	111	1	0	3.83446e-41	1	4.3104e-41	73	111				
SZT2	23334	broad.mit.edu	37	1	43903311	43903311	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43903311G>A	ENST00000562955.1	+	44	6165	c.6165G>A	c.(6163-6165)gcG>gcA	p.A2055A	SZT2_ENST00000372442.1_Silent_p.A1213A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2112					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AAGGGGATGCGCTGCCCCCTT	0.582																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6163-6165)gcG>gcA		seizure threshold 2 homolog (mouse)							40.0	38.0	39.0					1																	43903311		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43903311G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6165G>A	1.37:g.43903311G>A						SZT2_ENST00000372442.1_Silent_p.A1213A	p.A2055A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			44	6165	+			2112					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6165G>A	CCDS30694.2																																																																																				0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		15	19	0	0	0	1	0	15	19				
MYCBP2	23077	broad.mit.edu	37	13	77835490	77835490	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77835490G>A	ENST00000544440.2	-	12	1571	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.Y518Y|MYCBP2_ENST00000407578.2_Silent_p.Y556Y					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGACTCTGGTATTTGCCAG	0.358																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1666-1668)taC>taT		MYC binding protein 2, E3 ubiquitin protein ligase							101.0	93.0	96.0					13																	77835490		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835490G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1554C>T	13.37:g.77835490G>A						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.Y518Y|MYCBP2_ENST00000357337.6_Silent_p.Y518Y	p.Y556Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	12	1934	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	518						Silent	SNP	ENST00000544440.2	37	c.1668C>T																																																																																					0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		26	9	0	0	0	1	0	26	9				
TECPR1	25851	broad.mit.edu	37	7	97852477	97852477	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97852477C>T	ENST00000447648.2	-	21	3052	c.2753G>A	c.(2752-2754)tGc>tAc	p.C918Y	TECPR1_ENST00000379795.3_Missense_Mutation_p.C920Y|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	918					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCAGCTTGCATTTTCTGTA	0.667																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2752-2754)tGc>tAc		tectonin beta-propeller repeat containing 1							20.0	26.0	24.0					7																	97852477		1984	4152	6136	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97852477C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2753G>A	7.37:g.97852477C>T	ENSP00000404923:p.Cys918Tyr					TECPR1_ENST00000379795.3_Missense_Mutation_p.C920Y|TECPR1_ENST00000479975.1_5'UTR	p.C918Y			Q7Z6L1	TCPR1_HUMAN			21	3052	-			918					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2753G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.35048	1.34;1.33	4.91	4.91	0.64330	Ferlin/Peroxisome membrane (1);	0.046649	0.85682	D	0.000000	T	0.56775	0.2008	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.62740	0.906	T	0.59413	-0.7459	10	0.59425	D	0.04	-44.2797	17.2685	0.87093	0.0:1.0:0.0:0.0	.	918	Q7Z6L1	TCPR1_HUMAN	Y	918;920	ENSP00000404923:C918Y;ENSP00000369121:C920Y	ENSP00000369121:C920Y	C	-	2	0	TECPR1	97690413	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	7.109000	0.77062	2.561000	0.86390	0.561000	0.74099	TGC		0.667	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		5	2	0	0	0	1	0	5	2				
SLC39A9	55334	broad.mit.edu	37	14	69921597	69921597	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69921597G>A	ENST00000336643.5	+	5	1219	c.541G>A	c.(541-543)Gca>Aca	p.A181T	SLC39A9_ENST00000556605.1_Missense_Mutation_p.A181T|SLC39A9_ENST00000031146.4_Missense_Mutation_p.A115T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.A158T	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	181					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TGTGTTTGTGGCAATCATGCT	0.363																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(343-345)Gca>Aca		solute carrier family 39, member 9							264.0	214.0	231.0					14																	69921597		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69921597G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.541G>A	14.37:g.69921597G>A	ENSP00000336887:p.Ala181Thr					SLC39A9_ENST00000557046.1_Missense_Mutation_p.A158T|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.A181T|SLC39A9_ENST00000556605.1_Missense_Mutation_p.A181T	p.A115T			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	4	1021	+			181					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.343G>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081464	0.94050	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.68331	-0.32;-0.32;-0.32	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.83289	-0.0034	10	0.37606	T	0.19	-7.5591	18.044	0.89327	0.0:0.0:1.0:0.0	.	158;181;181	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	T	181;181;158	ENSP00000452385:A181T;ENSP00000336887:A181T;ENSP00000451833:A158T	ENSP00000031146:A181T	A	+	1	0	SLC39A9	68991350	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.329000	0.79093	0.491000	0.48974	GCA		0.363	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		5	70	0	0	0	1	0	5	70				
GTF2F1	2962	broad.mit.edu	37	19	6389529	6389529	+	Silent	SNP	G	G	A	rs201169675	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6389529G>A	ENST00000394456.5	-	4	716	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	84					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGACGATGCCGTACTTCTTCC	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13272	0.0		0.0	False		,,,				2504	0.0					ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(250-252)taC>taT		general transcription factor IIF, polypeptide 1, 74kDa							130.0	128.0	129.0					19																	6389529		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389529G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.252C>T	19.37:g.6389529G>A						GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	p.Y84Y	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	716	-			84					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.252C>T	CCDS12165.1																																																																																				0.617	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		42	61	0	0	0	1	0	42	61				
SNAPC2	6618	broad.mit.edu	37	19	7987037	7987037	+	Missense_Mutation	SNP	G	G	A	rs374752327		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7987037G>A	ENST00000221573.6	+	4	541	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	164					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGAAGACCCCGCCCCTGAAAT	0.657																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(490-492)Gcc>Acc		small nuclear RNA activating complex, polypeptide 2, 45kDa		G	THR/ALA	0,4406		0,0,2203	86.0	92.0	90.0		490	-5.0	0.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAPC2	NM_003083.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	164/335	7987037	1,13005	2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987037G>A	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.490G>A	19.37:g.7987037G>A	ENSP00000221573:p.Ala164Thr					SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	p.A164T	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			4	541	+			164					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.490G>A	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.064904	0.36470	0.0	1.16E-4	ENSG00000104976	ENST00000221573	T	0.52983	0.64	4.06	-5.03	0.02973	.	1.697640	0.04000	N	0.296264	T	0.40015	0.1100	L	0.50333	1.59	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.44267	-0.9339	10	0.59425	D	0.04	-4.7393	8.4233	0.32714	0.2168:0.1697:0.6135:0.0	.	164	Q13487	SNPC2_HUMAN	T	164	ENSP00000221573:A164T	ENSP00000221573:A164T	A	+	1	0	SNAPC2	7893037	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.148000	0.03185	-0.850000	0.04152	-0.401000	0.06369	GCC		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		30	32	0	0	0	1	0	30	32				
LRIF1	55791	broad.mit.edu	37	1	111492507	111492507	+	Missense_Mutation	SNP	G	G	C	rs144495047	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111492507G>C	ENST00000369763.4	-	3	2225	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.T76R|LRIF1_ENST00000494675.1_Missense_Mutation_p.T76R	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATAAACTCTGTCTCTTTGTA	0.373																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1834-1836)aCa>aGa		ligand dependent nuclear receptor interacting factor 1							181.0	188.0	186.0					1																	111492507		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492507G>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1835C>G	1.37:g.111492507G>C	ENSP00000358778:p.Thr612Arg					LRIF1_ENST00000485275.2_Missense_Mutation_p.T76R|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.T76R	p.T612R	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			3	2225	-			612					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1835C>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468480	0.26335	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.31510	1.91;1.49;1.49	5.69	3.77	0.43336	.	0.673920	0.14345	N	0.325441	T	0.14227	0.0344	L	0.47716	1.5	0.09310	N	1	P;B	0.36183	0.542;0.078	B;B	0.40066	0.318;0.118	T	0.15037	-1.0451	10	0.66056	D	0.02	-0.0082	7.2871	0.26346	0.086:0.0:0.7477:0.1664	.	76;612	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	R	612;76;76	ENSP00000358778:T612R;ENSP00000435259:T76R;ENSP00000432290:T76R	ENSP00000358778:T612R	T	-	2	0	LRIF1	111294030	0.091000	0.21658	0.001000	0.08648	0.570000	0.35934	2.849000	0.48286	0.713000	0.32060	0.563000	0.77884	ACA		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		26	38	0	0	0	1	0	26	38				
MYO9A	4649	broad.mit.edu	37	15	72300229	72300229	+	Missense_Mutation	SNP	G	G	A	rs374349089		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72300229G>A	ENST00000356056.5	-	8	1790	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R421W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R440W|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.R440W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R35W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	440	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTCATCCCGGTATGTCTTC	0.343																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1318-1320)Cgg>Tgg		myosin IXA		G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	130.0	129.0	130.0		1318	4.2	0.9	15		130	0,8594		0,0,4297	no	missense	MYO9A	NM_006901.2	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	440/2549	72300229	1,12991	2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72300229G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1318C>T	15.37:g.72300229G>A	ENSP00000348349:p.Arg440Trp					MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R421W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R35W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R440W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R440W	p.R440W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			8	1790	-			440			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1318C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864861	0.71949	2.27E-4	0.0	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87491	-2.26;-2.26;-2.26	5.17	4.25	0.50352	Myosin head, motor domain (2);	.	.	.	.	D	0.94245	0.8152	M	0.90922	3.16	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;0.994;0.995	D	0.94370	0.7595	9	0.45353	T	0.12	.	13.6016	0.62022	0.0766:0.0:0.9234:0.0	.	421;440;421;440	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	W	440;440;421;421;440	ENSP00000348349:R440W;ENSP00000399162:R440W;ENSP00000398250:R421W	ENSP00000261864:R421W	R	-	1	2	MYO9A	70087283	1.000000	0.71417	0.941000	0.38009	0.982000	0.71751	3.280000	0.51677	1.299000	0.44798	0.563000	0.77884	CGG		0.343	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		13	28	0	0	0	1	0	13	28				
PIP4K2A	5305	broad.mit.edu	37	10	22830863	22830863	+	Silent	SNP	G	G	A	rs111483402	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:22830863G>A	ENST00000376573.4	-	8	1134	c.906C>T	c.(904-906)ggC>ggT	p.G302G	PIP4K2A_ENST00000323883.7_Silent_p.G162G|PIP4K2A_ENST00000545335.1_Silent_p.G243G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	302	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CATCGCTCTCGCCCTCCTCCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17528	0.0		0.001	False		,,,				2504	0.001					ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(904-906)ggC>ggT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha		G		2,4404	4.2+/-10.8	0,2,2201	92.0	80.0	84.0		906	-1.8	1.0	10	dbSNP_132	84	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	PIP4K2A	NM_005028.4		0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846		302/407	22830863	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830863G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.906C>T	10.37:g.22830863G>A						PIP4K2A_ENST00000323883.7_Silent_p.G162G|PIP4K2A_ENST00000545335.1_Silent_p.G243G	p.G302G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1134	-			302			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.906C>T	CCDS7141.1																																																																																				0.602	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		4	36	0	0	0	1	0	4	36				
PLAA	9373	broad.mit.edu	37	9	26923257	26923257	+	Missense_Mutation	SNP	C	C	T	rs376535885		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26923257C>T	ENST00000397292.3	-	7	1375	c.958G>A	c.(958-960)Gca>Aca	p.A320T	PLAA_ENST00000520884.1_Missense_Mutation_p.A320T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	320					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAATGGTTGCGTGAGACAGT	0.398																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(958-960)Gca>Aca		phospholipase A2-activating protein		C	THR/ALA	0,4406		0,0,2203	189.0	170.0	177.0		958	4.0	1.0	9		177	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLAA	NM_001031689.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	320/796	26923257	1,13005	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26923257C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.958G>A	9.37:g.26923257C>T	ENSP00000380460:p.Ala320Thr					PLAA_ENST00000520884.1_Missense_Mutation_p.A320T	p.A320T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	7	1375	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	320					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.958G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746966	0.15710	0.0	1.16E-4	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.56444	0.46;0.63	4.86	3.97	0.46021	.	0.059063	0.64402	D	0.000001	T	0.35770	0.0943	N	0.20685	0.6	0.80722	D	1	B;B	0.25312	0.123;0.074	B;B	0.17098	0.017;0.012	T	0.10451	-1.0629	10	0.23891	T	0.37	-13.2559	13.6616	0.62370	0.0:0.9244:0.0:0.0756	.	320;320	E5RIM3;Q9Y263	.;PLAP_HUMAN	T	320	ENSP00000380460:A320T;ENSP00000429372:A320T	ENSP00000380460:A320T	A	-	1	0	PLAA	26913257	0.960000	0.32886	0.999000	0.59377	0.824000	0.46624	1.891000	0.39738	1.184000	0.42957	-0.119000	0.15052	GCA		0.398	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		11	121	0	0	0	1	0	11	121				
MMRN1	22915	broad.mit.edu	37	4	90856978	90856978	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:90856978G>A	ENST00000394980.1	+	7	2466	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	MMRN1_ENST00000264790.2_Missense_Mutation_p.R716H|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458H|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	716					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTAGAAAGACGTATCAATGAA	0.313																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2146-2148)cGt>cAt		multimerin 1							76.0	77.0	77.0					4																	90856978		2201	4295	6496	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856978G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2147G>A	4.37:g.90856978G>A	ENSP00000378431:p.Arg716His					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R716H|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458H	p.R716H			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2466	+		Hepatocellular(203;0.114)	716					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2147G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543590	0.27563	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.67698	0.04;0.04;-0.28	5.2	4.36	0.52297	.	0.155264	0.41294	N	0.000917	T	0.56819	0.2011	L	0.54323	1.7	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.56013	-0.8049	10	0.37606	T	0.19	.	9.2351	0.37461	0.2132:0.0:0.7868:0.0	.	716	Q13201	MMRN1_HUMAN	H	716;716;458	ENSP00000378431:R716H;ENSP00000264790:R716H;ENSP00000426461:R458H	ENSP00000264790:R716H	R	+	2	0	MMRN1	91076001	0.105000	0.21958	0.729000	0.30791	0.865000	0.49528	1.266000	0.33039	1.513000	0.48852	0.655000	0.94253	CGT		0.313	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		19	23	0	0	0	1	0	19	23				
SRSF4	6429	broad.mit.edu	37	1	29475269	29475269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29475269G>A	ENST00000373795.4	-	6	1372	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	380	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R380*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						ttgctgcctcgctttctgctc	0.592																																						ENST00000373795.4																			1	Substitution - Nonsense(1)	p.R380*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1138-1140)Cga>Tga		serine/arginine-rich splicing factor 4							55.0	54.0	54.0					1																	29475269		2203	4300	6503	SO:0001587	stop_gained	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475269G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1138C>T	1.37:g.29475269G>A	ENSP00000362900:p.Arg380*					SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	p.R380*	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1372	-			380			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	ENST00000373795.4	37	c.1138C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612847	0.87258	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	.	.	.	5.72	5.72	0.89469	.	0.442863	0.22949	N	0.053682	.	.	.	.	.	.	0.26382	N	0.976728	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4435	0.61127	0.0:0.0:0.8433:0.1567	.	.	.	.	X	380	.	ENSP00000362900:R380X	R	-	1	2	SRSF4	29347856	0.617000	0.27043	0.011000	0.14972	0.946000	0.59487	2.315000	0.43752	2.691000	0.91804	0.655000	0.94253	CGA		0.592	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		15	28	0	0	0	1	0	15	28				
GPM6B	2824	broad.mit.edu	37	X	13792708	13792708	+	Silent	SNP	C	C	T	rs199562978		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:13792708C>T	ENST00000356942.5	-	7	1194	c.753G>A	c.(751-753)gcG>gcA	p.A251A	GPM6B_ENST00000316715.4_Intron|GPM6B_ENST00000355135.2_Silent_p.A291A|GPM6B_ENST00000454189.2_Silent_p.A232A|GPM6B_ENST00000398361.3_Silent_p.A165A|GPM6B_ENST00000493677.1_Intron	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	251					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTTCAAAACCGCATAGTTAT	0.418																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(694-696)gcG>gcA		glycoprotein M6B		C	,,,	0,3835		0,0,0,1632,571	113.0	101.0	105.0		696,,873,753	1.7	1.0	X		105	3,6725		0,2,1,2426,1871	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	GPM6B	NM_001001994.1,NM_001001995.1,NM_001001996.1,NM_005278.3	,,,	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	,,,	232/247,,291/306,251/266	13792708	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13792708C>T		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.753G>A	X.37:g.13792708C>T						GPM6B_ENST00000356942.5_Silent_p.A251A|GPM6B_ENST00000398361.3_Silent_p.A165A|GPM6B_ENST00000493677.1_Intron|GPM6B_ENST00000355135.2_Silent_p.A291A|GPM6B_ENST00000316715.4_Intron	p.A232A	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			7	823	-			251					O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	c.696G>A	CCDS14158.1																																																																																				0.418	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		32	5	0	0	0	1	0	32	5				
ANKS1B	56899	broad.mit.edu	37	12	99837486	99837486	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99837486C>T	ENST00000547776.2	-	11	1539	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	514						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.A514P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTTGAGGGCAGTATCAGGG	0.428																																						ENST00000547776.2																			1	Substitution - Missense(1)	p.A514P(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1540-1542)Gcc>Acc		ankyrin repeat and sterile alpha motif domain containing 1B							168.0	163.0	165.0					12																	99837486		1891	4115	6006	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837486C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1540G>A	12.37:g.99837486C>T	ENSP00000449629:p.Ala514Thr					ANKS1B_ENST00000547010.1_Missense_Mutation_p.A94T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A514T	p.A514T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1539	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	514					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1540G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407638	0.96051	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.61980	0.87;0.06;0.87;0.69	6.04	6.04	0.98038	.	0.064506	0.64402	D	0.000011	T	0.73241	0.3562	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.87578	0.998;0.995;0.984	T	0.68723	-0.5333	9	.	.	.	-8.5843	18.7754	0.91910	0.0:1.0:0.0:0.0	.	480;94;514	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	T	514;94;514;93;480	ENSP00000449629:A514T;ENSP00000448512:A94T;ENSP00000331381:A514T;ENSP00000449894:A480T	.	A	-	1	0	ANKS1B	98361617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.577000	0.74027	2.873000	0.98535	0.563000	0.77884	GCC		0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		7	42	0	0	0	1	0	7	42				
E2F1	1869	broad.mit.edu	37	20	32267636	32267636	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32267636C>T	ENST00000343380.5	-	3	636	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	166	Interaction with BIRC2/c-IAP1.|Leucine-zipper.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCATAGATGCGCCGCTTCTG	0.592																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(496-498)cGc>cAc		E2F transcription factor 1							178.0	148.0	158.0					20																	32267636		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32267636C>T		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.497G>A	20.37:g.32267636C>T	ENSP00000345571:p.Arg166His						p.R166H	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			3	636	-			166			Leucine-zipper.		Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.497G>A	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201519	0.94997	.	.	ENSG00000101412	ENST00000343380	T	0.65916	-0.18	4.72	4.72	0.59763	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92226	0.5788	10	0.87932	D	0	-12.7834	16.9679	0.86291	0.0:1.0:0.0:0.0	.	166	Q01094	E2F1_HUMAN	H	166	ENSP00000345571:R166H	ENSP00000345571:R166H	R	-	2	0	E2F1	31731297	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.609000	0.82925	2.608000	0.88229	0.462000	0.41574	CGC		0.592	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			42	7	0	0	0	1	0	42	7				
PEF1	553115	broad.mit.edu	37	1	32098074	32098074	+	Intron	SNP	G	G	A	rs368801362		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32098074G>A	ENST00000373703.4	-	4	648				HCRTR1_ENST00000373705.1_Silent_p.S375S|PEF1_ENST00000492061.1_5'Flank	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1						proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCTGCCCATCGTGCCCCGGCC	0.537																																						ENST00000373705.1																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(1123-1125)tcG>tcA		hypocretin (orexin) receptor 1		A		1,4405	2.1+/-5.4	0,1,2202	52.0	53.0	52.0			-5.9	0.0	1		52	1,8599		0,1,4299	no	intron	PEF1	NM_012392.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154			32098074	2,13004	2203	4300	6503	SO:0001627	intron_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32098074G>A		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.625+21C>T	1.37:g.32098074G>A						PEF1_ENST00000373703.4_Intron	p.S375S			O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	7	1125	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	375						Silent	SNP	ENST00000373703.4	37	c.1125G>A	CCDS345.1																																																																																				0.537	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		17	22	0	0	0	1	0	17	22				
SIX6	4990	broad.mit.edu	37	14	60976281	60976281	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60976281C>T	ENST00000327720.5	+	1	613	c.165C>T	c.(163-165)cgC>cgT	p.R55R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	55					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CGGTGCTACGCGCACGAGCCA	0.622																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(163-165)cgC>cgT		SIX homeobox 6							42.0	44.0	43.0					14																	60976281		2203	4300	6503	SO:0001819	synonymous_variant	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976281C>T	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.165C>T	14.37:g.60976281C>T							p.R55R	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	613	+			55					Q6NT42|Q9P1X8	Silent	SNP	ENST00000327720.5	37	c.165C>T	CCDS9747.1																																																																																				0.622	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			5	19	0	0	0	1	0	5	19				
FBXO30	84085	broad.mit.edu	37	6	146126587	146126587	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146126587C>T	ENST00000237281.4	-	2	1121	c.955G>A	c.(955-957)Gca>Aca	p.A319T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	319							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCTGATGATGCCACACAGTCT	0.418																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(955-957)Gca>Aca		F-box protein 30							125.0	117.0	120.0					6																	146126587		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126587C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.955G>A	6.37:g.146126587C>T	ENSP00000237281:p.Ala319Thr						p.A319T	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1121	-		Ovarian(120;0.0776)	319					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.955G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.509305	0.00984	.	.	ENSG00000118496	ENST00000237281	T	0.19669	2.13	5.66	1.56	0.23342	.	0.920237	0.09463	N	0.798758	T	0.06325	0.0163	L	0.40543	1.245	0.09310	N	1	B	0.20671	0.047	B	0.14023	0.01	T	0.38329	-0.9666	10	0.25751	T	0.34	-5.0847	10.2398	0.43305	0.3224:0.4637:0.2139:0.0	.	319	Q8TB52	FBX30_HUMAN	T	319	ENSP00000237281:A319T	ENSP00000237281:A319T	A	-	1	0	FBXO30	146168280	0.721000	0.28007	0.987000	0.45799	0.158000	0.22134	1.356000	0.34079	0.804000	0.34136	0.655000	0.94253	GCA		0.418	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			37	34	0	0	0	1	0	37	34				
HPCAL4	51440	broad.mit.edu	37	1	40149676	40149676	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:40149676G>T	ENST00000372844.3	-	3	702	c.311C>A	c.(310-312)gCc>gAc	p.A104D		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATCTCAAAGGCCCAGTTGAG	0.657																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(310-312)gCc>gAc		hippocalcin like 4							54.0	55.0	55.0					1																	40149676		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149676G>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.311C>A	1.37:g.40149676G>T	ENSP00000361935:p.Ala104Asp						p.A104D	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	702	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	104			EF-hand 3.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.311C>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781789	0.70222	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.42513	0.97	3.45	3.45	0.39498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.89658	3.05	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.79269	-0.1873	10	0.87932	D	0	.	16.2222	0.82265	0.0:0.0:1.0:0.0	.	104	Q9UM19	HPCL4_HUMAN	D	104;96	ENSP00000361935:A104D	ENSP00000361935:A104D	A	-	2	0	HPCAL4	39922263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.594000	0.98254	2.231000	0.72958	0.313000	0.20887	GCC		0.657	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		8	22	1	0	0.000157383	1	0.000161063	8	22				
ADCY10	55811	broad.mit.edu	37	1	167793914	167793914	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167793914T>C	ENST00000367851.4	-	27	4114	c.3930A>G	c.(3928-3930)ggA>ggG	p.G1310G	ADCY10_ENST00000545172.1_Silent_p.G1157G|ADCY10_ENST00000367848.1_Silent_p.G1218G	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATCCAGGTGTCCCATTATGA	0.502																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3652-3654)ggA>ggG		adenylate cyclase 10 (soluble)							200.0	177.0	185.0					1																	167793914		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793914T>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3930A>G	1.37:g.167793914T>C						ADCY10_ENST00000367851.4_Silent_p.G1310G|ADCY10_ENST00000545172.1_Silent_p.G1157G|ADCY10_ENST00000485964.1_5'UTR	p.G1218G			Q96PN6	ADCYA_HUMAN			27	4151	-			1310					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3654A>G	CCDS1265.1																																																																																				0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		44	65	0	0	0	1	0	44	65				
ZCCHC5	203430	broad.mit.edu	37	X	77913290	77913290	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77913290G>T	ENST00000321110.1	-	2	923	c.628C>A	c.(628-630)Ctg>Atg	p.L210M		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	210							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGACCCTCCAGGGACTCCTGG	0.527																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(628-630)Ctg>Atg		zinc finger, CCHC domain containing 5							35.0	35.0	35.0					X																	77913290		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913290G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.628C>A	X.37:g.77913290G>T	ENSP00000316794:p.Leu210Met						p.L210M	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	923	-			210					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.628C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743548	0.49151	.	.	ENSG00000179300	ENST00000321110	T	0.23754	1.89	3.36	2.49	0.30216	.	.	.	.	.	T	0.30792	0.0776	N	0.24115	0.695	0.09310	N	0.999995	D	0.76494	0.999	D	0.80764	0.994	T	0.07271	-1.0781	9	0.56958	D	0.05	.	4.8308	0.13439	0.2873:0.0:0.7127:0.0	.	210	Q8N8U3	ZCHC5_HUMAN	M	210	ENSP00000316794:L210M	ENSP00000316794:L210M	L	-	1	2	ZCCHC5	77799946	0.015000	0.18098	0.151000	0.22473	0.316000	0.28119	0.566000	0.23593	0.790000	0.33803	0.513000	0.50165	CTG		0.527	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		10	4	1	0	2.17888e-05	1	2.24846e-05	10	4				
COLGALT2	23127	broad.mit.edu	37	1	183938608	183938608	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183938608C>A	ENST00000361927.4	-	5	999		c.e5-1		COLGALT2_ENST00000546159.1_Splice_Site	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2						extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TATAGAAGCCCTGTAAAAGAG	0.458																																						ENST00000361927.4																			0											c.e5-1		collagen beta(1-O)galactosyltransferase 2							62.0	67.0	66.0					1																	183938608		2203	4300	6503	SO:0001630	splice_region_variant	23127							g.chr1:183938608C>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.628-1G>T	1.37:g.183938608C>A						COLGALT2_ENST00000546159.1_Splice_Site		NM_015101.2	NP_055916.1					5	999	-								O60327|Q9BZR0	Splice_Site	SNP	ENST00000361927.4	37		CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625884	0.87560	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLT25D2	182205231	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.486000	0.81215	2.681000	0.91329	0.591000	0.81541	.		0.458	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	Intron	9	18	1	0	3.09899e-07	1	3.24337e-07	9	18				
VPRBP	9730	broad.mit.edu	37	3	51456180	51456180	+	Silent	SNP	G	G	A	rs556883362	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51456180G>A	ENST00000335891.5	-	8	2049	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1129					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTATAGCTGGCCTCCTCCT	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		18165	0.0		0.0	False		,,,				2504	0.002					ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2038-2040)gcC>gcT		Vpr (HIV-1) binding protein							129.0	131.0	130.0					3																	51456180		2042	4199	6241	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51456180G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2040C>T	3.37:g.51456180G>A							p.A680A			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	8	2049	-			1129					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.2040C>T																																																																																					0.507	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		38	57	0	0	0	1	0	38	57				
CLRN2	645104	broad.mit.edu	37	4	17516912	17516912	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:17516912C>T	ENST00000511148.2	+	1	125	c.23C>T	c.(22-24)gCg>gTg	p.A8V		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	8						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTCAAAAAGGCGTGGTATGGG	0.542																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(22-24)gCg>gTg		clarin 2							111.0	119.0	116.0					4																	17516912		2081	4201	6282	SO:0001583	missense	645104					integral to membrane		g.chr4:17516912C>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.23C>T	4.37:g.17516912C>T	ENSP00000424711:p.Ala8Val						p.A8V	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			1	125	+			8						Missense_Mutation	SNP	ENST00000511148.2	37	c.23C>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335237	0.11013	.	.	ENSG00000249581	ENST00000511148	T	0.78126	-1.15	5.65	3.55	0.40652	.	0.440896	0.23226	N	0.050514	T	0.45836	0.1362	N	0.01874	-0.695	0.22050	N	0.999393	B	0.02656	0.0	B	0.01281	0.0	T	0.36962	-0.9726	10	0.05959	T	0.93	-5.2623	8.1442	0.31102	0.0:0.7137:0.0:0.2863	.	8	A0PK11	CLRN2_HUMAN	V	8	ENSP00000424711:A8V	ENSP00000424711:A8V	A	+	2	0	CLRN2	17126010	0.235000	0.23794	0.928000	0.36995	0.912000	0.54170	0.164000	0.16542	0.501000	0.28013	0.655000	0.94253	GCG		0.542	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		17	32	0	0	0	1	0	17	32				
LRP1	4035	broad.mit.edu	37	12	57604585	57604585	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57604585G>A	ENST00000243077.3	+	83	13305	c.12839G>A	c.(12838-12840)aGc>aAc	p.S4280N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4280	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCAACAACAGCACCTGCACT	0.672																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12838-12840)aGc>aAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						57.0	59.0	58.0					12																	57604585		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57604585G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12839G>A	12.37:g.57604585G>A	ENSP00000243077:p.Ser4280Asn						p.S4280N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	83	13305	+			4280			EGF-like 19.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12839G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518272	0.85495	.	.	ENSG00000123384	ENST00000243077	T	0.10288	2.89	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.068173	0.64402	D	0.000018	T	0.09598	0.0236	L	0.29908	0.895	0.80722	D	1	B	0.23937	0.094	B	0.18871	0.023	T	0.17684	-1.0361	10	0.31617	T	0.26	.	16.3851	0.83502	0.0:0.0:1.0:0.0	.	4280	Q07954	LRP1_HUMAN	N	4280	ENSP00000243077:S4280N	ENSP00000243077:S4280N	S	+	2	0	LRP1	55890852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.397000	0.79903	2.502000	0.84385	0.462000	0.41574	AGC		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	19	0	0	0	1	0	19	19				
SWT1	54823	broad.mit.edu	37	1	185259918	185259918	+	Missense_Mutation	SNP	C	C	T	rs140708949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185259918C>T	ENST00000367500.4	+	19	2851	c.2686C>T	c.(2686-2688)Ctc>Ttc	p.L896F	SWT1_ENST00000367501.3_Missense_Mutation_p.L896F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	896										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAAGACATGCTCAACTATAG	0.408																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2686-2688)Ctc>Ttc		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		C	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	87.0		2686,2686	4.8	0.0	1	dbSNP_134	87	0,8600		0,0,4300	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	22,22	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	896/901,896/901	185259918	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259918C>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2686C>T	1.37:g.185259918C>T	ENSP00000356470:p.Leu896Phe					SWT1_ENST00000367501.3_Missense_Mutation_p.L896F	p.L896F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2851	+			896					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2686C>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152615	0.21371	2.27E-4	0.0	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.32515	1.45;1.45	5.67	4.76	0.60689	.	0.242952	0.29383	N	0.012318	T	0.22898	0.0553	L	0.27053	0.805	0.28657	N	0.90633	B	0.29508	0.246	B	0.26094	0.066	T	0.18053	-1.0349	10	0.87932	D	0	.	12.7208	0.57142	0.0:0.9244:0.0:0.0756	.	896	Q5T5J6	SWT1_HUMAN	F	896	ENSP00000356471:L896F;ENSP00000356470:L896F	ENSP00000356470:L896F	L	+	1	0	SWT1	183526541	0.000000	0.05858	0.019000	0.16419	0.074000	0.17049	-0.041000	0.12084	1.390000	0.46547	0.655000	0.94253	CTC		0.408	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		13	22	0	0	0	1	0	13	22				
CORO6	84940	broad.mit.edu	37	17	27943974	27943974	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27943974G>A	ENST00000445145.2	-	6	841	c.840C>T	c.(838-840)atC>atT	p.I280I	CORO6_ENST00000456796.3_Silent_p.I46I|CORO6_ENST00000345068.5_Silent_p.I280I|CORO6_ENST00000580212.1_Silent_p.I240I|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.I280I|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Silent_p.I280I			Q6QEF8	CORO6_HUMAN	coronin 6	280					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ACAGGTAGACGATGCTGGAGT	0.617																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(838-840)atC>atT		coronin 6							171.0	159.0	163.0					17																	27943974		2203	4300	6503	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943974G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.840C>T	17.37:g.27943974G>A						RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Silent_p.I280I|CORO6_ENST00000584969.1_Silent_p.I280I|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000580212.1_Silent_p.I240I|CORO6_ENST00000445145.2_Silent_p.I280I|CORO6_ENST00000456796.3_Silent_p.I46I	p.I280I			Q6QEF8	CORO6_HUMAN			7	1053	-			280					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.840C>T																																																																																					0.617	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		4	67	0	0	0	1	0	4	67				
LRCH1	23143	broad.mit.edu	37	13	47315857	47315857	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:47315857C>T	ENST00000389798.3	+	19	2258	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	LRCH1_ENST00000389797.3_Silent_p.L722L|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	687	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTGGCACTCGGGGAGAAAG	0.512																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2059-2061)ctC>ctT		leucine-rich repeats and calponin homology (CH) domain containing 1							315.0	322.0	320.0					13																	47315857		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47315857C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2061C>T	13.37:g.47315857C>T						LRCH1_ENST00000389797.3_Silent_p.L722L|LRCH1_ENST00000311191.6_Intron	p.L687L	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2258	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	687			CH.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.2061C>T	CCDS31972.1																																																																																				0.512	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		110	155	0	0	0	1	0	110	155				
ZNF30	90075	broad.mit.edu	37	19	35435319	35435319	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35435319C>T	ENST00000601142.1	+	5	1686	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	ZNF30_ENST00000439785.1_Silent_p.P484P|ZNF30_ENST00000303586.7_Silent_p.P484P|ZNF30_ENST00000426813.2_Silent_p.P402P|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATGTAAAGCCCTATGAATGTA	0.433																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1450-1452)ccC>ccT		zinc finger protein 30							79.0	84.0	82.0					19																	35435319		2202	4300	6502	SO:0001819	synonymous_variant	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435319C>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1449C>T	19.37:g.35435319C>T						ZNF30_ENST00000601142.1_Silent_p.P483P|ZNF30_ENST00000426813.2_Silent_p.P402P|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Silent_p.P484P	p.P484P	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1896	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		483					A5PLP1|A8K320|B4DIC0|Q6N068	Silent	SNP	ENST00000601142.1	37	c.1452C>T	CCDS46045.1																																																																																				0.433	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		8	20	0	0	0	1	0	8	20				
HDAC7	51564	broad.mit.edu	37	12	48190906	48190906	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48190906C>T	ENST00000427332.2	-	7	636	c.480G>A	c.(478-480)aaG>aaA	p.K160K	HDAC7_ENST00000552960.1_Silent_p.K182K|HDAC7_ENST00000354334.3_Silent_p.K199K|HDAC7_ENST00000380610.4_Silent_p.K216K|HDAC7_ENST00000080059.7_Silent_p.K199K			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	160	Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TATAGCGCAGCTTCAGGTTGG	0.622																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(595-597)aaG>aaA		histone deacetylase 7							74.0	74.0	74.0					12																	48190906		2203	4300	6503	SO:0001819	synonymous_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48190906C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.480G>A	12.37:g.48190906C>T						HDAC7_ENST00000552960.1_Silent_p.K182K|HDAC7_ENST00000380610.4_Silent_p.K216K|HDAC7_ENST00000354334.3_Silent_p.K199K|HDAC7_ENST00000427332.2_Silent_p.K160K	p.K199K	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	7	596	-			160			Poly-Ser.|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.597G>A																																																																																					0.622	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			19	25	0	0	0	1	0	19	25				
ZSWIM4	65249	broad.mit.edu	37	19	13923941	13923941	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13923941C>T	ENST00000254323.2	+	6	1332	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	ZSWIM4_ENST00000440752.2_Silent_p.D98D|RN7SL619P_ENST00000581753.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	381							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTCCTTCGACGGCCCCAGCC	0.622																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1141-1143)gaC>gaT		zinc finger, SWIM-type containing 4							37.0	35.0	36.0					19																	13923941		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13923941C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1143C>T	19.37:g.13923941C>T						ZSWIM4_ENST00000440752.2_Silent_p.D98D	p.D381D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		6	1332	+			381						Silent	SNP	ENST00000254323.2	37	c.1143C>T	CCDS32924.1																																																																																				0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	12	0	0	0	1	0	4	12				
CASR	846	broad.mit.edu	37	3	122003464	122003464	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122003464C>T	ENST00000490131.1	+	7	3035	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.T888M|CASR_ENST00000498619.1_Missense_Mutation_p.T898M	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	888	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCCGGGCCACGCTGCGCCGC	0.617																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2692-2694)aCg>aTg		calcium-sensing receptor	Cinacalcet(DB01012)						31.0	32.0	32.0					3																	122003464		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003464C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2663C>T	3.37:g.122003464C>T	ENSP00000418685:p.Thr888Met					CASR_ENST00000296154.5_Missense_Mutation_p.T888M|CASR_ENST00000490131.1_Missense_Mutation_p.T888M	p.T898M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3131	+			888		R -> Q (in IGE8).	Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2693C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181443	0.78677	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89415	-2.51;-2.51;-2.51	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	D	0.91909	0.5538	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	898;888	E7ENE0;P41180	.;CASR_HUMAN	M	888;898;888	ENSP00000418685:T888M;ENSP00000420194:T898M;ENSP00000296154:T888M	ENSP00000296154:T888M	T	+	2	0	CASR	123486154	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	5.825000	0.69286	2.793000	0.96121	0.561000	0.74099	ACG		0.617	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		8	13	0	0	0	1	0	8	13				
CAPS2	84698	broad.mit.edu	37	12	75678791	75678791	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:75678791G>A	ENST00000409445.3	-	16	1718	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R426C|CAPS2_ENST00000393284.3_Missense_Mutation_p.R276C|CAPS2_ENST00000442339.2_Missense_Mutation_p.R98C	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	508	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATAATACCACGTTTGAATTCT	0.313																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(826-828)Cgt>Tgt		calcyphosine 2							131.0	118.0	122.0					12																	75678791		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75678791G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1522C>T	12.37:g.75678791G>A	ENSP00000386959:p.Arg508Cys					CAPS2_ENST00000409445.3_Missense_Mutation_p.R508C|CAPS2_ENST00000409799.1_Missense_Mutation_p.R426C|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.R98C	p.R276C			Q9BXY5	CAYP2_HUMAN			15	1427	-			508					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.826C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413460	0.25465	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.53	4.64	0.57946	EF-hand-like domain (1);	0.221670	0.38837	N	0.001548	T	0.66665	0.2812	M	0.71581	2.175	0.58432	D	0.999991	P;B;P;B;B	0.43412	0.456;0.084;0.806;0.394;0.211	B;B;B;B;B	0.34931	0.089;0.021;0.192;0.076;0.052	T	0.70292	-0.4912	10	0.44086	T	0.13	-6.2187	14.4315	0.67254	0.0707:0.0:0.9293:0.0	.	98;276;244;508;426	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	C	426;508;244;276;98	ENSP00000386977:R426C;ENSP00000386959:R508C;ENSP00000376963:R276C;ENSP00000389633:R98C	ENSP00000367975:R244C	R	-	1	0	CAPS2	73965058	0.987000	0.35691	0.958000	0.39756	0.027000	0.11550	3.983000	0.56916	1.471000	0.48121	0.650000	0.86243	CGT		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			23	34	0	0	0	1	0	23	34				
TRPM4	54795	broad.mit.edu	37	19	49713566	49713566	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49713566C>T	ENST00000252826.5	+	21	3358	c.3232C>T	c.(3232-3234)Ccc>Tcc	p.P1078S	TRPM4_ENST00000355712.5_Missense_Mutation_p.P724S|TRPM4_ENST00000427978.2_Missense_Mutation_p.P933S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1078	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCTGGCCCCGCCCTTTATCGT	0.627																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3232-3234)Ccc>Tcc		transient receptor potential cation channel, subfamily M, member 4							58.0	58.0	58.0					19																	49713566		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713566C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3232C>T	19.37:g.49713566C>T	ENSP00000252826:p.Pro1078Ser					TRPM4_ENST00000427978.2_Missense_Mutation_p.P933S|TRPM4_ENST00000355712.5_Missense_Mutation_p.P724S	p.P1078S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3358	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1078			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3232C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393412	0.83011	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.55052	0.54;0.54;0.54	5.34	4.29	0.51040	.	0.055479	0.64402	D	0.000001	T	0.79528	0.4461	H	0.94306	3.52	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.936;0.959;0.959;0.999	D	0.85767	0.1353	10	0.87932	D	0	-31.6284	14.5082	0.67767	0.1485:0.8515:0.0:0.0	.	724;904;933;1078	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	1078;933;724	ENSP00000252826:P1078S;ENSP00000407492:P933S;ENSP00000347944:P724S	ENSP00000252826:P1078S	P	+	1	0	TRPM4	54405378	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	7.401000	0.79962	1.365000	0.46057	-0.500000	0.04577	CCC		0.627	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		18	31	0	0	0	1	0	18	31				
RGS13	6003	broad.mit.edu	37	1	192628557	192628557	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:192628557C>T	ENST00000391995.2	+	7	672	c.384C>T	c.(382-384)gtC>gtT	p.V128V	RGS13_ENST00000543215.1_Silent_p.V128V|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	128	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AGAAAATAGTCTATATGCATA	0.368																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(382-384)gtC>gtT		regulator of G-protein signaling 13							85.0	77.0	80.0					1																	192628557		2203	4300	6503	SO:0001819	synonymous_variant	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628557C>T	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.384C>T	1.37:g.192628557C>T						RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Silent_p.V128V	p.V128V	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			7	672	+			128			RGS.		Q6PGR2|Q8TD63|Q9BX45	Silent	SNP	ENST00000391995.2	37	c.384C>T	CCDS1376.1																																																																																				0.368	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		31	20	0	0	0	1	0	31	20				
GALNT16	57452	broad.mit.edu	37	14	69800217	69800217	+	Silent	SNP	G	G	A	rs376007601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69800217G>A	ENST00000337827.4	+	9	1194	c.867G>A	c.(865-867)acG>acA	p.T289T	GALNT16_ENST00000448469.3_Silent_p.T289T|GALNT16_ENST00000553669.1_Silent_p.T289T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	289	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CTCCCAGGACGCCTGTCATAG	0.547																																						ENST00000337827.4																			0											c.(865-867)acG>acA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16		G	,	1,4405	2.1+/-5.4	0,1,2202	92.0	79.0	83.0		867,867	-9.2	0.5	14		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GALNTL1	NM_001168368.1,NM_020692.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	289/559,289/559	69800217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57452							g.chr14:69800217G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.867G>A	14.37:g.69800217G>A						GALNT16_ENST00000448469.3_Silent_p.T289T|GALNT16_ENST00000553669.1_Silent_p.T289T	p.T289T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					9	1194	+								Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	ENST00000337827.4	37	c.867G>A	CCDS32107.1																																																																																				0.547	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		20	41	0	0	0	1	0	20	41				
SLCO3A1	28232	broad.mit.edu	37	15	92671655	92671655	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92671655C>T	ENST00000318445.6	+	7	1662	c.1448C>T	c.(1447-1449)aCt>aTt	p.T483I	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.T483I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	483	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATTCCTTCACTCCAGTGTGT	0.567																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1447-1449)aCt>aTt		solute carrier organic anion transporter family, member 3A1							185.0	145.0	158.0					15																	92671655		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671655C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1448C>T	15.37:g.92671655C>T	ENSP00000320634:p.Thr483Ile					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.T483I	p.T483I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1662	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		483			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1448C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444151	0.43429	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.04275	3.66;3.66	5.46	5.46	0.80206	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.041017	0.85682	D	0.000000	T	0.08980	0.0222	N	0.25332	0.735	0.58432	D	0.999998	P;D;B	0.53151	0.744;0.958;0.03	B;P;B	0.51229	0.154;0.663;0.063	T	0.16748	-1.0392	10	0.48119	T	0.1	.	19.3038	0.94153	0.0:1.0:0.0:0.0	.	425;483;483	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	I	483;483;202	ENSP00000320634:T483I;ENSP00000387846:T483I	ENSP00000320634:T483I	T	+	2	0	SLCO3A1	90472659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.694000	0.68272	2.569000	0.86673	0.655000	0.94253	ACT		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		30	52	0	0	0	1	0	30	52				
KIAA0556	23247	broad.mit.edu	37	16	27788316	27788316	+	Missense_Mutation	SNP	C	C	T	rs150197704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27788316C>T	ENST00000261588.4	+	25	4536	c.4517C>T	c.(4516-4518)gCg>gTg	p.A1506V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1506						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A1506V(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAATTATGCGAAAACACCC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.001					ENST00000261588.4																			2	Substitution - Missense(2)	p.A1506V(2)	endometrium(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4516-4518)gCg>gTg		KIAA0556		C	VAL/ALA	0,4394		0,0,2197	189.0	185.0	186.0		4517	5.2	0.3	16	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0556	NM_015202.2	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	1506/1619	27788316	1,12993	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27788316C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4517C>T	16.37:g.27788316C>T	ENSP00000261588:p.Ala1506Val						p.A1506V	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			25	4536	+			1506					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.4517C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581273	0.65992	0.0	1.16E-4	ENSG00000047578	ENST00000261588	T	0.14144	2.53	5.24	5.24	0.73138	.	0.144733	0.47852	D	0.000217	T	0.15912	0.0383	L	0.59436	1.845	0.31576	N	0.655686	P	0.40000	0.698	B	0.31245	0.126	T	0.10428	-1.0630	10	0.52906	T	0.07	-6.9936	18.4618	0.90741	0.0:1.0:0.0:0.0	.	1506	O60303	K0556_HUMAN	V	1506	ENSP00000261588:A1506V	ENSP00000261588:A1506V	A	+	2	0	KIAA0556	27695817	1.000000	0.71417	0.278000	0.24718	0.988000	0.76386	5.702000	0.68332	2.445000	0.82738	0.561000	0.74099	GCG		0.443	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		14	176	0	0	0	1	0	14	176				
SEPT8	23176	broad.mit.edu	37	5	132099517	132099517	+	Missense_Mutation	SNP	G	G	A	rs371690570		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132099517G>A	ENST00000378719.2	-	4	652	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	SEPT8_ENST00000378699.2_Missense_Mutation_p.R79C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R79C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R139C|SEPT8_ENST00000378701.1_Missense_Mutation_p.R137C|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.R139C|SEPT8_ENST00000378706.1_Missense_Mutation_p.R139C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R137C	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	139	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCGAGCGGCGGATCTTCAGC	0.522											OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(415-417)Cgc>Tgc		septin 8		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3976		0,0,1988	152.0	154.0	153.0		415,415,235,415	3.1	1.0	5		153	1,8349		0,1,4174	no	missense,missense,missense,missense	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	180,180,180,180	0,1,6162	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign,benign	139/484,139/443,79/370,139/430	132099517	1,12325	1988	4175	6163	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099517G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.415C>T	5.37:g.132099517G>A	ENSP00000367991:p.Arg139Cys		OREG0003468	type=REGULATORY REGION|Gene=LOC540614|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1592	SEPT8_ENST00000378699.2_Missense_Mutation_p.R79C|SEPT8_ENST00000378706.1_Missense_Mutation_p.R139C|SEPT8_ENST00000378701.1_Missense_Mutation_p.R137C|SEPT8_ENST00000378719.2_Missense_Mutation_p.R139C|SEPT8_ENST00000378721.4_Missense_Mutation_p.R137C|SEPT8_ENST00000448933.1_Missense_Mutation_p.R79C|SEPT8_ENST00000458488.2_Missense_Mutation_p.R139C	p.R139C	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	698	-		all_cancers(142;0.0751)|Breast(839;0.198)	139					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.415C>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272405	0.59649	0.0	1.2E-4	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480;ENST00000414594	T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.92	3.09	0.35607	.	0.126846	0.52532	D	0.000066	T	0.43875	0.1267	L	0.56124	1.755	0.52501	D	0.999956	B;B;B;B	0.20459	0.015;0.015;0.009;0.045	B;B;B;B	0.19946	0.007;0.004;0.027;0.007	T	0.38373	-0.9664	10	0.66056	D	0.02	.	12.672	0.56872	0.0:0.0:0.5658:0.4342	.	137;137;139;139	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	C	139;137;139;79;139;79;137;139;77;79	ENSP00000367991:R139C;ENSP00000367993:R137C;ENSP00000296873:R139C;ENSP00000399840:R79C;ENSP00000367978:R139C;ENSP00000367971:R79C;ENSP00000367973:R137C;ENSP00000394766:R139C;ENSP00000407421:R77C;ENSP00000411823:R79C	ENSP00000296873:R139C	R	-	1	0	SEPT8	132127416	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	4.109000	0.57824	0.451000	0.26802	0.467000	0.42956	CGC		0.522	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		48	67	0	0	0	1	0	48	67				
FMO5	2330	broad.mit.edu	37	1	146684990	146684990	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:146684990G>A	ENST00000254090.4	-	4	760	c.372C>T	c.(370-372)ggC>ggT	p.G124G	FMO5_ENST00000369272.3_Silent_p.G124G|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Silent_p.G124G	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTCCCATTGGCCTGAAGTGG	0.478																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(370-372)ggC>ggT		flavin containing monooxygenase 5							273.0	253.0	260.0					1																	146684990		2203	4300	6503	SO:0001819	synonymous_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684990G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.372C>T	1.37:g.146684990G>A						FMO5_ENST00000369272.3_Silent_p.G124G|FMO5_ENST00000441068.2_Silent_p.G124G|FMO5_ENST00000465173.1_5'UTR	p.G124G	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			4	760	-	all_hematologic(923;0.0487)		124					B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	c.372C>T	CCDS926.1																																																																																				0.478	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		72	108	0	0	0	1	0	72	108				
CYFIP1	23191	broad.mit.edu	37	15	22990104	22990104	+	Silent	SNP	C	C	T	rs145238748		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22990104C>T	ENST00000313077.7	+	24	2849	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACCGGAACTTCGTGGGACCTC	0.567																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2722-2724)ttC>ttT		cytoplasmic FMR1 interacting protein 1		C	,	0,4406		0,0,2203	103.0	96.0	98.0		1431,2724	-5.3	0.8	15	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CYFIP1	NM_001033028.1,NM_014608.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	477/823,908/1254	22990104	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22990104C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2724C>T	15.37:g.22990104C>T						CYFIP1_ENST00000560848.1_Silent_p.F908F|CYFIP1_ENST00000435939.2_Silent_p.F477F	p.F908F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	24	2849	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	908						Silent	SNP	ENST00000313077.7	37	c.2724C>T	CCDS10009.1																																																																																				0.567	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		52	65	0	0	0	1	0	52	65				
TSSC1	7260	broad.mit.edu	37	2	3200658	3200658	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3200658C>A	ENST00000382125.4	-	6	839	c.647G>T	c.(646-648)aGc>aTc	p.S216I	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Missense_Mutation_p.S243I	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	216										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGACCTCATGCTCCGGGTGTC	0.627																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(727-729)aGc>aTc		tumor suppressing subtransferable candidate 1							87.0	61.0	70.0					2																	3200658		2203	4300	6503	SO:0001583	missense	7260						protein binding	g.chr2:3200658C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.647G>T	2.37:g.3200658C>A	ENSP00000371559:p.Ser216Ile					TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.S216I	p.S243I			Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	7	868	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	216					D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	c.728G>T	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660932	0.67700	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	T;T;T	0.66460	2.36;2.36;-0.21	5.38	0.901	0.19284	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.272209	0.45126	D	0.000381	T	0.68007	0.2954	M	0.70787	2.145	0.80722	D	1	P	0.36010	0.532	B	0.42798	0.398	T	0.69859	-0.5031	10	0.87932	D	0	-13.4052	11.4458	0.50123	0.0:0.5666:0.3581:0.0753	.	216	Q53HC9	TSSC1_HUMAN	I	216;243;65	ENSP00000371559:S216I;ENSP00000381652:S243I;ENSP00000393350:S65I	ENSP00000371559:S216I	S	-	2	0	TSSC1	3179665	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	0.941000	0.29005	0.240000	0.21263	0.655000	0.94253	AGC		0.627	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		4	10	1	0	1	1	1	4	10				
TRDMT1	1787	broad.mit.edu	37	10	17216557	17216557	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17216557G>A	ENST00000377799.3	-	2	214	c.167C>T	c.(166-168)aCg>aTg	p.T56M	TRDMT1_ENST00000358282.7_Missense_Mutation_p.T56M|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.R23*|TRDMT1_ENST00000412821.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000488990.1_Missense_Mutation_p.T56M|TRDMT1_ENST00000377766.5_Missense_Mutation_p.T56M|TRDMT1_ENST00000351358.4_Missense_Mutation_p.T56M	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	56	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	CACTTCAATCGTCTTGGCAAG	0.378																																						ENST00000457442.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(67-69)Cga>Tga		tRNA aspartic acid methyltransferase 1							133.0	117.0	123.0					10																	17216557		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17216557G>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.167C>T	10.37:g.17216557G>A	ENSP00000367030:p.Thr56Met					TRDMT1_ENST00000358282.7_Missense_Mutation_p.T56M|TRDMT1_ENST00000377799.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000377766.5_Missense_Mutation_p.T56M|TRDMT1_ENST00000412821.3_Missense_Mutation_p.T56M|TRDMT1_ENST00000488990.1_Missense_Mutation_p.T56M|TRDMT1_ENST00000351358.4_Missense_Mutation_p.T56M	p.R23*			O14717	TRDMT_HUMAN			2	383	-			0					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Nonsense_Mutation	SNP	ENST00000377799.3	37	c.67C>T	CCDS7114.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.286923|5.286923	0.95517|0.95517	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000457442|ENST00000377799;ENST00000412821;ENST00000351358;ENST00000377766;ENST00000358282;ENST00000488990;ENST00000525762	.|D;D;D;T;T;D;D	.|0.96587	.|-1.83;-1.83;-1.83;0.95;0.95;-4.06;-1.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.151919	.|0.64402	.|D	.|0.000017	.|D	.|0.97592	.|0.9211	M|M	0.62723|0.62723	1.935|1.935	0.48236|0.48236	D|D	0.99961|0.99961	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.993;0.994	.|D;D;P;P	.|0.71184	.|0.966;0.972;0.655;0.689	.|D	.|0.98083	.|1.0405	.|10	0.59425|0.87932	D|D	0.04|0	-12.7603|-12.7603	17.9961|17.9961	0.89184|0.89184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|56;56;56;56	.|B7Z8H2;O14717-3;O14717-2;O14717	.|.;.;.;TRDMT_HUMAN	X|M	23|56;56;56;56;56;56;38	.|ENSP00000367030:T56M;ENSP00000409354:T56M;ENSP00000324328:T56M;ENSP00000366996:T56M;ENSP00000351027:T56M;ENSP00000419625:T56M;ENSP00000431476:T38M	ENSP00000412256:R23X|ENSP00000324328:T56M	R|T	-|-	1|2	2|0	TRDMT1|TRDMT1	17256563|17256563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.215000|0.215000	0.24574|0.24574	7.807000|7.807000	0.86032|0.86032	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	CGA|ACG		0.378	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		26	41	0	0	0	1	0	26	41				
MYO18A	399687	broad.mit.edu	37	17	27493529	27493529	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27493529G>A	ENST00000527372.1	-	2	610	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	MYO18A_ENST00000533112.1_Missense_Mutation_p.R144C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R144C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R144C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	144	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGGCTACGCTGGGAGAAG	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(430-432)Cgt>Tgt		myosin XVIIIA							23.0	28.0	26.0					17																	27493529		2063	4200	6263	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493529G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.430C>T	17.37:g.27493529G>A	ENSP00000437073:p.Arg144Cys					MYO18A_ENST00000354329.4_Missense_Mutation_p.R144C|MYO18A_ENST00000533112.1_Missense_Mutation_p.R144C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R144C	p.R144C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	610	-			144					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.430C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412111	0.62511	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89196	-2.38;-2.48;-2.37;-2.38	5.11	5.11	0.69529	.	0.125411	0.49305	D	0.000142	D	0.84893	0.5573	N	0.19112	0.55	0.45183	D	0.998196	D;D;D	0.69078	0.986;0.994;0.997	P;P;P	0.50708	0.648;0.648;0.543	D	0.86020	0.1506	10	0.62326	D	0.03	.	11.5409	0.50665	0.0:0.0:0.6986:0.3013	.	144;144;144	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	C	144	ENSP00000346291:R144C;ENSP00000435932:R144C;ENSP00000434228:R144C;ENSP00000437073:R144C	ENSP00000346291:R144C	R	-	1	0	MYO18A	24517655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.851000	0.48302	2.660000	0.90430	0.467000	0.42956	CGT		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		13	17	0	0	0	1	0	13	17				
IFT122	55764	broad.mit.edu	37	3	129214427	129214427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129214427C>T	ENST00000348417.2	+	18	2262	c.2185C>T	c.(2185-2187)Ctc>Ttc	p.L729F	IFT122_ENST00000440957.2_Missense_Mutation_p.L520F|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.L618F|IFT122_ENST00000431818.2_Missense_Mutation_p.L579F|IFT122_ENST00000507564.1_Missense_Mutation_p.L721F|IFT122_ENST00000504021.1_Missense_Mutation_p.L605F|IFT122_ENST00000347300.2_Missense_Mutation_p.L670F|IFT122_ENST00000296266.3_Missense_Mutation_p.L780F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	729					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTACACCGACCTCTGCATGTT	0.532																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2338-2340)Ctc>Ttc		intraflagellar transport 122 homolog (Chlamydomonas)							125.0	112.0	116.0					3																	129214427		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129214427C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2185C>T	3.37:g.129214427C>T	ENSP00000324005:p.Leu729Phe					IFT122_ENST00000349441.2_Missense_Mutation_p.L618F|IFT122_ENST00000347300.2_Missense_Mutation_p.L670F|IFT122_ENST00000348417.2_Missense_Mutation_p.L729F|IFT122_ENST00000440957.2_Missense_Mutation_p.L520F|IFT122_ENST00000504021.1_Missense_Mutation_p.L605F|IFT122_ENST00000507564.1_Missense_Mutation_p.L721F|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.L579F	p.L780F	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			19	2530	+			729					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2338C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009061	0.75046	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	D;D;D;D;T;D;D;D;T	0.89343	-2.5;-2.5;-2.5;-2.5;0.43;-2.5;-2.5;-2.5;0.55	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.99;0.999;0.997;0.997;0.997;0.999;0.994;0.997	D	0.95784	0.8819	10	0.87932	D	0	-20.3617	12.3004	0.54870	0.0:0.8776:0.0:0.1224	.	520;721;116;605;569;618;670;729;780	E9PDG2;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;IF122_HUMAN;.	F	670;780;721;670;579;605;618;729;569;520;226;91	ENSP00000323973:L670F;ENSP00000296266:L780F;ENSP00000425536:L721F;ENSP00000410946:L579F;ENSP00000422179:L605F;ENSP00000324165:L618F;ENSP00000324005:L729F;ENSP00000401569:L520F;ENSP00000424727:L226F	ENSP00000296266:L780F	L	+	1	0	IFT122	130697117	1.000000	0.71417	0.993000	0.49108	0.836000	0.47400	2.929000	0.48916	2.607000	0.88179	0.655000	0.94253	CTC		0.532	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		18	18	0	0	0	1	0	18	18				
PCDHB14	56122	broad.mit.edu	37	5	140604449	140604449	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140604449C>A	ENST00000239449.4	+	1	1372	c.1372C>A	c.(1372-1374)Ctg>Atg	p.L458M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L305M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.592																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1372-1374)Ctg>Atg									123.0	125.0	124.0					5																	140604449		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604449C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1372C>A	5.37:g.140604449C>A	ENSP00000239449:p.Leu458Met					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L305M	p.L458M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1372	+			458			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1372C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	6.458	0.452649	0.12283	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01787	4.64;4.64	4.5	2.58	0.30949	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.16037	0.36	0.09310	N	1	P	0.46457	0.878	B	0.43274	0.414	T	0.50303	-0.8844	9	0.30078	T	0.28	.	3.0249	0.06087	0.2713:0.4077:0.2324:0.0887	.	458	Q9Y5E9	PCDBE_HUMAN	M	305;458	ENSP00000444518:L305M;ENSP00000239449:L458M	ENSP00000239449:L458M	L	+	1	2	PCDHB14	140584633	0.000000	0.05858	0.859000	0.33776	0.456000	0.32438	-0.037000	0.12164	0.967000	0.38186	0.556000	0.70494	CTG		0.592	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		18	87	1	0	8.10497e-08	1	8.52441e-08	18	87				
ZBTB20	26137	broad.mit.edu	37	3	114058118	114058118	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:114058118G>A	ENST00000474710.1	-	5	2138	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R581C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	654						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1741-1743)Cgc>Tgc		zinc finger and BTB domain containing 20							201.0	177.0	185.0					3																	114058118		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058118G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1960C>T	3.37:g.114058118G>A	ENSP00000419153:p.Arg654Cys					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C	p.R581C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2562	-			654					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1741C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725321	0.68959	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05937	-1.0855	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	654	Q9HC78	ZBT20_HUMAN	C	581;581;581;581;654;581;581	ENSP00000420324:R581C;ENSP00000377375:R581C;ENSP00000418092:R581C;ENSP00000419902:R581C;ENSP00000419153:R654C;ENSP00000349803:R581C;ENSP00000417307:R581C	ENSP00000349803:R581C	R	-	1	0	ZBTB20	115540808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC		0.552	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		50	76	0	0	0	1	0	50	76				
APOB	338	broad.mit.edu	37	2	21226053	21226053	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:21226053G>T	ENST00000233242.1	-	29	12368	c.12241C>A	c.(12241-12243)Ctt>Att	p.L4081I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4081					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATCATAAAGGACCCCTGTG	0.468																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12241-12243)Ctt>Att		apolipoprotein B	Atorvastatin(DB01076)						169.0	174.0	172.0					2																	21226053		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226053G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12241C>A	2.37:g.21226053G>T	ENSP00000233242:p.Leu4081Ile						p.L4081I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12368	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4081					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12241C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271420	0.23221	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36878	1.23	5.99	-5.56	0.02529	.	0.819939	0.10783	N	0.634631	T	0.17238	0.0414	L	0.32530	0.975	0.23298	N	0.997953	B	0.21071	0.051	B	0.14023	0.01	T	0.22243	-1.0222	10	0.27785	T	0.31	.	0.4217	0.00457	0.3354:0.2065:0.2416:0.2164	.	4081	P04114	APOB_HUMAN	I	4081	ENSP00000233242:L4081I	ENSP00000233242:L4081I	L	-	1	0	APOB	21079558	0.000000	0.05858	0.001000	0.08648	0.410000	0.31052	-1.335000	0.02662	-1.148000	0.02847	-0.126000	0.14955	CTT		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			81	88	1	0	2.37601e-23	1	2.64711e-23	81	88				
RFC1	5981	broad.mit.edu	37	4	39304196	39304196	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39304196G>A	ENST00000381897.1	-	18	2496	c.2363C>T	c.(2362-2364)gCa>gTa	p.A788V	RFC1_ENST00000349703.2_Missense_Mutation_p.A787V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	788					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCTTTAAATGCAATAGACAT	0.308																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2362-2364)gCa>gTa		replication factor C (activator 1) 1, 145kDa																																				SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304196G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2363C>T	4.37:g.39304196G>A	ENSP00000371321:p.Ala788Val					RFC1_ENST00000349703.2_Missense_Mutation_p.A787V	p.A788V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			18	2496	-			788					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2363C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263277	0.95399	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.18810	2.19;2.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.9;0.999	T	0.65191	-0.6228	10	0.62326	D	0.03	-18.9099	20.3334	0.98727	0.0:0.0:1.0:0.0	.	788;787	P35251;P35251-2	RFC1_HUMAN;.	V	788;787	ENSP00000371321:A788V;ENSP00000261424:A787V	ENSP00000261424:A787V	A	-	2	0	RFC1	38980591	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.970000	0.88000	2.818000	0.97014	0.591000	0.81541	GCA		0.308	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		15	20	0	0	0	1	0	15	20				
PCDHA11	56138	broad.mit.edu	37	5	140249998	140249998	+	Missense_Mutation	SNP	C	C	T	rs200037363		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140249998C>T	ENST00000398640.2	+	1	1310	c.1310C>T	c.(1309-1311)aCg>aTg	p.T437M	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTA	0.637																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1309-1311)aCg>aTg									128.0	137.0	134.0					5																	140249998		2203	4300	6503	SO:0001583	missense	0							g.chr5:140249998C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1310C>T	5.37:g.140249998C>T	ENSP00000381636:p.Thr437Met					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.T437M	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1310	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1310C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465220	0.43839	.	.	ENSG00000249158	ENST00000398640	T	0.57107	0.42	5.66	5.66	0.87406	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.74520	0.3727	M	0.86953	2.85	0.09310	N	0.999995	D;D	0.69078	0.993;0.997	P;P	0.57468	0.821;0.77	T	0.69978	-0.4998	9	0.66056	D	0.02	.	19.417	0.94704	0.0:1.0:0.0:0.0	.	437;437	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	437	ENSP00000381636:T437M	ENSP00000381636:T437M	T	+	2	0	PCDHA11	140230182	0.000000	0.05858	0.444000	0.26895	0.598000	0.36846	-0.414000	0.07114	2.676000	0.91093	0.558000	0.71614	ACG		0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		60	85	0	0	0	1	0	60	85				
MYCBP2	23077	broad.mit.edu	37	13	77713379	77713379	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77713379G>A	ENST00000544440.2	-	52	7514	c.7497C>T	c.(7495-7497)tgC>tgT	p.C2499C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.C2499C|MYCBP2_ENST00000407578.2_Silent_p.C2537C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAAAGAGAGGCACCAGGCTT	0.388																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(7609-7611)tgC>tgT		MYC binding protein 2, E3 ubiquitin protein ligase							189.0	165.0	174.0					13																	77713379		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77713379G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7497C>T	13.37:g.77713379G>A						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.C2499C|MYCBP2_ENST00000357337.6_Silent_p.C2499C	p.C2537C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	52	7877	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2499						Silent	SNP	ENST00000544440.2	37	c.7611C>T																																																																																					0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		49	21	0	0	0	1	0	49	21				
GP5	2814	broad.mit.edu	37	3	194117532	194117532	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:194117532G>A	ENST00000401815.1	-	1	1551	c.1480C>T	c.(1480-1482)Cca>Tca	p.P494S	GP5_ENST00000323007.3_Missense_Mutation_p.P494S			P40197	GPV_HUMAN	glycoprotein V (platelet)	494					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCAAGGCTGGGTGGACAGGG	0.697																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1480-1482)Cca>Tca		glycoprotein V (platelet)							49.0	58.0	55.0					3																	194117532		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117532G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1480C>T	3.37:g.194117532G>A	ENSP00000383931:p.Pro494Ser					GP5_ENST00000323007.3_Missense_Mutation_p.P494S	p.P494S			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1551	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	494					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.1480C>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479277	0.26511	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.44482	0.92;0.92	4.25	-3.88	0.04205	.	0.815025	0.10359	N	0.684236	T	0.20414	0.0491	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33007	-0.9885	10	0.07990	T	0.79	.	3.721	0.08456	0.3235:0.0:0.3026:0.3739	.	494	P40197	GPV_HUMAN	S	494	ENSP00000383931:P494S;ENSP00000319286:P494S	ENSP00000319286:P494S	P	-	1	0	GP5	195598821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.951000	0.01529	-0.751000	0.04734	-1.194000	0.01681	CCA		0.697	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		36	40	0	0	0	1	0	36	40				
ITGA8	8516	broad.mit.edu	37	10	15714696	15714696	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15714696C>A	ENST00000378076.3	-	7	1082	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	243					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)			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						TGAGGATATCCTTGAATGAGT	0.423																																						ENST00000378076.3																			0				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						c.(727-729)aaG>aaT		integrin, alpha 8							136.0	129.0	131.0					10																	15714696		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.chr10:15714696C>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.729G>T	10.37:g.15714696C>A	ENSP00000367316:p.Lys243Asn						p.K243N	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			7	1082	-			243					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.729G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786203	0.49997	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.22134	1.97	5.33	1.27	0.21489	.	0.041390	0.85682	D	0.000000	T	0.26557	0.0649	N	0.20986	0.625	0.47778	D	0.999511	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01121	-1.1445	10	0.22109	T	0.4	.	11.2904	0.49247	0.0:0.7385:0.0:0.2615	.	243;243	F5H818;P53708	.;ITA8_HUMAN	N	243	ENSP00000367316:K243N	ENSP00000367316:K243N	K	-	3	2	ITGA8	15754702	0.989000	0.36119	1.000000	0.80357	0.886000	0.51366	0.167000	0.16602	0.306000	0.22856	0.591000	0.81541	AAG		0.423	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		28	37	1	0	2.12542e-12	1	2.29988e-12	28	37				
FBP1	2203	broad.mit.edu	37	9	97380094	97380094	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97380094C>T	ENST00000375326.4	-	3	578	c.382G>A	c.(382-384)Gat>Aat	p.D128N	FBP1_ENST00000415431.1_Missense_Mutation_p.D128N	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	128					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ACAAGGCAATCGATGTTGGAA	0.383																																					Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(382-384)Gat>Aat		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						103.0	86.0	92.0					9																	97380094		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380094C>T	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.382G>A	9.37:g.97380094C>T	ENSP00000364475:p.Asp128Asn					FBP1_ENST00000375326.4_Missense_Mutation_p.D128N	p.D128N	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			4	611	-		Acute lymphoblastic leukemia(62;0.136)	128					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.382G>A	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989234	0.93106	.	.	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.79554	-1.28;-1.28;-1.28	6.01	5.11	0.69529	.	0.042083	0.85682	D	0.000000	D	0.91012	0.7173	M	0.92367	3.3	0.80722	D	1	D	0.63046	0.992	P	0.61874	0.895	D	0.93146	0.6545	10	0.87932	D	0	-36.7106	15.0403	0.71785	0.0:0.9324:0.0:0.0676	.	128	P09467	F16P1_HUMAN	N	128;128;44	ENSP00000364475:D128N;ENSP00000408025:D128N;ENSP00000411619:D44N	ENSP00000364475:D128N	D	-	1	0	FBP1	96419915	1.000000	0.71417	0.381000	0.26106	0.913000	0.54294	7.639000	0.83342	1.558000	0.49541	0.650000	0.86243	GAT		0.383	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		16	35	0	0	0	1	0	16	35				
RCN3	57333	broad.mit.edu	37	19	50031839	50031839	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50031839C>T	ENST00000270645.3	+	2	557	c.110C>T	c.(109-111)gCg>gTg	p.A37V	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	37						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGCACCAGGCGGCCCCCCTG	0.642																																						ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(109-111)gCg>gTg		reticulocalbin 3, EF-hand calcium binding domain							67.0	71.0	69.0					19																	50031839		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031839C>T	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.110C>T	19.37:g.50031839C>T	ENSP00000270645:p.Ala37Val					RCN3_ENST00000593644.1_3'UTR	p.A37V	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	557	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	37					Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.110C>T	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208949	0.58343	.	.	ENSG00000142552	ENST00000270645	T	0.09911	2.93	4.75	-2.55	0.06288	.	0.739381	0.13199	N	0.406109	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.34725	-0.9817	10	0.39692	T	0.17	-15.097	7.54	0.27733	0.4218:0.3333:0.245:0.0	.	37	Q96D15	RCN3_HUMAN	V	37	ENSP00000270645:A37V	ENSP00000270645:A37V	A	+	2	0	RCN3	54723651	0.000000	0.05858	0.995000	0.50966	0.977000	0.68977	-0.230000	0.09083	0.058000	0.16222	0.456000	0.33151	GCG		0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		26	45	0	0	0	1	0	26	45				
MUC5B	727897	broad.mit.edu	37	11	1268453	1268453	+	Missense_Mutation	SNP	C	C	T	rs370339341	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1268453C>T	ENST00000529681.1	+	31	10401	c.10343C>T	c.(10342-10344)cCg>cTg	p.P3448L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3451L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3448	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCAGTGCCGAACACCACG	0.692													-|||	3	0.000599042	0.0008	0.0	5008	,	,		20958	0.002		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10351-10353)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming		C	LEU/PRO	2,4212		0,2,2105	56.0	88.0	77.0		10343	-4.8	0.0	11		77	0,8428		0,0,4214	no	missense	MUC5B	NM_002458.2	98	0,2,6319	TT,TC,CC		0.0,0.0475,0.0158	benign	3448/5763	1268453	2,12640	2107	4214	6321	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268453C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10343C>T	11.37:g.1268453C>T	ENSP00000436812:p.Pro3448Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P3448L|RP11-532E4.2_ENST00000532061.2_RNA	p.P3451L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10410	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3448	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10352C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.937	0.356922	0.11239	4.75E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22336	1.96;2.15	2.65	-4.75	0.03239	.	.	.	.	.	T	0.06234	0.0161	N	0.00801	-1.175	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.41448	-0.9508	9	0.87932	D	0	.	9.7695	0.40580	0.0:0.7689:0.0:0.2311	.	3976;3451	A7Y9J9;E9PBJ0	.;.	L	3448;3451;3420;3353	ENSP00000436812:P3448L;ENSP00000415793:P3451L	ENSP00000343037:P3420L	P	+	2	0	MUC5B	1225029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.305000	0.01133	-1.113000	0.02981	-0.786000	0.03341	CCG		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	19	0	0	0	1	0	5	19				
NLGN4X	57502	broad.mit.edu	37	X	5811651	5811651	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:5811651C>T	ENST00000381095.3	-	6	2285	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R573H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R553H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	553					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCTTCAAAGCGGTTGGGTTT	0.443																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1657-1659)cGc>cAc		neuroligin 4, X-linked							132.0	125.0	127.0					X																	5811651		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811651C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1658G>A	X.37:g.5811651C>T	ENSP00000370485:p.Arg553His					NLGN4X_ENST00000381092.1_Missense_Mutation_p.R553H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R573H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R553H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R553H	p.R553H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2285	-			553					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1658G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075296	0.76415	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.0	4.0	0.46444	Carboxylesterase, type B (1);	0.000000	0.33127	N	0.005255	D	0.82737	0.5102	M	0.85630	2.765	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.97	D	0.86342	0.1705	10	0.87932	D	0	.	14.5624	0.68151	0.0:1.0:0.0:0.0	.	610;553;573	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	553;573;553;553;553	ENSP00000370485:R553H;ENSP00000370483:R573H;ENSP00000275857:R553H;ENSP00000370482:R553H;ENSP00000439203:R553H	ENSP00000275857:R553H	R	-	2	0	NLGN4X	5821651	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.722000	0.74735	1.597000	0.50072	0.513000	0.50165	CGC		0.443	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		30	7	0	0	0	1	0	30	7				
CD9	928	broad.mit.edu	37	12	6342621	6342621	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6342621C>T	ENST00000382518.1	+	5	753	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CD9_ENST00000382515.2_Missense_Mutation_p.A37V|CD9_ENST00000009180.4_Missense_Mutation_p.A106V|CD9_ENST00000481267.1_3'UTR|Y_RNA_ENST00000365448.1_RNA			P21926	CD9_HUMAN	CD9 molecule	106					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAAATAGCTGCGGCCATCTGG	0.542																																						ENST00000382518.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						c.(316-318)gCg>gTg		CD9 molecule							127.0	112.0	117.0					12																	6342621		2203	4300	6503	SO:0001583	missense	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6342621C>T	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.317C>T	12.37:g.6342621C>T	ENSP00000371958:p.Ala106Val					CD9_ENST00000382515.2_Missense_Mutation_p.A37V|CD9_ENST00000009180.4_Missense_Mutation_p.A106V|CD9_ENST00000481267.1_3'UTR	p.A106V			P21926	CD9_HUMAN			5	753	+			106					D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	c.317C>T	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792863	0.70452	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000543424;ENST00000009180;ENST00000382515	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.87	5.87	0.94306	.	0.043935	0.85682	D	0.000000	D	0.86908	0.6046	M	0.69248	2.105	0.80722	D	1	D;P	0.62365	0.991;0.772	P;P	0.58721	0.844;0.537	D	0.85563	0.1229	10	0.40728	T	0.16	.	17.6998	0.88291	0.0:1.0:0.0:0.0	.	106;106	B4DK09;P21926	.;CD9_HUMAN	V	106;106;129;106;19;106;37	ENSP00000371958:A106V;ENSP00000440985:A106V;ENSP00000371959:A129V;ENSP00000009180:A106V;ENSP00000371955:A37V	ENSP00000009180:A106V	A	+	2	0	CD9	6212882	0.999000	0.42202	0.351000	0.25721	0.059000	0.15707	4.183000	0.58317	2.785000	0.95823	0.655000	0.94253	GCG		0.542	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			24	34	0	0	0	1	0	24	34				
MYCT1	80177	broad.mit.edu	37	6	153042909	153042909	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:153042909G>A	ENST00000367245.5	+	2	237	c.229G>A	c.(229-231)Gca>Aca	p.A77T	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	77						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTATCCATGGCAATCGGGCT	0.413																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(229-231)Gca>Aca		myc target 1							147.0	133.0	138.0					6																	153042909		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153042909G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.229G>A	6.37:g.153042909G>A	ENSP00000356214:p.Ala77Thr					MYCT1_ENST00000529453.1_Intron	p.A77T	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	237	+		Ovarian(120;0.0654)	77					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.229G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.460110|4.460110	0.84317|0.84317	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.30714|.	1.52|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.291631|.	0.37483|.	N|.	0.002069|.	T|.	0.60676|.	0.2287|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	P;P|.	0.56398|.	0.797;0.797|.	T|.	0.57539|.	-0.7794|.	10|.	0.29301|.	T|.	0.29|.	-20.3905|-20.3905	16.2942|16.2942	0.82762|0.82762	0.0:0.0:0.8672:0.1328|0.0:0.0:0.8672:0.1328	.|.	29;77|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	T|X	77|57	ENSP00000356214:A77T|.	ENSP00000356214:A77T|.	A|W	+|+	1|3	0|0	MYCT1|MYCT1	153084602|153084602	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	5.165000|5.165000	0.64959|0.64959	2.723000|2.723000	0.93209|0.93209	0.573000|0.573000	0.79308|0.79308	GCA|TGG		0.413	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		39	60	0	0	0	1	0	39	60				
FZD10	11211	broad.mit.edu	37	12	130647904	130647904	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:130647904C>T	ENST00000229030.4	+	1	901	c.417C>T	c.(415-417)aaC>aaT	p.N139N	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Nonsense_Mutation_p.Q107*			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	139	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AACTCCCCAACAAGAACGACC	0.662																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(319-321)Caa>Taa		frizzled family receptor 10							92.0	95.0	94.0					12																	130647904		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647904C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.417C>T	12.37:g.130647904C>T						FZD10_ENST00000229030.4_Silent_p.N139N	p.Q107*	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	901	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0			FZ.			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.319C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	41	8.783492	0.98952	.	.	ENSG00000111432	ENST00000539839	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3619	0.66779	0.1486:0.8514:0.0:0.0	.	.	.	.	X	107	.	ENSP00000438460:Q107X	Q	+	1	0	FZD10	129213857	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.359000	0.34113	2.202000	0.70862	0.561000	0.74099	CAA		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	55	0	0	0	1	0	29	55				
MUC5B	727897	broad.mit.edu	37	11	1256370	1256370	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1256370G>A	ENST00000529681.1	+	22	2744	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V899M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	896	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCACCTGCGTGGCCTACGG	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2695-2697)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							53.0	61.0	58.0					11																	1256370		2110	4217	6327	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256370G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2686G>A	11.37:g.1256370G>A	ENSP00000436812:p.Val896Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V896M	p.V899M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	22	2753	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	896			VWFC 1.|VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.2695G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913177	0.17907	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.61158	0.13;0.13	4.37	1.27	0.21489	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	T	0.60689	0.2288	L	0.37697	1.125	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68621	0.778;0.959;0.959	T	0.47328	-0.9126	9	0.87932	D	0	.	5.4748	0.16690	0.2349:0.0:0.6255:0.1397	.	896;1555;899	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	M	896;899;897;932	ENSP00000436812:V896M;ENSP00000415793:V899M	ENSP00000343037:V897M	V	+	1	0	MUC5B	1212946	0.000000	0.05858	0.008000	0.14137	0.771000	0.43674	0.469000	0.22067	0.486000	0.27676	0.555000	0.69702	GTG		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		14	16	0	0	0	1	0	14	16				
CAMK2D	817	broad.mit.edu	37	4	114530360	114530360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114530360G>A	ENST00000342666.5	-	4	222	c.223C>T	c.(223-225)Cga>Tga	p.R75*	CAMK2D_ENST00000508738.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394526.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394522.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000418639.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000514328.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394524.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000429180.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000296402.5_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000511664.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000515496.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000454265.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000505990.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000379773.2_Nonsense_Mutation_p.R75*			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCATGAAGTCGCACTAGAAAA	0.348																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(223-225)Cga>Tga		calcium/calmodulin-dependent protein kinase II delta							56.0	56.0	56.0					4																	114530360		2203	4298	6501	SO:0001587	stop_gained	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114530360G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.223C>T	4.37:g.114530360G>A	ENSP00000339740:p.Arg75*					CAMK2D_ENST00000429180.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000511664.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000508738.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000342666.5_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000379773.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394526.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394522.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000505990.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000515496.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000418639.2_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000514328.1_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000394524.3_Nonsense_Mutation_p.R75*|CAMK2D_ENST00000296402.5_Nonsense_Mutation_p.R75*	p.R75*			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	4	1081	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	75			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Nonsense_Mutation	SNP	ENST00000342666.5	37	c.223C>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	44	11.036930	0.99507	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	.	.	.	5.32	1.88	0.25563	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3782	0.66892	0.0:0.0:0.6654:0.3346	.	.	.	.	X	75	.	ENSP00000296402:R75X	R	-	1	2	CAMK2D	114749809	0.998000	0.40836	0.998000	0.56505	0.907000	0.53573	1.530000	0.36007	0.465000	0.27167	0.591000	0.81541	CGA		0.348	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			18	37	0	0	0	1	0	18	37				
LYPLA2	11313	broad.mit.edu	37	1	24120858	24120858	+	Intron	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24120858C>A	ENST00000374514.3	+	8	778				LYPLA2_ENST00000374501.1_Intron|LYPLA2_ENST00000400061.1_Intron|LYPLA2_ENST00000495365.1_Intron|LYPLA2_ENST00000374503.3_Intron|LYPLA2_ENST00000374502.3_Missense_Mutation_p.L172I|LYPLA2_ENST00000374505.2_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGTCTGCATCCTCGTGGCTTG	0.642																																						ENST00000374502.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(514-516)Ctc>Atc		lysophospholipase II							17.0	19.0	18.0					1																	24120858		2202	4298	6500	SO:0001627	intron_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24120858C>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.471+43C>A	1.37:g.24120858C>A						LYPLA2_ENST00000374501.1_Intron|LYPLA2_ENST00000374514.3_Intron|LYPLA2_ENST00000400061.1_Intron|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374503.3_Intron|LYPLA2_ENST00000495365.1_Intron	p.L172I			O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	8	570	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	0					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.514C>A	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	5.685	0.310996	0.10733	.	.	ENSG00000011009	ENST00000374502	T	0.33654	1.4	4.51	3.59	0.41128	.	.	.	.	.	T	0.33000	0.0848	.	.	.	0.27119	N	0.962183	.	.	.	.	.	.	T	0.14117	-1.0484	5	.	.	.	.	9.5288	0.39180	0.0:0.8946:0.0:0.1054	.	.	.	.	I	172	ENSP00000363626:L172I	.	L	+	1	0	LYPLA2	23993445	0.004000	0.15560	0.427000	0.26684	0.338000	0.28826	1.361000	0.34136	2.056000	0.61249	0.448000	0.29417	CTC		0.642	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			10	15	1	0	2.74318e-10	1	2.93027e-10	10	15				
OR10K1	391109	broad.mit.edu	37	1	158435852	158435852	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158435852C>A	ENST00000289451.2	+	1	581	c.501C>A	c.(499-501)ccC>ccA	p.P167P		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCATCTGCCCTTCCACTCCT	0.537																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(499-501)ccC>ccA		olfactory receptor, family 10, subfamily K, member 1							218.0	209.0	212.0					1																	158435852		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435852C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.501C>A	1.37:g.158435852C>A							p.P167P	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	581	+	all_hematologic(112;0.0378)		167					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.501C>A	CCDS30897.1																																																																																				0.537	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			15	105	1	0	1.15088e-07	1	1.20771e-07	15	105				
OPN3	23596	broad.mit.edu	37	1	241767867	241767867	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767867C>T	ENST00000366554.2	-	2	494	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	130					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTAGGGTGGCAATGGAAACA	0.498																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(388-390)Gcc>Acc		opsin 3							53.0	53.0	53.0					1																	241767867		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767867C>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.388G>A	1.37:g.241767867C>T	ENSP00000355512:p.Ala130Thr					OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	p.A130T	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	494	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	130					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.388G>A	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344212	0.41498	.	.	ENSG00000054277	ENST00000366554	T	0.37752	1.18	5.24	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.156369	0.56097	N	0.000034	T	0.12817	0.0311	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07443	-1.0772	10	0.29301	T	0.29	.	3.4765	0.07586	0.166:0.1859:0.0:0.6481	.	130	Q9H1Y3	OPN3_HUMAN	T	130	ENSP00000355512:A130T	ENSP00000355512:A130T	A	-	1	0	OPN3	239834490	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	2.208000	0.42797	0.333000	0.23563	0.650000	0.86243	GCC		0.498	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		8	12	0	0	0	1	0	8	12				
TOB1	10140	broad.mit.edu	37	17	48940438	48940438	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48940438C>T	ENST00000268957.3	-	3	1369	c.941G>A	c.(940-942)gGa>gAa	p.G314E	TOB1_ENST00000499247.2_Missense_Mutation_p.G314E|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	314					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATTGAGGCCTCCATAGGCTGC	0.423																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(940-942)gGa>gAa		transducer of ERBB2, 1							66.0	67.0	67.0					17																	48940438		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940438C>T	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.941G>A	17.37:g.48940438C>T	ENSP00000268957:p.Gly314Glu					TOB1_ENST00000268957.3_Missense_Mutation_p.G314E	p.G314E	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1374	-			314					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.941G>A	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556232	0.65425	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.51574	0.7;0.7	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72523	-0.4267	10	0.72032	D	0.01	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	314	P50616	TOB1_HUMAN	E	314	ENSP00000427695:G314E;ENSP00000268957:G314E	ENSP00000268957:G314E	G	-	2	0	TOB1	46295437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.764000	0.94973	0.650000	0.86243	GGA		0.423	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			23	31	0	0	0	1	0	23	31				
F10	2159	broad.mit.edu	37	13	113803437	113803437	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113803437C>T	ENST00000375559.3	+	8	1111	c.1073C>T	c.(1072-1074)aCg>aTg	p.T358M	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	358	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> M (in FA10D; Roma). {ECO:0000269|PubMed:10746568}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACGCAGAAGACGGGGATTGTG	0.662																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CM940381	F10	M		c.(1072-1074)aCg>aTg		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	50.0	53.0					13																	113803437		2203	4299	6502	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803437C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1073C>T	13.37:g.113803437C>T	ENSP00000364709:p.Thr358Met					F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	p.T358M	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1111	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	358		T -> M (in FA10D; Roma).	Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1073C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380438	0.24944	.	.	ENSG00000126218	ENST00000375559	D	0.89810	-2.57	5.25	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.811066	0.10910	N	0.620654	D	0.87904	0.6295	L	0.41906	1.305	0.09310	N	1	D	0.61697	0.99	P	0.59221	0.854	T	0.75858	-0.3169	10	0.40728	T	0.16	.	2.9041	0.05715	0.1238:0.5491:0.1205:0.2067	.	358	P00742	FA10_HUMAN	M	358	ENSP00000364709:T358M	ENSP00000364709:T358M	T	+	2	0	F10	112851438	0.000000	0.05858	0.043000	0.18650	0.038000	0.13279	0.311000	0.19380	0.576000	0.29452	-0.251000	0.11542	ACG		0.662	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			10	21	0	0	0	1	0	10	21				
ANKRD13B	124930	broad.mit.edu	37	17	27939517	27939517	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27939517C>T	ENST00000394859.3	+	12	1510	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	452	Ser-rich.					endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCCCAGCAGCGAGACGCCTT	0.682																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1354-1356)agC>agT		ankyrin repeat domain 13B							22.0	23.0	23.0					17																	27939517		2196	4292	6488	SO:0001819	synonymous_variant	124930							g.chr17:27939517C>T	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1356C>T	17.37:g.27939517C>T						RP11-68I3.2_ENST00000581474.1_RNA	p.S452S	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			12	1510	+			452			Ser-rich.		Q8N7S9	Silent	SNP	ENST00000394859.3	37	c.1356C>T	CCDS11251.1																																																																																				0.682	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		2	0	0	0	0	1	0	2	0				
RADIL	55698	broad.mit.edu	37	7	4917279	4917279	+	Silent	SNP	G	G	A	rs192745293	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4917279G>A	ENST00000399583.3	-	2	679	c.492C>T	c.(490-492)gaC>gaT	p.D164D	RADIL_ENST00000536091.1_Silent_p.D164D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	164	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCCTCCACGTCCGACCTCT	0.597													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17871	0.0		0.001	False		,,,				2504	0.0					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(490-492)gaC>gaT		Ras association and DIL domains		G		0,4150		0,0,2075	59.0	72.0	67.0		492	-4.2	0.8	7		67	1,8397		0,1,4198	no	coding-synonymous	RADIL	NM_018059.4		0,1,6273	AA,AG,GG		0.0119,0.0,0.0080		164/1076	4917279	1,12547	2075	4199	6274	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917279G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.492C>T	7.37:g.4917279G>A						RADIL_ENST00000536091.1_Silent_p.D164D	p.D164D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	679	-		Ovarian(82;0.0175)	164			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.492C>T	CCDS43544.1																																																																																				0.597	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		8	19	0	0	0	1	0	8	19				
RPGR	6103	broad.mit.edu	37	X	38147244	38147244	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38147244G>A	ENST00000339363.3	-	14	1790	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	RPGR_ENST00000342811.3_Silent_p.N541N|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Silent_p.N541N|RPGR_ENST00000309513.3_Silent_p.N479N|RPGR_ENST00000378505.2_Silent_p.N541N|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	541	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACTATCATCGTTTTCAGTAA	0.358																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1621-1623)aaC>aaT		retinitis pigmentosa GTPase regulator							226.0	180.0	196.0					X																	38147244		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38147244G>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1623C>T	X.37:g.38147244G>A						RPGR_ENST00000309513.3_Silent_p.N479N|RPGR_ENST00000342811.3_Silent_p.N541N|RPGR_ENST00000339363.3_Silent_p.N541N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Silent_p.N541N	p.N541N	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			14	1799	-			541			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.1623C>T																																																																																					0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		40	11	0	0	0	1	0	40	11				
RGMB	285704	broad.mit.edu	37	5	98128863	98128863	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98128863G>A	ENST00000513185.1	+	3	1156	c.720G>A	c.(718-720)ccG>ccA	p.P240P	RGMB_ENST00000308234.7_Silent_p.P281P			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	240					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATGACCTGCCGGCCGCCTTTG	0.542																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(841-843)ccG>ccA		repulsive guidance molecule family member b							44.0	45.0	44.0					5																	98128863		2056	4195	6251	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98128863G>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.720G>A	5.37:g.98128863G>A						RGMB_ENST00000513185.1_Silent_p.P240P	p.P281P	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1245	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	240					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.843G>A																																																																																					0.542	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		10	8	0	0	0	1	0	10	8				
ZNF814	730051	broad.mit.edu	37	19	58384980	58384980	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58384980C>T	ENST00000435989.2	-	3	2012	c.1778G>A	c.(1777-1779)aGc>aAc	p.S593N	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	593					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GCGCTGATGGCTCCTAAGGTG	0.478																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1777-1779)aGc>aAc		zinc finger protein 814							95.0	77.0	83.0					19																	58384980		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384980C>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1778G>A	19.37:g.58384980C>T	ENSP00000410545:p.Ser593Asn					ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	p.S593N	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2012	-			593					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1778G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	4.196	0.035084	0.08148	.	.	ENSG00000204514	ENST00000435989	T	0.07327	3.2	2.02	-2.78	0.05859	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.35593	1.075	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.45963	-0.9225	9	0.17832	T	0.49	.	3.2781	0.06906	0.4804:0.1452:0.0:0.3744	.	593	B7Z6K7	ZN814_HUMAN	N	593	ENSP00000410545:S593N	ENSP00000410545:S593N	S	-	2	0	ZNF814	63076792	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-1.310000	0.02725	-0.345000	0.08325	0.305000	0.20034	AGC		0.478	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		14	15	0	0	0	1	0	14	15				
SPATA20	64847	broad.mit.edu	37	17	48628950	48628950	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48628950C>T	ENST00000356488.4	+	12	1690	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.A552V|SPATA20_ENST00000393244.3_Missense_Mutation_p.A492V	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	536					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACCAATGGTGCCAAGTTCCTG	0.602																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1654-1656)gCc>gTc		spermatogenesis associated 20							88.0	72.0	78.0					17																	48628950		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628950C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1607C>T	17.37:g.48628950C>T	ENSP00000348878:p.Ala536Val					SPATA20_ENST00000356488.4_Missense_Mutation_p.A536V|SPATA20_ENST00000393244.3_Missense_Mutation_p.A492V|SPATA20_ENST00000511937.1_3'UTR	p.A552V	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		13	1775	+	Breast(11;1.23e-18)		536					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1655C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989915	0.93106	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.41758	0.99;0.99;0.99	5.39	5.39	0.77823	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.053941	0.64402	D	0.000001	T	0.51941	0.1704	L	0.58428	1.81	0.80722	D	1	P;P	0.47106	0.89;0.87	B;P	0.49477	0.408;0.612	T	0.46610	-0.9179	10	0.36615	T	0.2	-16.1375	19.158	0.93518	0.0:1.0:0.0:0.0	.	536;552	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	V	552;536;492	ENSP00000006658:A552V;ENSP00000348878:A536V;ENSP00000376935:A492V	ENSP00000006658:A552V	A	+	2	0	SPATA20	45983949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.797000	0.62503	2.538000	0.85594	0.561000	0.74099	GCC		0.602	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		30	34	0	0	0	1	0	30	34				
OR10J1	26476	broad.mit.edu	37	1	159410002	159410002	+	Missense_Mutation	SNP	C	C	T	rs139843472	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159410002C>T	ENST00000423932.3	+	1	491	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	152					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAAGAGGCTGCGTATCCAACT	0.498													c|||	9	0.00179712	0.0008	0.0	5008	,	,		22841	0.0		0.0	False		,,,				2504	0.0082					ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(454-456)Cgt>Tgt		olfactory receptor, family 10, subfamily J, member 1							128.0	122.0	124.0					1																	159410002		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410002C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.454C>T	1.37:g.159410002C>T	ENSP00000399078:p.Arg152Cys					RP11-550P17.5_ENST00000431862.1_RNA	p.R152C	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	491	+	all_hematologic(112;0.0429)		152					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.454C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.107859	0.00033	.	.	ENSG00000196184	ENST00000423932	T	0.34275	1.37	4.58	0.683	0.17998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	N	0.000393	T	0.01092	0.0036	N	0.00018	-2.815	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	9.5971	0.39580	0.0:0.1681:0.0:0.8319	.	152	P30954	O10J1_HUMAN	C	152	ENSP00000399078:R152C	ENSP00000399078:R152C	R	+	1	0	OR10J1	157676626	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.160000	0.16462	0.040000	0.15660	-1.088000	0.02184	CGT		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		50	73	0	0	0	1	0	50	73				
PIK3R6	146850	broad.mit.edu	37	17	8742973	8742973	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8742973G>A	ENST00000311434.9	-	3	294	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	19					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTGAGCTCCCGGAGCACAGCC	0.647																																						ENST00000311434.9																			0											c.(55-57)Cgg>Tgg		phosphoinositide-3-kinase, regulatory subunit 6							16.0	18.0	17.0					17																	8742973		1974	4154	6128	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8742973G>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.55C>T	17.37:g.8742973G>A	ENSP00000475670:p.Arg19Trp					PIK3R6_ENST00000434064.2_5'UTR	p.R19W	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			3	294	-			19					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.55C>T																																																																																					0.647	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		4	2	0	0	0	1	0	4	2				
HOXC4	3221	broad.mit.edu	37	12	54448817	54448817	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54448817G>A	ENST00000430889.2	+	2	669	c.623G>A	c.(622-624)cGc>cAc	p.R208H	HOXC4_ENST00000609810.1_Missense_Mutation_p.R208H|HOXC4_ENST00000303406.4_Missense_Mutation_p.R208H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	208					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAAAACCGTCGCATGAAATGG	0.587																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(622-624)cGc>cAc		homeobox C4							34.0	33.0	33.0					12																	54448817		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448817G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.623G>A	12.37:g.54448817G>A	ENSP00000399808:p.Arg208His					HOXC4_ENST00000303406.4_Missense_Mutation_p.R208H	p.R208H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	669	+			208						Missense_Mutation	SNP	ENST00000430889.2	37	c.623G>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521244	0.64747	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.99158	-5.5;-5.5	3.38	3.38	0.38709	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.99985	5.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96348	0.9256	10	0.87932	D	0	.	14.0521	0.64745	0.0:0.0:1.0:0.0	.	208	P09017	HXC4_HUMAN	H	208	ENSP00000305973:R208H;ENSP00000399808:R208H	ENSP00000305973:R208H	R	+	2	0	HOXC4	52735084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	1.904000	0.55121	0.448000	0.29417	CGC		0.587	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			9	11	0	0	0	1	0	9	11				
LRRC16B	90668	broad.mit.edu	37	14	24532006	24532006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24532006G>A	ENST00000342740.5	+	29	2811	c.2657G>A	c.(2656-2658)cGg>cAg	p.R886Q	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	886						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCCGAGGCCGGAACCATGAC	0.632																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2656-2658)cGg>cAg		leucine rich repeat containing 16B							104.0	114.0	111.0					14																	24532006		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532006G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2657G>A	14.37:g.24532006G>A	ENSP00000340467:p.Arg886Gln					LRRC16B_ENST00000334420.7_5'UTR	p.R886Q	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	29	2811	+			886					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2657G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641376	0.67244	.	.	ENSG00000186648	ENST00000342740	T	0.16196	2.36	5.37	4.48	0.54585	.	0.000000	0.43110	D	0.000611	T	0.11110	0.0271	L	0.40543	1.245	0.80722	D	1	P	0.44006	0.824	B	0.30029	0.11	T	0.09596	-1.0667	10	0.38643	T	0.18	-14.0294	10.1367	0.42710	0.0927:0.0:0.9073:0.0	.	886	Q8ND23	LR16B_HUMAN	Q	886	ENSP00000340467:R886Q	ENSP00000340467:R886Q	R	+	2	0	LRRC16B	23601846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.728000	0.54991	1.260000	0.44134	0.561000	0.74099	CGG		0.632	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		18	20	0	0	0	1	0	18	20				
NRXN3	9369	broad.mit.edu	37	14	79933569	79933569	+	Missense_Mutation	SNP	G	G	A	rs373319691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:79933569G>A	ENST00000557594.1	+	2	1206	c.253G>A	c.(253-255)Gct>Act	p.A85T	NRXN3_ENST00000428277.2_Missense_Mutation_p.A85T|NRXN3_ENST00000281127.7_Missense_Mutation_p.A85T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.A717T|NRXN3_ENST00000335750.5_Missense_Mutation_p.A717T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	85	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCAGCTGGCGCTACGTACAT	0.557																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(253-255)Gct>Act		neurexin 3							118.0	86.0	97.0					14																	79933569		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933569G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.253G>A	14.37:g.79933569G>A	ENSP00000451672:p.Ala85Thr					NRXN3_ENST00000335750.5_Missense_Mutation_p.A717T|NRXN3_ENST00000554719.1_Missense_Mutation_p.A717T|NRXN3_ENST00000557594.1_Missense_Mutation_p.A85T|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.A85T	p.A85T	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2	1132	+		Renal(4;0.00876)	85			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.253G>A		.	.	.	.	.	.	.	.	.	.	G	9.638	1.138311	0.21123	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78364	-1.17;-1.17;1.15;1.15;1.15	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.055635	0.64402	D	0.000001	T	0.47395	0.1443	N	0.00453	-1.485	0.54753	D	0.999986	B;B;B;B	0.26975	0.005;0.165;0.019;0.001	B;B;B;B	0.17979	0.006;0.02;0.005;0.001	T	0.57207	-0.7851	9	.	.	.	.	20.103	0.97881	0.0:0.0:1.0:0.0	.	85;85;85;717	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	T	1090;1079;717;717;85;85;85	ENSP00000451648:A717T;ENSP00000338349:A717T;ENSP00000451672:A85T;ENSP00000281127:A85T;ENSP00000394426:A85T	.	A	+	1	0	NRXN3	79003322	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	5.980000	0.70516	2.738000	0.93877	0.655000	0.94253	GCT		0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		12	19	0	0	0	1	0	12	19				
SOGA3	387104	broad.mit.edu	37	6	127797548	127797548	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127797548C>A	ENST00000525778.1	-	6	2368	c.1623G>T	c.(1621-1623)aaG>aaT	p.K541N	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Missense_Mutation_p.K541N|SOGA3_ENST00000465909.2_Missense_Mutation_p.K541N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K541N|SOGA3_ENST00000481848.2_Missense_Mutation_p.K541N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	541					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGGCCATTTTCTTTCTCATCA	0.443																																						ENST00000556132.1																			0											c.(1621-1623)aaG>aaT		SOGA family member 3							97.0	93.0	94.0					6																	127797548		1859	4101	5960	SO:0001583	missense	387104					integral to membrane		g.chr6:127797548C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1623G>T	6.37:g.127797548C>A	ENSP00000434570:p.Lys541Asn					SOGA3_ENST00000481848.2_Missense_Mutation_p.K541N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K541N|SOGA3_ENST00000525778.1_Missense_Mutation_p.K541N|SOGA3_ENST00000465909.2_Missense_Mutation_p.K541N	p.K541N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2487	-			541						Missense_Mutation	SNP	ENST00000525778.1	37	c.1623G>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975794	0.53720	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.59436	1.845	0.53688	D	0.999975	D	0.76494	0.999	D	0.79108	0.992	T	0.12066	-1.0562	10	0.62326	D	0.03	-29.7902	13.706	0.62639	0.0:0.9265:0.0:0.0735	.	541	Q5TF21	CF174_HUMAN	N	541	ENSP00000451768:K541N;ENSP00000357251:K541N;ENSP00000434570:K541N;ENSP00000435559:K541N	ENSP00000435559:K541N	K	-	3	2	C6orf174	127839241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.774000	0.38573	2.613000	0.88420	0.561000	0.74099	AAG		0.443	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		31	76	1	0	9.80977e-26	1	1.09576e-25	31	76				
MUC5B	727897	broad.mit.edu	37	11	1247968	1247968	+	Missense_Mutation	SNP	G	G	A	rs376119692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1247968G>A	ENST00000529681.1	+	4	381	c.323G>A	c.(322-324)cGc>cAc	p.R108H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R108H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	108	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGCACTGCCGCGCCGCCTAC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(322-324)cGc>cAc		mucin 5B, oligomeric mucus/gel-forming		G	HIS/ARG	1,4277		0,1,2138	38.0	41.0	40.0		323	1.6	0.4	11		40	0,8502		0,0,4251	no	missense	MUC5B	NM_002458.2	29	0,1,6389	AA,AG,GG		0.0,0.0234,0.0078	benign	108/5763	1247968	1,12779	2139	4251	6390	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1247968G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.323G>A	11.37:g.1247968G>A	ENSP00000436812:p.Arg108His					MUC5B_ENST00000529681.1_Missense_Mutation_p.R108H	p.R108H			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	381	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	108			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.323G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.397	0.631887	0.14322	2.34E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59083	0.29;0.29	3.68	1.65	0.23941	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.32255	0.0823	N	0.11131	0.1	0.09310	N	1	B;B;B	0.27732	0.011;0.187;0.187	B;B;B	0.22753	0.004;0.025;0.041	T	0.23297	-1.0192	9	0.87932	D	0	.	3.2351	0.06762	0.3274:0.2278:0.4448:0.0	.	108;764;108	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	108;108;108;141	ENSP00000436812:R108H;ENSP00000415793:R108H	ENSP00000343037:R108H	R	+	2	0	MUC5B	1204544	0.002000	0.14202	0.396000	0.26296	0.266000	0.26442	0.806000	0.27126	0.720000	0.32209	0.561000	0.74099	CGC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	16	0	0	0	1	0	8	16				
MUC16	94025	broad.mit.edu	37	19	9066188	9066188	+	Silent	SNP	G	G	A	rs553857189	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9066188G>A	ENST00000397910.4	-	3	21461	c.21258C>T	c.(21256-21258)agC>agT	p.S7086S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7088	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGGGAGAGCTTTGCCATG	0.498													G|||	4	0.000798722	0.0	0.0	5008	,	,		20100	0.0		0.0	False		,,,				2504	0.0041					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21256-21258)agC>agT		mucin 16, cell surface associated							142.0	144.0	143.0					19																	9066188		2017	4170	6187	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066188G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21258C>T	19.37:g.9066188G>A							p.S7086S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21461	-			7088			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21258C>T	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	17	0	0	0	1	0	18	17				
SRCAP	10847	broad.mit.edu	37	16	30748453	30748453	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30748453G>A	ENST00000262518.4	+	34	7477	c.7092G>A	c.(7090-7092)ccG>ccA	p.P2364P	SRCAP_ENST00000344771.4_Silent_p.P2206P|SRCAP_ENST00000395059.2_Silent_p.P2302P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2364					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAGGGGCCGGGGGCTGGGG	0.637																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7090-7092)ccG>ccA		Snf2-related CREBBP activator protein							33.0	36.0	35.0					16																	30748453		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748453G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7092G>A	16.37:g.30748453G>A						SRCAP_ENST00000344771.4_Silent_p.P2206P|SRCAP_ENST00000395059.2_Silent_p.P2302P	p.P2364P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7477	+			2364					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.7092G>A	CCDS10689.2																																																																																				0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	19	0	0	0	1	0	11	19				
SPEN	23013	broad.mit.edu	37	1	16262309	16262309	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16262309C>T	ENST00000375759.3	+	11	9778	c.9574C>T	c.(9574-9576)Cca>Tca	p.P3192S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTATACTGTGCCACGGGATGT	0.602																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9574-9576)Cca>Tca		spen family transcriptional repressor							74.0	67.0	69.0					1																	16262309		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262309C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9574C>T	1.37:g.16262309C>T	ENSP00000364912:p.Pro3192Ser						p.P3192S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9778	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3192					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9574C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388678	0.42308	.	.	ENSG00000065526	ENST00000375759	T	0.09163	3.01	5.12	5.12	0.69794	.	.	.	.	.	T	0.25457	0.0619	L	0.50919	1.6	0.42919	D	0.994284	D	0.59357	0.985	P	0.61201	0.885	T	0.00928	-1.1511	9	0.27785	T	0.31	-12.3551	18.6276	0.91347	0.0:1.0:0.0:0.0	.	3192	Q96T58	MINT_HUMAN	S	3192	ENSP00000364912:P3192S	ENSP00000364912:P3192S	P	+	1	0	SPEN	16134896	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.905000	0.56333	2.386000	0.81285	0.650000	0.86243	CCA		0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	47	0	0	0	1	0	8	47				
ZFP36L2	678	broad.mit.edu	37	2	43452332	43452332	+	Missense_Mutation	SNP	C	C	T	rs397823004	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43452332C>T	ENST00000282388.3	-	2	904	c.611G>A	c.(610-612)gGc>gAc	p.G204D	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	204	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGGCAGAAGCCGATGGTATG	0.677																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(610-612)gGc>gAc		ZFP36 ring finger protein-like 2							28.0	27.0	27.0					2																	43452332		2203	4300	6503	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452332C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.611G>A	2.37:g.43452332C>T	ENSP00000282388:p.Gly204Asp					THADA_ENST00000330266.7_Intron	p.G204D	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	904	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	204			RNA-binding.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.611G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406401	0.62399	.	.	ENSG00000152518	ENST00000282388	T	0.76709	-1.04	4.54	4.54	0.55810	Zinc finger, CCCH-type (3);	0.058219	0.64402	D	0.000002	D	0.90256	0.6953	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92778	0.6238	10	0.87932	D	0	-27.1856	16.1272	0.81404	0.0:1.0:0.0:0.0	.	204	P47974	TISD_HUMAN	D	204	ENSP00000282388:G204D	ENSP00000282388:G204D	G	-	2	0	ZFP36L2	43305836	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.355000	0.79434	2.083000	0.62718	0.555000	0.69702	GGC		0.677	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		8	13	0	0	0	1	0	8	13				
PRRC1	133619	broad.mit.edu	37	5	126883555	126883555	+	Missense_Mutation	SNP	G	G	A	rs139023434		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126883555G>A	ENST00000296666.8	+	8	1258	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.G357D|PRRC1_ENST00000442138.2_Missense_Mutation_p.G357D	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	357						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CCTGTCCATGGCATTCATCTA	0.383																																						ENST00000442138.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1069-1071)gGc>gAc		proline-rich coiled-coil 1							205.0	190.0	195.0					5																	126883555		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126883555G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1070G>A	5.37:g.126883555G>A	ENSP00000296666:p.Gly357Asp					PRRC1_ENST00000512635.2_Missense_Mutation_p.G357D|PRRC1_ENST00000296666.8_Missense_Mutation_p.G357D|PRRC1_ENST00000513427.1_3'UTR	p.G357D			Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1216	+		Prostate(80;0.165)	357					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1070G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029007	0.54790	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.27	3.43	0.39272	.	0.103466	0.64402	D	0.000003	T	0.47764	0.1463	L	0.43152	1.355	0.53688	D	0.999973	B;B	0.30146	0.123;0.27	B;B	0.29785	0.084;0.107	T	0.51092	-0.8749	9	0.52906	T	0.07	-10.2001	10.5354	0.45000	0.0737:0.133:0.7933:0.0	.	357;357	Q96M27;Q96M27-5	PRRC1_HUMAN;.	D	357	.	ENSP00000296666:G357D	G	+	2	0	PRRC1	126911454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.386000	0.66238	1.425000	0.47237	0.650000	0.86243	GGC		0.383	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		14	40	0	0	0	1	0	14	40				
ILF2	3608	broad.mit.edu	37	1	153635494	153635494	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153635494C>T	ENST00000361891.4	-	12	1047		c.e12+1		ILF2_ENST00000480213.1_Splice_Site	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCCCAATACCTGCTGTTCT	0.493																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.e12+1		interleukin enhancer binding factor 2							79.0	76.0	77.0					1																	153635494		2203	4300	6503	SO:0001630	splice_region_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635494C>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.921+1G>A	1.37:g.153635494C>T						ILF2_ENST00000480213.1_Splice_Site		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		12	1047	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Splice_Site	SNP	ENST00000361891.4	37		CCDS1050.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751527	0.69533	.	.	ENSG00000143621	ENST00000361891	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0123	0.64505	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ILF2	151902118	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.534000	0.73833	2.687000	0.91594	0.563000	0.77884	.		0.493	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515	Intron	13	21	0	0	0	1	0	13	21				
ZNF583	147949	broad.mit.edu	37	19	56935181	56935181	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56935181G>A	ENST00000333201.9	+	5	1364	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.C385Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTAAGGAATGTAGGAAAGCC	0.418																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1153-1155)tGt>tAt		zinc finger protein 583							88.0	89.0	88.0					19																	56935181		2203	4299	6502	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935181G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1154G>A	19.37:g.56935181G>A	ENSP00000388502:p.Cys385Tyr					ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.C385Y	p.C385Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1364	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	385					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1154G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198502	0.79015	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	D;D	0.85861	-2.04;-2.04	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000265	D	0.94338	0.8180	H	0.94808	3.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95825	0.8853	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	385	Q96ND8	ZN583_HUMAN	Y	385	ENSP00000291598:C385Y;ENSP00000388502:C385Y	.	C	+	2	0	ZNF583	61626993	1.000000	0.71417	0.942000	0.38095	0.994000	0.84299	9.392000	0.97252	2.415000	0.81967	0.462000	0.41574	TGT		0.418	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		24	39	0	0	0	1	0	24	39				
HK1	3098	broad.mit.edu	37	10	71055391	71055391	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71055391T>C	ENST00000448642.2	+	6	512	c.123T>C	c.(121-123)gcT>gcC	p.A41A	HK1_ENST00000404387.2_Silent_p.A10A|HK1_ENST00000360289.2_5'UTR			P19367	HXK1_HUMAN	hexokinase 1	0	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCTCTAAGGCTACAGCAGCTG	0.323																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(121-123)gcT>gcC		hexokinase 1							136.0	121.0	126.0					10																	71055391		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71055391T>C	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000448642.2:c.123T>C	10.37:g.71055391T>C						HK1_ENST00000404387.2_Silent_p.A10A|HK1_ENST00000360289.2_5'UTR	p.A41A			P19367	HXK1_HUMAN			6	512	+			0			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000448642.2	37	c.123T>C																																																																																					0.323	HK1-204	KNOWN	basic	protein_coding	protein_coding		NM_000188		7	56	0	0	0	1	0	7	56				
FRS3	10817	broad.mit.edu	37	6	41738969	41738969	+	Silent	SNP	G	G	A	rs528174551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41738969G>A	ENST00000373018.3	-	7	1118	c.867C>T	c.(865-867)aaC>aaT	p.N289N	FRS3_ENST00000259748.2_Silent_p.N289N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	289					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCGGTGACGTTCTCGTAGG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15163	0.001		0.0	False		,,,				2504	0.0					ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(865-867)aaC>aaT		fibroblast growth factor receptor substrate 3							55.0	51.0	53.0					6																	41738969		2203	4300	6503	SO:0001819	synonymous_variant	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738969G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.867C>T	6.37:g.41738969G>A						FRS3_ENST00000259748.2_Silent_p.N289N	p.N289N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1118	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		289					Q5T3D5	Silent	SNP	ENST00000373018.3	37	c.867C>T	CCDS4860.1																																																																																				0.662	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		12	20	0	0	0	1	0	12	20				
RRM2	6241	broad.mit.edu	37	2	10267220	10267220	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10267220G>A	ENST00000304567.5	+	7	740	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RRM2_ENST00000360566.2_Missense_Mutation_p.R284H	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	224					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.R284H(1)|p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	ATAGGTGAACGTGTTGTAGCC	0.423																																						ENST00000360566.2																			2	Substitution - Missense(2)	p.R284H(1)|p.R224H(1)	lung(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19						c.(850-852)cGt>cAt		ribonucleotide reductase M2							237.0	210.0	219.0					2																	10267220		2203	4300	6503	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10267220G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.671G>A	2.37:g.10267220G>A	ENSP00000302955:p.Arg224His					RRM2_ENST00000304567.5_Missense_Mutation_p.R224H	p.R284H	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	7	1142	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		224					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.851G>A	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054212	0.93793	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97994	-4.65;-4.65;-4.65	5.19	5.19	0.71726	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	-5.0336	18.72	0.91689	0.0:0.0:1.0:0.0	.	224	P31350	RIR2_HUMAN	H	284;224;174	ENSP00000353770:R284H;ENSP00000302955:R224H;ENSP00000419177:R174H	ENSP00000302955:R224H	R	+	2	0	RRM2	10184671	1.000000	0.71417	0.941000	0.38009	0.819000	0.46315	9.734000	0.98822	2.422000	0.82143	0.650000	0.86243	CGT		0.423	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			47	94	0	0	0	1	0	47	94				
F2RL1	2150	broad.mit.edu	37	5	76129237	76129237	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:76129237C>A	ENST00000296677.4	+	2	1011	c.805C>A	c.(805-807)Ctg>Atg	p.L269M		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	269					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GATCAGAATGCTGCGATCTTC	0.498																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(805-807)Ctg>Atg		coagulation factor II (thrombin) receptor-like 1							138.0	132.0	134.0					5																	76129237		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129237C>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.805C>A	5.37:g.76129237C>A	ENSP00000296677:p.Leu269Met						p.L269M	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1011	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	269					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.805C>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656641	0.29425	.	.	ENSG00000164251	ENST00000296677	T	0.51574	0.7	5.44	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.136550	0.51477	D	0.000083	T	0.76744	0.4030	H	0.95884	3.735	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.82157	-0.0596	9	.	.	.	-20.7769	12.0904	0.53722	0.0:0.8607:0.0:0.1393	.	269	P55085	PAR2_HUMAN	M	269	ENSP00000296677:L269M	.	L	+	1	2	F2RL1	76164993	0.998000	0.40836	0.005000	0.12908	0.016000	0.09150	4.006000	0.57083	0.688000	0.31529	-0.126000	0.14955	CTG		0.498	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			41	71	1	0	2.87052e-16	1	3.15041e-16	41	71				
KRT40	125115	broad.mit.edu	37	17	39139338	39139338	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39139338G>A	ENST00000398486.2	-	4	650	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	KRT40_ENST00000377755.4_Missense_Mutation_p.L164F	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	164	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGTTGTCAAGCTGTACAGCA	0.328																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(490-492)Ctt>Ttt		keratin 40							179.0	172.0	174.0					17																	39139338		1838	4090	5928	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39139338G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.490C>T	17.37:g.39139338G>A	ENSP00000381500:p.Leu164Phe					KRT40_ENST00000398486.2_Missense_Mutation_p.L164F	p.L164F			Q6A162	K1C40_HUMAN			2	524	-		Breast(137;0.00043)	164			Coil 1B.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.490C>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949081	0.73787	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.72	2.04	0.26737	Filament (1);	.	.	.	.	D	0.91449	0.7301	M	0.66297	2.02	0.30550	N	0.765597	P	0.38922	0.651	P	0.54590	0.756	D	0.87975	0.2739	9	0.87932	D	0	.	8.224	0.31558	0.0:0.121:0.3814:0.4976	.	164	Q6A162	K1C40_HUMAN	F	164	ENSP00000366984:L164F;ENSP00000381500:L164F	ENSP00000366984:L164F	L	-	1	0	KRT40	36392864	0.706000	0.27856	0.992000	0.48379	0.998000	0.95712	0.687000	0.25407	0.814000	0.34374	0.591000	0.81541	CTT		0.328	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		83	138	0	0	0	1	0	83	138				
NDE1	54820	broad.mit.edu	37	16	15771786	15771786	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15771786C>T	ENST00000396353.2	+	5	1192	c.366C>T	c.(364-366)gaC>gaT	p.D122D	NDE1_ENST00000342673.5_Silent_p.D122D|NDE1_ENST00000396355.1_Silent_p.D122D|NDE1_ENST00000396354.1_Silent_p.D122D			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	122	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGCAAATGACGACCTGGAAA	0.542																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(364-366)gaC>gaT		nudE neurodevelopment protein 1							106.0	101.0	103.0					16																	15771786		2197	4300	6497	SO:0001819	synonymous_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15771786C>T	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.366C>T	16.37:g.15771786C>T						NDE1_ENST00000396353.2_Silent_p.D122D|NDE1_ENST00000396354.1_Silent_p.D122D|NDE1_ENST00000342673.5_Silent_p.D122D	p.D122D	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			5	1192	+			122			Interaction with PAFAH1B1 (By similarity).		Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.366C>T																																																																																					0.542	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		12	23	0	0	0	1	0	12	23				
GCDH	2639	broad.mit.edu	37	19	13008631	13008631	+	Silent	SNP	C	C	T	rs139344943	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13008631C>T	ENST00000222214.5	+	11	1408	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	GCDH_ENST00000457854.1_Silent_p.H399H|GCDH_ENST00000591470.1_Silent_p.H399H|GCDH_ENST00000422947.2_Silent_p.H355H			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	399					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	ACGAGTATCACGTGATCCGGC	0.597													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		19160	0.0		0.0	False		,,,				2504	0.0				GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1195-1197)caC>caT		glutaryl-CoA dehydrogenase		C	,	16,4390	23.3+/-48.9	0,16,2187	54.0	57.0	56.0		1197,1197	-6.1	0.9	19	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GCDH	NM_000159.2,NM_013976.2	,	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	,	399/439,399/429	13008631	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008631C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1197C>T	19.37:g.13008631C>T						GCDH_ENST00000591470.1_Silent_p.H399H|GCDH_ENST00000457854.1_Silent_p.H399H|GCDH_ENST00000422947.2_Silent_p.H355H	p.H399H			Q92947	GCDH_HUMAN			11	1408	+			399					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.1197C>T	CCDS12286.1																																																																																				0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			20	30	0	0	0	1	0	20	30				
GRAMD1A	57655	broad.mit.edu	37	19	35510429	35510429	+	Silent	SNP	G	G	A	rs371585118		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35510429G>A	ENST00000317991.5	+	13	1659	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	GRAMD1A_ENST00000411896.2_Silent_p.A482A|GRAMD1A_ENST00000599564.1_Silent_p.A576A|GRAMD1A_ENST00000504615.2_Silent_p.A255A|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	489						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAACAAGGCGCGGCTCCGGT	0.662																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1726-1728)gcG>gcA		GRAM domain containing 1A		G	,	1,4233		0,1,2116	69.0	78.0	75.0		1446,1467	2.5	1.0	19		75	6,8452		0,6,4223	no	coding-synonymous,coding-synonymous	GRAMD1A	NM_001136199.1,NM_020895.3	,	0,7,6339	AA,AG,GG		0.0709,0.0236,0.0552	,	482/714,489/725	35510429	7,12685	2117	4229	6346	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35510429G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1467G>A	19.37:g.35510429G>A						GRAMD1A_ENST00000504615.2_Silent_p.A255A|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.A482A|GRAMD1A_ENST00000317991.5_Silent_p.A489A	p.A576A			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1799	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		489					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1728G>A	CCDS42546.1																																																																																				0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		43	52	0	0	0	1	0	43	52				
CD163	9332	broad.mit.edu	37	12	7639505	7639505	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7639505C>T	ENST00000359156.4	-	9	2330	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	CD163_ENST00000432237.2_Missense_Mutation_p.A710T|CD163_ENST00000541972.1_Missense_Mutation_p.A698T|CD163_ENST00000396620.3_Missense_Mutation_p.A743T|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	710					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGGCCACAGCACTTTCTTCT	0.418																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2128-2130)Gct>Act		CD163 molecule							100.0	90.0	94.0					12																	7639505		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639505C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2128G>A	12.37:g.7639505C>T	ENSP00000352071:p.Ala710Thr					CD163_ENST00000432237.2_Missense_Mutation_p.A710T|CD163_ENST00000541972.1_Missense_Mutation_p.A698T|CD163_ENST00000396620.3_Missense_Mutation_p.A743T	p.A710T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			9	2330	-			710					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2128G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416932	0.42918	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01323	5.03;5.01;5.01;5.01	5.32	-0.338	0.12651	.	2.037390	0.01792	N	0.032361	T	0.01320	0.0043	L	0.38175	1.15	0.09310	N	1	P;B;P	0.41041	0.736;0.005;0.561	B;B;B	0.30646	0.118;0.012;0.079	T	0.48980	-0.8986	10	0.24483	T	0.36	.	4.9569	0.14046	0.4076:0.4272:0.0:0.1652	.	743;710;710	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	T	710;698;743;710	ENSP00000352071:A710T;ENSP00000444071:A698T;ENSP00000379863:A743T;ENSP00000403885:A710T	ENSP00000352071:A710T	A	-	1	0	CD163	7530772	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	0.050000	0.14120	0.021000	0.15133	0.650000	0.86243	GCT		0.418	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		27	53	0	0	0	1	0	27	53				
KBTBD12	166348	broad.mit.edu	37	3	127682079	127682079	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127682079C>A	ENST00000405109.1	+	5	2007	c.1540C>A	c.(1540-1542)Ctt>Att	p.L514I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.L514I|RNA5SP139_ENST00000364340.1_RNA|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.L89I|KBTBD12_ENST00000407609.3_Missense_Mutation_p.L121I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	514										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCGAAAATGCCTTGACGTGGT	0.522																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1540-1542)Ctt>Att		kelch repeat and BTB (POZ) domain containing 12							79.0	69.0	72.0					3																	127682079		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127682079C>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1540C>A	3.37:g.127682079C>A	ENSP00000385957:p.Leu514Ile					KBTBD12_ENST00000407609.3_Missense_Mutation_p.L121I|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.L89I|KBTBD12_ENST00000405256.1_Missense_Mutation_p.L514I	p.L514I			Q3ZCT8	KBTBC_HUMAN			5	2007	+			514					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1540C>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	31	5.085246	0.94100	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.71461	-0.4;-0.4;-0.4;-0.57	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.51477	D	0.000088	D	0.82646	0.5082	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	D	0.84284	0.0496	10	0.87932	D	0	.	18.8943	0.92417	0.0:1.0:0.0:0.0	.	514;89	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	I	514;121;514;89	ENSP00000385957:L514I;ENSP00000385830:L121I;ENSP00000385879:L514I;ENSP00000345478:L89I	ENSP00000345478:L89I	L	+	1	0	KBTBD12	129164769	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.453000	0.80700	2.462000	0.83206	0.491000	0.48974	CTT		0.522	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		5	9	1	0	3.59834e-05	1	3.7043e-05	5	9				
ZNF679	168417	broad.mit.edu	37	7	63726748	63726748	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:63726748G>A	ENST00000421025.1	+	5	1006	c.737G>A	c.(736-738)gGc>gAc	p.G246D	ZNF679_ENST00000255746.4_Missense_Mutation_p.G246D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGGAATGTGGCAAAGCTTTT	0.428																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(736-738)gGc>gAc		zinc finger protein 679							33.0	35.0	35.0					7																	63726748		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726748G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.737G>A	7.37:g.63726748G>A	ENSP00000416809:p.Gly246Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.G246D	p.G246D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1006	+			246						Missense_Mutation	SNP	ENST00000421025.1	37	c.737G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329841	0.60743	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.01430	4.9;4.9	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	L	0.31476	0.935	0.31148	N	0.705862	D	0.63046	0.992	P	0.51170	0.661	T	0.49244	-0.8960	9	0.62326	D	0.03	.	6.9761	0.24677	0.0:0.0:1.0:0.0	.	246	Q8IYX0	ZN679_HUMAN	D	246	ENSP00000416809:G246D;ENSP00000255746:G246D	ENSP00000255746:G246D	G	+	2	0	ZNF679	63364183	1.000000	0.71417	0.787000	0.31911	0.789000	0.44602	2.272000	0.43373	0.181000	0.19994	0.184000	0.17185	GGC		0.428	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		14	28	0	0	0	1	0	14	28				
C5orf22	55322	broad.mit.edu	37	5	31551423	31551423	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31551423C>T	ENST00000325366.9	+	8	1210	c.1083C>T	c.(1081-1083)tgC>tgT	p.C361C	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000355907.3_Silent_p.C82C	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	361										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GTTTAACCTGCGATTATTCAG	0.328																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(244-246)tgC>tgT		chromosome 5 open reading frame 22							109.0	104.0	105.0					5																	31551423		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31551423C>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1083C>T	5.37:g.31551423C>T						C5orf22_ENST00000325366.9_Silent_p.C361C|C5orf22_ENST00000504866.1_3'UTR	p.C82C			Q49AR2	CE022_HUMAN			9	1408	+			361					Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	c.246C>T	CCDS3895.1																																																																																				0.328	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		52	83	0	0	0	1	0	52	83				
KBTBD7	84078	broad.mit.edu	37	13	41766371	41766371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41766371G>A	ENST00000379483.3	-	1	2331	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	675										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGTGCATTTCGCTGAGGTGCT	0.398																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2023-2025)Cga>Tga		kelch repeat and BTB (POZ) domain containing 7							113.0	110.0	111.0					13																	41766371		2203	4300	6503	SO:0001587	stop_gained	84078						protein binding	g.chr13:41766371G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.2023C>T	13.37:g.41766371G>A	ENSP00000368797:p.Arg675*						p.R675*	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2331	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	675					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Nonsense_Mutation	SNP	ENST00000379483.3	37	c.2023C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794762	0.96952	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	.	.	.	5.06	1.18	0.20946	.	0.270963	0.19619	N	0.109957	.	.	.	.	.	.	0.50467	D	0.999874	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1258	0.25471	0.1668:0.2805:0.5526:0.0	.	.	.	.	X	675;577	.	ENSP00000368797:R675X	R	-	1	2	KBTBD7	40664371	0.998000	0.40836	0.996000	0.52242	0.292000	0.27327	0.995000	0.29706	0.303000	0.22785	-0.262000	0.10625	CGA		0.398	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		42	52	0	0	0	1	0	42	52				
PARK2	5071	broad.mit.edu	37	6	162622263	162622263	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162622263C>A	ENST00000366898.1	-	4	536	c.434G>T	c.(433-435)aGc>aTc	p.S145I	PARK2_ENST00000366892.1_Missense_Mutation_p.S145I|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.S145I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	145					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACATAAAAGCTGTTGTAGAT	0.458																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(433-435)aGc>aTc		parkin RBR E3 ubiquitin protein ligase							105.0	101.0	103.0					6																	162622263		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162622263C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.434G>T	6.37:g.162622263C>A	ENSP00000355865:p.Ser145Ile					PARK2_ENST00000366892.1_Missense_Mutation_p.S145I|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.S145I|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_5'UTR	p.S145I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	4	536	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	145					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.434G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951930	0.73787	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	D;D;D	0.92446	-2.89;-3.04;-2.96	5.93	5.93	0.95920	.	0.052130	0.64402	D	0.000001	D	0.95252	0.8460	M	0.74881	2.28	0.37779	D	0.926944	D;D;D	0.89917	1.0;0.992;0.992	D;P;D	0.91635	0.999;0.901;0.919	D	0.95490	0.8568	10	0.66056	D	0.02	.	15.8525	0.78943	0.0:1.0:0.0:0.0	.	145;145;145	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	I	145;145;145;66	ENSP00000355865:S145I;ENSP00000355863:S145I;ENSP00000355858:S145I	ENSP00000355858:S145I	S	-	2	0	PARK2	162542253	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.942000	0.56614	2.815000	0.96918	0.643000	0.83706	AGC		0.458	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			21	41	1	0	3.08376e-08	1	3.24969e-08	21	41				
SYT6	148281	broad.mit.edu	37	1	114680411	114680411	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114680411C>A	ENST00000610222.1	-	3	923	c.777G>T	c.(775-777)aaG>aaT	p.K259N	SYT6_ENST00000393296.1_Missense_Mutation_p.K259N|SYT6_ENST00000369547.1_Missense_Mutation_p.K174N|SYT6_ENST00000607941.1_Missense_Mutation_p.K174N|SYT6_ENST00000609117.1_Missense_Mutation_p.K174N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	259	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAAAAGTCCTTGGCAGGGA	0.552																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(775-777)aaG>aaT		synaptotagmin VI							146.0	133.0	137.0					1																	114680411		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680411C>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.777G>T	1.37:g.114680411C>A	ENSP00000476396:p.Lys259Asn					SYT6_ENST00000369547.1_Missense_Mutation_p.K174N	p.K259N			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	854	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	259			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.777G>T		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745717	0.69418	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.46	3.59	0.41128	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	L	0.53729	1.69	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.74553	-0.3627	10	0.72032	D	0.01	.	9.8969	0.41324	0.0:0.7747:0.0:0.2253	.	259	Q5T7P8	SYT6_HUMAN	N	174;259;174;259	ENSP00000358560:K174N;ENSP00000376974:K259N;ENSP00000358559:K174N;ENSP00000358558:K259N	ENSP00000358558:K259N	K	-	3	2	SYT6	114481934	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.178000	0.42519	1.313000	0.45069	-0.150000	0.13652	AAG		0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		23	50	1	0	7.87624e-14	1	8.57347e-14	23	50				
DCHS2	54798	broad.mit.edu	37	4	155254288	155254288	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155254288G>A	ENST00000357232.4	-	9	1574	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G1024G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	525	Cadherin 4. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCAAAGACGCCTGGCTGCG	0.682																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1573-1575)ggC>ggT		dachsous cadherin-related 2							28.0	31.0	30.0					4																	155254288		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254288G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1575C>T	4.37:g.155254288G>A						DCHS2_ENST00000339452.1_Silent_p.G1024G|DCHS2_ENST00000507542.1_5'UTR	p.G525G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1574	-	all_hematologic(180;0.208)	Renal(120;0.0854)	525			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1575C>T	CCDS3785.1																																																																																				0.682	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	12	0	0	0	1	0	7	12				
STXBP2	6813	broad.mit.edu	37	19	7709605	7709605	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7709605C>T	ENST00000221283.5	+	14	1244	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	STXBP2_ENST00000414284.2_Missense_Mutation_p.R402W|STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000441779.2_Missense_Mutation_p.R416W	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	405			R -> Q (in FHL5; leads to a complete loss of the ability to interact with STX11). {ECO:0000269|PubMed:19804848}.|R -> W (in FHL5; leads to a complete loss of the ability to interact with STX11). {ECO:0000269|PubMed:19804848}.		leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGACAAGATCCGGGTCCTGCT	0.632																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1246-1248)Cgg>Tgg		syntaxin binding protein 2							66.0	49.0	55.0					19																	7709605		2203	4299	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709605C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1213C>T	19.37:g.7709605C>T	ENSP00000221283:p.Arg405Trp					STXBP2_ENST00000221283.5_Missense_Mutation_p.R405W|STXBP2_ENST00000414284.2_Missense_Mutation_p.R402W	p.R416W	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1283	+			405					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1246C>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759040	0.49468	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	D;D;D	0.91464	-2.85;-2.85;-2.85	4.02	1.81	0.25067	.	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.92122	3.275	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.92968	0.6395	10	0.87932	D	0	-9.8988	6.2034	0.20590	0.1845:0.7134:0.0:0.1021	.	416;416;371;402;405	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	W	405;402;416;405	ENSP00000221283:R405W;ENSP00000409471:R402W;ENSP00000413606:R416W	ENSP00000221283:R405W	R	+	1	2	STXBP2	7615605	1.000000	0.71417	0.981000	0.43875	0.072000	0.16883	4.623000	0.61247	0.341000	0.23771	0.591000	0.81541	CGG		0.632	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		16	20	0	0	0	1	0	16	20				
TTC19	54902	broad.mit.edu	37	17	15905279	15905279	+	Silent	SNP	C	C	T	rs577938593		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15905279C>T	ENST00000261647.5	+	3	832	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank|ZSWIM7_ENST00000399277.1_5'Flank|ZSWIM7_ENST00000399280.2_5'Flank|TTC19_ENST00000486880.2_Silent_p.D242D|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	121					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.D242D(1)		central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTTGCATGACGCTCTTCGTC	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22819	0.0		0.0	False		,,,				2504	0.0					ENST00000261647.5																			1	Substitution - coding silent(1)	p.D242D(1)	stomach(1)	central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(361-363)gaC>gaT		tetratricopeptide repeat domain 19							126.0	116.0	119.0					17																	15905279		2203	4300	6503	SO:0001819	synonymous_variant	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15905279C>T	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.363C>T	17.37:g.15905279C>T						TTC19_ENST00000486880.2_Silent_p.D242D|TTC19_ENST00000497842.2_3'UTR	p.D121D	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	3	832	+			121					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	c.363C>T	CCDS11174.2																																																																																				0.383	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		19	33	0	0	0	1	0	19	33				
SYNE2	23224	broad.mit.edu	37	14	64676265	64676265	+	Missense_Mutation	SNP	C	C	T	rs200893937		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64676265C>T	ENST00000344113.4	+	102	18721	c.18509C>T	c.(18508-18510)aCg>aTg	p.T6170M	SYNE2_ENST00000555022.1_Missense_Mutation_p.T48M|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6132M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2555M|SYNE2_ENST00000358025.3_Missense_Mutation_p.T6170M|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2804M|SYNE2_ENST00000357395.3_Missense_Mutation_p.T2555M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6170					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGTTGTACACGAGTGCCAAA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20958	0.001		0.0	False		,,,				2504	0.0					ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7663-7665)aCg>aTg		spectrin repeat containing, nuclear envelope 2							67.0	61.0	63.0					14																	64676265		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676265C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18509C>T	14.37:g.64676265C>T	ENSP00000341781:p.Thr6170Met					SYNE2_ENST00000358025.3_Missense_Mutation_p.T6170M|SYNE2_ENST00000554584.1_Missense_Mutation_p.T6132M|SYNE2_ENST00000344113.4_Missense_Mutation_p.T6170M|SYNE2_ENST00000555022.1_Missense_Mutation_p.T48M|SYNE2_ENST00000554805.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.T2804M|SYNE2_ENST00000394768.2_Missense_Mutation_p.T2555M	p.T2555M			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	18808	+			6170					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7664C>T	CCDS41963.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.31	1.900590	0.33535	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906;ENST00000555022	T;T;T;T;T;T;T;T	0.60672	0.64;0.64;0.64;0.17;0.64;0.64;0.66;0.64	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000095	T	0.78000	0.4215	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;0.994	D;D;D;D;P	0.79108	0.954;0.989;0.992;0.957;0.785	T	0.79820	-0.1642	10	0.66056	D	0.02	.	19.4739	0.94976	0.0:1.0:0.0:0.0	.	2555;558;6132;6170;6170	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	M	6170;2555;6170;6132;6138;2804;2555;140;48	ENSP00000350719:T6170M;ENSP00000349969:T2555M;ENSP00000341781:T6170M;ENSP00000452570:T6132M;ENSP00000450831:T2804M;ENSP00000378249:T2555M;ENSP00000452298:T140M;ENSP00000451009:T48M	ENSP00000261678:T6138M	T	+	2	0	SYNE2	63746018	0.999000	0.42202	0.952000	0.39060	0.633000	0.38033	4.027000	0.57239	2.581000	0.87130	0.609000	0.83330	ACG		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		21	22	0	0	0	1	0	21	22				
CD86	942	broad.mit.edu	37	3	121828160	121828160	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121828160C>T	ENST00000330540.2	+	5	868	c.752C>T	c.(751-753)gCt>gTt	p.A251V	CD86_ENST00000493101.1_Missense_Mutation_p.A139V|CD86_ENST00000264468.5_Missense_Mutation_p.A38V|CD86_ENST00000393627.2_Missense_Mutation_p.A245V|CD86_ENST00000469710.1_Missense_Mutation_p.A169V	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	251					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGGATTACAGCTGTACTTCCA	0.423																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(751-753)gCt>gTt		CD86 molecule	Abatacept(DB01281)						129.0	119.0	123.0					3																	121828160		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828160C>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.752C>T	3.37:g.121828160C>T	ENSP00000332049:p.Ala251Val					CD86_ENST00000393627.2_Missense_Mutation_p.A245V|CD86_ENST00000264468.5_Missense_Mutation_p.A38V|CD86_ENST00000469710.1_Missense_Mutation_p.A169V|CD86_ENST00000493101.1_Missense_Mutation_p.A139V	p.A251V	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	868	+			251					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.752C>T	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781078	0.49891	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.39592	3.32;2.5;4.45;1.07;4.46	4.59	-0.289	0.12851	.	1.544040	0.03787	N	0.262288	T	0.43255	0.1239	L	0.54323	1.7	0.09310	N	1	B;P	0.50528	0.408;0.936	B;P	0.47573	0.111;0.55	T	0.29518	-1.0009	10	0.44086	T	0.13	0.0251	4.4864	0.11792	0.0:0.4886:0.156:0.3554	.	139;251	E9PC27;P42081	.;CD86_HUMAN	V	169;139;251;38;245	ENSP00000418988:A169V;ENSP00000420230:A139V;ENSP00000332049:A251V;ENSP00000264468:A38V;ENSP00000377248:A245V	ENSP00000264468:A38V	A	+	2	0	CD86	123310850	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-1.564000	0.02152	-0.069000	0.12931	0.655000	0.94253	GCT		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		17	67	0	0	0	1	0	17	67				
DNM1P46	196968	broad.mit.edu	37	15	100340319	100340319	+	RNA	SNP	G	G	A	rs28696056	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100340319G>A	ENST00000341853.1	-	0	607					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTTCCCAAGCGAGTGCAGGTT	0.617													.|||	2	0.000399361	0.0015	0.0	5008	,	,		25617	0.0		0.0	False		,,,				2504	0.0					ENST00000341853.1																			0																																																			0							g.chr15:100340319G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340319G>A								NR_003260.1						0	607	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.617	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		10	18	0	0	0	1	0	10	18				
DOCK1	1793	broad.mit.edu	37	10	129202690	129202690	+	Silent	SNP	G	G	A	rs373920654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129202690G>A	ENST00000280333.6	+	40	4165	c.4056G>A	c.(4054-4056)ctG>ctA	p.L1352L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1352	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCACATTCCTGCGGGTAAAGT	0.498																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4054-4056)ctG>ctA		dedicator of cytokinesis 1		G		2,3786		0,2,1892	51.0	52.0	52.0		4011	-8.0	0.9	10		52	0,8270		0,0,4135	no	coding-synonymous	DOCK1	NM_001380.3		0,2,6027	AA,AG,GG		0.0,0.0528,0.0166		1337/1851	129202690	2,12056	1894	4135	6029	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129202690G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4056G>A	10.37:g.129202690G>A							p.L1352L	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	40	4165	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1352			DHR-2.		A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.4056G>A																																																																																					0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	8	0	0	0	1	0	5	8				
POTEH	23784	broad.mit.edu	37	22	16287735	16287735	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:16287735C>T	ENST00000343518.6	-	1	202	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	51										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.602																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(151-153)Gat>Aat		POTE ankyrin domain family, member H							100.0	116.0	110.0					22																	16287735		1677	3225	4902	SO:0001583	missense	23784							g.chr22:16287735C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.151G>A	22.37:g.16287735C>T	ENSP00000340610:p.Asp51Asn						p.D51N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	202	-			51					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.151G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.609	1.130718	0.21041	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.48522	0.81	.	.	.	.	.	.	.	.	T	0.46541	0.1398	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.39418	-0.9615	7	0.22109	T	0.4	.	.	.	.	.	51	Q6S545	POTEH_HUMAN	N	51	ENSP00000340610:D51N	ENSP00000340610:D51N	D	-	1	0	POTEH	14667735	0.010000	0.17322	0.004000	0.12327	0.004000	0.04260	0.190000	0.17057	0.073000	0.16731	0.074000	0.15403	GAT		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		43	210	0	0	0	1	0	43	210				
PSMA1	5682	broad.mit.edu	37	11	14539500	14539500	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14539500T>C	ENST00000396394.2	-	3	472	c.76A>G	c.(76-78)Atg>Gtg	p.M26V	PSMA1_ENST00000418988.2_Missense_Mutation_p.M32V|PSMA1_ENST00000555531.1_Missense_Mutation_p.M26V|PSMA1_ENST00000530457.1_Start_Codon_SNP_p.M1V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M26V|PSMA1_ENST00000419365.2_Missense_Mutation_p.M26V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACAGCTTCCATTGCATATTCA	0.299																																						ENST00000396394.2																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(76-78)Atg>Gtg		proteasome (prosome, macropain) subunit, alpha type, 1							78.0	77.0	77.0					11																	14539500		2200	4293	6493	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14539500T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.76A>G	11.37:g.14539500T>C	ENSP00000379676:p.Met26Val					PSMA1_ENST00000555531.1_Missense_Mutation_p.M26V|PSMA1_ENST00000418988.2_Missense_Mutation_p.M32V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M26V|PSMA1_ENST00000419365.2_Missense_Mutation_p.M26V|PSMA1_ENST00000530457.1_Start_Codon_SNP_p.M1V	p.M26V	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN			3	472	-			26					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.76A>G	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903916	0.72754	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988;ENST00000533068;ENST00000532256	T;T;T;T;T	0.42131	0.98;1.01;1.01;1.01;1.01	5.25	5.25	0.73442	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.70275	2.135	0.80722	D	1	B;P;B	0.38395	0.329;0.629;0.389	B;B;B	0.42555	0.21;0.391;0.305	T	0.53063	-0.8491	10	0.49607	T	0.09	-8.7368	15.1476	0.72671	0.0:0.0:0.0:1.0	.	26;32;26	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	V	26;26;26;1;32;1;1	ENSP00000392242:M26V;ENSP00000379676:M26V;ENSP00000379675:M26V;ENSP00000441166:M1V;ENSP00000414359:M32V	ENSP00000379675:M26V	M	-	1	0	PSMA1	14496076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	1.981000	0.57761	0.533000	0.62120	ATG		0.299	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		11	41	0	0	0	1	0	11	41				
LRRC2	79442	broad.mit.edu	37	3	46592981	46592981	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46592981C>A	ENST00000395905.3	-	2	493	c.101G>T	c.(100-102)aGg>aTg	p.R34M	LRRC2_ENST00000496388.1_Intron|AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.R34M	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	34										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCAAGCCTTTCCACCTC	0.463																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(100-102)aGg>aTg		leucine rich repeat containing 2							141.0	140.0	140.0					3																	46592981		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592981C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.101G>T	3.37:g.46592981C>A	ENSP00000379241:p.Arg34Met					LRRC2_ENST00000296144.3_Missense_Mutation_p.R34M|LRRC2_ENST00000496388.1_Intron	p.R34M	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	493	-		Ovarian(412;0.0563)	34					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.101G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374605	0.61735	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.24538	1.85;1.85	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000003	T	0.39064	0.1064	L	0.34521	1.04	0.51012	D	0.999903	D	0.76494	0.999	D	0.80764	0.994	T	0.04708	-1.0932	10	0.35671	T	0.21	.	15.6094	0.76704	0.0:1.0:0.0:0.0	.	34	Q9BYS8	LRRC2_HUMAN	M	34	ENSP00000379241:R34M;ENSP00000296144:R34M	ENSP00000296144:R34M	R	-	2	0	LRRC2	46567985	0.998000	0.40836	0.715000	0.30552	0.483000	0.33249	4.701000	0.61810	2.624000	0.88883	0.655000	0.94253	AGG		0.463	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			21	38	1	0	3.62473e-10	1	3.8659e-10	21	38				
GBP6	163351	broad.mit.edu	37	1	89847452	89847452	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89847452G>A	ENST00000370456.4	+	7	1164	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	GBP6_ENST00000535065.1_Silent_p.A227A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	357					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACATGCATGCGGCCTGTGAGA	0.537																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1069-1071)gcG>gcA		guanylate binding protein family, member 6							84.0	75.0	78.0					1																	89847452		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89847452G>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1071G>A	1.37:g.89847452G>A						GBP6_ENST00000535065.1_Silent_p.A227A	p.A357A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	7	1164	+		Lung NSC(277;0.0908)	357					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.1071G>A	CCDS723.1																																																																																				0.537	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		9	38	0	0	0	1	0	9	38				
REEP3	221035	broad.mit.edu	37	10	65379471	65379471	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:65379471C>T	ENST00000373758.4	+	7	805	c.622C>T	c.(622-624)Cca>Tca	p.P208S	REEP3_ENST00000298249.4_Missense_Mutation_p.P193S	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	208					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCAGAGGGGCCATATTCAGA	0.413																																						ENST00000373758.4																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(622-624)Cca>Tca		receptor accessory protein 3							66.0	66.0	66.0					10																	65379471		1904	4123	6027	SO:0001583	missense	221035					integral to membrane		g.chr10:65379471C>T	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.622C>T	10.37:g.65379471C>T	ENSP00000362863:p.Pro208Ser					REEP3_ENST00000298249.4_Missense_Mutation_p.P193S	p.P208S	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN			7	805	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		208					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.622C>T	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	C	4.753	0.139972	0.09083	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.82255	-1.59;-1.59	5.72	2.79	0.32731	.	0.374537	0.30676	N	0.009116	T	0.69842	0.3156	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50491	-0.8822	10	0.14656	T	0.56	.	6.8581	0.24052	0.484:0.435:0.0:0.081	.	208	Q6NUK4	REEP3_HUMAN	S	208;193;210	ENSP00000362863:P208S;ENSP00000298249:P193S	ENSP00000298249:P193S	P	+	1	0	REEP3	65049477	0.834000	0.29399	0.038000	0.18304	0.401000	0.30781	0.465000	0.22004	0.708000	0.31955	0.655000	0.94253	CCA		0.413	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		4	7	0	0	0	1	0	4	7				
THNSL2	55258	broad.mit.edu	37	2	88484886	88484886	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:88484886G>A	ENST00000324166.5	+	7	2808	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.A373T|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	373					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GTCGGATGAAGCCATCACCCA	0.562																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(1117-1119)Gcc>Acc		threonine synthase-like 2 (S. cerevisiae)							41.0	47.0	45.0					2																	88484886		2191	4299	6490	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88484886G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1117G>A	2.37:g.88484886G>A	ENSP00000327323:p.Ala373Thr					THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.A373T|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron	p.A373T	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			7	2808	+			373					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1117G>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618262	0.14129	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.96856	-4.15;-4.15	5.81	2.1	0.27182	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.385978	0.27891	N	0.017424	D	0.90885	0.7136	N	0.21508	0.67	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.82874	-0.0241	10	0.45353	T	0.12	.	8.4936	0.33115	0.359:0.0:0.641:0.0	.	373	Q86YJ6	THNS2_HUMAN	T	373	ENSP00000351402:A373T;ENSP00000327323:A373T	ENSP00000327323:A373T	A	+	1	0	THNSL2	88266001	0.996000	0.38824	0.291000	0.24904	0.050000	0.14768	1.042000	0.30303	0.118000	0.18165	-0.140000	0.14226	GCC		0.562	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		14	19	0	0	0	1	0	14	19				
IRGQ	126298	broad.mit.edu	37	19	44096981	44096981	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44096981C>T	ENST00000602269.1	-	2	1254	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A357T|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	357	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTCCACCTGCGTTCTTTAAG	0.592																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1069-1071)Gca>Aca		immunity-related GTPase family, Q							221.0	220.0	221.0					19																	44096981		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44096981C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1069G>A	19.37:g.44096981C>T	ENSP00000472250:p.Ala357Thr					IRGQ_ENST00000602269.1_Missense_Mutation_p.A357T|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron	p.A357T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1224	-		Prostate(69;0.0199)	357					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1069G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	4.084	0.013467	0.07959	.	.	ENSG00000167378	ENST00000422989	T	0.50548	0.74	3.75	-4.34	0.03666	.	2.497930	0.01532	N	0.018841	T	0.22781	0.0550	N	0.12182	0.205	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.05289	-1.0894	10	0.16420	T	0.52	-21.3881	0.8385	0.01145	0.2703:0.3586:0.126:0.2451	.	357	Q8WZA9	IRGQ_HUMAN	T	357	ENSP00000387535:A357T	ENSP00000387535:A357T	A	-	1	0	IRGQ	48788821	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	-0.019000	0.12546	-0.752000	0.04728	0.591000	0.81541	GCA		0.592	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		28	69	0	0	0	1	0	28	69				
IFRD1	3475	broad.mit.edu	37	7	112098937	112098937	+	Missense_Mutation	SNP	C	C	T	rs11542463		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112098937C>T	ENST00000403825.3	+	5	692	c.431C>T	c.(430-432)gCa>gTa	p.A144V	IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000005558.4_Missense_Mutation_p.A144V|IFRD1_ENST00000535603.1_Missense_Mutation_p.A94V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	144	Poly-Ala.				adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GAGCAACGTGCAGCTGCAGCG	0.388																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(430-432)gCa>gTa		interferon-related developmental regulator 1							96.0	94.0	95.0					7																	112098937		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112098937C>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.431C>T	7.37:g.112098937C>T	ENSP00000384477:p.Ala144Val					IFRD1_ENST00000005558.4_Missense_Mutation_p.A144V|IFRD1_ENST00000535603.1_Missense_Mutation_p.A94V|IFRD1_ENST00000486688.1_3'UTR	p.A144V	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			5	692	+			144			Poly-Ala.		B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.431C>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404625	0.62288	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000476927;ENST00000440625;ENST00000535603	T;T;T;T;T	0.68479	-0.26;-0.26;-0.33;1.21;-0.26	5.48	5.48	0.80851	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044969	0.85682	D	0.000000	T	0.58566	0.2131	L	0.38175	1.15	0.80722	D	1	B	0.25048	0.117	B	0.31016	0.123	T	0.55127	-0.8189	10	0.37606	T	0.19	-14.2747	12.9902	0.58614	0.0:0.9256:0.0:0.0744	rs11542463	144	O00458	IFRD1_HUMAN	V	144;144;94;94;94	ENSP00000005558:A144V;ENSP00000384477:A144V;ENSP00000437250:A94V;ENSP00000402177:A94V;ENSP00000439188:A94V	ENSP00000005558:A144V	A	+	2	0	IFRD1	111886173	1.000000	0.71417	0.883000	0.34634	0.819000	0.46315	5.782000	0.68973	2.733000	0.93635	0.591000	0.81541	GCA		0.388	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		6	38	0	0	0	1	0	6	38				
OR7G1	125962	broad.mit.edu	37	19	9226080	9226080	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9226080G>A	ENST00000541538.1	-	1	359	c.360C>T	c.(358-360)taC>taT	p.Y120Y	OR7G1_ENST00000293614.1_Silent_p.Y120Y	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CATAGCGGTCGTAGGCCATGA	0.488																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(358-360)taC>taT		olfactory receptor, family 7, subfamily G, member 1							132.0	131.0	131.0					19																	9226080		2203	4300	6503	SO:0001819	synonymous_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226080G>A		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.360C>T	19.37:g.9226080G>A						OR7G1_ENST00000541538.1_Silent_p.Y120Y	p.Y120Y			Q8NGA0	OR7G1_HUMAN			1	359	-			120					Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	c.360C>T	CCDS32898.2																																																																																				0.488	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			36	44	0	0	0	1	0	36	44				
PLG	5340	broad.mit.edu	37	6	161134081	161134081	+	Silent	SNP	C	C	T	rs372617319		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161134081C>T	ENST00000308192.9	+	5	534	c.471C>T	c.(469-471)aaC>aaT	p.N157N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	157	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCCAGACAACGATCCGCAGG	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.001					ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(469-471)aaC>aaT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	T		0,4406		0,0,2203	138.0	136.0	137.0		471	-5.6	0.6	6		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLG	NM_000301.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		157/811	161134081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134081C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.471C>T	6.37:g.161134081C>T						PLG_ENST00000462918.1_3'UTR	p.N157N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	534	+			157			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.471C>T	CCDS5279.1																																																																																				0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		37	62	0	0	0	1	0	37	62				
SVOPL	136306	broad.mit.edu	37	7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138305867G>A	ENST00000419765.3	-	13	1310	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Missense_Mutation_p.T306M|SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	426						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(916-918)aCg>aTg		SVOP-like							58.0	45.0	50.0					7																	138305867		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305867G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1277C>T	7.37:g.138305867G>A	ENSP00000405482:p.Thr426Met					SVOPL_ENST00000288513.5_Missense_Mutation_p.T274M|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Missense_Mutation_p.T426M|SVOPL_ENST00000436657.1_Missense_Mutation_p.T274M	p.T306M			Q8N434	SVOPL_HUMAN			10	1125	-			426						Missense_Mutation	SNP	ENST00000419765.3	37	c.917C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	7.070	0.568152	0.13560	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.32	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.899902	0.09868	N	0.745250	T	0.44138	0.1279	N	0.21282	0.65	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.11329	0.003;0.006	T	0.29912	-0.9996	10	0.33141	T	0.24	-3.3998	10.1323	0.42687	0.1524:0.0:0.8476:0.0	.	426;274	Q8N434;Q8N434-2	SVOPL_HUMAN;.	M	274;306;274;426	ENSP00000288513:T274M;ENSP00000412830:T306M;ENSP00000417018:T274M;ENSP00000405482:T426M	ENSP00000288513:T274M	T	-	2	0	SVOPL	137956407	0.103000	0.21917	0.040000	0.18447	0.546000	0.35178	2.773000	0.47686	1.245000	0.43885	0.650000	0.86243	ACG		0.597	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		5	21	0	0	0	1	0	5	21				
FNIP1	96459	broad.mit.edu	37	5	131052273	131052273	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131052273G>A	ENST00000510461.1	-	6	702	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	FNIP1_ENST00000307968.7_Silent_p.L203L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L158L|FNIP1_ENST00000511848.1_Silent_p.L203L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	203					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTTCCAAGCAGTCCATTAATA	0.308																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(607-609)Ctg>Ttg		folliculin interacting protein 1							105.0	108.0	107.0					5																	131052273		2202	4296	6498	SO:0001819	synonymous_variant	96459							g.chr5:131052273G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.607C>T	5.37:g.131052273G>A						FNIP1_ENST00000510461.1_Silent_p.L203L|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Silent_p.L203L|FNIP1_ENST00000307954.8_Silent_p.L158L	p.L203L	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	6	606	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.607C>T	CCDS34227.1																																																																																				0.308	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		6	32	0	0	0	1	0	6	32				
GPR98	84059	broad.mit.edu	37	5	90159576	90159576	+	Missense_Mutation	SNP	C	C	A	rs202110635	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:90159576C>A	ENST00000405460.2	+	83	17854	c.17758C>A	c.(17758-17760)Ctt>Att	p.L5920I	GPR98_ENST00000425867.2_Missense_Mutation_p.L1581I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5920					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTACAGGTCTTTGCTTGGC	0.443													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18326	0.0		0.0	False		,,,				2504	0.0					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17758-17760)Ctt>Att		G protein-coupled receptor 98		C	ILE/LEU	9,3779		0,9,1885	213.0	189.0	196.0		17758	3.3	1.0	5		196	0,8244		0,0,4122	yes	missense	GPR98	NM_032119.3	5	0,9,6007	AA,AC,CC		0.0,0.2376,0.0748	probably-damaging	5920/6307	90159576	9,12023	1894	4122	6016	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90159576C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17758C>A	5.37:g.90159576C>A	ENSP00000384582:p.Leu5920Ile					GPR98_ENST00000425867.2_Missense_Mutation_p.L1581I	p.L5920I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	83	17854	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5920					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17758C>A	CCDS47246.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.46	3.128258	0.56721	0.002376	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41065	1.01;1.01	6.05	3.29	0.37713	GPCR, family 2-like (1);	0.101192	0.64402	D	0.000001	T	0.24470	0.0593	N	0.14661	0.345	0.34568	D	0.713112	B;P;B	0.40000	0.213;0.698;0.178	B;B;B	0.41946	0.138;0.371;0.085	T	0.24512	-1.0158	9	.	.	.	.	6.5284	0.22314	0.0:0.6233:0.0:0.3767	.	1581;5920;1581	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5920;5920;1581	ENSP00000384582:L5920I;ENSP00000392618:L1581I	.	L	+	1	0	GPR98	90195332	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	2.755000	0.47540	1.572000	0.49736	0.650000	0.86243	CTT		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	44	1	0	2.44723e-14	1	2.66926e-14	27	44				
PCDHA2	56146	broad.mit.edu	37	5	140176054	140176054	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140176054G>A	ENST00000526136.1	+	1	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R502H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R502H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCGCGTTGTCG	0.682																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1504-1506)cGc>cAc									53.0	55.0	55.0					5																	140176054		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176054G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1505G>A	5.37:g.140176054G>A	ENSP00000431748:p.Arg502His					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R502H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R502H	p.R502H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1505	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1505G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	11.40	1.627919	0.28978	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.60920	0.15;0.15;0.15	3.88	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.39985	U	0.001206	T	0.46889	0.1416	L	0.50333	1.59	0.09310	N	1	P;B;P	0.37176	0.586;0.282;0.586	B;B;B	0.40228	0.245;0.323;0.245	T	0.40117	-0.9580	10	0.44086	T	0.13	.	3.1869	0.06604	0.098:0.1256:0.4774:0.299	.	502;502;502	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	502	ENSP00000430584:R502H;ENSP00000367372:R502H;ENSP00000431748:R502H	ENSP00000367372:R502H	R	+	2	0	PCDHA2	140156238	0.991000	0.36638	0.993000	0.49108	0.952000	0.60782	2.324000	0.43831	1.903000	0.55091	0.644000	0.83932	CGC		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		12	51	0	0	0	1	0	12	51				
MAP2K7	5609	broad.mit.edu	37	19	7975010	7975010	+	Missense_Mutation	SNP	G	G	A	rs557240660		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7975010G>A	ENST00000397979.3	+	3	383	c.329G>A	c.(328-330)gGc>gAc	p.G110D	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.G110D|MAP2K7_ENST00000545011.1_Missense_Mutation_p.G110D|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G126D	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	110					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.Q111fs*39(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ACCATCGGGGGCCAGGTACCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14973	0.0		0.0	False		,,,				2504	0.0					ENST00000545011.1																			1	Insertion - Frameshift(1)	p.Q111fs*39(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(328-330)gGc>gAc		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						25.0	27.0	26.0					19																	7975010		1966	4153	6119	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975010G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.329G>A	19.37:g.7975010G>A	ENSP00000381066:p.Gly110Asp					MAP2K7_ENST00000397981.3_Missense_Mutation_p.G110D|MAP2K7_ENST00000397983.3_Missense_Mutation_p.G126D|MAP2K7_ENST00000397979.3_Missense_Mutation_p.G110D	p.G110D			O14733	MP2K7_HUMAN			3	394	+			110					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.329G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533412	0.85812	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71817	-0.4;-0.5;-0.6;-0.5	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	L	0.48642	1.525	0.80722	D	1	P;P	0.40398	0.716;0.593	B;B	0.42188	0.379;0.21	T	0.63111	-0.6710	10	0.20046	T	0.44	-12.8954	15.7224	0.77724	0.0:0.0:1.0:0.0	.	110;110	O14733-4;O14733	.;MP2K7_HUMAN	D	110;126;110;126;110	ENSP00000381068:G110D;ENSP00000381070:G126D;ENSP00000443946:G110D;ENSP00000381066:G110D	ENSP00000381066:G110D	G	+	2	0	MAP2K7	7881010	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.142000	0.77339	2.399000	0.81585	0.561000	0.74099	GGC		0.667	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	14	0	0	0	1	0	3	14				
ENTHD2	146705	broad.mit.edu	37	17	79204366	79204366	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79204366G>T	ENST00000300714.3	-	11	1064	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.P252H|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	336						cytoplasmic vesicle (GO:0031410)											GTTGGTCACAGGTCCCGGGCT	0.697											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374769.2																			0											c.(754-756)cCt>cAt		ENTH domain containing 2							30.0	29.0	29.0					17																	79204366		2202	4300	6502	SO:0001583	missense	146705							g.chr17:79204366G>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1007C>A	17.37:g.79204366G>T	ENSP00000300714:p.Pro336His		OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1189	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.P336H	p.P252H							12	1232	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.755C>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709472	0.89018	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.65178	-0.14;-0.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81022	-0.1121	10	0.87932	D	0	-18.7101	16.7742	0.85546	0.0:0.0:1.0:0.0	.	336;252	Q96N21;Q96N21-2	CQ056_HUMAN;.	H	336;252	ENSP00000300714:P336H;ENSP00000363901:P252H	ENSP00000300714:P336H	P	-	2	0	C17orf56	76818961	1.000000	0.71417	0.864000	0.33941	0.874000	0.50279	8.413000	0.90235	2.479000	0.83701	0.555000	0.69702	CCT		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		16	16	1	0	1.5739e-10	1	1.6844e-10	16	16				
BAP1	8314	broad.mit.edu	37	3	52437772	52437772	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52437772C>T	ENST00000460680.1	-	13	1860	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	BAP1_ENST00000296288.5_Silent_p.L445L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTTGATGGACAGAGGAATTG	0.592			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1387-1389)ctG>ctA		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							66.0	67.0	67.0					3																	52437772		2203	4300	6503	SO:0001819	synonymous_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437772C>T	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1389G>A	3.37:g.52437772C>T						BAP1_ENST00000296288.5_Silent_p.L445L	p.L463L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1860	-			463					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	c.1389G>A	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			6	31	0	0	0	1	0	6	31				
SUPT6H	6830	broad.mit.edu	37	17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3559-3561)gCg>gTg		suppressor of Ty 6 homolog (S. cerevisiae)							121.0	91.0	101.0					17																	27018008		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27018008C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3560C>T	17.37:g.27018008C>T	ENSP00000319104:p.Ala1187Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			27	3843	+	Lung NSC(42;0.00431)		1187					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3560C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365543	0.82463	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.62209	1.925	0.80722	D	1	P	0.46987	0.888	B	0.32465	0.146	T	0.57957	-0.7721	9	0.33141	T	0.24	-13.7195	19.5095	0.95135	0.0:1.0:0.0:0.0	.	1187	Q7KZ85	SPT6H_HUMAN	V	1187	.	ENSP00000319104:A1187V	A	+	2	0	SUPT6H	24042135	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.165000	0.77544	2.679000	0.91253	0.655000	0.94253	GCG		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		13	17	0	0	0	1	0	13	17				
NOD1	10392	broad.mit.edu	37	7	30485797	30485797	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30485797C>T	ENST00000222823.4	-	9	2938	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	805					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A805T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ACAGCCAGGGCGAGATACTTC	0.522																																						ENST00000222823.4																			1	Substitution - Missense(1)	p.A805T(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2413-2415)Gcc>Acc		nucleotide-binding oligomerization domain containing 1							364.0	292.0	316.0					7																	30485797		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485797C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2413G>A	7.37:g.30485797C>T	ENSP00000222823:p.Ala805Thr						p.A805T	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			9	2938	-			805					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2413G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391680	0.95988	.	.	ENSG00000106100	ENST00000222823	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.049361	0.85682	D	0.000000	D	0.85978	0.5823	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87688	0.2552	10	0.62326	D	0.03	.	18.1152	0.89552	0.0:1.0:0.0:0.0	.	805	Q9Y239	NOD1_HUMAN	T	805	ENSP00000222823:A805T	ENSP00000222823:A805T	A	-	1	0	NOD1	30452322	1.000000	0.71417	0.567000	0.28434	0.995000	0.86356	6.981000	0.76166	2.509000	0.84616	0.655000	0.94253	GCC		0.522	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	87	0	0	0	1	0	4	87				
LRGUK	136332	broad.mit.edu	37	7	133932327	133932327	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:133932327G>T	ENST00000285928.2	+	17	2072	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	668						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCTATACACAGACAGCACGAG	0.373																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2002-2004)aGa>aTa		leucine-rich repeats and guanylate kinase domain containing							83.0	83.0	83.0					7																	133932327		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133932327G>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2003G>T	7.37:g.133932327G>T	ENSP00000285928:p.Arg668Ile						p.R668I	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			17	2072	+			668					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.2003G>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650751	0.47362	.	.	ENSG00000155530	ENST00000285928	T	0.51574	0.7	5.83	3.72	0.42706	.	0.118458	0.56097	D	0.000033	T	0.64294	0.2585	M	0.71581	2.175	0.50632	D	0.999888	D	0.89917	1.0	D	0.73380	0.98	T	0.67906	-0.5549	10	0.87932	D	0	-18.8843	10.8126	0.46555	0.1723:0.0:0.8277:0.0	.	668	Q96M69	LRGUK_HUMAN	I	668	ENSP00000285928:R668I	ENSP00000285928:R668I	R	+	2	0	LRGUK	133582867	1.000000	0.71417	0.981000	0.43875	0.193000	0.23685	2.364000	0.44187	1.476000	0.48215	0.655000	0.94253	AGA		0.373	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		7	17	1	0	3.86212e-05	1	3.97146e-05	7	17				
AEBP2	121536	broad.mit.edu	37	12	19653146	19653146	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:19653146T>C	ENST00000398864.3	+	5	1316	c.1290T>C	c.(1288-1290)ttT>ttC	p.F430F	AEBP2_ENST00000541908.1_Silent_p.F201F|AEBP2_ENST00000360995.4_Silent_p.F214F|AEBP2_ENST00000266508.9_Silent_p.F430F	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	430	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTGTTGTTTTTCATAGTACTG	0.308																																						ENST00000266508.9																			0				ovary(1)	1						c.(1288-1290)ttT>ttC		AE binding protein 2							75.0	68.0	71.0					12																	19653146		1831	4073	5904	SO:0001819	synonymous_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19653146T>C		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1290T>C	12.37:g.19653146T>C						AEBP2_ENST00000541908.1_Silent_p.F201F|AEBP2_ENST00000398864.3_Silent_p.F430F|AEBP2_ENST00000360995.4_Silent_p.F214F	p.F430F	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			5	1291	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		430			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Silent	SNP	ENST00000398864.3	37	c.1290T>C	CCDS44841.1																																																																																				0.308	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		4	7	0	0	0	1	0	4	7				
UNC5D	137970	broad.mit.edu	37	8	35647892	35647892	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:35647892C>T	ENST00000404895.2	+	17	3001	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	UNC5D_ENST00000287272.2_Silent_p.F822F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000416672.1_Silent_p.F896F|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000453357.2_Silent_p.F886F|UNC5D_ENST00000420357.1_Silent_p.F824F	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	891	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TATCTTATTTCGCTACACAAA	0.393																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2464-2466)ttC>ttT		unc-5 homolog D (C. elegans)							111.0	100.0	104.0					8																	35647892		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647892C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2673C>T	8.37:g.35647892C>T						UNC5D_ENST00000453357.2_Silent_p.F886F|UNC5D_ENST00000449677.1_Silent_p.F467F|UNC5D_ENST00000416672.1_Silent_p.F896F|UNC5D_ENST00000404895.2_Silent_p.F891F|UNC5D_ENST00000420357.1_Silent_p.F824F	p.F822F			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2486	+			891					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.2466C>T	CCDS6093.2																																																																																				0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	69	0	0	0	1	0	5	69				
ASB12	142689	broad.mit.edu	37	X	63444281	63444281	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63444281C>T	ENST00000396130.2	-	2	863	c.864G>A	c.(862-864)caG>caA	p.Q288Q	MTMR8_ENST00000453546.1_Silent_p.Q672Q|ASB12_ENST00000362002.2_Silent_p.Q297Q			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	288	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGGCTTGTGGCTGGCCAGCCT	0.512																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(2014-2016)caG>caA		myotubularin related protein 8							118.0	92.0	101.0					X																	63444281		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444281C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.864G>A	X.37:g.63444281C>T						ASB12_ENST00000396130.2_Silent_p.Q288Q|ASB12_ENST00000362002.2_Silent_p.Q297Q	p.Q672Q			Q96EF0	MTMR8_HUMAN			11	2105	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.2016G>A																																																																																					0.512	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	23	0	0	0	1	0	16	23				
GUCY2C	2984	broad.mit.edu	37	12	14778724	14778724	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14778724C>A	ENST00000261170.3	-	21	2511	c.2375G>T	c.(2374-2376)aGg>aTg	p.R792M		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	792					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTGTCAGCCCTGTCCCTCTC	0.448																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2374-2376)aGg>aTg		guanylate cyclase 2C (heat stable enterotoxin receptor)							235.0	200.0	212.0					12																	14778724		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14778724C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2375G>T	12.37:g.14778724C>A	ENSP00000261170:p.Arg792Met						p.R792M	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			21	2511	-			792					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2375G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946380	0.92593	.	.	ENSG00000070019	ENST00000261170	D	0.82803	-1.65	5.35	5.35	0.76521	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92593	0.7647	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93413	0.6770	10	0.87932	D	0	.	19.4318	0.94772	0.0:1.0:0.0:0.0	.	792	P25092	GUC2C_HUMAN	M	792	ENSP00000261170:R792M	ENSP00000261170:R792M	R	-	2	0	GUCY2C	14669991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.724000	0.84798	2.668000	0.90789	0.591000	0.81541	AGG		0.448	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			32	52	1	0	9.65021e-13	1	1.04556e-12	32	52				
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	C	T	rs375057882		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCCAGTACGAGAGGGAAT	0.532																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(652-654)taC>taT		prion protein	Tetracycline(DB00759)	C	,,,,	0,4406		0,0,2203	136.0	117.0	123.0		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680520C>T	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.654C>T	20.37:g.4680520C>T						PRNP_ENST00000430350.2_Silent_p.Y218Y	p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	941	+			218			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.654C>T	CCDS13080.1																																																																																				0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		14	17	0	0	0	1	0	14	17				
C10orf105	414152	broad.mit.edu	37	10	73491778	73491778	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73491778G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.S1255S	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCATCCTGTCGGGCGCAGAGG	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(3763-3765)tcG>tcA		cadherin-related 23							61.0	66.0	65.0					10																	73491778		2084	4205	6289	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73491778G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5706C>T	10.37:g.73491778G>A						C10orf105_ENST00000398786.2_Intron	p.S1255S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	3770	+			1250			Cadherin 12.			Silent	SNP	ENST00000398786.2	37	c.3765G>A	CCDS44430.1																																																																																				0.552	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		10	14	0	0	0	1	0	10	14				
CELSR3	1951	broad.mit.edu	37	3	48694698	48694698	+	Missense_Mutation	SNP	G	G	A	rs373625993		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48694698G>A	ENST00000164024.4	-	2	4112	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1278C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1278					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCTCAAGGCGCACGGTCAGG	0.672																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3832-3834)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 3							35.0	31.0	32.0					3																	48694698		2200	4299	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694698G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3832C>T	3.37:g.48694698G>A	ENSP00000164024:p.Arg1278Cys					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1278C	p.R1278C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4112	-			1278					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3832C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842729	0.91197	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.76968	-1.06;-1.05	4.9	4.9	0.64082	.	.	.	.	.	D	0.89986	0.6874	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.979	D;B	0.78314	0.991;0.42	D	0.91862	0.5500	9	0.87932	D	0	.	18.2685	0.90060	0.0:0.0:1.0:0.0	.	1278;1348	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1278	ENSP00000164024:R1278C;ENSP00000445694:R1278C	ENSP00000164024:R1278C	R	-	1	0	CELSR3	48669702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.560000	0.86352	0.549000	0.68633	CGC		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	9	0	0	0	1	0	5	9				
CETP	1071	broad.mit.edu	37	16	56996954	56996954	+	Missense_Mutation	SNP	G	G	A	rs549487844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56996954G>A	ENST00000200676.3	+	2	281	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CETP_ENST00000379780.2_Missense_Mutation_p.A51T|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GATCCAGACCGCCTTCCAGCG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19700	0.0		0.0	False		,,,				2504	0.0					ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(151-153)Gcc>Acc		cholesteryl ester transfer protein, plasma							97.0	72.0	80.0					16																	56996954		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:56996954G>A	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.151G>A	16.37:g.56996954G>A	ENSP00000200676:p.Ala51Thr					CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.A51T|CETP_ENST00000566128.1_5'UTR	p.A51T	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			2	281	+			51						Missense_Mutation	SNP	ENST00000200676.3	37	c.151G>A	CCDS10772.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634028	0.47049	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05996	3.36;3.36	4.68	4.68	0.58851	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.138996	0.47852	U	0.000208	T	0.09069	0.0224	L	0.34521	1.04	0.80722	D	1	D;P	0.67145	0.996;0.936	P;B	0.48921	0.595;0.309	T	0.16100	-1.0414	10	0.45353	T	0.12	-17.9904	14.3079	0.66395	0.0:0.0:1.0:0.0	.	51;51	P11597-2;P11597	.;CETP_HUMAN	T	51	ENSP00000200676:A51T;ENSP00000369106:A51T	ENSP00000200676:A51T	A	+	1	0	CETP	55554455	0.970000	0.33590	0.067000	0.19924	0.028000	0.11728	6.237000	0.72345	2.125000	0.65367	0.591000	0.81541	GCC		0.622	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1	NM_000078		12	13	0	0	0	1	0	12	13				
KIAA1244	57221	broad.mit.edu	37	6	138655389	138655389	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138655389C>T	ENST00000251691.4	+	33	5572	c.5406C>T	c.(5404-5406)ggC>ggT	p.G1802G		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCATCGGGGGCGCCGCCAACC	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5404-5406)ggC>ggT		KIAA1244							25.0	26.0	25.0					6																	138655389		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655389C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5406C>T	6.37:g.138655389C>T							p.G1802G	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5572	+	Breast(32;0.135)		1802						Silent	SNP	ENST00000251691.4	37	c.5406C>T	CCDS5189.2																																																																																				0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	7	0	0	0	1	0	4	7				
TRIP12	9320	broad.mit.edu	37	2	230705619	230705619	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230705619C>T	ENST00000283943.5	-	4	1104	c.926G>A	c.(925-927)cGc>cAc	p.R309H	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.R351H|TRIP12_ENST00000389044.4_Missense_Mutation_p.R351H|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	309					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGACTCACTGCGTTTCTTCGT	0.378																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(925-927)cGc>cAc		thyroid hormone receptor interactor 12							42.0	43.0	42.0					2																	230705619		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230705619C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.926G>A	2.37:g.230705619C>T	ENSP00000283943:p.Arg309His					TRIP12_ENST00000409677.1_Missense_Mutation_p.R351H|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.R351H|TRIP12_ENST00000543084.1_Intron	p.R309H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	4	1104	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	309					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.926G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122190	0.94429	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000409677;ENST00000453485	T;T	0.48522	0.83;0.81	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.72075	0.976;0.976;0.976	T	0.59705	-0.7404	10	0.56958	D	0.05	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	309;351;309	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	H	309;351;351;150	ENSP00000283943:R309H;ENSP00000373696:R351H	ENSP00000283943:R309H	R	-	2	0	TRIP12	230413863	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.363000	0.79516	2.854000	0.98071	0.655000	0.94253	CGC		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		13	16	0	0	0	1	0	13	16				
PIK3CA	5290	broad.mit.edu	37	3	178916935	178916935	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178916935C>T	ENST00000263967.3	+	2	479	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G106_R108del(2)|p.G106_R108delGNR(2)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGTAGGCAACCGTGAAGAAAA	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		5	Deletion - In frame(5)	p.G106_R108del(2)|p.G106_R108delGNR(2)|p.R108del(1)	lung(2)|breast(2)|large_intestine(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							88.0	84.0	86.0					3																	178916935		1825	4073	5898	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916935C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.322C>T	3.37:g.178916935C>T	ENSP00000263967:p.Arg108Cys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R108C	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	479	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.322C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847512	0.71603	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.79;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82360	-0.0496	9	.	.	.	-11.9048	12.5332	0.56128	0.2798:0.7202:0.0:0.0	.	108	P42336	PK3CA_HUMAN	C	108	ENSP00000263967:R108C;ENSP00000417479:R108C	.	R	+	1	0	PIK3CA	180399629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.259000	0.65485	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			21	38	0	0	0	1	0	21	38				
KDM6B	23135	broad.mit.edu	37	17	7748892	7748892	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7748892C>T	ENST00000448097.2	+	4	351	c.20C>T	c.(19-21)cCt>cTt	p.P7L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P7L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	7					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGTGGACCCTCCAGGGGCC	0.637																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(19-21)cCt>cTt		lysine (K)-specific demethylase 6B							54.0	58.0	57.0					17																	7748892		2202	4300	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7748892C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.20C>T	17.37:g.7748892C>T	ENSP00000412513:p.Pro7Leu					KDM6B_ENST00000448097.2_Missense_Mutation_p.P7L	p.P7L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			4	409	+			7					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.20C>T		.	.	.	.	.	.	.	.	.	.	C	15.66	2.900339	0.52227	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.30448	1.53;1.53	4.17	4.17	0.49024	.	0.134840	0.34338	N	0.004046	T	0.17874	0.0429	N	0.03608	-0.345	0.49483	D	0.999793	P	0.50528	0.936	P	0.50934	0.654	T	0.03630	-1.1018	10	0.15952	T	0.53	-6.3907	9.5601	0.39364	0.2098:0.7902:0.0:0.0	.	7	O15054-1	.	L	7	ENSP00000254846:P7L;ENSP00000412513:P7L	ENSP00000254846:P7L	P	+	2	0	KDM6B	7689617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.580000	0.46068	2.340000	0.79590	0.542000	0.68232	CCT		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		31	60	0	0	0	1	0	31	60				
EEA1	8411	broad.mit.edu	37	12	93221731	93221731	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:93221731T>C	ENST00000322349.8	-	12	1625	c.1361A>G	c.(1360-1362)cAa>cGa	p.Q454R		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	454	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATCAGCCACTTGTTGTTCTTT	0.408																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1360-1362)cAa>cGa		early endosome antigen 1							182.0	170.0	174.0					12																	93221731		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93221731T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1361A>G	12.37:g.93221731T>C	ENSP00000317955:p.Gln454Arg						p.Q454R	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			12	1625	-			454			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1361A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031428	0.35797	.	.	ENSG00000102189	ENST00000322349	T	0.76448	-1.02	5.63	4.42	0.53409	.	0.549745	0.15396	N	0.264579	T	0.62865	0.2463	L	0.32530	0.975	0.58432	D	0.999994	P	0.39391	0.671	B	0.32211	0.142	T	0.59873	-0.7372	10	0.18276	T	0.48	.	11.6036	0.51017	0.1333:0.0:0.0:0.8667	.	454	Q15075	EEA1_HUMAN	R	454	ENSP00000317955:Q454R	ENSP00000317955:Q454R	Q	-	2	0	EEA1	91745862	1.000000	0.71417	0.973000	0.42090	0.591000	0.36615	5.027000	0.64109	2.149000	0.67028	0.477000	0.44152	CAA		0.408	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		44	57	0	0	0	1	0	44	57				
EYA4	2070	broad.mit.edu	37	6	133783834	133783834	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:133783834G>A	ENST00000367895.5	+	9	1120	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	EYA4_ENST00000355167.3_Missense_Mutation_p.C219Y|EYA4_ENST00000525849.1_Missense_Mutation_p.C196Y|EYA4_ENST00000531901.1_Missense_Mutation_p.C219Y|EYA4_ENST00000452339.2_Missense_Mutation_p.C165Y|EYA4_ENST00000355286.6_Missense_Mutation_p.C196Y|EYA4_ENST00000430974.2_Missense_Mutation_p.C165Y|EYA4_ENST00000431403.2_Missense_Mutation_p.C219Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	219					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGAGTGGCTGCCTCAGTTAC	0.468																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(655-657)tGc>tAc		eyes absent homolog 4 (Drosophila)							84.0	79.0	81.0					6																	133783834		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783834G>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.656G>A	6.37:g.133783834G>A	ENSP00000356870:p.Cys219Tyr					EYA4_ENST00000531901.1_Missense_Mutation_p.C219Y|EYA4_ENST00000355286.6_Missense_Mutation_p.C196Y|EYA4_ENST00000430974.2_Missense_Mutation_p.C165Y|EYA4_ENST00000355167.3_Missense_Mutation_p.C219Y|EYA4_ENST00000525849.1_Missense_Mutation_p.C196Y|EYA4_ENST00000431403.2_Missense_Mutation_p.C219Y|EYA4_ENST00000452339.2_Missense_Mutation_p.C165Y	p.C219Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1120	+	Colorectal(23;0.221)		219					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.656G>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441397	0.43326	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.89746	-2.5;-2.45;-2.56;-2.56;-2.55;-2.56;-2.55;-2.56	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	L	0.29908	0.895	0.49299	D	0.999775	B;B;D;B;P;B	0.60575	0.321;0.013;0.988;0.16;0.534;0.321	B;B;D;B;B;B	0.74348	0.205;0.006;0.983;0.06;0.138;0.205	D	0.83381	0.0012	10	0.05833	T	0.94	-2.3101	16.0263	0.80548	0.0:0.0:0.8646:0.1354	.	219;165;165;196;219;219	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	Y	165;165;219;219;196;219;196;219	ENSP00000395916:C165Y;ENSP00000388670:C165Y;ENSP00000356870:C219Y;ENSP00000347294:C219Y;ENSP00000347434:C196Y;ENSP00000432770:C219Y;ENSP00000433219:C196Y;ENSP00000404558:C219Y	ENSP00000347294:C219Y	C	+	2	0	EYA4	133825527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	1.360000	0.45960	0.650000	0.86243	TGC		0.468	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		22	37	0	0	0	1	0	22	37				
MOGAT3	346606	broad.mit.edu	37	7	100839365	100839365	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100839365G>A	ENST00000223114.4	-	7	1054	c.888C>T	c.(886-888)ccC>ccT	p.P296P	MOGAT3_ENST00000440203.2_Missense_Mutation_p.P325L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.R229C	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	296					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTGGGGGACGGGGATGGGGC	0.672																																						ENST00000440203.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(973-975)cCg>cTg		monoacylglycerol O-acyltransferase 3							23.0	24.0	24.0					7																	100839365		2200	4299	6499	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839365G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.888C>T	7.37:g.100839365G>A						MOGAT3_ENST00000379423.3_Missense_Mutation_p.R229C|MOGAT3_ENST00000223114.4_Silent_p.P296P	p.P325L			Q86VF5	MOGT3_HUMAN			6	1031	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.974C>T	CCDS5714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.090|0.090	-1.168516|-1.168516	0.01660|0.01660	.|.	.|.	ENSG00000106384|ENSG00000106384	ENST00000440203|ENST00000379423	T|T	0.26660|0.31769	1.72|1.48	5.01|5.01	-8.43|-8.43	0.00953|0.00953	.|.	1.113110|.	0.06671|.	N|.	0.766276|.	T|T	0.18759|0.18759	0.0450|0.0450	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999944|0.999944	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29458|0.29458	-1.0011|-1.0011	7|8	0.44086|0.87932	T|D	0.13|0	-25.7954|-25.7954	6.2909|6.2909	0.21059|0.21059	0.3673:0.1912:0.381:0.0605|0.3673:0.1912:0.381:0.0605	.|.	.|229	.|Q86VF5-2	.|.	L|C	325|229	ENSP00000403756:P325L|ENSP00000368734:R229C	ENSP00000403756:P325L|ENSP00000368734:R229C	P|R	-|-	2|1	0|0	MOGAT3|MOGAT3	100626085|100626085	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.074000|0.074000	0.17049|0.17049	-10.653000|-10.653000	0.00005|0.00005	-3.319000|-3.319000	0.00188|0.00188	-4.341000|-4.341000	0.00007|0.00007	CCG|CGT		0.672	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		8	8	0	0	0	1	0	8	8				
KIAA1324	57535	broad.mit.edu	37	1	109714585	109714585	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109714585G>A	ENST00000369939.3	+	4	748	c.565G>A	c.(565-567)Gtt>Att	p.V189I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V189I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	189					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATCTGGCACCGTTAACTTCGA	0.547																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(565-567)Gtt>Att		KIAA1324							157.0	132.0	140.0					1																	109714585		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109714585G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.565G>A	1.37:g.109714585G>A	ENSP00000358955:p.Val189Ile					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V189I	p.V189I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	4	748	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	189					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.565G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107691	0.77096	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.64567	1.98	0.39531	D	0.968669	D;D;D;D	0.89917	0.997;1.0;0.998;0.998	P;D;P;P	0.81914	0.823;0.995;0.868;0.868	T	0.21690	-1.0238	10	0.28530	T	0.3	-22.4934	20.0857	0.97800	0.0:0.0:1.0:0.0	.	189;189;189;189	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	I	189	ENSP00000431349:V189I;ENSP00000358955:V189I;ENSP00000393964:V189I;ENSP00000434595:V189I	ENSP00000358955:V189I	V	+	1	0	KIAA1324	109516108	1.000000	0.71417	0.556000	0.28293	0.646000	0.38490	6.544000	0.73878	2.844000	0.97970	0.650000	0.86243	GTT		0.547	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		37	52	0	0	0	1	0	37	52				
OPN3	23596	broad.mit.edu	37	1	241767744	241767744	+	Missense_Mutation	SNP	C	C	A	rs138070733	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241767744C>A	ENST00000366554.2	-	2	617	c.511G>T	c.(511-513)Gca>Tca	p.A171S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	171					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGAGAGGTGCTCCTGCCCAC	0.542																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(511-513)Gca>Tca		opsin 3		C	SER/ALA	0,4406		0,0,2203	113.0	97.0	103.0		511	3.2	0.9	1	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	OPN3	NM_014322.2	99	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	171/403	241767744	1,13005	2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767744C>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.511G>T	1.37:g.241767744C>A	ENSP00000355512:p.Ala171Ser					OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	p.A171S	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	617	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	171					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.511G>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817636	0.70912	0.0	1.16E-4	ENSG00000054277	ENST00000366554	T	0.37235	1.21	5.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.058463	0.64402	D	0.000002	T	0.53142	0.1778	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.55692	-0.8101	10	0.87932	D	0	.	9.4777	0.38882	0.2867:0.5745:0.1388:0.0	.	171	Q9H1Y3	OPN3_HUMAN	S	171	ENSP00000355512:A171S	ENSP00000355512:A171S	A	-	1	0	OPN3	239834367	1.000000	0.71417	0.918000	0.36340	0.995000	0.86356	3.355000	0.52262	1.202000	0.43218	0.650000	0.86243	GCA		0.542	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		15	21	1	0	1.5739e-10	1	1.6844e-10	15	21				
JADE2	23338	broad.mit.edu	37	5	133914504	133914504	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:133914504G>A	ENST00000282605.4	+	12	2088	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T	PHF15_ENST00000395003.1_Missense_Mutation_p.A624T|PHF15_ENST00000361895.2_Missense_Mutation_p.A625T|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGACAAAGCCCCCAAGAA	0.647																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1870-1872)Gcc>Acc									46.0	52.0	50.0					5																	133914504		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914504G>A																												ENST00000282605.4:c.2002G>A	5.37:g.133914504G>A	ENSP00000282605:p.Ala668Thr					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.A668T|PHF15_ENST00000361895.2_Missense_Mutation_p.A625T	p.A624T	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2049	+			624			Pro-rich.			Missense_Mutation	SNP	ENST00000282605.4	37	c.1870G>A		.	.	.	.	.	.	.	.	.	.	g	2.450	-0.326544	0.05350	.	.	ENSG00000043143	ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.41065	1.01;1.03;1.03	5.25	-9.22	0.00675	.	1.759490	0.03013	N	0.149650	T	0.11281	0.0275	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.13202	-1.0518	10	0.15066	T	0.55	.	3.2412	0.06782	0.3003:0.1844:0.3849:0.1305	.	624;625;684	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	T	684;668;625;625;624	ENSP00000282605:A668T;ENSP00000354425:A625T;ENSP00000378451:A624T	ENSP00000282605:A668T	A	+	1	0	PHF15	133942403	0.000000	0.05858	0.018000	0.16275	0.577000	0.36160	-1.117000	0.03283	-1.200000	0.02662	0.306000	0.20318	GCC		0.647	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			13	18	0	0	0	1	0	13	18				
CDKL5	6792	broad.mit.edu	37	X	18627658	18627658	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:18627658C>A	ENST00000379989.3	+	15	2405	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H	CDKL5_ENST00000379996.3_Missense_Mutation_p.P707H|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	707					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TACAATGATCCTGTGCCAAGG	0.483																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2119-2121)cCt>cAt		cyclin-dependent kinase-like 5							135.0	114.0	121.0					X																	18627658		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18627658C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2120C>A	X.37:g.18627658C>A	ENSP00000369325:p.Pro707His					CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P707H	p.P707H	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			15	2405	+	Hepatocellular(33;0.183)		707					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2120C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633304	0.87660	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.70869	-0.52;-0.52	6.05	6.05	0.98169	.	0.141352	0.64402	D	0.000002	T	0.68165	0.2971	N	0.19112	0.55	0.33582	D	0.599959	D	0.63880	0.993	P	0.49999	0.628	T	0.77568	-0.2539	10	0.87932	D	0	-20.2425	19.48	0.95005	0.0:1.0:0.0:0.0	.	707	O76039	CDKL5_HUMAN	H	707	ENSP00000369332:P707H;ENSP00000369325:P707H	ENSP00000369325:P707H	P	+	2	0	CDKL5	18537579	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.275000	0.78548	2.554000	0.86153	0.591000	0.81541	CCT		0.483	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		38	11	1	0	1.04594e-18	1	1.1551e-18	38	11				
POLR3B	55703	broad.mit.edu	37	12	106857351	106857351	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106857351G>A	ENST00000228347.4	+	23	2888	c.2666G>A	c.(2665-2667)aGg>aAg	p.R889K	POLR3B_ENST00000539066.1_Missense_Mutation_p.R831K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	889					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGACAGACAAGGCGTCCAGAA	0.358																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2665-2667)aGg>aAg		polymerase (RNA) III (DNA directed) polypeptide B							77.0	75.0	75.0					12																	106857351		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106857351G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2666G>A	12.37:g.106857351G>A	ENSP00000228347:p.Arg889Lys					POLR3B_ENST00000539066.1_Missense_Mutation_p.R831K	p.R889K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			23	2888	+			889					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2666G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070151	0.93950	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.84660	-1.88;-1.88	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.038679	0.85682	D	0.000000	D	0.92893	0.7739	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92488	0.5998	10	0.49607	T	0.09	-23.5444	19.5856	0.95488	0.0:0.0:1.0:0.0	.	889	Q9NW08	RPC2_HUMAN	K	889;831	ENSP00000228347:R889K;ENSP00000445721:R831K	ENSP00000228347:R889K	R	+	2	0	POLR3B	105381481	1.000000	0.71417	0.892000	0.35008	0.641000	0.38312	9.827000	0.99397	2.625000	0.88918	0.555000	0.69702	AGG		0.358	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		18	43	0	0	0	1	0	18	43				
CXCL10	3627	broad.mit.edu	37	4	76943936	76943936	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76943936G>A	ENST00000306602.1	-	2	161	c.96C>T	c.(94-96)tgC>tgT	p.C32C	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	32					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATGCTGATGCAGGTACAGC	0.398																																						ENST00000306602.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(94-96)tgC>tgT		chemokine (C-X-C motif) ligand 10							136.0	125.0	128.0					4																	76943936		1926	4136	6062	SO:0001819	synonymous_variant	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943936G>A	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.96C>T	4.37:g.76943936G>A						ART3_ENST00000341029.5_Intron	p.C32C	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	161	-			32					Q96QJ5	Silent	SNP	ENST00000306602.1	37	c.96C>T	CCDS43240.1																																																																																				0.398	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			33	37	0	0	0	1	0	33	37				
ADARB2	105	broad.mit.edu	37	10	1263014	1263014	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1263014C>T	ENST00000381312.1	-	7	1884	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	520	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GATCTTGGTGCGCAGGTGCCC	0.647																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1558-1560)cGc>cAc		adenosine deaminase, RNA-specific, B2 (non-functional)							49.0	43.0	45.0					10																	1263014		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1263014C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1559G>A	10.37:g.1263014C>T	ENSP00000370713:p.Arg520His					ADARB2_ENST00000469464.1_5'UTR	p.R520H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	1884	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	520			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1559G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	36	5.599757	0.96614	.	.	ENSG00000185736	ENST00000381312	D	0.94280	-3.39	5.37	5.37	0.77165	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96866	0.9636	10	0.87932	D	0	-40.1357	19.0884	0.93215	0.0:1.0:0.0:0.0	.	520	Q9NS39	RED2_HUMAN	H	520	ENSP00000370713:R520H	ENSP00000370713:R520H	R	-	2	0	ADARB2	1253014	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.701000	0.84566	2.501000	0.84356	0.491000	0.48974	CGC		0.647	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		4	3	0	0	0	1	0	4	3				
CCAR1	55749	broad.mit.edu	37	10	70545919	70545919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70545919C>T	ENST00000265872.6	+	20	2796	c.2677C>T	c.(2677-2679)Cga>Tga	p.R893*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R878*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R878*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	893					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AATGACCAAACGAGATGACAA	0.348																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2677-2679)Cga>Tga		cell division cycle and apoptosis regulator 1							111.0	103.0	106.0					10																	70545919		2203	4300	6503	SO:0001587	stop_gained	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70545919C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2677C>T	10.37:g.70545919C>T	ENSP00000265872:p.Arg893*					CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R878*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R878*	p.R893*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			20	2796	+			893					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.2677C>T	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.978434|6.978434	0.97979|0.97979	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539|ENST00000543706	.|.	.|.	.|.	5.35|5.35	-0.399|-0.399	0.12415|0.12415	.|.	0.090836|.	0.51477|.	D|.	0.000094|.	.|T	.|0.61949	.|0.2388	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68957	.|-0.5272	.|3	0.09084|.	T|.	0.74|.	-9.9281|-9.9281	15.8299|15.8299	0.78743|0.78743	0.5833:0.4167:0.0:0.0|0.5833:0.4167:0.0:0.0	.|.	.|.	.|.	.|.	X|M	893;878;878;878|182	.|.	ENSP00000265872:R893X|.	R|T	+|+	1|2	2|0	CCAR1|CCAR1	70215925|70215925	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.788000|0.788000	0.44548|0.44548	1.059000|1.059000	0.30517|0.30517	0.020000|0.020000	0.15106|0.15106	-0.181000|-0.181000	0.13052|0.13052	CGA|ACG		0.348	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		7	15	0	0	0	1	0	7	15				
SCYL1	57410	broad.mit.edu	37	11	65302765	65302765	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65302765C>T	ENST00000270176.5	+	10	1375	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	SCYL1_ENST00000533862.1_Missense_Mutation_p.A433V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A433V|SCYL1_ENST00000524944.1_Missense_Mutation_p.A433V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A433V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A290V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A433V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	433					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						AAGCACTTTGCACGGCTACAG	0.582																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1297-1299)gCa>gTa		SCY1-like 1 (S. cerevisiae)							121.0	125.0	124.0					11																	65302765		2168	4260	6428	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302765C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1298C>T	11.37:g.65302765C>T	ENSP00000270176:p.Ala433Val					SCYL1_ENST00000270176.5_Missense_Mutation_p.A433V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A433V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A433V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A433V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A433V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A290V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A433V	p.A433V			Q96KG9	NTKL_HUMAN			10	1331	+			433					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1298C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982952	0.74474	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.81682	2.555	0.80722	D	1	B;P;B;B;P	0.43287	0.376;0.802;0.317;0.107;0.558	B;P;B;B;B	0.45343	0.213;0.477;0.177;0.127;0.213	T	0.53143	-0.8480	10	0.62326	D	0.03	-6.6531	14.9939	0.71415	0.0:1.0:0.0:0.0	.	433;433;433;433;433	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	V	433;433;433;433;433;433;433;433;290	ENSP00000270176:A433V;ENSP00000431635:A433V;ENSP00000408192:A433V;ENSP00000437254:A433V;ENSP00000433450:A433V;ENSP00000279270:A433V;ENSP00000432175:A433V;ENSP00000436993:A290V	ENSP00000270176:A433V	A	+	2	0	SCYL1	65059341	0.991000	0.36638	0.979000	0.43373	0.944000	0.59088	4.125000	0.57931	2.138000	0.66242	0.313000	0.20887	GCA		0.582	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		7	56	0	0	0	1	0	7	56				
KCMF1	56888	broad.mit.edu	37	2	85273242	85273242	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85273242G>A	ENST00000409785.4	+	5	801	c.442G>A	c.(442-444)Gtt>Att	p.V148I		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	148							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ATCGAGTGGTGTTCGACATGT	0.413																																						ENST00000409785.3																			0				ovary(3)	3						c.(442-444)Gtt>Att		potassium channel modulatory factor 1							116.0	104.0	108.0					2																	85273242		1880	4097	5977	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85273242G>A	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.442G>A	2.37:g.85273242G>A	ENSP00000386738:p.Val148Ile						p.V148I	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			5	801	+			148					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.442G>A	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892615	0.33442	.	.	ENSG00000176407	ENST00000409785;ENST00000453448	T	0.43688	0.94	5.83	5.83	0.93111	Drought induced 19/ RING finger protein 114 (1);	0.117224	0.64402	D	0.000013	T	0.25232	0.0613	N	0.11427	0.14	0.58432	D	0.999999	B	0.26258	0.145	B	0.17979	0.02	T	0.10245	-1.0638	10	0.14252	T	0.57	-3.7841	17.6156	0.88066	0.0:0.0:1.0:0.0	.	148	Q9P0J7	KCMF1_HUMAN	I	148;97	ENSP00000386738:V148I	ENSP00000386738:V148I	V	+	1	0	KCMF1	85126753	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.026000	0.88783	2.763000	0.94921	0.561000	0.74099	GTT		0.413	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		6	19	0	0	0	1	0	6	19				
OR1L6	392390	broad.mit.edu	37	9	125512085	125512085	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125512085C>A	ENST00000373684.1	+	1	67	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	OR1L6_ENST00000304720.2_5'Flank			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTTACATCTCTCCCACTGCT	0.448																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(67-69)Ctc>Atc		olfactory receptor, family 1, subfamily L, member 6							145.0	143.0	144.0					9																	125512085		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512085C>A		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.67C>A	9.37:g.125512085C>A	ENSP00000362788:p.Leu23Ile						p.L23I			Q8NGR2	OR1L6_HUMAN			1	67	+			23					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.67C>A		.	.	.	.	.	.	.	.	.	.	.	9.215	1.031959	0.19590	.	.	ENSG00000171459	ENST00000373684	T	0.06528	3.29	4.44	0.0364	0.14191	.	.	.	.	.	T	0.03305	0.0096	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.45264	-0.9273	8	0.32370	T	0.25	.	0.4565	0.00509	0.1838:0.2892:0.1797:0.3472	.	23	Q8NGR2	OR1L6_HUMAN	I	23	ENSP00000362788:L23I	ENSP00000362788:L23I	L	+	1	0	OR1L6	124551906	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.022000	0.12480	0.130000	0.18549	0.655000	0.94253	CTC		0.448	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				42	52	1	0	2.215e-12	1	2.39657e-12	42	52				
MAB21L1	4081	broad.mit.edu	37	13	36049680	36049680	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36049680C>T	ENST00000379919.4	-	1	1152	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	199					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CTCCGCCACCCGGTTGGGTCC	0.647																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(595-597)cGg>cAg		mab-21-like 1 (C. elegans)							42.0	50.0	47.0					13																	36049680		2203	4299	6502	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049680C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.596G>A	13.37:g.36049680C>T	ENSP00000369251:p.Arg199Gln					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	p.R199Q	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1152	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	199					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.596G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761942	0.69763	.	.	ENSG00000180660	ENST00000379919	T	0.08193	3.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	L	0.29908	0.895	0.80722	D	1	P	0.51449	0.945	P	0.45310	0.476	T	0.23833	-1.0177	10	0.22706	T	0.39	-49.1114	19.9576	0.97228	0.0:1.0:0.0:0.0	.	199	Q13394	MB211_HUMAN	Q	199	ENSP00000369251:R199Q	ENSP00000369251:R199Q	R	-	2	0	MAB21L1	34947680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	CGG		0.647	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		20	45	0	0	0	1	0	20	45				
RTN1	6252	broad.mit.edu	37	14	60069953	60069953	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60069953G>A	ENST00000267484.5	-	7	2541	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.P168S|RTN1_ENST00000395090.1_Missense_Mutation_p.P153S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	736	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAAC	0.303																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P736S(1)	lung(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(2206-2208)Cct>Tct		reticulon 1							61.0	59.0	60.0					14																	60069953		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2206C>T	14.37:g.60069953G>A	ENSP00000267484:p.Pro736Ser					RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.P168S|RTN1_ENST00000395090.1_Missense_Mutation_p.P153S	p.P736S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2541	-			736			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2206C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187437	0.94923	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.77358	-1.09;-1.09;-1.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92215	0.7531	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93022	0.6441	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	153;736;168	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	S	316;736;153;168;662	ENSP00000267484:P736S;ENSP00000378525:P153S;ENSP00000340716:P168S	ENSP00000267484:P736S	P	-	1	0	RTN1	59139706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT		0.303	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			28	39	0	0	0	1	0	28	39				
CYTIP	9595	broad.mit.edu	37	2	158283926	158283926	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158283926C>T	ENST00000264192.3	-	6	604	c.483G>A	c.(481-483)gaG>gaA	p.E161E	CYTIP_ENST00000540637.1_Silent_p.E55E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	161	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTAAGAGTCTCTATCCTGT	0.353																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(481-483)gaG>gaA		cytohesin 1 interacting protein							47.0	46.0	46.0					2																	158283926		2201	4297	6498	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158283926C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.483G>A	2.37:g.158283926C>T						CYTIP_ENST00000540637.1_Silent_p.E55E	p.E161E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			6	604	-			161			PDZ.		B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.483G>A	CCDS2204.1																																																																																				0.353	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	13	0	0	0	1	0	7	13				
ABCC6	368	broad.mit.edu	37	16	16259662	16259662	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:16259662C>T	ENST00000205557.7	-	23	3153	c.3124G>A	c.(3124-3126)Ggt>Agt	p.G1042S		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1042	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGCAGGTGACCAATGGGTGTC	0.582																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM061627	ABCC6	M		c.(3124-3126)Ggt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							112.0	85.0	94.0					16																	16259662		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16259662C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3124G>A	16.37:g.16259662C>T	ENSP00000205557:p.Gly1042Ser						p.G1042S	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	23	3153	-			1042			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3124G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174138	0.78452	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.97529	-4.42	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.49916	U	0.000140	D	0.99064	0.9679	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.87932	D	0	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	1042	O95255	MRP6_HUMAN	S	1042;47	ENSP00000205557:G1042S	ENSP00000205557:G1042S	G	-	1	0	ABCC6	16167163	1.000000	0.71417	0.951000	0.38953	0.060000	0.15804	7.344000	0.79328	2.586000	0.87340	0.561000	0.74099	GGT		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			9	38	0	0	0	1	0	9	38				
OR6K2	81448	broad.mit.edu	37	1	158670285	158670285	+	Missense_Mutation	SNP	G	G	A	rs147682709	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158670285G>A	ENST00000359610.2	-	1	201	c.158C>T	c.(157-159)aCt>aTt	p.T53I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GTGGAGGTGAGTATTCAACTG	0.443																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(157-159)aCt>aTt		olfactory receptor, family 6, subfamily K, member 2							110.0	104.0	106.0					1																	158670285		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670285G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.158C>T	1.37:g.158670285G>A	ENSP00000352626:p.Thr53Ile						p.T53I	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	201	-	all_hematologic(112;0.0378)		53					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.158C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.102308	0.01828	.	.	ENSG00000196171	ENST00000359610	T	0.00421	7.46	4.67	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	0.756258	0.11164	N	0.592737	T	0.00109	0.0003	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15263	-1.0443	10	0.39692	T	0.17	-0.599	6.5533	0.22446	0.2616:0.3247:0.4137:0.0	.	53	Q8NGY2	OR6K2_HUMAN	I	53	ENSP00000352626:T53I	ENSP00000352626:T53I	T	-	2	0	OR6K2	156936909	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-3.252000	0.00539	-0.607000	0.05738	-0.175000	0.13238	ACT		0.443	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		14	22	0	0	0	1	0	14	22				
APEH	327	broad.mit.edu	37	3	49720516	49720516	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49720516G>A	ENST00000296456.5	+	21	2430	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	APEH_ENST00000438011.1_Missense_Mutation_p.R682H|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	677					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGGACCGGCGTGTGCCCTTC	0.597																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(2029-2031)cGt>cAt		acylaminoacyl-peptide hydrolase							94.0	83.0	87.0					3																	49720516		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49720516G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.2030G>A	3.37:g.49720516G>A	ENSP00000296456:p.Arg677His					APEH_ENST00000438011.1_Missense_Mutation_p.R682H	p.R677H	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	21	2430	+			677					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.2030G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420172	0.96111	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.39229	1.09;1.09	5.88	5.88	0.94601	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83295	-0.0031	10	0.87932	D	0	-14.5056	20.2422	0.98381	0.0:0.0:1.0:0.0	.	682;677	C9JIF9;P13798	.;ACPH_HUMAN	H	677;682	ENSP00000296456:R677H;ENSP00000415862:R682H	ENSP00000296456:R677H	R	+	2	0	APEH	49695520	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	9.412000	0.97347	2.782000	0.95742	0.655000	0.94253	CGT		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	12	0	0	0	1	0	4	12				
PPRC1	23082	broad.mit.edu	37	10	103908197	103908197	+	Missense_Mutation	SNP	C	C	T	rs201734122		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103908197C>T	ENST00000278070.2	+	10	4508	c.4469C>T	c.(4468-4470)tCg>tTg	p.S1490L	PPRC1_ENST00000370012.1_Missense_Mutation_p.S457L|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.S1226L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1490	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		tcttcctcttcgtcttcctca	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20006	0.001		0.0	False		,,,				2504	0.0					ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4468-4470)tCg>tTg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							196.0	137.0	157.0					10																	103908197		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908197C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4469C>T	10.37:g.103908197C>T	ENSP00000278070:p.Ser1490Leu					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.S457L|PPRC1_ENST00000413464.2_Missense_Mutation_p.S1226L	p.S1490L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4508	+		Colorectal(252;0.122)	1490			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4469C>T	CCDS7529.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.131	1.011512	0.19277	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.62788	-0.0;-0.0;-0.0	5.43	5.43	0.79202	.	0.384288	0.28834	N	0.013999	T	0.47395	0.1443	N	0.14661	0.345	0.35691	D	0.814864	D;D;D	0.59357	0.985;0.975;0.985	B;B;B	0.43331	0.416;0.396;0.416	T	0.59521	-0.7439	10	0.41790	T	0.15	.	14.2335	0.65908	0.0:0.851:0.149:0.0	.	1226;1370;1490	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1490;1226;457	ENSP00000278070:S1490L;ENSP00000399743:S1226L;ENSP00000359029:S457L	ENSP00000278070:S1490L	S	+	2	0	PPRC1	103898187	0.871000	0.30034	0.873000	0.34254	0.937000	0.57800	3.596000	0.54024	2.704000	0.92352	0.549000	0.68633	TCG		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		23	33	0	0	0	1	0	23	33				
AHCY	191	broad.mit.edu	37	20	32873427	32873427	+	Missense_Mutation	SNP	C	C	T	rs116262714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32873427C>T	ENST00000217426.2	-	9	1063	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Missense_Mutation_p.R301Q	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	329					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCTTCAACCGATACCGGTC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15203	0.0		0.0	False		,,,				2504	0.0					ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(901-903)cGg>cAg		adenosylhomocysteinase							55.0	46.0	49.0					20																	32873427		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873427C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.986G>A	20.37:g.32873427C>T	ENSP00000217426:p.Arg329Gln					AHCY_ENST00000217426.2_Missense_Mutation_p.R329Q	p.R301Q	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			9	1288	-			329					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.902G>A	CCDS13233.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	3.829	-0.036144	0.07497	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.76709	-1.04;-1.03	5.01	-8.72	0.00845	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	2.313190	0.01323	N	0.010993	T	0.55513	0.1925	N	0.20881	0.62	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40079	-0.9582	10	0.21540	T	0.41	.	1.9096	0.03284	0.479:0.1192:0.1353:0.2664	.	329	P23526	SAHH_HUMAN	Q	329;301	ENSP00000217426:R329Q;ENSP00000442820:R301Q	ENSP00000217426:R329Q	R	-	2	0	AHCY	32337088	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.408000	0.07169	-1.141000	0.02873	-0.314000	0.08810	CGG		0.637	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		9	19	0	0	0	1	0	9	19				
DSCR10	259234	broad.mit.edu	37	21	39580630	39580630	+	lincRNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:39580630G>T	ENST00000432141.1	+	0	752					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		AAACATCAAAGGTTCAAAAAA	0.284																																						ENST00000432141.1																			0																																																			0							g.chr21:39580630G>T	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580630G>T								NR_027695.1						0	752	+								Q52LN2	RNA	SNP	ENST00000432141.1	37																																																																																						0.284	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		19	7	1	0	1.67942e-08	1	1.77343e-08	19	7				
PPIL4	85313	broad.mit.edu	37	6	149833429	149833429	+	Silent	SNP	G	G	A	rs368515515		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149833429G>A	ENST00000253329.2	-	12	1121	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	PPIL4_ENST00000340881.2_De_novo_Start_InFrame	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	363	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATATAAGATCGTATTTTGTAC	0.348																																						ENST00000340881.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13								peptidylprolyl isomerase (cyclophilin)-like 4		G		1,4403	2.1+/-5.4	0,1,2201	161.0	150.0	154.0		1089	-4.2	0.9	6		154	0,8600		0,0,4300	no	coding-synonymous	PPIL4	NM_139126.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		363/493	149833429	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149833429G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1089C>T	6.37:g.149833429G>A						PPIL4_ENST00000253329.2_Silent_p.Y363Y				Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	0	520	-		Ovarian(120;0.0164)						B2RD34|Q7Z3Q5	Translation_Start_Site	SNP	ENST00000253329.2	37		CCDS34550.1																																																																																				0.348	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			5	83	0	0	0	1	0	5	83				
SCP2	6342	broad.mit.edu	37	1	53444040	53444040	+	Splice_Site	SNP	G	G	A	rs144132787	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53444040G>A	ENST00000528311.1	+	8	878		c.e8+1		SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000371514.3_Splice_Site|SCP2_ENST00000407246.2_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000473584.1_Splice_Site	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TATTAAAATGGTATGTCTGAG	0.313																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.e9+1		sterol carrier protein 2							82.0	82.0	82.0					1																	53444040		2203	4300	6503	SO:0001630	splice_region_variant	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53444040G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.582+1G>A	1.37:g.53444040G>A						SCP2_ENST00000473584.1_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000528311.1_Splice_Site|SCP2_ENST00000407246.2_Splice_Site		NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			9	993	+								A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000528311.1	37		CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547414	0.65311	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513;ENST00000529363	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3533	0.90345	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCP2	53216628	1.000000	0.71417	0.926000	0.36857	0.617000	0.37484	8.536000	0.90627	2.651000	0.90000	0.650000	0.86243	.		0.313	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979	Intron	20	26	0	0	0	1	0	20	26				
IQGAP3	128239	broad.mit.edu	37	1	156506973	156506973	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156506973G>A	ENST00000361170.2	-	27	3432	c.3422C>T	c.(3421-3423)cCg>cTg	p.P1141L	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1141	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.P1141Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCACATACGGAATTTGGTC	0.582																																						ENST00000361170.2																			1	Substitution - Missense(1)	p.P1141Q(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.e27+1		IQ motif containing GTPase activating protein 3							151.0	128.0	136.0					1																	156506973		2203	4300	6503	SO:0001630	splice_region_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156506973G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3422+1C>T	1.37:g.156506973G>A						IQGAP3_ENST00000498755.1_5'UTR	p.P1141_splice	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			27	3432	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1141			Ras-GAP.		Q5T3H8	Splice_Site	SNP	ENST00000361170.2	37	c.3422_splice	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.193231	0.94960	.	.	ENSG00000183856	ENST00000361170	D	0.97529	-4.42	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	D	0.99271	1.0893	10	0.87932	D	0	-32.7915	16.8795	0.86060	0.0:0.0:1.0:0.0	.	1141	Q86VI3	IQGA3_HUMAN	L	1141	ENSP00000354451:P1141L	ENSP00000354451:P1141L	P	-	2	0	IQGAP3	154773597	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	CCG		0.582	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	Missense_Mutation	31	40	0	0	0	1	0	31	40				
PDE6B	5158	broad.mit.edu	37	4	656356	656356	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:656356G>A	ENST00000496514.1	+	14	1802	c.1781G>A	c.(1780-1782)gGc>gAc	p.G594D	PDE6B_ENST00000255622.6_Missense_Mutation_p.G594D|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.G315D			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	594					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTGACAGCCGGCCTGTGCCAT	0.592																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1780-1782)gGc>gAc		phosphodiesterase 6B, cGMP-specific, rod, beta							80.0	72.0	75.0					4																	656356		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:656356G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1781G>A	4.37:g.656356G>A	ENSP00000420295:p.Gly594Asp					PDE6B_ENST00000496514.1_Missense_Mutation_p.G594D|PDE6B_ENST00000429163.2_Missense_Mutation_p.G315D	p.G594D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			14	1824	+			594					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1781G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243545	0.79912	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78126	-1.15;-1.15;-1.15	4.55	4.55	0.56014	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.111097	0.64402	D	0.000011	D	0.83543	0.5277	L	0.55990	1.75	0.53688	D	0.999972	P;P	0.52463	0.922;0.953	P;P	0.60609	0.826;0.877	D	0.85557	0.1225	10	0.72032	D	0.01	.	14.7893	0.69827	0.0:0.0:1.0:0.0	.	594;594	P35913;P35913-2	PDE6B_HUMAN;.	D	594;594;315	ENSP00000255622:G594D;ENSP00000420295:G594D;ENSP00000406334:G315D	ENSP00000255622:G594D	G	+	2	0	PDE6B	646356	1.000000	0.71417	0.925000	0.36789	0.976000	0.68499	5.724000	0.68500	2.059000	0.61396	0.639000	0.83563	GGC		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		6	24	0	0	0	1	0	6	24				
CCDC88B	283234	broad.mit.edu	37	11	64121263	64121263	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64121263C>T	ENST00000356786.5	+	23	3954	c.3910C>T	c.(3910-3912)Cct>Tct	p.P1304S	CCDC88B_ENST00000301897.4_Silent_p.S22S|CCDC88B_ENST00000359902.2_Missense_Mutation_p.P456S|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1304						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTGCTGGAGCCTGTGCCCCT	0.647																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3910-3912)Cct>Tct		coiled-coil domain containing 88B							139.0	138.0	138.0					11																	64121263		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64121263C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3910C>T	11.37:g.64121263C>T	ENSP00000349238:p.Pro1304Ser					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.P456S|CCDC88B_ENST00000301897.4_Silent_p.S22S	p.P1304S	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			23	3954	+			1304					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3910C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	19.46	3.832274	0.71258	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.56275	0.47;0.47	3.07	3.07	0.35406	.	.	.	.	.	T	0.65417	0.2689	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;D;D;D	0.91635	0.997;0.969;0.999;0.997	T	0.64672	-0.6352	8	.	.	.	.	9.7591	0.40522	0.0:1.0:0.0:0.0	.	1304;1186;440;1304	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	S	1186;1304;456	ENSP00000349238:P1304S;ENSP00000352974:P456S	.	P	+	1	0	CCDC88B	63877839	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	4.795000	0.62489	1.698000	0.51180	0.462000	0.41574	CCT		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		23	33	0	0	0	1	0	23	33				
TCHH	7062	broad.mit.edu	37	1	152082617	152082617	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152082617G>A	ENST00000368804.1	-	2	3075	c.3076C>T	c.(3076-3078)Ctg>Ttg	p.L1026L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1026	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCTGCAGCTCGTCTTTT	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3076-3078)Ctg>Ttg		trichohyalin							105.0	107.0	106.0					1																	152082617		1982	4148	6130	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082617G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3076C>T	1.37:g.152082617G>A							p.L1026L	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3075	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1026			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3076C>T	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		42	90	0	0	0	1	0	42	90				
CGNL1	84952	broad.mit.edu	37	15	57809088	57809088	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57809088C>T	ENST00000281282.5	+	9	2592	c.2514C>T	c.(2512-2514)agC>agT	p.S838S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	838						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGGAAGAAGCGAAGAGCTGG	0.552																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2512-2514)agC>agT		cingulin-like 1							68.0	62.0	64.0					15																	57809088		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57809088C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2514C>T	15.37:g.57809088C>T							p.S838S	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	9	2592	+			838					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.2514C>T	CCDS10161.1																																																																																				0.552	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		10	11	0	0	0	1	0	10	11				
SSH3	54961	broad.mit.edu	37	11	67072437	67072437	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67072437C>A	ENST00000308127.4	+	3	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I	SSH3_ENST00000308298.7_Missense_Mutation_p.L100I|SSH3_ENST00000376757.5_Missense_Mutation_p.L100I|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	100					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCACCTGCACCTCATGGTACA	0.652																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(298-300)Ctc>Atc		slingshot protein phosphatase 3							38.0	38.0	38.0					11																	67072437		2198	4295	6493	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67072437C>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.298C>A	11.37:g.67072437C>A	ENSP00000312081:p.Leu100Ile					SSH3_ENST00000376757.5_Missense_Mutation_p.L100I|SSH3_ENST00000308298.7_Missense_Mutation_p.L100I|SSH3_ENST00000532181.1_3'UTR	p.L100I	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	476	+			100					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.298C>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134446	0.37630	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.31769	3.79;1.48;3.83	5.06	5.06	0.68205	.	0.789074	0.11176	N	0.591479	T	0.26810	0.0656	L	0.38531	1.155	0.26926	N	0.966567	B	0.22909	0.077	B	0.24394	0.053	T	0.12889	-1.0530	10	0.18276	T	0.48	-17.3169	13.9288	0.63981	0.0:1.0:0.0:0.0	.	100	Q8TE77	SSH3_HUMAN	I	100	ENSP00000312081:L100I;ENSP00000310055:L100I;ENSP00000365948:L100I	ENSP00000312081:L100I	L	+	1	0	SSH3	66829013	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	1.750000	0.38329	2.354000	0.79902	0.561000	0.74099	CTC		0.652	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		5	18	1	0	8.12818e-05	1	8.34155e-05	5	18				
C8A	731	broad.mit.edu	37	1	57341738	57341738	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57341738G>A	ENST00000361249.3	+	4	416	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	107	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TCTCCAGGTCGCTGCCTGAAA	0.537																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(319-321)cGc>cAc		complement component 8, alpha polypeptide							85.0	76.0	79.0					1																	57341738		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341738G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.320G>A	1.37:g.57341738G>A	ENSP00000354458:p.Arg107His						p.R107H	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			4	416	+			107			LDL-receptor class A.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.320G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528023	0.96446	.	.	ENSG00000157131	ENST00000361249	D	0.87729	-2.29	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92675	0.6153	10	0.87932	D	0	-24.0548	20.1346	0.98019	0.0:0.0:1.0:0.0	.	107	P07357	CO8A_HUMAN	H	107	ENSP00000354458:R107H	ENSP00000354458:R107H	R	+	2	0	C8A	57114326	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.891000	0.92485	2.765000	0.95021	0.655000	0.94253	CGC		0.537	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		9	10	0	0	0	1	0	9	10				
TFCP2	7024	broad.mit.edu	37	12	51495718	51495718	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51495718C>T	ENST00000257915.5	-	11	1609	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Splice_Site_p.R333Q|TFCP2_ENST00000307660.4_Splice_Site_p.R333Q	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	384	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATTACATACCGGCCTTTTAA	0.358																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.e10+1		transcription factor CP2							57.0	59.0	58.0					12																	51495718		2203	4298	6501	SO:0001630	splice_region_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51495718C>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1151+1G>A	12.37:g.51495718C>T						TFCP2_ENST00000257915.5_Splice_Site_p.R384_splice|TFCP2_ENST00000548115.1_Splice_Site_p.R333_splice|TFCP2_ENST00000549867.1_Intron	p.R333_splice	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			10	1718	-			384			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Splice_Site	SNP	ENST00000257915.5	37	c.998_splice	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899310	0.91962	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.59502	1.83;0.28;0.26;1.79	4.55	4.55	0.56014	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.85630	2.765	0.58432	D	0.999998	D;D;D	0.76494	0.988;0.999;0.998	P;D;P	0.66847	0.737;0.947;0.886	T	0.79938	-0.1592	9	.	.	.	-21.6723	17.2924	0.87160	0.0:1.0:0.0:0.0	.	333;384;384	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	Q	384;333;333;286	ENSP00000257915:R384Q;ENSP00000304411:R333Q;ENSP00000447991:R333Q;ENSP00000449280:R286Q	.	R	-	2	0	TFCP2	49781985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.816000	0.96949	0.563000	0.77884	CGG		0.358	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	Missense_Mutation	33	50	0	0	0	1	0	33	50				
PNPLA7	375775	broad.mit.edu	37	9	140361841	140361841	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140361841G>T	ENST00000277531.4	-	25	3078	c.2892C>A	c.(2890-2892)gcC>gcA	p.A964A	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.A570A|PNPLA7_ENST00000406427.1_Silent_p.A989A	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	964	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CACCCACGAAGGCCCCGATGG	0.657																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2965-2967)gcC>gcA		patatin-like phospholipase domain containing 7							108.0	85.0	93.0					9																	140361841		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361841G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2892C>A	9.37:g.140361841G>T						PNPLA7_ENST00000277531.4_Silent_p.A964A|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.A570A	p.A989A	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3303	-	all_cancers(76;0.126)		964			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2967C>A	CCDS7045.1																																																																																				0.657	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		6	27	1	0	0.00116845	1	0.0011864	6	27				
PIWIL1	9271	broad.mit.edu	37	12	130827193	130827193	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:130827193G>A	ENST00000245255.3	+	2	329	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	19					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGGAGACAGCGCAGCTGGTGG	0.493																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(55-57)gcG>gcA		piwi-like RNA-mediated gene silencing 1							33.0	43.0	40.0					12																	130827193		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827193G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.57G>A	12.37:g.130827193G>A							p.A19A	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	2	329	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		19					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.57G>A	CCDS9268.1																																																																																				0.493	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			8	10	0	0	0	1	0	8	10				
IARS	3376	broad.mit.edu	37	9	95019010	95019010	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95019010G>T	ENST00000375643.3	-	20	2355	c.2089C>A	c.(2089-2091)Ctg>Atg	p.L697M	IARS_ENST00000443024.2_Missense_Mutation_p.L697M|IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000447699.2_Missense_Mutation_p.L587M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	697					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATGAAGGACAGGATCCACCGG	0.433																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2089-2091)Ctg>Atg		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						138.0	130.0	133.0					9																	95019010		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95019010G>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2089C>A	9.37:g.95019010G>T	ENSP00000364794:p.Leu697Met					IARS_ENST00000447699.2_Missense_Mutation_p.L587M|IARS_ENST00000443024.2_Missense_Mutation_p.L697M|IARS_ENST00000375629.3_De_novo_Start_InFrame	p.L697M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			20	2355	-			697					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.2089C>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982508	0.74474	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.25912	1.77;1.77;1.77	5.7	4.8	0.61643	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.133774	0.52532	D	0.000069	T	0.44953	0.1318	M	0.86573	2.825	0.80722	D	1	P;P	0.37731	0.607;0.571	P;B	0.49421	0.61;0.403	T	0.47156	-0.9139	10	0.59425	D	0.04	-9.6677	8.7915	0.34854	0.0758:0.0:0.7735:0.1506	.	697;542	P41252;Q6P0M4	SYIC_HUMAN;.	M	697;697;587;697	ENSP00000364794:L697M;ENSP00000406448:L697M;ENSP00000415020:L587M	ENSP00000364794:L697M	L	-	1	2	IARS	94058831	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.286000	0.58995	2.680000	0.91292	0.561000	0.74099	CTG		0.433	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		22	29	1	0	5.35356e-11	1	5.74024e-11	22	29				
OPRD1	4985	broad.mit.edu	37	1	29189256	29189256	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29189256G>A	ENST00000234961.2	+	3	822	c.580G>A	c.(580-582)Ggg>Agg	p.G194R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	194					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGGCCCAGACGGGGCAGTGGT	0.632																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(580-582)Ggg>Agg		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						86.0	65.0	72.0					1																	29189256		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189256G>A	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.580G>A	1.37:g.29189256G>A	ENSP00000234961:p.Gly194Arg						p.G194R	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	822	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	194					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.580G>A	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262840	0.39995	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.71341	-0.56	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.062190	0.64402	D	0.000003	T	0.80701	0.4673	M	0.87547	2.89	0.27327	N	0.956879	D	0.58970	0.984	P	0.53035	0.716	T	0.76211	-0.3042	10	0.49607	T	0.09	.	13.7575	0.62946	0.0:0.0:1.0:0.0	.	194	P41143	OPRD_HUMAN	R	194	ENSP00000234961:G194R	ENSP00000234961:G194R	G	+	1	0	OPRD1	29061843	1.000000	0.71417	0.438000	0.26821	0.302000	0.27658	5.047000	0.64232	2.093000	0.63338	0.462000	0.41574	GGG		0.632	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		8	15	0	0	0	1	0	8	15				
STPG2	285555	broad.mit.edu	37	4	98762082	98762082	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:98762082A>G	ENST00000295268.3	-	9	1135	c.1046T>C	c.(1045-1047)gTt>gCt	p.V349A	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	349																	CGCTGGAATAACCTGAAAAAA	0.328																																						ENST00000295268.3																			0											c.e9-1		sperm-tail PG-rich repeat containing 2							46.0	49.0	48.0					4																	98762082		2203	4297	6500	SO:0001630	splice_region_variant	285555							g.chr4:98762082A>G	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1045-1T>C	4.37:g.98762082A>G						STPG2_ENST00000506482.1_Intron	p.V349_splice	NM_174952.2	NP_777612.1					9	1135	-									Splice_Site	SNP	ENST00000295268.3	37	c.1044_splice	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	1.378	-0.584097	0.03827	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.39997	1.05;2.87	5.47	-6.5	0.01884	.	0.961496	0.08451	N	0.943953	T	0.17959	0.0431	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.17623	-1.0363	10	0.29301	T	0.29	-10.9633	3.3891	0.07282	0.1433:0.4276:0.0963:0.3328	.	349	Q8N412	CD037_HUMAN	A	63;349	ENSP00000428346:V63A;ENSP00000295268:V349A	ENSP00000295268:V349A	V	-	2	0	C4orf37	98981105	0.000000	0.05858	0.007000	0.13788	0.602000	0.36980	-2.293000	0.01145	-0.914000	0.03827	-0.446000	0.05623	GTT		0.328	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	Missense_Mutation	26	40	0	0	0	1	0	26	40				
EPHA6	285220	broad.mit.edu	37	3	97167521	97167521	+	Missense_Mutation	SNP	C	C	T	rs368808214		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97167521C>T	ENST00000389672.5	+	7	1879	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	520						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGAGAACTGCGACAGGATAC	0.413																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1840-1842)gCg>gTg		EPH receptor A6		C	VAL/ALA,	1,3803		0,1,1901	103.0	101.0	102.0		1841,	5.4	0.9	3		102	0,8278		0,0,4139	no	missense,utr-5	EPHA6	NM_001080448.2,NM_173655.2	64,	0,1,6040	TT,TC,CC		0.0,0.0263,0.0083	possibly-damaging,	614/1131,	97167521	1,12081	1902	4139	6041	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97167521C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1841C>T	3.37:g.97167521C>T	ENSP00000374323:p.Ala614Val					EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	p.A614V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			7	1879	+			519					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1841C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410134	0.25465	2.63E-4	0.0	ENSG00000080224	ENST00000389672	T	0.57907	0.37	5.41	5.41	0.78517	.	.	.	.	.	T	0.55386	0.1917	L	0.37466	1.105	0.80722	D	1	.	.	.	.	.	.	T	0.43829	-0.9367	7	0.19590	T	0.45	.	19.2114	0.93757	0.0:1.0:0.0:0.0	.	.	.	.	V	614	ENSP00000374323:A614V	ENSP00000374323:A614V	A	+	2	0	EPHA6	98650211	1.000000	0.71417	0.856000	0.33681	0.353000	0.29299	5.743000	0.68655	2.544000	0.85801	0.655000	0.94253	GCG		0.413	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		17	32	0	0	0	1	0	17	32				
TMEM120A	83862	broad.mit.edu	37	7	75621505	75621505	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75621505C>A	ENST00000338761.4	-	0	362				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											AAGAAGAGGCCTTGGCGCTCT	0.612																																						ENST00000338761.4																			0													transmembrane protein 120A							69.0	75.0	73.0					7																	75621505		1916	4113	6029			83862					integral to membrane		g.chr7:75621505C>A	AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621505C>A						TMEM120A_ENST00000493111.2_RNA				Q9BXJ8	T120A_HUMAN			0	362	-								Q86TE9|Q8N6P1	RNA	SNP	ENST00000338761.4	37																																																																																						0.612	TMEM120A-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000344834.4	NM_031925		31	27	1	0	6.00712e-18	1	6.62549e-18	31	27				
ALKBH4	54784	broad.mit.edu	37	7	102100195	102100195	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102100195C>T	ENST00000292566.3	-	2	216	c.177G>A	c.(175-177)gaG>gaA	p.E59E		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	59					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						AGTCAGACTCCTCTGTGCCCA	0.577																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(175-177)gaG>gaA		alkB, alkylation repair homolog 4 (E. coli)							81.0	76.0	78.0					7																	102100195		2203	4300	6503	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102100195C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.177G>A	7.37:g.102100195C>T							p.E59E	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			2	216	-			59					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.177G>A	CCDS5723.1																																																																																				0.577	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		13	30	0	0	0	1	0	13	30				
RPGRIP1	57096	broad.mit.edu	37	14	21779073	21779073	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21779073G>A	ENST00000400017.2	+	7	930				RPGRIP1_ENST00000206660.6_Splice_Site_p.A303T|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1						eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATTCTTCTAGCATGTGTGAG	0.368																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.e7-1		retinitis pigmentosa GTPase regulator interacting protein 1							31.0	30.0	30.0					14																	21779073		876	1990	2866	SO:0001627	intron_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21779073G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.930+307G>A	14.37:g.21779073G>A						RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Intron	p.A303_splice			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	7	907	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	303					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Splice_Site	SNP	ENST00000400017.2	37	c.906_splice	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584940	0.28268	.	.	ENSG00000092200	ENST00000206660	T	0.75367	-0.93	3.85	-1.16	0.09678	.	1.000120	0.08080	N	1.000000	T	0.58850	0.2151	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47058	-0.9146	6	.	.	.	.	3.9376	0.09313	0.433:0.1831:0.3839:0.0	.	.	.	.	T	303	ENSP00000206660:A303T	.	A	+	1	0	RPGRIP1	20848913	0.004000	0.15560	0.001000	0.08648	0.166000	0.22503	-0.053000	0.11846	-0.213000	0.10094	0.467000	0.42956	GCA		0.368	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		5	7	0	0	0	1	0	5	7				
MTBP	27085	broad.mit.edu	37	8	121518996	121518996	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121518996G>A	ENST00000305949.1	+	16	1823	c.1778G>A	c.(1777-1779)gGt>gAt	p.G593D		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	593	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CACAAAGAGGGTCCTCGGGAC	0.403																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1777-1779)gGt>gAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							84.0	79.0	81.0					8																	121518996		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121518996G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1778G>A	8.37:g.121518996G>A	ENSP00000303398:p.Gly593Asp						p.G593D	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		16	1823	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		593			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1778G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863429	0.71949	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.44	3.61	0.41365	.	0.278061	0.36665	N	0.002477	T	0.59838	0.2223	M	0.66939	2.045	0.43149	D	0.994911	P	0.42973	0.796	B	0.43251	0.413	T	0.64037	-0.6501	9	0.59425	D	0.04	-5.8481	14.5671	0.68185	0.0:0.0:0.7332:0.2668	.	593	Q96DY7	MTBP_HUMAN	D	593	.	ENSP00000303398:G593D	G	+	2	0	MTBP	121588177	1.000000	0.71417	0.989000	0.46669	0.855000	0.48748	4.037000	0.57311	0.641000	0.30601	-0.261000	0.10672	GGT		0.403	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		9	38	0	0	0	1	0	9	38				
MFAP1	4236	broad.mit.edu	37	15	44107161	44107161	+	Missense_Mutation	SNP	C	C	A	rs114234191		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44107161C>A	ENST00000267812.3	-	3	643	c.411G>T	c.(409-411)gaG>gaT	p.E137D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	137	Poly-Glu.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CAATTTCCTCCTCCTCTTCTT	0.408																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(409-411)gaG>gaT		microfibrillar-associated protein 1							311.0	301.0	305.0					15																	44107161		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44107161C>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.411G>T	15.37:g.44107161C>A	ENSP00000267812:p.Glu137Asp						p.E137D	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	643	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	137			Poly-Glu.		Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.411G>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	1.686	-0.505365	0.04261	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	-1.63	0.08345	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.33339	1.005	0.53688	D	0.999979	B	0.09022	0.002	B	0.08055	0.003	T	0.17167	-1.0378	9	0.13853	T	0.58	-20.6005	11.1799	0.48623	0.0:0.5693:0.0:0.4307	.	137	P55081	MFAP1_HUMAN	D	137	.	ENSP00000267812:E137D	E	-	3	2	MFAP1	41894453	0.330000	0.24705	0.978000	0.43139	0.254000	0.26022	-0.284000	0.08422	-0.233000	0.09797	-1.743000	0.00684	GAG		0.408	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		31	72	1	0	9.65021e-13	1	1.04556e-12	31	72				
ZSCAN5B	342933	broad.mit.edu	37	19	56701610	56701610	+	Silent	SNP	G	G	A	rs537974249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56701610G>A	ENST00000586855.2	-	5	1387	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	ZSCAN5B_ENST00000358992.3_Silent_p.D358D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	358					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATTGCACACGTCACATGCAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19498	0.001		0.0	False		,,,				2504	0.0					ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1072-1074)gaC>gaT		zinc finger and SCAN domain containing 5B							75.0	78.0	77.0					19																	56701610		2201	4295	6496	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701610G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1074C>T	19.37:g.56701610G>A						ZSCAN5B_ENST00000358992.3_Silent_p.D358D	p.D358D			A6NJL1	ZSA5B_HUMAN			5	1387	-			358						Silent	SNP	ENST00000586855.2	37	c.1074C>T	CCDS46203.1																																																																																				0.532	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	35	0	0	0	1	0	24	35				
SLCO1B3	28234	broad.mit.edu	37	12	21030809	21030809	+	Silent	SNP	C	C	T	rs145036538		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21030809C>T	ENST00000381545.3	+	10	1293	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	LST3_ENST00000540229.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	358					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CTTTTACTTACGTCTTTAAAT	0.338													.|||	1	0.000199681	0.0	0.0	5008	,	,		12809	0.0		0.0	False		,,,				2504	0.001					ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1072-1074)taC>taT		solute carrier organic anion transporter family, member 1B3		C		0,4406		0,0,2203	136.0	135.0	135.0		1074	-4.0	0.0	12	dbSNP_134	135	1,8597		0,1,4298	no	coding-synonymous	SLCO1B3	NM_019844.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		358/703	21030809	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21030809C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1074C>T	12.37:g.21030809C>T						LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|SLCO1B7_ENST00000554957.1_Intron	p.Y358Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			10	1293	+	Esophageal squamous(101;0.149)		358					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1074C>T	CCDS8684.1																																																																																				0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		34	48	0	0	0	1	0	34	48				
KCNH6	81033	broad.mit.edu	37	17	61619769	61619769	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61619769C>T	ENST00000583023.1	+	9	2133	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	KCNH6_ENST00000581784.1_Silent_p.L655L|KCNH6_ENST00000314672.5_Silent_p.L708L|KCNH6_ENST00000456941.2_Silent_p.L655L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	708					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGGAGTAAGCTGGAGGTCAC	0.642																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2122-2124)Ctg>Ttg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						92.0	79.0	83.0					17																	61619769		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61619769C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2122C>T	17.37:g.61619769C>T						KCNH6_ENST00000314672.5_Silent_p.L708L|KCNH6_ENST00000581784.1_Silent_p.L655L|KCNH6_ENST00000456941.2_Silent_p.L655L	p.L708L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			9	2133	+			708					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.2122C>T	CCDS11638.1																																																																																				0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		16	26	0	0	0	1	0	16	26				
CPSF6	11052	broad.mit.edu	37	12	69653276	69653276	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69653276C>A	ENST00000435070.2	+	7	1378	c.1268C>A	c.(1267-1269)gCa>gAa	p.A423E	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.A460E|CPSF6_ENST00000456847.3_Missense_Mutation_p.A350E	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	423					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAAATAGGGCAATCTCAAGC	0.348																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1267-1269)gCa>gAa		cleavage and polyadenylation specific factor 6, 68kDa							187.0	183.0	184.0					12																	69653276		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69653276C>A	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1268C>A	12.37:g.69653276C>A	ENSP00000391774:p.Ala423Glu					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.A460E|CPSF6_ENST00000456847.3_Missense_Mutation_p.A350E	p.A423E	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		7	1378	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		423					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1268C>A	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355479	0.82243	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.87650	-2.28;-2.28;-2.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	L	0.55990	1.75	0.80722	D	1	D;D;D	0.71674	0.993;0.993;0.998	P;P;D	0.75484	0.718;0.882;0.986	D	0.90634	0.4569	9	.	.	.	-11.475	19.94	0.97155	0.0:1.0:0.0:0.0	.	171;460;423	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	E	423;350;460	ENSP00000391774:A423E;ENSP00000391437:A350E;ENSP00000266679:A460E	.	A	+	2	0	CPSF6	67939543	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	GCA		0.348	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		22	42	1	0	3.62473e-10	1	3.8659e-10	22	42				
DGCR8	54487	broad.mit.edu	37	22	20079068	20079068	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20079068C>T	ENST00000351989.3	+	6	1846	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R473W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R473W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	473	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGAAATGAAGCGGAAGCAGGC	0.483																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1417-1419)Cgg>Tgg		DGCR8 microprocessor complex subunit							159.0	177.0	171.0					22																	20079068		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079068C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1417C>T	22.37:g.20079068C>T	ENSP00000263209:p.Arg473Trp					DGCR8_ENST00000383024.2_Missense_Mutation_p.R473W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R473W	p.R473W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1846	+	Colorectal(54;0.0993)		473			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1417C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644881	0.67358	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35236	1.37;1.32;1.32	4.62	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.895;0.857	T	0.36672	-0.9738	10	0.72032	D	0.01	-3.6362	8.3837	0.32488	0.1537:0.7635:0.0:0.0829	.	473;473	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	W	473	ENSP00000263209:R473W;ENSP00000372488:R473W;ENSP00000384726:R473W	ENSP00000263209:R473W	R	+	1	2	DGCR8	18459068	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	2.271000	0.43364	1.158000	0.42547	0.591000	0.81541	CGG		0.483	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			30	126	0	0	0	1	0	30	126				
ADAMTS16	170690	broad.mit.edu	37	5	5319178	5319178	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5319178C>G	ENST00000274181.7	+	23	3740	c.3602C>G	c.(3601-3603)cCc>cGc	p.P1201R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1201	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TACCTGGTACCCCAGCACGGG	0.537																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3601-3603)cCc>cGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							48.0	50.0	49.0					5																	5319178		2004	4174	6178	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5319178C>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3602C>G	5.37:g.5319178C>G	ENSP00000274181:p.Pro1201Arg						p.P1201R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			23	3740	+			1201			PLAC.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3602C>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826436	0.71143	.	.	ENSG00000145536	ENST00000274181	T	0.39406	1.08	4.54	4.54	0.55810	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55036	-0.8203	10	0.10636	T	0.68	.	15.1459	0.72650	0.0:1.0:0.0:0.0	.	1201	Q8TE57	ATS16_HUMAN	R	1201	ENSP00000274181:P1201R	ENSP00000274181:P1201R	P	+	2	0	ADAMTS16	5372178	1.000000	0.71417	0.942000	0.38095	0.676000	0.39594	7.145000	0.77365	2.233000	0.73108	0.467000	0.42956	CCC		0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		6	9	0	0	0	1	0	6	9				
MYBBP1A	10514	broad.mit.edu	37	17	4451274	4451274	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4451274G>A	ENST00000254718.4	-	13	2109	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	MYBBP1A_ENST00000381556.2_Silent_p.L601L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	601				L -> F (in Ref. 1; AAF33021). {ECO:0000305}.	cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGATGCCCACGAGGAGCAGAA	0.647																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1801-1803)ctC>ctT		MYB binding protein (P160) 1a							17.0	18.0	18.0					17																	4451274		2154	4217	6371	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4451274G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1803C>T	17.37:g.4451274G>A						MYBBP1A_ENST00000381556.2_Silent_p.L601L	p.L601L			Q9BQG0	MBB1A_HUMAN			13	2109	-			601	L -> F (in Ref. 1; AAF33021).				Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.1803C>T	CCDS11046.1																																																																																				0.647	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		3	4	0	0	0	1	0	3	4				
PRICKLE2	166336	broad.mit.edu	37	3	64085459	64085459	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64085459G>A	ENST00000295902.6	-	8	2388	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S657S|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	601					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGACTCTGCGCTCCGGAACT	0.552																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1801-1803)agC>agT		prickle homolog 2 (Drosophila)							132.0	129.0	130.0					3																	64085459		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085459G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1803C>T	3.37:g.64085459G>A						RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S657S|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	p.S601S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2388	-		Lung NSC(201;0.136)	601					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1803C>T	CCDS2902.1																																																																																				0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		28	61	0	0	0	1	0	28	61				
C3	718	broad.mit.edu	37	19	6707910	6707910	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6707910C>T	ENST00000245907.6	-	15	1968	c.1876G>A	c.(1876-1878)Ggc>Agc	p.G626S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	626					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGGGTGCAGCCGATGTCTGCC	0.662																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1876-1878)Ggc>Agc		complement component 3							57.0	52.0	54.0					19																	6707910		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707910C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1876G>A	19.37:g.6707910C>T	ENSP00000245907:p.Gly626Ser						p.G626S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	15	1968	-			626					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1876G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262570	0.59431	.	.	ENSG00000125730	ENST00000245907	T	0.41400	1.0	4.83	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.90595	3.13	0.43076	D	0.994723	P	0.48407	0.91	P	0.46510	0.519	T	0.64179	-0.6468	10	0.46703	T	0.11	.	11.9609	0.53007	0.0:0.9131:0.0:0.0869	.	626	P01024	CO3_HUMAN	S	626	ENSP00000245907:G626S	ENSP00000245907:G626S	G	-	1	0	C3	6658910	1.000000	0.71417	0.958000	0.39756	0.420000	0.31355	5.143000	0.64826	1.043000	0.40175	-0.192000	0.12808	GGC		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		19	38	0	0	0	1	0	19	38				
PPP4R1	9989	broad.mit.edu	37	18	9588808	9588808	+	Silent	SNP	G	G	A	rs369495071		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9588808G>A	ENST00000400556.3	-	5	412	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.I96I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	113					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AAAACAGTGCGATGTGAGGCA	0.413																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(337-339)atC>atT		protein phosphatase 4, regulatory subunit 1		G	,	1,3807		0,1,1903	116.0	108.0	110.0		339,288	-3.9	0.5	18		110	2,8252		0,2,4125	no	coding-synonymous,coding-synonymous	PPP4R1	NM_001042388.1,NM_005134.2	,	0,3,6028	AA,AG,GG		0.0242,0.0263,0.0249	,	113/951,96/934	9588808	3,12059	1904	4127	6031	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9588808G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.339C>T	18.37:g.9588808G>A						RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Silent_p.I96I	p.I113I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			5	412	-			113					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.339C>T	CCDS42412.1																																																																																				0.413	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		35	38	0	0	0	1	0	35	38				
AP5Z1	9907	broad.mit.edu	37	7	4825902	4825902	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4825902C>T	ENST00000348624.4	+	10	1248	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S385L|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	385					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCAGTGGACTCGGAAGCCGTC	0.627																																						ENST00000348624.4																			0											c.(1153-1155)tCg>tTg		adaptor-related protein complex 5, zeta 1 subunit							36.0	43.0	41.0					7																	4825902		1978	4137	6115	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825902C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1154C>T	7.37:g.4825902C>T	ENSP00000297562:p.Ser385Leu					AP5Z1_ENST00000401897.1_Missense_Mutation_p.S385L	p.S385L	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			10	1248	+			385					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.1154C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178993	0.57692	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.40225	1.04;1.04	5.29	5.29	0.74685	.	0.384476	0.27595	N	0.018664	T	0.41050	0.1142	M	0.67953	2.075	0.33560	D	0.597283	P	0.34743	0.466	B	0.24701	0.055	T	0.59674	-0.7410	10	0.51188	T	0.08	.	16.0743	0.80958	0.0:1.0:0.0:0.0	.	385	O43299	K0415_HUMAN	L	385	ENSP00000297562:S385L;ENSP00000384980:S385L	ENSP00000297562:S385L	S	+	2	0	KIAA0415	4792428	0.975000	0.34042	0.028000	0.17463	0.961000	0.63080	4.105000	0.57797	2.478000	0.83669	0.561000	0.74099	TCG		0.627	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			15	16	0	0	0	1	0	15	16				
THSD7A	221981	broad.mit.edu	37	7	11415435	11415435	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11415435C>A	ENST00000423059.4	-	28	5211	c.4960G>T	c.(4960-4962)Gat>Tat	p.D1654Y	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1654					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGTCGGCATCTCCATCATAG	0.403										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4960-4962)Gat>Tat		thrombospondin, type I, domain containing 7A							169.0	170.0	170.0					7																	11415435		1837	4095	5932	SO:0001583	missense	221981					integral to membrane		g.chr7:11415435C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4960G>T	7.37:g.11415435C>A	ENSP00000406482:p.Asp1654Tyr	HNSCC(18;0.044)				AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.D1654Y	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	28	5211	-			1654						Missense_Mutation	SNP	ENST00000423059.4	37	c.4960G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114807	0.77210	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71698	-0.59	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84661	0.0706	10	0.87932	D	0	.	20.055	0.97649	0.0:1.0:0.0:0.0	.	1654;1654	Q9UPZ6;C9JL67	THS7A_HUMAN;.	Y	1654	ENSP00000406482:D1654Y	ENSP00000262042:D1654Y	D	-	1	0	THSD7A	11381960	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.487000	0.81328	2.743000	0.94032	0.455000	0.32223	GAT		0.403	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		27	43	1	0	1.13719e-10	1	1.21767e-10	27	43				
CREM	1390	broad.mit.edu	37	10	35495960	35495960	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:35495960C>T	ENST00000395895.2	+	9	1081	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	CREM_ENST00000348787.2_Silent_p.L167L|CREM_ENST00000361599.4_Silent_p.L216L|CREM_ENST00000463960.1_Silent_p.L140L|CREM_ENST00000439705.1_Silent_p.L232L|CREM_ENST00000374734.3_Silent_p.L183L|CREM_ENST00000333809.8_Silent_p.L295L|CREM_ENST00000488328.1_Silent_p.L55L|CREM_ENST00000356917.5_Silent_p.L55L|CREM_ENST00000337656.4_Silent_p.L246L|CREM_ENST00000374721.3_Silent_p.L216L|CREM_ENST00000484283.1_Silent_p.L165L|CREM_ENST00000354759.3_Silent_p.L195L|CREM_ENST00000463314.1_Silent_p.L84L|CREM_ENST00000374728.3_Silent_p.L167L|CREM_ENST00000488741.1_Silent_p.L49L|CREM_ENST00000487763.1_Silent_p.L67L|CREM_ENST00000479070.1_Silent_p.L258L|CREM_ENST00000395887.3_Silent_p.L228L|CREM_ENST00000345491.3_Silent_p.L246L|CREM_ENST00000474931.1_Silent_p.L59L|CREM_ENST00000429130.3_Silent_p.L291L|CREM_ENST00000342105.3_Silent_p.L191L|CREM_ENST00000474362.1_Silent_p.L42L|CREM_ENST00000473940.1_Silent_p.L67L|CREM_ENST00000344351.5_Silent_p.L42L|CREM_ENST00000468236.1_Silent_p.L71L|CREM_ENST00000460270.1_Silent_p.L42L|CREM_ENST00000490511.1_Silent_p.L59L			Q03060	CREM_HUMAN	cAMP responsive element modulator	307	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CAAACGAGAGCTGAGGCTAAT	0.522																																						ENST00000333809.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(883-885)Ctg>Ttg		cAMP responsive element modulator							83.0	80.0	81.0					10																	35495960		2203	4300	6503	SO:0001819	synonymous_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35495960C>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.919C>T	10.37:g.35495960C>T						CREM_ENST00000345491.3_Silent_p.L246L|CREM_ENST00000474362.1_Silent_p.L42L|CREM_ENST00000473940.1_Silent_p.L67L|CREM_ENST00000344351.5_Silent_p.L42L|CREM_ENST00000479070.1_Silent_p.L258L|CREM_ENST00000374728.3_Silent_p.L167L|CREM_ENST00000374734.3_Silent_p.L183L|CREM_ENST00000374721.3_Silent_p.L216L|CREM_ENST00000490511.1_Silent_p.L59L|CREM_ENST00000361599.4_Silent_p.L216L|CREM_ENST00000468236.1_Silent_p.L71L|CREM_ENST00000342105.3_Silent_p.L191L|CREM_ENST00000463314.1_Silent_p.L84L|CREM_ENST00000474931.1_Silent_p.L59L|CREM_ENST00000488741.1_Silent_p.L49L|CREM_ENST00000488328.1_Silent_p.L55L|CREM_ENST00000460270.1_Silent_p.L42L|CREM_ENST00000487763.1_Silent_p.L67L|CREM_ENST00000484283.1_Silent_p.L165L|CREM_ENST00000439705.1_Silent_p.L232L|CREM_ENST00000429130.3_Silent_p.L291L|CREM_ENST00000395887.3_Silent_p.L228L|CREM_ENST00000356917.5_Silent_p.L55L|CREM_ENST00000395895.2_Silent_p.L307L|CREM_ENST00000337656.4_Silent_p.L246L|CREM_ENST00000354759.3_Silent_p.L195L|CREM_ENST00000463960.1_Silent_p.L140L|CREM_ENST00000348787.2_Silent_p.L167L	p.L295L	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN			7	937	+			307					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	ENST00000395895.2	37	c.883C>T																																																																																					0.522	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		24	38	0	0	0	1	0	24	38				
TSSK1B	83942	broad.mit.edu	37	5	112770389	112770389	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112770389C>T	ENST00000390666.3	-	1	339	c.148G>A	c.(148-150)Gca>Aca	p.A50T	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T. {ECO:0000269|PubMed:17344846}.		multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A50T(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AAGAAGTCTGCGGGGGCCTTC	0.463																																						ENST00000390666.3																			1	Substitution - Missense(1)	p.A50T(1)	endometrium(1)	large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(148-150)Gca>Aca		testis-specific serine kinase 1B							49.0	55.0	53.0					5																	112770389		2151	4272	6423	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770389C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.148G>A	5.37:g.112770389C>T	ENSP00000375081:p.Ala50Thr					CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.A50T	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	339	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	50		A -> T.	Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.148G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	6.161	0.397878	0.11696	.	.	ENSG00000212122	ENST00000390666	T	0.65364	-0.15	2.67	-1.41	0.08941	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.978474	0.08254	N	0.974220	T	0.35248	0.0925	N	0.12831	0.26	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.21177	-1.0253	10	0.07813	T	0.8	.	5.9869	0.19440	0.0:0.5059:0.0:0.4941	.	50	Q9BXA7	TSSK1_HUMAN	T	50	ENSP00000375081:A50T	ENSP00000375081:A50T	A	-	1	0	TSSK1B	112798288	0.000000	0.05858	0.866000	0.34008	0.696000	0.40369	-0.262000	0.08682	-0.418000	0.07450	-0.471000	0.05019	GCA		0.463	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		10	25	0	0	0	1	0	10	25				
SH3TC1	54436	broad.mit.edu	37	4	8230217	8230217	+	Silent	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:8230217G>C	ENST00000245105.3	+	12	2863	c.2796G>C	c.(2794-2796)ctG>ctC	p.L932L	SH3TC1_ENST00000539824.1_Silent_p.L856L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGTGCGGCTGTTCTCGAGGC	0.701																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2566-2568)ctG>ctC		SH3 domain and tetratricopeptide repeats 1							23.0	27.0	26.0					4																	8230217		2200	4295	6495	SO:0001819	synonymous_variant	54436						binding	g.chr4:8230217G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2796G>C	4.37:g.8230217G>C						SH3TC1_ENST00000245105.3_Silent_p.L932L	p.L856L			Q8TE82	S3TC1_HUMAN			12	2942	+			932					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2568G>C	CCDS3399.1																																																																																				0.701	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		11	18	0	0	0	1	0	11	18				
AKIRIN2	55122	broad.mit.edu	37	6	88385621	88385621	+	Silent	SNP	C	C	T	rs369857489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88385621C>T	ENST00000257787.5	-	4	1082	c.558G>A	c.(556-558)acG>acA	p.T186T		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	186					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						TTTGATCATGCGTAAACTTCA	0.323																																						ENST00000257787.5																			0				large_intestine(4)	4						c.(556-558)acG>acA		akirin 2		C		0,4406		0,0,2203	86.0	82.0	83.0		558	-1.4	1.0	6		83	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	AKIRIN2	NM_018064.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		186/204	88385621	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55122				innate immune response|transcription, DNA-dependent	transcriptional repressor complex		g.chr6:88385621C>T	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.558G>A	6.37:g.88385621C>T							p.T186T	NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN			4	1082	-			186					Q9BQB1	Silent	SNP	ENST00000257787.5	37	c.558G>A	CCDS5013.1																																																																																				0.323	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064		14	71	0	0	0	1	0	14	71				
ADAMTS13	11093	broad.mit.edu	37	9	136298780	136298780	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136298780G>A	ENST00000371929.3	+	11	1708	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A422T|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A391T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A94T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	422	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGGGGGCGTGCATGTGTTGG	0.622																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1264-1266)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 13							103.0	84.0	91.0					9																	136298780		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136298780G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1264G>A	9.37:g.136298780G>A	ENSP00000360997:p.Ala422Thr					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A391T|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A94T|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A422T	p.A422T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	11	1708	+			422			TSP type-1 1.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1264G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355013	0.24512	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.53423	0.62;0.62;0.62;3.89	4.88	3.99	0.46301	.	.	.	.	.	T	0.20981	0.0505	N	0.01109	-1.01	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.16571	-1.0398	9	0.30854	T	0.27	.	12.6114	0.56554	0.0809:0.0:0.9191:0.0	.	422;391;422	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	T	422;422;391;94	ENSP00000360997:A422T;ENSP00000347927:A422T;ENSP00000348997:A391T;ENSP00000444504:A94T	ENSP00000347927:A422T	A	+	1	0	ADAMTS13	135288601	0.077000	0.21312	0.027000	0.17364	0.618000	0.37518	2.024000	0.41049	1.180000	0.42898	0.462000	0.41574	GCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		25	31	0	0	0	1	0	25	31				
MUC17	140453	broad.mit.edu	37	7	100678675	100678675	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100678675C>T	ENST00000306151.4	+	3	4042	c.3978C>T	c.(3976-3978)agC>agT	p.S1326S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1326	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATGCCAACCT	0.453																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3976-3978)agC>agT		mucin 17, cell surface associated							246.0	235.0	239.0					7																	100678675		2203	4298	6501	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678675C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3978C>T	7.37:g.100678675C>T							p.S1326S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4042	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1326			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3978C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		71	117	0	0	0	1	0	71	117				
PTK2	5747	broad.mit.edu	37	8	141799585	141799585	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141799585C>T	ENST00000522684.1	-	14	1394	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PTK2_ENST00000395218.2_Missense_Mutation_p.V389I|PTK2_ENST00000538769.1_Missense_Mutation_p.V50I|PTK2_ENST00000517887.1_Missense_Mutation_p.V433I|PTK2_ENST00000521059.1_Missense_Mutation_p.V389I|PTK2_ENST00000519419.1_Missense_Mutation_p.V433I|PTK2_ENST00000535192.1_Missense_Mutation_p.V389I|PTK2_ENST00000340930.3_Missense_Mutation_p.V389I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	389					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GACACAGAGACGGCGTGTGTC	0.507																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1165-1167)Gtc>Atc		protein tyrosine kinase 2							258.0	239.0	245.0					8																	141799585		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799585C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1165G>A	8.37:g.141799585C>T	ENSP00000429911:p.Val389Ile					PTK2_ENST00000340930.3_Missense_Mutation_p.V389I|PTK2_ENST00000521059.1_Missense_Mutation_p.V389I|PTK2_ENST00000538769.1_Missense_Mutation_p.V50I|PTK2_ENST00000517887.1_Missense_Mutation_p.V433I|PTK2_ENST00000519419.1_Missense_Mutation_p.V433I|PTK2_ENST00000535192.1_Missense_Mutation_p.V389I|PTK2_ENST00000395218.2_Missense_Mutation_p.V389I	p.V389I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1394	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	389					B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1165G>A	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.15|10.15	1.270647|1.270647	0.23221|0.23221	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	.|T;T;T;T;T;T;T;T;T;T	.|0.75477	.|-0.93;-0.92;-0.94;-0.93;-0.92;-0.91;-0.92;-0.9;-0.94;-0.94	5.87|5.87	5.0|5.0	0.66597|0.66597	.|.	.|0.162695	.|0.56097	.|D	.|0.000034	T|T	0.53465|0.53465	0.1798|0.1798	N|N	0.08118|0.08118	0|0	0.28635|0.28635	N|N	0.907456|0.907456	.|B;B;B;B;B;B;B;B	.|0.15141	.|0.012;0.006;0.003;0.009;0.002;0.005;0.006;0.002	.|B;B;B;B;B;B;B;B	.|0.10450	.|0.002;0.005;0.001;0.001;0.001;0.001;0.001;0.001	T|T	0.41088|0.41088	-0.9528|-0.9528	5|10	.|0.17832	.|T	.|0.49	.|.	12.9243|12.9243	0.58252|0.58252	0.1625:0.8375:0.0:0.0|0.1625:0.8375:0.0:0.0	.|.	.|389;50;296;389;411;389;300;50	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.|.;.;.;FAK1_HUMAN;.;.;.;.	H|I	399|389;389;433;389;299;389;296;50;54;389;50;433;53;207	.|ENSP00000429911:V389I;ENSP00000438009:V389I;ENSP00000429082:V433I;ENSP00000429474:V389I;ENSP00000378644:V389I;ENSP00000428492:V54I;ENSP00000341189:V389I;ENSP00000445742:V50I;ENSP00000429129:V433I;ENSP00000430603:V53I	.|ENSP00000341189:V389I	R|V	-|-	2|1	0|0	PTK2|PTK2	141868767|141868767	0.982000|0.982000	0.34865|0.34865	0.915000|0.915000	0.36163|0.36163	0.947000|0.947000	0.59692|0.59692	2.742000|2.742000	0.47434|0.47434	1.643000|1.643000	0.50594|0.50594	-0.121000|-0.121000	0.15023|0.15023	CGT|GTC		0.507	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		6	167	0	0	0	1	0	6	167				
MAP2	4133	broad.mit.edu	37	2	210559071	210559071	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210559071C>A	ENST00000360351.4	+	7	2683	c.2177C>A	c.(2176-2178)cCt>cAt	p.P726H	MAP2_ENST00000447185.1_Missense_Mutation_p.P722H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	726					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATCTTTCTCCTCTGGCTTCC	0.463																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2176-2178)cCt>cAt		microtubule-associated protein 2	Estramustine(DB01196)						168.0	163.0	165.0					2																	210559071		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559071C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2177C>A	2.37:g.210559071C>A	ENSP00000353508:p.Pro726His					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P722H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.P726H	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2683	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	726					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2177C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126597	0.77549	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.29397	1.57;1.57	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.56934	0.2019	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55244	-0.8171	10	0.87932	D	0	-15.6531	20.4084	0.99013	0.0:1.0:0.0:0.0	.	722;726	P11137-3;P11137	.;MAP2_HUMAN	H	726;722	ENSP00000353508:P726H;ENSP00000392164:P722H	ENSP00000353508:P726H	P	+	2	0	MAP2	210267316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.189000	0.77747	2.833000	0.97629	0.650000	0.86243	CCT		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	128	1	0	0.014758	1	0.0148771	5	128				
ZNF91	7644	broad.mit.edu	37	19	23542635	23542635	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:23542635G>T	ENST00000300619.7	-	4	3351	c.3146C>A	c.(3145-3147)cCt>cAt	p.P1049H	ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017H|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1049					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.363																																						ENST00000300619.7																			0											c.(3145-3147)cCt>cAt		zinc finger protein 91							65.0	70.0	68.0					19																	23542635		2189	4296	6485	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542635G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3146C>A	19.37:g.23542635G>T	ENSP00000300619:p.Pro1049His					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017H	p.P1049H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3351	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1049					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3146C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252099	0.22880	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17528	2.27;2.27	1.31	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35624	0.0938	M	0.76574	2.34	0.18873	N	0.999982	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.07366	-1.0776	9	0.66056	D	0.02	.	4.9555	0.14036	0.2125:0.0:0.7875:0.0	.	1017;1049	Q05481-2;Q05481	.;ZNF91_HUMAN	H	1049;1017	ENSP00000300619:P1049H;ENSP00000380272:P1017H	ENSP00000300619:P1049H	P	-	2	0	ZNF91	23334475	1.000000	0.71417	0.079000	0.20413	0.615000	0.37417	4.896000	0.63222	0.676000	0.31285	0.196000	0.17591	CCT		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		25	47	1	0	1.42536e-11	1	1.5349e-11	25	47				
PKDREJ	10343	broad.mit.edu	37	22	46657945	46657945	+	Silent	SNP	G	G	A	rs377483844		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46657945G>A	ENST00000253255.5	-	1	1274	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	425	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACACGTGGTCGCCTTTAAGTG	0.532																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1273-1275)ggC>ggT		polycystin (PKD) family receptor for egg jelly		G		1,4405	2.1+/-5.4	0,1,2202	97.0	98.0	97.0		1275	-10.3	0.0	22		97	0,8600		0,0,4300	no	coding-synonymous	PKDREJ	NM_006071.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		425/2254	46657945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657945G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1275C>T	22.37:g.46657945G>A							p.G425G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1274	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	425			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1275C>T	CCDS14073.1																																																																																				0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		15	64	0	0	0	1	0	15	64				
ABCA4	24	broad.mit.edu	37	1	94586597	94586597	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:94586597C>T	ENST00000370225.3	-	1	91	c.5G>A	c.(4-6)gGc>gAc	p.G2D	ABCA4_ENST00000535735.1_Missense_Mutation_p.G2D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCACGAAGCCCATGCTAAT	0.512																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4-6)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 4							120.0	112.0	115.0					1																	94586597		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94586597C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5G>A	1.37:g.94586597C>T	ENSP00000359245:p.Gly2Asp					ABCA4_ENST00000535735.1_Missense_Mutation_p.G2D	p.G2D	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	1	91	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467785	0.63625	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91631	-2.88;-2.88	4.93	4.93	0.64822	.	0.809480	0.11816	N	0.526700	D	0.94095	0.8107	M	0.70275	2.135	0.35673	D	0.813461	D;P	0.58620	0.983;0.875	P;B	0.58210	0.835;0.307	D	0.93615	0.6942	10	0.62326	D	0.03	.	17.0646	0.86556	0.0:1.0:0.0:0.0	.	2;2	F5H6E5;P78363	.;ABCA4_HUMAN	D	2	ENSP00000359245:G2D;ENSP00000437682:G2D	ENSP00000359245:G2D	G	-	2	0	ABCA4	94359185	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	2.676000	0.46883	2.566000	0.86566	0.561000	0.74099	GGC		0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	29	0	0	0	1	0	19	29				
ANKRD12	23253	broad.mit.edu	37	18	9255853	9255853	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9255853G>A	ENST00000262126.4	+	9	2828	c.2588G>A	c.(2587-2589)tGt>tAt	p.C863Y	ANKRD12_ENST00000383440.2_Missense_Mutation_p.C840Y|ANKRD12_ENST00000400020.3_Missense_Mutation_p.C840Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	863						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAGTGAATGTGTTGATAAA	0.303																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(2518-2520)tGt>tAt		ankyrin repeat domain 12							32.0	33.0	33.0					18																	9255853		2197	4292	6489	SO:0001583	missense	23253					nucleus		g.chr18:9255853G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2588G>A	18.37:g.9255853G>A	ENSP00000262126:p.Cys863Tyr					ANKRD12_ENST00000400020.3_Missense_Mutation_p.C840Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.C863Y	p.C840Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	2776	+			863					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.2519G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	1.750	-0.489372	0.04352	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.63913	-0.06;-0.07	5.55	4.67	0.58626	.	0.283763	0.41500	D	0.000876	T	0.48642	0.1511	L	0.57536	1.79	0.09310	N	1	P;P	0.44195	0.786;0.828	B;B	0.37888	0.26;0.259	T	0.46119	-0.9214	10	0.06099	T	0.92	-17.638	8.1676	0.31237	0.1116:0.153:0.7354:0.0	.	840;863	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Y	840;863	ENSP00000372932:C840Y;ENSP00000262126:C863Y	ENSP00000262126:C863Y	C	+	2	0	ANKRD12	9245853	0.838000	0.29461	0.035000	0.18076	0.207000	0.24258	1.201000	0.32259	1.315000	0.45114	0.557000	0.71058	TGT		0.303	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		11	18	0	0	0	1	0	11	18				
NOTCH1	4851	broad.mit.edu	37	9	139400023	139400023	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139400023G>A	ENST00000277541.6	-	25	4400	c.4325C>T	c.(4324-4326)cCg>cTg	p.P1442L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1442					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCAGCGGCGGGGGGATGTC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4324-4326)cCg>cTg		notch 1							16.0	20.0	19.0					9																	139400023		2021	4148	6169	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400023G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4325C>T	9.37:g.139400023G>A	ENSP00000277541:p.Pro1442Leu	HNSCC(8;0.001)					p.P1442L	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4400	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1442					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4325C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948507	0.73787	.	.	ENSG00000148400	ENST00000277541	T	0.81330	-1.48	4.45	4.45	0.53987	Notch domain (1);	0.124150	0.56097	U	0.000039	T	0.71082	0.3298	N	0.08118	0	0.80722	D	1	D	0.63046	0.992	P	0.51016	0.656	T	0.70927	-0.4739	10	0.20519	T	0.43	.	16.0816	0.81007	0.0:0.0:1.0:0.0	.	1442	P46531	NOTC1_HUMAN	L	1442	ENSP00000277541:P1442L	ENSP00000277541:P1442L	P	-	2	0	NOTCH1	138519844	1.000000	0.71417	0.921000	0.36526	0.699000	0.40488	7.457000	0.80775	2.013000	0.59113	0.579000	0.79373	CCG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	18	0	0	0	1	0	7	18				
PYCR2	29920	broad.mit.edu	37	1	226109966	226109966	+	Missense_Mutation	SNP	C	C	T	rs375432992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226109966C>T	ENST00000343818.6	-	3	404	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.V86M	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	86					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CTGGCTTGCACGTCGGCCCCA	0.582																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(256-258)Gtg>Atg		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	113.0	82.0	93.0		256	3.9	0.2	1		93	0,8600		0,0,4300	no	missense	PYCR2	NM_013328.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	86/321	226109966	1,13005	2203	4300	6503	SO:0001583	missense	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109966C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.256G>A	1.37:g.226109966C>T	ENSP00000342502:p.Val86Met					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.V86M|PYCR2_ENST00000478402.1_5'UTR	p.V86M	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			3	404	-	Breast(184;0.197)		86					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.256G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	14.64	2.595042	0.46318	2.27E-4	0.0	ENSG00000255835;ENSG00000143811;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940;ENST00000316918	T;T	0.42513	0.97;0.97	4.79	3.87	0.44632	NAD(P)-binding domain (1);	0.051553	0.85682	D	0.000000	T	0.53302	0.1788	M	0.64630	1.985	0.39386	D	0.966333	D;D;D	0.69078	0.997;0.97;0.995	D;P;P	0.65573	0.936;0.767;0.868	T	0.54846	-0.8232	10	0.51188	T	0.08	-18.4623	6.5243	0.22293	0.0:0.8114:0.0:0.1886	.	86;86;85	E7EUD8;Q96C36;E7EUS9	.;P5CR2_HUMAN;.	M	86;86;85;39	ENSP00000414068:V86M;ENSP00000342502:V86M	ENSP00000321499:V39M	V	-	1	0	PYCR2;RP4-559A3.7	224176589	1.000000	0.71417	0.173000	0.22940	0.167000	0.22549	3.977000	0.56874	2.629000	0.89072	0.655000	0.94253	GTG		0.582	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		7	18	0	0	0	1	0	7	18				
SUSD2	56241	broad.mit.edu	37	22	24580221	24580221	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24580221C>T	ENST00000358321.3	+	4	818	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	186					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CATGTCAAGTCGCTGCCCACG	0.602																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(556-558)tCg>tTg		sushi domain containing 2							124.0	90.0	102.0					22																	24580221		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580221C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.557C>T	22.37:g.24580221C>T	ENSP00000351075:p.Ser186Leu						p.S186L	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			4	818	+			186					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.557C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581177	0.28180	.	.	ENSG00000099994	ENST00000358321	T	0.19669	2.13	3.66	-3.27	0.05048	.	0.932846	0.09116	N	0.846340	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	10	0.39692	T	0.17	-4.1883	1.4446	0.02361	0.1456:0.3971:0.1441:0.3131	.	186	Q9UGT4	SUSD2_HUMAN	L	186	ENSP00000351075:S186L	ENSP00000351075:S186L	S	+	2	0	SUSD2	22910221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.446000	0.06837	-0.269000	0.09298	0.450000	0.29827	TCG		0.602	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		4	20	0	0	0	1	0	4	20				
KIAA0226L	80183	broad.mit.edu	37	13	46937275	46937275	+	Silent	SNP	G	G	A	rs552115280		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46937275G>A	ENST00000429979.1	-	6	1504	c.900C>T	c.(898-900)tgC>tgT	p.C300C	KIAA0226L_ENST00000378784.4_Silent_p.C233C|KIAA0226L_ENST00000378797.2_Silent_p.C300C|KIAA0226L_ENST00000322896.6_Silent_p.C143C|KIAA0226L_ENST00000409879.2_Silent_p.C143C|KIAA0226L_ENST00000389908.3_Silent_p.C300C|KIAA0226L_ENST00000534925.1_Silent_p.C165C|KIAA0226L_ENST00000378781.3_Silent_p.C300C|KIAA0226L_ENST00000378787.3_Silent_p.C300C	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	300										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CATCAACATCGCATTTGCAAA	0.423																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(898-900)tgC>tgT		KIAA0226-like							163.0	137.0	145.0					13																	46937275		2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46937275G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.900C>T	13.37:g.46937275G>A						KIAA0226L_ENST00000389908.3_Silent_p.C300C|KIAA0226L_ENST00000378797.2_Silent_p.C300C|KIAA0226L_ENST00000378781.3_Silent_p.C300C|KIAA0226L_ENST00000409879.2_Silent_p.C143C|KIAA0226L_ENST00000322896.6_Silent_p.C143C|KIAA0226L_ENST00000378787.3_Silent_p.C300C|KIAA0226L_ENST00000534925.1_Silent_p.C165C|KIAA0226L_ENST00000378784.4_Silent_p.C233C	p.C300C	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			6	1504	-			300					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.900C>T	CCDS31970.2																																																																																				0.423	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		11	15	0	0	0	1	0	11	15				
ACTN1	87	broad.mit.edu	37	14	69341600	69341600	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69341600C>T	ENST00000193403.6	-	21	3038	c.2655G>A	c.(2653-2655)gcG>gcA	p.A885A	ACTN1_ENST00000376839.3_Silent_p.A815A|ACTN1_ENST00000394419.4_Silent_p.A907A|ACTN1_ENST00000438964.2_Silent_p.A880A|ACTN1_ENST00000538545.2_Silent_p.A923A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	885					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)			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)		CGCCGTACAGCGCCGTGGAGA	0.687																																						ENST00000193403.6																			0				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						c.(2653-2655)gcG>gcA		actinin, alpha 1							48.0	46.0	47.0					14																	69341600		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:69341600C>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.2655G>A	14.37:g.69341600C>T						ACTN1_ENST00000438964.2_Silent_p.A880A|ACTN1_ENST00000538545.2_Silent_p.A923A|ACTN1_ENST00000394419.4_Silent_p.A907A|ACTN1_ENST00000376839.3_Silent_p.A815A	p.A885A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	21	3038	-			885					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2655G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212743	0.22289	.	.	ENSG00000072110	ENST00000555075	.	.	.	5.0	-1.59	0.08453	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48736	-0.9009	4	.	.	.	.	8.2162	0.31514	0.0:0.5418:0.1517:0.3066	.	.	.	.	H	244	.	.	R	-	2	0	ACTN1	68411353	0.004000	0.15560	0.996000	0.52242	0.981000	0.71138	-1.300000	0.02751	-0.101000	0.12219	-0.961000	0.02630	CGC		0.687	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		13	23	0	0	0	1	0	13	23				
TTN	7273	broad.mit.edu	37	2	179486415	179486415	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179486415C>A	ENST00000591111.1	-	195	40437	c.40213G>T	c.(40213-40215)Gac>Tac	p.D13405Y	TTN_ENST00000342992.6_Missense_Mutation_p.D12478Y|TTN_ENST00000359218.5_Missense_Mutation_p.D6106Y|TTN_ENST00000460472.2_Missense_Mutation_p.D5981Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15046Y|TTN_ENST00000342175.6_Missense_Mutation_p.D6173Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13405	Ig-like 90.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATAGTGTCTGTTTCACTA	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45136-45138)Gac>Tac		titin							86.0	81.0	83.0					2																	179486415		1839	4089	5928	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486415C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40213G>T	2.37:g.179486415C>A	ENSP00000465570:p.Asp13405Tyr					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6173Y|TTN_ENST00000591111.1_Missense_Mutation_p.D13405Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D5981Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12478Y|TTN_ENST00000359218.5_Missense_Mutation_p.D6106Y|TTN-AS1_ENST00000585451.1_RNA	p.D15046Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	45360	-			13405			Fibronectin type-III 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45136G>T		.	.	.	.	.	.	.	.	.	.	C	15.09	2.731319	0.48939	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88584	0.6476	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.977;0.977;0.977;0.977	D	0.88585	0.3139	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5981;6106;6173;13405	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	12478;5981;6173;6106;5981	ENSP00000343764:D12478Y;ENSP00000434586:D5981Y;ENSP00000340554:D6173Y;ENSP00000352154:D6106Y	ENSP00000340554:D6173Y	D	-	1	0	TTN	179194660	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	16	1	0	0.00448238	1	0.00453641	9	16				
PLCH1	23007	broad.mit.edu	37	3	155232512	155232512	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155232512C>A	ENST00000340059.7	-	11	1595	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	PLCH1_ENST00000460012.1_Splice_Site_p.Q514H|PLCH1_ENST00000447496.2_Splice_Site_p.Q532H|PLCH1_ENST00000334686.6_Splice_Site_p.Q514H|PLCH1_ENST00000494598.1_Splice_Site_p.Q532H|PLCH1_ENST00000414191.1_Splice_Site_p.Q514H	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	532					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATCAGATACCTGCTTCAGGT	0.388																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.e12+1		phospholipase C, eta 1							79.0	72.0	74.0					3																	155232512		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232512C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1596+1G>T	3.37:g.155232512C>A						PLCH1_ENST00000494598.1_Splice_Site_p.Q532_splice|PLCH1_ENST00000447496.2_Splice_Site_p.Q532_splice|PLCH1_ENST00000414191.1_Splice_Site_p.Q514_splice|PLCH1_ENST00000340059.7_Splice_Site_p.Q532_splice|PLCH1_ENST00000334686.6_Splice_Site_p.Q514_splice	p.Q514_splice			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		12	1899	-			532					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.1542_splice	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742636	0.89573	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.32753	1.95;1.82;1.44;1.82;1.82;1.82	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.246723	0.43416	D	0.000568	T	0.55257	0.1909	M	0.65975	2.015	0.80722	D	1	D;D;P	0.69078	0.997;0.994;0.905	D;P;P	0.66716	0.946;0.885;0.6	T	0.48670	-0.9015	9	.	.	.	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	514;532;532	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	H	532;514;532;532;514;514	ENSP00000419100:Q532H;ENSP00000417502:Q514H;ENSP00000402759:Q532H;ENSP00000345988:Q532H;ENSP00000335469:Q514H;ENSP00000412977:Q514H	.	Q	-	3	2	PLCH1	156715206	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.291000	0.78721	2.735000	0.93741	0.655000	0.94253	CAG		0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Missense_Mutation	18	37	1	0	1.33834e-09	1	1.42249e-09	18	37				
IDE	3416	broad.mit.edu	37	10	94228698	94228698	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94228698G>T	ENST00000265986.6	-	19	2314	c.2258C>A	c.(2257-2259)gCt>gAt	p.A753D	IDE_ENST00000371581.5_Missense_Mutation_p.A198D|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	753					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TTTGGTATGAGCATGTTCAAT	0.398																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2257-2259)gCt>gAt		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						124.0	113.0	116.0					10																	94228698		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94228698G>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2258C>A	10.37:g.94228698G>T	ENSP00000265986:p.Ala753Asp					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A198D	p.A753D	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			19	2314	-			753					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2258C>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796299	0.70567	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.06933	3.24;3.24	5.6	5.6	0.85130	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.09379	0.0231	L	0.39147	1.195	0.80722	D	1	P;P	0.36183	0.517;0.542	B;B	0.35727	0.139;0.209	T	0.28427	-1.0044	10	0.11794	T	0.64	-11.1077	19.2269	0.93821	0.0:0.0:1.0:0.0	.	753;198	P14735;B3KSB8	IDE_HUMAN;.	D	753;198	ENSP00000265986:A753D;ENSP00000360637:A198D	ENSP00000265986:A753D	A	-	2	0	IDE	94218678	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.134000	0.94467	2.638000	0.89438	0.655000	0.94253	GCT		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		14	18	1	0	3.52763e-06	1	3.66169e-06	14	18				
RGS22	26166	broad.mit.edu	37	8	101020624	101020624	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101020624C>T	ENST00000360863.6	-	15	2534	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S	RGS22_ENST00000523287.1_Silent_p.S599S|RGS22_ENST00000523437.1_Silent_p.S768S|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	780					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAATTTGGTCCGATTTTACCA	0.403																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2338-2340)tcG>tcA		regulator of G-protein signaling 22							151.0	142.0	145.0					8																	101020624		1868	4103	5971	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101020624C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2340G>A	8.37:g.101020624C>T						RGS22_ENST00000523437.1_Silent_p.S768S|RGS22_ENST00000523287.1_Silent_p.S599S|RGS22_ENST00000519421.1_5'UTR	p.S780S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2534	-			780					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.2340G>A	CCDS43758.1																																																																																				0.403	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		24	61	0	0	0	1	0	24	61				
IQGAP3	128239	broad.mit.edu	37	1	156521862	156521862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156521862G>A	ENST00000361170.2	-	14	1484	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	492					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCTCCTGTCGCAATTTCAGC	0.552																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(1474-1476)Cga>Tga		IQ motif containing GTPase activating protein 3							99.0	79.0	86.0					1																	156521862		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521862G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1474C>T	1.37:g.156521862G>A	ENSP00000354451:p.Arg492*						p.R492*	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			14	1484	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		492					Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.1474C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	38	6.687178	0.97764	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.96	4.04	0.47022	.	0.278896	0.28977	N	0.013539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.0241	8.4952	0.33123	0.0847:0.0:0.7642:0.1511	.	.	.	.	X	492	.	ENSP00000354451:R492X	R	-	1	2	IQGAP3	154788486	0.972000	0.33761	0.678000	0.29963	0.728000	0.41692	2.516000	0.45520	2.302000	0.77476	0.462000	0.41574	CGA		0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		13	23	0	0	0	1	0	13	23				
HEMGN	55363	broad.mit.edu	37	9	100693372	100693372	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100693372G>A	ENST00000259456.3	-	4	448	c.305C>T	c.(304-306)gCa>gTa	p.A102V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	102					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTCTATAGGTGCCAGTGCTTT	0.443																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(304-306)gCa>gTa		hemogen							146.0	134.0	138.0					9																	100693372		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693372G>A	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.305C>T	9.37:g.100693372G>A	ENSP00000259456:p.Ala102Val						p.A102V	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN			4	448	-		Acute lymphoblastic leukemia(62;0.0559)	102					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.305C>T	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.701936	0.03255	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.73	-0.55	0.11825	.	0.956669	0.08664	N	0.911903	T	0.24005	0.0581	L	0.37630	1.12	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30592	-0.9973	9	0.02654	T	1	-1.9582	3.5737	0.07926	0.3853:0.0:0.4446:0.1701	.	102	Q9BXL5	HEMGN_HUMAN	V	102	.	ENSP00000259456:A102V	A	-	2	0	HEMGN	99733193	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.652000	0.05366	-0.161000	0.10983	0.591000	0.81541	GCA		0.443	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		25	34	0	0	0	1	0	25	34				
USP24	23358	broad.mit.edu	37	1	55604636	55604636	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55604636C>T	ENST00000294383.6	-	25	2797	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	USP24_ENST00000407756.1_Missense_Mutation_p.R773H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	933					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GATCACATAGCGCTCTGCCAG	0.368																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2797-2799)cGc>cAc		ubiquitin specific peptidase 24							74.0	71.0	72.0					1																	55604636		1859	4104	5963	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55604636C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2798G>A	1.37:g.55604636C>T	ENSP00000294383:p.Arg933His					USP24_ENST00000407756.1_Missense_Mutation_p.R773H	p.R933H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			25	2797	-			933					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2798G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728121	0.69074	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02323	4.34;4.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.43829	-0.9367	10	0.46703	T	0.11	.	20.0036	0.97427	0.0:1.0:0.0:0.0	.	773	B7WPF4	.	H	933;773	ENSP00000294383:R933H;ENSP00000385700:R773H	ENSP00000294383:R933H	R	-	2	0	USP24	55377224	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.383000	0.79741	2.790000	0.95986	0.655000	0.94253	CGC		0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	6	0	0	0	1	0	8	6				
CAAP1	79886	broad.mit.edu	37	9	26842623	26842623	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:26842623T>C	ENST00000333916.5	-	6	850	c.762A>G	c.(760-762)gtA>gtG	p.V254V	CAAP1_ENST00000535437.1_Silent_p.V109V|CAAP1_ENST00000520187.1_Missense_Mutation_p.Y109C	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	254					apoptotic process (GO:0006915)												TTATACTGAGTACATCACTAT	0.403																																						ENST00000520187.1																			0											c.(325-327)tAc>tGc		caspase activity and apoptosis inhibitor 1							155.0	155.0	155.0					9																	26842623		2203	4300	6503	SO:0001819	synonymous_variant	79886							g.chr9:26842623T>C	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.762A>G	9.37:g.26842623T>C						CAAP1_ENST00000535437.1_Silent_p.V109V|CAAP1_ENST00000333916.5_Silent_p.V254V	p.Y109C			Q9H8G2	CI082_HUMAN			2	413	-			0					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	c.326A>G	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376298	0.24857	.	.	ENSG00000120159	ENST00000520187	.	.	.	5.74	-1.27	0.09347	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50550	-0.8815	5	0.87932	D	0	-22.8607	0.7331	0.00960	0.3886:0.1316:0.2207:0.2591	.	.	.	.	C	109	.	ENSP00000427938:Y109C	Y	-	2	0	C9orf82	26832623	0.870000	0.30015	0.989000	0.46669	0.998000	0.95712	-0.192000	0.09587	-0.475000	0.06852	0.459000	0.35465	TAC		0.403	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		37	53	0	0	0	1	0	37	53				
KLHL10	317719	broad.mit.edu	37	17	40001505	40001505	+	Missense_Mutation	SNP	T	T	C	rs141860514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40001505T>C	ENST00000293303.4	+	3	965	c.812T>C	c.(811-813)aTg>aCg	p.M271T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	271					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GACCTCAACATGAATGGACCC	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		21578	0.0		0.001	False		,,,				2504	0.0					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(811-813)aTg>aCg		kelch-like family member 10							159.0	148.0	152.0					17																	40001505		2052	4195	6247	SO:0001583	missense	317719					cytoplasm		g.chr17:40001505T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.812T>C	17.37:g.40001505T>C	ENSP00000293303:p.Met271Thr						p.M271T	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	965	+		Breast(137;0.000162)	271					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.812T>C	CCDS42340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	7.951	0.744814	0.15710	.	.	ENSG00000161594	ENST00000293303	T	0.68903	-0.36	6.17	6.17	0.99709	.	0.220575	0.56097	D	0.000029	T	0.46964	0.1420	N	0.15975	0.35	0.36628	D	0.876159	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51124	-0.8745	9	.	.	.	.	10.7373	0.46133	0.0:0.0738:0.0:0.9262	.	265;271	B4DXV2;Q6JEL2	.;KLH10_HUMAN	T	271	ENSP00000293303:M271T	.	M	+	2	0	KLHL10	37255031	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	2.301000	0.43628	2.371000	0.80710	0.533000	0.62120	ATG		0.463	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		23	27	0	0	0	1	0	23	27				
KAT6A	7994	broad.mit.edu	37	8	41790016	41790016	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41790016C>T	ENST00000396930.3	-	18	6265	c.5722G>A	c.(5722-5724)Gcc>Acc	p.A1908T	KAT6A_ENST00000406337.1_Missense_Mutation_p.A1908T|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1908T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1908	Met-rich.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1908T(1)									ACATTATAGGCGGGAGTAGGC	0.517																																						ENST00000396930.3																			1	Substitution - Missense(1)	p.A1908T(1)	large_intestine(1)								c.(5722-5724)Gcc>Acc		K(lysine) acetyltransferase 6A							130.0	114.0	119.0					8																	41790016		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790016C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5722G>A	8.37:g.41790016C>T	ENSP00000380136:p.Ala1908Thr					KAT6A_ENST00000265713.2_Missense_Mutation_p.A1908T|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1908T	p.A1908T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6265	-			1908			Met-rich.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5722G>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	3.945	-0.013403	0.07727	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.64803	-0.12;-0.12;-0.12	5.93	1.74	0.24563	.	0.225165	0.39083	N	0.001477	T	0.45617	0.1351	L	0.32530	0.975	0.41402	D	0.987686	B	0.09022	0.002	B	0.04013	0.001	T	0.25882	-1.0119	10	0.38643	T	0.18	-9.0206	7.5103	0.27569	0.0:0.5391:0.2467:0.2142	.	1908	Q92794	KAT6A_HUMAN	T	1908	ENSP00000265713:A1908T;ENSP00000385888:A1908T;ENSP00000380136:A1908T	ENSP00000265713:A1908T	A	-	1	0	KAT6A	41909173	0.434000	0.25570	0.396000	0.26296	0.591000	0.36615	0.782000	0.26788	0.335000	0.23614	-0.710000	0.03640	GCC		0.517	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	29	0	0	0	1	0	20	29				
ARHGEF10L	55160	broad.mit.edu	37	1	17952504	17952504	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17952504G>A	ENST00000361221.3	+	14	1530	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Silent_p.K235K|ARHGEF10L_ENST00000375420.3_Silent_p.K215K|ARHGEF10L_ENST00000375415.1_Silent_p.K418K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Silent_p.K457K|ARHGEF10L_ENST00000452522.1_Silent_p.K418K	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	457	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGATGGTCAAGCCCATCCAGA	0.607																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1369-1371)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 10-like							140.0	108.0	119.0					1																	17952504		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17952504G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1371G>A	1.37:g.17952504G>A						ARHGEF10L_ENST00000375408.3_Silent_p.K235K|ARHGEF10L_ENST00000452522.1_Silent_p.K418K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.K215K|ARHGEF10L_ENST00000375415.1_Silent_p.K418K|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Silent_p.K457K	p.K457K	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	14	1530	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	457			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1371G>A	CCDS182.1																																																																																				0.607	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		15	34	0	0	0	1	0	15	34				
DLL1	28514	broad.mit.edu	37	6	170592397	170592397	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170592397G>A	ENST00000366756.3	-	9	2303	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	657					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTTGCTGTGCGCGTCCCTGAC	0.667																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1969-1971)gCg>gTg		delta-like 1 (Drosophila)							81.0	70.0	74.0					6																	170592397		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592397G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1970C>T	6.37:g.170592397G>A	ENSP00000355718:p.Ala657Val						p.A657V	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2303	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	657					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1970C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	1.928	-0.446737	0.04572	.	.	ENSG00000198719	ENST00000366756	D	0.86097	-2.07	5.11	1.82	0.25136	.	0.749352	0.13055	N	0.417378	T	0.46521	0.1397	N	0.08118	0	0.09310	N	1	B	0.29341	0.242	B	0.15870	0.014	T	0.34229	-0.9837	10	0.33141	T	0.24	.	7.4574	0.27274	0.0884:0.0:0.3525:0.5592	.	657	O00548	DLL1_HUMAN	V	657	ENSP00000355718:A657V	ENSP00000355718:A657V	A	-	2	0	DLL1	170434322	0.072000	0.21174	0.001000	0.08648	0.012000	0.07955	2.494000	0.45329	0.635000	0.30488	-0.137000	0.14449	GCG		0.667	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			13	19	0	0	0	1	0	13	19				
XDH	7498	broad.mit.edu	37	2	31567584	31567584	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31567584C>T	ENST00000379416.3	-	31	3418	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCACTGTGTCCATGTAGGCA	0.527																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3370-3372)Gac>Aac		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						159.0	123.0	135.0					2																	31567584		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31567584C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3370G>A	2.37:g.31567584C>T	ENSP00000368727:p.Asp1124Asn						p.D1124N	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			31	3418	-	Acute lymphoblastic leukemia(172;0.155)		1124					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3370G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114947	0.37339	.	.	ENSG00000158125	ENST00000379416	T	0.38560	1.13	5.11	0.077	0.14406	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.547337	0.21518	N	0.073278	T	0.26955	0.0660	N	0.25380	0.74	0.09310	N	1	B	0.14805	0.011	B	0.20955	0.032	T	0.16988	-1.0384	10	0.37606	T	0.19	.	9.3738	0.38270	0.0:0.4355:0.0:0.5645	.	1124	P47989	XDH_HUMAN	N	1124	ENSP00000368727:D1124N	ENSP00000368727:D1124N	D	-	1	0	XDH	31421088	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.159000	0.10056	-0.213000	0.10094	-0.275000	0.10095	GAC		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		7	24	0	0	0	1	0	7	24				
PSIP1	11168	broad.mit.edu	37	9	15478515	15478515	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:15478515G>A	ENST00000380733.4	-	8	932	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	PSIP1_ENST00000380738.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P197S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P197S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P197S			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	197					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCATTTTGGGTCTGCCTCTT	0.318																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(589-591)Ccc>Tcc		PC4 and SFRS1 interacting protein 1							161.0	159.0	160.0					9																	15478515		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15478515G>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.589C>T	9.37:g.15478515G>A	ENSP00000370109:p.Pro197Ser					PSIP1_ENST00000380738.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P197S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P197S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P197S	p.P197S			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	8	932	-			197					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.589C>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318269	0.60524	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.47528	0.84;0.84;0.92;0.92;0.92	5.93	5.93	0.95920	.	0.099877	0.64402	D	0.000001	T	0.67571	0.2907	M	0.63843	1.955	0.47819	D	0.999523	D;D;D	0.71674	0.998;0.997;0.994	D;P;P	0.66351	0.943;0.879;0.796	T	0.67465	-0.5664	10	0.72032	D	0.01	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	197;197;197	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	S	197	ENSP00000370109:P197S;ENSP00000370114:P197S;ENSP00000370091:P197S;ENSP00000370092:P197S;ENSP00000380653:P197S	ENSP00000370091:P197S	P	-	1	0	PSIP1	15468515	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.282000	0.72639	2.818000	0.97014	0.591000	0.81541	CCC		0.318	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		60	79	0	0	0	1	0	60	79				
FASN	2194	broad.mit.edu	37	17	80044224	80044224	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80044224G>T	ENST00000306749.2	-	22	3856	c.3638C>A	c.(3637-3639)cCt>cAt	p.P1213H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1213					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1213L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCTGAGCAGAGGGTCCTCTGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			1	Substitution - Missense(1)	p.P1213L(1)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3637-3639)cCt>cAt		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						27.0	24.0	25.0					17																	80044224		2186	4293	6479	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80044224G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3638C>A	17.37:g.80044224G>T	ENSP00000304592:p.Pro1213His						p.P1213H	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		22	3856	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1213					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3638C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	2.230	-0.376454	0.05000	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.43294	0.95	4.88	3.81	0.43845	.	0.416754	0.26400	N	0.024588	T	0.32763	0.0840	L	0.29908	0.895	0.42982	D	0.99446	B	0.14012	0.009	B	0.14023	0.01	T	0.14587	-1.0467	10	0.37606	T	0.19	-28.984	15.7664	0.78128	0.0:0.0:0.854:0.146	.	1213	P49327	FAS_HUMAN	H	1213;178	ENSP00000304592:P1213H	ENSP00000304592:P1213H	P	-	2	0	FASN	77637513	1.000000	0.71417	0.945000	0.38365	0.137000	0.21094	3.599000	0.54045	2.245000	0.73994	0.491000	0.48974	CCT		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		7	9	1	0	3.09899e-07	1	3.24337e-07	7	9				
COG2	22796	broad.mit.edu	37	1	230805102	230805102	+	Splice_Site	SNP	C	C	T	rs376181628		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230805102C>T	ENST00000366669.4	+	7	710	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	COG2_ENST00000366668.3_Splice_Site_p.R199C|COG2_ENST00000535166.1_Splice_Site_p.R83C|COG2_ENST00000534989.1_Splice_Site_p.R140C	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTCTTGCAGCGTATAGCTGG	0.418																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.e7-1		component of oligomeric golgi complex 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	106.0	104.0	105.0		595,595	5.5	1.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805102	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230805102C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.595-1C>T	1.37:g.230805102C>T						COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Splice_Site_p.R83_splice|COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000366669.4_Splice_Site_p.R199_splice	p.R140_splice			Q14746	COG2_HUMAN			7	753	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	199					Q86U99	Splice_Site	SNP	ENST00000366669.4	37	c.417_splice	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445212	0.83993	0.0	1.16E-4	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64032	-0.6502	9	.	.	.	-13.1793	19.2959	0.94122	0.0:1.0:0.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	C	199;83;199;140	ENSP00000355629:R199C;ENSP00000445724:R83C;ENSP00000355628:R199C;ENSP00000440349:R140C	.	R	+	1	0	COG2	228871725	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.642000	0.67888	2.564000	0.86499	0.655000	0.94253	CGT		0.418	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Missense_Mutation	18	77	0	0	0	1	0	18	77				
BFSP2	8419	broad.mit.edu	37	3	133119015	133119015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133119015C>T	ENST00000302334.2	+	1	177	c.88C>T	c.(88-90)Cca>Tca	p.P30S		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	30	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTCAGGGGGCCACGGTCATC	0.647																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(88-90)Cca>Tca		beaded filament structural protein 2, phakinin							60.0	70.0	67.0					3																	133119015		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119015C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.88C>T	3.37:g.133119015C>T	ENSP00000304987:p.Pro30Ser						p.P30S	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	177	+			30			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.88C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	7.484	0.649210	0.14516	.	.	ENSG00000170819	ENST00000302334	D	0.81821	-1.54	5.22	-7.02	0.01589	.	0.975741	0.08423	N	0.948036	T	0.42449	0.1203	N	0.01048	-1.04	0.20403	N	0.999904	B	0.02656	0.0	B	0.04013	0.001	T	0.45906	-0.9229	10	0.10902	T	0.67	1.0873	4.6676	0.12673	0.1409:0.3263:0.4223:0.1105	.	30	Q13515	BFSP2_HUMAN	S	30	ENSP00000304987:P30S	ENSP00000304987:P30S	P	+	1	0	BFSP2	134601705	0.027000	0.19231	0.031000	0.17742	0.926000	0.56050	-0.087000	0.11215	-0.910000	0.03847	0.462000	0.41574	CCA		0.647	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			13	22	0	0	0	1	0	13	22				
C18orf25	147339	broad.mit.edu	37	18	43843064	43843064	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43843064C>T	ENST00000282059.6	+	5	1569	c.1195C>T	c.(1195-1197)Cgt>Tgt	p.R399C	C18orf25_ENST00000321319.6_Missense_Mutation_p.R338C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	399										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGATAGCAGGCGTAAATACCT	0.473																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(1195-1197)Cgt>Tgt		chromosome 18 open reading frame 25							60.0	61.0	61.0					18																	43843064		2026	4192	6218	SO:0001583	missense	147339							g.chr18:43843064C>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1195C>T	18.37:g.43843064C>T	ENSP00000282059:p.Arg399Cys					C18orf25_ENST00000321319.6_Missense_Mutation_p.R338C	p.R399C	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			5	1569	+			399					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.1195C>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043780	0.75732	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.31	5.31	0.75309	.	0.056270	0.64402	D	0.000001	T	0.74351	0.3705	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67231	0.832;0.95	T	0.76753	-0.2843	9	0.87932	D	0	-6.4947	18.9981	0.92821	0.0:1.0:0.0:0.0	.	338;399	Q96B23-2;Q96B23	.;CR025_HUMAN	C	399;338	.	ENSP00000282059:R399C	R	+	1	0	C18orf25	42097062	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.349000	0.73013	2.476000	0.83614	0.563000	0.77884	CGT		0.473	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		4	5	0	0	0	1	0	4	5				
TCEB3C	162699	broad.mit.edu	37	18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T	rs541677478		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555262C>T	ENST00000330682.2	-	1	1187	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	318	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(952-954)Gct>Act		transcription elongation factor B polypeptide 3C (elongin A3)							193.0	203.0	199.0					18																	44555262		1901	3717	5618	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555262C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.952G>A	18.37:g.44555262C>T	ENSP00000328232:p.Ala318Thr					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.A318T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1187	-			318			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.952G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.348	0.622273	0.14193	.	.	ENSG00000183791	ENST00000330682	T	0.11712	2.75	1.1	-2.21	0.06973	.	0.437986	0.19287	N	0.118005	T	0.04724	0.0128	L	0.28274	0.84	0.09310	N	1	B	0.29232	0.238	B	0.12156	0.007	T	0.25813	-1.0121	10	0.44086	T	0.13	-10.3348	1.8769	0.03220	0.3863:0.332:0.0:0.2817	.	318	Q8NG57	ELOA3_HUMAN	T	318	ENSP00000328232:A318T	ENSP00000328232:A318T	A	-	1	0	TCEB3C	42809260	0.993000	0.37304	0.001000	0.08648	0.003000	0.03518	1.618000	0.36954	-0.811000	0.04369	-0.515000	0.04445	GCT		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		12	733	0	0	0	1	0	12	733				
SCAP	22937	broad.mit.edu	37	3	47458688	47458688	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47458688C>T	ENST00000265565.5	-	18	3392	c.2980G>A	c.(2980-2982)Gcc>Acc	p.A994T	SCAP_ENST00000441517.2_Missense_Mutation_p.A738T|SCAP_ENST00000545718.1_Missense_Mutation_p.A601T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	994	Interaction with SREBF2. {ECO:0000250}.			A -> S (in Ref. 6; BAC11673). {ECO:0000305}.	aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCTTCAATGGCGTCCCACACC	0.637																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2980-2982)Gcc>Acc		SREBF chaperone							81.0	64.0	70.0					3																	47458688		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47458688C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2980G>A	3.37:g.47458688C>T	ENSP00000265565:p.Ala994Thr					SCAP_ENST00000441517.2_Missense_Mutation_p.A738T|SCAP_ENST00000545718.1_Missense_Mutation_p.A601T	p.A994T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	18	3392	-			994	A -> S (in Ref. 6; BAC11673).		Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.2980G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962919	0.92791	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.42131	1.62;2.23;0.98	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115945	0.64402	D	0.000019	T	0.38532	0.1044	L	0.29908	0.895	0.80722	D	1	D;D	0.62365	0.991;0.99	P;P	0.46543	0.477;0.52	T	0.16217	-1.0410	10	0.35671	T	0.21	-31.5839	17.5002	0.87728	0.0:1.0:0.0:0.0	.	738;994	F8W921;Q12770	.;SCAP_HUMAN	T	486;620;994;738;601	ENSP00000265565:A994T;ENSP00000416847:A738T;ENSP00000438956:A601T	ENSP00000265565:A994T	A	-	1	0	SCAP	47433692	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	5.431000	0.66507	2.466000	0.83321	0.561000	0.74099	GCC		0.637	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		5	10	0	0	0	1	0	5	10				
KALRN	8997	broad.mit.edu	37	3	124017682	124017682	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124017682C>T	ENST00000240874.3	+	6	1165	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	KALRN_ENST00000360013.3_Silent_p.S336S|KALRN_ENST00000460856.1_Silent_p.S336S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	336					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCTCCAGAGCCACACGGAGA	0.512																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1006-1008)agC>agT		kalirin, RhoGEF kinase							223.0	203.0	210.0					3																	124017682		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124017682C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1008C>T	3.37:g.124017682C>T						KALRN_ENST00000240874.3_Silent_p.S336S|KALRN_ENST00000460856.1_Silent_p.S336S	p.S336S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			6	1135	+			336					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1008C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399331	0.25291	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.55	4.61	0.57282	.	.	.	.	.	T	0.49081	0.1536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45101	-0.9284	4	.	.	.	.	4.6257	0.12477	0.0:0.7364:0.0:0.2636	.	.	.	.	V	314	.	.	A	+	2	0	KALRN	125500372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.501000	0.35693	2.894000	0.99253	0.655000	0.94253	GCC		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		39	57	0	0	0	1	0	39	57				
ANO6	196527	broad.mit.edu	37	12	45751119	45751119	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45751119T>C	ENST00000320560.8	+	8	1112	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	ANO6_ENST00000425752.2_Missense_Mutation_p.Y304H|ANO6_ENST00000435642.1_Missense_Mutation_p.Y304H|ANO6_ENST00000423947.3_Missense_Mutation_p.Y325H|ANO6_ENST00000441606.2_Missense_Mutation_p.Y286H|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	304					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGCTGGGCTATTACACTCA	0.393																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(910-912)Tat>Cat		anoctamin 6							142.0	141.0	141.0					12																	45751119		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45751119T>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.910T>C	12.37:g.45751119T>C	ENSP00000320087:p.Tyr304His					ANO6_ENST00000425752.2_Missense_Mutation_p.Y304H|ANO6_ENST00000441606.2_Missense_Mutation_p.Y286H|ANO6_ENST00000435642.1_Missense_Mutation_p.Y304H|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.Y325H	p.Y304H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			8	1112	+			304					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.910T>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114160	0.77210	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.26	5.26	0.73747	.	0.180746	0.49305	D	0.000151	T	0.67287	0.2877	L	0.28054	0.825	0.43907	D	0.996546	D;B;D;P	0.63880	0.979;0.051;0.993;0.845	P;B;D;P	0.63703	0.905;0.098;0.917;0.642	T	0.70710	-0.4797	10	0.59425	D	0.04	.	15.898	0.79350	0.0:0.0:0.0:1.0	.	286;325;304;304	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	304;325;304;304;286	ENSP00000391417:Y304H;ENSP00000409126:Y325H;ENSP00000413840:Y304H;ENSP00000320087:Y304H;ENSP00000413137:Y286H	ENSP00000320087:Y304H	Y	+	1	0	ANO6	44037386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.136000	0.71703	2.291000	0.77112	0.533000	0.62120	TAT		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		28	50	0	0	0	1	0	28	50				
AL133247.2	0	broad.mit.edu	37	2	31754466	31754466	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31754466G>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							CCAGGGCATAGCCGATCCATT	0.473																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						74.0	74.0	74.0					2																	31754466		1954	4143	6097			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754466G>T																													2.37:g.31754466G>T						AL133247.2_ENST00000435713.1_RNA				P31213	S5A2_HUMAN			0	774	-	Acute lymphoblastic leukemia(172;0.155)								RNA	SNP	ENST00000435713.1	37																																																																																						0.473	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			13	20	1	0	7.03913e-09	1	7.44699e-09	13	20				
ATG9A	79065	broad.mit.edu	37	2	220091656	220091656	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220091656G>A	ENST00000409618.1	-	5	587		c.e5-1		ATG9A_ENST00000396761.2_Splice_Site|ANKZF1_ENST00000409849.1_5'Flank|ANKZF1_ENST00000410034.3_5'Flank|ANKZF1_ENST00000323348.5_5'Flank|ATG9A_ENST00000361242.4_Splice_Site|ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000488833.1_Splice_Site|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A						autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTATAAACGTGTAATTGTT	0.408																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.e5-1		autophagy related 9A							88.0	83.0	85.0					2																	220091656		1896	4114	6010	SO:0001630	splice_region_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220091656G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.148-1C>T	2.37:g.220091656G>A						ATG9A_ENST00000361242.4_Splice_Site|ATG9A_ENST00000409422.1_Splice_Site|ATG9A_ENST00000488833.1_Splice_Site|ATG9A_ENST00000396761.2_Splice_Site				Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	587	-		Renal(207;0.0474)						Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Splice_Site	SNP	ENST00000409618.1	37		CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453302	0.63290	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4363	0.67282	0.0:0.147:0.853:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATG9A	219799900	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	6.325000	0.72901	2.677000	0.91161	0.491000	0.48974	.		0.408	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	Intron	13	32	0	0	0	1	0	13	32				
RYR1	6261	broad.mit.edu	37	19	39052042	39052042	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39052042G>A	ENST00000359596.3	+	90	12572	c.12572G>A	c.(12571-12573)cGc>cAc	p.R4191H	RYR1_ENST00000360985.3_Missense_Mutation_p.R4186H|RYR1_ENST00000355481.4_Missense_Mutation_p.R4186H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4191					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCATCGAGCGCATCTACTTC	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12556-12558)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71.0	55.0	61.0					19																	39052042		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39052042G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12572G>A	19.37:g.39052042G>A	ENSP00000352608:p.Arg4191His					RYR1_ENST00000360985.3_Missense_Mutation_p.R4186H|RYR1_ENST00000359596.3_Missense_Mutation_p.R4191H	p.R4186H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		89	12688	+	all_cancers(60;7.91e-06)		4191					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12557G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895501	0.52121	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98207	-4.79;-4.79;-4.79	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000010	D	0.99001	0.9659	M	0.90198	3.095	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	D	0.99229	1.0881	10	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:1.0:0.0	.	4186;4186;4191	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	4191;4186;4186	ENSP00000352608:R4191H;ENSP00000347667:R4186H;ENSP00000354254:R4186H	ENSP00000347667:R4186H	R	+	2	0	RYR1	43743882	1.000000	0.71417	0.936000	0.37596	0.931000	0.56810	9.549000	0.98106	1.963000	0.57068	0.298000	0.19748	CGC		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	19	0	0	0	1	0	15	19				
RPGR	6103	broad.mit.edu	37	X	38182682	38182682	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38182682A>G	ENST00000339363.3	-	2	291	c.124T>C	c.(124-126)Tgt>Cgt	p.C42R	RPGR_ENST00000342811.3_Missense_Mutation_p.C42R|RPGR_ENST00000338898.3_Missense_Mutation_p.C42R|RPGR_ENST00000318842.7_Missense_Mutation_p.C42R|RPGR_ENST00000309513.3_Missense_Mutation_p.C42R|RPGR_ENST00000378505.2_Missense_Mutation_p.C42R|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	42					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCATCTCCACATGAAAGATGT	0.333																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(124-126)Tgt>Cgt		retinitis pigmentosa GTPase regulator							51.0	45.0	47.0					X																	38182682		2202	4298	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38182682A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.124T>C	X.37:g.38182682A>G	ENSP00000343671:p.Cys42Arg					RPGR_ENST00000309513.3_Missense_Mutation_p.C42R|RPGR_ENST00000342811.3_Missense_Mutation_p.C42R|RPGR_ENST00000339363.3_Missense_Mutation_p.C42R|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.C42R|RPGR_ENST00000318842.7_Missense_Mutation_p.C42R	p.C42R	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			2	300	-			42					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.124T>C		.	.	.	.	.	.	.	.	.	.	A	18.78	3.696043	0.68386	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.91250	0.7242	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92946	0.6376	10	0.87932	D	0	.	14.454	0.67404	1.0:0.0:0.0:0.0	.	42;42	E9PE28;Q92834-2	.;.	R	42	ENSP00000343671:C42R;ENSP00000308783:C42R;ENSP00000340208:C42R;ENSP00000322219:C42R;ENSP00000339531:C42R;ENSP00000367766:C42R	ENSP00000308783:C42R	C	-	1	0	RPGR	38067626	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	5.697000	0.68295	1.873000	0.54277	0.417000	0.27973	TGT		0.333	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		3	24	0	0	0	1	0	3	24				
ERAL1	26284	broad.mit.edu	37	17	27185652	27185652	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27185652G>A	ENST00000254928.5	+	7	867	c.770G>A	c.(769-771)gGt>gAt	p.G257D	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	257	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCACTGAAGGTGTGGTCAAT	0.542																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(769-771)gGt>gAt		Era-like 12S mitochondrial rRNA chaperone 1							105.0	103.0	104.0					17																	27185652		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27185652G>A	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.770G>A	17.37:g.27185652G>A	ENSP00000254928:p.Gly257Asp						p.G257D	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		7	867	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		257					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.770G>A	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488960	0.84962	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	D	0.95238	-3.65	5.91	5.91	0.95273	.	0.043704	0.85682	D	0.000000	D	0.97250	0.9101	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.96627	0.9464	10	0.45353	T	0.12	-13.7145	18.8601	0.92268	0.0:0.0:1.0:0.0	.	257	O75616	ERAL1_HUMAN	D	257;197	ENSP00000254928:G257D	ENSP00000254928:G257D	G	+	2	0	ERAL1	24209778	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.138000	0.71717	2.813000	0.96785	0.655000	0.94253	GGT		0.542	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			7	94	0	0	0	1	0	7	94				
HUWE1	10075	broad.mit.edu	37	X	53561001	53561001	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:53561001C>A	ENST00000342160.3	-	82	13446	c.12989G>T	c.(12988-12990)aGg>aTg	p.R4330M	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4330M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4330	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCTGTGGACCTGTCATCTCG	0.488																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12988-12990)aGg>aTg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							160.0	123.0	135.0					X																	53561001		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53561001C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12989G>T	X.37:g.53561001C>A	ENSP00000340648:p.Arg4330Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4330M	p.R4330M			Q7Z6Z7	HUWE1_HUMAN			82	13446	-			4330			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12989G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.04|13.04	2.119751|2.119751	0.37436|0.37436	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.57907	.|0.37;0.37	5.42|5.42	5.42|5.42	0.78866|0.78866	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69851|0.69851	0.3157|0.3157	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60575	.|0.988;0.985	.|D;D	.|0.71870	.|0.975;0.957	T|T	0.69957|0.69957	-0.5004|-0.5004	5|10	.|0.48119	.|T	.|0.1	.|.	17.2866|17.2866	0.87143|0.87143	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4330;4314	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	H|M	3363;1152|4330	.|ENSP00000340648:R4330M;ENSP00000262854:R4330M	.|ENSP00000262854:R4330M	Q|R	-|-	3|2	2|0	HUWE1|HUWE1	53577726|53577726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.035000|7.035000	0.76517|0.76517	2.436000|2.436000	0.82500|0.82500	0.529000|0.529000	0.55759|0.55759	CAG|AGG		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		22	4	1	0	9.04412e-07	1	9.43082e-07	22	4				
FGF11	2256	broad.mit.edu	37	17	7346082	7346082	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7346082C>A	ENST00000293829.4	+	4	1172	c.578C>A	c.(577-579)gCt>gAt	p.A193D	CHRNB1_ENST00000306071.2_5'Flank|FGF11_ENST00000575398.1_Missense_Mutation_p.A69D|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_Missense_Mutation_p.A69D|FGF11_ENST00000572907.1_Missense_Mutation_p.A69D|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000576360.1_5'Flank|FGF11_ENST00000575235.1_Missense_Mutation_p.A69D|CHRNB1_ENST00000536404.2_5'Flank	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	193					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCAAGGCAGCTGCCCACTTT	0.572																																						ENST00000575331.1																			0				central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6						c.(205-207)gCt>gAt		fibroblast growth factor 11							97.0	106.0	103.0					17																	7346082		2203	4300	6503	SO:0001583	missense	2256				cell-cell signaling|nervous system development|signal transduction		growth factor activity	g.chr17:7346082C>A		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.578C>A	17.37:g.7346082C>A	ENSP00000293829:p.Ala193Asp					RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_Missense_Mutation_p.A193D|FGF11_ENST00000572907.1_Missense_Mutation_p.A69D|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Missense_Mutation_p.A69D|FGF11_ENST00000575082.1_Missense_Mutation_p.A69D|FGF11_ENST00000575398.1_Missense_Mutation_p.A69D	p.A69D			Q92914	FGF11_HUMAN			3	2350	+		Prostate(122;0.157)	193					Q2YDX8	Missense_Mutation	SNP	ENST00000293829.4	37	c.206C>A	CCDS11105.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760905	0.69763	.	.	ENSG00000161958	ENST00000293829	D	0.82433	-1.61	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.74546	2.27	0.48288	D	0.999623	D;D	0.58620	0.983;0.97	P;P	0.62491	0.903;0.863	D	0.89985	0.4103	10	0.59425	D	0.04	.	16.518	0.84306	0.0:1.0:0.0:0.0	.	134;193	B7Z1C3;Q92914	.;FGF11_HUMAN	D	193	ENSP00000293829:A193D	ENSP00000293829:A193D	A	+	2	0	FGF11	7286806	1.000000	0.71417	0.968000	0.41197	0.933000	0.57130	7.228000	0.78079	2.847000	0.97988	0.591000	0.81541	GCT		0.572	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112		36	56	1	0	2.09667e-21	1	2.32829e-21	36	56				
OR2T12	127064	broad.mit.edu	37	1	248458392	248458392	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248458392G>A	ENST00000317996.1	-	1	488	c.489C>T	c.(487-489)agC>agT	p.S163S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AATATGGGAAGCTCAGGGTAG	0.582																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(487-489)agC>agT		olfactory receptor, family 2, subfamily T, member 12							82.0	82.0	82.0					1																	248458392		2198	4298	6496	SO:0001819	synonymous_variant	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458392G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.489C>T	1.37:g.248458392G>A							p.S163S	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	488	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		163						Silent	SNP	ENST00000317996.1	37	c.489C>T	CCDS31110.1																																																																																				0.582	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		22	28	0	0	0	1	0	22	28				
RIPK1	8737	broad.mit.edu	37	6	3077075	3077075	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:3077075C>A	ENST00000259808.4	+	2	316	c.18C>A	c.(16-18)tcC>tcA	p.S6S	RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_Silent_p.S6S|RIPK1_ENST00000380409.2_Silent_p.S6S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	6					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CAGACATGTCCTTGAATGTCA	0.488																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(16-18)tcC>tcA		receptor (TNFRSF)-interacting serine-threonine kinase 1							76.0	70.0	72.0					6																	3077075		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077075C>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.18C>A	6.37:g.3077075C>A						RIPK1_ENST00000541791.1_Silent_p.S6S|RIPK1_ENST00000380409.2_Silent_p.S6S|RIPK1_ENST00000479389.1_Intron	p.S6S			Q13546	RIPK1_HUMAN			2	316	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	6					A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.18C>A	CCDS4482.1																																																																																				0.488	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		3	30	1	0	0.150653	1	0.151081	3	30				
ABCA2	20	broad.mit.edu	37	9	139912118	139912118	+	Silent	SNP	G	G	A	rs368981949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139912118G>A	ENST00000371605.3	-	16	2382	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Silent_p.N746N|ABCA2_ENST00000265662.5_Silent_p.N746N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	745					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTGCACCGCGTTGTTCAGGC	0.677																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2236-2238)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	1,4159		0,1,2079	62.0	71.0	68.0		2238,2328	-3.0	0.9	9		68	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6277	AA,AG,GG		0.0,0.024,0.0080	,	746/2437,776/2467	139912118	1,12555	2080	4198	6278	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912118G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2235C>T	9.37:g.139912118G>A						ABCA2_ENST00000371605.3_Silent_p.N745N|ABCA2_ENST00000341511.6_Silent_p.N746N	p.N746N			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	17	2385	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	745					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.2238C>T																																																																																					0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		10	26	0	0	0	1	0	10	26				
PNMA1	9240	broad.mit.edu	37	14	74179676	74179676	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74179676C>T	ENST00000316836.3	-	1	1452	c.667G>A	c.(667-669)Gcg>Acg	p.A223T		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	223					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		gtggttatcgcggggttgttg	0.532																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(667-669)Gcg>Acg		paraneoplastic Ma antigen 1							67.0	75.0	73.0					14																	74179676		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179676C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.667G>A	14.37:g.74179676C>T	ENSP00000318914:p.Ala223Thr						p.A223T	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1452	-			223					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.667G>A	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	C	7.923	0.738936	0.15642	.	.	ENSG00000176903	ENST00000316836	T	0.09630	2.96	4.27	2.34	0.29019	.	0.710357	0.12295	N	0.481667	T	0.05868	0.0153	N	0.17082	0.46	0.09310	N	1	P	0.35050	0.482	B	0.26693	0.072	T	0.36040	-0.9764	10	0.33940	T	0.23	-4.6852	9.1291	0.36835	0.3979:0.6021:0.0:0.0	.	223	Q8ND90	PNMA1_HUMAN	T	223	ENSP00000318914:A223T	ENSP00000318914:A223T	A	-	1	0	PNMA1	73249429	0.006000	0.16342	0.006000	0.13384	0.957000	0.61999	0.494000	0.22467	0.670000	0.31165	0.655000	0.94253	GCG		0.532	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		41	64	0	0	0	1	0	41	64				
ARVCF	421	broad.mit.edu	37	22	19967464	19967464	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19967464G>A	ENST00000263207.3	-	6	1489	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ARVCF_ENST00000401994.1_Missense_Mutation_p.R337W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R337W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R337W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R400W|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	400					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGCCCCCGCAACTGCCGT	0.697																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1198-1200)Cgg>Tgg		armadillo repeat gene deleted in velocardiofacial syndrome							15.0	15.0	15.0					22																	19967464		2177	4261	6438	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19967464G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1198C>T	22.37:g.19967464G>A	ENSP00000263207:p.Arg400Trp					ARVCF_ENST00000344269.3_Missense_Mutation_p.R337W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R337W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R400W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R337W	p.R400W	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			6	1489	-	Colorectal(54;0.0993)		400					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1198C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361131	0.82353	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	4.61	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);	0.054518	0.64402	D	0.000001	T	0.72630	0.3484	L	0.48642	1.525	0.40583	D	0.981419	D	0.76494	0.999	D	0.72625	0.978	T	0.71144	-0.4678	9	.	.	.	-21.2059	10.5617	0.45150	0.0:0.0:0.6286:0.3714	.	400	O00192	ARVC_HUMAN	W	400;337;337;337;400	ENSP00000263207:R400W;ENSP00000342042:R337W;ENSP00000384341:R337W;ENSP00000384732:R337W;ENSP00000385444:R400W	.	R	-	1	2	ARVCF	18347464	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.515000	0.60489	2.589000	0.87451	0.650000	0.86243	CGG		0.697	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		5	2	0	0	0	1	0	5	2				
PYY	5697	broad.mit.edu	37	17	42030704	42030704	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42030704C>T	ENST00000360085.2	-	5	688	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	PYY_ENST00000592796.1_Missense_Mutation_p.A50T	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	50					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGCAGGGAGGCGTAGTAGCGG	0.721																																						ENST00000360085.2																			0				endometrium(1)|ovary(1)	2						c.(148-150)Gcc>Acc		peptide YY							19.0	20.0	20.0					17																	42030704		2202	4297	6499	SO:0001583	missense	5697				cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction		g.chr17:42030704C>T		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"""Endogenous ligands"""	9748	protein-coding gene	gene with protein product	"""prepro-PYY"""	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.148G>A	17.37:g.42030704C>T	ENSP00000353198:p.Ala50Thr					PYY_ENST00000592796.1_Missense_Mutation_p.A50T	p.A50T	NM_004160.4	NP_004151.3	P10082	PYY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	688	-		Breast(137;0.00314)|Prostate(33;0.0724)	50					Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	c.148G>A	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.257006	0.39896	.	.	ENSG00000131096	ENST00000360085	T	0.47528	0.84	4.64	-0.0658	0.13767	Pancreatic hormone-like, conserved site (1);	.	.	.	.	T	0.26448	0.0646	.	.	.	0.32203	N	0.577528	B	0.18863	0.031	B	0.15870	0.014	T	0.26710	-1.0095	8	0.21014	T	0.42	-0.5024	4.2504	0.10691	0.0:0.5133:0.1665:0.3203	.	50	P10082	PYY_HUMAN	T	50	ENSP00000353198:A50T	ENSP00000353198:A50T	A	-	1	0	PYY	39386230	0.998000	0.40836	0.983000	0.44433	0.772000	0.43724	0.474000	0.22148	-0.262000	0.09392	-0.390000	0.06520	GCC		0.721	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160		6	13	0	0	0	1	0	6	13				
LOC645752	645752	broad.mit.edu	37	15	78211298	78211298	+	lincRNA	SNP	G	G	A	rs554410727		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78211298G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCTGCTTGCGTAGCCTCTGC	0.572													N|||	1	0.000199681	0.0	0.0	5008	,	,		17350	0.0		0.001	False		,,,				2504	0.0					ENST00000565869.1																			0																																																			0							g.chr15:78211298G>A																													15.37:g.78211298G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			56	122	0	0	0	1	0	56	122				
CPAMD8	27151	broad.mit.edu	37	19	17104395	17104395	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17104395A>G	ENST00000443236.1	-	12	1269	c.1238T>C	c.(1237-1239)gTg>gCg	p.V413A	CPAMD8_ENST00000388925.4_Splice_Site_p.V366A	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	366						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGATAGCTCCACCTAGAAAAG	0.532																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e12-1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							51.0	50.0	50.0					19																	17104395		1972	4147	6119	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17104395A>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1237-1T>C	19.37:g.17104395A>G						CPAMD8_ENST00000388925.4_Splice_Site_p.V366_splice	p.V413_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			12	1269	-			366					Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.1236_splice	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.71|13.71	2.319519|2.319519	0.41096|0.41096	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.60797|.	0.16;0.18|.	3.04|3.04	3.04|3.04	0.35103|0.35103	.|.	0.190167|.	0.35096|.	N|.	0.003460|.	T|T	0.67221|0.67221	0.2870|0.2870	M|M	0.75615|0.75615	2.305|2.305	0.35475|0.35475	D|D	0.797659|0.797659	P|.	0.45396|.	0.857|.	B|.	0.42062|.	0.374|.	T|T	0.74740|0.74740	-0.3563|-0.3563	10|5	0.41790|.	T|.	0.15|.	.|.	11.5154|11.5154	0.50518|0.50518	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	366|.	Q8IZJ3|.	CPMD8_HUMAN|.	A|R	413;366|424	ENSP00000291440:V413A;ENSP00000373577:V366A|.	ENSP00000291440:V413A|.	V|W	-|-	2|1	0|0	CPAMD8|CPAMD8	16965395|16965395	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.158000|0.158000	0.22134|0.22134	7.500000|7.500000	0.81588|0.81588	1.184000|1.184000	0.42957|0.42957	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.532	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	5	27	0	0	0	1	0	5	27				
ATP13A3	79572	broad.mit.edu	37	3	194167660	194167660	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:194167660T>C	ENST00000439040.1	-	14	2284	c.1493A>G	c.(1492-1494)gAc>gGc	p.D498G	ATP13A3_ENST00000256031.4_Missense_Mutation_p.D498G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	498						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACCCACCTTGTCAAAGCAAAC	0.323																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1492-1494)gAc>gGc		ATPase type 13A3							106.0	99.0	102.0					3																	194167660		1844	4093	5937	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194167660T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1493A>G	3.37:g.194167660T>C	ENSP00000416508:p.Asp498Gly					ATP13A3_ENST00000256031.4_Missense_Mutation_p.D498G	p.D498G			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	14	2284	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	498					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1493A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609859	0.87258	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.99865	-7.29;-7.29	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92555	3.32	0.80722	D	1	D	0.64830	0.994	D	0.79784	0.993	D	0.96151	0.9108	10	0.87932	D	0	-14.194	15.4464	0.75235	0.0:0.0:0.0:1.0	.	498	Q9H7F0	AT133_HUMAN	G	498;498;236	ENSP00000416508:D498G;ENSP00000256031:D498G	ENSP00000256031:D498G	D	-	2	0	ATP13A3	195648949	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.614000	0.82996	2.029000	0.59856	0.482000	0.46254	GAC		0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		4	83	0	0	0	1	0	4	83				
MRC2	9902	broad.mit.edu	37	17	60757603	60757603	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60757603G>A	ENST00000303375.5	+	15	2773	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	791	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGACCTGGCCTCCCTGCA	0.652																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2371-2373)Gcc>Acc		mannose receptor, C type 2							61.0	57.0	59.0					17																	60757603		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757603G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2371G>A	17.37:g.60757603G>A	ENSP00000307513:p.Ala791Thr						p.A791T	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			15	2773	+			791			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2371G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558765	0.86231	.	.	ENSG00000011028	ENST00000303375	T	0.18810	2.19	5.41	4.44	0.53790	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.183587	0.48286	N	0.000183	T	0.21062	0.0507	N	0.17800	0.525	0.80722	D	1	D	0.54207	0.965	P	0.57960	0.83	T	0.06445	-1.0826	10	0.13853	T	0.58	-26.089	8.8013	0.34909	0.0752:0.0:0.7754:0.1495	.	791	Q9UBG0	MRC2_HUMAN	T	791	ENSP00000307513:A791T	ENSP00000307513:A791T	A	+	1	0	MRC2	58111335	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.082000	0.71318	1.287000	0.44583	0.305000	0.20034	GCC		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			5	12	0	0	0	1	0	5	12				
TBXA2R	6915	broad.mit.edu	37	19	3600381	3600381	+	Silent	SNP	G	G	A	rs200822145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3600381G>A	ENST00000375190.4	-	2	645	c.252C>T	c.(250-252)atC>atT	p.I84I	TBXA2R_ENST00000589966.1_Silent_p.I84I|TBXA2R_ENST00000411851.3_Silent_p.I84I|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	84					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGGACACCACGATGGTACCGG	0.672																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(250-252)atC>atT		thromboxane A2 receptor	Ridogrel(DB01207)	G	,	1,4325		0,1,2162	37.0	51.0	46.0		252,252	0.8	0.9	19		46	0,8482		0,0,4241	no	coding-synonymous,coding-synonymous	TBXA2R	NM_001060.5,NM_201636.2	,	0,1,6403	AA,AG,GG		0.0,0.0231,0.0078	,	84/344,84/408	3600381	1,12807	2163	4241	6404	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600381G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.252C>T	19.37:g.3600381G>A						TBXA2R_ENST00000411851.3_Silent_p.I84I|TBXA2R_ENST00000589966.1_Silent_p.I84I	p.I84I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	645	-		Hepatocellular(1079;0.137)	84					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.252C>T	CCDS42467.1																																																																																				0.672	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			10	24	0	0	0	1	0	10	24				
ZNF787	126208	broad.mit.edu	37	19	56600280	56600280	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56600280C>T	ENST00000270459.3	-	3	379	c.261G>A	c.(259-261)acG>acA	p.T87T		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCCGGTGTGCGTGCGCTGGT	0.716																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(259-261)acG>acA		zinc finger protein 787							15.0	16.0	16.0					19																	56600280		2198	4287	6485	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600280C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.261G>A	19.37:g.56600280C>T							p.T87T	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	379	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	87					O00455	Silent	SNP	ENST00000270459.3	37	c.261G>A	CCDS42634.1																																																																																				0.716	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		8	15	0	0	0	1	0	8	15				
LAG3	3902	broad.mit.edu	37	12	6886984	6886984	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6886984G>A	ENST00000203629.2	+	7	1661	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	443					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGAGCCCCAGGTGCCCTCCCA	0.527																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1327-1329)gGt>gAt		lymphocyte-activation gene 3							100.0	97.0	98.0					12																	6886984		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886984G>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1328G>A	12.37:g.6886984G>A	ENSP00000203629:p.Gly443Asp						p.G443D	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			7	1661	+			443					A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.1328G>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292038	0.23564	.	.	ENSG00000089692	ENST00000203629	T	0.12361	2.69	5.1	1.72	0.24424	.	0.693222	0.13750	N	0.365340	T	0.13670	0.0331	M	0.72118	2.19	0.09310	N	1	B	0.20368	0.044	B	0.17433	0.018	T	0.27502	-1.0072	10	0.42905	T	0.14	-1.2997	2.7045	0.05158	0.27:0.0:0.5084:0.2217	.	443	P18627	LAG3_HUMAN	D	443	ENSP00000203629:G443D	ENSP00000203629:G443D	G	+	2	0	LAG3	6757245	0.000000	0.05858	0.012000	0.15200	0.041000	0.13682	0.536000	0.23129	0.531000	0.28639	0.455000	0.32223	GGT		0.527	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			15	34	0	0	0	1	0	15	34				
EIF5	1983	broad.mit.edu	37	14	103803076	103803076	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103803076C>T	ENST00000216554.3	+	5	893	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	EIF5_ENST00000392715.2_Missense_Mutation_p.R73C|EIF5_ENST00000558506.1_Missense_Mutation_p.R73C|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	73					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TAAGAATGACCGTTACATTGT	0.388																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(217-219)Cgt>Tgt		eukaryotic translation initiation factor 5							129.0	119.0	122.0					14																	103803076		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103803076C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.217C>T	14.37:g.103803076C>T	ENSP00000216554:p.Arg73Cys					EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.R73C|EIF5_ENST00000558506.1_Missense_Mutation_p.R73C	p.R73C	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		5	893	+		Melanoma(154;0.155)	73					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.217C>T	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.106954	0.77096	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.50277	0.75;0.75	5.72	4.84	0.62591	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.095245	0.85682	N	0.000000	T	0.55768	0.1941	M	0.81497	2.545	0.80722	D	1	P	0.38110	0.618	B	0.40741	0.339	T	0.63319	-0.6664	10	0.87932	D	0	-1.3714	14.6325	0.68666	0.0:0.9303:0.0:0.0697	.	73	P55010	IF5_HUMAN	C	73	ENSP00000216554:R73C;ENSP00000376477:R73C	ENSP00000216554:R73C	R	+	1	0	EIF5	102872829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	1.437000	0.47472	0.555000	0.69702	CGT		0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		30	50	0	0	0	1	0	30	50				
APBB2	323	broad.mit.edu	37	4	41016017	41016017	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41016017G>A	ENST00000295974.8	-	6	1047	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	APBB2_ENST00000506352.1_Missense_Mutation_p.P140S|APBB2_ENST00000513140.1_Missense_Mutation_p.P140S|APBB2_ENST00000508593.1_Missense_Mutation_p.P140S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	140					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGTGGGTGGGGCTCTTTACCC	0.517																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(418-420)Ccc>Tcc		amyloid beta (A4) precursor protein-binding, family B, member 2							60.0	59.0	60.0					4																	41016017		1860	4105	5965	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016017G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.418C>T	4.37:g.41016017G>A	ENSP00000295974:p.Pro140Ser					APBB2_ENST00000508593.1_Missense_Mutation_p.P140S|APBB2_ENST00000513140.1_Missense_Mutation_p.P140S|APBB2_ENST00000506352.1_Missense_Mutation_p.P140S	p.P140S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1047	-			140					B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.418C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.150|4.150	0.026328|0.026328	0.08054|0.08054	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352;ENST00000509446	.|T;T;T;T;T	.|0.24538	.|1.85;1.85;1.85;1.85;1.85	5.71|5.71	3.02|3.02	0.34903|0.34903	.|.	.|0.664397	.|0.15886	.|N	.|0.239794	T|T	0.14527|0.14527	0.0351|0.0351	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.22604	.|0.072;0.001;0.003;0.001	.|B;B;B;B	.|0.24006	.|0.05;0.001;0.007;0.001	T|T	0.07849|0.07849	-1.0751|-1.0751	5|10	.|0.20046	.|T	.|0.44	-3.5712|-3.5712	10.3912|10.3912	0.44168|0.44168	0.0682:0.3871:0.5447:0.0|0.0682:0.3871:0.5447:0.0	.|.	.|123;140;140;140	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	V|S	129|140;139;140;140;140;123	.|ENSP00000295974:P140S;ENSP00000426018:P140S;ENSP00000427211:P140S;ENSP00000421539:P140S;ENSP00000424414:P123S	.|ENSP00000295974:P140S	A|P	-|-	2|1	0|0	APBB2|APBB2	40710774|40710774	0.994000|0.994000	0.37717|0.37717	0.985000|0.985000	0.45067|0.45067	0.017000|0.017000	0.09413|0.09413	1.267000|1.267000	0.33050|0.33050	0.754000|0.754000	0.32968|0.32968	-0.359000|-0.359000	0.07587|0.07587	GCC|CCC		0.517	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		36	41	0	0	0	1	0	36	41				
LAMA3	3909	broad.mit.edu	37	18	21396450	21396450	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21396450C>T	ENST00000313654.9	+	18	2387	c.2146C>T	c.(2146-2148)Cgg>Tgg	p.R716W	LAMA3_ENST00000399516.3_Splice_Site_p.R716W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	716	Domain V.|Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGTGTGCCAGCGGTGAGTCTT	0.572																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.e18+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129.0	149.0	143.0					18																	21396450		2105	4210	6315	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21396450C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2147+1C>T	18.37:g.21396450C>T						LAMA3_ENST00000399516.3_Splice_Site_p.R716_splice	p.R716_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			18	2387	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		716			Domain V.|Laminin EGF-like 8.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37	c.2147_splice	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049245	0.19827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.64991	-0.13;-0.13	5.31	1.22	0.21188	EGF-like, laminin (3);	.	.	.	.	T	0.62417	0.2426	M	0.90922	3.16	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.04013	0.001;0.001	T	0.58601	-0.7608	9	0.62326	D	0.03	.	2.2623	0.04070	0.1493:0.511:0.1116:0.2282	.	716;716	Q6VU67;Q16787	.;LAMA3_HUMAN	W	716;716;714	ENSP00000324532:R716W;ENSP00000382432:R716W	ENSP00000324532:R716W	R	+	1	2	LAMA3	19650448	0.969000	0.33509	0.995000	0.50966	0.197000	0.23852	0.304000	0.19228	-0.016000	0.14127	-1.069000	0.02264	CGG		0.572	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	9	8	0	0	0	1	0	9	8				
KIF3A	11127	broad.mit.edu	37	5	132056317	132056317	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132056317C>T	ENST00000378746.4	-	5	818	c.600G>A	c.(598-600)acG>acA	p.T200T	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Silent_p.T200T|KIF3A_ENST00000403231.1_Silent_p.T200T	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	200	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGCCTAGCGTCATAATTC	0.343																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(598-600)acG>acA		kinesin family member 3A							140.0	125.0	130.0					5																	132056317		2202	4300	6502	SO:0001819	synonymous_variant	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132056317C>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.600G>A	5.37:g.132056317C>T						KIF3A_ENST00000378735.1_Silent_p.T200T|KIF3A_ENST00000403231.1_Silent_p.T200T|AC004237.1_ENST00000431165.1_RNA	p.T200T	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	818	-		all_cancers(142;0.0751)|Breast(839;0.198)	200			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Silent	SNP	ENST00000378746.4	37	c.600G>A	CCDS34235.1																																																																																				0.343	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		24	47	0	0	0	1	0	24	47				
RAET1L	154064	broad.mit.edu	37	6	150342136	150342136	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150342136G>A	ENST00000367341.1	-	3	535	c.536C>T	c.(535-537)gCc>gTc	p.A179V	RAET1L_ENST00000286380.2_Missense_Mutation_p.A179V			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	179	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GAAGGACATGGCCACATCCTT	0.493																																						ENST00000367341.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(535-537)gCc>gTc		retinoic acid early transcript 1L							324.0	282.0	297.0					6																	150342136		2203	4300	6503	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150342136G>A	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.536C>T	6.37:g.150342136G>A	ENSP00000356310:p.Ala179Val					RAET1L_ENST00000286380.2_Missense_Mutation_p.A179V	p.A179V			Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	3	535	-		Ovarian(120;0.028)	179			MHC class I alpha-2 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.536C>T	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	7.420	0.636576	0.14386	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.60171	0.21;0.21	1.91	-3.81	0.04294	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.22126	0.0533	L	0.49571	1.57	0.09310	N	1	B	0.21821	0.061	B	0.26614	0.071	T	0.29458	-1.0011	9	0.72032	D	0.01	.	1.1032	0.01688	0.1418:0.3297:0.1965:0.332	.	179	Q5VY80	RET1L_HUMAN	V	179	ENSP00000356310:A179V;ENSP00000286380:A179V	ENSP00000286380:A179V	A	-	2	0	RAET1L	150383829	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.239000	0.02916	-1.802000	0.01244	0.491000	0.48974	GCC		0.493	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		5	107	0	0	0	1	0	5	107				
UBE2O	63893	broad.mit.edu	37	17	74387399	74387399	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74387399C>T	ENST00000319380.7	-	18	3568	c.3504G>A	c.(3502-3504)tcG>tcA	p.S1168S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1168					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGGGCTCTGGCGAGCTGCTGG	0.667																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(3502-3504)tcG>tcA		ubiquitin-conjugating enzyme E2O							25.0	28.0	27.0					17																	74387399		2203	4296	6499	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387399C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3504G>A	17.37:g.74387399C>T							p.S1168S	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			18	3568	-			1168					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3504G>A	CCDS32742.1																																																																																				0.667	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		17	22	0	0	0	1	0	17	22				
MUC16	94025	broad.mit.edu	37	19	9061060	9061060	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9061060C>T	ENST00000397910.4	-	3	26589	c.26386G>A	c.(26386-26388)Gca>Aca	p.A8796T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8798	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAGGATGCCCCAGAATGA	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26386-26388)Gca>Aca		mucin 16, cell surface associated							134.0	122.0	126.0					19																	9061060		2013	4180	6193	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061060C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26386G>A	19.37:g.9061060C>T	ENSP00000381008:p.Ala8796Thr						p.A8796T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26589	-			8798			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26386G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	10.27	1.303882	0.23736	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.28	1.21	0.21127	.	.	.	.	.	T	0.03263	0.0095	L	0.32530	0.975	.	.	.	P	0.40050	0.7	B	0.43445	0.42	T	0.33317	-0.9873	8	0.87932	D	0	.	4.9615	0.14068	0.0:0.8215:0.0:0.1785	.	8796	B5ME49	.	T	8796	ENSP00000381008:A8796T	ENSP00000381008:A8796T	A	-	1	0	MUC16	8922060	0.000000	0.05858	0.002000	0.10522	0.504000	0.33889	-3.243000	0.00543	0.526000	0.28541	0.298000	0.19748	GCA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	60	0	0	0	1	0	14	60				
SLC35E4	339665	broad.mit.edu	37	22	31033021	31033021	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31033021C>T	ENST00000343605.4	+	1	1383	c.584C>T	c.(583-585)gCc>gTc	p.A195V	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A195V|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A195V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	195	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTGCTCGCAGCCACCTGCCTC	0.667																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(583-585)gCc>gTc		solute carrier family 35, member E4							21.0	24.0	23.0					22																	31033021		2194	4268	6462	SO:0001583	missense	339665					integral to membrane		g.chr22:31033021C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.584C>T	22.37:g.31033021C>T	ENSP00000339626:p.Ala195Val					SLC35E4_ENST00000406566.1_Missense_Mutation_p.A195V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.A195V	p.A195V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1383	+			195			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.584C>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545578	0.65198	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T	0.73152	-0.72	5.16	5.16	0.70880	Domain of unknown function DUF250 (1);	0.053403	0.64402	D	0.000001	D	0.84275	0.5436	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.966	D	0.86340	0.1704	10	0.72032	D	0.01	-15.7455	17.4472	0.87581	0.0:1.0:0.0:0.0	.	195;195	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	V	195;195;195;171	ENSP00000339626:A195V	ENSP00000300385:A195V	A	+	2	0	SLC35E4	29363021	1.000000	0.71417	0.994000	0.49952	0.327000	0.28475	7.145000	0.77365	2.406000	0.81754	0.549000	0.68633	GCC		0.667	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		11	26	0	0	0	1	0	11	26				
STXBP5	134957	broad.mit.edu	37	6	147648402	147648402	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:147648402G>T	ENST00000321680.6	+	18	2070	c.2070G>T	c.(2068-2070)caG>caT	p.Q690H	STXBP5_ENST00000367480.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000367481.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000179882.6_Missense_Mutation_p.Q361H	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	690					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AATCTCGACAGCCTTCAGGAG	0.383																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2068-2070)caG>caT		syntaxin binding protein 5 (tomosyn)							73.0	71.0	71.0					6																	147648402		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648402G>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2070G>T	6.37:g.147648402G>T	ENSP00000321826:p.Gln690His					STXBP5_ENST00000367480.3_Missense_Mutation_p.Q690H|STXBP5_ENST00000321680.6_Missense_Mutation_p.Q690H|STXBP5_ENST00000179882.6_Missense_Mutation_p.Q361H	p.Q690H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2178	+		Ovarian(120;0.0164)	690					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2070G>T	CCDS47499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.651382|3.651382	0.67472|0.67472	.|.	.|.	ENSG00000164506|ENSG00000164506	ENST00000367475|ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	.|T;T;T;T;T	.|0.26373	.|1.74;1.74;1.74;1.74;1.74	6.07|6.07	-2.66|-2.66	0.06077|0.06077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33352|0.33352	0.0860|0.0860	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.997;0.997	.|D;D;D;D	.|0.91635	.|0.994;0.999;0.991;0.99	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.72032	.|D	.|0.01	.|.	11.7645|11.7645	0.51922|0.51922	0.5455:0.0:0.4545:0.0|0.5455:0.0:0.4545:0.0	.|.	.|690;31;690;361	.|Q5T5C0-2;Q5JRH1;Q5T5C0;B3KXX0	.|.;.;STXB5_HUMAN;.	S|H	32|37;690;690;690;361;22	.|ENSP00000356451:Q690H;ENSP00000321826:Q690H;ENSP00000356450:Q690H;ENSP00000179882:Q361H;ENSP00000376112:Q22H	.|ENSP00000179882:Q361H	A|Q	+|+	1|3	0|2	STXBP5|STXBP5	147690095|147690095	0.664000|0.664000	0.27457|0.27457	0.973000|0.973000	0.42090|0.42090	0.989000|0.989000	0.77384|0.77384	-0.062000|-0.062000	0.11674|0.11674	-0.674000|-0.674000	0.05253|0.05253	-0.324000|-0.324000	0.08512|0.08512	GCC|CAG		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			26	43	1	0	4.72057e-08	1	4.96844e-08	26	43				
GPR179	440435	broad.mit.edu	37	17	36483525	36483525	+	Missense_Mutation	SNP	C	C	T	rs200274687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36483525C>T	ENST00000342292.4	-	11	5947	c.5927G>A	c.(5926-5928)cGc>cAc	p.R1976H	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1976					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGTCAGGGCGCTGTCTGTC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18837	0.0		0.001	False		,,,				2504	0.0					ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5926-5928)cGc>cAc		G protein-coupled receptor 179		C	HIS/ARG	1,3977		0,1,1988	60.0	62.0	61.0		5927	0.7	0.0	17		61	2,8306		0,2,4152	yes	missense	GPR179	NM_001004334.2	29	0,3,6140	TT,TC,CC		0.0241,0.0251,0.0244	possibly-damaging	1976/2368	36483525	3,12283	1989	4154	6143	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483525C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5927G>A	17.37:g.36483525C>T	ENSP00000345060:p.Arg1976His					GPR179_ENST00000584976.1_Intron	p.R1976H	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	5947	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1976						Missense_Mutation	SNP	ENST00000342292.4	37	c.5927G>A	CCDS42308.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.31	1.898301	0.33535	2.51E-4	2.41E-4	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.86	0.703	0.18116	.	1.330700	0.04946	N	0.459414	T	0.25680	0.0625	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.33141	T	0.24	0.1039	8.0889	0.30788	0.0:0.5898:0.0:0.4102	.	1976	Q6PRD1	GP179_HUMAN	H	1976	ENSP00000345060:R1976H	ENSP00000345060:R1976H	R	-	2	0	GPR179	33737051	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.197000	0.17197	0.022000	0.15160	-0.379000	0.06801	CGC		0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			8	20	0	0	0	1	0	8	20				
PIK3R4	30849	broad.mit.edu	37	3	130463754	130463754	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130463754C>T	ENST00000356763.3	-	2	866	c.309G>A	c.(307-309)agG>agA	p.R103R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCACATACTGCCTAAAGAGCA	0.443																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(307-309)agG>agA		phosphoinositide-3-kinase, regulatory subunit 4							136.0	124.0	128.0					3																	130463754		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463754C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.309G>A	3.37:g.130463754C>T							p.R103R	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			2	866	-			103			Protein kinase.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.309G>A	CCDS3067.1																																																																																				0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		32	55	0	0	0	1	0	32	55				
STXBP5	134957	broad.mit.edu	37	6	147637445	147637445	+	Silent	SNP	C	C	A	rs142531466		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:147637445C>A	ENST00000321680.6	+	16	1704	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	STXBP5_ENST00000367480.3_Silent_p.P568P|STXBP5_ENST00000367481.3_Silent_p.P568P|STXBP5_ENST00000179882.6_Silent_p.P239P	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	568					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCCAACACCCGTGGGAGGGT	0.468																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1702-1704)ccC>ccA		syntaxin binding protein 5 (tomosyn)							85.0	84.0	85.0					6																	147637445		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147637445C>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1704C>A	6.37:g.147637445C>A						STXBP5_ENST00000367480.3_Silent_p.P568P|STXBP5_ENST00000321680.6_Silent_p.P568P|STXBP5_ENST00000179882.6_Silent_p.P239P	p.P568P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	16	1812	+		Ovarian(120;0.0164)	568					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.1704C>A	CCDS47499.1																																																																																				0.468	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			16	20	1	0	2.23348e-06	1	2.32236e-06	16	20				
IL1R2	7850	broad.mit.edu	37	2	102641024	102641024	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102641024T>G	ENST00000332549.3	+	7	1010	c.781T>G	c.(781-783)Ttt>Gtt	p.F261V	IL1R2_ENST00000441002.1_Missense_Mutation_p.F261V|IL1R2_ENST00000393414.2_Missense_Mutation_p.F261V|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	261	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GTGTAAGGTGTTTCTGGGAAC	0.612																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(781-783)Ttt>Gtt		interleukin 1 receptor, type II	Anakinra(DB00026)						80.0	80.0	80.0					2																	102641024		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641024T>G	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.781T>G	2.37:g.102641024T>G	ENSP00000330959:p.Phe261Val					IL1R2_ENST00000441002.1_Missense_Mutation_p.F261V|IL1R2_ENST00000393414.2_Missense_Mutation_p.F261V|IL1R2_ENST00000485335.1_3'UTR	p.F261V	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1010	+			261			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.781T>G	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487057	0.84854	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.13089	2.62;2.62;2.62	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.136617	0.52532	D	0.000067	T	0.32941	0.0846	M	0.69823	2.125	0.40753	D	0.982938	D	0.65815	0.995	P	0.60789	0.879	T	0.04635	-1.0937	10	0.49607	T	0.09	.	13.8038	0.63218	0.0:0.0:0.0:1.0	.	261	P27930	IL1R2_HUMAN	V	261	ENSP00000330959:F261V;ENSP00000377066:F261V;ENSP00000414611:F261V	ENSP00000330959:F261V	F	+	1	0	IL1R2	102007456	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.529000	0.60588	2.248000	0.74166	0.533000	0.62120	TTT		0.612	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		18	27	0	0	0	1	0	18	27				
TULP4	56995	broad.mit.edu	37	6	158870174	158870174	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158870174C>T	ENST00000367097.3	+	4	2047	c.690C>T	c.(688-690)agC>agT	p.S230S	TULP4_ENST00000367094.2_Silent_p.S230S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	230					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCAGCGAGAGCGACACGGACT	0.582																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(688-690)agC>agT		tubby like protein 4							177.0	141.0	153.0					6																	158870174		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870174C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.690C>T	6.37:g.158870174C>T						TULP4_ENST00000367094.2_Silent_p.S230S	p.S230S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2047	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	230					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.690C>T	CCDS34561.1																																																																																				0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		18	27	0	0	0	1	0	18	27				
FEM1C	56929	broad.mit.edu	37	5	114861010	114861010	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114861010A>G	ENST00000274457.3	-	3	1410	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	283					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GTTTACTAATAATATTAGTCC	0.393																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(847-849)atT>atC		fem-1 homolog c (C. elegans)							157.0	157.0	157.0					5																	114861010		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114861010A>G		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.849T>C	5.37:g.114861010A>G							p.I283I	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1410	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	283					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.849T>C	CCDS4118.1																																																																																				0.393	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		41	48	0	0	0	1	0	41	48				
ATP2B3	492	broad.mit.edu	37	X	152807870	152807870	+	Missense_Mutation	SNP	C	C	T	rs373144811		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152807870C>T	ENST00000349466.2	+	5	1080	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R252C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	252					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACCACGTGCGCAAGTCAGC	0.657																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(754-756)Cgc>Tgc		ATPase, Ca++ transporting, plasma membrane 3		C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	93.0	64.0	74.0		754,754	5.4	1.0	X		74	1,6727		0,1,2427,1872	no	missense,missense	ATP2B3	NM_001001344.2,NM_021949.3	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	252/1221,252/1174	152807870	1,10562	2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807870C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.754C>T	X.37:g.152807870C>T	ENSP00000343886:p.Arg252Cys					ATP2B3_ENST00000370181.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R252C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R252C|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R252C|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R252C	p.R252C			Q16720	AT2B3_HUMAN			5	1080	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		252					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.754C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755304	0.69648	0.0	1.49E-4	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.184234	0.47852	D	0.000210	D	0.88644	0.6492	L	0.57130	1.785	0.49582	D	0.999803	P;B	0.43314	0.803;0.432	B;B	0.37015	0.239;0.153	D	0.89963	0.4088	10	0.62326	D	0.03	-1.2872	16.9818	0.86329	0.0:1.0:0.0:0.0	.	252;252	Q16720;Q16720-2	AT2B3_HUMAN;.	C	252	ENSP00000359205:R252C;ENSP00000343886:R252C;ENSP00000377425:R252C;ENSP00000352062:R252C;ENSP00000263519:R252C;ENSP00000359200:R252C	ENSP00000263519:R252C	R	+	1	0	ATP2B3	152461064	0.001000	0.12720	1.000000	0.80357	0.661000	0.39034	0.570000	0.23653	2.273000	0.75805	0.513000	0.50165	CGC		0.657	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	3	0	0	0	1	0	7	3				
SALL2	6297	broad.mit.edu	37	14	21993740	21993740	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21993740G>A	ENST00000327430.3	-	2	416	c.122C>T	c.(121-123)gCa>gTa	p.A41V	SALL2_ENST00000450879.2_Missense_Mutation_p.A39V|SALL2_ENST00000538754.1_Missense_Mutation_p.A39V|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Missense_Mutation_p.A41V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGTGAATTGTGCGCAGCACTT	0.557																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(121-123)gCa>gTa		spalt-like transcription factor 2							106.0	89.0	95.0					14																	21993740		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993740G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.122C>T	14.37:g.21993740G>A	ENSP00000333537:p.Ala41Val					SALL2_ENST00000450879.2_Missense_Mutation_p.A39V|SALL2_ENST00000317492.5_Missense_Mutation_p.A41V|SALL2_ENST00000538754.1_Missense_Mutation_p.A39V	p.A41V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	416	-	all_cancers(95;0.000662)		41					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.122C>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992052|4.992052	0.93167|0.93167	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|.	0.55588|.	1.26;0.51;0.69;2.51;0.71|.	4.11|4.11	4.11|4.11	0.48088|0.48088	.|.	0.000000|.	0.38663|.	N|.	0.001602|.	T|T	0.70237|0.70237	0.3201|0.3201	M|M	0.78916|0.78916	2.43|2.43	0.33426|0.33426	D|D	0.580528|0.580528	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0;0.993|.	D;D;D;D;D;D|.	0.91635|.	0.994;0.994;0.992;0.994;0.999;0.978|.	T|T	0.79286|0.79286	-0.1866|-0.1866	10|5	0.87932|.	D|.	0|.	-25.1033|-25.1033	13.9407|13.9407	0.64052|0.64052	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39;39;39;41;39;41|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	V|Y	41;41;39;39;41;39|35	ENSP00000333537:A41V;ENSP00000320536:A41V;ENSP00000445916:A39V;ENSP00000396773:A39V;ENSP00000438493:A39V|.	ENSP00000320536:A41V|.	A|H	-|-	2|1	0|0	SALL2|SALL2	21063580|21063580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.428000|7.428000	0.80296|0.80296	2.156000|2.156000	0.67533|0.67533	0.558000|0.558000	0.71614|0.71614	GCA|CAC		0.557	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		20	36	0	0	0	1	0	20	36				
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	rs199507095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCAGCACAGCGGAAGCTACAG	0.517																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1243-1245)Cgc>Tgc		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133.0	111.0	119.0					1																	169578832		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578832G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1243C>T	1.37:g.169578832G>A	ENSP00000263686:p.Arg415Cys					SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron	p.R415C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1280	-	all_hematologic(923;0.208)		415			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1243C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276591|2.276591	0.40294|0.40294	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.74|5.74	3.86|3.86	0.44501|0.44501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|1.827990	.|0.02349	.|N	.|0.075696	T|T	0.71230|0.71230	0.3315|0.3315	M|M	0.83774|0.83774	2.66|2.66	0.44500|0.44500	D|D	0.997442|0.997442	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;P;P	.|0.63192	.|0.912;0.901;0.799	T|T	0.56890|0.56890	-0.7904|-0.7904	5|10	.|0.44086	.|T	.|0.13	-0.2348|-0.2348	8.3896|8.3896	0.32520|0.32520	0.0784:0.0:0.7683:0.1533|0.0784:0.0:0.7683:0.1533	.|.	.|415;415;415	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	L|C	352|415;414;353;415;415;353;353;353;353;353;338	.|ENSP00000263686:R415C;ENSP00000356767:R353C;ENSP00000356768:R353C;ENSP00000356766:R353C;ENSP00000356762:R353C;ENSP00000356760:R353C	.|ENSP00000263686:R415C	P|R	-|-	2|1	0|0	SELP|SELP	167845456|167845456	0.000000|0.000000	0.05858|0.05858	0.543000|0.543000	0.28128|0.28128	0.023000|0.023000	0.10783|0.10783	-0.246000|-0.246000	0.08878|0.08878	0.764000|0.764000	0.33197|0.33197	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.517	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		13	26	0	0	0	1	0	13	26				
KIAA0753	9851	broad.mit.edu	37	17	6526296	6526296	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6526296C>T	ENST00000361413.3	-	6	1368	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KIAA0753_ENST00000572370.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000589033.1_5'Flank	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	337						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AATAAGGCTGCCCAGTTCCTT	0.507																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1009-1011)gGc>gAc		KIAA0753							84.0	82.0	83.0					17																	6526296		1934	4143	6077	SO:0001583	missense	9851					centrosome		g.chr17:6526296C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1010G>A	17.37:g.6526296C>T	ENSP00000355250:p.Gly337Asp					KIAA0753_ENST00000572370.1_Missense_Mutation_p.G38D|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G38D	p.G337D	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	6	1368	-			337					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1010G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941327	0.92526	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.85629	-2.01;-2.01	5.7	5.7	0.88788	.	0.051599	0.85682	D	0.000000	D	0.92731	0.7689	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92927	0.6360	10	0.72032	D	0.01	-18.6815	17.7581	0.88456	0.0:1.0:0.0:0.0	.	337	Q2KHM9	K0753_HUMAN	D	337;38	ENSP00000355250:G337D;ENSP00000444634:G38D	ENSP00000355250:G337D	G	-	2	0	KIAA0753	6467020	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.367000	0.73099	2.878000	0.98634	0.650000	0.86243	GGC		0.507	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		21	27	0	0	0	1	0	21	27				
GLTSCR1L	23506	broad.mit.edu	37	6	42832599	42832599	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42832599C>T	ENST00000314073.5	+	13	2831	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	GLTSCR1L_ENST00000394168.1_Silent_p.I885I			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	885																	CTAATCACATCGTGGTCTCTG	0.498																																						ENST00000314073.5																			0											c.(2653-2655)atC>atT		GLTSCR1-like							114.0	91.0	99.0					6																	42832599		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832599C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2655C>T	6.37:g.42832599C>T						GLTSCR1L_ENST00000394168.1_Silent_p.I885I	p.I885I							13	2831	+								A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2655C>T	CCDS34451.1																																																																																				0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		7	22	0	0	0	1	0	7	22				
CDH8	1006	broad.mit.edu	37	16	61851610	61851610	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:61851610G>T	ENST00000577390.1	-	7	2004	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	CDH8_ENST00000584337.1_Silent_p.S350S|CDH8_ENST00000299345.6_Silent_p.S350S|CDH8_ENST00000577730.1_Silent_p.S350S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	350	Cadherin 3. {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)			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)		TTAGCGTATAGGATTTTTTGG	0.443																																						ENST00000577390.1																			0				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						c.(1048-1050)tcC>tcA		cadherin 8, type 2							68.0	53.0	58.0					16																	61851610		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851610G>T	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.1050C>A	16.37:g.61851610G>T						CDH8_ENST00000584337.1_Silent_p.S350S|CDH8_ENST00000299345.6_Silent_p.S350S|CDH8_ENST00000577730.1_Silent_p.S350S	p.S350S	NM_001796.4	NP_001787.2	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)	7	2004	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	350			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1050C>A	CCDS10802.1																																																																																				0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		25	35	1	0	3.01185e-09	1	3.19065e-09	25	35				
CCDC8	83987	broad.mit.edu	37	19	46915402	46915402	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46915402G>A	ENST00000307522.3	-	1	1439	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(664-666)ggC>ggT		coiled-coil domain containing 8							13.0	16.0	15.0					19																	46915402		2196	4279	6475	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915402G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.666C>T	19.37:g.46915402G>A							p.G222G	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1439	-			222					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.666C>T	CCDS12685.1																																																																																				0.701	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	4	0	0	0	1	0	8	4				
DSCAML1	57453	broad.mit.edu	37	11	117374666	117374666	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117374666C>T	ENST00000321322.6	-	11	2434	c.2433G>A	c.(2431-2433)tcG>tcA	p.S811S	DSCAML1_ENST00000527706.1_Silent_p.S541S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	751	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGATCAGCAGCGAGCTGTTGG	0.622																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2431-2433)tcG>tcA		Down syndrome cell adhesion molecule like 1							109.0	93.0	98.0					11																	117374666		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374666C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2433G>A	11.37:g.117374666C>T						DSCAML1_ENST00000527706.1_Silent_p.S541S	p.S811S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2434	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	751			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2433G>A	CCDS8384.1																																																																																				0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		23	24	0	0	0	1	0	23	24				
DNAH2	146754	broad.mit.edu	37	17	7644157	7644157	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7644157G>A	ENST00000572933.1	+	11	2996	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	DNAH2_ENST00000389173.2_Silent_p.A512A|DNAH2_ENST00000570791.1_Silent_p.A594A|DNAH2_ENST00000082259.3_Silent_p.A594A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	512	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAAGAAGGCGGTGGATCTCT	0.582																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1534-1536)gcG>gcA		dynein, axonemal, heavy chain 2							121.0	112.0	115.0					17																	7644157		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644157G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1536G>A	17.37:g.7644157G>A						DNAH2_ENST00000082259.3_Silent_p.A594A|DNAH2_ENST00000570791.1_Silent_p.A594A|DNAH2_ENST00000389173.2_Silent_p.A512A	p.A512A			Q9P225	DYH2_HUMAN			11	2996	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	512			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1536G>A	CCDS32551.1																																																																																				0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		37	49	0	0	0	1	0	37	49				
SDR42E1	93517	broad.mit.edu	37	16	82033231	82033231	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:82033231C>T	ENST00000328945.5	-	3	794	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	223					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TCCACGTGGACAAACTCAACC	0.542																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(667-669)Gtc>Atc		short chain dehydrogenase/reductase family 42E, member 1							106.0	109.0	108.0					16																	82033231		1904	4113	6017	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033231C>T	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.667G>A	16.37:g.82033231C>T	ENSP00000332407:p.Val223Ile						p.V223I	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	794	-			223					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.667G>A	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517709	0.85495	.	.	ENSG00000184860	ENST00000328945	D	0.88124	-2.34	5.58	4.63	0.57726	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83741	0.5320	L	0.42632	1.34	0.58432	D	0.999992	P	0.41597	0.756	B	0.42882	0.401	T	0.81547	-0.0883	10	0.30854	T	0.27	-26.8995	13.4075	0.60922	0.0:0.925:0.0:0.075	.	223	Q8WUS8	D42E1_HUMAN	I	223	ENSP00000332407:V223I	ENSP00000332407:V223I	V	-	1	0	SDR42E1	80590732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	1.345000	0.45676	0.655000	0.94253	GTC		0.542	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		34	110	0	0	0	1	0	34	110				
SH2D3A	10045	broad.mit.edu	37	19	6760867	6760867	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6760867C>T	ENST00000245908.6	-	3	470	c.201G>A	c.(199-201)ctG>ctA	p.L67L	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	67	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCCGGGGACGCAGGGCCACAC	0.642																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(199-201)ctG>ctA		SH2 domain containing 3A							49.0	49.0	49.0					19																	6760867		2203	4299	6502	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760867C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.201G>A	19.37:g.6760867C>T						SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	p.L67L	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	470	-			67			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.201G>A	CCDS12173.1																																																																																				0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	46	0	0	0	1	0	7	46				
DIRAS3	9077	broad.mit.edu	37	1	68512685	68512685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:68512685C>T	ENST00000370981.1	-	4	932	c.296G>A	c.(295-297)cGc>cAc	p.R99H	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99H			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	99					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R99H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587																																						ENST00000370981.1																			1	Substitution - Missense(1)	p.R99H(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(295-297)cGc>cAc		DIRAS family, GTP-binding RAS-like 3							112.0	118.0	116.0					1																	68512685		2203	4300	6503	SO:0001583	missense	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512685C>T	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.296G>A	1.37:g.68512685C>T	ENSP00000360020:p.Arg99His					GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R99H	p.R99H			O95661	DIRA3_HUMAN			4	932	-			99					B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	c.296G>A	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424581	0.43020	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.77877	-1.13;-1.13	0.427	0.427	0.16489	Small GTP-binding protein domain (1);	.	.	.	.	T	0.70579	0.3240	L	0.45352	1.415	0.26419	N	0.976137	D	0.71674	0.998	D	0.63488	0.915	T	0.59506	-0.7442	8	0.72032	D	0.01	.	.	.	.	.	99	O95661	DIRA3_HUMAN	H	99	ENSP00000360020:R99H;ENSP00000378627:R99H	ENSP00000360020:R99H	R	-	2	0	DIRAS3	68285273	0.992000	0.36948	0.002000	0.10522	0.014000	0.08584	2.790000	0.47821	0.458000	0.26988	0.467000	0.42956	CGC		0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		35	57	0	0	0	1	0	35	57				
ADAT3	113179	broad.mit.edu	37	19	1913103	1913103	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1913103C>T	ENST00000602400.1	+	2	1237	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.R353C|SCAMP4_ENST00000414057.2_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	337					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTGTTCCGCGGGGTGCT	0.751																																						ENST00000329478.2																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(1057-1059)Cgc>Tgc		adenosine deaminase, tRNA-specific 3							8.0	9.0	9.0					19																	1913103		2156	4195	6351	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1913103C>T	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.1009C>T	19.37:g.1913103C>T	ENSP00000473571:p.Arg337Cys					ADAT3_ENST00000602400.1_Missense_Mutation_p.R337C|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron	p.R353C			Q96EY9	ADAT3_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)	2	1277	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	337						Missense_Mutation	SNP	ENST00000602400.1	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	c	15.58	2.875812	0.51695	.	.	ENSG00000213638	ENST00000329478	.	.	.	4.94	2.73	0.32206	Cytidine deaminase-like (1);	0.179078	0.44902	D	0.000402	T	0.51193	0.1660	M	0.73430	2.235	0.47547	D	0.999451	B	0.25486	0.127	B	0.17098	0.017	T	0.55592	-0.8117	9	0.87932	D	0	-27.7693	5.1555	0.15032	0.3428:0.548:0.0:0.1093	.	337	Q96EY9	ADAT3_HUMAN	C	337	.	ENSP00000332448:R337C	R	+	1	0	ADAT3	1864103	0.041000	0.20044	0.959000	0.39883	0.801000	0.45260	0.076000	0.14712	1.080000	0.41073	0.549000	0.68633	CGC		0.751	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		3	7	0	0	0	1	0	3	7				
RYR3	6263	broad.mit.edu	37	15	34014941	34014941	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34014941C>T	ENST00000389232.4	+	44	6715	c.6645C>T	c.(6643-6645)agC>agT	p.S2215S	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Silent_p.S2215S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2215	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACGCCAGCGTTGTGGTCA	0.557																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6643-6645)agC>agT		ryanodine receptor 3							96.0	104.0	101.0					15																	34014941		2009	4197	6206	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34014941C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6645C>T	15.37:g.34014941C>T						RYR3_ENST00000415757.3_Silent_p.S2215S	p.S2215S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6715	+		all_lung(180;7.18e-09)	2215			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6645C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	50	0	0	0	1	0	36	50				
WDR77	79084	broad.mit.edu	37	1	111983960	111983960	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111983960C>T	ENST00000235090.5	-	10	1127	c.921G>A	c.(919-921)ccG>ccA	p.P307P	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Silent_p.P243P|RP11-552M11.4_ENST00000416099.1_RNA	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	307					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGATTGAGCGGGGACCAAG	0.532																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(919-921)ccG>ccA		WD repeat domain 77							109.0	101.0	103.0					1																	111983960		2203	4300	6503	SO:0001819	synonymous_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983960C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.921G>A	1.37:g.111983960C>T						WDR77_ENST00000411751.2_Silent_p.P243P|WDR77_ENST00000497278.1_5'UTR	p.P307P	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1127	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	307					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Silent	SNP	ENST00000235090.5	37	c.921G>A	CCDS835.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859031	0.32884	.	.	ENSG00000116455	ENST00000449340	.	.	.	5.91	-9.66	0.00534	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.39616	D	0.96996	.	.	.	.	.	.	T	0.50250	-0.8850	4	.	.	.	-6.9995	6.6222	0.22810	0.074:0.1165:0.2361:0.5735	.	.	.	.	H	256	.	.	R	-	2	0	WDR77	111785483	0.000000	0.05858	0.897000	0.35233	0.995000	0.86356	-2.879000	0.00716	-1.061000	0.03185	-0.150000	0.13652	CGC		0.532	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		18	26	0	0	0	1	0	18	26				
CNTROB	116840	broad.mit.edu	37	17	7846781	7846781	+	Missense_Mutation	SNP	C	C	T	rs370173403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7846781C>T	ENST00000563694.1	+	10	2309	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	CNTROB_ENST00000565740.1_Missense_Mutation_p.R462W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R462W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R462W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	462	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGTGACAGAGCGGCTGGCGCA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17482	0.0		0.0	False		,,,				2504	0.0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1384-1386)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein		C	TRP/ARG,TRP/ARG	0,4398		0,0,2199	39.0	35.0	37.0		1384,1384	3.8	1.0	17		37	1,8593		0,1,4296	no	missense,missense	CNTROB	NM_001037144.5,NM_053051.3	101,101	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	462/926,462/904	7846781	1,12991	2199	4297	6496	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7846781C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1384C>T	17.37:g.7846781C>T	ENSP00000456335:p.Arg462Trp					CNTROB_ENST00000563694.1_Missense_Mutation_p.R462W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R462W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R462W	p.R462W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			10	2309	+		Prostate(122;0.173)	462			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1384C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867668	0.72065	0.0	1.16E-4	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.45668	0.89;0.89	4.76	3.79	0.43588	.	0.150817	0.31221	N	0.008021	T	0.48259	0.1490	N	0.24115	0.695	0.33958	D	0.645315	D;D;D;D	0.89917	1.0;0.997;0.997;1.0	D;P;P;D	0.83275	0.995;0.742;0.742;0.996	T	0.62751	-0.6788	10	0.87932	D	0	-17.4605	11.4455	0.50120	0.3265:0.6735:0.0:0.0	.	462;462;462;462	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	462	ENSP00000369614:R462W;ENSP00000369605:R462W	ENSP00000369605:R462W	R	+	1	2	CNTROB	7787506	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.157000	0.31724	1.224000	0.43551	0.561000	0.74099	CGG		0.627	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		16	11	0	0	0	1	0	16	11				
WDR18	57418	broad.mit.edu	37	19	989795	989795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:989795C>T	ENST00000251289.5	+	3	378	c.355C>T	c.(355-357)Cga>Tga	p.R119*	WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Nonsense_Mutation_p.R119*	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	119					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCTGAGTCGACACTACCA	0.622																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(355-357)Cga>Tga		WD repeat domain 18							93.0	85.0	88.0					19																	989795		2202	4300	6502	SO:0001587	stop_gained	57418							g.chr19:989795C>T		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.355C>T	19.37:g.989795C>T	ENSP00000251289:p.Arg119*					WDR18_ENST00000591997.1_3'UTR|WDR18_ENST00000587001.2_Nonsense_Mutation_p.R119*	p.R119*	NM_024100.3	NP_077005.2	Q9BV38	WDR18_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)	3	378	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	119					O60390|Q9BWR2	Nonsense_Mutation	SNP	ENST00000251289.5	37	c.355C>T	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168545	0.57584	.	.	ENSG00000065268	ENST00000251289	.	.	.	4.03	4.03	0.46877	.	0.119681	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	10.7028	0.45937	0.1908:0.8092:0.0:0.0	.	.	.	.	X	119	.	ENSP00000251289:R119X	R	+	1	2	WDR18	940795	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.836000	0.62789	2.087000	0.62958	0.563000	0.77884	CGA		0.622	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			33	45	0	0	0	1	0	33	45				
PCP2	126006	broad.mit.edu	37	19	7697340	7697340	+	Missense_Mutation	SNP	C	C	T	rs572670156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7697340C>T	ENST00000311069.5	-	3	520	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PCP2_ENST00000598935.1_Missense_Mutation_p.R61H|CTD-3214H19.6_ENST00000601797.1_RNA|XAB2_ENST00000534844.1_5'Flank|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	77	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						GTCATCCATGCGGCGGCCCTG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17309	0.001		0.0	False		,,,				2504	0.0					ENST00000311069.5																			0				endometrium(1)|urinary_tract(1)	2						c.(229-231)cGc>cAc		Purkinje cell protein 2							85.0	84.0	84.0					19																	7697340		2203	4300	6503	SO:0001583	missense	126006				signal transduction		GTPase activator activity	g.chr19:7697340C>T	BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.230G>A	19.37:g.7697340C>T	ENSP00000310585:p.Arg77His					CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Missense_Mutation_p.R61H	p.R77H	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN			3	520	-			77			GoLoco 2.		M0R2R7|Q3KRG7	Missense_Mutation	SNP	ENST00000311069.5	37	c.230G>A	CCDS32893.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501174	0.85176	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.9	3.79	0.43588	GoLoco motif (3);	0.000000	0.56097	D	0.000030	T	0.77465	0.4134	M	0.81341	2.54	0.40346	D	0.979088	D	0.89917	1.0	D	0.79784	0.993	T	0.81055	-0.1106	9	0.87932	D	0	-21.7923	11.1955	0.48711	0.1837:0.8163:0.0:0.0	.	77	Q8IVA1	PCP2_HUMAN	H	77	.	ENSP00000310585:R77H	R	-	2	0	PCP2	7603340	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.390000	0.52523	2.237000	0.73441	0.549000	0.68633	CGC		0.637	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461026.2	XM_058956		26	49	0	0	0	1	0	26	49				
ADAR	103	broad.mit.edu	37	1	154557442	154557442	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154557442C>T	ENST00000368474.4	-	15	3720	c.3521G>A	c.(3520-3522)cGc>cAc	p.R1174H	ADAR_ENST00000368471.3_Missense_Mutation_p.R879H|ADAR_ENST00000292205.5_Missense_Mutation_p.R1217H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1174	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGATCCCTGCGGTAACGGAA	0.473																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3520-3522)cGc>cAc		adenosine deaminase, RNA-specific							99.0	96.0	97.0					1																	154557442		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557442C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3521G>A	1.37:g.154557442C>T	ENSP00000357459:p.Arg1174His					ADAR_ENST00000292205.5_Missense_Mutation_p.R1217H|ADAR_ENST00000368471.3_Missense_Mutation_p.R879H	p.R1174H	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	15	3720	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1174			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3521G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912569	0.92178	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.76	4.76	0.60689	Adenosine deaminase/editase (3);	0.119916	0.56097	D	0.000030	D	0.96027	0.8706	M	0.71581	2.175	0.58432	D	0.999999	P;P;D	0.89917	0.951;0.951;1.0	P;P;D	0.87578	0.596;0.596;0.998	D	0.95915	0.8926	10	0.62326	D	0.03	-20.4579	18.3245	0.90248	0.0:1.0:0.0:0.0	.	1129;1148;1174	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	H	1217;1174;879;1143	ENSP00000292205:R1217H;ENSP00000357459:R1174H;ENSP00000357456:R879H;ENSP00000431794:R1143H	ENSP00000292205:R1217H	R	-	2	0	ADAR	152824066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.293000	0.65680	2.635000	0.89317	0.655000	0.94253	CGC		0.473	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		35	70	0	0	0	1	0	35	70				
DCSTAMP	81501	broad.mit.edu	37	8	105361634	105361634	+	Missense_Mutation	SNP	C	C	T	rs146710492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105361634C>T	ENST00000297581.2	+	2	903	c.854C>T	c.(853-855)cCg>cTg	p.P285L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	285					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											ACTTTCTGGCCGACTCCTAAA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		19823	0.0		0.001	False		,,,				2504	0.001					ENST00000297581.2																			0											c.(853-855)cCg>cTg		dendrocyte expressed seven transmembrane protein		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	100.0	106.0	104.0		854	-0.8	0.0	8	dbSNP_134	104	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TM7SF4	NM_030788.2	98	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	285/471	105361634	9,12997	2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361634C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.854C>T	8.37:g.105361634C>T	ENSP00000297581:p.Pro285Leu					DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	p.P285L	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	903	+			285					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.854C>T	CCDS6301.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.003	-2.433178	0.00182	2.27E-4	9.3E-4	ENSG00000164935	ENST00000297581	T	0.22945	1.93	5.5	-0.751	0.11076	Dendritic cell-specific transmembrane protein-like (1);	0.554792	0.19116	N	0.122317	T	0.06690	0.0171	N	0.01640	-0.785	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36866	-0.9730	9	.	.	.	1.0087	5.489	0.16765	0.1342:0.3851:0.0:0.4806	.	285	Q9H295	TM7S4_HUMAN	L	285	ENSP00000297581:P285L	.	P	+	2	0	TM7SF4	105430810	0.152000	0.22762	0.002000	0.10522	0.086000	0.17979	0.576000	0.23744	-0.130000	0.11599	-0.378000	0.06908	CCG		0.478	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		40	53	0	0	0	1	0	40	53				
ADAMTS9	56999	broad.mit.edu	37	3	64532491	64532491	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64532491G>A	ENST00000498707.1	-	32	5349	c.5007C>T	c.(5005-5007)ccC>ccT	p.P1669P	ADAMTS9_ENST00000295903.4_Silent_p.P1641P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1669	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGGTAACAGGGGTGAACAC	0.547																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5005-5007)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							117.0	115.0	116.0					3																	64532491		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64532491G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5007C>T	3.37:g.64532491G>A						ADAMTS9_ENST00000295903.4_Silent_p.P1641P	p.P1669P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	32	5349	-		Lung NSC(201;0.00682)	1669			TSP type-1 14.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.5007C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074146	0.20227	.	.	ENSG00000163638	ENST00000481060	T	0.60672	0.17	5.36	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	7	0.32370	T	0.25	.	6.3946	0.21605	0.0722:0.1393:0.6563:0.1323	.	.	.	.	L	725	ENSP00000417521:P725L	ENSP00000417521:P725L	P	-	2	0	ADAMTS9	64507531	0.997000	0.39634	1.000000	0.80357	0.927000	0.56198	0.263000	0.18478	0.632000	0.30432	0.655000	0.94253	CCT		0.547	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			23	30	0	0	0	1	0	23	30				
TYK2	7297	broad.mit.edu	37	19	10468707	10468707	+	Silent	SNP	G	G	A	rs558083906	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10468707G>A	ENST00000525621.1	-	16	2764	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	TYK2_ENST00000524462.1_Silent_p.G576G|TYK2_ENST00000529370.1_Silent_p.G761G|TYK2_ENST00000264818.6_Silent_p.G761G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	761	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGGCCCACGCCAGGATCAC	0.642													g|||	2	0.000399361	0.0	0.0	5008	,	,		15731	0.0		0.0	False		,,,				2504	0.002					ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2281-2283)ggC>ggT		tyrosine kinase 2							30.0	27.0	28.0					19																	10468707		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10468707G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2283C>T	19.37:g.10468707G>A						TYK2_ENST00000264818.6_Silent_p.G761G|TYK2_ENST00000529370.1_Silent_p.G761G|TYK2_ENST00000524462.1_Silent_p.G576G	p.G761G	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		16	2764	-			761			Protein kinase 1.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.2283C>T	CCDS12236.1																																																																																				0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			7	13	0	0	0	1	0	7	13				
ZNF30	90075	broad.mit.edu	37	19	35435549	35435549	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35435549G>A	ENST00000601142.1	+	5	1916	c.1679G>A	c.(1678-1680)aGt>aAt	p.S560N	ZNF30_ENST00000439785.1_Missense_Mutation_p.S561N|ZNF30_ENST00000303586.7_Missense_Mutation_p.S561N|ZNF30_ENST00000426813.2_Missense_Mutation_p.S479N|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GGACATCAGAGTGTTCACACT	0.413																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1681-1683)aGt>aAt		zinc finger protein 30							55.0	63.0	60.0					19																	35435549		2194	4298	6492	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435549G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1679G>A	19.37:g.35435549G>A	ENSP00000469954:p.Ser560Asn					ZNF30_ENST00000601142.1_Missense_Mutation_p.S560N|ZNF30_ENST00000426813.2_Missense_Mutation_p.S479N|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.S561N	p.S561N	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	2126	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		560					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1682G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	13.87	2.365712	0.41902	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.18657	2.2;2.2	2.05	0.968	0.19680	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	L	0.33792	1.035	0.20703	N	0.999868	B;B	0.21309	0.054;0.001	B;B	0.19946	0.027;0.005	T	0.26052	-1.0114	9	0.62326	D	0.03	.	6.1225	0.20161	0.1747:0.0:0.8253:0.0	.	561;560	P17039-2;P17039	.;ZNF30_HUMAN	N	561;560;479;269	ENSP00000403441:S561N;ENSP00000416457:S479N	ENSP00000303889:S560N	S	+	2	0	ZNF30	40127389	0.015000	0.18098	0.227000	0.23927	0.727000	0.41649	1.803000	0.38863	0.193000	0.20303	0.508000	0.49915	AGT		0.413	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		13	15	0	0	0	1	0	13	15				
PLEKHA8	84725	broad.mit.edu	37	7	30094928	30094928	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30094928G>A	ENST00000449726.1	+	9	1359	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.A337T|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.A337T|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.A337T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	337	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGCATTCTTGGCATCATGTTA	0.393																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1009-1011)Gca>Aca		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							223.0	185.0	198.0					7																	30094928		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094928G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1009G>A	7.37:g.30094928G>A	ENSP00000397947:p.Ala337Thr					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.A337T|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.A337T|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.A337T	p.A337T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			9	1359	+			337					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1009G>A	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428043	0.62844	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.93	5.93	0.95920	Glycolipid transfer protein domain (3);	0.113936	0.64402	D	0.000017	T	0.48187	0.1486	L	0.34521	1.04	0.41623	D	0.988977	B;B;P;B	0.38504	0.145;0.175;0.634;0.101	B;B;B;B	0.32805	0.074;0.122;0.153;0.122	T	0.50074	-0.8870	9	0.46703	T	0.11	-48.4614	18.9133	0.92494	0.0:0.0:1.0:0.0	.	337;337;337;337	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	T	337;337;337;337;363	.	ENSP00000258679:A337T	A	+	1	0	PLEKHA8	30061453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.814000	0.96858	0.591000	0.81541	GCA		0.393	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		26	72	0	0	0	1	0	26	72				
MAP4K5	11183	broad.mit.edu	37	14	50904244	50904244	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50904244G>A	ENST00000013125.4	-	25	2150	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	611	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGTTGTTAAAGCGAATTTTCT	0.343																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1831-1833)gCt>gTt		mitogen-activated protein kinase kinase kinase kinase 5							81.0	70.0	74.0					14																	50904244		1846	4108	5954	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50904244G>A	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1832C>T	14.37:g.50904244G>A	ENSP00000013125:p.Ala611Val						p.A611V	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			25	2150	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		611			CNH.		Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1832C>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.499200	0.85069	.	.	ENSG00000012983	ENST00000013125	T	0.75367	-0.93	4.83	4.83	0.62350	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.63428	1.95	0.80722	D	1	P;D	0.76494	0.688;0.999	B;D	0.83275	0.393;0.996	D	0.85623	0.1265	10	0.52906	T	0.07	.	17.91	0.88931	0.0:0.0:1.0:0.0	.	611;611	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	611	ENSP00000013125:A611V	ENSP00000013125:A611V	A	-	2	0	MAP4K5	49973994	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.580000	0.82523	2.233000	0.73108	0.460000	0.39030	GCT		0.343	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		4	6	0	0	0	1	0	4	6				
REST	5978	broad.mit.edu	37	4	57796717	57796717	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57796717G>T	ENST00000309042.7	+	4	2007	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	565	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACAGCAAAGTGGAGGAGAA	0.343																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1693-1695)Gtg>Ttg		RE1-silencing transcription factor							20.0	22.0	21.0					4																	57796717		2179	4293	6472	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796717G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1693G>T	4.37:g.57796717G>T	ENSP00000311816:p.Val565Leu						p.V565L	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	2007	+	Glioma(25;0.08)|all_neural(26;0.181)		565			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1693G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021463	0.19433	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.46063	0.88	4.92	2.21	0.28008	.	0.307883	0.23424	N	0.048327	T	0.27933	0.0688	L	0.60455	1.87	0.09310	N	1	B;B	0.25955	0.138;0.011	B;B	0.21151	0.033;0.003	T	0.15065	-1.0450	10	0.10636	T	0.68	-4.1968	1.7634	0.02997	0.2499:0.1359:0.475:0.1393	.	542;565	F8WAN5;Q13127	.;REST_HUMAN	L	565;542	ENSP00000311816:V565L	ENSP00000311816:V565L	V	+	1	0	REST	57491474	0.002000	0.14202	0.854000	0.33618	0.761000	0.43186	1.006000	0.29847	0.497000	0.27926	0.561000	0.74099	GTG		0.343	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		13	13	1	0	1.05317e-09	1	1.12079e-09	13	13				
VLDLR	7436	broad.mit.edu	37	9	2639945	2639945	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2639945T>C	ENST00000382100.3	+	3	645	c.289T>C	c.(289-291)Tgc>Cgc	p.C97R	VLDLR_ENST00000382099.2_Missense_Mutation_p.C97R|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	97	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGATCCTGACTGCGAAGATGG	0.458																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(289-291)Tgc>Cgc		very low density lipoprotein receptor							271.0	239.0	250.0					9																	2639945		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2639945T>C		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.289T>C	9.37:g.2639945T>C	ENSP00000371532:p.Cys97Arg					RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.C97R	p.C97R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	3	645	+			97			LDL-receptor class A 2.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.289T>C	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703422	0.88924	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99939	-8.35;-8.0;-8.35	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000019	D	0.99961	0.9984	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96242	0.9176	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	97;97;97	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	R	97	ENSP00000371532:C97R;ENSP00000371528:C97R;ENSP00000371531:C97R	ENSP00000371528:C97R	C	+	1	0	VLDLR	2629945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	TGC		0.458	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		48	65	0	0	0	1	0	48	65				
GRM7	2917	broad.mit.edu	37	3	7188188	7188188	+	Missense_Mutation	SNP	G	G	A	rs144324520	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:7188188G>A	ENST00000357716.4	+	2	843	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	GRM7_ENST00000389336.4_Missense_Mutation_p.R190Q|GRM7_ENST00000402647.2_Missense_Mutation_p.R190Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R190Q|GRM7_ENST00000486284.1_Missense_Mutation_p.R190Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	190					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGTGATGACCGGCGCTATGAC	0.527													G|||	4	0.000798722	0.0	0.0014	5008	,	,		18593	0.0		0.003	False		,,,				2504	0.0					ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(568-570)cGg>cAg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	134.0	119.0	124.0		569,569	5.9	1.0	3	dbSNP_134	124	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	GRM7	NM_000844.3,NM_181874.2	43,43	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign,benign	190/916,190/923	7188188	8,12998	2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188188G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.569G>A	3.37:g.7188188G>A	ENSP00000350348:p.Arg190Gln					GRM7_ENST00000402647.2_Missense_Mutation_p.R190Q|GRM7_ENST00000357716.4_Missense_Mutation_p.R190Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R190Q|GRM7_ENST00000389336.4_Missense_Mutation_p.R190Q	p.R190Q	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	843	+			190					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.569G>A	CCDS43042.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	11.63	1.696585	0.30142	0.0	9.3E-4	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.220938	0.38548	N	0.001652	T	0.71693	0.3370	N	0.10782	0.045	0.37410	D	0.913184	B;B;B	0.13145	0.005;0.007;0.003	B;B;B	0.11329	0.003;0.004;0.006	T	0.66901	-0.5806	10	0.32370	T	0.25	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	190;190;190	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	Q	190	ENSP00000350348:R190Q;ENSP00000417536:R190Q;ENSP00000373987:R190Q;ENSP00000385664:R190Q;ENSP00000384585:R190Q	ENSP00000350348:R190Q	R	+	2	0	GRM7	7163188	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.432000	0.52824	2.941000	0.99782	0.655000	0.94253	CGG		0.527	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		26	43	0	0	0	1	0	26	43				
AFAP1L1	134265	broad.mit.edu	37	5	148699201	148699201	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:148699201C>A	ENST00000296721.4	+	13	1634	c.1536C>A	c.(1534-1536)ggC>ggA	p.G512G	AFAP1L1_ENST00000515000.1_Silent_p.G512G	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	512	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGATGGGCTCCAGAGTCA	0.562																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1534-1536)ggC>ggA		actin filament associated protein 1-like 1							77.0	72.0	74.0					5																	148699201		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148699201C>A	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1536C>A	5.37:g.148699201C>A						AFAP1L1_ENST00000515000.1_Silent_p.G512G	p.G512G	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1634	+			512			PH 2.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.1536C>A	CCDS34274.1																																																																																				0.562	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		7	23	1	0	1.12685e-05	1	1.16601e-05	7	23				
NDUFA7	4701	broad.mit.edu	37	19	8381425	8381425	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8381425A>G	ENST00000301457.2	-	3	243	c.206T>C	c.(205-207)aTc>aCc	p.I69T	NDUFA7_ENST00000598884.1_Missense_Mutation_p.I69T	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CGACGACATGATGATGGAAGG	0.617																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(205-207)aTc>aCc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						71.0	77.0	75.0					19																	8381425		2066	4204	6270	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381425A>G	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.206T>C	19.37:g.8381425A>G	ENSP00000301457:p.Ile69Thr					NDUFA7_ENST00000598884.1_Missense_Mutation_p.I69T	p.I69T	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	243	-			69						Missense_Mutation	SNP	ENST00000301457.2	37	c.206T>C	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578429	0.45902	.	.	ENSG00000167774	ENST00000301457	T	0.53423	0.62	5.74	4.72	0.59763	.	0.580241	0.17675	N	0.165833	T	0.47930	0.1472	M	0.70595	2.14	0.37929	D	0.931954	B	0.31459	0.324	B	0.31390	0.129	T	0.53578	-0.8419	10	0.72032	D	0.01	-13.3972	10.4282	0.44391	0.9232:0.0:0.0768:0.0	.	69	O95182	NDUA7_HUMAN	T	69	ENSP00000301457:I69T	ENSP00000301457:I69T	I	-	2	0	NDUFA7	8287425	0.989000	0.36119	0.774000	0.31636	0.346000	0.29079	8.859000	0.92264	1.014000	0.39417	0.459000	0.35465	ATC		0.617	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		31	31	0	0	0	1	0	31	31				
ROBO2	6092	broad.mit.edu	37	3	77614127	77614127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77614127C>T	ENST00000461745.1	+	12	2605	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q569*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q585*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	569	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.Q569K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACAGCTGGCAGACCGTGGC	0.448																																						ENST00000461745.1																			1	Substitution - Missense(1)	p.Q569K(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1705-1707)Cag>Tag		roundabout, axon guidance receptor, homolog 2 (Drosophila)							66.0	64.0	65.0					3																	77614127		1973	4170	6143	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614127C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1705C>T	3.37:g.77614127C>T	ENSP00000417164:p.Gln569*					ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q569*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q585*	p.Q569*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2605	+			569			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.1705C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	38	6.970247	0.97971	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	6.02	6.02	0.97574	.	0.000000	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	585;585;589;569;569;290	.	ENSP00000327536:Q569X	Q	+	1	0	ROBO2	77696817	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	CAG		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	14	0	0	0	1	0	4	14				
TMEM184C	55751	broad.mit.edu	37	4	148555573	148555573	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148555573C>T	ENST00000296582.3	+	10	1879	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	435						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CAGATAAATCCGTGGATTCCT	0.403																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1303-1305)tcC>tcT		transmembrane protein 184C							57.0	60.0	59.0					4																	148555573		2202	4298	6500	SO:0001819	synonymous_variant	55751					integral to membrane		g.chr4:148555573C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1305C>T	4.37:g.148555573C>T						TMEM184C_ENST00000508208.1_Intron	p.S435S	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1879	+			435					D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	c.1305C>T	CCDS3770.1																																																																																				0.403	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		15	19	0	0	0	1	0	15	19				
CFAP45	25790	broad.mit.edu	37	1	159856423	159856423	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159856423C>T	ENST00000368099.4	-	6	709	c.645G>A	c.(643-645)caG>caA	p.Q215Q	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Silent_p.Q130Q	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTTGGATCTGCTGCTTCTCCA	0.498																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(388-390)caG>caA		coiled-coil domain containing 19							248.0	238.0	241.0					1																	159856423		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159856423C>T																												ENST00000368099.4:c.645G>A	1.37:g.159856423C>T						CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.Q215Q	p.Q130Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		6	845	-	all_hematologic(112;0.0597)		215						Silent	SNP	ENST00000368099.4	37	c.390G>A	CCDS30914.1																																																																																				0.498	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			55	89	0	0	0	1	0	55	89				
UMPS	7372	broad.mit.edu	37	3	124456423	124456423	+	Missense_Mutation	SNP	C	C	T	rs145382799		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124456423C>T	ENST00000232607.2	+	3	425	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.R15C|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	107	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AGGAACTAAGCGTCTTGTAGA	0.343																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(319-321)Cgt>Tgt		uridine monophosphate synthetase		C	CYS/ARG	0,4406		0,0,2203	80.0	85.0	83.0		319	3.8	0.8	3	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	UMPS	NM_000373.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/481	124456423	1,13005	2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456423C>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.319C>T	3.37:g.124456423C>T	ENSP00000232607:p.Arg107Cys					UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.R15C|UMPS_ENST00000498715.1_3'UTR	p.R107C	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	425	+			107			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.319C>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535722	0.45176	0.0	1.16E-4	ENSG00000114491	ENST00000232607;ENST00000536109	T;T	0.72725	-0.68;-0.68	5.55	3.76	0.43208	Phosphoribosyltransferase (1);	0.201769	0.43919	N	0.000517	T	0.70605	0.3243	M	0.83223	2.63	0.80722	D	1	B	0.26845	0.161	B	0.26614	0.071	T	0.70479	-0.4860	10	0.87932	D	0	-1.471	9.0793	0.36542	0.1465:0.7804:0.0:0.073	.	107	P11172	UMPS_HUMAN	C	107;15	ENSP00000232607:R107C;ENSP00000443577:R15C	ENSP00000232607:R107C	R	+	1	0	UMPS	125939113	1.000000	0.71417	0.848000	0.33437	0.993000	0.82548	2.065000	0.41442	0.896000	0.36366	0.655000	0.94253	CGT		0.343	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		35	57	0	0	0	1	0	35	57				
ADAMTS10	81794	broad.mit.edu	37	19	8670528	8670528	+	Missense_Mutation	SNP	G	G	A	rs376131325	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8670528G>A	ENST00000597188.1	-	3	338	c.68C>T	c.(67-69)aCg>aTg	p.T23M	ADAMTS10_ENST00000596709.1_Intron|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.T23M	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	23						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAAGGCGTGCGTGACCTCGAA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		13977	0.002		0.0	False		,,,				2504	0.0					ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(67-69)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 10							34.0	31.0	32.0					19																	8670528		2201	4300	6501	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670528G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.68C>T	19.37:g.8670528G>A	ENSP00000471851:p.Thr23Met					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.T23M|ADAMTS10_ENST00000596709.1_Intron	p.T23M			Q9H324	ATS10_HUMAN			2	334	-			23					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.68C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052513	0.36181	.	.	ENSG00000142303	ENST00000270328	T	0.60171	0.21	5.52	0.641	0.17759	.	0.249934	0.29760	U	0.011265	T	0.30166	0.0756	N	0.19112	0.55	0.09310	N	1	P	0.41524	0.753	B	0.32583	0.148	T	0.19484	-1.0304	10	0.48119	T	0.1	.	3.6007	0.08023	0.2902:0.0:0.5379:0.1719	.	23	Q9H324	ATS10_HUMAN	M	23	ENSP00000270328:T23M	ENSP00000270328:T23M	T	-	2	0	ADAMTS10	8576528	0.178000	0.23122	0.212000	0.23672	0.969000	0.65631	1.605000	0.36815	0.259000	0.21709	0.561000	0.74099	ACG		0.632	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	19	0	0	0	1	0	4	19				
COL11A1	1301	broad.mit.edu	37	1	103491098	103491098	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103491098C>T	ENST00000370096.3	-	7	1281	c.969G>A	c.(967-969)agG>agA	p.R323R	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Silent_p.R284R|COL11A1_ENST00000358392.2_Silent_p.R335R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	323	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGAAACATGCCTAGGAGCTT	0.333																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1003-1005)agG>agA		collagen, type XI, alpha 1							140.0	133.0	135.0					1																	103491098		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491098C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.969G>A	1.37:g.103491098C>T						COL11A1_ENST00000353414.4_Silent_p.R284R|COL11A1_ENST00000370096.3_Silent_p.R323R|COL11A1_ENST00000512756.1_Intron	p.R335R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	7	1322	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	323			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1005G>A	CCDS778.1																																																																																				0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		18	47	0	0	0	1	0	18	47				
NBN	4683	broad.mit.edu	37	8	90993094	90993094	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:90993094G>A	ENST00000265433.3	-	4	502	c.348C>T	c.(346-348)tgC>tgT	p.C116C	NBN_ENST00000409330.1_Silent_p.C34C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	116	BRCT.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AACAAGAAGAGCATGCAACCA	0.343								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(346-348)tgC>tgT	Homologous recombination	nibrin							91.0	82.0	85.0					8																	90993094		2203	4300	6503	SO:0001819	synonymous_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90993094G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.348C>T	8.37:g.90993094G>A						NBN_ENST00000409330.1_Silent_p.C34C	p.C116C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		4	502	-			116			BRCT.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.348C>T	CCDS6249.1																																																																																				0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		24	28	0	0	0	1	0	24	28				
ERICH3	127254	broad.mit.edu	37	1	75036839	75036839	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75036839C>T	ENST00000326665.5	-	14	4773	c.4555G>A	c.(4555-4557)Gag>Aag	p.E1519K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1519										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGCAGTCTCGCTTTCTCCT	0.493																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4555-4557)Gag>Aag		chromosome 1 open reading frame 173							183.0	179.0	180.0					1																	75036839		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75036839C>T																												ENST00000326665.5:c.4555G>A	1.37:g.75036839C>T	ENSP00000322609:p.Glu1519Lys					C1orf173_ENST00000433746.2_5'UTR	p.E1519K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4773	-			1519					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4555G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142889	0.57044	.	.	ENSG00000178965	ENST00000326665	T	0.19250	2.16	5.08	4.15	0.48705	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.19575	N	0.999963	B	0.27117	0.168	B	0.23716	0.048	T	0.31364	-0.9946	9	0.59425	D	0.04	-2.1744	8.241	0.31660	0.0:0.8151:0.0:0.1849	.	1519	Q5RHP9	CA173_HUMAN	K	1519	ENSP00000322609:E1519K	ENSP00000322609:E1519K	E	-	1	0	C1orf173	74809427	0.001000	0.12720	0.004000	0.12327	0.006000	0.05464	0.709000	0.25734	1.097000	0.41459	0.561000	0.74099	GAG		0.493	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	114	0	0	0	1	0	6	114				
LMLN	89782	broad.mit.edu	37	3	197762892	197762892	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197762892C>T	ENST00000330198.4	+	15	1867	c.1845C>T	c.(1843-1845)aaC>aaT	p.N615N	LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000420910.2_Silent_p.N652N|LMLN_ENST00000332636.5_Silent_p.N563N|LMLN_ENST00000482695.1_Silent_p.N600N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	615					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAGCCACTAACCTGACCCGAG	0.488																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1843-1845)aaC>aaT		leishmanolysin-like (metallopeptidase M8 family)							75.0	74.0	74.0					3																	197762892		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197762892C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1845C>T	3.37:g.197762892C>T						LMLN_ENST00000482695.1_Silent_p.N600N|LMLN_ENST00000332636.5_Silent_p.N563N|LMLN_ENST00000420910.2_Silent_p.N652N	p.N615N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	15	1867	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	615					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1845C>T	CCDS3332.1																																																																																				0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		20	40	0	0	0	1	0	20	40				
FAM214A	56204	broad.mit.edu	37	15	52903327	52903327	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52903327C>A	ENST00000261844.7	-	5	682	c.530G>T	c.(529-531)aGa>aTa	p.R177I	FAM214A_ENST00000546305.2_Splice_Site_p.R184I	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	177																	CTAGACATACCTGTAGAGAAT	0.408																																						ENST00000261844.7																			0											c.e5+1		family with sequence similarity 214, member A							117.0	114.0	115.0					15																	52903327		1860	4099	5959	SO:0001630	splice_region_variant	56204							g.chr15:52903327C>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.530+1G>T	15.37:g.52903327C>A						FAM214A_ENST00000546305.2_Splice_Site_p.R184_splice	p.R177_splice	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			5	682	-			177					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Splice_Site	SNP	ENST00000261844.7	37	c.530_splice	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712732	0.96830	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.50277	0.75;0.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.61436	-0.7063	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	184;177	F5H8G0;Q32MH5	.;K1370_HUMAN	I	177;177;176;184	ENSP00000261844:R177I;ENSP00000443598:R184I	.	R	-	2	0	KIAA1370	50690619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	AGA		0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	Missense_Mutation	6	81	1	0	0.0293803	1	0.0295506	6	81				
POLE2	5427	broad.mit.edu	37	14	50131364	50131364	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50131364G>A	ENST00000216367.5	-	9	761	c.662C>T	c.(661-663)gCa>gTa	p.A221V	POLE2_ENST00000554396.1_Missense_Mutation_p.A221V|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Missense_Mutation_p.A195V	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	221					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	GACAAAGCATGCCTCTGTGTA	0.358																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(583-585)gCa>gTa		polymerase (DNA directed), epsilon 2, accessory subunit							130.0	128.0	129.0					14																	50131364		2203	4298	6501	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50131364G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.662C>T	14.37:g.50131364G>A	ENSP00000216367:p.Ala221Val					POLE2_ENST00000554396.1_Missense_Mutation_p.A221V|POLE2_ENST00000216367.5_Missense_Mutation_p.A221V|POLE2_ENST00000556584.1_5'UTR	p.A195V	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			8	802	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		221					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.584C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645922	0.67358	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.30714	1.93;1.94;1.52	5.1	5.1	0.69264	.	0.284303	0.40640	N	0.001052	T	0.26048	0.0635	N	0.22421	0.69	0.32562	N	0.530959	B	0.19583	0.037	B	0.18263	0.021	T	0.28522	-1.0041	10	0.87932	D	0	-8.7743	18.8722	0.92320	0.0:0.0:1.0:0.0	.	221	P56282	DPOE2_HUMAN	V	221;195;221	ENSP00000216367:A221V;ENSP00000446313:A195V;ENSP00000451621:A221V	ENSP00000216367:A221V	A	-	2	0	POLE2	49201114	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	7.807000	0.86032	2.544000	0.85801	0.491000	0.48974	GCA		0.358	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		6	86	0	0	0	1	0	6	86				
CLASP1	23332	broad.mit.edu	37	2	122215273	122215273	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:122215273C>T	ENST00000263710.4	-	14	1764	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	CLASP1_ENST00000541377.1_Missense_Mutation_p.A459T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A459T|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000541859.1_Missense_Mutation_p.A228T|CLASP1_ENST00000455322.2_Missense_Mutation_p.A459T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A227T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A459T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	459					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTCTAACTGCGACAGACTTA	0.338																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(1375-1377)Gca>Aca		cytoplasmic linker associated protein 1							92.0	85.0	87.0					2																	122215273		1831	4095	5926	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122215273C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1375G>A	2.37:g.122215273C>T	ENSP00000263710:p.Ala459Thr					CLASP1_ENST00000455322.2_Missense_Mutation_p.A459T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A459T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A459T|CLASP1_ENST00000541859.1_Missense_Mutation_p.A228T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A459T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A227T	p.A459T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			14	1764	-	Renal(3;0.0496)		459					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.1375G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.202633	0.94997	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.998;0.999	T	0.65952	-0.6043	10	0.49607	T	0.09	-17.933	20.089	0.97809	0.0:1.0:0.0:0.0	.	459;459;459;459	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	459;459;459;459;228;459;227	ENSP00000263710:A459T;ENSP00000389372:A459T;ENSP00000380717:A459T;ENSP00000441625:A459T;ENSP00000441770:A228T;ENSP00000386442:A459T;ENSP00000438620:A227T	ENSP00000263710:A459T	A	-	1	0	CLASP1	121931743	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	7.743000	0.85020	2.752000	0.94435	0.557000	0.71058	GCA		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		13	22	0	0	0	1	0	13	22				
ANK2	287	broad.mit.edu	37	4	114177015	114177015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114177015C>T	ENST00000357077.4	+	11	1168	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	ANK2_ENST00000264366.6_Missense_Mutation_p.A372V|ANK2_ENST00000506722.1_Missense_Mutation_p.A351V|ANK2_ENST00000394537.3_Missense_Mutation_p.A372V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	372					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCACGTTGCTGCGCACTGT	0.542																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1114-1116)gCt>gTt		ankyrin 2, neuronal							177.0	154.0	162.0					4																	114177015		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114177015C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1115C>T	4.37:g.114177015C>T	ENSP00000349588:p.Ala372Val					ANK2_ENST00000264366.6_Missense_Mutation_p.A372V|ANK2_ENST00000394537.3_Missense_Mutation_p.A372V|ANK2_ENST00000506722.1_Missense_Mutation_p.A351V	p.A372V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1168	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	372					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1115C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689889	0.96784	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.80909	-1.43;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000036	D	0.92456	0.7605	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.986;1.0	D;P;D;P;D	0.91635	0.999;0.891;0.952;0.639;0.99	D	0.93179	0.6573	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	372;372;372;351;351	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	351;351;351;387;372;372;372;351	ENSP00000423799:A351V;ENSP00000421011:A351V;ENSP00000421067:A351V;ENSP00000424722:A387V;ENSP00000378044:A372V;ENSP00000349588:A372V;ENSP00000264366:A372V	ENSP00000264366:A372V	A	+	2	0	ANK2	114396464	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GCT		0.542	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		38	57	0	0	0	1	0	38	57				
LYPD4	147719	broad.mit.edu	37	19	42342249	42342249	+	Missense_Mutation	SNP	C	C	T	rs550628417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42342249C>T	ENST00000330743.3	-	4	1509	c.298G>A	c.(298-300)Gga>Aga	p.G100R	LYPD4_ENST00000343055.4_Missense_Mutation_p.G65R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G65R|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	100						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATGGACACTCCGGGTGGGGAA	0.542													-|||	1	0.000199681	0.0008	0.0	5008	,	,		17762	0.0		0.0	False		,,,				2504	0.0					ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(298-300)Gga>Aga		LY6/PLAUR domain containing 4							123.0	111.0	115.0					19																	42342249		2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342249C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.298G>A	19.37:g.42342249C>T	ENSP00000328737:p.Gly100Arg					LYPD4_ENST00000343055.4_Missense_Mutation_p.G65R|LYPD4_ENST00000601246.1_Missense_Mutation_p.G65R	p.G100R	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1509	-			100					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.298G>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.090324	0.55968	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.59502	2.53;0.26	3.99	3.99	0.46301	.	0.000000	0.49305	D	0.000154	T	0.75547	0.3864	M	0.83223	2.63	0.37352	D	0.910864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81556	-0.0879	10	0.87932	D	0	-11.1126	11.9434	0.52913	0.0:1.0:0.0:0.0	.	65;100	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	R	100;65	ENSP00000328737:G100R;ENSP00000339568:G65R	ENSP00000328737:G100R	G	-	1	0	LYPD4	47034089	0.976000	0.34144	0.984000	0.44739	0.333000	0.28666	2.958000	0.49145	2.544000	0.85801	0.451000	0.29950	GGA		0.542	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		10	23	0	0	0	1	0	10	23				
EED	8726	broad.mit.edu	37	11	85988974	85988974	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:85988974C>T	ENST00000263360.6	+	11	1826	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	EED_ENST00000527888.1_Silent_p.G45G|EED_ENST00000351625.6_Silent_p.G405G|EED_ENST00000528180.1_Silent_p.G300G|EED_ENST00000327320.4_Silent_p.G380G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	380	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTGCATTGGGCAATCAAGTTG	0.313																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(1138-1140)ggC>ggT		embryonic ectoderm development							77.0	84.0	82.0					11																	85988974		2201	4298	6499	SO:0001819	synonymous_variant	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85988974C>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1140C>T	11.37:g.85988974C>T						EED_ENST00000327320.4_Silent_p.G380G|EED_ENST00000527888.1_Silent_p.G45G|EED_ENST00000351625.6_Silent_p.G405G|EED_ENST00000528180.1_Silent_p.G300G	p.G380G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			11	1826	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	380			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	c.1140C>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	C	9.714	1.157813	0.21454	.	.	ENSG00000074266	ENST00000534595	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49143	-0.8970	4	.	.	.	-9.95	5.2748	0.15643	0.0:0.6356:0.1753:0.1892	.	.	.	.	V	95	.	.	A	+	2	0	EED	85666622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.100000	0.31025	2.609000	0.88269	0.591000	0.81541	GCA		0.313	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		32	61	0	0	0	1	0	32	61				
GAS2L2	246176	broad.mit.edu	37	17	34072633	34072633	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34072633C>T	ENST00000254466.6	-	6	1910	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G612E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	628					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGATGACCCCAGACCTTGT	0.577																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1882-1884)gGg>gAg		growth arrest-specific 2 like 2							108.0	113.0	111.0					17																	34072633		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072633C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1883G>A	17.37:g.34072633C>T	ENSP00000254466:p.Gly628Glu					GAS2L2_ENST00000587565.1_Missense_Mutation_p.G612E	p.G628E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1910	-		Ovarian(249;0.17)	628					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1883G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.122562	0.00346	.	.	ENSG00000132139	ENST00000254466	T	0.16457	2.34	4.24	-3.53	0.04667	.	1.755940	0.03186	N	0.172678	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.16928	-1.0386	10	0.05620	T	0.96	1.1958	2.8764	0.05632	0.1279:0.3452:0.3617:0.1653	.	628	Q8NHY3	GA2L2_HUMAN	E	628	ENSP00000254466:G628E	ENSP00000254466:G628E	G	-	2	0	GAS2L2	31096746	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.196000	0.17176	-0.543000	0.06240	0.591000	0.81541	GGG		0.577	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		33	52	0	0	0	1	0	33	52				
EML4	27436	broad.mit.edu	37	2	42472683	42472683	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:42472683G>T	ENST00000318522.5	+	2	326	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	EML4_ENST00000401738.3_Missense_Mutation_p.D22Y|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.D22Y	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	22					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGATGTTCAAGATCGCCTGTC	0.368			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(64-66)Gat>Tat		echinoderm microtubule associated protein like 4							101.0	88.0	92.0					2																	42472683		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42472683G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.64G>T	2.37:g.42472683G>T	ENSP00000320663:p.Asp22Tyr					EML4_ENST00000402711.2_Missense_Mutation_p.D22Y|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.D22Y	p.D22Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			2	326	+			22					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.64G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983454	0.93044	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.63096	0.63;-0.02;0.63	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80259	0.4590	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.80609	-0.1306	10	0.87932	D	0	-19.295	20.3138	0.98647	0.0:0.0:1.0:0.0	.	22;22;22	B5MCW9;Q9HC35;A6P4T4	.;EMAL4_HUMAN;.	Y	22	ENSP00000320663:D22Y;ENSP00000385059:D22Y;ENSP00000384939:D22Y	ENSP00000320663:D22Y	D	+	1	0	EML4	42326187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.836000	0.92105	2.814000	0.96858	0.585000	0.79938	GAT		0.368	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		5	47	1	0	0.000602214	1	0.000612743	5	47				
KNSTRN	90417	broad.mit.edu	37	15	40685710	40685710	+	Missense_Mutation	SNP	G	G	A	rs200025938		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40685710G>A	ENST00000249776.8	+	9	978	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000608100.1_Missense_Mutation_p.R210Q	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GAAAGAGTCCGATTCCTAGAA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22269	0.0		0.0	False		,,,				2504	0.0					ENST00000249776.8																			0											c.(862-864)cGa>cAa		kinetochore-localized astrin/SPAG5 binding protein		G	,,GLN/ARG	2,3778		0,2,1888	151.0	139.0	143.0		,,863	-4.6	0.0	15		143	0,8192		0,0,4096	no	utr-3,utr-3,missense	C15orf23	NM_001142761.1,NM_001142762.1,NM_033286.3	,,43	0,2,5984	AA,AG,GG		0.0,0.0529,0.0167	,,benign	,,288/317	40685710	2,11970	1890	4096	5986	SO:0001583	missense	90417							g.chr15:40685710G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.863G>A	15.37:g.40685710G>A	ENSP00000249776:p.Arg288Gln					KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000416151.2_3'UTR	p.R288Q	NM_033286.3	NP_150628.3					9	978	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.863G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	3.528	-0.096378	0.07010	5.29E-4	0.0	ENSG00000128944	ENST00000249776	T	0.22336	1.96	5.02	-4.64	0.03349	.	0.850326	0.10101	N	0.715941	T	0.07324	0.0185	N	0.03608	-0.345	0.09310	N	0.999995	B	0.19706	0.038	B	0.12837	0.008	T	0.43310	-0.9399	10	0.07325	T	0.83	-6.2627	13.032	0.58847	0.7828:0.0:0.2172:0.0	.	288	Q9Y448	T4AF1_HUMAN	Q	288	ENSP00000249776:R288Q	ENSP00000249776:R288Q	R	+	2	0	C15orf23	38473002	0.000000	0.05858	0.011000	0.14972	0.731000	0.41821	-0.703000	0.05063	-0.762000	0.04664	-0.355000	0.07637	CGA		0.373	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		30	28	0	0	0	1	0	30	28				
UBA6	55236	broad.mit.edu	37	4	68543398	68543398	+	Silent	SNP	G	G	A	rs371915320		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68543398G>A	ENST00000322244.5	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	132					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294																																						ENST00000322244.4																			1	Substitution - Nonsense(1)	p.Y132*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(394-396)taC>taT		ubiquitin-like modifier activating enzyme 6		A		1,4405	825.8+/-416.5	0,1,2202	156.0	152.0	153.0		396	1.2	1.0	4		153	0,8596		0,0,4298	no	coding-synonymous	UBA6	NM_018227.5		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		132/1053	68543398	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543398G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.396C>T	4.37:g.68543398G>A						UBA6_ENST00000420827.2_Silent_p.Y132Y	p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			6	455	-			132					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.396C>T	CCDS3516.1																																																																																				0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		20	31	0	0	0	1	0	20	31				
ZFHX3	463	broad.mit.edu	37	16	72993051	72993051	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72993051C>A	ENST00000268489.5	-	2	1666	c.994G>T	c.(994-996)Gac>Tac	p.D332Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	332					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTCCTTGTCTTTGCCGATC	0.463																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(994-996)Gac>Tac		zinc finger homeobox 3							72.0	73.0	73.0					16																	72993051		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993051C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.994G>T	16.37:g.72993051C>A	ENSP00000268489:p.Asp332Tyr					ZFHX3_ENST00000397992.5_Intron	p.D332Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1666	-		Ovarian(137;0.13)	332					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.994G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890388	0.33348	.	.	ENSG00000140836	ENST00000268489	T	0.80123	-1.34	4.92	4.92	0.64577	.	0.000000	0.51477	D	0.000088	D	0.88983	0.6586	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90031	0.4135	10	0.72032	D	0.01	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	332	Q15911	ZFHX3_HUMAN	Y	332	ENSP00000268489:D332Y	ENSP00000268489:D332Y	D	-	1	0	ZFHX3	71550552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.448000	0.82819	0.591000	0.81541	GAC		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		19	69	1	0	0.000175454	1	0.00017952	19	69				
HIGD2B	123346	broad.mit.edu	37	15	72968598	72968598	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72968598G>T	ENST00000311755.3	-	3	641	c.118C>A	c.(118-120)Ctt>Att	p.L40I				Q4VC39	HIG2B_HUMAN	HIG1 hypoxia inducible domain family, member 2B	40	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)											GTCTTGCGAAGGAACTTTTCC	0.577																																						ENST00000311755.3																			0											c.(118-120)Ctt>Att		HIG1 hypoxia inducible domain family, member 2B																																				SO:0001583	missense	123346							g.chr15:72968598G>T	BC040890		15q24.1	2014-04-01	2011-08-04	2009-03-18	ENSG00000175202	ENSG00000175202			26984	other	unknown			"""HIG1 hypoxia inducible domain family, member 2B (pseudogene)"""	HIGD2BP			Standard	NR_002780		Approved		uc002ava.3	Q4VC39	OTTHUMG00000172776	ENST00000311755.3:c.118C>A	15.37:g.72968598G>T	ENSP00000307951:p.Leu40Ile						p.L40I							3	641	-									Missense_Mutation	SNP	ENST00000311755.3	37	c.118C>A		.	.	.	.	.	.	.	.	.	.	G	0.016	-1.532862	0.00951	.	.	ENSG00000175202	ENST00000311755	.	.	.	0.158	0.158	0.14942	.	0.471174	0.22373	N	0.060905	T	0.15782	0.0380	.	.	.	0.22424	N	0.999113	.	.	.	.	.	.	T	0.15665	-1.0429	6	0.14656	T	0.56	-34.1067	2.9707	0.05922	2.0E-4:2.0E-4:0.5121:0.4875	.	.	.	.	I	40	.	ENSP00000307951:L40I	L	-	1	0	HIGD2B	70755651	0.926000	0.31397	0.037000	0.18230	0.037000	0.13140	-0.371000	0.07513	0.202000	0.20498	0.205000	0.17691	CTT		0.577	HIGD2B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420413.2	NM_001017925		7	9	1	0	0.000274275	1	0.000279654	7	9				
CALML3	810	broad.mit.edu	37	10	5567358	5567358	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5567358G>A	ENST00000315238.1	+	1	435	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000543008.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	104	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						CGTCAGCGCCGCCGAGCTGCG	0.652																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(310-312)Gcc>Acc		calmodulin-like 3							80.0	60.0	67.0					10																	5567358		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567358G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.310G>A	10.37:g.5567358G>A	ENSP00000315299:p.Ala104Thr					RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	p.A104T	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	435	+			104			EF-hand 3.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.310G>A	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215470	0.22373	.	.	ENSG00000178363	ENST00000315238	T	0.37915	1.17	5.23	4.33	0.51752	EF-hand-like domain (1);	0.000000	0.49916	D	0.000129	T	0.26159	0.0638	N	0.25144	0.715	0.58432	D	0.999999	B	0.28026	0.198	B	0.21917	0.037	T	0.07481	-1.0770	10	0.72032	D	0.01	-34.5237	14.0237	0.64573	0.0:0.0:0.8476:0.1524	.	104	P27482	CALL3_HUMAN	T	104	ENSP00000315299:A104T	ENSP00000315299:A104T	A	+	1	0	CALML3	5557358	1.000000	0.71417	0.027000	0.17364	0.003000	0.03518	4.779000	0.62375	1.200000	0.43188	-0.261000	0.10672	GCC		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		5	12	0	0	0	1	0	5	12				
ENO2	2026	broad.mit.edu	37	12	7028840	7028840	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7028840G>A	ENST00000535366.1	+	7	1404	c.778G>A	c.(778-780)Gac>Aac	p.D260N	ENO2_ENST00000229277.1_Missense_Mutation_p.D260N|ENO2_ENST00000544774.1_Missense_Mutation_p.D217N|ENO2_ENST00000545045.2_Missense_Mutation_p.D141N|ENO2_ENST00000538763.1_Missense_Mutation_p.D217N|ENO2_ENST00000541477.1_Missense_Mutation_p.D260N			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	260					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATATGACTTGGACTTCAAGTC	0.512																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(778-780)Gac>Aac		enolase 2 (gamma, neuronal)							157.0	124.0	135.0					12																	7028840		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7028840G>A	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.778G>A	12.37:g.7028840G>A	ENSP00000437402:p.Asp260Asn					ENO2_ENST00000545045.2_Missense_Mutation_p.D141N|ENO2_ENST00000544774.1_Missense_Mutation_p.D217N|ENO2_ENST00000541477.1_Missense_Mutation_p.D260N|ENO2_ENST00000538763.1_Missense_Mutation_p.D217N|ENO2_ENST00000229277.1_Missense_Mutation_p.D260N	p.D260N			P09104	ENOG_HUMAN			7	1404	+			260					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.778G>A	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320069	0.95682	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.23	5.23	0.72850	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.88377	2.95	0.80722	D	1	P;P	0.46784	0.884;0.799	P;P	0.55011	0.766;0.762	T	0.52631	-0.8550	10	0.37606	T	0.19	-26.3509	18.8056	0.92035	0.0:0.0:1.0:0.0	.	217;260	B7Z2X9;P09104	.;ENOG_HUMAN	N	260;260;217;217;260;141	ENSP00000438873:D260N;ENSP00000229277:D260N;ENSP00000441490:D217N;ENSP00000446195:D217N;ENSP00000437402:D260N;ENSP00000438062:D141N	ENSP00000229277:D260N	D	+	1	0	ENO2	6899101	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.856000	0.99531	2.447000	0.82792	0.543000	0.68304	GAC		0.512	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			21	25	0	0	0	1	0	21	25				
RAPH1	65059	broad.mit.edu	37	2	204305754	204305754	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204305754G>A	ENST00000319170.5	-	14	2458	c.2159C>T	c.(2158-2160)aCc>aTc	p.T720I	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.T772I|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	720					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGCCtggggttgggggtgg	0.612																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2158-2160)aCc>aTc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							16.0	21.0	20.0					2																	204305754		1978	4055	6033	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305754G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2159C>T	2.37:g.204305754G>A	ENSP00000316543:p.Thr720Ile					RAPH1_ENST00000374493.3_Missense_Mutation_p.T772I|RAPH1_ENST00000457812.1_Intron	p.T720I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2458	-			720					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.2159C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319324	0.23994	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.41758	0.99;0.99	2.1	1.14	0.20703	.	.	.	.	.	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	0.999998	B	0.34147	0.438	B	0.35413	0.202	T	0.20174	-1.0283	9	0.16420	T	0.52	.	8.9967	0.36057	0.0:0.0:0.7761:0.2239	.	720	Q70E73	RAPH1_HUMAN	I	720;772	ENSP00000316543:T720I;ENSP00000363617:T772I	ENSP00000316543:T720I	T	-	2	0	RAPH1	204013999	0.571000	0.26659	0.025000	0.17156	0.896000	0.52359	2.302000	0.43637	0.392000	0.25172	0.305000	0.20034	ACC		0.612	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	12	0	0	0	1	0	7	12				
BAHCC1	57597	broad.mit.edu	37	17	79405428	79405428	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79405428G>A	ENST00000307745.7	+	8	391	c.391G>A	c.(391-393)Gca>Aca	p.A131T																								GGGGAGTCTGGCATCCACCTT	0.582																																						ENST00000307745.7																			0											c.(391-393)Gca>Aca									53.0	53.0	53.0					17																	79405428		2026	4185	6211	SO:0001583	missense	0							g.chr17:79405428G>A																												ENST00000307745.7:c.391G>A	17.37:g.79405428G>A	ENSP00000303486:p.Ala131Thr						p.A131T							8	391	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.391G>A		.	.	.	.	.	.	.	.	.	.	G	29.1	4.980072	0.92982	.	.	ENSG00000171282	ENST00000307745	T	0.15834	2.39	3.87	3.87	0.44632	.	.	.	.	.	T	0.35682	0.0940	L	0.51422	1.61	0.49582	D	0.9998	D	0.89917	1.0	D	0.80764	0.994	T	0.15925	-1.0420	9	0.59425	D	0.04	.	15.6117	0.76727	0.0:0.0:1.0:0.0	.	131	Q9P281	BAHC1_HUMAN	T	131	ENSP00000303486:A131T	ENSP00000303486:A131T	A	+	1	0	AC110285.1	77020023	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.933000	0.75874	1.990000	0.58119	0.491000	0.48974	GCA		0.582	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				10	10	0	0	0	1	0	10	10				
PUS7	54517	broad.mit.edu	37	7	105146679	105146679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:105146679C>T	ENST00000356362.2	-	3	654	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	PUS7_ENST00000469408.1_Missense_Mutation_p.R147Q	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	147					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATGGCTGATCCGTCCATCTTT	0.353																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(439-441)cGg>cAg		pseudouridylate synthase 7 homolog (S. cerevisiae)							70.0	69.0	69.0					7																	105146679		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105146679C>T	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.440G>A	7.37:g.105146679C>T	ENSP00000348722:p.Arg147Gln					PUS7_ENST00000469408.1_Missense_Mutation_p.R147Q	p.R147Q	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			3	654	-			147					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.440G>A	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090726	0.20471	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.40756	1.02;1.02	5.55	0.136	0.14780	Pseudouridine synthase, catalytic domain (1);	0.300009	0.33938	N	0.004406	T	0.23210	0.0561	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.15407	-1.0438	10	0.26408	T	0.33	-4.1078	9.2031	0.37272	0.0:0.5141:0.0:0.4859	.	147;147	B3KY42;Q96PZ0	.;PUS7_HUMAN	Q	147	ENSP00000348722:R147Q;ENSP00000417402:R147Q	ENSP00000348722:R147Q	R	-	2	0	PUS7	104933915	0.009000	0.17119	0.001000	0.08648	0.998000	0.95712	0.374000	0.20501	-0.188000	0.10499	0.563000	0.77884	CGG		0.353	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		20	33	0	0	0	1	0	20	33				
DDR1	780	broad.mit.edu	37	6	30856711	30856711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30856711C>T	ENST00000324771.8	+	5	660	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q38*|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000446312.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q56*|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q38*|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q38*			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	38	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTGGGCATGCAGGACCGGAC	0.602																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(112-114)Cag>Tag		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						92.0	70.0	78.0					6																	30856711		1511	2708	4219	SO:0001587	stop_gained	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856711C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.112C>T	6.37:g.30856711C>T	ENSP00000318217:p.Gln38*					DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q38*|DDR1_ENST00000446312.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q38*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q56*|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q38*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q38*|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q38*	p.Q38*			Q08345	DDR1_HUMAN			5	660	+			38			F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	ENST00000324771.8	37	c.112C>T	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.811238|6.811238	0.97857|0.97857	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000424544|ENST00000502955;ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000503180;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000412274;ENST00000507901;ENST00000454612;ENST00000507046;ENST00000437124;ENST00000396342;ENST00000504651;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000513043;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000503670;ENST00000376567;ENST00000513240	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.068773	.|0.64402	.|D	.|0.000017	T|.	0.70971|.	0.3285|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75119|.	-0.3430|.	4|.	.|0.72032	.|D	.|0.01	.|.	16.2735|16.2735	0.82632|0.82632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	31|38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;38;56;38;38;38;38;64;38;38;38	.|.	.|ENSP00000318217:Q38X	A|Q	+|+	2|1	0|0	DDR1|DDR1	30964690|30964690	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.756000|0.756000	0.26419|0.26419	2.427000|2.427000	0.82271|0.82271	0.305000|0.305000	0.20034|0.20034	GCA|CAG		0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		19	19	0	0	0	1	0	19	19				
LRRC30	339291	broad.mit.edu	37	18	7231883	7231883	+	Silent	SNP	C	C	T	rs369417210		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:7231883C>T	ENST00000383467.2	+	1	761	c.747C>T	c.(745-747)agC>agT	p.S249S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	249										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCCTCCCGAGCGAACTCCACC	0.572																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(745-747)agC>agT		leucine rich repeat containing 30		C		1,4053		0,1,2026	74.0	79.0	77.0		747	-11.6	0.0	18		77	0,8374		0,0,4187	no	coding-synonymous	LRRC30	NM_001105581.1		0,1,6213	TT,TC,CC		0.0,0.0247,0.0080		249/302	7231883	1,12427	2027	4187	6214	SO:0001819	synonymous_variant	339291							g.chr18:7231883C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.747C>T	18.37:g.7231883C>T							p.S249S	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	761	+			249						Silent	SNP	ENST00000383467.2	37	c.747C>T	CCDS42409.1																																																																																				0.572	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		28	27	0	0	0	1	0	28	27				
SALL3	27164	broad.mit.edu	37	18	76753098	76753098	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:76753098C>T	ENST00000537592.2	+	2	1107	c.1107C>T	c.(1105-1107)agC>agT	p.S369S	SALL3_ENST00000575389.2_Silent_p.S369S|SALL3_ENST00000536229.3_Silent_p.S236S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	369					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTTCCGCCAGCGGCGTCATCT	0.716																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(706-708)agC>agT		spalt-like transcription factor 3							13.0	14.0	14.0					18																	76753098		2172	4255	6427	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753098C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1107C>T	18.37:g.76753098C>T						SALL3_ENST00000575389.2_Silent_p.S369S|SALL3_ENST00000537592.2_Silent_p.S369S	p.S236S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1417	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	369					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.708C>T	CCDS12013.1																																																																																				0.716	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5	0	0	0	1	0	3	5				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	72	0	0	0	1	0	7	72				
SPDL1	54908	broad.mit.edu	37	5	169031117	169031117	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169031117C>T	ENST00000265295.4	+	12	2003	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAGAAACTTCAAGCAAATTG	0.363																																						ENST00000265295.4																			0											c.(1723-1725)tCa>tTa		spindle apparatus coiled-coil protein 1							69.0	76.0	74.0					5																	169031117		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169031117C>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1724C>T	5.37:g.169031117C>T	ENSP00000265295:p.Ser575Leu						p.S575L	NM_017785.4	NP_060255.3					12	2003	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1724C>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642290	0.47153	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.30448	1.53	5.84	5.84	0.93424	.	0.774581	0.12502	N	0.463234	T	0.16385	0.0394	N	0.08118	0	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.12837	0.006;0.008	T	0.14200	-1.0481	10	0.22706	T	0.39	-0.6176	9.2718	0.37675	0.1458:0.7801:0.0:0.0741	.	497;575	B4E393;Q96EA4	.;SPDLY_HUMAN	L	575;476	ENSP00000265295:S575L	ENSP00000265295:S575L	S	+	2	0	CCDC99	168963695	0.997000	0.39634	0.968000	0.41197	0.997000	0.91878	2.149000	0.42244	2.779000	0.95612	0.650000	0.86243	TCA		0.363	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		24	33	0	0	0	1	0	24	33				
ATP6V0A1	535	broad.mit.edu	37	17	40629708	40629708	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40629708T>C	ENST00000343619.4	+	6	577	c.454T>C	c.(454-456)Tca>Cca	p.S152P	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S159P|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S152P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	152					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGAAGAGTCCTCATCCCTCTT	0.443																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(454-456)Tca>Cca		ATPase, H+ transporting, lysosomal V0 subunit a1							159.0	134.0	142.0					17																	40629708		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40629708T>C	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.454T>C	17.37:g.40629708T>C	ENSP00000342951:p.Ser152Pro					ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S152P|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S109P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S159P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S109P	p.S152P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	6	577	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	152					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.454T>C	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186091	0.57909	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.77712	2.385	0.80722	D	1	P;P;B;P;P	0.52463	0.85;0.953;0.001;0.904;0.903	P;P;B;P;P	0.59825	0.658;0.864;0.009;0.807;0.857	D	0.89927	0.4063	10	0.19590	T	0.45	-10.2596	16.5724	0.84622	0.0:0.0:0.0:1.0	.	109;109;159;152;152	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	P	152;152;152;159;109	ENSP00000342951:S152P;ENSP00000444676:S152P;ENSP00000377415:S152P;ENSP00000264649:S159P;ENSP00000443991:S109P	ENSP00000264649:S159P	S	+	1	0	ATP6V0A1	37883234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.015000	0.57152	2.313000	0.78055	0.455000	0.32223	TCA		0.443	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		18	41	0	0	0	1	0	18	41				
SLC6A7	6534	broad.mit.edu	37	5	149576691	149576691	+	Missense_Mutation	SNP	G	G	A	rs142334935		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149576691G>A	ENST00000230671.2	+	4	807	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A146T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	146					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTACCTCTTCGCCTCCCTCAC	0.612																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(436-438)Gcc>Acc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)	G	THR/ALA	0,4406		0,0,2203	127.0	112.0	117.0		436	5.4	1.0	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A7	NM_014228.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	146/637	149576691	1,13005	2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576691G>A	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.436G>A	5.37:g.149576691G>A	ENSP00000230671:p.Ala146Thr					SLC6A7_ENST00000524041.1_Missense_Mutation_p.A146T	p.A146T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	807	+		all_hematologic(541;0.224)	146					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.436G>A	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436373	0.83885	0.0	1.16E-4	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.74315	-0.83;-0.83	5.39	5.39	0.77823	.	0.094927	0.64402	D	0.000001	D	0.83963	0.5368	M	0.72353	2.195	0.47511	D	0.999445	D	0.57571	0.98	P	0.58210	0.835	D	0.85623	0.1265	10	0.72032	D	0.01	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	146	Q99884	SC6A7_HUMAN	T	146	ENSP00000230671:A146T;ENSP00000428200:A146T	ENSP00000230671:A146T	A	+	1	0	SLC6A7	149556884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.708000	0.54845	2.534000	0.85438	0.655000	0.94253	GCC		0.612	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		18	26	0	0	0	1	0	18	26				
ZNF598	90850	broad.mit.edu	37	16	2051609	2051609	+	Missense_Mutation	SNP	G	G	A	rs370369920		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2051609G>A	ENST00000563630.1	-	6	1065	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	ZNF598_ENST00000562103.1_Missense_Mutation_p.R275C|ZNF598_ENST00000431526.1_Missense_Mutation_p.R330C			Q86UK7	ZN598_HUMAN	zinc finger protein 598	330							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTTCCTCGGCGGCTCTGCTGG	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15770	0.0		0.0	False		,,,				2504	0.0					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(823-825)Cgc>Tgc		zinc finger protein 598		G	CYS/ARG	1,4237		0,1,2118	34.0	43.0	40.0		990	5.4	1.0	16		40	0,8466		0,0,4233	no	missense	ZNF598	NM_178167.2	180	0,1,6351	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging	330/905	2051609	1,12703	2119	4233	6352	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2051609G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.823C>T	16.37:g.2051609G>A	ENSP00000455882:p.Arg275Cys					ZNF598_ENST00000431526.1_Missense_Mutation_p.R330C|ZNF598_ENST00000562103.1_Missense_Mutation_p.R275C	p.R275C			Q86UK7	ZN598_HUMAN			6	1065	-			330					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.823C>T		.	.	.	.	.	.	.	.	.	.	.	20.4	3.988281	0.74589	2.36E-4	0.0	ENSG00000167962	ENST00000431526	T	0.15017	2.46	5.41	5.41	0.78517	.	0.125602	0.47455	D	0.000240	T	0.30572	0.0769	L	0.36672	1.1	0.51482	D	0.999924	D	0.89917	1.0	D	0.77004	0.989	T	0.01520	-1.1334	10	0.72032	D	0.01	-39.5462	11.9244	0.52810	0.0:0.0:0.7237:0.2763	.	330	Q86UK7	ZN598_HUMAN	C	330	ENSP00000411409:R330C	ENSP00000411409:R330C	R	-	1	0	ZNF598	1991610	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.934000	0.48956	2.531000	0.85337	0.655000	0.94253	CGC		0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	14	0	0	0	1	0	3	14				
TEP1	7011	broad.mit.edu	37	14	20871916	20871916	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20871916G>A	ENST00000262715.5	-	6	1200	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	387	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGTCTCTTGGCCCGGTGCTT	0.637																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1159-1161)gCc>gTc		telomerase-associated protein 1							73.0	83.0	79.0					14																	20871916		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871916G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1160C>T	14.37:g.20871916G>A	ENSP00000262715:p.Ala387Val					TEP1_ENST00000556935.1_Intron	p.A387V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1200	-	all_cancers(95;0.00123)	all_lung(585;0.235)	387			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1160C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473198	0.84640	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.14766	2.48	5.54	5.54	0.83059	TROVE (2);	0.187674	0.45126	D	0.000392	T	0.31009	0.0783	M	0.68952	2.095	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.00891	-1.1525	10	0.59425	D	0.04	-13.2582	13.1421	0.59440	0.0:0.2712:0.7288:0.0	.	387	Q99973	TEP1_HUMAN	V	387	ENSP00000262715:A387V	ENSP00000262715:A387V	A	-	2	0	TEP1	19941756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.390000	0.52523	2.601000	0.87937	0.655000	0.94253	GCC		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		27	42	0	0	0	1	0	27	42				
RIPK4	54101	broad.mit.edu	37	21	43161904	43161904	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43161904C>T	ENST00000352483.2	-	9	1657	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	RIPK4_ENST00000332512.3_Silent_p.V483V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V420V|RIPK4_ENST00000542057.1_Silent_p.V420V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	531					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGACACCCCGCACCCTCCTCT	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1591-1593)gtG>gtA		receptor-interacting serine-threonine kinase 4							96.0	84.0	89.0					21																	43161904		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161904C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1593G>A	21.37:g.43161904C>T						RIPK4_ENST00000332512.3_Silent_p.V483V|RIPK4_ENST00000542057.1_Silent_p.V420V|RIPK4_ENST00000544709.1_Silent_p.V420V	p.V531V			Q96T11	Q96T11_HUMAN			9	1657	-			483					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1593G>A																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		33	15	0	0	0	1	0	33	15				
HSD3B2	3284	broad.mit.edu	37	1	119964755	119964755	+	Missense_Mutation	SNP	C	C	A	rs143038843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119964755C>A	ENST00000543831.1	+	4	880	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	HSD3B2_ENST00000369416.3_Missense_Mutation_p.L211M	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	211					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CAATGGGATCCTGTCAAGTGT	0.507																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(631-633)Ctg>Atg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						74.0	72.0	73.0					1																	119964755		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964755C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.631C>A	1.37:g.119964755C>A	ENSP00000445122:p.Leu211Met					HSD3B2_ENST00000369416.3_Missense_Mutation_p.L211M	p.L211M	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	880	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	211					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.631C>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	9.835	1.189432	0.21954	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.84800	-1.9;-1.9	3.98	0.621	0.17643	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.389861	0.26435	N	0.024389	T	0.77089	0.4079	M	0.73598	2.24	0.35143	D	0.769033	P	0.41848	0.763	P	0.46389	0.515	T	0.72554	-0.4258	9	.	.	.	-16.7399	4.5678	0.12195	0.3105:0.5148:0.0:0.1747	.	211	P26439	3BHS2_HUMAN	M	211	ENSP00000445122:L211M;ENSP00000358424:L211M	.	L	+	1	2	HSD3B2	119766278	0.686000	0.27661	0.078000	0.20375	0.050000	0.14768	0.263000	0.18478	0.639000	0.30564	0.298000	0.19748	CTG		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		20	58	1	0	1.96292e-10	1	2.09789e-10	20	58				
GREB1	9687	broad.mit.edu	37	2	11721028	11721028	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11721028G>A	ENST00000381486.2	+	7	1201				GREB1_ENST00000389825.3_Missense_Mutation_p.G214E|GREB1_ENST00000381483.2_Intron|GREB1_ENST00000263834.5_Intron|GREB1_ENST00000234142.5_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGGCATGGGAGCTGCTGGG	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000389825.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(640-642)gGa>gAa		growth regulation by estrogen in breast cancer 1																																				SO:0001627	intron_variant	9687					integral to membrane		g.chr2:11721028G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.901+70G>A	2.37:g.11721028G>A						GREB1_ENST00000234142.5_Intron|GREB1_ENST00000263834.5_Intron|GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron	p.G214E			Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	6	952	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		0					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.641G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985078	0.35036	.	.	ENSG00000196208	ENST00000389825	T	0.53640	0.61	3.64	-0.286	0.12862	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.19300	N	0.999975	B	0.20887	0.049	B	0.20384	0.029	T	0.19910	-1.0291	7	.	.	.	.	3.6254	0.08111	0.333:0.1903:0.4767:0.0	.	214	F8W6E5	.	E	214	ENSP00000374475:G214E	.	G	+	2	0	GREB1	11638479	0.001000	0.12720	0.005000	0.12908	0.120000	0.20174	0.251000	0.18257	-0.069000	0.12931	-0.291000	0.09656	GGA		0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	10	0	0	0	1	0	6	10				
ZNF839	55778	broad.mit.edu	37	14	102798054	102798054	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102798054C>T	ENST00000558850.1	+	3	1289	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ZNF839_ENST00000559185.1_Silent_p.R313R|ZNF839_ENST00000442396.2_Silent_p.R429R|ZNF839_ENST00000262236.5_Silent_p.R313R	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	313							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTAGAAGACGCGCATGCTCAG	0.552																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(937-939)cgC>cgT		zinc finger protein 839							51.0	51.0	51.0					14																	102798054		2003	4173	6176	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102798054C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.939C>T	14.37:g.102798054C>T						ZNF839_ENST00000442396.2_Silent_p.R429R|ZNF839_ENST00000559185.1_Silent_p.R313R|ZNF839_ENST00000558850.1_Silent_p.R313R	p.R313R	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			3	1294	+			313					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.939C>T	CCDS58336.1																																																																																				0.552	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	8	0	0	0	1	0	4	8				
PTGS2	5743	broad.mit.edu	37	1	186648454	186648454	+	Splice_Site	SNP	G	G	A	rs373745396		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186648454G>A	ENST00000367468.5	-	2	305	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	57					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	ACAAACTTACGTGTTGAGCAG	0.433																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.e2+1		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	G	SER/PRO	0,4406		0,0,2203	135.0	113.0	120.0		169	5.3	1.0	1		120	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PTGS2	NM_000963.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	57/605	186648454	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648454G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.169+1C>T	1.37:g.186648454G>A						PTGS2_ENST00000490885.2_5'UTR	p.P57_splice	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			2	305	-			57					A8K802|Q16876	Splice_Site	SNP	ENST00000367468.5	37	c.169_splice	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106189	0.94292	0.0	1.16E-4	ENSG00000073756	ENST00000367468	T	0.73152	-0.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	L	0.55743	1.74	0.80722	D	1	D	0.55605	0.972	P	0.45167	0.472	T	0.71666	-0.4524	9	.	.	.	-16.5824	18.5108	0.90916	0.0:0.0:1.0:0.0	.	57	P35354	PGH2_HUMAN	S	57	ENSP00000356438:P57S	.	P	-	1	0	PTGS2	184915077	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.749000	0.85096	2.444000	0.82710	0.655000	0.94253	CCG		0.433	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	Missense_Mutation	19	23	0	0	0	1	0	19	23				
RNF20	56254	broad.mit.edu	37	9	104314442	104314442	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104314442G>A	ENST00000389120.3	+	12	1518	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	476					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACAGGGAGATGCGCCACCTCA	0.478																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1426-1428)atG>atA		ring finger protein 20, E3 ubiquitin protein ligase							99.0	95.0	96.0					9																	104314442		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314442G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1428G>A	9.37:g.104314442G>A	ENSP00000373772:p.Met476Ile						p.M476I	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1518	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	476					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1428G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519404	0.64634	.	.	ENSG00000155827	ENST00000389120	T	0.32515	1.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.56199	1.76	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.11665	-1.0578	10	0.39692	T	0.17	-23.0907	20.4745	0.99168	0.0:0.0:1.0:0.0	.	476	Q5VTR2	BRE1A_HUMAN	I	476	ENSP00000373772:M476I	ENSP00000373772:M476I	M	+	3	0	RNF20	103354263	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ATG		0.478	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		38	35	0	0	0	1	0	38	35				
TRPV3	162514	broad.mit.edu	37	17	3435992	3435992	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3435992G>T	ENST00000576742.1	-	8	1345	c.1024C>A	c.(1024-1026)Ctc>Atc	p.L342I	TRPV3_ENST00000572519.1_Missense_Mutation_p.L342I|TRPV3_ENST00000301365.4_Missense_Mutation_p.L342I	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	342					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGCGGCGTGAGGCCATCGTTG	0.627																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1024-1026)Ctc>Atc		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						112.0	84.0	94.0					17																	3435992		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3435992G>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1024C>A	17.37:g.3435992G>T	ENSP00000461518:p.Leu342Ile					TRPV3_ENST00000572519.1_Missense_Mutation_p.L342I|TRPV3_ENST00000576742.1_Missense_Mutation_p.L342I	p.L342I			Q8NET8	TRPV3_HUMAN			8	1155	-			342					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1024C>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386620	0.61956	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.64803	-0.12	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000018	T	0.80914	0.4715	M	0.88031	2.925	0.42210	D	0.991801	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;0.995;0.996;0.998	D;D;D;D;P;D;D	0.87578	0.996;0.991;0.998;0.991;0.861;0.941;0.996	D	0.83927	0.0304	10	0.72032	D	0.01	-16.4272	11.7404	0.51790	0.0899:0.0:0.9101:0.0	.	326;326;342;326;342;342;342	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	I	342;342;326	ENSP00000301365:L342I	ENSP00000301365:L342I	L	-	1	0	TRPV3	3382742	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	1.690000	0.37711	2.654000	0.90174	0.561000	0.74099	CTC		0.627	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		10	18	1	0	1.58986e-06	1	1.65464e-06	10	18				
NBPF1	55672	broad.mit.edu	37	1	16893834	16893834	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893834C>A	ENST00000430580.2	-	25	3566	c.2679G>T	c.(2677-2679)gaG>gaT	p.E893D	NBPF1_ENST00000432949.1_Missense_Mutation_p.A297S|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	893	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCCAGCAGCTCCCTGCTGA	0.483																																						ENST00000430580.2																			0											c.(2677-2679)gaG>gaT		neuroblastoma breakpoint family, member 1							269.0	247.0	255.0					1																	16893834		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893834C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2679G>T	1.37:g.16893834C>A	ENSP00000474456:p.Glu893Asp					NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Missense_Mutation_p.A297S	p.E893D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3566	-			893			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2679G>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		48	2204	1	0	0.146539	1	0.147128	48	2204				
L1TD1	54596	broad.mit.edu	37	1	62672630	62672630	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62672630A>G	ENST00000498273.1	+	3	625	c.330A>G	c.(328-330)ttA>ttG	p.L110L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	110										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						atttagcattacaaaaaacag	0.333																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(328-330)ttA>ttG		LINE-1 type transposase domain containing 1							65.0	77.0	73.0					1																	62672630		2171	4288	6459	SO:0001819	synonymous_variant	54596							g.chr1:62672630A>G	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.330A>G	1.37:g.62672630A>G							p.L110L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			3	625	+			110					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.330A>G	CCDS619.1																																																																																				0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		20	46	0	0	0	1	0	20	46				
RNF14	9604	broad.mit.edu	37	5	141364434	141364434	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141364434G>A	ENST00000394520.2	+	8	1612	c.1303G>A	c.(1303-1305)Ggt>Agt	p.G435S	RNF14_ENST00000394515.3_Missense_Mutation_p.G259S|RNF14_ENST00000356143.1_Missense_Mutation_p.G435S|RNF14_ENST00000540015.1_Missense_Mutation_p.G132S|RNF14_ENST00000394514.2_Missense_Mutation_p.G309S|RNF14_ENST00000347642.3_Missense_Mutation_p.G435S|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Missense_Mutation_p.G435S	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	435	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATTTGCATGGGTTCTCTCTC	0.403																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1303-1305)Ggt>Agt		ring finger protein 14							135.0	124.0	128.0					5																	141364434		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141364434G>A	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1303G>A	5.37:g.141364434G>A	ENSP00000378028:p.Gly435Ser					RNF14_ENST00000394514.2_Missense_Mutation_p.G309S|RNF14_ENST00000394519.1_Missense_Mutation_p.G435S|RNF14_ENST00000347642.3_Missense_Mutation_p.G435S|RNF14_ENST00000540015.1_Missense_Mutation_p.G132S|RNF14_ENST00000356143.1_Missense_Mutation_p.G435S|RNF14_ENST00000394515.3_Missense_Mutation_p.G259S	p.G435S	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	8	1612	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	435			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.1303G>A	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536039	0.45176	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.4	3.61	0.41365	Zinc finger, C6HC-type (2);	0.142087	0.64402	N	0.000005	T	0.70176	0.3194	L	0.38953	1.18	0.58432	D	0.999999	B;B;B	0.22683	0.027;0.073;0.005	B;B;B	0.24701	0.055;0.03;0.012	T	0.59794	-0.7387	10	0.18276	T	0.48	.	11.0767	0.48036	0.07:0.1292:0.8008:0.0	.	132;259;435	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	S	435;435;435;132;309;132;259;435	ENSP00000348462:G435S;ENSP00000378028:G435S;ENSP00000324956:G435S;ENSP00000442490:G132S;ENSP00000378022:G309S;ENSP00000426832:G132S;ENSP00000378023:G259S;ENSP00000378027:G435S	ENSP00000324956:G435S	G	+	1	0	RNF14	141344618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.710000	0.61873	0.644000	0.30656	0.484000	0.47621	GGT		0.403	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		34	69	0	0	0	1	0	34	69				
ZIC3	7547	broad.mit.edu	37	X	136649562	136649562	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:136649562G>A	ENST00000287538.5	+	1	1262	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ZIC3_ENST00000370606.3_Missense_Mutation_p.A238T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	238					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGGCCCGGCGCCTTCTTCCG	0.642																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(712-714)Gcc>Acc		Zic family member 3							30.0	33.0	32.0					X																	136649562		2188	4285	6473	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649562G>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.712G>A	X.37:g.136649562G>A	ENSP00000287538:p.Ala238Thr					ZIC3_ENST00000370606.3_Missense_Mutation_p.A238T	p.A238T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1262	+	Acute lymphoblastic leukemia(192;0.000127)		238					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.712G>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.950574	0.73787	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.47528	0.84;0.84	4.58	4.58	0.56647	.	0.056975	0.64402	D	0.000002	T	0.72078	0.3416	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.79269	-0.1873	10	0.87932	D	0	.	15.0189	0.71613	0.0:0.0:1.0:0.0	.	238	O60481	ZIC3_HUMAN	T	238	ENSP00000287538:A238T;ENSP00000359638:A238T	ENSP00000287538:A238T	A	+	1	0	ZIC3	136477228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.254000	0.95512	2.100000	0.63781	0.597000	0.82753	GCC		0.642	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			14	2	0	0	0	1	0	14	2				
CRYGN	155051	broad.mit.edu	37	7	151135186	151135186	+	Missense_Mutation	SNP	C	C	T	rs147779621	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151135186C>T	ENST00000337323.2	-	2	292	c.166G>A	c.(166-168)Gac>Aac	p.D56N	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.D56N	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	56	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAAGTCGGGGTGATTG	0.607													C|||	3	0.000599042	0.0015	0.0	5008	,	,		17042	0.0		0.0	False		,,,				2504	0.001					ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(166-168)Gac>Aac		crystallin, gamma N		C	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	67.0	65.0	66.0		166	2.2	0.8	7	dbSNP_134	66	0,8600		0,0,4300	no	missense	CRYGN	NM_144727.1	23	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	56/183	151135186	4,13002	2203	4300	6503	SO:0001583	missense	155051							g.chr7:151135186C>T	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.166G>A	7.37:g.151135186C>T	ENSP00000338613:p.Asp56Asn					RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	p.D56N	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	292	-			56			Beta/gamma crystallin 'Greek key' 2.		Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.166G>A	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	C	5.350	0.249911	0.10130	9.08E-4	0.0	ENSG00000127377	ENST00000337323	T	0.72725	-0.68	5.05	2.23	0.28157	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.093973	0.64402	D	0.000001	T	0.38161	0.1030	N	0.08118	0	0.45867	D	0.99872	P;P	0.51351	0.944;0.635	B;B	0.36378	0.223;0.14	T	0.52064	-0.8625	10	0.02654	T	1	.	9.99	0.41865	0.0:0.7729:0.0:0.2271	.	56;56	Q8WXF5-2;Q8WXF5	.;CRGN_HUMAN	N	56	ENSP00000338613:D56N	ENSP00000338613:D56N	D	-	1	0	CRYGN	150766119	0.725000	0.28048	0.756000	0.31282	0.554000	0.35429	1.448000	0.35112	0.532000	0.28657	-0.448000	0.05591	GAC		0.607	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			27	18	0	0	0	1	0	27	18				
CAPN15	6650	broad.mit.edu	37	16	602481	602481	+	Silent	SNP	C	C	T	rs146988309	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:602481C>T	ENST00000219611.2	+	11	3051	c.2688C>T	c.(2686-2688)tgC>tgT	p.C896C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	896					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGTGTGCTGCGCCTTCAACC	0.711													c|||	3	0.000599042	0.0	0.0	5008	,	,		11881	0.001		0.001	False		,,,				2504	0.001					ENST00000219611.2																			0											c.(2686-2688)tgC>tgT		calpain 15		C		0,4322		0,0,2161	17.0	23.0	21.0		2688	1.5	1.0	16	dbSNP_134	21	3,8557		0,3,4277	no	coding-synonymous	SOLH	NM_005632.2		0,3,6438	TT,TC,CC		0.035,0.0,0.0233		896/1087	602481	3,12879	2161	4280	6441	SO:0001819	synonymous_variant	6650							g.chr16:602481C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2688C>T	16.37:g.602481C>T						LA16c-366D1.3_ENST00000565879.1_RNA	p.C896C	NM_005632.2	NP_005623.1					11	3051	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.2688C>T	CCDS10410.1																																																																																				0.711	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	19	0	0	0	1	0	8	19				
PCDH1	5097	broad.mit.edu	37	5	141248331	141248331	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141248331C>T	ENST00000394536.3	-	2	845	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	PCDH1_ENST00000456271.1_Missense_Mutation_p.G224S|PCDH1_ENST00000536585.1_Missense_Mutation_p.G214S|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Missense_Mutation_p.G236S|PCDH1_ENST00000503492.1_Missense_Mutation_p.G236S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCAGGTTGCCCATCACAATG	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(706-708)Ggc>Agc		protocadherin 1							97.0	87.0	90.0					5																	141248331		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248331C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.706G>A	5.37:g.141248331C>T	ENSP00000378043:p.Gly236Ser					PCDH1_ENST00000536585.1_Missense_Mutation_p.G214S|PCDH1_ENST00000394536.3_Missense_Mutation_p.G236S|PCDH1_ENST00000503492.1_Missense_Mutation_p.G236S|PCDH1_ENST00000456271.1_Missense_Mutation_p.G224S	p.G236S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	853	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	236			Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.706G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300772	0.81136	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000070	T	0.63260	0.2496	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.63616	-0.6597	10	0.49607	T	0.09	.	15.0446	0.71816	0.0:1.0:0.0:0.0	.	236;236	Q08174;Q08174-2	PCDH1_HUMAN;.	S	236;236;236;224;247;214	ENSP00000424667:G236S;ENSP00000287008:G236S;ENSP00000378043:G236S;ENSP00000403497:G224S;ENSP00000350122:G247S;ENSP00000438825:G214S	ENSP00000287008:G236S	G	-	1	0	PCDH1	141228515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.531000	0.45650	2.486000	0.83907	0.550000	0.68814	GGC		0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		19	15	0	0	0	1	0	19	15				
LYN	4067	broad.mit.edu	37	8	56863270	56863270	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:56863270C>T	ENST00000519728.1	+	6	710	c.414C>T	c.(412-414)gaC>gaT	p.D138D	LYN_ENST00000520220.2_Silent_p.D117D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCAGGAAGGACGCAGAAAGGC	0.383																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(349-351)gaC>gaT		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							105.0	113.0	110.0					8																	56863270		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863270C>T	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.414C>T	8.37:g.56863270C>T						LYN_ENST00000519728.1_Silent_p.D138D	p.D117D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		6	625	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	138			SH3.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.351C>T	CCDS6162.1																																																																																				0.383	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		27	36	0	0	0	1	0	27	36				
RELB	5971	broad.mit.edu	37	19	45515383	45515383	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45515383C>T	ENST00000221452.8	+	4	503	c.353C>T	c.(352-354)gCg>gTg	p.A118V	RELB_ENST00000540120.1_Missense_Mutation_p.A118V|RELB_ENST00000505236.1_Missense_Mutation_p.A115V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	118					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GTGTCCCCAGCGCCGGGCCCG	0.776																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(352-354)gCg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog B							5.0	6.0	6.0					19																	45515383		1662	3554	5216	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45515383C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.353C>T	19.37:g.45515383C>T	ENSP00000221452:p.Ala118Val					RELB_ENST00000540120.1_Missense_Mutation_p.A118V|RELB_ENST00000505236.1_Missense_Mutation_p.A115V	p.A118V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	4	503	+		Ovarian(192;0.0728)|all_neural(266;0.112)	118					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.353C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	8.071	0.770223	0.15983	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.48201	0.83;0.83;0.82	2.52	2.52	0.30459	.	1.377230	0.04843	N	0.440872	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	P	0.36438	0.553	B	0.24701	0.055	T	0.12863	-1.0531	10	0.32370	T	0.25	-6.5569	8.6823	0.34216	0.0:1.0:0.0:0.0	.	115	D6R992	.	V	118;118;115	ENSP00000221452:A118V;ENSP00000445542:A118V;ENSP00000423287:A115V	ENSP00000221452:A118V	A	+	2	0	RELB	50207223	0.000000	0.05858	0.019000	0.16419	0.010000	0.07245	0.266000	0.18534	1.739000	0.51704	0.462000	0.41574	GCG		0.776	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			4	15	0	0	0	1	0	4	15				
IL16	3603	broad.mit.edu	37	15	81592597	81592597	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81592597C>T	ENST00000302987.4	+	13	2930	c.2930C>T	c.(2929-2931)aCg>aTg	p.T977M	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.T276M|IL16_ENST00000394660.2_Missense_Mutation_p.T977M			Q14005	IL16_HUMAN	interleukin 16	977					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTGTGAGACGAAGCTACTT	0.532																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2929-2931)aCg>aTg		interleukin 16							88.0	76.0	80.0					15																	81592597		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592597C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2930C>T	15.37:g.81592597C>T	ENSP00000302935:p.Thr977Met					IL16_ENST00000302987.4_Missense_Mutation_p.T977M|IL16_ENST00000394652.2_Missense_Mutation_p.T276M	p.T977M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3290	+			977					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2930C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646083	0.03531	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.09817	2.94;2.94;3.52	5.0	2.78	0.32641	.	0.734238	0.12100	N	0.499566	T	0.03305	0.0096	N	0.02011	-0.69	0.23611	N	0.997298	B;B;B;B;B;B	0.22541	0.006;0.04;0.009;0.071;0.004;0.05	B;B;B;B;B;B	0.09377	0.004;0.004;0.001;0.002;0.002;0.004	T	0.42565	-0.9444	10	0.27082	T	0.32	.	2.8859	0.05661	0.0:0.3109:0.2438:0.4453	.	809;470;514;367;977;977	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	M	977;809;977;514;367;276;276	ENSP00000378155:T977M;ENSP00000302935:T977M;ENSP00000378147:T276M	ENSP00000302935:T977M	T	+	2	0	IL16	79379652	0.779000	0.28652	0.004000	0.12327	0.132000	0.20833	0.950000	0.29122	0.337000	0.23665	0.655000	0.94253	ACG		0.532	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		10	17	0	0	0	1	0	10	17				
CRIM1	51232	broad.mit.edu	37	2	36704095	36704095	+	Missense_Mutation	SNP	A	A	G	rs150977654	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:36704095A>G	ENST00000280527.2	+	6	1422	c.1055A>G	c.(1054-1056)gAc>gGc	p.D352G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	352	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTTCGAATGGACAACTGTCGG	0.463													A|||	2	0.000399361	0.0015	0.0	5008	,	,		20267	0.0		0.0	False		,,,				2504	0.0					ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1054-1056)gAc>gGc		cysteine rich transmembrane BMP regulator 1 (chordin-like)		A	GLY/ASP	3,4403	6.2+/-15.9	0,3,2200	162.0	153.0	156.0		1055	6.2	1.0	2	dbSNP_134	156	0,8600		0,0,4300	no	missense	CRIM1	NM_016441.2	94	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	benign	352/1037	36704095	3,13003	2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704095A>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1055A>G	2.37:g.36704095A>G	ENSP00000280527:p.Asp352Gly						p.D352G	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			6	1422	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	352			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1055A>G	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.000767	0.93227	6.81E-4	0.0	ENSG00000150938	ENST00000280527	T	0.68903	-0.36	6.17	6.17	0.99709	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80377	-0.1408	10	0.52906	T	0.07	-22.319	16.0034	0.80327	1.0:0.0:0.0:0.0	.	352	Q9NZV1	CRIM1_HUMAN	G	352	ENSP00000280527:D352G	ENSP00000280527:D352G	D	+	2	0	CRIM1	36557599	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.194000	0.94962	2.371000	0.80710	0.533000	0.62120	GAC		0.463	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		39	42	0	0	0	1	0	39	42				
SPTY2D1	144108	broad.mit.edu	37	11	18637333	18637333	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18637333G>A	ENST00000336349.5	-	3	723	c.488C>T	c.(487-489)gCc>gTc	p.A163V	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	163										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGGTGGTGGGGCACTTTTAAG	0.468																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(487-489)gCc>gTc		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							102.0	103.0	103.0					11																	18637333		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637333G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.488C>T	11.37:g.18637333G>A	ENSP00000337991:p.Ala163Val					SPTY2D1_ENST00000543776.1_5'UTR	p.A163V	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	723	-			163					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.488C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058319	0.76074	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26957	1.7	5.63	5.63	0.86233	.	0.059077	0.64402	D	0.000003	T	0.46619	0.1402	L	0.60455	1.87	0.50467	D	0.99987	D	0.89917	1.0	D	0.69654	0.965	T	0.33059	-0.9883	10	0.56958	D	0.05	-9.4326	15.1911	0.73044	0.0:0.1405:0.8595:0.0	.	163	Q68D10	SPT2_HUMAN	V	163	ENSP00000337991:A163V	ENSP00000331447:A163V	A	-	2	0	SPTY2D1	18593909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.737000	0.84957	2.648000	0.89879	0.563000	0.77884	GCC		0.468	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		4	74	0	0	0	1	0	4	74				
KIF2B	84643	broad.mit.edu	37	17	51900983	51900983	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51900983C>T	ENST00000268919.4	+	1	745	c.589C>T	c.(589-591)Cac>Tac	p.H197Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	197					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATCGCAGGCACCTGGACAG	0.572																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(589-591)Cac>Tac		kinesin family member 2B							76.0	64.0	68.0					17																	51900983		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900983C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.589C>T	17.37:g.51900983C>T	ENSP00000268919:p.His197Tyr						p.H197Y	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	745	+			197					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.589C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190721	0.38707	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.16457	2.34	5.37	3.21	0.36854	.	0.804699	0.10824	N	0.630175	T	0.18299	0.0439	L	0.39898	1.24	0.23776	N	0.996872	P	0.35745	0.518	B	0.39299	0.296	T	0.18053	-1.0349	10	0.72032	D	0.01	.	10.5198	0.44912	0.1342:0.6042:0.2616:0.0	.	197	Q8N4N8	KIF2B_HUMAN	Y	197;120	ENSP00000268919:H197Y	ENSP00000268919:H197Y	H	+	1	0	KIF2B	49255982	0.416000	0.25424	0.867000	0.34043	0.724000	0.41520	0.902000	0.28459	1.345000	0.45676	0.655000	0.94253	CAC		0.572	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	19	0	0	0	1	0	10	19				
AHNAK	79026	broad.mit.edu	37	11	62284495	62284495	+	Silent	SNP	C	C	T	rs570830533		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62284495C>T	ENST00000378024.4	-	5	17668	c.17394G>A	c.(17392-17394)acG>acA	p.T5798T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5798					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAAACTCCAGCGTCCCCGTCG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17392-17394)acG>acA		AHNAK nucleoprotein							90.0	93.0	92.0					11																	62284495		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284495C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17394G>A	11.37:g.62284495C>T						AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T5798T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17668	-		Melanoma(852;0.155)	5798					A1A586	Silent	SNP	ENST00000378024.4	37	c.17394G>A	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	47	0	0	0	1	0	31	47				
SIPA1	6494	broad.mit.edu	37	11	65417640	65417640	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65417640G>T	ENST00000394224.3	+	14	3176	c.2880G>T	c.(2878-2880)aaG>aaT	p.K960N	SIPA1_ENST00000394227.3_Missense_Mutation_p.K858N|SIPA1_ENST00000527525.1_Missense_Mutation_p.K858N|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.K960N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	960					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGACCCTAAGGGAACTCCAA	0.607																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2878-2880)aaG>aaT		signal-induced proliferation-associated 1							91.0	91.0	91.0					11																	65417640		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417640G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2880G>T	11.37:g.65417640G>T	ENSP00000377771:p.Lys960Asn					SIPA1_ENST00000534313.1_Missense_Mutation_p.K960N|SIPA1_ENST00000394227.3_Missense_Mutation_p.K858N|SIPA1_ENST00000527525.1_Missense_Mutation_p.K858N	p.K960N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			14	3176	+			960					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.2880G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172386	0.57584	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.18	4.18	0.49190	.	0.913402	0.08961	U	0.868692	T	0.75882	0.3910	L	0.36672	1.1	0.29871	N	0.826863	P;B	0.36535	0.557;0.319	B;B	0.32864	0.154;0.111	T	0.70238	-0.4927	10	0.44086	T	0.13	-29.3118	11.9895	0.53168	0.0:0.0:1.0:0.0	.	858;960	F6RY50;Q96FS4	.;SIPA1_HUMAN	N	960;858;960;858	ENSP00000436269:K960N;ENSP00000433686:K858N;ENSP00000377771:K960N;ENSP00000377774:K858N	ENSP00000377771:K960N	K	+	3	2	SIPA1	65174216	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.215000	0.32431	1.879000	0.54435	0.313000	0.20887	AAG		0.607	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		4	66	1	0	2.56e-06	1	2.66106e-06	4	66				
TCEB3C	162699	broad.mit.edu	37	18	44555268	44555268	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555268C>A	ENST00000330682.2	-	1	1181	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	316	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTAGCGTTCACTCTGCGTCCA	0.642																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(946-948)Gtg>Ttg		transcription elongation factor B polypeptide 3C (elongin A3)							222.0	230.0	227.0					18																	44555268		1905	3725	5630	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555268C>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.946G>T	18.37:g.44555268C>A	ENSP00000328232:p.Val316Leu					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.V316L	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1181	-			316			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.946G>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.698847	0.00725	.	.	ENSG00000183791	ENST00000330682	T	0.10099	2.91	1.1	-1.26	0.09376	.	1.560830	0.04245	N	0.337565	T	0.05181	0.0138	N	0.13140	0.3	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33292	-0.9874	10	0.07325	T	0.83	-2.4254	3.5686	0.07909	0.0:0.4301:0.0:0.5699	.	316	Q8NG57	ELOA3_HUMAN	L	316	ENSP00000328232:V316L	ENSP00000328232:V316L	V	-	1	0	TCEB3C	42809266	0.010000	0.17322	0.001000	0.08648	0.002000	0.02628	-0.364000	0.07583	-0.329000	0.08527	0.485000	0.47835	GTG		0.642	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		16	761	1	0	7.41877e-09	1	7.84611e-09	16	761				
PSG9	5678	broad.mit.edu	37	19	43766195	43766195	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43766195C>T	ENST00000270077.3	-	3	622	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.A176T|PSG9_ENST00000244293.7_Missense_Mutation_p.A176T|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	176	Ig-like C2-type 1.		A -> T (in dbSNP:rs1058085).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGTAGCTTGCGTCCAGAGTC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(526-528)Gca>Aca		pregnancy specific beta-1-glycoprotein 9							244.0	237.0	239.0					19																	43766195		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766195C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.526G>A	19.37:g.43766195C>T	ENSP00000270077:p.Ala176Thr					PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.A176T|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.A176T	p.A176T			Q00887	PSG9_HUMAN			3	592	-		Prostate(69;0.00682)	176		A -> T (in dbSNP:rs1058085).	Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.526G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.537949	0.00942	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.12465	2.68;2.68	2.12	-2.91	0.05631	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03739	0.0106	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.29085	0.069;0.232;0.089	B;B;B	0.29267	0.1;0.089;0.08	T	0.39251	-0.9623	9	0.02654	T	1	.	3.1105	0.06356	0.0:0.4122:0.2622:0.3257	.	176;176;176	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	T	176;137;176	ENSP00000270077:A176T;ENSP00000244293:A176T	ENSP00000244293:A176T	A	-	1	0	PSG9	48458035	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.520000	0.02241	-0.087000	0.12528	0.194000	0.17425	GCA		0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	201	0	0	0	1	0	8	201				
BCAT2	587	broad.mit.edu	37	19	49309972	49309972	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49309972A>G	ENST00000316273.6	-	3	114	c.102T>C	c.(100-102)gcT>gcC	p.A34A	BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000598162.1_Silent_p.A34A	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	34					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.A35fs*7(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GCAGGTCTGCAGCCTGAGGAA	0.547																																						ENST00000316273.6																			1	Deletion - Frameshift(1)	p.A35fs*7(1)	ovary(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(100-102)gcT>gcC		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						53.0	54.0	54.0					19																	49309972		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49309972A>G	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.102T>C	19.37:g.49309972A>G						BCAT2_ENST00000598162.1_Silent_p.A34A|BCAT2_ENST00000597011.1_5'UTR|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000402551.1_5'UTR|BCAT2_ENST00000599246.1_Intron	p.A34A	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	3	114	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	34					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.102T>C	CCDS12735.1																																																																																				0.547	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			22	22	0	0	0	1	0	22	22				
NOM1	64434	broad.mit.edu	37	7	156754894	156754894	+	Missense_Mutation	SNP	G	G	A	rs375066764		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156754894G>A	ENST00000275820.3	+	5	1697	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	561						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R561H(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATGACATGCGCAAAATTCCA	0.433																																						ENST00000275820.3																			1	Substitution - Missense(1)	p.R561H(1)	prostate(1)	endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1681-1683)cGc>cAc		nucleolar protein with MIF4G domain 1		G	HIS/ARG	0,4406		0,0,2203	206.0	205.0	205.0		1682	4.5	1.0	7		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOM1	NM_138400.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	561/861	156754894	1,13005	2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156754894G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1682G>A	7.37:g.156754894G>A	ENSP00000275820:p.Arg561His						p.R561H	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	5	1697	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	561					Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1682G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181626	0.78677	0.0	1.16E-4	ENSG00000146909	ENST00000275820	T	0.23348	1.91	4.52	4.52	0.55395	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.33585	0.0868	M	0.77616	2.38	0.80722	D	1	P	0.44139	0.827	B	0.38803	0.282	T	0.47182	-0.9137	10	0.66056	D	0.02	-9.3841	17.2978	0.87173	0.0:0.0:1.0:0.0	.	561	Q5C9Z4	NOM1_HUMAN	H	561	ENSP00000275820:R561H	ENSP00000275820:R561H	R	+	2	0	NOM1	156447655	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	7.238000	0.78173	2.062000	0.61559	0.543000	0.68304	CGC		0.433	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		50	91	0	0	0	1	0	50	91				
SPPL2A	84888	broad.mit.edu	37	15	51039785	51039785	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51039785G>A	ENST00000261854.5	-	5	765	c.491C>T	c.(490-492)tCg>tTg	p.S164L	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	164					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.S164L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GTTAGGCCACGATGGAGAATA	0.353																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			2	Substitution - Missense(2)	p.S164L(2)	stomach(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(490-492)tCg>tTg		signal peptide peptidase like 2A							104.0	101.0	102.0					15																	51039785		2196	4293	6489	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51039785G>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.491C>T	15.37:g.51039785G>A	ENSP00000261854:p.Ser164Leu					RP11-507J18.2_ENST00000558317.1_RNA	p.S164L	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	5	765	-			164					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.491C>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892552	0.17613	.	.	ENSG00000138600	ENST00000261854	T	0.11604	2.76	5.61	2.68	0.31781	.	0.583941	0.18590	N	0.136753	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.40739	-0.9547	10	0.24483	T	0.36	1.502	8.3593	0.32348	0.1397:0.129:0.7312:0.0	.	164	Q8TCT8	PSL2_HUMAN	L	164	ENSP00000261854:S164L	ENSP00000261854:S164L	S	-	2	0	AC012100.1	48827077	0.009000	0.17119	0.000000	0.03702	0.332000	0.28634	1.624000	0.37018	0.299000	0.22661	0.655000	0.94253	TCG		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		49	63	0	0	0	1	0	49	63				
RAF1	5894	broad.mit.edu	37	3	12653484	12653484	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12653484G>A	ENST00000251849.4	-	3	724	c.285C>T	c.(283-285)tgC>tgT	p.C95C	RAF1_ENST00000442415.2_Silent_p.C95C|RAF1_ENST00000542177.1_Intron|RAF1_ENST00000534997.1_5'Flank	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	95	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACACTGCACAGCACTCTGGTT	0.443			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(283-285)tgC>tgT		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						176.0	170.0	172.0					3																	12653484		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12653484G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.285C>T	3.37:g.12653484G>A						RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Silent_p.C95C	p.C95C	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			3	724	-			95			RBD.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.285C>T	CCDS2612.1																																																																																				0.443	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		6	121	0	0	0	1	0	6	121				
NELFE	7936	broad.mit.edu	37	6	31926208	31926208	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31926208G>A	ENST00000375429.3	-	2	242	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	NELFE_ENST00000375425.5_Missense_Mutation_p.P13S|SKIV2L_ENST00000544581.1_5'Flank|SKIV2L_ENST00000375394.2_5'Flank|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.P6S	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	6					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTCAGTCCGGGGGGTATCACC	0.552																																						ENST00000375429.3																			0											c.(16-18)Ccc>Tcc		negative elongation factor complex member E							154.0	145.0	148.0					6																	31926208		1511	2709	4220	SO:0001583	missense	7936							g.chr6:31926208G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.16C>T	6.37:g.31926208G>A	ENSP00000364578:p.Pro6Ser					NELFE_ENST00000444811.2_Missense_Mutation_p.P6S|NELFE_ENST00000375425.5_Missense_Mutation_p.P13S	p.P6S	NM_002904.5	NP_002895.3					2	242	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.16C>T	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952974	0.73902	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T	0.37058	1.24;1.23;1.22;1.22	5.81	4.94	0.65067	.	0.221828	0.36303	N	0.002678	T	0.03651	0.0104	N	0.01168	-0.975	0.40737	D	0.982797	B;P;B	0.43024	0.057;0.798;0.147	B;B;B	0.39465	0.014;0.3;0.024	T	0.23261	-1.0193	10	0.02654	T	1	-15.4186	8.6195	0.33853	0.0773:0.0:0.7712:0.1515	.	6;6;6	B4DUN1;A2ABK1;P18615	.;.;NELFE_HUMAN	S	6;13;6;6;6;6;6	ENSP00000364578:P6S;ENSP00000364574:P13S;ENSP00000388400:P6S;ENSP00000397914:P6S	ENSP00000364574:P13S	P	-	1	0	RDBP	32034187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.176000	0.58269	1.455000	0.47813	0.650000	0.86243	CCC		0.552	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			18	59	0	0	0	1	0	18	59				
SVIL	6840	broad.mit.edu	37	10	29775373	29775373	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:29775373G>T	ENST00000355867.4	-	25	5351	c.4599C>A	c.(4597-4599)ttC>ttA	p.F1533L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.F447L|SVIL_ENST00000375398.2_Missense_Mutation_p.F1533L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1107L|SVIL_ENST00000538146.1_Missense_Mutation_p.F325L|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1533	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAAGCTTCCAGAAGTCTTTGG	0.403																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4597-4599)ttC>ttA		supervillin							164.0	162.0	162.0					10																	29775373		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775373G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4599C>A	10.37:g.29775373G>T	ENSP00000348128:p.Phe1533Leu					SVIL_ENST00000538146.1_Missense_Mutation_p.F325L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1107L|SVIL_ENST00000355867.4_Missense_Mutation_p.F1533L|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.F447L	p.F1533L			O95425	SVIL_HUMAN			27	5048	-		Breast(68;0.103)	1533			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4599C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445425	0.84101	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.91406	3.205	0.58432	D	0.999996	D;D;D;D	0.69078	0.991;0.997;0.997;0.987	D;D;D;D	0.78314	0.975;0.966;0.991;0.965	T	0.82460	-0.0446	10	0.59425	D	0.04	-24.8809	11.8811	0.52576	0.0795:0.0:0.9205:0.0	.	447;325;1107;1533	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	1107;1533;1533;447;487;325	ENSP00000364549:F1107L;ENSP00000364547:F1533L;ENSP00000348128:F1533L;ENSP00000445472:F447L;ENSP00000440343:F325L	ENSP00000348128:F1533L	F	-	3	2	SVIL	29815379	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.181000	0.50903	2.584000	0.87258	0.556000	0.70494	TTC		0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			54	67	1	0	3.10202e-16	1	3.40411e-16	54	67				
ZNF407	55628	broad.mit.edu	37	18	72775125	72775125	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72775125C>T	ENST00000299687.5	+	8	5448	c.5448C>T	c.(5446-5448)taC>taT	p.Y1816Y		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1816					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCAAGTCGTACGAGTGCCGTC	0.557																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5446-5448)taC>taT		zinc finger protein 407							83.0	93.0	90.0					18																	72775125		2087	4204	6291	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775125C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5448C>T	18.37:g.72775125C>T							p.Y1816Y	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5448	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1816					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5448C>T	CCDS45885.1																																																																																				0.557	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		24	45	0	0	0	1	0	24	45				
PSMB5	5693	broad.mit.edu	37	14	23503907	23503907	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23503907T>C	ENST00000361611.6	-	1	447	c.184A>G	c.(184-186)Acc>Gcc	p.T62A	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.T62A|PSMB5_ENST00000460922.2_Missense_Mutation_p.T62A	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AAGGCCAGGGTGGTTGTTCCA	0.632																																						ENST00000361611.6																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(184-186)Acc>Gcc		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						41.0	37.0	38.0					14																	23503907		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23503907T>C	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.184A>G	14.37:g.23503907T>C	ENSP00000355325:p.Thr62Ala					PSMB5_ENST00000493471.2_Missense_Mutation_p.T62A|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Missense_Mutation_p.T62A	p.T62A	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	1	447	-	all_cancers(95;3.3e-05)		62					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.184A>G	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789494	0.90367	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.50277	0.75;0.75;0.75	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.91300	3.195	0.80722	D	1	P;D	0.69078	0.933;0.997	P;D	0.65140	0.656;0.932	T	0.80348	-0.1420	10	0.87932	D	0	-15.0683	14.2155	0.65790	0.0:0.0:0.0:1.0	.	62;62	P28074-2;P28074	.;PSB5_HUMAN	A	62	ENSP00000355325:T62A;ENSP00000452424:T62A;ENSP00000451286:T62A	ENSP00000334973:T62A	T	-	1	0	PSMB5	22573747	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.645000	0.61404	1.995000	0.58328	0.454000	0.30748	ACC		0.632	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		3	10	0	0	0	1	0	3	10				
ZFYVE26	23503	broad.mit.edu	37	14	68234491	68234491	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68234491T>G	ENST00000347230.4	-	31	5858	c.5720A>C	c.(5719-5721)gAg>gCg	p.E1907A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1907A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1907					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCATTCCACCTCATCTGCTTT	0.433																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5719-5721)gAg>gCg		zinc finger, FYVE domain containing 26							159.0	144.0	149.0					14																	68234491		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68234491T>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5720A>C	14.37:g.68234491T>G	ENSP00000251119:p.Glu1907Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1907A	p.E1907A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	31	5858	-			1907					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5720A>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.185284	0.38609	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28454	1.75;1.61	5.7	4.54	0.55810	.	0.243124	0.41396	D	0.000898	T	0.23572	0.0570	L	0.29908	0.895	0.35234	D	0.777218	B;B	0.16802	0.019;0.011	B;B	0.14578	0.011;0.005	T	0.13899	-1.0492	10	0.39692	T	0.17	-12.1661	12.7034	0.57046	0.0:0.0:0.2584:0.7416	.	1907;1907	G3V2D8;Q68DK2	.;ZFY26_HUMAN	A	1907;1886;1907	ENSP00000251119:E1907A;ENSP00000450603:E1907A	ENSP00000251119:E1907A	E	-	2	0	ZFYVE26	67304244	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	2.969000	0.49232	0.957000	0.37930	0.459000	0.35465	GAG		0.433	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		22	29	0	0	0	1	0	22	29				
HSPH1	10808	broad.mit.edu	37	13	31724164	31724164	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31724164G>A	ENST00000320027.5	-	8	1408	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	HSPH1_ENST00000380405.4_Missense_Mutation_p.A355V|HSPH1_ENST00000429785.2_Missense_Mutation_p.A174V|HSPH1_ENST00000380406.5_Missense_Mutation_p.A314V|HSPH1_ENST00000445273.2_Missense_Mutation_p.A357V	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	355					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAAGAATTTGGCAATTCTTTC	0.413																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1063-1065)gCc>gTc		heat shock 105kDa/110kDa protein 1							129.0	127.0	128.0					13																	31724164		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724164G>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1064C>T	13.37:g.31724164G>A	ENSP00000318687:p.Ala355Val					HSPH1_ENST00000380406.5_Missense_Mutation_p.A314V|HSPH1_ENST00000429785.2_Missense_Mutation_p.A174V|HSPH1_ENST00000380405.4_Missense_Mutation_p.A355V|HSPH1_ENST00000445273.2_Missense_Mutation_p.A357V	p.A355V	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1408	-		Lung SC(185;0.0257)	355					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1064C>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395060	0.42512	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.68	4.82	0.62117	.	0.130558	0.52532	D	0.000067	T	0.01730	0.0055	L	0.37750	1.13	0.41156	D	0.986064	B;B;P;B;P	0.37276	0.407;0.055;0.589;0.354;0.589	B;B;B;B;B	0.43018	0.405;0.061;0.405;0.205;0.405	T	0.68735	-0.5330	10	0.51188	T	0.08	-18.0246	15.6725	0.77289	0.0:0.2593:0.7407:0.0	.	174;314;357;355;355	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	V	355;355;314;357;174;406	ENSP00000318687:A355V;ENSP00000369768:A355V;ENSP00000369769:A314V;ENSP00000396090:A357V;ENSP00000388778:A174V	ENSP00000318687:A355V	A	-	2	0	HSPH1	30622164	1.000000	0.71417	0.991000	0.47740	0.045000	0.14185	2.201000	0.42734	1.374000	0.46228	-0.282000	0.10007	GCC		0.413	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			41	47	0	0	0	1	0	41	47				
FOXO3	2309	broad.mit.edu	37	6	108984784	108984784	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108984784C>T	ENST00000343882.6	+	3	1052	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	FOXO3_ENST00000406360.1_Missense_Mutation_p.R250W|FOXO3_ENST00000540898.1_Missense_Mutation_p.R30W	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	250					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCCGGCGGCGGGCTGTCTC	0.592																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(748-750)Cgg>Tgg		forkhead box O3							14.0	17.0	16.0					6																	108984784		2193	4270	6463	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984784C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.748C>T	6.37:g.108984784C>T	ENSP00000339527:p.Arg250Trp					FOXO3_ENST00000540898.1_Missense_Mutation_p.R30W|FOXO3_ENST00000343882.6_Missense_Mutation_p.R250W	p.R250W	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1091	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	250					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.748C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911299	0.52439	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.94687	-3.49;-3.49	5.74	2.51	0.30379	Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	10	0.87932	D	0	-5.5525	15.8761	0.79162	0.363:0.637:0.0:0.0	.	250	O43524	FOXO3_HUMAN	W	250;250;30;30	ENSP00000339527:R250W;ENSP00000385824:R250W	ENSP00000339527:R250W	R	+	1	2	FOXO3	109091477	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.727000	0.54984	0.693000	0.31634	0.561000	0.74099	CGG		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			6	24	0	0	0	1	0	6	24				
ROBO2	6092	broad.mit.edu	37	3	77526597	77526597	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77526597G>T	ENST00000461745.1	+	3	1321	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.D141Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.D157Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	141	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAACCCCACAGATGTTGTAGT	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(421-423)Gat>Tat		roundabout, axon guidance receptor, homolog 2 (Drosophila)							121.0	116.0	117.0					3																	77526597		1849	4095	5944	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77526597G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.421G>T	3.37:g.77526597G>T	ENSP00000417164:p.Asp141Tyr					ROBO2_ENST00000332191.8_Missense_Mutation_p.D141Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.D157Y	p.D141Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	3	1321	+			141			Ig-like C2-type 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.421G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840379	0.91117	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70045	-0.45;-0.45;-0.45	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.45361	U	0.000361	D	0.84790	0.5550	M	0.85299	2.745	0.36732	D	0.881743	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.996;0.997	D	0.86324	0.1694	9	0.87932	D	0	.	19.9382	0.97149	0.0:0.0:1.0:0.0	.	157;141;141	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Y	157;157;157;141;141	ENSP00000417335:D157Y;ENSP00000417164:D141Y;ENSP00000327536:D141Y	ENSP00000327536:D141Y	D	+	1	0	ROBO2	77609287	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.869000	0.99810	2.720000	0.93068	0.563000	0.77884	GAT		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	62	1	0	7.63091e-17	1	8.38933e-17	38	62				
NKAPL	222698	broad.mit.edu	37	6	28227632	28227632	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28227632G>A	ENST00000343684.3	+	1	535	c.483G>A	c.(481-483)acG>acA	p.T161T	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	161										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAGAGGTAACGCATCAGAAAA	0.453																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(481-483)acG>acA		NFKB activating protein-like							70.0	78.0	75.0					6																	28227632		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227632G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.483G>A	6.37:g.28227632G>A							p.T161T	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	535	+			161					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.483G>A	CCDS34353.1																																																																																				0.453	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			12	75	0	0	0	1	0	12	75				
POLRMT	5442	broad.mit.edu	37	19	621235	621235	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:621235C>T	ENST00000588649.2	-	10	2547	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	821	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.A821A(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		GCAGGGCCCGCGCCACGTCGC	0.697																																						ENST00000588649.2																			1	Substitution - coding silent(1)	p.A821A(1)	prostate(1)	cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(2461-2463)gcG>gcA		polymerase (RNA) mitochondrial (DNA directed)							11.0	15.0	14.0					19																	621235		2177	4245	6422	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:621235C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2463G>A	19.37:g.621235C>T							p.A821A	NM_005035.3	NP_005026.3	O00411	RPOM_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)	10	2547	-		all_epithelial(18;2.78e-22)|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)	821			Mediates interaction with TEFM.		O60370	Silent	SNP	ENST00000588649.2	37	c.2463G>A	CCDS12036.1																																																																																				0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		6	12	0	0	0	1	0	6	12				
DAPK1	1612	broad.mit.edu	37	9	90321624	90321624	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:90321624A>G	ENST00000408954.3	+	26	3973	c.3638A>G	c.(3637-3639)gAc>gGc	p.D1213G	DAPK1_ENST00000469640.2_Missense_Mutation_p.D1238G|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1213G|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1213G|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1147G	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1213					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTGCTGCTGGACTCGGTGTGC	0.647									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3712-3714)gAc>gGc		death-associated protein kinase 1							35.0	40.0	39.0					9																	90321624		2178	4283	6461	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321624A>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3638A>G	9.37:g.90321624A>G	ENSP00000386135:p.Asp1213Gly					DAPK1_ENST00000358077.5_Missense_Mutation_p.D1213G|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1213G|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1147G|DAPK1_ENST00000408954.3_Missense_Mutation_p.D1213G	p.D1238G			P53355	DAPK1_HUMAN			27	4088	+			1213					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3713A>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345055	0.61073	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.69306	-0.35;-0.35;-0.38;-0.35;-0.39	5.12	5.12	0.69794	.	0.106074	0.39475	N	0.001356	T	0.70736	0.3258	L	0.54323	1.7	0.80722	D	1	P;P;P	0.46395	0.598;0.877;0.455	B;P;B	0.49829	0.243;0.623;0.243	T	0.74774	-0.3551	10	0.72032	D	0.01	.	15.086	0.72155	1.0:0.0:0.0:0.0	.	1147;1213;1213	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	G	1213;1213;1238;1213;1147	ENSP00000350785:D1213G;ENSP00000417076:D1213G;ENSP00000418885:D1238G;ENSP00000386135:D1213G;ENSP00000419026:D1147G	ENSP00000350785:D1213G	D	+	2	0	DAPK1	89511444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.148000	0.66965	0.533000	0.62120	GAC		0.647	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		7	9	0	0	0	1	0	7	9				
SIPA1	6494	broad.mit.edu	37	11	65413816	65413816	+	Missense_Mutation	SNP	C	C	T	rs146280906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65413816C>T	ENST00000394224.3	+	7	1684	c.1388C>T	c.(1387-1389)gCa>gTa	p.A463V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A463V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A463V|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.A463V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	463	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGGTGCGGGCACACACACCC	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1387-1389)gCa>gTa		signal-induced proliferation-associated 1		C	VAL/ALA,VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	91.0	75.0	81.0		1388,1388	2.1	0.1	11	dbSNP_134	81	0,8594		0,0,4297	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	64,64	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	463/1043,463/1043	65413816	2,12994	2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413816C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1388C>T	11.37:g.65413816C>T	ENSP00000377771:p.Ala463Val					SIPA1_ENST00000534313.1_Missense_Mutation_p.A463V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A463V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A463V	p.A463V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1684	+			463			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1388C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	2.915	-0.224394	0.06061	4.54E-4	0.0	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	4.03	2.11	0.27256	Rap/ran-GAP (2);	0.444177	0.16608	U	0.207029	T	0.76681	0.4021	N	0.02721	-0.515	0.36964	D	0.893472	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.68146	-0.5486	10	0.02654	T	1	-8.8625	3.7783	0.08669	0.1919:0.6028:0.0:0.2053	.	463;463	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	463	ENSP00000436269:A463V;ENSP00000433686:A463V;ENSP00000377771:A463V;ENSP00000377774:A463V	ENSP00000377771:A463V	A	+	2	0	SIPA1	65170392	0.023000	0.18921	0.074000	0.20217	0.066000	0.16364	0.235000	0.17948	0.466000	0.27193	0.462000	0.41574	GCA		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		12	12	0	0	0	1	0	12	12				
ABHD17C	58489	broad.mit.edu	37	15	81046578	81046578	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81046578C>T	ENST00000258884.4	+	3	984	c.857C>T	c.(856-858)gCg>gTg	p.A286V	ABHD17C_ENST00000558464.1_Missense_Mutation_p.A252V|ABHD17C_ENST00000560609.1_Missense_Mutation_p.A51V|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	286							hydrolase activity (GO:0016787)										CATGGCCTAGCGATGTACGAG	0.478																																						ENST00000258884.4																			0											c.(856-858)gCg>gTg		abhydrolase domain containing 17C							73.0	72.0	72.0					15																	81046578		1953	4140	6093	SO:0001583	missense	58489							g.chr15:81046578C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.857C>T	15.37:g.81046578C>T	ENSP00000258884:p.Ala286Val					ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.A51V|ABHD17C_ENST00000558464.1_Missense_Mutation_p.A252V	p.A286V	NM_021214.1	NP_067037.1					3	984	+								Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	c.857C>T	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871703	0.51695	.	.	ENSG00000136379	ENST00000258884	T	0.24723	1.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.39020	1.185	0.80722	D	1	P;P	0.44946	0.846;0.673	B;B	0.40375	0.327;0.169	T	0.01312	-1.1388	10	0.36615	T	0.2	.	19.3772	0.94517	0.0:1.0:0.0:0.0	.	286;252	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	V	286	ENSP00000258884:A286V	ENSP00000258884:A286V	A	+	2	0	FAM108C1	78833633	1.000000	0.71417	0.984000	0.44739	0.206000	0.24218	7.456000	0.80751	2.560000	0.86352	0.650000	0.86243	GCG		0.478	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		21	17	0	0	0	1	0	21	17				
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814722G>A	ENST00000407775.2	+	8	2662	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.T672T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.T535T|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.T672T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	804					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T804T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443																																						ENST00000407775.2																			1	Substitution - coding silent(1)	p.T804T(1)	lung(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2410-2412)acG>acA		zinc finger protein, FOG family member 2							53.0	50.0	51.0					8																	106814722		1931	4150	6081	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814722G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2412G>A	8.37:g.106814722G>A						ZFPM2_ENST00000378472.4_Silent_p.T535T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.T672T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T672T|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T804T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2662	+			804					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2412G>A	CCDS47908.1																																																																																				0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			6	15	0	0	0	1	0	6	15				
MAP1A	4130	broad.mit.edu	37	15	43817299	43817299	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43817299C>T	ENST00000300231.5	+	4	4078	c.3628C>T	c.(3628-3630)Ctg>Ttg	p.L1210L	MAP1A_ENST00000382031.1_Silent_p.L1448L|MAP1A_ENST00000399453.1_Silent_p.L1210L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1210					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGACCTCCCTGGATGTCTC	0.522																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4342-4344)Ctg>Ttg		microtubule-associated protein 1A	Estramustine(DB01196)						86.0	89.0	88.0					15																	43817299		1918	4123	6041	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817299C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3628C>T	15.37:g.43817299C>T						MAP1A_ENST00000399453.1_Silent_p.L1210L|MAP1A_ENST00000300231.5_Silent_p.L1210L	p.L1448L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4373	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1210					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.4342C>T	CCDS42031.1																																																																																				0.522	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		29	40	0	0	0	1	0	29	40				
GRM3	2913	broad.mit.edu	37	7	86415812	86415812	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86415812G>A	ENST00000361669.2	+	3	1803	c.704G>A	c.(703-705)cGc>cAc	p.R235H	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R235H|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R233H|GRM3_ENST00000536043.1_Missense_Mutation_p.R107H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	235					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAGGAAGCCCGCCTGCGCAAC	0.597																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(703-705)cGc>cAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						55.0	52.0	53.0					7																	86415812		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415812G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.704G>A	7.37:g.86415812G>A	ENSP00000355316:p.Arg235His					GRM3_ENST00000394720.2_Missense_Mutation_p.R233H|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R107H|GRM3_ENST00000439827.1_Missense_Mutation_p.R235H	p.R235H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1803	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		235					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.704G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619381	0.87460	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.72	4.83	0.62350	Extracellular ligand-binding receptor (1);	0.051376	0.85682	D	0.000000	D	0.93223	0.7841	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.75020	0.975;0.907;0.985	D	0.94386	0.7609	10	0.72032	D	0.01	.	15.8198	0.78631	0.0:0.1361:0.8639:0.0	.	107;235;235	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	235;107;107;235;233	ENSP00000355316:R235H;ENSP00000405427:R107H;ENSP00000441407:R107H;ENSP00000398767:R235H;ENSP00000378209:R233H	ENSP00000355316:R235H	R	+	2	0	GRM3	86253748	1.000000	0.71417	0.370000	0.25965	0.990000	0.78478	9.756000	0.98918	1.400000	0.46741	0.655000	0.94253	CGC		0.597	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	14	0	0	0	1	0	9	14				
ZBTB5	9925	broad.mit.edu	37	9	37441732	37441732	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37441732G>A	ENST00000307750.4	-	2	1005	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GACTGGCTGGGCACCTGGGCA	0.473																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(817-819)Ccc>Tcc		zinc finger and BTB domain containing 5							70.0	75.0	74.0					9																	37441732		2203	4300	6503	SO:0001583	missense	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37441732G>A	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.817C>T	9.37:g.37441732G>A	ENSP00000307604:p.Pro273Ser						p.P273S	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1005	-			273						Missense_Mutation	SNP	ENST00000307750.4	37	c.817C>T	CCDS6610.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930798	0.52866	.	.	ENSG00000168795	ENST00000307750	T	0.37411	1.2	5.65	5.65	0.86999	.	0.058142	0.64402	D	0.000001	T	0.29288	0.0729	L	0.27053	0.805	0.54753	D	0.99998	B	0.18013	0.025	B	0.18263	0.021	T	0.06320	-1.0833	10	0.16896	T	0.51	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	273	O15062	ZBTB5_HUMAN	S	273	ENSP00000307604:P273S	ENSP00000307604:P273S	P	-	1	0	ZBTB5	37431732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.894000	0.69806	2.941000	0.99782	0.655000	0.94253	CCC		0.473	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		33	44	0	0	0	1	0	33	44				
PTPRO	5800	broad.mit.edu	37	12	15669887	15669887	+	Silent	SNP	C	C	T	rs369419924	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15669887C>T	ENST00000281171.4	+	9	2106	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	PTPRO_ENST00000543886.1_Silent_p.S592S|PTPRO_ENST00000348962.2_Silent_p.S592S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	592	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TAACTGCATCCGTGGTAATCT	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		17706	0.0		0.0	False		,,,				2504	0.002					ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1774-1776)tcC>tcT		protein tyrosine phosphatase, receptor type, O		C	,	1,4405	2.1+/-5.4	0,1,2202	214.0	179.0	191.0		1776,1776	-9.8	0.2	12		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRO	NM_002848.3,NM_030667.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	592/1189,592/1217	15669887	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669887C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1776C>T	12.37:g.15669887C>T						PTPRO_ENST00000348962.2_Silent_p.S592S|PTPRO_ENST00000543886.1_Silent_p.S592S	p.S592S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			9	2106	+		Hepatocellular(102;0.244)	592			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1776C>T	CCDS8675.1																																																																																				0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			4	85	0	0	0	1	0	4	85				
SSTR4	6754	broad.mit.edu	37	20	23016836	23016836	+	Missense_Mutation	SNP	G	G	A	rs375423682		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:23016836G>A	ENST00000255008.3	+	1	780	c.716G>A	c.(715-717)cGc>cAc	p.R239H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	239					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCAAGATGCGCGCCGTGGCC	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(715-717)cGc>cAc		somatostatin receptor 4		G	HIS/ARG	0,4328		0,0,2164	75.0	85.0	81.0		716	2.6	0.9	20		81	1,8553		0,1,4276	no	missense	SSTR4	NM_001052.2	29	0,1,6440	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	239/389	23016836	1,12881	2164	4277	6441	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016836G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.716G>A	20.37:g.23016836G>A	ENSP00000255008:p.Arg239His					RP4-753D10.3_ENST00000440921.1_RNA	p.R239H	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	780	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		239					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.716G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316756	0.60524	0.0	1.17E-4	ENSG00000132671	ENST00000255008	T	0.42513	0.97	3.6	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000028	T	0.58061	0.2096	M	0.65320	2	0.38522	D	0.948741	D	0.89917	1.0	D	0.83275	0.996	T	0.62450	-0.6852	10	0.87932	D	0	.	10.6779	0.45797	0.0:0.0:0.807:0.193	.	239	P31391	SSR4_HUMAN	H	239	ENSP00000255008:R239H	ENSP00000255008:R239H	R	+	2	0	SSTR4	22964836	0.989000	0.36119	0.888000	0.34837	0.991000	0.79684	2.616000	0.46376	0.648000	0.30732	0.655000	0.94253	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			22	47	0	0	0	1	0	22	47				
SLITRK6	84189	broad.mit.edu	37	13	86368664	86368664	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:86368664C>A	ENST00000400286.2	-	2	2578	c.1980G>T	c.(1978-1980)atG>atT	p.M660I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	660					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TATGGCCATACATGCTGTACT	0.443																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1978-1980)atG>atT		SLIT and NTRK-like family, member 6							190.0	183.0	185.0					13																	86368664		2012	4173	6185	SO:0001583	missense	84189					integral to membrane		g.chr13:86368664C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1980G>T	13.37:g.86368664C>A	ENSP00000383143:p.Met660Ile						p.M660I	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2578	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		660					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1980G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	4.900	0.167319	0.09339	.	.	ENSG00000184564	ENST00000400286	T	0.55052	0.54	5.65	5.65	0.86999	.	0.000000	0.85682	U	0.000000	T	0.40094	0.1103	L	0.41236	1.265	0.50813	D	0.999897	P	0.43788	0.817	B	0.36666	0.23	T	0.41910	-0.9482	10	0.02654	T	1	-12.4395	18.2829	0.90104	0.0:1.0:0.0:0.0	.	660	Q9H5Y7	SLIK6_HUMAN	I	660	ENSP00000383143:M660I	ENSP00000383143:M660I	M	-	3	0	SLITRK6	85266665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.785000	0.68998	2.656000	0.90262	0.655000	0.94253	ATG		0.443	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		3	55	1	0	1	1	1	3	55				
ADAMTS16	170690	broad.mit.edu	37	5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	rs371654781		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2125-2127)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 16		G	HIS/ARG	1,3801		0,1,1900	138.0	128.0	131.0		2126	5.7	1.0	5		131	0,8246		0,0,4123	no	missense	ADAMTS16	NM_139056.2	29	0,1,6023	AA,AG,GG		0.0,0.0263,0.0083	benign	709/1225	5237184	1,12047	1901	4123	6024	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237184G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2126G>A	5.37:g.5237184G>A	ENSP00000274181:p.Arg709His					ADAMTS16_ENST00000513709.1_Intron	p.R709H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			14	2264	+			709			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2126G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275132	0.23307	2.63E-4	0.0	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.59638	0.25	5.73	5.73	0.89815	.	0.373024	0.28712	N	0.014384	T	0.46444	0.1393	L	0.52364	1.645	0.30781	N	0.741972	B;B	0.21688	0.059;0.023	B;B	0.15484	0.006;0.013	T	0.42949	-0.9421	10	0.16420	T	0.52	.	8.3841	0.32491	0.0811:0.1572:0.7617:0.0	.	709;709	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	709	ENSP00000274181:R709H	ENSP00000274181:R709H	R	+	2	0	ADAMTS16	5290184	0.227000	0.23707	1.000000	0.80357	0.998000	0.95712	0.854000	0.27791	2.708000	0.92522	0.655000	0.94253	CGT		0.403	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		24	49	0	0	0	1	0	24	49				
USP14	9097	broad.mit.edu	37	18	192883	192883	+	Missense_Mutation	SNP	C	C	T	rs577282582		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:192883C>T	ENST00000261601.7	+	6	537	c.446C>T	c.(445-447)gCg>gTg	p.A149V	USP14_ENST00000383589.2_Missense_Mutation_p.A103V|USP14_ENST00000582707.1_Missense_Mutation_p.A114V|USP14_ENST00000400266.3_Missense_Mutation_p.A138V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	149	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGGCTTCAGCGCAGTATATT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17677	0.0		0.0	False		,,,				2504	0.0					ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(445-447)gCg>gTg		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							161.0	158.0	159.0					18																	192883		2203	4300	6503	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:192883C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.446C>T	18.37:g.192883C>T	ENSP00000261601:p.Ala149Val					USP14_ENST00000582707.1_Missense_Mutation_p.A114V|USP14_ENST00000383589.2_Missense_Mutation_p.A103V|USP14_ENST00000400266.3_Missense_Mutation_p.A138V	p.A149V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			6	537	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	149					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.446C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889564	0.91889	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31510	1.49;1.49	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051891	0.85682	D	0.000000	T	0.50222	0.1603	M	0.68952	2.095	0.80722	D	1	D;P;P	0.55800	0.973;0.913;0.951	P;P;P	0.54270	0.747;0.526;0.595	T	0.48703	-0.9012	10	0.66056	D	0.02	-17.9728	20.0425	0.97596	0.0:1.0:0.0:0.0	.	138;114;149	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	149;114;138	ENSP00000261601:A149V;ENSP00000383125:A138V	ENSP00000261601:A149V	A	+	2	0	USP14	182883	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.863000	0.75489	2.745000	0.94114	0.650000	0.86243	GCG		0.368	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		32	58	0	0	0	1	0	32	58				
SLC4A5	57835	broad.mit.edu	37	2	74454146	74454146	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74454146G>T	ENST00000377634.4	-	28	3475	c.3076C>A	c.(3076-3078)Ctc>Atc	p.L1026I	SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1026I|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L908I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.L1010I|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P950H					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCAGGCAGAGGATCTGCACC	0.642																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3028-3030)Ctc>Atc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							71.0	72.0	71.0					2																	74454146		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74454146G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3076C>A	2.37:g.74454146G>T	ENSP00000366861:p.Leu1026Ile					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P950H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L1026I|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000358683.4_Missense_Mutation_p.L908I|SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.L1026I	p.L1010I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			27	3425	-			1026						Missense_Mutation	SNP	ENST00000377634.4	37	c.3028C>A	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.258627|3.258627	0.59321|0.59321	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377634|ENST00000423644;ENST00000425249	T;T;T;T;T|T;T	0.77358|0.71817	-1.06;-1.08;-1.08;-1.09;-1.09|-0.6;-0.33	5.24|5.24	3.38|3.38	0.38709|0.38709	.|.	0.604139|.	0.17618|.	N|.	0.167838|.	T|T	0.63319|0.63319	0.2501|0.2501	L|L	0.50919|0.50919	1.6|1.6	0.21527|0.21527	N|N	0.999657|0.999657	B;B;B|B	0.20164|0.06786	0.008;0.002;0.042|0.001	B;B;B|B	0.24848|0.04013	0.026;0.01;0.056|0.001	T|T	0.57522|0.57522	-0.7797|-0.7797	10|9	0.39692|0.87932	T|D	0.17|0	.|.	8.0412|8.0412	0.30523|0.30523	0.0:0.1575:0.5172:0.3253|0.0:0.1575:0.5172:0.3253	.|.	908;1026;1010|912	Q9BY07-7;Q9BY07;Q9BY07-3|E7EQT3	.;S4A5_HUMAN;.|.	I|H	1010;1026;908;908;1026;1026|950;912	ENSP00000377587:L1010I;ENSP00000352461:L908I;ENSP00000351513:L908I;ENSP00000350475:L1026I;ENSP00000366861:L1026I|ENSP00000395804:P950H;ENSP00000405678:P912H	ENSP00000350475:L1026I|ENSP00000395804:P950H	L|P	-|-	1|2	0|0	SLC4A5|SLC4A5	74307654|74307654	0.008000|0.008000	0.16893|0.16893	0.992000|0.992000	0.48379|0.48379	0.999000|0.999000	0.98932|0.98932	0.080000|0.080000	0.14802|0.14802	0.737000|0.737000	0.32582|0.32582	0.637000|0.637000	0.83480|0.83480	CTC|CCT		0.642	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			22	38	1	0	1.10923e-09	1	1.18008e-09	22	38				
RPS6KB2	6199	broad.mit.edu	37	11	67201898	67201898	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67201898G>A	ENST00000312629.5	+	13	1143	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	366	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACGGCAGACGCCGGTGGACA	0.647																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(1096-1098)acG>acA		ribosomal protein S6 kinase, 70kDa, polypeptide 2							34.0	39.0	37.0					11																	67201898		2073	4200	6273	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201898G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1098G>A	11.37:g.67201898G>A						AP003419.16_ENST00000535922.1_RNA	p.T366T	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		13	1143	+			366			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.1098G>A	CCDS41677.1																																																																																				0.647	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		9	15	0	0	0	1	0	9	15				
ILF3	3609	broad.mit.edu	37	19	10789860	10789860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10789860C>T	ENST00000590261.1	+	6	739	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ILF3_ENST00000589998.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000449870.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.R247*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.R247*			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	247	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGTCCCCTCCGAGGCTGGGT	0.597																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(739-741)Cga>Tga		interleukin enhancer binding factor 3, 90kDa							68.0	56.0	60.0					19																	10789860		2203	4300	6503	SO:0001587	stop_gained	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789860C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.739C>T	19.37:g.10789860C>T	ENSP00000468156:p.Arg247*					ILF3_ENST00000407004.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000589998.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.R247*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.R247*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.R247*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.R247*	p.R247*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		7	1056	+			247			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Nonsense_Mutation	SNP	ENST00000590261.1	37	c.739C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	39	7.333929	0.98217	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	.	.	.	5.42	2.05	0.26809	.	0.053184	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3715	0.32419	0.3866:0.4936:0.0:0.1197	.	.	.	.	X	247	.	ENSP00000250241:R247X	R	+	1	2	ILF3	10650860	0.314000	0.24563	0.998000	0.56505	0.993000	0.82548	1.020000	0.30027	0.150000	0.19136	-0.145000	0.13849	CGA		0.597	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			19	20	0	0	0	1	0	19	20				
RLTPR	146206	broad.mit.edu	37	16	67681780	67681780	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67681780C>A	ENST00000334583.6	+	13	1318	c.990C>A	c.(988-990)acC>acA	p.T330T	RLTPR_ENST00000545661.1_Silent_p.T330T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	330					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACTGGCCACCAATGCCGCCT	0.677																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(988-990)acC>acA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							17.0	20.0	19.0					16																	67681780		1916	4132	6048	SO:0001819	synonymous_variant	146206							g.chr16:67681780C>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.990C>A	16.37:g.67681780C>A						RLTPR_ENST00000545661.1_Silent_p.T330T	p.T330T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	13	1318	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	330					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.990C>A	CCDS45513.1																																																																																				0.677	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	21	1	0	6.31663e-08	1	6.64488e-08	14	21				
LAMA5	3911	broad.mit.edu	37	20	60892518	60892518	+	Missense_Mutation	SNP	C	C	T	rs200632605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60892518C>T	ENST00000252999.3	-	55	7460	c.7394G>A	c.(7393-7395)cGg>cAg	p.R2465Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2465	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGTGGGGTCCGAGCCCCATC	0.672													.|||	1	0.000199681	0.0	0.0	5008	,	,		17186	0.001		0.0	False		,,,				2504	0.0					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(7393-7395)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						22.0	25.0	24.0					20																	60892518		2176	4263	6439	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60892518C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7394G>A	20.37:g.60892518C>T	ENSP00000252999:p.Arg2465Gln						p.R2465Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		55	7460	-	Breast(26;1.57e-08)		2465			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7394G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.522255	0.44866	.	.	ENSG00000130702	ENST00000252999	T	0.19806	2.12	3.54	3.54	0.40534	.	0.279863	0.31589	U	0.007392	T	0.17280	0.0415	M	0.62723	1.935	0.43462	D	0.99566	B	0.34181	0.44	B	0.19148	0.024	T	0.05084	-1.0907	10	0.27082	T	0.32	.	10.1161	0.42591	0.0:0.894:0.0:0.106	.	2465	O15230	LAMA5_HUMAN	Q	2465	ENSP00000252999:R2465Q	ENSP00000252999:R2465Q	R	-	2	0	LAMA5	60325913	0.000000	0.05858	0.254000	0.24359	0.059000	0.15707	0.577000	0.23758	1.522000	0.49001	0.436000	0.28706	CGG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	17	0	0	0	1	0	8	17				
GLB1	2720	broad.mit.edu	37	3	33099744	33099744	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33099744G>A	ENST00000399402.3	-	6	611	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GLB1_ENST00000307363.5_Silent_p.G190G|GLB1_ENST00000445488.2_Silent_p.G238G|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	190					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CAAAGTAGCTGCCATATTCAT	0.458																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(568-570)ggC>ggT		galactosidase, beta 1							29.0	31.0	30.0					3																	33099744		1852	4101	5953	SO:0001819	synonymous_variant	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33099744G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.480C>T	3.37:g.33099744G>A						GLB1_ENST00000399402.3_Silent_p.G160G|GLB1_ENST00000445488.2_Silent_p.G238G|GLB1_ENST00000307377.8_Intron	p.G190G	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			6	714	-		Melanoma(143;0.104)	190		G -> D (in GM1G1; 3.4% of wild-type enzyme activity).			B2R7H8|B7Z6B0|P16279	Silent	SNP	ENST00000399402.3	37	c.570C>T	CCDS43062.1																																																																																				0.458	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		12	25	0	0	0	1	0	12	25				
MYOM3	127294	broad.mit.edu	37	1	24397623	24397623	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24397623T>C	ENST00000374434.3	-	25	3296	c.3134A>G	c.(3133-3135)gAg>gGg	p.E1045G	MYOM3_ENST00000330966.7_Missense_Mutation_p.E1046G|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.E1045G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1045						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTGAAGATCTCCTTGTTGTT	0.562											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3136-3138)gAg>gGg		myomesin 3							72.0	71.0	72.0					1																	24397623		1928	4136	6064	SO:0001583	missense	127294							g.chr1:24397623T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3134A>G	1.37:g.24397623T>C	ENSP00000363557:p.Glu1045Gly		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_ENST00000329601.7_Missense_Mutation_p.E1045G|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1045G|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	p.E1046G			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3299	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1045					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3137A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089930	0.55968	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.05258	3.47;3.47;3.47	5.54	5.54	0.83059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	M	0.61703	1.905	0.42909	D	0.994256	B;P	0.51147	0.167;0.942	B;P	0.54759	0.152;0.76	T	0.00308	-1.1829	10	0.62326	D	0.03	.	10.572	0.45206	0.144:0.0:0.0:0.856	.	1045;1045	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	G	1045;1046;1045	ENSP00000363557:E1045G;ENSP00000332670:E1046G;ENSP00000328415:E1045G	ENSP00000328415:E1045G	E	-	2	0	MYOM3	24270210	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.199000	0.58426	2.111000	0.64477	0.379000	0.24179	GAG		0.562	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		14	36	0	0	0	1	0	14	36				
ZNF683	257101	broad.mit.edu	37	1	26688416	26688416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26688416C>T	ENST00000436292.1	-	7	1421	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ZNF683_ENST00000349618.3_Missense_Mutation_p.R414H|ZNF683_ENST00000374204.1_Missense_Mutation_p.R414H|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434H			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	434					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTGGGTGAAGCGACTCCGGCA	0.667																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1300-1302)cGc>cAc		zinc finger protein 683							50.0	51.0	51.0					1																	26688416		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688416C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1301G>A	1.37:g.26688416C>T	ENSP00000388792:p.Arg434His					ZNF683_ENST00000374204.1_Missense_Mutation_p.R414H|ZNF683_ENST00000349618.3_Missense_Mutation_p.R414H|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434H	p.R434H			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1421	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	434					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1301G>A		.	.	.	.	.	.	.	.	.	.	C	11.55	1.671955	0.29693	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	3.96	0.959	0.19624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358492	0.20637	N	0.088466	T	0.12178	0.0296	L	0.35414	1.06	0.25889	N	0.983495	B;B	0.24368	0.083;0.102	B;B	0.27170	0.018;0.077	T	0.33059	-0.9883	10	0.12430	T	0.62	-19.1251	5.3566	0.16065	0.0:0.6258:0.1691:0.2051	.	414;434	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	H	434;434;414;414	ENSP00000384782:R434H;ENSP00000388792:R434H;ENSP00000363320:R414H;ENSP00000344095:R414H	ENSP00000344095:R414H	R	-	2	0	ZNF683	26561003	0.973000	0.33851	0.094000	0.20943	0.627000	0.37826	0.139000	0.16036	0.213000	0.20722	-0.254000	0.11334	CGC		0.667	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		22	32	0	0	0	1	0	22	32				
C19orf40	91442	broad.mit.edu	37	19	33465049	33465049	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33465049G>A	ENST00000588258.1	+	4	437	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_Silent_p.V14V|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_Silent_p.V14V|C19orf40_ENST00000590281.1_Silent_p.V109V	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	109					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AGTTTACTGTGCTGGACCTTG	0.468								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(325-327)gtG>gtA	Direct reversal of damage	chromosome 19 open reading frame 40							100.0	86.0	91.0					19																	33465049		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33465049G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.327G>A	19.37:g.33465049G>A						C19orf40_ENST00000589646.1_Silent_p.V14V|C19orf40_ENST00000590281.1_Silent_p.V109V|C19orf40_ENST00000590179.1_Silent_p.V14V	p.V109V	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			4	437	+	Esophageal squamous(110;0.137)		109					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.327G>A	CCDS12426.1																																																																																				0.468	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		26	36	0	0	0	1	0	26	36				
BAG2	9532	broad.mit.edu	37	6	57048805	57048805	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57048805T>C	ENST00000370693.5	+	3	825	c.453T>C	c.(451-453)gtT>gtC	p.V151V	BAG2_ENST00000545080.1_Silent_p.V118V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	151	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGGGCCAGTTGATCAGAAGT	0.393																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(451-453)gtT>gtC		BCL2-associated athanogene 2							108.0	103.0	105.0					6																	57048805		2203	4300	6503	SO:0001819	synonymous_variant	9532				apoptosis|protein folding		protein binding	g.chr6:57048805T>C	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.453T>C	6.37:g.57048805T>C						BAG2_ENST00000545080.1_Silent_p.V118V	p.V151V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	825	+	Lung NSC(77;0.126)		151			BAG.		B4DXE2|Q08AS9|Q6FID0	Silent	SNP	ENST00000370693.5	37	c.453T>C	CCDS4961.1																																																																																				0.393	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			32	54	0	0	0	1	0	32	54				
HID1	283987	broad.mit.edu	37	17	72954478	72954478	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72954478G>A	ENST00000425042.2	-	11	1413	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	446					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ATGGGCACGCGGATTGAGTAG	0.642											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425042.2																			0											c.(1336-1338)Cgc>Tgc		HID1 domain containing							64.0	47.0	53.0					17																	72954478		2203	4300	6503	SO:0001583	missense	283987							g.chr17:72954478G>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1336C>T	17.37:g.72954478G>A	ENSP00000413520:p.Arg446Cys		OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141		p.R446C	NM_030630.2	NP_085133.1					11	1413	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1336C>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837233	0.71373	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.93	4.93	0.64822	.	0.178963	0.49916	D	0.000127	T	0.77671	0.4165	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.80856	-0.1195	9	0.72032	D	0.01	-17.0154	18.1326	0.89606	0.0:0.0:1.0:0.0	.	446	Q8IV36	CQ028_HUMAN	C	218;446;218	.	ENSP00000317795:R218C	R	-	1	0	C17orf28	70466073	1.000000	0.71417	0.143000	0.22291	0.251000	0.25915	7.639000	0.83342	2.284000	0.76573	0.561000	0.74099	CGC		0.642	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		5	7	0	0	0	1	0	5	7				
USP7	7874	broad.mit.edu	37	16	9017178	9017178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9017178G>A	ENST00000344836.4	-	3	475	c.277C>T	c.(277-279)Cga>Tga	p.R93*	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Nonsense_Mutation_p.R77*|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	93	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGCAGATTTCGCACAAAACAC	0.498																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(277-279)Cga>Tga		ubiquitin specific peptidase 7 (herpes virus-associated)							143.0	129.0	134.0					16																	9017178		2197	4300	6497	SO:0001587	stop_gained	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9017178G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.277C>T	16.37:g.9017178G>A	ENSP00000343535:p.Arg93*					USP7_ENST00000381886.4_Nonsense_Mutation_p.R77*|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR	p.R93*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	475	-			93			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	ENST00000344836.4	37	c.277C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389677	0.95988	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	.	.	.	5.57	5.57	0.84162	.	0.055816	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	.	.	.	X	93;101;35	.	ENSP00000343535:R93X	R	-	1	2	USP7	8924679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.158000	0.71851	2.793000	0.96121	0.655000	0.94253	CGA		0.498	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			17	41	0	0	0	1	0	17	41				
GMIP	51291	broad.mit.edu	37	19	19744908	19744908	+	Missense_Mutation	SNP	G	G	A	rs139822718		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19744908G>A	ENST00000203556.4	-	19	2313	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	GMIP_ENST00000445806.2_Missense_Mutation_p.R697W|GMIP_ENST00000587238.1_Missense_Mutation_p.R700W|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	726	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGCTGCCCGCGGGCCGTCC	0.612																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2176-2178)Cgg>Tgg		GEM interacting protein		G	TRP/ARG	1,4401		0,1,2200	32.0	37.0	35.0		2176	-6.6	0.0	19	dbSNP_134	35	0,8584		0,0,4292	no	missense	GMIP	NM_016573.2	101	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	726/971	19744908	1,12985	2201	4292	6493	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744908G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2176C>T	19.37:g.19744908G>A	ENSP00000203556:p.Arg726Trp					GMIP_ENST00000587238.1_Missense_Mutation_p.R700W|GMIP_ENST00000445806.2_Missense_Mutation_p.R697W	p.R726W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			19	2313	-			726			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2176C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635884	0.29068	2.27E-4	0.0	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.23348	1.92;1.91	5.25	-6.63	0.01807	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.698280	0.12304	N	0.480890	T	0.18676	0.0448	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61697	0.99;0.986;0.99	P;P;P	0.51101	0.659;0.625;0.659	T	0.04737	-1.0930	10	0.66056	D	0.02	-2.5091	2.9391	0.05824	0.3683:0.3773:0.1463:0.108	.	697;700;726	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	W	726;697	ENSP00000203556:R726W;ENSP00000397075:R697W	ENSP00000203556:R726W	R	-	1	2	GMIP	19605908	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.085000	0.11250	-1.530000	0.01751	-0.345000	0.07892	CGG		0.612	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	34	0	0	0	1	0	18	34				
CAPNS1	826	broad.mit.edu	37	19	36633826	36633826	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36633826G>A	ENST00000246533.3	+	5	947	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A87T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A117T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	117	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGTCAGCGCCACAGAACT	0.522																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(349-351)Gcc>Acc		calpain, small subunit 1							105.0	90.0	95.0					19																	36633826		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633826G>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.349G>A	19.37:g.36633826G>A	ENSP00000246533:p.Ala117Thr					CAPNS1_ENST00000587718.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A87T|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A117T|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A117T	p.A117T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	947	+	Esophageal squamous(110;0.162)		117			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.349G>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.095544	0.76870	.	.	ENSG00000126247	ENST00000246533	T	0.78816	-1.21	4.85	3.8	0.43715	EF-hand-like domain (1);	0.111281	0.64402	D	0.000009	D	0.88897	0.6562	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	D	0.91287	0.5056	10	0.62326	D	0.03	.	13.2061	0.59798	0.0:0.1614:0.8386:0.0	.	117	P04632	CPNS1_HUMAN	T	117	ENSP00000246533:A117T	ENSP00000246533:A117T	A	+	1	0	CAPNS1	41325666	0.998000	0.40836	0.969000	0.41365	0.995000	0.86356	3.179000	0.50887	1.380000	0.46344	0.655000	0.94253	GCC		0.522	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			18	21	0	0	0	1	0	18	21				
KIAA1217	56243	broad.mit.edu	37	10	24669871	24669871	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:24669871C>T	ENST00000376454.3	+	3	458	c.428C>T	c.(427-429)aCg>aTg	p.T143M	KIAA1217_ENST00000458595.1_Missense_Mutation_p.T143M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T63M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T64M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T143M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	143					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTATCAGAGACGTCCGCTGAT	0.547																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(427-429)aCg>aTg		KIAA1217							68.0	71.0	70.0					10																	24669871		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669871C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.428C>T	10.37:g.24669871C>T	ENSP00000365637:p.Thr143Met					KIAA1217_ENST00000458595.1_Missense_Mutation_p.T143M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T63M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T143M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T64M	p.T143M	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	458	+			143					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.428C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547749	0.65311	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000430453	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.54	4.63	0.57726	.	0.275239	0.40144	N	0.001180	T	0.61515	0.2353	L	0.36672	1.1	0.80722	D	1	D;D;D;P	0.63046	0.992;0.988;0.975;0.872	P;P;P;P	0.50270	0.636;0.563;0.46;0.46	T	0.65747	-0.6093	10	0.66056	D	0.02	.	14.3605	0.66768	0.0:0.9287:0.0:0.0713	.	143;143;143;143	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	M	63;143;143;143;143;64	ENSP00000365645:T63M;ENSP00000365639:T143M;ENSP00000392625:T143M;ENSP00000365637:T143M;ENSP00000365635:T143M;ENSP00000389680:T64M	ENSP00000365635:T143M	T	+	2	0	KIAA1217	24709877	1.000000	0.71417	0.132000	0.22025	0.508000	0.34012	7.469000	0.80959	1.350000	0.45770	0.591000	0.81541	ACG		0.547	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		20	27	0	0	0	1	0	20	27				
DOCK2	1794	broad.mit.edu	37	5	169129425	169129425	+	Silent	SNP	G	G	A	rs144520292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169129425G>A	ENST00000256935.8	+	14	1457	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	DOCK2_ENST00000520908.1_5'Flank|DOCK2_ENST00000540750.1_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	459	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGCAAAACGCTGCCTGTAA	0.502											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19645	0.001		0.0	False		,,,				2504	0.0					ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1375-1377)acG>acA		dedicator of cytokinesis 2							182.0	136.0	151.0					5																	169129425		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169129425G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1377G>A	5.37:g.169129425G>A			OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1875		p.T459T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1457	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	459			DHR-1.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.1377G>A	CCDS4371.1																																																																																				0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		13	29	0	0	0	1	0	13	29				
CCDC88C	440193	broad.mit.edu	37	14	91779572	91779572	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91779572G>A	ENST00000389857.6	-	15	2674	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	863					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCAACGGCGGACAGTTTGGC	0.622																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(2587-2589)tCc>tTc		coiled-coil domain containing 88C							113.0	118.0	117.0					14																	91779572		2151	4243	6394	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91779572G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2588C>T	14.37:g.91779572G>A	ENSP00000374507:p.Ser863Phe						p.S863F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			15	2674	-		all_cancers(154;0.0468)	863					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.2588C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386173	0.25031	.	.	ENSG00000015133	ENST00000389857	T	0.15372	2.43	5.12	3.27	0.37495	.	0.300273	0.22986	U	0.053243	T	0.19287	0.0463	M	0.61703	1.905	0.80722	D	1	P	0.37158	0.585	B	0.37198	0.243	T	0.01810	-1.1269	10	0.66056	D	0.02	-3.9927	10.0358	0.42129	0.0758:0.1504:0.7738:0.0	.	863	Q9P219	DAPLE_HUMAN	F	863	ENSP00000374507:S863F	ENSP00000374507:S863F	S	-	2	0	CCDC88C	90849325	0.999000	0.42202	0.787000	0.31911	0.019000	0.09904	3.102000	0.50291	0.544000	0.28883	0.561000	0.74099	TCC		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		39	53	0	0	0	1	0	39	53				
CBLC	23624	broad.mit.edu	37	19	45284308	45284308	+	Splice_Site	SNP	G	G	A	rs201807125		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45284308G>A	ENST00000270279.3	+	2	563	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	CBLC_ENST00000341505.4_Splice_Site_p.R167Q	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	167	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGCGGAGCCCGGTGAGTAAGC	0.652			M		AML								G|||	1	0.000199681	0.0	0.0	5008	,	,		17576	0.001		0.0	False		,,,				2504	0.0					ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e2+1		Cbl proto-oncogene C, E3 ubiquitin protein ligase		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	45.0	46.0	46.0		500,500	3.9	1.0	19		46	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice	CBLC	NM_001130852.1,NM_012116.3	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	167/429,167/475	45284308	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284308G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.500+1G>A	19.37:g.45284308G>A						CBLC_ENST00000341505.4_Splice_Site_p.R167_splice	p.R167_splice	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			2	563	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	167			Cbl-PTB.|EF-hand-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Splice_Site	SNP	ENST00000270279.3	37	c.500_splice	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.710769	0.48517	2.27E-4	0.0	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.87334	-2.24;-2.24	4.98	3.87	0.44632	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.343652	0.23256	N	0.050191	D	0.90424	0.7002	M	0.66939	2.045	0.35579	D	0.806145	D;D	0.89917	0.999;1.0	D;D	0.71656	0.922;0.974	D	0.90477	0.4457	10	0.42905	T	0.14	-12.2086	7.0034	0.24823	0.2266:0.0:0.7734:0.0	.	167;167	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	Q	167	ENSP00000270279:R167Q;ENSP00000340250:R167Q	ENSP00000270279:R167Q	R	+	2	0	CBLC	49976148	1.000000	0.71417	0.985000	0.45067	0.125000	0.20455	3.382000	0.52463	0.965000	0.38133	0.491000	0.48974	CGG		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116	Missense_Mutation	5	15	0	0	0	1	0	5	15				
ANKRD36	375248	broad.mit.edu	37	2	97877447	97877447	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97877447G>A	ENST00000461153.2	+	58	3682	c.3438G>A	c.(3436-3438)acG>acA	p.T1146T	ANKRD36_ENST00000420699.2_Silent_p.T1146T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1146										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATATGGCCACGGAAAAAAAGG	0.333																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3436-3438)acG>acA		ankyrin repeat domain 36							140.0	133.0	135.0					2																	97877447		692	1591	2283	SO:0001819	synonymous_variant	375248							g.chr2:97877447G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3438G>A	2.37:g.97877447G>A						ANKRD36_ENST00000461153.2_Silent_p.T1146T	p.T1146T	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			58	3682	+			1146					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.3438G>A	CCDS54379.1																																																																																				0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	5	0	0	0	1	0	4	5				
PKN3	29941	broad.mit.edu	37	9	131482744	131482744	+	Silent	SNP	G	G	A	rs141598296		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131482744G>A	ENST00000291906.4	+	22	2922	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	843	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTGGCCCTGCGGACCTGCGCT	0.687																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2527-2529)gcG>gcA		protein kinase N3		G		0,4406		0,0,2203	84.0	87.0	86.0		2529	-6.3	0.8	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKN3	NM_013355.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		843/890	131482744	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482744G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2529G>A	9.37:g.131482744G>A							p.A843A	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			22	2922	+			843			AGC-kinase C-terminal.		Q9UM03	Silent	SNP	ENST00000291906.4	37	c.2529G>A	CCDS6908.1																																																																																				0.687	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		30	44	0	0	0	1	0	30	44				
TAS2R20	259295	broad.mit.edu	37	12	11149790	11149790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11149790G>A	ENST00000538986.1	-	1	684	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	229					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTCACAGTTTGCAGAGCTTTT	0.388																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(685-687)Caa>Taa		taste receptor, type 2, member 20							175.0	174.0	174.0					12																	11149790		2203	4300	6503	SO:0001587	stop_gained	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149790G>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.685C>T	12.37:g.11149790G>A	ENSP00000441624:p.Gln229*					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.Q229*	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN			1	684	-			229					P59549|Q2HIZ4|Q496D8|Q645X9	Nonsense_Mutation	SNP	ENST00000538986.1	37	c.685C>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716346	0.30413	.	.	ENSG00000255837	ENST00000538986	.	.	.	2.66	-0.916	0.10489	.	0.250456	0.27563	U	0.018806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	2.4071	0.04415	0.2736:0.0:0.3155:0.4109	.	.	.	.	X	229	.	ENSP00000441624:Q229X	Q	-	1	0	TAS2R20	11041057	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	0.471000	0.22100	0.013000	0.14918	-0.293000	0.09583	CAA		0.388	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		42	65	0	0	0	1	0	42	65				
SZT2	23334	broad.mit.edu	37	1	43908866	43908866	+	Silent	SNP	G	G	A	rs140309222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43908866G>A	ENST00000562955.1	+	59	8256	c.8256G>A	c.(8254-8256)gaG>gaA	p.E2752E	SZT2_ENST00000372442.1_Silent_p.E1910E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2809					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGCTGGAGCGCCAGATGA	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19794	0.0		0.0	False		,,,				2504	0.0					ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8254-8256)gaG>gaA		seizure threshold 2 homolog (mouse)		G		12,4394	19.1+/-41.9	0,12,2191	143.0	134.0	137.0		8256	2.8	1.0	1	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous	SZT2	NM_015284.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		2752/3376	43908866	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43908866G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8256G>A	1.37:g.43908866G>A						SZT2_ENST00000372442.1_Silent_p.E1910E	p.E2752E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			59	8256	+			2809					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8256G>A	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		21	17	0	0	0	1	0	21	17				
RPS6KA4	8986	broad.mit.edu	37	11	64132774	64132774	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64132774G>A	ENST00000334205.4	+	9	973	c.908G>A	c.(907-909)gGc>gAc	p.G303D	RPS6KA4_ENST00000528057.1_Splice_Site_p.G303D|RPS6KA4_ENST00000294261.4_Splice_Site_p.G303D	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	303	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TTCCCTCAGGGCCTCGATTGG	0.592																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.e9-1		ribosomal protein S6 kinase, 90kDa, polypeptide 4							59.0	61.0	61.0					11																	64132774		2201	4297	6498	SO:0001630	splice_region_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64132774G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.907-1G>A	11.37:g.64132774G>A						RPS6KA4_ENST00000294261.4_Splice_Site_p.G303_splice|RPS6KA4_ENST00000334205.4_Splice_Site_p.G303_splice	p.G303_splice	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			9	996	+			303			AGC-kinase C-terminal.		A8K7Z8|O75585|Q53ES8	Splice_Site	SNP	ENST00000334205.4	37	c.906_splice	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	5.994	0.367293	0.11352	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.05	5.05	0.67936	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.110969	0.64402	D	0.000011	T	0.38799	0.1054	L	0.35854	1.095	0.39210	D	0.963301	B;B;B;B	0.24043	0.0;0.014;0.012;0.096	B;B;B;B	0.26693	0.001;0.007;0.022;0.072	T	0.24584	-1.0156	10	0.11794	T	0.64	.	9.5119	0.39082	0.0972:0.0:0.9028:0.0	.	303;303;303;303	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	D	303;303;303;287	ENSP00000435580:G303D;ENSP00000333896:G303D;ENSP00000294261:G303D;ENSP00000432945:G287D	ENSP00000294261:G303D	G	+	2	0	RPS6KA4	63889350	0.998000	0.40836	0.994000	0.49952	0.038000	0.13279	2.699000	0.47077	2.363000	0.80096	0.471000	0.43371	GGC		0.592	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942	Missense_Mutation	18	16	0	0	0	1	0	18	16				
ZNF614	80110	broad.mit.edu	37	19	52521726	52521726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52521726C>T	ENST00000270649.6	-	3	581	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF614_ENST00000356322.6_Missense_Mutation_p.V13M	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	13	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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCACAGCCACATCCTCCAGG	0.398																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(37-39)Gtg>Atg		zinc finger protein 614							88.0	85.0	86.0					19																	52521726		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52521726C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.37G>A	19.37:g.52521726C>T	ENSP00000270649:p.Val13Met					ZNF614_ENST00000356322.6_Missense_Mutation_p.V13M	p.V13M	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	581	-		all_neural(266;0.0505)	13			KRAB.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.37G>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969578	0.53614	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.10382	2.88;2.88	3.23	2.18	0.27775	Krueppel-associated box (4);	.	.	.	.	T	0.37679	0.1012	M	0.92367	3.3	0.22940	N	0.998532	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.98	T	0.10800	-1.0614	9	0.72032	D	0.01	.	8.0022	0.30304	0.0:0.8731:0.0:0.1269	.	13;13	Q8N883;Q9BSN8	ZN614_HUMAN;.	M	13	ENSP00000348674:V13M;ENSP00000270649:V13M	ENSP00000270649:V13M	V	-	1	0	ZNF614	57213538	0.980000	0.34600	0.928000	0.36995	0.863000	0.49368	2.734000	0.47368	0.684000	0.31448	0.591000	0.81541	GTG		0.398	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		28	34	0	0	0	1	0	28	34				
KRTAP19-7	337974	broad.mit.edu	37	21	31933435	31933435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31933435C>T	ENST00000334849.2	-	1	198	c.174G>A	c.(172-174)tgG>tgA	p.W58*		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	58						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATCCAGAAGACCAGTATCCCC	0.433																																						ENST00000334849.2																			0				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						c.(172-174)tgG>tgA		keratin associated protein 19-7							113.0	120.0	118.0					21																	31933435		2203	4300	6503	SO:0001587	stop_gained	337974					intermediate filament		g.chr21:31933435C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.174G>A	21.37:g.31933435C>T	ENSP00000334696:p.Trp58*						p.W58*	NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN			1	198	-			58					Q08EP7	Nonsense_Mutation	SNP	ENST00000334849.2	37	c.174G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.878240	0.51801	.	.	ENSG00000244362	ENST00000334849	.	.	.	3.98	3.09	0.35607	.	0.819404	0.10366	U	0.683441	.	.	.	.	.	.	0.23314	N	0.997923	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3464	0.32275	0.0:0.884:0.0:0.116	.	.	.	.	X	58	.	ENSP00000334696:W58X	W	-	3	0	KRTAP19-7	30855306	0.026000	0.19158	0.805000	0.32314	0.679000	0.39708	0.580000	0.23803	1.018000	0.39521	0.524000	0.50904	TGG		0.433	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			23	13	0	0	0	1	0	23	13				
ZNF835	90485	broad.mit.edu	37	19	57176450	57176450	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(115-117)gcC>gcT		zinc finger protein 835							78.0	84.0	82.0					19																	57176450		1994	4165	6159	SO:0001819	synonymous_variant	90485							g.chr19:57176450G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.117C>T	19.37:g.57176450G>A							p.A39A	NM_001005850.2	NP_001005850.2					2	348	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.117C>T	CCDS56105.1																																																																																				0.602	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		10	34	0	0	0	1	0	10	34				
TACC2	10579	broad.mit.edu	37	10	123844901	123844901	+	Silent	SNP	G	G	A	rs149803621	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123844901G>A	ENST00000369005.1	+	4	3226	c.2886G>A	c.(2884-2886)tcG>tcA	p.S962S	TACC2_ENST00000334433.3_Silent_p.S962S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S962S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.S962S|TACC2_ENST00000515603.1_Silent_p.S962S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	962					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGAGGGTCTCGCCTCCAGCAG	0.537																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2884-2886)tcG>tcA		transforming, acidic coiled-coil containing protein 2		G	,	5,4401	9.9+/-24.2	0,5,2198	79.0	83.0	82.0		,2886	-9.9	0.0	10	dbSNP_134	82	0,8600		0,0,4300	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	,962/2949	123844901	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844901G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2886G>A	10.37:g.123844901G>A						TACC2_ENST00000515603.1_Silent_p.S962S|TACC2_ENST00000334433.3_Silent_p.S962S|TACC2_ENST00000453444.2_Silent_p.S962S|TACC2_ENST00000515273.1_Silent_p.S962S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	p.S962S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3226	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	962					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2886G>A	CCDS7626.1																																																																																				0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	63	0	0	0	1	0	12	63				
NANP	140838	broad.mit.edu	37	20	25596943	25596943	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25596943C>T	ENST00000304788.3	-	2	591	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	122					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						GACCTCCTTTCGAAGTTCAGT	0.433																																						ENST00000304788.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(364-366)cGa>cAa		N-acetylneuraminic acid phosphatase							109.0	107.0	107.0					20																	25596943		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596943C>T	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.365G>A	20.37:g.25596943C>T	ENSP00000302441:p.Arg122Gln						p.R122Q	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN			2	591	-			122					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.365G>A	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905506	0.52333	.	.	ENSG00000170191	ENST00000304788	T	0.05319	3.46	5.4	3.44	0.39384	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.122798	0.56097	D	0.000031	T	0.10937	0.0267	L	0.56280	1.765	0.44149	D	0.996943	D	0.64830	0.994	P	0.52710	0.707	T	0.23440	-1.0188	10	0.20519	T	0.43	-19.2015	9.0402	0.36314	0.0:0.7689:0.1489:0.0821	.	122	Q8TBE9	NANP_HUMAN	Q	122	ENSP00000302441:R122Q	ENSP00000302441:R122Q	R	-	2	0	NANP	25544943	1.000000	0.71417	0.956000	0.39512	0.942000	0.58702	5.368000	0.66133	0.632000	0.30432	0.485000	0.47835	CGA		0.433	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		28	37	0	0	0	1	0	28	37				
FMN2	56776	broad.mit.edu	37	1	240371758	240371758	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240371758G>A	ENST00000319653.9	+	5	3876	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1216	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCAGGTATGGGGATTCCACC	0.642																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3646-3648)Ggg>Agg		formin 2							24.0	24.0	24.0					1																	240371758		2202	4300	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371758G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3646G>A	1.37:g.240371758G>A	ENSP00000318884:p.Gly1216Arg						p.G1216R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3876	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1216			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3646G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	8.246	0.807954	0.16467	.	.	ENSG00000155816	ENST00000319653	T	0.59364	0.27	4.33	1.37	0.22104	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.55465	0.1922	M	0.80422	2.495	0.31161	N	0.704298	P	0.36330	0.548	B	0.38020	0.263	T	0.56938	-0.7896	8	.	.	.	.	4.9017	0.13779	0.1598:0.0:0.5455:0.2947	.	1216	Q9NZ56	FMN2_HUMAN	R	1216	ENSP00000318884:G1216R	.	G	+	1	0	FMN2	238438381	1.000000	0.71417	0.345000	0.25642	0.844000	0.47949	3.096000	0.50243	0.101000	0.17610	0.472000	0.43445	GGG		0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	6	0	0	0	1	0	3	6				
HEATR6	63897	broad.mit.edu	37	17	58150574	58150574	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58150574G>A	ENST00000184956.6	-	4	551	c.535C>T	c.(535-537)Cct>Tct	p.P179S	HEATR6_ENST00000585976.1_Missense_Mutation_p.P179S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	179							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTGACTTCAGGATCAGACTGA	0.428																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(535-537)Cct>Tct		HEAT repeat containing 6							120.0	111.0	114.0					17																	58150574		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58150574G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.535C>T	17.37:g.58150574G>A	ENSP00000184956:p.Pro179Ser					HEATR6_ENST00000585976.1_Missense_Mutation_p.P179S	p.P179S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		4	551	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		179					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.535C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368716	0.42003	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.66815	-0.23	5.15	4.16	0.48862	Armadillo-like helical (1);Armadillo-type fold (1);	0.600791	0.18663	N	0.134674	T	0.59059	0.2166	L	0.60455	1.87	0.23186	N	0.998158	B;B	0.31730	0.047;0.337	B;B	0.22880	0.025;0.042	T	0.56583	-0.7955	10	0.62326	D	0.03	-5.4429	10.6045	0.45386	0.0:0.2654:0.5976:0.137	.	26;179	E7ESB9;Q6AI08	.;HEAT6_HUMAN	S	179;26	ENSP00000184956:P179S	ENSP00000184956:P179S	P	-	1	0	HEATR6	55505356	0.997000	0.39634	1.000000	0.80357	0.890000	0.51754	1.261000	0.32980	1.289000	0.44618	0.478000	0.44815	CCT		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		22	35	0	0	0	1	0	22	35				
OTUD7B	56957	broad.mit.edu	37	1	149916659	149916659	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149916659G>A	ENST00000369135.4	-	12	1923	c.1629C>T	c.(1627-1629)agC>agT	p.S543S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	543					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTCAGTGCCGCTGCTTCCTC	0.582																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1627-1629)agC>agT		OTU domain containing 7B							110.0	114.0	113.0					1																	149916659		2010	4190	6200	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916659G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1629C>T	1.37:g.149916659G>A							p.S543S	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1923	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		543					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1629C>T	CCDS41389.1																																																																																				0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		43	55	0	0	0	1	0	43	55				
RPL18A	6142	broad.mit.edu	37	19	17973016	17973016	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17973016C>T	ENST00000222247.5	+	3	393	c.312C>T	c.(310-312)ggC>ggT	p.G104G	RPL18A_ENST00000599898.1_Silent_p.G65G|RPL18A_ENST00000600147.1_Silent_p.G104G|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Silent_p.G75G	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	104					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCACCGCAGGCGCTGTCACCC	0.627																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(310-312)ggC>ggT		ribosomal protein L18a							58.0	62.0	61.0					19																	17973016		2203	4299	6502	SO:0001819	synonymous_variant	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17973016C>T	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.312C>T	19.37:g.17973016C>T						RPL18A_ENST00000599870.1_Silent_p.G75G|RPL18A_ENST00000599898.1_Silent_p.G65G|RPL18A_ENST00000222247.5_Silent_p.G104G	p.G104G			Q02543	RL18A_HUMAN			3	348	+			104						Silent	SNP	ENST00000222247.5	37	c.312C>T	CCDS12367.1																																																																																				0.627	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		6	34	0	0	0	1	0	6	34				
METTL17	64745	broad.mit.edu	37	14	21464858	21464858	+	Missense_Mutation	SNP	G	G	A	rs139452603	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21464858G>A	ENST00000339374.6	+	13	1486	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	METTL17_ENST00000556670.2_Missense_Mutation_p.R418H|SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.R418H|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	418					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTCACAGCCCGCCGGCACGGC	0.582													G|||	4	0.000798722	0.0	0.0029	5008	,	,		15629	0.0		0.002	False		,,,				2504	0.0					ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1252-1254)cGc>cAc		methyltransferase like 17		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	87.0	83.0	84.0		1253,1253	3.5	0.9	14	dbSNP_134	84	9,8591	6.4+/-24.3	0,9,4291	yes	missense,missense	METTL17	NM_001029991.1,NM_022734.2	29,29	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging,probably-damaging	418/479,418/457	21464858	9,12997	2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464858G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1253G>A	14.37:g.21464858G>A	ENSP00000343041:p.Arg418His					METTL17_ENST00000556670.2_Missense_Mutation_p.R418H|METTL17_ENST00000382985.4_Missense_Mutation_p.R418H|RP11-84C10.4_ENST00000557335.1_RNA	p.R418H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1486	+			418					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1253G>A	CCDS9562.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	14.95	2.687585	0.48097	0.0	0.001047	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.34859	1.4;1.34	5.34	3.5	0.40072	.	0.188949	0.46442	N	0.000285	T	0.38134	0.1029	M	0.83774	2.66	0.41569	D	0.988672	P;B;B	0.36048	0.534;0.302;0.257	B;B;B	0.30105	0.097;0.111;0.067	T	0.34204	-0.9838	10	0.56958	D	0.05	.	10.2603	0.43423	0.1649:0.0:0.8351:0.0	.	418;418;418	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	H	418	ENSP00000343041:R418H;ENSP00000372445:R418H	ENSP00000343041:R418H	R	+	2	0	METTL17	20534698	0.599000	0.26891	0.879000	0.34478	0.979000	0.70002	1.238000	0.32707	0.625000	0.30304	0.655000	0.94253	CGC		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		20	33	0	0	0	1	0	20	33				
VANGL2	57216	broad.mit.edu	37	1	160390904	160390904	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160390904C>T	ENST00000368061.2	+	6	1474	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	334					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTCGGAGGCGGGACAACAG	0.577																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1000-1002)Cgg>Tgg		VANGL planar cell polarity protein 2							78.0	67.0	71.0					1																	160390904		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160390904C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1000C>T	1.37:g.160390904C>T	ENSP00000357040:p.Arg334Trp					VANGL2_ENST00000483408.1_3'UTR	p.R334W	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	1474	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		334					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1000C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207769	0.79240	.	.	ENSG00000162738	ENST00000368061	D	0.84370	-1.84	5.75	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92588	0.6080	10	0.87932	D	0	-28.3442	13.541	0.61674	0.1571:0.8429:0.0:0.0	.	334	Q9ULK5	VANG2_HUMAN	W	334	ENSP00000357040:R334W	ENSP00000357040:R334W	R	+	1	2	VANGL2	158657528	0.940000	0.31905	1.000000	0.80357	0.994000	0.84299	0.086000	0.14935	1.364000	0.46038	0.655000	0.94253	CGG		0.577	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	16	0	0	0	1	0	9	16				
LATS1	9113	broad.mit.edu	37	6	150023045	150023045	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150023045G>A	ENST00000543571.1	-	2	765	c.218C>T	c.(217-219)aCg>aTg	p.T73M	LATS1_ENST00000392273.3_Missense_Mutation_p.T73M|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.T73M	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTATGATGCGTCCCAAATTT	0.393																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(217-219)aCg>aTg		large tumor suppressor kinase 1							185.0	177.0	180.0					6																	150023045		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023045G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.218C>T	6.37:g.150023045G>A	ENSP00000437550:p.Thr73Met					LATS1_ENST00000392273.3_Missense_Mutation_p.T73M|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.T73M	p.T73M	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	765	-		Ovarian(120;0.0164)	73						Missense_Mutation	SNP	ENST00000543571.1	37	c.218C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347797	0.61183	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.25414	1.8;1.8;1.8	5.42	3.54	0.40534	.	0.224693	0.30999	N	0.008455	T	0.09113	0.0225	L	0.44542	1.39	0.34858	D	0.742304	B;B	0.19583	0.018;0.037	B;B	0.16722	0.011;0.016	T	0.09907	-1.0653	9	.	.	.	.	11.4052	0.49894	0.1519:0.0:0.8481:0.0	.	73;73	O95835-2;O95835	.;LATS1_HUMAN	M	73	ENSP00000437550:T73M;ENSP00000253339:T73M;ENSP00000444678:T73M	.	T	-	2	0	LATS1	150064738	1.000000	0.71417	0.716000	0.30569	0.907000	0.53573	3.289000	0.51747	0.762000	0.33152	0.561000	0.74099	ACG		0.393	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		5	137	0	0	0	1	0	5	137				
CFAP20	29105	broad.mit.edu	37	16	58149205	58149205	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58149205C>T	ENST00000262498.3	-	4	767	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAATTGGTGCCGTATGCTCGC	0.547																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(433-435)Ggc>Agc		chromosome 16 open reading frame 80							241.0	200.0	214.0					16																	58149205		2198	4300	6498	SO:0001583	missense	29105				multicellular organismal development			g.chr16:58149205C>T																												ENST00000262498.3:c.433G>A	16.37:g.58149205C>T	ENSP00000262498:p.Gly145Ser					C16orf80_ENST00000562443.1_5'UTR	p.G145S	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	767	-			145						Missense_Mutation	SNP	ENST00000262498.3	37	c.433G>A	CCDS10793.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700952	0.88924	.	.	ENSG00000070761	ENST00000262498	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.92833	3.35	0.80722	D	1	P	0.47962	0.903	P	0.49252	0.604	T	0.70241	-0.4926	10	0.46703	T	0.11	-32.1389	18.0354	0.89301	0.0:1.0:0.0:0.0	.	145	Q9Y6A4	CP080_HUMAN	S	145	ENSP00000262498:G145S	ENSP00000262498:G145S	G	-	1	0	C16orf80	56706706	1.000000	0.71417	0.998000	0.56505	0.323000	0.28346	7.282000	0.78630	2.941000	0.99782	0.655000	0.94253	GGC		0.547	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			38	47	0	0	0	1	0	38	47				
PIK3C2B	5287	broad.mit.edu	37	1	204434354	204434354	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204434354G>C	ENST00000367187.3	-	4	1583	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L343V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	343					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TACATATCCAGCATGTGGCAA	0.517																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1027-1029)Ctg>Gtg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							119.0	126.0	123.0					1																	204434354		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204434354G>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1027C>G	1.37:g.204434354G>C	ENSP00000356155:p.Leu343Val					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L343V	p.L343V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		4	1583	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		343					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1027C>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123494	0.08931	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.59083	0.29;0.43	5.24	4.33	0.51752	.	0.260548	0.31589	N	0.007391	T	0.65026	0.2652	L	0.37630	1.12	0.35328	D	0.785339	B;D	0.63880	0.067;0.993	B;D	0.70016	0.021;0.967	T	0.74334	-0.3699	10	0.72032	D	0.01	.	11.7633	0.51916	0.0822:0.0:0.9178:0.0	.	343;343	F5GWN5;O00750	.;P3C2B_HUMAN	V	343;343;121;121	ENSP00000356155:L343V;ENSP00000400561:L343V	ENSP00000356152:L121V	L	-	1	2	PIK3C2B	202700977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.717000	0.74707	1.214000	0.43395	0.655000	0.94253	CTG		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		33	39	0	0	0	1	0	33	39				
WRN	7486	broad.mit.edu	37	8	31007866	31007866	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:31007866G>A	ENST00000298139.5	+	31	3831	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1194	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GACCAACTACGGTTGAAAACG	0.408			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3580-3582)acG>acA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							103.0	98.0	100.0					8																	31007866		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31007866G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3582G>A	8.37:g.31007866G>A							p.T1194T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	31	3831	+		Breast(100;0.195)	1194			HRDC.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3582G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	53	0	0	0	1	0	6	53				
SYDE1	85360	broad.mit.edu	37	19	15222568	15222568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15222568C>T	ENST00000342784.2	+	6	1574	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	SYDE1_ENST00000600440.1_Nonsense_Mutation_p.R448*|SYDE1_ENST00000600252.1_Nonsense_Mutation_p.R172*	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	515	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TGAGGGCACCCGAGGGCTCCT	0.607																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(514-516)Cga>Tga		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							29.0	31.0	30.0					19																	15222568		2203	4300	6503	SO:0001587	stop_gained	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15222568C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1543C>T	19.37:g.15222568C>T	ENSP00000341489:p.Arg515*					SYDE1_ENST00000600440.1_Nonsense_Mutation_p.R448*|SYDE1_ENST00000342784.2_Nonsense_Mutation_p.R515*	p.R172*			Q6ZW31	SYDE1_HUMAN			3	2156	+			515					Q7L2I8|Q8N6J2|Q9H8K4	Nonsense_Mutation	SNP	ENST00000342784.2	37	c.514C>T	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641781	0.97726	.	.	ENSG00000105137	ENST00000342784	.	.	.	5.44	1.82	0.25136	.	0.168210	0.40554	N	0.001072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.2568	0.31760	0.3973:0.4876:0.1151:0.0	.	.	.	.	X	515	.	ENSP00000341489:R515X	R	+	1	2	SYDE1	15083568	0.001000	0.12720	1.000000	0.80357	0.910000	0.53928	-0.546000	0.06062	0.573000	0.29400	0.655000	0.94253	CGA		0.607	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		7	12	0	0	0	1	0	7	12				
ARHGAP32	9743	broad.mit.edu	37	11	128839028	128839028	+	Missense_Mutation	SNP	C	C	T	rs373791354		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128839028C>T	ENST00000310343.9	-	22	6037	c.6038G>A	c.(6037-6039)cGc>cAc	p.R2013H	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2013	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGCTCTGGCGCTTGCCGTG	0.572																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6037-6039)cGc>cAc		Rho GTPase activating protein 32		C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	119.0	99.0	106.0		6038,4991	5.7	1.0	11		106	0,8594		0,0,4297	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	29,29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2013/2088,1664/1739	128839028	1,12995	2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839028C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6038G>A	11.37:g.128839028C>T	ENSP00000310561:p.Arg2013His					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1664H|ARHGAP32_ENST00000524655.1_3'UTR	p.R2013H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	6037	-			2013			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6038G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548151	0.65311	2.27E-4	0.0	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20332	2.08;2.08;2.08	5.68	5.68	0.88126	.	0.059143	0.64402	D	0.000007	T	0.45296	0.1335	M	0.68952	2.095	0.41430	D	0.987858	D	0.89917	1.0	P	0.61722	0.893	T	0.37820	-0.9689	10	0.87932	D	0	.	19.8476	0.96716	0.0:1.0:0.0:0.0	.	2013	A7KAX9	RHG32_HUMAN	H	2013;1664;1664	ENSP00000310561:R2013H;ENSP00000376425:R1664H;ENSP00000432862:R1664H	ENSP00000310561:R2013H	R	-	2	0	ARHGAP32	128344238	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	3.630000	0.54273	2.694000	0.91930	0.650000	0.86243	CGC		0.572	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		19	22	0	0	0	1	0	19	22				
PHLPP1	23239	broad.mit.edu	37	18	60646053	60646053	+	Missense_Mutation	SNP	C	C	T	rs569551998		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60646053C>T	ENST00000262719.5	+	17	4777	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R1003C			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1515					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGTGAGCAGCGCTGCATGCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20374	0.001		0.0	False		,,,				2504	0.0					ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3007-3009)Cgc>Tgc		PH domain and leucine rich repeat protein phosphatase 1							40.0	42.0	42.0					18																	60646053		2096	4229	6325	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646053C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4543C>T	18.37:g.60646053C>T	ENSP00000262719:p.Arg1515Cys					PHLPP1_ENST00000262719.5_Missense_Mutation_p.R1515C	p.R1003C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4788	+			1515					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3007C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995230	0.35226	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.27256	1.79;1.68	4.05	4.05	0.47172	.	.	.	.	.	T	0.21881	0.0527	L	0.28458	0.855	0.53005	D	0.999966	B	0.19200	0.034	B	0.08055	0.003	T	0.08722	-1.0708	9	0.87932	D	0	-16.6367	16.3974	0.83613	0.0:1.0:0.0:0.0	.	1515	O60346	PHLP1_HUMAN	C	1003;1515	ENSP00000383170:R1003C;ENSP00000262719:R1515C	ENSP00000262719:R1515C	R	+	1	0	PHLPP1	58797033	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.317000	0.59184	2.078000	0.62432	0.555000	0.69702	CGC		0.627	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		4	3	0	0	0	1	0	4	3				
SERPINC1	462	broad.mit.edu	37	1	173879931	173879931	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173879931C>A	ENST00000367698.3	-	4	841	c.723G>T	c.(721-723)gaG>gaT	p.E241D	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	241					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GAACAGTGAGCTCATTGATGG	0.512																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(721-723)gaG>gaT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						166.0	150.0	155.0					1																	173879931		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173879931C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.723G>T	1.37:g.173879931C>A	ENSP00000356671:p.Glu241Asp						p.E241D	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			4	841	-			241					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.723G>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	2.481	-0.319694	0.05386	.	.	ENSG00000117601	ENST00000367698	D	0.84516	-1.86	5.72	1.56	0.23342	Serpin domain (3);	0.499140	0.23556	N	0.046909	T	0.47060	0.1425	N	0.13371	0.34	0.23411	N	0.997739	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.33141	T	0.24	.	2.0641	0.03599	0.1903:0.4691:0.1106:0.23	.	241	P01008	ANT3_HUMAN	D	241	ENSP00000356671:E241D	ENSP00000356671:E241D	E	-	3	2	SERPINC1	172146554	0.000000	0.05858	0.914000	0.36105	0.343000	0.28985	-0.436000	0.06922	0.783000	0.33636	-0.145000	0.13849	GAG		0.512	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		39	40	1	0	6.2361e-21	1	6.91678e-21	39	40				
OR4C46	119749	broad.mit.edu	37	11	51515399	51515399	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:51515399T>A	ENST00000328188.1	+	1	118	c.118T>A	c.(118-120)Tat>Aat	p.Y40N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y40N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGGTGGGATATGTGCTCAT	0.453																																						ENST00000328188.1																			1	Substitution - Missense(1)	p.Y40N(1)	endometrium(1)	endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(118-120)Tat>Aat		olfactory receptor, family 4, subfamily C, member 46							237.0	226.0	230.0					11																	51515399		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515399T>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.118T>A	11.37:g.51515399T>A	ENSP00000329056:p.Tyr40Asn						p.Y40N	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	118	+			40						Missense_Mutation	SNP	ENST00000328188.1	37	c.118T>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.503055	0.00992	.	.	ENSG00000185926	ENST00000328188	T	0.06142	3.34	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	N	0.000940	T	0.00412	0.0013	N	0.00000	-4.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	10	0.02654	T	1	.	6.3725	0.21489	0.7796:0.0:0.0:0.2204	.	40	A6NHA9	O4C46_HUMAN	N	40	ENSP00000329056:Y40N	ENSP00000329056:Y40N	Y	+	1	0	OR4C46	51371975	0.999000	0.42202	0.003000	0.11579	0.003000	0.03518	4.960000	0.63673	0.271000	0.22005	-1.617000	0.00794	TAT		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		9	116	0	0	0	1	0	9	116				
ABI3BP	25890	broad.mit.edu	37	3	100471765	100471765	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100471765C>A	ENST00000284322.5	-	33	2964	c.2855G>T	c.(2854-2856)aGa>aTa	p.R952I	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R906I|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1654I	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	952					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTAAAGGGTCTTTCAGTCCA	0.378																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4960-4962)aGa>aTa		ABI family, member 3 (NESH) binding protein							84.0	77.0	79.0					3																	100471765		1852	4100	5952	SO:0001583	missense	25890					extracellular space		g.chr3:100471765C>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2855G>T	3.37:g.100471765C>A	ENSP00000284322:p.Arg952Ile					ABI3BP_ENST00000284322.5_Missense_Mutation_p.R952I|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R906I	p.R1654I			Q7Z7G0	TARSH_HUMAN			65	5070	-			952					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4961G>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150992|2.150992	0.38021|0.38021	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.52983	.|0.64;0.64;0.64	6.02|6.02	5.08|5.08	0.68730|0.68730	.|.	.|0.098407	.|0.64402	.|D	.|0.000001	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.03115|0.03115	-0.41|-0.41	0.53005|0.53005	D|D	0.999969|0.999969	.|B;B;B;B	.|0.23540	.|0.084;0.007;0.039;0.087	.|B;B;B;B	.|0.28011	.|0.026;0.004;0.043;0.085	T|T	0.13361|0.13361	-1.0512|-1.0512	5|10	.|0.18710	.|T	.|0.47	-23.0471|-23.0471	11.8173|11.8173	0.52218|0.52218	0.3719:0.6281:0.0:0.0|0.3719:0.6281:0.0:0.0	.|.	.|906;952;1654;661	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	Y|I	1008|1654;952;661;363;906	.|ENSP00000420524:R1654I;ENSP00000284322:R952I;ENSP00000373189:R906I	.|ENSP00000284322:R952I	D|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101954455|101954455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.774000|6.774000	0.75012|0.75012	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			11	38	1	0	5.16669e-11	1	5.54509e-11	11	38				
POLE	5426	broad.mit.edu	37	12	133249829	133249829	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133249829G>A	ENST00000320574.5	-	14	1437	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	POLE_ENST00000535270.1_Missense_Mutation_p.A438V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	465					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTAGTAAGTGGCGACAGCATC	0.517								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1393-1395)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							206.0	172.0	183.0					12																	133249829		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133249829G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1394C>T	12.37:g.133249829G>A	ENSP00000322570:p.Ala465Val					POLE_ENST00000535270.1_Missense_Mutation_p.A438V	p.A465V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	14	1437	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	465					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1394C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340886	0.95783	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.43688	4.8;4.8;4.8;0.94	5.37	5.37	0.77165	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.80141	-0.1506	10	0.87932	D	0	.	19.0945	0.93244	0.0:0.0:1.0:0.0	.	438;465	F5H1D6;Q07864	.;DPOE1_HUMAN	V	465;476;438;245;400;83	ENSP00000322570:A465V;ENSP00000406383:A476V;ENSP00000445753:A438V;ENSP00000442519:A245V	ENSP00000322570:A465V	A	-	2	0	POLE	131759902	1.000000	0.71417	0.993000	0.49108	0.781000	0.44180	9.807000	0.99171	2.524000	0.85096	0.313000	0.20887	GCC		0.517	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		31	44	0	0	0	1	0	31	44				
TMEM67	91147	broad.mit.edu	37	8	94811976	94811976	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:94811976G>A	ENST00000453321.3	+	21	2289	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	TMEM67_ENST00000409623.3_Missense_Mutation_p.G663E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	744					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTAGCCATTGGAATTATACAG	0.363																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(2230-2232)gGa>gAa		transmembrane protein 67							117.0	112.0	114.0					8																	94811976		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94811976G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2231G>A	8.37:g.94811976G>A	ENSP00000389998:p.Gly744Glu					TMEM67_ENST00000409623.3_Missense_Mutation_p.G663E	p.G744E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		21	2289	+	Breast(36;4.14e-07)		744					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.2231G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201389	0.38905	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97114	-4.25;-4.25	5.51	3.59	0.41128	.	0.052740	0.85682	D	0.000000	D	0.95909	0.8668	L	0.53249	1.67	0.58432	D	0.999993	P;P;P	0.47604	0.801;0.898;0.876	B;P;B	0.47346	0.435;0.544;0.409	D	0.94838	0.8002	10	0.41790	T	0.15	-10.5498	13.5987	0.62007	0.0:0.4612:0.5388:0.0	.	744;663;663	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	E	744;663	ENSP00000389998:G744E;ENSP00000386966:G663E	ENSP00000314488:G734E	G	+	2	0	TMEM67	94881152	0.999000	0.42202	0.929000	0.37066	0.991000	0.79684	3.050000	0.49877	1.314000	0.45095	0.637000	0.83480	GGA		0.363	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		26	46	0	0	0	1	0	26	46				
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5032-5034)cGg>cAg		vacuolar protein sorting 13 homolog B (yeast)							76.0	77.0	77.0					8																	100587894		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100587894G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5033G>A	8.37:g.100587894G>A	ENSP00000351346:p.Arg1678Gln					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	p.R1678Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		32	5144	+	Breast(36;3.73e-07)		1678					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5033G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684020|4.684020	0.88639|0.88639	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|T;T	.|0.69561	.|-0.41;-0.4	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.992	T|T	0.74682|0.74682	-0.3583|-0.3583	5|10	.|0.24483	.|T	.|0.36	.|.	19.5096|19.5096	0.95135|0.95135	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1653;1678	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	S|Q	41|1653;1678	.|ENSP00000349685:R1653Q;ENSP00000351346:R1678Q	.|ENSP00000349685:R1653Q	G|R	+|+	1|2	0|0	VPS13B|VPS13B	100657070|100657070	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.971000|0.971000	0.66376|0.66376	9.015000|9.015000	0.93640|0.93640	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		51	57	0	0	0	1	0	51	57				
HLA-G	3135	broad.mit.edu	37	6	29797302	29797302	+	Missense_Mutation	SNP	C	C	T	rs45530733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29797302C>T	ENST00000360323.6	+	4	751	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	HLA-G_ENST00000376828.2_Missense_Mutation_p.R248W|HLA-G_ENST00000376818.3_Missense_Mutation_p.R151W|HLA-G_ENST00000428701.1_Missense_Mutation_p.R243W|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	243	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GACCTGGCAGCGGGATGGGGA	0.627																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(727-729)Cgg>Tgg		major histocompatibility complex, class I, G							77.0	75.0	76.0					6																	29797302		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797302C>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.727C>T	6.37:g.29797302C>T	ENSP00000353472:p.Arg243Trp					HLA-G_ENST00000360323.6_Missense_Mutation_p.R243W|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Missense_Mutation_p.R151W|HLA-G_ENST00000376828.2_Missense_Mutation_p.R248W	p.R243W	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	905	+			243			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.727C>T	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	7.207	0.594675	0.13875	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	1.72	0.801	0.18679	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.250293	0.20311	U	0.094837	T	0.07413	0.0187	M	0.87900	2.915	0.21147	N	0.999776	D;D;D	0.89917	1.0;0.997;1.0	D;B;D	0.97110	1.0;0.429;0.958	T	0.09574	-1.0668	10	0.87932	D	0	.	4.0658	0.09859	0.2695:0.4654:0.2651:0.0	rs45530733	248;151;243	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	W	248;243;243;151	ENSP00000366024:R248W;ENSP00000412927:R243W;ENSP00000353472:R243W;ENSP00000366014:R151W	ENSP00000353472:R243W	R	+	1	2	HLA-G	29905281	0.005000	0.15991	0.018000	0.16275	0.033000	0.12548	-0.591000	0.05753	0.081000	0.16988	-0.702000	0.03669	CGG		0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		37	47	0	0	0	1	0	37	47				
MAPK1IP1L	93487	broad.mit.edu	37	14	55529374	55529374	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55529374C>A	ENST00000395468.4	+	3	234	c.57C>A	c.(55-57)acC>acA	p.T19T	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	19										endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCAAAACCTCTGCTGTGA	0.488																																						ENST00000395468.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(55-57)acC>acA		mitogen-activated protein kinase 1 interacting protein 1-like							45.0	47.0	46.0					14																	55529374		2203	4300	6503	SO:0001819	synonymous_variant	93487							g.chr14:55529374C>A	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.57C>A	14.37:g.55529374C>A						MAPK1IP1L_ENST00000554364.1_3'UTR	p.T19T	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN			3	234	+			19					B2RDD8|Q96BG5	Silent	SNP	ENST00000395468.4	37	c.57C>A	CCDS32085.1																																																																																				0.488	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		12	15	1	0	2.32078e-09	1	2.46314e-09	12	15				
GAREM	64762	broad.mit.edu	37	18	29850314	29850314	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29850314T>C	ENST00000269209.6	-	5	1602	c.1599A>G	c.(1597-1599)ccA>ccG	p.P533P	GAREM_ENST00000399218.4_Silent_p.P533P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	533	Necessary for interaction with GRB2.|Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTGGAACAGGTGGGGCGTTCA	0.607																																						ENST00000399218.4																			0											c.(1597-1599)ccA>ccG		GRB2 associated, regulator of MAPK1							101.0	86.0	91.0					18																	29850314		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29850314T>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1599A>G	18.37:g.29850314T>C						GAREM_ENST00000269209.6_Silent_p.P533P	p.P533P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					5	1654	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1599A>G	CCDS56057.1																																																																																				0.607	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		6	13	0	0	0	1	0	6	13				
ZBTB16	7704	broad.mit.edu	37	11	114118039	114118039	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114118039A>G	ENST00000335953.4	+	6	2124	c.1744A>G	c.(1744-1746)Aag>Gag	p.K582E	ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582E|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	582					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGTGGCAAGAAGTTCAGCCT	0.592																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1744-1746)Aag>Gag		zinc finger and BTB domain containing 16							97.0	77.0	84.0					11																	114118039		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114118039A>G	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1744A>G	11.37:g.114118039A>G	ENSP00000338157:p.Lys582Glu					RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582E	p.K582E	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	6	2124	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	582					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1744A>G	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	a	26.5	4.740421	0.89573	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.19250	2.16;2.16	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065068	0.64402	D	0.000012	T	0.31295	0.0792	N	0.16903	0.455	0.54753	D	0.999985	D	0.69078	0.997	D	0.80764	0.994	T	0.15407	-1.0438	10	0.52906	T	0.07	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	582	Q05516	ZBT16_HUMAN	E	582;582;459	ENSP00000338157:K582E;ENSP00000376721:K582E	ENSP00000309507:K459E	K	+	1	0	ZBTB16	113623249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.239000	0.95389	2.113000	0.64589	0.529000	0.55759	AAG		0.592	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		3	17	0	0	0	1	0	3	17				
FAM78A	286336	broad.mit.edu	37	9	134136239	134136239	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134136239C>T	ENST00000372271.3	-	2	1189	c.822G>A	c.(820-822)ccG>ccA	p.P274P	FAM78A_ENST00000372269.3_Silent_p.P271P|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	274										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TCACCACCAGCGGCTGCCCGT	0.577																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(820-822)ccG>ccA		family with sequence similarity 78, member A							68.0	74.0	72.0					9																	134136239		2203	4300	6503	SO:0001819	synonymous_variant	286336							g.chr9:134136239C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.822G>A	9.37:g.134136239C>T						FAM78A_ENST00000372269.3_Silent_p.P271P|FAM78A_ENST00000247295.4_5'UTR	p.P274P	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1189	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	274					Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	c.822G>A	CCDS6941.2																																																																																				0.577	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		8	94	0	0	0	1	0	8	94				
LAMB4	22798	broad.mit.edu	37	7	107671300	107671300	+	Missense_Mutation	SNP	G	G	A	rs145266740	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107671300G>A	ENST00000388781.3	-	32	5026	c.4943C>T	c.(4942-4944)gCg>gTg	p.A1648V	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1648V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1648V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1648	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGAACTTTCGCATTGACAGC	0.517													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16131	0.0		0.0	False		,,,				2504	0.0					ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4942-4944)gCg>gTg		laminin, beta 4		G	VAL/ALA	10,4396	16.8+/-37.8	0,10,2193	268.0	210.0	229.0		4943	-3.4	0.0	7	dbSNP_134	229	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMB4	NM_007356.2	64	0,12,6491	AA,AG,GG		0.0233,0.227,0.0923	benign	1648/1762	107671300	12,12994	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107671300G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4943C>T	7.37:g.107671300G>A	ENSP00000373433:p.Ala1648Val					LAMB4_ENST00000205386.4_Missense_Mutation_p.A1648V|LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1648V	p.A1648V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			32	5026	-			1648			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4943C>T	CCDS34732.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.022	-0.684606	0.03353	0.00227	2.33E-4	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.79554	1.29;1.29;-1.28;1.32	5.32	-3.44	0.04796	.	0.965279	0.08491	N	0.938002	T	0.55130	0.1901	N	0.03608	-0.345	0.09310	N	0.999991	B;B	0.18741	0.03;0.0	B;B	0.23574	0.047;0.0	T	0.50668	-0.8801	10	0.02654	T	1	.	12.4115	0.55469	0.3901:0.0:0.6099:0.0	.	1648;1648	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	V	1648;1648;674;1648	ENSP00000205386:A1648V;ENSP00000373433:A1648V;ENSP00000416562:A674V;ENSP00000373432:A1648V	ENSP00000205386:A1648V	A	-	2	0	LAMB4	107458536	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.285000	0.08410	-0.972000	0.03559	-1.336000	0.01259	GCG		0.517	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		55	70	0	0	0	1	0	55	70				
DNM1	1759	broad.mit.edu	37	9	131008675	131008675	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131008675G>T	ENST00000372923.3	+	16	1766	c.1674G>T	c.(1672-1674)gaG>gaT	p.E558D	DNM1_ENST00000475805.1_Missense_Mutation_p.E558D|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.E558D|MIR3154_ENST00000577829.1_RNA|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.E558D|DNM1_ENST00000341179.7_Missense_Mutation_p.E558D	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	558	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACCCACAGGAGAAAGAGAAGA	0.537																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1672-1674)gaG>gaT		dynamin 1							162.0	125.0	137.0					9																	131008675		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008675G>T	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.1674G>T	9.37:g.131008675G>T	ENSP00000362014:p.Glu558Asp					DNM1_ENST00000486160.1_Missense_Mutation_p.E558D|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.E558D|DNM1_ENST00000372923.3_Missense_Mutation_p.E558D|DNM1_ENST00000475805.1_Missense_Mutation_p.E558D	p.E558D	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1766	+			558			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1674G>T	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362431	0.61403	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.80422	2.495	0.80722	D	1	B;B	0.16603	0.018;0.008	B;B	0.24848	0.056;0.033	D	0.94131	0.7388	10	0.59425	D	0.04	-27.1498	17.6167	0.88069	0.0:0.0:1.0:0.0	.	558;558	Q05193;Q05193-3	DYN1_HUMAN;.	D	558;558;558;553;558;558;103	ENSP00000419225:E558D;ENSP00000345680:E558D;ENSP00000362014:E558D;ENSP00000377219:E558D;ENSP00000420045:E558D	ENSP00000345680:E558D	E	+	3	2	DNM1	130048496	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.461000	0.66699	2.379000	0.81126	0.498000	0.49722	GAG		0.537	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		10	28	1	0	3.07112e-06	1	3.18879e-06	10	28				
SFMBT1	51460	broad.mit.edu	37	3	52960107	52960107	+	Silent	SNP	G	G	A	rs144071796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52960107G>A	ENST00000394752.3	-	10	1453	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	SFMBT1_ENST00000394750.1_Silent_p.D357D|SFMBT1_ENST00000358080.2_Silent_p.D357D|SFMBT1_ENST00000296295.6_Silent_p.D357D	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	357					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGTCAGCCCAGTCAAAGTCCT	0.592																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1069-1071)gaC>gaT		Scm-like with four mbt domains 1							162.0	139.0	147.0					3																	52960107		2203	4300	6503	SO:0001819	synonymous_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52960107G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1071C>T	3.37:g.52960107G>A						SFMBT1_ENST00000296295.6_Silent_p.D357D|SFMBT1_ENST00000394750.1_Silent_p.D357D|SFMBT1_ENST00000358080.2_Silent_p.D357D	p.D357D	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	10	1453	-			357					Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	c.1071C>T	CCDS2867.1																																																																																				0.592	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		24	59	0	0	0	1	0	24	59				
MORC1	27136	broad.mit.edu	37	3	108677852	108677852	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108677852C>A	ENST00000483760.1	-	27	2895	c.2852G>T	c.(2851-2853)aGa>aTa	p.R951I	MORC1_ENST00000232603.5_Missense_Mutation_p.R972I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						taaagggagtctatgtcttgc	0.299																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2914-2916)aGa>aTa		MORC family CW-type zinc finger 1							38.0	39.0	39.0					3																	108677852		2203	4298	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108677852C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2852G>T	3.37:g.108677852C>A	ENSP00000417282:p.Arg951Ile					MORC1_ENST00000483760.1_Missense_Mutation_p.R951I	p.R972I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			28	2997	-			972						Missense_Mutation	SNP	ENST00000483760.1	37	c.2915G>T		.	.	.	.	.	.	.	.	.	.	C	9.844	1.191701	0.21954	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05996	3.37;3.36	4.89	-7.64	0.01286	.	3.493390	0.00616	N	0.000437	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.40346	-0.9568	10	0.72032	D	0.01	2.6232	2.9736	0.05930	0.1036:0.1819:0.3992:0.3153	.	951;972	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	972;951	ENSP00000232603:R972I;ENSP00000417282:R951I	ENSP00000232603:R972I	R	-	2	0	MORC1	110160542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-1.235000	0.02545	0.650000	0.86243	AGA		0.299	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			18	19	1	0	1.99824e-07	1	2.09433e-07	18	19				
CCDC132	55610	broad.mit.edu	37	7	92970798	92970798	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92970798G>A	ENST00000305866.5	+	23	2246	c.2118G>A	c.(2116-2118)gtG>gtA	p.V706V	CCDC132_ENST00000544910.1_Silent_p.V676V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.V426V|CCDC132_ENST00000541136.1_Silent_p.V517V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	706						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGAGAAGGTGCCAAGTCCAC	0.448																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2026-2028)gtG>gtA		coiled-coil domain containing 132							130.0	137.0	135.0					7																	92970798		1993	4172	6165	SO:0001819	synonymous_variant	55610							g.chr7:92970798G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2118G>A	7.37:g.92970798G>A						CCDC132_ENST00000541136.1_Silent_p.V517V|CCDC132_ENST00000535481.1_Silent_p.V426V|CCDC132_ENST00000305866.5_Silent_p.V706V|CCDC132_ENST00000474412.1_3'UTR	p.V676V	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		24	2248	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		706					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.2028G>A	CCDS43617.1																																																																																				0.448	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		7	44	0	0	0	1	0	7	44				
ZNF236	7776	broad.mit.edu	37	18	74640018	74640018	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74640018C>T	ENST00000253159.8	+	25	4742	c.4544C>T	c.(4543-4545)aCg>aTg	p.T1515M	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1517M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1515					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCACTGCCACGTCTTCCTCG	0.522																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4543-4545)aCg>aTg		zinc finger protein 236							43.0	46.0	45.0					18																	74640018		1899	4115	6014	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74640018C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4544C>T	18.37:g.74640018C>T	ENSP00000253159:p.Thr1515Met					ZNF236_ENST00000320610.9_Missense_Mutation_p.T1517M	p.T1515M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	25	4742	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1515					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4544C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827708	0.32329	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T;T	0.12465	2.68;2.83;2.84	5.07	4.2	0.49525	.	0.994651	0.08164	N	0.988062	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	0.999999	P	0.43024	0.798	B	0.34385	0.181	T	0.29305	-1.0016	10	0.27082	T	0.32	.	13.4092	0.60933	0.0:0.924:0.0:0.0759	.	1515	Q9UL36	ZN236_HUMAN	M	1515	ENSP00000253159:T1515M;ENSP00000444524:T1515M;ENSP00000322361:T1515M	ENSP00000253159:T1515M	T	+	2	0	ZNF236	72769006	0.015000	0.18098	0.000000	0.03702	0.430000	0.31655	2.241000	0.43097	1.278000	0.44430	0.579000	0.79373	ACG		0.522	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			29	36	0	0	0	1	0	29	36				
ZNF256	10172	broad.mit.edu	37	19	58454003	58454003	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58454003G>A	ENST00000282308.3	-	3	369	c.173C>T	c.(172-174)gCa>gTa	p.A58V	ZNF256_ENST00000598928.1_Nonsense_Mutation_p.Q16*	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTCATCCCCTGCTCCAGAACC	0.527																																					NSCLC(55;1313 1552 8040 11996)	ENST00000598928.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(46-48)Cag>Tag		zinc finger protein 256							79.0	80.0	80.0					19																	58454003		2201	4292	6493	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58454003G>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.173C>T	19.37:g.58454003G>A	ENSP00000282308:p.Ala58Val					ZNF256_ENST00000282308.3_Missense_Mutation_p.A58V	p.Q16*			Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	2	246	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	0			KRAB.		B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	c.46C>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	3.969	-0.008825	0.07727	.	.	ENSG00000152454	ENST00000282308	T	0.07114	3.22	3.04	-0.431	0.12295	Krueppel-associated box (3);	.	.	.	.	T	0.03305	0.0096	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45571	-0.9252	9	0.26408	T	0.33	.	5.2845	0.15694	0.4481:0.0:0.5519:0.0	.	58	Q9Y2P7	ZN256_HUMAN	V	58	ENSP00000282308:A58V	ENSP00000282308:A58V	A	-	2	0	ZNF256	63145815	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-2.065000	0.01386	-0.001000	0.14495	0.467000	0.42956	GCA		0.527	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			28	37	0	0	0	1	0	28	37				
OXR1	55074	broad.mit.edu	37	8	107715136	107715136	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:107715136C>T	ENST00000442977.2	+	7	780	c.681C>T	c.(679-681)ggC>ggT	p.G227G	OXR1_ENST00000531443.1_Silent_p.G226G|OXR1_ENST00000312046.6_Silent_p.G219G|OXR1_ENST00000517566.2_Silent_p.G226G|OXR1_ENST00000445937.1_Silent_p.G226G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.G159G	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	227	GRAM.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CACCTTAGGGCACAGTCAGTG	0.343																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(676-678)ggC>ggT		oxidation resistance 1							77.0	74.0	75.0					8																	107715136		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107715136C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.681C>T	8.37:g.107715136C>T						OXR1_ENST00000517566.2_Silent_p.G226G|OXR1_ENST00000312046.6_Silent_p.G219G|OXR1_ENST00000531443.1_Silent_p.G226G|OXR1_ENST00000442977.2_Silent_p.G227G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.G159G	p.G226G	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	939	+			227			GRAM.		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.678C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747532	0.15710	.	.	ENSG00000164830	ENST00000517455	.	.	.	5.27	-2.3	0.06785	.	.	.	.	.	T	0.48314	0.1493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-20.8703	5.1693	0.15101	0.2944:0.254:0.0:0.4516	.	.	.	.	V	143	.	.	A	+	2	0	OXR1	107784312	0.966000	0.33281	0.982000	0.44146	0.954000	0.61252	0.003000	0.13083	-0.430000	0.07318	-0.142000	0.14014	GCA		0.343	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		13	25	0	0	0	1	0	13	25				
CWF19L2	143884	broad.mit.edu	37	11	107260807	107260807	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107260807G>A	ENST00000282251.5	-	12	1892	c.1865C>T	c.(1864-1866)gCa>gTa	p.A622V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A622V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	622							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TACCTTAGATGCCATTCTCAT	0.338																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1864-1866)gCa>gTa		CWF19-like 2, cell cycle control (S. pombe)							150.0	123.0	132.0					11																	107260807		2201	4294	6495	SO:0001583	missense	143884						catalytic activity	g.chr11:107260807G>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1865C>T	11.37:g.107260807G>A	ENSP00000282251:p.Ala622Val					CWF19L2_ENST00000433523.1_Missense_Mutation_p.A622V	p.A622V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	12	1892	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	622					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1865C>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369056	0.61624	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.26810	1.71;1.71	5.81	4.89	0.63831	.	0.095264	0.64402	D	0.000001	T	0.23649	0.0572	L	0.45422	1.42	0.48395	D	0.999647	B	0.24043	0.096	B	0.23419	0.046	T	0.02698	-1.1122	10	0.48119	T	0.1	-11.4695	13.0271	0.58821	0.0798:0.0:0.9202:0.0	.	622	Q2TBE0	C19L2_HUMAN	V	622	ENSP00000282251:A622V;ENSP00000387533:A622V	ENSP00000282251:A622V	A	-	2	0	CWF19L2	106766017	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.402000	0.66332	2.739000	0.93911	0.563000	0.77884	GCA		0.338	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		9	31	0	0	0	1	0	9	31				
MKNK2	2872	broad.mit.edu	37	19	2043567	2043567	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2043567C>T	ENST00000591601.1	-	5	389	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MKNK2_ENST00000250896.3_Silent_p.Q118Q|MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.Q118Q			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGCCTGGCTGCTTCTCAA	0.592																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(352-354)caG>caA		MAP kinase interacting serine/threonine kinase 2							133.0	90.0	105.0					19																	2043567		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043567C>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.354G>A	19.37:g.2043567C>T						MKNK2_ENST00000541165.1_5'UTR|MKNK2_ENST00000309340.7_Silent_p.Q118Q|MKNK2_ENST00000591601.1_Silent_p.Q118Q	p.Q118Q	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_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)	6	598	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	118			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.354G>A	CCDS12080.1																																																																																				0.592	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		10	18	0	0	0	1	0	10	18				
PDGFB	5155	broad.mit.edu	37	22	39629517	39629517	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39629517G>A	ENST00000331163.6	-	3	960	c.173C>T	c.(172-174)gCc>gTc	p.A58V	PDGFB_ENST00000381551.4_Missense_Mutation_p.A43V	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	58					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GTCCAACTCGGCCCCATCTTC	0.637			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(172-174)gCc>gTc		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						60.0	61.0	60.0					22																	39629517		2203	4300	6503	SO:0001583	missense	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39629517G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.173C>T	22.37:g.39629517G>A	ENSP00000330382:p.Ala58Val					PDGFB_ENST00000381551.4_Missense_Mutation_p.A43V	p.A58V	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			3	960	-	Melanoma(58;0.04)		58					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	ENST00000331163.6	37	c.173C>T	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543786	0.65198	.	.	ENSG00000100311	ENST00000331163;ENST00000381551;ENST00000455790;ENST00000440375	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.28	5.28	0.74379	Platelet-derived growth factor, N-terminal (1);	0.839482	0.09337	U	0.816076	T	0.53045	0.1772	L	0.38175	1.15	0.09310	N	1	D;D	0.58970	0.984;0.976	P;P	0.60173	0.87;0.6	T	0.48269	-0.9050	10	0.29301	T	0.29	-8.2268	15.6134	0.76744	0.0:0.0:1.0:0.0	.	58;43	P01127;G3XAG8	PDGFB_HUMAN;.	V	58;43;27;27	ENSP00000330382:A58V;ENSP00000370963:A43V;ENSP00000402306:A27V;ENSP00000405780:A27V	ENSP00000330382:A58V	A	-	2	0	PDGFB	37959463	0.042000	0.20092	0.956000	0.39512	0.710000	0.40934	2.433000	0.44793	2.481000	0.83766	0.561000	0.74099	GCC		0.637	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		8	13	0	0	0	1	0	8	13				
RELN	5649	broad.mit.edu	37	7	103338506	103338506	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103338506G>T	ENST00000428762.1	-	10	1096	c.937C>A	c.(937-939)Ctc>Atc	p.L313I	RELN_ENST00000424685.2_Missense_Mutation_p.L313I|RELN_ENST00000343529.5_Missense_Mutation_p.L313I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	313					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAAGGTAGAGGATATGGATG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(937-939)Ctc>Atc		reelin							189.0	181.0	184.0					7																	103338506		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338506G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.937C>A	7.37:g.103338506G>T	ENSP00000392423:p.Leu313Ile					RELN_ENST00000343529.5_Missense_Mutation_p.L313I|RELN_ENST00000428762.1_Missense_Mutation_p.L313I	p.L313I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1096	-			313					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.937C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.036739	0.35893	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26810	1.71;1.71;1.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.20401	0.57	0.39424	D	0.966973	B;B	0.14805	0.011;0.007	B;B	0.13407	0.009;0.004	T	0.18713	-1.0328	10	0.27082	T	0.32	.	6.5145	0.22240	0.1057:0.0:0.717:0.1773	.	313;313	P78509-2;P78509	.;RELN_HUMAN	I	313	ENSP00000392423:L313I;ENSP00000345694:L313I;ENSP00000388446:L313I	ENSP00000345694:L313I	L	-	1	0	RELN	103125742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.220000	0.42908	2.891000	0.99171	0.651000	0.88453	CTC		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		39	65	1	0	4.0492e-12	1	4.37372e-12	39	65				
ZNF574	64763	broad.mit.edu	37	19	42583593	42583593	+	Missense_Mutation	SNP	C	C	T	rs376269644		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42583593C>T	ENST00000600245.1	+	2	1490	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.R279C|ZNF574_ENST00000222339.7_Missense_Mutation_p.R369C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	279					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.R279C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TTACGAGCTGCGCAATGGTGA	0.647																																						ENST00000600245.1																			1	Substitution - Missense(1)	p.R279C(1)	large_intestine(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(835-837)Cgc>Tgc		zinc finger protein 574		C	CYS/ARG	0,4406		0,0,2203	46.0	55.0	52.0		835	5.0	1.0	19		52	2,8596	2.2+/-6.3	0,2,4297	no	missense	ZNF574	NM_022752.5	180	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	279/897	42583593	2,13002	2203	4299	6502	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583593C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.835C>T	19.37:g.42583593C>T	ENSP00000469029:p.Arg279Cys					ZNF574_ENST00000359044.4_Missense_Mutation_p.R279C|ZNF574_ENST00000222339.7_Missense_Mutation_p.R369C|CTB-59C6.3_ENST00000594531.1_RNA	p.R279C			Q6ZN55	ZN574_HUMAN			2	1490	+		Prostate(69;0.059)	279					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.835C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522455	0.64747	0.0	2.33E-4	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06768	3.26;3.27	4.96	4.96	0.65561	.	0.250136	0.27710	N	0.018173	T	0.13200	0.0320	N	0.08118	0	0.40490	D	0.980532	D;D	0.89917	0.999;1.0	P;D	0.72338	0.898;0.977	T	0.35500	-0.9786	10	0.52906	T	0.07	-27.9299	15.7534	0.78005	0.0:1.0:0.0:0.0	.	279;368	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	C	369;279	ENSP00000222339:R369C;ENSP00000351939:R279C	ENSP00000222339:R369C	R	+	1	0	ZNF574	47275433	0.718000	0.27976	1.000000	0.80357	0.875000	0.50365	1.738000	0.38207	2.559000	0.86315	0.655000	0.94253	CGC		0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		18	36	0	0	0	1	0	18	36				
TMC6	11322	broad.mit.edu	37	17	76113374	76113374	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76113374G>A	ENST00000590602.1	-	18	2412	c.2253C>T	c.(2251-2253)tgC>tgT	p.C751C	TMC6_ENST00000392467.3_Silent_p.C751C|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.C751C|TMC6_ENST00000591436.1_Silent_p.C330C|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.C330C			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	751					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTTGAGCAGGCAGATGACCT	0.682																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(2251-2253)tgC>tgT		transmembrane channel-like 6							69.0	72.0	71.0					17																	76113374		2203	4300	6503	SO:0001819	synonymous_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76113374G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2253C>T	17.37:g.76113374G>A						TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Silent_p.C330C|TMC6_ENST00000322914.3_Silent_p.C751C|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Silent_p.C751C|TMC6_ENST00000322933.4_Silent_p.C330C	p.C751C			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	2412	-			751					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.2253C>T	CCDS32748.1																																																																																				0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			22	28	0	0	0	1	0	22	28				
DCAF4L2	138009	broad.mit.edu	37	8	88885836	88885836	+	Missense_Mutation	SNP	C	C	T	rs533225288		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:88885836C>T	ENST00000319675.3	-	1	460	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	122										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGATTAGGGACGTAGAGGGTT	0.547													C|||	0	0.0	0.0	0.0	5008	,	,		19592	0.0		0.0	False		,,,				2504	0.0					ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(364-366)Gtc>Atc		DDB1 and CUL4 associated factor 4-like 2							122.0	116.0	118.0					8																	88885836		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885836C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.364G>A	8.37:g.88885836C>T	ENSP00000316496:p.Val122Ile						p.V122I	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	460	-			122						Missense_Mutation	SNP	ENST00000319675.3	37	c.364G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258662	0.23051	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.085936	0.85682	D	0.000000	T	0.43233	0.1238	N	0.25647	0.755	0.19945	N	0.999948	B	0.21821	0.061	B	0.19391	0.025	T	0.21793	-1.0235	10	0.17832	T	0.49	.	0.1688	0.00111	0.3437:0.2486:0.19:0.2177	.	122	Q8NA75	DC4L2_HUMAN	I	122	ENSP00000316496:V122I	ENSP00000316496:V122I	V	-	1	0	DCAF4L2	88954952	1.000000	0.71417	0.002000	0.10522	0.019000	0.09904	2.648000	0.46647	-0.951000	0.03654	-0.518000	0.04402	GTC		0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		43	48	0	0	0	1	0	43	48				
GDNF	2668	broad.mit.edu	37	5	37815942	37815942	+	Silent	SNP	G	G	A	rs368244196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37815942G>A	ENST00000326524.2	-	3	646	c.447C>T	c.(445-447)tgC>tgT	p.C149C	GDNF_ENST00000515058.1_Silent_p.C123C|GDNF_ENST00000381826.4_Silent_p.C140C|GDNF_ENST00000344622.4_Silent_p.C123C|GDNF_ENST00000427982.1_Silent_p.C166C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	149					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C149C(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CAGCTGCATCGCAAGAGCCGC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17174	0.001		0.0	False		,,,				2504	0.0					ENST00000326524.2																			1	Substitution - coding silent(1)	p.C149C(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(445-447)tgC>tgT		glial cell derived neurotrophic factor		G	,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	116.0	116.0		447,498,420,369	-4.9	0.6	5		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GDNF	NM_000514.3,NM_001190468.1,NM_001190469.1,NM_199231.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	149/212,166/229,140/203,123/186	37815942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815942G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.447C>T	5.37:g.37815942G>A						GDNF_ENST00000381826.4_Silent_p.C140C|GDNF_ENST00000427982.1_Silent_p.C166C|GDNF_ENST00000515058.1_Silent_p.C123C|GDNF_ENST00000344622.4_Silent_p.C123C	p.C149C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	646	-	all_lung(31;0.00118)		149					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	c.447C>T	CCDS3922.1																																																																																				0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		38	53	0	0	0	1	0	38	53				
THOC7	80145	broad.mit.edu	37	3	63820887	63820887	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63820887G>A	ENST00000295899.5	-	7	602	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'Flank	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	164	Interaction with NIF3L1.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AACTGTTTCCGTCTCAATTCC	0.308																																					Colon(48;665 1127 6720 18651)	ENST00000295899.5																			0				central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4						c.(490-492)Cgg>Tgg		THO complex 7 homolog (Drosophila)							59.0	59.0	59.0					3																	63820887		2203	4299	6502	SO:0001583	missense	80145				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding	g.chr3:63820887G>A	BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.490C>T	3.37:g.63820887G>A	ENSP00000295899:p.Arg164Trp					C3orf49_ENST00000295896.8_Intron	p.R164W	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)	7	602	-			164			Interaction with NIF3L1.		Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	c.490C>T	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187236	0.57909	.	.	ENSG00000163634	ENST00000295899	.	.	.	6.01	4.21	0.49690	.	0.110458	0.64402	D	0.000010	T	0.56761	0.2007	M	0.67397	2.05	0.45477	D	0.998441	P	0.50617	0.937	B	0.40565	0.333	T	0.63924	-0.6527	9	0.87932	D	0	-4.3154	15.1417	0.72615	0.0:0.0:0.704:0.296	.	164	Q6I9Y2	THOC7_HUMAN	W	164	.	ENSP00000295899:R164W	R	-	1	2	THOC7	63795927	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.789000	0.47813	0.867000	0.35654	0.650000	0.86243	CGG		0.308	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075		18	50	0	0	0	1	0	18	50				
ATP7A	538	broad.mit.edu	37	X	77301979	77301979	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:77301979G>A	ENST00000341514.6	+	23	4570	c.4415G>A	c.(4414-4416)cGc>cAc	p.R1472H	ATP7A_ENST00000343533.5_Missense_Mutation_p.R1394H|ATP7A_ENST00000350425.4_Missense_Mutation_p.R475H	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1472					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTGATAAACGCTCCCTAAAC	0.443																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4414-4416)cGc>cAc		ATPase, Cu++ transporting, alpha polypeptide							179.0	178.0	178.0					X																	77301979		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301979G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4415G>A	X.37:g.77301979G>A	ENSP00000345728:p.Arg1472His					ATP7A_ENST00000343533.5_Missense_Mutation_p.R1394H|ATP7A_ENST00000350425.4_Missense_Mutation_p.R475H	p.R1472H	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4570	+			1472					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4415G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164335	0.38217	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.48522	0.81;0.81;0.81	4.9	4.03	0.46877	.	0.436817	0.24952	N	0.034281	T	0.17704	0.0425	N	0.02011	-0.69	0.38716	D	0.953343	B	0.29835	0.258	B	0.18871	0.023	T	0.09015	-1.0694	10	0.19590	T	0.45	-8.9748	8.8793	0.35365	0.1749:0.0:0.8251:0.0	.	1472	Q04656	ATP7A_HUMAN	H	1394;475;1472	ENSP00000343026:R1394H;ENSP00000343678:R475H;ENSP00000345728:R1472H	ENSP00000345728:R1472H	R	+	2	0	ATP7A	77188635	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	3.370000	0.52372	0.874000	0.35823	0.436000	0.28706	CGC		0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		96	32	0	0	0	1	0	96	32				
MSH4	4438	broad.mit.edu	37	1	76288159	76288159	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:76288159G>A	ENST00000263187.3	+	7	1159	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	352					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGACGACTTCGTTCTAATATA	0.333								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1054-1056)cGt>cAt	Mismatch excision repair (MMR)	mutS homolog 4							90.0	91.0	91.0					1																	76288159		2202	4294	6496	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76288159G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1055G>A	1.37:g.76288159G>A	ENSP00000263187:p.Arg352His						p.R352H	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			7	1159	+			352					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1055G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274229	0.95459	.	.	ENSG00000057468	ENST00000263187	D	0.93019	-3.15	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	M	0.83692	2.655	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.96872	0.9640	10	0.87932	D	0	-9.6787	20.1535	0.98095	0.0:0.0:1.0:0.0	.	352	O15457	MSH4_HUMAN	H	352	ENSP00000263187:R352H	ENSP00000263187:R352H	R	+	2	0	MSH4	76060747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.764000	0.94973	0.650000	0.86243	CGT		0.333	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		43	74	0	0	0	1	0	43	74				
FAM86HP	729375	broad.mit.edu	37	3	129824431	129824431	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129824431G>A	ENST00000500074.2	-	0	198									family with sequence similarity 86, member H, pseudogene																		CTCTGCCAGCGCCTCGTACAG	0.572																																						ENST00000500074.2																			0																																																			0							g.chr3:129824431G>A			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129824431G>A														0	198	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.572	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			8	12	0	0	0	1	0	8	12				
TBX15	6913	broad.mit.edu	37	1	119427790	119427790	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119427790G>A	ENST00000369429.3	-	8	1383	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	TBX15_ENST00000207157.3_Silent_p.G352G			Q96SF7	TBX15_HUMAN	T-box 15	458					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTTGCTGTTGCCAGGCAACG	0.562																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1372-1374)ggC>ggT		T-box 15							70.0	63.0	65.0					1																	119427790		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427790G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1374C>T	1.37:g.119427790G>A						TBX15_ENST00000207157.3_Silent_p.G352G	p.G458G			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1383	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	458					Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.1374C>T		.	.	.	.	.	.	.	.	.	.	G	3.060	-0.193548	0.06259	.	.	ENSG00000092607	ENST00000393149	.	.	.	5.31	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9441	0.64073	0.0728:0.0:0.9271:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBX15	119229313	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	4.854000	0.62918	1.468000	0.48064	0.561000	0.74099	.		0.562	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		4	34	0	0	0	1	0	4	34				
SETDB1	9869	broad.mit.edu	37	1	150936118	150936118	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150936118C>T	ENST00000271640.5	+	20	3760	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	SETDB1_ENST00000368969.4_Silent_p.S1190S|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGGGAGAGCGCACCTGTTC	0.498																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3568-3570)agC>agT		SET domain, bifurcated 1							178.0	173.0	175.0					1																	150936118		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936118C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3570C>T	1.37:g.150936118C>T						SETDB1_ENST00000368969.4_Silent_p.S1190S	p.S1190S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3760	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1190			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.3570C>T	CCDS44217.1																																																																																				0.498	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			44	79	0	0	0	1	0	44	79				
UNC93B1	81622	broad.mit.edu	37	11	67770520	67770520	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67770520C>T	ENST00000227471.2	-	3	443	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	122					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TAGAGCAGGGCGGCGATGGGA	0.627																																						ENST00000227471.2																			0											c.(364-366)Gcc>Acc		unc-93 homolog B1 (C. elegans)							83.0	89.0	87.0					11																	67770520		2176	4265	6441	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67770520C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.364G>A	11.37:g.67770520C>T	ENSP00000227471:p.Ala122Thr					UNC93B1_ENST00000530331.1_5'UTR	p.A122T	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN			3	443	-			122					O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.364G>A		.	.	.	.	.	.	.	.	.	.	C	18.23	3.577859	0.65878	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.43688	0.94;0.94	4.23	4.23	0.50019	.	0.236545	0.42420	D	0.000714	T	0.30386	0.0763	.	.	.	0.35752	D	0.819485	P	0.49447	0.924	B	0.35655	0.207	T	0.45483	-0.9258	9	0.33940	T	0.23	-14.4109	15.5501	0.76145	0.0:1.0:0.0:0.0	.	122	Q9H1C4	UN93B_HUMAN	T	122;51	ENSP00000227471:A122T;ENSP00000437195:A51T	ENSP00000227471:A122T	A	-	1	0	UNC93B1	67527096	1.000000	0.71417	0.769000	0.31535	0.867000	0.49689	5.828000	0.69307	2.047000	0.60756	0.561000	0.74099	GCC		0.627	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		3	9	0	0	0	1	0	3	9				
JMJD1C	221037	broad.mit.edu	37	10	64973446	64973446	+	Silent	SNP	C	C	T	rs548904134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64973446C>T	ENST00000399262.2	-	8	2699	c.2481G>A	c.(2479-2481)gcG>gcA	p.A827A	JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Silent_p.A645A|JMJD1C_ENST00000402544.1_Silent_p.A608A|JMJD1C_ENST00000399251.1_Silent_p.A608A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	827					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTGTGCTAGCGCTAAGTGGC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22003	0.0		0.0	False		,,,				2504	0.0					ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2479-2481)gcG>gcA		jumonji domain containing 1C							79.0	79.0	79.0					10																	64973446		2130	4249	6379	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973446C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2481G>A	10.37:g.64973446C>T						JMJD1C_ENST00000542921.1_Silent_p.A645A|JMJD1C_ENST00000402544.1_Silent_p.A608A|JMJD1C_ENST00000399251.1_Silent_p.A608A	p.A827A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2699	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		827					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.2481G>A	CCDS41532.1																																																																																				0.498	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		10	21	0	0	0	1	0	10	21				
NBEAL1	65065	broad.mit.edu	37	2	204009786	204009786	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204009786A>G	ENST00000449802.1	+	32	5453	c.5120A>G	c.(5119-5121)gAg>gGg	p.E1707G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1707										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGGTCATGAGAACATGGCA	0.328																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5119-5121)gAg>gGg		neurobeachin-like 1							84.0	79.0	80.0					2																	204009786		1828	4079	5907	SO:0001583	missense	65065						binding	g.chr2:204009786A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5120A>G	2.37:g.204009786A>G	ENSP00000399903:p.Glu1707Gly						p.E1707G	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			32	5453	+			1707					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5120A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937024	0.52972	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56444	0.46	5.79	3.42	0.39159	.	0.096535	0.64402	N	0.000001	T	0.51024	0.1650	M	0.67953	2.075	0.58432	D	0.999999	P;P	0.48294	0.908;0.908	P;P	0.44422	0.449;0.449	T	0.45101	-0.9284	10	0.34782	T	0.22	.	9.6496	0.39888	0.8581:0.0:0.1419:0.0	.	1707;1696	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	1707	ENSP00000399903:E1707G	ENSP00000344985:E1707G	E	+	2	0	NBEAL1	203718031	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.939000	0.70179	0.470000	0.27294	0.528000	0.53228	GAG		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			8	7	0	0	0	1	0	8	7				
NBEAL2	23218	broad.mit.edu	37	3	47049880	47049880	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47049880C>T	ENST00000450053.3	+	51	8006	c.7827C>T	c.(7825-7827)tcC>tcT	p.S2609S	NBEAL2_ENST00000292309.5_Silent_p.S2425S|NBEAL2_ENST00000383740.2_Silent_p.S858S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2609					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATTGGGGTCCGAAGGCCAGA	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(7825-7827)tcC>tcT		neurobeachin-like 2							49.0	48.0	48.0					3																	47049880		2041	4186	6227	SO:0001819	synonymous_variant	23218						binding	g.chr3:47049880C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7827C>T	3.37:g.47049880C>T						NBEAL2_ENST00000292309.5_Silent_p.S2425S|NBEAL2_ENST00000383740.2_Silent_p.S858S	p.S2609S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	51	8006	+		Acute lymphoblastic leukemia(5;0.0534)	2609					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.7827C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.838|8.838	0.941482|0.941482	0.18281|0.18281	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	5.15|5.15	-3.61|-3.61	0.04556|0.04556	.|.	.|.	.|.	.|.	.|.	T|.	0.36552|.	0.0971|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35525|.	-0.9785|.	4|.	.|.	.|.	.|.	.|.	0.9244|0.9244	0.01321|0.01321	0.2502:0.3119:0.1285:0.3093|0.2502:0.3119:0.1285:0.3093	.|.	.|.	.|.	.|.	L|X	1897|948	.|.	.|.	P|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47024884|47024884	0.001000|0.001000	0.12720|0.12720	0.988000|0.988000	0.46212|0.46212	0.899000|0.899000	0.52679|0.52679	-1.417000|-1.417000	0.02464|0.02464	-0.420000|-0.420000	0.07427|0.07427	-0.459000|-0.459000	0.05422|0.05422	CCG|CGA		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		13	15	0	0	0	1	0	13	15				
CCBE1	147372	broad.mit.edu	37	18	57105347	57105347	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:57105347G>T	ENST00000439986.4	-	10	1020	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	CCBE1_ENST00000398179.2_Missense_Mutation_p.S57Y	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	328	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ACTTACTGGAGACCCTCTGGG	0.517																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(982-984)tCt>tAt		collagen and calcium binding EGF domains 1							53.0	47.0	49.0					18																	57105347		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57105347G>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.983C>A	18.37:g.57105347G>T	ENSP00000404464:p.Ser328Tyr					CCBE1_ENST00000398179.2_Missense_Mutation_p.S57Y	p.S328Y	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			10	1020	-		Colorectal(73;0.175)	328			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.983C>A	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108800	0.77096	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	T;D	0.83992	-0.42;-1.79	5.58	5.58	0.84498	.	0.329868	0.36268	N	0.002683	D	0.89230	0.6656	M	0.64170	1.965	0.36248	D	0.853722	D;D;D	0.67145	0.995;0.996;0.986	P;P;P	0.62014	0.885;0.897;0.814	D	0.91892	0.5524	10	0.66056	D	0.02	-24.4197	18.3555	0.90356	0.0:0.0:1.0:0.0	.	57;328;137	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	Y	328;57	ENSP00000404464:S328Y;ENSP00000381241:S57Y	ENSP00000381241:S57Y	S	-	2	0	CCBE1	55256327	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.948000	0.63590	2.604000	0.88044	0.655000	0.94253	TCT		0.517	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		7	16	1	0	0.000274275	1	0.000279654	7	16				
SGTA	6449	broad.mit.edu	37	19	2767626	2767626	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2767626C>T	ENST00000221566.2	-	3	320	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	53					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGAGGGAGCGCAAGGTCAC	0.597																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(157-159)gcG>gcA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							62.0	53.0	56.0					19																	2767626		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2767626C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.159G>A	19.37:g.2767626C>T							p.A53A	NM_003021.3	NP_003012.1	O43765	SGTA_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)	3	320	-		Hepatocellular(1079;0.137)	53					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.159G>A	CCDS12094.1																																																																																				0.597	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		9	21	0	0	0	1	0	9	21				
OLFM2	93145	broad.mit.edu	37	19	9965200	9965200	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9965200C>T	ENST00000264833.4	-	6	1212	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G265S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	343	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACGATGTTGCCCGCGTTCTGG	0.642																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1027-1029)Ggc>Agc		olfactomedin 2							70.0	65.0	67.0					19																	9965200		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965200C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1027G>A	19.37:g.9965200C>T	ENSP00000264833:p.Gly343Ser					OLFM2_ENST00000590841.1_Missense_Mutation_p.G265S	p.G343S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1212	-			343			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1027G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916081	0.92178	.	.	ENSG00000105088	ENST00000264833	D	0.89552	-2.53	4.36	4.36	0.52297	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94134	0.7391	9	.	.	.	.	14.4229	0.67196	0.0:1.0:0.0:0.0	.	343	O95897	NOE2_HUMAN	S	343	ENSP00000264833:G343S	.	G	-	1	0	OLFM2	9826200	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.556000	0.82233	2.239000	0.73571	0.561000	0.74099	GGC		0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			20	34	0	0	0	1	0	20	34				
GATA4	2626	broad.mit.edu	37	8	11614576	11614576	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:11614576G>T	ENST00000335135.4	+	6	1688	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	GATA4_ENST00000528712.1_Missense_Mutation_p.S171I|GATA4_ENST00000532059.1_Missense_Mutation_p.S378I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	377			S -> G (in dbSNP:rs3729856).		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TACGGGCACAGCAGCTCCGTG	0.652																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(1129-1131)aGc>aTc		GATA binding protein 4							77.0	59.0	65.0					8																	11614576		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11614576G>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1130G>T	8.37:g.11614576G>T	ENSP00000334458:p.Ser377Ile					GATA4_ENST00000528712.1_Missense_Mutation_p.S171I|GATA4_ENST00000532059.1_Missense_Mutation_p.S378I	p.S377I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	6	1688	+	all_epithelial(15;0.0839)		377		S -> G (in dbSNP:rs3729856).			B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.1130G>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355486	0.41700	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99014	-5.33;-5.11;-4.72;-4.72	5.83	4.96	0.65561	.	0.470389	0.23169	N	0.051149	D	0.97489	0.9178	L	0.53249	1.67	0.40147	D	0.976905	B;B	0.20671	0.047;0.047	B;B	0.17979	0.02;0.02	D	0.96753	0.9555	10	0.42905	T	0.14	-21.9862	12.9941	0.58635	0.0:0.5232:0.4768:0.0	.	378;377	B7ZKZ4;P43694	.;GATA4_HUMAN	I	171;171;377;376;378	ENSP00000435043:S171I;ENSP00000435347:S171I;ENSP00000334458:S377I;ENSP00000435712:S378I	ENSP00000259090:S376I	S	+	2	0	GATA4	11651985	0.977000	0.34250	0.999000	0.59377	0.601000	0.36947	2.483000	0.45233	1.455000	0.47813	0.655000	0.94253	AGC		0.652	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		20	24	1	0	3.51602e-12	1	3.7986e-12	20	24				
HOXB4	3214	broad.mit.edu	37	17	46655264	46655264	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46655264C>T	ENST00000332503.5	-	1	2209	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	140					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGGTAGACGACGGGCTCTTTG	0.697																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(418-420)Gtc>Atc		homeobox B4							24.0	28.0	27.0					17																	46655264		2160	4209	6369	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655264C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.418G>A	17.37:g.46655264C>T	ENSP00000328928:p.Val140Ile					HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron	p.V140I	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	2209	-			140					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.418G>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	8.484	0.860414	0.17178	.	.	ENSG00000182742	ENST00000332503	D	0.91011	-2.77	3.99	0.864	0.19068	.	0.071696	0.53938	D	0.000044	T	0.78547	0.4300	L	0.31294	0.92	0.46241	D	0.99894	P	0.36616	0.561	B	0.23150	0.044	T	0.69213	-0.5204	10	0.30078	T	0.28	.	7.7878	0.29101	0.0:0.7056:0.0:0.2944	.	140	P17483	HXB4_HUMAN	I	140	ENSP00000328928:V140I	ENSP00000328928:V140I	V	-	1	0	HOXB4	44010263	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	2.878000	0.48515	0.208000	0.20626	-0.229000	0.12294	GTC		0.697	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			11	17	0	0	0	1	0	11	17				
TACC3	10460	broad.mit.edu	37	4	1739054	1739054	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1739054C>A	ENST00000313288.4	+	9	1941	c.1835C>A	c.(1834-1836)cCt>cAt	p.P612H		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	612					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTGGACATTCCTGTAAGTCCT	0.517																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e9+1		transforming, acidic coiled-coil containing protein 3							146.0	117.0	127.0					4																	1739054		2203	4300	6503	SO:0001630	splice_region_variant	10460					centrosome		g.chr4:1739054C>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1836+1C>A	4.37:g.1739054C>A							p.P612_splice	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		9	1941	+		Breast(71;0.212)|all_epithelial(65;0.241)	612					Q2NKK4|Q3KQS5|Q9UMQ1	Splice_Site	SNP	ENST00000313288.4	37	c.1836_splice	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970920	0.53614	.	.	ENSG00000013810	ENST00000313288	T	0.11604	2.76	4.4	4.4	0.53042	.	0.243781	0.28338	N	0.015712	T	0.30916	0.0780	M	0.73217	2.22	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.87578	0.829;0.998;0.994	T	0.03413	-1.1039	10	0.87932	D	0	-14.1612	12.8613	0.57915	0.0:1.0:0.0:0.0	.	612;612;612	Q2NKK4;B4DYJ1;Q9Y6A5	.;.;TACC3_HUMAN	H	612	ENSP00000326550:P612H	ENSP00000326550:P612H	P	+	2	0	TACC3	1708852	0.016000	0.18221	0.009000	0.14445	0.005000	0.04900	3.017000	0.49615	2.172000	0.68678	0.555000	0.69702	CCT		0.517	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		Missense_Mutation	6	6	1	0	6.5536e-12	1	7.07361e-12	6	6				
SURF6	6838	broad.mit.edu	37	9	136200595	136200595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136200595G>A	ENST00000372022.4	-	3	617	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	118					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		AGTCGCTGTCGCAGAACATCC	0.642																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(352-354)Cga>Tga		surfeit 6							56.0	52.0	53.0					9																	136200595		2203	4300	6503	SO:0001587	stop_gained	6838					granular component	DNA binding|RNA binding	g.chr9:136200595G>A	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.352C>T	9.37:g.136200595G>A	ENSP00000361092:p.Arg118*						p.R118*	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	3	617	-			118					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Nonsense_Mutation	SNP	ENST00000372022.4	37	c.352C>T	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161168	0.97338	.	.	ENSG00000148296	ENST00000372022	.	.	.	4.62	0.264	0.15607	.	0.059729	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.337	7.733	0.28797	0.0784:0.0:0.3959:0.5258	.	.	.	.	X	118	.	ENSP00000361092:R118X	R	-	1	2	SURF6	135190416	0.997000	0.39634	0.258000	0.24420	0.783000	0.44284	1.289000	0.33307	-0.275000	0.09219	0.655000	0.94253	CGA		0.642	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		9	7	0	0	0	1	0	9	7				
RGL3	57139	broad.mit.edu	37	19	11527672	11527672	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11527672C>A	ENST00000380456.3	-	3	272	c.209G>T	c.(208-210)aGg>aTg	p.R70M	RGL3_ENST00000393423.3_Missense_Mutation_p.R70M	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	70	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCGCGCTGCCCTCAGCACCCT	0.632																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(208-210)aGg>aTg		ral guanine nucleotide dissociation stimulator-like 3							54.0	54.0	54.0					19																	11527672		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527672C>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.209G>T	19.37:g.11527672C>A	ENSP00000369823:p.Arg70Met					RGL3_ENST00000393423.3_Missense_Mutation_p.R70M	p.R70M	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			3	272	-			70			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.209G>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927799	0.34002	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.52057	0.68;0.68	4.2	1.92	0.25849	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.103997	0.64402	D	0.000011	T	0.63698	0.2533	M	0.80422	2.495	0.36957	D	0.893165	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.969;0.995;0.993	T	0.68217	-0.5467	10	0.87932	D	0	.	6.315	0.21186	0.0:0.7014:0.1913:0.1074	.	70;70;70	B4DPC9;Q3MIN7;B5ME84	.;RGL3_HUMAN;.	M	70	ENSP00000377075:R70M;ENSP00000369823:R70M	ENSP00000369823:R70M	R	-	2	0	RGL3	11388672	0.998000	0.40836	0.096000	0.21009	0.051000	0.14879	1.431000	0.34925	0.819000	0.34492	0.561000	0.74099	AGG		0.632	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	10	1	0	0.000602214	1	0.000612743	4	10				
LDOC1L	84247	broad.mit.edu	37	22	44892880	44892880	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44892880C>T	ENST00000341255.3	-	2	1066	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	186										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GATTTGGGCGCGCCGCGCATG	0.627																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(556-558)cGc>cAc		leucine zipper, down-regulated in cancer 1-like							31.0	34.0	33.0					22																	44892880		2202	4300	6502	SO:0001583	missense	84247							g.chr22:44892880C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.557G>A	22.37:g.44892880C>T	ENSP00000340434:p.Arg186His						p.R186H	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	1066	-		Ovarian(80;0.024)|all_neural(38;0.0416)	186					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.557G>A	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185950	0.78789	.	.	ENSG00000188636	ENST00000341255	T	0.19806	2.12	3.22	3.22	0.36961	.	0.836729	0.09983	N	0.730766	T	0.24661	0.0598	N	0.14661	0.345	0.30353	N	0.784544	D	0.63880	0.993	P	0.60117	0.869	T	0.12116	-1.0560	10	0.48119	T	0.1	-8.6904	10.2051	0.43107	0.0:1.0:0.0:0.0	.	186	Q6ICC9	LDOCL_HUMAN	H	186	ENSP00000340434:R186H	ENSP00000340434:R186H	R	-	2	0	LDOC1L	43271544	0.968000	0.33430	0.988000	0.46212	0.770000	0.43624	3.073000	0.50057	2.104000	0.64026	0.585000	0.79938	CGC		0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		6	6	0	0	0	1	0	6	6				
PARP14	54625	broad.mit.edu	37	3	122433212	122433212	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122433212C>A	ENST00000474629.2	+	12	4202	c.3936C>A	c.(3934-3936)tcC>tcA	p.S1312S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1312	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTTCAGTTTCCTCTGTTTTGC	0.418																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3934-3936)tcC>tcA		poly (ADP-ribose) polymerase family, member 14							67.0	63.0	64.0					3																	122433212		1866	4102	5968	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433212C>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3936C>A	3.37:g.122433212C>A							p.S1312S	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4202	+			1312			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.3936C>A	CCDS46894.1																																																																																				0.418	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	13	1	0	3.86212e-05	1	3.97146e-05	10	13				
CDC7	8317	broad.mit.edu	37	1	91978651	91978651	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:91978651C>T	ENST00000428239.1	+	7	868	c.609C>T	c.(607-609)acC>acT	p.T203T	CDC7_ENST00000430031.2_Silent_p.T175T|CDC7_ENST00000234626.6_Silent_p.T203T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCCAAGGAACCCATGATACGA	0.363																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(607-609)acC>acT		cell division cycle 7							62.0	65.0	64.0					1																	91978651		2203	4300	6503	SO:0001819	synonymous_variant	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978651C>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.609C>T	1.37:g.91978651C>T						CDC7_ENST00000430031.2_Silent_p.T175T|CDC7_ENST00000234626.6_Silent_p.T203T	p.T203T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	868	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	203			Protein kinase.		D3DT31|O00558|Q5T5U5	Silent	SNP	ENST00000428239.1	37	c.609C>T	CCDS734.1																																																																																				0.363	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		28	37	0	0	0	1	0	28	37				
ATF7IP	55729	broad.mit.edu	37	12	14619487	14619487	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14619487C>A	ENST00000540793.1	+	9	2980	c.2825C>A	c.(2824-2826)gCt>gAt	p.A942D	ATF7IP_ENST00000544627.1_Missense_Mutation_p.A950D|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A942D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A941D			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	942					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACAATAGATGCTTCTGTCAGT	0.294																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(2848-2850)gCt>gAt		activating transcription factor 7 interacting protein							84.0	85.0	85.0					12																	14619487		2203	4294	6497	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14619487C>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2825C>A	12.37:g.14619487C>A	ENSP00000444589:p.Ala942Asp					ATF7IP_ENST00000543189.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A941D|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A942D|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A942D	p.A950D			Q6VMQ6	MCAF1_HUMAN			10	3169	+			942					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2849C>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377545	0.24944	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18960	2.18;2.19;2.18;2.18;2.18	5.78	4.9	0.64082	.	0.622226	0.15999	N	0.234386	T	0.19725	0.0474	L	0.36672	1.1	0.32684	N	0.515126	B;B;B;B	0.30281	0.275;0.275;0.039;0.039	B;B;B;B	0.30782	0.12;0.12;0.046;0.064	T	0.18587	-1.0332	10	0.59425	D	0.04	-4.1519	13.0255	0.58812	0.0:0.9246:0.0:0.0754	.	941;942;941;553	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	D	942;941;941;950;942	ENSP00000261168:A942D;ENSP00000443179:A941D;ENSP00000445955:A941D;ENSP00000440440:A950D;ENSP00000444589:A942D	ENSP00000261168:A942D	A	+	2	0	ATF7IP	14510754	0.598000	0.26882	0.981000	0.43875	0.021000	0.10359	0.927000	0.28818	1.429000	0.47314	-0.143000	0.13931	GCT		0.294	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		16	33	1	0	2.94398e-08	1	3.10271e-08	16	33				
AC002472.1	0	broad.mit.edu	37	22	21363307	21363307	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:21363307C>T	ENST00000547793.2	-	0	0				THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA																							ATGACCAGGGCGTAGGTGGCC	0.582																																						ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21363307C>T																													22.37:g.21363307C>T	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	974	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.582	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				11	45	0	0	0	1	0	11	45				
HDAC1	3065	broad.mit.edu	37	1	32793220	32793220	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32793220T>C	ENST00000373548.3	+	6	662	c.578T>C	c.(577-579)gTc>gCc	p.V193A	HDAC1_ENST00000373541.2_5'UTR|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	193	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	ACGGACCGGGTCATGACTGTG	0.542																																						ENST00000373548.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(577-579)gTc>gCc		histone deacetylase 1	Vorinostat(DB02546)						121.0	107.0	112.0					1																	32793220		2203	4300	6503	SO:0001583	missense	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32793220T>C	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.578T>C	1.37:g.32793220T>C	ENSP00000362649:p.Val193Ala					HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_5'UTR	p.V193A	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	662	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	193			Histone deacetylase.		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	c.578T>C	CCDS360.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405112	0.83230	.	.	ENSG00000116478	ENST00000373548;ENST00000428704	D;T	0.82893	-1.66;0.67	4.56	4.56	0.56223	Histone deacetylase domain (2);	0.057072	0.64402	D	0.000001	D	0.94503	0.8230	H	0.98542	4.26	0.80722	D	1	D;P	0.76494	0.999;0.928	D;P	0.85130	0.997;0.858	D	0.96454	0.9336	10	0.87932	D	0	-24.1663	14.4076	0.67093	0.0:0.0:0.0:1.0	.	193;193	B4DSK9;Q13547	.;HDAC1_HUMAN	A	193;168	ENSP00000362649:V193A;ENSP00000407859:V168A	ENSP00000362649:V193A	V	+	2	0	HDAC1	32565807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.050000	0.60909	0.533000	0.62120	GTC		0.542	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		13	44	0	0	0	1	0	13	44				
CDK14	5218	broad.mit.edu	37	7	90356036	90356036	+	Silent	SNP	G	G	A	rs374078260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:90356036G>A	ENST00000380050.3	+	3	410	c.279G>A	c.(277-279)gtG>gtA	p.V93V	CDK14_ENST00000406263.1_Silent_p.V47V|CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Silent_p.V75V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	93					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TAAAGAGGGTGCATTCTGAGA	0.468																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(139-141)gtG>gtA		cyclin-dependent kinase 14		G		0,4406		0,0,2203	127.0	111.0	117.0		225	-3.2	1.0	7		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDK14	NM_012395.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/452	90356036	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356036G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.279G>A	7.37:g.90356036G>A						CDK14_ENST00000436577.2_5'UTR|CDK14_ENST00000265741.3_Silent_p.V75V|CDK14_ENST00000380050.3_Silent_p.V93V	p.V47V			O94921	CDK14_HUMAN			2	583	+			93					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.141G>A																																																																																					0.468	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		25	34	0	0	0	1	0	25	34				
TBCCD1	55171	broad.mit.edu	37	3	186272347	186272347	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:186272347C>T	ENST00000424280.1	-	6	1719	c.1240G>A	c.(1240-1242)Gta>Ata	p.V414I	TBCCD1_ENST00000446782.1_Missense_Mutation_p.V318I|TBCCD1_ENST00000338733.5_Missense_Mutation_p.V414I|TBCCD1_ENST00000479590.1_5'Flank	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	414	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GCAAAAGTTACTGTCTGGTTC	0.463																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1240-1242)Gta>Ata		TBCC domain containing 1							105.0	99.0	101.0					3																	186272347		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186272347C>T	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1240G>A	3.37:g.186272347C>T	ENSP00000411253:p.Val414Ile					TBCCD1_ENST00000338733.5_Missense_Mutation_p.V414I|TBCCD1_ENST00000446782.1_Missense_Mutation_p.V318I	p.V414I	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1719	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		414			C-CAP/cofactor C-like.		B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.1240G>A	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	6.623	0.483288	0.12581	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.85702	-2.02;-2.02;-2.02	5.81	4.93	0.64822	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.299519	0.36665	N	0.002462	T	0.62938	0.2469	N	0.02539	-0.55	0.32149	N	0.584423	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.57539	-0.7794	10	0.02654	T	1	-6.2693	13.0957	0.59190	0.0:0.9209:0.0:0.0791	.	318;414	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	I	414;414;318	ENSP00000411253:V414I;ENSP00000341652:V414I;ENSP00000397091:V318I	ENSP00000341652:V414I	V	-	1	0	TBCCD1	187755041	0.097000	0.21791	1.000000	0.80357	0.985000	0.73830	0.464000	0.21988	2.763000	0.94921	0.552000	0.68991	GTA		0.463	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		10	16	0	0	0	1	0	10	16				
TRPM5	29850	broad.mit.edu	37	11	2443516	2443516	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2443516C>T	ENST00000155858.6	-	2	161	c.153G>A	c.(151-153)gtG>gtA	p.V51V	TRPM5_ENST00000452833.1_Silent_p.V51V|TRPM5_ENST00000533060.1_Silent_p.V51V|TRPM5_ENST00000528453.1_Silent_p.V51V	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTCAAAGAGCACAGACGGGG	0.657																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(151-153)gtG>gtA		transient receptor potential cation channel, subfamily M, member 5							51.0	55.0	54.0					11																	2443516		2200	4299	6499	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2443516C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.153G>A	11.37:g.2443516C>T						TRPM5_ENST00000528453.1_Silent_p.V51V|TRPM5_ENST00000533060.1_Silent_p.V51V|TRPM5_ENST00000155858.6_Silent_p.V51V	p.V51V			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	161	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	51						Silent	SNP	ENST00000155858.6	37	c.153G>A	CCDS31340.1																																																																																				0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		11	20	0	0	0	1	0	11	20				
CTH	1491	broad.mit.edu	37	1	70904388	70904388	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70904388C>T	ENST00000370938.3	+	11	1214	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	CTH_ENST00000411986.2_Missense_Mutation_p.A325V|CTH_ENST00000346806.2_Missense_Mutation_p.A313V	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGACTCATGCATCAGTTCTT	0.408																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(973-975)gCa>gTa		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						136.0	126.0	130.0					1																	70904388		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70904388C>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1070C>T	1.37:g.70904388C>T	ENSP00000359976:p.Ala357Val					CTH_ENST00000346806.2_Missense_Mutation_p.A313V|CTH_ENST00000370938.3_Missense_Mutation_p.A357V	p.A325V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			10	1172	+			357					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.974C>T	CCDS650.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626379	0.28978	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.82984	-1.67;-1.67;-1.67	5.6	4.69	0.59074	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.150621	0.64402	N	0.000015	T	0.80025	0.4548	M	0.82630	2.6	0.80722	D	1	B;P;B	0.36125	0.054;0.538;0.419	B;B;B	0.37387	0.174;0.248;0.081	D	0.83866	0.0271	10	0.72032	D	0.01	-22.0367	14.7142	0.69254	0.0:0.9295:0.0:0.0704	.	325;313;357	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	V	325;357;313	ENSP00000413407:A325V;ENSP00000359976:A357V;ENSP00000311554:A313V	ENSP00000311554:A313V	A	+	2	0	CTH	70676976	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	5.539000	0.67199	1.531000	0.49152	-0.156000	0.13503	GCA		0.408	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		25	50	0	0	0	1	0	25	50				
INTS3	65123	broad.mit.edu	37	1	153719758	153719758	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153719758G>A	ENST00000318967.2	+	5	1004	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	INTS3_ENST00000435409.2_Missense_Mutation_p.V146M|INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	146					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTTTAGTTGGTGTGGTTGGT	0.448																																						ENST00000318967.2																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(436-438)Gtg>Atg		integrator complex subunit 3							220.0	194.0	203.0					1																	153719758		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153719758G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.436G>A	1.37:g.153719758G>A	ENSP00000318641:p.Val146Met					INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.V146M	p.V146M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	1004	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		146					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.436G>A	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557845	0.65425	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.61850	-0.6978	9	0.51188	T	0.08	.	15.9798	0.80097	0.0:0.0:1.0:0.0	.	146	Q68E01-2	.	M	146	.	ENSP00000318641:V146M	V	+	1	0	INTS3	151986382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.773000	0.75006	2.622000	0.88805	0.561000	0.74099	GTG		0.448	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		24	15	0	0	0	1	0	24	15				
TCF7L1	83439	broad.mit.edu	37	2	85510659	85510659	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85510659C>T	ENST00000282111.3	+	4	758	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	161	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCCCCTCCAGCGCCACAGTCA	0.517																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(481-483)agC>agT		transcription factor 7-like 1 (T-cell specific, HMG-box)							254.0	221.0	232.0					2																	85510659		2203	4300	6503	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85510659C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.483C>T	2.37:g.85510659C>T							p.S161S	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			4	758	+			161			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.483C>T	CCDS1971.1																																																																																				0.517	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		47	81	0	0	0	1	0	47	81				
IRF5	3663	broad.mit.edu	37	7	128587975	128587975	+	Missense_Mutation	SNP	G	G	A	rs368255860		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128587975G>A	ENST00000402030.2	+	7	1004	c.932G>A	c.(931-933)cGc>cAc	p.R311H	IRF5_ENST00000473745.1_Missense_Mutation_p.R311H|IRF5_ENST00000477535.1_Missense_Mutation_p.R225H|IRF5_ENST00000249375.4_Missense_Mutation_p.R311H|IRF5_ENST00000357234.5_Missense_Mutation_p.R327H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	311					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GACAAGCAGCGCTTCTACACG	0.622																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(931-933)cGc>cAc		interferon regulatory factor 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	61.0	60.0		932,980,932,674,932	5.1	1.0	7		60	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	311/499,327/515,311/499,225/413,311/499	128587975	1,13005	2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587975G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.932G>A	7.37:g.128587975G>A	ENSP00000385352:p.Arg311His					IRF5_ENST00000477535.1_Missense_Mutation_p.R225H|IRF5_ENST00000357234.5_Missense_Mutation_p.R327H|IRF5_ENST00000249375.4_Missense_Mutation_p.R311H|IRF5_ENST00000473745.1_Missense_Mutation_p.R311H	p.R311H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			7	1004	+			311					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.932G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563988	0.86335	2.27E-4	0.0	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.187711	0.38436	N	0.001688	D	0.97294	0.9115	M	0.84326	2.69	0.45762	D	0.998652	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.975;0.991;0.989	D	0.97217	0.9875	10	0.72032	D	0.01	-19.0372	10.0059	0.41957	0.0928:0.0:0.9072:0.0	.	225;311;327	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	327;225;311;311;311;301	ENSP00000349770:R327H;ENSP00000419950:R225H;ENSP00000385352:R311H;ENSP00000249375:R311H;ENSP00000419149:R311H	ENSP00000249375:R311H	R	+	2	0	IRF5	128375211	0.152000	0.22762	1.000000	0.80357	0.997000	0.91878	1.916000	0.39986	2.560000	0.86352	0.561000	0.74099	CGC		0.622	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		14	26	0	0	0	1	0	14	26				
CHD1	1105	broad.mit.edu	37	5	98195690	98195690	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98195690G>A	ENST00000284049.3	-	32	4659	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1504					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GACTCCTGCCGTTTTTTAATA	0.264																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4510-4512)Cgg>Tgg		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						38.0	42.0	41.0					5																	98195690		2191	4283	6474	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98195690G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4510C>T	5.37:g.98195690G>A	ENSP00000284049:p.Arg1504Trp						p.R1504W	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	32	4659	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1504					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4510C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240270	0.79912	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.91464	-2.85	5.08	5.08	0.68730	.	0.000000	0.31554	U	0.007448	D	0.94282	0.8163	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.71414	0.973	D	0.94772	0.7946	10	0.87932	D	0	.	18.8348	0.92157	0.0:0.0:1.0:0.0	.	1504	O14646	CHD1_HUMAN	W	94;1504	ENSP00000284049:R1504W	ENSP00000284049:R1504W	R	-	1	2	CHD1	98223590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.466000	0.45084	2.514000	0.84764	0.650000	0.86243	CGG		0.264	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		14	28	0	0	0	1	0	14	28				
SLC27A6	28965	broad.mit.edu	37	5	128302176	128302176	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:128302176C>T	ENST00000262462.4	+	1	1356	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	SLC27A6_ENST00000395266.1_Missense_Mutation_p.P116S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P116S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	116					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGCAATGAGCCGGACTTCGT	0.557																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(346-348)Ccg>Tcg		solute carrier family 27 (fatty acid transporter), member 6							83.0	64.0	70.0					5																	128302176		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302176C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.346C>T	5.37:g.128302176C>T	ENSP00000262462:p.Pro116Ser					SLC27A6_ENST00000395266.1_Missense_Mutation_p.P116S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P116S	p.P116S			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1356	+		all_cancers(142;0.0483)|Prostate(80;0.055)	116					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.346C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671326	0.88348	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.50548	0.74;0.74;0.74	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78043	-0.2358	10	0.72032	D	0.01	-18.6642	17.8141	0.88625	0.0:1.0:0.0:0.0	.	116	Q9Y2P4	S27A6_HUMAN	S	116	ENSP00000262462:P116S;ENSP00000378684:P116S;ENSP00000421024:P116S	ENSP00000262462:P116S	P	+	1	0	SLC27A6	128330075	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.081000	0.76844	2.623000	0.88846	0.561000	0.74099	CCG		0.557	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		15	15	0	0	0	1	0	15	15				
SLIT2	9353	broad.mit.edu	37	4	20598243	20598243	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20598243G>A	ENST00000504154.1	+	32	3778	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	SLIT2_ENST00000503837.1_Missense_Mutation_p.A1172T|SLIT2_ENST00000273739.5_Missense_Mutation_p.A1189T|SLIT2_ENST00000503823.1_Missense_Mutation_p.A1168T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1176	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATTCCTTCAGCCAAGGTTCG	0.388																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3526-3528)Gcc>Acc		slit homolog 2 (Drosophila)							72.0	72.0	72.0					4																	20598243		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598243G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3526G>A	4.37:g.20598243G>A	ENSP00000422591:p.Ala1176Thr					SLIT2_ENST00000503837.1_Missense_Mutation_p.A1172T|SLIT2_ENST00000503823.1_Missense_Mutation_p.A1168T|SLIT2_ENST00000273739.5_Missense_Mutation_p.A1189T	p.A1176T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			32	3778	+			1176			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3526G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858340	0.17178	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.17	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.366784	0.35555	N	0.003136	T	0.40372	0.1114	N	0.03016	-0.435	0.43890	D	0.996512	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.001	T	0.26538	-1.0100	10	0.20519	T	0.43	.	12.3612	0.55205	0.1339:0.0:0.8661:0.0	.	1168;1176	O94813-3;O94813	.;SLIT2_HUMAN	T	1168;1176;1189;1172;1172	ENSP00000427548:A1168T;ENSP00000422591:A1176T;ENSP00000273739:A1189T;ENSP00000422261:A1172T	ENSP00000273739:A1189T	A	+	1	0	SLIT2	20207341	0.299000	0.24426	0.959000	0.39883	0.461000	0.32589	1.970000	0.40520	1.631000	0.50456	0.655000	0.94253	GCC		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			18	19	0	0	0	1	0	18	19				
OLA1	29789	broad.mit.edu	37	2	175094087	175094087	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175094087G>T	ENST00000344357.5	-	0	240				OLA1_ENST00000409546.1_Missense_Mutation_p.P85H|OLA1_ENST00000284719.3_Missense_Mutation_p.P65H|OLA1_ENST00000428402.2_Missense_Mutation_p.P65H	NM_001011708.1	NP_001011708.1			Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ATCTGGCACAGGTACTCTGCT	0.378																																						ENST00000344357.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11								Obg-like ATPase 1							84.0	81.0	82.0					2																	175094087		2203	4300	6503			29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175094087G>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000344357.5:c.-281C>A	2.37:g.175094087G>T						OLA1_ENST00000409546.1_Missense_Mutation_p.P85H|OLA1_ENST00000428402.2_Missense_Mutation_p.P65H|OLA1_ENST00000284719.3_Missense_Mutation_p.P65H		NM_001011708.1	NP_001011708.1	Q9NTK5	OLA1_HUMAN			0	240	-									Translation_Start_Site	SNP	ENST00000344357.5	37		CCDS42779.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844046	0.71488	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.17054	2.3;2.31;2.3;2.31	5.51	5.51	0.81932	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.90145	3.09	0.80722	D	1	B;D;D	0.76494	0.313;0.999;0.999	B;D;D	0.76071	0.127;0.987;0.987	T	0.60244	-0.7301	10	0.66056	D	0.02	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	65;65;65	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	H	65;65;85;65	ENSP00000284719:P65H;ENSP00000410385:P65H;ENSP00000386350:P85H;ENSP00000414568:P65H	ENSP00000284719:P65H	P	-	2	0	OLA1	174802333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.750000	0.94351	0.655000	0.94253	CCT		0.378	OLA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333876.2	NM_013341		16	31	1	0	2.5808e-16	1	2.83426e-16	16	31				
BOLL	66037	broad.mit.edu	37	2	198640396	198640396	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198640396C>T	ENST00000392296.4	-	5	654	c.345G>A	c.(343-345)ggG>ggA	p.G115G	BOLL_ENST00000321801.7_Silent_p.G127G|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Silent_p.G115G|BOLL_ENST00000433157.1_Silent_p.G115G	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	115					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.G115G(1)|p.G127G(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACGAGGGATCCCTACTTGTT	0.249																																						ENST00000321801.7																			2	Substitution - coding silent(2)	p.G115G(1)|p.G127G(1)	lung(2)	central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(379-381)ggG>ggA		boule-like RNA-binding protein							82.0	88.0	86.0					2																	198640396		2201	4282	6483	SO:0001819	synonymous_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198640396C>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.345G>A	2.37:g.198640396C>T						BOLL_ENST00000433157.1_Silent_p.G115G|BOLL_ENST00000392296.4_Silent_p.G115G|BOLL_ENST00000430004.1_Silent_p.G115G|BOLL_ENST00000282278.8_Intron	p.G127G	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			5	951	-			115					B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	ENST00000392296.4	37	c.381G>A	CCDS2325.1																																																																																				0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		23	67	0	0	0	1	0	23	67				
TRAC	28755	broad.mit.edu	37	14	23020994	23020994	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23020994C>T	ENST00000478163.3	+	0	871							P01848	TCA_HUMAN	T cell receptor alpha constant						regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTTCTCAAGACGTGGGGGGAA	0.433																																						ENST00000478163.3																			0																				41.0	40.0	40.0					14																	23020994		1932	4146	6078			0							g.chr14:23020994C>T	X02592		14q11.2	2012-02-07			ENSG00000229164	ENSG00000277734		"""T cell receptors / TRA locus"""	12029	other	T cell receptor gene		186880				3875483, 8188290	Standard	NG_001332		Approved			P01848	OTTHUMG00000028683		14.37:g.23020994C>T														0	871	+									RNA	SNP	ENST00000478163.3	37																																																																																						0.433	TRAC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf	TR_C_gene	TR_C_gene	OTTHUMT00000071613.3	NG_001332		18	26	0	0	0	1	0	18	26				
KCNH2	3757	broad.mit.edu	37	7	150654454	150654454	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150654454C>T	ENST00000262186.5	-	5	1454	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	KCNH2_ENST00000330883.4_5'Flank|KCNH2_ENST00000430723.3_Silent_p.S351S|KCNH2_ENST00000392968.2_Silent_p.S255S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	351					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CACTGGTGGGCGAAGCCAAGA	0.587																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(763-765)tcG>tcA		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						114.0	88.0	97.0					7																	150654454		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150654454C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1053G>A	7.37:g.150654454C>T						KCNH2_ENST00000262186.5_Silent_p.S351S|KCNH2_ENST00000430723.3_Silent_p.S351S	p.S255S			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1885	-	all_neural(206;0.219)		351					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.765G>A	CCDS5910.1																																																																																				0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		5	8	0	0	0	1	0	5	8				
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(310-312)caC>caT		epoxide hydrolase 3							66.0	69.0	68.0					19																	15342604		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342604G>A	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.312C>T	19.37:g.15342604G>A						EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	532	-			104					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.312C>T	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		11	22	0	0	0	1	0	11	22				
PROK2	60675	broad.mit.edu	37	3	71830692	71830692	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:71830692T>C	ENST00000295619.3	-	2	156	c.148A>G	c.(148-150)Atc>Gtc	p.I50V	PROK2_ENST00000353065.3_Missense_Mutation_p.I50V	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	50					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TTGACCCAGATACTGACAGCA	0.408																																						ENST00000353065.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(148-150)Atc>Gtc		prokineticin 2							110.0	99.0	103.0					3																	71830692		2203	4300	6503	SO:0001583	missense	60675				activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding	g.chr3:71830692T>C	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"""Endogenous ligands"""	18455	protein-coding gene	gene with protein product	"""protein Bv8 homolog"""	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.148A>G	3.37:g.71830692T>C	ENSP00000295619:p.Ile50Val					PROK2_ENST00000295619.3_Missense_Mutation_p.I50V	p.I50V	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)	2	301	-		Prostate(10;0.00899)	50					Q53Z79|Q6ISR0	Missense_Mutation	SNP	ENST00000295619.3	37	c.148A>G	CCDS46868.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453340	0.43531	.	.	ENSG00000163421	ENST00000353065;ENST00000295619	D;D	0.85861	-2.04;-2.04	5.72	4.55	0.56014	Prokineticin domain (2);	0.256080	0.33670	N	0.004677	T	0.80859	0.4704	L	0.47716	1.5	0.29491	N	0.855609	B;B	0.33022	0.394;0.267	B;B	0.35931	0.214;0.127	T	0.74352	-0.3693	10	0.35671	T	0.21	-25.8061	11.3865	0.49789	0.0:0.0:0.2868:0.7132	.	50;50	Q9HC23;Q6ISR0	PROK2_HUMAN;.	V	50	ENSP00000295618:I50V;ENSP00000295619:I50V	ENSP00000295619:I50V	I	-	1	0	PROK2	71913382	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.760000	0.38430	0.966000	0.38159	0.528000	0.53228	ATC		0.408	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352302.1	NM_001126128		18	36	0	0	0	1	0	18	36				
NPC1	4864	broad.mit.edu	37	18	21128018	21128018	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21128018T>C	ENST00000269228.5	-	11	2263	c.1709A>G	c.(1708-1710)tAc>tGc	p.Y570C	NPC1_ENST00000412552.2_Intron|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	570					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCATTATAGTAATTATTGAC	0.438																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1708-1710)tAc>tGc		Niemann-Pick disease, type C1							151.0	146.0	148.0					18																	21128018		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21128018T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1709A>G	18.37:g.21128018T>C	ENSP00000269228:p.Tyr570Cys					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Intron	p.Y570C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			11	2263	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		570					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1709A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394124	0.42410	.	.	ENSG00000141458	ENST00000269228;ENST00000540608	D	0.93953	-3.32	5.72	5.72	0.89469	.	0.177482	0.51477	D	0.000098	D	0.91576	0.7339	M	0.61703	1.905	0.80722	D	1	B	0.21309	0.054	B	0.25759	0.063	D	0.88677	0.3199	10	0.52906	T	0.07	-26.2757	11.1295	0.48339	0.1377:0.0:0.0:0.8623	.	570	O15118	NPC1_HUMAN	C	570;415	ENSP00000269228:Y570C	ENSP00000269228:Y570C	Y	-	2	0	NPC1	19382016	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.028000	0.70889	2.179000	0.69175	0.460000	0.39030	TAC		0.438	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		27	114	0	0	0	1	0	27	114				
MAP4K2	5871	broad.mit.edu	37	11	64569094	64569094	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64569094C>A	ENST00000294066.2	-	7	506		c.e7-1		MAP4K2_ENST00000377350.3_Splice_Site|MEN1_ENST00000478548.1_5'Flank|MAP4K2_ENST00000468062.1_Intron	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2						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)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGTTGGCTCCCTGTGGGAATG	0.627																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.e7-1		mitogen-activated protein kinase kinase kinase kinase 2							128.0	121.0	123.0					11																	64569094		2201	4297	6498	SO:0001630	splice_region_variant	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.chr11:64569094C>A	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.415-1G>T	11.37:g.64569094C>A						MAP4K2_ENST00000468062.1_Intron|MAP4K2_ENST00000377350.3_Splice_Site		NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			7	506	-								Q86VU3	Splice_Site	SNP	ENST00000294066.2	37		CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699170	0.68501	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6386	0.68706	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K2	64325670	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.185000	0.65076	2.388000	0.81334	0.551000	0.68910	.		0.627	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579	Intron	19	25	1	0	1.01871e-10	1	1.09092e-10	19	25				
KRBA1	84626	broad.mit.edu	37	7	149416750	149416750	+	Silent	SNP	G	G	A	rs555803380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149416750G>A	ENST00000485033.2	+	1	21	c.21G>A	c.(19-21)acG>acA	p.T7T	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.T7T|KRBA1_ENST00000319551.8_Silent_p.T7T			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	7										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTACGAGACGCTGGTCTCTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16162	0.0		0.0	False		,,,				2504	0.001					ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(19-21)acG>acA		KRAB-A domain containing 1							46.0	59.0	54.0					7																	149416750		2130	4257	6387	SO:0001819	synonymous_variant	84626							g.chr7:149416750G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.21G>A	7.37:g.149416750G>A						KRBA1_ENST00000319551.8_Silent_p.T7T|KRBA1_ENST00000485033.2_Silent_p.T7T|KRBA1_ENST00000479560.1_3'UTR	p.T7T	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		2	420	+	Melanoma(164;0.165)|Ovarian(565;0.177)		7					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.21G>A																																																																																					0.657	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		14	14	0	0	0	1	0	14	14				
PYCR1	5831	broad.mit.edu	37	17	79892848	79892848	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79892848T>A	ENST00000329875.8	-	4	558	c.494A>T	c.(493-495)gAc>gTc	p.D165V	RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.D192V|PYCR1_ENST00000337943.5_Missense_Mutation_p.D165V|PYCR1_ENST00000403172.4_Missense_Mutation_p.D165V|PYCR1_ENST00000577756.1_Missense_Mutation_p.D165V	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	165					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	ATCAATCAGGTCCTCTTCCAC	0.697																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(493-495)gAc>gTc		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						50.0	42.0	45.0					17																	79892848		2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892848T>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.494A>T	17.37:g.79892848T>A	ENSP00000328858:p.Asp165Val					PYCR1_ENST00000577756.1_Missense_Mutation_p.D165V|PYCR1_ENST00000329875.8_Missense_Mutation_p.D165V|PYCR1_ENST00000402252.2_Missense_Mutation_p.D192V|PYCR1_ENST00000403172.4_Missense_Mutation_p.D165V	p.D165V	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	936	-	all_neural(118;0.0878)|Ovarian(332;0.12)		165					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.494A>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671469	0.47781	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.13	4.13	0.48395	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	L	0.36672	1.1	0.80722	D	1	P;B;B;P;B;B;P	0.50066	0.609;0.056;0.056;0.931;0.056;0.007;0.699	B;B;B;P;B;B;B	0.52309	0.067;0.016;0.036;0.695;0.036;0.007;0.338	D	0.83516	0.0083	10	0.41790	T	0.15	.	12.85	0.57852	0.0:0.0:0.0:1.0	.	137;192;165;165;165;165;165	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	V	165;165;165;192;137	ENSP00000336579:D165V;ENSP00000328858:D165V;ENSP00000385483:D165V;ENSP00000384949:D192V	ENSP00000328858:D165V	D	-	2	0	PYCR1	77486139	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.967000	0.70403	1.523000	0.49018	0.454000	0.30748	GAC		0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			7	23	0	0	0	1	0	7	23				
HRC	3270	broad.mit.edu	37	19	49656894	49656894	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49656894T>C	ENST00000252825.4	-	1	1787	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	HRC_ENST00000595625.1_Missense_Mutation_p.E534G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	534					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcttcttcctcctcctGGTT	0.597																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1600-1602)gAg>gGg		histidine rich calcium binding protein							64.0	38.0	47.0					19																	49656894		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656894T>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1601A>G	19.37:g.49656894T>C	ENSP00000252825:p.Glu534Gly					HRC_ENST00000595625.1_Missense_Mutation_p.E534G	p.E534G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1787	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	534					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1601A>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.215295	0.39102	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.50813	0.73	3.29	3.29	0.37713	.	.	.	.	.	T	0.48714	0.1515	L	0.46157	1.445	0.26365	N	0.976987	D	0.55172	0.97	P	0.51297	0.665	T	0.33266	-0.9875	9	0.51188	T	0.08	.	8.5807	0.33626	0.0:0.0:0.0:1.0	.	534	P23327	SRCH_HUMAN	G	534;233	ENSP00000252825:E534G	ENSP00000252825:E534G	E	-	2	0	HRC	54348706	0.243000	0.23878	0.991000	0.47740	0.202000	0.24057	1.163000	0.31798	1.467000	0.48044	0.379000	0.24179	GAG		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		7	17	0	0	0	1	0	7	17				
PLOD1	5351	broad.mit.edu	37	1	12020809	12020809	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12020809C>G	ENST00000196061.4	+	10	1109	c.1082C>G	c.(1081-1083)gCc>gGc	p.A361G	PLOD1_ENST00000376369.3_Missense_Mutation_p.A408G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	361					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AATGCAGATGCCAGGAACATG	0.612																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1081-1083)gCc>gGc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						100.0	91.0	94.0					1																	12020809		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12020809C>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1082C>G	1.37:g.12020809C>G	ENSP00000196061:p.Ala361Gly					PLOD1_ENST00000376369.3_Missense_Mutation_p.A408G	p.A361G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	1109	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	361					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1082C>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346634	0.61073	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.87887	-2.31;-2.31	5.61	5.61	0.85477	.	0.111803	0.64402	D	0.000009	D	0.84813	0.5555	L	0.52011	1.625	0.58432	D	0.999995	P;P	0.42827	0.791;0.78	B;B	0.39904	0.313;0.192	D	0.84958	0.0875	10	0.41790	T	0.15	.	17.1896	0.86875	0.0:1.0:0.0:0.0	.	408;361	B4DR87;Q02809	.;PLOD1_HUMAN	G	408;361	ENSP00000365548:A408G;ENSP00000196061:A361G	ENSP00000196061:A361G	A	+	2	0	PLOD1	11943396	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	6.855000	0.75445	2.659000	0.90383	0.650000	0.86243	GCC		0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		11	23	0	0	0	1	0	11	23				
FHL5	9457	broad.mit.edu	37	6	97051589	97051589	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97051589G>A	ENST00000326771.2	+	3	480	c.100G>A	c.(100-102)Gat>Aat	p.D34N	FHL5_ENST00000541107.1_Missense_Mutation_p.D34N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	34					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TACATGTTATGATCGTGTATT	0.358																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(100-102)Gat>Aat		four and a half LIM domains 5							173.0	151.0	159.0					6																	97051589		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051589G>A	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.100G>A	6.37:g.97051589G>A	ENSP00000326022:p.Asp34Asn					FHL5_ENST00000541107.1_Missense_Mutation_p.D34N	p.D34N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	480	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	34					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.100G>A	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786554	0.31593	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87256	-2.23;-2.23;-2.23	5.65	4.79	0.61399	Zinc finger, LIM-type (1);	0.307617	0.23500	N	0.047517	T	0.79046	0.4380	M	0.66939	2.045	0.52501	D	0.999953	P	0.42483	0.781	B	0.38500	0.275	T	0.81536	-0.0888	10	0.62326	D	0.03	.	10.2239	0.43214	0.0706:0.1372:0.7923:0.0	.	34	Q5TD97	FHL5_HUMAN	N	34	ENSP00000442357:D34N;ENSP00000326022:D34N;ENSP00000396390:D34N	ENSP00000326022:D34N	D	+	1	0	FHL5	97158310	1.000000	0.71417	0.901000	0.35422	0.010000	0.07245	5.820000	0.69250	1.389000	0.46526	-0.195000	0.12781	GAT		0.358	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		39	52	0	0	0	1	0	39	52				
LTBP4	8425	broad.mit.edu	37	19	41129556	41129556	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41129556G>A	ENST00000308370.7	+	29	3802	c.3802G>A	c.(3802-3804)Gtg>Atg	p.V1268M	LTBP4_ENST00000545697.1_Missense_Mutation_p.V636M|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.V1201M|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1231M	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1269	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAGAGTGGCGTGTGTGTGAA	0.597																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3802-3804)Gtg>Atg		latent transforming growth factor beta binding protein 4							85.0	91.0	89.0					19																	41129556		2106	4230	6336	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129556G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3802G>A	19.37:g.41129556G>A	ENSP00000311905:p.Val1268Met					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1231M|LTBP4_ENST00000396819.3_Missense_Mutation_p.V1201M|LTBP4_ENST00000545697.1_Missense_Mutation_p.V636M	p.V1268M	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		29	3802	+			1269			EGF-like 13; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3802G>A		.	.	.	.	.	.	.	.	.	.	G	9.446	1.089321	0.20390	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.02	4.02	0.46733	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.30455	U	0.009582	T	0.38161	0.1030	.	.	.	0.36684	D	0.879192	D;D;D;B;B;B	0.76494	0.999;0.999;0.983;0.106;0.106;0.106	P;D;P;B;B;B	0.63192	0.871;0.912;0.692;0.066;0.027;0.027	T	0.43081	-0.9413	9	0.46703	T	0.11	.	10.4477	0.44503	0.0:0.0:0.8046:0.1954	.	29;281;489;1201;1269;1231	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	M	1231;636;1268;1201;29	ENSP00000204005:V1231M;ENSP00000441054:V636M;ENSP00000311905:V1268M;ENSP00000380031:V1201M	ENSP00000204005:V1231M	V	+	1	0	LTBP4	45821396	0.284000	0.24287	0.992000	0.48379	0.512000	0.34134	0.776000	0.26704	2.077000	0.62373	0.313000	0.20887	GTG		0.597	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		8	14	0	0	0	1	0	8	14				
PCDHGA10	56106	broad.mit.edu	37	5	140795118	140795118	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140795118C>T	ENST00000398610.2	+	1	2376	c.2376C>T	c.(2374-2376)aaC>aaT	p.N792N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	792					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAACGATCCTTTGT	0.433																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2374-2376)aaC>aaT									83.0	89.0	87.0					5																	140795118		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795118C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2376C>T	5.37:g.140795118C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.N792N	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2376	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2376C>T	CCDS47292.1																																																																																				0.433	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		28	40	0	0	0	1	0	28	40				
FAM160B2	64760	broad.mit.edu	37	8	21960311	21960311	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21960311C>T	ENST00000289921.7	+	17	2147	c.2101C>T	c.(2101-2103)Cac>Tac	p.H701Y		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	701										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGGCTGGACCACCAGACCCT	0.642																																						ENST00000289921.7																			0				endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						c.(2101-2103)Cac>Tac		family with sequence similarity 160, member B2							63.0	67.0	66.0					8																	21960311		2068	4223	6291	SO:0001583	missense	64760							g.chr8:21960311C>T	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.2101C>T	8.37:g.21960311C>T	ENSP00000289921:p.His701Tyr						p.H701Y	NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN			17	2147	+			701					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.2101C>T	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631495	0.87660	.	.	ENSG00000158863	ENST00000289921;ENST00000356512	T	0.48836	0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.71036	2.16	0.58432	D	0.999993	P	0.50066	0.931	P	0.52031	0.688	T	0.64114	-0.6483	10	0.56958	D	0.05	-25.4679	16.5074	0.84276	0.0:1.0:0.0:0.0	.	701	Q86V87	F16B2_HUMAN	Y	701;119	ENSP00000289921:H701Y	ENSP00000289921:H701Y	H	+	1	0	FAM160B2	22016256	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.966000	0.70395	2.492000	0.84095	0.561000	0.74099	CAC		0.642	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			15	35	0	0	0	1	0	15	35				
COPB2	9276	broad.mit.edu	37	3	139085507	139085507	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:139085507G>A	ENST00000333188.5	-	15	1968	c.1787C>T	c.(1786-1788)aCa>aTa	p.T596I	COPB2_ENST00000507777.1_Missense_Mutation_p.T567I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	596					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATGACAGCTGTCTGGTATTC	0.453																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1786-1788)aCa>aTa		coatomer protein complex, subunit beta 2 (beta prime)							87.0	92.0	90.0					3																	139085507		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085507G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1787C>T	3.37:g.139085507G>A	ENSP00000329419:p.Thr596Ile					COPB2_ENST00000507777.1_Missense_Mutation_p.T567I	p.T596I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	1968	-			596					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1787C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018582	0.75275	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.65364	-0.15;-0.04	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	M	0.93328	3.405	0.80722	D	1	P	0.49185	0.92	P	0.62560	0.904	D	0.87113	0.2186	10	0.66056	D	0.02	-17.7806	20.1197	0.97955	0.0:0.0:1.0:0.0	.	596	P35606	COPB2_HUMAN	I	596;567	ENSP00000329419:T596I;ENSP00000422295:T567I	ENSP00000329419:T596I	T	-	2	0	COPB2	140568197	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	ACA		0.453	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		34	38	0	0	0	1	0	34	38				
ZZEF1	23140	broad.mit.edu	37	17	4007994	4007994	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4007994C>T	ENST00000381638.2	-	8	1630	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	502							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATCATACTGCGTGTCCAGAT	0.478																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1504-1506)acG>acA		zinc finger, ZZ-type with EF-hand domain 1							147.0	128.0	135.0					17																	4007994		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4007994C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1506G>A	17.37:g.4007994C>T						ZZEF1_ENST00000574474.1_5'UTR	p.T502T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			8	1630	-			502					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1506G>A	CCDS11043.1																																																																																				0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		18	20	0	0	0	1	0	18	20				
ZNF112	7771	broad.mit.edu	37	19	44831640	44831640	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44831640C>T	ENST00000337401.4	-	5	2776	c.2688G>A	c.(2686-2688)aaG>aaA	p.K896K	ZNF112_ENST00000354340.4_Silent_p.K890K|ZNF112_ENST00000536500.1_Silent_p.K913K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	896					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGGGTAGTCCTTACCATAGT	0.393																																						ENST00000354340.4																			0											c.(2668-2670)aaG>aaA		zinc finger protein 112							66.0	63.0	64.0					19																	44831640		2203	4299	6502	SO:0001819	synonymous_variant	7665							g.chr19:44831640C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2688G>A	19.37:g.44831640C>T						ZNF112_ENST00000337401.4_Silent_p.K896K|ZNF112_ENST00000536500.1_Silent_p.K913K	p.K890K	NM_013380.3	NP_037512.3					4	2721	-								A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.2670G>A	CCDS54276.1																																																																																				0.393	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		20	35	0	0	0	1	0	20	35				
ABCA2	20	broad.mit.edu	37	9	139907310	139907310	+	Silent	SNP	C	C	T	rs541291575		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139907310C>T	ENST00000371605.3	-	30	5079	c.4932G>A	c.(4930-4932)gcG>gcA	p.A1644A	ABCA2_ENST00000341511.6_Silent_p.A1645A|ABCA2_ENST00000265662.5_Silent_p.A1645A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1644					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTGCCCTGCGCAGAGCAGG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12910	0.0		0.0	False		,,,				2504	0.0					ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4933-4935)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 2							9.0	12.0	11.0					9																	139907310		1922	4063	5985	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907310C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4932G>A	9.37:g.139907310C>T						ABCA2_ENST00000371605.3_Silent_p.A1644A|ABCA2_ENST00000341511.6_Silent_p.A1645A	p.A1645A			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	31	5082	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1644					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4935G>A		.	.	.	.	.	.	.	.	.	.	C	8.264	0.811901	0.16537	.	.	ENSG00000107331	ENST00000477420	.	.	.	4.15	-3.79	0.04320	.	1.938260	0.02926	U	0.138558	T	0.33585	0.0868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15723	-1.0427	6	0.11794	T	0.64	.	5.5432	0.17049	0.0:0.4346:0.3086:0.2568	.	.	.	.	T	57	.	ENSP00000418732:A57T	A	-	1	0	ABCA2	139027131	0.808000	0.29022	0.050000	0.19076	0.653000	0.38743	0.023000	0.13533	-1.156000	0.02818	-0.339000	0.08088	GCA		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		7	3	0	0	0	1	0	7	3				
HSPA12A	259217	broad.mit.edu	37	10	118440767	118440767	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118440767C>T	ENST00000369209.3	-	9	1027	c.923G>A	c.(922-924)gGt>gAt	p.G308D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	308						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATACTTATCACCTGGCACAAA	0.498																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e9-1		heat shock 70kDa protein 12A							72.0	75.0	74.0					10																	118440767		2100	4215	6315	SO:0001630	splice_region_variant	259217						ATP binding	g.chr10:118440767C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.923-1G>A	10.37:g.118440767C>T							p.G308_splice	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1027	-			308						Splice_Site	SNP	ENST00000369209.3	37	c.922_splice	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875402	0.91664	.	.	ENSG00000165868	ENST00000369209	T	0.30448	1.53	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46569	-0.9182	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	308	O43301	HS12A_HUMAN	D	308	ENSP00000358211:G308D	ENSP00000358211:G308D	G	-	2	0	HSPA12A	118430757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GGT		0.498	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	Missense_Mutation	23	29	0	0	0	1	0	23	29				
AP1B1	162	broad.mit.edu	37	22	29737722	29737722	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29737722G>A	ENST00000405198.1	-	12	1595	c.1564C>T	c.(1564-1566)Cgt>Tgt	p.R522C	AP1B1_ENST00000356015.2_Missense_Mutation_p.R522C|AP1B1_ENST00000432560.2_Missense_Mutation_p.R522C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R522C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R522C|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000357586.2_Missense_Mutation_p.R522C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R522C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	522					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATGTAGCCACGGTCCCGCAGG	0.592																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1564-1566)Cgt>Tgt		adaptor-related protein complex 1, beta 1 subunit							56.0	50.0	52.0					22																	29737722		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29737722G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1564C>T	22.37:g.29737722G>A	ENSP00000384194:p.Arg522Cys					AP1B1_ENST00000432560.2_Missense_Mutation_p.R522C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R522C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R522C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R522C|AP1B1_ENST00000405198.1_Missense_Mutation_p.R522C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R522C	p.R522C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			13	1750	-			522					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1564C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879172	0.91740	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.66	5.66	0.87406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	H	0.97103	3.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.998;0.995;0.983	D	0.88386	0.3005	10	0.87932	D	0	-10.4062	19.3511	0.94387	0.0:0.0:1.0:0.0	.	75;522;522;522;522	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	C	522	ENSP00000350199:R522C;ENSP00000348297:R522C;ENSP00000400065:R522C;ENSP00000384194:R522C;ENSP00000319361:R522C;ENSP00000386071:R522C;ENSP00000387612:R522C;ENSP00000400022:R522C	ENSP00000319361:R522C	R	-	1	0	AP1B1	28067722	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	5.407000	0.66363	2.665000	0.90641	0.655000	0.94253	CGT		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		5	11	0	0	0	1	0	5	11				
SEPN1	57190	broad.mit.edu	37	1	26135154	26135154	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26135154G>A	ENST00000374315.1	+	4	557	c.519G>A	c.(517-519)caG>caA	p.Q173Q	SEPN1_ENST00000354177.4_Silent_p.Q173Q|SEPN1_ENST00000361547.2_Silent_p.Q207Q	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	207						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTTCCAGCCCTTCCTTC	0.657																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(619-621)caG>caA		selenoprotein N, 1							68.0	81.0	77.0					1																	26135154		2063	4195	6258	SO:0001819	synonymous_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135154G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.519G>A	1.37:g.26135154G>A						SEPN1_ENST00000354177.4_Silent_p.Q173Q|SEPN1_ENST00000374315.1_Silent_p.Q173Q	p.Q207Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	5	676	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	207					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	c.621G>A	CCDS41283.1																																																																																				0.657	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		19	33	0	0	0	1	0	19	33				
IFT172	26160	broad.mit.edu	37	2	27670411	27670411	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27670411G>A	ENST00000260570.3	-	42	4733	c.4630C>T	c.(4630-4632)Cgc>Tgc	p.R1544C		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1544			R -> C (in SRTD10). {ECO:0000269|PubMed:24140113}.		bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCTGCAGAGCGCGTGGCATAG	0.507																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4630-4632)Cgc>Tgc		intraflagellar transport 172 homolog (Chlamydomonas)							147.0	135.0	139.0					2																	27670411		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670411G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4630C>T	2.37:g.27670411G>A	ENSP00000260570:p.Arg1544Cys						p.R1544C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			42	4733	-	Acute lymphoblastic leukemia(172;0.155)		1544					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4630C>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331907	0.60853	.	.	ENSG00000138002	ENST00000260570	T	0.52295	0.67	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76302	-0.3009	10	0.66056	D	0.02	-10.175	15.9265	0.79621	0.0:0.0:1.0:0.0	.	1544	Q9UG01	IF172_HUMAN	C	1544	ENSP00000260570:R1544C	ENSP00000260570:R1544C	R	-	1	0	IFT172	27523915	1.000000	0.71417	0.924000	0.36721	0.370000	0.29829	5.879000	0.69690	2.558000	0.86282	0.561000	0.74099	CGC		0.507	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		53	58	0	0	0	1	0	53	58				
CKAP4	10970	broad.mit.edu	37	12	106633671	106633671	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106633671G>T	ENST00000378026.4	-	2	1076	c.940C>A	c.(940-942)Ctt>Att	p.L314I	CKAP4_ENST00000552828.1_Intron	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	314						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						ATAGTCTGAAGGGTACTTCTC	0.567																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(940-942)Ctt>Att		cytoskeleton-associated protein 4							81.0	80.0	81.0					12																	106633671		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633671G>T	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.940C>A	12.37:g.106633671G>T	ENSP00000367265:p.Leu314Ile					CKAP4_ENST00000552828.1_Intron	p.L314I	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN			2	1076	-			314					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.940C>A	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	G	0.426	-0.905687	0.02453	.	.	ENSG00000136026	ENST00000378026	T	0.76968	-1.06	5.58	1.74	0.24563	.	0.242332	0.37669	N	0.001995	T	0.59348	0.2187	L	0.33485	1.01	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.42799	-0.9430	10	0.34782	T	0.22	-9.9704	1.2544	0.01988	0.1543:0.2437:0.287:0.315	.	314	Q07065	CKAP4_HUMAN	I	314	ENSP00000367265:L314I	ENSP00000367265:L314I	L	-	1	0	CKAP4	105157801	1.000000	0.71417	0.019000	0.16419	0.237000	0.25408	1.146000	0.31589	0.320000	0.23234	0.563000	0.77884	CTT		0.567	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			20	32	1	0	2.94398e-08	1	3.10271e-08	20	32				
TPM3	7170	broad.mit.edu	37	1	154166159	154166159	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154166159G>A	ENST00000368530.2	-	0	0				TPM3_ENST00000271850.7_5'Flank|MIR190B_ENST00000401119.1_RNA	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTAAGAATATGTTTGACATTT	0.458			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000401119.1				Dom	yes		1	1q22-q23	7170		tropomyosin 3			"""E, L"""					0																				79.0	79.0	79.0					1																	154166159		1568	3582	5150	SO:0001631	upstream_gene_variant	0							g.chr1:154166159G>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853		1.37:g.154166159G>A	Exception_encountered							NR_030600.1						0	60	-								D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	ENST00000368530.2	37		CCDS41403.1																																																																																				0.458	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		16	23	0	0	0	1	0	16	23				
ATG2A	23130	broad.mit.edu	37	11	64678120	64678120	+	Missense_Mutation	SNP	G	G	A	rs375562497		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678120G>A	ENST00000377264.3	-	12	1787	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	ATG2A_ENST00000421419.2_Missense_Mutation_p.R559C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	559					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)				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						TGTGTGTGGCGCAGATGGGCG	0.682																																						ENST00000421419.2																			0				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						c.(1675-1677)Cgc>Tgc		autophagy related 2A		G	CYS/ARG	1,4395		0,1,2197	58.0	55.0	56.0		1675	4.1	1.0	11		56	0,8588		0,0,4294	no	missense	ATG2A	NM_015104.2	180	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	559/1939	64678120	1,12983	2198	4294	6492	SO:0001583	missense	23130						protein binding	g.chr11:64678120G>A		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.1675C>T	11.37:g.64678120G>A	ENSP00000366475:p.Arg559Cys					ATG2A_ENST00000377264.3_Missense_Mutation_p.R559C	p.R559C			Q2TAZ0	ATG2A_HUMAN			12	1789	-			559					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1675C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.370116|2.370116	0.42003|0.42003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07567	.|3.18;3.18	4.97|4.97	4.06|4.06	0.47325|0.47325	.|.	.|0.124722	.|0.53938	.|N	.|0.000046	T|T	0.06142|0.06142	0.0159|0.0159	N|N	0.19112|0.19112	0.55|0.55	0.41043|0.41043	D|D	0.985241|0.985241	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.22941|0.22941	-1.0202|-1.0202	5|10	.|0.62326	.|D	.|0.03	.|.	9.7823|9.7823	0.40656|0.40656	0.0971:0.0:0.9029:0.0|0.0971:0.0:0.9029:0.0	.|.	.|559	.|Q2TAZ0	.|ATG2A_HUMAN	V|C	360|559	.|ENSP00000410522:R559C;ENSP00000366475:R559C	.|ENSP00000366475:R559C	A|R	-|-	2|1	0|0	ATG2A|ATG2A	64434696|64434696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.631000|0.631000	0.37964|0.37964	3.763000|3.763000	0.55257|0.55257	1.220000|1.220000	0.43490|0.43490	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		3	4	0	0	0	1	0	3	4				
IQCG	84223	broad.mit.edu	37	3	197619592	197619592	+	Silent	SNP	G	G	A	rs202054380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197619592G>A	ENST00000265239.6	-	10	1426	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	RNU6-858P_ENST00000362436.1_RNA|IQCG_ENST00000455191.1_Silent_p.Y334Y	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	334						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCCTTATCGTATTTCTCCA	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		21695	0.001		0.0	False		,,,				2504	0.0					ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)taC>taT		IQ motif containing G		A	,	0,4406		0,0,2203	287.0	267.0	274.0		1002,1002	-0.4	0.4	3		274	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous	IQCG	NM_001134435.1,NM_032263.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	334/444,334/444	197619592	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84223							g.chr3:197619592G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1002C>T	3.37:g.197619592G>A						IQCG_ENST00000455191.1_Silent_p.Y334Y	p.Y334Y	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1426	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		334					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.1002C>T	CCDS3331.1																																																																																				0.418	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		52	81	0	0	0	1	0	52	81				
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	rs377607213		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	413						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1237-1239)Gcc>Acc		ring finger protein 112		G	THR/ALA	1,3899		0,1,1949	26.0	31.0	29.0		1237	-3.5	0.5	17		29	0,8286		0,0,4143	no	missense	RNF112	NM_007148.4	58	0,1,6092	AA,AG,GG		0.0,0.0256,0.0082	benign	413/632	19318461	1,12185	1950	4143	6093	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318461G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1237G>A	17.37:g.19318461G>A	ENSP00000454919:p.Ala413Thr						p.A413T	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			11	1452	+			413					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1237G>A	CCDS58529.1																																																																																				0.662	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		10	38	0	0	0	1	0	10	38				
OSMR	9180	broad.mit.edu	37	5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2752-2754)Gtg>Atg		oncostatin M receptor							80.0	86.0	84.0					5																	38933358		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933358G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2752G>A	5.37:g.38933358G>A	ENSP00000274276:p.Val918Met						p.V918M	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			18	3154	+	all_lung(31;0.000365)		918					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2752G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851105	0.71719	.	.	ENSG00000145623	ENST00000274276	T	0.51071	0.72	5.85	4.07	0.47477	.	2.680230	0.01216	N	0.007970	T	0.68137	0.2968	M	0.61703	1.905	0.32366	N	0.556521	D	0.89917	1.0	D	0.87578	0.998	T	0.45366	-0.9266	10	0.54805	T	0.06	.	8.1342	0.31046	0.1766:0.0:0.8234:0.0	.	918	Q99650	OSMR_HUMAN	M	918	ENSP00000274276:V918M	ENSP00000274276:V918M	V	+	1	0	OSMR	38969115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.653000	0.37323	1.476000	0.48215	0.655000	0.94253	GTG		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		8	79	0	0	0	1	0	8	79				
CNTRL	11064	broad.mit.edu	37	9	123927349	123927349	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123927349A>G	ENST00000373855.1	+	35	5812	c.5552A>G	c.(5551-5553)gAc>gGc	p.D1851G	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1851G|CNTRL_ENST00000373850.1_Missense_Mutation_p.D1299G			Q7Z7A1	CNTRL_HUMAN	centriolin	1851					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGCATAACGACATTTCAGCA	0.393																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5551-5553)gAc>gGc		centriolin							105.0	95.0	98.0					9																	123927349		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927349A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5552A>G	9.37:g.123927349A>G	ENSP00000362962:p.Asp1851Gly					CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.D1299G|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1851G	p.D1851G			Q7Z7A1	CNTRL_HUMAN			35	5812	+			1851					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5552A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291353	0.59976	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.36520	1.56;1.56;1.25	5.8	3.42	0.39159	.	.	.	.	.	T	0.35799	0.0944	M	0.61703	1.905	0.27230	N	0.95942	B	0.11235	0.004	B	0.09377	0.004	T	0.29941	-0.9995	9	0.59425	D	0.04	.	9.6345	0.39800	0.8584:0.0:0.1416:0.0	.	1851	Q7Z7A1	CNTRL_HUMAN	G	1851;1851;1851;607;33;1299;533	ENSP00000362962:D1851G;ENSP00000238341:D1851G;ENSP00000362956:D1299G	ENSP00000238341:D1851G	D	+	2	0	CNTRL	122967170	0.994000	0.37717	0.013000	0.15412	0.798000	0.45092	3.627000	0.54252	0.452000	0.26830	0.460000	0.39030	GAC		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		3	47	0	0	0	1	0	3	47				
NRXN2	9379	broad.mit.edu	37	11	64410041	64410041	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64410041G>A	ENST00000377551.1	-	16	3615				NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.R79C|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000377559.3_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGGGCATGCGGTTGATGGCG	0.726																																						ENST00000301894.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(235-237)Cgc>Tgc		neurexin 2							47.0	37.0	40.0					11																	64410041		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64410041G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5649C>T	11.37:g.64410041G>A						NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Intron	p.R79C	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN			1	746	-			0			Laminin G-like 1.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.235C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539925	0.45176	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.60920	0.15;0.67	1.13	1.13	0.20643	.	.	.	.	.	T	0.61664	0.2365	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	P	0.61592	0.891	T	0.62388	-0.6865	9	0.87932	D	0	.	4.4251	0.11498	0.0:0.0:0.6155:0.3845	.	79	P58401	NRX2B_HUMAN	C	79;40	ENSP00000301894:R79C;ENSP00000407374:R40C	ENSP00000301894:R79C	R	-	1	0	NRXN2	64166617	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.635000	0.37134	0.936000	0.37367	0.176000	0.17051	CGC		0.726	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	12	0	0	0	1	0	6	12				
WWOX	51741	broad.mit.edu	37	16	78143685	78143685	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:78143685C>T	ENST00000566780.1	+	3	549	c.183C>T	c.(181-183)taC>taT	p.Y61Y	WWOX_ENST00000402655.2_Silent_p.Y61Y|WWOX_ENST00000355860.3_Silent_p.Y61Y|WWOX_ENST00000408984.3_Silent_p.Y61Y|WWOX_ENST00000406884.2_Silent_p.Y61Y|WWOX_ENST00000539474.2_Silent_p.Y61Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	61	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTGCCATACGGATGGGAAC	0.468																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(181-183)taC>taT		WW domain containing oxidoreductase							128.0	119.0	122.0					16																	78143685		1881	4117	5998	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78143685C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.183C>T	16.37:g.78143685C>T						WWOX_ENST00000402655.2_Silent_p.Y61Y|WWOX_ENST00000406884.2_Silent_p.Y61Y|WWOX_ENST00000539474.2_Silent_p.Y61Y|WWOX_ENST00000408984.3_Silent_p.Y61Y|WWOX_ENST00000355860.3_Silent_p.Y61Y	p.Y61Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	3	549	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	61			WW 2.		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.183C>T	CCDS42196.1																																																																																				0.468	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			28	38	0	0	0	1	0	28	38				
KIAA1109	84162	broad.mit.edu	37	4	123122202	123122202	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123122202G>A	ENST00000264501.4	+	15	1792	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M473I|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M473I			Q2LD37	K1109_HUMAN	KIAA1109	473					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATGGAACATGCCGCAGACAT	0.373																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(1417-1419)atG>atA		KIAA1109							95.0	87.0	90.0					4																	123122202		1901	4134	6035	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123122202G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1419G>A	4.37:g.123122202G>A	ENSP00000264501:p.Met473Ile					KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M473I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M473I	p.M473I			Q2LD37	K1109_HUMAN			15	1792	+			473					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1419G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.138304|5.138304	0.94560|0.94560	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.93953	.|-3.32;-3.32;-3.32	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|3.488960	.|0.02214	.|U	.|0.063421	D|D	0.96178|0.96178	0.8754|0.8754	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P	.|0.50528	.|0.936	.|P	.|0.61201	.|0.885	D|D	0.85515|0.85515	0.1200|0.1200	5|10	.|0.34782	.|T	.|0.22	.|.	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|473	.|Q2LD37	.|K1109_HUMAN	T|I	306|473	.|ENSP00000264501:M473I;ENSP00000373390:M473I;ENSP00000389925:M473I	.|ENSP00000264501:M473I	A|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123341652|123341652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.750000|9.750000	0.98875|0.98875	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCC|ATG		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		22	24	0	0	0	1	0	22	24				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862625	10862625	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10862625G>A	ENST00000559480.1	+	0	4							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CCTTACCATGGACTGGAATTG	0.493																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															331.0	307.0	315.0					21																	10862625		1959	4156	6115			0							g.chr21:10862625G>A			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862625G>A														0	4	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.493	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		31	198	0	0	0	1	0	31	198				
CRHR2	1395	broad.mit.edu	37	7	30705216	30705216	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30705216C>T	ENST00000471646.1	-	4	772	c.355G>A	c.(355-357)Gtc>Atc	p.V119I	CRHR2_ENST00000348438.4_Missense_Mutation_p.V146I|CRHR2_ENST00000341843.4_Missense_Mutation_p.V105I|CRHR2_ENST00000506074.2_Missense_Mutation_p.V119I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	119					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTAGTTGACGACAAGGGCG	0.632																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(355-357)Gtc>Atc		corticotropin releasing hormone receptor 2							114.0	73.0	87.0					7																	30705216		2199	4289	6488	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30705216C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.355G>A	7.37:g.30705216C>T	ENSP00000418722:p.Val119Ile					CRHR2_ENST00000348438.4_Missense_Mutation_p.V146I|CRHR2_ENST00000341843.4_Missense_Mutation_p.V105I|CRHR2_ENST00000506074.2_Missense_Mutation_p.V119I	p.V119I	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			4	772	-			119					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.355G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.865284	0.00547	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.08	-2.22	0.06952	GPCR, family 2-like (1);	0.431955	0.25186	N	0.032499	T	0.05914	0.0154	N	0.00263	-1.745	0.19300	N	0.999975	B;B;B;B;B	0.11235	0.002;0.004;0.002;0.0;0.002	B;B;B;B;B	0.08055	0.003;0.003;0.001;0.001;0.003	T	0.40117	-0.9580	10	0.02654	T	1	.	6.5528	0.22444	0.0:0.3179:0.1356:0.5466	.	118;119;146;105;119	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	I	119;146;105;119	ENSP00000418722:V119I;ENSP00000340943:V146I;ENSP00000344304:V105I;ENSP00000426498:V119I	ENSP00000344304:V105I	V	-	1	0	CRHR2	30671741	0.453000	0.25721	0.015000	0.15790	0.073000	0.16967	0.585000	0.23879	-0.338000	0.08413	-0.773000	0.03387	GTC		0.632	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			3	5	0	0	0	1	0	3	5				
SDK2	54549	broad.mit.edu	37	17	71431641	71431641	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71431641G>A	ENST00000392650.3	-	9	1143	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SDK2_ENST00000388726.3_Silent_p.F381F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	381	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CATTGCGGGCGAAGCACTGGA	0.637																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1141-1143)ttC>ttT		sidekick cell adhesion molecule 2							56.0	41.0	46.0					17																	71431641		2203	4297	6500	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71431641G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1143C>T	17.37:g.71431641G>A						SDK2_ENST00000388726.3_Silent_p.F381F	p.F381F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			9	1143	-			381			Ig-like C2-type 4.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1143C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	9.392	1.075848	0.20227	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.75	-3.95	0.04118	.	.	.	.	.	T	0.62122	0.2402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60885	-0.7174	4	.	.	.	.	12.9413	0.58345	0.6695:0.0:0.3305:0.0	.	.	.	.	C	286	.	.	R	-	1	0	SDK2	68943236	0.000000	0.05858	0.932000	0.37286	0.797000	0.45037	-1.849000	0.01672	-0.811000	0.04369	-0.424000	0.05967	CGC		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		6	7	0	0	0	1	0	6	7				
DNMT1	1786	broad.mit.edu	37	19	10291513	10291513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10291513C>A	ENST00000340748.4	-	3	401	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	DNMT1_ENST00000540357.1_Nonsense_Mutation_p.E56*|DNMT1_ENST00000359526.4_Nonsense_Mutation_p.E56*			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	56	DMAP-interaction.|Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTCTTTATTTCTGTTTGCAGA	0.378																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(166-168)Gaa>Taa		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						134.0	134.0	134.0					19																	10291513		2203	4300	6503	SO:0001587	stop_gained	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291513C>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.166G>T	19.37:g.10291513C>A	ENSP00000345739:p.Glu56*					DNMT1_ENST00000359526.4_Nonsense_Mutation_p.E56*|DNMT1_ENST00000540357.1_Nonsense_Mutation_p.E56*	p.E56*			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		3	401	-			56			Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Nonsense_Mutation	SNP	ENST00000340748.4	37	c.166G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	c	38	6.956341	0.97964	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748	.	.	.	5.8	5.8	0.92144	.	0.056421	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8864	0.92379	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000345739:E56X	E	-	1	0	DNMT1	10152513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.309000	0.59135	2.761000	0.94854	0.650000	0.86243	GAA		0.378	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	30	1	0	0.000602214	1	0.000612743	5	30				
CYP4F22	126410	broad.mit.edu	37	19	15662225	15662225	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15662225A>T	ENST00000269703.3	+	14	1738	c.1539A>T	c.(1537-1539)atA>atT	p.I513I	CYP4F22_ENST00000601005.2_Silent_p.I513I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	513						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGAGCTCATACTGCGCACGG	0.706																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1537-1539)atA>atT		cytochrome P450, family 4, subfamily F, polypeptide 22							33.0	26.0	28.0					19																	15662225		2203	4297	6500	SO:0001819	synonymous_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15662225A>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1539A>T	19.37:g.15662225A>T						CYP4F22_ENST00000601005.2_Silent_p.I513I	p.I513I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			14	1738	+			513					Q8N8H4	Silent	SNP	ENST00000269703.3	37	c.1539A>T	CCDS12331.1																																																																																				0.706	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		5	9	0	0	0	1	0	5	9				
RELN	5649	broad.mit.edu	37	7	103191624	103191624	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103191624G>A	ENST00000428762.1	-	41	6351	c.6192C>T	c.(6190-6192)caC>caT	p.H2064H	RELN_ENST00000424685.2_Silent_p.H2064H|RELN_ENST00000343529.5_Silent_p.H2064H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2064					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGAGCTGACGTGGCTGCTGC	0.602																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6190-6192)caC>caT		reelin							76.0	56.0	63.0					7																	103191624		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191624G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6192C>T	7.37:g.103191624G>A						RELN_ENST00000343529.5_Silent_p.H2064H|RELN_ENST00000428762.1_Silent_p.H2064H	p.H2064H			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6351	-			2064					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.6192C>T	CCDS47680.1																																																																																				0.602	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	17	0	0	0	1	0	12	17				
OR2T12	127064	broad.mit.edu	37	1	248458151	248458151	+	Missense_Mutation	SNP	C	C	G	rs369908991		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248458151C>G	ENST00000317996.1	-	1	729	c.730G>C	c.(730-732)Gct>Cct	p.A244P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCCACCACAGCCACATGTGAA	0.512																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(730-732)Gct>Cct		olfactory receptor, family 2, subfamily T, member 12							78.0	78.0	78.0					1																	248458151		2203	4297	6500	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458151C>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.730G>C	1.37:g.248458151C>G	ENSP00000324583:p.Ala244Pro						p.A244P	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	729	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		244						Missense_Mutation	SNP	ENST00000317996.1	37	c.730G>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	15.62	2.887202	0.52014	.	.	ENSG00000177201	ENST00000317996	T	0.38887	1.11	1.55	-1.22	0.09494	GPCR, rhodopsin-like superfamily (1);	0.744958	0.10900	U	0.621742	T	0.57489	0.2057	M	0.83774	2.66	0.09310	N	1	D	0.61697	0.99	D	0.67725	0.953	T	0.46992	-0.9151	10	0.87932	D	0	.	3.4517	0.07501	0.0:0.3847:0.2115:0.4038	.	244	Q8NG77	O2T12_HUMAN	P	244	ENSP00000324583:A244P	ENSP00000324583:A244P	A	-	1	0	OR2T12	246524774	0.000000	0.05858	0.246000	0.24233	0.701000	0.40568	-1.292000	0.02772	0.645000	0.30675	0.175000	0.17021	GCT		0.512	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		12	55	0	0	0	1	0	12	55				
GLIPR1L1	256710	broad.mit.edu	37	12	75728642	75728642	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:75728642G>A	ENST00000378695.4	+	1	224	c.134G>A	c.(133-135)cGt>cAt	p.R45H	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.R45H			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	45	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AACGAATGGCGTGGCAAAGTC	0.498											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(133-135)cGt>cAt		GLI pathogenesis-related 1 like 1							104.0	98.0	100.0					12																	75728642		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75728642G>A	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.134G>A	12.37:g.75728642G>A	ENSP00000367967:p.Arg45His		OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1162	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.R45H|CAPS2_ENST00000442339.2_Intron	p.R45H	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			1	180	+			45					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.134G>A		.	.	.	.	.	.	.	.	.	.	G	22.0	4.235568	0.79800	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.57752	0.38;0.38	4.81	4.81	0.61882	CAP domain (3);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	H	0.98996	4.395	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90075	0.4166	10	0.87932	D	0	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	45;45	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	H	45	ENSP00000367967:R45H;ENSP00000310770:R45H	ENSP00000310770:R45H	R	+	2	0	GLIPR1L1	74014909	0.930000	0.31532	0.044000	0.18714	0.125000	0.20455	5.322000	0.65852	2.225000	0.72522	0.563000	0.77884	CGT		0.498	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		9	31	0	0	0	1	0	9	31				
MOG	4340	broad.mit.edu	37	6	29641216	29641216	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29641216C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I|ZFP57_ENST00000376883.1_Missense_Mutation_p.M204I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCCCAAGATGCATGCGTCTGT	0.547																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(610-612)atG>atA		ZFP57 zinc finger protein							89.0	101.0	97.0					6																	29641216		1363	2608	3971	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641216C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641216C>T						ZFP57_ENST00000376881.3_Missense_Mutation_p.M204I|ZFP57_ENST00000488757.1_Missense_Mutation_p.M224I	p.M204I			Q9NU63	ZFP57_HUMAN			6	1023	-			140					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.612G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792387	0.00623	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.16743	2.32;2.32;2.32	4.4	0.484	0.16825	.	0.954223	0.08666	N	0.911597	T	0.00936	0.0031	N	0.01015	-1.05	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47522	-0.9111	10	0.02654	T	1	-0.2227	4.108	0.10045	0.0:0.3668:0.3379:0.2953	.	224;204	Q9NU63-3;Q9NU63-2	.;.	I	224;204;204	ENSP00000418259:M224I;ENSP00000366078:M204I;ENSP00000366080:M204I	ENSP00000366078:M204I	M	-	3	0	ZFP57	29749195	0.000000	0.05858	0.044000	0.18714	0.048000	0.14542	-1.245000	0.02899	0.206000	0.20587	0.650000	0.86243	ATG		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		27	44	0	0	0	1	0	27	44				
PPIP5K2	23262	broad.mit.edu	37	5	102472454	102472454	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102472454C>T	ENST00000358359.3	+	4	838	c.329C>T	c.(328-330)gCg>gTg	p.A110V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A110V|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A110V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	110					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGACAAAGCGGTTGCCTAT	0.353																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(328-330)gCg>gTg		diphosphoinositol pentakisphosphate kinase 2							166.0	181.0	176.0					5																	102472454		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472454C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.329C>T	5.37:g.102472454C>T	ENSP00000351126:p.Ala110Val					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A110V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A110V	p.A110V			O43314	VIP2_HUMAN			4	902	+			110					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.329C>T		.	.	.	.	.	.	.	.	.	.	C	27.7	4.856446	0.91355	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T	0.28255	1.66;1.62;1.66	5.43	5.43	0.79202	.	0.167210	0.40818	N	0.001001	T	0.54647	0.1871	M	0.80028	2.48	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.994	B;P;B	0.56514	0.411;0.8;0.387	T	0.58567	-0.7614	10	0.56958	D	0.05	-5.3725	19.5837	0.95482	0.0:1.0:0.0:0.0	.	32;110;110	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	V	110;32;110;110;110;40	ENSP00000313070:A110V;ENSP00000351126:A110V;ENSP00000416016:A110V	ENSP00000313070:A110V	A	+	2	0	PPIP5K2	102500353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.702000	0.92279	0.467000	0.42956	GCG		0.353	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		51	82	0	0	0	1	0	51	82				
FGFR1OP2	26127	broad.mit.edu	37	12	27109595	27109595	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27109595T>C	ENST00000229395.3	+	3	595		c.e3+2		FGFR1OP2_ENST00000546072.1_Splice_Site|FGFR1OP2_ENST00000327214.5_Splice_Site	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2						wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AAAACAAAGGTAAGATACGTT	0.388																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.e3+2		FGFR1 oncogene partner 2							85.0	77.0	80.0					12																	27109595		2203	4300	6503	SO:0001630	splice_region_variant	26127					cytoplasm		g.chr12:27109595T>C	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.253+2T>C	12.37:g.27109595T>C						FGFR1OP2_ENST00000546072.1_Splice_Site|FGFR1OP2_ENST00000327214.5_Splice_Site		NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			3	595	+	Colorectal(261;0.0847)							Q6R955|Q8N5L7|Q9P034|Q9UFK8	Splice_Site	SNP	ENST00000229395.3	37		CCDS8709.1	.	.	.	.	.	.	.	.	.	.	t	11.27	1.588184	0.28357	.	.	ENSG00000111790	ENST00000229395;ENST00000546072;ENST00000327214	.	.	.	4.47	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9986	0.47591	0.0:0.2394:0.0:0.7606	.	.	.	.	.	-1	.	.	.	+	.	.	FGFR1OP2	27000862	1.000000	0.71417	0.990000	0.47175	0.700000	0.40528	1.920000	0.40025	-0.306000	0.08818	-1.002000	0.02502	.		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	Intron	17	40	0	0	0	1	0	17	40				
GPR123	84435	broad.mit.edu	37	10	134896280	134896280	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:134896280C>T	ENST00000607359.1	+	7	1292	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGCCGTCCCCCTGTAAGCCT	0.662																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1291-1293)cCc>cTc		G protein-coupled receptor 123							24.0	29.0	27.0					10																	134896280		1567	3579	5146	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896280C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1292C>T	10.37:g.134896280C>T	ENSP00000475778:p.Pro431Leu						p.P431L			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1292	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.1292C>T		.	.	.	.	.	.	.	.	.	.	C	3.206	-0.162605	0.06502	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.32	-1.49	0.08718	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.31099	N	0.710612	P	0.44344	0.833	B	0.35182	0.197	T	0.17228	-1.0376	6	0.87932	D	0	.	3.35	0.07149	0.2878:0.4274:0.2848:0.0	.	431	Q86SQ6-1	.	L	431	.	ENSP00000357566:P431L	P	+	2	0	GPR123	134746270	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.091000	0.11146	-0.334000	0.08463	0.420000	0.28162	CCC		0.662	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			3	8	0	0	0	1	0	3	8				
TGFBR3	7049	broad.mit.edu	37	1	92193276	92193276	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:92193276G>A	ENST00000525962.1	-	6	886	c.825C>T	c.(823-825)tgC>tgT	p.C275C	TGFBR3_ENST00000212355.4_Silent_p.C275C|TGFBR3_ENST00000468996.2_5'Flank|TGFBR3_ENST00000370399.2_Silent_p.C275C			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	275					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CAGACTTTTTGCACTTCAAGA	0.363																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(823-825)tgC>tgT		transforming growth factor, beta receptor III							104.0	99.0	100.0					1																	92193276		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92193276G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.825C>T	1.37:g.92193276G>A						TGFBR3_ENST00000370399.2_Silent_p.C275C|TGFBR3_ENST00000525962.1_Silent_p.C275C	p.C275C	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	7	1290	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	275					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.825C>T	CCDS30770.1																																																																																				0.363	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		33	35	0	0	0	1	0	33	35				
POLRMT	5442	broad.mit.edu	37	19	623584	623584	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:623584G>A	ENST00000588649.2	-	6	1244	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	387					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		GTGCAGCTTCGGGTAGGACAC	0.647																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1159-1161)cCg>cTg		polymerase (RNA) mitochondrial (DNA directed)							50.0	47.0	48.0					19																	623584		2202	4300	6502	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:623584G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1160C>T	19.37:g.623584G>A	ENSP00000465759:p.Pro387Leu					LLNLR-299G3.1_ENST00000607288.1_RNA	p.P387L	NM_005035.3	NP_005026.3	O00411	RPOM_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)	6	1244	-		all_epithelial(18;2.78e-22)|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)	387					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1160C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.727592	0.48833	.	.	ENSG00000099821	ENST00000215591	T	0.38887	1.11	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	M	0.77103	2.36	0.80722	D	1	D	0.60160	0.987	P	0.50405	0.64	T	0.63875	-0.6538	10	0.72032	D	0.01	-48.1247	14.9891	0.71371	0.0:0.0:1.0:0.0	.	387	O00411	RPOM_HUMAN	L	387	ENSP00000215591:P387L	ENSP00000215591:P387L	P	-	2	0	POLRMT	574584	1.000000	0.71417	0.992000	0.48379	0.109000	0.19521	4.423000	0.59861	2.276000	0.75962	0.561000	0.74099	CCG		0.647	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		9	13	0	0	0	1	0	9	13				
SLC5A10	125206	broad.mit.edu	37	17	18923680	18923680	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18923680T>C	ENST00000395645.3	+	15	1745	c.1727T>C	c.(1726-1728)gTc>gCc	p.V576A	SLC5A10_ENST00000417251.2_Missense_Mutation_p.V540A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V549A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V592A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V546A|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V546A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	576					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGGGCCCGTGTCTGTGGCTTC	0.542																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1636-1638)gTc>gCc		solute carrier family 5 (sodium/sugar cotransporter), member 10							154.0	130.0	138.0					17																	18923680		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923680T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1727T>C	17.37:g.18923680T>C	ENSP00000379007:p.Val576Ala					SLC5A10_ENST00000395645.3_Missense_Mutation_p.V576A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V540A|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V546A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.V549A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V592A	p.V546A			A0PJK1	SC5AA_HUMAN			15	2208	+			576					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.1637T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830118	0.91036	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.91237	-2.81;-2.27;-2.81;-2.33;-2.19;-2.31	5.09	5.09	0.68999	.	0.055559	0.64402	D	0.000001	D	0.93436	0.7906	M	0.74258	2.255	0.45822	D	0.998699	P;P;P;D;D	0.56287	0.917;0.95;0.862;0.975;0.968	B;P;B;P;P	0.55391	0.214;0.775;0.445;0.775;0.747	D	0.93948	0.7229	10	0.59425	D	0.04	.	15.0368	0.71754	0.0:0.0:0.0:1.0	.	540;549;576;592;546	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	A	546;592;546;540;576;549	ENSP00000324346:V546A;ENSP00000379008:V592A;ENSP00000379004:V546A;ENSP00000401875:V540A;ENSP00000379007:V576A;ENSP00000379005:V549A	ENSP00000324346:V546A	V	+	2	0	SLC5A10	18864405	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	6.752000	0.74898	2.134000	0.65973	0.529000	0.55759	GTC		0.542	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	74	0	0	0	1	0	4	74				
SLC6A13	6540	broad.mit.edu	37	12	333659	333659	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:333659C>T	ENST00000343164.4	-	10	1133	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	SLC6A13_ENST00000445055.2_Missense_Mutation_p.A269T|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	361					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGCGGGTAAGCGATGAAAGCC	0.622																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1081-1083)Gct>Act		solute carrier family 6 (neurotransmitter transporter), member 13							99.0	88.0	92.0					12																	333659		2202	4299	6501	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333659C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1081G>A	12.37:g.333659C>T	ENSP00000339260:p.Ala361Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.A269T	p.A361T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1133	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		361					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1081G>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483684	0.96307	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73789	-0.78;-0.78	5.61	5.61	0.85477	.	0.047636	0.85682	D	0.000000	D	0.85805	0.5782	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.989	D;P;D	0.85130	0.997;0.853;0.939	D	0.85484	0.1181	10	0.52906	T	0.07	.	19.6362	0.95735	0.0:1.0:0.0:0.0	.	269;340;361	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	269;340;361	ENSP00000407104:A269T;ENSP00000339260:A361T	ENSP00000318097:A340T	A	-	1	0	SLC6A13	203920	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.096000	0.71446	2.646000	0.89796	0.448000	0.29417	GCT		0.622	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	25	0	0	0	1	0	4	25				
ZNF250	58500	broad.mit.edu	37	8	146107193	146107193	+	Missense_Mutation	SNP	G	G	A	rs141960807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:146107193G>A	ENST00000292579.7	-	6	1506	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R459W	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ATCAGAGACCGGCGTGCACTG	0.547																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(1390-1392)Cgg>Tgg		zinc finger protein 250		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	89.0	82.0	85.0		1375,1390	-2.2	0.0	8	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF250	NM_001109689.3,NM_021061.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	459/556,464/561	146107193	1,13005	2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107193G>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1390C>T	8.37:g.146107193G>A	ENSP00000292579:p.Arg464Trp					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R459W	p.R464W	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1506	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		464					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.1390C>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262148	0.23051	0.0	1.16E-4	ENSG00000196150	ENST00000292579;ENST00000417550	T;T	0.08102	3.13;3.13	4.11	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.314890	0.23026	N	0.052785	T	0.09335	0.0230	L	0.41906	1.305	0.09310	N	1	D;D	0.76494	0.988;0.999	P;P	0.50570	0.644;0.642	T	0.15350	-1.0440	10	0.72032	D	0.01	-23.2621	8.1269	0.31003	0.1722:0.0:0.5519:0.2759	.	459;464	D3DWP1;P15622	.;ZN250_HUMAN	W	464;459	ENSP00000292579:R464W;ENSP00000393442:R459W	ENSP00000292579:R464W	R	-	1	2	ZNF250	146077997	0.000000	0.05858	0.029000	0.17559	0.174000	0.22865	-1.945000	0.01537	-0.395000	0.07715	0.491000	0.48974	CGG		0.547	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		16	18	0	0	0	1	0	16	18				
PCDHA11	56138	broad.mit.edu	37	5	140250647	140250647	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250647C>T	ENST00000398640.2	+	1	1959	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.677																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1957-1959)caC>caT									33.0	38.0	36.0					5																	140250647		2202	4297	6499	SO:0001819	synonymous_variant	0							g.chr5:140250647C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1959C>T	5.37:g.140250647C>T						PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.H653H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1959	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1959C>T	CCDS47284.1																																																																																				0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		25	31	0	0	0	1	0	25	31				
DUSP14	11072	broad.mit.edu	37	17	35872544	35872544	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35872544T>C	ENST00000487847.1	+	2	1148	c.170T>C	c.(169-171)gTt>gCt	p.V57A	DUSP14_ENST00000394389.4_Missense_Mutation_p.V57A|DUSP14_ENST00000394386.1_Missense_Mutation_p.V57A			O95147	DUS14_HUMAN	dual specificity phosphatase 14	57					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ACCTGCATTGTTAATGCTACC	0.512																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(169-171)gTt>gCt		dual specificity phosphatase 14							116.0	96.0	103.0					17																	35872544		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872544T>C	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.170T>C	17.37:g.35872544T>C	ENSP00000466299:p.Val57Ala					DUSP14_ENST00000394386.1_Missense_Mutation_p.V57A|DUSP14_ENST00000394389.4_Missense_Mutation_p.V57A	p.V57A			O95147	DUS14_HUMAN			2	1148	+		Breast(25;0.00637)|Ovarian(249;0.15)	57						Missense_Mutation	SNP	ENST00000487847.1	37	c.170T>C	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528232	0.85706	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.69306	-0.39;-0.39	6.16	6.16	0.99307	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.182306	0.47093	D	0.000259	T	0.74718	0.3753	M	0.84846	2.72	0.50467	D	0.999871	B	0.29590	0.25	B	0.35073	0.195	T	0.75944	-0.3139	10	0.87932	D	0	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	57	O95147	DUS14_HUMAN	A	57	ENSP00000377912:V57A;ENSP00000377910:V57A	ENSP00000377910:V57A	V	+	2	0	DUSP14	32946657	1.000000	0.71417	0.489000	0.27452	0.988000	0.76386	8.015000	0.88690	2.367000	0.80283	0.528000	0.53228	GTT		0.512	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		28	34	0	0	0	1	0	28	34				
U2AF2	11338	broad.mit.edu	37	19	56170636	56170636	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56170636G>A	ENST00000308924.4	+	2	150	c.110G>A	c.(109-111)cGc>cAc	p.R37H	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.R37H|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	37	Arg/Ser-rich (RS domain).|Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCGGGACCGCAAACGCCGG	0.711																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(109-111)cGc>cAc		U2 small nuclear RNA auxiliary factor 2																																				SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56170636G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.110G>A	19.37:g.56170636G>A	ENSP00000307863:p.Arg37His					U2AF2_ENST00000308924.4_Missense_Mutation_p.R37H	p.R37H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	1069	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	37			Arg/Ser-rich (RS domain).		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.110G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423479	0.83559	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.13538	2.58;2.59	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	L	0.46157	1.445	0.80722	D	1	D;P	0.54047	0.964;0.94	B;P	0.45474	0.289;0.482	T	0.03898	-1.0994	10	0.31617	T	0.26	-18.3011	15.4549	0.75305	0.0:0.0:1.0:0.0	.	37;37	P26368;P26368-2	U2AF2_HUMAN;.	H	37	ENSP00000307863:R37H;ENSP00000388475:R37H	ENSP00000307863:R37H	R	+	2	0	U2AF2	60862448	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.227000	0.72282	2.244000	0.73946	0.485000	0.47835	CGC		0.711	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		5	10	0	0	0	1	0	5	10				
F5	2153	broad.mit.edu	37	1	169492481	169492481	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169492481T>G	ENST00000367797.3	-	21	6203	c.6002A>C	c.(6001-6003)cAg>cCg	p.Q2001P	F5_ENST00000367796.3_Missense_Mutation_p.Q2006P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2001	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAGTTGATCTGGTTGGAACT	0.433																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6016-6018)cAg>cCg		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						217.0	194.0	202.0					1																	169492481		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169492481T>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6002A>C	1.37:g.169492481T>G	ENSP00000356771:p.Gln2001Pro					F5_ENST00000367797.3_Missense_Mutation_p.Q2001P	p.Q2006P			P12259	FA5_HUMAN			21	6218	-	all_hematologic(923;0.208)		2001			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6017A>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374945	0.42105	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98862	-5.19;-5.19	5.49	-6.81	0.01704	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	1.685430	0.02775	N	0.120124	D	0.96491	0.8855	L	0.39245	1.2	0.31108	N	0.7102820000000001	P	0.51449	0.945	P	0.51487	0.671	D	0.89093	0.3484	9	0.46703	T	0.11	5.2015	16.7535	0.85493	0.0:0.559:0.0:0.441	.	2001	P12259	FA5_HUMAN	P	2001;2006	ENSP00000356771:Q2001P;ENSP00000356770:Q2006P	ENSP00000356770:Q2006P	Q	-	2	0	F5	167759105	0.000000	0.05858	0.001000	0.08648	0.751000	0.42716	-0.413000	0.07123	-1.345000	0.02214	-0.263000	0.10527	CAG		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	32	0	0	0	1	0	30	32				
TMEM165	55858	broad.mit.edu	37	4	56284135	56284135	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56284135G>A	ENST00000381334.5	+	4	1008	c.775G>A	c.(775-777)Gta>Ata	p.V259I	TMEM165_ENST00000542052.1_Missense_Mutation_p.V196I|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	259					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AACTACAATTGTATTGGCAGC	0.358																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(775-777)Gta>Ata		transmembrane protein 165							89.0	87.0	88.0					4																	56284135		2203	4300	6503	SO:0001583	missense	55858					integral to membrane		g.chr4:56284135G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.775G>A	4.37:g.56284135G>A	ENSP00000370736:p.Val259Ile					TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.V196I	p.V259I	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		4	1008	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		259					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	ENST00000381334.5	37	c.775G>A	CCDS3499.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.973702	0.02215	.	.	ENSG00000134851	ENST00000381334;ENST00000542052	D;D	0.82526	-1.62;-1.62	5.42	5.42	0.78866	.	0.069027	0.64402	D	0.000018	T	0.63498	0.2516	N	0.01576	-0.805	0.40308	D	0.978688	B;B	0.19073	0.001;0.033	B;B	0.17098	0.009;0.017	T	0.61623	-0.7025	10	0.25106	T	0.35	-21.4931	17.3999	0.87456	0.0:0.0:1.0:0.0	.	196;259	B4DHW1;Q9HC07	.;TM165_HUMAN	I	259;196	ENSP00000370736:V259I;ENSP00000437816:V196I	ENSP00000370736:V259I	V	+	1	0	TMEM165	55978892	1.000000	0.71417	0.250000	0.24296	0.020000	0.10135	6.602000	0.74141	2.555000	0.86185	0.591000	0.81541	GTA		0.358	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		52	69	0	0	0	1	0	52	69				
SMC1B	27127	broad.mit.edu	37	22	45789573	45789573	+	Missense_Mutation	SNP	G	G	A	rs367777287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45789573G>A	ENST00000357450.4	-	9	1485	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	SMC1B_ENST00000404354.3_Missense_Mutation_p.R496C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	496	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTTGCTGACGTTTTCCCTCA	0.328													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18323	0.0		0.0	False		,,,				2504	0.0					ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1486-1488)Cgt>Tgt		structural maintenance of chromosomes 1B		G	CYS/ARG	0,3694		0,0,1847	139.0	124.0	129.0		1486	4.1	1.0	22		129	1,8203		0,1,4101	no	missense	SMC1B	NM_148674.3	180	0,1,5948	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	496/1236	45789573	1,11897	1847	4102	5949	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45789573G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1486C>T	22.37:g.45789573G>A	ENSP00000350036:p.Arg496Cys					SMC1B_ENST00000404354.3_Missense_Mutation_p.R496C	p.R496C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1485	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	496			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1486C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947544	0.73787	0.0	1.22E-4	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.86562	-2.14;-2.14	6.16	4.08	0.47627	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000008	D	0.93621	0.7963	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93653	0.6975	10	0.87932	D	0	.	8.2364	0.31629	0.1308:0.0:0.7432:0.126	.	496;496;496	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	C	496	ENSP00000350036:R496C;ENSP00000385902:R496C	ENSP00000350036:R496C	R	-	1	0	SMC1B	44168237	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	4.092000	0.57707	1.632000	0.50472	-0.142000	0.14014	CGT		0.328	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		9	69	0	0	0	1	0	9	69				
GPR21	2844	broad.mit.edu	37	9	125797091	125797091	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125797091C>T	ENST00000373642.1	+	1	286	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	82					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGGTGAGCTGCGTGGTCCCTT	0.433																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(244-246)tgC>tgT		G protein-coupled receptor 21							143.0	122.0	129.0					9																	125797091		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797091C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.246C>T	9.37:g.125797091C>T						RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	p.C82C	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	286	+			82					B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.246C>T	CCDS6849.1																																																																																				0.433	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		27	35	0	0	0	1	0	27	35				
PDE4DIP	9659	broad.mit.edu	37	1	144911932	144911932	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144911932C>A	ENST00000369354.3	-	16	2366	c.2177G>T	c.(2176-2178)aGc>aTc	p.S726I	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S889I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S792I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S863I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S513I|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S726I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S889I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S863I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	726					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAATGAAGTGCTATCATCTCT	0.383			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2665-2667)aGc>aTc		phosphodiesterase 4D interacting protein							238.0	221.0	227.0					1																	144911932		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144911932C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2177G>T	1.37:g.144911932C>A	ENSP00000358360:p.Ser726Ile					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S863I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S889I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S863I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S513I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S792I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S726I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S726I	p.S889I			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	12	3105	-			726					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2666G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.625949	0.14257	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12984	4.62;4.71;4.71;4.71;4.71;3.72;3.73;2.65;2.65;2.63	5.53	1.01	0.19927	.	.	.	.	.	T	0.02767	0.0083	N	0.19112	0.55	0.09310	N	1	B;B;B;B;P;B	0.43352	0.296;0.191;0.145;0.397;0.804;0.121	B;B;B;B;B;B	0.42738	0.079;0.146;0.054;0.156;0.396;0.043	T	0.35201	-0.9798	9	0.46703	T	0.11	.	1.3435	0.02159	0.228:0.446:0.1446:0.1813	.	889;513;726;889;792;726	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	I	792;726;726;889;863;863;726;726;889;889;513	ENSP00000327209:S792I;ENSP00000358360:S726I;ENSP00000358363:S726I;ENSP00000435654:S863I;ENSP00000358366:S863I;ENSP00000358357:S726I;ENSP00000358355:S726I;ENSP00000316434:S889I;ENSP00000433392:S889I;ENSP00000436791:S513I	ENSP00000327209:S792I	S	-	2	0	PDE4DIP	143623289	0.000000	0.05858	0.010000	0.14722	0.267000	0.26476	-0.223000	0.09177	0.726000	0.32339	0.650000	0.86243	AGC		0.383	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		26	139	1	0	1.08312e-15	1	1.18619e-15	26	139				
ANKRD26	22852	broad.mit.edu	37	10	27326939	27326939	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27326939G>A	ENST00000376087.4	-	22	2585	c.2420C>T	c.(2419-2421)aCg>aTg	p.T807M	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T823M|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T364M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	806					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.T807M(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCATACAACGTATCAGCATT	0.308																																						ENST00000376087.4																			1	Substitution - Missense(1)	p.T807M(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2419-2421)aCg>aTg		ankyrin repeat domain 26							138.0	120.0	126.0					10																	27326939		1822	4073	5895	SO:0001583	missense	22852					centrosome		g.chr10:27326939G>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2420C>T	10.37:g.27326939G>A	ENSP00000365255:p.Thr807Met					ANKRD26_ENST00000376070.3_Missense_Mutation_p.T364M|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T823M	p.T807M	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			22	2585	-			806					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2420C>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	A	5.266	0.234578	0.09969	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.13538	2.58;2.58;2.58	5.15	0.378	0.16204	.	0.565570	0.15742	N	0.246867	T	0.01976	0.0062	N	0.00170	-1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41770	-0.9490	10	0.02654	T	1	.	5.7529	0.18156	0.441:0.0:0.0757:0.4832	.	807;806;823	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	M	364;807;823	ENSP00000365238:T364M;ENSP00000365255:T807M;ENSP00000405112:T823M	ENSP00000365238:T364M	T	-	2	0	ANKRD26	27366945	0.168000	0.22989	0.000000	0.03702	0.986000	0.74619	1.042000	0.30303	-0.460000	0.07003	-0.352000	0.07741	ACG		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			27	26	0	0	0	1	0	27	26				
ATP6V1A	523	broad.mit.edu	37	3	113514787	113514787	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113514787G>A	ENST00000273398.3	+	11	1398		c.e11+1		ATP6V1A_ENST00000538620.1_Splice_Site	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TATCGTTCAGGTATGTCTTTC	0.378																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e11+1		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							149.0	139.0	142.0					3																	113514787		2203	4300	6503	SO:0001630	splice_region_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113514787G>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1290+1G>A	3.37:g.113514787G>A						ATP6V1A_ENST00000538620.1_Splice_Site		NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			11	1398	+								B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Splice_Site	SNP	ENST00000273398.3	37		CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729041	0.89390	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9829	0.92761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V1A	114997477	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.174000	0.94824	2.499000	0.84300	0.491000	0.48974	.		0.378	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	Intron	16	39	0	0	0	1	0	16	39				
PILRB	29990	broad.mit.edu	37	7	99956438	99956438	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99956438G>A	ENST00000452089.1	+	7	1249	c.190G>A	c.(190-192)Gtt>Att	p.V64I	PILRB_ENST00000444073.1_Missense_Mutation_p.V64I|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000609309.1_Missense_Mutation_p.V64I|PILRB_ENST00000610247.1_Missense_Mutation_p.V64I			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	64	Ig-like V-type.			IVPN -> TAPD (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGCCATAGTTCCCAACGT	0.532																																						ENST00000310771.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(190-192)Gtt>Att		paired immunoglobin-like type 2 receptor beta							69.0	70.0	70.0					7																	99956438		2194	4267	6461	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956438G>A	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.190G>A	7.37:g.99956438G>A	ENSP00000391748:p.Val64Ile					PILRB_ENST00000444073.1_Missense_Mutation_p.V64I|PILRB_ENST00000452089.1_Missense_Mutation_p.V64I|PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron	p.V64I			Q9UKJ0	PILRB_HUMAN			16	2686	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		64	IVPN -> TAPD (in Ref. 2; CAC19193).		Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.190G>A	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	G	3.199	-0.164215	0.06502	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	2.32	-1.13	0.09775	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.507400	0.04113	N	0.315070	T	0.11367	0.0277	N	0.14661	0.345	0.09310	N	1	B	0.24368	0.102	B	0.17979	0.02	T	0.24835	-1.0149	9	.	.	.	.	5.4847	0.16743	0.4865:0.0:0.5135:0.0	.	64	Q9UKJ0	PILRB_HUMAN	I	64;64;64;64;64;64;64;64;169;64	ENSP00000311153:V64I;ENSP00000391748:V64I;ENSP00000411261:V64I;ENSP00000403757:V64I;ENSP00000404321:V64I;ENSP00000389856:V64I;ENSP00000410764:V64I;ENSP00000408425:V64I	.	V	+	1	0	PILRB	99794374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.254000	0.08781	-0.533000	0.06323	-0.335000	0.08231	GTT		0.532	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		24	38	0	0	0	1	0	24	38				
HERC2P3	283755	broad.mit.edu	37	15	20588554	20588554	+	RNA	SNP	C	C	T	rs112526901	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:20588554C>T	ENST00000428453.1	-	0	4196							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTGGAAAGCGGTTGCAGAA	0.473																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															117.0	88.0	97.0					15																	20588554		2178	4238	6416			0							g.chr15:20588554C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588554C>T														0	4196	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.473	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		13	41	0	0	0	1	0	13	41				
SCGB1A1	7356	broad.mit.edu	37	11	62189771	62189771	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62189771C>T	ENST00000278282.2	+	2	195	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SCGB1A1_ENST00000534397.1_Missense_Mutation_p.A10V|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	45					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TATGAGGCTGCCATGGAACTT	0.547																																						ENST00000534397.1																			0				lung(1)	1						c.(28-30)gCc>gTc		secretoglobin, family 1A, member 1 (uteroglobin)							117.0	105.0	109.0					11																	62189771		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189771C>T		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.134C>T	11.37:g.62189771C>T	ENSP00000278282:p.Ala45Val					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000278282.2_Missense_Mutation_p.A45V	p.A10V			P11684	UTER_HUMAN			3	220	+			45					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.29C>T	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257321	0.59321	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.23552	1.9;1.9	4.86	2.98	0.34508	.	0.696652	0.12359	N	0.475814	T	0.30262	0.0759	.	.	.	0.09310	N	1	P	0.42409	0.779	P	0.46796	0.527	T	0.11743	-1.0575	9	0.66056	D	0.02	-16.2757	8.0103	0.30349	0.0:0.8088:0.0:0.1912	.	45	P11684	UTER_HUMAN	V	10;45	ENSP00000432866:A10V;ENSP00000278282:A45V	ENSP00000278282:A45V	A	+	2	0	SCGB1A1	61946347	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	2.013000	0.40942	0.586000	0.29626	-0.150000	0.13652	GCC		0.547	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		12	28	0	0	0	1	0	12	28				
PLA2G5	5322	broad.mit.edu	37	1	20412585	20412585	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20412585C>T	ENST00000375108.3	+	3	318	c.50C>T	c.(49-51)gCt>gTt	p.A17V	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	17					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		GGTGTGCCTGCTGTGCAAGGA	0.577																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(49-51)gCt>gTt		phospholipase A2, group V							88.0	74.0	79.0					1																	20412585		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412585C>T	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.50C>T	1.37:g.20412585C>T	ENSP00000364249:p.Ala17Val					PLA2G5_ENST00000486277.1_3'UTR	p.A17V	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	318	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	17					Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.50C>T	CCDS202.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477148	0.44044	.	.	ENSG00000127472	ENST00000375108	T	0.26660	1.72	5.25	1.13	0.20643	.	1.061990	0.07319	N	0.877320	T	0.16557	0.0398	N	0.25825	0.765	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31280	-0.9949	10	0.59425	D	0.04	-0.6188	3.1617	0.06522	0.1886:0.5163:0.0:0.2952	.	17	P39877	PA2G5_HUMAN	V	17	ENSP00000364249:A17V	ENSP00000364249:A17V	A	+	2	0	PLA2G5	20285172	0.000000	0.05858	0.290000	0.24890	0.942000	0.58702	-0.178000	0.09782	0.725000	0.32318	0.650000	0.86243	GCT		0.577	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		9	15	0	0	0	1	0	9	15				
PROSER1	80209	broad.mit.edu	37	13	39586877	39586877	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39586877C>T	ENST00000352251.3	-	11	3345	c.2512G>A	c.(2512-2514)Gcc>Acc	p.A838T	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A816T	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	838																	AATGCTGAGGCGAATCCTGGG	0.527																																						ENST00000352251.3																			0											c.(2512-2514)Gcc>Acc		proline and serine rich 1							57.0	69.0	65.0					13																	39586877		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39586877C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2512G>A	13.37:g.39586877C>T	ENSP00000332034:p.Ala838Thr					PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.A816T	p.A838T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			11	3345	-			838					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.2512G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930199	0.92389	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.57907	0.37;0.37	5.47	4.63	0.57726	.	.	.	.	.	T	0.60753	0.2293	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.89917	0.99;1.0	P;D	0.83275	0.602;0.996	T	0.58736	-0.7584	8	.	.	.	-22.0278	13.7605	0.62963	0.0:0.9255:0.0:0.0745	.	816;838	A6NJ97;Q86XN7	.;PRSR1_HUMAN	T	838;816	ENSP00000332034:A838T;ENSP00000339123:A816T	.	A	-	1	0	PROSER1	38484877	1.000000	0.71417	0.680000	0.29994	0.985000	0.73830	4.990000	0.63876	1.443000	0.47586	0.561000	0.74099	GCC		0.527	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		11	24	0	0	0	1	0	11	24				
METTL15	196074	broad.mit.edu	37	11	28318407	28318407	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:28318407C>A	ENST00000407364.3	+	6	1059	c.707C>A	c.(706-708)gCt>gAt	p.A236D	METTL15_ENST00000406787.3_Silent_p.R221R|METTL15_ENST00000303459.6_Missense_Mutation_p.A236D|METTL15_ENST00000342303.5_Missense_Mutation_p.A236D			A6NJ78	MET15_HUMAN	methyltransferase like 15	236							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGAAAATCGCTTCAGCAATT	0.488																																						ENST00000342303.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(706-708)gCt>gAt		methyltransferase like 15							124.0	107.0	113.0					11																	28318407		2202	4299	6501	SO:0001583	missense	196074						methyltransferase activity	g.chr11:28318407C>A	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.707C>A	11.37:g.28318407C>A	ENSP00000384369:p.Ala236Asp					METTL15_ENST00000406787.3_Silent_p.R221R|METTL15_ENST00000407364.3_Missense_Mutation_p.A236D|METTL15_ENST00000303459.6_Missense_Mutation_p.A236D	p.A236D	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN			6	1162	+			236					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	c.707C>A	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552112	0.86127	.	.	ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459	T;T;T	0.54071	0.59;0.59;0.59	5.43	5.43	0.79202	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);	0.058572	0.64402	D	0.000002	D	0.84019	0.5380	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.90410	0.4409	9	.	.	.	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	236;236	A6NJ78;A6NJ78-2	MET15_HUMAN;.	D	236	ENSP00000342259:A236D;ENSP00000384369:A236D;ENSP00000307251:A236D	.	A	+	2	0	METTL15	28274983	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.436000	0.80404	2.516000	0.84829	0.650000	0.86243	GCT		0.488	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		14	46	1	0	0.000219431	1	0.000224427	14	46				
KIF21B	23046	broad.mit.edu	37	1	200961481	200961481	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200961481G>A	ENST00000422435.2	-	16	2630	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R772W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R772W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R772W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	772					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGCCGCCGCCGCTGTTGCTCC	0.637																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2314-2316)Cgg>Tgg		kinesin family member 21B							75.0	68.0	70.0					1																	200961481		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200961481G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2314C>T	1.37:g.200961481G>A	ENSP00000411831:p.Arg772Trp					KIF21B_ENST00000422435.2_Missense_Mutation_p.R772W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R772W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R772W	p.R772W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			16	2630	-			772					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2314C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121499	0.77436	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.71036	2.16	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.965;0.965;0.997	T	0.52859	-0.8519	10	0.87932	D	0	.	14.48	0.67576	0.0:0.0:0.8524:0.1476	.	772;772;772;772	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	772	ENSP00000328494:R772W;ENSP00000353724:R772W;ENSP00000433808:R772W;ENSP00000411831:R772W	ENSP00000328494:R772W	R	-	1	2	KIF21B	199228104	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.744000	0.38268	2.422000	0.82143	0.491000	0.48974	CGG		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		29	39	0	0	0	1	0	29	39				
PCDHAC2	56134	broad.mit.edu	37	5	140348229	140348229	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140348229G>T	ENST00000289269.5	+	1	2410	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTAGCCCAGACTTCTGACC	0.507																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1876-1878)caG>caT									67.0	65.0	66.0					5																	140348229		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348229G>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1878G>T	5.37:g.140348229G>T	ENSP00000289269:p.Gln626His					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.Q626H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2410	+			626			Cadherin 6.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1878G>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	5.901	0.350262	0.11182	.	.	ENSG00000243232	ENST00000289269	T	0.59364	0.27	6.02	3.9	0.45041	Cadherin (4);Cadherin-like (1);	0.188277	0.26109	N	0.026297	T	0.42854	0.1221	L	0.39085	1.19	0.31139	N	0.706859	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.003	T	0.42949	-0.9421	10	0.49607	T	0.09	.	4.7529	0.13070	0.3652:0.1478:0.487:0.0	.	626;626	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	626	ENSP00000289269:Q626H	ENSP00000289269:Q626H	Q	+	3	2	PCDHAC2	140328413	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	0.230000	0.17852	0.638000	0.30545	-0.126000	0.14955	CAG		0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		15	18	1	0	6.72482e-11	1	7.20828e-11	15	18				
BCL9L	283149	broad.mit.edu	37	11	118773618	118773618	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118773618C>A	ENST00000334801.3	-	6	1799		c.e6-1		BCL9L_ENST00000526143.1_Splice_Site	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like						canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTTTAGGGGCCTGCAGAAGGA	0.677																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.e6-1		B-cell CLL/lymphoma 9-like							14.0	16.0	15.0					11																	118773618		2199	4294	6493	SO:0001630	splice_region_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773618C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.835-1G>T	11.37:g.118773618C>A						BCL9L_ENST00000526143.1_Splice_Site		NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	1799	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)						A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Splice_Site	SNP	ENST00000334801.3	37		CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087181	0.36855	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.68	0.69009	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL9L	118278828	1.000000	0.71417	0.984000	0.44739	0.545000	0.35147	2.833000	0.48159	2.133000	0.65898	0.305000	0.20034	.		0.677	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	Intron	6	3	1	0	0.0293803	1	0.0295506	6	3				
MAP3K19	80122	broad.mit.edu	37	2	135744355	135744355	+	Missense_Mutation	SNP	C	C	T	rs368406495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135744355C>T	ENST00000375845.3	-	7	2117	c.2087G>A	c.(2086-2088)cGt>cAt	p.R696H	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	696							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTGGTGATACGTCTGCCTGA	0.408																																						ENST00000375845.3																			0											c.(2086-2088)cGt>cAt		mitogen-activated protein kinase kinase kinase 19		C	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	172.0	176.0		,2087	3.9	0.0	2		176	0,8600		0,0,4300	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,696/1329	135744355	1,13005	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744355C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2087G>A	2.37:g.135744355C>T	ENSP00000365005:p.Arg696His					MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000315513.3_5'UTR	p.R696H	NM_025052.3	NP_079328.3					7	2117	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2087G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966170	0.18659	2.27E-4	0.0	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73469	-0.58;-0.58;1.81;-0.75	5.67	3.87	0.44632	.	0.630733	0.15002	N	0.286058	T	0.52191	0.1719	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.39181	0.663;0.663;0.533	B;B;B	0.32289	0.091;0.143;0.042	T	0.54070	-0.8348	10	0.66056	D	0.02	.	10.9869	0.47526	0.0:0.789:0.1406:0.0704	.	583;713;696	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	696;583;713;86	ENSP00000365005:R696H;ENSP00000351140:R583H;ENSP00000376647:R713H;ENSP00000392827:R86H	ENSP00000351140:R583H	R	-	2	0	YSK4	135460825	0.002000	0.14202	0.015000	0.15790	0.057000	0.15508	1.066000	0.30604	0.728000	0.32382	0.561000	0.74099	CGT		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		62	117	0	0	0	1	0	62	117				
RAB37	326624	broad.mit.edu	37	17	72736966	72736966	+	Silent	SNP	C	C	T	rs530556816		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72736966C>T	ENST00000392613.5	+	2	209	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392610.1_Silent_p.D51D|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000340415.3_Intron	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	51					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AATTCAAAGACGGGGCCTTCC	0.587																																						ENST00000392610.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(151-153)gaC>gaT		RAB37, member RAS oncogene family							140.0	139.0	139.0					17																	72736966		2203	4300	6503	SO:0001819	synonymous_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72736966C>T	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.153C>T	17.37:g.72736966C>T						RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron	p.D51D			Q96AX2	RAB37_HUMAN			2	194	+			51					A8MXF5|A8MYT0|Q8IWA7	Silent	SNP	ENST00000392613.5	37	c.153C>T	CCDS32722.1																																																																																				0.587	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		54	76	0	0	0	1	0	54	76				
COL4A3	1285	broad.mit.edu	37	2	228135612	228135612	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228135612G>A	ENST00000396578.3	+	25	1864	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	568	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGGCTTGGATGGAATTCC	0.507																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1702-1704)Gat>Aat		collagen, type IV, alpha 3 (Goodpasture antigen)							56.0	60.0	59.0					2																	228135612		1857	4095	5952	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228135612G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1702G>A	2.37:g.228135612G>A	ENSP00000379823:p.Asp568Asn					AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	p.D568N	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	25	1864	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	568			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1702G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314886	0.81358	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93247	-3.19	5.8	5.8	0.92144	.	0.311921	0.27730	N	0.018100	D	0.92143	0.7509	N	0.10916	0.065	0.48288	D	0.999624	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.74348	0.973;0.973;0.983;0.963	D	0.90134	0.4208	10	0.18710	T	0.47	.	16.9678	0.86290	0.0:0.0:1.0:0.0	.	568;568;568;568	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	N	568	ENSP00000379823:D568N	ENSP00000323334:D568N	D	+	1	0	COL4A3	227843856	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	4.490000	0.60319	2.740000	0.93945	0.650000	0.86243	GAT		0.507	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		14	16	0	0	0	1	0	14	16				
RAB11FIP3	9727	broad.mit.edu	37	16	521378	521378	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:521378G>A	ENST00000262305.4	+	3	1280	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.V298I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	298					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CGATGACTTCGTCACCTATGA	0.597																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(892-894)Gtc>Atc		RAB11 family interacting protein 3 (class II)							75.0	60.0	65.0					16																	521378		2202	4300	6502	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:521378G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.892G>A	16.37:g.521378G>A	ENSP00000262305:p.Val298Ile					RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.V298I	p.V298I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			3	1280	+		Hepatocellular(16;0.0218)	298					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.892G>A	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068666	0.20147	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	.	.	.	4.73	2.75	0.32379	.	.	.	.	.	T	0.43986	0.1272	L	0.47716	1.5	0.80722	D	1	B	0.32507	0.373	B	0.18871	0.023	T	0.37244	-0.9714	8	0.51188	T	0.08	-17.3552	8.72	0.34434	0.1839:0.0:0.8161:0.0	.	298	O75154	RFIP3_HUMAN	I	298;298;174	.	ENSP00000262305:V298I	V	+	1	0	RAB11FIP3	461379	0.974000	0.33945	0.818000	0.32626	0.211000	0.24417	2.731000	0.47343	0.678000	0.31325	0.557000	0.71058	GTC		0.597	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		7	3	0	0	0	1	0	7	3				
HIPK2	28996	broad.mit.edu	37	7	139257950	139257950	+	Missense_Mutation	SNP	G	G	A	rs375558560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139257950G>A	ENST00000406875.3	-	15	3414	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	HIPK2_ENST00000428878.2_Missense_Mutation_p.A1080V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1107	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCCGCCGGCGCAGTGTAGGT	0.721																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3319-3321)gCg>gTg		homeodomain interacting protein kinase 2		G	VAL/ALA,VAL/ALA	0,4080		0,0,2040	27.0	33.0	31.0		2189,2270	5.4	0.9	7		31	1,8321		0,1,4160	no	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	64,64	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	benign,benign	730/822,757/849	139257950	1,12401	2040	4161	6201	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257950G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3320C>T	7.37:g.139257950G>A	ENSP00000385571:p.Ala1107Val					HIPK2_ENST00000428878.2_Missense_Mutation_p.A1080V	p.A1107V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3414	-	Melanoma(164;0.205)		1107			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3320C>T		.	.	.	.	.	.	.	.	.	.	G	18.69	3.678197	0.68042	0.0	1.2E-4	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.56611	0.47;0.45	5.38	5.38	0.77491	.	.	.	.	.	T	0.51007	0.1649	.	.	.	0.50039	D	0.999849	B;B	0.31054	0.203;0.306	B;B	0.31337	0.06;0.128	T	0.53337	-0.8453	8	0.62326	D	0.03	.	19.134	0.93418	0.0:0.0:1.0:0.0	.	1107;1080	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	V	1107;1080	ENSP00000385571:A1107V;ENSP00000413724:A1080V	ENSP00000385571:A1107V	A	-	2	0	HIPK2	138908490	1.000000	0.71417	0.943000	0.38184	0.810000	0.45777	8.998000	0.93550	2.532000	0.85374	0.655000	0.94253	GCG		0.721	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		22	16	0	0	0	1	0	22	16				
BOC	91653	broad.mit.edu	37	3	112969475	112969475	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112969475C>T	ENST00000495514.1	+	4	875	c.171C>T	c.(169-171)tgC>tgT	p.C57C	BOC_ENST00000355385.3_Silent_p.C57C|BOC_ENST00000273395.4_Silent_p.C57C|BOC_ENST00000484034.1_Silent_p.C57C|BOC_ENST00000485230.1_Silent_p.C57C			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	57	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCTTGGGCTGCGTGGTGGAAC	0.597																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(169-171)tgC>tgT		BOC cell adhesion associated, oncogene regulated							136.0	129.0	132.0					3																	112969475		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969475C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.171C>T	3.37:g.112969475C>T						BOC_ENST00000484034.1_Silent_p.C57C|BOC_ENST00000355385.3_Silent_p.C57C|BOC_ENST00000273395.4_Silent_p.C57C|BOC_ENST00000485230.1_Silent_p.C57C	p.C57C			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	875	+			57			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.171C>T	CCDS2971.1																																																																																				0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		21	24	0	0	0	1	0	21	24				
ZNF516	9658	broad.mit.edu	37	18	74153283	74153283	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74153283G>A	ENST00000443185.2	-	3	2045	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTCAGCAGCGGCACAGGCGG	0.706																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1726-1728)gcC>gcT		zinc finger protein 516							10.0	14.0	13.0					18																	74153283		2003	4100	6103	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153283G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1728C>T	18.37:g.74153283G>A						ZNF516_ENST00000524431.2_5'UTR	p.A576A	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2045	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	576						Silent	SNP	ENST00000443185.2	37	c.1728C>T																																																																																					0.706	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		10	18	0	0	0	1	0	10	18				
RGR	5995	broad.mit.edu	37	10	86017727	86017727	+	Missense_Mutation	SNP	G	G	A	rs558105831		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:86017727G>A	ENST00000359452.4	+	6	759	c.721G>A	c.(721-723)Gca>Aca	p.A241T	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	237			S -> F. {ECO:0000269|PubMed:10581022}.		chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGCAGTCATCGCAGACGTGAC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20018	0.001		0.0	False		,,,				2504	0.0				NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(721-723)Gca>Aca		retinal G protein coupled receptor							89.0	77.0	81.0					10																	86017727		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017727G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.721G>A	10.37:g.86017727G>A	ENSP00000352427:p.Ala241Thr					RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	p.A241T	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			6	759	+			237		S -> F.			A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.721G>A	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966533	0.53507	.	.	ENSG00000148604	ENST00000359452	T	0.36878	1.23	4.65	0.364	0.16124	GPCR, rhodopsin-like superfamily (1);	0.367618	0.29900	N	0.010919	T	0.21145	0.0509	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.19583	0.037;0.029	B;B	0.21546	0.011;0.035	T	0.16335	-1.0406	10	0.22109	T	0.4	.	5.0816	0.14659	0.3758:0.142:0.4822:0.0	.	241;237	P47804-2;P47804	.;RGR_HUMAN	T	241	ENSP00000352427:A241T	ENSP00000352427:A241T	A	+	1	0	RGR	86007707	0.001000	0.12720	0.000000	0.03702	0.734000	0.41952	0.969000	0.29370	-0.041000	0.13558	0.655000	0.94253	GCA		0.512	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		9	25	0	0	0	1	0	9	25				
IVNS1ABP	10625	broad.mit.edu	37	1	185269591	185269591	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185269591C>T	ENST00000367498.3	-	11	1842	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R189Q|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	407					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CATTTGAAATCGGGCTCTTGG	0.438																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1219-1221)cGa>cAa		influenza virus NS1A binding protein							119.0	123.0	122.0					1																	185269591		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269591C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1220G>A	1.37:g.185269591C>T	ENSP00000356468:p.Arg407Gln					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R189Q	p.R407Q	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			11	1842	-			407					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1220G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532011	0.96446	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78003	-1.14;-1.14	5.76	5.76	0.90799	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.45285	1.41	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.998	D	0.84809	0.0789	10	0.52906	T	0.07	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	189;108;407	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	Q	407;189	ENSP00000356468:R407Q;ENSP00000375864:R189Q	ENSP00000356468:R407Q	R	-	2	0	IVNS1ABP	183536214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.679000	0.84048	2.706000	0.92434	0.655000	0.94253	CGA		0.438	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		30	65	0	0	0	1	0	30	65				
CHCHD5	84269	broad.mit.edu	37	2	113343953	113343953	+	Intron	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113343953C>A	ENST00000324913.5	+	3	516				AC012442.5_ENST00000414784.1_RNA|CHCHD5_ENST00000409719.1_Missense_Mutation_p.A107D	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5							mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						GTAAGAGGGGCTCACCTCAGT	0.567																																						ENST00000409719.1																			0				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						c.(319-321)gCt>gAt		coiled-coil-helix-coiled-coil-helix domain containing 5							41.0	40.0	41.0					2																	113343953		2203	4300	6503	SO:0001627	intron_variant	84269							g.chr2:113343953C>A	BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.309+11C>A	2.37:g.113343953C>A						CHCHD5_ENST00000324913.5_Intron	p.A107D			Q9BSY4	CHCH5_HUMAN			3	373	+			0					Q585T4|Q8N8C4	Missense_Mutation	SNP	ENST00000324913.5	37	c.320C>A	CCDS2098.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297821	0.40694	.	.	ENSG00000125611	ENST00000409719	.	.	.	2.96	2.96	0.34315	.	0.500582	0.14887	U	0.292602	T	0.56202	0.1969	.	.	.	0.09310	N	0.999997	D	0.76494	0.999	D	0.66716	0.946	T	0.37502	-0.9703	7	.	.	.	6.8824	9.6421	0.39846	0.0:1.0:0.0:0.0	.	107	Q8N8C4	.	D	107	.	.	A	+	2	0	CHCHD5	113060424	0.006000	0.16342	0.305000	0.25099	0.156000	0.22039	0.529000	0.23019	1.954000	0.56735	0.462000	0.41574	GCT		0.567	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2	NM_032309		12	12	1	0	0.00010058	1	0.000103117	12	12				
QTRT1	81890	broad.mit.edu	37	19	10823503	10823503	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10823503G>A	ENST00000250237.5	+	8	941	c.931G>A	c.(931-933)Ggc>Agc	p.G311S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	311					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GAAGGACTTCGGCCCCATAGA	0.647																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(931-933)Ggc>Agc		queuine tRNA-ribosyltransferase 1							106.0	94.0	98.0					19																	10823503		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823503G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.931G>A	19.37:g.10823503G>A	ENSP00000250237:p.Gly311Ser						p.G311S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		8	941	+			311					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.931G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	3.175	-0.169166	0.06461	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.0	-3.1	0.05315	.	0.360477	0.26069	N	0.026522	T	0.10165	0.0249	N	0.02751	-0.505	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.32798	-0.9893	9	0.09843	T	0.71	-14.8547	6.0443	0.19752	0.3455:0.4238:0.2307:0.0	.	311	Q9BXR0	TGT_HUMAN	S	311	.	ENSP00000250237:G311S	G	+	1	0	QTRT1	10684503	0.003000	0.15002	0.353000	0.25747	0.016000	0.09150	0.185000	0.16958	-0.212000	0.10109	-1.069000	0.02264	GGC		0.647	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		47	60	0	0	0	1	0	47	60				
SLC14A2	8170	broad.mit.edu	37	18	43221187	43221187	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43221187C>A	ENST00000255226.6	+	8	1821	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	SLC14A2_ENST00000586448.1_Silent_p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	335					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCAGTGGCCACACCCTTCG	0.577																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1003-1005)gcC>gcA		solute carrier family 14 (urea transporter), member 2							145.0	95.0	112.0					18																	43221187		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43221187C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1005C>A	18.37:g.43221187C>A						SLC14A2_ENST00000586448.1_Silent_p.A335A	p.A335A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			8	1821	+			335					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1005C>A	CCDS11924.1																																																																																				0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			15	22	1	0	8.60227e-14	1	9.36079e-14	15	22				
PRSS21	10942	broad.mit.edu	37	16	2870994	2870994	+	Missense_Mutation	SNP	G	G	A	rs544776420		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2870994G>A	ENST00000005995.3	+	5	631	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PRSS21_ENST00000450020.3_Missense_Mutation_p.A197T|PRSS21_ENST00000455114.1_Missense_Mutation_p.A195T|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	197	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						AGTTCAGGTCGCCATCATAAA	0.547																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(583-585)Gcc>Acc		protease, serine, 21 (testisin)							343.0	328.0	333.0					16																	2870994		2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2870994G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.589G>A	16.37:g.2870994G>A	ENSP00000005995:p.Ala197Thr					PRSS21_ENST00000005995.3_Missense_Mutation_p.A197T|PRSS21_ENST00000450020.3_Missense_Mutation_p.A197T|PRSS21_ENST00000575739.1_Intron	p.A195T	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	689	+			197			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.583G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	8.156	0.788382	0.16258	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.88124	-2.34;-2.34;-2.34	4.26	-0.389	0.12455	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.58821	0.2149	N	0.01209	-0.955	0.09310	N	1	B;B;B	0.33777	0.425;0.371;0.371	B;B;B	0.30855	0.121;0.05;0.05	T	0.57027	-0.7881	9	0.27082	T	0.32	.	0.6117	0.00763	0.2409:0.2472:0.3291:0.1828	.	197;195;197	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	T	195;197;197	ENSP00000400632:A195T;ENSP00000407741:A197T;ENSP00000005995:A197T	ENSP00000005995:A197T	A	+	1	0	PRSS21	2810995	0.000000	0.05858	0.010000	0.14722	0.284000	0.27059	-0.369000	0.07533	0.041000	0.15688	0.567000	0.79289	GCC		0.547	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		67	119	0	0	0	1	0	67	119				
MET	4233	broad.mit.edu	37	7	116395427	116395427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:116395427C>T	ENST00000318493.6	+	6	1907	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	MET_ENST00000436117.2_Missense_Mutation_p.P574S|MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.P574S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAATAGTGCACCCCTTGAAGG	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1720-1722)Ccc>Tcc		met proto-oncogene							84.0	78.0	80.0					7																	116395427		1799	4077	5876	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116395427C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1720C>T	7.37:g.116395427C>T	ENSP00000317272:p.Pro574Ser					MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.P574S|MET_ENST00000436117.2_Missense_Mutation_p.P574S	p.P574S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		6	1920	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	574			IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1720C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136667	0.56936	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.76060	-0.99;-0.99;-0.99	5.93	5.93	0.95920	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86748	0.6007	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.999;0.998;0.995	P;D;D;D;D;D;D;P	0.83275	0.85;0.996;0.979;0.989;0.986;0.989;0.939;0.874	D	0.87565	0.2474	10	0.72032	D	0.01	.	15.9036	0.79403	0.1357:0.8643:0.0:0.0	.	574;574;574;574;546;574;574;574	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	S	574	ENSP00000380860:P574S;ENSP00000317272:P574S;ENSP00000410980:P574S	ENSP00000317272:P574S	P	+	1	0	MET	116182663	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.763000	0.55257	2.826000	0.97356	0.655000	0.94253	CCC		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			34	37	0	0	0	1	0	34	37				
DHTKD1	55526	broad.mit.edu	37	10	12139743	12139743	+	Silent	SNP	G	G	A	rs370218003		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12139743G>A	ENST00000263035.4	+	8	1481	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	473					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACTCATGACGCAGGAGGAGG	0.488																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1417-1419)acG>acA		dehydrogenase E1 and transketolase domain containing 1		G		0,4406		0,0,2203	64.0	59.0	61.0		1419	0.0	1.0	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHTKD1	NM_018706.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		473/920	12139743	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12139743G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1419G>A	10.37:g.12139743G>A						DHTKD1_ENST00000465617.1_3'UTR	p.T473T	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		8	1481	+		Renal(717;0.228)	473					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.1419G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171759	0.06421	0.0	1.16E-4	ENSG00000181192	ENST00000448829	.	.	.	5.34	0.0383	0.14199	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	-13.2177	2.02	0.03506	0.32:0.2162:0.3239:0.1399	.	.	.	.	T	25	.	.	A	+	1	0	DHTKD1	12179749	0.033000	0.19621	0.992000	0.48379	0.374000	0.29953	-0.906000	0.04071	-0.264000	0.09365	-1.509000	0.00949	GCA		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		22	32	0	0	0	1	0	22	32				
MAU2	23383	broad.mit.edu	37	19	19454733	19454733	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19454733C>T	ENST00000392313.6	+	10	1240	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	MAU2_ENST00000262815.8_Missense_Mutation_p.A354V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	354					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCACAAGGCCACGGCGCTG	0.587																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1060-1062)gCc>gTc		MAU2 sister chromatid cohesion factor							71.0	72.0	71.0					19																	19454733		2108	4222	6330	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19454733C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1061C>T	19.37:g.19454733C>T	ENSP00000376127:p.Ala354Val					MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.A354V	p.A354V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			10	1107	+			354					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1061C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843900	0.71488	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	N	0.08118	0	0.80722	D	1	P	0.50528	0.936	P	0.48304	0.573	T	0.36696	-0.9737	9	0.27785	T	0.31	.	17.3016	0.87183	0.0:1.0:0.0:0.0	.	354	Q9Y6X3	SCC4_HUMAN	V	354	.	ENSP00000262815:A354V	A	+	2	0	MAU2	19315733	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.475000	0.81041	2.435000	0.82474	0.561000	0.74099	GCC		0.587	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		12	44	0	0	0	1	0	12	44				
PCED1B	91523	broad.mit.edu	37	12	47472244	47472244	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47472244G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Missense_Mutation_p.P181L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000266581.4_Missense_Mutation_p.P181L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										CAAATCCATCGGAAACTGTGT	0.398																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(541-543)cCg>cTg		adhesion molecule with Ig-like domain 2							70.0	70.0	70.0					12																	47472244		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472244G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472244G>A	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.P181L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P181L|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P181L	p.P181L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1008	-	Renal(347;0.138)|Lung SC(27;0.192)		181					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.542C>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627373	0.87560	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00829	-1.1549	10	0.72032	D	0.01	-14.5994	17.7901	0.88550	0.0:0.0:1.0:0.0	.	181	Q86SJ2	AMGO2_HUMAN	L	181	ENSP00000266581:P181L;ENSP00000449034:P181L;ENSP00000406020:P181L;ENSP00000320848:P181L	ENSP00000266581:P181L	P	-	2	0	AMIGO2	45758511	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	CCG		0.398	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		5	56	0	0	0	1	0	5	56				
TMEM61	199964	broad.mit.edu	37	1	55451849	55451849	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55451849C>T	ENST00000371268.3	+	2	369	c.95C>T	c.(94-96)aCg>aTg	p.T32M	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	32						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GTGGCCGGGACGCTCTGCTTC	0.662																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(94-96)aCg>aTg		transmembrane protein 61							51.0	52.0	51.0					1																	55451849		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55451849C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.95C>T	1.37:g.55451849C>T	ENSP00000360315:p.Thr32Met					RP11-12C17.2_ENST00000436960.1_RNA	p.T32M	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN			2	369	+			32						Missense_Mutation	SNP	ENST00000371268.3	37	c.95C>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175522	0.38413	.	.	ENSG00000143001	ENST00000371268	T	0.56444	0.46	4.8	2.93	0.34026	.	0.000000	0.53938	D	0.000045	T	0.42359	0.1199	L	0.29908	0.895	0.25716	N	0.985424	D	0.56035	0.974	P	0.45681	0.49	T	0.33240	-0.9876	10	0.87932	D	0	-5.8569	9.4181	0.38534	0.0:0.8328:0.0:0.1672	.	32	Q8N0U2	TMM61_HUMAN	M	32	ENSP00000360315:T32M	ENSP00000360315:T32M	T	+	2	0	TMEM61	55224437	0.957000	0.32711	0.447000	0.26932	0.156000	0.22039	2.052000	0.41316	0.627000	0.30340	0.655000	0.94253	ACG		0.662	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		17	24	0	0	0	1	0	17	24				
PIGK	10026	broad.mit.edu	37	1	77620137	77620137	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:77620137C>T	ENST00000370812.3	-	9	1006	c.983G>A	c.(982-984)aGc>aAc	p.S328N	PIGK_ENST00000478391.1_5'Flank|PIGK_ENST00000370813.5_Missense_Mutation_p.S252N|PIGK_ENST00000359130.1_Missense_Mutation_p.S328N|PIGK_ENST00000445065.1_Missense_Mutation_p.S234N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	328					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TGAATACCTGCTTTCCATGAT	0.313																																						ENST00000370812.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(982-984)aGc>aAc		phosphatidylinositol glycan anchor biosynthesis, class K							118.0	109.0	112.0					1																	77620137		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77620137C>T	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.983G>A	1.37:g.77620137C>T	ENSP00000359848:p.Ser328Asn					PIGK_ENST00000370813.5_Missense_Mutation_p.S252N|PIGK_ENST00000445065.1_Missense_Mutation_p.S234N|PIGK_ENST00000359130.1_Missense_Mutation_p.S328N	p.S328N	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN			9	1006	-			328					B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.983G>A	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	9.044	0.990415	0.18966	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.45276	0.9;0.9;0.9;0.93	4.95	0.19	0.15125	.	0.504141	0.23594	N	0.046516	T	0.09335	0.0230	N	0.24115	0.695	0.39489	D	0.968012	B;B;B;B	0.29590	0.029;0.064;0.25;0.013	B;B;B;B	0.19391	0.008;0.013;0.025;0.011	T	0.07501	-1.0769	10	0.45353	T	0.12	-26.2977	3.9008	0.09161	0.2471:0.3639:0.0:0.389	.	252;234;328;328	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	N	328;234;252;328	ENSP00000359848:S328N;ENSP00000388854:S234N;ENSP00000359849:S252N;ENSP00000352041:S328N	ENSP00000352041:S328N	S	-	2	0	PIGK	77392725	0.144000	0.22641	0.998000	0.56505	0.347000	0.29111	-0.129000	0.10515	0.172000	0.19760	-0.142000	0.14014	AGC		0.313	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		4	20	0	0	0	1	0	4	20				
RC3H2	54542	broad.mit.edu	37	9	125621135	125621135	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125621135C>T	ENST00000373670.1	-	11	2696	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	RC3H2_ENST00000357244.2_Missense_Mutation_p.R699H|RC3H2_ENST00000423239.2_Missense_Mutation_p.R699H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	699	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCGCCAGATGCGCCTGCTGTC	0.488																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2095-2097)cGc>cAc		ring finger and CCCH-type domains 2							136.0	137.0	136.0					9																	125621135		1945	4145	6090	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125621135C>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2096G>A	9.37:g.125621135C>T	ENSP00000362774:p.Arg699His					RC3H2_ENST00000357244.2_Missense_Mutation_p.R699H|RC3H2_ENST00000423239.2_Missense_Mutation_p.R699H	p.R699H			Q9HBD1	RC3H2_HUMAN			11	2696	-			699			Pro-rich.		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2096G>A	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603000	0.87157	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.55413	0.52;0.52;0.56	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.964;0.984	T	0.63888	-0.6535	10	0.54805	T	0.06	-24.0701	16.6978	0.85340	0.0:1.0:0.0:0.0	.	699;699	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	699;699;570;699	ENSP00000362774:R699H;ENSP00000349783:R699H;ENSP00000411767:R699H	ENSP00000349783:R699H	R	-	2	0	RC3H2	124660956	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.519000	0.73768	2.610000	0.88304	0.655000	0.94253	CGC		0.488	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		29	49	0	0	0	1	0	29	49				
KIAA1468	57614	broad.mit.edu	37	18	59898499	59898499	+	Silent	SNP	C	C	T	rs147870131		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59898499C>T	ENST00000398130.2	+	9	1753	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000256858.6_Silent_p.Y507Y	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	507										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTTTAGGATACGAGGTAAATT	0.338													c|||	1	0.000199681	0.0	0.0	5008	,	,		17029	0.0		0.0	False		,,,				2504	0.001					ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1519-1521)taC>taT		KIAA1468		T		0,4404		0,0,2202	117.0	109.0	111.0		1521	-0.1	1.0	18	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIAA1468	NM_020854.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		507/1217	59898499	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	57614						binding	g.chr18:59898499C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1521C>T	18.37:g.59898499C>T						KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Silent_p.Y507Y	p.Y507Y			Q9P260	K1468_HUMAN			9	1769	+		Colorectal(73;0.186)	507						Silent	SNP	ENST00000398130.2	37	c.1521C>T	CCDS11979.2																																																																																				0.338	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		6	64	0	0	0	1	0	6	64				
PTGER4	5734	broad.mit.edu	37	5	40681890	40681890	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40681890C>T	ENST00000302472.3	+	2	1819	c.795C>T	c.(793-795)ggC>ggT	p.G265G		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	265					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCATCGCGGGCGCCGAGATCC	0.706																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(793-795)ggC>ggT		prostaglandin E receptor 4 (subtype EP4)							20.0	23.0	22.0					5																	40681890		2111	4033	6144	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681890C>T	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.795C>T	5.37:g.40681890C>T							p.G265G	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1819	+			265					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.795C>T	CCDS3930.1																																																																																				0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		6	36	0	0	0	1	0	6	36				
NOTCH2	4853	broad.mit.edu	37	1	120464896	120464896	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120464896G>A	ENST00000256646.2	-	28	5395	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1726					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.R1726C(1)		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)		GGCTCACGACGCTTGTGATTG	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		1	Substitution - Missense(1)	p.R1726C(1)	kidney(1)	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						c.(5176-5178)Cgt>Tgt		notch 2							87.0	84.0	85.0					1																	120464896		2203	4300	6503	SO:0001583	missense	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.chr1:120464896G>A	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.5176C>T	1.37:g.120464896G>A	ENSP00000256646:p.Arg1726Cys						p.R1726C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	28	5395	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1726					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5176C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532466	0.85812	.	.	ENSG00000134250	ENST00000256646	D	0.85088	-1.94	5.44	5.44	0.79542	.	0.196730	0.25135	U	0.032879	D	0.91280	0.7251	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	P	0.57679	0.825	D	0.92348	0.5887	10	0.87932	D	0	.	18.6191	0.91315	0.0:0.0:1.0:0.0	.	1726	Q04721	NOTC2_HUMAN	C	1726	ENSP00000256646:R1726C	ENSP00000256646:R1726C	R	-	1	0	NOTCH2	120266419	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.356000	0.79445	2.715000	0.92844	0.655000	0.94253	CGT		0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	48	0	0	0	1	0	7	48				
LPHN1	22859	broad.mit.edu	37	19	14267883	14267883	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14267883G>A	ENST00000340736.6	-	16	3132	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G940G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	945					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGGTGCACGCCCTCCAGGC	0.617																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2833-2835)ggC>ggT		latrophilin 1							50.0	50.0	50.0					19																	14267883		2203	4299	6502	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267883G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2835C>T	19.37:g.14267883G>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G940G|CTB-55O6.12_ENST00000588387.1_RNA	p.G945G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3132	-			945					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2835C>T	CCDS32928.1																																																																																				0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		5	10	0	0	0	1	0	5	10				
XYLT2	64132	broad.mit.edu	37	17	48431803	48431803	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48431803C>T	ENST00000017003.2	+	3	712	c.663C>T	c.(661-663)agC>agT	p.S221S	XYLT2_ENST00000507602.1_Silent_p.S221S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	221					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGGATGAGAGCCAAGCCCAGC	0.662																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(661-663)agC>agT		xylosyltransferase II							33.0	35.0	35.0					17																	48431803		2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431803C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.663C>T	17.37:g.48431803C>T						XYLT2_ENST00000507602.1_Silent_p.S221S	p.S221S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	712	+	Breast(11;7.18e-19)		221					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.663C>T	CCDS11563.1																																																																																				0.662	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		4	11	0	0	0	1	0	4	11				
ORAI2	80228	broad.mit.edu	37	7	102087259	102087259	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102087259C>T	ENST00000356387.2	+	4	760	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.P175P|ORAI2_ENST00000403646.3_Silent_p.P175P|ORAI2_ENST00000478730.2_Silent_p.P175P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	175						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						AGTTCCTCCCCGTGGATGCCC	0.682																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(523-525)ccC>ccT		ORAI calcium release-activated calcium modulator 2							98.0	103.0	101.0					7																	102087259		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087259C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.525C>T	7.37:g.102087259C>T						ORAI2_ENST00000478730.1_Silent_p.P175P|ORAI2_ENST00000403646.3_Silent_p.P175P|ORAI2_ENST00000473939.1_Silent_p.P175P|ORAI2_ENST00000488996.1_3'UTR	p.P175P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	760	+			175					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.525C>T	CCDS5722.1																																																																																				0.682	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		12	59	0	0	0	1	0	12	59				
RUFY1	80230	broad.mit.edu	37	5	179034611	179034611	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179034611C>T	ENST00000319449.4	+	17	1946	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	RUFY1_ENST00000437570.2_Missense_Mutation_p.A537V|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000393438.2_Missense_Mutation_p.A537V|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	645					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGACGAAGCGACACACTGT	0.572										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1933-1935)gCg>gTg		RUN and FYVE domain containing 1							127.0	117.0	120.0					5																	179034611		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179034611C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1934C>T	5.37:g.179034611C>T	ENSP00000325594:p.Ala645Val	HNSCC(44;0.11)				RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.A537V|RUFY1_ENST00000393438.2_Missense_Mutation_p.A537V|RUFY1_ENST00000377001.2_3'UTR	p.A645V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1946	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	645					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.1934C>T	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	c	22.4	4.281191	0.80692	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.72051	-0.62;-0.62;-0.62	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	N	0.04373	-0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68569	-0.5374	10	0.17832	T	0.49	-13.9125	18.9777	0.92745	0.0:1.0:0.0:0.0	.	645	Q96T51	RUFY1_HUMAN	V	645;537;537;247	ENSP00000325594:A645V;ENSP00000390025:A537V;ENSP00000377087:A537V	ENSP00000325594:A645V	A	+	2	0	RUFY1	178967217	1.000000	0.71417	0.878000	0.34440	0.563000	0.35712	7.776000	0.85560	2.569000	0.86673	0.561000	0.74099	GCG		0.572	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		5	49	0	0	0	1	0	5	49				
PIH1D1	55011	broad.mit.edu	37	19	49950633	49950633	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49950633C>A	ENST00000262265.5	-	6	808	c.573G>T	c.(571-573)ggG>ggT	p.G191G	PIH1D1_ENST00000596049.1_Silent_p.G191G|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	191					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TGTACAGGTCCCCCAGCTCCT	0.627																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(571-573)ggG>ggT		PIH1 domain containing 1							64.0	68.0	67.0					19																	49950633		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49950633C>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.573G>T	19.37:g.49950633C>A						PIH1D1_ENST00000596049.1_Silent_p.G191G	p.G191G	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	6	808	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	191					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.573G>T	CCDS12765.1																																																																																				0.627	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		8	56	1	0	0.000274275	1	0.000279654	8	56				
ERICH1	157697	broad.mit.edu	37	8	642503	642503	+	Silent	SNP	G	G	A	rs375079153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:642503G>A	ENST00000262109.7	-	3	356	c.279C>T	c.(277-279)aaC>aaT	p.N93N	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	93										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CGCTGGAGGCGTTCTCGGGGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16496	0.0		0.0	False		,,,				2504	0.001					ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(277-279)aaC>aaT		glutamate-rich 1		G		0,4406		0,0,2203	64.0	69.0	67.0		279	-8.2	0.0	8		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERICH1	NM_207332.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/444	642503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:642503G>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.279C>T	8.37:g.642503G>A						ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	p.N93N	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	3	356	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	93					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.279C>T	CCDS5955.1																																																																																				0.582	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		20	37	0	0	0	1	0	20	37				
CHRDL2	25884	broad.mit.edu	37	11	74407619	74407619	+	Missense_Mutation	SNP	C	C	T	rs149731074		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74407619C>T	ENST00000376332.3	-	11	1721	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	CHRDL2_ENST00000263671.5_Missense_Mutation_p.R427H	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	409					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCTAGGAAGACGTTCCAGTGA	0.537																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(1225-1227)Gtc>Atc		chordin-like 2		C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	113.0	86.0	95.0		1280	1.9	1.0	11	dbSNP_134	95	0,8586		0,0,4293	no	missense	CHRDL2	NM_015424.3	29	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	benign	427/452	74407619	1,12985	2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74407619C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1225G>A	11.37:g.74407619C>T	ENSP00000365510:p.Val409Ile					CHRDL2_ENST00000263671.5_Missense_Mutation_p.R427H	p.V409I	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			11	1721	-	Hepatocellular(1;0.098)		409					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.1225G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.470508|1.470508	0.26423|0.26423	2.27E-4|2.27E-4	0.0|0.0	ENSG00000054938|ENSG00000054938	ENST00000525413;ENST00000263671|ENST00000529912;ENST00000376332;ENST00000376323;ENST00000393519	T|T	0.45276|0.39056	0.9|1.1	4.89|4.89	1.87|1.87	0.25490|0.25490	.|.	1.719190|.	0.02983|.	N|.	0.145835|.	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.08118|0.08118	0|0	0.22996|0.22996	N|N	0.998454|0.998454	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.30995|0.30995	-0.9959|-0.9959	10|9	0.27082|0.02654	T|T	0.32|1	-1.7121|-1.7121	5.7738|5.7738	0.18267|0.18267	0.0:0.6388:0.0:0.3612|0.0:0.6388:0.0:0.3612	.|.	427|409	Q6WN34-2|Q6WN34	.|CRDL2_HUMAN	H|I	175;427|67;409;261;259	ENSP00000263671:R427H|ENSP00000365510:V409I	ENSP00000263671:R427H|ENSP00000365501:V261I	R|V	-|-	2|1	0|0	CHRDL2|CHRDL2	74085267|74085267	0.990000|0.990000	0.36364|0.36364	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	0.226000|0.226000	0.17776|0.17776	0.421000|0.421000	0.25980|0.25980	0.407000|0.407000	0.27541|0.27541	CGT|GTC		0.537	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			13	20	0	0	0	1	0	13	20				
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43693986C>T	ENST00000260383.7	+	15	1926	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.R557*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1669-1671)Cga>Tga		tubulin, gamma complex associated protein 4							135.0	127.0	129.0					15																	43693986		1907	4130	6037	SO:0001587	stop_gained	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43693986C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1672C>T	15.37:g.43693986C>T	ENSP00000260383:p.Arg558*					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*	p.R557*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	15	1909	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	558					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.1669C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.353226	0.99145	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.87	5.87	0.94306	.	0.126603	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.9544	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000260383:R557X	R	+	1	2	TUBGCP4	41481278	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.945000	0.56637	2.941000	0.99782	0.655000	0.94253	CGA		0.423	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		40	54	0	0	0	1	0	40	54				
KIAA0753	9851	broad.mit.edu	37	17	6531530	6531530	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6531530T>G	ENST00000361413.3	-	3	983	c.625A>C	c.(625-627)Aac>Cac	p.N209H	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	209						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCACTTATGTTTTTGTGGTCA	0.458																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(625-627)Aac>Cac		KIAA0753							123.0	117.0	119.0					17																	6531530		1952	4138	6090	SO:0001583	missense	9851					centrosome		g.chr17:6531530T>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.625A>C	17.37:g.6531530T>G	ENSP00000355250:p.Asn209His					KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	p.N209H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	3	983	-			209					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.625A>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046864	0.19748	.	.	ENSG00000198920	ENST00000361413	T	0.09538	2.97	5.34	3.08	0.35506	.	0.858430	0.10678	N	0.646702	T	0.11537	0.0281	L	0.36672	1.1	0.18873	N	0.999987	P	0.36315	0.547	B	0.41036	0.346	T	0.26849	-1.0091	10	0.54805	T	0.06	-0.7018	7.428	0.27111	0.0:0.1892:0.0:0.8108	.	209	Q2KHM9	K0753_HUMAN	H	209	ENSP00000355250:N209H	ENSP00000355250:N209H	N	-	1	0	KIAA0753	6472254	0.109000	0.22037	0.039000	0.18376	0.215000	0.24574	0.644000	0.24766	0.970000	0.38263	0.533000	0.62120	AAC		0.458	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		18	46	0	0	0	1	0	18	46				
ZNF816	125893	broad.mit.edu	37	19	53453281	53453281	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53453281G>A	ENST00000357666.4	-	5	2047	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H583Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTCTCTGATGTTGTGCAAGG	0.373																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1747-1749)Cat>Tat		zinc finger protein 816							78.0	79.0	78.0					19																	53453281		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453281G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1747C>T	19.37:g.53453281G>A	ENSP00000350295:p.His583Tyr					ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H583Y|ZNF321P_ENST00000391777.3_Intron	p.H583Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	2047	-			583					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1747C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	18.96	3.734052	0.69189	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	D;D	0.86769	-2.17;-2.17	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93890	0.8045	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93779	0.7082	9	0.87932	D	0	.	10.5237	0.44934	0.0:0.0:1.0:0.0	.	583	Q0VGE8	ZN816_HUMAN	Y	583	ENSP00000350295:H583Y;ENSP00000403266:H583Y	ENSP00000350295:H583Y	H	-	1	0	ZNF816	58145093	1.000000	0.71417	0.004000	0.12327	0.605000	0.37080	5.739000	0.68622	0.965000	0.38133	0.205000	0.17691	CAT		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		34	46	0	0	0	1	0	34	46				
FAM222B	55731	broad.mit.edu	37	17	27086248	27086248	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27086248G>A	ENST00000341217.5	-	3	944	c.729C>T	c.(727-729)acC>acT	p.T243T	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.T243T|FAM222B_ENST00000452648.3_Silent_p.T243T	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	243																	AGGTAGACACGGTCACATTCG	0.607																																						ENST00000341217.5																			0											c.(727-729)acC>acT		family with sequence similarity 222, member B							25.0	27.0	27.0					17																	27086248		2132	4232	6364	SO:0001819	synonymous_variant	55731							g.chr17:27086248G>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.729C>T	17.37:g.27086248G>A						FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.T243T|FAM222B_ENST00000452648.3_Silent_p.T243T	p.T243T	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	944	-			243					Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	c.729C>T	CCDS45637.1																																																																																				0.607	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		3	9	0	0	0	1	0	3	9				
SLCO3A1	28232	broad.mit.edu	37	15	92459273	92459273	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:92459273C>T	ENST00000318445.6	+	2	445	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SLCO3A1_ENST00000424469.2_Silent_p.D77D	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	77					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AGAGCGCTGACGTGGGTGTGA	0.627																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(229-231)gaC>gaT		solute carrier organic anion transporter family, member 3A1							94.0	82.0	86.0					15																	92459273		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459273C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.231C>T	15.37:g.92459273C>T						SLCO3A1_ENST00000424469.2_Silent_p.D77D	p.D77D	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	445	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		77					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.231C>T	CCDS10371.1																																																																																				0.627	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		27	52	0	0	0	1	0	27	52				
FZD6	8323	broad.mit.edu	37	8	104336880	104336880	+	Silent	SNP	G	G	A	rs138437813		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104336880G>A	ENST00000358755.4	+	4	863	c.546G>A	c.(544-546)gcG>gcA	p.A182A	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.A150A|FZD6_ENST00000522566.1_Silent_p.A182A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	182					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACCAGTGTGCGCCTCCATGCC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16236	0.0		0.001	False		,,,				2504	0.0					ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(544-546)gcG>gcA		frizzled family receptor 6							85.0	96.0	92.0					8																	104336880		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104336880G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.546G>A	8.37:g.104336880G>A						FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.A150A|FZD6_ENST00000522566.1_Silent_p.A182A	p.A182A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	863	+			182					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.546G>A	CCDS6298.1																																																																																				0.393	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	61	0	0	0	1	0	5	61				
KRT28	162605	broad.mit.edu	37	17	38950185	38950185	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38950185G>A	ENST00000306658.7	-	6	1157	c.1092C>T	c.(1090-1092)acC>acT	p.T364T		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCTCGGTCTCGGTTCTGACCT	0.562																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1090-1092)acC>acT		keratin 28							144.0	143.0	143.0					17																	38950185		2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38950185G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1092C>T	17.37:g.38950185G>A							p.T364T	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			6	1157	-		Breast(137;0.000301)	364			Coil 2.|Rod.			Silent	SNP	ENST00000306658.7	37	c.1092C>T	CCDS11376.1																																																																																				0.562	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		9	139	0	0	0	1	0	9	139				
ASPSCR1	79058	broad.mit.edu	37	17	79941442	79941442	+	Silent	SNP	C	C	T	rs202095235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79941442C>T	ENST00000306739.4	+	3	268	c.171C>T	c.(169-171)agC>agT	p.S57S	ASPSCR1_ENST00000306729.7_Silent_p.S57S|ASPSCR1_ENST00000581647.1_Silent_p.S57S|ASPSCR1_ENST00000580534.1_5'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	57					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCAGAGGAGCGTGCTCGACC	0.622			T	TFE3	alveolar soft part sarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		12751	0.0		0.001	False		,,,				2504	0.0					ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(169-171)agC>agT		alveolar soft part sarcoma chromosome region, candidate 1							98.0	79.0	85.0					17																	79941442		2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79941442C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.171C>T	17.37:g.79941442C>T						ASPSCR1_ENST00000306739.4_Silent_p.S57S|ASPSCR1_ENST00000581647.1_Silent_p.S57S|ASPSCR1_ENST00000580534.1_5'UTR	p.S57S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	268	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		57					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.171C>T	CCDS11796.1																																																																																				0.622	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		7	14	0	0	0	1	0	7	14				
KAT6A	7994	broad.mit.edu	37	8	41795087	41795087	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41795087C>A	ENST00000396930.3	-	17	3583		c.e17-1		KAT6A_ENST00000406337.1_Splice_Site|KAT6A_ENST00000265713.2_Splice_Site	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A						aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAAATGGTTTCTGTTTAATAG	0.343																																						ENST00000396930.3																			0											c.e17-1		K(lysine) acetyltransferase 6A							68.0	60.0	63.0					8																	41795087		2203	4300	6503	SO:0001630	splice_region_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41795087C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3040-1G>T	8.37:g.41795087C>A						KAT6A_ENST00000265713.2_Splice_Site|KAT6A_ENST00000406337.1_Splice_Site		NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			17	3583	-								Q76L81	Splice_Site	SNP	ENST00000396930.3	37		CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972761	0.74246	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KAT6A	41914244	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.876000	0.63079	2.764000	0.94973	0.650000	0.86243	.		0.343	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	Intron	17	29	1	0	3.51602e-12	1	3.7986e-12	17	29				
FBXO32	114907	broad.mit.edu	37	8	124547022	124547022	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124547022T>G	ENST00000517956.1	-	2	340	c.149A>C	c.(148-150)aAt>aCt	p.N50T	FBXO32_ENST00000443022.2_Missense_Mutation_p.N50T	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	50					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGAAAAGATTCTCCTTATT	0.378																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(148-150)aAt>aCt		F-box protein 32							203.0	185.0	191.0					8																	124547022		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124547022T>G	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.149A>C	8.37:g.124547022T>G	ENSP00000428205:p.Asn50Thr					FBXO32_ENST00000443022.2_Missense_Mutation_p.N50T	p.N50T	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	340	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		50					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.149A>C	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881183	0.51801	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.14640	2.49;2.49	5.64	4.47	0.54385	.	0.136053	0.64402	D	0.000004	T	0.17619	0.0423	M	0.64997	1.995	0.27515	N	0.951566	P;B	0.46512	0.879;0.001	B;B	0.42916	0.402;0.005	T	0.05801	-1.0863	10	0.37606	T	0.19	-13.0432	12.3533	0.55161	0.1265:0.0:0.0:0.8734	.	50;50	A4KYM0;Q969P5	.;FBX32_HUMAN	T	50	ENSP00000428205:N50T;ENSP00000390790:N50T	ENSP00000390790:N50T	N	-	2	0	FBXO32	124616203	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.127000	0.77210	1.052000	0.40392	0.528000	0.53228	AAT		0.378	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			29	38	0	0	0	1	0	29	38				
FRAS1	80144	broad.mit.edu	37	4	79434602	79434602	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:79434602C>A	ENST00000264895.6	+	65	10510	c.10070C>A	c.(10069-10071)aCc>aAc	p.T3357N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3353					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTATCTCCACCATGCCGTTG	0.468																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10069-10071)aCc>aAc		Fraser syndrome 1							175.0	170.0	172.0					4																	79434602		2020	4186	6206	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434602C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10070C>A	4.37:g.79434602C>A	ENSP00000264895:p.Thr3357Asn						p.T3357N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			65	10510	+			3352					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10070C>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.142634|5.142634	0.94560|0.94560	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.23147	.|1.92	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57975|0.57975	0.2090|0.2090	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.62101|0.62101	-0.6925|-0.6925	5|10	.|0.87932	.|D	.|0	.|.	19.8365|19.8365	0.96659|0.96659	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3357	.|E9PHH6	.|.	Q|N	1585|3357	.|ENSP00000264895:T3357N	.|ENSP00000264895:T3357N	H|T	+|+	3|2	2|0	FRAS1|FRAS1	79653626|79653626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.673000|7.673000	0.83973|0.83973	2.694000|2.694000	0.91930|0.91930	0.467000|0.467000	0.42956|0.42956	CAC|ACC		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	78	1	0	5.18039e-06	1	5.37127e-06	7	78				
NAV2	89797	broad.mit.edu	37	11	19901631	19901631	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19901631C>T	ENST00000396087.3	+	5	827	c.728C>T	c.(727-729)gCg>gTg	p.A243V	NAV2_ENST00000396085.1_Missense_Mutation_p.A243V|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	243	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCAGCCAGCGCCACATCAG	0.632																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(727-729)gCg>gTg		neuron navigator 2							34.0	32.0	33.0					11																	19901631		2198	4293	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19901631C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.728C>T	11.37:g.19901631C>T	ENSP00000379396:p.Ala243Val					NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V|NAV2_ENST00000396087.3_Missense_Mutation_p.A243V|NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V	p.A243V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	1089	+			243			Gln-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.728C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.62;1.72;1.72;1.68;1.58;1.58	5.73	4.81	0.61882	.	0.230271	0.30437	N	0.009621	T	0.18215	0.0437	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.001;0.004	T	0.04840	-1.0923	9	.	.	.	.	14.8486	0.70277	0.0:0.9293:0.0:0.0707	.	243;179	Q8IVL1-3;Q8IVL1-4	.;.	V	179;243;243;243;172;174	ENSP00000353871:A179V;ENSP00000379394:A243V;ENSP00000309577:A243V;ENSP00000379396:A243V;ENSP00000435395:A172V;ENSP00000443489:A174V	.	A	+	2	0	NAV2	19858207	0.804000	0.28969	0.989000	0.46669	0.906000	0.53458	1.543000	0.36147	1.398000	0.46701	0.561000	0.74099	GCG		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		6	7	0	0	0	1	0	6	7				
F13A1	2162	broad.mit.edu	37	6	6305756	6305756	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6305756C>T	ENST00000264870.3	-	3	412	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	49					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTGAACGCTCGTGACATTAA	0.383																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(145-147)acG>acA		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						152.0	128.0	136.0					6																	6305756		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305756C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.147G>A	6.37:g.6305756C>T							p.T49T	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			3	412	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	49					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.147G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.163480	0.01673	.	.	ENSG00000124491	ENST00000451619	.	.	.	5.48	-6.2	0.02072	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.25235	N	0.989799	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	11.3711	0.49699	0.0:0.1706:0.1021:0.7272	.	.	.	.	Q	74	.	.	R	-	2	0	F13A1	6250755	0.000000	0.05858	0.002000	0.10522	0.107000	0.19398	-1.178000	0.03093	-1.108000	0.03000	-0.225000	0.12378	CGA		0.383	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	34	0	0	0	1	0	20	34				
IPO11	51194	broad.mit.edu	37	5	61802186	61802186	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:61802186T>C	ENST00000325324.6	+	19	1951		c.e19+2		KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AACATGCAGGTAATTATATTG	0.328																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e19+2		importin 11							63.0	62.0	62.0					5																	61802186		2203	4300	6503	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61802186T>C	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1782+2T>C	5.37:g.61802186T>C						IPO11_ENST00000409296.3_Splice_Site|KIF2A_ENST00000509663.2_Intron		NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	19	1951	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294425	0.81025	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0318	0.71713	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61837943	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.093000	0.76937	2.082000	0.62665	0.533000	0.62120	.		0.328	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	37	27	0	0	0	1	0	37	27				
DHX8	1659	broad.mit.edu	37	17	41598905	41598905	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41598905C>T	ENST00000262415.3	+	21	3307	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	DHX8_ENST00000540306.1_Missense_Mutation_p.R1079C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1079					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGGACATTCGCAAGCAGAT	0.483																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3235-3237)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							120.0	102.0	108.0					17																	41598905		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41598905C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3235C>T	17.37:g.41598905C>T	ENSP00000262415:p.Arg1079Cys					DHX8_ENST00000540306.1_Missense_Mutation_p.R1079C	p.R1079C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	21	3307	+		Breast(137;0.00908)	1079						Missense_Mutation	SNP	ENST00000262415.3	37	c.3235C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795428	0.90453	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03212	4.01;4.01	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	H	0.99143	4.445	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61940	0.85;0.896	T	0.61955	-0.6956	10	0.87932	D	0	.	17.2943	0.87166	0.0:1.0:0.0:0.0	.	1079;1079	F5H658;Q14562	.;DHX8_HUMAN	C	1079	ENSP00000437886:R1079C;ENSP00000262415:R1079C	ENSP00000262415:R1079C	R	+	1	0	DHX8	38954431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.810000	0.69179	2.545000	0.85829	0.655000	0.94253	CGC		0.483	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			23	46	0	0	0	1	0	23	46				
AVPR1A	552	broad.mit.edu	37	12	63544055	63544055	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:63544055C>T	ENST00000299178.2	-	1	667	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	188					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ATGGAGAAGACGAAGTACTGC	0.642																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(562-564)Gtc>Atc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						56.0	57.0	57.0					12																	63544055		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544055C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.562G>A	12.37:g.63544055C>T	ENSP00000299178:p.Val188Ile						p.V188I	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	667	-			188						Missense_Mutation	SNP	ENST00000299178.2	37	c.562G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.175918	0.09443	.	.	ENSG00000166148	ENST00000299178	T	0.72051	-0.62	5.19	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.158757	0.53938	N	0.000043	T	0.32406	0.0828	N	0.00783	-1.19	0.31968	N	0.607523	B	0.09022	0.002	B	0.06405	0.002	T	0.28427	-1.0044	9	.	.	.	-21.216	7.3175	0.26509	0.0:0.3368:0.0:0.6632	.	188	P37288	V1AR_HUMAN	I	188	ENSP00000299178:V188I	.	V	-	1	0	AVPR1A	61830322	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	1.735000	0.38176	0.245000	0.21373	0.455000	0.32223	GTC		0.642	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			7	69	0	0	0	1	0	7	69				
PCDHA13	56136	broad.mit.edu	37	5	140263357	140263357	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140263357C>T	ENST00000289272.2	+	1	1504	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R502C|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	502	Cadherin 5. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGTGCGCTGTC	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1504-1506)Cgt>Tgt									59.0	59.0	59.0					5																	140263357		2203	4299	6502	SO:0001583	missense	0							g.chr5:140263357C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1504C>T	5.37:g.140263357C>T	ENSP00000289272:p.Arg502Cys					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R502C|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R502C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1504	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1504C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850756	0.32699	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61274	0.12;0.12	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73497	0.3594	M	0.69523	2.12	0.21416	N	0.999693	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.964;0.959	T	0.63589	-0.6603	9	0.54805	T	0.06	.	12.4203	0.55516	0.1681:0.8319:0.0:0.0	.	502;502;502	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	C	502	ENSP00000386821:R502C;ENSP00000289272:R502C	ENSP00000289272:R502C	R	+	1	0	PCDHA13	140243541	0.997000	0.39634	0.987000	0.45799	0.538000	0.34931	1.852000	0.39348	2.386000	0.81285	0.556000	0.70494	CGT		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		34	37	0	0	0	1	0	34	37				
KRT3	3850	broad.mit.edu	37	12	53185103	53185103	+	Silent	SNP	C	C	T	rs368969102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53185103C>T	ENST00000417996.2	-	7	1496	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	KRT3_ENST00000309505.3_Silent_p.A474A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGTCATCCTTCGCCTGCTGTA	0.617																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1420-1422)gcG>gcA		keratin 3		T		0,4406		0,0,2203	88.0	85.0	86.0		1422	0.8	1.0	12		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT3	NM_057088.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		474/629	53185103	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185103C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1422G>A	12.37:g.53185103C>T						KRT3_ENST00000309505.3_Silent_p.A474A	p.A474A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1496	-			474			Coil 2.|Rod.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.1422G>A	CCDS44895.1																																																																																				0.617	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		42	76	0	0	0	1	0	42	76				
ZNF224	7767	broad.mit.edu	37	19	44610888	44610888	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44610888G>A	ENST00000336976.6	+	6	829	c.575G>A	c.(574-576)cGt>cAt	p.R192H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	192					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCAGCCCTTCGTATTCATCAG	0.418																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(574-576)cGt>cAt		zinc finger protein 224							132.0	132.0	132.0					19																	44610888		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44610888G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.575G>A	19.37:g.44610888G>A	ENSP00000337368:p.Arg192His					AC084219.4_ENST00000592946.1_RNA	p.R192H	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	829	+		Prostate(69;0.0435)	192					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.575G>A	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.285245	0.23478	.	.	ENSG00000186019	ENST00000336976	T	0.22539	1.95	1.85	-3.7	0.04437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	L	0.35249	1.045	0.09310	N	1	B	0.24651	0.108	B	0.16722	0.016	T	0.27123	-1.0083	9	0.32370	T	0.25	.	3.6022	0.08028	0.235:0.0:0.3141:0.4509	.	192	Q9NZL3	ZN224_HUMAN	H	192	ENSP00000337368:R192H	ENSP00000337368:R192H	R	+	2	0	ZNF224	49302728	0.000000	0.05858	0.000000	0.03702	0.665000	0.39181	-8.471000	0.00020	-0.968000	0.03578	-0.293000	0.09583	CGT		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		73	91	0	0	0	1	0	73	91				
ATHL1	80162	broad.mit.edu	37	11	294384	294384	+	Silent	SNP	C	C	T	rs141863244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:294384C>T	ENST00000409548.2	+	13	2041	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	ATHL1_ENST00000409479.1_Silent_p.S669S|ATHL1_ENST00000409655.1_Silent_p.S394S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	642					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGGACTCCGTGACCGTGG	0.602																																						ENST00000409548.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17						c.(1924-1926)tcC>tcT		ATH1, acid trehalase-like 1 (yeast)		C		1,4405	2.1+/-5.4	0,1,2202	78.0	86.0	83.0		1926	-8.4	0.0	11	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATHL1	NM_025092.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		642/738	294384	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:294384C>T	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1926C>T	11.37:g.294384C>T						ATHL1_ENST00000409655.1_Silent_p.S394S|ATHL1_ENST00000409479.1_Silent_p.S669S	p.S642S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	13	2041	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	642					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.1926C>T	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	C	4.482	0.089413	0.08632	2.27E-4	1.16E-4	ENSG00000142102	ENST00000397660	.	.	.	4.22	-8.45	0.00946	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.08953	-1.0697	4	.	.	.	.	3.8519	0.08959	0.1419:0.0938:0.2896:0.4747	.	.	.	.	C	103	.	.	R	+	1	0	ATHL1	284384	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-4.815000	0.00182	-3.403000	0.00170	-0.368000	0.07277	CGT		0.602	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		7	70	0	0	0	1	0	7	70				
NMI	9111	broad.mit.edu	37	2	152132079	152132079	+	Nonsense_Mutation	SNP	G	G	A	rs367707415		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152132079G>A	ENST00000243346.5	-	6	1023	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	185					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTCCATTTCGGGACTTTGAA	0.453																																						ENST00000243346.5																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(553-555)Cga>Tga		N-myc (and STAT) interactor		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		553	3.5	0.1	2		95	0,8600		0,0,4300	no	stop-gained	NMI	NM_004688.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		185/308	152132079	1,13005	2203	4300	6503	SO:0001587	stop_gained	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152132079G>A	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.553C>T	2.37:g.152132079G>A	ENSP00000243346:p.Arg185*						p.R185*	NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	6	1023	-			185					B5BU69|Q53TI8|Q9BVE5	Nonsense_Mutation	SNP	ENST00000243346.5	37	c.553C>T	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436255	0.96168	2.27E-4	0.0	ENSG00000123609	ENST00000243346	.	.	.	5.33	3.48	0.39840	.	0.559079	0.21159	N	0.079185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0676	6.5568	0.22464	0.0926:0.0:0.7223:0.1851	.	.	.	.	X	185	.	ENSP00000243346:R185X	R	-	1	2	NMI	151840325	0.413000	0.25400	0.084000	0.20598	0.058000	0.15608	0.701000	0.25616	0.703000	0.31848	0.591000	0.81541	CGA		0.453	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		25	26	0	0	0	1	0	25	26				
APMAP	57136	broad.mit.edu	37	20	24959425	24959425	+	Silent	SNP	C	C	T	rs144418356		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:24959425C>T	ENST00000217456.2	-	3	596	c.306G>A	c.(304-306)ccG>ccA	p.P102P	APMAP_ENST00000447138.1_Silent_p.P102P	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	102					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CTATGGACTCCGGTCCAACAA	0.542																																						ENST00000217456.2																			0											c.(304-306)ccG>ccA		adipocyte plasma membrane associated protein		C		0,4406		0,0,2203	73.0	75.0	74.0		306	-1.7	1.0	20	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C20orf3	NM_020531.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/417	24959425	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57136							g.chr20:24959425C>T	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.306G>A	20.37:g.24959425C>T						APMAP_ENST00000447138.1_Silent_p.P102P	p.P102P	NM_020531.2	NP_065392.1					3	596	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	c.306G>A	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107160	0.20714	0.0	1.16E-4	ENSG00000101474	ENST00000451442	.	.	.	5.08	-1.67	0.08238	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41716	-0.9493	4	.	.	.	-13.2427	6.0147	0.19596	0.0:0.3651:0.1367:0.4982	.	.	.	.	Q	87	.	.	R	-	2	0	C20orf3	24907425	0.700000	0.27796	0.996000	0.52242	0.908000	0.53690	-0.251000	0.08818	-0.188000	0.10499	-0.305000	0.09177	CGG		0.542	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		24	47	0	0	0	1	0	24	47				
MAP7D1	55700	broad.mit.edu	37	1	36639029	36639029	+	Missense_Mutation	SNP	G	G	A	rs148371637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36639029G>A	ENST00000373151.2	+	5	905	c.689G>A	c.(688-690)cGc>cAc	p.R230H	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R230H|MAP7D1_ENST00000316156.4_Missense_Mutation_p.R230H	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	230					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGCAGCGCTGGTCCTGG	0.627																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(688-690)cGc>cAc		MAP7 domain containing 1		G	HIS/ARG	0,4406		0,0,2203	71.0	70.0	70.0		689	5.2	1.0	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	missense	MAP7D1	NM_018067.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	230/842	36639029	2,13004	2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36639029G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.689G>A	1.37:g.36639029G>A	ENSP00000362244:p.Arg230His					MAP7D1_ENST00000373150.4_Missense_Mutation_p.R230H|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R230H	p.R230H			Q3KQU3	MA7D1_HUMAN			5	1142	+		Myeloproliferative disorder(586;0.0393)	230					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.689G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	36	5.736378	0.96865	0.0	2.33E-4	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.22	5.22	0.72569	.	0.000000	0.42420	D	0.000702	T	0.41719	0.1171	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.974;0.989;0.994	T	0.36986	-0.9725	10	0.87932	D	0	-14.6252	17.7316	0.88379	0.0:0.0:1.0:0.0	.	230;230;230	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	H	191;230;230;230	ENSP00000390091:R191H;ENSP00000320228:R230H;ENSP00000362243:R230H;ENSP00000362244:R230H	ENSP00000320228:R230H	R	+	2	0	MAP7D1	36411616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.201000	0.95017	2.620000	0.88729	0.655000	0.94253	CGC		0.627	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		33	50	0	0	0	1	0	33	50				
TCTE1	202500	broad.mit.edu	37	6	44250230	44250230	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44250230C>T	ENST00000371505.4	-	4	1035	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	305										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGGGTGGTCCAGAAGGCTT	0.572																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(913-915)Gac>Aac		t-complex-associated-testis-expressed 1							112.0	101.0	105.0					6																	44250230		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250230C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.913G>A	6.37:g.44250230C>T	ENSP00000360560:p.Asp305Asn					TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	p.D305N	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1035	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		305					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.913G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308207	0.40895	.	.	ENSG00000146221	ENST00000371505	T	0.50548	0.74	5.37	5.37	0.77165	.	0.045565	0.85682	D	0.000000	T	0.30510	0.0767	M	0.63428	1.95	0.80722	D	1	P	0.47106	0.89	B	0.41332	0.354	T	0.10382	-1.0632	10	0.29301	T	0.29	-62.0321	9.9901	0.41865	0.0:0.7876:0.139:0.0735	.	305	Q5JU00	TCTE1_HUMAN	N	305	ENSP00000360560:D305N	ENSP00000360560:D305N	D	-	1	0	TCTE1	44358208	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.972000	0.40540	2.695000	0.91970	0.455000	0.32223	GAC		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	51	0	0	0	1	0	7	51				
CORO7	79585	broad.mit.edu	37	16	4407211	4407211	+	Silent	SNP	C	C	T	rs148065861		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4407211C>T	ENST00000251166.4	-	26	2788	c.2643G>A	c.(2641-2643)gcG>gcA	p.A881A	CORO7-PAM16_ENST00000572467.1_Silent_p.A881A|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.A863A|PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000574025.1_Silent_p.A796A|CORO7_ENST00000539968.1_Silent_p.A661A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	881					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGTACTGCGCTGAGGATG	0.612																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2641-2643)gcG>gcA		coronin 7		C	,,,	1,4393	2.1+/-5.4	0,1,2196	75.0	57.0	63.0		2589,2388,2643,2643	-10.5	0.0	16	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CORO7,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4	,,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,,	863/908,796/841,881/1049,881/926	4407211	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	79585							g.chr16:4407211C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2643G>A	16.37:g.4407211C>T						CORO7_ENST00000574025.1_Silent_p.A796A|CORO7_ENST00000539968.1_Silent_p.A661A|CORO7_ENST00000537233.2_Silent_p.A863A|CORO7-PAM16_ENST00000572467.1_Silent_p.A881A|CORO7-PAM16_ENST00000572274.1_5'UTR	p.A881A	NM_024535.4	NP_078811.3					26	2788	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2643G>A	CCDS10513.1																																																																																				0.612	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		9	21	0	0	0	1	0	9	21				
DHX57	90957	broad.mit.edu	37	2	39050311	39050311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39050311G>A	ENST00000295373.6	-	17	3241	c.3115C>T	c.(3115-3117)Cga>Tga	p.R1039*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1039							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCTCGTAATCGTATTTTTGAG	0.423																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3115-3117)Cga>Tga		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							97.0	95.0	96.0					2																	39050311		2203	4300	6503	SO:0001587	stop_gained	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39050311G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3115C>T	2.37:g.39050311G>A	ENSP00000295373:p.Arg1039*						p.R1039*	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			17	3241	-		all_hematologic(82;0.248)	1039					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	c.3115C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.905935|6.905935	0.97924|0.97924	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.44483|.	D|.	0.000447|.	.|T	.|0.80053	.|0.4553	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77835	.|-0.2440	.|3	0.14252|.	T|.	0.57|.	.|.	19.9759|19.9759	0.97304|0.97304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	1039|362	.|.	ENSP00000295373:R1039X|.	R|T	-|-	1|2	2|0	DHX57|DHX57	38903815|38903815	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	9.731000|9.731000	0.98807|0.98807	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.423	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		16	30	0	0	0	1	0	16	30				
CALCA	796	broad.mit.edu	37	11	14989365	14989365	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14989365G>A	ENST00000486207.1	-	3	271	c.263C>T	c.(262-264)aCc>aTc	p.T88I	CALCA_ENST00000361010.3_Missense_Mutation_p.T88I|CALCB_ENST00000523376.1_Intron			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	88					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						AGTCACACAGGTGGCAGTGTC	0.542																																						ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(262-264)aCc>aTc		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						77.0	75.0	75.0					11																	14989365		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14989365G>A	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.263C>T	11.37:g.14989365G>A	ENSP00000417833:p.Thr88Ile					CALCA_ENST00000486207.1_Missense_Mutation_p.T88I|CALCB_ENST00000523376.1_Intron	p.T88I	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			4	337	-			88					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.263C>T	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172157	0.78452	.	.	ENSG00000110680	ENST00000486207;ENST00000361010	T;T	0.48836	0.8;0.8	4.69	3.77	0.43336	Calcitonin peptide-like (1);Calcitonin, conserved site (1);	.	.	.	.	T	0.71796	0.3382	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.79313	-0.1855	9	0.66056	D	0.02	.	15.9365	0.79712	0.0:0.1359:0.8641:0.0	.	88	P06881	CALCA_HUMAN	I	88	ENSP00000417833:T88I;ENSP00000354286:T88I	ENSP00000354286:T88I	T	-	2	0	CALCA	14945941	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	6.079000	0.71291	1.575000	0.49775	0.655000	0.94253	ACC		0.542	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		3	47	0	0	0	1	0	3	47				
TCF7	6932	broad.mit.edu	37	5	133451600	133451600	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:133451600G>A	ENST00000321584.4	+	3	513	c.317G>A	c.(316-318)gGc>gAc	p.G106D	TCF7_ENST00000520958.1_5'UTR|TCF7_ENST00000321603.6_Splice_Site_p.G106D|TCF7_ENST00000378560.4_5'UTR|TCF7_ENST00000432532.2_5'UTR|TCF7_ENST00000395029.1_Splice_Site_p.G106D|TCF7_ENST00000342854.5_Splice_Site_p.G106D|TCF7_ENST00000395023.1_5'UTR|TCF7_ENST00000518915.1_5'UTR|TCF7_ENST00000378564.1_Splice_Site_p.G106D			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	106					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTTTCCAGGCCTGAAGGCC	0.597																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.e3-1		transcription factor 7 (T-cell specific, HMG-box)							54.0	58.0	57.0					5																	133451600		2203	4300	6503	SO:0001630	splice_region_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133451600G>A	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.317-1G>A	5.37:g.133451600G>A						TCF7_ENST00000342854.5_Splice_Site_p.G106_splice|TCF7_ENST00000518915.1_5'UTR|TCF7_ENST00000321584.4_Splice_Site_p.G106_splice|TCF7_ENST00000378560.4_5'UTR|TCF7_ENST00000378564.1_Splice_Site_p.G106_splice|TCF7_ENST00000520958.1_5'UTR|TCF7_ENST00000432532.2_5'UTR|TCF7_ENST00000321603.6_Splice_Site_p.G106_splice|TCF7_ENST00000395023.1_5'UTR	p.G106_splice			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	512	+		Breast(839;0.058)	106					B3KSH3|Q86WR9|Q9UKI4	Splice_Site	SNP	ENST00000321584.4	37	c.316_splice		.	.	.	.	.	.	.	.	.	.	G	18.68	3.675453	0.67928	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029	D;D;D;D;D	0.99619	-6.23;-6.24;-6.28;-6.27;-5.97	5.1	5.1	0.69264	.	0.000000	0.40144	N	0.001161	D	0.99158	0.9709	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98869	1.0765	10	0.59425	D	0.04	.	14.0806	0.64919	0.0:0.0:1.0:0.0	.	106	P36402-5	.	D	106	ENSP00000340347:G106D;ENSP00000326654:G106D;ENSP00000326540:G106D;ENSP00000367827:G106D;ENSP00000378472:G106D	ENSP00000326540:G106D	G	+	2	0	TCF7	133479499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.682000	0.46934	2.372000	0.80975	0.558000	0.71614	GGC		0.597	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	Missense_Mutation	14	22	0	0	0	1	0	14	22				
RASD1	51655	broad.mit.edu	37	17	17398529	17398529	+	Silent	SNP	C	C	T	rs373249882	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17398529C>T	ENST00000225688.3	-	2	967	c.756G>A	c.(754-756)cgG>cgA	p.R252R	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	252					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTACGCTGGGCCGGCGCGCGA	0.716																																						ENST00000225688.3																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(754-756)cgG>cgA		RAS, dexamethasone-induced 1							13.0	13.0	13.0					17																	17398529		2188	4275	6463	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17398529C>T	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.756G>A	17.37:g.17398529C>T						RASD1_ENST00000579152.1_3'UTR	p.R252R	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN			2	967	-			252					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.756G>A	CCDS11185.1																																																																																				0.716	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		7	12	0	0	0	1	0	7	12				
ALS2	57679	broad.mit.edu	37	2	202626434	202626434	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202626434T>C	ENST00000264276.6	-	4	655	c.283A>G	c.(283-285)Act>Gct	p.T95A	ALS2_ENST00000467448.1_Missense_Mutation_p.T95A|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	95					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTGCCACAGTAATAACATAT	0.507																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(283-285)Act>Gct		amyotrophic lateral sclerosis 2 (juvenile)							122.0	118.0	120.0					2																	202626434		1984	4160	6144	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626434T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.283A>G	2.37:g.202626434T>C	ENSP00000264276:p.Thr95Ala					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T95A	p.T95A	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	655	-			95					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.283A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	8.088	0.773866	0.16051	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	6.07	4.93	0.64822	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.167786	0.53938	D	0.000052	T	0.56001	0.1956	N	0.17674	0.51	0.80722	D	1	B;B;B;B	0.17852	0.024;0.005;0.001;0.002	B;B;B;B	0.15484	0.01;0.013;0.001;0.0	T	0.51108	-0.8747	10	0.05525	T	0.97	.	6.879	0.24163	0.1343:0.0697:0.0:0.796	.	95;95;95;95	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	A	95	ENSP00000264276:T95A;ENSP00000429223:T95A;ENSP00000386384:T95A;ENSP00000386948:T95A	ENSP00000264276:T95A	T	-	1	0	ALS2	202334679	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.788000	0.38714	2.326000	0.78906	0.533000	0.62120	ACT		0.507	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		39	65	0	0	0	1	0	39	65				
KIF11	3832	broad.mit.edu	37	10	94368802	94368802	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94368802G>A	ENST00000260731.3	+	5	503	c.413G>A	c.(412-414)cGt>cAt	p.R138H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	138	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAATTCCACGTACCCTTCAT	0.348																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(412-414)cGt>cAt		kinesin family member 11							57.0	59.0	58.0					10																	94368802		2202	4299	6501	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94368802G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.413G>A	10.37:g.94368802G>A	ENSP00000260731:p.Arg138His						p.R138H	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			5	503	+			138			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.413G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836919	0.91117	.	.	ENSG00000138160	ENST00000260731	T	0.79247	-1.25	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93580	0.6912	10	0.72032	D	0.01	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	138	P52732	KIF11_HUMAN	H	138	ENSP00000260731:R138H	ENSP00000260731:R138H	R	+	2	0	KIF11	94358782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.880000	0.98712	0.650000	0.86243	CGT		0.348	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		26	37	0	0	0	1	0	26	37				
UBE3C	9690	broad.mit.edu	37	7	157000543	157000543	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:157000543G>T	ENST00000348165.5	+	13	2083	c.1723G>T	c.(1723-1725)Gca>Tca	p.A575S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	575					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATATATTACAGCATTTCAGAG	0.393																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1723-1725)Gca>Tca		ubiquitin protein ligase E3C							111.0	112.0	112.0					7																	157000543		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000543G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1723G>T	7.37:g.157000543G>T	ENSP00000309198:p.Ala575Ser						p.A575S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	13	2083	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	575					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1723G>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700980	0.48307	.	.	ENSG00000009335	ENST00000348165	T	0.48201	0.82	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.959;0.991	T	0.60777	-0.7196	10	0.16420	T	0.52	-21.1274	19.5257	0.95206	0.0:0.0:1.0:0.0	.	575;575	Q15386;Q15386-2	UBE3C_HUMAN;.	S	575	ENSP00000309198:A575S	ENSP00000309198:A575S	A	+	1	0	UBE3C	156693304	1.000000	0.71417	0.131000	0.22000	0.003000	0.03518	8.834000	0.92094	2.614000	0.88457	0.655000	0.94253	GCA		0.393	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		19	28	1	0	1.96292e-10	1	2.09789e-10	19	28				
ITGAD	3681	broad.mit.edu	37	16	31422650	31422650	+	Missense_Mutation	SNP	G	G	A	rs200809631		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31422650G>A	ENST00000389202.2	+	14	1568	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	507					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCAGTGTGACGCTGTTCTCCG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		16226	0.001		0.0	False		,,,				2504	0.0					ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1519-1521)Gct>Act		integrin, alpha D		G	THR/ALA	0,4394		0,0,2197	118.0	116.0	117.0		1519	-0.5	0.0	16		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGAD	NM_005353.2	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	507/1162	31422650	1,12993	2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422650G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1519G>A	16.37:g.31422650G>A	ENSP00000373854:p.Ala507Thr						p.A507T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			14	1568	+			507					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1519G>A	CCDS32438.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.894	-0.724385	0.03158	0.0	1.16E-4	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.70869	-0.52	4.49	-0.507	0.11985	.	.	.	.	.	T	0.48447	0.1500	N	0.25380	0.74	0.09310	N	1	B;B	0.22003	0.063;0.063	B;B	0.12837	0.008;0.008	T	0.23440	-1.0188	9	0.23302	T	0.38	.	2.3241	0.04218	0.1001:0.1641:0.4001:0.3357	.	523;507	Q59H14;Q13349	.;ITAD_HUMAN	T	523;507	ENSP00000373854:A507T	ENSP00000373854:A507T	A	+	1	0	ITGAD	31330151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.116000	0.10724	-0.029000	0.13827	0.407000	0.27541	GCT		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		48	72	0	0	0	1	0	48	72				
MIR380	494329	broad.mit.edu	37	14	101492098	101492098	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:101492098G>A	ENST00000362112.2	-	0	0				MIR329-1_ENST00000385028.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR411_ENST00000362239.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR299_ENST00000385016.2_RNA	NR_029872.1				microRNA 380																		GGTCCGTGGCGCGTTCGCTTT	0.537																																						ENST00000362199.1																			0																				183.0	169.0	173.0					14																	101492098		1568	3582	5150			0							g.chr14:101492098G>A			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101492098G>A								NR_029890.1						0	30	+									RNA	SNP	ENST00000362112.2	37																																																																																						0.537	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		22	84	0	0	0	1	0	22	84				
CLEC18B	497190	broad.mit.edu	37	16	74446757	74446757	+	Missense_Mutation	SNP	C	C	T	rs139377062	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74446757C>T	ENST00000339953.5	-	6	819	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	233	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGCTCATGCGACAAGGATT	0.627																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(697-699)cGc>cAc		C-type lectin domain family 18, member B		G	HIS/ARG	29,4367		0,29,2169	74.0	83.0	80.0		698	2.2	1.0	16	dbSNP_134	80	1,8593		0,1,4296	no	missense	CLEC18B	NM_001011880.2	29	0,30,6465	TT,TC,CC		0.0116,0.6597,0.2309	probably-damaging	233/456	74446757	30,12960	2198	4297	6495	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74446757C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.698G>A	16.37:g.74446757C>T	ENSP00000341051:p.Arg233His						p.R233H	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			6	819	-			233			EGF-like.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.698G>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173043	0.38413	0.006597	1.16E-4	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.23552	1.9	3.14	2.17	0.27698	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.51422	1.61	0.37331	D	0.909957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.19647	-1.0299	10	0.41790	T	0.15	.	8.3784	0.32457	0.0:0.7564:0.2436:0.0	.	153;233;233	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	H	233;233;233;153	ENSP00000341051:R233H	ENSP00000268492:R233H	R	-	2	0	CLEC18B	73004258	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	4.463000	0.60128	0.658000	0.30925	-0.464000	0.05259	CGC		0.627	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		13	120	0	0	0	1	0	13	120				
ALDH7A1	501	broad.mit.edu	37	5	125890047	125890047	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:125890047C>A	ENST00000409134.3	-	13	1351	c.1132G>T	c.(1132-1134)Gtg>Ttg	p.V378L	RNU6-963P_ENST00000363477.1_RNA|ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	378					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		AACATGCTCACTGCCTGCTTG	0.473																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1132-1134)Gtg>Ttg		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						203.0	167.0	179.0					5																	125890047		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125890047C>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1132G>T	5.37:g.125890047C>A	ENSP00000387123:p.Val378Leu					ALDH7A1_ENST00000553117.1_Intron|ALDH7A1_ENST00000447989.2_Intron	p.V378L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	13	1351	-		all_cancers(142;0.24)|Prostate(80;0.081)	378					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1132G>T	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513104	0.64522	.	.	ENSG00000164904	ENST00000409134;ENST00000437170	D	0.90324	-2.65	4.6	4.6	0.57074	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.44542	1.39	0.80722	D	1	B	0.29671	0.254	B	0.28305	0.088	D	0.86809	0.1997	10	0.56958	D	0.05	.	17.5604	0.87905	0.0:1.0:0.0:0.0	.	378	P49419	AL7A1_HUMAN	L	378;186	ENSP00000387123:V378L	ENSP00000387123:V378L	V	-	1	0	ALDH7A1	125917946	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.563000	0.82314	2.554000	0.86153	0.655000	0.94253	GTG		0.473	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		6	147	1	0	0.248553	1	0.248844	6	147				
APBA1	320	broad.mit.edu	37	9	72131762	72131762	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72131762T>C	ENST00000265381.4	-	2	587	c.365A>G	c.(364-366)tAc>tGc	p.Y122C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTCGGGCCGGTACTGCACAGC	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(364-366)tAc>tGc		amyloid beta (A4) precursor protein-binding, family A, member 1							28.0	26.0	27.0					9																	72131762		2201	4298	6499	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131762T>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.365A>G	9.37:g.72131762T>C	ENSP00000265381:p.Tyr122Cys						p.Y122C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	587	-			122					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.365A>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934923	0.52866	.	.	ENSG00000107282	ENST00000265381	T	0.05199	3.48	5.16	3.98	0.46160	.	0.235855	0.37178	N	0.002203	T	0.06962	0.0177	N	0.24115	0.695	0.41146	D	0.985998	D	0.58620	0.983	P	0.46975	0.533	T	0.25779	-1.0122	10	0.87932	D	0	.	11.441	0.50096	0.1352:0.0:0.0:0.8648	.	122	Q02410	APBA1_HUMAN	C	122	ENSP00000265381:Y122C	ENSP00000265381:Y122C	Y	-	2	0	APBA1	71321582	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.823000	0.48081	0.869000	0.35703	0.459000	0.35465	TAC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	9	0	0	0	1	0	4	9				
DALRD3	55152	broad.mit.edu	37	3	49053301	49053301	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49053301C>T	ENST00000341949.4	-	11	1454	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000608424.1_3'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.M474I|DALRD3_ENST00000440857.1_Missense_Mutation_p.M349I|DALRD3_ENST00000395462.4_Missense_Mutation_p.C316Y|DALRD3_ENST00000313778.5_Missense_Mutation_p.C316Y	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	483					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAACTTGCATATCTAGAG	0.517																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(1045-1047)atG>atA		DALR anticodon binding domain containing 3							125.0	123.0	124.0					3																	49053301		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053301C>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1448G>A	3.37:g.49053301C>T	ENSP00000344989:p.Cys483Tyr					WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000395462.4_Missense_Mutation_p.C316Y|DALRD3_ENST00000441576.2_Missense_Mutation_p.M474I|DALRD3_ENST00000341949.4_Missense_Mutation_p.C483Y|DALRD3_ENST00000313778.5_Missense_Mutation_p.C316Y	p.M349I			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1749	-			54					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.1047G>A	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.328976|4.328976	0.81690|0.81690	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000341949;ENST00000395462;ENST00000313778|ENST00000438585;ENST00000441576;ENST00000440857	T;T;T|T;T	0.77877|0.44881	-1.13;-1.13;-1.13|0.97;0.91	5.75|5.75	5.75|5.75	0.90469|0.90469	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48926|0.48926	0.1527|0.1527	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D|B;B	0.63046|0.09022	0.992|0.001;0.002	D|B;B	0.69654|0.08055	0.965|0.001;0.003	T|T	0.42632|0.42632	-0.9440|-0.9440	10|8	0.87932|.	D|.	0|.	-25.5952|-25.5952	20.0114|20.0114	0.97452|0.97452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	483|349;474	Q5D0E6|C9JJG6;Q5D0E6-2	DALD3_HUMAN|.;.	Y|I	483;316;316|129;474;349	ENSP00000344989:C483Y;ENSP00000378846:C316Y;ENSP00000323265:C316Y|ENSP00000410623:M474I;ENSP00000403770:M349I	ENSP00000323265:C316Y|.	C|M	-|-	2|3	0|0	DALRD3|DALRD3	49028305|49028305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.600000|6.600000	0.74132|0.74132	2.724000|2.724000	0.93272|0.93272	0.556000|0.556000	0.70494|0.70494	TGC|ATG		0.517	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		25	41	0	0	0	1	0	25	41				
ANKFN1	162282	broad.mit.edu	37	17	54554980	54554980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54554980C>A	ENST00000318698.2	+	15	1949	c.1914C>A	c.(1912-1914)tgC>tgA	p.C638*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.C638*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	638										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACATTCTCTGCCACGTGAAGA	0.408																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1912-1914)tgC>tgA		ankyrin-repeat and fibronectin type III domain containing 1							152.0	148.0	149.0					17																	54554980		2203	4300	6503	SO:0001587	stop_gained	162282							g.chr17:54554980C>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1914C>A	17.37:g.54554980C>A	ENSP00000321627:p.Cys638*					ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.C638*	p.C638*			Q8N957	ANKF1_HUMAN			15	1914	+			638						Nonsense_Mutation	SNP	ENST00000318698.2	37	c.1914C>A	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711434	0.96821	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.83	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-9.3438	9.1081	0.36710	0.0:0.6338:0.0:0.3662	.	.	.	.	X	638	.	ENSP00000321627:C638X	C	+	3	2	ANKFN1	51909979	0.941000	0.31946	1.000000	0.80357	0.963000	0.63663	0.095000	0.15127	0.751000	0.32900	0.655000	0.94253	TGC		0.408	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		9	85	1	0	0.000978159	1	0.000994766	9	85				
DSCAM	1826	broad.mit.edu	37	21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T	rs376716215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1771-1773)Gtg>Atg		Down syndrome cell adhesion molecule							140.0	141.0	140.0					21																	41710040		2081	4214	6295	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710040C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1771G>A	21.37:g.41710040C>T	ENSP00000383303:p.Val591Met						p.V591M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2248	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	591			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1771G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390084	0.82902	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.80123	-1.34;-1.34	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.067420	0.64402	D	0.000015	D	0.88455	0.6441	M	0.88775	2.98	0.58432	D	0.999997	D	0.61080	0.989	P	0.51016	0.656	D	0.90751	0.4657	10	0.72032	D	0.01	.	19.2329	0.93847	0.0:1.0:0.0:0.0	.	591	O60469	DSCAM_HUMAN	M	591;343	ENSP00000383303:V591M;ENSP00000385342:V343M	ENSP00000383303:V591M	V	-	1	0	DSCAM	40631910	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.607000	0.82883	2.617000	0.88574	0.655000	0.94253	GTG		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		31	13	0	0	0	1	0	31	13				
TMEM39B	55116	broad.mit.edu	37	1	32557293	32557293	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32557293C>T	ENST00000336294.5	+	6	754	c.608C>T	c.(607-609)cCg>cTg	p.P203L	TMEM39B_ENST00000427288.1_Missense_Mutation_p.P88L|TMEM39B_ENST00000456834.2_Silent_p.S151S|TMEM39B_ENST00000373634.4_Missense_Mutation_p.P4L|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	203						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTACATTCCGTTCCTGCAG	0.612																																						ENST00000427288.1																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(262-264)cCg>cTg		transmembrane protein 39B							51.0	50.0	50.0					1																	32557293		2203	4300	6503	SO:0001583	missense	55116					integral to membrane		g.chr1:32557293C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.608C>T	1.37:g.32557293C>T	ENSP00000338165:p.Pro203Leu					TMEM39B_ENST00000336294.5_Missense_Mutation_p.P203L|TMEM39B_ENST00000456834.2_Silent_p.S151S|TMEM39B_ENST00000373634.4_Missense_Mutation_p.P4L|TMEM39B_ENST00000487305.1_3'UTR	p.P88L			Q9GZU3	TM39B_HUMAN			7	743	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	203					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	c.263C>T	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	34	5.354723	0.95854	.	.	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000373634;ENST00000427288	.	.	.	5.43	5.43	0.79202	.	0.102199	0.64402	D	0.000002	T	0.66761	0.2822	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.971;0.999;0.999	T	0.57768	-0.7754	9	0.02654	T	1	-30.0047	19.6273	0.95682	0.0:1.0:0.0:0.0	.	203;88;76	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	L	203;175;175;4;88	.	ENSP00000338165:P203L	P	+	2	0	TMEM39B	32329880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.325000	0.79124	2.726000	0.93360	0.655000	0.94253	CCG		0.612	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		15	22	0	0	0	1	0	15	22				
AFF3	3899	broad.mit.edu	37	2	100623347	100623347	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100623347C>T	ENST00000409236.2	-	5	732	c.620G>A	c.(619-621)aGc>aAc	p.S207N	AFF3_ENST00000356421.2_Missense_Mutation_p.S232N|AFF3_ENST00000409579.1_Missense_Mutation_p.S232N|AFF3_ENST00000317233.4_Missense_Mutation_p.S207N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	207					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGCTGCTGCTGTGCTTGGC	0.597																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(619-621)aGc>aAc		AF4/FMR2 family, member 3							83.0	83.0	83.0					2																	100623347		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623347C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.620G>A	2.37:g.100623347C>T	ENSP00000387207:p.Ser207Asn					AFF3_ENST00000409579.1_Missense_Mutation_p.S232N|AFF3_ENST00000356421.2_Missense_Mutation_p.S232N|AFF3_ENST00000409236.1_Missense_Mutation_p.S207N	p.S207N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	855	-			207					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.620G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.021026	0.35606	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.45	4.57	0.56435	.	0.570276	0.18223	N	0.147823	T	0.52757	0.1754	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.31655	0.003;0.001;0.334;0.002;0.001	B;B;B;B;B	0.30943	0.012;0.002;0.122;0.003;0.002	T	0.39251	-0.9623	10	0.23302	T	0.38	.	9.0242	0.36218	0.1467:0.7792:0.0:0.0741	.	361;361;207;207;232	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	N	207;232;232;207;207;361;232	ENSP00000317421:S207N;ENSP00000348793:S232N;ENSP00000386834:S232N;ENSP00000387207:S207N	ENSP00000317421:S207N	S	-	2	0	AFF3	99989779	0.114000	0.22134	0.135000	0.22099	0.965000	0.64279	1.922000	0.40045	1.293000	0.44690	0.650000	0.86243	AGC		0.597	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		20	29	0	0	0	1	0	20	29				
CYP4Z1	199974	broad.mit.edu	37	1	47571860	47571860	+	Silent	SNP	C	C	T	rs142306823	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47571860C>T	ENST00000334194.3	+	9	1131	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	376						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCCGCCTCTACGCACCGGTAG	0.473													C|||	4	0.000798722	0.0023	0.0	5008	,	,		19461	0.0		0.0	False		,,,				2504	0.001					ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1126-1128)taC>taT		cytochrome P450, family 4, subfamily Z, polypeptide 1		C		5,4401	9.9+/-24.2	0,5,2198	119.0	105.0	109.0		1128	-4.8	0.0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	CYP4Z1	NM_178134.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		376/506	47571860	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47571860C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1128C>T	1.37:g.47571860C>T						CYP4A22-AS1_ENST00000444042.2_lincRNA	p.Y376Y	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			9	1131	+			376					Q5VVE4	Silent	SNP	ENST00000334194.3	37	c.1128C>T	CCDS545.1																																																																																				0.473	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		29	65	0	0	0	1	0	29	65				
TTN	7273	broad.mit.edu	37	2	179400468	179400468	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179400468G>T	ENST00000591111.1	-	308	96175	c.95951C>A	c.(95950-95952)cCt>cAt	p.P31984H	TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31057H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24685H|TTN_ENST00000460472.2_Missense_Mutation_p.P24560H|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P33625H|TTN_ENST00000342175.6_Missense_Mutation_p.P24752H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31984	Ig-like 142.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATCACAGGATCTGGTTT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100873-100875)cCt>cAt		titin							115.0	114.0	114.0					2																	179400468		1965	4160	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400468G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95951C>A	2.37:g.179400468G>T	ENSP00000465570:p.Pro31984His					TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24752H|TTN_ENST00000591111.1_Missense_Mutation_p.P31984H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24560H|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P31057H|TTN_ENST00000359218.5_Missense_Mutation_p.P24685H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA	p.P33625H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101098	-			31984					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100874C>A		.	.	.	.	.	.	.	.	.	.	G	16.69	3.192797	0.58017	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90528	0.7032	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92831	0.6280	9	0.87932	D	0	.	19.319	0.94229	0.0:0.0:1.0:0.0	.	24560;24685;24752;31984	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	31057;24560;24752;24685;24557	ENSP00000343764:P31057H;ENSP00000434586:P24560H;ENSP00000340554:P24752H;ENSP00000352154:P24685H	ENSP00000340554:P24752H	P	-	2	0	TTN	179108714	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.813000	0.99286	2.640000	0.89533	0.563000	0.77884	CCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	41	1	0	5.49717e-05	1	5.64882e-05	25	41				
WT1	7490	broad.mit.edu	37	11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	rs121907909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32413578G>A	ENST00000379079.2	-	9	1009	c.736C>T	c.(736-738)Cga>Tga	p.R246*	WT1_ENST00000332351.3_Nonsense_Mutation_p.R458*|WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	390					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	10	Substitution - Nonsense(9)|Deletion - In frame(1)	p.R390*(9)|p.V380_S410del(1)	kidney(6)|haematopoietic_and_lymphoid_tissue(4)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM971596	WT1	M	rs121907909	c.(1372-1374)Cga>Tga		Wilms tumor 1							178.0	171.0	173.0					11																	32413578		2202	4299	6501	SO:0001587	stop_gained	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413578G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.736C>T	11.37:g.32413578G>A	ENSP00000368370:p.Arg246*					WT1_ENST00000448076.3_Nonsense_Mutation_p.R458*|WT1_ENST00000379079.2_Nonsense_Mutation_p.R246*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R229*	p.R458*	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1656	-	Breast(20;0.247)		390					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonsense_Mutation	SNP	ENST00000379079.2	37	c.1372C>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.146895|8.146895	0.98678|0.98678	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|.	.|.	.|.	6.04|6.04	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|.	0.34890|.	0.0913|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26950|.	-1.0088|.	3|.	.|0.02654	.|T	.|1	.|.	13.9745|13.9745	0.64262|0.64262	0.0:0.0:0.7756:0.2244|0.0:0.0:0.7756:0.2244	.|.	.|.	.|.	.|.	V|X	118|246;458;229;441;458	.|.	.|ENSP00000331327:R458X	A|R	-|-	2|1	0|2	WT1|WT1	32370154|32370154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.624000|4.624000	0.61254|0.61254	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.458	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		78	79	0	0	0	1	0	78	79				
ADAMTS10	81794	broad.mit.edu	37	19	8660982	8660982	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8660982G>A	ENST00000597188.1	-	11	1582	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R438C	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	438	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATGTAGTCACGGCTGCAGGAT	0.582																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1312-1314)Cgt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 10							107.0	102.0	104.0					19																	8660982		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8660982G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1312C>T	19.37:g.8660982G>A	ENSP00000471851:p.Arg438Cys					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R438C	p.R438C			Q9H324	ATS10_HUMAN			10	1578	-			438			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1312C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415492	0.62511	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.08896	3.04	4.27	4.27	0.50696	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.35508	0.0934	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.40924	-0.9537	10	0.87932	D	0	.	11.6519	0.51295	0.0:0.0:0.8096:0.1904	.	192;438	Q59FE5;Q9H324	.;ATS10_HUMAN	C	438;192	ENSP00000270328:R438C	ENSP00000270328:R438C	R	-	1	0	ADAMTS10	8566982	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.918000	0.56432	2.205000	0.71048	0.313000	0.20887	CGT		0.582	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		33	43	0	0	0	1	0	33	43				
USP9X	8239	broad.mit.edu	37	X	41029390	41029390	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:41029390G>A	ENST00000324545.8	+	19	3412	c.2779G>A	c.(2779-2781)Gta>Ata	p.V927I	USP9X_ENST00000378308.2_Missense_Mutation_p.V927I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	927					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAGCCAACGTAGCCCATAC	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2779-2781)Gta>Ata		ubiquitin specific peptidase 9, X-linked							105.0	96.0	99.0					X																	41029390		2162	4274	6436	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41029390G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2779G>A	X.37:g.41029390G>A	ENSP00000316357:p.Val927Ile					USP9X_ENST00000378308.2_Missense_Mutation_p.V927I	p.V927I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			19	3412	+			927					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2779G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395883	0.42512	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03272	3.99;4.0	5.85	3.85	0.44370	.	0.260957	0.42053	D	0.000774	T	0.03136	0.0092	L	0.52573	1.65	0.27383	N	0.955371	B;B	0.30193	0.151;0.272	B;B	0.20767	0.031;0.014	T	0.38735	-0.9647	10	0.17369	T	0.5	.	4.2715	0.10789	0.5265:0.0:0.4735:0.0	.	927;927	Q93008-1;Q93008	.;USP9X_HUMAN	I	927	ENSP00000367558:V927I;ENSP00000316357:V927I	ENSP00000316357:V927I	V	+	1	0	USP9X	40914334	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	6.303000	0.72794	1.212000	0.43366	-0.215000	0.12644	GTA		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		35	4	0	0	0	1	0	35	4				
OVOL1	5017	broad.mit.edu	37	11	65562113	65562113	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65562113C>T	ENST00000335987.3	+	3	775	c.423C>T	c.(421-423)aaC>aaT	p.N141N	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Silent_p.N79N	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	141					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AGTGTCACAACGACGTCAAGA	0.577																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(421-423)aaC>aaT		ovo-like zinc finger 1							142.0	105.0	118.0					11																	65562113		2201	4297	6498	SO:0001819	synonymous_variant	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562113C>T	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.423C>T	11.37:g.65562113C>T						OVOL1_ENST00000532448.1_Silent_p.N79N	p.N141N	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	3	775	+			141					Q6PCB1	Silent	SNP	ENST00000335987.3	37	c.423C>T	CCDS8112.1																																																																																				0.577	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		13	26	0	0	0	1	0	13	26				
MUC16	94025	broad.mit.edu	37	19	8993026	8993026	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8993026G>T	ENST00000397910.4	-	67	41936	c.41733C>A	c.(41731-41733)agC>agA	p.S13911R	MUC16_ENST00000380951.5_Missense_Mutation_p.S552R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13936				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGTACAGAGCTCCGATGGG	0.537																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41731-41733)agC>agA		mucin 16, cell surface associated							129.0	118.0	121.0					19																	8993026		1912	4130	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993026G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41733C>A	19.37:g.8993026G>T	ENSP00000381008:p.Ser13911Arg					MUC16_ENST00000380951.5_Missense_Mutation_p.S552R	p.S13911R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			67	41936	-			13914	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41733C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.927|9.927	1.213729|1.213729	0.22289|0.22289	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.35236	.|1.32;1.32	2.64|2.64	-1.81|-1.81	0.07882|0.07882	.|.	.|.	.|.	.|.	.|.	T|T	0.46483|0.46483	0.1395|0.1395	.|.	.|.	.|.	.|.	.|.	.|.	.|B;D	.|0.53312	.|0.182;0.959	.|B;D	.|0.70716	.|0.015;0.97	T|T	0.49698|0.49698	-0.8912|-0.8912	3|7	.|0.45353	.|T	.|0.12	.|.	2.8138|2.8138	0.05450|0.05450	0.2886:0.0:0.496:0.2154|0.2886:0.0:0.496:0.2154	.|.	.|21556;13911	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	D|R	751|13911;552	.|ENSP00000381008:S13911R;ENSP00000370338:S552R	.|ENSP00000370338:S552R	A|S	-|-	2|3	0|2	MUC16|MUC16	8854026|8854026	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.111000|0.111000	0.19643|0.19643	-0.235000|-0.235000	0.09016|0.09016	-0.398000|-0.398000	0.07679|0.07679	0.400000|0.400000	0.26472|0.26472	GCT|AGC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	40	1	0	2.70639e-06	1	2.81266e-06	21	40				
ONECUT1	3175	broad.mit.edu	37	15	53081569	53081569	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53081569G>A	ENST00000305901.5	-	1	640	c.513C>T	c.(511-513)gaC>gaT	p.D171D	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	171					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGCCGGCCACGTCCTTGTGGT	0.667																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(511-513)gaC>gaT		one cut homeobox 1							50.0	64.0	59.0					15																	53081569		2193	4292	6485	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081569G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.513C>T	15.37:g.53081569G>A						ONECUT1_ENST00000561401.2_Intron	p.D171D	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	640	-			171					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.513C>T	CCDS10150.1																																																																																				0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	54	0	0	0	1	0	4	54				
KIAA0100	9703	broad.mit.edu	37	17	26964904	26964904	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26964904A>G	ENST00000528896.2	-	14	1795	c.1721T>C	c.(1720-1722)gTg>gCg	p.V574A	KIAA0100_ENST00000389003.3_Missense_Mutation_p.V431A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V431A|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	574						extracellular region (GO:0005576)				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)					CTTCAAGTCCACCTTCCACAG	0.473																																						ENST00000528896.2																			0				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						c.(1720-1722)gTg>gCg		KIAA0100							123.0	105.0	111.0					17																	26964904		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964904A>G	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.1721T>C	17.37:g.26964904A>G	ENSP00000436773:p.Val574Ala					KIAA0100_ENST00000544884.1_Missense_Mutation_p.V431A|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V431A	p.V574A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1795	-	Lung NSC(42;0.00431)		574					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1721T>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416022	0.83449	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.31510	1.51;1.49	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.160556	0.48767	D	0.000162	T	0.32793	0.0841	L	0.29908	0.895	0.54753	D	0.999982	P	0.43024	0.798	P	0.47044	0.535	T	0.03773	-1.1005	10	0.44086	T	0.13	.	16.0821	0.81012	1.0:0.0:0.0:0.0	.	574	Q14667	K0100_HUMAN	A	574;574;574;431	ENSP00000436773:V574A;ENSP00000446443:V431A	ENSP00000005905:V574A	V	-	2	0	KIAA0100	23989031	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.866000	0.87056	2.200000	0.70718	0.460000	0.39030	GTG		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		16	31	0	0	0	1	0	16	31				
MLH1	4292	broad.mit.edu	37	3	37090489	37090489	+	Missense_Mutation	SNP	C	C	T	rs63749995		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37090489C>T	ENST00000231790.2	+	18	2300	c.2084C>T	c.(2083-2085)tCg>tTg	p.S695L	MLH1_ENST00000435176.1_Missense_Mutation_p.S597L|MLH1_ENST00000536378.1_Missense_Mutation_p.S454L|MLH1_ENST00000458205.2_Missense_Mutation_p.S454L|MLH1_ENST00000455445.2_Missense_Mutation_p.S454L|MLH1_ENST00000539477.1_Missense_Mutation_p.S454L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	695					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCTGAGGAGTCGACCCTCTCA	0.488		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(2083-2085)tCg>tTg	Mismatch excision repair (MMR)	mutL homolog 1							82.0	87.0	86.0					3																	37090489		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37090489C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2084C>T	3.37:g.37090489C>T	ENSP00000231790:p.Ser695Leu					MLH1_ENST00000435176.1_Missense_Mutation_p.S597L|MLH1_ENST00000536378.1_Missense_Mutation_p.454_454insL|MLH1_ENST00000455445.2_Missense_Mutation_p.S454L|MLH1_ENST00000539477.1_Missense_Mutation_p.S454L|MLH1_ENST00000458205.2_Missense_Mutation_p.S454L	p.S695L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			18	2300	+			695					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.2084C>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914375	0.52546	.	.	ENSG00000076242	ENST00000231790;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.46	5.46	0.80206	.	0.438573	0.24502	N	0.037975	T	0.81688	0.4875	L	0.38175	1.15	0.43211	D	0.995074	P;P;P;B	0.47762	0.787;0.666;0.9;0.23	B;B;B;B	0.26202	0.043;0.046;0.067;0.004	D	0.83545	0.0098	10	0.41790	T	0.15	-5.1982	19.7572	0.96298	0.0:1.0:0.0:0.0	.	597;695;454;695	E9PCU2;B2R6K0;B4DI13;P40692	.;.;.;MLH1_HUMAN	L	695;454;454;454;597;454	ENSP00000231790:S695L;ENSP00000402667:S454L;ENSP00000443665:S454L;ENSP00000398272:S454L;ENSP00000402564:S597L;ENSP00000444286:S454L	ENSP00000231790:S695L	S	+	2	0	MLH1	37065493	0.995000	0.38212	0.983000	0.44433	0.978000	0.69477	3.880000	0.56145	2.741000	0.93983	0.650000	0.86243	TCG		0.488	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		10	16	0	0	0	1	0	10	16				
TUBGCP3	10426	broad.mit.edu	37	13	113208477	113208477	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113208477A>G	ENST00000261965.3	-	8	1046	c.860T>C	c.(859-861)tTg>tCg	p.L287S	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L287S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	287					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGTGTCTCTCAAAGACCTACT	0.388																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(859-861)tTg>tCg		tubulin, gamma complex associated protein 3							79.0	77.0	78.0					13																	113208477		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113208477A>G	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.860T>C	13.37:g.113208477A>G	ENSP00000261965:p.Leu287Ser					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L287S	p.L287S	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			8	1046	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		287					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.860T>C	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	A	8.575	0.881067	0.17467	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.11930	2.73;2.73	5.0	5.0	0.66597	.	0.262591	0.32002	N	0.006721	T	0.13200	0.0320	N	0.20986	0.625	0.58432	D	0.999997	B;P;B;B	0.44659	0.274;0.84;0.232;0.274	B;P;B;B	0.44647	0.18;0.456;0.113;0.18	T	0.06232	-1.0838	10	0.39692	T	0.17	-16.1743	14.7722	0.69688	1.0:0.0:0.0:0.0	.	277;287;287;287	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	S	287	ENSP00000261965:L287S;ENSP00000364821:L287S	ENSP00000261965:L287S	L	-	2	0	TUBGCP3	112256478	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	8.341000	0.90046	1.887000	0.54652	0.367000	0.22151	TTG		0.388	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	23	0	0	0	1	0	24	23				
TCP11L2	255394	broad.mit.edu	37	12	106729832	106729832	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106729832G>A	ENST00000299045.3	+	8	1157	c.983G>A	c.(982-984)cGt>cAt	p.R328H		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	328										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GATGGAGCACGTCTTCAGGAA	0.368																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(982-984)cGt>cAt		t-complex 11, testis-specific-like 2							80.0	71.0	74.0					12																	106729832		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106729832G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.983G>A	12.37:g.106729832G>A	ENSP00000299045:p.Arg328His						p.R328H	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			8	1157	+			328					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.983G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635048	0.87760	.	.	ENSG00000166046	ENST00000299045	T	0.64618	-0.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85440	0.1154	10	0.72032	D	0.01	-7.4144	20.2602	0.98440	0.0:0.0:1.0:0.0	.	328	Q8N4U5	T11L2_HUMAN	H	328	ENSP00000299045:R328H	ENSP00000299045:R328H	R	+	2	0	TCP11L2	105253962	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.607000	0.74163	2.861000	0.98227	0.655000	0.94253	CGT		0.368	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		5	35	0	0	0	1	0	5	35				
MYO5B	4645	broad.mit.edu	37	18	47404230	47404230	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47404230T>C	ENST00000285039.7	-	25	3598	c.3299A>G	c.(3298-3300)aAc>aGc	p.N1100S	MYO5B_ENST00000324581.6_Missense_Mutation_p.N241S|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1100					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTTGATGGGTTCCGCCTATG	0.483																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3298-3300)aAc>aGc		myosin VB							267.0	259.0	261.0					18																	47404230		1985	4157	6142	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404230T>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3299A>G	18.37:g.47404230T>C	ENSP00000285039:p.Asn1100Ser					MYO5B_ENST00000324581.6_Missense_Mutation_p.N241S	p.N1100S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3598	-			1100					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3299A>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557173	0.65425	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.17691	2.26;2.26	5.9	5.9	0.94986	.	0.050076	0.85682	D	0.000000	T	0.15869	0.0382	L	0.41710	1.295	0.51767	D	0.999936	B;D	0.60160	0.024;0.987	B;P	0.45167	0.016;0.472	T	0.03193	-1.1062	10	0.02654	T	1	.	16.0051	0.80357	0.0:0.0:0.0:1.0	.	1100;241	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	S	1100;241	ENSP00000285039:N1100S;ENSP00000315531:N241S	ENSP00000285039:N1100S	N	-	2	0	MYO5B	45658228	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.770000	0.68873	2.264000	0.75181	0.533000	0.62120	AAC		0.483	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			44	78	0	0	0	1	0	44	78				
CCR7	1236	broad.mit.edu	37	17	38711171	38711171	+	Silent	SNP	G	G	A	rs200496791		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38711171G>A	ENST00000246657.2	-	3	1022	c.960C>T	c.(958-960)tgC>tgT	p.C320C	CCR7_ENST00000579344.1_Silent_p.C314C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	320					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAGGGTTGACGCAGCAGCGGA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23812	0.0		0.0	False		,,,				2504	0.0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(958-960)tgC>tgT		chemokine (C-C motif) receptor 7							183.0	147.0	159.0					17																	38711171		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711171G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.960C>T	17.37:g.38711171G>A						CCR7_ENST00000579344.1_Silent_p.C314C	p.C320C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	1022	-		Breast(137;0.000496)	320						Silent	SNP	ENST00000246657.2	37	c.960C>T	CCDS11369.1																																																																																				0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			14	13	0	0	0	1	0	14	13				
PEX1	5189	broad.mit.edu	37	7	92134102	92134102	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92134102G>T	ENST00000248633.4	-	12	2110	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	PEX1_ENST00000438045.1_Missense_Mutation_p.A350D|PEX1_ENST00000541751.1_Missense_Mutation_p.A89D|PEX1_ENST00000428214.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	672			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCGGGACAGCAGGCAGTCC	0.522																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2014-2016)gCt>gAt		peroxisomal biogenesis factor 1							158.0	140.0	146.0					7																	92134102		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134102G>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2015C>A	7.37:g.92134102G>T	ENSP00000248633:p.Ala672Asp					PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.A89D|PEX1_ENST00000438045.1_Missense_Mutation_p.A350D	p.A672D	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		12	2110	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	672		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2015C>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049675	0.55218	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000541751	D;D;D	0.82081	-1.57;-1.57;-1.57	5.35	2.51	0.30379	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.432805	0.29335	N	0.012443	T	0.67915	0.2944	N	0.11698	0.16	0.09310	N	1	B;B	0.32010	0.195;0.351	B;B	0.35182	0.124;0.197	T	0.60052	-0.7338	10	0.52906	T	0.07	-0.8808	7.9101	0.29785	0.1388:0.2577:0.6035:0.0	.	350;672	E9PE75;O43933	.;PEX1_HUMAN	D	350;672;89	ENSP00000410438:A350D;ENSP00000248633:A672D;ENSP00000438637:A89D	ENSP00000248633:A672D	A	-	2	0	PEX1	91972038	0.245000	0.23899	0.001000	0.08648	0.406000	0.30931	3.086000	0.50159	0.367000	0.24454	0.561000	0.74099	GCT		0.522	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		28	48	1	0	2.48779e-11	1	2.67617e-11	28	48				
IL31RA	133396	broad.mit.edu	37	5	55195937	55195937	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:55195937G>T	ENST00000447346.2	+	8	1111	c.1046G>T	c.(1045-1047)aGg>aTg	p.R349M	IL31RA_ENST00000396834.1_Missense_Mutation_p.R330M|IL31RA_ENST00000297015.3_Missense_Mutation_p.R207M|IL31RA_ENST00000359040.5_Missense_Mutation_p.R349M|IL31RA_ENST00000396836.2_Missense_Mutation_p.R349M|IL31RA_ENST00000354961.4_Missense_Mutation_p.R330M|IL31RA_ENST00000490985.1_Missense_Mutation_p.R207M	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	317	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCACCCTGAGGATTCCAGCT	0.478																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(988-990)aGg>aTg		interleukin 31 receptor A							102.0	112.0	109.0					5																	55195937		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55195937G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1046G>T	5.37:g.55195937G>T	ENSP00000415900:p.Arg349Met					IL31RA_ENST00000396836.2_Missense_Mutation_p.R349M|IL31RA_ENST00000354961.4_Missense_Mutation_p.R330M|IL31RA_ENST00000359040.5_Missense_Mutation_p.R349M|IL31RA_ENST00000297015.3_Missense_Mutation_p.R207M|IL31RA_ENST00000490985.1_Missense_Mutation_p.R207M|IL31RA_ENST00000447346.2_Missense_Mutation_p.R349M	p.R330M	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			10	1485	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	317			Fibronectin type-III 4.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.989G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708275	0.48412	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.45668	1.44;1.13;1.11;1.13;1.23;0.89;1.13	4.41	4.41	0.53225	.	0.424220	0.27891	N	0.017437	T	0.61400	0.2344	M	0.67953	2.075	0.40705	D	0.982515	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.998;0.999;0.997	T	0.63111	-0.6710	10	0.46703	T	0.11	-11.6175	14.3622	0.66779	0.0:0.0:1.0:0.0	.	317;349;330;349;349	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	M	349;330;349;349;207;207;330	ENSP00000380048:R349M;ENSP00000380046:R330M;ENSP00000415900:R349M;ENSP00000351935:R349M;ENSP00000297015:R207M;ENSP00000427533:R207M;ENSP00000347047:R330M	ENSP00000297015:R207M	R	+	2	0	IL31RA	55231694	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	5.191000	0.65110	2.445000	0.82738	0.655000	0.94253	AGG		0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		33	56	1	0	6.53348e-20	1	7.23485e-20	33	56				
GPRASP1	9737	broad.mit.edu	37	X	101912705	101912705	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101912705C>T	ENST00000361600.5	+	5	4665	c.3864C>T	c.(3862-3864)ggC>ggT	p.G1288G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Silent_p.G1288G|GPRASP1_ENST00000444152.1_Silent_p.G1288G|GPRASP1_ENST00000415986.1_Silent_p.G1288G	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1288	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAGCTACAGGCAATGCCAAAA	0.373																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3862-3864)ggC>ggT		G protein-coupled receptor associated sorting protein 1							77.0	65.0	69.0					X																	101912705		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912705C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3864C>T	X.37:g.101912705C>T						GPRASP1_ENST00000444152.1_Silent_p.G1288G|GPRASP1_ENST00000415986.1_Silent_p.G1288G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.G1288G	p.G1288G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4677	+			1288			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3864C>T	CCDS35352.1																																																																																				0.373	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		19	20	0	0	0	1	0	19	20				
SPPL2C	162540	broad.mit.edu	37	17	43922915	43922915	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43922915C>T	ENST00000329196.5	+	1	660	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	215						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCGGCTACAGCGGCGCCGTGC	0.622																																						ENST00000329196.5																			0											c.(643-645)Cgg>Tgg		signal peptide peptidase like 2C							43.0	40.0	41.0					17																	43922915		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922915C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.643C>T	17.37:g.43922915C>T	ENSP00000332488:p.Arg215Trp					MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.R215W	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	660	+			215					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.643C>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105373	0.37145	.	.	ENSG00000185294	ENST00000329196	T	0.05649	3.41	5.03	2.91	0.33838	.	0.000000	0.37577	N	0.002028	T	0.17831	0.0428	M	0.68317	2.08	0.38244	D	0.941403	D	0.76494	0.999	D	0.68765	0.96	T	0.01162	-1.1432	10	0.66056	D	0.02	-14.7329	7.5431	0.27751	0.197:0.6274:0.1756:0.0	.	215	Q8IUH8	IMP5_HUMAN	W	215	ENSP00000332488:R215W	ENSP00000332488:R215W	R	+	1	2	AC217771.1	41278695	0.997000	0.39634	0.910000	0.35882	0.103000	0.19146	0.551000	0.23361	0.611000	0.30052	0.655000	0.94253	CGG		0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		22	41	0	0	0	1	0	22	41				
LPAR5	57121	broad.mit.edu	37	12	6730347	6730347	+	Missense_Mutation	SNP	C	C	T	rs368795459		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6730347C>T	ENST00000329858.4	-	2	824	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R23H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CAAGTGCAGGCGGTGGGTAGG	0.632																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(67-69)cGc>cAc		lysophosphatidic acid receptor 5		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	122.0	104.0	110.0		68,68	-2.2	0.1	12		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPAR5	NM_020400.5,NM_001142961.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	23/373,23/373	6730347	1,13005	2203	4300	6503	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6730347C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.68G>A	12.37:g.6730347C>T	ENSP00000327875:p.Arg23His					LPAR5_ENST00000431922.1_Missense_Mutation_p.R23H|LPAR5_ENST00000540335.1_5'UTR	p.R23H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	824	-			23						Missense_Mutation	SNP	ENST00000329858.4	37	c.68G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901874	0.17760	0.0	1.16E-4	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37235	1.21;1.21	5.16	-2.24	0.06909	.	0.882556	0.09751	N	0.760570	T	0.18467	0.0443	N	0.12182	0.205	0.19300	N	0.999972	B	0.10296	0.003	B	0.04013	0.001	T	0.31336	-0.9947	10	0.15499	T	0.54	.	11.7734	0.51972	0.0:0.3154:0.0:0.6846	.	23	Q9H1C0	LPAR5_HUMAN	H	23	ENSP00000327875:R23H;ENSP00000393098:R23H	ENSP00000327875:R23H	R	-	2	0	LPAR5	6600608	0.000000	0.05858	0.081000	0.20488	0.420000	0.31355	-1.985000	0.01485	-0.363000	0.08101	-0.258000	0.10820	CGC		0.632	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		3	6	0	0	0	1	0	3	6				
PARP4	143	broad.mit.edu	37	13	25026729	25026729	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25026729A>T	ENST00000381989.3	-	24	2934	c.2829T>A	c.(2827-2829)tcT>tcA	p.S943S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	943	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TAGGTGTGGCAGACTGGAGGA	0.468																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2827-2829)tcT>tcA		poly (ADP-ribose) polymerase family, member 4							109.0	108.0	109.0					13																	25026729		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25026729A>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2829T>A	13.37:g.25026729A>T							p.S943S	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	24	2934	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	943			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2829T>A	CCDS9307.1																																																																																				0.468	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		18	65	0	0	0	1	0	18	65				
DAPK3	1613	broad.mit.edu	37	19	3964791	3964791	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3964791C>T	ENST00000545797.2	-	3	504	c.261G>A	c.(259-261)acG>acA	p.T87T	DAPK3_ENST00000301264.3_Silent_p.T87T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCACGTCCGTCTTGTTCT	0.622																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(259-261)acG>acA		death-associated protein kinase 3							112.0	111.0	111.0					19																	3964791		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964791C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.261G>A	19.37:g.3964791C>T						DAPK3_ENST00000301264.3_Silent_p.T87T	p.T87T			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	504	-		Hepatocellular(1079;0.137)	87			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.261G>A	CCDS12116.1																																																																																				0.622	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		8	40	0	0	0	1	0	8	40				
CROT	54677	broad.mit.edu	37	7	86991077	86991077	+	Silent	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:86991077T>A	ENST00000331536.3	+	6	641	c.456T>A	c.(454-456)acT>acA	p.T152T	CROT_ENST00000419147.2_Silent_p.T180T|CROT_ENST00000442291.1_Silent_p.T152T	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	152					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGGAAATACTCCTCTAGATA	0.313																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(454-456)acT>acA		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						79.0	91.0	87.0					7																	86991077		2203	4300	6503	SO:0001819	synonymous_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86991077T>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.456T>A	7.37:g.86991077T>A						CROT_ENST00000419147.2_Silent_p.T180T|CROT_ENST00000442291.1_Silent_p.T152T	p.T152T	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			6	641	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		152					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	c.456T>A	CCDS5604.1																																																																																				0.313	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		45	61	0	0	0	1	0	45	61				
GPR39	2863	broad.mit.edu	37	2	133402941	133402941	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133402941G>A	ENST00000329321.3	+	2	1593	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	375					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCGCCTGCGCGTACATGCG	0.647																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1123-1125)cGc>cAc		G protein-coupled receptor 39							49.0	49.0	49.0					2																	133402941		2203	4299	6502	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402941G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1124G>A	2.37:g.133402941G>A	ENSP00000327417:p.Arg375His					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R375H	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1593	+			375					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1124G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622204	0.66787	.	.	ENSG00000183840	ENST00000329321	T	0.38401	1.14	5.15	5.15	0.70609	.	10.601200	0.00610	N	0.000401	T	0.58666	0.2138	M	0.66939	2.045	0.42892	D	0.994204	D	0.71674	0.998	P	0.57101	0.813	T	0.43877	-0.9364	10	0.72032	D	0.01	.	12.2268	0.54465	0.0774:0.0:0.9226:0.0	.	375	O43194	GPR39_HUMAN	H	375	ENSP00000327417:R375H	ENSP00000327417:R375H	R	+	2	0	GPR39	133119411	0.985000	0.35326	0.805000	0.32314	0.456000	0.32438	2.544000	0.45761	2.692000	0.91855	0.650000	0.86243	CGC		0.647	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			15	35	0	0	0	1	0	15	35				
HIATL1	84641	broad.mit.edu	37	9	97218567	97218567	+	Silent	SNP	G	G	A	rs144765011	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97218567G>A	ENST00000375344.3	+	10	1343	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	358					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CCAGCATCACGTTTCCGGCAA	0.572																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(1072-1074)acG>acA		hippocampus abundant transcript-like 1		G		0,4406		0,0,2203	122.0	94.0	104.0		1074	-10.4	0.0	9	dbSNP_134	104	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	HIATL1	NM_032558.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		358/507	97218567	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97218567G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1074G>A	9.37:g.97218567G>A						HIATL1_ENST00000428393.2_Intron	p.T358T	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			10	1343	+		Acute lymphoblastic leukemia(62;0.136)	358					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	37	c.1074G>A	CCDS6710.2																																																																																				0.572	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		25	47	0	0	0	1	0	25	47				
AC015849.16	0	broad.mit.edu	37	17	34235617	34235617	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34235617G>A	ENST00000587132.1	-	0	2410																											GCTTGTAGAGGCCTTCGGTTC	0.453																																						ENST00000587132.1																			0																																																			0							g.chr17:34235617G>A																													17.37:g.34235617G>A														0	2410	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.453	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			12	32	0	0	0	1	0	12	32				
SETD3	84193	broad.mit.edu	37	14	99865060	99865060	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99865060C>T	ENST00000331768.5	-	13	1900	c.1741G>A	c.(1741-1743)Gcc>Acc	p.A581T		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	581					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GATCCTTTGGCGTCTTCAACT	0.488																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1741-1743)Gcc>Acc		SET domain containing 3							182.0	167.0	172.0					14																	99865060		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865060C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1741G>A	14.37:g.99865060C>T	ENSP00000327436:p.Ala581Thr						p.A581T	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1900	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	581					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1741G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143886	0.37825	.	.	ENSG00000183576	ENST00000331768	T	0.14391	2.51	4.91	3.01	0.34805	.	0.399428	0.27016	N	0.021358	T	0.12263	0.0298	L	0.47716	1.5	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.08229	-1.0732	10	0.30854	T	0.27	-17.9688	10.0496	0.42208	0.0:0.83:0.0:0.17	.	581	Q86TU7	SETD3_HUMAN	T	581	ENSP00000327436:A581T	ENSP00000327436:A581T	A	-	1	0	SETD3	98934813	1.000000	0.71417	0.424000	0.26647	0.866000	0.49608	2.459000	0.45023	0.429000	0.26202	0.561000	0.74099	GCC		0.488	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		35	62	0	0	0	1	0	35	62				
SETX	23064	broad.mit.edu	37	9	135161826	135161826	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135161826G>T	ENST00000224140.5	-	18	6562	c.6380C>A	c.(6379-6381)gCt>gAt	p.A2127D	SETX_ENST00000393220.1_Missense_Mutation_p.A2127D|SETX_ENST00000372169.2_Missense_Mutation_p.A2127D	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2127					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATTTTAGAAGCAAGTTCCTG	0.294																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6379-6381)gCt>gAt		senataxin							77.0	83.0	81.0					9																	135161826		2202	4299	6501	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135161826G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6380C>A	9.37:g.135161826G>T	ENSP00000224140:p.Ala2127Asp					SETX_ENST00000224140.5_Missense_Mutation_p.A2127D|SETX_ENST00000393220.1_Missense_Mutation_p.A2127D	p.A2127D			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	18	6562	-		Myeloproliferative disorder(178;0.204)	2127					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6380C>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189311	0.78789	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.6	5.6	0.85130	.	0.226768	0.38548	N	0.001646	D	0.87989	0.6317	L	0.42632	1.34	0.44309	D	0.997189	P;D;D	0.89917	0.55;1.0;1.0	B;D;D	0.81914	0.381;0.995;0.989	D	0.87919	0.2702	10	0.56958	D	0.05	.	16.6996	0.85345	0.0:0.0:1.0:0.0	.	2127;2127;2127	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	D	2127;369;2127;2127	ENSP00000224140:A2127D;ENSP00000409143:A369D;ENSP00000361242:A2127D;ENSP00000376913:A2127D	ENSP00000224140:A2127D	A	-	2	0	SETX	134151647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.788000	0.95919	0.650000	0.86243	GCT		0.294	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		12	55	1	0	0.0931896	1	0.0936283	12	55				
DNAH1	25981	broad.mit.edu	37	3	52429427	52429427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52429427C>T	ENST00000420323.2	+	69	11333	c.11072C>T	c.(11071-11073)gCc>gTc	p.A3691V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3756					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACAAGTTTGCCGAAGAAATG	0.587																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11071-11073)gCc>gTc		dynein, axonemal, heavy chain 1							46.0	46.0	46.0					3																	52429427		1956	4132	6088	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429427C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11072C>T	3.37:g.52429427C>T	ENSP00000401514:p.Ala3691Val						p.A3691V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	69	11333	+			3756					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11072C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387203	0.95988	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.12984	2.63	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000004	T	0.53981	0.1830	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.994	T	0.72833	-0.4173	10	0.87932	D	0	.	18.1022	0.89509	0.0:1.0:0.0:0.0	.	3691;3756	C9JXH6;Q9P2D7-2	.;.	V	3691;444	ENSP00000401514:A3691V	ENSP00000273600:A444V	A	+	2	0	DNAH1	52404467	1.000000	0.71417	0.966000	0.40874	0.938000	0.57974	5.863000	0.69568	2.263000	0.75096	0.655000	0.94253	GCC		0.587	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	18	0	0	0	1	0	5	18				
LGR5	8549	broad.mit.edu	37	12	71965341	71965341	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71965341G>A	ENST00000266674.5	+	12	1429	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	LGR5_ENST00000536515.1_Missense_Mutation_p.C301Y|LGR5_ENST00000540815.2_Missense_Mutation_p.C349Y			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	373					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTTCAGTCTGCCAAAAGCTT	0.353																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1117-1119)tGc>tAc		leucine-rich repeat containing G protein-coupled receptor 5							97.0	93.0	94.0					12																	71965341		2203	4299	6502	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71965341G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1118G>A	12.37:g.71965341G>A	ENSP00000266674:p.Cys373Tyr					LGR5_ENST00000540815.2_Missense_Mutation_p.C349Y|LGR5_ENST00000536515.1_Missense_Mutation_p.C301Y	p.C373Y			O75473	LGR5_HUMAN			12	1429	+			373					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1118G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.576963	0.65878	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.79317	0.4425	M	0.82193	2.58	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81645	-0.0839	10	0.87932	D	0	.	18.7588	0.91842	0.0:0.0:1.0:0.0	.	349;373	O75473-2;O75473	.;LGR5_HUMAN	Y	373;373;301;349	ENSP00000266674:C373Y;ENSP00000443033:C301Y;ENSP00000441035:C349Y	ENSP00000266674:C373Y	C	+	2	0	LGR5	70251608	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.478000	0.81082	2.697000	0.92050	0.655000	0.94253	TGC		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		16	27	0	0	0	1	0	16	27				
PARP12	64761	broad.mit.edu	37	7	139724415	139724415	+	Missense_Mutation	SNP	G	G	A	rs373376223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139724415G>A	ENST00000263549.3	-	12	2924	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	684	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGGTGTGACCGAGGGCTTGGA	0.562																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(2050-2052)tCg>tTg		poly (ADP-ribose) polymerase family, member 12		G	LEU/SER	0,4406		0,0,2203	147.0	117.0	127.0		2051	-0.6	0.0	7		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PARP12	NM_022750.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	684/702	139724415	1,13005	2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724415G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2051C>T	7.37:g.139724415G>A	ENSP00000263549:p.Ser684Leu						p.S684L	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			12	2924	-	Melanoma(164;0.0142)		684			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.2051C>T	CCDS5857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.55|10.55	1.380375|1.380375	0.24944|0.24944	0.0|0.0	1.16E-4|1.16E-4	ENSG00000059378|ENSG00000059378	ENST00000541746|ENST00000263549	.|T	.|0.06528	.|3.29	4.67|4.67	-0.586|-0.586	0.11694|0.11694	.|Poly(ADP-ribose) polymerase, catalytic domain (1);	.|2.661690	.|0.01447	.|N	.|0.015335	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.06405	.|0.002	T|T	0.37641|0.37641	-0.9697|-0.9697	6|10	0.42905|0.28530	T|T	0.14|0.3	.|.	4.5723|4.5723	0.12216|0.12216	0.425:0.0:0.4305:0.1445|0.425:0.0:0.4305:0.1445	.|.	.|684	.|Q9H0J9	.|PAR12_HUMAN	W|L	68|684	.|ENSP00000263549:S684L	ENSP00000445106:R68W|ENSP00000263549:S684L	R|S	-|-	1|2	2|0	PARP12|PARP12	139370884|139370884	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-1.087000|-1.087000	0.03383|0.03383	-0.372000|-0.372000	0.07992|0.07992	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.562	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		4	24	0	0	0	1	0	4	24				
NBPF3	84224	broad.mit.edu	37	1	21795389	21795389	+	Splice_Site	SNP	C	C	T	rs545088239		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21795389C>T	ENST00000318249.5	+	3	692	c.342C>T	c.(340-342)taC>taT	p.Y114Y	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318220.6_Splice_Site_p.Y58Y|NBPF3_ENST00000342104.5_Splice_Site_p.Y114Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	114			Y -> C (in dbSNP:rs1827293). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAATAATTACGGTAAGTTCT	0.443											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.e6+1		neuroblastoma breakpoint family, member 3							48.0	53.0	51.0					1																	21795389		2203	4300	6503	SO:0001630	splice_region_variant	84224					cytoplasm		g.chr1:21795389C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.343+1C>T	1.37:g.21795389C>T			OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Splice_Site_p.Y114_splice|NBPF3_ENST00000342104.5_Splice_Site_p.Y114_splice	p.Y58_splice			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1222	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	114					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Splice_Site	SNP	ENST00000318249.5	37	c.175_splice	CCDS216.1																																																																																				0.443	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264	Silent	19	35	0	0	0	1	0	19	35				
SLC5A5	6528	broad.mit.edu	37	19	17988624	17988624	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17988624C>T	ENST00000222248.3	+	6	1138	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGAACCAGGCGCAGGTGCAG	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(790-792)gCg>gTg		solute carrier family 5 (sodium/iodide cotransporter), member 5							156.0	129.0	138.0					19																	17988624		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988624C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.791C>T	19.37:g.17988624C>T	ENSP00000222248:p.Ala264Val						p.A264V	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			6	1138	+			264					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.791C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676509	0.88445	.	.	ENSG00000105641	ENST00000222248	D	0.86097	-2.07	5.3	5.3	0.74995	.	0.111025	0.64402	D	0.000013	D	0.83658	0.5302	L	0.42581	1.335	0.80722	D	1	P	0.47253	0.892	P	0.45681	0.49	D	0.84137	0.0415	10	0.45353	T	0.12	.	16.867	0.86032	0.0:1.0:0.0:0.0	.	264	Q92911	SC5A5_HUMAN	V	264	ENSP00000222248:A264V	ENSP00000222248:A264V	A	+	2	0	SLC5A5	17849624	1.000000	0.71417	0.976000	0.42696	0.417000	0.31264	7.623000	0.83113	2.675000	0.91044	0.555000	0.69702	GCG		0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			16	35	0	0	0	1	0	16	35				
PSCA	8000	broad.mit.edu	37	8	143762788	143762788	+	Silent	SNP	C	C	T	rs587715539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143762788C>T	ENST00000301258.4	+	2	152	c.69C>T	c.(67-69)aaC>aaT	p.N23N	PSCA_ENST00000513264.1_Silent_p.N23N|PSCA_ENST00000505305.1_3'UTR	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	32	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGTGAGCAACGAGGACTGCC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16597	0.001		0.0	False		,,,				2504	0.0					ENST00000301258.4																			0				endometrium(1)|large_intestine(1)	2						c.(67-69)aaC>aaT		prostate stem cell antigen							16.0	20.0	18.0					8																	143762788		2063	4200	6263	SO:0001819	synonymous_variant	8000							g.chr8:143762788C>T	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.69C>T	8.37:g.143762788C>T						PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Silent_p.N23N	p.N23N	NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN			2	152	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		23					Q6UW92	Silent	SNP	ENST00000301258.4	37	c.69C>T	CCDS47925.2																																																																																				0.667	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		5	7	0	0	0	1	0	5	7				
ZNF804A	91752	broad.mit.edu	37	2	185803109	185803109	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:185803109T>C	ENST00000302277.6	+	4	3580	c.2986T>C	c.(2986-2988)Tca>Cca	p.S996P		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	996							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCGTTATAATTCAGGAATCCT	0.433																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2986-2988)Tca>Cca		zinc finger protein 804A							106.0	99.0	101.0					2																	185803109		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803109T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2986T>C	2.37:g.185803109T>C	ENSP00000303252:p.Ser996Pro						p.S996P	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3580	+			996					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2986T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702794	0.48307	.	.	ENSG00000170396	ENST00000302277	T	0.06849	3.25	5.14	2.71	0.32032	.	0.178558	0.27155	N	0.020680	T	0.08670	0.0215	L	0.57536	1.79	0.30996	N	0.720888	B	0.14012	0.009	B	0.15052	0.012	T	0.09271	-1.0682	10	0.37606	T	0.19	-4.1302	6.0467	0.19764	0.0:0.1516:0.1385:0.7099	.	996	Q7Z570	Z804A_HUMAN	P	996	ENSP00000303252:S996P	ENSP00000303252:S996P	S	+	1	0	ZNF804A	185511354	0.987000	0.35691	0.962000	0.40283	0.782000	0.44232	0.703000	0.25646	0.269000	0.21961	0.383000	0.25322	TCA		0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		46	61	0	0	0	1	0	46	61				
EPPK1	83481	broad.mit.edu	37	8	144940801	144940801	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144940801C>T	ENST00000525985.1	-	2	6692	c.6621G>A	c.(6619-6621)acG>acA	p.T2207T				P58107	EPIPL_HUMAN	epiplakin 1	2207						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTCTTGCGTCGTGCTCC	0.622																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6619-6621)acG>acA		epiplakin 1							161.0	167.0	165.0					8																	144940801		2042	4179	6221	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940801C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6621G>A	8.37:g.144940801C>T							p.T2207T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6692	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2207					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6621G>A																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		16	129	0	0	0	1	0	16	129				
MRC2	9902	broad.mit.edu	37	17	60749095	60749095	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60749095C>T	ENST00000303375.5	+	7	1605	c.1203C>T	c.(1201-1203)cgC>cgT	p.R401R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	401	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCGAGAAGCGCAGCTGGCAGG	0.627																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1201-1203)cgC>cgT		mannose receptor, C type 2							54.0	50.0	51.0					17																	60749095		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749095C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1203C>T	17.37:g.60749095C>T							p.R401R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			7	1605	+			401			C-type lectin 2.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1203C>T	CCDS11634.1																																																																																				0.627	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			6	18	0	0	0	1	0	6	18				
SLC25A16	8034	broad.mit.edu	37	10	70276515	70276515	+	Silent	SNP	C	C	T	rs144747524		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70276515C>T	ENST00000609923.1	-	2	314	c.216G>A	c.(214-216)aaG>aaA	p.K72K	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	72					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CACCTAAATGCTTGTAATGGT	0.333																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(214-216)aaG>aaA		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16		C		2,4404	4.2+/-10.8	0,2,2201	122.0	113.0	116.0		216	0.0	1.0	10	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	SLC25A16	NM_152707.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		72/333	70276515	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70276515C>T	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.216G>A	10.37:g.70276515C>T						SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_5'UTR	p.K72K	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			2	314	-			72					Q8N2U1	Silent	SNP	ENST00000609923.1	37	c.216G>A	CCDS7280.1																																																																																				0.333	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			12	20	0	0	0	1	0	12	20				
MLKL	197259	broad.mit.edu	37	16	74708871	74708871	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74708871C>T	ENST00000308807.7	-	10	1831	c.1368G>A	c.(1366-1368)cgG>cgA	p.R456R	MLKL_ENST00000306247.7_Silent_p.R248R	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCACAGAGGGCCGCACAGAGG	0.547																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1366-1368)cgG>cgA		mixed lineage kinase domain-like							54.0	54.0	54.0					16																	74708871		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74708871C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1368G>A	16.37:g.74708871C>T						MLKL_ENST00000306247.7_Silent_p.R248R	p.R456R	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			10	1831	-			456			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.1368G>A	CCDS32487.1																																																																																				0.547	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		9	19	0	0	0	1	0	9	19				
OPCML	4978	broad.mit.edu	37	11	132306038	132306038	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132306038G>A	ENST00000331898.7	-	6	1457	c.879C>T	c.(877-879)aaC>aaT	p.N293N	OPCML_ENST00000374778.4_Silent_p.N252N|OPCML_ENST00000541867.1_Silent_p.N293N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N286N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	293	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACAAGTATAGTTCCCATAAT	0.488																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(877-879)aaC>aaT		opioid binding protein/cell adhesion molecule-like							147.0	129.0	136.0					11																	132306038		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306038G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.879C>T	11.37:g.132306038G>A						OPCML_ENST00000524381.1_Silent_p.N286N|OPCML_ENST00000541867.1_Silent_p.N293N|OPCML_ENST00000374778.4_Silent_p.N252N|OPCML_ENST00000529038.1_5'UTR	p.N293N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1457	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	293			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.879C>T	CCDS8492.1																																																																																				0.488	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		23	34	0	0	0	1	0	23	34				
TCF19	6941	broad.mit.edu	37	6	31129716	31129716	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31129716C>T	ENST00000376257.3	+	3	1485	c.731C>T	c.(730-732)cCg>cTg	p.P244L	TCF19_ENST00000376255.4_Missense_Mutation_p.P244L|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	244	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCTGAGAACCCGCCACCGGTC	0.567																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(730-732)cCg>cTg		transcription factor 19							52.0	59.0	57.0					6																	31129716		1247	2549	3796	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129716C>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.731C>T	6.37:g.31129716C>T	ENSP00000365433:p.Pro244Leu					TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.P244L	p.P244L	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			3	1485	+			244			Pro-rich.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.731C>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698893	0.30142	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.22539	1.99;1.99;1.95	5.49	3.69	0.42338	.	0.641630	0.16620	N	0.206513	T	0.04952	0.0133	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.34650	-0.9820	10	0.38643	T	0.18	-48.2197	7.0356	0.24991	0.1709:0.7408:0.0:0.0883	.	244	Q9Y242	TCF19_HUMAN	L	244;244;164	ENSP00000365433:P244L;ENSP00000365431:P244L;ENSP00000439397:P164L	ENSP00000365431:P244L	P	+	2	0	TCF19	31237695	0.006000	0.16342	0.001000	0.08648	0.053000	0.15095	-0.017000	0.12590	0.670000	0.31165	-0.183000	0.12914	CCG		0.567	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		19	22	0	0	0	1	0	19	22				
RAD18	56852	broad.mit.edu	37	3	8988943	8988943	+	Missense_Mutation	SNP	C	C	T	rs377707311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:8988943C>T	ENST00000264926.2	-	4	343	c.227G>A	c.(226-228)cGc>cAc	p.R76H	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	76					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATCTAATATGCGGTTATTTTT	0.323								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(226-228)cGc>cAc	Rad6 pathway	RAD18 homolog (S. cerevisiae)		C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	204.0	214.0	210.0		227	5.0	1.0	3		210	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAD18	NM_020165.3	29	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	76/496	8988943	2,13002	2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8988943C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.227G>A	3.37:g.8988943C>T	ENSP00000264926:p.Arg76His					RAD18_ENST00000495087.1_5'UTR	p.R76H	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	4	343	-			76					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.227G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432240	0.83776	2.27E-4	1.16E-4	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17370	2.28;2.28	5.88	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.74258	2.255	0.51012	D	0.999905	P	0.52692	0.955	P	0.55749	0.783	T	0.01839	-1.1263	10	0.16420	T	0.52	-12.6025	9.9528	0.41649	0.0:0.9105:0.0:0.0895	.	76	Q9NS91	RAD18_HUMAN	H	76	ENSP00000264926:R76H;ENSP00000412261:R76H	ENSP00000264926:R76H	R	-	2	0	RAD18	8963943	0.992000	0.36948	0.967000	0.41034	0.970000	0.65996	3.264000	0.51553	2.797000	0.96272	0.561000	0.74099	CGC		0.323	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		35	62	0	0	0	1	0	35	62				
TRAF7	84231	broad.mit.edu	37	16	2223318	2223318	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2223318G>T	ENST00000326181.6	+	10	1062	c.930G>T	c.(928-930)caG>caT	p.Q310H		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	310					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGAAGGACCAGGAGATCGCCT	0.612																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(928-930)caG>caT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							80.0	67.0	72.0					16																	2223318		2198	4300	6498	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223318G>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.930G>T	16.37:g.2223318G>T	ENSP00000318944:p.Gln310His						p.Q310H	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			10	1062	+			310					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.930G>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928090	0.34002	.	.	ENSG00000131653	ENST00000326181	T	0.24908	1.83	4.6	3.57	0.40892	TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.03493	-1.1031	10	0.51188	T	0.08	-29.3821	12.1509	0.54050	0.0977:0.0:0.9023:0.0	.	310	Q6Q0C0	TRAF7_HUMAN	H	310	ENSP00000318944:Q310H	ENSP00000318944:Q310H	Q	+	3	2	TRAF7	2163319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.363000	0.80096	0.561000	0.74099	CAG		0.612	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		7	15	1	0	6.5536e-12	1	7.07361e-12	7	15				
DIRC2	84925	broad.mit.edu	37	3	122552256	122552256	+	Missense_Mutation	SNP	C	C	T	rs537988432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:122552256C>T	ENST00000261038.5	+	4	1194	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	266					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		AGCTAGCCAGCGGCTGAGTTA	0.433																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(796-798)Cgg>Tgg		disrupted in renal carcinoma 2							100.0	105.0	103.0					3																	122552256		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122552256C>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.796C>T	3.37:g.122552256C>T	ENSP00000261038:p.Arg266Trp						p.R266W	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	4	1194	+			266					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.796C>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494843	0.64186	.	.	ENSG00000138463	ENST00000261038	T	0.60040	0.22	5.16	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);	0.106561	0.64402	D	0.000008	T	0.73385	0.3580	M	0.75615	2.305	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.75382	-0.3337	10	0.87932	D	0	.	13.3451	0.60569	0.4134:0.5866:0.0:0.0	.	266	Q96SL1	DIRC2_HUMAN	W	266	ENSP00000261038:R266W	ENSP00000261038:R266W	R	+	1	2	DIRC2	124034946	0.992000	0.36948	0.997000	0.53966	0.810000	0.45777	0.190000	0.17057	0.281000	0.22233	-0.188000	0.12872	CGG		0.433	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		45	70	0	0	0	1	0	45	70				
ACAD10	80724	broad.mit.edu	37	12	112182470	112182470	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112182470G>A	ENST00000313698.4	+	13	1893	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	ACAD10_ENST00000392636.2_Missense_Mutation_p.E182K|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.E611K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E580K	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	580						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CACATATGCGGAACAAACTGG	0.463																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1831-1833)Gaa>Aaa		acyl-CoA dehydrogenase family, member 10							96.0	97.0	97.0					12																	112182470		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182470G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1738G>A	12.37:g.112182470G>A	ENSP00000325137:p.Glu580Lys					ACAD10_ENST00000313698.4_Missense_Mutation_p.E580K|ACAD10_ENST00000549590.1_Missense_Mutation_p.E580K|ACAD10_ENST00000392636.2_Missense_Mutation_p.E182K|ACAD10_ENST00000413681.3_3'UTR	p.E611K	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2008	+			580					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1831G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	5.001	0.185898	0.09495	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000507683	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.74	2.86	0.33363	.	0.719570	0.13128	N	0.411700	T	0.12518	0.0304	N	0.12422	0.21	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.36114	-0.9761	10	0.06494	T	0.89	.	3.61	0.08057	0.147:0.1325:0.5836:0.1368	.	611;580;580	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	K	182;580;580;611;580;161	ENSP00000376411:E182K;ENSP00000446959:E580K;ENSP00000389813:E611K;ENSP00000325137:E580K	ENSP00000325137:E580K	E	+	1	0	ACAD10	110666853	0.009000	0.17119	0.004000	0.12327	0.183000	0.23260	0.850000	0.27737	0.328000	0.23435	0.655000	0.94253	GAA		0.463	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		31	53	0	0	0	1	0	31	53				
RTN4	57142	broad.mit.edu	37	2	55254135	55254135	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55254135T>A	ENST00000337526.6	-	3	1343	c.1100A>T	c.(1099-1101)gAc>gTc	p.D367V	RTN4_ENST00000404909.1_Missense_Mutation_p.D161V|RTN4_ENST00000405240.1_Missense_Mutation_p.D161V|RTN4_ENST00000357376.3_Missense_Mutation_p.D161V|RTN4_ENST00000354474.6_Missense_Mutation_p.D135V|RTN4_ENST00000394611.2_Missense_Mutation_p.D161V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	367					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATTAAAACTGTCTTTTGCTTT	0.363																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1099-1101)gAc>gTc		reticulon 4							128.0	128.0	128.0					2																	55254135		2203	4299	6502	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254135T>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1100A>T	2.37:g.55254135T>A	ENSP00000337838:p.Asp367Val					RTN4_ENST00000394611.2_Missense_Mutation_p.D161V|RTN4_ENST00000405240.1_Missense_Mutation_p.D161V|RTN4_ENST00000404909.1_Missense_Mutation_p.D161V|RTN4_ENST00000357376.3_Missense_Mutation_p.D161V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D135V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron	p.D367V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1343	-			367					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1100A>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951237	0.34471	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.25085	1.82;1.82;2.3;1.82;1.82;1.85	5.99	2.29	0.28610	.	1.825090	0.01954	N	0.042843	T	0.47040	0.1424	L	0.60455	1.87	0.09310	N	0.999998	D	0.89917	1.0	D	0.69307	0.963	T	0.04281	-1.0963	10	0.87932	D	0	-3.5154	5.9641	0.19315	0.0:0.263:0.1259:0.6111	.	367	Q9NQC3	RTN4_HUMAN	V	161;161;367;161;161;135	ENSP00000384471:D161V;ENSP00000349944:D161V;ENSP00000337838:D367V;ENSP00000378109:D161V;ENSP00000385650:D161V;ENSP00000346465:D135V	ENSP00000337838:D367V	D	-	2	0	RTN4	55107639	0.006000	0.16342	0.706000	0.30403	0.605000	0.37080	1.135000	0.31454	0.156000	0.19299	0.528000	0.53228	GAC		0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			31	46	0	0	0	1	0	31	46				
ENTPD1	953	broad.mit.edu	37	10	97607363	97607363	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97607363G>A	ENST00000371205.4	+	7	1257	c.974G>A	c.(973-975)tGc>tAc	p.C325Y	ENTPD1_ENST00000539125.1_Missense_Mutation_p.C187Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C217Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C332Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.C187Y|ENTPD1_ENST00000371207.3_Missense_Mutation_p.C337Y			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	325					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TATCAACAATGCCATCAAAGC	0.473																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(559-561)tGc>tAc		ectonucleoside triphosphate diphosphohydrolase 1							120.0	118.0	119.0					10																	97607363		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607363G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.974G>A	10.37:g.97607363G>A	ENSP00000360248:p.Cys325Tyr					ENTPD1_ENST00000371207.3_Missense_Mutation_p.C337Y|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C332Y|ENTPD1_ENST00000371205.4_Missense_Mutation_p.C325Y|ENTPD1_ENST00000539125.1_Missense_Mutation_p.C187Y|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C217Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	p.C187Y	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	6	1147	+		Colorectal(252;0.0821)	325					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.560G>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733029	0.69189	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	H	0.95982	3.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86906	0.2057	10	0.87932	D	0	-27.074	17.8363	0.88699	0.0:0.0:1.0:0.0	.	337;337;332;325	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	Y	332;337;217;187;187;325	ENSP00000390955:C332Y;ENSP00000360250:C337Y;ENSP00000442968:C217Y;ENSP00000440027:C187Y;ENSP00000360246:C187Y;ENSP00000360248:C325Y	ENSP00000360246:C187Y	C	+	2	0	ENTPD1	97597353	1.000000	0.71417	0.411000	0.26484	0.362000	0.29581	8.907000	0.92634	2.890000	0.99128	0.650000	0.86243	TGC		0.473	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		40	57	0	0	0	1	0	40	57				
PRPF8	10594	broad.mit.edu	37	17	1577960	1577960	+	Silent	SNP	C	C	T	rs199743069		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1577960C>T	ENST00000572621.1	-	20	3340	c.3075G>A	c.(3073-3075)acG>acA	p.T1025T	PRPF8_ENST00000304992.6_Silent_p.T1025T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1025	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATATGAATTCGTATGGTTCA	0.458																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3073-3075)acG>acA		pre-mRNA processing factor 8							161.0	159.0	160.0					17																	1577960		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577960C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3075G>A	17.37:g.1577960C>T						PRPF8_ENST00000304992.6_Silent_p.T1025T	p.T1025T			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	20	3340	-			1025					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3075G>A	CCDS11010.1																																																																																				0.458	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			27	139	0	0	0	1	0	27	139				
KIAA1468	57614	broad.mit.edu	37	18	59949646	59949646	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59949646C>T	ENST00000398130.2	+	25	3454	c.3222C>T	c.(3220-3222)ggC>ggT	p.G1074G	KIAA1468_ENST00000256858.6_Silent_p.G1108G	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1074										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTAGAGTTGGCCCTAACGCAG	0.408																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3322-3324)ggC>ggT		KIAA1468							168.0	162.0	164.0					18																	59949646		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59949646C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3222C>T	18.37:g.59949646C>T						KIAA1468_ENST00000398130.2_Silent_p.G1074G	p.G1108G			Q9P260	K1468_HUMAN			26	3572	+		Colorectal(73;0.186)	1074						Silent	SNP	ENST00000398130.2	37	c.3324C>T	CCDS11979.2																																																																																				0.408	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		5	109	0	0	0	1	0	5	109				
PCDHB5	26167	broad.mit.edu	37	5	140516633	140516633	+	Silent	SNP	G	G	A	rs61745767	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140516633G>A	ENST00000231134.5	+	1	1834	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.692																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1615-1617)gcG>gcA									38.0	43.0	42.0					5																	140516633		2201	4299	6500	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516633G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1617G>A	5.37:g.140516633G>A							p.A539A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1834	+			539			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1617G>A	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		21	32	0	0	0	1	0	21	32				
TIMP4	7079	broad.mit.edu	37	3	12203621	12203621	+	5'Flank	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12203621T>C	ENST00000287814.4	-	0	0				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GACATCCGGGTCCAGAAGATT	0.502																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							75.0	78.0	77.0					3																	12203621		2175	4292	6467	SO:0001631	upstream_gene_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12203621T>C	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12203621T>C	Exception_encountered									Q86VA8	Q86VA8_HUMAN			0	1119	+								B2R7K6	RNA	SNP	ENST00000287814.4	37		CCDS2608.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807670	0.50421	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.95	4.95	0.65309	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.134464	0.51477	D	0.000085	T	0.58509	0.2127	M	0.68317	2.08	0.29056	N	0.8842	P;P	0.49358	0.894;0.923	P;P	0.51742	0.678;0.645	T	0.61907	-0.6966	9	0.87932	D	0	-17.6613	14.8101	0.69989	0.0:0.0:0.0:1.0	.	316;316	Q92777;Q92777-2	SYN2_HUMAN;.	A	248	.	ENSP00000442512:V248A	V	+	2	0	SYN2	12178621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.084000	0.62774	0.533000	0.62120	GTC		0.502	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		8	17	0	0	0	1	0	8	17				
ASB1	51665	broad.mit.edu	37	2	239344527	239344527	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344527C>T	ENST00000264607.4	+	3	614	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	123					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGTGAACGGGCACCTAGAGAG	0.637																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(367-369)Cac>Tac		ankyrin repeat and SOCS box containing 1							63.0	56.0	58.0					2																	239344527		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344527C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.367C>T	2.37:g.239344527C>T	ENSP00000264607:p.His123Tyr					ASB1_ENST00000409297.1_Intron	p.H123Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	614	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	123					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.367C>T	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808170	0.90707	.	.	ENSG00000065802	ENST00000264607	T	0.67698	-0.28	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.047237	0.85682	D	0.000000	T	0.80449	0.4625	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79780	-0.1659	10	0.51188	T	0.08	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	123	Q9Y576	ASB1_HUMAN	Y	123	ENSP00000264607:H123Y	ENSP00000264607:H123Y	H	+	1	0	ASB1	239009266	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.051000	0.76627	2.629000	0.89072	0.650000	0.86243	CAC		0.637	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		5	18	0	0	0	1	0	5	18				
RYR3	6263	broad.mit.edu	37	15	34130097	34130097	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34130097C>T	ENST00000389232.4	+	89	11986	c.11916C>T	c.(11914-11916)gaC>gaT	p.D3972D	RYR3_ENST00000415757.3_Silent_p.D3967D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3972					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGAGAATGACATGTTTAATT	0.428																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11914-11916)gaC>gaT		ryanodine receptor 3							139.0	138.0	139.0					15																	34130097		1963	4146	6109	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130097C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11916C>T	15.37:g.34130097C>T						RYR3_ENST00000415757.3_Silent_p.D3967D	p.D3972D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11986	+		all_lung(180;7.18e-09)	3972					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11916C>T	CCDS45210.1																																																																																				0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	53	0	0	0	1	0	37	53				
SLC40A1	30061	broad.mit.edu	37	2	190445173	190445173	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190445173C>T	ENST00000261024.2	-	1	440	c.14G>A	c.(13-15)gGa>gAa	p.G5E	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	5					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTTGTGATCTCCCGCCCTGGT	0.572																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(13-15)gGa>gAa		solute carrier family 40 (iron-regulated transporter), member 1							111.0	95.0	101.0					2																	190445173		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190445173C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.14G>A	2.37:g.190445173C>T	ENSP00000261024:p.Gly5Glu					SLC40A1_ENST00000418714.1_5'UTR	p.G5E	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		1	440	-			5					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.14G>A	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626432	0.66901	.	.	ENSG00000138449	ENST00000261024;ENST00000481497;ENST00000427241;ENST00000455320;ENST00000427419;ENST00000440626	D;D	0.97811	-2.95;-4.55	4.95	1.97	0.26223	Major facilitator superfamily domain, general substrate transporter (1);	0.828672	0.11188	N	0.590235	D	0.94820	0.8327	L	0.56769	1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.86133	0.1576	10	0.17832	T	0.49	-0.1156	5.5862	0.17275	0.0:0.6524:0.0:0.3476	.	5;5	A8K7Y1;Q9NP59	.;S40A1_HUMAN	E	5;79;5;5;5;5	ENSP00000261024:G5E;ENSP00000390005:G5E	ENSP00000261024:G5E	G	-	2	0	SLC40A1	190153418	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	0.523000	0.22925	0.689000	0.31550	0.555000	0.69702	GGA		0.572	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			15	31	0	0	0	1	0	15	31				
FRMPD3	84443	broad.mit.edu	37	X	106844139	106844139	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:106844139C>T	ENST00000276185.4	+	16	2969	c.2969C>T	c.(2968-2970)tCg>tTg	p.S990L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	990						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCCATCATCTCGGCCGCCCTA	0.602																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2968-2970)tCg>tTg		FERM and PDZ domain containing 3							31.0	28.0	29.0					X																	106844139		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106844139C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2969C>T	X.37:g.106844139C>T	ENSP00000276185:p.Ser990Leu						p.S990L			Q5JV73	FRPD3_HUMAN			16	2969	+			990					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.2969C>T		.	.	.	.	.	.	.	.	.	.	C	16.14	3.039973	0.55003	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.20200	2.09;2.14	4.61	4.61	0.57282	.	0.452591	0.21971	N	0.066452	T	0.21718	0.0523	N	0.24115	0.695	0.29725	N	0.838305	.	.	.	.	.	.	T	0.08889	-1.0700	8	0.72032	D	0.01	.	13.688	0.62529	0.0:1.0:0.0:0.0	.	.	.	.	L	990;938	ENSP00000276185:S990L;ENSP00000398668:S938L	ENSP00000276185:S990L	S	+	2	0	FRMPD3	106730795	0.995000	0.38212	0.906000	0.35671	0.389000	0.30415	3.621000	0.54210	2.123000	0.65237	0.429000	0.28392	TCG		0.602	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		12	1	0	0	0	1	0	12	1				
ABHD14A	25864	broad.mit.edu	37	3	52011973	52011973	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52011973G>A	ENST00000273596.3	+	2	224	c.156G>A	c.(154-156)ctG>ctA	p.L52L	ACY1_ENST00000458031.2_Missense_Mutation_p.C4Y|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Silent_p.L52L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L52L	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	52						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGGGGCTGCCAGGCCCCC	0.627																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(10-12)tGc>tAc		aminoacylase 1	L-Aspartic Acid(DB00128)						65.0	70.0	68.0					3																	52011973		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52011973G>A	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.156G>A	3.37:g.52011973G>A						ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000273596.3_Silent_p.L52L|ABHD14A-ACY1_ENST00000463937.1_Silent_p.L52L|ABHD14A_ENST00000491470.1_Silent_p.L52L	p.C4Y			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	242	+			0					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.11G>A	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097177	0.20552	.	.	ENSG00000114786	ENST00000458031	T	0.76448	-1.02	5.93	-0.336	0.12658	.	.	.	.	.	T	0.64811	0.2632	.	.	.	0.35016	D	0.757333	B	0.06786	0.001	B	0.08055	0.003	T	0.59316	-0.7477	8	0.87932	D	0	-6.972	5.385	0.16213	0.4138:0.136:0.4503:0.0	.	4	B4DNW0	.	Y	4	ENSP00000390557:C4Y	ENSP00000390557:C4Y	C	+	2	0	RP11-155D18.11	51987013	0.976000	0.34144	0.006000	0.13384	0.209000	0.24338	-0.107000	0.10873	-0.103000	0.12175	-0.140000	0.14226	TGC		0.627	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		30	31	0	0	0	1	0	30	31				
PLEKHG2	64857	broad.mit.edu	37	19	39911459	39911459	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39911459G>A	ENST00000409794.3	+	13	2216	c.1366G>A	c.(1366-1368)Gct>Act	p.A456T	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.A456T|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A397T|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.A456T|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.A456T	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	456					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTCGAGATGCTAGAAGTTT	0.602																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1366-1368)Gct>Act		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							67.0	73.0	71.0					19																	39911459		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39911459G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1366G>A	19.37:g.39911459G>A	ENSP00000386733:p.Ala456Thr					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.A456T|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.A456T|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.A456T|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A397T	p.A456T			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1691	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		456					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1366G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.952182|2.952182	0.53293|0.53293	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	T;T;T;T;T|.	0.71341|.	-0.3;-0.27;-0.56;-0.43;-0.56|.	4.65|4.65	3.62|3.62	0.41486|0.41486	.|.	0.231613|.	0.27473|.	N|.	0.019210|.	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.36672|0.36672	1.1|1.1	0.29692|0.29692	N|N	0.84084|0.84084	B;B;B;B|.	0.17852|.	0.024;0.012;0.017;0.001|.	B;B;B;B|.	0.15052|.	0.01;0.012;0.009;0.005|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.13853|.	T|.	0.58|.	.|.	8.4163|8.4163	0.32672|0.32672	0.106:0.0:0.894:0.0|0.106:0.0:0.894:0.0	.|.	456;456;397;456|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	T|I	456;456;456;397;456|352	ENSP00000386733:A456T;ENSP00000392906:A456T;ENSP00000367812:A456T;ENSP00000408857:A397T;ENSP00000386492:A456T|.	ENSP00000367812:A456T|.	A|M	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44603299|44603299	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.842000|1.842000	0.39250|0.39250	1.177000|1.177000	0.42855|0.42855	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.602	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	70	0	0	0	1	0	4	70				
PCLO	27445	broad.mit.edu	37	7	82544757	82544757	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82544757G>A	ENST00000333891.9	-	7	12882	c.12545C>T	c.(12544-12546)gCc>gTc	p.A4182V	PCLO_ENST00000437081.1_Missense_Mutation_p.A902V|PCLO_ENST00000423517.2_Missense_Mutation_p.A4182V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAAGTATGGCTGCTGGCAG	0.363																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12544-12546)gCc>gTc		piccolo presynaptic cytomatrix protein							93.0	88.0	89.0					7																	82544757		1876	4111	5987	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544757G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12545C>T	7.37:g.82544757G>A	ENSP00000334319:p.Ala4182Val					PCLO_ENST00000333891.8_Missense_Mutation_p.A4182V|PCLO_ENST00000437081.1_Missense_Mutation_p.A902V	p.A4182V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12882	-			4113						Missense_Mutation	SNP	ENST00000333891.9	37	c.12545C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910828	0.72983	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.38560	1.13;1.15	5.49	5.49	0.81192	.	.	.	.	.	T	0.65913	0.2737	M	0.71036	2.16	0.58432	D	0.999995	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.74674	0.877;0.984;0.984	T	0.68507	-0.5390	9	0.87932	D	0	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	4113;4182;4182	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	4182;4182;902	ENSP00000334319:A4182V;ENSP00000388393:A4182V	ENSP00000334319:A4182V	A	-	2	0	PCLO	82382693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.865000	0.99609	2.592000	0.87571	0.454000	0.30748	GCC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	54	0	0	0	1	0	5	54				
KIAA0586	9786	broad.mit.edu	37	14	58965579	58965579	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58965579G>A	ENST00000556134.1	+	28	4298	c.4024G>A	c.(4024-4026)Gga>Aga	p.G1342R	KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1410R|KIAA0586_ENST00000423743.3_Missense_Mutation_p.G1313R|KIAA0586_ENST00000261244.5_Missense_Mutation_p.G1281R|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1342					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATCTTAATGGGACATTCTCT	0.423																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3937-3939)Gga>Aga		KIAA0586							82.0	76.0	78.0					14																	58965579		1899	4132	6031	SO:0001583	missense	9786							g.chr14:58965579G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4024G>A	14.37:g.58965579G>A	ENSP00000452351:p.Gly1342Arg					KIAA0586_ENST00000556134.1_Missense_Mutation_p.G1342R|KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1410R|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.G1281R	p.G1313R	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			28	4195	+			1281					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.3937G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099890	0.56183	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000555397	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.89	3.04	0.35103	.	0.088235	0.47852	D	0.000216	T	0.64843	0.2635	.	.	.	0.33405	D	0.577807	B;D;D;B;B	0.76494	0.105;0.998;0.999;0.18;0.18	B;D;D;B;B	0.72075	0.092;0.954;0.976;0.13;0.13	T	0.75542	-0.3281	9	0.72032	D	0.01	.	10.9376	0.47253	0.1574:0.0:0.8426:0.0	.	1217;1410;1281;1342;1313	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	R	1410;1342;1313;1281;39	ENSP00000346359:G1410R;ENSP00000452351:G1342R;ENSP00000399427:G1313R;ENSP00000261244:G1281R;ENSP00000451356:G39R	ENSP00000261244:G1281R	G	+	1	0	KIAA0586	58035332	1.000000	0.71417	0.025000	0.17156	0.006000	0.05464	2.421000	0.44688	1.052000	0.40392	0.591000	0.81541	GGA		0.423	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		12	17	0	0	0	1	0	12	17				
BSCL2	26580	broad.mit.edu	37	11	62458343	62458343	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62458343C>T	ENST00000403550.1	-	9	1304				BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Intron|BSCL2_ENST00000407022.3_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000405837.1_Missense_Mutation_p.A359T|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Intron|BSCL2_ENST00000433053.1_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)						cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TCAGGCCCTGCACCTCCAAAG	0.587																																						ENST00000405837.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(1075-1077)Gca>Aca		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							57.0	51.0	53.0					11																	62458343		2202	4299	6501	SO:0001627	intron_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458343C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.881-4G>A	11.37:g.62458343C>T						BSCL2_ENST00000407022.3_Intron|BSCL2_ENST00000421906.1_Intron|RP11-831H9.16_ENST00000403734.2_Intron|BSCL2_ENST00000403550.1_Intron|BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000360796.5_Intron|BSCL2_ENST00000278893.7_Intron	p.A359T			Q96G97	BSCL2_HUMAN			10	1571	-			293					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.1075G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	4.453	0.083878	0.08583	.	.	ENSG00000168000	ENST00000405837	D	0.88586	-2.4	3.28	-3.49	0.04724	.	0.286262	0.20563	N	0.089875	T	0.79907	0.4527	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	T	0.69202	-0.5207	6	.	.	.	.	4.7725	0.13162	0.1844:0.5524:0.0:0.2632	.	.	.	.	T	359	ENSP00000385332:A359T	.	A	-	1	0	BSCL2	62214919	0.000000	0.05858	0.003000	0.11579	0.158000	0.22134	-0.598000	0.05706	-0.662000	0.05338	-0.415000	0.06103	GCA		0.587	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		9	11	0	0	0	1	0	9	11				
CTSW	1521	broad.mit.edu	37	11	65650136	65650136	+	Missense_Mutation	SNP	G	G	A	rs533711333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65650136G>A	ENST00000307886.3	+	6	641	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	CTSW_ENST00000528419.1_Missense_Mutation_p.A199T	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	199					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CGTCTGGGACGCGTTCATAAC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13948	0.0		0.0	False		,,,				2504	0.0					ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(595-597)Gcg>Acg		cathepsin W							96.0	80.0	85.0					11																	65650136		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650136G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.595G>A	11.37:g.65650136G>A	ENSP00000311300:p.Ala199Thr					CTSW_ENST00000307886.3_Missense_Mutation_p.A199T	p.A199T			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	6	599	+			199					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.595G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540300	0.65085	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	D;D	0.91464	-2.85;-2.85	5.6	5.6	0.85130	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000002	D	0.94241	0.8151	M	0.67953	2.075	0.47949	D	0.99955	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	D	0.93161	0.6558	10	0.37606	T	0.19	.	15.109	0.72340	0.0:0.0:1.0:0.0	.	199;199	P56202;E9PI30	CATW_HUMAN;.	T	199	ENSP00000311300:A199T;ENSP00000436568:A199T	ENSP00000311300:A199T	A	+	1	0	CTSW	65406712	0.778000	0.28640	0.738000	0.30950	0.105000	0.19272	3.340000	0.52143	2.633000	0.89246	0.591000	0.81541	GCG		0.627	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		8	34	0	0	0	1	0	8	34				
ZBTB7B	51043	broad.mit.edu	37	1	154987273	154987273	+	Missense_Mutation	SNP	G	G	A	rs140676784		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154987273G>A	ENST00000368426.3	+	3	274	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R46H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R80H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R46H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTGAATACCGCACCCACAGG	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(136-138)cGc>cAc		zinc finger and BTB domain containing 7B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		137	3.6	1.0	1	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB7B	NM_015872.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	46/540	154987273	2,13004	2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987273G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.137G>A	1.37:g.154987273G>A	ENSP00000357411:p.Arg46His					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R46H|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R46H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R80H	p.R46H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	274	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		46			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.137G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087158	0.55968	2.27E-4	1.16E-4	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.185924	0.36303	N	0.002676	T	0.61887	0.2383	L	0.43923	1.385	0.35910	D	0.831028	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61275	0.886;0.837;0.886	T	0.61618	-0.7026	10	0.31617	T	0.26	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	46;46;80	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	H	46;46;80;46	ENSP00000438647:R46H;ENSP00000357411:R46H;ENSP00000406286:R80H;ENSP00000292176:R46H	ENSP00000292176:R46H	R	+	2	0	ZBTB7B	153253897	0.644000	0.27277	1.000000	0.80357	0.963000	0.63663	0.671000	0.25172	1.827000	0.53221	0.462000	0.41574	CGC		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		22	40	0	0	0	1	0	22	40				
B3GNT5	84002	broad.mit.edu	37	3	182988041	182988041	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182988041G>T	ENST00000326505.3	+	2	985	c.455G>T	c.(454-456)aGg>aTg	p.R152M	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R152M|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R152M	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	152					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGATCAAAGGTACAATGAT	0.383																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(454-456)aGg>aTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							56.0	54.0	55.0					3																	182988041		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988041G>T	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.455G>T	3.37:g.182988041G>T	ENSP00000316173:p.Arg152Met					MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R152M|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R152M|MCF2L2_ENST00000328913.3_Intron	p.R152M	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	985	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		152					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.455G>T	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	1.032	-0.681527	0.03353	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.42900	0.96;0.96;0.96	5.91	-1.36	0.09085	.	0.938103	0.09056	N	0.855083	T	0.19685	0.0473	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18681	-1.0329	10	0.38643	T	0.18	.	2.1232	0.03731	0.3856:0.0691:0.1782:0.367	.	152	Q9BYG0	B3GN5_HUMAN	M	152	ENSP00000316173:R152M;ENSP00000420778:R152M;ENSP00000417868:R152M	ENSP00000316173:R152M	R	+	2	0	B3GNT5	184470735	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.585000	0.05794	-0.081000	0.12662	-1.350000	0.01237	AGG		0.383	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		19	23	1	0	1.67942e-08	1	1.77343e-08	19	23				
TMEM144	55314	broad.mit.edu	37	4	159154132	159154132	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159154132C>A	ENST00000296529.6	+	7	1013	c.493C>A	c.(493-495)Cat>Aat	p.H165N	TMEM144_ENST00000514558.1_Missense_Mutation_p.H165N	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	165						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATAACAGAGCATGTGAGTAT	0.284																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(493-495)Cat>Aat		transmembrane protein 144							73.0	72.0	72.0					4																	159154132		2203	4295	6498	SO:0001583	missense	55314					integral to membrane		g.chr4:159154132C>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.493C>A	4.37:g.159154132C>A	ENSP00000296529:p.His165Asn					TMEM144_ENST00000296529.6_Missense_Mutation_p.H165N	p.H165N			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	6	2289	+	all_hematologic(180;0.24)	Renal(120;0.0854)	165					D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.493C>A	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214212	0.22289	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000514558	T;T;T	0.42131	0.98;0.98;0.98	5.58	5.58	0.84498	.	0.664430	0.15018	N	0.285179	T	0.34513	0.0900	L	0.38531	1.155	0.20638	N	0.999878	B	0.26147	0.143	B	0.24394	0.053	T	0.13818	-1.0495	10	0.19147	T	0.46	-43.7008	15.0683	0.72014	0.0:1.0:0.0:0.0	.	165	Q7Z5S9	TM144_HUMAN	N	165	ENSP00000422297:H165N;ENSP00000296529:H165N;ENSP00000426211:H165N	ENSP00000296529:H165N	H	+	1	0	TMEM144	159373582	0.189000	0.23263	0.849000	0.33467	0.800000	0.45204	1.092000	0.30927	2.628000	0.89032	0.591000	0.81541	CAT		0.284	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		23	34	1	0	1.66031e-10	1	1.77558e-10	23	34				
IMMP1L	196294	broad.mit.edu	37	11	31484797	31484797	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:31484797G>T	ENST00000278200.1	-	3	222	c.27C>A	c.(25-27)acC>acA	p.T9T	IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Silent_p.T9T|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.T9T|IMMP1L_ENST00000534812.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	9					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					CAAGTCGAAAGGTTTTCCCCA	0.363																																						ENST00000278200.1																			0				breast(1)|cervix(1)|large_intestine(1)|lung(4)	7						c.(25-27)acC>acA		IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)							116.0	96.0	103.0					11																	31484797		2202	4299	6501	SO:0001819	synonymous_variant	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31484797G>T		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.27C>A	11.37:g.31484797G>T						IMMP1L_ENST00000532287.1_Silent_p.T9T|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Silent_p.T9T	p.T9T	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN			3	222	-	Lung SC(675;0.225)		9					D3DQZ7|Q96SH9	Silent	SNP	ENST00000278200.1	37	c.27C>A	CCDS7874.1																																																																																				0.363	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		26	33	1	0	2.65835e-16	1	2.91848e-16	26	33				
ZBTB44	29068	broad.mit.edu	37	11	130106968	130106968	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130106968C>T	ENST00000357899.4	-	5	1560	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	ZBTB44_ENST00000525842.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.D430N			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CCACAGCGGTCACACTGAAAT	0.373																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1288-1290)Gac>Aac		zinc finger and BTB domain containing 44							99.0	93.0	95.0					11																	130106968		1884	4110	5994	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130106968C>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1288G>A	11.37:g.130106968C>T	ENSP00000350574:p.Asp430Asn					ZBTB44_ENST00000357899.4_Missense_Mutation_p.D430N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.D430N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.D430N	p.D430N	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	5	1655	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	430					Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.1288G>A		.	.	.	.	.	.	.	.	.	.	C	29.2	4.988911	0.93106	.	.	ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045291	0.85682	D	0.000000	T	0.36936	0.0985	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.81914	0.995;0.994;0.991	T	0.02238	-1.1190	10	0.30078	T	0.28	.	19.4578	0.94903	0.0:1.0:0.0:0.0	.	430;430;430	Q8NCP5-3;Q8NCP5;Q8NCP5-2	.;ZBT44_HUMAN;.	N	430	ENSP00000433457:D430N;ENSP00000380861:D430N;ENSP00000408079:D430N;ENSP00000350574:D430N;ENSP00000434177:D430N	ENSP00000350574:D430N	D	-	1	0	ZBTB44	129612178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.414000	0.80117	2.675000	0.91044	0.585000	0.79938	GAC		0.373	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		11	40	0	0	0	1	0	11	40				
FAM124B	79843	broad.mit.edu	37	2	225266032	225266032	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225266032C>T	ENST00000409685.3	-	1	719	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	FAM124B_ENST00000389874.3_Missense_Mutation_p.A152T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A152T	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	152								p.A152T(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGTCTGATGGCGTCTTCATAG	0.522																																						ENST00000389874.3																			2	Substitution - Missense(2)	p.A152T(2)	large_intestine(2)	endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(454-456)Gcc>Acc		family with sequence similarity 124B							89.0	84.0	86.0					2																	225266032		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266032C>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.454G>A	2.37:g.225266032C>T	ENSP00000386895:p.Ala152Thr					FAM124B_ENST00000409685.3_Missense_Mutation_p.A152T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A152T	p.A152T	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	679	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	152					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.454G>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972974	0.74246	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44083	0.93;0.93;0.93	5.64	4.76	0.60689	.	0.101330	0.64402	D	0.000002	T	0.53286	0.1787	M	0.65320	2	0.43734	D	0.996226	D;D	0.76494	0.999;0.997	P;P	0.61201	0.885;0.818	T	0.55431	-0.8142	10	0.02654	T	1	-20.6537	15.9002	0.79369	0.1365:0.8635:0.0:0.0	.	152;152	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	T	152	ENSP00000374524:A152T;ENSP00000386895:A152T;ENSP00000243806:A152T	ENSP00000243806:A152T	A	-	1	0	FAM124B	224974276	1.000000	0.71417	0.885000	0.34714	0.708000	0.40852	4.429000	0.59901	1.361000	0.45981	0.655000	0.94253	GCC		0.522	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		17	43	0	0	0	1	0	17	43				
C14orf37	145407	broad.mit.edu	37	14	58600014	58600014	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58600014G>A	ENST00000267485.7	-	3	1609	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	472						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGATAAAGTGGCATCTGGCTC	0.428																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(1414-1416)gCc>gTc		chromosome 14 open reading frame 37							127.0	128.0	128.0					14																	58600014		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58600014G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1415C>T	14.37:g.58600014G>A	ENSP00000267485:p.Ala472Val					C14orf37_ENST00000334342.5_5'UTR	p.A472V	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			3	1609	-			472					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1415C>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628896	0.46944	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.28069	1.63	5.59	5.59	0.84812	.	0.293567	0.29328	N	0.012475	T	0.52092	0.1713	M	0.64997	1.995	0.33270	D	0.560946	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;P;P	0.69479	0.932;0.964;0.881;0.881	T	0.64015	-0.6506	10	0.66056	D	0.02	-8.0344	15.1124	0.72368	0.0:0.0:1.0:0.0	.	510;472;472;472	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	472;510	ENSP00000267485:A472V	ENSP00000267485:A472V	A	-	2	0	C14orf37	57669767	0.998000	0.40836	0.348000	0.25681	0.268000	0.26511	5.173000	0.65010	2.622000	0.88805	0.563000	0.77884	GCC		0.428	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		4	85	0	0	0	1	0	4	85				
WDR18	57418	broad.mit.edu	37	19	990902	990902	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:990902G>A	ENST00000251289.5	+	5	671	c.648G>A	c.(646-648)gtG>gtA	p.V216V	WDR18_ENST00000587001.2_Silent_p.V216V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	216					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTTGACGTGTCCATCATGG	0.647																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(646-648)gtG>gtA		WD repeat domain 18							70.0	66.0	67.0					19																	990902		2202	4298	6500	SO:0001819	synonymous_variant	57418							g.chr19:990902G>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.648G>A	19.37:g.990902G>A						WDR18_ENST00000587001.2_Silent_p.V216V	p.V216V	NM_024100.3	NP_077005.2	Q9BV38	WDR18_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)	5	671	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	216					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.648G>A	CCDS12051.1																																																																																				0.647	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			6	18	0	0	0	1	0	6	18				
TJP2	9414	broad.mit.edu	37	9	71835923	71835923	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71835923T>C	ENST00000377245.4	+	5	671	c.463T>C	c.(463-465)Tac>Cac	p.Y155H	TJP2_ENST00000535702.1_Missense_Mutation_p.Y159H|TJP2_ENST00000453658.2_Missense_Mutation_p.Y132H|TJP2_ENST00000348208.4_Missense_Mutation_p.Y155H|TJP2_ENST00000265384.7_Missense_Mutation_p.Y155H|TJP2_ENST00000539225.1_Missense_Mutation_p.Y186H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	155					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGGAGTGGCTACAGCGAGAG	0.672																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(463-465)Tac>Cac		tight junction protein 2							26.0	25.0	25.0					9																	71835923		2200	4281	6481	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71835923T>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.463T>C	9.37:g.71835923T>C	ENSP00000366453:p.Tyr155His					TJP2_ENST00000535702.1_Missense_Mutation_p.Y159H|TJP2_ENST00000348208.4_Missense_Mutation_p.Y155H|TJP2_ENST00000265384.7_Missense_Mutation_p.Y155H|TJP2_ENST00000453658.2_Missense_Mutation_p.Y132H|TJP2_ENST00000539225.1_Missense_Mutation_p.Y186H	p.Y155H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	671	+			155					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.463T>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500412	0.64298	.	.	ENSG00000119139	ENST00000453658;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T	0.34275	3.0;1.37;2.99;3.0;3.0;2.99;3.03	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.48642	1.525	0.42479	D	0.992854	P;D;D;B;B	0.61080	0.937;0.989;0.985;0.112;0.053	P;D;P;B;B	0.63033	0.69;0.91;0.773;0.088;0.079	T	0.33752	-0.9856	10	0.16896	T	0.51	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	186;159;155;155;155	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	132;132;155;155;155;159;186	ENSP00000392178:Y132H;ENSP00000402941:Y132H;ENSP00000366453:Y155H;ENSP00000345893:Y155H;ENSP00000265384:Y155H;ENSP00000442090:Y159H;ENSP00000438262:Y186H	ENSP00000265384:Y155H	Y	+	1	0	TJP2	71025743	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	4.307000	0.59123	2.308000	0.77769	0.533000	0.62120	TAC		0.672	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	5	0	0	0	1	0	7	5				
ZNF367	195828	broad.mit.edu	37	9	99154699	99154699	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99154699C>T	ENST00000375256.4	-	4	1107	c.811G>A	c.(811-813)Gcg>Acg	p.A271T		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CACTCGGCCGCGGCCTTGTTG	0.622																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(811-813)Gcg>Acg		zinc finger protein 367							127.0	110.0	116.0					9																	99154699		2203	4300	6503	SO:0001583	missense	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99154699C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.811G>A	9.37:g.99154699C>T	ENSP00000364405:p.Ala271Thr						p.A271T	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			4	1107	-		Acute lymphoblastic leukemia(62;0.0167)	271					Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.811G>A	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348693	0.61183	.	.	ENSG00000165244	ENST00000375256	T	0.05258	3.47	5.28	5.28	0.74379	.	0.119797	0.56097	D	0.000027	T	0.02848	0.0085	N	0.08118	0	0.33856	D	0.633219	P;B	0.37594	0.601;0.041	B;B	0.23018	0.043;0.003	T	0.49652	-0.8917	10	0.24483	T	0.36	-5.4455	12.4173	0.55500	0.0:0.9238:0.0:0.0762	.	271;271	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	T	271	ENSP00000364405:A271T	ENSP00000364405:A271T	A	-	1	0	ZNF367	98194520	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	5.390000	0.66261	2.747000	0.94245	0.462000	0.41574	GCG		0.622	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			41	46	0	0	0	1	0	41	46				
POU4F1	5457	broad.mit.edu	37	13	79176630	79176630	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:79176630C>T	ENST00000377208.5	-	2	391	c.180G>A	c.(178-180)gcG>gcA	p.A60A	RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	60					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGCCGCCAGCGCCTCGGCCC	0.612																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(178-180)gcG>gcA		POU class 4 homeobox 1							27.0	18.0	21.0					13																	79176630		2186	4286	6472	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176630C>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.180G>A	13.37:g.79176630C>T						RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	p.A60A	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	391	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	60					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.180G>A	CCDS31996.1																																																																																				0.612	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			8	4	0	0	0	1	0	8	4				
RAB11B	9230	broad.mit.edu	37	19	8464808	8464808	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8464808C>T	ENST00000328024.6	+	2	320	c.102C>T	c.(100-102)aaC>aaT	p.N34N	RAB11B_ENST00000594216.1_Silent_p.N34N|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	34					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						TCACCCGCAACGAGTTCAACC	0.632																																						ENST00000328024.6																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(100-102)aaC>aaT		RAB11B, member RAS oncogene family							94.0	79.0	84.0					19																	8464808		2203	4300	6503	SO:0001819	synonymous_variant	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464808C>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.102C>T	19.37:g.8464808C>T						RAB11B_ENST00000594216.1_Silent_p.N34N|RAB11B_ENST00000601897.1_Intron	p.N34N	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN			2	320	+			34					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	ENST00000328024.6	37	c.102C>T	CCDS12201.1																																																																																				0.632	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		7	27	0	0	0	1	0	7	27				
GRM2	2912	broad.mit.edu	37	3	51747269	51747269	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51747269C>T	ENST00000395052.3	+	3	1465	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R411W	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	411					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACGCGATGCGGCCAGTTAA	0.577																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)Cgg>Tgg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						36.0	31.0	32.0					3																	51747269		2202	4297	6499	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51747269C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1231C>T	3.37:g.51747269C>T	ENSP00000378492:p.Arg411Trp					GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R411W	p.R411W	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1465	+			411					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1231C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530426	0.64860	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.83335	-1.71;-1.71	4.95	2.85	0.33270	Extracellular ligand-binding receptor (1);	0.202957	0.41500	D	0.000879	D	0.86331	0.5907	L	0.49350	1.555	0.43846	D	0.996436	D	0.69078	0.997	P	0.61003	0.882	D	0.86347	0.1708	10	0.87932	D	0	.	13.7247	0.62750	0.676:0.324:0.0:0.0	.	411	Q14416	GRM2_HUMAN	W	411	ENSP00000378492:R411W;ENSP00000408906:R411W	ENSP00000296479:R411W	R	+	1	2	GRM2	51722309	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	2.063000	0.41423	0.395000	0.25257	0.555000	0.69702	CGG		0.577	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	14	0	0	0	1	0	5	14				
LPA	4018	broad.mit.edu	37	6	160969576	160969576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160969576C>A	ENST00000316300.5	-	31	5133	c.5089G>T	c.(5089-5091)Gaa>Taa	p.E1697*	LPA_ENST00000447678.1_Nonsense_Mutation_p.E1697*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4205	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAGTCCCTTCTGTGTCTGAG	0.537																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5089-5091)Gaa>Taa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						88.0	94.0	92.0					6																	160969576		2202	4300	6502	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969576C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5089G>T	6.37:g.160969576C>A	ENSP00000321334:p.Glu1697*					LPA_ENST00000316300.5_Nonsense_Mutation_p.E1697*	p.E1697*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5209	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4205			Kringle 15.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.5089G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	41	9.005394	0.99033	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.37	0.279	0.15677	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	9.3622	0.38203	0.0:0.5826:0.4174:0.0	.	.	.	.	X	1697	.	ENSP00000321334:E1697X	E	-	1	0	LPA	160889566	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	-0.788000	0.04614	-0.089000	0.12484	0.205000	0.17691	GAA		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		31	51	1	0	4.62619e-21	1	5.13336e-21	31	51				
MAG	4099	broad.mit.edu	37	19	35800807	35800807	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35800807G>A	ENST00000392213.3	+	8	1421	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y	MAG_ENST00000537831.2_Missense_Mutation_p.C396Y|MAG_ENST00000361922.4_Missense_Mutation_p.C421Y|MAG_ENST00000593348.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	421	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGTCCCACTGCGCGGCAGCC	0.677																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1261-1263)tGc>tAc		myelin associated glycoprotein							66.0	73.0	70.0					19																	35800807		2203	4298	6501	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35800807G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1262G>A	19.37:g.35800807G>A	ENSP00000376048:p.Cys421Tyr					MAG_ENST00000537831.2_Missense_Mutation_p.C396Y|MAG_ENST00000392213.3_Missense_Mutation_p.C421Y|MAG_ENST00000593348.1_3'UTR	p.C421Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1412	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	421			Ig-like C2-type 4.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1262G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448085	0.84101	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13778	2.56;2.56;2.56	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.83275	0.99;0.992;0.996	T	0.01386	-1.1368	10	0.02654	T	1	.	16.4987	0.84252	0.0:0.0:1.0:0.0	.	458;421;421	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	Y	458;421;421;396	ENSP00000355234:C421Y;ENSP00000376048:C421Y;ENSP00000440695:C396Y	ENSP00000262624:C458Y	C	+	2	0	MAG	40492647	1.000000	0.71417	0.946000	0.38457	0.945000	0.59286	6.731000	0.74785	2.497000	0.84241	0.462000	0.41574	TGC		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		35	52	0	0	0	1	0	35	52				
AKR1B15	441282	broad.mit.edu	37	7	134250236	134250236	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:134250236G>A	ENST00000457545.2	+	3	410				AKR1B15_ENST00000423958.1_Missense_Mutation_p.A2T	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15								oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACCAACCATGGCCACGTTTGT	0.517																																						ENST00000423958.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(4-6)Gcc>Acc		aldo-keto reductase family 1, member B15							124.0	116.0	119.0					7																	134250236		2203	4300	6503	SO:0001627	intron_variant	441282						oxidoreductase activity	g.chr7:134250236G>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.150+715G>A	7.37:g.134250236G>A						AKR1B15_ENST00000457545.2_Intron	p.A2T			C9JRZ8	AK1BF_HUMAN			1	4	+			0					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.4G>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	9.210	1.030611	0.19512	.	.	ENSG00000227471	ENST00000423958	T	0.33865	1.39	2.77	1.84	0.25277	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.25754	N	0.985022	B;B	0.20368	0.012;0.044	B;B	0.21360	0.034;0.031	T	0.21655	-1.0239	8	0.48119	T	0.1	.	6.0971	0.20027	0.1582:0.0:0.8418:0.0	.	2;2	C9JRZ8-2;A4D1P0	.;.	T	2	ENSP00000397009:A2T	ENSP00000397009:A2T	A	+	1	0	AKR1B15	133900776	0.996000	0.38824	0.834000	0.33040	0.563000	0.35712	2.151000	0.42263	0.446000	0.26666	0.508000	0.49915	GCC		0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			4	31	0	0	0	1	0	4	31				
ASMTL	8623	broad.mit.edu	37	X	1546862	1546862	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1546862C>T	ENST00000381317.3	-	7	694	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ASMTL_ENST00000416733.2_Missense_Mutation_p.R145Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.R205Q|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000534940.1_Missense_Mutation_p.R163Q	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	221	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACACTCCGCCGCAGGTCCTC	0.657																																						ENST00000534940.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(487-489)cGg>cAg		acetylserotonin O-methyltransferase-like							43.0	50.0	48.0					X																	1546862		1971	4115	6086	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546862C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.662G>A	X.37:g.1546862C>T	ENSP00000370718:p.Arg221Gln					ASMTL_ENST00000416733.2_Missense_Mutation_p.R145Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.R221Q|ASMTL_ENST00000381333.4_Missense_Mutation_p.R205Q|ASMTL_ENST00000463763.1_5'UTR	p.R163Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			7	713	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	221			MAF-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.488G>A	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	1.951	-0.441239	0.04604	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.01767	4.65;4.66;4.65;4.65	1.99	-2.45	0.06481	.	1.186530	0.06549	N	0.744640	T	0.00967	0.0032	N	0.04508	-0.205	0.09310	N	1	B;P;P	0.46020	0.017;0.871;0.796	B;B;B	0.38755	0.001;0.281;0.089	T	0.50154	-0.8861	10	0.17369	T	0.5	.	8.099	0.30846	0.0:0.3174:0.0:0.6826	.	145;205;221	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	Q	145;163;205;221	ENSP00000410578:R145Q;ENSP00000446410:R163Q;ENSP00000370734:R205Q;ENSP00000370718:R221Q	ENSP00000370718:R221Q	R	-	2	0	ASMTL	1506862	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.643000	0.05421	-0.794000	0.04468	-0.762000	0.03455	CGG		0.657	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		9	15	0	0	0	1	0	9	15				
NPHS1	4868	broad.mit.edu	37	19	36340544	36340544	+	Missense_Mutation	SNP	C	C	T	rs114428177|rs386833956		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36340544C>T	ENST00000378910.5	-	6	619	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.R207Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	207	Ig-like C2-type 2.		TPR -> I (in NPHS1). {ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGAGCTCCGGGGTGTCAC	0.542													c|||	1	0.000199681	0.0	0.0	5008	,	,		18301	0.001		0.0	False		,,,				2504	0.0					ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(619-621)cGg>cAg		nephrosis 1, congenital, Finnish type (nephrin)							63.0	62.0	63.0					19																	36340544		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340544C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.620G>A	19.37:g.36340544C>T	ENSP00000368190:p.Arg207Gln					NPHS1_ENST00000353632.6_Missense_Mutation_p.R207Q	p.R207Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	619	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		207		TPR -> I (in NPHS1).	Ig-like C2-type 2.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.620G>A	CCDS32996.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	4.455	0.084189	0.08583	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.75704	-0.96;-0.96	5.53	0.782	0.18567	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.466841	0.23026	N	0.052783	T	0.37972	0.1023	N	0.02011	-0.69	0.26937	N	0.96633	B	0.06786	0.001	B	0.08055	0.003	T	0.17018	-1.0383	10	0.18276	T	0.48	-8.7913	1.961	0.03386	0.1315:0.1552:0.1362:0.577	.	207	O60500	NPHN_HUMAN	Q	207	ENSP00000368190:R207Q;ENSP00000343634:R207Q	ENSP00000343634:R207Q	R	-	2	0	NPHS1	41032384	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	0.769000	0.26604	0.405000	0.25532	-1.164000	0.01763	CGG		0.542	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			12	21	0	0	0	1	0	12	21				
TTLL1	25809	broad.mit.edu	37	22	43442572	43442572	+	Missense_Mutation	SNP	G	G	A	rs202042134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43442572G>A	ENST00000266254.7	-	10	1226	c.986C>T	c.(985-987)gCg>gTg	p.A329V	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.A300V	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	329	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGACGGGGACGCATTCACCTG	0.507																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(898-900)gCg>gTg		tubulin tyrosine ligase-like family, member 1							245.0	213.0	223.0					22																	43442572		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442572G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.986C>T	22.37:g.43442572G>A	ENSP00000266254:p.Ala329Val					AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.A329V	p.A300V			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1139	-		Ovarian(80;0.0694)	329			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.899C>T	CCDS14043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.025647|5.025647	0.93518|0.93518	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.07908|.	3.32;3.15|.	5.54|5.54	3.47|3.47	0.39725|0.39725	ATP-grasp fold, subdomain 2 (1);|.	0.115539|.	0.64402|.	D|.	0.000015|.	T|T	0.73528|0.73528	0.3598|0.3598	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.99;0.992|.	T|T	0.73639|0.73639	-0.3919|-0.3919	10|5	0.27785|.	T|.	0.31|.	.|.	12.0411|12.0411	0.53454|0.53454	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	300;329|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	V|C	300;329|255	ENSP00000333734:A300V;ENSP00000266254:A329V|.	ENSP00000266254:A329V|.	A|R	-|-	2|1	0|0	TTLL1|TTLL1	41772516|41772516	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.471000|0.471000	0.32888|0.32888	9.777000|9.777000	0.99008|0.99008	0.721000|0.721000	0.32231|0.32231	0.549000|0.549000	0.68633|0.68633	GCG|CGT		0.507	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		23	40	0	0	0	1	0	23	40				
INSR	3643	broad.mit.edu	37	19	7267687	7267687	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7267687C>T	ENST00000302850.5	-	2	463	c.321G>A	c.(319-321)acG>acA	p.T107T	INSR_ENST00000341500.5_Silent_p.T107T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	107	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCCGGATGACCGTGAGGTTGG	0.527																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(319-321)acG>acA		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	73.0	74.0					19																	7267687		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267687C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.321G>A	19.37:g.7267687C>T						INSR_ENST00000302850.5_Silent_p.T107T	p.T107T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	360	-			107					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.321G>A	CCDS12176.1																																																																																				0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			19	35	0	0	0	1	0	19	35				
MUC16	94025	broad.mit.edu	37	19	9033726	9033726	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9033726G>A	ENST00000397910.4	-	9	36414	c.36211C>T	c.(36211-36213)Cca>Tca	p.P12071S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12073	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCATGAATGGGACTGTGGCT	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36211-36213)Cca>Tca		mucin 16, cell surface associated							115.0	113.0	113.0					19																	9033726		2096	4224	6320	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033726G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36211C>T	19.37:g.9033726G>A	ENSP00000381008:p.Pro12071Ser						p.P12071S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			9	36414	-			12073			SEA 1.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36211C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775799	0.31411	.	.	ENSG00000181143	ENST00000397910	T	0.32988	1.43	3.73	2.69	0.31865	.	.	.	.	.	T	0.49321	0.1550	M	0.79475	2.455	.	.	.	D	0.54964	0.969	D	0.63033	0.91	T	0.61855	-0.6977	8	0.87932	D	0	.	7.266	0.26229	0.121:0.0:0.879:0.0	.	12071	B5ME49	.	S	12071	ENSP00000381008:P12071S	ENSP00000381008:P12071S	P	-	1	0	MUC16	8894726	0.029000	0.19370	0.006000	0.13384	0.005000	0.04900	1.036000	0.30228	1.153000	0.42468	0.650000	0.86243	CCA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	29	0	0	0	1	0	9	29				
H3F3C	440093	broad.mit.edu	37	12	31944876	31944876	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31944876C>T	ENST00000340398.3	-	1	299	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	75					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGAAATCCTGCGCGATCTCCC	0.592										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(223-225)gcG>gcA		H3 histone, family 3C							111.0	103.0	106.0					12																	31944876		2203	4300	6503	SO:0001819	synonymous_variant	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944876C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.225G>A	12.37:g.31944876C>T		HNSCC(67;0.2)					p.A75A	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	299	-			75					E9P281	Silent	SNP	ENST00000340398.3	37	c.225G>A	CCDS31769.1																																																																																				0.592	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		20	37	0	0	0	1	0	20	37				
ATP7B	540	broad.mit.edu	37	13	52539084	52539084	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52539084G>A	ENST00000242839.4	-	5	1949	c.1793C>T	c.(1792-1794)gCc>gTc	p.A598V	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.A598V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A598V|ATP7B_ENST00000418097.2_Missense_Mutation_p.A598V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.A487V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	598	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GGTGGCAAGGGCAACGGAGGC	0.448									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1792-1794)gCc>gTc		ATPase, Cu++ transporting, beta polypeptide							103.0	106.0	105.0					13																	52539084		2011	4190	6201	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52539084G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1793C>T	13.37:g.52539084G>A	ENSP00000242839:p.Ala598Val					ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.A598V|ATP7B_ENST00000448424.2_Missense_Mutation_p.A598V|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.A598V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.A487V	p.A598V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	5	1949	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	598			HMA 6.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1793C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383466	0.82792	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.95	5.95	0.96441	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.090319	0.85682	D	0.000000	D	0.88618	0.6485	M	0.81942	2.565	0.80722	D	1	P;D;D;D;D;D	0.76494	0.937;0.967;0.979;0.999;0.979;0.967	B;B;B;P;B;B	0.49276	0.186;0.242;0.368;0.605;0.397;0.214	D	0.89738	0.3931	10	0.66056	D	0.02	-30.6793	14.5295	0.67915	0.0694:0.0:0.9306:0.0	.	598;598;598;487;598;598	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	V	598;487;598;598;598	ENSP00000242839:A598V;ENSP00000383217:A487V;ENSP00000342559:A598V;ENSP00000416738:A598V;ENSP00000393343:A598V	ENSP00000242839:A598V	A	-	2	0	ATP7B	51437085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.297000	0.72757	2.824000	0.97209	0.655000	0.94253	GCC		0.448	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		36	58	0	0	0	1	0	36	58				
IFNL2	282616	broad.mit.edu	37	19	39759403	39759403	+	Missense_Mutation	SNP	G	G	A	rs368918145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39759403G>A	ENST00000331982.5	+	2	152	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	33					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGGCTCCACGGGGCTCTCCC	0.607																																						ENST00000331982.5																			0											c.(97-99)Ggg>Agg		interferon, lambda 2		G	ARG/GLY	0,4406		0,0,2203	48.0	51.0	50.0		97	-6.2	0.0	19		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL28A	NM_172138.1	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	33/201	39759403	1,13005	2203	4300	6503	SO:0001583	missense	282616							g.chr19:39759403G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.97G>A	19.37:g.39759403G>A	ENSP00000333639:p.Gly33Arg						p.G33R	NM_172138.1	NP_742150.1					2	152	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.97G>A	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580794	0.00879	0.0	1.16E-4	ENSG00000183709	ENST00000331982	T	0.12147	2.71	3.08	-6.15	0.02105	.	1.126930	0.06660	N	0.764322	T	0.04634	0.0126	N	0.05383	-0.06	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.41858	-0.9485	10	0.06236	T	0.91	-0.0017	6.5448	0.22400	0.3088:0.1522:0.539:0.0	.	33	Q8IZJ0	IL28A_HUMAN	R	33	ENSP00000333639:G33R	ENSP00000333639:G33R	G	+	1	0	IL28A	44451243	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.363000	0.00497	-1.497000	0.01826	-1.112000	0.02068	GGG		0.607	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		14	16	0	0	0	1	0	14	16				
DNAH9	1770	broad.mit.edu	37	17	11700997	11700997	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11700997G>C	ENST00000262442.4	+	43	8375	c.8307G>C	c.(8305-8307)atG>atC	p.M2769I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M2769I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2769					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAAATACATGCCTGTACAGT	0.488																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8305-8307)atG>atC		dynein, axonemal, heavy chain 9							169.0	135.0	147.0					17																	11700997		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11700997G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8307G>C	17.37:g.11700997G>C	ENSP00000262442:p.Met2769Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.M2769I	p.M2769I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8375	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2769					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8307G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984223	0.35036	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25579	1.84;1.79	5.68	5.68	0.88126	.	0.207799	0.47852	D	0.000213	T	0.37839	0.1018	M	0.83774	2.66	0.80722	D	1	B	0.29301	0.241	B	0.28638	0.092	T	0.21690	-1.0238	10	0.36615	T	0.2	.	19.7849	0.96432	0.0:0.0:1.0:0.0	.	2769	Q9NYC9	DYH9_HUMAN	I	2769;2769;1351	ENSP00000262442:M2769I;ENSP00000414874:M2769I	ENSP00000262442:M2769I	M	+	3	0	DNAH9	11641722	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.871000	0.87180	2.671000	0.90904	0.650000	0.86243	ATG		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		11	21	0	0	0	1	0	11	21				
TAS1R2	80834	broad.mit.edu	37	1	19181437	19181437	+	Missense_Mutation	SNP	C	C	T	rs567107786	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19181437C>T	ENST00000375371.3	-	3	548	c.527G>A	c.(526-528)cGc>cAc	p.R176H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	176					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCGGGAAGCGCACCTTGTC	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		20772	0.002		0.0	False		,,,				2504	0.0					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(526-528)cGc>cAc		taste receptor, type 1, member 2	Aspartame(DB00168)						50.0	49.0	49.0					1																	19181437		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181437C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.527G>A	1.37:g.19181437C>T	ENSP00000364520:p.Arg176His					RP13-279N23.2_ENST00000494072.3_3'UTR	p.R176H	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	548	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	176					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.527G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	2.269	-0.367332	0.05069	.	.	ENSG00000179002	ENST00000375371	D	0.84800	-1.9	4.84	-2.44	0.06502	Extracellular ligand-binding receptor (1);	0.602886	0.13415	N	0.389553	T	0.73729	0.3624	L	0.43152	1.355	0.09310	N	1	B	0.22211	0.066	B	0.17722	0.019	T	0.61048	-0.7141	10	0.52906	T	0.07	.	3.543	0.07818	0.3941:0.284:0.0:0.3218	.	176	Q8TE23	TS1R2_HUMAN	H	176	ENSP00000364520:R176H	ENSP00000364520:R176H	R	-	2	0	TAS1R2	19054024	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.366000	0.07563	-0.322000	0.08615	0.491000	0.48974	CGC		0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			8	21	0	0	0	1	0	8	21				
FBXL18	80028	broad.mit.edu	37	7	5541627	5541627	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5541627C>T	ENST00000382368.3	-	3	396	c.273G>A	c.(271-273)gaG>gaA	p.E91E	FBXL18_ENST00000453700.3_Silent_p.E91E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	91									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCCGGCCGATCTCCTTCACCA	0.652																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(271-273)gaG>gaA		F-box and leucine-rich repeat protein 18							14.0	17.0	16.0					7																	5541627		2089	4215	6304	SO:0001819	synonymous_variant	80028							g.chr7:5541627C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.273G>A	7.37:g.5541627C>T						FBXL18_ENST00000453700.3_Silent_p.E91E	p.E91E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	396	-		Ovarian(82;0.0607)	91					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.273G>A	CCDS43546.1																																																																																				0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		6	6	0	0	0	1	0	6	6				
FASTKD2	22868	broad.mit.edu	37	2	207631944	207631944	+	Missense_Mutation	SNP	C	C	T	rs367909050		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207631944C>T	ENST00000236980.6	+	2	875	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A176V|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A176V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	176					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTTTCAAAAGCGCCCACATTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20933	0.001		0.0	False		,,,				2504	0.0					ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(526-528)gCg>gTg		FAST kinase domains 2							121.0	118.0	119.0					2																	207631944		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631944C>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.527C>T	2.37:g.207631944C>T	ENSP00000236980:p.Ala176Val					FASTKD2_ENST00000402774.3_Missense_Mutation_p.A176V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A176V	p.A176V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	875	+			176					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.527C>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	6.509	0.462197	0.12342	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15718	2.4;2.4;2.4	5.31	1.63	0.23807	.	1.176150	0.06114	N	0.667791	T	0.19208	0.0461	L	0.48642	1.525	0.09310	N	1	D;P	0.56287	0.975;0.931	P;B	0.46975	0.533;0.207	T	0.21518	-1.0243	10	0.15499	T	0.54	-23.3686	9.0538	0.36392	0.0:0.5357:0.3397:0.1246	.	176;176	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	V	176	ENSP00000236980:A176V;ENSP00000385990:A176V;ENSP00000384929:A176V	ENSP00000236980:A176V	A	+	2	0	FASTKD2	207340189	0.001000	0.12720	0.877000	0.34402	0.141000	0.21300	0.095000	0.15127	1.210000	0.43336	0.561000	0.74099	GCG		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		37	73	0	0	0	1	0	37	73				
ZNF692	55657	broad.mit.edu	37	1	249144569	249144569	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249144569C>T	ENST00000306601.4	-	12	1566	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	ZNF692_ENST00000366471.3_Missense_Mutation_p.R422H|ZNF692_ENST00000451251.1_Missense_Mutation_p.R472H|ZNF692_ENST00000366469.5_Missense_Mutation_p.R466H|ZNF692_ENST00000427146.1_Missense_Mutation_p.R422H	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTTTGCTACGGTGGGCTGC	0.617																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(1414-1416)cGt>cAt		zinc finger protein 692							113.0	117.0	115.0					1																	249144569		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249144569C>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1400G>A	1.37:g.249144569C>T	ENSP00000305483:p.Arg467His					ZNF692_ENST00000366469.5_Missense_Mutation_p.R466H|ZNF692_ENST00000427146.1_Missense_Mutation_p.R422H|ZNF692_ENST00000366471.3_Missense_Mutation_p.R422H|ZNF692_ENST00000306601.4_Missense_Mutation_p.R467H	p.R472H	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		12	1760	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	467					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.1415G>A	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729017	0.30684	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.62	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.954634	0.08736	N	0.901268	T	0.39226	0.1070	N	0.14661	0.345	0.23260	N	0.998026	P;P;P;P;D	0.54047	0.768;0.928;0.928;0.768;0.964	B;P;P;B;B	0.49301	0.178;0.606;0.502;0.178;0.432	T	0.12889	-1.0530	10	0.39692	T	0.17	-1.0485	8.8465	0.35172	0.0:0.8996:0.0:0.1004	.	472;422;295;467;200	B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.;.;.;ZN692_HUMAN;.	H	467;422;295;422;466;472	ENSP00000305483:R467H;ENSP00000390044:R422H;ENSP00000355427:R422H;ENSP00000355425:R466H;ENSP00000391200:R472H	ENSP00000305483:R467H	R	-	2	0	ZNF692	247111192	0.176000	0.23096	0.215000	0.23724	0.024000	0.10985	1.576000	0.36504	2.560000	0.86352	0.655000	0.94253	CGT		0.617	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		5	54	0	0	0	1	0	5	54				
PCLO	27445	broad.mit.edu	37	7	82582023	82582023	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82582023G>T	ENST00000333891.9	-	5	8583	c.8246C>A	c.(8245-8247)gCt>gAt	p.A2749D	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2749D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATTGTAGAAGCAGAAAGATC	0.343																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8245-8247)gCt>gAt		piccolo presynaptic cytomatrix protein							76.0	74.0	74.0					7																	82582023		1883	4115	5998	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582023G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8246C>A	7.37:g.82582023G>T	ENSP00000334319:p.Ala2749Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.A2749D	p.A2749D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	8583	-			2680						Missense_Mutation	SNP	ENST00000333891.9	37	c.8246C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958378	0.18507	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.15	5.54	3.68	0.42216	.	.	.	.	.	T	0.21761	0.0524	L	0.54323	1.7	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.16722	0.016;0.016	T	0.05886	-1.0858	9	0.87932	D	0	.	10.836	0.46688	0.069:0.0:0.8019:0.1291	.	2749;2749	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2680;2749;2749	ENSP00000334319:A2749D;ENSP00000388393:A2749D	ENSP00000334319:A2749D	A	-	2	0	PCLO	82419959	1.000000	0.71417	0.862000	0.33874	0.729000	0.41735	7.605000	0.82844	1.289000	0.44618	0.655000	0.94253	GCT		0.343	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	47	1	0	0.0215528	1	0.0217053	6	47				
OXCT1	5019	broad.mit.edu	37	5	41805725	41805725	+	Missense_Mutation	SNP	T	T	C	rs534151467		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41805725T>C	ENST00000196371.5	-	9	1059	c.899A>G	c.(898-900)gAc>gGc	p.D300G	OXCT1_ENST00000509987.1_Missense_Mutation_p.D114G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	300					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTCCCTTACGTCATCTCCAGG	0.443													T|||	1	0.000199681	0.0	0.0	5008	,	,		17309	0.001		0.0	False		,,,				2504	0.0					ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(898-900)gAc>gGc		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						143.0	141.0	142.0					5																	41805725		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805725T>C	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.899A>G	5.37:g.41805725T>C	ENSP00000196371:p.Asp300Gly					OXCT1_ENST00000509987.1_Missense_Mutation_p.D114G	p.D300G	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			9	1059	-			300					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.899A>G	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	8.657	0.899678	0.17686	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.92752	-3.1;-3.1	5.65	4.48	0.54585	.	0.581714	0.19475	N	0.113349	D	0.87458	0.6182	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73836	-0.3857	10	0.23302	T	0.38	-7.021	6.4548	0.21924	0.138:0.0756:0.0:0.7864	.	300	P55809	SCOT1_HUMAN	G	300;114	ENSP00000196371:D300G;ENSP00000425348:D114G	ENSP00000196371:D300G	D	-	2	0	OXCT1	41841482	0.996000	0.38824	0.001000	0.08648	0.479000	0.33129	2.928000	0.48908	1.062000	0.40625	0.528000	0.53228	GAC		0.443	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		14	32	0	0	0	1	0	14	32				
COL18A1	80781	broad.mit.edu	37	21	46907409	46907409	+	Missense_Mutation	SNP	G	G	A	rs181012655	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46907409G>A	ENST00000359759.4	+	16	3148	c.3127G>A	c.(3127-3129)Gct>Act	p.A1043T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A628T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A808T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1043	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGCCCGAAGCGCTGATGGGCC	0.642													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		3420	0.0		0.0	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3127-3129)Gct>Act		collagen, type XVIII, alpha 1		G	THR/ALA,THR/ALA	7,4057		0,7,2025	50.0	57.0	55.0		2422,1882	-2.8	0.0	21		55	0,8354		0,0,4177	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	58,58	0,7,6202	AA,AG,GG		0.0,0.1722,0.0564	possibly-damaging,possibly-damaging	808/1520,628/1340	46907409	7,12411	2032	4177	6209	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46907409G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3127G>A	21.37:g.46907409G>A	ENSP00000352798:p.Ala1043Thr					COL18A1_ENST00000400337.2_Missense_Mutation_p.A628T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A808T	p.A1043T			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	16	3148	+			1043			Nonhelical region 4 (NC4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3127G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.63	1.994197	0.35226	0.001722	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.93604	-3.25;-3.25;-3.25	4.01	-2.83	0.05769	.	2.790810	0.02267	U	0.068065	D	0.83473	0.5262	N	0.20483	0.58	0.09310	N	1	B;B;B	0.33748	0.423;0.37;0.168	B;B;B	0.21151	0.033;0.02;0.02	T	0.76539	-0.2922	10	0.09338	T	0.73	.	7.6133	0.28144	0.1112:0.0:0.6535:0.2352	.	1043;808;628	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	628;628;808;1043;1043	ENSP00000383191:A628T;ENSP00000347665:A808T;ENSP00000352798:A1043T	ENSP00000347665:A808T	A	+	1	0	COL18A1	45731837	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.510000	0.06328	-0.312000	0.08741	-0.397000	0.06425	GCT		0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			24	11	0	0	0	1	0	24	11				
CTNND2	1501	broad.mit.edu	37	5	11364876	11364876	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:11364876C>T	ENST00000304623.8	-	8	1493	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	CTNND2_ENST00000511377.1_Missense_Mutation_p.R344K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R2K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R98K|CTNND2_ENST00000359640.2_Missense_Mutation_p.R435K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	435					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGAGACTCCTCATAGGGGG	0.627																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1303-1305)aGg>aAg		catenin (cadherin-associated protein), delta 2							44.0	48.0	47.0					5																	11364876		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364876C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1304G>A	5.37:g.11364876C>T	ENSP00000307134:p.Arg435Lys					CTNND2_ENST00000359640.2_Missense_Mutation_p.R435K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R98K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R2K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R344K	p.R435K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1493	-			435					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1304G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207920	0.95033	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622;ENST00000502551	T;T;T;T;T	0.80480	-1.27;-1.38;-1.29;-1.37;-1.3	5.47	5.47	0.80525	.	0.065514	0.56097	D	0.000026	D	0.87767	0.6260	L	0.55990	1.75	0.39252	D	0.964058	P;P;D	0.64830	0.956;0.841;0.994	D;P;D	0.70716	0.931;0.745;0.97	D	0.88018	0.2767	10	0.49607	T	0.09	-15.6147	19.3321	0.94295	0.0:1.0:0.0:0.0	.	98;2;435	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	435;435;344;2;98;175	ENSP00000307134:R435K;ENSP00000352661:R435K;ENSP00000426510:R344K;ENSP00000391155:R2K;ENSP00000426887:R98K	ENSP00000307134:R435K	R	-	2	0	CTNND2	11417876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.581000	0.87130	0.655000	0.94253	AGG		0.627	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		5	19	0	0	0	1	0	5	19				
KCNF1	3754	broad.mit.edu	37	2	11052805	11052805	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11052805G>A	ENST00000295082.1	+	1	743	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	85					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGACCCGGACGCCTTCAAGTG	0.562																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(253-255)Gcc>Acc		potassium voltage-gated channel, subfamily F, member 1							54.0	58.0	56.0					2																	11052805		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052805G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.253G>A	2.37:g.11052805G>A	ENSP00000295082:p.Ala85Thr						p.A85T	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	743	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		85					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.253G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835964	0.50951	.	.	ENSG00000162975	ENST00000295082	D	0.94184	-3.37	4.89	4.89	0.63831	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.053703	0.64402	D	0.000001	D	0.93387	0.7891	M	0.69463	2.115	0.58432	D	0.999994	P	0.51351	0.944	P	0.46208	0.507	D	0.92695	0.6170	10	0.33940	T	0.23	.	18.4189	0.90582	0.0:0.0:1.0:0.0	.	85	Q9H3M0	KCNF1_HUMAN	T	85	ENSP00000295082:A85T	ENSP00000295082:A85T	A	+	1	0	KCNF1	10970256	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.341000	0.72977	2.407000	0.81776	0.563000	0.77884	GCC		0.562	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		18	20	0	0	0	1	0	18	20				
ITGA1	3672	broad.mit.edu	37	5	52206155	52206155	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52206155A>G	ENST00000282588.6	+	14	2221	c.1763A>G	c.(1762-1764)gAc>gGc	p.D588G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	588					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GGATTTAATGACATCGTGATA	0.433																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1762-1764)gAc>gGc		integrin, alpha 1							88.0	89.0	89.0					5																	52206155		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52206155A>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1763A>G	5.37:g.52206155A>G	ENSP00000282588:p.Asp588Gly						p.D588G	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			14	2221	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	588					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1763A>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874658	0.91664	.	.	ENSG00000213949	ENST00000282588	D	0.96011	-3.88	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	H	0.97829	4.085	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.99683	1.0999	10	0.87932	D	0	.	16.5494	0.84464	1.0:0.0:0.0:0.0	.	588	P56199	ITA1_HUMAN	G	588	ENSP00000282588:D588G	ENSP00000282588:D588G	D	+	2	0	ITGA1	52241912	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.860000	0.92272	2.299000	0.77371	0.528000	0.53228	GAC		0.433	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		14	21	0	0	0	1	0	14	21				
TMOD3	29766	broad.mit.edu	37	15	52186107	52186107	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:52186107G>A	ENST00000308580.7	+	6	873	c.592G>A	c.(592-594)Gct>Act	p.A198T	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.A198T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	198						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AGAAAACGATGCTCATCTTGT	0.373																																					Colon(122;1837 2251 18387 22826)	ENST00000308580.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14						c.(592-594)Gct>Act		tropomodulin 3 (ubiquitous)							136.0	134.0	134.0					15																	52186107		2195	4293	6488	SO:0001583	missense	29766					cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52186107G>A	AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.592G>A	15.37:g.52186107G>A	ENSP00000308753:p.Ala198Thr					RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.A198T	p.A198T	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN		all cancers(107;0.00194)	6	873	+			198					B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	c.592G>A	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521786	0.44866	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	D;D	0.91843	-2.92;-2.92	4.93	2.71	0.32032	.	0.404947	0.28001	N	0.016996	T	0.75228	0.3821	N	0.02412	-0.56	0.23298	N	0.997956	B	0.02656	0.0	B	0.04013	0.001	T	0.64149	-0.6475	10	0.42905	T	0.14	-0.7721	2.4818	0.04589	0.0956:0.2433:0.4055:0.2555	.	198	Q9NYL9	TMOD3_HUMAN	T	198	ENSP00000308753:A198T;ENSP00000438909:A198T	ENSP00000308753:A198T	A	+	1	0	TMOD3	49973399	0.939000	0.31865	0.775000	0.31657	0.968000	0.65278	0.575000	0.23729	1.178000	0.42870	0.591000	0.81541	GCT		0.373	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3			32	53	0	0	0	1	0	32	53				
PIGT	51604	broad.mit.edu	37	20	44049219	44049219	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44049219G>A	ENST00000279036.6	+	8	999	c.919G>A	c.(919-921)Gtc>Atc	p.V307I	PIGT_ENST00000372689.5_Missense_Mutation_p.V307I|PIGT_ENST00000535404.1_Missense_Mutation_p.V152I|PIGT_ENST00000543458.2_Missense_Mutation_p.V251I|PIGT_ENST00000341555.5_Missense_Mutation_p.V113I|PIGT_ENST00000279035.9_Missense_Mutation_p.V205I|PIGT_ENST00000545755.1_Missense_Mutation_p.V45I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	307					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATATCAGGACGTCATCCTAGG	0.532																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(919-921)Gtc>Atc		phosphatidylinositol glycan anchor biosynthesis, class T							138.0	100.0	113.0					20																	44049219		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44049219G>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.919G>A	20.37:g.44049219G>A	ENSP00000279036:p.Val307Ile					PIGT_ENST00000543458.2_Missense_Mutation_p.V251I|PIGT_ENST00000279035.9_Missense_Mutation_p.V205I|PIGT_ENST00000372689.5_Missense_Mutation_p.V307I|PIGT_ENST00000341555.5_Missense_Mutation_p.V113I|PIGT_ENST00000545755.1_Missense_Mutation_p.V45I|PIGT_ENST00000535404.1_Missense_Mutation_p.V152I	p.V307I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			8	999	+		Myeloproliferative disorder(115;0.0122)	307					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.919G>A	CCDS13353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.214|6.214	0.407574|0.407574	0.11754|0.11754	.|.	.|.	ENSG00000124155|ENSG00000124155	ENST00000432270|ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000545755;ENST00000341555;ENST00000535404	.|T;T;T;T;T;T;T	.|0.44083	.|0.95;1.0;0.95;0.95;0.95;0.96;0.93	5.38|5.38	3.39|3.39	0.38822|0.38822	.|.	.|0.360538	.|0.27876	.|N	.|0.017498	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.25144|0.25144	0.715|0.715	0.40078|0.40078	D|D	0.976096|0.976096	.|B;B;B;B;B;B;P;B;B	.|0.35982	.|0.027;0.012;0.143;0.023;0.013;0.403;0.531;0.051;0.008	.|B;B;B;B;B;B;B;B;B	.|0.24974	.|0.033;0.007;0.018;0.015;0.015;0.024;0.057;0.022;0.008	T|T	0.06445|0.06445	-1.0826|-1.0826	5|10	.|0.19590	.|T	.|0.45	-23.8665|-23.8665	7.4098|7.4098	0.27011|0.27011	0.3112:0.0:0.6888:0.0|0.3112:0.0:0.6888:0.0	.|.	.|145;205;152;251;45;113;163;45;307	.|B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;Q969N2-3;B7Z1N3;Q969N2	.|.;.;.;.;.;.;.;.;PIGT_HUMAN	H|I	104|251;307;205;307;205;45;113;152	.|ENSP00000441577:V251I;ENSP00000361774:V307I;ENSP00000279035:V205I;ENSP00000279036:V307I;ENSP00000443963:V45I;ENSP00000343783:V113I;ENSP00000440528:V152I	.|ENSP00000279035:V205I	R|V	+|+	2|1	0|0	PIGT|PIGT	43482633|43482633	0.957000|0.957000	0.32711|0.32711	0.661000|0.661000	0.29709|0.29709	0.005000|0.005000	0.04900|0.04900	1.566000|1.566000	0.36396|0.36396	0.767000|0.767000	0.33267|0.33267	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.532	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		5	34	0	0	0	1	0	5	34				
TMEM45B	120224	broad.mit.edu	37	11	129724588	129724588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:129724588C>T	ENST00000524567.1	+	3	543	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	TMEM45B_ENST00000281441.3_Nonsense_Mutation_p.Q88*			Q96B21	TM45B_HUMAN	transmembrane protein 45B	88						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AATGAATTGGCAGCACAGCAC	0.512																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(262-264)Cag>Tag		transmembrane protein 45B							143.0	131.0	135.0					11																	129724588		2201	4297	6498	SO:0001587	stop_gained	120224					integral to membrane		g.chr11:129724588C>T	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.262C>T	11.37:g.129724588C>T	ENSP00000436293:p.Gln88*					TMEM45B_ENST00000524567.1_Nonsense_Mutation_p.Q88*	p.Q88*	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	3	350	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	88					A8K2L8	Nonsense_Mutation	SNP	ENST00000524567.1	37	c.262C>T	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296707	0.98192	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.5432	18.5819	0.91174	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000281441:Q88X	Q	+	1	0	TMEM45B	129229798	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.601000	0.61090	2.723000	0.93209	0.637000	0.83480	CAG		0.512	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		22	19	0	0	0	1	0	22	19				
ACSL1	2180	broad.mit.edu	37	4	185684393	185684393	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:185684393C>T	ENST00000515030.1	-	16	1774	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	ACSL1_ENST00000513317.1_Silent_p.P483P|ACSL1_ENST00000507295.1_Silent_p.P449P|ACSL1_ENST00000504342.1_Silent_p.P483P|ACSL1_ENST00000454703.2_Silent_p.P312P|ACSL1_ENST00000437665.3_Silent_p.P312P|ACSL1_ENST00000281455.2_Silent_p.P483P			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	483					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCACGGCATCGGGGCCCCAA	0.438																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1447-1449)ccG>ccA		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						57.0	57.0	57.0					4																	185684393		2203	4300	6503	SO:0001819	synonymous_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185684393C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1449G>A	4.37:g.185684393C>T						ACSL1_ENST00000454703.2_Silent_p.P312P|ACSL1_ENST00000504342.1_Silent_p.P483P|ACSL1_ENST00000513317.1_Silent_p.P483P|ACSL1_ENST00000507295.1_Silent_p.P449P|ACSL1_ENST00000437665.3_Silent_p.P312P|ACSL1_ENST00000281455.2_Silent_p.P483P	p.P483P			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	16	1774	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	483					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	c.1449G>A	CCDS3839.1																																																																																				0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		11	21	0	0	0	1	0	11	21				
RP11-478B9.1	0	broad.mit.edu	37	12	45457205	45457205	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:45457205G>A	ENST00000548424.1	+	0	448																											GAGTACAGGTGCATCCTTTCT	0.393																																						ENST00000548424.1																			0																																																			0							g.chr12:45457205G>A																													12.37:g.45457205G>A														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.393	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			6	4	0	0	0	1	0	6	4				
NOXRED1	122945	broad.mit.edu	37	14	77889171	77889171	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77889171C>T	ENST00000380835.2	-	1	228	c.62G>A	c.(61-63)cGt>cAt	p.R21H	NOXRED1_ENST00000298358.3_Missense_Mutation_p.R21H	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	21					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGCCAGATACGATCTTCCTC	0.478																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(61-63)cGt>cAt		NADP-dependent oxidoreductase domain containing 1							138.0	144.0	142.0					14																	77889171		2203	4300	6503	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77889171C>T	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.62G>A	14.37:g.77889171C>T	ENSP00000370215:p.Arg21His					NOXRED1_ENST00000298358.3_Missense_Mutation_p.R21H	p.R21H	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			1	228	-			21					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.62G>A	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475061	0.26511	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.56776	0.46;0.44;0.47	5.99	-2.15	0.07102	.	1.306150	0.04916	N	0.454174	T	0.32496	0.0831	N	0.19112	0.55	0.09310	N	1	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.002	T	0.16748	-1.0392	10	0.38643	T	0.18	-0.1072	3.2367	0.06767	0.1056:0.3679:0.1037:0.4229	.	21;21	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	H	21	ENSP00000370215:R21H;ENSP00000298358:R21H;ENSP00000450597:R21H	ENSP00000298358:R21H	R	-	2	0	C14orf148	76958924	0.000000	0.05858	0.001000	0.08648	0.482000	0.33219	-0.747000	0.04823	-0.103000	0.12175	-0.229000	0.12294	CGT		0.478	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		60	68	0	0	0	1	0	60	68				
INSM1	3642	broad.mit.edu	37	20	20349842	20349842	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20349842G>A	ENST00000310227.1	+	1	1078	c.931G>A	c.(931-933)Gcc>Acc	p.A311T		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	311					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGCCAACCTGGCCTCGCACCG	0.746																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(931-933)Gcc>Acc		insulinoma-associated 1							7.0	7.0	7.0					20																	20349842		2046	4000	6046	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349842G>A		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.931G>A	20.37:g.20349842G>A	ENSP00000312631:p.Ala311Thr						p.A311T	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1078	+			311						Missense_Mutation	SNP	ENST00000310227.1	37	c.931G>A	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498479	0.85069	.	.	ENSG00000173404	ENST00000310227	T	0.50001	0.76	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.51975	0.1706	N	0.16602	0.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54316	-0.8312	10	0.34782	T	0.22	.	15.9712	0.80024	0.0:0.0:1.0:0.0	.	311	Q01101	INSM1_HUMAN	T	311	ENSP00000312631:A311T	ENSP00000312631:A311T	A	+	1	0	INSM1	20297842	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.268000	0.58883	1.913000	0.55393	0.306000	0.20318	GCC		0.746	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		3	5	0	0	0	1	0	3	5				
LDLRAD2	401944	broad.mit.edu	37	1	22140900	22140900	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22140900C>T	ENST00000344642.2	+	2	282	c.95C>T	c.(94-96)gCg>gTg	p.A32V	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A32V	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	32						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCCGACCTGGCGGAACTGTGC	0.692																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(94-96)gCg>gTg		low density lipoprotein receptor class A domain containing 2							9.0	11.0	10.0					1																	22140900		2072	4113	6185	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22140900C>T	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.95C>T	1.37:g.22140900C>T	ENSP00000340988:p.Ala32Val					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A32V	p.A32V	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	282	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	32					B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.95C>T	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223666	0.09863	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.34275	1.37;1.37	4.28	-0.872	0.10638	.	0.711165	0.11881	N	0.520495	T	0.10121	0.0248	N	0.01505	-0.83	0.26937	N	0.966323	B	0.02656	0.0	B	0.04013	0.001	T	0.31558	-0.9939	10	0.13470	T	0.59	-5.6154	3.6229	0.08103	0.1644:0.3168:0.0:0.5188	.	32	Q5SZI1	LRAD2_HUMAN	V	32	ENSP00000340988:A32V;ENSP00000444097:A32V	ENSP00000340988:A32V	A	+	2	0	LDLRAD2	22013487	1.000000	0.71417	0.958000	0.39756	0.539000	0.34962	1.643000	0.37217	-0.346000	0.08312	0.297000	0.19635	GCG		0.692	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		12	11	0	0	0	1	0	12	11				
PRICKLE2	166336	broad.mit.edu	37	3	64133336	64133336	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64133336T>C	ENST00000295902.6	-	7	1415	c.830A>G	c.(829-831)cAt>cGt	p.H277R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.H333R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	277	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGTGGCATGCCAGTGTTG	0.542																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(829-831)cAt>cGt		prickle homolog 2 (Drosophila)							75.0	76.0	76.0					3																	64133336		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133336T>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.830A>G	3.37:g.64133336T>C	ENSP00000295902:p.His277Arg					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.H333R	p.H277R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1415	-		Lung NSC(201;0.136)	277			LIM zinc-binding 3.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.830A>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076204	0.55646	.	.	ENSG00000163637	ENST00000295902	D	0.96334	-3.98	6.08	6.08	0.98989	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99174	1.0865	10	0.87932	D	0	-35.3353	16.6438	0.85155	0.0:0.0:0.0:1.0	.	277	Q7Z3G6	PRIC2_HUMAN	R	277	ENSP00000295902:H277R	ENSP00000295902:H277R	H	-	2	0	PRICKLE2	64108376	1.000000	0.71417	0.966000	0.40874	0.185000	0.23345	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	CAT		0.542	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		27	42	0	0	0	1	0	27	42				
RRAD	6236	broad.mit.edu	37	16	66956145	66956145	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66956145C>T	ENST00000299759.6	-	5	1011	c.761G>A	c.(760-762)cGc>cAc	p.R254H	RRAD_ENST00000420652.1_Missense_Mutation_p.R254H			P55042	RAD_HUMAN	Ras-related associated with diabetes	254					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R254H(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTGTCCCTGCGCAGGCGTAT	0.592																																						ENST00000299759.6																			1	Substitution - Missense(1)	p.R254H(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(760-762)cGc>cAc		Ras-related associated with diabetes							89.0	68.0	75.0					16																	66956145		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956145C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.761G>A	16.37:g.66956145C>T	ENSP00000299759:p.Arg254His					RRAD_ENST00000420652.1_Missense_Mutation_p.R254H	p.R254H			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1011	-		Ovarian(137;0.192)	254					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.761G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442921	0.96187	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.80304	-1.36;-1.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89783	0.3962	10	0.87932	D	0	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	254	P55042	RAD_HUMAN	H	254	ENSP00000388744:R254H;ENSP00000299759:R254H	ENSP00000299759:R254H	R	-	2	0	RRAD	65513646	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.484000	0.81180	2.802000	0.96397	0.561000	0.74099	CGC		0.592	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		14	29	0	0	0	1	0	14	29				
CA8	767	broad.mit.edu	37	8	61178597	61178597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:61178597C>A	ENST00000317995.4	-	3	568	c.304G>T	c.(304-306)Gga>Tga	p.G102*		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	102					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GGCAATGGTCCTCCCGAAAGA	0.383																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(304-306)Gga>Tga		carbonic anhydrase VIII							63.0	60.0	61.0					8																	61178597		2203	4300	6503	SO:0001587	stop_gained	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178597C>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.304G>T	8.37:g.61178597C>A	ENSP00000314407:p.Gly102*						p.G102*	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	568	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	102					A8K0A5|B3KQZ7|Q32MY2	Nonsense_Mutation	SNP	ENST00000317995.4	37	c.304G>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546338	0.98352	.	.	ENSG00000178538	ENST00000317995	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5923	0.95520	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000314407:G102X	G	-	1	0	CA8	61341151	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.644000	0.89710	0.557000	0.71058	GGA		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			12	31	1	0	2.80697e-09	1	2.97546e-09	12	31				
WHSC1	7468	broad.mit.edu	37	4	1961236	1961236	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1961236G>A	ENST00000382895.3	+	19	3455	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	WHSC1_ENST00000382891.5_Silent_p.A1008A|WHSC1_ENST00000508803.1_Silent_p.A1008A|WHSC1_ENST00000382888.3_Silent_p.A356A|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Silent_p.A1008A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1008					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTACACAGCGGATATTTCAG	0.488			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3022-3024)gcG>gcA		Wolf-Hirschhorn syndrome candidate 1							67.0	59.0	61.0					4																	1961236		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1961236G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3024G>A	4.37:g.1961236G>A						WHSC1_ENST00000508803.1_Silent_p.A1008A|WHSC1_ENST00000382891.5_Silent_p.A1008A|WHSC1_ENST00000382892.2_Silent_p.A1008A|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.A356A	p.A1008A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	19	3455	+		all_epithelial(65;1.34e-05)	1008					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.3024G>A	CCDS33940.1																																																																																				0.488	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		17	19	0	0	0	1	0	17	19				
FAM183B	340286	broad.mit.edu	37	7	38725623	38725623	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:38725623G>A	ENST00000409072.3	-	0	917							Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GGGCTGCTCCGTGGGTCCGGG	0.617																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8								family with sequence similarity 183, member B							41.0	43.0	42.0					7																	38725623		1956	4141	6097			340286							g.chr7:38725623G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.-18C>T	7.37:g.38725623G>A														0	917	-								A4D1Y1	Translation_Start_Site	SNP	ENST00000409072.3	37																																																																																						0.617	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		17	15	0	0	0	1	0	17	15				
NPY4R	5540	broad.mit.edu	37	10	47087266	47087266	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:47087266G>A	ENST00000395716.1	+	2	568	c.483G>A	c.(481-483)gtG>gtA	p.V161V	NPY4R_ENST00000374312.1_Silent_p.V161V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	161					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGGGGATTGTGCTCATCTGGG	0.582																																						ENST00000374312.1																			0											c.(481-483)gtG>gtA		neuropeptide Y receptor Y4							231.0	186.0	201.0					10																	47087266		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087266G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.483G>A	10.37:g.47087266G>A						NPY4R_ENST00000395716.1_Silent_p.V161V	p.V161V	NM_005972.4	NP_005963.3					3	902	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.483G>A	CCDS31193.1																																																																																				0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			21	101	0	0	0	1	0	21	101				
LRP3	4037	broad.mit.edu	37	19	33697049	33697049	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33697049G>A	ENST00000253193.7	+	5	1575	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	458	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.			G -> D (in Ref. 4; BAG51998). {ECO:0000305}.	receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGCCAGCCCGGCACCTTCCAC	0.642																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1372-1374)gGc>gAc		low density lipoprotein receptor-related protein 3							34.0	32.0	32.0					19																	33697049		2202	4300	6502	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697049G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1373G>A	19.37:g.33697049G>A	ENSP00000253193:p.Gly458Asp						p.G458D	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1575	+	Esophageal squamous(110;0.137)		458	G -> D (in Ref. 4; BAG51998).		LDL-receptor class A 4.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1373G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811535	0.70797	.	.	ENSG00000130881	ENST00000253193	D	0.95103	-3.61	5.35	5.35	0.76521	.	0.056570	0.64402	D	0.000001	D	0.95242	0.8457	L	0.35593	1.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93838	0.7134	10	0.25751	T	0.34	-23.1434	18.0406	0.89318	0.0:0.0:1.0:0.0	.	458;376	O75074;B7ZAJ9	LRP3_HUMAN;.	D	458	ENSP00000253193:G458D	ENSP00000253193:G458D	G	+	2	0	LRP3	38388889	1.000000	0.71417	0.994000	0.49952	0.439000	0.31926	9.815000	0.99349	2.518000	0.84900	0.491000	0.48974	GGC		0.642	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			8	3	0	0	0	1	0	8	3				
FUZ	80199	broad.mit.edu	37	19	50310485	50310485	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50310485G>A	ENST00000313777.4	-	11	1343	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Silent_p.L344L|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Silent_p.L358L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TGGGGAGACAGCAGCAGCAGC	0.637																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)Ctg>Ttg		fuzzy planar cell polarity protein							53.0	51.0	51.0					19																	50310485		2203	4300	6503	SO:0001819	synonymous_variant	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310485G>A	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180C>T	19.37:g.50310485G>A						FUZ_ENST00000533418.1_Silent_p.L344L|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Silent_p.L358L	p.L394L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	ENST00000313777.4	37	c.1180C>T	CCDS12781.1																																																																																				0.637	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		4	38	0	0	0	1	0	4	38				
SYT15	83849	broad.mit.edu	37	10	46967493	46967493	+	Missense_Mutation	SNP	C	C	T	rs201664076		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46967493C>T	ENST00000374321.4	-	4	650	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SYT15_ENST00000374323.4_Missense_Mutation_p.R248H|SYT15_ENST00000503753.1_Missense_Mutation_p.R195H|SYT15_ENST00000374325.3_Missense_Mutation_p.R195H|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	195	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTGGAGGAAGCGCCGCTCATC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		37472	0.001		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(742-744)cGc>cAc		synaptotagmin XV		C	HIS/ARG,HIS/ARG	0,4192		0,0,2096	87.0	100.0	96.0		584,584	3.1	1.0	10		96	2,8458		0,2,4228	no	missense,missense	SYT15	NM_031912.4,NM_181519.2	29,29	0,2,6324	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging,probably-damaging	195/422,195/391	46967493	2,12650	2096	4230	6326	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967493C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.584G>A	10.37:g.46967493C>T	ENSP00000363441:p.Arg195His					SYT15_ENST00000374321.4_Missense_Mutation_p.R195H|SYT15_ENST00000374325.3_Missense_Mutation_p.R195H|SYT15_ENST00000503753.1_Missense_Mutation_p.R195H	p.R248H			Q9BQS2	SYT15_HUMAN			3	1330	-			195			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.743G>A	CCDS44376.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	16.10	3.026123	0.54683	0.0	2.36E-4	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.92	3.07	0.35406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.172136	0.51477	D	0.000081	T	0.60573	0.2279	L	0.58510	1.815	0.39969	D	0.974762	P;P	0.39157	0.662;0.598	B;B	0.39590	0.271;0.304	T	0.57963	-0.7720	9	.	.	.	.	9.8358	0.40968	0.0:0.8484:0.0:0.1516	.	195;195	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	H	195;195;195;34;248;195;79	ENSP00000363445:R195H;ENSP00000427607:R195H;ENSP00000363443:R248H;ENSP00000363441:R195H;ENSP00000424803:R79H	.	R	-	2	0	SYT15	46387499	0.344000	0.24827	0.999000	0.59377	0.998000	0.95712	0.763000	0.26517	0.600000	0.29862	0.655000	0.94253	CGC		0.612	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		13	91	0	0	0	1	0	13	91				
MSH3	4437	broad.mit.edu	37	5	79952260	79952260	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79952260C>T	ENST00000265081.6	+	2	348	c.268C>T	c.(268-270)Cca>Tca	p.P90S	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	90	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAAGAAGAGACCATTGGAAAA	0.408								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(268-270)Cca>Tca	Mismatch excision repair (MMR)	mutS homolog 3							127.0	132.0	130.0					5																	79952260		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952260C>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.268C>T	5.37:g.79952260C>T	ENSP00000265081:p.Pro90Ser						p.P90S	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	348	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	90			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.268C>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316222	0.10789	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.85556	-2.0	4.83	-1.63	0.08345	.	0.929946	0.08966	N	0.867951	T	0.65575	0.2704	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49153	-0.8969	9	.	.	.	-2.6995	0.835	0.01138	0.2035:0.2791:0.3066:0.2108	.	90	P20585	MSH3_HUMAN	S	90;81	ENSP00000265081:P90S	.	P	+	1	0	MSH3	79988016	0.018000	0.18449	0.103000	0.21229	0.588000	0.36517	-0.654000	0.05354	-0.068000	0.12953	0.563000	0.77884	CCA		0.408	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		32	50	0	0	0	1	0	32	50				
FAT4	79633	broad.mit.edu	37	4	126337678	126337678	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126337678G>A	ENST00000394329.3	+	6	6932	c.6919G>A	c.(6919-6921)Gct>Act	p.A2307T	FAT4_ENST00000335110.5_Missense_Mutation_p.A605T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2307	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAGACAATGCTTTTACTCT	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6919-6921)Gct>Act		FAT atypical cadherin 4							286.0	274.0	278.0					4																	126337678		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337678G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6919G>A	4.37:g.126337678G>A	ENSP00000377862:p.Ala2307Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A605T	p.A2307T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6932	+			2307			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6919G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589339	0.28357	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.50813	0.73;0.73	5.23	1.54	0.23209	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004241	T	0.42517	0.1206	N	0.14661	0.345	0.45439	D	0.998414	D;D	0.76494	0.999;0.999	D;D	0.74023	0.98;0.982	T	0.22208	-1.0223	10	0.22109	T	0.4	.	6.631	0.22857	0.2034:0.0:0.6709:0.1257	.	605;2307	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2307;605	ENSP00000377862:A2307T;ENSP00000335169:A605T	ENSP00000335169:A605T	A	+	1	0	FAT4	126557128	1.000000	0.71417	0.043000	0.18650	0.016000	0.09150	3.932000	0.56537	-0.021000	0.14009	-1.002000	0.02502	GCT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		15	113	0	0	0	1	0	15	113				
ANKS1A	23294	broad.mit.edu	37	6	35051201	35051201	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35051201C>T	ENST00000360359.3	+	20	3053	c.2915C>T	c.(2914-2916)aCg>aTg	p.T972M	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	972	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGAAATCTACGGAGCACATG	0.532																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2914-2916)aCg>aTg		ankyrin repeat and sterile alpha motif domain containing 1A							182.0	153.0	163.0					6																	35051201		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:35051201C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2915C>T	6.37:g.35051201C>T	ENSP00000353518:p.Thr972Met					ANKS1A_ENST00000535627.1_Intron	p.T972M	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			20	3053	+			972			PID.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.2915C>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200667	0.79015	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.20738	2.05	4.76	4.76	0.60689	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.47852	D	0.000218	T	0.38453	0.1041	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.985;1.0	T	0.36648	-0.9739	10	0.87932	D	0	-15.847	17.7722	0.88496	0.0:1.0:0.0:0.0	.	298;298;972	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	M	972;298	ENSP00000353518:T972M	ENSP00000353518:T972M	T	+	2	0	ANKS1A	35159179	1.000000	0.71417	0.894000	0.35097	0.675000	0.39556	5.934000	0.70138	2.194000	0.70268	0.655000	0.94253	ACG		0.532	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		14	56	0	0	0	1	0	14	56				
MMP12	4321	broad.mit.edu	37	11	102742417	102742417	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102742417C>A	ENST00000532855.1	-	0	628							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGATTCCACCTTTGCCATCA	0.443																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						49.0	48.0	48.0					11																	102742417		1908	4128	6036			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742417C>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742417C>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	628	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.443	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	9	1	0	0.150653	1	0.151081	4	9				
CRHR1	1394	broad.mit.edu	37	17	43907851	43907851	+	Silent	SNP	C	C	T	rs368177064		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43907851C>T	ENST00000398285.3	+	8	711	c.711C>T	c.(709-711)ggC>ggT	p.G237G	CRHR1_ENST00000314537.5_Silent_p.G208G|CRHR1_ENST00000352855.5_Silent_p.G168G|CRHR1_ENST00000339069.5_Silent_p.G107G|CRHR1_ENST00000293493.7_Silent_p.G33G|CRHR1_ENST00000577353.1_Silent_p.G208G	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	237					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGATGTTCGGCGAGGGCTGCT	0.587																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(622-624)ggC>ggT		corticotropin releasing hormone receptor 1							93.0	96.0	95.0					17																	43907851		2203	4300	6503	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907851C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.711C>T	17.37:g.43907851C>T						CRHR1_ENST00000398285.3_Silent_p.G237G|CRHR1_ENST00000577353.1_Silent_p.G208G|CRHR1_ENST00000293493.7_Silent_p.G33G|CRHR1_ENST00000352855.5_Silent_p.G168G|CRHR1_ENST00000339069.5_Silent_p.G107G	p.G208G	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	849	+	Colorectal(2;0.0416)		237					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.624C>T	CCDS45712.1																																																																																				0.587	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			34	47	0	0	0	1	0	34	47				
CEP104	9731	broad.mit.edu	37	1	3755674	3755674	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3755674G>A	ENST00000378230.3	-	8	1069	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	249						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTCCCAAGGCGTTCACCAACC	0.453																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(745-747)Cgc>Tgc		centrosomal protein 104kDa							116.0	106.0	109.0					1																	3755674		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3755674G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.745C>T	1.37:g.3755674G>A	ENSP00000367476:p.Arg249Cys						p.R249C	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			8	1069	-			249					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.745C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054734	0.55325	.	.	ENSG00000116198	ENST00000378230;ENST00000443466;ENST00000428079	T;T	0.60299	1.3;0.2	5.25	5.25	0.73442	.	0.061993	0.64402	D	0.000003	T	0.78710	0.4326	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.978;0.997	T	0.82440	-0.0456	10	0.87932	D	0	.	15.9911	0.80206	0.0:0.0:1.0:0.0	.	249;249	O60308-3;O60308	.;CE104_HUMAN	C	249;1;191	ENSP00000367476:R249C;ENSP00000411927:R1C	ENSP00000367476:R249C	R	-	1	0	CEP104	3745534	1.000000	0.71417	0.971000	0.41717	0.419000	0.31324	5.111000	0.64628	2.450000	0.82876	0.655000	0.94253	CGC		0.453	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		32	52	0	0	0	1	0	32	52				
TIMM50	92609	broad.mit.edu	37	19	39979204	39979204	+	Silent	SNP	C	C	T	rs571764361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39979204C>T	ENST00000607714.1	+	10	901	c.879C>T	c.(877-879)gaC>gaT	p.D293D	TIMM50_ENST00000544017.1_Silent_p.D180D|TIMM50_ENST00000599794.1_Silent_p.D97D|TIMM50_ENST00000314349.4_Silent_p.D396D			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	293					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTGTGGAGGACGTGCGAACCG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18973	0.0		0.0	False		,,,				2504	0.001					ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(1186-1188)gaC>gaT		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							142.0	142.0	142.0					19																	39979204		2203	4300	6503	SO:0001819	synonymous_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39979204C>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.879C>T	19.37:g.39979204C>T						TIMM50_ENST00000599794.1_Silent_p.D97D|TIMM50_ENST00000607714.1_Silent_p.D293D|TIMM50_ENST00000544017.1_Silent_p.D180D	p.D396D	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		10	1321	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		293					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37	c.1188C>T																																																																																					0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		26	132	0	0	0	1	0	26	132				
BDNF	627	broad.mit.edu	37	11	27722532	27722532	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27722532C>A	ENST00000395983.3	-	0	68				BDNF_ENST00000418212.1_5'Flank|BDNF_ENST00000395986.2_5'Flank|BDNF_ENST00000533246.1_5'Flank|BDNF_ENST00000530861.1_5'Flank|BDNF_ENST00000420794.1_De_novo_Start_OutOfFrame|BDNF_ENST00000438929.1_De_novo_Start_OutOfFrame|BDNF_ENST00000356660.4_5'Flank|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000533131.1_5'Flank|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000314915.6_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395981.3_Intron	NM_001143808.1|NM_001143809.1	NP_001137280.1|NP_001137281.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CCGCACCTTCCTGCACTACGG	0.572																																						ENST00000420794.1																			0				breast(1)|large_intestine(3)|lung(2)	6								brain-derived neurotrophic factor							49.0	47.0	47.0					11																	27722532		1566	3564	5130			627					extracellular region	growth factor activity	g.chr11:27722532C>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000395983.3:c.-36G>T	11.37:g.27722532C>A						BDNF_ENST00000395978.3_Intron|BDNF_ENST00000395983.3_De_novo_Start_OutOfFrame|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000438929.1_De_novo_Start_OutOfFrame|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395981.3_Intron|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000532997.1_Intron		NM_001143811.1	NP_001137283.1	P23560	BDNF_HUMAN			0	68	-								A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Translation_Start_Site	SNP	ENST00000395983.3	37		CCDS7866.1																																																																																				0.572	BDNF-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388101.1	NM_170735		5	7	1	0	8.12818e-05	1	8.34155e-05	5	7				
CERS2	29956	broad.mit.edu	37	1	150940568	150940568	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150940568C>T	ENST00000271688.6	-	4	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_Missense_Mutation_p.R125Q|CERS2_ENST00000368954.5_Missense_Mutation_p.R134Q|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	134	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGCTTCTCGGAACTTCTT	0.627																																						ENST00000271688.6																			0											c.(400-402)cGa>cAa		ceramide synthase 2							63.0	65.0	64.0					1																	150940568		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940568C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.401G>A	1.37:g.150940568C>T	ENSP00000271688:p.Arg134Gln					CERS2_ENST00000368954.5_Missense_Mutation_p.R134Q|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.R125Q	p.R134Q	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			4	787	-			134			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.401G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087205	0.55968	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.84442	-1.85;-1.85;-1.85;-1.85;2.35	4.9	4.9	0.64082	TRAM/LAG1/CLN8 homology domain (3);	0.142017	0.46758	D	0.000271	T	0.63534	0.2519	N	0.20445	0.575	0.58432	D	0.999997	B	0.17667	0.023	B	0.06405	0.002	T	0.62201	-0.6904	10	0.12430	T	0.62	-4.7369	17.8863	0.88855	0.0:1.0:0.0:0.0	.	134	Q96G23	CERS2_HUMAN	Q	134;134;154;134;134	ENSP00000357950:R134Q;ENSP00000271688:R134Q;ENSP00000357945:R154Q;ENSP00000355020:R134Q;ENSP00000393239:R134Q	ENSP00000271688:R134Q	R	-	2	0	CERS2	149207192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.552000	0.67281	2.543000	0.85770	0.655000	0.94253	CGA		0.627	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		24	37	0	0	0	1	0	24	37				
KIAA0586	9786	broad.mit.edu	37	14	58894966	58894966	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58894966G>A	ENST00000556134.1	+	2	236				TIMM9_ENST00000555593.1_5'Flank|KIAA0586_ENST00000354386.6_Missense_Mutation_p.C7Y|TIMM9_ENST00000556007.2_5'Flank|TIMM9_ENST00000216463.4_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000395159.2_5'Flank|TIMM9_ENST00000555404.1_5'Flank|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_5'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTGGGACTTGTTTTGTGACC	0.363																																						ENST00000354386.6																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(19-21)tGt>tAt		KIAA0586							61.0	55.0	57.0					14																	58894966		1835	4099	5934	SO:0001627	intron_variant	9786							g.chr14:58894966G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.-38-24G>A	14.37:g.58894966G>A						KIAA0586_ENST00000556134.1_Intron|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_5'UTR	p.C7Y	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN			2	264	+			0					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.20G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073075	0.08485	.	.	ENSG00000100578	ENST00000354386	T	0.47528	0.84	4.8	3.82	0.43975	.	.	.	.	.	T	0.43211	0.1237	.	.	.	0.29170	N	0.877214	.	.	.	.	.	.	T	0.35425	-0.9789	6	0.41790	T	0.15	.	7.1375	0.25537	0.1242:0.0:0.8758:0.0	.	.	.	.	Y	7	ENSP00000346359:C7Y	ENSP00000346359:C7Y	C	+	2	0	KIAA0586	57964719	0.002000	0.14202	0.256000	0.24389	0.091000	0.18340	0.578000	0.23773	2.482000	0.83794	0.655000	0.94253	TGT		0.363	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		3	9	0	0	0	1	0	3	9				
PSMD1	5707	broad.mit.edu	37	2	231943409	231943409	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231943409G>A	ENST00000308696.6	+	10	1270	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	PSMD1_ENST00000409643.1_Missense_Mutation_p.V370I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V370I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TACTGCAACCGTTATAGCAAA	0.368																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1108-1110)Gtt>Att		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						128.0	121.0	124.0					2																	231943409		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943409G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1108G>A	2.37:g.231943409G>A	ENSP00000309474:p.Val370Ile					PSMD1_ENST00000373635.4_Missense_Mutation_p.V370I|PSMD1_ENST00000409643.1_Missense_Mutation_p.V370I	p.V370I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1270	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	370					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1108G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738860	0.69304	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.66439	2.03	0.80722	D	1	D;D	0.58620	0.977;0.983	P;P	0.48952	0.481;0.596	T	0.60677	-0.7216	9	0.20519	T	0.43	-20.7363	19.7837	0.96428	0.0:0.0:1.0:0.0	.	370;370	Q99460;Q99460-2	PSMD1_HUMAN;.	I	370	.	ENSP00000309474:V370I	V	+	1	0	PSMD1	231651653	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	9.785000	0.99042	2.670000	0.90874	0.585000	0.79938	GTT		0.368	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			41	79	0	0	0	1	0	41	79				
RARA	5914	broad.mit.edu	37	17	38508633	38508633	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38508633G>T	ENST00000254066.5	+	6	1136	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RARA_ENST00000394081.3_Missense_Mutation_p.K222N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Missense_Mutation_p.K130N|RARA_ENST00000394086.3_Missense_Mutation_p.K243N|RARA_ENST00000394089.2_Missense_Mutation_p.K227N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	227	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCTGGGACAAGTTCAGTGAAC	0.567			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(679-681)aaG>aaT		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						174.0	144.0	154.0					17																	38508633		2203	4300	6503	SO:0001583	missense	0				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38508633G>T	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.681G>T	17.37:g.38508633G>T	ENSP00000254066:p.Lys227Asn					RARA_ENST00000425707.3_Missense_Mutation_p.K130N|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.K222N|RARA_ENST00000394086.3_Missense_Mutation_p.K243N|RARA_ENST00000394089.2_Missense_Mutation_p.K227N	p.K227N	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		6	1136	+		Breast(137;0.00328)	227			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.681G>T	CCDS11366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331209|1.331209	0.24167|0.24167	.|.	.|.	ENSG00000131759|ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000420042|ENST00000319149	D;D;D;D;D|.	0.96491|.	-4.03;-4.03;-4.03;-4.03;-4.03|.	4.34|4.34	3.36|3.36	0.38483|0.38483	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);|.	.|1.037060	.|0.07634	.|N	.|0.929185	T|T	0.48714|0.48714	0.1515|0.1515	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	0.999;0.949;1.0|.	D;D;D|.	0.73708|.	0.915;0.914;0.981|.	T|T	0.09885|0.09885	-1.0654|-1.0654	9|7	0.22109|0.21540	T|T	0.4|0.41	.|.	11.3797|11.3797	0.49750|0.49750	0.0911:0.0:0.9089:0.0|0.0911:0.0:0.9089:0.0	.|.	130;222;227|.	B8Y636;F1D8N9;P10276|.	.;.;RARA_HUMAN|.	N|I	227;130;227;243;222;114|221	ENSP00000254066:K227N;ENSP00000389993:K130N;ENSP00000377649:K227N;ENSP00000377648:K243N;ENSP00000377643:K222N|.	ENSP00000254066:K227N|ENSP00000316769:S221I	K|S	+|+	3|2	2|0	RARA|RARA	35762159|35762159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.449000|0.449000	0.32228|0.32228	3.304000|3.304000	0.51866|0.51866	1.018000|1.018000	0.39521|0.39521	0.460000|0.460000	0.39030|0.39030	AAG|AGT		0.567	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			36	60	1	0	9.73076e-26	1	1.08706e-25	36	60				
GPSM2	29899	broad.mit.edu	37	1	109465125	109465125	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109465125T>C	ENST00000406462.2	+	14	2300	c.1527T>C	c.(1525-1527)tgT>tgC	p.C509C	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Silent_p.C509C			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	509	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATCAGAGATGTTGCTTACAAG	0.378																																						ENST00000406462.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(1525-1527)tgT>tgC		G-protein signaling modulator 2							161.0	158.0	159.0					1																	109465125		2203	4300	6503	SO:0001819	synonymous_variant	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109465125T>C	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1527T>C	1.37:g.109465125T>C						GPSM2_ENST00000264126.3_Silent_p.C509C|AKNAD1_ENST00000357393.4_Intron	p.C509C			P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	14	2300	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	509			GoLoco 1.		Q5T1N8|Q6IBL7|Q8N0Z5	Silent	SNP	ENST00000406462.2	37	c.1527T>C	CCDS792.2	.	.	.	.	.	.	.	.	.	.	T	0.772	-0.765352	0.02996	.	.	ENSG00000121957	ENST00000441735	.	.	.	6.17	-1.47	0.08772	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36986	-0.9725	4	.	.	.	-8.8353	7.8365	0.29374	0.0:0.3548:0.1137:0.5315	.	.	.	.	A	99	.	.	V	+	2	0	GPSM2	109266648	0.973000	0.33851	0.928000	0.36995	0.000000	0.00434	0.268000	0.18571	-0.283000	0.09115	-1.117000	0.02048	GTT		0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		42	72	0	0	0	1	0	42	72				
RHAG	6005	broad.mit.edu	37	6	49582447	49582447	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:49582447C>A	ENST00000371175.4	-	5	786	c.760G>T	c.(760-762)Gcc>Tcc	p.A254S	RHAG_ENST00000229810.7_Missense_Mutation_p.A254S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	254					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAGGCAAAGGCTGTGAGCACA	0.522																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(760-762)Gcc>Tcc		Rh-associated glycoprotein							200.0	170.0	180.0					6																	49582447		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582447C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.760G>T	6.37:g.49582447C>A	ENSP00000360217:p.Ala254Ser					RHAG_ENST00000229810.7_Missense_Mutation_p.A254S	p.A254S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			5	786	-	Lung NSC(77;0.0255)		254					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.760G>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	5.715	0.316380	0.10789	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.26223	1.75;1.75	5.76	-3.22	0.05125	Ammonium transporter AmtB-like (3);	0.411460	0.30528	N	0.009436	T	0.08714	0.0216	M	0.64676	1.99	0.25231	N	0.98982	B;B;B	0.22983	0.078;0.025;0.025	B;B;B	0.31390	0.129;0.034;0.052	T	0.35201	-0.9798	10	0.33141	T	0.24	-0.3167	5.8162	0.18494	0.2108:0.3348:0.0:0.4544	.	254;254;254	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	S	254	ENSP00000360217:A254S;ENSP00000229810:A254S	ENSP00000229810:A254S	A	-	1	0	RHAG	49690406	0.407000	0.25352	0.001000	0.08648	0.027000	0.11550	0.690000	0.25451	-0.725000	0.04901	-0.150000	0.13652	GCC		0.522	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			9	55	1	0	0.000442599	1	0.000451009	9	55				
CACNA1E	777	broad.mit.edu	37	1	181686338	181686338	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181686338C>T	ENST00000367573.2	+	11	1425	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	CACNA1E_ENST00000367567.4_Silent_p.S82S|CACNA1E_ENST00000367570.1_Silent_p.S475S|CACNA1E_ENST00000526775.1_Silent_p.S475S|CACNA1E_ENST00000360108.3_Silent_p.S475S|CACNA1E_ENST00000358338.5_Silent_p.S426S|CACNA1E_ENST00000357570.5_Silent_p.S426S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	475					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTTAAATCCCAGGTGTTTT	0.537																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1423-1425)tcC>tcT		calcium channel, voltage-dependent, R type, alpha 1E subunit							109.0	110.0	110.0					1																	181686338		1976	4153	6129	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181686338C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1425C>T	1.37:g.181686338C>T						CACNA1E_ENST00000367570.1_Silent_p.S475S|CACNA1E_ENST00000360108.3_Silent_p.S475S|CACNA1E_ENST00000367567.4_Silent_p.S82S|CACNA1E_ENST00000367573.2_Silent_p.S475S|CACNA1E_ENST00000357570.5_Silent_p.S426S|CACNA1E_ENST00000358338.5_Silent_p.S426S	p.S475S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			11	1590	+			475					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.1425C>T	CCDS55664.1																																																																																				0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		22	27	0	0	0	1	0	22	27				
TNXB	7148	broad.mit.edu	37	6	32056719	32056719	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32056719G>A	ENST00000375244.3	-	6	2823	c.2622C>T	c.(2620-2622)taC>taT	p.Y874Y	TNXB_ENST00000375247.2_Silent_p.Y874Y			P22105	TENX_HUMAN	tenascin XB	826	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCACTGACGTAGGACACCA	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2620-2622)taC>taT		tenascin XB							36.0	42.0	40.0					6																	32056719		2157	4254	6411	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32056719G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2622C>T	6.37:g.32056719G>A						TNXB_ENST00000375247.2_Silent_p.Y874Y	p.Y874Y			P22105	TENX_HUMAN			6	2823	-			826					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.2622C>T																																																																																					0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	4	0	0	0	1	0	4	4				
FUBP1	8880	broad.mit.edu	37	1	78426039	78426039	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78426039G>A	ENST00000370768.2	-	15	1567	c.1486C>T	c.(1486-1488)Ccg>Tcg	p.P496S	FUBP1_ENST00000370767.1_Missense_Mutation_p.P496S|FUBP1_ENST00000436586.2_Missense_Mutation_p.P517S	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	496	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGGAGCCGGGCCTGGTGGT	0.522			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1486-1488)Ccg>Tcg		far upstream element (FUSE) binding protein 1							39.0	45.0	43.0					1																	78426039		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426039G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1486C>T	1.37:g.78426039G>A	ENSP00000359804:p.Pro496Ser					FUBP1_ENST00000370768.2_Missense_Mutation_p.P496S|FUBP1_ENST00000436586.2_Missense_Mutation_p.P517S	p.P496S			Q96AE4	FUBP1_HUMAN			15	1573	-			496			Pro-rich.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1486C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772700	0.31411	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.33438	1.43;1.41;1.43	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.58810	1.83	0.51482	D	0.999926	P;P	0.37594	0.601;0.601	B;B	0.38264	0.269;0.269	T	0.03184	-1.1063	10	0.19590	T	0.45	-11.185	19.9795	0.97321	0.0:0.0:1.0:0.0	.	517;496	B4DT31;Q96AE4	.;FUBP1_HUMAN	S	495;496;496;481;517	ENSP00000359803:P496S;ENSP00000359804:P496S;ENSP00000389536:P517S	ENSP00000294623:P495S	P	-	1	0	FUBP1	78198627	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.761000	0.68801	2.720000	0.93068	0.650000	0.86243	CCG		0.522	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	19	0	0	0	1	0	9	19				
RCCD1	91433	broad.mit.edu	37	15	91505006	91505006	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91505006T>C	ENST00000556618.1	+	8	1258		c.e8+2		RCCD1_ENST00000555155.1_3'UTR|RCCD1_ENST00000394258.2_3'UTR			A6NED2	RCCD1_HUMAN	RCC1 domain containing 1							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CTGACATGTGTACGTATATGT	0.502																																						ENST00000556618.1																			0				breast(1)|kidney(1)|large_intestine(2)	4						c.e8+2		RCC1 domain containing 1							129.0	127.0	128.0					15																	91505006		2198	4298	6496	SO:0001630	splice_region_variant	91433							g.chr15:91505006T>C		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000556618.1:c.1128+2T>C	15.37:g.91505006T>C						RCCD1_ENST00000555155.1_3'UTR|RCCD1_ENST00000394258.2_3'UTR				A6NED2	RCCD1_HUMAN	Lung(145;0.189)		8	1258	+	Lung NSC(78;0.0987)|all_lung(78;0.175)							B2RTP9|Q29RX6	Splice_Site	SNP	ENST00000556618.1	37		CCDS32333.1																																																																																				0.502	RCCD1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414754.1	NM_033544	Intron	26	42	0	0	0	1	0	26	42				
SLC6A16	28968	broad.mit.edu	37	19	49814513	49814513	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49814513G>A	ENST00000335875.4	-	2	333	c.92C>T	c.(91-93)aCg>aTg	p.T31M	SLC6A16_ENST00000454748.3_Missense_Mutation_p.T31M|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	31					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTCTTCCCACGTTTGACTTCC	0.557																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(91-93)aCg>aTg		solute carrier family 6, member 16							85.0	82.0	83.0					19																	49814513		2015	4173	6188	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814513G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.92C>T	19.37:g.49814513G>A	ENSP00000338627:p.Thr31Met					SLC6A16_ENST00000335875.4_Missense_Mutation_p.T31M	p.T31M			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	293	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	31					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.92C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630771	0.46944	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74421	-0.84;-0.8	4.16	-7.19	0.01500	.	26.323400	0.00166	N	0.000000	T	0.58424	0.2121	N	0.24115	0.695	0.09310	N	1	B;B	0.31318	0.319;0.319	B;B	0.14578	0.011;0.011	T	0.55186	-0.8180	10	0.72032	D	0.01	.	13.1016	0.59222	0.759:0.0:0.241:0.0	.	31;31	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	M	31	ENSP00000338627:T31M;ENSP00000404022:T31M	ENSP00000338627:T31M	T	-	2	0	SLC6A16	54506325	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.552000	0.00927	-1.392000	0.02082	0.585000	0.79938	ACG		0.557	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		35	25	0	0	0	1	0	35	25				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976906	29976906	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29976906C>T	ENST00000376797.3	-	0	773				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TCTCACAGGACGTTTTCTTCC	0.507																																						ENST00000376797.3																			0																																																			0							g.chr6:29976906C>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976906C>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	773	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.507	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		27	36	0	0	0	1	0	27	36				
PIAS3	10401	broad.mit.edu	37	1	145578061	145578061	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145578061G>A	ENST00000393045.2	+	2	114		c.e2-1		PIAS3_ENST00000369299.3_Splice_Site|PIAS3_ENST00000369298.1_Splice_Site	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3						positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTCTCCACAGCACATGGTGA	0.582																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.e2-1		protein inhibitor of activated STAT, 3							95.0	87.0	90.0					1																	145578061		2203	4300	6503	SO:0001630	splice_region_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578061G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.25-1G>A	1.37:g.145578061G>A						PIAS3_ENST00000369299.3_Splice_Site|PIAS3_ENST00000369298.1_Splice_Site		NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			2	114	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)							Q9UFI3	Splice_Site	SNP	ENST00000393045.2	37		CCDS920.2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059709	0.55325	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5229	0.56069	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIAS3	144289418	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	9.644000	0.98468	1.774000	0.52232	0.484000	0.47621	.		0.582	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	Intron	27	57	0	0	0	1	0	27	57				
PPP1R12C	54776	broad.mit.edu	37	19	55603041	55603041	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55603041C>T	ENST00000263433.3	-	21	2254	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A684T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A672T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCAGCTCTGCGGCCTTGCGT	0.692																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2239-2241)Gca>Aca		protein phosphatase 1, regulatory subunit 12C							21.0	22.0	22.0					19																	55603041		2200	4299	6499	SO:0001583	missense	54776					cytoplasm		g.chr19:55603041C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2239G>A	19.37:g.55603041C>T	ENSP00000263433:p.Ala747Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A672T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A684T	p.A747T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	21	2254	-			747						Missense_Mutation	SNP	ENST00000263433.3	37	c.2239G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354696	0.41700	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.14766	2.48;2.48;2.48	4.32	3.23	0.37069	.	0.416431	0.21189	N	0.078678	T	0.25644	0.0624	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.994;0.999	P;P;D	0.65773	0.798;0.734;0.938	T	0.02269	-1.1185	10	0.66056	D	0.02	.	9.6031	0.39617	0.2093:0.7906:0.0:0.0	.	672;745;747	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	747;684;672	ENSP00000263433:A747T;ENSP00000365573:A684T;ENSP00000387833:A672T	ENSP00000263433:A747T	A	-	1	0	PPP1R12C	60294853	0.975000	0.34042	0.029000	0.17559	0.602000	0.36980	2.384000	0.44362	0.910000	0.36722	0.556000	0.70494	GCA		0.692	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		3	9	0	0	0	1	0	3	9				
ATP11A	23250	broad.mit.edu	37	13	113478730	113478730	+	Missense_Mutation	SNP	C	C	T	rs376242436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113478730C>T	ENST00000487903.1	+	10	951	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ATP11A_ENST00000375630.2_Missense_Mutation_p.A288V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A288V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A288V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	288					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGCGATCTGCCGTGGAAAAG	0.448																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(862-864)gCc>gTc		ATPase, class VI, type 11A		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	91.0	89.0	90.0		863,863	4.8	1.0	13		90	0,8600		0,0,4300	no	missense,missense	ATP11A	NM_032189.3,NM_015205.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	288/1192,288/1135	113478730	1,13005	2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113478730C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.863C>T	13.37:g.113478730C>T	ENSP00000420387:p.Ala288Val					ATP11A_ENST00000375630.2_Missense_Mutation_p.A288V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A288V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A288V	p.A288V			P98196	AT11A_HUMAN			10	951	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	288					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.863C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.849054|2.849054	0.51270|0.51270	2.27E-4|2.27E-4	0.0|0.0	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4|.	4.77|4.77	4.77|4.77	0.60923|0.60923	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B;B;B|.	0.21753|.	0.06;0.005;0.0|.	B;B;B|.	0.23574|.	0.047;0.033;0.02|.	T|T	0.72286|0.72286	-0.4338|-0.4338	10|5	0.51188|.	T|.	0.08|.	.|.	18.1714|18.1714	0.89746|0.89746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288;288|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	V|S	288|263	ENSP00000420387:A288V;ENSP00000364781:A288V;ENSP00000364796:A288V;ENSP00000283558:A288V|.	ENSP00000283558:A288V|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112526731|112526731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.207000|0.207000	0.24258|0.24258	5.706000|5.706000	0.68362|0.68362	2.349000|2.349000	0.79799|0.79799	0.455000|0.455000	0.32223|0.32223	GCC|CCG		0.448	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		27	28	0	0	0	1	0	27	28				
DENND6B	414918	broad.mit.edu	37	22	50752652	50752652	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50752652G>A	ENST00000413817.3	-	13	1193	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	374					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGGTGTCCAGGGTCTTCAACC	0.637																																						ENST00000413817.2																			0											c.(1120-1122)acC>acT		DENN/MADD domain containing 6B							40.0	46.0	44.0					22																	50752652		1951	4128	6079	SO:0001819	synonymous_variant	414918							g.chr22:50752652G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1122C>T	22.37:g.50752652G>A							p.T374T	NM_001001794.3	NP_001001794.3					13	1193	-								A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1122C>T	CCDS46732.1																																																																																				0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		7	6	0	0	0	1	0	7	6				
CLEC14A	161198	broad.mit.edu	37	14	38724474	38724474	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38724474G>A	ENST00000342213.2	-	1	1100	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	252	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTGCCAGCACGGAGGTACCTC	0.617																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(754-756)Cgt>Tgt		C-type lectin domain family 14, member A							111.0	121.0	118.0					14																	38724474		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724474G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.754C>T	14.37:g.38724474G>A	ENSP00000353013:p.Arg252Cys						p.R252C	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1100	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		252			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.754C>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737857	0.69304	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.75154	-0.91	3.81	3.81	0.43845	Epidermal growth factor-like (1);	0.237105	0.21837	N	0.068391	T	0.75729	0.3889	L	0.29908	0.895	0.34358	D	0.690685	D	0.89917	1.0	D	0.64687	0.928	T	0.81289	-0.1000	10	0.56958	D	0.05	-3.8386	11.4733	0.50282	0.0:0.0:1.0:0.0	.	252	Q86T13	CLC14_HUMAN	C	252;17	ENSP00000353013:R252C	ENSP00000353013:R252C	R	-	1	0	CLEC14A	37794225	0.633000	0.27181	0.671000	0.29857	0.811000	0.45836	2.150000	0.42254	2.439000	0.82584	0.591000	0.81541	CGT		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		38	62	0	0	0	1	0	38	62				
ZNF454	285676	broad.mit.edu	37	5	178391870	178391870	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178391870C>T	ENST00000320129.3	+	5	768	c.465C>T	c.(463-465)tcC>tcT	p.S155S	ZNF454_ENST00000519564.1_Silent_p.S155S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGATGAATCCGGGAGCACTA	0.493																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(463-465)tcC>tcT		zinc finger protein 454							83.0	80.0	81.0					5																	178391870		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391870C>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.465C>T	5.37:g.178391870C>T						ZNF454_ENST00000519564.1_Silent_p.S155S	p.S155S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	768	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	155					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.465C>T	CCDS4441.1																																																																																				0.493	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		21	31	0	0	0	1	0	21	31				
ZNF536	9745	broad.mit.edu	37	19	30935423	30935423	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30935423C>T	ENST00000355537.3	+	2	1101	c.954C>T	c.(952-954)caC>caT	p.H318H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	318					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCATCAGCCACGTGGAGAAGG	0.667																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(952-954)caC>caT		zinc finger protein 536							87.0	97.0	94.0					19																	30935423		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935423C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.954C>T	19.37:g.30935423C>T							p.H318H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1101	+	Esophageal squamous(110;0.0834)		318					A2RU18	Silent	SNP	ENST00000355537.3	37	c.954C>T	CCDS32984.1																																																																																				0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	63	0	0	0	1	0	26	63				
PHLPP2	23035	broad.mit.edu	37	16	71683419	71683419	+	Missense_Mutation	SNP	G	G	A	rs566728451		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71683419G>A	ENST00000568954.1	-	19	3724	c.3346C>T	c.(3346-3348)Cgg>Tgg	p.R1116W	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1116W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1151W|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1049W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1116					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCAGCGCCGCTCTGGCCTC	0.597																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3145-3147)Cgg>Tgg		PH domain and leucine rich repeat protein phosphatase 2							49.0	51.0	50.0					16																	71683419		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683419G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3346C>T	16.37:g.71683419G>A	ENSP00000457991:p.Arg1116Trp					PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1116W|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R1116W|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1151W	p.R1049W			Q6ZVD8	PHLP2_HUMAN			17	3878	-			1116					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3145C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010640	0.54361	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.50548	1.3;0.74	6.03	1.07	0.20283	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.67953	2.075	0.43919	D	0.996567	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69921	-0.5014	10	0.72032	D	0.01	-17.1215	17.3097	0.87206	0.0:0.0:0.6598:0.3402	.	1049;1116	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	W	1116;1049	ENSP00000348611:R1116W;ENSP00000377159:R1049W	ENSP00000348611:R1116W	R	-	1	2	PHLPP2	70240920	0.951000	0.32395	0.966000	0.40874	0.907000	0.53573	1.404000	0.34623	-0.081000	0.12662	-0.182000	0.12963	CGG		0.597	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		22	37	0	0	0	1	0	22	37				
SP4	6671	broad.mit.edu	37	7	21550751	21550751	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21550751C>T	ENST00000222584.3	+	6	2437	c.2219C>T	c.(2218-2220)gCc>gTc	p.A740V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	740					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACAGCTCTTGCCATTGTTACC	0.458																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2218-2220)gCc>gTc		Sp4 transcription factor							127.0	122.0	124.0					7																	21550751		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550751C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2219C>T	7.37:g.21550751C>T	ENSP00000222584:p.Ala740Val						p.A740V	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			6	2437	+			740					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2219C>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317248	0.81469	.	.	ENSG00000105866	ENST00000222584	T	0.06768	3.26	5.26	5.26	0.73747	.	0.233522	0.42964	D	0.000635	T	0.06781	0.0173	N	0.08118	0	0.51233	D	0.999916	P	0.42827	0.791	B	0.40982	0.345	T	0.43081	-0.9413	10	0.52906	T	0.07	.	18.8623	0.92278	0.0:1.0:0.0:0.0	.	740	Q02446	SP4_HUMAN	V	740	ENSP00000222584:A740V	ENSP00000222584:A740V	A	+	2	0	SP4	21517276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.469000	0.83416	0.591000	0.81541	GCC		0.458	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		31	27	0	0	0	1	0	31	27				
EHBP1	23301	broad.mit.edu	37	2	63058166	63058166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63058166G>A	ENST00000263991.5	+	7	989	c.507G>A	c.(505-507)atG>atA	p.M169I	EHBP1_ENST00000354487.3_Missense_Mutation_p.M169I|EHBP1_ENST00000405015.3_Missense_Mutation_p.M169I|EHBP1_ENST00000431489.1_Missense_Mutation_p.M169I|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405289.1_Missense_Mutation_p.M169I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	169						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ATGAAGACATGCAAAGTTTGG	0.328																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(505-507)atG>atA		EH domain binding protein 1							131.0	119.0	123.0					2																	63058166		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63058166G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.507G>A	2.37:g.63058166G>A	ENSP00000263991:p.Met169Ile					AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.M169I|EHBP1_ENST00000354487.3_Missense_Mutation_p.M169I|EHBP1_ENST00000431489.1_Missense_Mutation_p.M169I|EHBP1_ENST00000405289.1_Missense_Mutation_p.M169I	p.M169I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		7	989	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		169					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.507G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937931	0.92526	.	.	ENSG00000115504	ENST00000405015;ENST00000449820;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.80566	-1.38;0.43;0.47;-1.38;-1.39;-1.36;-1.36	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.67397	2.05	0.80722	D	1	D;D;P	0.59767	0.986;0.982;0.926	D;D;D	0.71656	0.974;0.961;0.956	D	0.87832	0.2645	10	0.49607	T	0.09	.	20.3967	0.98985	0.0:0.0:1.0:0.0	.	169;169;169	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	I	169;49;169;169;169;169;169	ENSP00000384143:M169I;ENSP00000399609:M49I;ENSP00000384829:M169I;ENSP00000403783:M169I;ENSP00000263991:M169I;ENSP00000346482:M169I;ENSP00000385524:M169I	ENSP00000263991:M169I	M	+	3	0	EHBP1	62911670	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	ATG		0.328	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		27	30	0	0	0	1	0	27	30				
HLX	3142	broad.mit.edu	37	1	221057957	221057957	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:221057957G>A	ENST00000366903.6	+	4	2879	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	HLX_ENST00000549319.1_Missense_Mutation_p.A246T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	460					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cggcggcggcGCCTCGGAGCT	0.657																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1378-1380)Gcc>Acc		H2.0-like homeobox							9.0	12.0	11.0					1																	221057957		2196	4278	6474	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057957G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1378G>A	1.37:g.221057957G>A	ENSP00000355870:p.Ala460Thr					HLX_ENST00000549319.1_Missense_Mutation_p.A246T	p.A460T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2879	+			460					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1378G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226743	0.39399	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91407	-2.6;-2.84	4.78	-8.9	0.00782	.	2.537890	0.01707	N	0.027484	T	0.74612	0.3739	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69316	-0.5177	10	0.10902	T	0.67	-2.219	1.0416	0.01560	0.2775:0.0969:0.2452:0.3804	.	460	Q14774	HLX_HUMAN	T	460;246	ENSP00000355870:A460T;ENSP00000449882:A246T	ENSP00000355870:A460T	A	+	1	0	HLX	219124580	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.425000	0.02446	-1.774000	0.01288	-1.036000	0.02392	GCC		0.657	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	5	0	0	0	1	0	5	5				
HAUS3	79441	broad.mit.edu	37	4	2242668	2242668	+	Silent	SNP	A	A	G	rs528681699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2242668A>G	ENST00000243706.4	-	2	235	c.6T>C	c.(4-6)agT>agC	p.S2S	HAUS3_ENST00000506763.1_Silent_p.S2S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Silent_p.S2S|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	2					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CATTTCCACAACTCATGGTTT	0.333																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(4-6)agT>agC		HAUS augmin-like complex, subunit 3							47.0	49.0	49.0					4																	2242668		2202	4299	6501	SO:0001819	synonymous_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242668A>G	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.6T>C	4.37:g.2242668A>G						HAUS3_ENST00000506763.1_Silent_p.S2S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Silent_p.S2S|POLN_ENST00000515357.1_Intron	p.S2S	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	235	-			2					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	c.6T>C	CCDS33941.1																																																																																				0.333	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		30	36	0	0	0	1	0	30	36				
RFX4	5992	broad.mit.edu	37	12	106995083	106995083	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106995083C>T	ENST00000392842.1	+	2	457				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.A10V	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACCCTGGTGCGGGAGGCGAC	0.647																																						ENST00000357881.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(28-30)gCg>gTg		regulatory factor X, 4 (influences HLA class II expression)							43.0	34.0	37.0					12																	106995083		2200	4292	6492	SO:0001627	intron_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:106995083C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.44-7492C>T	12.37:g.106995083C>T						RFX4_ENST00000392842.1_Intron|RP11-144F15.1_ENST00000551505.1_Intron	p.A10V	NM_001206691.1	NP_001193620.1	Q33E94	RFX4_HUMAN			1	169	+			0					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.29C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856915	0.32791	.	.	ENSG00000111783	ENST00000357881;ENST00000266774	T	0.64085	-0.08	3.97	0.0525	0.14302	.	.	.	.	.	T	0.33962	0.0881	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14587	-1.0467	9	0.27785	T	0.31	23.7767	3.0877	0.06283	0.1901:0.4921:0.0:0.3177	.	10;10	Q33E94-2;Q33E94-4	.;.	V	10	ENSP00000350552:A10V	ENSP00000266774:A10V	A	+	2	0	RFX4	105519213	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.153000	0.16323	-0.004000	0.14419	0.609000	0.83330	GCG		0.647	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		5	16	0	0	0	1	0	5	16				
TMEM116	89894	broad.mit.edu	37	12	112371728	112371728	+	Missense_Mutation	SNP	C	C	T	rs566186086	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112371728C>T	ENST00000550831.3	-	8	787	c.419G>A	c.(418-420)cGc>cAc	p.R140H	TMEM116_ENST00000355445.3_Missense_Mutation_p.R197H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R46H|TMEM116_ENST00000354825.3_Missense_Mutation_p.R140H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R232H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R140H	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	140						integral component of membrane (GO:0016021)		p.R140P(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						TGGGTAGAAGCGCACCCGTTG	0.498													C|||	5	0.000998403	0.0	0.0	5008	,	,		16786	0.0		0.0	False		,,,				2504	0.0051					ENST00000354825.3																			1	Substitution - Missense(1)	p.R140P(1)	ovary(1)	endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						c.(418-420)cGc>cAc		transmembrane protein 116							122.0	114.0	117.0					12																	112371728		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112371728C>T	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.419G>A	12.37:g.112371728C>T	ENSP00000450377:p.Arg140His					TMEM116_ENST00000550831.3_Missense_Mutation_p.R140H|TMEM116_ENST00000552374.2_Missense_Mutation_p.R232H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R46H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R140H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R197H	p.R140H			Q8NCL8	TM116_HUMAN			11	1074	-			140					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.419G>A	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	1.692	-0.503802	0.04261	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T	0.47869	0.86;0.84;0.84;0.84;0.83	4.7	2.79	0.32731	.	0.888263	0.09726	N	0.763822	T	0.34774	0.0909	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.16396	0.017;0.013;0.008;0.013	B;B;B;B	0.10450	0.004;0.005;0.005;0.005	T	0.31724	-0.9933	10	0.15066	T	0.55	0.0661	3.2808	0.06915	0.3152:0.4681:0.0:0.2167	.	46;197;232;140	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	H	197;140;140;140;46;232	ENSP00000347620:R197H;ENSP00000346883:R140H;ENSP00000450377:R140H;ENSP00000395861:R140H;ENSP00000447731:R232H	ENSP00000346883:R140H	R	-	2	0	TMEM116	110856111	0.106000	0.21978	0.171000	0.22900	0.060000	0.15804	1.556000	0.36288	0.540000	0.28808	0.467000	0.42956	CGC		0.498	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		6	50	0	0	0	1	0	6	50				
CYP4V2	285440	broad.mit.edu	37	4	187130097	187130097	+	Missense_Mutation	SNP	G	G	A	rs199476201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187130097G>A	ENST00000378802.4	+	9	1473	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	390					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GAGACCCTTCGCCTTTTTCCT	0.428																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1168-1170)cGc>cAc		cytochrome P450, family 4, subfamily V, polypeptide 2							191.0	180.0	184.0					4																	187130097		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130097G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1169G>A	4.37:g.187130097G>A	ENSP00000368079:p.Arg390His					CYP4V2_ENST00000502665.1_3'UTR	p.R390H	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	9	1473	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1169G>A	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492606	0.96339	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	D	0.97505	-4.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.96015	3.755	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99180	1.0867	9	0.87932	D	0	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	390	Q6ZWL3	CP4V2_HUMAN	H	390;368	ENSP00000368079:R390H	ENSP00000274118:R368H	R	+	2	0	CYP4V2	187367091	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	9.685000	0.98661	2.698000	0.92095	0.655000	0.94253	CGC		0.428	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		10	59	0	0	0	1	0	10	59				
IQGAP1	8826	broad.mit.edu	37	15	91025225	91025225	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91025225G>A	ENST00000268182.5	+	27	3487	c.3363G>A	c.(3361-3363)gcG>gcA	p.A1121A	IQGAP1_ENST00000560738.1_Silent_p.A549A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1121	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGAGCAGGCGCTAGCTCATG	0.502											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3361-3363)gcG>gcA		IQ motif containing GTPase activating protein 1							62.0	60.0	61.0					15																	91025225		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025225G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3363G>A	15.37:g.91025225G>A			OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	IQGAP1_ENST00000560738.1_Silent_p.A549A	p.A1121A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		27	3487	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1121			C1.|Ras-GAP.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3363G>A	CCDS10362.1																																																																																				0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		19	37	0	0	0	1	0	19	37				
TSC2	7249	broad.mit.edu	37	16	2133780	2133780	+	Missense_Mutation	SNP	C	C	T	rs397515062		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2133780C>T	ENST00000219476.3	+	33	4598	c.3968C>T	c.(3967-3969)gCg>gTg	p.A1323V	TSC2_ENST00000439673.2_Missense_Mutation_p.A1220V|TSC2_ENST00000382538.6_Missense_Mutation_p.A1208V|TSC2_ENST00000568454.1_Missense_Mutation_p.A1267V|TSC2_ENST00000350773.4_Missense_Mutation_p.A1300V|TSC2_ENST00000353929.4_Missense_Mutation_p.A1280V|TSC2_ENST00000401874.2_Missense_Mutation_p.A1256V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1323					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTTGAGGCAGCGCTAGGCATG	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3967-3969)gCg>gTg		tuberous sclerosis 2							84.0	65.0	71.0					16																	2133780		2190	4293	6483	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2133780C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3968C>T	16.37:g.2133780C>T	ENSP00000219476:p.Ala1323Val					TSC2_ENST00000353929.4_Missense_Mutation_p.A1280V|TSC2_ENST00000350773.4_Missense_Mutation_p.A1300V|TSC2_ENST00000568454.1_Missense_Mutation_p.A1267V|TSC2_ENST00000439673.2_Missense_Mutation_p.A1220V|TSC2_ENST00000382538.6_Missense_Mutation_p.A1208V|TSC2_ENST00000401874.2_Missense_Mutation_p.A1256V	p.A1323V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			33	4598	+		Hepatocellular(780;0.0202)	1323					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3968C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711040	0.30322	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88975	-2.31;-2.28;-2.45;-2.41;-2.37	4.08	4.08	0.47627	.	0.527164	0.18206	N	0.148331	T	0.69142	0.3078	N	0.04508	-0.205	0.09310	N	1	B;B;B;D;B;B;P	0.54964	0.007;0.013;0.003;0.969;0.013;0.013;0.555	B;B;B;B;B;B;B	0.33454	0.004;0.01;0.003;0.164;0.01;0.01;0.045	T	0.63143	-0.6703	10	0.26408	T	0.33	-1.8134	9.4885	0.38944	0.0:0.9004:0.0:0.0996	.	1208;1220;1300;98;1279;1256;1323	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	V	1323;1257;1280;1220;1208;1300	ENSP00000219476:A1323V;ENSP00000248099:A1280V;ENSP00000399232:A1220V;ENSP00000371978:A1208V;ENSP00000344383:A1300V	ENSP00000219476:A1323V	A	+	2	0	TSC2	2073781	0.002000	0.14202	0.013000	0.15412	0.010000	0.07245	1.110000	0.31147	1.986000	0.57962	0.462000	0.41574	GCG		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	7	0	0	0	1	0	3	7				
TRIM2	23321	broad.mit.edu	37	4	154215596	154215596	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154215596C>T	ENST00000437508.2	+	5	865	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	TRIM2_ENST00000338700.5_Silent_p.L249L|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	222					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAGTGTGCTGCTTATGGA	0.433																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(745-747)Ctg>Ttg		tripartite motif containing 2							136.0	118.0	124.0					4																	154215596		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154215596C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.664C>T	4.37:g.154215596C>T						TRIM2_ENST00000437508.2_Silent_p.L222L|TRIM2_ENST00000494872.1_3'UTR	p.L249L	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	5	810	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	222					D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.745C>T	CCDS47147.1																																																																																				0.433	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			16	35	0	0	0	1	0	16	35				
ARRB1	408	broad.mit.edu	37	11	74987953	74987953	+	Missense_Mutation	SNP	G	G	A	rs368449308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74987953G>A	ENST00000420843.2	-	10	803	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	ARRB1_ENST00000393505.4_Missense_Mutation_p.R236C|ARRB1_ENST00000360025.3_Missense_Mutation_p.R236C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	236					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCATACTGGCGCACTAGGGAG	0.567																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(706-708)Cgc>Tgc		arrestin, beta 1		G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	113.0	102.0	106.0		706,706	4.5	1.0	11		106	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	180,180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	236/419,236/411	74987953	1,12985	2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74987953G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.706C>T	11.37:g.74987953G>A	ENSP00000409581:p.Arg236Cys					ARRB1_ENST00000360025.3_Missense_Mutation_p.R236C|ARRB1_ENST00000393505.4_Missense_Mutation_p.R236C	p.R236C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			10	803	-			236					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.706C>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047426|4.047426	0.75846|0.75846	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.|T;T;T;T	.|0.17054	.|2.3;2.3;2.3;2.3	5.41|5.41	4.47|4.47	0.54385|0.54385	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.43523|0.43523	0.1251|0.1251	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.921;0.982	T|T	0.44390|0.44390	-0.9331|-0.9331	5|10	.|0.66056	.|D	.|0.02	-14.3594|-14.3594	13.3735|13.3735	0.60726|0.60726	0.0:0.0:0.8426:0.1574|0.0:0.0:0.8426:0.1574	.|.	.|236;236	.|P49407-2;P49407	.|.;ARRB1_HUMAN	V|C	60|236;236;236;231	.|ENSP00000409581:R236C;ENSP00000377141:R236C;ENSP00000353124:R236C;ENSP00000433171:R231C	.|ENSP00000353124:R236C	A|R	-|-	2|1	0|0	ARRB1|ARRB1	74665601|74665601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	9.456000|9.456000	0.97628|0.97628	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.567	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		19	25	0	0	0	1	0	19	25				
HIGD1A	25994	broad.mit.edu	37	3	42827562	42827562	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42827562G>A	ENST00000321331.7	-	3	307	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000418900.2_Missense_Mutation_p.R64C|HIGD1A_ENST00000452906.2_Missense_Mutation_p.R78C|HIGD1A_ENST00000430190.1_Missense_Mutation_p.R64C	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	64	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCTGCCACACGCATGTGGATC	0.378																																						ENST00000321331.7																			0				lung(1)	1						c.(190-192)Cgt>Tgt		HIG1 hypoxia inducible domain family, member 1A							80.0	72.0	75.0					3																	42827562		1839	4093	5932	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42827562G>A	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"""hypoxia inducible gene 1"""		"""HIG1 domain family, member 1A"""			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.190C>T	3.37:g.42827562G>A	ENSP00000319393:p.Arg64Cys					HIGD1A_ENST00000430190.1_Missense_Mutation_p.R64C|HIGD1A_ENST00000418900.2_Missense_Mutation_p.R64C|HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000452906.2_Missense_Mutation_p.R78C	p.R64C	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	307	-			64			HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.190C>T	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667500	0.88348	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.63744	-0.06;-0.06;-0.06	4.73	4.73	0.59995	Hypoxia induced protein, domain (2);	0.091701	0.85682	D	0.000000	T	0.63343	0.2503	.	.	.	0.80722	D	1	P;P	0.49559	0.925;0.892	B;P	0.44990	0.427;0.466	T	0.69702	-0.5074	9	0.72032	D	0.01	0.0933	15.5624	0.76258	0.0:0.0:1.0:0.0	.	78;64	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	C	64;64;64;78	ENSP00000319393:R64C;ENSP00000402160:R64C;ENSP00000398064:R78C	ENSP00000319393:R64C	R	-	1	0	HIGD1A	42802566	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.039000	0.93777	2.611000	0.88343	0.591000	0.81541	CGT		0.378	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		25	37	0	0	0	1	0	25	37				
EPHA10	284656	broad.mit.edu	37	1	38227057	38227057	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38227057G>A	ENST00000373048.4	-	3	850				EPHA10_ENST00000427468.2_Intron|EPHA10_ENST00000319637.6_Silent_p.G290G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10						ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACCCCACGGCCCCCAGCCA	0.662																																						ENST00000319637.6																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(868-870)ggC>ggT		EPH receptor A10							78.0	85.0	83.0					1																	38227057		2136	4105	6241	SO:0001627	intron_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227057G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.850+19C>T	1.37:g.38227057G>A						EPHA10_ENST00000373048.4_Intron|EPHA10_ENST00000427468.2_Intron	p.G290G	NM_173641.2	NP_775912.2	Q5JZY3	EPHAA_HUMAN			3	936	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.870C>T	CCDS41305.1																																																																																				0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		27	30	0	0	0	1	0	27	30				
ARHGAP10	79658	broad.mit.edu	37	4	148876466	148876466	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148876466G>T	ENST00000336498.3	+	16	1630		c.e16-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTTCACACAGGAGTCTTCCA	0.328																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.e16-1		Rho GTPase activating protein 10							155.0	170.0	165.0					4																	148876466		2203	4299	6502	SO:0001630	splice_region_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148876466G>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1392-1G>T	4.37:g.148876466G>T						ARHGAP10_ENST00000414545.2_Splice_Site		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	16	1630	+	all_hematologic(180;0.151)	Renal(17;0.0166)						Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37		CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275198	0.59649	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2271	0.93821	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149095916	1.000000	0.71417	0.999000	0.59377	0.666000	0.39218	8.191000	0.89716	2.613000	0.88420	0.655000	0.94253	.		0.328	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron	61	137	1	0	6.12789e-21	1	6.79748e-21	61	137				
TMEM246	84302	broad.mit.edu	37	9	104238426	104238426	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104238426G>A	ENST00000374851.1	-	4	2096	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	317						integral component of membrane (GO:0016021)											CTCAGCCGCCGCAGTTCCAGG	0.617																																						ENST00000374851.1																			0											c.(949-951)Cgg>Tgg		transmembrane protein 246							91.0	94.0	93.0					9																	104238426		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238426G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.949C>T	9.37:g.104238426G>A	ENSP00000363984:p.Arg317Trp					TMEM246_ENST00000374848.3_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R317W|RP11-490D19.6_ENST00000450109.1_RNA	p.R317W			Q9BRR3	CI125_HUMAN			4	2096	-			317					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.949C>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075163	0.76415	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78842	0.4347	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80498	-0.1356	9	0.66056	D	0.02	-24.2223	13.7491	0.62897	0.0:0.0:0.8465:0.1535	.	317	Q9BRR3	CI125_HUMAN	W	317	.	ENSP00000363980:R317W	R	-	1	2	C9orf125	103278247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.469000	0.60169	2.700000	0.92200	0.563000	0.77884	CGG		0.617	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		14	37	0	0	0	1	0	14	37				
DDX60	55601	broad.mit.edu	37	4	169209425	169209425	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169209425A>T	ENST00000393743.3	-	9	1374	c.1083T>A	c.(1081-1083)acT>acA	p.T361T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	361					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAATTCAAAAGTATGTATAT	0.249																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1081-1083)acT>acA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							37.0	42.0	40.0					4																	169209425		2157	4258	6415	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169209425A>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1083T>A	4.37:g.169209425A>T							p.T361T	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	9	1374	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	361					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.1083T>A	CCDS34097.1																																																																																				0.249	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		14	70	0	0	0	1	0	14	70				
PWP2	5822	broad.mit.edu	37	21	45547935	45547935	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45547935C>T	ENST00000291576.7	+	18	2390	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	755					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGAGGCACTGCGCCAGCAGGA	0.667																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2263-2265)Cgc>Tgc		PWP2 periodic tryptophan protein homolog (yeast)							33.0	31.0	32.0					21																	45547935		2202	4299	6501	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45547935C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2263C>T	21.37:g.45547935C>T	ENSP00000291576:p.Arg755Cys					PWP2_ENST00000494310.1_3'UTR	p.R755C	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	18	2390	+			755					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2263C>T	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694763	0.68386	.	.	ENSG00000241945	ENST00000291576	T	0.59364	0.27	4.47	3.57	0.40892	.	0.294543	0.34133	N	0.004240	T	0.60130	0.2245	M	0.78637	2.42	0.41254	D	0.986735	D	0.71674	0.998	P	0.46825	0.528	T	0.64816	-0.6318	10	0.59425	D	0.04	-5.7151	8.4844	0.33063	0.1504:0.7672:0.0:0.0824	.	755	Q15269	PWP2_HUMAN	C	755	ENSP00000291576:R755C	ENSP00000291576:R755C	R	+	1	0	PWP2	44372363	0.985000	0.35326	0.869000	0.34112	0.939000	0.58152	0.812000	0.27211	1.172000	0.42781	0.655000	0.94253	CGC		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		5	18	0	0	0	1	0	5	18				
DHRSX	207063	broad.mit.edu	37	X	2161252	2161252	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2161252C>T	ENST00000334651.5	-	6	668	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	206							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCGTAGGCTGCGTGGGGTGAG	0.627																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(616-618)Gca>Aca		dehydrogenase/reductase (SDR family) X-linked							123.0	105.0	111.0					X																	2161252		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161252C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.616G>A	X.37:g.2161252C>T	ENSP00000334113:p.Ala206Thr						p.A206T	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	668	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	206					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.616G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	8.663	0.900988	0.17760	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.95137	-3.62;-3.62	1.45	1.45	0.22620	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.305888	0.29383	U	0.012304	D	0.90906	0.7142	N	0.25332	0.735	0.09310	N	1	D	0.59357	0.985	P	0.52823	0.71	D	0.83844	0.0259	10	0.13853	T	0.58	.	10.968	0.47424	0.0:1.0:0.0:0.0	.	206	Q8N5I4	DHRSX_HUMAN	T	206;183	ENSP00000334113:A206T;ENSP00000391778:A183T	ENSP00000334113:A206T	A	-	1	0	DHRSX	2171252	0.998000	0.40836	0.737000	0.30932	0.336000	0.28762	3.284000	0.51708	0.430000	0.26230	0.054000	0.15206	GCA		0.627	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		10	22	0	0	0	1	0	10	22				
ZBTB7A	51341	broad.mit.edu	37	19	4048173	4048173	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4048173G>A	ENST00000322357.4	-	3	1610	c.1332C>T	c.(1330-1332)ggC>ggT	p.G444G	ZBTB7A_ENST00000601588.1_Silent_p.G444G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGGCGGCGCCGCACTGCT	0.662																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1330-1332)ggC>ggT		zinc finger and BTB domain containing 7A							68.0	68.0	68.0					19																	4048173		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4048173G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1332C>T	19.37:g.4048173G>A						ZBTB7A_ENST00000601588.1_Silent_p.G444G	p.G444G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1610	-		Hepatocellular(1079;0.137)	444					D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.1332C>T	CCDS12119.1																																																																																				0.662	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		17	15	0	0	0	1	0	17	15				
LPIN1	23175	broad.mit.edu	37	2	11919742	11919742	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11919742C>T	ENST00000256720.2	+	6	913	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	LPIN1_ENST00000396098.1_Silent_p.L316L|LPIN1_ENST00000396097.1_Silent_p.L4L|LPIN1_ENST00000396099.1_Silent_p.L316L|LPIN1_ENST00000449576.2_Silent_p.L359L|LPIN1_ENST00000425416.2_Silent_p.L280L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	274					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATGCTTTGGCTGTGGGGAGA	0.483											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(820-822)Ctg>Ttg		lipin 1							65.0	64.0	64.0					2																	11919742		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11919742C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.820C>T	2.37:g.11919742C>T			OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	LPIN1_ENST00000396098.1_Silent_p.L316L|LPIN1_ENST00000449576.2_Silent_p.L359L|LPIN1_ENST00000396097.1_Silent_p.L4L|LPIN1_ENST00000425416.2_Silent_p.L280L|LPIN1_ENST00000396099.1_Silent_p.L316L	p.L274L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	6	913	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		274					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.820C>T	CCDS1682.1																																																																																				0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		13	36	0	0	0	1	0	13	36				
TROAP	10024	broad.mit.edu	37	12	49721017	49721017	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49721017C>T	ENST00000257909.3	+	8	871	c.795C>T	c.(793-795)cgC>cgT	p.R265R	TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000551245.1_Silent_p.R265R|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	265					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AAGGAGAACGCGAGGTTGTCA	0.478																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(793-795)cgC>cgT		trophinin associated protein							130.0	117.0	121.0					12																	49721017		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49721017C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.795C>T	12.37:g.49721017C>T						TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Silent_p.R265R	p.R265R			Q12815	TROAP_HUMAN			8	906	+			265					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.795C>T	CCDS8784.1																																																																																				0.478	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		28	43	0	0	0	1	0	28	43				
DHCR7	1717	broad.mit.edu	37	11	71146658	71146658	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71146658C>T	ENST00000355527.3	-	9	1467	c.1191G>A	c.(1189-1191)tcG>tcA	p.S397S	DHCR7_ENST00000407721.2_Silent_p.S397S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	397			S -> L (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CCCAGAAGCCCGACACCAGCA	0.672									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(1189-1191)tcG>tcA		7-dehydrocholesterol reductase	NADH(DB00157)						21.0	22.0	22.0					11																	71146658		2198	4288	6486	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146658C>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1191G>A	11.37:g.71146658C>T						DHCR7_ENST00000407721.2_Silent_p.S397S	p.S397S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1467	-			397		S -> L (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1191G>A	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345742	0.24426	.	.	ENSG00000172893	ENST00000525137	D	0.99409	-5.85	5.12	-7.5	0.01351	.	.	.	.	.	D	0.98305	0.9438	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93273	0.6653	6	0.31617	T	0.26	-20.9536	9.3694	0.38246	0.0:0.3076:0.436:0.2564	.	.	.	.	Q	231	ENSP00000435956:R231Q	ENSP00000435956:R231Q	R	-	2	0	DHCR7	70824306	0.000000	0.05858	0.349000	0.25694	0.890000	0.51754	-5.671000	0.00105	-2.287000	0.00669	-2.319000	0.00253	CGG		0.672	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		8	9	0	0	0	1	0	8	9				
RAD51	5888	broad.mit.edu	37	15	41020960	41020960	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41020960G>A	ENST00000267868.3	+	7	850	c.582G>A	c.(580-582)gcG>gcA	p.A194A	RAD51_ENST00000532743.1_Silent_p.A195A|RAD51_ENST00000423169.2_Silent_p.A194A|RAD51_ENST00000382643.3_Silent_p.A195A|RAD51_ENST00000557850.1_Silent_p.A97A	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	194	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ATGCTCGAGCGTTCAACACAG	0.448								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(580-582)gcG>gcA	Homologous recombination	RAD51 recombinase							258.0	235.0	242.0					15																	41020960		2203	4300	6503	SO:0001819	synonymous_variant	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41020960G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.582G>A	15.37:g.41020960G>A						RAD51_ENST00000382643.3_Silent_p.A195A|RAD51_ENST00000557850.1_Silent_p.A97A|RAD51_ENST00000532743.1_Silent_p.A195A|RAD51_ENST00000423169.2_Silent_p.A194A	p.A194A	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	7	850	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	194			Interaction with PALB2.		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Silent	SNP	ENST00000267868.3	37	c.582G>A	CCDS10062.1																																																																																				0.448	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		57	92	0	0	0	1	0	57	92				
ACIN1	22985	broad.mit.edu	37	14	23530582	23530582	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23530582G>A	ENST00000262710.1	-	17	3850	c.3523C>T	c.(3523-3525)Cgt>Tgt	p.R1175C	ACIN1_ENST00000397341.3_Missense_Mutation_p.R417C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117C|ACIN1_ENST00000338631.6_Missense_Mutation_p.R448C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R417C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCGGGAACGGGGCCCTTCT	0.577																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3523-3525)Cgt>Tgt		apoptotic chromatin condensation inducer 1							120.0	125.0	123.0					14																	23530582		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530582G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3523C>T	14.37:g.23530582G>A	ENSP00000262710:p.Arg1175Cys					ACIN1_ENST00000338631.6_Missense_Mutation_p.R448C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R417C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135C|ACIN1_ENST00000357481.2_Missense_Mutation_p.R417C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162C	p.R1175C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3850	-	all_cancers(95;1.36e-05)		1175			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3523C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559571	0.65538	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.69	4.69	0.59074	.	0.000000	0.39834	N	0.001246	T	0.37128	0.0992	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76575	0.984;0.965;0.988;0.965;0.965	T	0.06826	-1.0805	10	0.59425	D	0.04	-6.1398	14.9883	0.71365	0.0:0.0:1.0:0.0	.	1162;1175;1135;448;417	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	416;448;417;1175;1135;417;1162	ENSP00000451138:R416C;ENSP00000345541:R448C;ENSP00000350073:R417C;ENSP00000262710:R1175C;ENSP00000405677:R1135C;ENSP00000380502:R417C;ENSP00000451328:R1162C	ENSP00000262710:R1175C	R	-	1	0	ACIN1	22600422	0.989000	0.36119	0.984000	0.44739	0.862000	0.49288	1.654000	0.37334	2.579000	0.87056	0.563000	0.77884	CGT		0.577	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		29	50	0	0	0	1	0	29	50				
ZNF839	55778	broad.mit.edu	37	14	102792380	102792380	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102792380C>T	ENST00000558850.1	+	0	349				ZNF839_ENST00000559185.1_5'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.P116L|ZNF839_ENST00000262236.5_5'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839								metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGAAAGGCCAATGCTCCTA	0.517																																						ENST00000442396.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(346-348)cCa>cTa		zinc finger protein 839							34.0	39.0	38.0					14																	102792380		1930	4152	6082	SO:0001623	5_prime_UTR_variant	55778					intracellular	zinc ion binding	g.chr14:102792380C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.-2C>T	14.37:g.102792380C>T						ZNF839_ENST00000559185.1_5'UTR|ZNF839_ENST00000558850.1_5'UTR|ZNF839_ENST00000262236.5_5'UTR	p.P116L			A8K0R7	ZN839_HUMAN			2	362	+			0					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.347C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830710	0.50845	.	.	ENSG00000022976	ENST00000442396	T	0.20069	2.1	5.05	4.17	0.49024	.	.	.	.	.	T	0.14570	0.0352	N	0.17082	0.46	0.28899	N	0.893393	B	0.32382	0.368	B	0.32677	0.15	T	0.10776	-1.0615	9	0.44086	T	0.13	.	12.0688	0.53605	0.0:0.9201:0.0:0.0799	.	116	A8K0R7-5	.	L	116	ENSP00000399863:P116L	ENSP00000399863:P116L	P	+	2	0	ZNF839	101862133	0.006000	0.16342	0.003000	0.11579	0.055000	0.15305	0.393000	0.20817	1.158000	0.42547	-0.273000	0.10243	CCA		0.517	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		6	12	0	0	0	1	0	6	12				
CRK	1398	broad.mit.edu	37	17	1340400	1340400	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1340400C>T	ENST00000300574.2	-	2	431	c.291G>A	c.(289-291)ttG>ttA	p.L97L	CRK_ENST00000398970.5_Silent_p.L97L|CRK_ENST00000574295.1_Silent_p.L97L|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	97	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		GTAAAGCAGGCAATGAATCAA	0.438																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(289-291)ttG>ttA		v-crk avian sarcoma virus CT10 oncogene homolog							81.0	75.0	77.0					17																	1340400		2203	4300	6503	SO:0001819	synonymous_variant	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340400C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.291G>A	17.37:g.1340400C>T						CRK_ENST00000574295.1_Silent_p.L97L|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.L97L	p.L97L	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	431	-			97			SH2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	37	c.291G>A	CCDS11002.1																																																																																				0.438	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		14	44	0	0	0	1	0	14	44				
XIRP1	165904	broad.mit.edu	37	3	39227003	39227003	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39227003G>A	ENST00000340369.3	-	2	4162	c.3934C>T	c.(3934-3936)Cca>Tca	p.P1312S	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_5'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1312	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCAGTTTTGGGGTCTTTGTC	0.622																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3934-3936)Cca>Tca		xin actin-binding repeat containing 1							44.0	52.0	49.0					3																	39227003		2198	4298	6496	SO:0001583	missense	165904						actin binding	g.chr3:39227003G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3934C>T	3.37:g.39227003G>A	ENSP00000343140:p.Pro1312Ser					XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	p.P1312S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4162	-			1312			Pro-rich.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3934C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.892693	0.00059	.	.	ENSG00000168334	ENST00000340369	T	0.03607	3.87	4.19	-1.97	0.07503	.	0.689325	0.10929	N	0.618541	T	0.01627	0.0052	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.46857	-0.9161	10	0.25751	T	0.34	.	2.0297	0.03527	0.2771:0.134:0.4525:0.1365	.	1312	Q702N8	XIRP1_HUMAN	S	1312	ENSP00000343140:P1312S	ENSP00000343140:P1312S	P	-	1	0	XIRP1	39202007	0.005000	0.15991	0.000000	0.03702	0.050000	0.14768	0.604000	0.24164	-0.441000	0.07201	-2.924000	0.00089	CCA		0.622	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		23	33	0	0	0	1	0	23	33				
RYR3	6263	broad.mit.edu	37	15	34023829	34023829	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34023829C>T	ENST00000389232.4	+	48	7428	c.7358C>T	c.(7357-7359)tCc>tTc	p.S2453F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2453F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2453	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACAGGCTATCCAAGGGACGT	0.468																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(7357-7359)tCc>tTc		ryanodine receptor 3							90.0	85.0	87.0					15																	34023829		1984	4184	6168	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34023829C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7358C>T	15.37:g.34023829C>T	ENSP00000373884:p.Ser2453Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.S2453F	p.S2453F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	48	7428	+		all_lung(180;7.18e-09)	2453			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7358C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094150	0.76870	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;T	0.93247	-3.19;-0.12	5.38	4.47	0.54385	.	0.069408	0.64402	D	0.000012	D	0.94335	0.8179	M	0.81802	2.56	0.58432	D	0.999996	P;P	0.48998	0.85;0.918	B;P	0.47827	0.325;0.558	D	0.94738	0.7916	10	0.87932	D	0	.	13.8693	0.63608	0.0:0.9278:0.0:0.0722	.	2453;2453	Q15413-2;Q15413	.;RYR3_HUMAN	F	2453	ENSP00000373884:S2453F;ENSP00000399610:S2453F	ENSP00000354735:S2453F	S	+	2	0	RYR3	31811121	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.837000	0.55820	1.502000	0.48669	0.655000	0.94253	TCC		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	23	0	0	0	1	0	3	23				
KCTD19	146212	broad.mit.edu	37	16	67325217	67325217	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67325217G>A	ENST00000304372.5	-	14	2615	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	854					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CATACCCACAGCCGATTGGCC	0.557																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2560-2562)Ctg>Ttg		potassium channel tetramerization domain containing 19							65.0	66.0	66.0					16																	67325217		2015	4181	6196	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325217G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2560C>T	16.37:g.67325217G>A							p.L854L	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	14	2615	-		Ovarian(137;0.192)	854					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.2560C>T	CCDS42179.1																																																																																				0.557	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		10	19	0	0	0	1	0	10	19				
NUP153	9972	broad.mit.edu	37	6	17662249	17662249	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17662249C>A	ENST00000262077.2	-	10	1267	c.1268G>T	c.(1267-1269)aGt>aTt	p.S423I	NUP153_ENST00000537253.1_Splice_Site_p.S423I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	423					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATGACAGTACCTTTCTCGTTG	0.303																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.e10+1		nucleoporin 153kDa							229.0	233.0	232.0					6																	17662249		2203	4300	6503	SO:0001630	splice_region_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17662249C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1268+1G>T	6.37:g.17662249C>A						NUP153_ENST00000537253.1_Splice_Site_p.S423_splice	p.S423_splice	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		10	1267	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	423					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Splice_Site	SNP	ENST00000262077.2	37	c.1268_splice	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373949	0.42105	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.10668	3.02;2.85	5.49	5.49	0.81192	Nucleoporin, Nup153-like (1);	0.000000	0.64402	D	0.000014	T	0.23846	0.0577	M	0.72894	2.215	0.58432	D	0.999999	B;B;D	0.76494	0.16;0.099;0.999	B;B;D	0.87578	0.075;0.038;0.998	T	0.00202	-1.1925	9	.	.	.	-17.2186	15.2298	0.73378	0.0:1.0:0.0:0.0	.	423;445;423	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	I	423;445;423	ENSP00000262077:S423I;ENSP00000444029:S423I	.	S	-	2	0	NUP153	17770228	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.727000	0.54984	2.740000	0.93945	0.563000	0.77884	AGT		0.303	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		Missense_Mutation	31	47	1	0	2.08457e-15	1	2.28171e-15	31	47				
MCF2L2	23101	broad.mit.edu	37	3	182946126	182946126	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182946126C>T	ENST00000328913.3	-	18	2371	c.2074G>A	c.(2074-2076)Gct>Act	p.A692T	MCF2L2_ENST00000473233.1_Missense_Mutation_p.A692T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A692T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	692	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGTTCTCAGCACACTTTTCC	0.323																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2074-2076)Gct>Act		MCF.2 cell line derived transforming sequence-like 2							83.0	81.0	82.0					3																	182946126		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182946126C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2074G>A	3.37:g.182946126C>T	ENSP00000328118:p.Ala692Thr					MCF2L2_ENST00000447025.2_Missense_Mutation_p.A692T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A692T	p.A692T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		18	2371	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		692			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2074G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	4.190	0.033996	0.08101	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.62639	0.01;0.01;0.01	5.01	-0.305	0.12784	Dbl homology (DH) domain (5);	0.796130	0.11393	N	0.568605	T	0.33265	0.0857	N	0.04686	-0.185	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.17979	0.02;0.004	T	0.25117	-1.0141	10	0.07990	T	0.79	.	8.0305	0.30461	0.0:0.3885:0.0:0.6115	.	692;692	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	T	692	ENSP00000328118:A692T;ENSP00000420070:A692T;ENSP00000388190:A692T	ENSP00000328118:A692T	A	-	1	0	MCF2L2	184428820	0.010000	0.17322	0.066000	0.19879	0.978000	0.69477	0.060000	0.14342	0.034000	0.15491	0.563000	0.77884	GCT		0.323	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	65	0	0	0	1	0	4	65				
HAPLN1	1404	broad.mit.edu	37	5	82940427	82940427	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:82940427G>A	ENST00000274341.4	-	4	1380	c.530C>T	c.(529-531)gCg>gTg	p.A177V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	177	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGCCTGCTGCGCCTCGTGAAA	0.582																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(529-531)gCg>gTg		hyaluronan and proteoglycan link protein 1							38.0	36.0	37.0					5																	82940427		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940427G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.530C>T	5.37:g.82940427G>A	ENSP00000274341:p.Ala177Val						p.A177V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1380	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	177			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.530C>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268298	0.95429	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.8	5.8	0.92144	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88221	0.2897	10	0.87932	D	0	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	177	P10915	HPLN1_HUMAN	V	177;177;177;176	ENSP00000274341:A177V;ENSP00000422592:A177V;ENSP00000421341:A177V;ENSP00000426610:A176V	ENSP00000274341:A177V	A	-	2	0	HAPLN1	82976183	1.000000	0.71417	0.968000	0.41197	0.636000	0.38137	9.476000	0.97823	2.733000	0.93635	0.650000	0.86243	GCG		0.582	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		17	6	0	0	0	1	0	17	6				
TBC1D8	11138	broad.mit.edu	37	2	101644513	101644513	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101644513G>A	ENST00000376840.4	-	14	2402	c.2403C>T	c.(2401-2403)aaC>aaT	p.N801N	TBC1D8_ENST00000409318.1_Silent_p.N816N			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	801					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TACCCACCACGTTCTGCTTTG	0.537																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(2446-2448)aaC>aaT		TBC1 domain family, member 8 (with GRAM domain)							91.0	88.0	89.0					2																	101644513		2040	4177	6217	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101644513G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2403C>T	2.37:g.101644513G>A						TBC1D8_ENST00000376840.4_Silent_p.N801N	p.N816N	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			14	2578	-			801					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.2448C>T	CCDS46375.1																																																																																				0.537	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		10	12	0	0	0	1	0	10	12				
LEPROT	54741	broad.mit.edu	37	1	65895626	65895626	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65895626C>T	ENST00000371065.4	+	3	312	c.174C>T	c.(172-174)gaC>gaT	p.D58D	LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	58					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCACCTATGACTCAGATGCAA	0.488																																						ENST00000371065.4																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(172-174)gaC>gaT		leptin receptor overlapping transcript							299.0	282.0	288.0					1																	65895626		2203	4300	6503	SO:0001819	synonymous_variant	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65895626C>T	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.174C>T	1.37:g.65895626C>T						LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000344610.8_Intron|LEPROT_ENST00000484243.1_3'UTR	p.D58D	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	3	312	+			58					Q6FHL5	Silent	SNP	ENST00000371065.4	37	c.174C>T	CCDS630.1																																																																																				0.488	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		68	95	0	0	0	1	0	68	95				
SCN9A	6335	broad.mit.edu	37	2	167133597	167133597	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167133597G>T	ENST00000409435.1	-	15	2769	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L925M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L925M|SCN9A_ENST00000409672.1_Missense_Mutation_p.L913M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	924					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCACACAGCACGCGGAAC	0.488																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2773-2775)Ctg>Atg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						200.0	191.0	194.0					2																	167133597		2203	4297	6500	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167133597G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2770C>A	2.37:g.167133597G>T	ENSP00000386330:p.Leu924Met					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L913M|SCN9A_ENST00000375387.4_Missense_Mutation_p.L925M|SCN9A_ENST00000409435.1_Missense_Mutation_p.L924M	p.L925M			Q15858	SCN9A_HUMAN			16	3113	-			924					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2773C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995038	0.74703	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.65	4.78	0.61160	.	0.000000	0.51477	D	0.000096	D	0.98397	0.9467	M	0.64404	1.975	0.47819	D	0.99952	D	0.89917	1.0	D	0.97110	1.0	D	0.99104	1.0844	10	0.87932	D	0	.	10.9606	0.47383	0.1436:0.0:0.8564:0.0	.	913	E7EUN6	.	M	913;925;925;924	ENSP00000386306:L913M;ENSP00000364536:L925M;ENSP00000304748:L925M;ENSP00000386330:L924M	ENSP00000304748:L925M	L	-	1	2	SCN9A	166841843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.862000	0.48388	1.516000	0.48900	0.650000	0.86243	CTG		0.488	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	118	1	0	0.000602214	1	0.000612743	5	118				
C17orf74	201243	broad.mit.edu	37	17	7329619	7329619	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7329619G>T	ENST00000333870.3	+	3	383	c.309G>T	c.(307-309)caG>caT	p.Q103H	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	103						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACCCACGCAGTACTCCTCTT	0.607																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(307-309)caG>caT		chromosome 17 open reading frame 74							108.0	110.0	110.0					17																	7329619		2117	4232	6349	SO:0001583	missense	201243					integral to membrane		g.chr17:7329619G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.309G>T	17.37:g.7329619G>T	ENSP00000328061:p.Gln103His					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	p.Q103H	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	383	+		Prostate(122;0.157)	103						Missense_Mutation	SNP	ENST00000333870.3	37	c.309G>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	2.226	-0.377336	0.05000	.	.	ENSG00000184560	ENST00000333870	T	0.32023	1.47	3.89	-1.03	0.10102	.	2.600110	0.01743	N	0.029512	T	0.24044	0.0582	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	10	0.15952	T	0.53	-12.5402	8.0593	0.30623	0.1594:0.2911:0.5494:0.0	.	103	Q0P670	CQ074_HUMAN	H	103	ENSP00000328061:Q103H	ENSP00000328061:Q103H	Q	+	3	2	C17orf74	7270343	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.098000	0.15189	0.054000	0.16065	-0.339000	0.08088	CAG		0.607	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		19	69	1	0	5.35356e-11	1	5.74024e-11	19	69				
KIAA0430	9665	broad.mit.edu	37	16	15690732	15690732	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15690732G>T	ENST00000396368.3	-	27	5253	c.5047C>A	c.(5047-5049)Ctg>Atg	p.L1683M	KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1518M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1371M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1683M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1683					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCAGAGGTCAGAGTTTTGCTC	0.488																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(5047-5049)Ctg>Atg		KIAA0430							44.0	47.0	46.0					16																	15690732		2056	4217	6273	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690732G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5047C>A	16.37:g.15690732G>T	ENSP00000379654:p.Leu1683Met					KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1683M|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1680M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1518M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1371M	p.L1683M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			27	5253	-			1682					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.5047C>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388890	0.42308	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	3.43	0.39272	.	0.845188	0.10449	N	0.673283	T	0.32102	0.0818	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.41265	0.744;0.739;0.739;0.628	P;P;P;B	0.46172	0.503;0.506;0.506;0.306	T	0.15752	-1.0426	9	0.46703	T	0.11	.	8.9492	0.35779	0.0789:0.2918:0.6294:0.0	.	1682;1680;1679;1682	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	M	1683;1518;1623;1371;1680;1683;1549	.	ENSP00000315718:L1623M	L	-	1	2	KIAA0430	15598233	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.593000	0.23999	0.619000	0.30197	0.655000	0.94253	CTG		0.488	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		6	33	1	0	0.00116845	1	0.0011864	6	33				
ZNF688	146542	broad.mit.edu	37	16	30581460	30581460	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30581460C>T	ENST00000223459.6	-	3	1712	c.608G>A	c.(607-609)cGc>cAc	p.R203H	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.R189H|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGAGTGCATGCGCCTGTGGCT	0.677																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(607-609)cGc>cAc		zinc finger protein 688							16.0	20.0	19.0					16																	30581460		2189	4285	6474	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581460C>T	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.608G>A	16.37:g.30581460C>T	ENSP00000223459:p.Arg203His					ZNF688_ENST00000395219.1_Missense_Mutation_p.R189H	p.R203H	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1712	-			203					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.608G>A	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046458	0.75846	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.25749	1.78;1.78	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50633	0.1627	M	0.78049	2.395	0.31717	N	0.63882	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.57820	-0.7745	9	0.54805	T	0.06	.	12.694	0.56992	0.0:1.0:0.0:0.0	.	203;189	P0C7X2;A8MV39	ZN688_HUMAN;.	H	189;203	ENSP00000378645:R189H;ENSP00000223459:R203H	ENSP00000223459:R203H	R	-	2	0	ZNF688	30488961	0.754000	0.28360	1.000000	0.80357	0.850000	0.48378	1.159000	0.31749	2.439000	0.82584	0.467000	0.42956	CGC		0.677	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		16	14	0	0	0	1	0	16	14				
TNFRSF10C	8794	broad.mit.edu	37	8	22974492	22974492	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22974492G>A	ENST00000356864.3	+	5	1260	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.C141Y	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	243					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACCTCTCATGCACCATCGTA	0.493																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(727-729)tGc>tAc		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							146.0	155.0	152.0					8																	22974492		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22974492G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.728G>A	8.37:g.22974492G>A	ENSP00000349324:p.Cys243Tyr					TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.C141Y	p.C243Y	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	5	1260	+		Prostate(55;0.0421)|Breast(100;0.067)	243					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.728G>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	G	0.171	-1.071034	0.01918	.	.	ENSG00000173535	ENST00000356864;ENST00000540813;ENST00000544885	T;T	0.63096	-0.02;1.17	0.235	0.235	0.15431	.	7739.210000	0.00166	U	0.000002	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	P	0.51240	0.943	P	0.58013	0.831	T	0.53830	-0.8383	9	0.87932	D	0	.	.	.	.	.	243	O14798	TR10C_HUMAN	Y	243;141;243	ENSP00000349324:C243Y;ENSP00000437612:C141Y	ENSP00000349324:C243Y	C	+	2	0	TNFRSF10C	23030437	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.156000	0.16382	0.308000	0.22923	0.313000	0.20887	TGC		0.493	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			38	83	0	0	0	1	0	38	83				
PSMC6	5706	broad.mit.edu	37	14	53185071	53185071	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53185071G>A	ENST00000606149.1	+	9	731		c.e9+1		PSMC6_ENST00000445930.2_Splice_Site	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATGCTATTGGTAAGAATAAC	0.313																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.e9+1		proteasome (prosome, macropain) 26S subunit, ATPase, 6							74.0	79.0	77.0					14																	53185071		2203	4298	6501	SO:0001630	splice_region_variant	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53185071G>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.715+1G>A	14.37:g.53185071G>A						PSMC6_ENST00000606149.1_Splice_Site				P62333	PRS10_HUMAN			9	763	+	Breast(41;0.176)							B2R975|P49719|Q6IBU3|Q92524	Splice_Site	SNP	ENST00000606149.1	37			.	.	.	.	.	.	.	.	.	.	G	20.3	3.964786	0.74131	.	.	ENSG00000100519	ENST00000445930;ENST00000556813	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7228	0.91702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC6	52254821	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.590000	0.82653	2.503000	0.84419	0.591000	0.81541	.		0.313	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	Intron	33	50	0	0	0	1	0	33	50				
CUBN	8029	broad.mit.edu	37	10	16979632	16979632	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16979632G>A	ENST00000377833.4	-	39	5950	c.5885C>T	c.(5884-5886)gCa>gTa	p.A1962V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1962	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCATCCACTGCAAACCACTC	0.423																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5884-5886)gCa>gTa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59.0	61.0	61.0					10																	16979632		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16979632G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5885C>T	10.37:g.16979632G>A	ENSP00000367064:p.Ala1962Val						p.A1962V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			39	5950	-			1962			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5885C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208185	0.58343	.	.	ENSG00000107611	ENST00000377833	T	0.37752	1.18	5.24	4.32	0.51571	CUB (4);	0.000000	0.38778	N	0.001572	T	0.57636	0.2067	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.57723	-0.7762	10	0.36615	T	0.2	.	13.5664	0.61822	0.0753:0.0:0.9247:0.0	.	1962	O60494	CUBN_HUMAN	V	1962	ENSP00000367064:A1962V	ENSP00000367064:A1962V	A	-	2	0	CUBN	17019638	1.000000	0.71417	0.957000	0.39632	0.206000	0.24218	6.780000	0.75063	2.588000	0.87417	0.591000	0.81541	GCA		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	32	0	0	0	1	0	21	32				
RGS3	5998	broad.mit.edu	37	9	116346414	116346414	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116346414G>A	ENST00000374140.2	+	21	2931	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	RGS3_ENST00000350696.5_Missense_Mutation_p.G908R|RGS3_ENST00000343817.5_Missense_Mutation_p.G627R|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.G229R|RGS3_ENST00000374134.3_Missense_Mutation_p.G229R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	908					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGACAACTACGGAGAGCGCAG	0.657																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2722-2724)Gga>Aga		regulator of G-protein signaling 3							127.0	96.0	107.0					9																	116346414		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346414G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2722G>A	9.37:g.116346414G>A	ENSP00000363255:p.Gly908Arg					RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.G627R|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.G229R|RGS3_ENST00000374134.3_Missense_Mutation_p.G229R|RGS3_ENST00000350696.5_Missense_Mutation_p.G908R	p.G908R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			21	2931	+			908					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2722G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308668	0.40895	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.56611	0.96;0.96;0.47;0.45;0.45	5.05	3.12	0.35913	.	0.443666	0.20619	N	0.088805	T	0.53094	0.1775	L	0.27053	0.805	0.80722	D	1	D;B;D;B;B;B	0.76494	0.999;0.021;0.999;0.021;0.022;0.152	D;B;D;B;B;B	0.68192	0.956;0.006;0.935;0.006;0.003;0.007	T	0.51309	-0.8722	10	0.48119	T	0.1	.	6.5867	0.22624	0.1094:0.2782:0.6124:0.0	.	247;804;229;627;798;908	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	R	908;908;627;229;229	ENSP00000363255:G908R;ENSP00000259406:G908R;ENSP00000340284:G627R;ENSP00000420356:G229R;ENSP00000363249:G229R	ENSP00000340284:G627R	G	+	1	0	RGS3	115386235	0.984000	0.35163	0.023000	0.16930	0.934000	0.57294	2.209000	0.42806	1.087000	0.41251	0.455000	0.32223	GGA		0.657	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		10	19	0	0	0	1	0	10	19				
ZNF48	197407	broad.mit.edu	37	16	30409209	30409209	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30409209C>T	ENST00000320159.2	+	2	1014	c.638C>T	c.(637-639)aCa>aTa	p.T213I	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CACCAGCGGACACACACTGGT	0.602																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(637-639)aCa>aTa		zinc finger protein 48							41.0	47.0	45.0					16																	30409209		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409209C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.638C>T	16.37:g.30409209C>T	ENSP00000324056:p.Thr213Ile						p.T213I	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1014	+			213					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.638C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	7.217	0.596522	0.13875	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.19532	2.14	5.15	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000925	T	0.09335	0.0230	N	0.02111	-0.68	0.29897	N	0.824754	B	0.20671	0.047	B	0.40534	0.332	T	0.44174	-0.9345	10	0.02654	T	1	-12.3778	8.1462	0.31113	0.0:0.8243:0.0:0.1757	.	213	Q96MX3	ZNF48_HUMAN	I	338;213	ENSP00000324056:T213I	ENSP00000324056:T213I	T	+	2	0	ZNF48	30316710	0.000000	0.05858	0.967000	0.41034	0.971000	0.66376	0.002000	0.13061	2.677000	0.91161	0.563000	0.77884	ACA		0.602	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		14	18	0	0	0	1	0	14	18				
GSN	2934	broad.mit.edu	37	9	124079467	124079467	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124079467G>A	ENST00000373818.4	+	7	1079	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	GSN_ENST00000394353.2_Missense_Mutation_p.G297D|GSN_ENST00000373807.1_Missense_Mutation_p.G68D|GSN_ENST00000373823.3_Missense_Mutation_p.G286D|GSN_ENST00000412819.1_Missense_Mutation_p.G286D|GSN_ENST00000436847.1_Missense_Mutation_p.G297D|GSN_ENST00000341272.2_Missense_Mutation_p.G286D|GSN_ENST00000545652.1_Missense_Mutation_p.G294D|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000449733.1_Missense_Mutation_p.G286D|GSN_ENST00000373808.2_Missense_Mutation_p.G286D	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	337					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CTGGACCACGGCAAAGATGGG	0.567																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(856-858)gGc>gAc		gelsolin							130.0	129.0	129.0					9																	124079467		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124079467G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1010G>A	9.37:g.124079467G>A	ENSP00000362924:p.Gly337Asp					GSN_ENST00000373818.4_Missense_Mutation_p.G337D|GSN_ENST00000545652.1_Missense_Mutation_p.G294D|GSN_ENST00000373808.2_Missense_Mutation_p.G286D|GSN_ENST00000373807.1_Missense_Mutation_p.G68D|GSN_ENST00000412819.1_Missense_Mutation_p.G286D|GSN_ENST00000449733.1_Missense_Mutation_p.G286D|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000341272.2_Missense_Mutation_p.G286D|GSN_ENST00000436847.1_Missense_Mutation_p.G297D|GSN_ENST00000394353.2_Missense_Mutation_p.G297D	p.G286D			P06396	GELS_HUMAN			15	1762	+			337					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.857G>A	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099004	0.76870	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807	T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.24	5.24	0.73138	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.998;1.0	D	0.86181	0.1606	10	0.72032	D	0.01	-27.7388	17.8238	0.88658	0.0:0.0:1.0:0.0	.	310;294;297;68;337	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	D	286;297;297;286;286;286;286;270;260;294;337;68	ENSP00000362929:G286D;ENSP00000411293:G297D;ENSP00000377882:G297D;ENSP00000409358:G286D;ENSP00000416586:G286D;ENSP00000340888:G286D;ENSP00000362914:G286D;ENSP00000445823:G294D;ENSP00000362924:G337D;ENSP00000362913:G68D	ENSP00000340888:G286D	G	+	2	0	GSN	123119288	1.000000	0.71417	0.792000	0.32020	0.274000	0.26718	9.255000	0.95524	2.448000	0.82819	0.561000	0.74099	GGC		0.567	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		35	66	0	0	0	1	0	35	66				
PLXNA1	5361	broad.mit.edu	37	3	126749233	126749233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126749233C>T	ENST00000393409.2	+	28	5209	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1714C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1737					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTGACGTGCGCCACACCTG	0.642																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5140-5142)Cgc>Tgc		plexin A1							115.0	104.0	108.0					3																	126749233		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749233C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5209C>T	3.37:g.126749233C>T	ENSP00000377061:p.Arg1737Cys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1737C	p.R1714C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5209	+			1737						Missense_Mutation	SNP	ENST00000393409.2	37	c.5140C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731087	0.48939	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11277	2.79;2.79	3.73	3.73	0.42828	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.277122	0.27705	N	0.018181	T	0.26448	0.0646	L	0.59912	1.85	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.973;1.0	T	0.00738	-1.1587	10	0.52906	T	0.07	.	11.2676	0.49120	0.2328:0.7672:0.0:0.0	.	351;1737	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	C	1737;1714	ENSP00000377061:R1737C;ENSP00000251772:R1714C	ENSP00000251772:R1714C	R	+	1	0	PLXNA1	128231923	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	2.958000	0.49145	2.066000	0.61787	0.313000	0.20887	CGC		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	52	0	0	0	1	0	6	52				
KIAA0319L	79932	broad.mit.edu	37	1	35900535	35900535	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35900535G>A	ENST00000325722.3	-	21	3344	c.3110C>T	c.(3109-3111)aCc>aTc	p.T1037I	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T474I	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1037						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCAGAGGGGTCTGCCCGTT	0.617																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3109-3111)aCc>aTc		KIAA0319-like							61.0	58.0	59.0					1																	35900535		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900535G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3110C>T	1.37:g.35900535G>A	ENSP00000318406:p.Thr1037Ile					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T474I	p.T1037I	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3344	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1037					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.3110C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645818	0.47258	.	.	ENSG00000142687	ENST00000325722;ENST00000373266	T;T	0.10005	3.24;2.92	4.62	4.62	0.57501	.	0.296050	0.36134	N	0.002765	T	0.06188	0.0160	N	0.14661	0.345	0.80722	D	1	B;B	0.24823	0.112;0.001	B;B	0.18871	0.023;0.006	T	0.39014	-0.9634	10	0.26408	T	0.33	-0.9249	10.0349	0.42122	0.1021:0.0:0.8978:0.0	.	1037;479	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	I	1037;474	ENSP00000318406:T1037I;ENSP00000362363:T474I	ENSP00000318406:T1037I	T	-	2	0	KIAA0319L	35673122	0.996000	0.38824	0.997000	0.53966	0.932000	0.56968	2.589000	0.46145	2.401000	0.81631	0.563000	0.77884	ACC		0.617	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		8	23	0	0	0	1	0	8	23				
CFHR5	81494	broad.mit.edu	37	1	196963273	196963273	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196963273A>G	ENST00000256785.4	+	4	603	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	CFHR5_ENST00000367414.5_Missense_Mutation_p.Y189C			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAGAAAGCTACAAAGTTGGA	0.333																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(565-567)tAc>tGc		complement factor H-related 5							89.0	102.0	97.0					1																	196963273		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963273A>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.494A>G	1.37:g.196963273A>G	ENSP00000256785:p.Tyr165Cys					CFHR5_ENST00000256785.4_Missense_Mutation_p.Y165C	p.Y189C	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			4	622	+			165			Sushi 3.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.566A>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	9.015	0.983493	0.18889	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.69926	-0.44;-0.44	3.98	3.98	0.46160	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.84101	0.5398	M	0.92555	3.32	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74247	-0.3727	9	0.87932	D	0	.	9.2685	0.37657	1.0:0.0:0.0:0.0	.	165	Q9BXR6	FHR5_HUMAN	C	189;165	ENSP00000356384:Y189C;ENSP00000256785:Y165C	ENSP00000256785:Y165C	Y	+	2	0	CFHR5	195229896	0.524000	0.26282	0.007000	0.13788	0.013000	0.08279	2.956000	0.49129	1.448000	0.47680	0.247000	0.18012	TAC		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		33	51	0	0	0	1	0	33	51				
SBDS	51119	broad.mit.edu	37	7	66458255	66458255	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66458255G>T	ENST00000246868.2	-	3	591	c.408C>A	c.(406-408)gcC>gcA	p.A136A		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	136					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGTCCTTCATGGCTCTCTCAA	0.413			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(406-408)gcC>gcA		Shwachman-Bodian-Diamond syndrome							293.0	263.0	273.0					7																	66458255		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458255G>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.408C>A	7.37:g.66458255G>T							p.A136A	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			3	591	-			136					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.408C>A	CCDS5537.1																																																																																				0.413	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		67	123	1	0	1.93348e-29	1	2.16538e-29	67	123				
BCHE	590	broad.mit.edu	37	3	165548402	165548402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:165548402C>T	ENST00000264381.3	-	2	586	c.420G>A	c.(418-420)tgG>tgA	p.W140*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	140					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CACCATAAATCCATATCAATA	0.383																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(418-420)tgG>tgA		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						59.0	62.0	61.0					3																	165548402		2203	4300	6503	SO:0001587	stop_gained	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548402C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.420G>A	3.37:g.165548402C>T	ENSP00000264381:p.Trp140*					BCHE_ENST00000540653.1_Intron	p.W140*	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	586	-			140					A8K7P8	Nonsense_Mutation	SNP	ENST00000264381.3	37	c.420G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	37	6.137692	0.97315	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.109	0.93309	0.0:1.0:0.0:0.0	.	.	.	.	X	140	.	ENSP00000264381:W140X	W	-	3	0	BCHE	167031096	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.866000	0.69590	2.758000	0.94735	0.655000	0.94253	TGG		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			24	48	0	0	0	1	0	24	48				
PHOX2B	8929	broad.mit.edu	37	4	41748140	41748140	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41748140G>A	ENST00000226382.2	-	3	988	c.629C>T	c.(628-630)gCg>gTg	p.A210V	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	210					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.A210V(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						gccTCCATTCGCCCCGCAGCT	0.756			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"""Mis, F"""	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - Missense(1)	p.A210V(1)	urinary_tract(1)	autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(628-630)gCg>gTg		paired-like homeobox 2b							22.0	24.0	23.0					4																	41748140		2202	4299	6501	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41748140G>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.629C>T	4.37:g.41748140G>A	ENSP00000226382:p.Ala210Val						p.A210V	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			3	988	-			210					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.629C>T	CCDS3463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.91|12.91	2.080063|2.080063	0.36662|0.36662	.|.	.|.	ENSG00000109132|ENSG00000109132	ENST00000226382|ENST00000510424	D|.	0.92495|.	-3.05|.	4.4|4.4	2.63|2.63	0.31362|0.31362	.|.	0.852543|.	0.09842|.	N|.	0.748704|.	T|.	0.17109|.	0.0411|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|.	0.25433|.	-1.0132|.	10|.	0.26408|.	T|.	0.33|.	.|.	6.5641|6.5641	0.22503|0.22503	0.1031:0.4131:0.4838:0.0|0.1031:0.4131:0.4838:0.0	.|.	210|.	Q99453|.	PHX2B_HUMAN|.	V|X	210|150	ENSP00000226382:A210V|.	ENSP00000226382:A210V|.	A|R	-|-	2|1	0|2	PHOX2B|PHOX2B	41442897|41442897	0.987000|0.987000	0.35691|0.35691	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.000000|0.000000	0.12993|0.12993	0.439000|0.439000	0.26476|0.26476	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.756	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			19	32	0	0	0	1	0	19	32				
ZMYND8	23613	broad.mit.edu	37	20	45905189	45905189	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45905189G>A	ENST00000311275.7	-	11	1542	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	430					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P450L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGGAGCGCGGCATATCCGA	0.597																																						ENST00000311275.7																			1	Substitution - Missense(1)	p.P450L(1)	kidney(1)	NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1288-1290)cCg>cTg		zinc finger, MYND-type containing 8							76.0	65.0	69.0					20																	45905189		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905189G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1289C>T	20.37:g.45905189G>A	ENSP00000312237:p.Pro430Leu					ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367L	p.P430L			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1542	-			430					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1289C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.093744	0.76870	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96491	-3.05;-2.88;-2.96;-2.99;-2.93;-2.96;-3.02;-2.93;-2.9;-4.03;-3.02;-3.06;-1.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.985;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.97110	0.994;0.992;1.0;1.0;1.0;1.0;0.992;1.0;0.989;0.992;1.0;1.0;1.0;1.0;1.0;0.579;0.994;0.997	D	0.97752	1.0215	10	0.51188	T	0.08	-16.235	19.451	0.94867	0.0:0.0:1.0:0.0	.	425;457;425;425;405;424;450;430;425;450;450;430;367;425;425;450;425;430	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	L	425;430;425;430;450;450;430;457;430;367;450;425;425	ENSP00000354166:P425L;ENSP00000312237:P430L;ENSP00000392964:P425L;ENSP00000262975:P430L;ENSP00000420095:P450L;ENSP00000335537:P450L;ENSP00000379577:P430L;ENSP00000439800:P457L;ENSP00000348246:P430L;ENSP00000396725:P367L;ENSP00000418210:P450L;ENSP00000361093:P425L;ENSP00000443086:P425L	ENSP00000262975:P430L	P	-	2	0	ZMYND8	45338596	1.000000	0.71417	0.945000	0.38365	0.341000	0.28922	9.731000	0.98807	2.593000	0.87608	0.655000	0.94253	CCG		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		18	31	0	0	0	1	0	18	31				
IHH	3549	broad.mit.edu	37	2	219925158	219925158	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219925158T>C	ENST00000295731.6	-	1	31	c.32A>G	c.(31-33)cAc>cGc	p.H11R	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	11					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCAGAAGTGCAGTCGGGG	0.761																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(31-33)cAc>cGc		indian hedgehog							6.0	7.0	7.0					2																	219925158		1880	3813	5693	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219925158T>C	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.32A>G	2.37:g.219925158T>C	ENSP00000295731:p.His11Arg						p.H11R	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	31	-		Renal(207;0.0915)	11					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.32A>G	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	T	4.884	0.164352	0.09287	.	.	ENSG00000163501	ENST00000295731	D	0.99735	-6.58	4.38	-0.0956	0.13640	.	1.209660	0.06188	N	0.680767	D	0.96106	0.8731	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.97148	0.9829	10	0.25106	T	0.35	-2.5294	2.3813	0.04355	0.1514:0.5198:0.1475:0.1812	.	11	Q14623	IHH_HUMAN	R	11	ENSP00000295731:H11R	ENSP00000295731:H11R	H	-	2	0	IHH	219633402	0.014000	0.17966	0.660000	0.29694	0.768000	0.43524	-0.004000	0.12878	-0.311000	0.08754	-0.635000	0.03985	CAC		0.761	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		5	5	0	0	0	1	0	5	5				
ARHGAP24	83478	broad.mit.edu	37	4	86916274	86916274	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:86916274C>T	ENST00000395184.1	+	9	1933	c.1467C>T	c.(1465-1467)agC>agT	p.S489S	ARHGAP24_ENST00000395183.2_Silent_p.S394S|ARHGAP24_ENST00000264343.4_Silent_p.S396S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	489					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTGAACAGCGACACACTCG	0.512																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1465-1467)agC>agT		Rho GTPase activating protein 24							115.0	110.0	111.0					4																	86916274		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916274C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1467C>T	4.37:g.86916274C>T						ARHGAP24_ENST00000264343.4_Silent_p.S396S|ARHGAP24_ENST00000395183.2_Silent_p.S394S	p.S489S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	489					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.1467C>T	CCDS34025.1																																																																																				0.512	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		16	35	0	0	0	1	0	16	35				
AP1AR	55435	broad.mit.edu	37	4	113184195	113184195	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113184195G>A	ENST00000274000.5	+	6	689	c.334G>A	c.(334-336)Gca>Aca	p.A112T	AP1AR_ENST00000309703.6_Intron	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	112	Interaction with AP1G1.				cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TTTATACGCTGCACAGCGTGA	0.423																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(334-336)Gca>Aca		adaptor-related protein complex 1 associated regulatory protein							65.0	72.0	70.0					4																	113184195		2203	4300	6503	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113184195G>A	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.334G>A	4.37:g.113184195G>A	ENSP00000274000:p.Ala112Thr					AP1AR_ENST00000309703.6_Intron	p.A112T	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			6	689	+			112			Interaction with AP1G1.		B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.334G>A	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769829	0.69992	.	.	ENSG00000138660	ENST00000274000	T	0.58652	0.32	5.55	3.79	0.43588	.	0.055381	0.64402	D	0.000001	T	0.47303	0.1438	L	0.38531	1.155	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.20184	0.028;0.028	T	0.50608	-0.8808	10	0.59425	D	0.04	-21.8436	12.625	0.56623	0.1207:0.0:0.8793:0.0	.	112;112	B2RCV7;Q63HQ0	.;AP1AR_HUMAN	T	112	ENSP00000274000:A112T	ENSP00000274000:A112T	A	+	1	0	AP1AR	113403644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.288000	0.78691	2.605000	0.88082	0.561000	0.74099	GCA		0.423	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		11	15	0	0	0	1	0	11	15				
HS6ST1	9394	broad.mit.edu	37	2	129026327	129026327	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:129026327C>T	ENST00000259241.6	-	2	658	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	215					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.T215T(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CAGGCGTGGGCGTGCGCCCAT	0.652																																						ENST00000259241.6																			1	Substitution - coding silent(1)	p.T215T(1)	endometrium(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(643-645)acG>acA		heparan sulfate 6-O-sulfotransferase 1							45.0	55.0	52.0					2																	129026327		2164	4267	6431	SO:0001819	synonymous_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026327C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.645G>A	2.37:g.129026327C>T							p.T215T	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	658	-	Colorectal(110;0.1)		215					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	c.645G>A	CCDS42748.1																																																																																				0.652	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		22	25	0	0	0	1	0	22	25				
MYH2	4620	broad.mit.edu	37	17	10426938	10426938	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10426938C>T	ENST00000245503.5	-	37	5731	c.5347G>A	c.(5347-5349)Gcc>Acc	p.A1783T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1783T|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1783					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.A1783T(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						TCCAGGTGGGCGCTGGTGTCC	0.512																																						ENST00000245503.5																			1	Substitution - Missense(1)	p.A1783T(1)	lung(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						c.(5347-5349)Gcc>Acc		myosin, heavy chain 2, skeletal muscle, adult							109.0	110.0	109.0					17																	10426938		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426938C>T		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.5347G>A	17.37:g.10426938C>T	ENSP00000245503:p.Ala1783Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1783T	p.A1783T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			37	5731	-			1783					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5347G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612983	0.66672	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80653	-1.4;-1.4	5.46	5.46	0.80206	Myosin tail (1);	0.000000	0.39020	U	0.001488	D	0.87501	0.6193	M	0.92604	3.325	0.54753	D	0.999986	B	0.25850	0.136	B	0.32583	0.148	D	0.86550	0.1834	10	0.62326	D	0.03	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	1783	Q9UKX2	MYH2_HUMAN	T	1783	ENSP00000245503:A1783T;ENSP00000380367:A1783T	ENSP00000245503:A1783T	A	-	1	0	MYH2	10367663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.636000	0.61339	2.857000	0.98124	0.650000	0.86243	GCC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		21	93	0	0	0	1	0	21	93				
MAST1	22983	broad.mit.edu	37	19	12969611	12969611	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12969611C>T	ENST00000591495.1	+	13	1429	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	MAST1_ENST00000251472.4_Intron					microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTCAGGGCTGCGGGGTGGCCT	0.547																																						ENST00000591495.1																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1411-1413)gCg>gTg		microtubule associated serine/threonine kinase 1																																				SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969611C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000591495.1:c.1412C>T	19.37:g.12969611C>T	ENSP00000466470:p.Ala471Val					MAST1_ENST00000251472.4_Intron	p.A471V			Q9Y2H9	MAST1_HUMAN			13	1429	+			0			Protein kinase.			Missense_Mutation	SNP	ENST00000591495.1	37	c.1412C>T																																																																																					0.547	MAST1-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451731.1	NM_014975		8	9	0	0	0	1	0	8	9				
FGF10	2255	broad.mit.edu	37	5	44388600	44388600	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:44388600C>T	ENST00000264664.4	-	1	299	c.185G>A	c.(184-186)aGc>aAc	p.S62N	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	62	Poly-Ser.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CCTTCCCGCGCTGGAAGGAGA	0.527																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(184-186)aGc>aAc		fibroblast growth factor 10							57.0	58.0	58.0					5																	44388600		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388600C>T		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.185G>A	5.37:g.44388600C>T	ENSP00000264664:p.Ser62Asn						p.S62N	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	299	-	Lung NSC(6;1.12e-06)		62			Poly-Ser.		C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.185G>A	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020409	0.35606	.	.	ENSG00000070193	ENST00000264664;ENST00000513107	T	0.75477	-0.94	5.14	5.14	0.70334	.	0.962371	0.08417	U	0.949019	T	0.66356	0.2781	L	0.47016	1.485	0.29437	N	0.859432	P	0.38978	0.652	B	0.26693	0.072	T	0.59690	-0.7407	10	0.20046	T	0.44	.	16.4057	0.83669	0.0:1.0:0.0:0.0	.	62	O15520	FGF10_HUMAN	N	62	ENSP00000264664:S62N	ENSP00000264664:S62N	S	-	2	0	FGF10	44424357	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.194000	0.65125	2.383000	0.81215	0.561000	0.74099	AGC		0.527	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		15	21	0	0	0	1	0	15	21				
TMCC3	57458	broad.mit.edu	37	12	94975842	94975842	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94975842C>T	ENST00000261226.4	-	2	682	c.551G>A	c.(550-552)aGc>aAc	p.S184N	TMCC3_ENST00000551457.1_Missense_Mutation_p.S153N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	184						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCCCGATTTGCTGCTCTCCAT	0.498																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(550-552)aGc>aAc		transmembrane and coiled-coil domain family 3							87.0	93.0	91.0					12																	94975842		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975842C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.551G>A	12.37:g.94975842C>T	ENSP00000261226:p.Ser184Asn					TMCC3_ENST00000551457.1_Missense_Mutation_p.S153N	p.S184N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	682	-			184					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.551G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618318	0.28801	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	5.74	4.83	0.62350	.	0.429601	0.30920	N	0.008620	T	0.24967	0.0606	N	0.12182	0.205	0.24222	N	0.995436	B	0.11235	0.004	B	0.13407	0.009	T	0.13442	-1.0509	10	0.23891	T	0.37	-2.5071	12.1284	0.53930	0.0:0.8119:0.1215:0.0666	.	184	Q9ULS5	TMCC3_HUMAN	N	184;153	ENSP00000261226:S184N;ENSP00000449888:S153N	ENSP00000261226:S184N	S	-	2	0	TMCC3	93499973	0.102000	0.21896	0.198000	0.23420	0.657000	0.38888	1.438000	0.35002	1.527000	0.49086	0.561000	0.74099	AGC		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		14	88	0	0	0	1	0	14	88				
SLC22A10	387775	broad.mit.edu	37	11	63065164	63065164	+	Silent	SNP	G	G	A	rs146046305	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63065164G>A	ENST00000332793.6	+	4	797	c.795G>A	c.(793-795)gcG>gcA	p.A265A	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Silent_p.A55A|SLC22A10_ENST00000544661.1_Silent_p.A110A	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ACGTGGTGGCGTCTGTACCTT	0.443													G|||	12	0.00239617	0.0008	0.0029	5008	,	,		17426	0.001		0.005	False		,,,				2504	0.0031					ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(328-330)gcG>gcA		solute carrier family 22, member 10		G		2,3896		0,2,1947	167.0	156.0	160.0		795	-6.0	0.0	11	dbSNP_134	160	41,8221		1,39,4091	no	coding-synonymous	SLC22A10	NM_001039752.3		1,41,6038	AA,AG,GG		0.4962,0.0513,0.3536		265/542	63065164	43,12117	1949	4131	6080	SO:0001819	synonymous_variant	387775					integral to membrane	transmembrane transporter activity	g.chr11:63065164G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.795G>A	11.37:g.63065164G>A						SLC22A10_ENST00000332793.6_Silent_p.A265A|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Silent_p.A55A	p.A110A			Q63ZE4	S22AA_HUMAN			5	758	+			265					Q68CJ0	Silent	SNP	ENST00000332793.6	37	c.330G>A	CCDS41661.1																																																																																				0.443	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		40	55	0	0	0	1	0	40	55				
TTN	7273	broad.mit.edu	37	2	179435501	179435501	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179435501T>C	ENST00000591111.1	-	276	70659	c.70435A>G	c.(70435-70437)Aca>Gca	p.T23479A	TTN_ENST00000342992.6_Missense_Mutation_p.T22552A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16180A|TTN_ENST00000460472.2_Missense_Mutation_p.T16055A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T25120A|TTN_ENST00000342175.6_Missense_Mutation_p.T16247A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23479	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACGATTGTGTCTTTGTAT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75358-75360)Aca>Gca		titin							289.0	256.0	267.0					2																	179435501		1968	4157	6125	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435501T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70435A>G	2.37:g.179435501T>C	ENSP00000465570:p.Thr23479Ala					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16247A|TTN_ENST00000591111.1_Missense_Mutation_p.T23479A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16055A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22552A|TTN_ENST00000359218.5_Missense_Mutation_p.T16180A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.T25120A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75582	-			23479			Fibronectin type-III 82.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75358A>G		.	.	.	.	.	.	.	.	.	.	T	10.84	1.465248	0.26335	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.72	4.54	0.55810	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33556	0.0867	L	0.33137	0.985	0.43283	D	0.995255	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.10965	-1.0607	9	0.87932	D	0	.	12.189	0.54257	0.0:0.0676:0.0:0.9324	.	16055;16180;16247;23479	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	22552;16055;16247;16180;16053	ENSP00000343764:T22552A;ENSP00000434586:T16055A;ENSP00000340554:T16247A;ENSP00000352154:T16180A	ENSP00000340554:T16247A	T	-	1	0	TTN	179143747	1.000000	0.71417	0.869000	0.34112	0.951000	0.60555	2.132000	0.42083	1.051000	0.40369	0.528000	0.53228	ACA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	71	0	0	0	1	0	40	71				
CFAP57	149465	broad.mit.edu	37	1	43672498	43672498	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43672498C>T	ENST00000372492.4	+	10	1974	c.1650C>T	c.(1648-1650)tgC>tgT	p.C550C	WDR65_ENST00000528956.1_Silent_p.C550C	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		550										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGACAGAATGCGTGCTCAAGT	0.458																																						ENST00000372492.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1648-1650)tgC>tgT		WD repeat domain 65							245.0	210.0	222.0					1																	43672498		2203	4300	6503	SO:0001819	synonymous_variant	149465							g.chr1:43672498C>T																												ENST00000372492.4:c.1650C>T	1.37:g.43672498C>T						WDR65_ENST00000528956.1_Silent_p.C550C	p.C550C	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			10	1974	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	550					A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	ENST00000372492.4	37	c.1650C>T																																																																																					0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			17	72	0	0	0	1	0	17	72				
SCIN	85477	broad.mit.edu	37	7	12679999	12679999	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:12679999G>A	ENST00000297029.5	+	11	1539	c.1438G>A	c.(1438-1440)Gtt>Att	p.V480I	SCIN_ENST00000519209.1_Missense_Mutation_p.V233I|SCIN_ENST00000445618.2_Missense_Mutation_p.V233I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	480	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAAAGAGCCTGTTCACCTACT	0.443																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(1438-1440)Gtt>Att		scinderin							57.0	55.0	56.0					7																	12679999		1857	4096	5953	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12679999G>A	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1438G>A	7.37:g.12679999G>A	ENSP00000297029:p.Val480Ile					SCIN_ENST00000445618.2_Missense_Mutation_p.V233I|SCIN_ENST00000519209.1_Missense_Mutation_p.V233I	p.V480I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1539	+			480			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1438G>A	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503368	0.26949	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.54071	0.59;0.59;0.59	4.56	2.58	0.30949	Gelsolin domain (1);	0.268520	0.35096	N	0.003459	T	0.21962	0.0529	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	10	0.41790	T	0.15	-5.6723	7.2011	0.25881	0.0799:0.2053:0.6143:0.1004	.	480	Q9Y6U3	ADSV_HUMAN	I	480;233;233	ENSP00000297029:V480I;ENSP00000430997:V233I;ENSP00000390189:V233I	ENSP00000297029:V480I	V	+	1	0	SCIN	12646524	0.001000	0.12720	1.000000	0.80357	0.972000	0.66771	0.012000	0.13287	0.364000	0.24374	-1.134000	0.01955	GTT		0.443	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		11	24	0	0	0	1	0	11	24				
LDHB	3945	broad.mit.edu	37	12	21790097	21790097	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21790097T>C	ENST00000396076.1	-	7	1077	c.745A>G	c.(745-747)Acc>Gcc	p.T249A	LDHB_ENST00000350669.1_Missense_Mutation_p.T249A	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	249					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						GCCCAGTTGGTATATCCTTTT	0.348																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(745-747)Acc>Gcc		lactate dehydrogenase B	NADH(DB00157)						100.0	102.0	101.0					12																	21790097		2203	4299	6502	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21790097T>C		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.745A>G	12.37:g.21790097T>C	ENSP00000379386:p.Thr249Ala					LDHB_ENST00000350669.1_Missense_Mutation_p.T249A	p.T249A	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			7	1077	-			249						Missense_Mutation	SNP	ENST00000396076.1	37	c.745A>G	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178393	0.78564	.	.	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.63255	-0.03;-0.03	4.77	4.77	0.60923	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.045380	0.85682	D	0.000000	T	0.76328	0.3972	M	0.92122	3.275	0.80722	D	1	P	0.45715	0.865	P	0.48030	0.564	T	0.83279	-0.0039	10	0.72032	D	0.01	.	14.5034	0.67737	0.0:0.0:0.0:1.0	.	249	P07195	LDHB_HUMAN	A	249	ENSP00000379386:T249A;ENSP00000229319:T249A	ENSP00000229319:T249A	T	-	1	0	LDHB	21681364	1.000000	0.71417	0.737000	0.30932	0.925000	0.55904	7.851000	0.86920	2.026000	0.59711	0.397000	0.26171	ACC		0.348	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		26	57	0	0	0	1	0	26	57				
SCUBE3	222663	broad.mit.edu	37	6	35205730	35205730	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35205730C>T	ENST00000274938.7	+	7	764	c.764C>T	c.(763-765)gCg>gTg	p.A255V	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A271V	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CATGATGCAGCGACTGGTGTC	0.552																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(763-765)gCg>gTg		signal peptide, CUB domain, EGF-like 3							125.0	104.0	111.0					6																	35205730		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35205730C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.764C>T	6.37:g.35205730C>T	ENSP00000274938:p.Ala255Val					SCUBE3_ENST00000394681.1_Missense_Mutation_p.A271V	p.A255V	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			7	764	+			255			EGF-like 6.			Missense_Mutation	SNP	ENST00000274938.7	37	c.764C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923275	0.52653	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96265	-3.96;-3.96	5.38	5.38	0.77491	Epidermal growth factor-like (1);	0.064498	0.64402	D	0.000007	D	0.84356	0.5454	N	0.04768	-0.165	0.47778	D	0.999519	B;B	0.21821	0.061;0.029	B;B	0.16289	0.015;0.005	T	0.82686	-0.0334	10	0.07813	T	0.8	.	19.1344	0.93420	0.0:1.0:0.0:0.0	.	271;255	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	V	271;255	ENSP00000378174:A271V;ENSP00000274938:A255V	ENSP00000274938:A255V	A	+	2	0	SCUBE3	35313708	0.997000	0.39634	0.944000	0.38274	0.939000	0.58152	3.768000	0.55295	2.523000	0.85059	0.491000	0.48974	GCG		0.552	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		21	43	0	0	0	1	0	21	43				
PSMD14	10213	broad.mit.edu	37	2	162224311	162224311	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:162224311G>A	ENST00000409682.3	+	5	841	c.137G>A	c.(136-138)cGt>cAt	p.R46H		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	46	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.R46H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						AAACATGGCCGTGCTGGAGTT	0.388																																						ENST00000409682.3																			1	Substitution - Missense(1)	p.R46H(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(136-138)cGt>cAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 14							124.0	116.0	118.0					2																	162224311		1906	4132	6038	SO:0001583	missense	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162224311G>A	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.137G>A	2.37:g.162224311G>A	ENSP00000386541:p.Arg46His						p.R46H	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN			5	841	+			46			MPN.		B3KNW2|O00176	Missense_Mutation	SNP	ENST00000409682.3	37	c.137G>A	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678389	0.96764	.	.	ENSG00000115233	ENST00000409682;ENST00000437630	T;T	0.56275	0.47;0.47	5.94	5.94	0.96194	.	0.046806	0.85682	D	0.000000	T	0.71333	0.3327	M	0.65677	2.01	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	T	0.72207	-0.4360	10	0.87932	D	0	-1.5151	20.3593	0.98849	0.0:0.0:1.0:0.0	.	46	O00487	PSDE_HUMAN	H	46	ENSP00000386541:R46H;ENSP00000399311:R46H	ENSP00000386541:R46H	R	+	2	0	PSMD14	161932557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.807000	0.96579	0.591000	0.81541	CGT		0.388	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		7	14	0	0	0	1	0	7	14				
CSMD2	114784	broad.mit.edu	37	1	34123626	34123626	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34123626G>A	ENST00000373380.1	-	6	1206	c.986C>T	c.(985-987)gCg>gTg	p.A329V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.A1456V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCTGCAGCGCGTAGCCAGG	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4366-4368)gCg>gTg		CUB and Sushi multiple domains 2							120.0	111.0	114.0					1																	34123626		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123626G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.986C>T	1.37:g.34123626G>A	ENSP00000362478:p.Ala329Val					CSMD2_ENST00000373380.1_Missense_Mutation_p.A329V|CSMD2_ENST00000373388.2_5'UTR	p.A1456V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			27	4543	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1416			CUB 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4367C>T		.	.	.	.	.	.	.	.	.	.	g	12.50	1.957050	0.34565	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.62639	0.01;0.01	5.78	2.75	0.32379	Complement control module (2);Sushi/SCR/CCP (3);	0.422247	0.26146	N	0.026078	T	0.31040	0.0784	N	0.02296	-0.605	0.18873	N	0.999985	B;B;B	0.12630	0.002;0.006;0.0	B;B;B	0.15484	0.013;0.009;0.002	T	0.15407	-1.0438	10	0.42905	T	0.14	.	5.1197	0.14854	0.2353:0.0:0.6222:0.1425	.	329;1416;1456	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	1456;329	ENSP00000362479:A1456V;ENSP00000362478:A329V	ENSP00000241312:A1416V	A	-	2	0	CSMD2	33896213	0.007000	0.16637	0.003000	0.11579	0.900000	0.52787	1.945000	0.40273	0.720000	0.32209	0.558000	0.71614	GCG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		13	57	0	0	0	1	0	13	57				
EPB41L3	23136	broad.mit.edu	37	18	5489101	5489101	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5489101G>A	ENST00000341928.2	-	2	422	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R28C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R28C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R28C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	28					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						gcccccgcgcgcccctgcgcc	0.716																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(82-84)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							15.0	17.0	17.0					18																	5489101		2142	4161	6303	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489101G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.82C>T	18.37:g.5489101G>A	ENSP00000343158:p.Arg28Cys					EPB41L3_ENST00000400111.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R28C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R28C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R28C	p.R28C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			2	422	-			28					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.82C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019581	0.35606	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	T;D;T;D	0.82711	-1.45;-1.6;-1.45;-1.64	5.38	1.09	0.20402	.	3.702960	0.00575	N	0.000314	T	0.72203	0.3431	N	0.08118	0	0.09310	N	1	P;P;P;P	0.51653	0.924;0.566;0.947;0.912	B;B;B;B	0.43123	0.409;0.121;0.219;0.109	T	0.65825	-0.6074	10	0.42905	T	0.14	.	10.5916	0.45312	0.0:0.4076:0.4523:0.1401	.	28;28;28;28	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	C	28;28;28;28;109	ENSP00000343158:R28C;ENSP00000441174:R28C;ENSP00000341138:R28C;ENSP00000382981:R28C	ENSP00000343158:R28C	R	-	1	0	EPB41L3	5479101	0.001000	0.12720	0.029000	0.17559	0.021000	0.10359	1.001000	0.29783	0.201000	0.20466	-0.311000	0.09066	CGC		0.716	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	13	0	0	0	1	0	12	13				
ADAMTS17	170691	broad.mit.edu	37	15	100589123	100589123	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100589123G>A	ENST00000268070.4	-	18	2635	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	844	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTGCTTGAGGGCAGTCACTG	0.577																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2530-2532)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 17							156.0	121.0	133.0					15																	100589123		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100589123G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2530C>T	15.37:g.100589123G>A	ENSP00000268070:p.Pro844Ser						p.P844S	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	18	2635	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		844			TSP type-1 2.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2530C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484643	0.26598	.	.	ENSG00000140470	ENST00000268070	T	0.60920	0.15	4.59	3.68	0.42216	.	0.353536	0.25941	N	0.027301	T	0.35158	0.0922	N	0.04880	-0.145	0.36690	D	0.87951	B	0.06786	0.001	B	0.04013	0.001	T	0.25398	-1.0133	10	0.34782	T	0.22	.	12.6458	0.56733	0.0809:0.0:0.9191:0.0	.	844	Q8TE56	ATS17_HUMAN	S	844	ENSP00000268070:P844S	ENSP00000268070:P844S	P	-	1	0	ADAMTS17	98406646	1.000000	0.71417	0.775000	0.31657	0.976000	0.68499	4.915000	0.63355	1.047000	0.40274	0.655000	0.94253	CCT		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		16	47	0	0	0	1	0	16	47				
ZNF415	55786	broad.mit.edu	37	19	53612554	53612554	+	Silent	SNP	C	C	T	rs145985814		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53612554C>T	ENST00000500065.4	-	4	1077	c.744G>A	c.(742-744)ctG>ctA	p.L248L	ZNF415_ENST00000421033.1_Silent_p.L260L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.L296L|ZNF415_ENST00000448501.1_Silent_p.L296L|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.L248L|ZNF415_ENST00000601493.1_Silent_p.L18L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.L235L|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCTTGCCACACAGATCACATT	0.398																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(886-888)ctG>ctA		zinc finger protein 415		C	,,	0,4406		0,0,2203	97.0	87.0	91.0		744,744,744	-2.4	0.0	19	dbSNP_134	91	1,8599	818.9+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	248/556,248/556,248/556	53612554	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612554C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.744G>A	19.37:g.53612554C>T						ZNF415_ENST00000243643.4_Silent_p.L248L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.L18L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.L248L|ZNF415_ENST00000448501.1_Silent_p.L296L|ZNF415_ENST00000440291.1_Silent_p.L235L|ZNF415_ENST00000421033.1_Silent_p.L260L	p.L296L			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1208	-			296					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.888G>A	CCDS54313.1																																																																																				0.398	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		15	71	0	0	0	1	0	15	71				
DCHS1	8642	broad.mit.edu	37	11	6640450	6640450	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6640450G>A	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_Silent_p.S22S|TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_Silent_p.S22S	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCTCCGGGCTGTAACTGC	0.592																																						ENST00000299427.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(64-66)agC>agT		tripeptidyl peptidase I							82.0	78.0	79.0					11																	6640450		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640450G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640450G>A						TPP1_ENST00000528657.1_Silent_p.S22S|TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	p.S22S	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	2	126	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	22					O15098	Silent	SNP	ENST00000299441.3	37	c.66C>T	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	19	0	0	0	1	0	11	19				
ATP9A	10079	broad.mit.edu	37	20	50226672	50226672	+	Silent	SNP	G	G	A	rs148713102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50226672G>A	ENST00000338821.5	-	24	2868	c.2604C>T	c.(2602-2604)tcC>tcT	p.S868S	ATP9A_ENST00000402822.1_Silent_p.S747S|ATP9A_ENST00000311637.5_Silent_p.S732S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	868					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAGAGGGACGGAGGCAAAGT	0.413																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2602-2604)tcC>tcT		ATPase, class II, type 9A		G		1,4405	2.1+/-5.4	0,1,2202	133.0	117.0	122.0		2604	-0.8	1.0	20	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ATP9A	NM_006045.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		868/1048	50226672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50226672G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2604C>T	20.37:g.50226672G>A						ATP9A_ENST00000402822.1_Silent_p.S747S|ATP9A_ENST00000311637.5_Silent_p.S732S	p.S868S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			24	2868	-			868					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.2604C>T	CCDS33489.1																																																																																				0.413	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		11	14	0	0	0	1	0	11	14				
MAL2	114569	broad.mit.edu	37	8	120233895	120233895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120233895G>A	ENST00000276681.6	+	3	303	c.201G>A	c.(199-201)tgG>tgA	p.W67*	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	67	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TACAAGGATGGGTCATGTTTG	0.473																																						ENST00000276681.6																			0											c.(199-201)tgG>tgA		mal, T-cell differentiation protein 2 (gene/pseudogene)							265.0	264.0	264.0					8																	120233895		1984	4159	6143	SO:0001587	stop_gained	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233895G>A	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.201G>A	8.37:g.120233895G>A	ENSP00000475434:p.Trp67*					MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.W67*	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	303	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		67			MARVEL.		B2R520|Q6ZMD9	Nonsense_Mutation	SNP	ENST00000276681.6	37	c.201G>A																																																																																					0.473	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		28	133	0	0	0	1	0	28	133				
KRT16	3868	broad.mit.edu	37	17	39768714	39768714	+	Missense_Mutation	SNP	C	C	T	rs374118704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39768714C>T	ENST00000301653.4	-	1	291	c.227G>A	c.(226-228)aGc>aAc	p.S76N		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	76	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				accaAAGCTGCTGCTGCTGCT	0.657																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(226-228)aGc>aAc		keratin 16		C	ASN/SER	0,4406		0,0,2203	58.0	59.0	59.0		227	4.2	1.0	17		59	1,8593		0,1,4296	no	missense	KRT16	NM_005557.3	46	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	76/474	39768714	1,12999	2203	4297	6500	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768714C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.227G>A	17.37:g.39768714C>T	ENSP00000301653:p.Ser76Asn						p.S76N	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	291	-		Breast(137;0.000307)	76			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.227G>A	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074714	0.20227	0.0	1.16E-4	ENSG00000186832	ENST00000301653	T	0.81415	-1.49	4.21	4.21	0.49690	.	0.000000	0.52532	D	0.000077	T	0.70789	0.3264	L	0.39898	1.24	0.25849	N	0.983967	D	0.56035	0.974	B	0.42319	0.383	T	0.66767	-0.5840	10	0.45353	T	0.12	.	8.7447	0.34578	0.2751:0.585:0.1399:0.0	.	76	P08779	K1C16_HUMAN	N	76	ENSP00000301653:S76N	ENSP00000301653:S76N	S	-	2	0	KRT16	37022240	0.179000	0.23135	0.995000	0.50966	0.430000	0.31655	1.966000	0.40481	2.340000	0.79590	0.462000	0.41574	AGC		0.657	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		4	3	0	0	0	1	0	4	3				
TKTL2	84076	broad.mit.edu	37	4	164393426	164393426	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164393426T>C	ENST00000280605.3	-	1	1621	c.1461A>G	c.(1459-1461)ccA>ccG	p.P487P		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	487						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AATTTTCTTGTGGGGTATAAA	0.463																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1459-1461)ccA>ccG		transketolase-like 2							112.0	119.0	117.0					4																	164393426		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393426T>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1461A>G	4.37:g.164393426T>C							p.P487P	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1621	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	487					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1461A>G	CCDS3805.1																																																																																				0.463	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	48	0	0	0	1	0	36	48				
ZCWPW2	152098	broad.mit.edu	37	3	28562551	28562551	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:28562551G>A	ENST00000383768.2	+	9	1041	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.A285T			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	285							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAACCCACAGCCACACCTGA	0.368																																						ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(853-855)Gcc>Acc		zinc finger, CW type with PWWP domain 2							84.0	79.0	81.0					3																	28562551		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28562551G>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.853G>A	3.37:g.28562551G>A	ENSP00000373278:p.Ala285Thr					ZCWPW2_ENST00000421010.1_Missense_Mutation_p.A285T	p.A285T			Q504Y3	ZCPW2_HUMAN			9	1041	+			285						Missense_Mutation	SNP	ENST00000383768.2	37	c.853G>A	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614411|1.614411	0.28712|0.28712	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.33654|.	1.4;1.4|.	5.64|5.64	2.52|2.52	0.30459|0.30459	.|.	0.766557|.	0.11883|.	N|.	0.520352|.	T|T	0.19005|0.19005	0.0456|0.0456	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.02654|.	T|.	1|.	-3.8562|-3.8562	5.7408|5.7408	0.18092|0.18092	0.3673:0.0:0.6327:0.0|0.3673:0.0:0.6327:0.0	.|.	285|.	Q504Y3|.	ZCPW2_HUMAN|.	T|N	285|169	ENSP00000373278:A285T;ENSP00000412386:A285T|.	ENSP00000373278:A285T|.	A|S	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28537555|28537555	0.001000|0.001000	0.12720|0.12720	0.142000|0.142000	0.22268|0.22268	0.009000|0.009000	0.06853|0.06853	0.986000|0.986000	0.29590|0.29590	0.750000|0.750000	0.32877|0.32877	-0.143000|-0.143000	0.13931|0.13931	GCC|AGC		0.368	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		10	16	0	0	0	1	0	10	16				
DDX11	1663	broad.mit.edu	37	12	31236825	31236825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31236825C>T	ENST00000407793.2	+	3	474	c.223C>T	c.(223-225)Cga>Tga	p.R75*	DDX11_ENST00000545668.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.R49*|DDX11_ENST00000542838.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000251758.5_Nonsense_Mutation_p.R75*|DDX11_ENST00000350437.4_Nonsense_Mutation_p.R75*	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	75	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAAGAGGCACGACTCCTTGA	0.517										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(223-225)Cga>Tga		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							43.0	51.0	48.0					12																	31236825		2203	4297	6500	SO:0001587	stop_gained	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236825C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.223C>T	12.37:g.31236825C>T	ENSP00000384703:p.Arg75*	Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000407793.2_Nonsense_Mutation_p.R75*|DDX11_ENST00000545668.1_Nonsense_Mutation_p.R75*|DDX11_ENST00000350437.4_Nonsense_Mutation_p.R75*|DDX11_ENST00000228264.6_Nonsense_Mutation_p.R49*	p.R75*			Q96FC9	DDX11_HUMAN			3	474	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		75			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000407793.2	37	c.223C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273624	0.80580	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	.	.	.	4.48	2.63	0.31362	.	0.542064	0.18883	N	0.128532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.7961	0.29148	0.0:0.7419:0.1643:0.0938	.	.	.	.	X	75;75;75;49;75;49;75;75;111	.	ENSP00000228264:R49X	R	+	1	2	DDX11	31128092	0.005000	0.15991	0.018000	0.16275	0.512000	0.34134	1.293000	0.33353	0.503000	0.28060	0.430000	0.28490	CGA		0.517	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		21	38	0	0	0	1	0	21	38				
UNC119B	84747	broad.mit.edu	37	12	121151157	121151157	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121151157G>A	ENST00000344651.4	+	2	365	c.325G>A	c.(325-327)Gta>Ata	p.V109I	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	109					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACAGGGACAGTACTTTTTGA	0.398											OREG0022197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(325-327)Gta>Ata		unc-119 homolog B (C. elegans)							148.0	134.0	139.0					12																	121151157		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121151157G>A		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.325G>A	12.37:g.121151157G>A	ENSP00000344942:p.Val109Ile		OREG0022197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1509	UNC119B_ENST00000539658.1_3'UTR	p.V109I	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN			2	365	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		109						Missense_Mutation	SNP	ENST00000344651.4	37	c.325G>A	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131129	0.77549	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.25	5.25	0.73442	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.64567	1.98	0.80722	D	1	B	0.17465	0.022	B	0.15052	0.012	T	0.60929	-0.7165	9	0.30854	T	0.27	-19.845	19.0487	0.93032	0.0:0.0:1.0:0.0	.	109	A6NIH7	U119B_HUMAN	I	109	.	ENSP00000344942:V109I	V	+	1	0	UNC119B	119635540	1.000000	0.71417	0.986000	0.45419	0.946000	0.59487	9.652000	0.98499	2.724000	0.93272	0.563000	0.77884	GTA		0.398	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		23	65	0	0	0	1	0	23	65				
FUT4	2526	broad.mit.edu	37	11	94278738	94278738	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94278738C>T	ENST00000358752.2	+	1	1722	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	480					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCAACCCCGCGGTCTATCGC	0.647																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1438-1440)gCg>gTg		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							40.0	43.0	42.0					11																	94278738		2201	4298	6499	SO:0001583	missense	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278738C>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1439C>T	11.37:g.94278738C>T	ENSP00000351602:p.Ala480Val					RP11-867G2.8_ENST00000536540.1_RNA	p.A480V	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1722	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	480					B2RMS0	Missense_Mutation	SNP	ENST00000358752.2	37	c.1439C>T	CCDS8301.1	.	.	.	.	.	.	.	.	.	.	c	9.868	1.198168	0.22037	.	.	ENSG00000196371	ENST00000358752	T	0.25912	1.77	4.93	2.84	0.33178	.	0.886691	0.09590	U	0.781620	T	0.18635	0.0447	L	0.31804	0.96	0.09310	N	1	B	0.26363	0.147	B	0.23716	0.048	T	0.20505	-1.0273	10	0.29301	T	0.29	.	9.2516	0.37557	0.2434:0.5103:0.2463:0.0	.	480	P22083	FUT4_HUMAN	V	480	ENSP00000351602:A480V	ENSP00000351602:A480V	A	+	2	0	FUT4	93918386	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.387000	0.07361	1.136000	0.42199	0.561000	0.74099	GCG		0.647	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		21	31	0	0	0	1	0	21	31				
IMPACT	55364	broad.mit.edu	37	18	22028078	22028078	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22028078G>T	ENST00000284202.4	+	9	831	c.690G>T	c.(688-690)caG>caT	p.Q230H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	230					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.Q230H(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGATAAACAGACCTTCTTAC	0.353																																						ENST00000284202.4																			1	Substitution - Missense(1)	p.Q230H(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(688-690)caG>caT		impact RWD domain protein							122.0	115.0	117.0					18																	22028078		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22028078G>T	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.690G>T	18.37:g.22028078G>T	ENSP00000284202:p.Gln230His						p.Q230H	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			9	831	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		230					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.690G>T	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903672	0.33628	.	.	ENSG00000154059	ENST00000284202	T	0.31769	1.48	4.38	4.38	0.52667	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.271361	0.36444	N	0.002595	T	0.32133	0.0819	M	0.67625	2.065	0.32150	N	0.58437	B	0.14012	0.009	B	0.16722	0.016	T	0.37220	-0.9715	10	0.45353	T	0.12	.	11.4361	0.50068	0.0:0.0:0.8192:0.1808	.	230	Q9P2X3	IMPCT_HUMAN	H	230	ENSP00000284202:Q230H	ENSP00000284202:Q230H	Q	+	3	2	IMPACT	20282076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.108000	0.41854	2.421000	0.82119	0.655000	0.94253	CAG		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		33	38	1	0	2.32173e-10	1	2.48086e-10	33	38				
MEGF8	1954	broad.mit.edu	37	19	42848911	42848911	+	Missense_Mutation	SNP	G	G	A	rs374100226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42848911G>A	ENST00000251268.6	+	12	2023	c.2023G>A	c.(2023-2025)Gtc>Atc	p.V675I	MEGF8_ENST00000334370.4_Missense_Mutation_p.V675I	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	675					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAGGCCTGCGTCACCCAGAG	0.662																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2023-2025)Gtc>Atc		multiple EGF-like-domains 8		G	ILE/VAL	0,4406		0,0,2203	70.0	69.0	69.0		2023	0.0	1.0	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	MEGF8	NM_001410.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	675/2779	42848911	1,13005	2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848911G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2023G>A	19.37:g.42848911G>A	ENSP00000251268:p.Val675Ile					MEGF8_ENST00000251268.6_Missense_Mutation_p.V675I	p.V675I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2658	+		Prostate(69;0.00682)	725					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2023G>A		.	.	.	.	.	.	.	.	.	.	G	13.51	2.259281	0.39995	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20463	2.07;2.07	4.93	0.0177	0.14113	.	0.382752	0.25175	N	0.032580	T	0.08223	0.0205	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.0;0.007	T	0.19647	-1.0299	10	0.32370	T	0.25	-17.5609	4.7127	0.12880	0.2715:0.2609:0.4675:0.0	.	675;675	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	I	675	ENSP00000334219:V675I;ENSP00000251268:V675I	ENSP00000251268:V675I	V	+	1	0	MEGF8	47540751	0.967000	0.33354	0.955000	0.39395	0.957000	0.61999	1.997000	0.40786	0.152000	0.19188	-0.379000	0.06801	GTC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		35	57	0	0	0	1	0	35	57				
TRAF6	7189	broad.mit.edu	37	11	36516553	36516553	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36516553G>A	ENST00000526995.1	-	5	897	c.651C>T	c.(649-651)taC>taT	p.Y217Y	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Silent_p.Y217Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	217	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TAGTATTGCAGTATTCACAGA	0.269																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(649-651)taC>taT		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							62.0	68.0	66.0					11																	36516553		2201	4285	6486	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36516553G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.651C>T	11.37:g.36516553G>A						TRAF6_ENST00000348124.5_Silent_p.Y217Y|TRAF6_ENST00000529150.1_5'UTR	p.Y217Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			5	897	-	all_lung(20;0.211)	all_hematologic(20;0.107)	217			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.651C>T	CCDS7901.1																																																																																				0.269	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		27	28	0	0	0	1	0	27	28				
SMAD4	4089	broad.mit.edu	37	18	48603092	48603092	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48603092G>A	ENST00000342988.3	+	11	1931	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	SMAD4_ENST00000588745.1_Missense_Mutation_p.V369M|SMAD4_ENST00000398417.2_Missense_Mutation_p.V465M	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	465	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.|Poly-Ala.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGCAGCAGCCGTGGCAGGAAA	0.463																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1393-1395)Gtg>Atg		SMAD family member 4							43.0	44.0	44.0					18																	48603092		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603092G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1393G>A	18.37:g.48603092G>A	ENSP00000341551:p.Val465Met					SMAD4_ENST00000588745.1_Missense_Mutation_p.V369M|SMAD4_ENST00000398417.2_Missense_Mutation_p.V465M	p.V465M	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1931	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	465			MH2.|Poly-Ala.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1393G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222639	0.95139	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97430	-4.38;-4.38	6.03	6.03	0.97812	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.85099	2.735	0.80722	D	1	D	0.60160	0.987	P	0.50754	0.649	D	0.98300	1.0518	10	0.72032	D	0.01	.	19.3283	0.94273	0.0:0.0:1.0:0.0	.	465	Q13485	SMAD4_HUMAN	M	465	ENSP00000341551:V465M;ENSP00000381452:V465M	ENSP00000341551:V465M	V	+	1	0	SMAD4	46857090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.668000	0.98619	2.861000	0.98227	0.655000	0.94253	GTG		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		13	12	0	0	0	1	0	13	12				
FZR1	51343	broad.mit.edu	37	19	3526341	3526341	+	Missense_Mutation	SNP	G	G	A	rs373146649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3526341G>A	ENST00000395095.3	+	4	344	c.344G>A	c.(343-345)cGc>cAc	p.R115H	FZR1_ENST00000313639.8_Missense_Mutation_p.R115H|FZR1_ENST00000441788.2_Missense_Mutation_p.R115H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	115					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGGACCGCAGGCTGCAG	0.682																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(343-345)cGc>cAc		fizzy/cell division cycle 20 related 1 (Drosophila)		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4372		0,0,2186	28.0	29.0	28.0		344,344,344	4.7	0.8	19		28	1,8563		0,1,4281	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	29,29,29	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	115/405,115/497,115/494	3526341	1,12935	2186	4282	6468	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3526341G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.344G>A	19.37:g.3526341G>A	ENSP00000378529:p.Arg115His					FZR1_ENST00000395095.3_Missense_Mutation_p.R115H|FZR1_ENST00000313639.8_Missense_Mutation_p.R115H	p.R115H	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	5	580	+			115					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.344G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364447	0.82463	0.0	1.17E-4	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08546	3.08;3.08;3.08	4.69	4.69	0.59074	.	0.057311	0.64402	D	0.000004	T	0.27900	0.0687	M	0.69823	2.125	0.32485	N	0.540968	B;D;D	0.76494	0.237;0.999;0.998	B;D;D	0.74674	0.023;0.984;0.927	T	0.27468	-1.0073	10	0.51188	T	0.08	-36.6279	16.2306	0.82341	0.0:0.0:1.0:0.0	.	115;115;115	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	115	ENSP00000410369:R115H;ENSP00000378529:R115H;ENSP00000321800:R115H	ENSP00000321800:R115H	R	+	2	0	FZR1	3477341	1.000000	0.71417	0.795000	0.32087	0.401000	0.30781	9.562000	0.98145	2.157000	0.67596	0.561000	0.74099	CGC		0.682	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		3	5	0	0	0	1	0	3	5				
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3661-3663)gcC>gcT		roundabout, axon guidance receptor, homolog 2 (Drosophila)							122.0	122.0	122.0					3																	77671486		1923	4148	6071	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77671486C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3663C>T	3.37:g.77671486C>T						ROBO2_ENST00000332191.8_Silent_p.A1221A|ROBO2_ENST00000487694.3_Silent_p.A1237A	p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	23	4563	+			1221					O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.3663C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.305500	0.01353	.	.	ENSG00000185008	ENST00000475334	.	.	.	5.56	0.436	0.16549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1656	0.03836	0.1058:0.2915:0.1526:0.4501	.	.	.	.	X	53	.	.	R	+	1	2	ROBO2	77754176	0.971000	0.33674	0.854000	0.33618	0.003000	0.03518	-1.082000	0.03400	-0.148000	0.11234	-1.874000	0.00550	CGA		0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	29	0	0	0	1	0	23	29				
CDKL2	8999	broad.mit.edu	37	4	76523296	76523296	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76523296A>G	ENST00000429927.2	-	8	1688	c.985T>C	c.(985-987)Tcc>Ccc	p.S329P	CDKL2_ENST00000307465.4_Missense_Mutation_p.S329P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	329					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCAACTAAGGAATCATCTTTT	0.264																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(985-987)Tcc>Ccc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							38.0	38.0	38.0					4																	76523296		2198	4274	6472	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523296A>G	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.985T>C	4.37:g.76523296A>G	ENSP00000412365:p.Ser329Pro					CDKL2_ENST00000307465.4_Missense_Mutation_p.S329P	p.S329P	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1688	-			329					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.985T>C	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132393	0.37630	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71934	-0.58;-0.61	4.18	2.96	0.34315	.	.	.	.	.	T	0.56819	0.2011	L	0.27053	0.805	0.22996	N	0.998451	B;B	0.29232	0.167;0.238	B;B	0.31245	0.063;0.126	T	0.47509	-0.9112	9	0.38643	T	0.18	-4.0502	8.9175	0.35590	0.8024:0.1976:0.0:0.0	.	329;329	B4DH08;Q92772	.;CDKL2_HUMAN	P	329	ENSP00000412365:S329P;ENSP00000306340:S329P	ENSP00000306340:S329P	S	-	1	0	CDKL2	76742320	0.004000	0.15560	0.974000	0.42286	0.918000	0.54935	0.144000	0.16135	0.723000	0.32274	0.460000	0.39030	TCC		0.264	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		10	30	0	0	0	1	0	10	30				
PLA2G4B	100137049	broad.mit.edu	37	15	42134140	42134140	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42134140G>A	ENST00000452633.1	+	9	966	c.614G>A	c.(613-615)cGc>cAc	p.R205H	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R205H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R436H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTGAGTATTCGCCTGCAGGTA	0.657																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1306-1308)cGc>cAc									37.0	32.0	34.0					15																	42134140		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42134140G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.614G>A	15.37:g.42134140G>A	ENSP00000396045:p.Arg205His					PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R205H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R436H|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R205H	p.R436H	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			13	1316	+			205			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1307G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	3.544	-0.093163	0.07053	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01538	5.1;4.79;5.02;5.02	4.7	2.32	0.28847	.	0.830684	0.10499	N	0.667532	T	0.00875	0.0029	N	0.02296	-0.605	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.49753	-0.8906	10	0.23302	T	0.38	-5.2036	4.0616	0.09841	0.6762:0.0:0.1728:0.151	.	205;436;436	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	436;436;205;205	ENSP00000371886:R436H;ENSP00000342785:R436H;ENSP00000416610:R205H;ENSP00000396045:R205H	ENSP00000342785:R436H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39921432	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.008000	0.12788	-0.032000	0.13758	-0.254000	0.11334	CGC		0.657	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		7	12	0	0	0	1	0	7	12				
HERC1	8925	broad.mit.edu	37	15	63904748	63904748	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63904748G>A	ENST00000443617.2	-	77	14189	c.14102C>T	c.(14101-14103)gCa>gTa	p.A4701V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4701	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCGGACTGCAGCCACCTG	0.602																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14101-14103)gCa>gTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							77.0	76.0	77.0					15																	63904748		2137	4242	6379	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904748G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14102C>T	15.37:g.63904748G>A	ENSP00000390158:p.Ala4701Val						p.A4701V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14189	-			4701			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14102C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496388	0.96355	.	.	ENSG00000103657	ENST00000443617	T	0.62788	0.0	5.38	5.38	0.77491	HECT (4);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	H	0.94620	3.56	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.89508	0.3769	10	0.87932	D	0	.	19.1454	0.93463	0.0:0.0:1.0:0.0	.	4701	Q15751	HERC1_HUMAN	V	4701	ENSP00000390158:A4701V	ENSP00000390158:A4701V	A	-	2	0	HERC1	61691801	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.869000	0.99810	2.515000	0.84797	0.650000	0.86243	GCA		0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		13	25	0	0	0	1	0	13	25				
PRH2	5555	broad.mit.edu	37	12	11083323	11083323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:11083323C>T	ENST00000396400.3	+	3	201	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Nonsense_Mutation_p.Q55*	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	55						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GGGAGGACAGCAATCTCAACC	0.552																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(163-165)Caa>Taa		proline-rich protein HaeIII subfamily 2							118.0	132.0	127.0					12																	11083323		2203	4300	6503	SO:0001587	stop_gained	5555					extracellular space	protein binding	g.chr12:11083323C>T		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.163C>T	12.37:g.11083323C>T	ENSP00000379682:p.Gln55*					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Nonsense_Mutation_p.Q55*	p.Q55*	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	201	+			55					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Nonsense_Mutation	SNP	ENST00000396400.3	37	c.163C>T	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	8.835	0.940802	0.18281	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	.	.	.	1.11	-0.057	0.13803	.	5.267360	0.01632	U	0.023570	.	.	.	.	.	.	0.36559	A	0.872303	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	3.9777	0.09481	0.4127:0.5873:0.0:0.0	.	.	.	.	X	55	.	ENSP00000371271:Q55X	Q	+	1	0	PRH2	10974590	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	1.329000	0.33770	-0.012000	0.14223	0.194000	0.17425	CAA		0.552	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		9	48	0	0	0	1	0	9	48				
FIGN	55137	broad.mit.edu	37	2	164467699	164467699	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:164467699G>A	ENST00000333129.3	-	3	957	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	215	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCAGAGCTATGCAAAGGAGAC	0.527																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(643-645)Cat>Tat		fidgetin							73.0	81.0	79.0					2																	164467699		2051	4200	6251	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467699G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.643C>T	2.37:g.164467699G>A	ENSP00000333836:p.His215Tyr					FIGN_ENST00000409634.1_Intron	p.H215Y	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	957	-			215			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.643C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000811	0.54254	.	.	ENSG00000182263	ENST00000333129	T	0.44881	0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.62723	1.935	0.80722	D	1	D	0.53885	0.963	P	0.49421	0.61	T	0.53301	-0.8458	10	0.59425	D	0.04	-8.5084	20.8794	0.99867	0.0:0.0:1.0:0.0	.	215	Q5HY92	FIGN_HUMAN	Y	215	ENSP00000333836:H215Y	ENSP00000333836:H215Y	H	-	1	0	FIGN	164175945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAT		0.527	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		17	21	0	0	0	1	0	17	21				
AGTPBP1	23287	broad.mit.edu	37	9	88201757	88201757	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88201757G>A	ENST00000357081.3	-	22	3166	c.3022C>T	c.(3022-3024)Cgt>Tgt	p.R1008C	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R968C|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1020C|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1008					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAGGGTAAACGCTTCACTGCA	0.388																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(3022-3024)Cgt>Tgt		ATP/GTP binding protein 1							123.0	112.0	116.0					9																	88201757		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88201757G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3022C>T	9.37:g.88201757G>A	ENSP00000349592:p.Arg1008Cys					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1020C|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R968C|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron	p.R1008C			Q9UPW5	CBPC1_HUMAN			22	3166	-			1008					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3022C>T		.	.	.	.	.	.	.	.	.	.	G	19.39	3.818924	0.71028	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.11821	2.74;2.74;2.74	5.45	5.45	0.79879	Peptidase M14, carboxypeptidase A (1);	0.104660	0.64402	D	0.000007	T	0.36166	0.0957	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.976	D;P;P	0.67900	0.954;0.906;0.526	T	0.02852	-1.1102	10	0.56958	D	0.05	-4.1142	19.2779	0.94039	0.0:0.0:1.0:0.0	.	1020;1008;968	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	C	1008;968;1020	ENSP00000349592:R1008C;ENSP00000365251:R968C;ENSP00000365277:R1020C	ENSP00000349592:R1008C	R	-	1	0	AGTPBP1	87391577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.719000	0.61937	2.553000	0.86117	0.655000	0.94253	CGT		0.388	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	88	0	0	0	1	0	4	88				
C5orf42	65250	broad.mit.edu	37	5	37185146	37185146	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37185146G>A	ENST00000508244.1	-	24	4318	c.4225C>T	c.(4225-4227)Cat>Tat	p.H1409Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.H1409Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.H290Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1409						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGATAGAATGCATGACAACA	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(868-870)Cat>Tat		chromosome 5 open reading frame 42							78.0	76.0	76.0					5																	37185146		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37185146G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4225C>T	5.37:g.37185146G>A	ENSP00000421690:p.His1409Tyr					C5orf42_ENST00000508244.1_Missense_Mutation_p.H1409Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H1409Y	p.H290Y			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		25	4455	-	all_lung(31;0.000616)		1409					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.868C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611581	0.87258	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.98	5.11	0.69529	.	0.292675	0.25458	N	0.030538	T	0.69033	0.3066	N	0.19112	0.55	0.29374	N	0.86382	D;D	0.71674	0.993;0.998	P;P	0.60541	0.835;0.876	T	0.70197	-0.4938	10	0.72032	D	0.01	.	16.8198	0.85743	0.0:0.0:0.8706:0.1294	.	1409;290	E9PH94;Q9H799	.;CE042_HUMAN	Y	1409;1409;290;457;290	ENSP00000421690:H1409Y;ENSP00000389014:H1409Y;ENSP00000274258:H290Y;ENSP00000424223:H457Y	ENSP00000274258:H290Y	H	-	1	0	C5orf42	37220903	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	3.931000	0.56529	1.519000	0.48950	0.591000	0.81541	CAT		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		23	35	0	0	0	1	0	23	35				
MAP1A	4130	broad.mit.edu	37	15	43814556	43814556	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43814556G>A	ENST00000300231.5	+	4	1335	c.885G>A	c.(883-885)acG>acA	p.T295T	MAP1A_ENST00000382031.1_Silent_p.T533T|MAP1A_ENST00000399453.1_Silent_p.T295T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	295					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGTGGCCACGCAGAAGGACC	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(1597-1599)acG>acA		microtubule-associated protein 1A	Estramustine(DB01196)						42.0	44.0	44.0					15																	43814556		1955	4144	6099	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814556G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.885G>A	15.37:g.43814556G>A						MAP1A_ENST00000399453.1_Silent_p.T295T|MAP1A_ENST00000300231.5_Silent_p.T295T	p.T533T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	1630	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	295			9 X 3 AA repeats of K-K-[DE].		O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.1599G>A	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		16	20	0	0	0	1	0	16	20				
NTSR2	23620	broad.mit.edu	37	2	11809657	11809657	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11809657C>T	ENST00000306928.5	-	1	633	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	200					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGCGCGGTGCGGCTCACCAG	0.711																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(598-600)cGc>cAc		neurotensin receptor 2	Levocabastine(DB01106)						11.0	13.0	12.0					2																	11809657		1739	3450	5189	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809657C>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.599G>A	2.37:g.11809657C>T	ENSP00000303686:p.Arg200His						p.R200H	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	633	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		200					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.599G>A	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233110	0.39498	.	.	ENSG00000169006	ENST00000306928	T	0.71579	-0.58	3.51	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.572340	0.14784	N	0.298638	T	0.77123	0.4084	L	0.52759	1.655	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.66284	-0.5962	10	0.46703	T	0.11	-21.7789	11.3201	0.49417	0.0:0.4385:0.5615:0.0	.	200	O95665	NTR2_HUMAN	H	200	ENSP00000303686:R200H	ENSP00000303686:R200H	R	-	2	0	NTSR2	11727108	0.002000	0.14202	0.720000	0.30636	0.340000	0.28889	0.256000	0.18351	0.432000	0.26286	-0.315000	0.08773	CGC		0.711	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			5	9	0	0	0	1	0	5	9				
GPR116	221395	broad.mit.edu	37	6	46830832	46830832	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46830832C>T	ENST00000283296.7	-	15	2280	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	GPR116_ENST00000362015.4_Splice_Site_p.G664G|GPR116_ENST00000456426.2_Splice_Site_p.G522G|GPR116_ENST00000545669.1_Splice_Site_p.G93G|GPR116_ENST00000265417.7_Splice_Site_p.G664G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	664					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGTTTTCCCCTGTGTTGG	0.453																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e15-1		G protein-coupled receptor 116							51.0	48.0	49.0					6																	46830832		2203	4300	6503	SO:0001630	splice_region_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830832C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1991-1G>A	6.37:g.46830832C>T						GPR116_ENST00000545669.1_Splice_Site_p.G93_splice|GPR116_ENST00000265417.7_Splice_Site_p.G664_splice|GPR116_ENST00000456426.2_Splice_Site_p.G522_splice|GPR116_ENST00000362015.4_Splice_Site_p.G664_splice	p.G664_splice	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2280	-			664					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Splice_Site	SNP	ENST00000283296.7	37	c.1990_splice	CCDS4919.1																																																																																				0.453	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	Silent	24	35	0	0	0	1	0	24	35				
MEIS1	4211	broad.mit.edu	37	2	66670093	66670093	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:66670093G>A	ENST00000272369.9	+	6	1000	c.543G>A	c.(541-543)atG>atA	p.M181I	MEIS1_ENST00000398506.2_Missense_Mutation_p.M179I|MEIS1_ENST00000444274.2_Missense_Mutation_p.M149I|MEIS1_ENST00000495021.2_Missense_Mutation_p.M116I|MEIS1_ENST00000560281.2_Missense_Mutation_p.M181I|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.M181I|MEIS1_ENST00000488550.1_Missense_Mutation_p.M181I	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	181					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AAGGGAAAATGCCTATCGATT	0.368																																						ENST00000488550.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(541-543)atG>atA		Meis homeobox 1							204.0	203.0	203.0					2																	66670093		1899	4149	6048	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66670093G>A		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.543G>A	2.37:g.66670093G>A	ENSP00000272369:p.Met181Ile					MEIS1_ENST00000495021.2_Missense_Mutation_p.M116I|MEIS1_ENST00000560281.2_Missense_Mutation_p.M181I|MEIS1_ENST00000444274.2_Missense_Mutation_p.M149I|MEIS1_ENST00000407092.2_Missense_Mutation_p.M181I|MEIS1_ENST00000398506.2_Missense_Mutation_p.M179I|MEIS1_ENST00000272369.9_Missense_Mutation_p.M181I	p.M181I			O00470	MEIS1_HUMAN			6	842	+			181					A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.543G>A	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015927	0.75161	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.73372	2.23	0.80722	D	1	D;D;D;D	0.69078	0.997;0.976;0.98;0.976	D;D;D;D	0.81914	0.995;0.98;0.968;0.98	T	0.58008	-0.7712	10	0.87932	D	0	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	116;179;181;181	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	I	181;181;179;149;116;1;37;37	ENSP00000272369:M181I;ENSP00000384461:M181I;ENSP00000381518:M179I;ENSP00000403206:M149I;ENSP00000440571:M116I;ENSP00000397418:M37I	ENSP00000272369:M181I	M	+	3	0	MEIS1	66523597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	ATG		0.368	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		46	69	0	0	0	1	0	46	69				
WNT9A	7483	broad.mit.edu	37	1	228109686	228109686	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228109686C>T	ENST00000272164.5	-	4	641	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	211					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTGGTCTCCACCCCAGCCTTG	0.662																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(631-633)Gtg>Atg		wingless-type MMTV integration site family, member 9A							39.0	39.0	39.0					1																	228109686		2201	4299	6500	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109686C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.631G>A	1.37:g.228109686C>T	ENSP00000272164:p.Val211Met					WNT9A_ENST00000497852.1_Intron	p.V211M	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	641	-		Prostate(94;0.0405)	211					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.631G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267398	0.40095	.	.	ENSG00000143816	ENST00000272164	T	0.74421	-0.84	5.34	5.34	0.76211	.	0.070239	0.56097	D	0.000023	T	0.55673	0.1935	N	0.02674	-0.535	0.52099	D	0.999947	P	0.42871	0.792	P	0.50537	0.643	T	0.60475	-0.7256	10	0.02654	T	1	.	13.0463	0.58928	0.1608:0.8392:0.0:0.0	.	211	O14904	WNT9A_HUMAN	M	211	ENSP00000272164:V211M	ENSP00000272164:V211M	V	-	1	0	WNT9A	226176309	0.980000	0.34600	0.993000	0.49108	0.776000	0.43924	2.566000	0.45948	2.501000	0.84356	0.491000	0.48974	GTG		0.662	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		23	24	0	0	0	1	0	23	24				
EHF	26298	broad.mit.edu	37	11	34680239	34680239	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:34680239G>T	ENST00000533754.1	+	8	984	c.767G>T	c.(766-768)aGc>aTc	p.S256I	EHF_ENST00000450654.2_Missense_Mutation_p.S233I|EHF_ENST00000530286.1_Missense_Mutation_p.S256I|EHF_ENST00000531794.1_Missense_Mutation_p.S278I|EHF_ENST00000257831.3_Missense_Mutation_p.S256I					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AAGAACAACAGCAGCATGACC	0.448																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(766-768)aGc>aTc		ets homologous factor							89.0	94.0	92.0					11																	34680239		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680239G>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.767G>T	11.37:g.34680239G>T	ENSP00000435837:p.Ser256Ile					EHF_ENST00000533754.1_Missense_Mutation_p.S256I|EHF_ENST00000530286.1_Missense_Mutation_p.S256I|EHF_ENST00000450654.2_Missense_Mutation_p.S233I|EHF_ENST00000531794.1_Missense_Mutation_p.S278I	p.S256I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	888	+		all_hematologic(20;0.117)	256						Missense_Mutation	SNP	ENST00000533754.1	37	c.767G>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591182	0.66219	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.7	4.77	0.60923	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.069044	0.85682	D	0.000000	T	0.30293	0.0760	L	0.47716	1.5	0.80722	D	1	P;D;P	0.71674	0.933;0.998;0.6	P;D;P	0.76575	0.799;0.988;0.551	T	0.02093	-1.1215	10	0.72032	D	0.01	.	13.8511	0.63496	0.0759:0.0:0.9241:0.0	.	278;233;256	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	I	256;233;256;256;278	ENSP00000257831:S256I;ENSP00000399733:S233I;ENSP00000433508:S256I;ENSP00000435837:S256I;ENSP00000435835:S278I	ENSP00000257831:S256I	S	+	2	0	EHF	34636815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.789000	0.62446	1.350000	0.45770	0.561000	0.74099	AGC		0.448	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		13	31	1	0	1.5842e-08	1	1.67426e-08	13	31				
LIMK1	3984	broad.mit.edu	37	7	73511051	73511051	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73511051C>T	ENST00000336180.2	+	3	303	c.252C>T	c.(250-252)tgC>tgT	p.C84C	LIMK1_ENST00000418310.1_Silent_p.C114C|LIMK1_ENST00000538333.3_Silent_p.C50C|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	84	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGAGTCCTGCCATGGGTGCT	0.592																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(340-342)tgC>tgT		LIM domain kinase 1							78.0	75.0	76.0					7																	73511051		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73511051C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.252C>T	7.37:g.73511051C>T						LIMK1_ENST00000538333.3_Silent_p.C50C|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000336180.2_Silent_p.C84C	p.C114C			P53667	LIMK1_HUMAN			3	444	+		Lung NSC(55;0.137)	84			LIM zinc-binding 2.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.342C>T	CCDS5563.1																																																																																				0.592	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		12	26	0	0	0	1	0	12	26				
RPL6	6128	broad.mit.edu	37	12	112844588	112844588	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112844588G>T	ENST00000424576.2	-	4	628	c.443C>A	c.(442-444)aCc>aAc	p.T148N	RPL6_ENST00000202773.9_Missense_Mutation_p.T148N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	148					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GATCAGAATGGTCCCGGGGGT	0.562																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(442-444)aCc>aAc		ribosomal protein L6							43.0	37.0	39.0					12																	112844588		2203	4299	6502	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112844588G>T	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.443C>A	12.37:g.112844588G>T	ENSP00000403172:p.Thr148Asn					RPL6_ENST00000202773.9_Missense_Mutation_p.T148N	p.T148N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			4	628	-			148					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.443C>A	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732162	0.48939	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000550238;ENST00000549847	T;T	0.37915	1.17;1.17	4.96	4.96	0.65561	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	H	0.97265	3.97	0.80722	D	1	B	0.30326	0.276	B	0.30179	0.112	T	0.71027	-0.4711	10	0.62326	D	0.03	.	18.2336	0.89942	0.0:0.0:1.0:0.0	.	148	Q02878	RL6_HUMAN	N	148;148;88;37;148	ENSP00000202773:T148N;ENSP00000403172:T148N	ENSP00000202773:T148N	T	-	2	0	RPL6	111328971	1.000000	0.71417	0.933000	0.37362	0.154000	0.21943	9.247000	0.95444	2.308000	0.77769	0.591000	0.81541	ACC		0.562	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			14	17	1	0	1.5842e-08	1	1.67426e-08	14	17				
MYOM3	127294	broad.mit.edu	37	1	24408513	24408513	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24408513G>T	ENST00000374434.3	-	18	2420	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.P754H|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P753H	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	753	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTGGGGATGGGCTGCTGATT	0.602																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2260-2262)cCc>cAc		myomesin 3							34.0	35.0	35.0					1																	24408513		2042	4168	6210	SO:0001583	missense	127294							g.chr1:24408513G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2258C>A	1.37:g.24408513G>T	ENSP00000363557:p.Pro753His					MYOM3_ENST00000329601.7_Missense_Mutation_p.P753H|MYOM3_ENST00000374434.3_Missense_Mutation_p.P753H|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA	p.P754H			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	18	2423	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	753			Fibronectin type-III 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2261C>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338518	0.60963	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.60299	0.2;0.2;0.2	4.76	1.85	0.25348	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.230128	0.45126	D	0.000395	T	0.76449	0.3989	M	0.90595	3.13	0.36629	D	0.876181	B;D	0.76494	0.186;0.999	B;D	0.72625	0.381;0.978	T	0.80221	-0.1472	10	0.87932	D	0	.	9.6841	0.40087	0.2276:0.0:0.7724:0.0	.	753;753	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	H	753;754;753	ENSP00000363557:P753H;ENSP00000332670:P754H;ENSP00000328415:P753H	ENSP00000328415:P753H	P	-	2	0	MYOM3	24281100	1.000000	0.71417	0.386000	0.26170	0.926000	0.56050	4.280000	0.58959	0.184000	0.20083	0.467000	0.42956	CCC		0.602	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	6	1	0	0.00198382	1	0.0020125	7	6				
ZFP90	146198	broad.mit.edu	37	16	68598186	68598186	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68598186G>A	ENST00000570495.1	+	5	1788	c.1496G>A	c.(1495-1497)tGt>tAt	p.C499Y	ZFP90_ENST00000398253.2_Missense_Mutation_p.C499Y|ZFP90_ENST00000563169.2_Missense_Mutation_p.C499Y			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	499					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCCTATCAATGTAATGTATGT	0.413																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1495-1497)tGt>tAt		ZFP90 zinc finger protein							82.0	86.0	85.0					16																	68598186		2157	4280	6437	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598186G>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1496G>A	16.37:g.68598186G>A	ENSP00000460547:p.Cys499Tyr					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.C499Y|ZFP90_ENST00000398253.2_Missense_Mutation_p.C499Y	p.C499Y			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1788	+		Ovarian(137;0.192)	499					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1496G>A	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770557	0.69992	.	.	ENSG00000184939	ENST00000398253	D	0.85088	-1.94	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94968	0.8372	H	0.95224	3.64	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	D	0.95694	0.8743	9	0.87932	D	0	-7.3401	18.0364	0.89305	0.0:0.0:1.0:0.0	.	499	Q8TF47	ZFP90_HUMAN	Y	499	ENSP00000381304:C499Y	ENSP00000381304:C499Y	C	+	2	0	ZFP90	67155687	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.730000	0.98797	2.941000	0.99782	0.655000	0.94253	TGT		0.413	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		27	54	0	0	0	1	0	27	54				
SYNE1	23345	broad.mit.edu	37	6	152774700	152774700	+	Intron	SNP	C	C	A	rs372469033		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152774700C>A	ENST00000367255.5	-	25	3629				SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000495090.2_Missense_Mutation_p.E583D|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGTGTCTCCGTCCTGT	0.483										HNSCC(10;0.0054)																												ENST00000495090.2																			0				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						c.(1747-1749)gaG>gaT		spectrin repeat containing, nuclear envelope 1							146.0	142.0	143.0					6																	152774700		2203	4300	6503	SO:0001627	intron_variant	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.chr6:152774700C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3027+20G>T	6.37:g.152774700C>A		HNSCC(10;0.0054)				SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Intron	p.E583D			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	12	1757	-		Ovarian(120;0.0955)	3592					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.1749G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782225	0.49891	.	.	ENSG00000131018	ENST00000495090	T	0.18657	2.2	5.68	-11.4	0.00090	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	8	0.27785	T	0.31	.	2.0715	0.03614	0.427:0.2984:0.0999:0.1747	.	583	F5H422	.	D	583	ENSP00000438508:E583D	ENSP00000438508:E583D	E	-	3	2	SYNE1	152816393	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.376000	0.07465	-1.892000	0.01108	0.655000	0.94253	GAG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	127	1	0	5.01169e-05	1	5.15048e-05	14	127				
SLITRK1	114798	broad.mit.edu	37	13	84453636	84453636	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:84453636G>C	ENST00000377084.2	-	1	2892	c.2007C>G	c.(2005-2007)gaC>gaG	p.D669E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	669					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTAGGAAGAGTCACAGACTG	0.537																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2005-2007)gaC>gaG		SLIT and NTRK-like family, member 1							71.0	65.0	67.0					13																	84453636		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453636G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.2007C>G	13.37:g.84453636G>C	ENSP00000366288:p.Asp669Glu						p.D669E	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2892	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	669					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.2007C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319336	0.60524	.	.	ENSG00000178235	ENST00000377084	T	0.57107	0.42	4.98	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.08118	0	0.45239	D	0.998244	B	0.24882	0.113	B	0.22601	0.04	T	0.09862	-1.0655	10	0.31617	T	0.26	-18.3578	9.0373	0.36296	0.166:0.0:0.834:0.0	.	669	Q96PX8	SLIK1_HUMAN	E	669	ENSP00000366288:D669E	ENSP00000366288:D669E	D	-	3	2	SLITRK1	83351637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.889000	0.28282	2.756000	0.94617	0.655000	0.94253	GAC		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		4	11	0	0	0	1	0	4	11				
ANO9	338440	broad.mit.edu	37	11	420840	420840	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:420840C>T	ENST00000332826.6	-	18	1595	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	504					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGCAGAGAGCGGCACTTGTG	0.741																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1510-1512)cGc>cAc		anoctamin 9							15.0	17.0	16.0					11																	420840		2178	4257	6435	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420840C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1511G>A	11.37:g.420840C>T	ENSP00000332788:p.Arg504His						p.R504H	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			18	1595	-			504					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1511G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767891	0.31320	.	.	ENSG00000185101	ENST00000332826	T	0.67345	-0.26	3.24	1.17	0.20885	.	0.632498	0.13971	U	0.350189	T	0.56262	0.1973	L	0.57130	1.785	0.09310	N	1	B;B	0.26147	0.143;0.081	B;B	0.19148	0.017;0.024	T	0.50575	-0.8812	10	0.56958	D	0.05	.	5.2195	0.15362	0.1637:0.6452:0.0:0.191	.	205;504	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	H	504	ENSP00000332788:R504H	ENSP00000332788:R504H	R	-	2	0	ANO9	410840	0.534000	0.26362	0.001000	0.08648	0.013000	0.08279	0.908000	0.28545	0.156000	0.19299	0.306000	0.20318	CGC		0.741	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		4	5	0	0	0	1	0	4	5				
MYBPC3	4607	broad.mit.edu	37	11	47353711	47353711	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47353711C>T	ENST00000545968.1	-	33	3780	c.3726G>A	c.(3724-3726)aaG>aaA	p.K1242K	MYBPC3_ENST00000399249.2_Silent_p.K1242K|MYBPC3_ENST00000256993.4_Silent_p.K1241K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1242	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGGGGCAGGGCTTTCTAATCT	0.597																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(3724-3726)aaG>aaA		myosin binding protein C, cardiac							66.0	70.0	69.0					11																	47353711		1970	4154	6124	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47353711C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3726G>A	11.37:g.47353711C>T						MYBPC3_ENST00000256993.4_Silent_p.K1241K|MYBPC3_ENST00000399249.2_Silent_p.K1242K	p.K1242K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	33	3780	-			1241			Ig-like C2-type 7.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.3726G>A	CCDS53621.1																																																																																				0.597	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			29	39	0	0	0	1	0	29	39				
AHNAK2	113146	broad.mit.edu	37	14	105412499	105412499	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105412499C>T	ENST00000333244.5	-	7	9408	c.9289G>A	c.(9289-9291)Gtg>Atg	p.V3097M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3097						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGCCGTCACGTCCGTCTTC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9289-9291)Gtg>Atg		AHNAK nucleoprotein 2							114.0	110.0	111.0					14																	105412499		1911	4097	6008	SO:0001583	missense	113146					nucleus		g.chr14:105412499C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9289G>A	14.37:g.105412499C>T	ENSP00000353114:p.Val3097Met					AHNAK2_ENST00000557457.1_Intron	p.V3097M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9408	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3097					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9289G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.542	1.113657	0.20795	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	3.5	1.51	0.23008	.	.	.	.	.	T	0.05410	0.0143	M	0.86178	2.8	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.24870	-1.0148	9	0.37606	T	0.19	.	6.5663	0.22513	0.0:0.3944:0.4356:0.1701	.	3097	Q8IVF2	AHNK2_HUMAN	M	3097	ENSP00000353114:V3097M	ENSP00000353114:V3097M	V	-	1	0	AHNAK2	104483544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.748000	0.04818	0.083000	0.17047	0.313000	0.20887	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		83	80	0	0	0	1	0	83	80				
IDS	3423	broad.mit.edu	37	X	148585690	148585690	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:148585690C>T	ENST00000340855.6	-	2	446	c.237G>A	c.(235-237)gcG>gcA	p.A79A	IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Silent_p.A79A|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000370443.4_Silent_p.A79A|IDS_ENST00000428056.2_Silent_p.A79A|IDS_ENST00000490775.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form). {ECO:0000269|PubMed:9921913}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACATACCTGCGCAAAGGCAT	0.572																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(235-237)gcG>gcA		iduronate 2-sulfatase							57.0	44.0	48.0					X																	148585690		2203	4297	6500	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148585690C>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.237G>A	X.37:g.148585690C>T						IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Silent_p.A79A|IDS_ENST00000370443.4_Silent_p.A79A|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.A79A	p.A79A	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			2	446	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		79		A -> E (in MPS2; mild form).			D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.237G>A	CCDS14685.1																																																																																				0.572	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			4	3	0	0	0	1	0	4	3				
INPP5J	27124	broad.mit.edu	37	22	31520898	31520898	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31520898C>T	ENST00000331075.5	+	2	222	c.173C>T	c.(172-174)gCt>gTt	p.A58V	INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000400294.2_Intron|INPP5J_ENST00000404390.3_Intron	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	58					inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCAAGGTTGGCTCTGGCACCT	0.577																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(172-174)gCt>gTt		inositol polyphosphate-5-phosphatase J							39.0	41.0	40.0					22																	31520898		1982	4154	6136	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31520898C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.173C>T	22.37:g.31520898C>T	ENSP00000333262:p.Ala58Val					INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_5'UTR|INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000400294.2_Intron	p.A58V			Q15735	PI5PA_HUMAN			2	222	+			58					B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.173C>T		.	.	.	.	.	.	.	.	.	.	C	17.15	3.315193	0.60524	.	.	ENSG00000185133	ENST00000331075	D	0.98150	-4.75	4.22	4.22	0.49857	.	0.494583	0.17291	N	0.179631	D	0.94178	0.8132	.	.	.	0.80722	D	1	B	0.33826	0.427	B	0.29176	0.099	D	0.92694	0.6169	8	.	.	.	.	12.2888	0.54807	0.0:1.0:0.0:0.0	.	58	Q15735	PI5PA_HUMAN	V	58	ENSP00000333262:A58V	.	A	+	2	0	INPP5J	29850898	0.995000	0.38212	0.985000	0.45067	0.944000	0.59088	2.322000	0.43814	2.386000	0.81285	0.561000	0.74099	GCT		0.577	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		7	5	0	0	0	1	0	7	5				
PSMG3	84262	broad.mit.edu	37	7	1608765	1608765	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1608765C>T	ENST00000288607.2	-	1	864	c.211G>A	c.(211-213)Gat>Aat	p.D71N	PSMG3_ENST00000404674.3_Missense_Mutation_p.D71N|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000252329.3_Missense_Mutation_p.D71N	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	71										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TTTACCTCATCCTGCCCCAGA	0.592																																						ENST00000288607.2																			0				lung(2)	2						c.(211-213)Gat>Aat		proteasome (prosome, macropain) assembly chaperone 3							69.0	69.0	69.0					7																	1608765		2203	4299	6502	SO:0001583	missense	84262							g.chr7:1608765C>T	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.211G>A	7.37:g.1608765C>T	ENSP00000288607:p.Asp71Asn					PSMG3_ENST00000404674.3_Missense_Mutation_p.D71N|PSMG3_ENST00000252329.3_Missense_Mutation_p.D71N	p.D71N	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	864	-		Ovarian(82;0.11)	71					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.211G>A	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896608	0.91962	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.77406	2.37	0.58432	D	0.999998	D	0.60575	0.988	P	0.57502	0.822	T	0.80710	-0.1261	9	0.66056	D	0.02	-16.3669	18.3837	0.90459	0.0:1.0:0.0:0.0	.	71	Q9BT73	PSMG3_HUMAN	N	71	.	ENSP00000252329:D71N	D	-	1	0	PSMG3	1575291	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.044000	0.76578	2.325000	0.78763	0.563000	0.77884	GAT		0.592	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		21	33	0	0	0	1	0	21	33				
LEMD1	93273	broad.mit.edu	37	1	205388421	205388421	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205388421C>T	ENST00000367153.4	-	3	244	c.142G>A	c.(142-144)Gca>Aca	p.A48T	LEMD1_ENST00000367154.1_Missense_Mutation_p.A48T|LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000367149.3_Intron|LEMD1_ENST00000391936.2_Missense_Mutation_p.A48T|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000367152.1_Intron	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	48						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ACAGGTGGTGCACAGGGAGGT	0.453																																						ENST00000367153.4																			0				breast(1)|lung(2)	3						c.(142-144)Gca>Aca		LEM domain containing 1							154.0	145.0	148.0					1																	205388421		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205388421C>T		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.142G>A	1.37:g.205388421C>T	ENSP00000356121:p.Ala48Thr					LEMD1_ENST00000367149.3_Intron|LEMD1_ENST00000367151.2_Intron|LEMD1_ENST00000476884.1_Intron|LEMD1_ENST00000391936.2_Missense_Mutation_p.A48T|LEMD1_ENST00000367154.1_Missense_Mutation_p.A48T|LEMD1_ENST00000367152.1_Intron	p.A48T	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		3	244	-	Breast(84;0.247)		48					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.142G>A	CCDS55679.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763471	0.31228	.	.	ENSG00000186007	ENST00000367153;ENST00000367154;ENST00000391936	T;T;T	0.42513	0.97;0.97;0.97	5.65	0.31	0.15825	LEM-like domain (1);	1.097100	0.06854	N	0.797776	T	0.26629	0.0651	L	0.29908	0.895	0.09310	N	1	B;B	0.29270	0.24;0.16	B;B	0.27608	0.081;0.037	T	0.24297	-1.0164	10	0.20046	T	0.44	-1.8976	4.5658	0.12186	0.0:0.5039:0.1528:0.3433	.	48;48	Q68G75;Q68G75-5	LEMD1_HUMAN;.	T	48	ENSP00000356121:A48T;ENSP00000356122:A48T;ENSP00000375801:A48T	ENSP00000356121:A48T	A	-	1	0	LEMD1	203655044	0.000000	0.05858	0.008000	0.14137	0.027000	0.11550	-0.745000	0.04834	0.410000	0.25675	0.563000	0.77884	GCA		0.453	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		46	35	0	0	0	1	0	46	35				
KRT36	8689	broad.mit.edu	37	17	39644629	39644629	+	Missense_Mutation	SNP	G	G	A	rs536480686	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39644629G>A	ENST00000328119.6	-	3	564	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	KRT36_ENST00000393986.2_Missense_Mutation_p.R139W	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	189	Coil 1B.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTAGCTGCCGCAGAGACAGC	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.0031					ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(415-417)Cgg>Tgg		keratin 36							66.0	60.0	62.0					17																	39644629		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39644629G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.565C>T	17.37:g.39644629G>A	ENSP00000329165:p.Arg189Trp					KRT36_ENST00000328119.6_Missense_Mutation_p.R189W	p.R139W			O76013	KRT36_HUMAN			4	627	-		Breast(137;0.000286)	189			Linker 1.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.415C>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661523	0.67700	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.92099	-2.97;-2.97	5.84	2.63	0.31362	Filament (1);	0.000000	0.47455	D	0.000234	D	0.97898	0.9309	H	0.99525	4.61	0.39590	D	0.969577	D	0.89917	1.0	D	0.91635	0.999	D	0.99243	1.0885	10	0.87932	D	0	.	15.6135	0.76748	0.0:0.0:0.6232:0.3768	.	189	O76013	KRT36_HUMAN	W	139;189	ENSP00000377555:R139W;ENSP00000329165:R189W	ENSP00000329165:R189W	R	-	1	2	KRT36	36898155	1.000000	0.71417	0.968000	0.41197	0.630000	0.37929	2.653000	0.46691	0.317000	0.23160	-0.261000	0.10672	CGG		0.597	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		21	28	0	0	0	1	0	21	28				
LYSMD4	145748	broad.mit.edu	37	15	100269761	100269761	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:100269761T>G	ENST00000409796.1	-	3	520	c.458A>C	c.(457-459)gAc>gCc	p.D153A	LYSMD4_ENST00000332728.4_Missense_Mutation_p.D153A|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_Missense_Mutation_p.D27A|LYSMD4_ENST00000344791.2_Missense_Mutation_p.D154A	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	153						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GCCTGCTCTGTCTGCCTCTGG	0.562																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(79-81)gAc>gCc		LysM, putative peptidoglycan-binding, domain containing 4							69.0	69.0	69.0					15																	100269761		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269761T>G	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.458A>C	15.37:g.100269761T>G	ENSP00000386283:p.Asp153Ala					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D153A|LYSMD4_ENST00000344791.2_Missense_Mutation_p.D154A|LYSMD4_ENST00000409796.1_Missense_Mutation_p.D153A	p.D27A			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	894	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		153					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.80A>C		.	.	.	.	.	.	.	.	.	.	T	4.108	0.018164	0.07959	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.83	3.71	0.42584	.	0.363024	0.29964	N	0.010756	T	0.19604	0.0471	L	0.57536	1.79	0.09310	N	0.999998	P;P	0.51933	0.949;0.763	B;B	0.39805	0.31;0.242	T	0.10776	-1.0615	10	0.35671	T	0.21	-31.9851	10.4225	0.44359	0.0:0.0777:0.0:0.9223	.	154;153	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	A	153;154;153;27	ENSP00000386283:D153A;ENSP00000342840:D154A;ENSP00000333008:D153A;ENSP00000445357:D27A	ENSP00000333008:D153A	D	-	2	0	LYSMD4	98087284	0.009000	0.17119	0.004000	0.12327	0.024000	0.10985	1.076000	0.30729	0.798000	0.33994	0.533000	0.62120	GAC		0.562	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		49	52	0	0	0	1	0	49	52				
ASH1L	55870	broad.mit.edu	37	1	155313529	155313529	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155313529G>A	ENST00000368346.3	-	23	8640	c.8001C>T	c.(7999-8001)gaC>gaT	p.D2667D	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Silent_p.D2662D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2667	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GATACACACAGTCACCTAGGA	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7999-8001)gaC>gaT		ash1 (absent, small, or homeotic)-like (Drosophila)							56.0	55.0	55.0					1																	155313529		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313529G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8001C>T	1.37:g.155313529G>A						ASH1L_ENST00000392403.3_Silent_p.D2662D	p.D2667D			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		23	8640	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2667			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.8001C>T																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		16	26	0	0	0	1	0	16	26				
NRIP2	83714	broad.mit.edu	37	12	2936421	2936421	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2936421C>T	ENST00000337508.4	-	6	838	c.798G>A	c.(796-798)ccG>ccA	p.P266P	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	266					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCTGAGAACGGGGCTTTCA	0.612																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(796-798)ccG>ccA		nuclear receptor interacting protein 2							75.0	63.0	67.0					12																	2936421		2203	4300	6503	SO:0001819	synonymous_variant	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2936421C>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.798G>A	12.37:g.2936421C>T						ITFG2_ENST00000542548.1_Intron	p.P266P	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	838	-			266					A2RRE3|B4DV61	Silent	SNP	ENST00000337508.4	37	c.798G>A	CCDS8514.1																																																																																				0.612	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		7	12	0	0	0	1	0	7	12				
CDCA5	113130	broad.mit.edu	37	11	64847156	64847156	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64847156G>T	ENST00000275517.3	-	5	519	c.347C>A	c.(346-348)cCt>cAt	p.P116H	CDCA5_ENST00000404147.3_Missense_Mutation_p.P116H	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	116					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTTCGGCACAGGAGTGCTGGT	0.567																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(346-348)cCt>cAt		cell division cycle associated 5							17.0	17.0	17.0					11																	64847156		2200	4297	6497	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847156G>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.347C>A	11.37:g.64847156G>T	ENSP00000275517:p.Pro116His					CDCA5_ENST00000404147.3_Missense_Mutation_p.P116H	p.P116H	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	519	-			116					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.347C>A	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660757	0.67700	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68317	2.08	0.29994	N	0.816585	D	0.89917	1.0	D	0.91635	0.999	T	0.66767	-0.5840	10	0.87932	D	0	.	14.4391	0.67303	0.0:0.0:1.0:0.0	.	116	Q96FF9	CDCA5_HUMAN	H	116	ENSP00000275517:P116H;ENSP00000385711:P116H	ENSP00000275517:P116H	P	-	2	0	CDCA5	64603732	0.583000	0.26757	0.278000	0.24718	0.036000	0.12997	2.791000	0.47829	2.533000	0.85409	0.637000	0.83480	CCT		0.567	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		7	8	1	0	0.000274275	1	0.000279654	7	8				
USP34	9736	broad.mit.edu	37	2	61463362	61463362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61463362C>T	ENST00000398571.2	-	55	6928	c.6852G>A	c.(6850-6852)tgG>tgA	p.W2284*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2284					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.W2284C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACACAATTGCCACATAAATC	0.269																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.W2284C(1)	lung(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(6850-6852)tgG>tgA		ubiquitin specific peptidase 34							39.0	36.0	37.0					2																	61463362		1798	4034	5832	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61463362C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6852G>A	2.37:g.61463362C>T	ENSP00000381577:p.Trp2284*						p.W2284*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		55	6928	-			2284					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.6852G>A	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.912756|4.912756	0.92178|0.92178	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48187|.	0.1486|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37641|.	-0.9697|.	3|.	.|0.02654	.|T	.|1	.|.	19.8751|19.8751	0.96867|0.96867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	44|2132;2132;2284;562	.|.	.|ENSP00000263989:W2132X	A|W	-|-	1|3	0|0	USP34|USP34	61316866|61316866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.269	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	45	0	0	0	1	0	21	45				
PDE3B	5140	broad.mit.edu	37	11	14665692	14665692	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14665692C>T	ENST00000282096.4	+	1	424	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.P24L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	24	Interaction with RAPGEF3.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGCTCGCCCCCCGAGAGTCTG	0.697																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(70-72)cCc>cTc		phosphodiesterase 3B, cGMP-inhibited							8.0	9.0	9.0					11																	14665692		1899	3852	5751	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14665692C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.71C>T	11.37:g.14665692C>T	ENSP00000282096:p.Pro24Leu					PDE3B_ENST00000455098.2_Missense_Mutation_p.P24L	p.P24L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			1	424	+			24					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.71C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270528	0.40194	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.61274	0.15;0.12	3.36	1.2	0.21068	.	1.219970	0.06335	U	0.706836	T	0.32526	0.0832	N	0.19112	0.55	0.37247	D	0.906386	B;P;P	0.39480	0.006;0.675;0.675	B;B;B	0.25759	0.002;0.063;0.063	T	0.42932	-0.9422	10	0.59425	D	0.04	.	1.4222	0.02314	0.166:0.4476:0.1632:0.2232	.	24;24;24	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	L	24	ENSP00000282096:P24L;ENSP00000388644:P24L	ENSP00000282096:P24L	P	+	2	0	PDE3B	14622268	0.993000	0.37304	1.000000	0.80357	0.683000	0.39861	1.701000	0.37825	0.532000	0.28657	0.313000	0.20887	CCC		0.697	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		5	4	0	0	0	1	0	5	4				
VARS	7407	broad.mit.edu	37	6	31759732	31759732	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31759732C>T	ENST00000375663.3	-	7	1328	c.888G>A	c.(886-888)atG>atA	p.M296I	VARS_ENST00000444930.2_Start_Codon_SNP_p.M1I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	296					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGAGTCGGGCATGGGGCCAC	0.627																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(886-888)atG>atA		valyl-tRNA synthetase	L-Valine(DB00161)						25.0	20.0	22.0					6																	31759732		1509	2709	4218	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759732C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.888G>A	6.37:g.31759732C>T	ENSP00000364815:p.Met296Ile					VARS_ENST00000444930.2_Start_Codon_SNP_p.M1I	p.M296I	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			7	1328	-			296					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.888G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752504	0.49362	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.22336	1.96;1.96	5.42	5.42	0.78866	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.053482	0.85682	D	0.000000	T	0.13030	0.0316	L	0.48642	1.525	0.80722	D	1	B	0.18968	0.032	B	0.17433	0.018	T	0.02053	-1.1222	10	0.62326	D	0.03	-20.3522	16.7853	0.85573	0.0:1.0:0.0:0.0	.	296	P26640	SYVC_HUMAN	I	296;1	ENSP00000364815:M296I;ENSP00000398317:M1I	ENSP00000364815:M296I	M	-	3	0	VARS	31867711	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.175000	0.50855	2.574000	0.86865	0.461000	0.40582	ATG		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		4	7	0	0	0	1	0	4	7				
COL5A2	1290	broad.mit.edu	37	2	189940164	189940164	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189940164C>A	ENST00000374866.3	-	17	1334		c.e17-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTCGTTGTCCCTAATTAAGAG	0.299																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.e17-1		collagen, type V, alpha 2							73.0	78.0	76.0					2																	189940164		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189940164C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1060-1G>T	2.37:g.189940164C>A								NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		17	1334	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37		CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372583	0.82573	.	.	ENSG00000204262	ENST00000374866	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.013	0.89230	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189648409	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.320000	0.72876	2.573000	0.86826	0.585000	0.79938	.		0.299	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	15	55	1	0	3.41278e-10	1	3.64137e-10	15	55				
TECTA	7007	broad.mit.edu	37	11	120996472	120996472	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120996472C>T	ENST00000392793.1	+	8	1936	c.1665C>T	c.(1663-1665)tgC>tgT	p.C555C	TECTA_ENST00000264037.2_Silent_p.C555C			O75443	TECTA_HUMAN	tectorin alpha	555					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGACCTGTGCAGTGTGAGGG	0.577																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1663-1665)tgC>tgT		tectorin alpha							109.0	101.0	104.0					11																	120996472		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996472C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1665C>T	11.37:g.120996472C>T						TECTA_ENST00000264037.2_Silent_p.C555C	p.C555C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1936	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	555						Silent	SNP	ENST00000392793.1	37	c.1665C>T	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		32	45	0	0	0	1	0	32	45				
PSD2	84249	broad.mit.edu	37	5	139216755	139216755	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139216755C>A	ENST00000274710.3	+	11	1802	c.1597C>A	c.(1597-1599)Ccc>Acc	p.P533T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCCAGCGCCCCGTGGGAG	0.592																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1597-1599)Ccc>Acc		pleckstrin and Sec7 domain containing 2							71.0	78.0	75.0					5																	139216755		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216755C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1597C>A	5.37:g.139216755C>A	ENSP00000274710:p.Pro533Thr						p.P533T	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1802	+			533			PH.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1597C>A	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082794	0.76528	.	.	ENSG00000146005	ENST00000274710	T	0.78816	-1.21	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86992	0.2111	10	0.87932	D	0	.	18.9015	0.92444	0.0:1.0:0.0:0.0	.	533	Q9BQI7	PSD2_HUMAN	T	533	ENSP00000274710:P533T	ENSP00000274710:P533T	P	+	1	0	PSD2	139196939	1.000000	0.71417	0.952000	0.39060	0.554000	0.35429	7.786000	0.85741	2.477000	0.83638	0.484000	0.47621	CCC		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		25	50	1	0	1.2476e-16	1	1.37101e-16	25	50				
GLT8D2	83468	broad.mit.edu	37	12	104390558	104390558	+	Silent	SNP	G	G	A	rs199878047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104390558G>A	ENST00000360814.4	-	8	960	c.555C>T	c.(553-555)tgC>tgT	p.C185C	GLT8D2_ENST00000546436.1_Silent_p.C185C|GLT8D2_ENST00000548660.1_Silent_p.C185C	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	185						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGGCAAATCGCAGTCATCTG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19441	0.001		0.0	False		,,,				2504	0.0					ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(553-555)tgC>tgT		glycosyltransferase 8 domain containing 2							109.0	110.0	110.0					12																	104390558		2203	4300	6503	SO:0001819	synonymous_variant	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390558G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.555C>T	12.37:g.104390558G>A						GLT8D2_ENST00000548660.1_Silent_p.C185C|GLT8D2_ENST00000546436.1_Silent_p.C185C	p.C185C	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			8	960	-			185					Q96KA2	Silent	SNP	ENST00000360814.4	37	c.555C>T	CCDS9096.1																																																																																				0.502	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		25	21	0	0	0	1	0	25	21				
WBP2NL	164684	broad.mit.edu	37	22	42423111	42423111	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42423111G>A	ENST00000328823.9	+	6	887	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	WBP2NL_ENST00000543212.1_Missense_Mutation_p.E212K	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	286					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGGCCTCAGGAATCTACAGC	0.562																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(856-858)Gaa>Aaa		WBP2 N-terminal like							73.0	83.0	80.0					22																	42423111		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423111G>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.856G>A	22.37:g.42423111G>A	ENSP00000332983:p.Glu286Lys					WBP2NL_ENST00000543212.1_Missense_Mutation_p.E212K	p.E286K	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	887	+			286					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.856G>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038369	0.19669	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.22743	2.27;1.94	3.89	0.344	0.16006	.	.	.	.	.	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.40117	-0.9580	9	0.06099	T	0.92	.	7.7397	0.28835	0.2269:0.0:0.7731:0.0	.	286	Q6ICG8	WBP2L_HUMAN	K	286;212	ENSP00000332983:E286K;ENSP00000442447:E212K	ENSP00000332983:E286K	E	+	1	0	WBP2NL	40753057	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.760000	0.01806	0.046000	0.15833	0.580000	0.79431	GAA		0.562	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		34	54	0	0	0	1	0	34	54				
SLC45A4	57210	broad.mit.edu	37	8	142231719	142231719	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142231719G>A	ENST00000024061.3	-	2	541	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SLC45A4_ENST00000433583.2_Silent_p.G71G|SLC45A4_ENST00000517878.1_Silent_p.G129G|SLC45A4_ENST00000519067.1_Silent_p.G78G	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAAAGAGGACGCCAACGCAGA	0.622																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(232-234)ggC>ggT		solute carrier family 45, member 4							73.0	81.0	78.0					8																	142231719		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231719G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.234C>T	8.37:g.142231719G>A						SLC45A4_ENST00000433583.2_Silent_p.G71G|SLC45A4_ENST00000024061.3_Silent_p.G78G|SLC45A4_ENST00000517878.1_Silent_p.G129G	p.G78G			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	537	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		129					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.234C>T	CCDS34948.1																																																																																				0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		27	37	0	0	0	1	0	27	37				
CLSTN2	64084	broad.mit.edu	37	3	140265510	140265510	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:140265510G>A	ENST00000458420.3	+	10	1851	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	554					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAAGCCTTGGCCAAGGAATA	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1660-1662)gGc>gAc		calsyntenin 2							39.0	36.0	37.0					3																	140265510		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140265510G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1661G>A	3.37:g.140265510G>A	ENSP00000402460:p.Gly554Asp	HNSCC(16;0.037)					p.G554D	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			10	1851	+			554					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1661G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189896	0.38707	.	.	ENSG00000158258	ENST00000458420	T	0.39997	1.05	5.21	5.21	0.72293	.	0.100072	0.64402	D	0.000002	T	0.45337	0.1337	M	0.75264	2.295	0.48236	D	0.999618	B	0.21753	0.06	B	0.17433	0.018	T	0.37663	-0.9696	9	.	.	.	-2.1772	16.2435	0.82429	0.0:0.0:1.0:0.0	.	554	Q9H4D0	CSTN2_HUMAN	D	554	ENSP00000402460:G554D	.	G	+	2	0	CLSTN2	141748200	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.074000	0.57577	2.420000	0.82092	0.455000	0.32223	GGC		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		9	12	0	0	0	1	0	9	12				
EFR3A	23167	broad.mit.edu	37	8	132991264	132991264	+	Silent	SNP	C	C	T	rs141932899		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132991264C>T	ENST00000254624.5	+	13	1722	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	EFR3A_ENST00000334503.4_Silent_p.I499I|EFR3A_ENST00000519656.1_Silent_p.I463I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	499						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCGAGGGATCAGGTAATGTG	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18128	0.0		0.0	False		,,,				2504	0.0					ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1495-1497)atC>atT		EFR3 homolog A (S. cerevisiae)		C		1,4405	2.1+/-5.4	0,1,2202	144.0	138.0	140.0		1497	5.7	1.0	8	dbSNP_134	140	0,8598		0,0,4299	no	coding-synonymous	EFR3A	NM_015137.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		499/822	132991264	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132991264C>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1497C>T	8.37:g.132991264C>T						EFR3A_ENST00000334503.4_Silent_p.I499I|EFR3A_ENST00000519656.1_Silent_p.I463I	p.I499I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		13	1722	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		499					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.1497C>T	CCDS34942.2																																																																																				0.358	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		19	29	0	0	0	1	0	19	29				
LRRTM2	26045	broad.mit.edu	37	5	138209844	138209844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138209844G>A	ENST00000274711.6	-	2	784	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000518785.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	136					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCAAATTTTGCAGGTTAATC	0.388																																						ENST00000274711.6																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(406-408)Caa>Taa		leucine rich repeat transmembrane neuronal 2							57.0	58.0	58.0					5																	138209844		1848	4092	5940	SO:0001587	stop_gained	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209844G>A	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.406C>T	5.37:g.138209844G>A	ENSP00000274711:p.Gln136*					CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron	p.Q136*	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	784	-			136					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Nonsense_Mutation	SNP	ENST00000274711.6	37	c.406C>T	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	G	36	5.949931	0.97139	.	.	ENSG00000146006	ENST00000274711	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.1682	0.93565	0.0:0.0:1.0:0.0	.	.	.	.	X	136	.	ENSP00000274711:Q136X	Q	-	1	0	LRRTM2	138237743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.631000	0.98424	2.865000	0.98341	0.655000	0.94253	CAA		0.388	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			3	9	0	0	0	1	0	3	9				
KIF2B	84643	broad.mit.edu	37	17	51901789	51901789	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51901789G>A	ENST00000268919.4	+	1	1551	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	465	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAAAAGGCAGCTGGAAGGGG	0.493																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1393-1395)caG>caA		kinesin family member 2B							47.0	44.0	45.0					17																	51901789		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901789G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1395G>A	17.37:g.51901789G>A							p.Q465Q	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1551	+			465			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1395G>A	CCDS32685.1																																																																																				0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	17	0	0	0	1	0	13	17				
INSR	3643	broad.mit.edu	37	19	7125510	7125510	+	Silent	SNP	G	G	A	rs369686949		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7125510G>A	ENST00000302850.5	-	17	3184	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	INSR_ENST00000341500.5_Silent_p.D1002D	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1014					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTCCCACTCGTCCGGCACGT	0.567																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3004-3006)gaC>gaT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	,	0,4406		0,0,2203	92.0	76.0	81.0		3042,3006	0.2	1.0	19		81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	INSR	NM_000208.2,NM_001079817.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	1014/1383,1002/1371	7125510	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125510G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3042C>T	19.37:g.7125510G>A						INSR_ENST00000302850.5_Silent_p.D1014D	p.D1002D	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			16	3045	-			1014					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3006C>T	CCDS12176.1																																																																																				0.567	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			22	22	0	0	0	1	0	22	22				
BICD2	23299	broad.mit.edu	37	9	95481033	95481033	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95481033C>T	ENST00000375512.3	-	5	1961	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	BICD2_ENST00000356884.6_Missense_Mutation_p.A632T	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	632					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGGATGATAGCGATCAGGTTG	0.652																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1894-1896)Gct>Act		bicaudal D homolog 2 (Drosophila)							95.0	92.0	93.0					9																	95481033		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481033C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1894G>A	9.37:g.95481033C>T	ENSP00000364662:p.Ala632Thr					BICD2_ENST00000375512.3_Missense_Mutation_p.A632T	p.A632T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1961	-			632					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1894G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042192	0.93685	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53206	0.63;0.63	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68239	-0.5461	10	0.36615	T	0.2	-18.3132	16.2317	0.82347	0.0:1.0:0.0:0.0	.	632;632	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	T	632	ENSP00000349351:A632T;ENSP00000364662:A632T	ENSP00000349351:A632T	A	-	1	0	BICD2	94520854	1.000000	0.71417	0.987000	0.45799	0.858000	0.48976	7.714000	0.84703	2.516000	0.84829	0.561000	0.74099	GCT		0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		26	46	0	0	0	1	0	26	46				
ITGB4	3691	broad.mit.edu	37	17	73738694	73738694	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73738694C>T	ENST00000200181.3	+	25	3001	c.2814C>T	c.(2812-2814)ggC>ggT	p.G938G	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.G938G|ITGB4_ENST00000579662.1_Silent_p.G938G|ITGB4_ENST00000449880.2_Silent_p.G938G|ITGB4_ENST00000450894.3_Silent_p.G938G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	938					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGGAGGGCGTGGAGCTGG	0.677																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(2812-2814)ggC>ggT		integrin, beta 4							69.0	56.0	60.0					17																	73738694		2202	4300	6502	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738694C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2814C>T	17.37:g.73738694C>T						ITGB4_ENST00000579662.1_Silent_p.G938G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.G938G|ITGB4_ENST00000339591.3_Silent_p.G938G|ITGB4_ENST00000449880.2_Silent_p.G938G	p.G938G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3001	+	all_cancers(13;1.5e-07)		938					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.2814C>T	CCDS11727.1																																																																																				0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			13	20	0	0	0	1	0	13	20				
C12orf5	57103	broad.mit.edu	37	12	4459010	4459010	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4459010G>T	ENST00000179259.4	+	4	285	c.218G>T	c.(217-219)aGc>aTc	p.S73I	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	73					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTGGAGAGAAGCAAATTTTGC	0.338																																					Colon(1;100 192 35375 49454 52532)	ENST00000179259.4																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10						c.(217-219)aGc>aTc		chromosome 12 open reading frame 5							96.0	99.0	98.0					12																	4459010		2203	4300	6503	SO:0001583	missense	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4459010G>T	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.218G>T	12.37:g.4459010G>T	ENSP00000179259:p.Ser73Ile					C12orf5_ENST00000537251.1_3'UTR	p.S73I	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		4	285	+			73					B2R840	Missense_Mutation	SNP	ENST00000179259.4	37	c.218G>T	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059033	0.55325	.	.	ENSG00000078237	ENST00000179259	T	0.79653	-1.29	4.58	0.266	0.15617	Histidine phosphatase superfamily, clade-1 (2);	0.327305	0.38111	N	0.001817	T	0.72028	0.3410	N	0.16743	0.435	0.28591	N	0.90965	D	0.56746	0.977	P	0.61003	0.882	T	0.65232	-0.6218	10	0.16896	T	0.51	-17.1796	5.5045	0.16846	0.444:0.1391:0.417:0.0	.	73	Q9NQ88	TIGAR_HUMAN	I	73	ENSP00000179259:S73I	ENSP00000179259:S73I	S	+	2	0	C12orf5	4329271	0.173000	0.23056	0.743000	0.31040	0.923000	0.55619	-0.025000	0.12413	-0.053000	0.13289	0.655000	0.94253	AGC		0.338	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		9	38	1	0	0.0581538	1	0.0584448	9	38				
CSF2RB	1439	broad.mit.edu	37	22	37322029	37322029	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37322029G>A	ENST00000403662.3	+	4	423	c.201G>A	c.(199-201)gaG>gaA	p.E67E	CSF2RB_ENST00000262825.5_Splice_Site_p.E67E|CSF2RB_ENST00000406230.1_Splice_Site_p.E67E|CSF2RB_ENST00000536485.1_Splice_Site_p.R8R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	67					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E67E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTCCCAACAGGGACCTCCTGG	0.597																																						ENST00000262825.5																			1	Substitution - coding silent(1)	p.E67E(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.e4-1		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						99.0	76.0	84.0					22																	37322029		2203	4300	6503	SO:0001630	splice_region_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37322029G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.201-1G>A	22.37:g.37322029G>A						CSF2RB_ENST00000403662.3_Splice_Site_p.E67_splice|CSF2RB_ENST00000406230.1_Splice_Site_p.E67_splice|CSF2RB_ENST00000536485.1_Splice_Site_p.R8_splice	p.E67_splice	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			4	418	+			67					Q5JZI1|Q6ICE0	Splice_Site	SNP	ENST00000403662.3	37	c.200_splice	CCDS13936.1																																																																																				0.597	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	Silent	6	11	0	0	0	1	0	6	11				
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1681-1683)gCg>gTg		BTB (POZ) domain containing 11							137.0	119.0	125.0					12																	108004005		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004005C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1682C>T	12.37:g.108004005C>T	ENSP00000280758:p.Ala561Val		OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V	p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			5	2210	+			561					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1682C>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343882	0.95807	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.51071	1.16;1.23;1.2;0.73;0.72;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.986;0.996;0.988	T	0.59669	-0.7411	10	0.42905	T	0.14	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	561;98;561;561	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	V	561;561;561;192;195;98	ENSP00000280758:A561V;ENSP00000413889:A561V;ENSP00000447319:A561V;ENSP00000447606:A192V;ENSP00000407416:A195V;ENSP00000349690:A98V	ENSP00000280758:A561V	A	+	2	0	BTBD11	106528135	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	7.773000	0.85462	2.572000	0.86782	0.462000	0.41574	GCG		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		40	58	0	0	0	1	0	40	58				
PCDHGB1	56104	broad.mit.edu	37	5	140731726	140731726	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140731726G>A	ENST00000523390.1	+	1	1899	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGACGCGGCCCGCCAGC	0.697																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1897-1899)gcG>gcA									22.0	25.0	24.0					5																	140731726		1944	4124	6068	SO:0001819	synonymous_variant	0							g.chr5:140731726G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1899G>A	5.37:g.140731726G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A633A	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1899	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1899G>A	CCDS54923.1																																																																																				0.697	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		14	21	0	0	0	1	0	14	21				
NSD1	64324	broad.mit.edu	37	5	176707813	176707813	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176707813G>A	ENST00000439151.2	+	18	5915	c.5870G>A	c.(5869-5871)cGg>cAg	p.R1957Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1688Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1854Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1688Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1957	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGGTCTACGGACAAAAACA	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5869-5871)cGg>cAg		nuclear receptor binding SET domain protein 1							67.0	68.0	67.0					5																	176707813		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707813G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5870G>A	5.37:g.176707813G>A	ENSP00000395929:p.Arg1957Gln	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.R1854Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1688Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1688Q	p.R1957Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5915	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1957			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5870G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524022	0.44866	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.92	5.04	0.67666	SET domain (3);	0.110656	0.41294	D	0.000910	T	0.77624	0.4158	M	0.83603	2.65	0.43222	D	0.995104	P;P;P	0.42993	0.797;0.797;0.701	B;B;B	0.26693	0.043;0.043;0.072	T	0.77720	-0.2482	10	0.33940	T	0.23	.	9.0674	0.36471	0.1602:0.0:0.8398:0.0	.	1688;1854;1957	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1688;1957;1688;1854	ENSP00000346111:R1688Q;ENSP00000395929:R1957Q;ENSP00000343209:R1688Q;ENSP00000354310:R1854Q	ENSP00000343209:R1688Q	R	+	2	0	NSD1	176640419	0.998000	0.40836	0.883000	0.34634	0.937000	0.57800	5.407000	0.66363	2.801000	0.96364	0.650000	0.86243	CGG		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	29	0	0	0	1	0	25	29				
CCDC97	90324	broad.mit.edu	37	19	41828534	41828534	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41828534G>A	ENST00000269967.3	+	5	1068	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	316										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CGACAACCTCGACATCGTGGC	0.612																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(946-948)Gac>Aac		coiled-coil domain containing 97							146.0	118.0	127.0					19																	41828534		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41828534G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.946G>A	19.37:g.41828534G>A	ENSP00000269967:p.Asp316Asn						p.D316N	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			5	1068	+			316					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.946G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	g	19.82	3.897943	0.72639	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000001	T	0.66781	0.2824	L	0.39085	1.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67011	-0.5778	9	0.40728	T	0.16	-11.4511	15.653	0.77112	0.0:0.0:1.0:0.0	.	316	Q96F63	CCD97_HUMAN	N	316	.	ENSP00000269967:D316N	D	+	1	0	CCDC97	46520374	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.809000	0.86057	1.981000	0.57761	0.298000	0.19748	GAC		0.612	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		10	48	0	0	0	1	0	10	48				
COL9A1	1297	broad.mit.edu	37	6	70948980	70948980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:70948980C>A	ENST00000357250.6	-	33	2247	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.G454*|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.G454*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	697	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGTAATCCTATATCTCCC	0.259																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(2089-2091)Gga>Tga		collagen, type IX, alpha 1							59.0	65.0	63.0					6																	70948980		2202	4295	6497	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70948980C>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2089G>T	6.37:g.70948980C>A	ENSP00000349790:p.Gly697*					RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Nonsense_Mutation_p.G454*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.G454*|COL9A1_ENST00000489611.1_5'UTR	p.G697*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			33	2247	-			697			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.2089G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218264	0.97385	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6531	0.95825	0.0:1.0:0.0:0.0	.	.	.	.	X	697;454;454	.	ENSP00000315252:G454X	G	-	1	0	COL9A1	71005701	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.943000	0.63554	2.715000	0.92844	0.650000	0.86243	GGA		0.259	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	82	1	0	5.4927e-09	1	5.81457e-09	7	82				
ARAP1	116985	broad.mit.edu	37	11	72406494	72406494	+	Missense_Mutation	SNP	C	C	T	rs375239868		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72406494C>T	ENST00000393609.3	-	26	3716	c.3514G>A	c.(3514-3516)Ggt>Agt	p.G1172S	ARAP1_ENST00000334211.8_Missense_Mutation_p.G927S|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000359373.5_Missense_Mutation_p.G1172S|ARAP1_ENST00000455638.2_Missense_Mutation_p.G1172S|ARAP1_ENST00000429686.1_Missense_Mutation_p.G866S|ARAP1_ENST00000426523.1_Missense_Mutation_p.G927S|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.G932S	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1172	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATGAAGTCACCGGCATGCTGC	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3514-3516)Ggt>Agt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1		C	SER/GLY,SER/GLY,SER/GLY	0,4400		0,0,2200	76.0	66.0	69.0		3514,2596,2779	3.9	1.0	11		69	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	56,56,56	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1172/1451,866/1134,927/1206	72406494	1,12985	2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72406494C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3514G>A	11.37:g.72406494C>T	ENSP00000377233:p.Gly1172Ser					ARAP1_ENST00000426523.1_Missense_Mutation_p.G927S|ARAP1_ENST00000429686.1_Missense_Mutation_p.G866S|ARAP1_ENST00000393605.3_Missense_Mutation_p.G932S|ARAP1_ENST00000334211.8_Missense_Mutation_p.G927S|ARAP1_ENST00000393609.3_Missense_Mutation_p.G1172S|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.G1172S	p.G1172S			Q96P48	ARAP1_HUMAN			26	4365	-			1172			Ras-associating.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3514G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992511	0.74703	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.09911	2.93;2.93;2.97;3.02;2.93;3.02;2.99	4.85	3.91	0.45181	Ras-association (1);	0.148043	0.43579	D	0.000541	T	0.22551	0.0544	L	0.55481	1.735	0.40153	D	0.97697	D;D;P;D;D	0.57257	0.979;0.966;0.671;0.979;0.974	D;P;B;P;P	0.63381	0.914;0.5;0.19;0.725;0.861	T	0.00839	-1.1545	10	0.56958	D	0.05	.	8.9308	0.35668	0.1686:0.6684:0.163:0.0	.	927;866;1172;1172;932	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	S	1172;1172;932;927;1172;927;866	ENSP00000352332:G1172S;ENSP00000390461:G1172S;ENSP00000377230:G932S;ENSP00000335506:G927S;ENSP00000377233:G1172S;ENSP00000392264:G927S;ENSP00000403127:G866S	ENSP00000335506:G927S	G	-	1	0	ARAP1	72084142	0.944000	0.32072	0.972000	0.41901	0.833000	0.47200	3.105000	0.50314	0.982000	0.38575	0.460000	0.39030	GGT		0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		23	32	0	0	0	1	0	23	32				
P4HA1	5033	broad.mit.edu	37	10	74806744	74806744	+	Missense_Mutation	SNP	C	C	T	rs183380808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74806744C>T	ENST00000307116.2	-	8	1132	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	P4HA1_ENST00000373008.2_Missense_Mutation_p.R339H|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339H|P4HA1_ENST00000412021.2_Missense_Mutation_p.R339H|P4HA1_ENST00000263556.3_Missense_Mutation_p.R339H|P4HA1_ENST00000440381.1_Missense_Mutation_p.R339H			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	339					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCATGGAAGCGAATAATACG	0.368																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1015-1017)cGc>cAc		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						123.0	121.0	121.0					10																	74806744		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74806744C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1016G>A	10.37:g.74806744C>T	ENSP00000307318:p.Arg339His					P4HA1_ENST00000263556.3_Missense_Mutation_p.R339H|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339H|P4HA1_ENST00000440381.1_Missense_Mutation_p.R339H|P4HA1_ENST00000307116.2_Missense_Mutation_p.R339H|P4HA1_ENST00000373008.2_Missense_Mutation_p.R339H	p.R339H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			9	1349	-	Prostate(51;0.0198)		339					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1016G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.439118	0.96168	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.44482	0.93;0.92;0.93;0.93;0.92;0.93	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.094876	0.85682	D	0.000000	T	0.70954	0.3283	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.69142	0.822;0.962;0.962	T	0.74396	-0.3679	10	0.72032	D	0.01	-2.0691	20.369	0.98888	0.0:1.0:0.0:0.0	.	339;339;339	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	339	ENSP00000307318:R339H;ENSP00000362099:R339H;ENSP00000411688:R339H;ENSP00000378353:R339H;ENSP00000263556:R339H;ENSP00000414464:R339H	ENSP00000263556:R339H	R	-	2	0	P4HA1	74476750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.819000	0.97034	0.650000	0.86243	CGC		0.368	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		21	37	0	0	0	1	0	21	37				
SLC12A4	6560	broad.mit.edu	37	16	67980408	67980408	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67980408G>A	ENST00000316341.3	-	18	2510	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000541864.2_Silent_p.S759S|SLC12A4_ENST00000422611.2_Silent_p.S792S|SLC12A4_ENST00000338335.3_Intron|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Silent_p.S742S|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	790					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGCACCACGGAGTTATGCC	0.677																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2374-2376)tcC>tcT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						54.0	54.0	54.0					16																	67980408		2198	4299	6497	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980408G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2370C>T	16.37:g.67980408G>A						SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000316341.3_Silent_p.S790S|SLC12A4_ENST00000572037.1_Silent_p.S742S|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Silent_p.S759S	p.S792S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2415	-		Ovarian(137;0.192)	790					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2376C>T	CCDS10855.1																																																																																				0.677	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		6	25	0	0	0	1	0	6	25				
PKN2	5586	broad.mit.edu	37	1	89250335	89250335	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89250335T>C	ENST00000370521.3	+	7	1358	c.999T>C	c.(997-999)gtT>gtC	p.V333V	PKN2_ENST00000370513.5_Silent_p.V333V|PKN2_ENST00000544045.1_Silent_p.V7V|PKN2_ENST00000370505.3_Silent_p.V176V|PKN2_ENST00000316005.7_Silent_p.V333V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	333	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTTTGGAAGTTCGTCTTATGG	0.398																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(997-999)gtT>gtC		protein kinase N2							69.0	65.0	66.0					1																	89250335		1880	4109	5989	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89250335T>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.999T>C	1.37:g.89250335T>C						PKN2_ENST00000544045.1_Silent_p.V7V|PKN2_ENST00000316005.7_Silent_p.V333V|PKN2_ENST00000370505.3_Silent_p.V176V|PKN2_ENST00000370513.5_Silent_p.V333V	p.V333V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	7	1358	+		Lung NSC(277;0.123)	333			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.999T>C	CCDS714.1																																																																																				0.398	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		24	30	0	0	0	1	0	24	30				
ADAMTS4	9507	broad.mit.edu	37	1	161167913	161167913	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161167913T>C	ENST00000367996.5	-	1	933	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.T169A|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	169					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAGTTAGGGGTGCCTCCCTCC	0.627																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(505-507)Acc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							55.0	54.0	54.0					1																	161167913		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167913T>C	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.505A>G	1.37:g.161167913T>C	ENSP00000356975:p.Thr169Ala					ADAMTS4_ENST00000367995.3_Missense_Mutation_p.T169A	p.T169A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	933	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		169					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.505A>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	T	7.611	0.674875	0.14841	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.63417	0.06;-0.04	5.26	-9.63	0.00544	.	1.190730	0.06050	N	0.656419	T	0.08133	0.0203	N	0.02315	-0.6	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09143	-1.0688	10	0.05351	T	0.99	.	10.1051	0.42528	0.3189:0.5634:0.0:0.1176	.	169;169	Q5VTW1;O75173	.;ATS4_HUMAN	A	169	ENSP00000356975:T169A;ENSP00000356974:T169A	ENSP00000356974:T169A	T	-	1	0	ADAMTS4	159434537	0.003000	0.15002	0.028000	0.17463	0.988000	0.76386	-0.945000	0.03909	-1.972000	0.01001	0.402000	0.26972	ACC		0.627	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		15	19	0	0	0	1	0	15	19				
KDELC2	143888	broad.mit.edu	37	11	108350118	108350118	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108350118T>C	ENST00000323468.5	-	6	1268	c.1203A>G	c.(1201-1203)gaA>gaG	p.E401E	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Silent_p.E345E|KDELC2_ENST00000375648.1_Silent_p.E345E	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	401						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGTAGAAATGTTCATAATATG	0.403																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1033-1035)gaA>gaG		KDEL (Lys-Asp-Glu-Leu) containing 2							86.0	82.0	83.0					11																	108350118		1859	4099	5958	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108350118T>C	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1203A>G	11.37:g.108350118T>C						KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Silent_p.E345E|KDELC2_ENST00000323468.5_Silent_p.E401E	p.E345E			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	5	1337	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	401					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.1035A>G	CCDS41711.1																																																																																				0.403	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		3	59	0	0	0	1	0	3	59				
ZNF560	147741	broad.mit.edu	37	19	9577923	9577923	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9577923G>A	ENST00000301480.4	-	10	1913	c.1700C>T	c.(1699-1701)gCt>gTt	p.A567V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	567					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTTCTCTCCAGCGTGTGTTCG	0.408																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1699-1701)gCt>gTt		zinc finger protein 560							116.0	107.0	110.0					19																	9577923		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577923G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1700C>T	19.37:g.9577923G>A	ENSP00000301480:p.Ala567Val						p.A567V	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1913	-			567					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1700C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127939	0.20959	.	.	ENSG00000198028	ENST00000301480	T	0.17691	2.26	2.05	-2.29	0.06805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	L	0.31120	0.905	0.09310	N	1	B	0.15141	0.012	B	0.21917	0.037	T	0.35525	-0.9785	9	0.87932	D	0	.	10.7334	0.46111	0.0:0.5621:0.4379:0.0	.	567	Q96MR9	ZN560_HUMAN	V	567	ENSP00000301480:A567V	ENSP00000301480:A567V	A	-	2	0	ZNF560	9438923	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.071000	0.14594	-0.402000	0.07633	0.491000	0.48974	GCT		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		15	83	0	0	0	1	0	15	83				
NLRP8	126205	broad.mit.edu	37	19	56466968	56466968	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56466968C>T	ENST00000291971.3	+	3	1615	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	515	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATTTTTTGCGGCCTTGTTT	0.468																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1543-1545)gCg>gTg		NLR family, pyrin domain containing 8							192.0	187.0	189.0					19																	56466968		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466968C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1544C>T	19.37:g.56466968C>T	ENSP00000291971:p.Ala515Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1615	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	515			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1544C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862872	0.71949	.	.	ENSG00000179709	ENST00000291971	D	0.90504	-2.68	1.92	1.92	0.25849	.	.	.	.	.	D	0.94499	0.8229	M	0.86268	2.805	0.22435	N	0.999104	D;D	0.89917	1.0;1.0	D;D	0.79108	0.968;0.992	D	0.85147	0.0984	9	0.87932	D	0	.	7.3591	0.26735	0.0:1.0:0.0:0.0	.	515;515	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	515	ENSP00000291971:A515V	ENSP00000291971:A515V	A	+	2	0	NLRP8	61158780	0.991000	0.36638	0.010000	0.14722	0.564000	0.35744	3.092000	0.50207	1.389000	0.46526	0.514000	0.50259	GCG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		54	84	0	0	0	1	0	54	84				
KIAA0141	9812	broad.mit.edu	37	5	141316895	141316895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141316895C>T	ENST00000432126.2	+	11	1416	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	KIAA0141_ENST00000194118.4_Nonsense_Mutation_p.R428*	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	428					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGGCTGCGAGCCCTCTT	0.557																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(1282-1284)Cga>Tga		KIAA0141							70.0	76.0	74.0					5																	141316895		2203	4300	6503	SO:0001587	stop_gained	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141316895C>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1282C>T	5.37:g.141316895C>T	ENSP00000396225:p.Arg428*					KIAA0141_ENST00000194118.4_Nonsense_Mutation_p.R428*	p.R428*	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1416	+		all_hematologic(541;0.118)	428					Q969R4|Q96EU9	Nonsense_Mutation	SNP	ENST00000432126.2	37	c.1282C>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127896	0.37533	.	.	ENSG00000081791	ENST00000432126;ENST00000194118	.	.	.	5.6	3.62	0.41486	.	0.652548	0.16134	N	0.228070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-7.1751	10.1312	0.42680	0.4428:0.5572:0.0:0.0	.	.	.	.	X	428	.	ENSP00000194118:R428X	R	+	1	2	KIAA0141	141297079	0.961000	0.32948	0.413000	0.26509	0.014000	0.08584	2.136000	0.42121	1.357000	0.45904	-0.181000	0.13052	CGA		0.557	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		27	40	0	0	0	1	0	27	40				
CBX2	84733	broad.mit.edu	37	17	77758430	77758430	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77758430C>T	ENST00000310942.4	+	5	1292	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	396					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGTGGCCTCATTGGGGCCA	0.682																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(1186-1188)ctC>ctT		chromobox homolog 2							15.0	19.0	18.0					17																	77758430		2198	4284	6482	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758430C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1188C>T	17.37:g.77758430C>T							p.L396L	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1292	+			396					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.1188C>T	CCDS32757.1																																																																																				0.682	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		6	5	0	0	0	1	0	6	5				
SLC45A1	50651	broad.mit.edu	37	1	8390709	8390709	+	Missense_Mutation	SNP	G	G	A	rs200084739		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8390709G>A	ENST00000471889.1	+	5	1541	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D386N|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D420N|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	386					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGGCCACGACAGCTACCT	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1156-1158)Gac>Aac		solute carrier family 45, member 1							38.0	39.0	39.0					1																	8390709		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390709G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1156G>A	1.37:g.8390709G>A	ENSP00000418096:p.Asp386Asn					SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D420N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D386N	p.D386N			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1541	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	386					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1156G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	8.562	0.878015	0.17395	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19250	2.18;2.16;2.18	4.56	3.65	0.41850	.	0.882198	0.10020	N	0.726117	T	0.17534	0.0421	L	0.47716	1.5	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.31861	-0.9928	10	0.16896	T	0.51	-29.0277	8.2071	0.31463	0.2076:0.0:0.7924:0.0	.	386	Q9Y2W3	S45A1_HUMAN	N	386;420;386	ENSP00000418096:D386N;ENSP00000366699:D420N;ENSP00000289877:D386N	ENSP00000289877:D386N	D	+	1	0	SLC45A1	8313296	0.942000	0.31987	0.040000	0.18447	0.420000	0.31355	3.918000	0.56432	0.891000	0.36235	0.561000	0.74099	GAC		0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			9	15	0	0	0	1	0	9	15				
ANKS6	203286	broad.mit.edu	37	9	101533322	101533322	+	Missense_Mutation	SNP	C	C	T	rs138782444	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101533322C>T	ENST00000353234.4	-	10	1875	c.1828G>A	c.(1828-1830)Gtc>Atc	p.V610I	ANKS6_ENST00000375019.2_Missense_Mutation_p.V309I|ANKS6_ENST00000540940.1_Missense_Mutation_p.V415I|ANKS6_ENST00000375018.1_Missense_Mutation_p.V610I			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	610						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACAGGCCTGACGGGTGTCTAC	0.577													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17813	0.0		0.0	False		,,,				2504	0.0					ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(1828-1830)Gtc>Atc		ankyrin repeat and sterile alpha motif domain containing 6		C	ILE/VAL	11,3845		0,11,1917	37.0	42.0	41.0		1828	1.3	0.0	9	dbSNP_134	41	4,8256		0,4,4126	yes	missense	ANKS6	NM_173551.3	29	0,15,6043	TT,TC,CC		0.0484,0.2853,0.1238	benign	610/872	101533322	15,12101	1928	4130	6058	SO:0001583	missense	203286							g.chr9:101533322C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1828G>A	9.37:g.101533322C>T	ENSP00000297837:p.Val610Ile					ANKS6_ENST00000375018.1_Missense_Mutation_p.V610I|ANKS6_ENST00000540940.1_Missense_Mutation_p.V415I|ANKS6_ENST00000375019.2_Missense_Mutation_p.V309I	p.V610I			Q68DC2	ANKS6_HUMAN			10	1875	-		Acute lymphoblastic leukemia(62;0.0527)	610					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1828G>A	CCDS43856.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	7.893|7.893	0.732677|0.732677	0.15507|0.15507	0.002853|0.002853	4.84E-4|4.84E-4	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.69040	.|1.82;-0.36;-0.37;2.08	5.79|5.79	1.28|1.28	0.21552|0.21552	.|.	.|1.133000	.|0.06281	.|N	.|0.697495	T|T	0.45438|0.45438	0.1342|0.1342	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.27191|0.27191	-1.0081|-1.0081	5|10	.|0.29301	.|T	.|0.29	-1.301|-1.301	8.0071|8.0071	0.30332|0.30332	0.0:0.5915:0.0:0.4085|0.0:0.5915:0.0:0.4085	.|.	.|610;610	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	H|I	78|309;610;610;415	.|ENSP00000364159:V309I;ENSP00000364158:V610I;ENSP00000297837:V610I;ENSP00000442189:V415I	.|ENSP00000297837:V610I	R|V	-|-	2|1	0|0	ANKS6|ANKS6	100573143|100573143	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.115000|0.115000	0.19883|0.19883	0.074000|0.074000	0.14662|0.14662	0.038000|0.038000	0.15604|0.15604	-0.224000|-0.224000	0.12420|0.12420	CGT|GTC		0.577	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		3	15	0	0	0	1	0	3	15				
EEF2K	29904	broad.mit.edu	37	16	22268671	22268671	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:22268671C>T	ENST00000263026.5	+	8	1340	c.866C>T	c.(865-867)aCg>aTg	p.T289M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	289	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGATCCACACGGAGACGGGC	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(865-867)aCg>aTg		eukaryotic elongation factor-2 kinase							139.0	115.0	123.0					16																	22268671		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268671C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.866C>T	16.37:g.22268671C>T	ENSP00000263026:p.Thr289Met						p.T289M	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1340	+			289			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.866C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893574	0.91889	.	.	ENSG00000103319	ENST00000263026	T	0.13420	2.59	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.046170	0.85682	D	0.000000	T	0.50871	0.1641	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60821	-0.7187	10	0.87932	D	0	-7.1608	20.2192	0.98319	0.0:1.0:0.0:0.0	.	289	O00418	EF2K_HUMAN	M	289	ENSP00000263026:T289M	ENSP00000263026:T289M	T	+	2	0	EEF2K	22176172	1.000000	0.71417	0.966000	0.40874	0.732000	0.41865	7.288000	0.78691	2.780000	0.95670	0.655000	0.94253	ACG		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		10	35	0	0	0	1	0	10	35				
ST6GALNAC4	27090	broad.mit.edu	37	9	130674860	130674860	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130674860C>T	ENST00000335791.5	-	4	573	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.V16M	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	100					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						ATGCGGAACACGCACTCGGCA	0.682																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(298-300)Gtg>Atg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							42.0	37.0	39.0					9																	130674860		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674860C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.298G>A	9.37:g.130674860C>T	ENSP00000336733:p.Val100Met					ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.V16M|ST6GALNAC4_ENST00000495983.1_5'UTR	p.V100M	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	573	-			100					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.298G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390505	0.82902	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.60797	0.16;0.16;0.16	5.58	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.92833	3.35	0.58432	D	0.999997	D	0.76494	0.999	D	0.63703	0.917	T	0.81623	-0.0849	10	0.87932	D	0	-9.2979	10.068	0.42315	0.0:0.7869:0.1379:0.0753	.	100	Q9H4F1	SIA7D_HUMAN	M	16;100;16;16	ENSP00000336733:V100M;ENSP00000340382:V16M;ENSP00000355130:V16M	ENSP00000336733:V100M	V	-	1	0	ST6GALNAC4	129714681	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	6.041000	0.70988	1.362000	0.46000	0.462000	0.41574	GTG		0.682	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		12	12	0	0	0	1	0	12	12				
TRPM1	4308	broad.mit.edu	37	15	31294080	31294080	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31294080G>A	ENST00000256552.6	-	28	4970	c.4823C>T	c.(4822-4824)aCa>aTa	p.T1608I	TRPM1_ENST00000397795.2_Missense_Mutation_p.T1586I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.T1625I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTTCTGCTGTCATTCCAGA	0.363																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4873-4875)aCa>aTa		transient receptor potential cation channel, subfamily M, member 1							97.0	88.0	91.0					15																	31294080		1846	4090	5936	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294080G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4823C>T	15.37:g.31294080G>A	ENSP00000256552:p.Thr1608Ile					TRPM1_ENST00000256552.6_Missense_Mutation_p.T1608I|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1586I	p.T1625I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	5187	-		all_lung(180;1.92e-11)	1586						Missense_Mutation	SNP	ENST00000256552.6	37	c.4874C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384196	0.25031	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.50813	0.75;0.73;0.76	4.87	1.57	0.23409	.	0.934831	0.09053	N	0.855600	T	0.43809	0.1264	N	0.19112	0.55	0.09310	N	1	D;P	0.56968	0.978;0.629	P;B	0.56216	0.794;0.218	T	0.29518	-1.0009	10	0.59425	D	0.04	-3.6057	5.9428	0.19201	0.1471:0.0:0.5639:0.2889	.	1580;1586	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1586;1625;1608;1586	ENSP00000380897:T1586I;ENSP00000437849:T1625I;ENSP00000256552:T1608I	ENSP00000256552:T1608I	T	-	2	0	TRPM1	29081372	0.022000	0.18835	0.000000	0.03702	0.033000	0.12548	2.126000	0.42026	0.484000	0.27630	0.563000	0.77884	ACA		0.363	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		15	34	0	0	0	1	0	15	34				
LRRC39	127495	broad.mit.edu	37	1	100621788	100621788	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100621788G>A	ENST00000370137.1	-	7	797	c.599C>T	c.(598-600)gCc>gTc	p.A200V	LRRC39_ENST00000370138.1_Missense_Mutation_p.A200V|LRRC39_ENST00000342895.3_Missense_Mutation_p.A200V	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	200										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCACTCAAGGGCAGGCATGTT	0.388																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(598-600)gCc>gTc		leucine rich repeat containing 39							99.0	91.0	94.0					1																	100621788		2203	4300	6503	SO:0001583	missense	127495							g.chr1:100621788G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.599C>T	1.37:g.100621788G>A	ENSP00000359156:p.Ala200Val					LRRC39_ENST00000370137.1_Missense_Mutation_p.A200V|LRRC39_ENST00000342895.3_Missense_Mutation_p.A200V	p.A200V	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	797	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	200					B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	c.599C>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802841	0.70682	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.17370	2.28;2.28;2.28	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000029	T	0.14787	0.0357	M	0.62723	1.935	0.38440	D	0.946685	P;P	0.47484	0.873;0.896	B;B	0.43838	0.306;0.433	T	0.01045	-1.1470	10	0.51188	T	0.08	.	14.942	0.71000	0.0:0.0:0.8237:0.1763	.	200;200	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	V	200	ENSP00000359156:A200V;ENSP00000359157:A200V;ENSP00000344470:A200V	ENSP00000344470:A200V	A	-	2	0	LRRC39	100394376	0.998000	0.40836	1.000000	0.80357	0.612000	0.37316	2.701000	0.47094	2.793000	0.96121	0.655000	0.94253	GCC		0.388	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		15	30	0	0	0	1	0	15	30				
SEMA3C	10512	broad.mit.edu	37	7	80433528	80433528	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:80433528C>T	ENST00000265361.3	-	8	1256	c.695G>A	c.(694-696)gGt>gAt	p.G232D	SEMA3C_ENST00000544525.1_Missense_Mutation_p.G250D|SEMA3C_ENST00000536800.1_Missense_Mutation_p.G84D|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G232D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATCAGTACCATCTGGGAT	0.358																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(694-696)gGt>gAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							142.0	131.0	135.0					7																	80433528		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433528C>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.695G>A	7.37:g.80433528C>T	ENSP00000265361:p.Gly232Asp					SEMA3C_ENST00000544525.1_Missense_Mutation_p.G250D|SEMA3C_ENST00000536800.1_Missense_Mutation_p.G84D|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G232D	p.G232D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			8	1256	-			232			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.695G>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961347	0.92791	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.39245	1.2	0.80722	D	1	P;D;D	0.63046	0.902;0.992;0.988	B;D;D	0.67231	0.439;0.917;0.95	T	0.09640	-1.0665	10	0.72032	D	0.01	.	19.8695	0.96845	0.0:1.0:0.0:0.0	.	84;250;232	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	D	232;232;250;84	ENSP00000265361:G232D;ENSP00000411193:G232D;ENSP00000445649:G250D;ENSP00000438258:G84D	ENSP00000265361:G232D	G	-	2	0	SEMA3C	80271464	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.794000	0.85869	2.684000	0.91462	0.650000	0.86243	GGT		0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		23	30	0	0	0	1	0	23	30				
FLNC	2318	broad.mit.edu	37	7	128485188	128485188	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128485188C>A	ENST00000325888.8	+	21	3930	c.3669C>A	c.(3667-3669)acC>acA	p.T1223T	FLNC_ENST00000346177.6_Silent_p.T1223T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1223					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCCTGGCACCTACACCATTA	0.597																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(3667-3669)acC>acA		filamin C, gamma							67.0	79.0	75.0					7																	128485188		2185	4272	6457	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485188C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3669C>A	7.37:g.128485188C>A						FLNC_ENST00000346177.6_Silent_p.T1223T	p.T1223T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			21	3930	+			1223					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3669C>A	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	21	1	0	0.000274275	1	0.000279654	7	21				
IGHV1-18	28468	broad.mit.edu	37	14	106641947	106641947	+	RNA	SNP	G	G	A	rs188094559	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106641947G>A	ENST00000390605.2	-	0	105									immunoglobulin heavy variable 1-18																		TGGGGAGTCCGTTACCTGTTG	0.572													.|||	11	0.00219649	0.0068	0.0014	5008	,	,		11623	0.0		0.0	False		,,,				2504	0.001					ENST00000390605.2																			0															C		12,3860		0,12,1924	62.0	60.0	61.0			-1.1	0.0	14		61	1,8261		0,1,4130	no	intergenic				0,13,6054	AA,AG,GG		0.0121,0.3099,0.1071			106641947	13,12121	1936	4131	6067			0							g.chr14:106641947G>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641947G>A														0	105	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.572	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		6	35	0	0	0	1	0	6	35				
PLEKHH3	79990	broad.mit.edu	37	17	40825731	40825731	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40825731C>T	ENST00000591022.1	-	4	807	c.420G>A	c.(418-420)cgG>cgA	p.R140R	PLEKHH3_ENST00000412503.1_Silent_p.R140R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Silent_p.R140R	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	140	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCCGAGACGCCGCGCCCCTT	0.701																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(418-420)cgG>cgA		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							14.0	15.0	15.0					17																	40825731		2092	4117	6209	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40825731C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.420G>A	17.37:g.40825731C>T						PLEKHH3_ENST00000412503.1_Silent_p.R140R|PLEKHH3_ENST00000591022.1_Silent_p.R140R|PLEKHH3_ENST00000456950.2_5'UTR	p.R140R			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	4	850	-		Breast(137;0.00116)	140			PH.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.420G>A	CCDS11434.1																																																																																				0.701	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		7	16	0	0	0	1	0	7	16				
KLK9	284366	broad.mit.edu	37	19	51509868	51509868	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51509868G>A	ENST00000594211.1	-	3	312	c.312C>T	c.(310-312)agC>agT	p.S104S	KLK9_ENST00000376832.4_Silent_p.S104S|KLK9_ENST00000250366.6_Silent_p.S104S|CTB-147C22.9_ENST00000594512.1_RNA			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGTCATTGGCGCTGAGGTCCT	0.602																																						ENST00000376832.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(310-312)agC>agT		kallikrein-related peptidase 9							83.0	68.0	73.0					19																	51509868		2203	4297	6500	SO:0001819	synonymous_variant	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51509868G>A	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.312C>T	19.37:g.51509868G>A						CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.S104S|KLK9_ENST00000250366.6_Silent_p.S104S	p.S104S	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	3	345	-		all_neural(266;0.0652)	104			Peptidase S1.		Q6QA55	Silent	SNP	ENST00000594211.1	37	c.312C>T	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	g	4.580	0.107816	0.08780	.	.	ENSG00000213022	ENST00000544410	.	.	.	3.8	-7.6	0.01303	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48387	-0.9040	5	0.87932	D	0	.	5.8608	0.18745	0.1604:0.1021:0.5359:0.2016	.	.	.	.	V	52	.	ENSP00000443289:A52V	A	-	2	0	KLK9	56201680	0.000000	0.05858	0.003000	0.11579	0.909000	0.53808	-5.865000	0.00093	-4.014000	0.00081	-1.560000	0.00886	GCG		0.602	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		14	24	0	0	0	1	0	14	24				
PDGFA	5154	broad.mit.edu	37	7	540110	540110	+	Missense_Mutation	SNP	G	G	A	rs375414569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:540110G>A	ENST00000354513.5	-	6	999	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	PDGFA_ENST00000402802.3_Intron	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	203					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TTTCTTTTCCGTTTTTTACCT	0.547																																						ENST00000354513.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(607-609)Cgg>Tgg		platelet-derived growth factor alpha polypeptide		G	TRP/ARG,	0,4406		0,0,2203	211.0	165.0	181.0		607,	4.4	1.0	7		181	1,8591	1.2+/-3.3	0,1,4295	no	missense,intron	PDGFA	NM_002607.5,NM_033023.4	101,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	203/212,	540110	1,12997	2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540110G>A		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.607C>T	7.37:g.540110G>A	ENSP00000346508:p.Arg203Trp					PDGFA_ENST00000402802.3_Intron	p.R203W	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	6	999	-		Ovarian(82;0.0112)	203					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.607C>T	CCDS34578.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036236	0.54896	0.0	1.16E-4	ENSG00000197461	ENST00000354513	T	0.53857	0.6	5.34	4.44	0.53790	.	0.416661	0.25651	N	0.029207	T	0.60025	0.2237	L	0.27053	0.805	0.38626	D	0.951265	D	0.89917	1.0	D	0.77557	0.99	T	0.66217	-0.5979	10	0.62326	D	0.03	-10.1431	14.2914	0.66281	0.0:0.0:0.8499:0.1501	.	203	P04085	PDGFA_HUMAN	W	203	ENSP00000346508:R203W	ENSP00000346508:R203W	R	-	1	2	PDGFA	506636	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	3.750000	0.55157	1.207000	0.43291	0.561000	0.74099	CGG		0.547	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			12	30	0	0	0	1	0	12	30				
LRCH1	23143	broad.mit.edu	37	13	47286659	47286659	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:47286659G>A	ENST00000389798.3	+	15	1778		c.e15-1		LRCH1_ENST00000389797.3_Splice_Site|LRCH1_ENST00000311191.6_Splice_Site	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAACACCACAGATTAGAGAGA	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.e15-1		leucine-rich repeats and calponin homology (CH) domain containing 1							130.0	138.0	135.0					13																	47286659		2203	4300	6503	SO:0001630	splice_region_variant	23143							g.chr13:47286659G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1582-1G>A	13.37:g.47286659G>A						LRCH1_ENST00000389798.3_Splice_Site|LRCH1_ENST00000389797.3_Splice_Site		NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	15	1810	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)						B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Splice_Site	SNP	ENST00000389798.3	37		CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234967	0.79800	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.806	0.92037	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRCH1	46184660	1.000000	0.71417	0.827000	0.32855	0.413000	0.31143	4.689000	0.61723	2.778000	0.95560	0.655000	0.94253	.		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	Intron	43	59	0	0	0	1	0	43	59				
COL12A1	1303	broad.mit.edu	37	6	75866131	75866131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75866131C>T	ENST00000322507.8	-	15	3401	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1031	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCATGAGGGCGATAGACAAC	0.473																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3091-3093)cGc>cAc		collagen, type XII, alpha 1							251.0	236.0	241.0					6																	75866131		1960	4151	6111	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75866131C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3092G>A	6.37:g.75866131C>T	ENSP00000325146:p.Arg1031His					COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031H|COL12A1_ENST00000345356.6_Intron	p.R1031H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			15	3401	-			1031			Fibronectin type-III 7.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.3092G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839447	0.32513	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.46	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.57548	0.2061	L	0.56769	1.78	0.20873	N	0.999836	D	0.69078	0.997	P	0.61070	0.883	T	0.55891	-0.8069	10	0.52906	T	0.07	.	14.2768	0.66184	0.0:0.9282:0.0:0.0718	.	1031	Q99715	COCA1_HUMAN	H	1031	ENSP00000325146:R1031H;ENSP00000412864:R1031H;ENSP00000421216:R1031H	ENSP00000325146:R1031H	R	-	2	0	COL12A1	75922851	0.907000	0.30839	0.366000	0.25914	0.057000	0.15508	1.765000	0.38481	1.296000	0.44742	0.591000	0.81541	CGC		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		11	41	0	0	0	1	0	11	41				
PDDC1	347862	broad.mit.edu	37	11	771069	771069	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:771069G>A	ENST00000319863.8	-	7	601	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	PDDC1_ENST00000442059.2_Missense_Mutation_p.R144C|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000524550.1_Missense_Mutation_p.R158C|PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	194						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCAGGTGGCGGTCCAGCACG	0.652																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(580-582)Cgc>Tgc		Parkinson disease 7 domain containing 1							47.0	46.0	46.0					11																	771069		2198	4300	6498	SO:0001583	missense	347862					extracellular region		g.chr11:771069G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.580C>T	11.37:g.771069G>A	ENSP00000321691:p.Arg194Cys					PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.R158C|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000442059.2_Missense_Mutation_p.R144C|PDDC1_ENST00000526325.1_Intron	p.R194C	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	601	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	194					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.580C>T	CCDS7713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.85|17.85	3.491410|3.491410	0.64074|0.64074	.|.	.|.	ENSG00000177225|ENSG00000177225	ENST00000465313|ENST00000319863;ENST00000442059;ENST00000524550	.|.	.|.	.|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|ThiJ/PfpI (1);	.|.	.|.	.|.	.|.	T|T	0.79046|0.79046	0.4380|0.4380	M|M	0.85041|0.85041	2.73|2.73	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.81733|0.81733	-0.0798|-0.0798	5|8	.|0.72032	.|D	.|0.01	.|.	10.4853|10.4853	0.44717|0.44717	0.0:0.0:0.6864:0.3136|0.0:0.0:0.6864:0.3136	.|.	.|158;194	.|B7ZKW3;Q8NB37	.|.;PDDC1_HUMAN	L|C	44|194;144;158	.|.	.|ENSP00000321691:R194C	P|R	-|-	2|1	0|0	PDDC1|PDDC1	761069|761069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.714000|0.714000	0.41099|0.41099	2.295000|2.295000	0.43576|0.43576	2.250000|2.250000	0.74265|0.74265	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.652	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		8	3	0	0	0	1	0	8	3				
S100A3	6274	broad.mit.edu	37	1	153520234	153520234	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153520234C>T	ENST00000368713.3	-	3	426	c.230G>A	c.(229-231)cGc>cAc	p.R77H	S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Missense_Mutation_p.R77H|S100A4_ENST00000481009.1_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	77	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAAGTGAGCGCACATACTC	0.562																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(229-231)cGc>cAc		S100 calcium binding protein A3							220.0	187.0	199.0					1																	153520234		2203	4300	6503	SO:0001583	missense	6274						calcium ion binding|protein binding	g.chr1:153520234C>T	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.230G>A	1.37:g.153520234C>T	ENSP00000357702:p.Arg77His					S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.R77H	p.R77H	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	426	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		77			EF-hand 2.		D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	c.230G>A	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459439	0.26248	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.14391	2.51;2.51	4.85	1.72	0.24424	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.660634	0.14647	N	0.306821	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33624	-0.9861	10	0.62326	D	0.03	.	4.4405	0.11572	0.0:0.6072:0.1865:0.2063	.	77	P33764	S10A3_HUMAN	H	77	ENSP00000357702:R77H;ENSP00000357701:R77H	ENSP00000357701:R77H	R	-	2	0	S100A3	151786858	0.000000	0.05858	0.099000	0.21106	0.520000	0.34377	-0.126000	0.10563	0.559000	0.29153	0.655000	0.94253	CGC		0.562	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		29	65	0	0	0	1	0	29	65				
ECM2	1842	broad.mit.edu	37	9	95280145	95280145	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95280145T>C	ENST00000344604.5	-	3	454	c.305A>G	c.(304-306)cAc>cGc	p.H102R	ECM2_ENST00000375540.1_Missense_Mutation_p.H102R|ECM2_ENST00000444490.2_Missense_Mutation_p.H102R|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	102	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TACCAAACAGTGTCCCTTCTT	0.403																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(304-306)cAc>cGc		extracellular matrix protein 2, female organ and adipocyte specific							118.0	118.0	118.0					9																	95280145		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95280145T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.305A>G	9.37:g.95280145T>C	ENSP00000344758:p.His102Arg					ECM2_ENST00000375540.1_Missense_Mutation_p.H102R|ECM2_ENST00000444490.2_Missense_Mutation_p.H102R|CENPP_ENST00000375587.3_Intron	p.H102R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			3	454	-			102			VWFC.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.305A>G	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628773	0.28978	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.61	0.6	0.17524	von Willebrand factor, type C (1);	0.269079	0.41294	N	0.000916	T	0.22859	0.0552	L	0.42245	1.32	0.28467	N	0.915592	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.09377	0.003;0.002;0.002;0.004	T	0.17018	-1.0383	10	0.31617	T	0.26	.	10.4234	0.44363	0.0:0.3574:0.0:0.6426	.	102;102;102;102	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	R	102	ENSP00000393971:H102R;ENSP00000344758:H102R;ENSP00000364690:H102R;ENSP00000378905:H102R	ENSP00000344758:H102R	H	-	2	0	ECM2	94319966	0.991000	0.36638	0.951000	0.38953	0.983000	0.72400	1.114000	0.31196	0.153000	0.19213	-0.250000	0.11733	CAC		0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		13	17	0	0	0	1	0	13	17				
PPP1R13B	23368	broad.mit.edu	37	14	104224075	104224075	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104224075C>T	ENST00000202556.9	-	5	650	c.368G>A	c.(367-369)cGt>cAt	p.R123H		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	123					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAGTTCAACACGTGGATTCCC	0.398																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(367-369)cGt>cAt		protein phosphatase 1, regulatory subunit 13B							124.0	112.0	116.0					14																	104224075		1879	4109	5988	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104224075C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.368G>A	14.37:g.104224075C>T	ENSP00000202556:p.Arg123His						p.R123H	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			5	650	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	123					B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.368G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178261	0.94846	.	.	ENSG00000088808	ENST00000202556;ENST00000555734	T;T	0.31769	1.48;1.48	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.50333	1.59	0.80722	D	1	P	0.47677	0.899	B	0.41860	0.368	T	0.08785	-1.0705	10	0.49607	T	0.09	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	123	Q96KQ4	ASPP1_HUMAN	H	123;120	ENSP00000202556:R123H;ENSP00000452376:R120H	ENSP00000202556:R123H	R	-	2	0	PPP1R13B	103293828	1.000000	0.71417	0.781000	0.31783	0.995000	0.86356	5.786000	0.69006	2.702000	0.92279	0.655000	0.94253	CGT		0.398	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		38	51	0	0	0	1	0	38	51				
ZAN	7455	broad.mit.edu	37	7	100373052	100373052	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100373052G>A	ENST00000348028.3	+	0	6046				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAAAGTGTGCCACCCCGCC	0.552																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							63.0	63.0	63.0					7																	100373052		2028	4166	6194			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373052G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373052G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6027	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	15.57	2.873067	0.51695	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.26	4.26	0.50523	von Willebrand factor, type D domain (3);	0.000000	0.47852	D	0.000201	T	0.76983	0.4064	.	.	.	0.36801	D	0.885346	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81980	-0.0684	9	0.54805	T	0.06	.	12.8735	0.57978	0.0:0.0:1.0:0.0	.	471;1960;1961	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	Y	1960;1960;1960;471	ENSP00000445943:C1960Y;ENSP00000445091:C1960Y;ENSP00000444427:C1960Y;ENSP00000441117:C471Y	ENSP00000445091:C1960Y	C	+	2	0	ZAN	100210988	1.000000	0.71417	0.936000	0.37596	0.310000	0.27922	7.210000	0.77924	2.303000	0.77524	0.462000	0.41574	TGC		0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	15	0	0	0	1	0	15	15				
LYZL6	57151	broad.mit.edu	37	17	34266305	34266305	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34266305G>A	ENST00000585556.1	-	2	390	c.56C>T	c.(55-57)gCc>gTc	p.A19V	LYZL6_ENST00000293274.4_Missense_Mutation_p.A19V|LYZL6_ENST00000394523.3_Missense_Mutation_p.A19V|LYZL6_ENST00000492340.2_5'Flank			O75951	LYZL6_HUMAN	lysozyme-like 6	19					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATGAGGCTGGCCTGATTTAG	0.562																																						ENST00000585556.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(55-57)gCc>gTc		lysozyme-like 6							121.0	111.0	114.0					17																	34266305		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34266305G>A	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.56C>T	17.37:g.34266305G>A	ENSP00000468094:p.Ala19Val					LYZL6_ENST00000394523.3_Missense_Mutation_p.A19V|LYZL6_ENST00000293274.4_Missense_Mutation_p.A19V	p.A19V			O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	390	-			19					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.56C>T	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418424	0.62622	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.69926	-0.44;-0.44	5.29	1.95	0.26073	Lysozyme-like domain (1);	0.461581	0.20593	N	0.089320	T	0.81163	0.4765	M	0.91768	3.24	0.09310	N	1	D	0.69078	0.997	D	0.64776	0.929	T	0.70673	-0.4807	10	0.87932	D	0	-5.3268	8.0439	0.30538	0.0:0.344:0.4908:0.1652	.	19	O75951	LYZL6_HUMAN	V	19	ENSP00000293274:A19V;ENSP00000378031:A19V	ENSP00000293274:A19V	A	-	2	0	LYZL6	31290418	0.003000	0.15002	0.027000	0.17364	0.100000	0.18952	0.554000	0.23407	0.703000	0.31848	0.655000	0.94253	GCC		0.562	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		31	48	0	0	0	1	0	31	48				
FAM83C	128876	broad.mit.edu	37	20	33874706	33874706	+	Missense_Mutation	SNP	G	G	A	rs141772980		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33874706G>A	ENST00000374408.3	-	4	1972	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	626								p.R626W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCTGCCGCCGCTCATCTGGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18343	0.0		0.0	False		,,,				2504	0.001					ENST00000374408.3																			1	Substitution - Missense(1)	p.R626W(1)	urinary_tract(1)	central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1876-1878)Cgg>Tgg		family with sequence similarity 83, member C		G	TRP/ARG	0,4406		0,0,2203	47.0	46.0	46.0		1876	1.2	1.0	20	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM83C	NM_178468.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	626/748	33874706	1,13005	2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874706G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1876C>T	20.37:g.33874706G>A	ENSP00000363529:p.Arg626Trp						p.R626W	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1972	-			626					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1876C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884868	0.51908	0.0	1.16E-4	ENSG00000125998	ENST00000374408	T	0.15487	2.42	4.54	1.19	0.21007	.	0.655352	0.12655	N	0.450090	T	0.23727	0.0574	L	0.46157	1.445	0.29320	N	0.867402	D	0.76494	0.999	P	0.51945	0.685	T	0.15065	-1.0450	10	0.59425	D	0.04	-12.5281	11.404	0.49887	0.0:0.0:0.5415:0.4585	.	626	Q9BQN1	FA83C_HUMAN	W	626	ENSP00000363529:R626W	ENSP00000363529:R626W	R	-	1	2	FAM83C	33338120	0.000000	0.05858	0.981000	0.43875	0.766000	0.43426	-0.204000	0.09425	0.630000	0.30394	0.561000	0.74099	CGG		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			13	16	0	0	0	1	0	13	16				
MUC17	140453	broad.mit.edu	37	7	100683688	100683688	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100683688G>A	ENST00000306151.4	+	3	9055	c.8991G>A	c.(8989-8991)atG>atA	p.M2997I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2997	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCATGCCGGTGGCCA	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8989-8991)atG>atA		mucin 17, cell surface associated							251.0	263.0	259.0					7																	100683688		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683688G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8991G>A	7.37:g.100683688G>A	ENSP00000302716:p.Met2997Ile						p.M2997I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9055	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2997			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8991G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.959225	0.00465	.	.	ENSG00000169876	ENST00000306151	T	0.01787	4.64	.	.	.	.	.	.	.	.	T	0.00754	0.0025	N	0.03608	-0.345	0.09310	N	1	B	0.26512	0.151	B	0.17098	0.017	T	0.45264	-0.9273	7	0.33940	T	0.23	.	.	.	.	.	2997	Q685J3	MUC17_HUMAN	I	2997	ENSP00000302716:M2997I	ENSP00000302716:M2997I	M	+	3	0	MUC17	100470408	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.967000	0.01508	-1.505000	0.01807	-1.490000	0.00973	ATG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		113	134	0	0	0	1	0	113	134				
CACNA2D2	9254	broad.mit.edu	37	3	50404460	50404460	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50404460G>A	ENST00000479441.1	-	29	2502	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R828C|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.R835C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R828C|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R759C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R835C|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	835					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCAGTGTGCGCCTGCCTAGG	0.607																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2503-2505)Cgc>Tgc		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						66.0	64.0	64.0					3																	50404460		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50404460G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2503C>T	3.37:g.50404460G>A	ENSP00000418081:p.Arg835Cys					CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R759C|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R828C|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R835C|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R835C|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R828C|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R828C|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R828C|XXcos-LUCA11.4_ENST00000606259.1_RNA	p.R835C			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	29	2676	-			835					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2503C>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899302	0.72754	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.58	4.63	0.57726	.	0.056238	0.64402	D	0.000003	T	0.75162	0.3812	L	0.36672	1.1	0.50813	D	0.99989	D;D	0.64830	0.978;0.994	P;P	0.55667	0.608;0.781	T	0.77787	-0.2457	10	0.87932	D	0	-14.1541	13.0938	0.59180	0.0:0.0:0.7317:0.2683	.	835;828	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	C	835;828;828;759;835;828;828;835	ENSP00000407393:R835C;ENSP00000404631:R828C;ENSP00000266039:R828C;ENSP00000354228:R759C;ENSP00000390526:R835C;ENSP00000378519:R828C;ENSP00000390329:R828C;ENSP00000418081:R835C	ENSP00000266039:R828C	R	-	1	0	CACNA2D2	50379464	1.000000	0.71417	0.946000	0.38457	0.950000	0.60333	5.093000	0.64517	2.642000	0.89623	0.655000	0.94253	CGC		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		11	19	0	0	0	1	0	11	19				
ST3GAL3	6487	broad.mit.edu	37	1	44201956	44201956	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44201956G>A	ENST00000361392.4	+	2	200	c.23G>A	c.(22-24)cGc>cAc	p.R8H	ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	8					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GTATTTGTGCGCAATCTGCTG	0.413																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(22-24)cGc>cAc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							289.0	270.0	276.0					1																	44201956		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44201956G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.23G>A	1.37:g.44201956G>A	ENSP00000355341:p.Arg8His					ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H	p.R8H	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			2	200	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	8					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.23G>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205762	0.79127	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628;ENST00000531816	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80738	0.37;0.66;0.21;0.06;0.14;0.36;-0.38;-1.38;-1.39;0.02;-1.41;0.35;-1.38;-1.39;-1.36;0.02;0.21;-0.46;-0.4;-0.39;0.06;0.14;0.14;0.01;-0.38;0.36;-1.33	5.94	5.94	0.96194	.	0.272357	0.40728	N	0.001027	D	0.84392	0.5462	N	0.24115	0.695	0.53688	D	0.999978	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.989;0.984;0.984;0.984;0.994;0.984;0.984;0.984;0.993;0.996;0.984;0.989;0.984;0.989;0.964;0.996;0.989;0.964	D	0.83927	0.0304	10	0.42905	T	0.14	.	19.977	0.97313	0.0:0.0:1.0:0.0	.	8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8;8	Q11203-22;Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	H	8	ENSP00000355341:R8H;ENSP00000354748:R8H;ENSP00000262915:R8H;ENSP00000361450:R8H;ENSP00000316999:R8H;ENSP00000361449:R8H;ENSP00000330463:R8H;ENSP00000439634:R8H;ENSP00000333494:R8H;ENSP00000335633:R8H;ENSP00000361452:R8H;ENSP00000317192:R8H;ENSP00000355201:R8H;ENSP00000361437:R8H;ENSP00000435603:R8H;ENSP00000361444:R8H;ENSP00000354657:R8H;ENSP00000361442:R8H;ENSP00000361441:R8H;ENSP00000361440:R8H;ENSP00000361443:R8H;ENSP00000361447:R8H;ENSP00000434876:R8H;ENSP00000432682:R8H;ENSP00000432965:R8H;ENSP00000329755:R8H;ENSP00000434378:R8H	ENSP00000262915:R8H	R	+	2	0	ST3GAL3	43974543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.891000	0.75639	2.814000	0.96858	0.563000	0.77884	CGC		0.413	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		11	159	0	0	0	1	0	11	159				
ACTN2	88	broad.mit.edu	37	1	236900481	236900481	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236900481G>A	ENST00000366578.4	+	9	1009	c.843G>A	c.(841-843)agG>agA	p.R281R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.R281R|ACTN2_ENST00000546208.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	281					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGAATGAGAGGCTGATGGAAG	0.507																																						ENST00000546208.1																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.e3+1		actinin, alpha 2							118.0	107.0	110.0					1																	236900481		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236900481G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.843G>A	1.37:g.236900481G>A						ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000366578.4_Silent_p.R281R|ACTN2_ENST00000542672.1_Silent_p.R281R				P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	210	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)						B1ANE4|B2RCS5|Q86TF4|Q86TI8	Splice_Site	SNP	ENST00000366578.4	37		CCDS1613.1																																																																																				0.507	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		13	22	0	0	0	1	0	13	22				
KIAA1551	55196	broad.mit.edu	37	12	32138032	32138032	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32138032C>T	ENST00000312561.4	+	4	4557	c.4143C>T	c.(4141-4143)aaC>aaT	p.N1381N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1381																	ACCAAGGGAACGTATTAGATA	0.343																																						ENST00000312561.4																			0											c.(4141-4143)aaC>aaT		KIAA1551							65.0	68.0	67.0					12																	32138032		2202	4299	6501	SO:0001819	synonymous_variant	55196							g.chr12:32138032C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4143C>T	12.37:g.32138032C>T						KIAA1551_ENST00000535596.1_Intron	p.N1381N	NM_018169.3	NP_060639.3					4	4557	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.4143C>T	CCDS8725.2																																																																																				0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	42	0	0	0	1	0	5	42				
ANKRD52	283373	broad.mit.edu	37	12	56641862	56641862	+	Silent	SNP	G	G	A	rs377427428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56641862G>A	ENST00000267116.7	-	18	2044	c.1923C>T	c.(1921-1923)ggC>ggT	p.G641G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	641										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGGCAGAGGCGCCGTGGGCTG	0.627																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1921-1923)ggC>ggT		ankyrin repeat domain 52		G		1,4159		0,1,2079	35.0	40.0	38.0		1923	-2.3	1.0	12		38	0,8394		0,0,4197	no	coding-synonymous	ANKRD52	NM_173595.3		0,1,6276	AA,AG,GG		0.0,0.024,0.0080		641/1077	56641862	1,12553	2080	4197	6277	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56641862G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1923C>T	12.37:g.56641862G>A							p.G641G	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	2044	-			641					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1923C>T	CCDS44920.1																																																																																				0.627	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		13	21	0	0	0	1	0	13	21				
GNL2	29889	broad.mit.edu	37	1	38048477	38048477	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38048477G>A	ENST00000373062.3	-	7	795	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	233	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TGAGGGGAACGAGTACCCATT	0.393																																						ENST00000373062.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(697-699)Cgt>Tgt		guanine nucleotide binding protein-like 2 (nucleolar)							161.0	150.0	154.0					1																	38048477		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38048477G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.697C>T	1.37:g.38048477G>A	ENSP00000362153:p.Arg233Cys						p.R233C	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN			7	795	-		Myeloproliferative disorder(586;0.0393)	233					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.697C>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189937	0.94923	.	.	ENSG00000134697	ENST00000373062;ENST00000545489	T	0.15603	2.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73733	-0.3890	10	0.87932	D	0	-10.2933	20.205	0.98274	0.0:0.0:1.0:0.0	.	233	Q13823	NOG2_HUMAN	C	233;74	ENSP00000362153:R233C	ENSP00000362153:R233C	R	-	1	0	GNL2	37821064	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.822000	0.99363	2.777000	0.95525	0.591000	0.81541	CGT		0.393	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		23	36	0	0	0	1	0	23	36				
SORCS1	114815	broad.mit.edu	37	10	108432670	108432670	+	Missense_Mutation	SNP	G	G	A	rs143914023		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:108432670G>A	ENST00000263054.6	-	15	2021	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	SORCS1_ENST00000369698.1_Missense_Mutation_p.R207W|SORCS1_ENST00000344440.6_Missense_Mutation_p.R672W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	672					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCGGCACACCGTCTATCAAAA	0.488																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2014-2016)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	84.0	70.0	75.0		2014,2014,2014,2014,2014,2014	-0.1	0.8	10	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	672/1199,672/1180,672/1131,672/1160,672/1180,672/1169	108432670	1,13005	2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108432670G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2014C>T	10.37:g.108432670G>A	ENSP00000263054:p.Arg672Trp					SORCS1_ENST00000344440.6_Missense_Mutation_p.R672W|SORCS1_ENST00000369698.1_Missense_Mutation_p.R207W	p.R672W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	15	2021	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	672					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2014C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681592	0.68042	0.0	1.16E-4	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29917	1.55;1.55;1.55	5.47	-0.143	0.13444	VPS10 (1);	0.132411	0.49305	N	0.000151	T	0.47691	0.1459	M	0.67953	2.075	0.40136	D	0.976777	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.75484	0.968;0.978;0.986;0.968;0.986	T	0.42137	-0.9469	9	.	.	.	-6.2946	11.4184	0.49967	0.064:0.0:0.2926:0.6433	.	672;672;672;672;672	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	207;672;672	ENSP00000358712:R207W;ENSP00000263054:R672W;ENSP00000345964:R672W	.	R	-	1	2	SORCS1	108422660	0.134000	0.22483	0.849000	0.33467	0.991000	0.79684	0.199000	0.17237	-0.009000	0.14296	0.563000	0.77884	CGG		0.488	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	31	0	0	0	1	0	9	31				
MYOM2	9172	broad.mit.edu	37	8	2024280	2024280	+	Missense_Mutation	SNP	G	G	A	rs117189614	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2024280G>A	ENST00000262113.4	+	11	1321	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	394	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGCCACGACGCCAACCGGGA	0.597													G|||	24	0.00479233	0.0	0.0014	5008	,	,		13903	0.0218		0.0	False		,,,				2504	0.001					ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1180-1182)Gcc>Acc		myomesin 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	47.0	42.0	44.0		1180	5.4	0.4	8	dbSNP_132	44	0,8600		0,0,4300	yes	missense	MYOM2	NM_003970.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	394/1466	2024280	2,13004	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2024280G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1180G>A	8.37:g.2024280G>A	ENSP00000262113:p.Ala394Thr					MYOM2_ENST00000523438.1_Intron	p.A394T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	11	1321	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	394			Fibronectin type-III 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1180G>A	CCDS5957.1	17	0.007783882783882784	0	0.0	1	0.0027624309392265192	16	0.027972027972027972	0	0.0	G	19.28	3.797100	0.70567	4.54E-4	0.0	ENSG00000036448	ENST00000262113	T	0.56611	0.45	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.135903	0.49916	D	0.000131	T	0.32406	0.0828	L	0.41027	1.25	0.80722	D	1	D	0.56521	0.976	P	0.50896	0.653	T	0.49588	-0.8924	10	0.54805	T	0.06	.	19.1389	0.93439	0.0:0.0:1.0:0.0	.	394	P54296	MYOM2_HUMAN	T	394	ENSP00000262113:A394T	ENSP00000262113:A394T	A	+	1	0	MYOM2	2011687	0.999000	0.42202	0.375000	0.26029	0.359000	0.29487	5.109000	0.64615	2.509000	0.84616	0.655000	0.94253	GCC		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	13	0	0	0	1	0	7	13				
TUBA3C	7278	broad.mit.edu	37	13	19751146	19751146	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:19751146T>A	ENST00000400113.3	-	4	1081	c.977A>T	c.(976-978)aAa>aTa	p.K326I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	326					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTTGACATCTTTCGGGACCAC	0.542																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(976-978)aAa>aTa		tubulin, alpha 3c							158.0	130.0	140.0					13																	19751146		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751146T>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.977A>T	13.37:g.19751146T>A	ENSP00000382982:p.Lys326Ile						p.K326I	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	1081	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	326					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.977A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	12.47	1.946497	0.34377	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.86030	-2.06	1.21	1.21	0.21127	.	0.000000	0.49916	U	0.000136	D	0.85856	0.5794	.	.	.	0.41481	D	0.988169	.	.	.	.	.	.	D	0.84424	0.0573	7	0.87932	D	0	.	6.5532	0.22446	0.0:0.0:0.0:1.0	.	.	.	.	I	326	ENSP00000382982:K326I	ENSP00000354037:K326I	K	-	2	0	TUBA3C	18649146	1.000000	0.71417	0.969000	0.41365	0.662000	0.39071	6.473000	0.73572	0.809000	0.34255	0.155000	0.16302	AAA		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		18	71	0	0	0	1	0	18	71				
CENPJ	55835	broad.mit.edu	37	13	25486986	25486986	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25486986G>A	ENST00000381884.4	-	2	363	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.H60Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	60					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCAGAAAAATGTGTGCCTTTA	0.393																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(178-180)Cat>Tat		centromere protein J							114.0	116.0	115.0					13																	25486986		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486986G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.178C>T	13.37:g.25486986G>A	ENSP00000371308:p.His60Tyr					CENPJ_ENST00000545981.1_Missense_Mutation_p.H60Y	p.H60Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	363	-		Lung SC(185;0.0225)|Breast(139;0.0602)	60					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.178C>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	5.241	0.229937	0.09969	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.16897	2.31;2.31	5.28	-0.0798	0.13709	.	1.350010	0.04494	N	0.380152	T	0.20047	0.0482	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37526	-0.9702	10	0.66056	D	0.02	.	6.8348	0.23931	0.0742:0.3539:0.4627:0.1092	.	60	Q9HC77	CENPJ_HUMAN	Y	60	ENSP00000371308:H60Y;ENSP00000441090:H60Y	ENSP00000371308:H60Y	H	-	1	0	CENPJ	24384986	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.546000	0.23284	-0.014000	0.14175	0.655000	0.94253	CAT		0.393	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		29	55	0	0	0	1	0	29	55				
DTYMK	1841	broad.mit.edu	37	2	242625237	242625237	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242625237G>A	ENST00000305784.2	-	2	393	c.186C>T	c.(184-186)gaC>gaT	p.D62D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	62					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GATCCTCCACGTCACTTTTCT	0.438																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(184-186)gaC>gaT		deoxythymidylate kinase (thymidylate kinase)							177.0	167.0	171.0					2																	242625237		2203	4296	6499	SO:0001819	synonymous_variant	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625237G>A	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.186C>T	2.37:g.242625237G>A						DTYMK_ENST00000493095.1_5'UTR	p.D62D	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	393	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	62					B7ZW70|Q6FGX1|Q9BUX4	Silent	SNP	ENST00000305784.2	37	c.186C>T	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.074|0.074	-1.196311|-1.196311	0.01594|0.01594	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000445261|ENST00000420144	.|.	.|.	.|.	5.34|5.34	-10.7|-10.7	0.00240|0.00240	.|.	.|.	.|.	.|.	.|.	T|T	0.41789|0.41789	0.1174|0.1174	.|.	.|.	.|.	0.47407|0.47407	D|D	0.999419|0.999419	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53294|0.53294	-0.8459|-0.8459	4|4	.|.	.|.	.|.	-13.2689|-13.2689	5.4643|5.4643	0.16634|0.16634	0.1136:0.3825:0.3494:0.1546|0.1136:0.3825:0.3494:0.1546	.|.	.|.	.|.	.|.	C|M	39|19	.|.	.|.	R|T	-|-	1|2	0|0	DTYMK|DTYMK	242273910|242273910	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-0.979000|-0.979000	0.03774|0.03774	-3.315000|-3.315000	0.00189|0.00189	-2.057000|-2.057000	0.00402|0.00402	CGT|ACG		0.438	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		80	138	0	0	0	1	0	80	138				
MYO1F	4542	broad.mit.edu	37	19	8613157	8613157	+	Silent	SNP	G	G	A	rs542097693	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8613157G>A	ENST00000338257.8	-	11	1413	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	382	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCAGCACACCGATGCTGTACT	0.612													G|||	5	0.000998403	0.0	0.0	5008	,	,		15623	0.0		0.0	False		,,,				2504	0.0051					ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1144-1146)atC>atT		myosin IF							91.0	99.0	96.0					19																	8613157		2013	4187	6200	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8613157G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1146C>T	19.37:g.8613157G>A							p.I382I	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			11	1413	-			382			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1146C>T	CCDS42494.1																																																																																				0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			17	19	0	0	0	1	0	17	19				
ARHGAP35	2909	broad.mit.edu	37	19	47424426	47424426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47424426C>T	ENST00000404338.3	+	1	2494	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	832					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCACAAGAAGCGGATTGAACT	0.423																																						ENST00000404338.3																			0											c.(2494-2496)Cgg>Tgg		Rho GTPase activating protein 35							171.0	160.0	164.0					19																	47424426		1914	4122	6036	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424426C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2494C>T	19.37:g.47424426C>T	ENSP00000385720:p.Arg832Trp						p.R832W	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2494	+			832					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2494C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501574	0.64298	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.49	5.49	0.81192	.	0.207880	0.50627	D	0.000116	T	0.67183	0.2866	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.71870	0.975	T	0.68796	-0.5314	10	0.87932	D	0	-22.015	18.5057	0.90896	0.0:1.0:0.0:0.0	.	832	Q9NRY4-2	.	W	832	ENSP00000385720:R832W	ENSP00000324820:R832W	R	+	1	2	ARHGAP35	52116266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.930000	0.56522	2.743000	0.94032	0.655000	0.94253	CGG		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		30	56	0	0	0	1	0	30	56				
KLHL7	55975	broad.mit.edu	37	7	23205409	23205409	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:23205409C>T	ENST00000339077.5	+	8	1272	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	KLHL7_ENST00000542558.1_Silent_p.G118G|KLHL7_ENST00000409689.1_Silent_p.G295G|KLHL7_ENST00000545443.1_Silent_p.G321G|KLHL7_ENST00000539124.1_Silent_p.G267G|KLHL7_ENST00000322231.7_Silent_p.G321G	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	343					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTGGGAGGCTCTCAGCTTT	0.473																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(961-963)ggC>ggT		kelch-like family member 7							83.0	82.0	82.0					7																	23205409		2203	4300	6503	SO:0001819	synonymous_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205409C>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1029C>T	7.37:g.23205409C>T						KLHL7_ENST00000542558.1_Silent_p.G118G|KLHL7_ENST00000409689.1_Silent_p.G295G|KLHL7_ENST00000339077.4_Silent_p.G343G|KLHL7_ENST00000539124.1_Silent_p.G267G|KLHL7_ENST00000545443.1_Silent_p.G321G	p.G321G			Q8IXQ5	KLHL7_HUMAN			9	1453	+			343					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Silent	SNP	ENST00000339077.5	37	c.963C>T	CCDS34609.1																																																																																				0.473	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		11	41	0	0	0	1	0	11	41				
KCNH2	3757	broad.mit.edu	37	7	150643989	150643989	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150643989G>A	ENST00000262186.5	-	14	3707	c.3306C>T	c.(3304-3306)acC>acT	p.T1102T	KCNH2_ENST00000330883.4_Silent_p.T762T|KCNH2_ENST00000392968.2_Silent_p.T1006T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1102					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCAAGGTGAGGGTGGGGAGGG	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(3016-3018)acC>acT		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						59.0	54.0	56.0					7																	150643989		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150643989G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3306C>T	7.37:g.150643989G>A						KCNH2_ENST00000330883.4_Silent_p.T762T|KCNH2_ENST00000262186.5_Silent_p.T1102T	p.T1006T			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	4138	-	all_neural(206;0.219)		1102					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.3018C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	8.518	0.868032	0.17250	.	.	ENSG00000055118	ENST00000350328	.	.	.	4.89	-2.62	0.06152	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17410	-1.0370	5	0.16420	T	0.52	.	5.6583	0.17654	0.5257:0.0:0.3394:0.1349	.	.	.	.	S	379	.	ENSP00000309393:P379S	P	-	1	0	KCNH2	150274922	0.015000	0.18098	0.990000	0.47175	0.698000	0.40448	-1.008000	0.03663	-0.338000	0.08413	-0.439000	0.05793	CCT		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		27	36	0	0	0	1	0	27	36				
YJEFN3	374887	broad.mit.edu	37	19	19648259	19648259	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19648259C>T	ENST00000514277.4	+	7	864	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	YJEFN3_ENST00000436027.5_Missense_Mutation_p.P226S|CILP2_ENST00000291495.5_5'Flank|CILP2_ENST00000586018.1_5'Flank	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	276	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CAGGTTCGTGCCCGATGACGT	0.736																																						ENST00000514277.3																			0				NS(1)|breast(1)|lung(3)	5						c.(826-828)Ccc>Tcc		YjeF N-terminal domain containing 3							5.0	7.0	6.0					19																	19648259		1888	3960	5848	SO:0001583	missense	374887							g.chr19:19648259C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.826C>T	19.37:g.19648259C>T	ENSP00000426964:p.Pro276Ser					YJEFN3_ENST00000436027.4_Missense_Mutation_p.P226S	p.P276S	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN			7	861	+			276			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.826C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724597	0.89298	.	.	ENSG00000250067	ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139	T;T	0.51071	0.72;0.72	4.04	4.04	0.47022	YjeF-related protein, N-terminal (3);	0.288787	0.33217	U	0.005148	T	0.68100	0.2964	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.73503	-0.3962	10	0.72032	D	0.01	-0.6995	13.761	0.62966	0.0:1.0:0.0:0.0	.	226;276	A6XGL0-2;A6XGL0	.;YJEN3_HUMAN	S	276;226;276;226	ENSP00000398520:P226S;ENSP00000426964:P276S	ENSP00000380364:P276S	P	+	1	0	YJEFN3	19509259	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.370000	0.66144	1.830000	0.53286	0.306000	0.20318	CCC		0.736	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		8	7	0	0	0	1	0	8	7				
PCDH15	65217	broad.mit.edu	37	10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4882-4884)gCg>gTg		protocadherin-related 15							305.0	268.0	279.0					10																	55566511		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566511G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4883C>T	10.37:g.55566511G>A	ENSP00000363076:p.Ala1628Val	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	p.A1628V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5277	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4883C>T		.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805728	0.02819	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56444	0.46;0.51	6.02	3.15	0.36227	.	.	.	.	.	T	0.34861	0.0912	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20371	-1.0277	9	0.35671	T	0.21	.	7.552	0.27802	0.2017:0.1214:0.6769:0.0	.	1619;1625	C6ZEF7;C9J4F3	.;.	V	1628;1625;1621	ENSP00000363076:A1628V;ENSP00000410304:A1625V	ENSP00000363076:A1628V	A	-	2	0	PCDH15	55236517	0.059000	0.20769	0.000000	0.03702	0.004000	0.04260	2.582000	0.46085	0.424000	0.26061	-0.137000	0.14449	GCG		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		70	103	0	0	0	1	0	70	103				
C18orf8	29919	broad.mit.edu	37	18	21107861	21107861	+	Missense_Mutation	SNP	C	C	T	rs139487898		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21107861C>T	ENST00000269221.3	+	14	1402	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A383V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	431						lysosomal membrane (GO:0005765)		p.A431V(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)					CAGAGTTATGCGATGGTGAGT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18291	0.0		0.001	False		,,,				2504	0.0					ENST00000269221.3																			1	Substitution - Missense(1)	p.A431V(1)	endometrium(1)	endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1291-1293)gCg>gTg		chromosome 18 open reading frame 8		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	67.0	68.0		1292	3.5	0.0	18	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C18orf8	NM_013326.3	64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	431/658	21107861	5,13001	2203	4300	6503	SO:0001583	missense	29919							g.chr18:21107861C>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.1292C>T	18.37:g.21107861C>T	ENSP00000269221:p.Ala431Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.A383V	p.A431V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			14	1402	+	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)		431					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1292C>T	CCDS32803.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.518	0.463843	0.12402	2.27E-4	4.65E-4	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.34	3.49	0.39957	.	0.519778	0.22978	N	0.053352	T	0.26846	0.0657	L	0.40543	1.245	0.22156	N	0.999326	B;B	0.27229	0.172;0.031	B;B	0.18871	0.023;0.011	T	0.18335	-1.0340	9	0.12103	T	0.63	0.1741	6.9099	0.24329	0.1382:0.7123:0.0:0.1495	.	274;431	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	V	431;274;383;274	.	ENSP00000269221:A431V	A	+	2	0	C18orf8	19361859	0.936000	0.31750	0.007000	0.13788	0.012000	0.07955	2.327000	0.43858	0.690000	0.31570	0.655000	0.94253	GCG		0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		11	18	0	0	0	1	0	11	18				
PEX10	5192	broad.mit.edu	37	1	2340272	2340272	+	Silent	SNP	G	G	A	rs531987102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2340272G>A	ENST00000447513.2	-	3	287	c.219C>T	c.(217-219)taC>taT	p.Y73Y	PEX10_ENST00000507596.1_Silent_p.Y73Y|PEX10_ENST00000288774.3_Silent_p.Y73Y|PEX10_ENST00000515760.1_5'UTR	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	73					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGATGCTGACGTACTCCTCCC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18967	0.0		0.0	False		,,,				2504	0.001				GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(217-219)taC>taT		peroxisomal biogenesis factor 10							104.0	104.0	104.0					1																	2340272		2203	4300	6503	SO:0001819	synonymous_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2340272G>A	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.219C>T	1.37:g.2340272G>A						PEX10_ENST00000447513.2_Silent_p.Y73Y|PEX10_ENST00000507596.1_Silent_p.Y73Y|PEX10_ENST00000515760.1_5'UTR	p.Y73Y	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	3	246	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	73					B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	c.219C>T	CCDS44045.1																																																																																				0.672	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		9	21	0	0	0	1	0	9	21				
NLRP3	114548	broad.mit.edu	37	1	247582322	247582322	+	Missense_Mutation	SNP	G	G	A	rs537715421	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247582322G>A	ENST00000336119.3	+	1	972	c.226G>A	c.(226-228)Gct>Act	p.A76T	NLRP3_ENST00000391827.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366497.2_Missense_Mutation_p.A76T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A76T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A76T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	76	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGGATCTTCGCTGCGATCAA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		13507	0.002		0.0	False		,,,				2504	0.0					ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(226-228)Gct>Act		NLR family, pyrin domain containing 3							72.0	65.0	68.0					1																	247582322		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582322G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.226G>A	1.37:g.247582322G>A	ENSP00000337383:p.Ala76Thr					NLRP3_ENST00000391828.3_Missense_Mutation_p.A76T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.A76T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A76T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A76T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A76T	p.A76T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	1006	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	76			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.226G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344371	0.24339	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.49	1.26	0.21427	Pyrin (2);DEATH-like (2);	0.898686	0.09463	N	0.798719	T	0.30916	0.0780	L	0.43152	1.355	0.09310	N	1	P;B;B;B;B	0.35139	0.486;0.139;0.249;0.383;0.088	B;B;B;B;B	0.27076	0.076;0.021;0.018;0.011;0.021	T	0.18681	-1.0329	10	0.33940	T	0.23	.	2.1707	0.03848	0.1177:0.1932:0.4903:0.1988	.	76;76;76;76;76	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	76	ENSP00000375704:A76T;ENSP00000355453:A76T;ENSP00000337383:A76T;ENSP00000294752:A76T;ENSP00000355452:A76T;ENSP00000375703:A76T	ENSP00000337383:A76T	A	+	1	0	NLRP3	245648945	0.001000	0.12720	0.010000	0.14722	0.848000	0.48234	0.365000	0.20348	0.158000	0.19367	0.561000	0.74099	GCT		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	15	0	0	0	1	0	8	15				
RIMKLB	57494	broad.mit.edu	37	12	8906616	8906616	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8906616C>T	ENST00000538135.1	+	5	1449	c.624C>T	c.(622-624)gtC>gtT	p.V208V	RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Silent_p.V208V			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	208	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTCATTGTCGTGGGAGGCC	0.443																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(622-624)gtC>gtT		ribosomal modification protein rimK-like family member B							190.0	172.0	178.0					12																	8906616		1948	4148	6096	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906616C>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.624C>T	12.37:g.8906616C>T						RIMKLB_ENST00000535829.1_Silent_p.V208V|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.V208V	p.V208V	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			6	1886	+			208			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.624C>T	CCDS41748.1																																																																																				0.443	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		34	52	0	0	0	1	0	34	52				
HECTD4	283450	broad.mit.edu	37	12	112616740	112616740	+	Silent	SNP	G	G	A	rs547829141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112616740G>A	ENST00000430131.2	-	63	11237	c.10092C>T	c.(10090-10092)agC>agT	p.S3364S	HECTD4_ENST00000550722.1_Silent_p.S3640S|HECTD4_ENST00000377560.5_Silent_p.S3614S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3364					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGCACCTGACGCTGTTGAGCA	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16277	0.001		0.0	False		,,,				2504	0.0					ENST00000550722.1																			0											c.(10918-10920)agC>agT		HECT domain containing E3 ubiquitin protein ligase 4							22.0	25.0	24.0					12																	112616740		2032	4194	6226	SO:0001819	synonymous_variant	283450							g.chr12:112616740G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10092C>T	12.37:g.112616740G>A						HECTD4_ENST00000377560.5_Silent_p.S3614S|HECTD4_ENST00000430131.2_Silent_p.S3364S	p.S3640S	NM_001109662.3	NP_001103132.3					64	11315	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10920C>T																																																																																					0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	11	0	0	0	1	0	12	11				
PTPRA	5786	broad.mit.edu	37	20	3007406	3007406	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3007406G>A	ENST00000216877.6	+	17	2061	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	PTPRA_ENST00000399903.2_Missense_Mutation_p.R563H|PTPRA_ENST00000318266.5_Missense_Mutation_p.R554H|PTPRA_ENST00000425918.2_Missense_Mutation_p.R574H|PTPRA_ENST00000380393.3_Missense_Mutation_p.R563H|PTPRA_ENST00000356147.3_Missense_Mutation_p.R554H|PTPRA_ENST00000358719.4_Missense_Mutation_p.R419H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	563	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGAACCGTGTTTTACAG	0.473																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1660-1662)cGt>cAt		protein tyrosine phosphatase, receptor type, A							109.0	79.0	89.0					20																	3007406		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:3007406G>A		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1661G>A	20.37:g.3007406G>A	ENSP00000216877:p.Arg554His					PTPRA_ENST00000399903.2_Missense_Mutation_p.R563H|PTPRA_ENST00000425918.2_Missense_Mutation_p.R574H|PTPRA_ENST00000380393.3_Missense_Mutation_p.R563H|PTPRA_ENST00000356147.3_Missense_Mutation_p.R554H|PTPRA_ENST00000358719.4_Missense_Mutation_p.R419H|PTPRA_ENST00000318266.5_Missense_Mutation_p.R554H	p.R554H	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			17	2061	+			563			Tyrosine-protein phosphatase 2.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.1661G>A	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136625	0.77662	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000001	T	0.79441	0.4446	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89149	0.3522	10	0.87932	D	0	.	19.2769	0.94034	0.0:0.0:1.0:0.0	.	574;563;554	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	H	563;554;563;419;173;574;554;554	ENSP00000369756:R563H;ENSP00000216877:R554H;ENSP00000382787:R563H;ENSP00000351559:R419H;ENSP00000393553:R574H;ENSP00000314568:R554H;ENSP00000348468:R554H	ENSP00000216877:R554H	R	+	2	0	PTPRA	2955406	1.000000	0.71417	0.968000	0.41197	0.189000	0.23516	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	CGT		0.473	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			17	15	0	0	0	1	0	17	15				
CHRM3	1131	broad.mit.edu	37	1	240070781	240070781	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240070781G>A	ENST00000255380.4	+	5	809	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	10					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAACCTCGCCTTTGTTTC	0.483																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(28-30)tcG>tcA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						75.0	69.0	71.0					1																	240070781		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070781G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.30G>A	1.37:g.240070781G>A							p.S10S	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	809	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	10					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.30G>A	CCDS1616.1																																																																																				0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		16	36	0	0	0	1	0	16	36				
LIG4	3981	broad.mit.edu	37	13	108862959	108862959	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108862959C>T	ENST00000356922.4	-	2	930	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LIG4_ENST00000405925.1_Missense_Mutation_p.D220N|LIG4_ENST00000442234.1_Missense_Mutation_p.D220N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	220					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCCAGATCTGTAGTGACA	0.358								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(658-660)Gat>Aat	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							56.0	54.0	55.0					13																	108862959		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862959C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.658G>A	13.37:g.108862959C>T	ENSP00000349393:p.Asp220Asn					LIG4_ENST00000405925.1_Missense_Mutation_p.D220N|LIG4_ENST00000442234.1_Missense_Mutation_p.D220N	p.D220N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	930	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		220					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.658G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194593	0.22037	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.85773	-2.03;-2.03;-2.03	5.68	4.84	0.62591	DNA ligase, ATP-dependent, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	L	0.45051	1.395	0.80722	D	1	P	0.40250	0.709	P	0.44897	0.463	T	0.78513	-0.2175	10	0.19590	T	0.45	.	13.6837	0.62502	0.0:0.9261:0.0:0.0739	.	220	P49917	DNLI4_HUMAN	N	220	ENSP00000385955:D220N;ENSP00000402030:D220N;ENSP00000349393:D220N	ENSP00000349393:D220N	D	-	1	0	LIG4	107660960	1.000000	0.71417	0.957000	0.39632	0.848000	0.48234	7.424000	0.80242	1.412000	0.46977	0.643000	0.83706	GAT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	51	0	0	0	1	0	26	51				
ERICH3	127254	broad.mit.edu	37	1	75102123	75102123	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75102123C>T	ENST00000326665.5	-	6	663		c.e6-1		C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN												NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGGGGCTGTCTAGACAATTA	0.393																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.e6-1		chromosome 1 open reading frame 173							161.0	170.0	167.0					1																	75102123		2203	4300	6503	SO:0001630	splice_region_variant	127254							g.chr1:75102123C>T																												ENST00000326665.5:c.445-1G>A	1.37:g.75102123C>T								NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			6	663	-								Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Splice_Site	SNP	ENST00000326665.5	37		CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637383	0.67130	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2066	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf173	74874711	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.632000	0.54287	2.661000	0.90470	0.557000	0.71058	.		0.393	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		Intron	55	100	0	0	0	1	0	55	100				
WNT1	7471	broad.mit.edu	37	12	49375049	49375049	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49375049C>T	ENST00000293549.3	+	4	775	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	247					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CGATGTGCTGCGCGACCGCTT	0.731																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(739-741)Cgc>Tgc		wingless-type MMTV integration site family, member 1							14.0	13.0	13.0					12																	49375049		2192	4285	6477	SO:0001583	missense	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49375049C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.739C>T	12.37:g.49375049C>T	ENSP00000293549:p.Arg247Cys						p.R247C	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	4	775	+			247					Q5U0N2	Missense_Mutation	SNP	ENST00000293549.3	37	c.739C>T	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298588	0.81025	.	.	ENSG00000125084	ENST00000293549;ENST00000380414	T	0.77098	-1.07	4.3	4.3	0.51218	.	0.069237	0.56097	D	0.000023	T	0.81931	0.4927	M	0.68593	2.085	0.51233	D	0.999914	D	0.67145	0.996	P	0.54815	0.761	D	0.84128	0.0410	10	0.87932	D	0	.	11.8305	0.52293	0.1758:0.8242:0.0:0.0	.	247	P04628	WNT1_HUMAN	C	247;83	ENSP00000293549:R247C	ENSP00000293549:R247C	R	+	1	0	WNT1	47661316	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.296000	0.59055	2.397000	0.81536	0.561000	0.74099	CGC		0.731	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			4	4	0	0	0	1	0	4	4				
REG4	83998	broad.mit.edu	37	1	120342445	120342445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120342445G>A	ENST00000354219.1	-	5	645	c.206C>T	c.(205-207)tCt>tTt	p.S69F	REG4_ENST00000256585.5_Missense_Mutation_p.S69F|REG4_ENST00000530654.1_Missense_Mutation_p.S69F	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ACTCAGGATAGATGCCAGGTG	0.502																																						ENST00000354219.1																			0				central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15						c.(205-207)tCt>tTt		regenerating islet-derived family, member 4							217.0	200.0	206.0					1																	120342445		2203	4300	6503	SO:0001583	missense	83998					extracellular region	sugar binding	g.chr1:120342445G>A	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.206C>T	1.37:g.120342445G>A	ENSP00000346158:p.Ser69Phe					REG4_ENST00000530654.1_Missense_Mutation_p.S69F|REG4_ENST00000256585.5_Missense_Mutation_p.S69F	p.S69F	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	5	645	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	69			C-type lectin.		Q8NER6|Q8NER7	Missense_Mutation	SNP	ENST00000354219.1	37	c.206C>T	CCDS906.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470126	0.63625	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654	T;T;T	0.21734	2.79;2.79;1.99	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.094775	0.45606	D	0.000357	T	0.45895	0.1365	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54997	-0.8209	10	0.87932	D	0	-27.9814	13.4695	0.61273	0.0:0.0:1.0:0.0	.	69	Q9BYZ8	REG4_HUMAN	F	69	ENSP00000346158:S69F;ENSP00000256585:S69F;ENSP00000437135:S69F	ENSP00000256585:S69F	S	-	2	0	REG4	120143968	0.766000	0.28496	0.085000	0.20634	0.006000	0.05464	4.033000	0.57282	2.551000	0.86045	0.650000	0.86243	TCT		0.502	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		65	85	0	0	0	1	0	65	85				
PHF10	55274	broad.mit.edu	37	6	170105319	170105319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170105319G>A	ENST00000339209.4	-	11	1444	c.1321C>T	c.(1321-1323)Caa>Taa	p.Q441*	C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Nonsense_Mutation_p.Q439*	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	441					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGGTGGGGTTGTCCACATATA	0.408																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(1321-1323)Caa>Taa		PHD finger protein 10							188.0	157.0	168.0					6																	170105319		2203	4300	6503	SO:0001587	stop_gained	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170105319G>A	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1321C>T	6.37:g.170105319G>A	ENSP00000341805:p.Gln441*					C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Nonsense_Mutation_p.Q439*	p.Q441*	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	11	1444	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	441					Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Nonsense_Mutation	SNP	ENST00000339209.4	37	c.1321C>T	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	37	6.129540	0.97310	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	.	.	.	5.97	5.97	0.96955	.	0.048522	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-23.3796	19.4161	0.94700	0.0:0.0:1.0:0.0	.	.	.	.	X	439;441	.	ENSP00000341805:Q441X	Q	-	1	0	PHF10	169847244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.172000	0.94808	2.837000	0.97791	0.655000	0.94253	CAA		0.408	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		25	28	0	0	0	1	0	25	28				
MTCL1	23255	broad.mit.edu	37	18	8825585	8825585	+	Silent	SNP	G	G	A	rs148473485		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8825585G>A	ENST00000306329.11	+	13	5034	c.5034G>A	c.(5032-5034)tcG>tcA	p.S1678S	SOGA2_ENST00000518815.1_Silent_p.S684S|SOGA2_ENST00000306285.7_Silent_p.S684S|SOGA2_ENST00000400050.3_Silent_p.S1318S|SOGA2_ENST00000359865.3_Silent_p.S1359S|SOGA2_ENST00000517570.1_Silent_p.S1318S																							CACCCGTGTCGTCTCCTTCCC	0.622																																						ENST00000359865.3																			0											c.(4075-4077)tcG>tcA		SOGA family member 2		G		0,4406		0,0,2203	31.0	29.0	30.0		4077	-7.8	0.8	18	dbSNP_134	30	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CCDC165	NM_015210.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		1359/1587	8825585	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8825585G>A																												ENST00000306329.11:c.5034G>A	18.37:g.8825585G>A						SOGA2_ENST00000400050.3_Silent_p.S1318S|SOGA2_ENST00000306329.11_Silent_p.S1678S|SOGA2_ENST00000518815.1_Silent_p.S684S|SOGA2_ENST00000306285.7_Silent_p.S684S|SOGA2_ENST00000517570.1_Silent_p.S1318S	p.S1359S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	4219	+			1669						Silent	SNP	ENST00000306329.11	37	c.4077G>A																																																																																					0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			16	20	0	0	0	1	0	16	20				
ZNF416	55659	broad.mit.edu	37	19	58084040	58084040	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58084040T>G	ENST00000196489.3	-	4	1454	c.1232A>C	c.(1231-1233)gAg>gCg	p.E411A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGGCCACACTCATAAGGCCT	0.463																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1231-1233)gAg>gCg		zinc finger protein 416							107.0	97.0	100.0					19																	58084040		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084040T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1232A>C	19.37:g.58084040T>G	ENSP00000196489:p.Glu411Ala						p.E411A	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1454	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	411					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1232A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923938	0.34002	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.21932	1.98	3.86	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	N	0.17674	0.51	0.19300	N	0.999974	P	0.38551	0.636	B	0.39876	0.312	T	0.15723	-1.0427	9	0.56958	D	0.05	.	4.4105	0.11431	0.2004:0.0:0.2074:0.5922	.	411	Q9BWM5	ZN416_HUMAN	A	411;370;309	ENSP00000196489:E411A	ENSP00000196489:E411A	E	-	2	0	ZNF416	62775852	0.000000	0.05858	0.985000	0.45067	0.983000	0.72400	-1.733000	0.01850	0.596000	0.29794	0.533000	0.62120	GAG		0.463	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		32	57	0	0	0	1	0	32	57				
HEMK1	51409	broad.mit.edu	37	3	50609161	50609161	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50609161A>G	ENST00000232854.4	+	3	801	c.249A>G	c.(247-249)gcA>gcG	p.A83A	HEMK1_ENST00000455834.1_Silent_p.A83A|C3orf18_ENST00000449241.1_5'Flank|HEMK1_ENST00000434410.1_Silent_p.A83A	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	83					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGAGGCCGGCACTTTGGACCC	0.567											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000232854.4																			0				lung(3)	3						c.(247-249)gcA>gcG		HemK methyltransferase family member 1							124.0	133.0	130.0					3																	50609161		2203	4300	6503	SO:0001819	synonymous_variant	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50609161A>G	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.249A>G	3.37:g.50609161A>G			OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	HEMK1_ENST00000434410.1_Silent_p.A83A|HEMK1_ENST00000455834.1_Silent_p.A83A	p.A83A	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	3	801	+			83						Silent	SNP	ENST00000232854.4	37	c.249A>G	CCDS2830.1																																																																																				0.567	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		40	68	0	0	0	1	0	40	68				
VPS53	55275	broad.mit.edu	37	17	526807	526807	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:526807C>T	ENST00000571805.1	-	11	1218	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.R361H|VPS53_ENST00000446250.2_Missense_Mutation_p.R163H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.R332H|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	361					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCCGGAGAAGCGTTTTGCAAG	0.488																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1081-1083)cGc>cAc		vacuolar protein sorting 53 homolog (S. cerevisiae)							104.0	97.0	100.0					17																	526807		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:526807C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1082G>A	17.37:g.526807C>T	ENSP00000459312:p.Arg361His					VPS53_ENST00000571805.1_Missense_Mutation_p.R361H|VPS53_ENST00000291074.5_Missense_Mutation_p.R332H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.R163H	p.R361H	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	11	1228	-			361					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1082G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.435737	0.96168	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.42131	0.98;0.98;0.98;1.16	5.7	5.7	0.88788	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.987;0.987;0.992;0.987	T	0.76838	-0.2811	10	0.87932	D	0	-17.199	18.8293	0.92132	0.0:1.0:0.0:0.0	.	361;163;361;332	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	H	361;163;332;313	ENSP00000401435:R361H;ENSP00000394386:R163H;ENSP00000291074:R332H;ENSP00000373692:R313H	ENSP00000291074:R332H	R	-	2	0	VPS53	473557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.783000	0.68982	2.683000	0.91414	0.655000	0.94253	CGC		0.488	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		11	43	0	0	0	1	0	11	43				
TRPV3	162514	broad.mit.edu	37	17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3427532C>T	ENST00000576742.1	-	13	2024	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000301365.4_Missense_Mutation_p.G568D	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1702-1704)gGt>gAt		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						147.0	138.0	141.0					17																	3427532		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3427532C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1703G>A	17.37:g.3427532C>T	ENSP00000461518:p.Gly568Asp					TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D	p.G568D			Q8NET8	TRPV3_HUMAN			13	1834	-			568					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1703G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632416	0.87660	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.90620	-2.7	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.95749	0.8617	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;1.0;0.999;0.999	D	0.96247	0.9180	10	0.87932	D	0	-13.4347	17.7887	0.88546	0.0:1.0:0.0:0.0	.	552;552;568;552;568;568;568	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	D	568;568;552	ENSP00000301365:G568D	ENSP00000301365:G568D	G	-	2	0	TRPV3	3374282	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	7.410000	0.80065	2.634000	0.89283	0.563000	0.77884	GGT		0.587	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		29	68	0	0	0	1	0	29	68				
ALG9	79796	broad.mit.edu	37	11	111657126	111657126	+	Missense_Mutation	SNP	C	C	A	rs590073		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111657126C>A	ENST00000531154.1	-	15	1811	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	ALG9_ENST00000398006.2_Missense_Mutation_p.G440C|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	611					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGTTGCTAACCTCCACTTTTC	0.453																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1318-1320)Ggt>Tgt		ALG9, alpha-1,2-mannosyltransferase							274.0	270.0	272.0					11																	111657126		1993	4164	6157	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111657126C>A		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1339G>T	11.37:g.111657126C>A	ENSP00000435517:p.Gly447Cys					ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.G447C|ALG9_ENST00000524880.1_3'UTR	p.G440C	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	15	2226	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-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)	611					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	c.1318G>T	CCDS41714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.054071|4.054071	0.75960|0.75960	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000532425|ENST00000531154;ENST00000398006;ENST00000428306	.|T;T	.|0.15603	.|2.41;2.41	5.87|5.87	4.96|4.96	0.65561|0.65561	.|.	.|0.225948	.|0.45126	.|D	.|0.000393	T|T	0.28632|0.28632	0.0709|0.0709	L|L	0.36672|0.36672	1.1|1.1	0.42570|0.42570	D|D	0.993178|0.993178	.|D;D	.|0.69078	.|0.997;0.995	.|P;P	.|0.62560	.|0.904;0.804	T|T	0.03157|0.03157	-1.1066|-1.1066	5|10	.|0.87932	.|D	.|0	.|.	12.8534|12.8534	0.57871|0.57871	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	.|618;611	.|Q9H6U8-3;Q9H6U8	.|.;ALG9_HUMAN	D|C	195|447;440;844	.|ENSP00000435517:G447C;ENSP00000381090:G440C	.|ENSP00000381090:G440C	E|G	-|-	3|1	2|0	ALG9|ALG9	111162336|111162336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.731000|3.731000	0.55013|0.55013	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	GAG|GGT		0.453	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		41	90	1	0	3.54561e-26	1	3.96178e-26	41	90				
JMJD1C	221037	broad.mit.edu	37	10	64952885	64952885	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64952885A>G	ENST00000399262.2	-	16	6107	c.5889T>C	c.(5887-5889)agT>agC	p.S1963S	JMJD1C_ENST00000542921.1_Silent_p.S1781S|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1963					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTTTATTACTGTGATTAA	0.353																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5887-5889)agT>agC		jumonji domain containing 1C							73.0	65.0	68.0					10																	64952885		1854	4099	5953	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952885A>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5889T>C	10.37:g.64952885A>G						JMJD1C_ENST00000542921.1_Silent_p.S1781S|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_3'UTR	p.S1963S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6107	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1963					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.5889T>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	7.171	0.587673	0.13812	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.67	3.32	0.38043	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49908	-0.8889	4	.	.	.	-1.8043	7.5151	0.27596	0.8036:0.0:0.0695:0.1269	.	.	.	.	A	510	.	.	V	-	2	0	JMJD1C	64622891	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.725000	0.54970	0.416000	0.25844	-0.336000	0.08194	GTA		0.353	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		20	34	0	0	0	1	0	20	34				
CCDC159	126075	broad.mit.edu	37	19	11464166	11464166	+	Missense_Mutation	SNP	G	G	A	rs550009750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11464166G>A	ENST00000588790.1	+	10	1054	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.A203T|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	318										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGACAGCCGCCTGTCCGGA	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16548	0.0		0.0	False		,,,				2504	0.0					ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(607-609)Gcc>Acc		coiled-coil domain containing 159							20.0	23.0	22.0					19																	11464166		1998	4174	6172	SO:0001583	missense	126075							g.chr19:11464166G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.607G>A	19.37:g.11464166G>A	ENSP00000468232:p.Ala203Thr					CCDC159_ENST00000458408.1_Missense_Mutation_p.A203T	p.A203T			P0C7I6	CC159_HUMAN			10	1054	+			318					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.607G>A	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275810	0.23307	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44482	0.92	3.7	-5.13	0.02884	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	1	P;B	0.37398	0.593;0.005	B;B	0.28465	0.09;0.001	T	0.24512	-1.0158	9	0.15499	T	0.54	.	0.7529	0.00994	0.2775:0.1401:0.1406:0.4418	.	318;203	P0C7I6;P0C7I6-2	CC159_HUMAN;.	T	203;318	ENSP00000402239:A203T	ENSP00000390400:A318T	A	+	1	0	CCDC159	11325166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.157000	0.10085	-0.977000	0.03537	-0.258000	0.10820	GCC		0.547	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		4	3	0	0	0	1	0	4	3				
GBA2	57704	broad.mit.edu	37	9	35740294	35740294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35740294G>A	ENST00000378103.3	-	7	1718	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Nonsense_Mutation_p.R399*|GBA2_ENST00000545786.1_Nonsense_Mutation_p.R405*	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	399					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCGAGGTCGCAACTTGCTG	0.552																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1195-1197)Cga>Tga		glucosidase, beta (bile acid) 2							61.0	54.0	56.0					9																	35740294		2203	4300	6503	SO:0001587	stop_gained	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35740294G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1195C>T	9.37:g.35740294G>A	ENSP00000367343:p.Arg399*					GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Nonsense_Mutation_p.R399*|GBA2_ENST00000545786.1_Nonsense_Mutation_p.R405*	p.R399*			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	1708	-	all_epithelial(49;0.167)		399					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Nonsense_Mutation	SNP	ENST00000378103.3	37	c.1195C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	41	8.906868	0.98998	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.6	3.75	0.43078	.	0.503444	0.23396	N	0.048623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.7864	11.8012	0.52128	0.1463:0.0:0.8537:0.0	.	.	.	.	X	399;399;405	.	ENSP00000367334:R399X	R	-	1	2	GBA2	35730294	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	1.243000	0.32767	0.824000	0.34613	0.650000	0.86243	CGA		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		18	23	0	0	0	1	0	18	23				
MC5R	4161	broad.mit.edu	37	18	13826321	13826321	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13826321T>C	ENST00000324750.3	+	1	779	c.557T>C	c.(556-558)gTc>gCc	p.V186A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	186					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCACCTACGTCATCCTGTGC	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(556-558)gTc>gCc		melanocortin 5 receptor							569.0	481.0	511.0					18																	13826321		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826321T>C	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.557T>C	18.37:g.13826321T>C	ENSP00000318077:p.Val186Ala						p.V186A	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	779	+			186					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.557T>C	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319325	0.41096	.	.	ENSG00000176136	ENST00000324750	T	0.38240	1.15	5.01	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.54965	1.715	0.58432	D	0.999997	P	0.47604	0.898	P	0.51415	0.669	T	0.32107	-0.9919	10	0.66056	D	0.02	.	10.0331	0.42111	0.0:0.0813:0.0:0.9187	.	186	P33032	MC5R_HUMAN	A	186	ENSP00000318077:V186A	ENSP00000318077:V186A	V	+	2	0	MC5R	13816321	1.000000	0.71417	0.004000	0.12327	0.187000	0.23431	5.897000	0.69831	0.728000	0.32382	0.374000	0.22700	GTC		0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		19	375	0	0	0	1	0	19	375				
TMX2	51075	broad.mit.edu	37	11	57505473	57505473	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57505473C>T	ENST00000278422.4	+	3	351	c.339C>T	c.(337-339)ggC>ggT	p.G113G	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	113					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTCGCATGGGCCTACTTTACA	0.393																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(337-339)ggC>ggT		thioredoxin-related transmembrane protein 2							155.0	141.0	146.0					11																	57505473		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505473C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.339C>T	11.37:g.57505473C>T						TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	p.G113G	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			3	351	+			113					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.339C>T	CCDS7967.1																																																																																				0.393	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		48	52	0	0	0	1	0	48	52				
KRI1	65095	broad.mit.edu	37	19	10670333	10670333	+	Missense_Mutation	SNP	G	G	A	rs374175757		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10670333G>A	ENST00000312962.6	-	11	1016	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.R329C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	327	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTTCTGCGCTCATCCTTA	0.617																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(997-999)Cgc>Tgc		KRI1 homolog (S. cerevisiae)		G	CYS/ARG	0,4406		0,0,2203	94.0	93.0	93.0		997	5.1	1.0	19		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRI1	NM_023008.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	333/710	10670333	1,13005	2203	4300	6503	SO:0001583	missense	65095							g.chr19:10670333G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.997C>T	19.37:g.10670333G>A	ENSP00000320917:p.Arg333Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R329C	p.R333C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		11	1016	-			333			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.997C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877687	0.72294	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09445	3.15;2.98	5.11	5.11	0.69529	.	0.238369	0.41294	D	0.000914	T	0.34978	0.0916	M	0.79475	2.455	0.45621	D	0.998554	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.95	T	0.11421	-1.0588	10	0.62326	D	0.03	-23.54	17.2887	0.87149	0.0:0.0:1.0:0.0	.	333;329	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	333;329;333	ENSP00000320917:R333C;ENSP00000355366:R329C	ENSP00000320917:R333C	R	-	1	0	KRI1	10531333	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.106000	0.41835	2.370000	0.80446	0.591000	0.81541	CGC		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		16	24	0	0	0	1	0	16	24				
SUPT5H	6829	broad.mit.edu	37	19	39962264	39962264	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39962264G>A	ENST00000599117.1	+	21	2211	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R611H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R615H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R611H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R615H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	615	KOW 4.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGAGATTCGCCATCTCTTC	0.577																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1843-1845)cGc>cAc		suppressor of Ty 5 homolog (S. cerevisiae)							51.0	54.0	53.0					19																	39962264		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39962264G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1844G>A	19.37:g.39962264G>A	ENSP00000470252:p.Arg615His					SUPT5H_ENST00000432763.2_Missense_Mutation_p.R615H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R615H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R611H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R611H	p.R615H			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		21	2211	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		615			KOW 4.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1844G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559311	0.86335	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.42	5.42	0.78866	KOW (1);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.981;0.998;0.993	P;P;P	0.59703	0.54;0.862;0.731	T	0.59595	-0.7425	8	.	.	.	-18.8327	17.9916	0.89171	0.0:0.0:1.0:0.0	.	407;611;615	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	615;611;593;615	.	.	R	+	2	0	SUPT5H	44654104	1.000000	0.71417	0.981000	0.43875	0.482000	0.33219	9.554000	0.98121	2.516000	0.84829	0.563000	0.77884	CGC		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		24	16	0	0	0	1	0	24	16				
KIF21A	55605	broad.mit.edu	37	12	39711940	39711940	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39711940A>G	ENST00000361418.5	-	29	3858	c.3843T>C	c.(3841-3843)cgT>cgC	p.R1281R	KIF21A_ENST00000361961.3_Silent_p.R1268R|KIF21A_ENST00000544797.2_Silent_p.R1261R|KIF21A_ENST00000541463.2_Silent_p.R1245R|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000395670.3_Silent_p.R1281R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1281					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGTTCATTACGGGGCCGGC	0.403																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3841-3843)cgT>cgC		kinesin family member 21A							75.0	81.0	79.0					12																	39711940		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39711940A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3843T>C	12.37:g.39711940A>G						KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000544797.2_Silent_p.R1261R|KIF21A_ENST00000541463.2_Silent_p.R1245R|KIF21A_ENST00000361418.5_Silent_p.R1281R|KIF21A_ENST00000361961.3_Silent_p.R1268R	p.R1281R			Q7Z4S6	KI21A_HUMAN			28	4262	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1281					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.3843T>C	CCDS53776.1																																																																																				0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		25	34	0	0	0	1	0	25	34				
PANK1	53354	broad.mit.edu	37	10	91371602	91371602	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91371602G>A	ENST00000307534.4	-	2	1062	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PANK1_ENST00000371774.2_Missense_Mutation_p.R105C|PANK1_ENST00000342512.3_Missense_Mutation_p.R78C|PANK1_ENST00000322191.6_Missense_Mutation_p.R78C	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	303					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTCCCTTTGCGTCCACACATG	0.502																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(907-909)Cgc>Tgc		pantothenate kinase 1	Bezafibrate(DB01393)						109.0	95.0	100.0					10																	91371602		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371602G>A	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.907C>T	10.37:g.91371602G>A	ENSP00000302108:p.Arg303Cys					PANK1_ENST00000322191.6_Missense_Mutation_p.R78C|PANK1_ENST00000371774.2_Missense_Mutation_p.R105C|PANK1_ENST00000342512.3_Missense_Mutation_p.R78C	p.R303C	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			2	1062	-			303					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.907C>T	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393971	0.83011	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.977;0.997	D	0.98421	1.0577	10	0.62326	D	0.03	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	105;303;78;78	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	C	78;78;105;303;166	ENSP00000345118:R78C;ENSP00000318526:R78C;ENSP00000360839:R105C;ENSP00000302108:R303C	ENSP00000302108:R303C	R	-	1	0	PANK1	91361582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.534000	0.60622	2.906000	0.99361	0.655000	0.94253	CGC		0.502	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				8	47	0	0	0	1	0	8	47				
FLII	2314	broad.mit.edu	37	17	18148550	18148550	+	Missense_Mutation	SNP	G	G	A	rs138406094	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18148550G>A	ENST00000327031.4	-	30	3937	c.3712C>T	c.(3712-3714)Cgg>Tgg	p.R1238W	FLII_ENST00000379450.4_Missense_Mutation_p.R1152W|FLII_ENST00000579294.1_Missense_Mutation_p.R1227W|FLII_ENST00000578558.1_Silent_p.S647S|FLII_ENST00000545457.2_Missense_Mutation_p.R1183W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1238					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CGGCGCGGCCGCTCATGTTCC	0.657													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.001					ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3712-3714)Cgg>Tgg		flightless I homolog (Drosophila)		G	TRP/ARG	0,4406		0,0,2203	86.0	89.0	88.0		3712	1.9	0.5	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FLII	NM_002018.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1238/1270	18148550	2,13004	2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148550G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3712C>T	17.37:g.18148550G>A	ENSP00000324573:p.Arg1238Trp					FLII_ENST00000379450.4_Missense_Mutation_p.R1152W|FLII_ENST00000578558.1_Silent_p.S647S|FLII_ENST00000545457.2_Missense_Mutation_p.R1183W|FLII_ENST00000579294.1_Missense_Mutation_p.R1227W	p.R1238W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			30	3937	-	all_neural(463;0.228)		1238					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3712C>T	CCDS11192.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.96	2.987534	0.53934	0.0	2.33E-4	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.27256	1.68;1.68	5.3	1.85	0.25348	Gelsolin domain (1);	0.650620	0.15109	N	0.280061	T	0.44787	0.1310	M	0.72624	2.21	0.24891	N	0.99217	D;D;D;D	0.64830	0.974;0.974;0.994;0.957	B;B;P;B	0.59761	0.438;0.438;0.863;0.326	T	0.36625	-0.9740	10	0.87932	D	0	-5.0468	13.8086	0.63248	0.0:0.0:0.6185:0.3814	.	1152;1152;1238;1207	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	W	1238;1117;1152	ENSP00000324573:R1238W;ENSP00000368763:R1152W	ENSP00000324573:R1238W	R	-	1	2	FLII	18089275	0.778000	0.28640	0.499000	0.27577	0.014000	0.08584	3.571000	0.53841	1.227000	0.43598	0.655000	0.94253	CGG		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		58	55	0	0	0	1	0	58	55				
PSMA4	5685	broad.mit.edu	37	15	78838015	78838015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78838015G>A	ENST00000044462.7	+	7	566	c.416G>A	c.(415-417)tGg>tAg	p.W139*	PSMA4_ENST00000560217.1_Nonsense_Mutation_p.W108*|PSMA4_ENST00000413382.2_Nonsense_Mutation_p.W68*|PSMA4_ENST00000559082.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558281.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558094.1_Nonsense_Mutation_p.W51*|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	139					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TACATTGGCTGGGATAAGCAC	0.393																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(415-417)tGg>tAg		proteasome (prosome, macropain) subunit, alpha type, 4							210.0	208.0	209.0					15																	78838015		2196	4293	6489	SO:0001587	stop_gained	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78838015G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.416G>A	15.37:g.78838015G>A	ENSP00000044462:p.Trp139*					PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558281.1_Nonsense_Mutation_p.W139*|PSMA4_ENST00000558094.1_Nonsense_Mutation_p.W51*|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Nonsense_Mutation_p.W68*|PSMA4_ENST00000560217.1_Nonsense_Mutation_p.W108*	p.W139*	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			7	566	+			139					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Nonsense_Mutation	SNP	ENST00000044462.7	37	c.416G>A	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.696456	0.96802	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8192	20.2147	0.98293	0.0:0.0:1.0:0.0	.	.	.	.	X	68;139	.	ENSP00000044462:W139X	W	+	2	0	PSMA4	76625070	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.575000	0.98187	2.785000	0.95823	0.591000	0.81541	TGG		0.393	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		48	79	0	0	0	1	0	48	79				
A2M	2	broad.mit.edu	37	12	9246171	9246171	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9246171T>C	ENST00000318602.7	-	18	2437	c.2130A>G	c.(2128-2130)tcA>tcG	p.S710S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	710	Bait region.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S710S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCATTACATCTGACTCTATGG	0.418																																						ENST00000318602.7																			1	Substitution - coding silent(1)	p.S710S(1)	large_intestine(1)	breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2128-2130)tcA>tcG		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						68.0	62.0	64.0					12																	9246171		1894	4118	6012	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9246171T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2130A>G	12.37:g.9246171T>C							p.S710S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			18	2437	-			710			Bait region.		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.2130A>G	CCDS44827.1																																																																																				0.418	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	18	0	0	0	1	0	12	18				
GLDC	2731	broad.mit.edu	37	9	6553496	6553496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:6553496C>T	ENST00000321612.6	-	20	2479	c.2329G>A	c.(2329-2331)Gcc>Acc	p.A777T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	777					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AAAAACGGGGCGAGATGTTTC	0.473																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2329-2331)Gcc>Acc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						95.0	90.0	92.0					9																	6553496		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6553496C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2329G>A	9.37:g.6553496C>T	ENSP00000370737:p.Ala777Thr						p.A777T	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	20	2479	-		Acute lymphoblastic leukemia(23;0.161)	777					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2329G>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023090	0.35701	.	.	ENSG00000178445	ENST00000321612	D	0.98264	-4.83	4.73	3.81	0.43845	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.324703	0.33916	N	0.004429	D	0.97222	0.9092	M	0.78637	2.42	0.58432	D	0.999998	B	0.24823	0.112	B	0.23419	0.046	D	0.96167	0.9120	10	0.66056	D	0.02	-0.1346	13.5964	0.61994	0.0:0.9231:0.0:0.0769	.	777	P23378	GCSP_HUMAN	T	777	ENSP00000370737:A777T	ENSP00000370737:A777T	A	-	1	0	GLDC	6543496	0.936000	0.31750	0.369000	0.25952	0.186000	0.23388	3.830000	0.55768	1.091000	0.41335	0.655000	0.94253	GCC		0.473	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		5	107	0	0	0	1	0	5	107				
STXBP1	6812	broad.mit.edu	37	9	130438090	130438090	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130438090C>T	ENST00000373299.1	+	14	1233	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	STXBP1_ENST00000373302.3_Missense_Mutation_p.A373V|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	373					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TAGGACCTGGCCATGGGCACA	0.498																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(1117-1119)gCc>gTc		syntaxin binding protein 1							113.0	87.0	96.0					9																	130438090		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130438090C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1118C>T	9.37:g.130438090C>T	ENSP00000362396:p.Ala373Val					STXBP1_ENST00000373299.1_Missense_Mutation_p.A373V|STXBP1_ENST00000481942.1_3'UTR	p.A373V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			14	1257	+			373					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1118C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200809	0.94997	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.79247	-1.25;-1.25	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	L	0.58583	1.82	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.59012	0.85;0.767	T	0.82989	-0.0183	10	0.42905	T	0.14	-0.2942	17.491	0.87703	0.0:1.0:0.0:0.0	.	373;373	P61764;P61764-2	STXB1_HUMAN;.	V	327;373;205;373	ENSP00000362399:A373V;ENSP00000362396:A373V	ENSP00000362396:A373V	A	+	2	0	STXBP1	129477911	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GCC		0.498	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		10	12	0	0	0	1	0	10	12				
TMEM184A	202915	broad.mit.edu	37	7	1587403	1587403	+	Silent	SNP	G	G	A	rs372271365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1587403G>A	ENST00000297477.5	-	8	1303	c.987C>T	c.(985-987)taC>taT	p.Y329Y	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	329					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCTTCTCTGCGTACACCTGGC	0.647													g|||	1	0.000199681	0.0	0.0	5008	,	,		17412	0.001		0.0	False		,,,				2504	0.0					ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(985-987)taC>taT		transmembrane protein 184A				1,4279		0,1,2139	45.0	55.0	52.0		987	-4.2	0.0	7		52	0,8546		0,0,4273	no	coding-synonymous	TMEM184A	NM_001097620.1		0,1,6412	AA,AG,GG		0.0,0.0234,0.0078		329/414	1587403	1,12825	2140	4273	6413	SO:0001819	synonymous_variant	202915					integral to membrane		g.chr7:1587403G>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.987C>T	7.37:g.1587403G>A							p.Y329Y	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	8	1303	-		Ovarian(82;0.0253)	329					Q8TBQ6	Silent	SNP	ENST00000297477.5	37	c.987C>T	CCDS43537.1																																																																																				0.647	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		5	13	0	0	0	1	0	5	13				
DOCK6	57572	broad.mit.edu	37	19	11325274	11325274	+	Silent	SNP	G	G	A	rs368169906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11325274G>A	ENST00000294618.7	-	33	4169	c.4158C>T	c.(4156-4158)acC>acT	p.T1386T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T725T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1386					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCTTGCCTCGGTTGCCAGGT	0.582																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4156-4158)acC>acT		dedicator of cytokinesis 6		G		0,4214		0,0,2107	115.0	121.0	119.0		4158	-11.1	0.0	19		119	1,8427		0,1,4213	no	coding-synonymous	DOCK6	NM_020812.2		0,1,6320	AA,AG,GG		0.0119,0.0,0.0079		1386/2048	11325274	1,12641	2107	4214	6321	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11325274G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4158C>T	19.37:g.11325274G>A						CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T725T	p.T1386T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			33	4169	-			1386					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.4158C>T	CCDS45975.1																																																																																				0.582	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	34	0	0	0	1	0	8	34				
CSF1R	1436	broad.mit.edu	37	5	149460482	149460482	+	Missense_Mutation	SNP	C	C	T	rs144261133		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149460482C>T	ENST00000286301.3	-	3	446	c.155G>A	c.(154-156)gGc>gAc	p.G52D	CSF1R_ENST00000543093.1_Missense_Mutation_p.G52D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	52	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGATGGGGGGCCATCCCATTC	0.587																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(154-156)gGc>gAc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						130.0	91.0	104.0					5																	149460482		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460482C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.155G>A	5.37:g.149460482C>T	ENSP00000286301:p.Gly52Asp					CSF1R_ENST00000543093.1_Missense_Mutation_p.G52D	p.G52D	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	446	-			52			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.155G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	9.395	1.076601	0.20227	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.26957	1.7;1.7	5.46	4.57	0.56435	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.815706	0.10548	N	0.661813	T	0.40119	0.1104	L	0.51422	1.61	0.09310	N	1	D;D;P	0.59767	0.986;0.976;0.955	P;P;P	0.58721	0.784;0.844;0.504	T	0.16630	-1.0396	10	0.36615	T	0.2	.	11.6881	0.51499	0.177:0.823:0.0:0.0	.	52;52;52	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	D	52	ENSP00000286301:G52D;ENSP00000445282:G52D	ENSP00000286301:G52D	G	-	2	0	CSF1R	149440675	0.016000	0.18221	0.330000	0.25442	0.089000	0.18198	0.822000	0.27352	1.404000	0.46819	0.655000	0.94253	GGC		0.587	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		13	13	0	0	0	1	0	13	13				
THEMIS2	9473	broad.mit.edu	37	1	28209434	28209434	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28209434C>T	ENST00000373921.3	+	4	1603	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.D404D	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	533					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCTGACAGACACCTTCTATT	0.592																																						ENST00000373921.3																			0											c.(1597-1599)gaC>gaT		thymocyte selection associated family member 2							90.0	90.0	90.0					1																	28209434		1990	4162	6152	SO:0001819	synonymous_variant	9473							g.chr1:28209434C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1599C>T	1.37:g.28209434C>T						THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Silent_p.D404D|THEMIS2_ENST00000373927.3_Intron	p.D533D	NM_001105556.1	NP_001099026.1					4	1603	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.1599C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093872	0.01858	.	.	ENSG00000130775	ENST00000456990	.	.	.	5.07	-10.1	0.00402	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.50171	D	0.999855	.	.	.	.	.	.	T	0.51663	-0.8677	4	.	.	.	-2.5598	1.4435	0.02359	0.297:0.1547:0.336:0.2123	.	.	.	.	I	281	.	.	T	+	2	0	C1orf38	28082021	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-5.199000	0.00142	-4.268000	0.00060	-0.266000	0.10368	ACA		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		5	64	0	0	0	1	0	5	64				
GHSR	2693	broad.mit.edu	37	3	172166029	172166029	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172166029C>T	ENST00000241256.2	-	1	217	c.175G>A	c.(175-177)Gct>Act	p.A59T	GHSR_ENST00000427970.1_Missense_Mutation_p.A59T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	59					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGGTTGCCAGCGATGCCCACC	0.667																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(175-177)Gct>Act		growth hormone secretagogue receptor							54.0	49.0	51.0					3																	172166029		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166029C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.175G>A	3.37:g.172166029C>T	ENSP00000241256:p.Ala59Thr					GHSR_ENST00000427970.1_Missense_Mutation_p.A59T	p.A59T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	217	-	Ovarian(172;0.00143)|Breast(254;0.197)		59					Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.175G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	1.380	-0.583608	0.03827	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.37235	1.21;1.21	4.68	1.48	0.22813	.	0.663319	0.15368	N	0.266022	T	0.18257	0.0438	N	0.08118	0	0.19775	N	0.999953	B;B	0.18166	0.026;0.022	B;B	0.19148	0.024;0.006	T	0.20075	-1.0286	10	0.33940	T	0.23	-13.8698	9.8588	0.41101	0.52:0.3811:0.0989:0.0	.	59;59	Q92847-2;Q92847	.;GHSR_HUMAN	T	59	ENSP00000241256:A59T;ENSP00000395344:A59T	ENSP00000241256:A59T	A	-	1	0	GHSR	173648723	0.627000	0.27129	0.997000	0.53966	0.680000	0.39746	-0.087000	0.11215	0.177000	0.19895	-2.157000	0.00329	GCT		0.667	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		8	14	0	0	0	1	0	8	14				
SBNO1	55206	broad.mit.edu	37	12	123830009	123830009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123830009G>A	ENST00000602398.1	-	4	473	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q115*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q116*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q115*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	116					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTGATGGTTTGCCTGTTGGTT	0.423																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(346-348)Caa>Taa		strawberry notch homolog 1 (Drosophila)							289.0	247.0	261.0					12																	123830009		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123830009G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.346C>T	12.37:g.123830009G>A	ENSP00000473665:p.Gln116*					SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q115*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q116*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q115*	p.Q116*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	3	345	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		116					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.346C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	36	5.872802	0.97049	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	.	.	.	5.74	5.74	0.90152	.	0.061068	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-17.7745	18.1163	0.89556	0.0:0.0:1.0:0.0	.	.	.	.	X	116;115;115	.	ENSP00000267176:Q115X	Q	-	1	0	SBNO1	122395962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.035000	0.93752	2.715000	0.92844	0.655000	0.94253	CAA		0.423	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		23	44	0	0	0	1	0	23	44				
MYH14	79784	broad.mit.edu	37	19	50730173	50730173	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50730173G>A	ENST00000596571.1	+	6	800	c.800G>A	c.(799-801)cGc>cAc	p.R267H	MYH14_ENST00000440075.2_Missense_Mutation_p.R275H|MYH14_ENST00000262269.8_Missense_Mutation_p.R275H|MYH14_ENST00000425460.1_Missense_Mutation_p.R275H|MYH14_ENST00000601313.1_Missense_Mutation_p.R275H|MYH14_ENST00000376970.2_Missense_Mutation_p.R267H|MYH14_ENST00000598205.1_Missense_Mutation_p.R275H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	267	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAATTCATCCGCATCAACTTT	0.587																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(823-825)cGc>cAc		myosin, heavy chain 14, non-muscle							72.0	74.0	73.0					19																	50730173		2203	4300	6503	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50730173G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.800G>A	19.37:g.50730173G>A	ENSP00000472819:p.Arg267His					MYH14_ENST00000425460.1_Missense_Mutation_p.R275H|MYH14_ENST00000376970.2_Missense_Mutation_p.R267H|MYH14_ENST00000262269.8_Missense_Mutation_p.R275H|MYH14_ENST00000601313.1_Missense_Mutation_p.R275H|MYH14_ENST00000598205.1_Missense_Mutation_p.R275H|MYH14_ENST00000596571.1_Missense_Mutation_p.R267H	p.R275H			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	8	871	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	267			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.824G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.162712	0.78226	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	3.92	3.92	0.45320	Myosin head, motor domain (3);	.	.	.	.	D	0.87826	0.6275	H	0.95294	3.65	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.991;0.985	D	0.91280	0.5051	9	0.87932	D	0	.	13.8168	0.63297	0.0:0.0:1.0:0.0	.	275;267;275	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	267;275;267;275;267;275	ENSP00000406273:R275H;ENSP00000366169:R267H;ENSP00000407879:R275H;ENSP00000262269:R275H	ENSP00000262269:R275H	R	+	2	0	MYH14	55421985	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	7.088000	0.76901	2.199000	0.70637	0.574000	0.79327	CGC		0.587	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		16	41	0	0	0	1	0	16	41				
E2F8	79733	broad.mit.edu	37	11	19251025	19251025	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19251025T>C	ENST00000527884.1	-	10	2101	c.1869A>G	c.(1867-1869)ctA>ctG	p.L623L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L623L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	623					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGTCCTTTTAGGTCCTCTT	0.463																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1867-1869)ctA>ctG		E2F transcription factor 8							124.0	129.0	127.0					11																	19251025		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19251025T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1869A>G	11.37:g.19251025T>C						RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L623L	p.L623L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			10	2101	-			623					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.1869A>G	CCDS7849.1																																																																																				0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		39	59	0	0	0	1	0	39	59				
SLC5A10	125206	broad.mit.edu	37	17	18918411	18918411	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18918411G>A	ENST00000395645.3	+	11	1158	c.1140G>A	c.(1138-1140)tcG>tcA	p.S380S	SLC5A10_ENST00000417251.2_Silent_p.S344S|SLC5A10_ENST00000395643.2_Silent_p.S353S|SLC5A10_ENST00000395647.2_Silent_p.S396S|SLC5A10_ENST00000395642.1_Silent_p.S313S|SLC5A10_ENST00000317977.6_Silent_p.S313S	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	380					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCATGTCGTCGCTGACCTCCA	0.667																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(937-939)tcG>tcA		solute carrier family 5 (sodium/sugar cotransporter), member 10							60.0	48.0	52.0					17																	18918411		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918411G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1140G>A	17.37:g.18918411G>A						SLC5A10_ENST00000395645.3_Silent_p.S380S|SLC5A10_ENST00000417251.2_Silent_p.S344S|SLC5A10_ENST00000395642.1_Silent_p.S313S|SLC5A10_ENST00000395643.2_Silent_p.S353S|SLC5A10_ENST00000395647.2_Silent_p.S396S	p.S313S			A0PJK1	SC5AA_HUMAN			10	1510	+			380					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.939G>A	CCDS42275.1																																																																																				0.667	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		16	23	0	0	0	1	0	16	23				
FANCC	2176	broad.mit.edu	37	9	97873813	97873813	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:97873813C>T	ENST00000289081.3	-	13	1515	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.A421T|FANCC_ENST00000464653.1_5'Flank	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	421					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CACAGCAGGGCCGTGGGGGGT	0.602			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1261-1263)Gcc>Acc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							76.0	78.0	78.0					9																	97873813		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97873813C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1261G>A	9.37:g.97873813C>T	ENSP00000289081:p.Ala421Thr					FANCC_ENST00000375305.1_Missense_Mutation_p.A421T	p.A421T	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			13	1515	-		Acute lymphoblastic leukemia(62;0.138)	421					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1261G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213833	0.58452	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.58940	0.3;0.3	5.93	5.0	0.66597	.	0.165132	0.53938	D	0.000057	T	0.71517	0.3349	M	0.64997	1.995	0.25185	N	0.990176	D	0.69078	0.997	D	0.63113	0.911	T	0.65113	-0.6247	10	0.59425	D	0.04	-2.8015	16.8735	0.86045	0.0:0.8722:0.1278:0.0	.	421	Q00597	FANCC_HUMAN	T	421	ENSP00000289081:A421T;ENSP00000364454:A421T	ENSP00000289081:A421T	A	-	1	0	FANCC	96913634	0.638000	0.27225	0.399000	0.26333	0.102000	0.19082	1.142000	0.31540	2.814000	0.96858	0.563000	0.77884	GCC		0.602	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		5	39	0	0	0	1	0	5	39				
ITGA7	3679	broad.mit.edu	37	12	56088268	56088268	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56088268G>A	ENST00000555728.1	-	18	2476	c.2448C>T	c.(2446-2448)agC>agT	p.S816S	ITGA7_ENST00000394230.2_Silent_p.S776S|ITGA7_ENST00000257880.7_Silent_p.S816S|ITGA7_ENST00000452168.2_Silent_p.S679S|ITGA7_ENST00000553804.1_Silent_p.S776S|ITGA7_ENST00000394229.2_Silent_p.S772S|ITGA7_ENST00000257879.6_Silent_p.S772S|ITGA7_ENST00000347027.6_Silent_p.S766S			Q13683	ITA7_HUMAN	integrin, alpha 7	816					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGTCTCAATGCTGATCCCGG	0.572																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2446-2448)agC>agT		integrin, alpha 7							79.0	70.0	73.0					12																	56088268		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56088268G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2448C>T	12.37:g.56088268G>A						ITGA7_ENST00000555728.1_Silent_p.S816S|ITGA7_ENST00000257879.6_Silent_p.S772S|ITGA7_ENST00000553804.1_Silent_p.S776S|ITGA7_ENST00000452168.2_Silent_p.S679S|ITGA7_ENST00000394229.2_Silent_p.S772S|ITGA7_ENST00000394230.2_Silent_p.S776S|ITGA7_ENST00000347027.6_Silent_p.S766S	p.S816S			Q13683	ITA7_HUMAN			18	2667	-			816					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2448C>T																																																																																					0.572	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	7	0	0	0	1	0	6	7				
COL15A1	1306	broad.mit.edu	37	9	101778332	101778332	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101778332C>T	ENST00000375001.3	+	11	2001	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	526	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGAAGAGTCCGGCAGCCCTC	0.557																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1576-1578)tcC>tcT		collagen, type XV, alpha 1							55.0	53.0	54.0					9																	101778332		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101778332C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1578C>T	9.37:g.101778332C>T							p.S526S	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			11	2001	+		Acute lymphoblastic leukemia(62;0.0562)	526			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1578C>T	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	12	0	0	0	1	0	4	12				
KIAA1804	84451	broad.mit.edu	37	1	233482357	233482357	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233482357C>T	ENST00000366624.3	+	2	1236	c.975C>T	c.(973-975)agC>agT	p.S325S	MLK4_ENST00000366623.3_Silent_p.S325S	NM_032435.2	NP_115811.2																					CTAAGGGAAGCGACATCTGGA	0.478																																						ENST00000366624.3																			0											c.(973-975)agC>agT									71.0	67.0	69.0					1																	233482357		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233482357C>T																												ENST00000366624.3:c.975C>T	1.37:g.233482357C>T						MLK4_ENST00000366623.3_Silent_p.S325S	p.S325S	NM_032435.2	NP_115811.2					2	1236	+									Silent	SNP	ENST00000366624.3	37	c.975C>T	CCDS1598.1																																																																																				0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			14	20	0	0	0	1	0	14	20				
UBE2R2	54926	broad.mit.edu	37	9	33923389	33923389	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33923389C>T	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379235.1_Missense_Mutation_p.G201S|UBAP2_ENST00000379238.1_Missense_Mutation_p.G962S|UBAP2_ENST00000379239.4_Missense_Mutation_p.G695S|UBAP2_ENST00000360802.1_Missense_Mutation_p.G962S|UBAP2_ENST00000449054.1_Missense_Mutation_p.G962S|UBAP2_ENST00000539807.1_Missense_Mutation_p.G717S	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GTACTGTAGCCGTGCTGGCCA	0.602																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2884-2886)Ggc>Agc		ubiquitin associated protein 2							263.0	257.0	259.0					9																	33923389		2203	4300	6503	SO:0001628	intergenic_variant	55833							g.chr9:33923389C>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33923389C>T						UBAP2_ENST00000379239.4_Missense_Mutation_p.G695S|UBAP2_ENST00000539807.1_Missense_Mutation_p.G717S|UBAP2_ENST00000379235.1_Missense_Mutation_p.G201S|UBAP2_ENST00000449054.1_Missense_Mutation_p.G962S|UBAP2_ENST00000360802.1_Missense_Mutation_p.G962S	p.G962S			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	3001	-			962					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.2884G>A	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	7.078	0.569742	0.13560	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.85	0.466	0.16716	.	0.431727	0.32970	N	0.005436	T	0.31009	0.0783	L	0.58810	1.83	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.11867	-1.0570	10	0.37606	T	0.19	-1.1039	10.4167	0.44327	0.0:0.4394:0.0:0.5606	.	717;695;871;962	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	S	962;962;962;871;201;695;717;396	ENSP00000368540:G962S;ENSP00000416932:G962S;ENSP00000354039:G962S;ENSP00000368537:G201S;ENSP00000368541:G695S;ENSP00000439329:G717S	ENSP00000259602:G396S	G	-	1	0	UBAP2	33913389	0.018000	0.18449	0.052000	0.19188	0.131000	0.20780	0.114000	0.15520	0.113000	0.18004	-0.302000	0.09304	GGC		0.602	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		5	215	0	0	0	1	0	5	215				
IL16	3603	broad.mit.edu	37	15	81585159	81585159	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81585159G>A	ENST00000302987.4	+	11	1683	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	IL16_ENST00000394660.2_Silent_p.R561R			Q14005	IL16_HUMAN	interleukin 16	561					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CATCCTCCAGGCTGCCCCAGG	0.597																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(1681-1683)agG>agA		interleukin 16							26.0	30.0	29.0					15																	81585159		1943	4134	6077	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585159G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1683G>A	15.37:g.81585159G>A						IL16_ENST00000302987.4_Silent_p.R561R	p.R561R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			12	2043	+			561					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1683G>A	CCDS42069.1																																																																																				0.597	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		13	15	0	0	0	1	0	13	15				
FOXRED2	80020	broad.mit.edu	37	22	36900731	36900731	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36900731C>T	ENST00000397224.4	-	3	703	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	FOXRED2_ENST00000216187.6_Missense_Mutation_p.V204M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.V204M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	204					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCACGGACACGGACTCGTAA	0.557																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(610-612)Gtg>Atg		FAD-dependent oxidoreductase domain containing 2							72.0	62.0	66.0					22																	36900731		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900731C>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.610G>A	22.37:g.36900731C>T	ENSP00000380401:p.Val204Met					FOXRED2_ENST00000397223.4_Missense_Mutation_p.V204M|FOXRED2_ENST00000216187.6_Missense_Mutation_p.V204M	p.V204M	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			3	703	-			204					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.610G>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566434	0.27915	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.17854	2.25;2.25;2.25	5.6	4.59	0.56863	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.112699	0.64402	D	0.000009	T	0.18341	0.0440	L	0.49699	1.58	0.48830	D	0.999711	P	0.47034	0.889	B	0.42798	0.398	T	0.03875	-1.0996	10	0.18276	T	0.48	-22.2366	14.4585	0.67433	0.0:0.9295:0.0:0.0705	.	204	Q8IWF2	FXRD2_HUMAN	M	204	ENSP00000380401:V204M;ENSP00000216187:V204M;ENSP00000380400:V204M	ENSP00000216187:V204M	V	-	1	0	FOXRED2	35230677	0.998000	0.40836	0.871000	0.34182	0.011000	0.07611	3.686000	0.54685	1.370000	0.46153	-0.136000	0.14681	GTG		0.557	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		8	17	0	0	0	1	0	8	17				
HPSE	10855	broad.mit.edu	37	4	84231935	84231935	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84231935G>A	ENST00000405413.2	-	6	918	c.782C>T	c.(781-783)gCa>gTa	p.A261V	HPSE_ENST00000513463.1_Missense_Mutation_p.A203V|HPSE_ENST00000512196.1_Missense_Mutation_p.A261V|HPSE_ENST00000311412.5_Missense_Mutation_p.A261V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	261					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ATAGAGTTTTGCATTTTTGAA	0.388																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(781-783)gCa>gTa		heparanase	Heparin(DB01109)						186.0	181.0	183.0					4																	84231935		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84231935G>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.782C>T	4.37:g.84231935G>A	ENSP00000384262:p.Ala261Val					HPSE_ENST00000512196.1_Missense_Mutation_p.A261V|HPSE_ENST00000311412.5_Missense_Mutation_p.A261V|HPSE_ENST00000513463.1_Missense_Mutation_p.A203V	p.A261V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	6	918	-		Hepatocellular(203;0.114)	261					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.782C>T	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907915	0.72868	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.11	5.11	0.69529	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.158849	0.56097	D	0.000022	T	0.47507	0.1449	L	0.48877	1.53	0.54753	D	0.999981	D;B;B	0.67145	0.996;0.241;0.236	D;B;B	0.67725	0.953;0.178;0.134	T	0.14896	-1.0456	10	0.25106	T	0.35	-15.6311	18.3219	0.90241	0.0:0.0:1.0:0.0	.	261;203;261	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	V	261;261;261;203	ENSP00000308107:A261V;ENSP00000384262:A261V;ENSP00000423265:A261V;ENSP00000421365:A203V	ENSP00000308107:A261V	A	-	2	0	HPSE	84450959	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	6.716000	0.74702	2.655000	0.90218	0.585000	0.79938	GCA		0.388	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		6	159	0	0	0	1	0	6	159				
SAMHD1	25939	broad.mit.edu	37	20	35545171	35545171	+	Missense_Mutation	SNP	C	C	T	rs201250022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35545171C>T	ENST00000262878.4	-	9	1215	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SAMHD1_ENST00000373694.5_Missense_Mutation_p.R124H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	339					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTCACAGACACGGGCAAACTT	0.383																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1015-1017)cGt>cAt		SAM domain and HD domain 1							187.0	202.0	197.0					20																	35545171		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35545171C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1016G>A	20.37:g.35545171C>T	ENSP00000262878:p.Arg339His					SAMHD1_ENST00000373694.5_Missense_Mutation_p.R124H	p.R339H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			9	1215	-		Myeloproliferative disorder(115;0.00878)	339					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1016G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045935	0.93685	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95171	-3.63;-3.63	5.79	4.85	0.62838	HD domain (1);	0.051878	0.85682	D	0.000000	D	0.97623	0.9221	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98406	1.0570	10	0.87932	D	0	-19.3775	14.4769	0.67551	0.0:0.9288:0.0:0.0711	.	339	Q9Y3Z3	SAMH1_HUMAN	H	339;124	ENSP00000262878:R339H;ENSP00000362798:R124H	ENSP00000262878:R339H	R	-	2	0	SAMHD1	34978585	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	1.444000	0.47605	0.591000	0.81541	CGT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		70	119	0	0	0	1	0	70	119				
AK7	122481	broad.mit.edu	37	14	96875259	96875259	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96875259G>A	ENST00000267584.4	+	4	523	c.479G>A	c.(478-480)cGc>cAc	p.R160H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACTTGGGCGCGCTCCAAAGCC	0.478																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(478-480)cGc>cAc		adenylate kinase 7							82.0	80.0	80.0					14																	96875259		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875259G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.479G>A	14.37:g.96875259G>A	ENSP00000267584:p.Arg160His					AK7_ENST00000554313.1_3'UTR	p.R160H	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	4	523	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	160					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.479G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686357	0.47991	.	.	ENSG00000140057	ENST00000267584	T	0.56611	0.45	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.675264	0.14346	N	0.325382	T	0.63212	0.2492	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	P	0.50049	0.629	T	0.67393	-0.5682	10	0.66056	D	0.02	-13.3972	15.7785	0.78242	0.0:0.0:1.0:0.0	.	160	Q96M32	KAD7_HUMAN	H	160	ENSP00000267584:R160H	ENSP00000267584:R160H	R	+	2	0	AK7	95945012	0.012000	0.17670	0.151000	0.22473	0.074000	0.17049	1.866000	0.39489	2.535000	0.85469	0.655000	0.94253	CGC		0.478	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			18	13	0	0	0	1	0	18	13				
EP400	57634	broad.mit.edu	37	12	132502188	132502188	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132502188C>T	ENST00000333577.4	+	21	4249	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	EP400_ENST00000332482.4_Silent_p.G1307G|EP400_ENST00000330386.6_Silent_p.G1344G|EP400_ENST00000389561.2_Silent_p.G1344G|EP400_ENST00000389562.2_Silent_p.G1343G			Q96L91	EP400_HUMAN	E1A binding protein p400	1380					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCACCCAGGCTCTTCCTACG	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4138-4140)ggC>ggT		E1A binding protein p400							43.0	42.0	43.0					12																	132502188		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502188C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4140C>T	12.37:g.132502188C>T						EP400_ENST00000332482.4_Silent_p.G1307G|EP400_ENST00000389561.2_Silent_p.G1344G|EP400_ENST00000389562.2_Silent_p.G1343G|EP400_ENST00000330386.6_Silent_p.G1344G	p.G1380G			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4249	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1380					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4140C>T																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	22	0	0	0	1	0	19	22				
ZNF3	7551	broad.mit.edu	37	7	99672820	99672820	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99672820G>T	ENST00000424697.1	-	5	515	c.209C>A	c.(208-210)cCt>cAt	p.P70H	ZNF3_ENST00000413658.2_Missense_Mutation_p.P70H|ZNF3_ENST00000303915.6_Missense_Mutation_p.P70H|ZNF3_ENST00000299667.4_Missense_Mutation_p.P70H	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCTCTGAGCAGGTTCCAAACG	0.488																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(208-210)cCt>cAt		zinc finger protein 3							150.0	152.0	152.0					7																	99672820		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99672820G>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.209C>A	7.37:g.99672820G>T	ENSP00000415358:p.Pro70His					ZNF3_ENST00000424697.1_Missense_Mutation_p.P70H|ZNF3_ENST00000299667.4_Missense_Mutation_p.P70H|ZNF3_ENST00000413658.2_Missense_Mutation_p.P70H	p.P70H			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1176	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	70			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.209C>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467182	0.63625	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068	T;T;T;T;T;T;T;T;T	0.02579	4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24;4.24	5.08	3.29	0.37713	Krueppel-associated box (4);	0.143046	0.32703	N	0.005747	T	0.10852	0.0265	M	0.76727	2.345	0.34306	D	0.684927	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.72075	0.966;0.924;0.976	T	0.07888	-1.0749	10	0.52906	T	0.07	-8.8245	6.1279	0.20189	0.0938:0.0:0.7203:0.1859	.	53;70;70	B3KRP4;P17036;P17036-2	.;ZNF3_HUMAN;.	H	70;70;70;70;34;70;70;34;70	ENSP00000399951:P70H;ENSP00000415358:P70H;ENSP00000306372:P70H;ENSP00000299667:P70H;ENSP00000416088:P34H;ENSP00000405970:P70H;ENSP00000388042:P70H;ENSP00000394113:P34H;ENSP00000416686:P70H	ENSP00000299667:P70H	P	-	2	0	ZNF3	99510756	0.003000	0.15002	0.993000	0.49108	0.993000	0.82548	0.634000	0.24614	0.735000	0.32537	-0.133000	0.14855	CCT		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		24	96	1	0	9.90768e-06	1	1.02613e-05	24	96				
GRM2	2912	broad.mit.edu	37	3	51749519	51749519	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51749519T>C	ENST00000395052.3	+	4	1964	c.1730T>C	c.(1729-1731)cTc>cCc	p.L577P	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	577					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCGCCTGCCTCGGTGCCCTG	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1729-1731)cTc>cCc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						67.0	63.0	64.0					3																	51749519		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749519T>C	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1730T>C	3.37:g.51749519T>C	ENSP00000378492:p.Leu577Pro					GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.L577P	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1964	+			577					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1730T>C	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652459	0.67472	.	.	ENSG00000164082	ENST00000395052	D	0.90788	-2.73	5.3	4.12	0.48240	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.95297	0.8474	M	0.89095	3.005	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.95248	0.8357	10	0.87932	D	0	.	11.7756	0.51983	0.1319:0.0:0.0:0.8681	.	577	Q14416	GRM2_HUMAN	P	577	ENSP00000378492:L577P	ENSP00000378492:L577P	L	+	2	0	GRM2	51724559	1.000000	0.71417	0.866000	0.34008	0.982000	0.71751	8.029000	0.88807	0.940000	0.37473	0.459000	0.35465	CTC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			26	32	0	0	0	1	0	26	32				
GPATCH8	23131	broad.mit.edu	37	17	42512492	42512492	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42512492G>A	ENST00000591680.1	-	5	319	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.R19W	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	97							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACACGGCGCCGTTCGGTAGCA	0.383																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(55-57)Cgg>Tgg		G patch domain containing 8							149.0	127.0	134.0					17																	42512492		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42512492G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.289C>T	17.37:g.42512492G>A	ENSP00000467556:p.Arg97Trp					GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.R97W	p.R19W			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	6	337	-		Prostate(33;0.0181)	97					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.55C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631964	0.67015	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13420	2.59	5.6	5.6	0.85130	.	0.163236	0.39083	N	0.001462	T	0.21427	0.0516	N	0.08118	0	0.47276	D	0.999375	D	0.89917	1.0	D	0.70935	0.971	T	0.32052	-0.9921	10	0.87932	D	0	-10.6715	19.6136	0.95619	0.0:0.0:1.0:0.0	.	97	Q9UKJ3	GPTC8_HUMAN	W	97;19	ENSP00000395016:R19W	ENSP00000335486:R97W	R	-	1	2	GPATCH8	39868018	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.556000	0.67307	2.641000	0.89580	0.585000	0.79938	CGG		0.383	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		41	49	0	0	0	1	0	41	49				
ANK2	287	broad.mit.edu	37	4	114276470	114276470	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114276470G>A	ENST00000357077.4	+	38	6749	c.6696G>A	c.(6694-6696)aaG>aaA	p.K2232K	ANK2_ENST00000264366.6_Silent_p.K2199K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2232					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGCTATAAGCATGAAGGCC	0.512																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6694-6696)aaG>aaA		ankyrin 2, neuronal							59.0	64.0	62.0					4																	114276470		2203	4299	6502	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114276470G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6696G>A	4.37:g.114276470G>A						ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.K2199K|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.K2232K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6749	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2199					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.6696G>A	CCDS3702.1																																																																																				0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	39	0	0	0	1	0	5	39				
ALG10B	144245	broad.mit.edu	37	12	38714692	38714692	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38714692G>A	ENST00000308742.4	+	3	1415	c.1099G>A	c.(1099-1101)Gca>Aca	p.A367T	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	367					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGATATGCAATTCTGAA	0.299																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1099-1101)Gca>Aca		ALG10B, alpha-1,2-glucosyltransferase							78.0	82.0	81.0					12																	38714692		2201	4296	6497	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714692G>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1099G>A	12.37:g.38714692G>A	ENSP00000310120:p.Ala367Thr					ALG10B_ENST00000551464.1_Intron	p.A367T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1415	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	367					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1099G>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	5.501	0.277502	0.10403	.	.	ENSG00000175548	ENST00000308742	T	0.54675	0.56	3.34	3.34	0.38264	.	0.403428	0.30134	N	0.010323	T	0.29458	0.0734	N	0.04959	-0.14	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.09079	-1.0691	10	0.20519	T	0.43	.	12.9869	0.58596	0.0:0.0:1.0:0.0	.	367	Q5I7T1	AG10B_HUMAN	T	367	ENSP00000310120:A367T	ENSP00000310120:A367T	A	+	1	0	ALG10B	37000959	0.996000	0.38824	0.006000	0.13384	0.083000	0.17756	4.109000	0.57824	2.171000	0.68590	0.655000	0.94253	GCA		0.299	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		32	56	0	0	0	1	0	32	56				
RHOBTB3	22836	broad.mit.edu	37	5	95091344	95091344	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95091344C>G	ENST00000379982.3	+	6	1435	c.927C>G	c.(925-927)aaC>aaG	p.N309K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	309	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGCTATAAACAGAGATACTG	0.428																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(925-927)aaC>aaG		Rho-related BTB domain containing 3							99.0	95.0	96.0					5																	95091344		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091344C>G	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.927C>G	5.37:g.95091344C>G	ENSP00000369318:p.Asn309Lys					GLRX_ENST00000508780.1_Intron	p.N309K	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1435	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	309			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.927C>G	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551382	0.13374	.	.	ENSG00000164292	ENST00000379982	T	0.62364	0.03	6.08	5.22	0.72569	BTB/POZ-like (2);BTB/POZ (1);	0.496244	0.24810	N	0.035414	T	0.42539	0.1207	N	0.19112	0.55	0.27960	N	0.936822	B	0.13145	0.007	B	0.18871	0.023	T	0.23655	-1.0182	10	0.05959	T	0.93	-26.1183	11.7908	0.52068	0.0:0.8091:0.1233:0.0676	.	309	O94955	RHBT3_HUMAN	K	309	ENSP00000369318:N309K	ENSP00000369318:N309K	N	+	3	2	RHOBTB3	95117100	0.007000	0.16637	0.748000	0.31131	0.871000	0.50021	1.530000	0.36007	1.586000	0.49944	0.591000	0.81541	AAC		0.428	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		28	42	0	0	0	1	0	28	42				
PCYT1A	5130	broad.mit.edu	37	3	195975094	195975094	+	Silent	SNP	C	C	T	rs370000604		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195975094C>T	ENST00000292823.2	-	5	490	c.318G>A	c.(316-318)acG>acA	p.T106T	AC069257.8_ENST00000608995.1_RNA|PCYT1A_ENST00000419333.1_Silent_p.T106T|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Silent_p.T106T|AC069257.8_ENST00000425275.1_RNA	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	106					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CAATGAGGTACGTATTAGGGA	0.458																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(316-318)acG>acA		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)			0,4406		0,0,2203	153.0	148.0	149.0		318	-0.9	1.0	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/368	195975094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195975094C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.318G>A	3.37:g.195975094C>T						PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.T106T|PCYT1A_ENST00000431016.1_Silent_p.T106T	p.T106T	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	5	490	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		106			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.318G>A	CCDS3315.1																																																																																				0.458	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		46	66	0	0	0	1	0	46	66				
DAND5	199699	broad.mit.edu	37	19	13080429	13080429	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13080429C>T	ENST00000317060.2	+	0	134				DAND5_ENST00000585548.1_Silent_p.S15S	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist						atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TGACCTTGAGCCCAGTCCGga	0.587																																						ENST00000585548.1																			0				kidney(2)|lung(3)|ovary(1)	6						c.(43-45)agC>agT		DAN domain family member 5, BMP antagonist							74.0	75.0	74.0					19																	13080429		2203	4300	6503	SO:0001623	5_prime_UTR_variant	199699					extracellular region		g.chr19:13080429C>T	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.-46C>T	19.37:g.13080429C>T						DAND5_ENST00000317060.2_5'UTR	p.S15S			Q8N907	DAND5_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)		2	141	+			0						Silent	SNP	ENST00000317060.2	37	c.45C>T	CCDS12291.1																																																																																				0.587	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452761.1	NM_152654		19	27	0	0	0	1	0	19	27				
SLC13A1	6561	broad.mit.edu	37	7	122755608	122755608	+	Silent	SNP	C	C	T	rs150844958		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:122755608C>T	ENST00000194130.2	-	15	1791	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	584					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S584S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGGAGCCCACGAAGGGTAAG	0.403																																						ENST00000194130.2																			1	Substitution - coding silent(1)	p.S584S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1750-1752)tcG>tcA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C		1,4405	2.1+/-5.4	0,1,2202	174.0	137.0	149.0		1752	-4.0	1.0	7	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC13A1	NM_022444.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		584/596	122755608	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755608C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1752G>A	7.37:g.122755608C>T						SLC13A1_ENST00000539873.1_3'UTR	p.S584S	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			15	1791	-			584					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.1752G>A	CCDS5786.1																																																																																				0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		18	26	0	0	0	1	0	18	26				
YARS	8565	broad.mit.edu	37	1	33272105	33272105	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33272105C>T	ENST00000373477.4	-	4	1396	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	163					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTATAAGAGGCCACTCAGCAA	0.522																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(487-489)gGc>gAc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						172.0	161.0	165.0					1																	33272105		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33272105C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.488G>A	1.37:g.33272105C>T	ENSP00000362576:p.Gly163Asp						p.G163D	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			4	1396	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	163					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.488G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294450	0.81025	.	.	ENSG00000134684	ENST00000373477	T	0.50277	0.75	4.92	4.92	0.64577	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046408	0.85682	D	0.000000	T	0.78285	0.4259	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85059	0.0933	10	0.72032	D	0.01	-11.5842	18.5477	0.91053	0.0:1.0:0.0:0.0	.	163	P54577	SYYC_HUMAN	D	163	ENSP00000362576:G163D	ENSP00000362576:G163D	G	-	2	0	YARS	33044692	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	7.487000	0.81328	2.463000	0.83235	0.557000	0.71058	GGC		0.522	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		57	81	0	0	0	1	0	57	81				
HYAL2	8692	broad.mit.edu	37	3	50356445	50356445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50356445G>A	ENST00000447092.1	-	2	3245	c.953C>T	c.(952-954)gCg>gTg	p.A318V	TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000395139.3_Missense_Mutation_p.A318V|HYAL2_ENST00000442581.1_Missense_Mutation_p.A318V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A318V			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	318					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCAGGGCCGCACTCTCGCC	0.597																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(952-954)gCg>gTg		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						85.0	81.0	82.0					3																	50356445		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50356445G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.953C>T	3.37:g.50356445G>A	ENSP00000401853:p.Ala318Val					HYAL2_ENST00000395139.3_Missense_Mutation_p.A318V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A318V|HYAL2_ENST00000442581.1_Missense_Mutation_p.A318V	p.A318V			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	3245	-			318					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.953C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945132	0.73672	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.8	4.93	0.64822	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.103160	0.64402	D	0.000003	T	0.34077	0.0885	L	0.48260	1.515	0.43267	D	0.995212	D;D	0.71674	0.988;0.998	P;P	0.61874	0.62;0.895	T	0.02789	-1.1110	10	0.32370	T	0.25	-22.7256	12.418	0.55504	0.0809:0.0:0.9191:0.0	.	318;318	B3KRZ2;Q12891	.;HYAL2_HUMAN	V	318	ENSP00000401853:A318V;ENSP00000350387:A318V;ENSP00000378571:A318V;ENSP00000406657:A318V	ENSP00000350387:A318V	A	-	2	0	HYAL2	50331449	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	5.172000	0.65003	1.463000	0.47967	0.462000	0.41574	GCG		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		15	35	0	0	0	1	0	15	35				
ZP2	7783	broad.mit.edu	37	16	21213057	21213057	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21213057G>A	ENST00000574002.1	-	14	1956	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	ZP2_ENST00000219593.4_Missense_Mutation_p.P492S|ZP2_ENST00000574091.1_Missense_Mutation_p.P483S|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	492	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGGTAAATGGACCCAACTTC	0.413																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1474-1476)Cca>Tca		zona pellucida glycoprotein 2 (sperm receptor)							147.0	136.0	140.0					16																	21213057		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21213057G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1474C>T	16.37:g.21213057G>A	ENSP00000460971:p.Pro492Ser					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.P483S|ZP2_ENST00000219593.4_Missense_Mutation_p.P492S	p.P492S			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	14	1956	-			492			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1474C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321376	0.41096	.	.	ENSG00000103310	ENST00000219593	T	0.81415	-1.49	5.64	4.68	0.58851	Zona pellucida sperm-binding protein (3);	0.286478	0.29424	N	0.012183	D	0.86243	0.5886	M	0.84585	2.705	0.42787	D	0.993884	P;P	0.37636	0.603;0.571	P;B	0.48738	0.588;0.403	D	0.87133	0.2198	10	0.56958	D	0.05	-1.7642	10.695	0.45894	0.1491:0.0:0.8509:0.0	.	483;492	Q4VAP1;Q05996	.;ZP2_HUMAN	S	492	ENSP00000219593:P492S	ENSP00000219593:P492S	P	-	1	0	ZP2	21120558	0.909000	0.30893	0.997000	0.53966	0.197000	0.23852	1.169000	0.31871	2.646000	0.89796	0.591000	0.81541	CCA		0.413	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			6	99	0	0	0	1	0	6	99				
ZNF668	79759	broad.mit.edu	37	16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1690-1692)cGc>cAc		zinc finger protein 668							58.0	55.0	56.0					16																	31072558		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072558C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1691G>A	16.37:g.31072558C>T	ENSP00000440149:p.Arg564His					ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H	p.R564H	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2475	-			564					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1691G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860853	0.71834	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131819	0.47455	D	0.000224	T	0.52158	0.1717	M	0.78049	2.395	0.42855	D	0.994091	D	0.89917	1.0	D	0.68353	0.957	T	0.58736	-0.7584	10	0.87932	D	0	-39.4971	16.7615	0.85513	0.0:1.0:0.0:0.0	.	564	Q96K58	ZN668_HUMAN	H	587;564;564;564;564	ENSP00000442573:R587H;ENSP00000441349:R564H;ENSP00000440149:R564H;ENSP00000378434:R564H;ENSP00000300849:R564H	ENSP00000300849:R564H	R	-	2	0	ZNF668	30980059	0.447000	0.25673	1.000000	0.80357	0.932000	0.56968	0.773000	0.26661	2.500000	0.84329	0.561000	0.74099	CGC		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		9	48	0	0	0	1	0	9	48				
SLC9A5	6553	broad.mit.edu	37	16	67293842	67293842	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67293842G>A	ENST00000299798.11	+	12	1900	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	612					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACAAGCCGCGCCGTAGGGTG	0.597																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1834-1836)cGc>cAc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							25.0	28.0	27.0					16																	67293842		2044	4188	6232	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67293842G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1835G>A	16.37:g.67293842G>A	ENSP00000299798:p.Arg612His						p.R612H	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	12	1900	+		Ovarian(137;0.0563)	612					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1835G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	36	5.792251	0.96945	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.61040	0.14	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	T	0.81972	-0.0688	10	0.87932	D	0	.	19.3545	0.94407	0.0:0.0:1.0:0.0	.	100;612	F8WDV9;Q14940	.;SL9A5_HUMAN	H	612;100	ENSP00000299798:R612H	ENSP00000299798:R612H	R	+	2	0	SLC9A5	65851343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.605000	0.74155	2.894000	0.99253	0.655000	0.94253	CGC		0.597	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			4	19	0	0	0	1	0	4	19				
MRPL10	124995	broad.mit.edu	37	17	45901638	45901638	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45901638T>A	ENST00000351111.2	-	5	724	c.719A>T	c.(718-720)cAa>cTa	p.Q240L	OSBPL7_ENST00000007414.3_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.Q250L|MRPL10_ENST00000290208.7_Missense_Mutation_p.Q250L|OSBPL7_ENST00000392507.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	240					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CTTCTCGCGTTGCTCTCTGAT	0.587																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(748-750)cAa>cTa		mitochondrial ribosomal protein L10							109.0	93.0	98.0					17																	45901638		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901638T>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.719A>T	17.37:g.45901638T>A	ENSP00000324100:p.Gln240Leu					MRPL10_ENST00000414011.1_Missense_Mutation_p.Q250L|MRPL10_ENST00000351111.2_Missense_Mutation_p.Q240L	p.Q250L			Q7Z7H8	RM10_HUMAN			5	1201	-			240					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.749A>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453122	0.63290	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.50001	0.76;1.8;1.8	4.76	3.68	0.42216	.	0.240770	0.42682	D	0.000675	T	0.64527	0.2606	M	0.81239	2.535	0.48901	D	0.999726	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.65561	-0.6138	10	0.62326	D	0.03	-4.7096	9.1942	0.37217	0.0:0.088:0.0:0.912	.	240;250	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	240;250;250	ENSP00000324100:Q240L;ENSP00000290208:Q250L;ENSP00000395870:Q250L	ENSP00000290208:Q250L	Q	-	2	0	MRPL10	43256637	1.000000	0.71417	0.662000	0.29724	0.465000	0.32709	4.084000	0.57650	0.686000	0.31488	0.402000	0.26972	CAA		0.587	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		17	27	0	0	0	1	0	17	27				
KLK5	25818	broad.mit.edu	37	19	51451971	51451971	+	Silent	SNP	G	G	A	rs200214119		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51451971G>A	ENST00000336334.3	-	5	1003	c.651C>T	c.(649-651)tgC>tgT	p.C217C	CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.C217C|KLK5_ENST00000593428.1_Silent_p.C217C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AAGCATCCTCGCACCTTTTCT	0.498																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(649-651)tgC>tgT		kallikrein-related peptidase 5		G	,,	0,4406		0,0,2203	154.0	126.0	136.0		651,651,651	2.0	0.1	19		136	2,8598	1.2+/-3.3	0,2,4298	yes	coding-synonymous,coding-synonymous,coding-synonymous	KLK5	NM_001077491.1,NM_001077492.1,NM_012427.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	217/294,217/294,217/294	51451971	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451971G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.651C>T	19.37:g.51451971G>A						KLK5_ENST00000391809.2_Silent_p.C217C|KLK5_ENST00000593428.1_Silent_p.C217C	p.C217C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	1003	-		all_neural(266;0.026)	217			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.651C>T	CCDS12810.1																																																																																				0.498	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		25	31	0	0	0	1	0	25	31				
RHOT2	89941	broad.mit.edu	37	16	723548	723548	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:723548C>T	ENST00000315082.4	+	19	1913	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V	RHBDL1_ENST00000352681.3_5'Flank|RHBDL1_ENST00000219551.2_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	600	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GTTGTCGGGGCCGCCGTGGCC	0.627																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1798-1800)gCc>gTc		ras homolog family member T2							54.0	65.0	61.0					16																	723548		2198	4293	6491	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:723548C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1799C>T	16.37:g.723548C>T	ENSP00000321971:p.Ala600Val						p.A600V	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			19	1913	+		Hepatocellular(780;0.0218)	600			Miro 2.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1799C>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164710	0.57476	.	.	ENSG00000140983	ENST00000315082	T	0.16597	2.33	4.88	3.93	0.45458	MIRO (1);	0.235291	0.42172	D	0.000742	T	0.29783	0.0744	M	0.76574	2.34	0.41544	D	0.988539	P	0.34977	0.478	P	0.45794	0.493	T	0.04621	-1.0938	10	0.46703	T	0.11	-5.5771	11.1031	0.48186	0.0:0.9074:0.0:0.0926	.	600	Q8IXI1	MIRO2_HUMAN	V	600	ENSP00000321971:A600V	ENSP00000321971:A600V	A	+	2	0	RHOT2	663549	0.012000	0.17670	0.008000	0.14137	0.059000	0.15707	2.095000	0.41729	1.048000	0.40298	0.462000	0.41574	GCC		0.627	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		30	47	0	0	0	1	0	30	47				
DGKE	8526	broad.mit.edu	37	17	54926166	54926166	+	Missense_Mutation	SNP	C	C	T	rs149433337		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54926166C>T	ENST00000284061.3	+	6	1178	c.998C>T	c.(997-999)gCg>gTg	p.A333V		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	333	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATTCCAGTTGCGCAGGTTTTG	0.413																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(997-999)gCg>gTg		diacylglycerol kinase, epsilon 64kDa		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	131.0	132.0		998	3.4	0.7	17	dbSNP_134	132	0,8600		0,0,4300	no	missense	DGKE	NM_003647.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	333/568	54926166	1,13005	2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54926166C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.998C>T	17.37:g.54926166C>T	ENSP00000284061:p.Ala333Val						p.A333V	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			6	1178	+	Breast(9;3.59e-07)		333			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.998C>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722479	0.48728	2.27E-4	0.0	ENSG00000153933	ENST00000284061	T	0.22336	1.96	5.59	3.4	0.38934	Diacylglycerol kinase, catalytic domain (3);	0.322780	0.36002	N	0.002844	T	0.14313	0.0346	N	0.22421	0.69	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.23419	0.046;0.046	T	0.07046	-1.0793	10	0.25106	T	0.35	.	12.7106	0.57088	0.3559:0.6441:0.0:0.0	.	333;333	A1L4Q0;P52429	.;DGKE_HUMAN	V	333	ENSP00000284061:A333V	ENSP00000284061:A333V	A	+	2	0	DGKE	52281165	1.000000	0.71417	0.738000	0.30950	0.968000	0.65278	4.897000	0.63231	2.642000	0.89623	0.563000	0.77884	GCG		0.413	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		27	49	0	0	0	1	0	27	49				
PKP1	5317	broad.mit.edu	37	1	201291157	201291157	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201291157G>A	ENST00000352845.3	+	9	1462	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	PKP1_ENST00000367324.3_Missense_Mutation_p.A467T|PKP1_ENST00000263946.3_Missense_Mutation_p.A488T			Q13835	PKP1_HUMAN	plakophilin 1	488					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCGCCTGGACGCCGAGGTGCC	0.617																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1462-1464)Gcc>Acc		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							122.0	97.0	105.0					1																	201291157		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201291157G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1462G>A	1.37:g.201291157G>A	ENSP00000295597:p.Ala488Thr					PKP1_ENST00000367324.3_Missense_Mutation_p.A467T|PKP1_ENST00000352845.3_Missense_Mutation_p.A488T	p.A488T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			9	1713	+			488					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.1462G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169676	0.78452	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.76578	-1.03;-1.03;-1.03	5.12	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.322569	0.32533	N	0.005971	T	0.66366	0.2782	L	0.37800	1.135	0.44188	D	0.997007	P;P;P	0.52463	0.882;0.953;0.937	B;B;B	0.42282	0.15;0.382;0.291	T	0.62129	-0.6919	10	0.15499	T	0.54	0.4573	11.6185	0.51104	0.0835:0.0:0.9165:0.0	.	75;467;488	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	T	467;488;488	ENSP00000356293:A467T;ENSP00000263946:A488T;ENSP00000295597:A488T	ENSP00000263946:A488T	A	+	1	0	PKP1	199557780	0.697000	0.27767	0.661000	0.29709	0.874000	0.50279	1.454000	0.35178	1.173000	0.42796	0.650000	0.86243	GCC		0.617	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		7	32	0	0	0	1	0	7	32				
SOX14	8403	broad.mit.edu	37	3	137483986	137483986	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137483986C>T	ENST00000306087.1	+	1	408	c.360C>T	c.(358-360)agC>agT	p.S120S		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	120					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						GCCTCCTGAGCGCGCCCGAGA	0.697																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(358-360)agC>agT		SRY (sex determining region Y)-box 14							29.0	36.0	34.0					3																	137483986		2199	4291	6490	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483986C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.360C>T	3.37:g.137483986C>T							p.S120S	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	408	+			120					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.360C>T	CCDS3094.1																																																																																				0.697	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		12	15	0	0	0	1	0	12	15				
TPO	7173	broad.mit.edu	37	2	1488475	1488475	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1488475C>T	ENST00000345913.4	+	9	1537	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	TPO_ENST00000382201.3_Silent_p.S482S|TPO_ENST00000349624.3_Silent_p.S309S|TPO_ENST00000329066.4_Silent_p.S482S|TPO_ENST00000346956.3_Silent_p.S482S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.S482S|TPO_ENST00000382198.1_Silent_p.S309S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	482					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACTGTGTCCAACGTGTTCT	0.647																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1444-1446)tcC>tcT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						77.0	71.0	73.0					2																	1488475		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488475C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1446C>T	2.37:g.1488475C>T						TPO_ENST00000329066.4_Silent_p.S482S|TPO_ENST00000382198.1_Silent_p.S309S|TPO_ENST00000346956.3_Silent_p.S482S|TPO_ENST00000349624.3_Silent_p.S309S|TPO_ENST00000337415.3_Silent_p.S482S|TPO_ENST00000382201.3_Silent_p.S482S|TPO_ENST00000497517.2_3'UTR	p.S482S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1537	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	482					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1446C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	c	9.356	1.066876	0.20067	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.3	2.14	0.27477	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36187	-0.9758	4	.	.	.	-39.8445	2.1789	0.03869	0.2562:0.4556:0.1273:0.1608	.	.	.	.	L	14	.	.	P	+	2	0	TPO	1467482	0.999000	0.42202	1.000000	0.80357	0.748000	0.42578	0.690000	0.25451	1.214000	0.43395	0.556000	0.70494	CCA		0.647	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		13	23	0	0	0	1	0	13	23				
CDC25B	994	broad.mit.edu	37	20	3784075	3784075	+	Missense_Mutation	SNP	C	C	T	rs377681163		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3784075C>T	ENST00000245960.5	+	14	2078	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	CDC25B_ENST00000344256.6_Missense_Mutation_p.R397C|CDC25B_ENST00000439880.2_Missense_Mutation_p.R447C|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.R370C|CDC25B_ENST00000340833.4_Missense_Mutation_p.R420C	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	461	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCCCCTGGAACGCGACGCCGA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19605	0.001		0.0	False		,,,				2504	0.0					ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1381-1383)Cgc>Tgc		cell division cycle 25B		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	94.0	97.0		1339,1258,1381	2.4	0.2	20		97	0,8600		0,0,4300	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	447/567,420/540,461/581	3784075	1,13005	2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3784075C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1381C>T	20.37:g.3784075C>T	ENSP00000245960:p.Arg461Cys					CDC25B_ENST00000379598.5_Missense_Mutation_p.R370C|CDC25B_ENST00000439880.2_Missense_Mutation_p.R447C|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R397C|CDC25B_ENST00000340833.4_Missense_Mutation_p.R420C	p.R461C	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			14	2078	+			461			Rhodanese.		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1381C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527168	0.64860	2.27E-4	0.0	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.55	2.42	0.29668	Rhodanese-like (5);	0.612109	0.16971	N	0.192117	T	0.47173	0.1431	L	0.60904	1.88	0.43494	D	0.995739	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.998;0.999	P;P;P;P;P;P	0.61477	0.833;0.833;0.833;0.823;0.742;0.889	T	0.45190	-0.9278	10	0.87932	D	0	-18.2499	13.1484	0.59477	0.4159:0.5841:0.0:0.0	.	370;383;397;420;447;461	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	C	397;370;461;447;420	ENSP00000339125:R397C;ENSP00000368918:R370C;ENSP00000245960:R461C;ENSP00000405972:R447C;ENSP00000339170:R420C	ENSP00000245960:R461C	R	+	1	0	CDC25B	3732075	0.427000	0.25514	0.160000	0.22671	0.582000	0.36321	0.232000	0.17891	0.334000	0.23590	0.655000	0.94253	CGC		0.612	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		26	23	0	0	0	1	0	26	23				
ATXN1	6310	broad.mit.edu	37	6	16328510	16328510	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:16328510C>T	ENST00000244769.4	-	8	968	c.32G>A	c.(31-33)tGc>tAc	p.C11Y	ATXN1_ENST00000436367.1_Missense_Mutation_p.C11Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	11					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGAGGCAGGCATTCGTTGCT	0.597																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(31-33)tGc>tAc		ataxin 1							39.0	39.0	39.0					6																	16328510		2202	4296	6498	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328510C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.32G>A	6.37:g.16328510C>T	ENSP00000244769:p.Cys11Tyr					ATXN1_ENST00000436367.1_Missense_Mutation_p.C11Y	p.C11Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	968	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	11					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.32G>A	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481262	0.84747	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.48836	0.8;0.8	5.14	5.14	0.70334	.	0.045934	0.85682	D	0.000000	T	0.60248	0.2254	M	0.71036	2.16	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.64402	-0.6416	10	0.87932	D	0	-21.5884	18.7977	0.92001	0.0:1.0:0.0:0.0	.	11	P54253	ATX1_HUMAN	Y	11	ENSP00000244769:C11Y;ENSP00000416360:C11Y	ENSP00000244769:C11Y	C	-	2	0	ATXN1	16436489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	TGC		0.597	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		10	13	0	0	0	1	0	10	13				
PITPNB	23760	broad.mit.edu	37	22	28293810	28293810	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:28293810C>T	ENST00000335272.5	-	4	344	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	PITPNB_ENST00000455418.3_Missense_Mutation_p.A92T|PITPNB_ENST00000320996.10_Missense_Mutation_p.A90T	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	90					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TAGGGGTACGCATTCCAGGCT	0.507																																						ENST00000335272.5																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(268-270)Gcg>Acg		phosphatidylinositol transfer protein, beta							95.0	83.0	88.0					22																	28293810		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28293810C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.268G>A	22.37:g.28293810C>T	ENSP00000334738:p.Ala90Thr					PITPNB_ENST00000455418.3_Missense_Mutation_p.A92T|PITPNB_ENST00000320996.10_Missense_Mutation_p.A90T	p.A90T	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN			4	344	-			90					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.268G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575804	0.96553	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.95	4.92	0.64577	START-like domain (1);	0.046850	0.85682	D	0.000000	T	0.77116	0.4083	H	0.95745	3.715	0.80722	D	1	D;D;D	0.67145	0.986;0.996;0.992	P;P;P	0.57425	0.657;0.819;0.82	D	0.85137	0.0978	10	0.87932	D	0	-16.1502	15.0742	0.72063	0.1431:0.8569:0.0:0.0	.	92;90;90	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	T	90;90;92;17;92	ENSP00000334738:A90T;ENSP00000321266:A90T;ENSP00000405179:A92T;ENSP00000406542:A17T;ENSP00000403675:A92T	ENSP00000321266:A90T	A	-	1	0	PITPNB	26623810	1.000000	0.71417	0.882000	0.34594	0.996000	0.88848	5.817000	0.69229	1.484000	0.48361	0.655000	0.94253	GCG		0.507	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			10	13	0	0	0	1	0	10	13				
ANKRD30A	91074	broad.mit.edu	37	10	37430806	37430806	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:37430806G>A	ENST00000602533.1	+	7	912	c.813G>A	c.(811-813)gaG>gaA	p.E271E	ANKRD30A_ENST00000374660.1_Silent_p.E271E|ANKRD30A_ENST00000361713.1_Silent_p.E271E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	327					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGATGAGGCTGCATCCT	0.473																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(811-813)gaG>gaA		ankyrin repeat domain 30A							63.0	64.0	64.0					10																	37430806		1882	4124	6006	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430806G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.813G>A	10.37:g.37430806G>A						ANKRD30A_ENST00000361713.1_Silent_p.E271E|ANKRD30A_ENST00000602533.1_Silent_p.E271E	p.E271E			Q9BXX3	AN30A_HUMAN			7	912	+			327					Q5W025	Silent	SNP	ENST00000602533.1	37	c.813G>A																																																																																					0.473	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		15	9	0	0	0	1	0	15	9				
FGGY	55277	broad.mit.edu	37	1	60073567	60073567	+	Silent	SNP	C	C	T	rs565354392	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:60073567C>T	ENST00000303721.7	+	9	1170	c.996C>T	c.(994-996)agC>agT	p.S332S	FGGY_ENST00000371212.1_Silent_p.S244S|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Silent_p.S33S|FGGY_ENST00000371218.4_Silent_p.S332S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	332					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTGGTCAGAGCGTTACTGGAA	0.438													C|||	3	0.000599042	0.0	0.0	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0031					ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(994-996)agC>agT		FGGY carbohydrate kinase domain containing							134.0	132.0	133.0					1																	60073567		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60073567C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.996C>T	1.37:g.60073567C>T						FGGY_ENST00000371212.1_Silent_p.S244S|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Silent_p.S332S|FGGY_ENST00000371210.1_Silent_p.S33S	p.S332S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			9	1180	+	all_cancers(7;7.36e-05)		332					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.996C>T	CCDS611.2																																																																																				0.438	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		17	44	0	0	0	1	0	17	44				
MRGPRX2	117194	broad.mit.edu	37	11	19077910	19077910	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19077910T>C	ENST00000329773.2	-	2	127	c.40A>G	c.(40-42)Aca>Gca	p.T14A		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	14					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATTCACTGTTGTACTTTCT	0.532																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(40-42)Aca>Gca		MAS-related GPR, member X2							189.0	205.0	200.0					11																	19077910		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077910T>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.40A>G	11.37:g.19077910T>C	ENSP00000333800:p.Thr14Ala						p.T14A	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	127	-			14					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.40A>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	5.213	0.224762	0.09916	.	.	ENSG00000183695	ENST00000329773	T	0.05649	3.41	4.82	-4.01	0.04045	.	2.203020	0.01709	N	0.027637	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B	0.21606	0.058	B	0.18871	0.023	T	0.31806	-0.9930	10	0.06099	T	0.92	.	1.8074	0.03084	0.2137:0.3347:0.2982:0.1534	.	14	Q96LB1	MRGX2_HUMAN	A	14	ENSP00000333800:T14A	ENSP00000333800:T14A	T	-	1	0	MRGPRX2	19034486	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.480000	0.00227	-0.615000	0.05679	-0.313000	0.08912	ACA		0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		64	112	0	0	0	1	0	64	112				
PITPNM1	9600	broad.mit.edu	37	11	67267630	67267630	+	Silent	SNP	G	G	A	rs373924835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67267630G>A	ENST00000534749.1	-	5	1091	c.903C>T	c.(901-903)ccC>ccT	p.P301P	PITPNM1_ENST00000436757.2_Silent_p.P301P|PITPNM1_ENST00000356404.3_Silent_p.P301P			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	301					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCTGGCATCGGGGGAGGCAT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15105	0.0		0.0	False		,,,				2504	0.001				GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(901-903)ccC>ccT		phosphatidylinositol transfer protein, membrane-associated 1		G	,	3,4325		0,3,2161	27.0	32.0	30.0		903,903	-8.3	0.0	11		30	0,8508		0,0,4254	no	coding-synonymous,coding-synonymous	PITPNM1	NM_001130848.1,NM_004910.2	,	0,3,6415	AA,AG,GG		0.0,0.0693,0.0234	,	301/1244,301/1245	67267630	3,12833	2164	4254	6418	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267630G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.903C>T	11.37:g.67267630G>A						PITPNM1_ENST00000436757.2_Silent_p.P301P|PITPNM1_ENST00000534749.1_Silent_p.P301P	p.P301P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	1128	-			301					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.903C>T	CCDS31620.1																																																																																				0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		16	21	0	0	0	1	0	16	21				
LRRC66	339977	broad.mit.edu	37	4	52861265	52861265	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52861265G>A	ENST00000343457.3	-	4	1929	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	641						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTG	0.527																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1921-1923)tcC>tcT		leucine rich repeat containing 66							70.0	69.0	69.0					4																	52861265		2000	4175	6175	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861265G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1923C>T	4.37:g.52861265G>A							p.S641S	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1929	-			641						Silent	SNP	ENST00000343457.3	37	c.1923C>T	CCDS43229.1																																																																																				0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		25	35	0	0	0	1	0	25	35				
HS2ST1	9653	broad.mit.edu	37	1	87379755	87379755	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87379755G>A	ENST00000370550.5	+	0	0				SEP15_ENST00000370554.1_Missense_Mutation_p.P11S|SEP15_ENST00000401030.3_Missense_Mutation_p.P11S|HS2ST1_ENST00000370551.4_5'Flank|SEP15_ENST00000331835.5_Missense_Mutation_p.P11S|SEP15_ENST00000469566.1_Intron	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CCAAACGCCGGCACCAGACAC	0.602																																						ENST00000331835.5																			0											c.(31-33)Ccg>Tcg									57.0	79.0	71.0					1																	87379755		2071	4215	6286	SO:0001631	upstream_gene_variant	0							g.chr1:87379755G>A	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255		1.37:g.87379755G>A	Exception_encountered					RP4-604K5.1_ENST00000401030.3_Missense_Mutation_p.P11S|RP4-604K5.1_ENST00000370554.1_Missense_Mutation_p.P11S|RP4-604K5.1_ENST00000469566.1_Intron	p.P11S	NM_004261.3	NP_004252.2					1	293	-								D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.31C>T	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225446	0.39300	.	.	ENSG00000183291	ENST00000331835;ENST00000370554;ENST00000401030	.	.	.	5.27	2.34	0.29019	.	0.185093	0.49305	N	0.000159	T	0.09862	0.0242	L	0.44542	1.39	0.23515	N	0.997515	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.001	T	0.35871	-0.9771	9	0.08179	T	0.78	-4.3168	5.1625	0.15068	0.1824:0.1698:0.6478:0.0	.	11;11	O60613-2;O60613	.;SEP15_HUMAN	S	11	.	ENSP00000328729:P11S	P	-	1	0	RP4-604K5.1	87152343	0.520000	0.26250	0.196000	0.23383	0.010000	0.07245	2.753000	0.47524	0.350000	0.24002	0.561000	0.74099	CCG		0.602	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		7	25	0	0	0	1	0	7	25				
ROBO1	6091	broad.mit.edu	37	3	78987844	78987844	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:78987844G>A	ENST00000464233.1	-	4	519	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ROBO1_ENST00000436010.2_Missense_Mutation_p.R97W|ROBO1_ENST00000467549.1_Missense_Mutation_p.R97W|ROBO1_ENST00000495273.1_Missense_Mutation_p.R97W|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	136	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTACTTTTCCGTCCATGTACT	0.473																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(289-291)Cgg>Tgg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							99.0	94.0	96.0					3																	78987844		1967	4162	6129	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987844G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.406C>T	3.37:g.78987844G>A	ENSP00000420321:p.Arg136Trp					ROBO1_ENST00000467549.1_Missense_Mutation_p.R97W|ROBO1_ENST00000464233.1_Missense_Mutation_p.R136W|ROBO1_ENST00000495273.1_Missense_Mutation_p.R97W	p.R97W			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	1286	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	136			Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.289C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663890	0.67700	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.53	2.66	0.31614	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.66297	2.02	0.51233	D	0.999911	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.77016	-0.2744	9	.	.	.	.	14.5741	0.68232	0.0:0.0:0.6173:0.3827	.	136;97;97;97	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	W	97;97;136;97;97;136	ENSP00000406043:R97W;ENSP00000420321:R136W;ENSP00000420637:R97W;ENSP00000417992:R97W	.	R	-	1	2	ROBO1	79070534	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	4.768000	0.62293	0.259000	0.21709	-0.493000	0.04662	CGG		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		13	10	0	0	0	1	0	13	10				
GPR39	2863	broad.mit.edu	37	2	133174883	133174883	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133174883G>A	ENST00000329321.3	+	1	737	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	90					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATGCCCATGGAGTTCTACAG	0.547																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(268-270)Gag>Aag		G protein-coupled receptor 39							237.0	214.0	222.0					2																	133174883		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174883G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.268G>A	2.37:g.133174883G>A	ENSP00000327417:p.Glu90Lys						p.E90K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	737	+			90					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.268G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250099	0.95305	.	.	ENSG00000183840	ENST00000329321	T	0.37058	1.22	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.62515	-0.6838	10	0.54805	T	0.06	.	19.304	0.94153	0.0:0.0:1.0:0.0	.	90	O43194	GPR39_HUMAN	K	90	ENSP00000327417:E90K	ENSP00000327417:E90K	E	+	1	0	GPR39	132891353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.803000	0.96430	0.549000	0.68633	GAG		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			31	39	0	0	0	1	0	31	39				
SALL2	6297	broad.mit.edu	37	14	21993240	21993240	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21993240G>T	ENST00000327430.3	-	2	916	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGCAACAGCACCTGCCTG	0.592																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(622-624)Ctg>Atg		spalt-like transcription factor 2							40.0	39.0	39.0					14																	21993240		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993240G>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.622C>A	14.37:g.21993240G>T	ENSP00000333537:p.Leu208Met					SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.L208M	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	916	-	all_cancers(95;0.000662)		208					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.622C>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706674	0.48412	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.04654	3.58	4.46	3.57	0.40892	.	0.000000	0.31507	N	0.007528	T	0.12646	0.0307	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.01108	-1.1449	10	0.66056	D	0.02	-10.5944	9.7601	0.40526	0.1007:0.0:0.8993:0.0	.	206;208	B4DFD9;Q9Y467	.;SALL2_HUMAN	M	208	ENSP00000333537:L208M	ENSP00000333537:L208M	L	-	1	2	SALL2	21063080	0.026000	0.19158	1.000000	0.80357	0.989000	0.77384	0.617000	0.24359	1.110000	0.41699	0.655000	0.94253	CTG		0.592	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		13	12	1	0	0.00010058	1	0.000103117	13	12				
TRIM9	114088	broad.mit.edu	37	14	51492006	51492006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51492006G>A	ENST00000298355.3	-	2	2016	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	TRIM9_ENST00000338969.5_Missense_Mutation_p.R299C|TRIM9_ENST00000360392.4_Missense_Mutation_p.R299C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	299					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCATGTTGCGCAGCTGTACC	0.552																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(895-897)Cgc>Tgc		tripartite motif containing 9							216.0	189.0	198.0					14																	51492006		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51492006G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.895C>T	14.37:g.51492006G>A	ENSP00000298355:p.Arg299Cys					TRIM9_ENST00000360392.4_Missense_Mutation_p.R299C|TRIM9_ENST00000338969.5_Missense_Mutation_p.R299C	p.R299C	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			2	2016	-	all_epithelial(31;0.00418)|Breast(41;0.148)		299					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.895C>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995876	0.54147	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.71222	-0.42;-0.55;0.49	5.87	5.87	0.94306	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	L	0.40543	1.245	0.58432	D	0.999998	B;D;B	0.76494	0.015;0.999;0.009	B;D;B	0.65010	0.014;0.931;0.006	T	0.79107	-0.1939	10	0.66056	D	0.02	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	299;299;299	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	C	299	ENSP00000298355:R299C;ENSP00000342970:R299C;ENSP00000353561:R299C	ENSP00000298355:R299C	R	-	1	0	TRIM9	50561756	0.994000	0.37717	0.992000	0.48379	0.519000	0.34347	2.420000	0.44679	2.941000	0.99782	0.655000	0.94253	CGC		0.552	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		69	114	0	0	0	1	0	69	114				
GRIN2C	2905	broad.mit.edu	37	17	72846864	72846864	+	Missense_Mutation	SNP	C	C	T	rs200999765		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72846864C>T	ENST00000293190.5	-	5	1302	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V386M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	386					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGAGGCCACACGGGGTACTTC	0.657																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1156-1158)Gtg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	65.0	45.0	52.0		1156	4.3	0.9	17		52	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GRIN2C	NM_000835.3	21	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	386/1234	72846864	4,13002	2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846864C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1156G>A	17.37:g.72846864C>T	ENSP00000293190:p.Val386Met					GRIN2C_ENST00000347612.4_Missense_Mutation_p.V386M	p.V386M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			5	1302	-	all_lung(278;0.172)|Lung NSC(278;0.207)		386					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1156G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336191	0.41398	2.27E-4	3.49E-4	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.07688	3.17	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.87180	2.865	0.47584	D	0.999466	D;D	0.76494	0.989;0.999	P;D	0.70227	0.832;0.968	T	0.38351	-0.9665	10	0.87932	D	0	.	16.8807	0.86062	0.0:1.0:0.0:0.0	.	420;386	Q8IW23;Q14957	.;NMDE3_HUMAN	M	386;420	ENSP00000293190:V386M	ENSP00000293190:V386M	V	-	1	0	GRIN2C	70358459	1.000000	0.71417	0.941000	0.38009	0.862000	0.49288	5.886000	0.69743	2.373000	0.80994	0.555000	0.69702	GTG		0.657	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	12	0	0	0	1	0	6	12				
CRTAP	10491	broad.mit.edu	37	3	33174149	33174149	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33174149G>T	ENST00000320954.6	+	5	1124	c.1025G>T	c.(1024-1026)aGg>aTg	p.R342M	CRTAP_ENST00000449224.1_Missense_Mutation_p.R299M	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	342					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CAGTACCACAGGGACACTTGG	0.517																																						ENST00000320954.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1024-1026)aGg>aTg		cartilage associated protein							152.0	134.0	140.0					3																	33174149		2203	4300	6503	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33174149G>T	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1025G>T	3.37:g.33174149G>T	ENSP00000323696:p.Arg342Met					CRTAP_ENST00000449224.1_Missense_Mutation_p.R299M	p.R342M	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN			5	1124	+			342					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.1025G>T	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405524	0.62288	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.60299	0.33;0.2	5.48	2.69	0.31865	.	0.093386	0.64402	D	0.000001	T	0.58337	0.2115	L	0.50333	1.59	0.40250	D	0.978057	D;D	0.56035	0.974;0.974	P;P	0.56514	0.8;0.8	T	0.56613	-0.7950	10	0.34782	T	0.22	-0.5788	6.0594	0.19828	0.4261:0.0:0.5739:0.0	.	299;342	C9JP16;O75718	.;CRTAP_HUMAN	M	342;329;299	ENSP00000323696:R342M;ENSP00000409997:R299M	ENSP00000323696:R342M	R	+	2	0	CRTAP	33149153	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	2.124000	0.42006	1.327000	0.45338	0.561000	0.74099	AGG		0.517	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			31	50	1	0	1.08312e-15	1	1.18619e-15	31	50				
PANK2	80025	broad.mit.edu	37	20	3888801	3888801	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3888801G>A	ENST00000316562.4	+	2	863	c.857G>A	c.(856-858)cGc>cAc	p.R286H	PANK2_ENST00000497424.1_5'UTR|PANK2_ENST00000610179.1_Missense_Mutation_p.R163H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	286			R -> C (in NBIA1). {ECO:0000269|PubMed:11479594}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTTTATACGCTTTCCCACT	0.502																																						ENST00000316562.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(856-858)cGc>cAc		pantothenate kinase 2							141.0	117.0	125.0					20																	3888801		2203	4300	6503	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3888801G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.857G>A	20.37:g.3888801G>A	ENSP00000313377:p.Arg286His					PANK2_ENST00000497424.1_5'UTR|PANK2_ENST00000336066.3_Intron	p.R286H	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN			2	863	+			286		R -> C (in NBIA1).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.857G>A	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385080	0.82792	.	.	ENSG00000125779	ENST00000316562;ENST00000399552	D	0.99545	-6.13	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.64676	1.99	0.80722	D	1	P	0.46512	0.879	B	0.32022	0.139	D	0.99727	1.1011	10	0.59425	D	0.04	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	286	Q9BZ23	PANK2_HUMAN	H	286;102	ENSP00000313377:R286H	ENSP00000313377:R286H	R	+	2	0	PANK2	3836801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.591000	0.98241	2.941000	0.99782	0.655000	0.94253	CGC		0.502	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		36	35	0	0	0	1	0	36	35				
QRICH1	54870	broad.mit.edu	37	3	49094396	49094396	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49094396C>T	ENST00000395443.2	-	3	1709	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.V413I|QRICH1_ENST00000424300.1_Missense_Mutation_p.V413I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	413	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATATATGGACAGTTTGAGCC	0.537																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1237-1239)Gtc>Atc		glutamine-rich 1							90.0	83.0	86.0					3																	49094396		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094396C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1237G>A	3.37:g.49094396C>T	ENSP00000378830:p.Val413Ile					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.V413I|QRICH1_ENST00000357496.2_Missense_Mutation_p.V413I	p.V413I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1709	-			413			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1237G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017583	0.54576	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.07	6.07	0.98685	.	0.168034	0.52532	D	0.000067	T	0.47764	0.1463	N	0.19112	0.55	0.48135	D	0.999592	B	0.30439	0.279	B	0.27608	0.081	T	0.45702	-0.9243	9	0.62326	D	0.03	-5.4744	20.6593	0.99626	0.0:1.0:0.0:0.0	.	413	Q2TAL8	QRIC1_HUMAN	I	413	.	ENSP00000350094:V413I	V	-	1	0	QRICH1	49069400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.051000	0.57412	2.885000	0.99019	0.655000	0.94253	GTC		0.537	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		11	45	0	0	0	1	0	11	45				
FNDC3B	64778	broad.mit.edu	37	3	172013301	172013301	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172013301A>G	ENST00000336824.4	+	8	1097	c.998A>G	c.(997-999)tAc>tGc	p.Y333C	FNDC3B_ENST00000416957.1_Missense_Mutation_p.Y333C|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Y333C	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGATAATTTACAGGTTGTGT	0.403																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(997-999)tAc>tGc		fibronectin type III domain containing 3B							104.0	99.0	101.0					3																	172013301		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172013301A>G	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.998A>G	3.37:g.172013301A>G	ENSP00000338523:p.Tyr333Cys					FNDC3B_ENST00000416957.1_Missense_Mutation_p.Y333C|FNDC3B_ENST00000415807.2_Missense_Mutation_p.Y333C	p.Y333C	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	8	1097	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		333			Fibronectin type-III 1.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.998A>G	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364352	0.82463	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.991	T	0.78069	-0.2348	10	0.87932	D	0	-19.2128	15.4607	0.75353	1.0:0.0:0.0:0.0	.	333;333	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	C	333	ENSP00000411242:Y333C;ENSP00000338523:Y333C;ENSP00000389094:Y333C	ENSP00000338523:Y333C	Y	+	2	0	FNDC3B	173495995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.830000	0.86741	2.288000	0.76882	0.528000	0.53228	TAC		0.403	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		7	73	0	0	0	1	0	7	73				
CALCR	799	broad.mit.edu	37	7	93073027	93073027	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:93073027C>T	ENST00000394441.1	-	8	1006	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	CALCR_ENST00000426151.1_Missense_Mutation_p.A231T|CALCR_ENST00000359558.2_Missense_Mutation_p.A265T|CALCR_ENST00000421592.1_Missense_Mutation_p.A247T|CALCR_ENST00000360249.4_Missense_Mutation_p.A247T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	265					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A231P(1)|p.A265P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TAGTTGCAGGCCATCATGTAC	0.443																																						ENST00000359558.2																			2	Substitution - Missense(2)	p.A231P(1)|p.A265P(1)	large_intestine(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(793-795)Gcc>Acc		calcitonin receptor	Salmon Calcitonin(DB00017)						136.0	126.0	130.0					7																	93073027		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93073027C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.691G>A	7.37:g.93073027C>T	ENSP00000377959:p.Ala231Thr					CALCR_ENST00000421592.1_Missense_Mutation_p.A247T|CALCR_ENST00000426151.1_Missense_Mutation_p.A231T|CALCR_ENST00000360249.4_Missense_Mutation_p.A247T|CALCR_ENST00000394441.1_Missense_Mutation_p.A231T	p.A265T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1092	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		247					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.793G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	9.336	1.061789	0.19987	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.94	-5.07	0.02938	.	.	.	.	.	T	0.22859	0.0552	N	0.03983	-0.305	0.28679	N	0.905198	B;B	0.18166	0.026;0.002	B;B	0.16289	0.015;0.007	T	0.03555	-1.1025	9	0.51188	T	0.08	.	20.1708	0.98159	0.778:0.222:0.0:0.0	.	265;231	F5H605;A4D1G6	.;.	T	265;247;247;231;231	ENSP00000352561:A265T;ENSP00000353385:A247T;ENSP00000399552:A247T;ENSP00000377959:A231T;ENSP00000389295:A231T	ENSP00000352561:A265T	A	-	1	0	CALCR	92910963	0.999000	0.42202	0.209000	0.23619	0.967000	0.64934	0.900000	0.28431	-1.144000	0.02862	-1.404000	0.01136	GCC		0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	41	0	0	0	1	0	24	41				
AMER3	205147	broad.mit.edu	37	2	131522167	131522167	+	Missense_Mutation	SNP	G	G	A	rs369785856		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131522167G>A	ENST00000423981.1	+	2	2632	c.2522G>A	c.(2521-2523)gGc>gAc	p.G841D	AMER3_ENST00000321420.4_Missense_Mutation_p.G841D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	841					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCCCGTGAGGGCCTCCTCTGT	0.632																																						ENST00000423981.1																			0											c.(2521-2523)gGc>gAc		APC membrane recruitment protein 3		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	0,4016		0,0,2008	7.0	8.0	8.0		2522,2522,2522,2522	0.6	0.0	2		8	1,8227		0,1,4113	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	94,94,94,94	0,1,6121	AA,AG,GG		0.0122,0.0,0.0082	benign,benign,benign,benign	841/862,841/862,841/862,841/862	131522167	1,12243	2008	4114	6122	SO:0001583	missense	205147							g.chr2:131522167G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2522G>A	2.37:g.131522167G>A	ENSP00000392700:p.Gly841Asp					AMER3_ENST00000321420.4_Missense_Mutation_p.G841D	p.G841D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2632	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.2522G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359853	0.24598	0.0	1.22E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.60424	0.19;0.19	3.9	0.56	0.17279	.	0.948772	0.08584	N	0.924048	T	0.38799	0.1054	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22173	-1.0224	10	0.25106	T	0.35	.	3.0576	0.06189	0.2935:0.232:0.4745:0.0	.	841	Q8N944	F123C_HUMAN	D	841	ENSP00000314914:G841D;ENSP00000392700:G841D	ENSP00000314914:G841D	G	+	2	0	FAM123C	131238637	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	0.065000	0.14466	0.327000	0.23409	0.561000	0.74099	GGC		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		5	9	0	0	0	1	0	5	9				
CD48	962	broad.mit.edu	37	1	160681528	160681528	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160681528C>T	ENST00000368046.3	-	1	113	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	CD48_ENST00000368045.3_Missense_Mutation_p.C9Y	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	9					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGAGCCAGACACGAATCCCA	0.522																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(25-27)tGt>tAt		CD48 molecule							121.0	97.0	105.0					1																	160681528		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160681528C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.26G>A	1.37:g.160681528C>T	ENSP00000357025:p.Cys9Tyr					CD48_ENST00000368046.3_Missense_Mutation_p.C9Y	p.C9Y			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	65	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		9					Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.26G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	8.604	0.887484	0.17540	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.48522	4.01;0.81	4.24	-8.06	0.01102	.	1.670180	0.02540	N	0.094560	T	0.09069	0.0224	N	0.17082	0.46	0.09310	N	1	B;B;B	0.21821	0.028;0.061;0.028	B;B;B	0.19391	0.025;0.025;0.014	T	0.05886	-1.0858	10	0.72032	D	0.01	1.6809	1.0173	0.01510	0.4151:0.1902:0.1031:0.2916	.	9;9;9	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	Y	9	ENSP00000357025:C9Y;ENSP00000357024:C9Y	ENSP00000357024:C9Y	C	-	2	0	CD48	158948152	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.946000	0.01536	-1.835000	0.01191	0.655000	0.94253	TGT		0.522	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		14	17	0	0	0	1	0	14	17				
OR2B11	127623	broad.mit.edu	37	1	247614342	247614342	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247614342G>A	ENST00000318749.6	-	1	966	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCCACAGAGCCTCCAGATC	0.453																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(943-945)Ctc>Ttc		olfactory receptor, family 2, subfamily B, member 11							193.0	203.0	200.0					1																	247614342		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614342G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.943C>T	1.37:g.247614342G>A	ENSP00000325682:p.Leu315Phe						p.L315F	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	966	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	315					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.943C>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448697	0.43531	.	.	ENSG00000177535	ENST00000318749	T	0.00006	9.74	4.85	-0.825	0.10809	.	1.382030	0.05143	N	0.494670	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04229	-1.0967	10	0.24483	T	0.36	.	0.4766	0.00541	0.262:0.1308:0.3153:0.2918	.	315	Q5JQS5	OR2BB_HUMAN	F	315	ENSP00000325682:L315F	ENSP00000325682:L315F	L	-	1	0	OR2B11	245680965	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.103000	0.15292	-0.179000	0.10654	0.643000	0.83706	CTC		0.453	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		98	137	0	0	0	1	0	98	137				
FBXO27	126433	broad.mit.edu	37	19	39521716	39521716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39521716C>T	ENST00000292853.4	-	4	644	c.525G>A	c.(523-525)tgG>tgA	p.W175*	FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W174*|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W175*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	175	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCAGTTCTGGCCACAGACCCT	0.507																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(523-525)tgG>tgA		F-box protein 27							183.0	162.0	169.0					19																	39521716		2203	4300	6503	SO:0001587	stop_gained	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521716C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.525G>A	19.37:g.39521716C>T	ENSP00000292853:p.Trp175*					CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W175*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W174*	p.W175*	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	644	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		175			FBA.		Q96C87	Nonsense_Mutation	SNP	ENST00000292853.4	37	c.525G>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692157	0.96793	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	.	.	.	3.99	2.95	0.34219	.	0.291586	0.24511	N	0.037900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.4167	7.6111	0.28131	0.0:0.8813:0.0:0.1187	.	.	.	.	X	175	.	ENSP00000292853:W175X	W	-	3	0	FBXO27	44213556	1.000000	0.71417	0.405000	0.26409	0.985000	0.73830	2.330000	0.43885	1.033000	0.39918	0.479000	0.44913	TGG		0.507	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			21	99	0	0	0	1	0	21	99				
MED25	81857	broad.mit.edu	37	19	50338353	50338353	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50338353C>T	ENST00000312865.6	+	14	1646	c.1593C>T	c.(1591-1593)agC>agT	p.S531S	MED25_ENST00000538643.1_Silent_p.S318S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	531	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.S531S(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACGACCAGAGCGGCTTCGTCA	0.607																																					GBM(51;894 1657 37868)	ENST00000312865.6																			2	Substitution - coding silent(2)	p.S531S(2)	kidney(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1591-1593)agC>agT		mediator complex subunit 25							198.0	174.0	182.0					19																	50338353		2203	4300	6503	SO:0001819	synonymous_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50338353C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1593C>T	19.37:g.50338353C>T						MED25_ENST00000538643.1_Silent_p.S318S	p.S531S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	14	1646	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	531			Interaction with CREBBP.|Interaction with VP16.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	ENST00000312865.6	37	c.1593C>T	CCDS33075.1																																																																																				0.607	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		9	125	0	0	0	1	0	9	125				
INTS5	80789	broad.mit.edu	37	11	62415513	62415513	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62415513G>A	ENST00000330574.2	-	2	2091	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	680					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCTGGGGATGTCTGAGACAG	0.592																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2038-2040)aCa>aTa		integrator complex subunit 5							61.0	61.0	61.0					11																	62415513		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415513G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2039C>T	11.37:g.62415513G>A	ENSP00000327889:p.Thr680Ile						p.T680I	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2091	-			680					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2039C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	0.368	-0.935365	0.02340	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.44	4.53	0.55603	.	0.282498	0.36932	N	0.002326	T	0.19886	0.0478	N	0.08118	0	0.29671	N	0.842471	B	0.14012	0.009	B	0.09377	0.004	T	0.10520	-1.0626	9	0.23302	T	0.38	.	6.8733	0.24133	0.0856:0.0:0.7389:0.1755	.	680	Q6P9B9	INT5_HUMAN	I	680	.	ENSP00000327889:T680I	T	-	2	0	INTS5	62172089	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.571000	0.45990	1.516000	0.48900	-0.182000	0.12963	ACA		0.592	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	20	0	0	0	1	0	7	20				
ZCCHC12	170261	broad.mit.edu	37	X	117959682	117959682	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117959682G>A	ENST00000310164.2	+	4	982	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	159					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						gctccagaacgctattcaggc	0.502																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(475-477)Gct>Act		zinc finger, CCHC domain containing 12							107.0	107.0	107.0					X																	117959682		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959682G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.475G>A	X.37:g.117959682G>A	ENSP00000308921:p.Ala159Thr						p.A159T	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	982	+			159					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.475G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390033	0.61956	.	.	ENSG00000174460	ENST00000310164	T	0.12147	2.71	3.09	3.09	0.35607	.	0.000000	0.36167	N	0.002753	T	0.37839	0.1018	M	0.87900	2.915	0.30442	N	0.776083	D	0.89917	1.0	D	0.87578	0.998	T	0.36672	-0.9738	10	0.72032	D	0.01	-13.7532	8.7855	0.34818	0.0:0.0:1.0:0.0	.	159	Q6PEW1	ZCH12_HUMAN	T	159	ENSP00000308921:A159T	ENSP00000308921:A159T	A	+	1	0	ZCCHC12	117843710	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	3.765000	0.55272	1.801000	0.52704	0.594000	0.82650	GCT		0.502	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		23	38	0	0	0	1	0	23	38				
DOCK1	1793	broad.mit.edu	37	10	129231687	129231687	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129231687C>T	ENST00000280333.6	+	48	5101	c.4992C>T	c.(4990-4992)tcC>tcT	p.S1664S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1664					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACCAGGCTCCGACGGGTGAG	0.597																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4990-4992)tcC>tcT		dedicator of cytokinesis 1							58.0	62.0	60.0					10																	129231687		1996	4161	6157	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129231687C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4992C>T	10.37:g.129231687C>T							p.S1664S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	48	5101	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1664					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.4992C>T																																																																																					0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		11	25	0	0	0	1	0	11	25				
KLHDC4	54758	broad.mit.edu	37	16	87743136	87743136	+	Silent	SNP	G	G	A	rs200862866	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87743136G>A	ENST00000270583.5	-	10	1240	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	KLHDC4_ENST00000353170.5_Silent_p.T337T|KLHDC4_ENST00000347925.5_Silent_p.T363T|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	394										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TGGTGACCACGGTGCCATCCT	0.692													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15366	0.002		0.0	False		,,,				2504	0.0					ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1180-1182)acC>acT		kelch domain containing 4							35.0	34.0	34.0					16																	87743136		2198	4298	6496	SO:0001819	synonymous_variant	54758							g.chr16:87743136G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1182C>T	16.37:g.87743136G>A						KLHDC4_ENST00000353170.5_Silent_p.T337T|KLHDC4_ENST00000347925.5_Silent_p.T363T|KLHDC4_ENST00000566349.1_5'UTR	p.T394T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	10	1240	-			394					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.1182C>T	CCDS10963.1																																																																																				0.692	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		4	21	0	0	0	1	0	4	21				
CEP104	9731	broad.mit.edu	37	1	3768889	3768889	+	Missense_Mutation	SNP	G	G	A	rs150169294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3768889G>A	ENST00000378230.3	-	2	407	c.83C>T	c.(82-84)gCg>gTg	p.A28V	CEP104_ENST00000378223.3_Missense_Mutation_p.A28V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	28						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GACAGTTGGCGCGTGGATCAT	0.627																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(82-84)gCg>gTg		centrosomal protein 104kDa		G	VAL/ALA	0,4406		0,0,2203	63.0	56.0	58.0		83	5.2	0.5	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP104	NM_014704.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	28/926	3768889	1,13005	2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3768889G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.83C>T	1.37:g.3768889G>A	ENSP00000367476:p.Ala28Val					CEP104_ENST00000378223.3_Missense_Mutation_p.A28V	p.A28V	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			2	407	-			28					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.83C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242160	0.58995	0.0	1.16E-4	ENSG00000116198	ENST00000378230;ENST00000428079;ENST00000378223	T;T	0.80214	-1.35;-1.35	5.2	5.2	0.72013	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88081	0.6341	L	0.58669	1.825	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.983;0.997	D	0.88416	0.3025	10	0.54805	T	0.06	.	17.7109	0.88321	0.0:0.0:1.0:0.0	.	28;28	O60308-3;O60308	.;CE104_HUMAN	V	28	ENSP00000367476:A28V;ENSP00000367468:A28V	ENSP00000367468:A28V	A	-	2	0	CEP104	3758749	1.000000	0.71417	0.481000	0.27354	0.226000	0.24999	7.716000	0.84723	2.406000	0.81754	0.467000	0.42956	GCG		0.627	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	22	0	0	0	1	0	5	22				
KPNA5	3841	broad.mit.edu	37	6	117043316	117043316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:117043316C>T	ENST00000368564.1	+	9	932	c.784C>T	c.(784-786)Cga>Tga	p.R262*	KPNA5_ENST00000356348.1_Nonsense_Mutation_p.R262*			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	259					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGTCCTGTCACGACTGTTGTT	0.373																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(784-786)Cga>Tga		karyopherin alpha 5 (importin alpha 6)							159.0	139.0	146.0					6																	117043316		2203	4300	6503	SO:0001587	stop_gained	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117043316C>T	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.784C>T	6.37:g.117043316C>T	ENSP00000357552:p.Arg262*					KPNA5_ENST00000356348.1_Nonsense_Mutation_p.R262*	p.R262*			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	9	932	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	259					B2RAI5|Q86X23	Nonsense_Mutation	SNP	ENST00000368564.1	37	c.784C>T	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749668	0.96890	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	.	.	.	5.81	2.67	0.31697	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6976	0.45907	0.2915:0.6345:0.0:0.074	.	.	.	.	X	262	.	ENSP00000348704:R262X	R	+	1	2	KPNA5	117150009	0.999000	0.42202	0.983000	0.44433	0.990000	0.78478	1.149000	0.31626	0.743000	0.32719	0.650000	0.86243	CGA		0.373	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		25	61	0	0	0	1	0	25	61				
PDE6B	5158	broad.mit.edu	37	4	650773	650773	+	Silent	SNP	C	C	T	rs148190219		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:650773C>T	ENST00000496514.1	+	9	1239	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.D406D|PDE6B_ENST00000429163.2_Silent_p.D127D|RP11-1191J2.2_ENST00000489312.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	406	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACAGGAAAGACGGGAAGCCCT	0.587																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1216-1218)gaC>gaT		phosphodiesterase 6B, cGMP-specific, rod, beta			,,	1,4405	2.1+/-5.4	0,1,2202	77.0	68.0	71.0		1218,1218,381	-4.2	0.9	4	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE6B	NM_000283.3,NM_001145291.1,NM_001145292.1	,,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,,	406/855,406/854,127/576	650773	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:650773C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1218C>T	4.37:g.650773C>T						PDE6B_ENST00000496514.1_Silent_p.D406D|PDE6B_ENST00000429163.2_Silent_p.D127D	p.D406D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			9	1261	+			406			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1218C>T	CCDS33932.1																																																																																				0.587	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		9	23	0	0	0	1	0	9	23				
RBM4B	83759	broad.mit.edu	37	11	66436508	66436508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66436508G>A	ENST00000525754.1	-	2	1335	c.667C>T	c.(667-669)Cga>Tga	p.R223*	RBM4B_ENST00000310046.4_Nonsense_Mutation_p.R223*|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	223	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ACCCGGTATCGCTTATAGTAG	0.507																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(667-669)Cga>Tga		RNA binding motif protein 4B							100.0	90.0	93.0					11																	66436508		2200	4295	6495	SO:0001587	stop_gained	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436508G>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.667C>T	11.37:g.66436508G>A	ENSP00000433071:p.Arg223*					RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Nonsense_Mutation_p.R223*|RBM4B_ENST00000524637.1_3'UTR	p.R223*			Q9BQ04	RBM4B_HUMAN			2	1335	-			223			Interaction with TNPO3 (By similarity).		B3KT83	Nonsense_Mutation	SNP	ENST00000525754.1	37	c.667C>T	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609072	0.96637	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	.	.	.	5.4	5.4	0.78164	.	0.047523	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-24.4996	18.1095	0.89530	0.0:0.0:1.0:0.0	.	.	.	.	X	223	.	ENSP00000310471:R223X	R	-	1	2	RBM4B	66193084	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.870000	0.48451	2.822000	0.97130	0.650000	0.86243	CGA		0.507	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		15	18	0	0	0	1	0	15	18				
SLC25A18	83733	broad.mit.edu	37	22	18072396	18072396	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18072396C>T	ENST00000327451.6	+	10	1309	c.771C>T	c.(769-771)ggC>ggT	p.G257G	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.G257G	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	257						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		AAGGCCTGGGCGAGGACATGT	0.507																																					Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.5																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(769-771)ggC>ggT		solute carrier family 25 (glutamate carrier), member 18	L-Glutamic Acid(DB00142)						85.0	79.0	81.0					22																	18072396		2203	4300	6503	SO:0001819	synonymous_variant	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18072396C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.771C>T	22.37:g.18072396C>T						SLC25A18_ENST00000399813.1_Silent_p.G257G	p.G257G	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	10	1309	+			257						Silent	SNP	ENST00000327451.6	37	c.771C>T	CCDS13744.1																																																																																				0.507	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		10	15	0	0	0	1	0	10	15				
TTC21B	79809	broad.mit.edu	37	2	166785667	166785667	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166785667T>C	ENST00000243344.7	-	11	1501	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	455					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GAAGCTCAGATACTCCATAAC	0.348																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(1363-1365)tAt>tGt		tetratricopeptide repeat domain 21B							53.0	55.0	54.0					2																	166785667		2202	4298	6500	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166785667T>C	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1364A>G	2.37:g.166785667T>C	ENSP00000243344:p.Tyr455Cys						p.Y455C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			11	1501	-			455					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.1364A>G	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	t	17.22	3.334823	0.60853	.	.	ENSG00000123607	ENST00000243344	T	0.64991	-0.13	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.962	T	0.82394	-0.0479	10	0.51188	T	0.08	-16.1314	15.6905	0.77446	0.0:0.0:0.0:1.0	.	455;455	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	C	455	ENSP00000243344:Y455C	ENSP00000243344:Y455C	Y	-	2	0	TTC21B	166493913	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.694000	0.84235	2.170000	0.68504	0.529000	0.55759	TAT		0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		16	18	0	0	0	1	0	16	18				
NLRP11	204801	broad.mit.edu	37	19	56307518	56307518	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56307518G>A	ENST00000589093.1	-	6	2363	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	NLRP11_ENST00000443188.1_Missense_Mutation_p.P757L|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658L|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703L|NLRP11_ENST00000360133.3_Missense_Mutation_p.P703L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	757							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCTCCTCAGCGGATTGCTGGA	0.498																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2269-2271)cCg>cTg		NLR family, pyrin domain containing 11							191.0	168.0	176.0					19																	56307518		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56307518G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2270C>T	19.37:g.56307518G>A	ENSP00000466285:p.Pro757Leu					NLRP11_ENST00000589093.1_Missense_Mutation_p.P757L|NLRP11_ENST00000592953.1_Missense_Mutation_p.P658L|NLRP11_ENST00000360133.3_Missense_Mutation_p.P703L|NLRP11_ENST00000589824.2_Missense_Mutation_p.P703L	p.P757L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2980	-		Colorectal(82;0.0002)	757					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2270C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087770	0.20390	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.13089	2.62;2.62	2.58	-4.08	0.03963	.	.	.	.	.	T	0.14399	0.0348	L	0.60957	1.885	0.09310	N	1	P;D	0.56035	0.796;0.974	B;P	0.48454	0.195;0.578	T	0.10800	-1.0614	9	0.31617	T	0.26	.	4.8849	0.13697	0.1283:0.0:0.2501:0.6215	.	757;703	P59045;P59045-2	NAL11_HUMAN;.	L	757;703	ENSP00000409898:P757L;ENSP00000353251:P703L	ENSP00000353251:P703L	P	-	2	0	NLRP11	60999330	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.714000	0.01881	-0.730000	0.04869	0.609000	0.83330	CCG		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		52	78	0	0	0	1	0	52	78				
RHO	6010	broad.mit.edu	37	3	129251457	129251457	+	Missense_Mutation	SNP	G	G	A	rs150250946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129251457G>A	ENST00000296271.3	+	4	872	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	260					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.A260T(2)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CATGGTCATCGCTTTCCTGAT	0.602																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			2	Substitution - Missense(2)	p.A260T(2)	large_intestine(1)|pancreas(1)	breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(778-780)Gct>Act		rhodopsin	Halothane(DB01159)	G	THR/ALA	0,4406		0,0,2203	227.0	163.0	185.0		778	4.6	0.0	3	dbSNP_134	185	2,8598	2.2+/-6.3	0,2,4298	no	missense	RHO	NM_000539.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	260/349	129251457	2,13004	2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251457G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.778G>A	3.37:g.129251457G>A	ENSP00000296271:p.Ala260Thr						p.A260T	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	872	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	260					Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.778G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781297	0.49891	0.0	2.33E-4	ENSG00000163914	ENST00000296271	T	0.72394	-0.65	5.51	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.426739	0.26149	N	0.026057	T	0.69806	0.3152	M	0.85299	2.745	0.31181	N	0.702011	P	0.35656	0.514	B	0.22601	0.04	T	0.75662	-0.3240	10	0.87932	D	0	.	12.937	0.58320	0.0:0.0:0.4963:0.5037	.	260	P08100	OPSD_HUMAN	T	260	ENSP00000296271:A260T	ENSP00000296271:A260T	A	+	1	0	RHO	130734147	0.753000	0.28349	0.030000	0.17652	0.991000	0.79684	1.724000	0.38064	1.112000	0.41740	0.561000	0.74099	GCT		0.602	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		17	22	0	0	0	1	0	17	22				
MIR520A	574467	broad.mit.edu	37	19	54191763	54191763	+	RNA	SNP	G	G	A	rs199506848		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54191763G>A	ENST00000384862.1	+	0	0				MIR519C_ENST00000385053.1_RNA|MIR1283-1_ENST00000408494.1_RNA	NR_030189.1				microRNA 520a																		AAAGGAAAGCGCTTTCTGTTG	0.408																																						ENST00000408494.1																			0																				117.0	105.0	109.0					19																	54191763		1568	3582	5150			0							g.chr19:54191763G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207594	ENSG00000207594		"""ncRNAs / Micro RNAs"""	32099	non-coding RNA	RNA, micro				MIRN520A			Standard	NR_030189		Approved	hsa-mir-520a	uc021uzs.1				19.37:g.54191763G>A								NR_031573.1						0	29	+									RNA	SNP	ENST00000384862.1	37																																																																																						0.408	MIR520A-201	KNOWN	basic	miRNA	miRNA		NR_030189		48	61	0	0	0	1	0	48	61				
PRPF8	10594	broad.mit.edu	37	17	1584933	1584933	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1584933C>T	ENST00000572621.1	-	5	970	c.705G>A	c.(703-705)atG>atA	p.M235I	PRPF8_ENST00000304992.6_Missense_Mutation_p.M235I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	235					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGAGAGTCGACATCATAGGTA	0.478																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(703-705)atG>atA		pre-mRNA processing factor 8							138.0	134.0	135.0					17																	1584933		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1584933C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.705G>A	17.37:g.1584933C>T	ENSP00000460348:p.Met235Ile					PRPF8_ENST00000304992.6_Missense_Mutation_p.M235I	p.M235I			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	5	970	-			235					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.705G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714963	0.68844	.	.	ENSG00000174231	ENST00000304992	D	0.81499	-1.5	5.84	5.84	0.93424	Pre-mRNA-processing-splicing factor 8 (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.75085	2.285	0.80722	D	1	B	0.19706	0.038	B	0.19148	0.024	T	0.77675	-0.2499	10	0.49607	T	0.09	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	235	Q6P2Q9	PRP8_HUMAN	I	235	ENSP00000304350:M235I	ENSP00000304350:M235I	M	-	3	0	PRPF8	1531683	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.792000	0.85828	2.763000	0.94921	0.650000	0.86243	ATG		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			26	62	0	0	0	1	0	26	62				
TENC1	23371	broad.mit.edu	37	12	53452870	53452870	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53452870C>A	ENST00000314250.6	+	18	1735	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	TENC1_ENST00000451358.1_Missense_Mutation_p.P482H|TENC1_ENST00000379902.3_Missense_Mutation_p.P358H|TENC1_ENST00000552570.1_Missense_Mutation_p.P482H|TENC1_ENST00000549700.1_Missense_Mutation_p.P482H|TENC1_ENST00000314276.3_Missense_Mutation_p.P492H|TENC1_ENST00000546602.1_Missense_Mutation_p.P482H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	482					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GATGGCAGTCCTTATGCCCAG	0.667																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1444-1446)cCt>cAt		tensin like C1 domain containing phosphatase (tensin 2)							50.0	58.0	55.0					12																	53452870		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452870C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1445C>A	12.37:g.53452870C>A	ENSP00000319684:p.Pro482His					TENC1_ENST00000451358.1_Missense_Mutation_p.P482H|TENC1_ENST00000546602.1_Missense_Mutation_p.P482H|TENC1_ENST00000549700.1_Missense_Mutation_p.P482H|TENC1_ENST00000552570.1_Missense_Mutation_p.P482H|TENC1_ENST00000379902.3_Missense_Mutation_p.P358H|TENC1_ENST00000314276.3_Missense_Mutation_p.P492H	p.P482H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1735	+			482					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1445C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846039	0.71603	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94417	-3.41;-3.42;-3.41;-3.41;-3.41;-3.41;-3.42	4.74	4.74	0.60224	.	0.076668	0.56097	D	0.000040	D	0.92208	0.7529	N	0.08118	0	0.35425	D	0.793549	D;D	0.76494	0.999;0.999	D;D	0.71870	0.945;0.975	D	0.93562	0.6896	10	0.62326	D	0.03	.	9.2829	0.37740	0.0:0.9004:0.0:0.0996	.	482;492	Q63HR2;Q63HR2-4	TENC1_HUMAN;.	H	358;492;482;482;482;482;482;482	ENSP00000369232:P358H;ENSP00000319756:P492H;ENSP00000319684:P482H;ENSP00000393362:P482H;ENSP00000449363:P482H;ENSP00000447021:P482H;ENSP00000449361:P482H	ENSP00000319684:P482H	P	+	2	0	TENC1	51739137	0.994000	0.37717	1.000000	0.80357	0.981000	0.71138	2.686000	0.46968	2.357000	0.79964	0.561000	0.74099	CCT		0.667	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		39	35	1	0	4.17593e-13	1	4.53019e-13	39	35				
NLRP9	338321	broad.mit.edu	37	19	56228221	56228221	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56228221C>T	ENST00000332836.2	-	5	2230	c.2203G>A	c.(2203-2205)Gcc>Acc	p.A735T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	735						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGGACGGAGGCGATGTCTTCA	0.493																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2203-2205)Gcc>Acc		NLR family, pyrin domain containing 9							184.0	146.0	159.0					19																	56228221		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56228221C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2203G>A	19.37:g.56228221C>T	ENSP00000331857:p.Ala735Thr						p.A735T	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	5	2230	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	735					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2203G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073173	0.36566	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.15256	2.44	2.51	-0.967	0.10316	.	.	.	.	.	T	0.23330	0.0564	M	0.72479	2.2	0.09310	N	1	D	0.65815	0.995	P	0.52159	0.691	T	0.13282	-1.0515	9	0.56958	D	0.05	.	2.4865	0.04600	0.2323:0.4943:0.0:0.2734	.	735	Q7RTR0	NALP9_HUMAN	T	735	ENSP00000331857:A735T	ENSP00000331857:A735T	A	-	1	0	NLRP9	60920033	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.703000	0.05063	-0.084000	0.12595	-0.190000	0.12839	GCC		0.493	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		17	29	0	0	0	1	0	17	29				
POMT1	10585	broad.mit.edu	37	9	134385176	134385176	+	Missense_Mutation	SNP	G	G	A	rs199498900		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134385176G>A	ENST00000372228.3	+	7	765	c.586G>A	c.(586-588)Gct>Act	p.A196T	POMT1_ENST00000354713.4_Missense_Mutation_p.A166T|POMT1_ENST00000402686.3_Missense_Mutation_p.A196T|POMT1_ENST00000423007.1_Missense_Mutation_p.A196T|POMT1_ENST00000341012.7_Missense_Mutation_p.A142T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.A79T|POMT1_ENST00000419118.2_Missense_Mutation_p.A44T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	196					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GACAGGGGTCGCTTGTTCCTG	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19201	0.0		0.0	False		,,,				2504	0.0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(586-588)Gct>Act		protein-O-mannosyltransferase 1							240.0	210.0	220.0					9																	134385176		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134385176G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.586G>A	9.37:g.134385176G>A	ENSP00000361302:p.Ala196Thr					POMT1_ENST00000354713.4_Missense_Mutation_p.A166T|POMT1_ENST00000419118.2_Missense_Mutation_p.A44T|POMT1_ENST00000341012.7_Missense_Mutation_p.A142T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.A79T|POMT1_ENST00000372228.3_Missense_Mutation_p.A196T|POMT1_ENST00000402686.3_Missense_Mutation_p.A196T	p.A196T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	7	1028	+		Myeloproliferative disorder(178;0.204)	196					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.586G>A	CCDS6943.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.012	0.370557	0.11352	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000354713;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.63	1.01	0.19927	Glycosyl transferase, family 39 (1);	0.377447	0.31113	N	0.008240	D	0.88463	0.6443	M	0.80183	2.485	0.09310	N	1	B;P;B	0.52463	0.35;0.953;0.301	B;P;B	0.47251	0.244;0.542;0.103	T	0.82026	-0.0661	10	0.30078	T	0.28	-3.2307	15.8765	0.79166	0.0:0.0:0.4389:0.5611	.	166;196;196	B4DTW4;Q9Y6A1;Q9Y6A1-2	.;POMT1_HUMAN;.	T	196;79;142;79;196;196;44;166;142;79	ENSP00000404119:A196T;ENSP00000384531:A79T;ENSP00000343034:A142T;ENSP00000395060:A79T;ENSP00000361302:A196T;ENSP00000385797:A196T;ENSP00000403032:A44T;ENSP00000346748:A166T;ENSP00000403736:A142T;ENSP00000402083:A79T	ENSP00000343034:A142T	A	+	1	0	POMT1	133374997	0.985000	0.35326	0.004000	0.12327	0.014000	0.08584	2.182000	0.42556	0.268000	0.21939	-0.310000	0.09108	GCT		0.468	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		50	84	0	0	0	1	0	50	84				
WHSC1	7468	broad.mit.edu	37	4	1976605	1976605	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1976605G>A	ENST00000382895.3	+	21	3819	c.3388G>A	c.(3388-3390)Gct>Act	p.A1130T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A1130T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A1130T|WHSC1_ENST00000382888.3_Missense_Mutation_p.A478T|WHSC1_ENST00000482415.2_3'UTR|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.A1130T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1130	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TATAATAGACGCTGGCCCCAA	0.448			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3388-3390)Gct>Act		Wolf-Hirschhorn syndrome candidate 1							114.0	115.0	115.0					4																	1976605		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976605G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3388G>A	4.37:g.1976605G>A	ENSP00000372351:p.Ala1130Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A1130T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A1130T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A1130T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A478T	p.A1130T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3819	+		all_epithelial(65;1.34e-05)	1130			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3388G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973124	0.92919	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	4.96	4.96	0.65561	SET domain (3);	0.000000	0.52532	D	0.000077	D	0.98074	0.9365	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	.	18.3824	0.90455	0.0:0.0:1.0:0.0	.	478;1130	A2A2T2;O96028	.;NSD2_HUMAN	T	1130;1130;1130;1130;478	ENSP00000423972:A1130T;ENSP00000372347:A1130T;ENSP00000372348:A1130T;ENSP00000372351:A1130T;ENSP00000372344:A478T	ENSP00000372344:A478T	A	+	1	0	WHSC1	1946403	1.000000	0.71417	0.980000	0.43619	0.704000	0.40688	9.575000	0.98187	2.587000	0.87381	0.467000	0.42956	GCT		0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	72	0	0	0	1	0	6	72				
SPATA31D5P	347127	broad.mit.edu	37	9	84533090	84533090	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84533090G>A	ENST00000527857.1	+	0	3112					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GTGCCTCCACGCCCCTTAGAA	0.463																																						ENST00000527857.1																			0																																																			0							g.chr9:84533090G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533090G>A								NR_026851.1						0	3112	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.463	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		9	14	0	0	0	1	0	9	14				
HMGCLL1	54511	broad.mit.edu	37	6	55381397	55381397	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:55381397G>A	ENST00000398661.2	-	5	523	c.392C>T	c.(391-393)gCt>gTt	p.A131V	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A101V|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	131					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTGTGATCAGCCATCTTAAA	0.358																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(391-393)gCt>gTt		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							116.0	117.0	117.0					6																	55381397		1857	4105	5962	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55381397G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.392C>T	6.37:g.55381397G>A	ENSP00000381654:p.Ala131Val					HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A101V|HMGCLL1_ENST00000428842.1_Intron	p.A131V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	523	-	Lung NSC(77;0.0875)		131					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.392C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761024	0.89932	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.98105	-4.72;-4.72	5.51	4.64	0.57946	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.379952	0.28895	N	0.013789	D	0.98820	0.9602	H	0.95745	3.715	0.80722	D	1	P;P	0.45569	0.661;0.861	P;P	0.59825	0.571;0.864	D	0.99399	1.0927	10	0.87932	D	0	-29.4556	14.1021	0.65062	0.0725:0.0:0.9275:0.0	.	101;131	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	V	101;131	ENSP00000274901:A101V;ENSP00000381654:A131V	ENSP00000274901:A101V	A	-	2	0	HMGCLL1	55489356	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.930000	0.87610	1.331000	0.45412	0.591000	0.81541	GCT		0.358	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		19	42	0	0	0	1	0	19	42				
KCTD5	54442	broad.mit.edu	37	16	2752452	2752452	+	Silent	SNP	G	G	A	rs530216796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2752452G>A	ENST00000301738.4	+	5	722	c.648G>A	c.(646-648)acG>acA	p.T216T	KCTD5_ENST00000564195.1_Missense_Mutation_p.G186S	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	216					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CGTACGGTACGGCCAGCGAGC	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		17165	0.0		0.0	False		,,,				2504	0.001				Ovarian(56;981 1456 4301 50892)	ENST00000564195.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(556-558)Ggc>Agc		potassium channel tetramerization domain containing 5							70.0	62.0	65.0					16																	2752452		2197	4300	6497	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2752452G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.648G>A	16.37:g.2752452G>A						KCTD5_ENST00000301738.4_Silent_p.T216T	p.G186S			Q9NXV2	KCTD5_HUMAN			4	565	+			0					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.556G>A	CCDS10475.1																																																																																				0.622	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		6	29	0	0	0	1	0	6	29				
PAQR4	124222	broad.mit.edu	37	16	3021331	3021331	+	Missense_Mutation	SNP	C	C	T	rs369368361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3021331C>T	ENST00000318782.8	+	2	770	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	PAQR4_ENST00000576565.1_Missense_Mutation_p.R47W|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.R75W|PAQR4_ENST00000574988.1_Missense_Mutation_p.R47W|PAQR4_ENST00000572687.1_Intron|PKMYT1_ENST00000431515.2_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	114						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGTGTACGCCCGGCTCCTCGC	0.652																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(340-342)Cgg>Tgg		progestin and adipoQ receptor family member IV		C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	67.0	65.0	66.0		340	4.7	1.0	16		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR4	NM_152341.3	101	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	114/274	3021331	2,12994	2198	4300	6498	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021331C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.340C>T	16.37:g.3021331C>T	ENSP00000321804:p.Arg114Trp					PAQR4_ENST00000574988.1_Missense_Mutation_p.R47W|PAQR4_ENST00000576565.1_Missense_Mutation_p.R47W|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.R75W|PAQR4_ENST00000572687.1_Intron	p.R114W	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			2	770	+			114					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.340C>T	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658544	0.67586	2.27E-4	1.16E-4	ENSG00000162073	ENST00000318782	T	0.29142	1.58	4.72	4.72	0.59763	.	0.224693	0.37012	N	0.002290	T	0.36054	0.0953	N	0.25332	0.735	0.35460	D	0.79642	D;D	0.76494	0.996;0.999	P;D	0.63192	0.624;0.912	T	0.41378	-0.9512	10	0.37606	T	0.19	-22.4788	10.4453	0.44490	0.1949:0.8051:0.0:0.0	.	75;114	Q8N4S7-2;Q8N4S7	.;PAQR4_HUMAN	W	114	ENSP00000321804:R114W	ENSP00000321804:R114W	R	+	1	2	PAQR4	2961332	0.998000	0.40836	1.000000	0.80357	0.781000	0.44180	3.789000	0.55454	2.169000	0.68431	0.457000	0.33378	CGG		0.652	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		24	46	0	0	0	1	0	24	46				
LIMK2	3985	broad.mit.edu	37	22	31662048	31662048	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31662048A>G	ENST00000331728.4	+	8	1085	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	LIMK2_ENST00000406516.1_Missense_Mutation_p.Q246R|LIMK2_ENST00000444929.2_Missense_Mutation_p.Q78R|LIMK2_ENST00000340552.4_Missense_Mutation_p.Q303R|LIMK2_ENST00000333611.4_Missense_Mutation_p.Q303R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	324					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TATTCACAGCAGATCTTCCGG	0.577																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(970-972)cAg>cGg		LIM domain kinase 2							97.0	94.0	95.0					22																	31662048		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31662048A>G	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.971A>G	22.37:g.31662048A>G	ENSP00000332687:p.Gln324Arg					LIMK2_ENST00000406516.1_Missense_Mutation_p.Q246R|LIMK2_ENST00000444929.2_Missense_Mutation_p.Q78R|LIMK2_ENST00000333611.4_Missense_Mutation_p.Q303R|LIMK2_ENST00000340552.4_Missense_Mutation_p.Q303R	p.Q324R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			8	1085	+			324					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.971A>G	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	A	6.894	0.534549	0.13188	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.15	5.15	0.70609	Protein kinase-like domain (1);	0.055725	0.85682	D	0.000000	T	0.74419	0.3714	N	0.05230	-0.09	0.45025	D	0.998049	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.0;0.002	B;B;B;B;B	0.09377	0.002;0.001;0.001;0.001;0.004	T	0.70085	-0.4969	10	0.02654	T	1	-32.5019	14.4623	0.67459	1.0:0.0:0.0:0.0	.	356;303;78;324;246	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	R	246;78;324;356;303;303	ENSP00000384602:Q246R;ENSP00000409522:Q78R;ENSP00000332687:Q324R;ENSP00000330470:Q303R;ENSP00000339916:Q303R	ENSP00000332687:Q324R	Q	+	2	0	LIMK2	29992048	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.619000	0.61218	2.071000	0.62044	0.383000	0.25322	CAG		0.577	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	49	0	0	0	1	0	3	49				
NUP210	23225	broad.mit.edu	37	3	13361408	13361408	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13361408T>C	ENST00000254508.5	-	37	5320	c.5238A>G	c.(5236-5238)acA>acG	p.T1746T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1746					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGACCGTGTATGTGATGAAGC	0.617																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5236-5238)acA>acG		nucleoporin 210kDa							57.0	60.0	59.0					3																	13361408		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13361408T>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5238A>G	3.37:g.13361408T>C							p.T1746T	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			37	5320	-	all_neural(104;0.187)		1746					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.5238A>G	CCDS33704.1																																																																																				0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		15	28	0	0	0	1	0	15	28				
PSMB2	5690	broad.mit.edu	37	1	36101917	36101917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36101917G>A	ENST00000373237.3	-	2	619	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	CCACCATTTCGCATCTTATAA	0.388																																						ENST00000373237.3																			0				endometrium(1)|large_intestine(2)	3						c.(208-210)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 2	Bortezomib(DB00188)						128.0	119.0	122.0					1																	36101917		2202	4300	6502	SO:0001587	stop_gained	5690				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:36101917G>A	D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"""Proteasome (prosome, macropain) subunits"""	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.208C>T	1.37:g.36101917G>A	ENSP00000362334:p.Arg70*						p.R70*	NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN			2	619	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	70					D3DPS0|P31145|Q9BWZ9	Nonsense_Mutation	SNP	ENST00000373237.3	37	c.208C>T	CCDS394.1	.	.	.	.	.	.	.	.	.	.	G	38	7.128449	0.98081	.	.	ENSG00000126067	ENST00000373237	.	.	.	5.06	0.812	0.18744	.	0.049719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8466	0.78899	0.0:0.0:0.3077:0.6923	.	.	.	.	X	70	.	ENSP00000362334:R70X	R	-	1	2	PSMB2	35874504	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.067000	0.41461	-0.011000	0.14247	-0.309000	0.09137	CGA		0.388	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012016.1	NM_002794		21	37	0	0	0	1	0	21	37				
ZP3	7784	broad.mit.edu	37	7	76054468	76054468	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:76054468G>A	ENST00000394857.3	+	1	245	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	ZP3_ENST00000336517.4_Missense_Mutation_p.G12R	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	63	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TTTTGGCACCGGGAAGCTCAT	0.587																																						ENST00000336517.4																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(34-36)Ggg>Agg		zona pellucida glycoprotein 3 (sperm receptor)							69.0	54.0	59.0					7																	76054468		2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054468G>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.187G>A	7.37:g.76054468G>A	ENSP00000378326:p.Gly63Arg					ZP3_ENST00000394857.3_Missense_Mutation_p.G63R	p.G12R	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN			2	380	+			63					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.34G>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154111	0.38021	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.83914	-1.78;-1.78	5.06	4.19	0.49359	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.92026	3.265	0.80722	D	1	B	0.24317	0.101	B	0.24394	0.053	D	0.85271	0.1056	10	0.72032	D	0.01	-46.8942	11.5265	0.50582	0.0873:0.0:0.9127:0.0	.	63	P21754	ZP3_HUMAN	R	12;63;63	ENSP00000337310:G12R;ENSP00000378326:G63R	ENSP00000337310:G12R	G	+	1	0	ZP3	75892404	1.000000	0.71417	0.925000	0.36789	0.030000	0.12068	4.499000	0.60380	1.375000	0.46248	-0.444000	0.05651	GGG		0.587	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			9	12	0	0	0	1	0	9	12				
DKK1	22943	broad.mit.edu	37	10	54074735	54074735	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:54074735G>A	ENST00000373970.3	+	2	435	c.296G>A	c.(295-297)aGt>aAt	p.S99N	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	99	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TACTGCGCTAGTCCCACCCGC	0.642											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(295-297)aGt>aAt		dickkopf WNT signaling pathway inhibitor 1							41.0	35.0	37.0					10																	54074735		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074735G>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.296G>A	10.37:g.54074735G>A	ENSP00000363081:p.Ser99Asn		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	DKK1_ENST00000467359.1_3'UTR	p.S99N	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN			2	435	+			99			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.296G>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947083	0.53186	.	.	ENSG00000107984	ENST00000373970	T	0.46063	0.88	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.313122	0.40222	N	0.001155	T	0.43942	0.1270	M	0.71581	2.175	0.28931	N	0.891546	B	0.25772	0.134	B	0.27170	0.077	T	0.42481	-0.9449	10	0.39692	T	0.17	-10.9349	12.5476	0.56208	0.0803:0.0:0.9197:0.0	.	99	O94907	DKK1_HUMAN	N	99	ENSP00000363081:S99N	ENSP00000363081:S99N	S	+	2	0	DKK1	53744741	0.003000	0.15002	0.670000	0.29842	0.986000	0.74619	1.468000	0.35332	2.639000	0.89480	0.650000	0.86243	AGT		0.642	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			8	19	0	0	0	1	0	8	19				
NAV3	89795	broad.mit.edu	37	12	78362427	78362427	+	Missense_Mutation	SNP	G	G	A	rs34739021		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78362427G>A	ENST00000397909.2	+	5	789	c.616G>A	c.(616-618)Gct>Act	p.A206T	NAV3_ENST00000266692.7_Missense_Mutation_p.A206T|NAV3_ENST00000536525.2_Missense_Mutation_p.A206T|NAV3_ENST00000228327.6_Missense_Mutation_p.A206T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	206						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTACTCACGCTTCCCCTCC	0.473										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(616-618)Gct>Act		neuron navigator 3		G	THR/ALA	0,3980		0,0,1990	66.0	70.0	69.0		616	-3.8	0.0	12	dbSNP_126	69	1,8351		0,1,4175	yes	missense	NAV3	NM_014903.4	58	0,1,6165	AA,AG,GG		0.012,0.0,0.0081	benign	206/2364	78362427	1,12331	1990	4176	6166	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362427G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.616G>A	12.37:g.78362427G>A	ENSP00000381007:p.Ala206Thr	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.A206T|NAV3_ENST00000536525.2_Missense_Mutation_p.A206T|NAV3_ENST00000228327.6_Missense_Mutation_p.A206T	p.A206T			Q8IVL0	NAV3_HUMAN			5	789	+			206					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.616G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.423|1.423	-0.572458|-0.572458	0.03882|0.03882	0.0|0.0	1.2E-4|1.2E-4	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29;0.29|.	5.5|5.5	-3.8|-3.8	0.04307|0.04307	Calponin homology domain (1);|.	0.450146|.	0.15741|.	N|.	0.246933|.	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.16896|.	T|.	0.51|.	-0.8304|-0.8304	0.3723|0.3723	0.00381|0.00381	0.3287:0.1319:0.2327:0.3067|0.3287:0.1319:0.2327:0.3067	.|.	206;206|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	T|H	206|52	ENSP00000446628:A206T;ENSP00000446132:A206T;ENSP00000381007:A206T;ENSP00000228327:A206T;ENSP00000266692:A206T|.	ENSP00000228327:A206T|.	A|R	+|+	1|2	0|0	NAV3|NAV3	76886558|76886558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-1.230000|-1.230000	0.02942|0.02942	-0.350000|-0.350000	0.08262|0.08262	-0.934000|-0.934000	0.02701|0.02701	GCT|CGC		0.473	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	22	0	0	0	1	0	25	22				
RPL35A	6165	broad.mit.edu	37	3	197678115	197678115	+	Missense_Mutation	SNP	G	G	A	rs116840808		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197678115G>A	ENST00000464167.1	+	3	364	c.97G>A	c.(97-99)Gtt>Att	p.V33I	RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000453254.1_5'Flank|IQCG_ENST00000265239.6_Intron|IQCG_ENST00000480302.1_Intron|RPL35A_ENST00000448864.1_Missense_Mutation_p.V33I|IQCG_ENST00000455191.1_5'Flank	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	ribosomal protein L35a	33			V -> I (in DBA5; may result in aberrant splicing). {ECO:0000269|PubMed:18535205}.		cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|tRNA binding (GO:0000049)			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		AATTGAAGGTGTTTACGCCCG	0.428																																						ENST00000464167.1																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(97-99)Gtt>Att		ribosomal protein L35a							71.0	72.0	71.0					3																	197678115		2203	4300	6503	SO:0001583	missense	6165				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding	g.chr3:197678115G>A	X52966	CCDS33930.1	3q29	2011-04-06			ENSG00000182899	ENSG00000182899		"""L ribosomal proteins"""	10345	protein-coding gene	gene with protein product		180468				1577483, 8786106	Standard	NM_000996		Approved	L35A	uc003fyr.3	P18077	OTTHUMG00000155386	ENST00000464167.1:c.97G>A	3.37:g.197678115G>A	ENSP00000419117:p.Val33Ile					RPL35A_ENST00000448864.1_Missense_Mutation_p.V33I|RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000480302.1_Intron|IQCG_ENST00000265239.6_Intron	p.V33I	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)	3	364	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	33		V -> I (in DBA5; may result in aberrant splicing).			Q08ES9|Q9BVN7	Missense_Mutation	SNP	ENST00000464167.1	37	c.97G>A	CCDS33930.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900538	0.92035	.	.	ENSG00000182899	ENST00000464167;ENST00000448864;ENST00000442341	.	.	.	5.27	5.27	0.74061	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.123452	0.53938	D	0.000049	D	0.89420	0.6710	M	0.93283	3.4	0.58432	A	0.999996	B	0.27656	0.184	P	0.49361	0.608	D	0.89711	0.3912	8	0.87932	D	0	-45.7316	18.9742	0.92728	0.0:0.0:1.0:0.0	.	33	P18077	RL35A_HUMAN	I	33	.	ENSP00000398058:V33I	V	+	1	0	RPL35A	199162512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.002000	0.63952	2.489000	0.83994	0.650000	0.86243	GTT		0.428	RPL35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339788.1	NM_000996		23	40	0	0	0	1	0	23	40				
CLCN7	1186	broad.mit.edu	37	16	1498404	1498404	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1498404C>T	ENST00000382745.4	-	21	2570	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Silent_p.A631A|CLCN7_ENST00000448525.1_Silent_p.A631A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	655	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTGATTGGACGCCGTGTCGC	0.647																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1963-1965)gcG>gcA		chloride channel, voltage-sensitive 7							89.0	65.0	73.0					16																	1498404		2197	4297	6494	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498404C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1965G>A	16.37:g.1498404C>T						CLCN7_ENST00000262318.8_Silent_p.A631A|CLCN7_ENST00000448525.1_Silent_p.A631A	p.A655A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2570	-		Hepatocellular(780;0.0893)	655			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1965G>A	CCDS32361.1																																																																																				0.647	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		17	15	0	0	0	1	0	17	15				
FGFR2	2263	broad.mit.edu	37	10	123310804	123310804	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123310804C>A	ENST00000358487.5	-	5	896	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FGFR2_ENST00000369060.4_Splice_Site_p.K208N|FGFR2_ENST00000369061.4_Splice_Site_p.K208N|FGFR2_ENST00000457416.2_Splice_Site_p.K208N|FGFR2_ENST00000369059.1_Splice_Site_p.K93N|FGFR2_ENST00000359354.2_Splice_Site_p.K208N|FGFR2_ENST00000357555.5_Splice_Site_p.K119N|FGFR2_ENST00000369056.1_Splice_Site_p.K208N|FGFR2_ENST00000356226.4_Splice_Site_p.K93N|FGFR2_ENST00000360144.3_Splice_Site_p.K119N|FGFR2_ENST00000346997.2_Splice_Site_p.K208N|FGFR2_ENST00000351936.6_Splice_Site_p.K208N|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	208	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTAATTCTACCTTGTAGCCTC	0.448		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.e5+1		fibroblast growth factor receptor 2	Palifermin(DB00039)						118.0	115.0	116.0					10																	123310804		2203	4300	6503	SO:0001630	splice_region_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123310804C>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.624+1G>T	10.37:g.123310804C>A						FGFR2_ENST00000369060.4_Splice_Site_p.K208_splice|FGFR2_ENST00000356226.4_Splice_Site_p.K93_splice|FGFR2_ENST00000359354.2_Splice_Site_p.K208_splice|FGFR2_ENST00000457416.2_Splice_Site_p.K208_splice|FGFR2_ENST00000369061.4_Splice_Site_p.K208_splice|FGFR2_ENST00000360144.3_Splice_Site_p.K119_splice|FGFR2_ENST00000369059.1_Splice_Site_p.K93_splice|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000357555.5_Splice_Site_p.K119_splice|FGFR2_ENST00000369056.1_Splice_Site_p.K208_splice|FGFR2_ENST00000351936.6_Splice_Site_p.K208_splice|FGFR2_ENST00000346997.2_Splice_Site_p.K208_splice	p.K208_splice	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	896	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	208			Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Splice_Site	SNP	ENST00000358487.5	37	c.624_splice	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698974	0.88830	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092939	0.64402	D	0.000001	T	0.74756	0.3758	L	0.38733	1.17	0.80722	D	1	D;P;D;D;P;P;D;D;D;D;B;P	0.89917	0.98;0.863;0.962;1.0;0.578;0.523;0.98;0.965;0.973;0.998;0.317;0.941	D;P;P;D;P;P;P;P;D;D;B;P	0.79108	0.939;0.735;0.843;0.992;0.551;0.599;0.879;0.856;0.969;0.956;0.132;0.863	T	0.73550	-0.3947	9	.	.	.	.	18.0697	0.89402	0.0:1.0:0.0:0.0	.	227;227;93;208;227;208;119;93;208;227;119;208	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	N	119;208;208;208;93;208;93;208;208;208;119;208;208;119;208	ENSP00000350166:K119N;ENSP00000358057:K208N;ENSP00000351276:K208N;ENSP00000348559:K93N;ENSP00000358056:K208N;ENSP00000358055:K93N;ENSP00000263451:K208N;ENSP00000410294:K208N;ENSP00000309878:K208N;ENSP00000353262:K119N;ENSP00000358052:K208N;ENSP00000358054:K208N;ENSP00000337665:K119N;ENSP00000352309:K208N	.	K	-	3	2	FGFR2	123300794	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.863000	0.62983	2.255000	0.74692	0.609000	0.83330	AAG		0.448	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	Missense_Mutation	28	53	1	0	5.45727e-16	1	5.98296e-16	28	53				
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	rs575967584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79.0	101.0	94.0					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		31	47	0	0	0	1	0	31	47				
FAM129A	116496	broad.mit.edu	37	1	184775093	184775093	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184775093A>G	ENST00000367511.3	-	11	1626	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	478					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TAAGACTCGGAGTTTAACCTT	0.428											OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1432-1434)cTc>cCc		family with sequence similarity 129, member A							88.0	79.0	82.0					1																	184775093		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184775093A>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1433T>C	1.37:g.184775093A>G	ENSP00000356481:p.Leu478Pro		OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1994	FAM129A_ENST00000487074.1_5'UTR	p.L478P	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			11	1626	-			478					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1433T>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872472	0.33069	.	.	ENSG00000135842	ENST00000367511	T	0.10668	2.85	4.94	3.74	0.42951	.	0.669254	0.15471	N	0.260600	T	0.21761	0.0524	L	0.50333	1.59	0.58432	D	0.999994	P;D	0.67145	0.95;0.996	P;D	0.65010	0.735;0.931	T	0.00907	-1.1519	10	0.30854	T	0.27	-12.7857	9.8068	0.40797	0.7543:0.0:0.0:0.2456	.	9;478	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	P	478	ENSP00000356481:L478P	ENSP00000356481:L478P	L	-	2	0	FAM129A	183041716	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.282000	0.43461	1.978000	0.57642	0.482000	0.46254	CTC		0.428	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			5	24	0	0	0	1	0	5	24				
NPNT	255743	broad.mit.edu	37	4	106888398	106888398	+	Missense_Mutation	SNP	C	C	T	rs371602917		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106888398C>T	ENST00000379987.2	+	11	1615	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NPNT_ENST00000514622.1_Missense_Mutation_p.R438C|NPNT_ENST00000305572.8_Missense_Mutation_p.R438C|NPNT_ENST00000506666.1_Missense_Mutation_p.R468C|NPNT_ENST00000453617.2_Missense_Mutation_p.R484C|NPNT_ENST00000427316.2_Missense_Mutation_p.R497C	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	467	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|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)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R467C(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AAAAGCTGCACGCTTGGTGCT	0.572																																						ENST00000379987.2																			1	Substitution - Missense(1)	p.R467C(1)	prostate(1)	kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1399-1401)Cgc>Tgc		nephronectin							41.0	43.0	42.0					4																	106888398		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106888398C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1399C>T	4.37:g.106888398C>T	ENSP00000369323:p.Arg467Cys					NPNT_ENST00000506666.1_Missense_Mutation_p.R468C|NPNT_ENST00000453617.2_Missense_Mutation_p.R484C|NPNT_ENST00000514622.1_Missense_Mutation_p.R438C|NPNT_ENST00000427316.2_Missense_Mutation_p.R497C|NPNT_ENST00000305572.8_Missense_Mutation_p.R438C	p.R467C	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	11	1615	+		Hepatocellular(203;0.217)	467			MAM.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1399C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719385	0.68844	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	T;T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22;4.22	4.65	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.179037	0.50627	D	0.000103	T	0.20981	0.0505	M	0.89785	3.06	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.963;0.996;0.997;0.997;0.938;0.997	T	0.07578	-1.0765	10	0.87932	D	0	.	17.8945	0.88883	0.0:1.0:0.0:0.0	.	438;468;497;484;438;467	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9	.;.;.;.;.;NPNT_HUMAN	C	467;484;497;438;438;468;514	ENSP00000369323:R467C;ENSP00000402884:R484C;ENSP00000389252:R497C;ENSP00000422044:R438C;ENSP00000302557:R438C;ENSP00000422474:R468C;ENSP00000426146:R514C	ENSP00000302557:R438C	R	+	1	0	NPNT	107107847	1.000000	0.71417	0.929000	0.37066	0.273000	0.26683	5.309000	0.65774	2.294000	0.77228	0.650000	0.86243	CGC		0.572	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		6	23	0	0	0	1	0	6	23				
PALB2	79728	broad.mit.edu	37	16	23641340	23641340	+	Missense_Mutation	SNP	G	G	A	rs141458731	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23641340G>A	ENST00000261584.4	-	5	2287	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	712			A -> V (in dbSNP:rs141458731). {ECO:0000269|PubMed:21618343}.		DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ATCATCAGGCGCAACCGTATT	0.458			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					G|||	3	0.000599042	0.0	0.0029	5008	,	,		19740	0.0		0.001	False		,,,				2504	0.0					ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2134-2136)gCg>gTg	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2		G	VAL/ALA	0,4394		0,0,2197	124.0	121.0	122.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2135	-8.6	0.0	16	dbSNP_134	122	8,8592	5.7+/-21.5	0,8,4292	yes	missense	PALB2	NM_024675.3	64	0,8,6489	AA,AG,GG		0.093,0.0,0.0616	benign	712/1187	23641340	8,12986	2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641340G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2135C>T	16.37:g.23641340G>A	ENSP00000261584:p.Ala712Val						p.A712V	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2287	-			712					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2135C>T	CCDS32406.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	12.20	1.867597	0.32977	0.0	9.3E-4	ENSG00000083093	ENST00000261584	T	0.15718	2.4	5.96	-8.63	0.00878	.	1.588580	0.03065	N	0.156450	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.21042	-1.0257	10	0.36615	T	0.2	1.4729	1.0116	0.01498	0.3584:0.293:0.1509:0.1977	.	712	Q86YC2	PALB2_HUMAN	V	712	ENSP00000261584:A712V	ENSP00000261584:A712V	A	-	2	0	PALB2	23548841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.446000	0.02398	-1.384000	0.02103	-0.751000	0.03497	GCG		0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		44	74	0	0	0	1	0	44	74				
TST	7263	broad.mit.edu	37	22	37407119	37407119	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37407119G>T	ENST00000403892.3	-	2	1577	c.843C>A	c.(841-843)cgC>cgA	p.R281R	TST_ENST00000249042.3_Silent_p.R281R|Y_RNA_ENST00000516603.1_RNA	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	281	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGGGGCCCGGCGAAACCACT	0.642																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(841-843)cgC>cgA		thiosulfate sulfurtransferase (rhodanese)							51.0	55.0	53.0					22																	37407119		2202	4300	6502	SO:0001819	synonymous_variant	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407119G>T	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.843C>A	22.37:g.37407119G>T						TST_ENST00000249042.3_Silent_p.R281R	p.R281R	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN			2	1577	-			281			Rhodanese 2.		B3KRM1|Q6IB06	Silent	SNP	ENST00000403892.3	37	c.843C>A	CCDS13938.1																																																																																				0.642	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			18	28	1	0	6.49762e-13	1	7.04361e-13	18	28				
IRAK2	3656	broad.mit.edu	37	3	10219625	10219625	+	Missense_Mutation	SNP	G	G	C	rs139025747		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10219625G>C	ENST00000256458.4	+	2	288	c.198G>C	c.(196-198)atG>atC	p.M66I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	66	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGTGGGGCATGCGGCAGGCCA	0.632																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(196-198)atG>atC		interleukin-1 receptor-associated kinase 2							69.0	62.0	64.0					3																	10219625		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219625G>C	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.198G>C	3.37:g.10219625G>C	ENSP00000256458:p.Met66Ile						p.M66I	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	288	+			66			Death.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.198G>C	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510143	0.44660	.	.	ENSG00000134070	ENST00000256458	D	0.84800	-1.9	4.97	4.97	0.65823	Death (1);DEATH-like (2);	0.098879	0.44483	D	0.000441	D	0.83298	0.5224	L	0.36672	1.1	0.36983	D	0.894398	P	0.48503	0.911	P	0.49752	0.621	D	0.85445	0.1157	10	0.38643	T	0.18	-30.907	13.7243	0.62748	0.0:0.0:1.0:0.0	.	66	O43187	IRAK2_HUMAN	I	66	ENSP00000256458:M66I	ENSP00000256458:M66I	M	+	3	0	IRAK2	10194625	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.484000	0.53201	2.307000	0.77673	0.491000	0.48974	ATG		0.632	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			18	40	0	0	0	1	0	18	40				
ATR	545	broad.mit.edu	37	3	142180885	142180885	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142180885T>C	ENST00000350721.4	-	42	7210	c.7089A>G	c.(7087-7089)cgA>cgG	p.R2363R	ATR_ENST00000383101.3_Silent_p.R2299R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2363	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGCATATGTTCGAATATGAA	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7087-7089)cgA>cgG	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							120.0	122.0	121.0					3																	142180885		2203	4298	6501	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142180885T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7089A>G	3.37:g.142180885T>C						ATR_ENST00000383101.3_Silent_p.R2299R	p.R2363R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			42	7210	-			2363			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7089A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	9.534	1.111691	0.20714	.	.	ENSG00000175054	ENST00000513291	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.48943	0.1528	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50898	-0.8773	4	.	.	.	-1.677	4.1865	0.10400	0.0:0.1842:0.1797:0.6361	.	.	.	.	D	210	.	.	N	-	1	0	ATR	143663575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.638000	0.24674	2.156000	0.67533	0.533000	0.62120	AAC		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		44	95	0	0	0	1	0	44	95				
TECTA	7007	broad.mit.edu	37	11	120980048	120980048	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120980048C>T	ENST00000392793.1	+	4	598	c.327C>T	c.(325-327)ggC>ggT	p.G109G	TECTA_ENST00000264037.2_Silent_p.G109G			O75443	TECTA_HUMAN	tectorin alpha	109	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAATTCGAGGCGAGATCTATT	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(325-327)ggC>ggT		tectorin alpha							104.0	98.0	100.0					11																	120980048		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980048C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.327C>T	11.37:g.120980048C>T						TECTA_ENST00000264037.2_Silent_p.G109G	p.G109G			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	598	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	109			NIDO.			Silent	SNP	ENST00000392793.1	37	c.327C>T	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		16	30	0	0	0	1	0	16	30				
APLP1	333	broad.mit.edu	37	19	36365764	36365764	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36365764G>A	ENST00000221891.4	+	10	1529	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	APLP1_ENST00000586861.1_Missense_Mutation_p.R440H|APLP1_ENST00000537454.2_Missense_Mutation_p.R407H|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	446	Collagen-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCAGATGCGCTTCCAGGTG	0.622																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1336-1338)cGc>cAc		amyloid beta (A4) precursor-like protein 1							55.0	50.0	52.0					19																	36365764		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365764G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1337G>A	19.37:g.36365764G>A	ENSP00000221891:p.Arg446His					APLP1_ENST00000537454.2_Missense_Mutation_p.R407H|APLP1_ENST00000586861.1_Missense_Mutation_p.R440H|APLP1_ENST00000589298.2_3'UTR	p.R446H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1529	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		446			Collagen-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1337G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830312	0.71258	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.55052	0.54;0.54	4.72	3.68	0.42216	Amyloidogenic glycoprotein, E2 domain (2);	0.279536	0.25978	N	0.027089	T	0.61652	0.2364	L	0.49350	1.555	0.38636	D	0.951508	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.72625	0.971;0.978;0.922;0.953	T	0.63462	-0.6632	10	0.54805	T	0.06	-5.928	7.3562	0.26721	0.2007:0.0:0.7993:0.0	.	440;407;446;446	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	407;446	ENSP00000441501:R407H;ENSP00000221891:R446H	ENSP00000221891:R446H	R	+	2	0	APLP1	41057604	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	4.280000	0.58959	0.977000	0.38444	0.555000	0.69702	CGC		0.622	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		4	15	0	0	0	1	0	4	15				
TANC1	85461	broad.mit.edu	37	2	160035216	160035216	+	Silent	SNP	C	C	T	rs201508550		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160035216C>T	ENST00000263635.6	+	14	2289	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	TANC1_ENST00000454300.1_Silent_p.A578A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	684					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGCAAGGCCGATGCCACAC	0.587																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2050-2052)gcC>gcT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							53.0	57.0	55.0					2																	160035216		2159	4238	6397	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035216C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2052C>T	2.37:g.160035216C>T						TANC1_ENST00000454300.1_Silent_p.A578A	p.A684A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2289	+			684					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2052C>T	CCDS42766.1																																																																																				0.587	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			7	31	0	0	0	1	0	7	31				
CSRP3	8048	broad.mit.edu	37	11	19213898	19213898	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:19213898G>A	ENST00000533783.1	-	3	338	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CSRP3_ENST00000265968.3_Missense_Mutation_p.T33M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTGGAAACACGTCTTGTGGAA	0.512																																						ENST00000533783.1																			0				kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(97-99)aCg>aTg		cysteine and glycine-rich protein 3 (cardiac LIM protein)							138.0	107.0	117.0					11																	19213898		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19213898G>A	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.98C>T	11.37:g.19213898G>A	ENSP00000431813:p.Thr33Met					CSRP3_ENST00000265968.3_Missense_Mutation_p.T33M	p.T33M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN			3	338	-			33			LIM zinc-binding 1.		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.98C>T	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364387	0.41902	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.91407	-2.84;-2.84	6.16	5.23	0.72850	Zinc finger, LIM-type (5);	0.086971	0.85682	D	0.000000	D	0.86997	0.6068	L	0.43152	1.355	0.80722	D	1	B	0.20164	0.042	B	0.17098	0.017	T	0.82462	-0.0445	10	0.19590	T	0.45	-8.1369	17.0252	0.86443	0.0:0.1274:0.8726:0.0	.	33	P50461	CSRP3_HUMAN	M	33	ENSP00000265968:T33M;ENSP00000431813:T33M	ENSP00000265968:T33M	T	-	2	0	CSRP3	19170474	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.852000	0.86927	1.561000	0.49584	0.650000	0.86243	ACG		0.512	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		16	38	0	0	0	1	0	16	38				
RAB15	376267	broad.mit.edu	37	14	65417801	65417801	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65417801G>A	ENST00000533601.2	-	4	652	c.315C>T	c.(313-315)gaC>gaT	p.D105D	RAB15_ENST00000426039.3_Silent_p.D59D|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.D59D|RAB15_ENST00000267512.5_Silent_p.D105D			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	105					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCATCCACGTCACTGACCC	0.537																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(313-315)gaC>gaT		RAB15, member RAS oncogene family							70.0	66.0	68.0					14																	65417801		2203	4300	6503	SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417801G>A	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.315C>T	14.37:g.65417801G>A						RAB15_ENST00000436278.2_Silent_p.D59D|CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Silent_p.D59D|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Silent_p.D105D	p.D105D			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	652	-			105					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.315C>T																																																																																					0.537	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		31	39	0	0	0	1	0	31	39				
P2RY2	5029	broad.mit.edu	37	11	72945789	72945789	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945789C>T	ENST00000311131.2	+	3	1052	c.585C>T	c.(583-585)ttC>ttT	p.F195F	P2RY2_ENST00000393596.2_Silent_p.F195F|P2RY2_ENST00000393597.2_Silent_p.F195F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	195					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TCAGCCGCTTCGTGGCCTACA	0.652																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(583-585)ttC>ttT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						45.0	42.0	43.0					11																	72945789		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945789C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.585C>T	11.37:g.72945789C>T						P2RY2_ENST00000393597.2_Silent_p.F195F|P2RY2_ENST00000393596.2_Silent_p.F195F	p.F195F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1052	+			195					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.585C>T	CCDS8219.1																																																																																				0.652	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		11	15	0	0	0	1	0	11	15				
CACNA1E	777	broad.mit.edu	37	1	181684513	181684513	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:181684513C>T	ENST00000367573.2	+	9	1211	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T11I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T404I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T355I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T355I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	404					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATGCTGGAACATCCGCCTTA	0.378																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1210-1212)aCa>aTa		calcium channel, voltage-dependent, R type, alpha 1E subunit							56.0	54.0	55.0					1																	181684513		1850	4114	5964	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181684513C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1211C>T	1.37:g.181684513C>T	ENSP00000356545:p.Thr404Ile					CACNA1E_ENST00000367570.1_Missense_Mutation_p.T404I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T404I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T11I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T404I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T355I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T355I	p.T404I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			9	1376	+			404					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1211C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227589	0.79576	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D;D	0.96265	-3.21;-3.21;-3.21;-3.21;-3.21;-3.96;-3.21;-3.21	5.36	5.36	0.76844	.	0.861229	0.10542	N	0.662567	D	0.94637	0.8271	N	0.17474	0.49	0.42244	D	0.991947	D;D	0.53745	0.962;0.962	P;P	0.49276	0.605;0.605	D	0.93198	0.6589	10	0.46703	T	0.11	.	19.0518	0.93050	0.0:1.0:0.0:0.0	.	404;404	Q15878-2;Q15878-3	.;.	I	404;404;404;355;355;11;404;404	ENSP00000432038:T404I;ENSP00000356542:T404I;ENSP00000434814:T404I;ENSP00000350183:T355I;ENSP00000351101:T355I;ENSP00000356539:T11I;ENSP00000353222:T404I;ENSP00000356545:T404I	ENSP00000350183:T355I	T	+	2	0	CACNA1E	179951136	0.880000	0.30214	0.253000	0.24343	0.823000	0.46562	2.290000	0.43531	2.673000	0.90976	0.650000	0.86243	ACA		0.378	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	8	0	0	0	1	0	8	8				
KIRREL2	84063	broad.mit.edu	37	19	36348250	36348250	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36348250C>T	ENST00000360202.5	+	2	263	c.65C>T	c.(64-66)cCg>cTg	p.P22L	KIRREL2_ENST00000262625.7_Missense_Mutation_p.P22L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P22L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	22					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTAGGCCCGTCGCCCCAT	0.662																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(64-66)cCg>cTg		kin of IRRE like 2 (Drosophila)							45.0	54.0	51.0					19																	36348250		2198	4285	6483	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348250C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.65C>T	19.37:g.36348250C>T	ENSP00000353331:p.Pro22Leu					NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P22L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P22L|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P22L	p.P22L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	263	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		22					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.65C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773225	0.16051	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658;ENST00000270294	T;T	0.65178	-0.14;-0.09	4.77	-5.61	0.02489	.	1.842020	0.02836	N	0.127344	T	0.29882	0.0747	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.21348	-1.0248	10	0.09338	T	0.73	0.4309	2.4855	0.04597	0.1233:0.3083:0.3671:0.2012	.	22;22;22	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	L	22	ENSP00000262625:P22L;ENSP00000353331:P22L	ENSP00000262625:P22L	P	+	2	0	KIRREL2	41040090	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.323000	0.07997	-0.423000	0.07394	0.650000	0.86243	CCG		0.662	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		34	46	0	0	0	1	0	34	46				
HECTD4	283450	broad.mit.edu	37	12	112622525	112622525	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112622525G>A	ENST00000430131.2	-	60	10124	c.8979C>T	c.(8977-8979)ggC>ggT	p.G2993G	HECTD4_ENST00000550722.1_Silent_p.G3269G|HECTD4_ENST00000377560.5_Silent_p.G3243G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2993					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCGGATGGCGCCTCTGACTA	0.652																																						ENST00000550722.1																			0											c.(9805-9807)ggC>ggT		HECT domain containing E3 ubiquitin protein ligase 4							121.0	149.0	139.0					12																	112622525		2144	4252	6396	SO:0001819	synonymous_variant	283450							g.chr12:112622525G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8979C>T	12.37:g.112622525G>A						HECTD4_ENST00000377560.5_Silent_p.G3243G|HECTD4_ENST00000430131.2_Silent_p.G2993G	p.G3269G	NM_001109662.3	NP_001103132.3					61	10202	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.9807C>T																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		50	52	0	0	0	1	0	50	52				
ZC3HAV1	56829	broad.mit.edu	37	7	138749722	138749722	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138749722G>A	ENST00000242351.5	-	8	2212	c.1896C>T	c.(1894-1896)aaC>aaT	p.N632N	ZC3HAV1_ENST00000471652.1_Silent_p.N632N|ZC3HAV1_ENST00000464606.1_Silent_p.N754N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	632	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGAGTCGACGTTTGAATTTT	0.413																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1894-1896)aaC>aaT		zinc finger CCCH-type, antiviral 1							100.0	99.0	99.0					7																	138749722		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749722G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1896C>T	7.37:g.138749722G>A						ZC3HAV1_ENST00000464606.1_Silent_p.N754N|ZC3HAV1_ENST00000471652.1_Silent_p.N632N	p.N632N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2212	-			632			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.1896C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112633	0.06881	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	-1.43	0.08884	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27226	-1.0080	4	.	.	.	.	3.2415	0.06782	0.3116:0.0:0.28:0.4084	.	.	.	.	C	197	.	.	R	-	1	0	ZC3HAV1	138400262	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.045000	0.14013	-0.080000	0.12685	0.644000	0.83932	CGT		0.413	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		28	21	0	0	0	1	0	28	21				
BRINP3	339479	broad.mit.edu	37	1	190068210	190068210	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:190068210G>A	ENST00000367462.3	-	8	1470	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	BRINP3_ENST00000534846.1_Silent_p.N311N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	413					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTAGGAGGCCGTTCTCATTGC	0.493																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1237-1239)aaC>aaT									44.0	38.0	40.0					1																	190068210		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190068210G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1239C>T	1.37:g.190068210G>A						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.N311N	p.N413N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1470	-	Prostate(682;0.198)		413					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1239C>T	CCDS1373.1																																																																																				0.493	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		6	19	0	0	0	1	0	6	19				
GCNT3	9245	broad.mit.edu	37	15	59910606	59910606	+	Missense_Mutation	SNP	T	T	C	rs533720563		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59910606T>C	ENST00000396065.1	+	3	617	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	GCNT3_ENST00000560585.1_Missense_Mutation_p.Y57H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	57					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATATCTTGTATAATTTCCT	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		19859	0.0		0.0	False		,,,				2504	0.001					ENST00000396065.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(169-171)Tat>Cat		glucosaminyl (N-acetyl) transferase 3, mucin type							111.0	120.0	117.0					15																	59910606		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910606T>C	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.169T>C	15.37:g.59910606T>C	ENSP00000379377:p.Tyr57His					GCNT3_ENST00000560585.1_Missense_Mutation_p.Y57H	p.Y57H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN			3	617	+			57						Missense_Mutation	SNP	ENST00000396065.1	37	c.169T>C	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248762	0.39797	.	.	ENSG00000140297	ENST00000396065	T	0.10005	2.92	6.16	6.16	0.99307	.	0.650295	0.14602	N	0.309555	T	0.16300	0.0392	N	0.08118	0	0.41121	D	0.985816	D	0.76494	0.999	D	0.66196	0.942	T	0.37731	-0.9693	10	0.36615	T	0.2	.	16.4675	0.84087	0.0:0.0:0.0:1.0	.	57	O95395	GCNT3_HUMAN	H	57	ENSP00000379377:Y57H	ENSP00000379377:Y57H	Y	+	1	0	GCNT3	57697898	1.000000	0.71417	0.954000	0.39281	0.044000	0.14063	4.305000	0.59110	2.367000	0.80283	0.528000	0.53228	TAT		0.473	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		12	64	0	0	0	1	0	12	64				
RET	5979	broad.mit.edu	37	10	43597841	43597841	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43597841C>T	ENST00000355710.3	+	3	621	c.389C>T	c.(388-390)aCa>aTa	p.T130I	RET_ENST00000340058.5_Missense_Mutation_p.T130I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTCACCCACATCCCTTCGT	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(388-390)aCa>aTa		ret proto-oncogene	Sunitinib(DB01268)						134.0	117.0	123.0					10																	43597841		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597841C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.389C>T	10.37:g.43597841C>T	ENSP00000347942:p.Thr130Ile					RET_ENST00000340058.5_Missense_Mutation_p.T130I	p.T130I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	621	+		Ovarian(717;0.0423)	130					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.389C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	2.645	-0.283351	0.05642	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79247	-1.13;-1.25	5.09	-1.35	0.09114	.	1.261060	0.05052	N	0.478369	T	0.65217	0.2670	L	0.43152	1.355	0.09310	N	1	B;B	0.24483	0.063;0.104	B;B	0.23018	0.019;0.043	T	0.46952	-0.9154	10	0.38643	T	0.18	.	0.4349	0.00477	0.2461:0.2939:0.1281:0.3319	.	130;130	P07949;P07949-2	RET_HUMAN;.	I	130	ENSP00000347942:T130I;ENSP00000344798:T130I	ENSP00000344798:T130I	T	+	2	0	RET	42917847	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	1.654000	0.37334	-0.113000	0.11958	-0.793000	0.03317	ACA		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		25	32	0	0	0	1	0	25	32				
HMG20A	10363	broad.mit.edu	37	15	77770726	77770726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77770726C>T	ENST00000381714.3	+	9	1209	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	HMG20A_ENST00000336216.4_Missense_Mutation_p.R261C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	261					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R261C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGAGAGCATGCGCACAGCAGT	0.587																																						ENST00000381714.3																			1	Substitution - Missense(1)	p.R261C(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(781-783)Cgc>Tgc		high mobility group 20A							79.0	70.0	73.0					15																	77770726		2196	4294	6490	SO:0001583	missense	10363				chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:77770726C>T	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.781C>T	15.37:g.77770726C>T	ENSP00000371133:p.Arg261Cys					HMG20A_ENST00000336216.4_Missense_Mutation_p.R261C	p.R261C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN			9	1209	+			261					A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	c.781C>T	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329918	0.95733	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.68903	-0.36;-0.36	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.60286	0.872	T	0.76971	-0.2761	10	0.49607	T	0.09	-9.7526	20.1931	0.98233	0.0:1.0:0.0:0.0	.	261	Q9NP66	HM20A_HUMAN	C	261	ENSP00000336856:R261C;ENSP00000371133:R261C	ENSP00000336856:R261C	R	+	1	0	HMG20A	75557781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.771000	0.95319	0.563000	0.77884	CGC		0.587	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200		8	20	0	0	0	1	0	8	20				
METTL9	51108	broad.mit.edu	37	16	21666715	21666715	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21666715G>A	ENST00000358154.3	+	5	1177	c.919G>A	c.(919-921)Gtt>Att	p.V307I	METTL9_ENST00000396014.4_Missense_Mutation_p.V306I|IGSF6_ENST00000268389.4_5'Flank	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	307										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TGACTACTACGTTCTGGATGA	0.473																																						ENST00000358154.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(919-921)Gtt>Att		methyltransferase like 9							105.0	84.0	91.0					16																	21666715		2199	4300	6499	SO:0001583	missense	51108							g.chr16:21666715G>A	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.919G>A	16.37:g.21666715G>A	ENSP00000350874:p.Val307Ile					METTL9_ENST00000396014.4_Missense_Mutation_p.V306I	p.V307I	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	5	1177	+			307					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	c.919G>A	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341776	0.61073	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	L	0.48642	1.525	0.58432	D	0.999999	D;P	0.71674	0.998;0.854	D;B	0.73708	0.981;0.141	T	0.67738	-0.5593	9	0.30078	T	0.28	-16.3648	18.1573	0.89696	0.0:0.0:1.0:0.0	.	306;307	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	I	307;306;271	.	ENSP00000350874:V307I	V	+	1	0	METTL9	21574216	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.544000	0.82117	2.894000	0.99253	0.655000	0.94253	GTT		0.473	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		29	44	0	0	0	1	0	29	44				
NUP88	4927	broad.mit.edu	37	17	5322726	5322726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5322726C>T	ENST00000573584.1	-	1	754	c.245G>A	c.(244-246)cGc>cAc	p.R82H	RPAIN_ENST00000536255.2_5'Flank|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000381208.5_5'Flank|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000381209.3_5'Flank|RPAIN_ENST00000327154.6_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	82					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCCCGAAGGCGAACGACTAA	0.642																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(244-246)cGc>cAc		nucleoporin 88kDa							40.0	44.0	43.0					17																	5322726		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5322726C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.245G>A	17.37:g.5322726C>T	ENSP00000458954:p.Arg82His						p.R82H	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			1	754	-			82					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.245G>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779147	0.90195	.	.	ENSG00000108559	ENST00000225696	.	.	.	5.19	5.19	0.71726	.	0.255145	0.44688	D	0.000434	T	0.60728	0.2291	L	0.44542	1.39	0.35183	D	0.772694	D;D	0.71674	0.995;0.998	P;P	0.62649	0.699;0.905	T	0.67929	-0.5543	9	0.51188	T	0.08	-34.6215	12.0709	0.53616	0.0:0.9172:0.0:0.0828	.	82;82	B7Z5I6;Q99567	.;NUP88_HUMAN	H	82	.	ENSP00000225696:R82H	R	-	2	0	NUP88	5263450	0.999000	0.42202	0.994000	0.49952	0.972000	0.66771	2.539000	0.45718	2.865000	0.98341	0.655000	0.94253	CGC		0.642	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		9	33	0	0	0	1	0	9	33				
GTPBP6	8225	broad.mit.edu	37	X	224096	224096	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:224096G>A	ENST00000326153.4	-	5	670	c.671C>T	c.(670-672)gCg>gTg	p.A224V				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	453							GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAAAACCGCCGCATCGAGCTC	0.672																																						ENST00000326153.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(670-672)gCg>gTg		GTP binding protein 6 (putative)							37.0	44.0	42.0					X																	224096		1962	4129	6091	SO:0001583	missense	8225					intracellular	GTP binding	g.chrX:224096G>A	Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.671C>T	X.37:g.224096G>A	ENSP00000316598:p.Ala224Val						p.A224V			O43824	GTPB6_HUMAN			5	670	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	453					Q53F77|Q5HYX8	Missense_Mutation	SNP	ENST00000326153.4	37	c.671C>T		.	.	.	.	.	.	.	.	.	.	.	6.900	0.535565	0.13188	.	.	ENSG00000178605	ENST00000326153	.	.	.	2.55	-5.11	0.02901	.	0.923976	0.09078	U	0.851730	T	0.12860	0.0312	.	.	.	0.29242	N	0.872575	P	0.37352	0.591	B	0.12837	0.008	T	0.05649	-1.0872	7	0.56958	D	0.05	-8.2612	3.2831	0.06922	0.1038:0.108:0.2945:0.4937	.	453	O43824	GTPB6_HUMAN	V	224	.	ENSP00000316598:A224V	A	-	2	0	GTPBP6	164096	0.002000	0.14202	0.000000	0.03702	0.124000	0.20399	-0.596000	0.05720	-1.635000	0.01535	0.164000	0.16699	GCG		0.672	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_012227		19	7	0	0	0	1	0	19	7				
C1orf177	163747	broad.mit.edu	37	1	55277779	55277779	+	Nonsense_Mutation	SNP	C	C	T	rs373289406		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55277779C>T	ENST00000371273.3	+	6	694	c.679C>T	c.(679-681)Cga>Tga	p.R227*	C1orf177_ENST00000358193.3_Nonsense_Mutation_p.R227*	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	227										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATATGTGGCACGATCCGTCGG	0.587																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(679-681)Cga>Tga		chromosome 1 open reading frame 177		C	stop/ARG,stop/ARG	0,4406		0,0,2203	100.0	100.0	100.0		679,679	0.4	0.0	1		100	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained	C1orf177	NM_001110533.1,NM_152607.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	227/419,227/415	55277779	2,13004	2203	4300	6503	SO:0001587	stop_gained	163747							g.chr1:55277779C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.679C>T	1.37:g.55277779C>T	ENSP00000360320:p.Arg227*					C1orf177_ENST00000371273.3_Nonsense_Mutation_p.R227*	p.R227*	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			6	733	+			227					B7WPL2|Q8N7Y9	Nonsense_Mutation	SNP	ENST00000371273.3	37	c.679C>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827446	0.50845	0.0	2.33E-4	ENSG00000162398	ENST00000358193;ENST00000371273	.	.	.	5.06	0.369	0.16151	.	1.678450	0.03286	N	0.186974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1513	6.6555	0.22984	0.5594:0.3513:0.0:0.0893	.	.	.	.	X	227	.	ENSP00000350924:R227X	R	+	1	2	C1orf177	55050367	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.207000	0.17395	-0.236000	0.09753	0.462000	0.41574	CGA		0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		11	36	0	0	0	1	0	11	36				
DENND1B	163486	broad.mit.edu	37	1	197611872	197611872	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197611872C>T	ENST00000367396.3	-	10	810	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DENND1B_ENST00000235453.4_Missense_Mutation_p.R184H|DENND1B_ENST00000400967.2_Missense_Mutation_p.R184H	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	214	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATCACGATGCGCCTTTCATG	0.378																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(550-552)cGc>cAc		DENN/MADD domain containing 1B							87.0	80.0	82.0					1																	197611872		1964	4210	6174	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197611872C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.641G>A	1.37:g.197611872C>T	ENSP00000356366:p.Arg214His					DENND1B_ENST00000400967.2_Missense_Mutation_p.R184H|DENND1B_ENST00000367396.3_Missense_Mutation_p.R214H	p.R184H			Q6P3S1	DEN1B_HUMAN			10	828	-			214			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.551G>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817812	0.71028	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T	0.19105	2.17;2.17;2.17	4.46	4.46	0.54185	DENN (3);	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.979;0.975;0.966	T	0.73956	-0.3819	10	0.87932	D	0	-13.2398	17.4732	0.87652	0.0:1.0:0.0:0.0	.	214;194;214;184	Q6P3S1-5;Q6P3S1-3;Q6P3S1;Q6P3S1-4	.;.;DEN1B_HUMAN;.	H	214;194;184;214;184	ENSP00000235453:R184H;ENSP00000356366:R214H;ENSP00000383751:R184H	ENSP00000235453:R184H	R	-	2	0	DENND1B	195878495	1.000000	0.71417	0.991000	0.47740	0.331000	0.28603	7.445000	0.80570	2.188000	0.69820	0.650000	0.86243	CGC		0.378	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		22	35	0	0	0	1	0	22	35				
DTX1	1840	broad.mit.edu	37	12	113496256	113496256	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113496256G>T	ENST00000257600.3	+	1	762	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	87	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCAGGACACAGGTGAGCAGAC	0.612																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.e1+1		deltex homolog 1 (Drosophila)							89.0	84.0	86.0					12																	113496256		2203	4300	6503	SO:0001630	splice_region_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496256G>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.259+1G>T	12.37:g.113496256G>T							p.G87_splice	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	762	+			87			WWE 1.		O60630|Q9BS04	Splice_Site	SNP	ENST00000257600.3	37	c.259_splice	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687422	0.88639	.	.	ENSG00000135144	ENST00000257600	T	0.52983	0.64	3.98	3.98	0.46160	WWE domain (2);WWE domain, subgroup (1);	0.077563	0.51477	U	0.000087	T	0.71904	0.3395	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79001	-0.1981	10	0.87932	D	0	4.0352	15.0523	0.71885	0.0:0.0:1.0:0.0	.	87	Q86Y01	DTX1_HUMAN	C	87	ENSP00000257600:G87C	ENSP00000257600:G87C	G	+	1	0	DTX1	111980639	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.899000	0.92544	2.067000	0.61834	0.555000	0.69702	GGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		Missense_Mutation	17	43	1	0	8.28177e-16	1	9.07663e-16	17	43				
EDC4	23644	broad.mit.edu	37	16	67914539	67914539	+	Missense_Mutation	SNP	G	G	A	rs151306360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67914539G>A	ENST00000358933.5	+	18	2416	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	726					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCCCCTAGCCGCACTCGTTCC	0.622																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2176-2178)cGc>cAc		enhancer of mRNA decapping 4		G	HIS/ARG	0,4396		0,0,2198	168.0	166.0	167.0		2177	5.5	1.0	16	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	726/1402	67914539	1,12995	2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914539G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2177G>A	16.37:g.67914539G>A	ENSP00000351811:p.Arg726His						p.R726H	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2416	+		Ovarian(137;0.0563)	726					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2177G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307039	0.95629	0.0	1.16E-4	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67608	-0.5627	9	0.44086	T	0.13	-17.8941	18.9123	0.92490	0.0:0.0:1.0:0.0	.	726	Q6P2E9	EDC4_HUMAN	H	726	.	ENSP00000351811:R726H	R	+	2	0	EDC4	66472040	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.359000	0.97115	2.560000	0.86352	0.591000	0.81541	CGC		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		62	107	0	0	0	1	0	62	107				
EPHB6	2051	broad.mit.edu	37	7	142568000	142568000	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142568000C>T	ENST00000392957.2	+	18	3428	c.2641C>T	c.(2641-2643)Ccc>Tcc	p.P881S	EPHB6_ENST00000411471.2_Missense_Mutation_p.P604S|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	881	Poly-Pro.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTTCCGGCTGCCCCCGCCTCC	0.537																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2641-2643)Ccc>Tcc		EPH receptor B6							148.0	177.0	167.0					7																	142568000		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568000C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2641C>T	7.37:g.142568000C>T	ENSP00000376684:p.Pro881Ser					EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881S|EPHB6_ENST00000411471.2_Missense_Mutation_p.P604S	p.P881S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			18	3428	+	Melanoma(164;0.059)		881			Poly-Pro.|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2641C>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991288	0.93106	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.82711	-1.64;-1.64;-1.64	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000213	D	0.90872	0.7132	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91475	0.5200	10	0.87932	D	0	.	18.554	0.91077	0.0:1.0:0.0:0.0	.	881;604	O15197;O15197-2	EPHB6_HUMAN;.	S	881;881;604	ENSP00000376684:P881S;ENSP00000410789:P881S;ENSP00000409061:P604S	ENSP00000376684:P881S	P	+	1	0	EPHB6	142278122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.606000	0.88127	0.655000	0.94253	CCC		0.537	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			65	103	0	0	0	1	0	65	103				
PTPRK	5796	broad.mit.edu	37	6	128304058	128304058	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128304058A>G	ENST00000368215.3	-	24	3451	c.3452T>C	c.(3451-3453)gTc>gCc	p.V1151A	PTPRK_ENST00000368227.3_Missense_Mutation_p.V1169A|PTPRK_ENST00000368210.3_Missense_Mutation_p.V1170A|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1184A|PTPRK_ENST00000532331.1_Missense_Mutation_p.V1174A|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1158A|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1152A			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1151					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAATTCACAGACAGGTATGGC	0.323																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3505-3507)gTc>gCc		protein tyrosine phosphatase, receptor type, K							95.0	101.0	99.0					6																	128304058		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304058A>G	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3452T>C	6.37:g.128304058A>G	ENSP00000357198:p.Val1151Ala					PTPRK_ENST00000532331.1_Missense_Mutation_p.V1174A|PTPRK_ENST00000368207.3_Missense_Mutation_p.V1184A|PTPRK_ENST00000368226.4_Missense_Mutation_p.V1152A|PTPRK_ENST00000368215.3_Missense_Mutation_p.V1151A|PTPRK_ENST00000368213.5_Missense_Mutation_p.V1158A|PTPRK_ENST00000368210.3_Missense_Mutation_p.V1170A	p.V1169A			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	25	3872	-			1151					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3506T>C		.	.	.	.	.	.	.	.	.	.	A	5.214	0.225082	0.09916	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.78	4.63	0.57726	.	0.120851	0.56097	N	0.000033	T	0.05914	0.0154	N	0.13098	0.295	0.80722	D	1	B;B;B;B	0.15473	0.008;0.013;0.002;0.003	B;B;B;B	0.24269	0.023;0.052;0.008;0.018	T	0.19031	-1.0318	10	0.02654	T	1	.	11.6729	0.51413	0.9307:0.0:0.0693:0.0	.	1174;1158;1151;1152	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	A	1152;1169;1174;1158;1170;1151;1184	ENSP00000357209:V1152A;ENSP00000357210:V1169A;ENSP00000432973:V1174A;ENSP00000357196:V1158A;ENSP00000357193:V1170A;ENSP00000357198:V1151A;ENSP00000357190:V1184A	ENSP00000357190:V1184A	V	-	2	0	PTPRK	128345751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.713000	0.61895	1.025000	0.39708	0.477000	0.44152	GTC		0.323	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			25	50	0	0	0	1	0	25	50				
SLC45A1	50651	broad.mit.edu	37	1	8386059	8386059	+	Silent	SNP	C	C	T	rs370969906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8386059C>T	ENST00000471889.1	+	4	1057	c.672C>T	c.(670-672)ccC>ccT	p.P224P	SLC45A1_ENST00000289877.8_Silent_p.P224P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.P258P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	224					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCAGCCCCGCAGACCAGG	0.662																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(670-672)ccC>ccT		solute carrier family 45, member 1		C		1,4405	2.1+/-5.4	0,1,2202	73.0	68.0	70.0		672	-10.4	0.0	1		70	0,8600		0,0,4300	no	coding-synonymous	SLC45A1	NM_001080397.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		224/749	8386059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386059C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.672C>T	1.37:g.8386059C>T						SLC45A1_ENST00000289877.8_Silent_p.P224P|SLC45A1_ENST00000377479.2_Silent_p.P258P	p.P224P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1057	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	224					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.672C>T	CCDS30577.1																																																																																				0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			13	34	0	0	0	1	0	13	34				
HRNR	388697	broad.mit.edu	37	1	152192932	152192932	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152192932G>T	ENST00000368801.2	-	3	1248	c.1173C>A	c.(1171-1173)ggC>ggA	p.G391G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	391					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAGCTGGAGCCATGTTGGC	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1171-1173)ggC>ggA		hornerin							168.0	144.0	152.0					1																	152192932		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192932G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1173C>A	1.37:g.152192932G>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G391G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1248	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		391					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1173C>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		26	56	1	0	3.01185e-09	1	3.19065e-09	26	56				
DNAH2	146754	broad.mit.edu	37	17	7695266	7695266	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7695266C>T	ENST00000572933.1	+	45	8392	c.6932C>T	c.(6931-6933)aCc>aTc	p.T2311I	DNAH2_ENST00000389173.2_Missense_Mutation_p.T2311I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2311					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACTATGTCACCATGGTAGAG	0.537																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6931-6933)aCc>aTc		dynein, axonemal, heavy chain 2							206.0	186.0	193.0					17																	7695266		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695266C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6932C>T	17.37:g.7695266C>T	ENSP00000458355:p.Thr2311Ile					DNAH2_ENST00000389173.2_Missense_Mutation_p.T2311I	p.T2311I			Q9P225	DYH2_HUMAN			45	8392	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2311					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6932C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.810	0.935062	0.18206	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24151	1.87	4.84	1.68	0.24146	.	1.843660	0.02772	N	0.119787	T	0.16811	0.0404	N	0.13098	0.295	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.20405	-1.0276	10	0.39692	T	0.17	.	5.7814	0.18308	0.0:0.5253:0.301:0.1737	.	2311	Q9P225	DYH2_HUMAN	I	2311	ENSP00000373825:T2311I	ENSP00000353818:T2311I	T	+	2	0	DNAH2	7635991	0.000000	0.05858	0.009000	0.14445	0.064000	0.16182	-0.069000	0.11542	0.217000	0.20800	-0.311000	0.09066	ACC		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		44	83	0	0	0	1	0	44	83				
CES5A	221223	broad.mit.edu	37	16	55903572	55903572	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55903572C>T	ENST00000290567.9	-	4	623	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	CES5A_ENST00000518005.1_Missense_Mutation_p.V62M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.V168M|CES5A_ENST00000520435.1_Missense_Mutation_p.V138M|CES5A_ENST00000521992.1_Missense_Mutation_p.V197M	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	168						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAACCAGCACGTCCTCATAG	0.562																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(589-591)Gtg>Atg		carboxylesterase 5A							75.0	56.0	62.0					16																	55903572		2198	4300	6498	SO:0001583	missense	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903572C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.502G>A	16.37:g.55903572C>T	ENSP00000290567:p.Val168Met					CES5A_ENST00000290567.9_Missense_Mutation_p.V168M|CES5A_ENST00000520435.1_Missense_Mutation_p.V138M|CES5A_ENST00000518005.1_Missense_Mutation_p.V62M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.V168M	p.V197M	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			5	734	-			168					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	c.589G>A	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066097	0.36470	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.51	2.55	0.30701	Carboxylesterase, type B (1);	0.200713	0.31976	N	0.006774	D	0.87815	0.6272	M	0.89163	3.01	0.42923	D	0.994297	D;D	0.89917	0.992;1.0	P;D	0.83275	0.617;0.996	D	0.87519	0.2445	10	0.72032	D	0.01	.	9.3924	0.38381	0.0:0.8185:0.0:0.1815	.	168;168	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	M	197;168;62;168;138;62	ENSP00000428864:V197M;ENSP00000324271:V168M;ENSP00000428571:V62M;ENSP00000290567:V168M;ENSP00000428887:V138M;ENSP00000439810:V62M	ENSP00000290567:V168M	V	-	1	0	CES5A	54461073	0.231000	0.23751	0.865000	0.33974	0.026000	0.11368	0.801000	0.27055	0.610000	0.30035	-0.226000	0.12346	GTG		0.562	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		7	40	0	0	0	1	0	7	40				
FBXO43	286151	broad.mit.edu	37	8	101146206	101146206	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101146206G>A	ENST00000428847.2	-	5	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	651					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCTTATATGGCTGGTACTTA	0.443																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1951-1953)Cca>Tca		F-box protein 43							103.0	101.0	102.0					8																	101146206		1873	4103	5976	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146206G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1951C>T	8.37:g.101146206G>A	ENSP00000403293:p.Pro651Ser						p.P651S	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2267	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		651						Missense_Mutation	SNP	ENST00000428847.2	37	c.1951C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927343	0.34002	.	.	ENSG00000156509	ENST00000428847	T	0.62105	0.05	5.42	5.42	0.78866	Zinc finger, C6HC-type (2);	0.303409	0.32655	N	0.005819	T	0.42675	0.1213	N	0.16743	0.435	0.35178	D	0.772191	P	0.47034	0.889	B	0.43658	0.426	T	0.48714	-0.9011	10	0.16420	T	0.52	-14.6744	6.5562	0.22462	0.1155:0.181:0.7035:0.0	.	651	Q4G163	FBX43_HUMAN	S	651	ENSP00000403293:P651S	ENSP00000403293:P651S	P	-	1	0	FBXO43	101215382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.673000	0.46858	2.711000	0.92665	0.655000	0.94253	CCA		0.443	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		33	53	0	0	0	1	0	33	53				
PLA2G4B	100137049	broad.mit.edu	37	15	42138157	42138157	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42138157G>A	ENST00000452633.1	+	17	1864	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PLA2G4B_ENST00000458483.1_Silent_p.L504L|PLA2G4B_ENST00000542534.2_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L735L			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	504	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGAGCAACCTGTATGCAGCCA	0.612																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(2203-2205)ctG>ctA									48.0	50.0	50.0					15																	42138157		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42138157G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1512G>A	15.37:g.42138157G>A						PLA2G4B_ENST00000452633.1_Silent_p.L504L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L735L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L504L	p.L735L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			21	2214	+			504			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	37	c.2205G>A	CCDS45241.1																																																																																				0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		26	32	0	0	0	1	0	26	32				
CSMD2	114784	broad.mit.edu	37	1	34037247	34037247	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34037247G>A	ENST00000373381.4	-	51	8018	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2616	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGGGCCTGGAACTGATACT	0.527																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7840-7842)ttC>ttT		CUB and Sushi multiple domains 2							111.0	100.0	103.0					1																	34037247		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037247G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7842C>T	1.37:g.34037247G>A							p.F2614F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			51	8018	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2616			Sushi 16.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7842C>T																																																																																					0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		29	35	0	0	0	1	0	29	35				
NEK1	4750	broad.mit.edu	37	4	170321765	170321765	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:170321765G>A	ENST00000439128.2	-	32	4177	c.3537C>T	c.(3535-3537)tgC>tgT	p.C1179C	NEK1_ENST00000510533.1_Silent_p.C1135C|NEK1_ENST00000512193.1_Silent_p.C1110C|NEK1_ENST00000507142.1_Silent_p.C1207C|NEK1_ENST00000511633.1_Silent_p.C1163C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1179					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C1207C(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGACACTATCGCATTCACATT	0.318																																						ENST00000439128.2																			4	Substitution - coding silent(4)	p.C1207C(4)	lung(2)|breast(2)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(3535-3537)tgC>tgT		NIMA-related kinase 1							54.0	48.0	50.0					4																	170321765		1823	4084	5907	SO:0001819	synonymous_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170321765G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3537C>T	4.37:g.170321765G>A						NEK1_ENST00000511633.1_Silent_p.C1163C|NEK1_ENST00000512193.1_Silent_p.C1110C|NEK1_ENST00000510533.1_Silent_p.C1135C|NEK1_ENST00000507142.1_Silent_p.C1207C	p.C1179C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	32	4177	-		Prostate(90;0.00601)|Renal(120;0.0183)	1179					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	c.3537C>T	CCDS47162.1																																																																																				0.318	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	10	0	0	0	1	0	7	10				
OR4D11	219986	broad.mit.edu	37	11	59271436	59271436	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59271436C>A	ENST00000313253.1	+	1	388	c.388C>A	c.(388-390)Ctg>Atg	p.L130M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCAAGCCCCTGCACTATGT	0.522																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(388-390)Ctg>Atg		olfactory receptor, family 4, subfamily D, member 11							184.0	167.0	173.0					11																	59271436		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271436C>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.388C>A	11.37:g.59271436C>A	ENSP00000320077:p.Leu130Met						p.L130M	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	388	+			130						Missense_Mutation	SNP	ENST00000313253.1	37	c.388C>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816181	0.32145	.	.	ENSG00000176200	ENST00000313253	T	0.01359	4.98	5.44	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000954	T	0.11836	0.0288	H	0.94542	3.55	0.35859	D	0.827381	D	0.89917	1.0	D	0.75484	0.986	T	0.07578	-1.0765	10	0.87932	D	0	-20.061	12.4181	0.55504	0.0:0.7893:0.0:0.2107	.	130	Q8NGI4	OR4DB_HUMAN	M	130	ENSP00000320077:L130M	ENSP00000320077:L130M	L	+	1	2	OR4D11	59028012	0.922000	0.31269	0.995000	0.50966	0.292000	0.27327	1.999000	0.40806	0.030000	0.15379	-1.151000	0.01829	CTG		0.522	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		41	54	1	0	1.62957e-23	1	1.81649e-23	41	54				
LRP1	4035	broad.mit.edu	37	12	57599196	57599196	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57599196C>T	ENST00000243077.3	+	74	11864	c.11398C>T	c.(11398-11400)Cgc>Tgc	p.R3800C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3800	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGCTGCGTGCGCACCGAGAA	0.677																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11398-11400)Cgc>Tgc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						38.0	39.0	39.0					12																	57599196		2200	4300	6500	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57599196C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11398C>T	12.37:g.57599196C>T	ENSP00000243077:p.Arg3800Cys						p.R3800C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	74	11864	+			3800			EGF-like 14.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11398C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207044	0.39003	.	.	ENSG00000123384	ENST00000243077	T	0.30448	1.53	5.08	5.08	0.68730	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.482768	0.20607	N	0.089060	T	0.15262	0.0368	N	0.08118	0	0.18873	N	0.999989	P	0.51653	0.947	B	0.34452	0.183	T	0.14476	-1.0471	10	0.56958	D	0.05	.	15.7509	0.77986	0.0:1.0:0.0:0.0	.	3800	Q07954	LRP1_HUMAN	C	3800	ENSP00000243077:R3800C	ENSP00000243077:R3800C	R	+	1	0	LRP1	55885463	0.593000	0.26840	1.000000	0.80357	0.626000	0.37791	1.719000	0.38011	2.537000	0.85549	0.655000	0.94253	CGC		0.677	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	11	0	0	0	1	0	5	11				
DYSF	8291	broad.mit.edu	37	2	71909728	71909728	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71909728G>A	ENST00000258104.3	+	54	6402	c.6125G>A	c.(6124-6126)cGt>cAt	p.R2042H	DYSF_ENST00000409744.1_Missense_Mutation_p.R2050H|DYSF_ENST00000409366.1_Missense_Mutation_p.R2064H|DYSF_ENST00000409651.1_Missense_Mutation_p.R2074H|DYSF_ENST00000413539.2_Missense_Mutation_p.R2073H|DYSF_ENST00000410041.1_Missense_Mutation_p.R2060H|DYSF_ENST00000409582.3_Missense_Mutation_p.R2080H|DYSF_ENST00000394120.2_Missense_Mutation_p.R2043H|DYSF_ENST00000409762.1_Missense_Mutation_p.R2059H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R2063H|DYSF_ENST00000410020.3_Missense_Mutation_p.R2081H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2042			R -> C (in MMD1, LGMD2B and proximodistal myopathy). {ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:16996541, ECO:0000269|PubMed:18853459, ECO:0000269|PubMed:9731526}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGTGGCGGCGTTTCCGGTGG	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6124-6126)cGt>cAt		dysferlin							179.0	127.0	145.0					2																	71909728		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909728G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6125G>A	2.37:g.71909728G>A	ENSP00000258104:p.Arg2042His					DYSF_ENST00000429174.2_Missense_Mutation_p.R2063H|DYSF_ENST00000410020.3_Missense_Mutation_p.R2081H|DYSF_ENST00000409762.1_Missense_Mutation_p.R2059H|DYSF_ENST00000409744.1_Missense_Mutation_p.R2050H|DYSF_ENST00000409651.1_Missense_Mutation_p.R2074H|DYSF_ENST00000409366.1_Missense_Mutation_p.R2064H|DYSF_ENST00000394120.2_Missense_Mutation_p.R2043H|DYSF_ENST00000413539.2_Missense_Mutation_p.R2073H|DYSF_ENST00000409582.3_Missense_Mutation_p.R2080H|DYSF_ENST00000410041.1_Missense_Mutation_p.R2060H|DYSF_ENST00000479049.2_3'UTR	p.R2042H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			54	6402	+			2042		R -> C (in MMD1, LGMD2B and proximodistal myopathy).			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6125G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028731	0.93518	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	M	0.70275	2.135	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.977;1.0;1.0;1.0;1.0;0.984;1.0;1.0;0.984;1.0;0.998;0.999;1.0;1.0;1.0	P;D;D;D;D;P;D;D;P;D;D;D;D;D;D	0.91635	0.498;0.999;0.999;0.999;0.999;0.736;0.993;0.996;0.761;0.999;0.975;0.966;0.999;0.999;0.999	D	0.90191	0.4250	10	0.49607	T	0.09	-16.4755	16.3717	0.83364	0.0:0.0:1.0:0.0	.	806;2074;2081;2064;2029;2060;2050;2059;2049;2073;2080;2063;2028;2043;2042	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	2073;2059;2080;2063;2042;2074;2043;2050;2064;2081;2060	ENSP00000407046:R2073H;ENSP00000387137:R2059H;ENSP00000386547:R2080H;ENSP00000398305:R2063H;ENSP00000258104:R2042H;ENSP00000386683:R2074H;ENSP00000377678:R2043H;ENSP00000386285:R2050H;ENSP00000386512:R2064H;ENSP00000386881:R2081H;ENSP00000386617:R2060H	ENSP00000258104:R2042H	R	+	2	0	DYSF	71763236	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	9.753000	0.98904	2.514000	0.84764	0.655000	0.94253	CGT		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		28	38	0	0	0	1	0	28	38				
NWD1	284434	broad.mit.edu	37	19	16918888	16918888	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16918888G>A	ENST00000552788.1	+	16	4228	c.4228G>A	c.(4228-4230)Gcc>Acc	p.A1410T	NWD1_ENST00000549814.1_Missense_Mutation_p.A1368T|NWD1_ENST00000339803.6_Missense_Mutation_p.A1275T|NWD1_ENST00000379808.3_Missense_Mutation_p.A1410T|NWD1_ENST00000523826.1_Missense_Mutation_p.A1204T|NWD1_ENST00000524140.2_Missense_Mutation_p.A1410T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1410							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCTGAGGATGCCCTGCTGTG	0.602																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4228-4230)Gcc>Acc		NACHT and WD repeat domain containing 1							88.0	87.0	87.0					19																	16918888		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16918888G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4228G>A	19.37:g.16918888G>A	ENSP00000447224:p.Ala1410Thr					NWD1_ENST00000339803.6_Missense_Mutation_p.A1275T|NWD1_ENST00000523826.1_Missense_Mutation_p.A1204T|NWD1_ENST00000552788.1_Missense_Mutation_p.A1410T|NWD1_ENST00000379808.3_Missense_Mutation_p.A1410T|NWD1_ENST00000549814.1_Missense_Mutation_p.A1368T	p.A1410T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			18	4646	+			1410					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.4228G>A		.	.	.	.	.	.	.	.	.	.	G	8.906	0.957422	0.18507	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.65549	-0.16;1.06;-0.16;0.24;0.24;0.24	4.95	1.32	0.21799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.407491	0.23811	N	0.044330	T	0.37812	0.1017	N	0.16656	0.425	0.09310	N	0.999999	B;B;B	0.18166	0.007;0.026;0.015	B;B;B	0.20767	0.007;0.015;0.031	T	0.14117	-1.0484	10	0.17832	T	0.49	-11.5937	5.8439	0.18652	0.1009:0.0:0.3941:0.505	.	1410;1410;1275	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1275;1410;1368;1410;1204;1410;1275	ENSP00000428579:A1410T;ENSP00000447548:A1368T;ENSP00000369136:A1410T;ENSP00000428955:A1204T;ENSP00000447224:A1410T;ENSP00000340159:A1275T	ENSP00000340159:A1275T	A	+	1	0	NWD1	16779888	0.007000	0.16637	0.029000	0.17559	0.147000	0.21601	0.481000	0.22260	0.462000	0.27095	0.655000	0.94253	GCC		0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		27	45	0	0	0	1	0	27	45				
CHST2	9435	broad.mit.edu	37	3	142840257	142840257	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142840257T>C	ENST00000309575.3	+	2	1983	c.599T>C	c.(598-600)gTa>gCa	p.V200A		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	200					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTGTGGCATGTATGGCAAAAA	0.582																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(598-600)gTa>gCa		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							67.0	83.0	78.0					3																	142840257		2198	4297	6495	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840257T>C	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.599T>C	3.37:g.142840257T>C	ENSP00000307911:p.Val200Ala						p.V200A	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	1983	+			200					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.599T>C	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351133	0.82132	.	.	ENSG00000175040	ENST00000309575	D	0.96885	-4.16	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.082297	0.48767	U	0.000162	D	0.96599	0.8890	M	0.73319	2.225	0.48341	D	0.999639	P	0.46327	0.876	P	0.51895	0.683	D	0.96348	0.9256	10	0.48119	T	0.1	-0.111	13.8553	0.63522	0.0:0.0:0.0:1.0	.	200	Q9Y4C5	CHST2_HUMAN	A	200	ENSP00000307911:V200A	ENSP00000307911:V200A	V	+	2	0	CHST2	144322947	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.019000	0.70818	1.859000	0.53934	0.334000	0.21626	GTA		0.582	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		16	54	0	0	0	1	0	16	54				
ZAP70	7535	broad.mit.edu	37	2	98354040	98354040	+	Missense_Mutation	SNP	G	G	A	rs137853201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98354040G>A	ENST00000264972.5	+	11	1609	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R158H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R339H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in STCD). {ECO:0000269|PubMed:11123350}.|R -> H (in STCD). {ECO:0000269|PubMed:11412303}.		adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CTGGCGGCCCGCAACGTCCTG	0.587																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1393-1395)cGc>cAc		zeta-chain (TCR) associated protein kinase 70kDa							88.0	70.0	76.0					2																	98354040		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354040G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1394G>A	2.37:g.98354040G>A	ENSP00000264972:p.Arg465His					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R339H|ZAP70_ENST00000451498.2_Missense_Mutation_p.R158H	p.R465H	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			11	1609	+			465		R -> C (in STD).|R -> H (in STD).	Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1394G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977876	0.92982	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.87729	-2.29;-2.29;-2.29	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000199	D	0.94417	0.8204	M	0.88775	2.98	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95181	0.8299	9	0.87932	D	0	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	339;465	P43403-3;P43403	.;ZAP70_HUMAN	H	465;339;158	ENSP00000264972:R465H;ENSP00000411141:R339H;ENSP00000400475:R158H	ENSP00000264972:R465H	R	+	2	0	ZAP70	97720472	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.860000	0.99555	2.610000	0.88304	0.655000	0.94253	CGC		0.587	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			10	12	0	0	0	1	0	10	12				
ADAM22	53616	broad.mit.edu	37	7	87757933	87757933	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87757933G>A	ENST00000265727.7	+	9	774	c.695G>A	c.(694-696)cGt>cAt	p.R232H	ADAM22_ENST00000315984.7_Missense_Mutation_p.R232H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R232H|ADAM22_ENST00000398204.4_Missense_Mutation_p.R232H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R232H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R232H			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	232					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGATATCCTCGTAATGTAGAA	0.393																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(694-696)cGt>cAt		ADAM metallopeptidase domain 22							219.0	200.0	206.0					7																	87757933		1894	4108	6002	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87757933G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.695G>A	7.37:g.87757933G>A	ENSP00000265727:p.Arg232His					ADAM22_ENST00000315984.7_Missense_Mutation_p.R232H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R232H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R232H|ADAM22_ENST00000265727.7_Missense_Mutation_p.R232H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R232H	p.R232H	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	1018	+	Esophageal squamous(14;0.00202)		232					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.695G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251870	0.59212	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.08370	3.96;3.1;3.99;4.0;4.06;4.04;4.01	5.1	5.1	0.69264	.	0.115906	0.64402	D	0.000012	T	0.07052	0.0179	L	0.29908	0.895	0.80722	D	1	B;P;B;B;P;B	0.43826	0.111;0.467;0.111;0.193;0.818;0.111	B;B;B;B;B;B	0.36808	0.041;0.233;0.041;0.09;0.176;0.051	T	0.19614	-1.0300	10	0.59425	D	0.04	.	12.9066	0.58156	0.0783:0.0:0.9217:0.0	.	284;232;232;232;232;232	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	H	232;232;232;232;232;232;199	ENSP00000381262:R232H;ENSP00000391334:R232H;ENSP00000381260:R232H;ENSP00000265727:R232H;ENSP00000315900:R232H;ENSP00000381267:R232H;ENSP00000381261:R199H	ENSP00000265727:R232H	R	+	2	0	ADAM22	87595869	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.973000	0.63763	2.372000	0.80975	0.655000	0.94253	CGT		0.393	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		28	51	0	0	0	1	0	28	51				
YEATS2	55689	broad.mit.edu	37	3	183508767	183508767	+	Splice_Site	SNP	C	C	T	rs199646917		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183508767C>T	ENST00000305135.5	+	21	3291	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1032					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAGTATCCGGTGAGTTGC	0.522																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.e21+1		YEATS domain containing 2		C		0,3992		0,0,1996	96.0	102.0	100.0		3096	-0.0	1.0	3		100	1,8353		0,1,4176	yes	coding-synonymous-near-splice	YEATS2	NM_018023.4		0,1,6172	TT,TC,CC		0.012,0.0,0.0081		1032/1423	183508767	1,12345	1996	4177	6173	SO:0001630	splice_region_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183508767C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3097+1C>T	3.37:g.183508767C>T							p.S1032_splice	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3291	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1032					A7E2B9|D3DNS9|Q641P6|Q9NW96	Splice_Site	SNP	ENST00000305135.5	37	c.3097_splice	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	3.538	-0.094350	0.07053	0.0	1.2E-4	ENSG00000163872	ENST00000432781	.	.	.	5.33	-0.0216	0.13951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.5804	2.5681	0.04788	0.5448:0.1324:0.0703:0.2525	.	.	.	.	X	218	.	.	R	+	1	2	YEATS2	184991461	1.000000	0.71417	0.979000	0.43373	0.182000	0.23217	0.843000	0.27640	-0.225000	0.09913	-1.302000	0.01329	CGA		0.522	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	Silent	7	56	0	0	0	1	0	7	56				
WHSC1	7468	broad.mit.edu	37	4	1976680	1976680	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1976680G>A	ENST00000382895.3	+	21	3894	c.3463G>A	c.(3463-3465)Gtg>Atg	p.V1155M	WHSC1_ENST00000382891.5_Missense_Mutation_p.V1155M|WHSC1_ENST00000508803.1_Missense_Mutation_p.V1155M|WHSC1_ENST00000382888.3_Missense_Mutation_p.V503M|WHSC1_ENST00000482415.2_3'UTR|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.V1155M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1155	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAAGTGGACAGTGAATGGGGA	0.557			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3463-3465)Gtg>Atg		Wolf-Hirschhorn syndrome candidate 1							135.0	138.0	137.0					4																	1976680		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976680G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3463G>A	4.37:g.1976680G>A	ENSP00000372351:p.Val1155Met					WHSC1_ENST00000508803.1_Missense_Mutation_p.V1155M|WHSC1_ENST00000382891.5_Missense_Mutation_p.V1155M|WHSC1_ENST00000382892.2_Missense_Mutation_p.V1155M|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.V503M	p.V1155M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3894	+		all_epithelial(65;1.34e-05)	1155			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3463G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896685	0.91962	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.77	4.77	0.60923	SET domain (3);	0.000000	0.45606	D	0.000358	D	0.96870	0.8978	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98100	1.0414	10	0.87932	D	0	.	17.9806	0.89140	0.0:0.0:1.0:0.0	.	503;1155	A2A2T2;O96028	.;NSD2_HUMAN	M	1155;1155;1155;1155;503	ENSP00000423972:V1155M;ENSP00000372347:V1155M;ENSP00000372348:V1155M;ENSP00000372351:V1155M;ENSP00000372344:V503M	ENSP00000372344:V503M	V	+	1	0	WHSC1	1946478	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	9.575000	0.98187	2.484000	0.83849	0.467000	0.42956	GTG		0.557	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		15	81	0	0	0	1	0	15	81				
ELP3	55140	broad.mit.edu	37	8	28017844	28017844	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28017844A>G	ENST00000256398.8	+	13	1733	c.1356A>G	c.(1354-1356)cgA>cgG	p.R452R	ELP3_ENST00000542181.1_Silent_p.R323R|ELP3_ENST00000521015.1_Silent_p.R438R|ELP3_ENST00000380353.4_Silent_p.R360R|ELP3_ENST00000537665.1_Silent_p.R333R|ELP3_ENST00000524103.1_Silent_p.R380R	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	452	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GCCTCCTACGATTACGCAAGT	0.458																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1354-1356)cgA>cgG		elongator acetyltransferase complex subunit 3							167.0	146.0	153.0					8																	28017844		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:28017844A>G		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1356A>G	8.37:g.28017844A>G						ELP3_ENST00000524103.1_Silent_p.R380R|ELP3_ENST00000521015.1_Silent_p.R438R|ELP3_ENST00000380353.4_Silent_p.R360R|ELP3_ENST00000537665.1_Silent_p.R333R|ELP3_ENST00000542181.1_Silent_p.R323R	p.R452R	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	13	1733	+		Ovarian(32;0.0218)	452			N-acetyltransferase.		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.1356A>G	CCDS6065.1																																																																																				0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		23	25	0	0	0	1	0	23	25				
TRPS1	7227	broad.mit.edu	37	8	116631818	116631818	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:116631818C>T	ENST00000220888.5	-	2	627	c.468G>A	c.(466-468)atG>atA	p.M156I	TRPS1_ENST00000520276.1_Missense_Mutation_p.M160I|TRPS1_ENST00000519076.1_Missense_Mutation_p.M110I|TRPS1_ENST00000519674.1_Missense_Mutation_p.M156I|TRPS1_ENST00000395715.3_Missense_Mutation_p.M169I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	156					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTTGGTGACATCTTCTGAT	0.522									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(505-507)atG>atA		trichorhinophalangeal syndrome I							103.0	101.0	102.0					8																	116631818		1962	4163	6125	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631818C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.468G>A	8.37:g.116631818C>T	ENSP00000220888:p.Met156Ile					TRPS1_ENST00000220888.5_Missense_Mutation_p.M156I|TRPS1_ENST00000519674.1_Missense_Mutation_p.M156I|TRPS1_ENST00000520276.1_Missense_Mutation_p.M160I|TRPS1_ENST00000519076.1_Missense_Mutation_p.M110I	p.M169I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1084	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		156					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.507G>A		.	.	.	.	.	.	.	.	.	.	C	13.41	2.230106	0.39399	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98550	-4.99;-4.97;-4.97;-4.97;0.83	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.95862	0.8653	N	0.24115	0.695	0.36327	D	0.858614	B;B;B	0.18166	0.026;0.015;0.026	B;B;B	0.14023	0.01;0.004;0.01	D	0.93579	0.6911	10	0.66056	D	0.02	6.4508	19.8893	0.96923	0.0:1.0:0.0:0.0	.	160;156;169	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	169;156;110;160;156	ENSP00000379065:M169I;ENSP00000220888:M156I;ENSP00000428910:M110I;ENSP00000428680:M160I;ENSP00000429174:M156I	ENSP00000220888:M156I	M	-	3	0	TRPS1	116700993	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.331000	0.52075	2.704000	0.92352	0.585000	0.79938	ATG		0.522	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		25	60	0	0	0	1	0	25	60				
DYSF	8291	broad.mit.edu	37	2	71816734	71816734	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:71816734G>T	ENST00000258104.3	+	31	3637	c.3360G>T	c.(3358-3360)atG>atT	p.M1120I	DYSF_ENST00000409744.1_Missense_Mutation_p.M1107I|DYSF_ENST00000409366.1_Missense_Mutation_p.M1121I|DYSF_ENST00000409651.1_Missense_Mutation_p.M1152I|DYSF_ENST00000413539.2_Missense_Mutation_p.M1151I|DYSF_ENST00000410041.1_Missense_Mutation_p.M1138I|DYSF_ENST00000409582.3_Missense_Mutation_p.M1137I|DYSF_ENST00000394120.2_Missense_Mutation_p.M1121I|DYSF_ENST00000409762.1_Missense_Mutation_p.M1137I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.M1120I|DYSF_ENST00000410020.3_Missense_Mutation_p.M1138I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1120					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCGGCGTGATGGATGACAAGA	0.572																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3358-3360)atG>atT		dysferlin							248.0	202.0	218.0					2																	71816734		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71816734G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3360G>T	2.37:g.71816734G>T	ENSP00000258104:p.Met1120Ile					DYSF_ENST00000429174.2_Missense_Mutation_p.M1120I|DYSF_ENST00000410020.3_Missense_Mutation_p.M1138I|DYSF_ENST00000409762.1_Missense_Mutation_p.M1137I|DYSF_ENST00000409744.1_Missense_Mutation_p.M1107I|DYSF_ENST00000409651.1_Missense_Mutation_p.M1152I|DYSF_ENST00000409366.1_Missense_Mutation_p.M1121I|DYSF_ENST00000394120.2_Missense_Mutation_p.M1121I|DYSF_ENST00000413539.2_Missense_Mutation_p.M1151I|DYSF_ENST00000409582.3_Missense_Mutation_p.M1137I|DYSF_ENST00000410041.1_Missense_Mutation_p.M1138I|DYSF_ENST00000479049.2_3'UTR	p.M1120I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			31	3637	+			1120					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3360G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	5.981	0.364975	0.11296	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.94	3.13	0.36017	.	0.303702	0.23153	N	0.051327	T	0.67562	0.2906	N	0.16656	0.425	0.19575	N	0.999964	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.0;0.0;0.002;0.003;0.002;0.0;0.0;0.003;0.0;0.0;0.0;0.0	T	0.57063	-0.7875	10	0.48119	T	0.1	-13.6355	6.6677	0.23050	0.0925:0.0:0.732:0.1754	.	1152;1138;1121;1107;1138;1107;1137;1106;1151;1137;1120;1106;1121;1120	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	1151;1137;1137;1120;1120;1152;1121;1107;1121;1138;1138	ENSP00000407046:M1151I;ENSP00000387137:M1137I;ENSP00000386547:M1137I;ENSP00000398305:M1120I;ENSP00000258104:M1120I;ENSP00000386683:M1152I;ENSP00000377678:M1121I;ENSP00000386285:M1107I;ENSP00000386512:M1121I;ENSP00000386881:M1138I;ENSP00000386617:M1138I	ENSP00000258104:M1120I	M	+	3	0	DYSF	71670242	0.967000	0.33354	0.993000	0.49108	0.084000	0.17831	-0.002000	0.12924	0.591000	0.29711	-0.268000	0.10319	ATG		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		51	52	1	0	4.25531e-23	1	4.74031e-23	51	52				
FAM65C	140876	broad.mit.edu	37	20	49225025	49225025	+	Missense_Mutation	SNP	G	G	A	rs200061776		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49225025G>A	ENST00000327979.2	-	11	1256	c.845C>T	c.(844-846)aCg>aTg	p.T282M	FAM65C_ENST00000535356.1_Missense_Mutation_p.T286M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T282M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	282										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGTCACACGTCACTGCACC	0.657																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(844-846)aCg>aTg		family with sequence similarity 65, member C		G	MET/THR	0,4406		0,0,2203	99.0	90.0	93.0		845	2.9	0.0	20		93	2,8598	2.2+/-6.3	0,2,4298	no	missense	FAM65C	NM_080829.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	282/947	49225025	2,13004	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49225025G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.845C>T	20.37:g.49225025G>A	ENSP00000332663:p.Thr282Met					FAM65C_ENST00000535356.1_Missense_Mutation_p.T286M|FAM65C_ENST00000045083.2_Missense_Mutation_p.T282M	p.T282M			Q96MK2	FA65C_HUMAN			11	1256	-			282					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.845C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514465	0.44763	0.0	2.33E-4	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02525	4.26;4.26;4.26	4.84	2.86	0.33363	.	0.050019	0.85682	D	0.000000	T	0.06917	0.0176	L	0.43152	1.355	0.27652	N	0.947351	D;D	0.76494	0.989;0.999	P;P	0.58520	0.512;0.84	T	0.03166	-1.1065	10	0.87932	D	0	-19.0199	10.6803	0.45811	0.146:0.0:0.854:0.0	.	286;282	F5H0X2;Q96MK2	.;FA65C_HUMAN	M	282;282;286	ENSP00000332663:T282M;ENSP00000045083:T282M;ENSP00000439802:T286M	ENSP00000045083:T282M	T	-	2	0	FAM65C	48658432	0.078000	0.21339	0.034000	0.17996	0.461000	0.32589	1.572000	0.36461	2.255000	0.74692	0.561000	0.74099	ACG		0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			32	38	0	0	0	1	0	32	38				
RBM25	58517	broad.mit.edu	37	14	73572703	73572703	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73572703C>T	ENST00000261973.7	+	11	1576	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	RBM25_ENST00000527432.1_Missense_Mutation_p.R431W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	431	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agaCAAAAAACGGGACCGAGA	0.458																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1291-1293)Cgg>Tgg		RNA binding motif protein 25							173.0	188.0	183.0					14																	73572703		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572703C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1291C>T	14.37:g.73572703C>T	ENSP00000261973:p.Arg431Trp					RBM25_ENST00000527432.1_Missense_Mutation_p.R431W	p.R431W	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1576	+			431			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1291C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434159	0.62955	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.62639	0.01;0.01	5.61	1.91	0.25777	.	0.112091	0.64402	D	0.000013	T	0.75788	0.3897	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.78578	-0.2150	10	0.72032	D	0.01	.	14.5484	0.68050	0.7698:0.2302:0.0:0.0	.	431	P49756	RBM25_HUMAN	W	431	ENSP00000261973:R431W;ENSP00000431150:R431W	ENSP00000261973:R431W	R	+	1	2	RBM25	72642456	1.000000	0.71417	0.916000	0.36221	0.987000	0.75469	2.190000	0.42630	0.449000	0.26747	0.650000	0.86243	CGG		0.458	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		20	23	0	0	0	1	0	20	23				
CCDC93	54520	broad.mit.edu	37	2	118701610	118701610	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:118701610C>T	ENST00000376300.2	-	18	1540	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	CCDC93_ENST00000319432.5_Missense_Mutation_p.R467H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	468										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGTAGTAAACGTATCTTGTA	0.323																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1402-1404)cGt>cAt		coiled-coil domain containing 93							197.0	188.0	191.0					2																	118701610		2203	4299	6502	SO:0001583	missense	54520							g.chr2:118701610C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1403G>A	2.37:g.118701610C>T	ENSP00000365477:p.Arg468His					CCDC93_ENST00000319432.5_Missense_Mutation_p.R467H	p.R468H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			18	1540	-			468					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1403G>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813440	0.90790	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.21734	2.01;1.99	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.84326	2.69	0.58432	D	0.999995	D	0.89917	1.0	D	0.76575	0.988	T	0.51028	-0.8757	10	0.54805	T	0.06	-8.4654	16.0896	0.81084	0.0:1.0:0.0:0.0	.	468	Q567U6	CCD93_HUMAN	H	468;467	ENSP00000365477:R468H;ENSP00000324135:R467H	ENSP00000324135:R467H	R	-	2	0	CCDC93	118418080	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	5.233000	0.65337	2.791000	0.96007	0.561000	0.74099	CGT		0.323	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		17	32	0	0	0	1	0	17	32				
ATP2B3	492	broad.mit.edu	37	X	152807867	152807867	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152807867G>A	ENST00000349466.2	+	5	1077	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	ATP2B3_ENST00000359149.3_Missense_Mutation_p.V251M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V251M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V251M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V251M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	251					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTGACCACGTGCGCAAGTC	0.662																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(751-753)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 3							92.0	64.0	73.0					X																	152807867		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807867G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.751G>A	X.37:g.152807867G>A	ENSP00000343886:p.Val251Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V251M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V251M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V251M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V251M	p.V251M			Q16720	AT2B3_HUMAN			5	1077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.751G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063686	0.93898	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.45	5.45	0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.066613	0.64402	D	0.000015	D	0.96781	0.8949	M	0.86097	2.795	0.54753	D	0.999983	D;D	0.76494	0.993;0.999	P;D	0.67725	0.89;0.953	D	0.97306	0.9934	10	0.66056	D	0.02	-9.7797	16.9818	0.86329	0.0:0.0:1.0:0.0	.	251;251	Q16720;Q16720-2	AT2B3_HUMAN;.	M	251	ENSP00000359205:V251M;ENSP00000343886:V251M;ENSP00000377425:V251M;ENSP00000352062:V251M;ENSP00000263519:V251M;ENSP00000359200:V251M	ENSP00000263519:V251M	V	+	1	0	ATP2B3	152461061	1.000000	0.71417	0.997000	0.53966	0.573000	0.36030	9.813000	0.99286	2.273000	0.75805	0.513000	0.50165	GTG		0.662	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		7	2	0	0	0	1	0	7	2				
NARF	26502	broad.mit.edu	37	17	80417933	80417933	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80417933C>T	ENST00000309794.11	+	2	291	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NARF_ENST00000457415.3_Silent_p.A31A|RP13-20L14.6_ENST00000579095.1_RNA|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Silent_p.A31A|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	31						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGTCCAGCCCAGGAAAATG	0.423																																						ENST00000309794.10																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(91-93)gcC>gcT		nuclear prelamin A recognition factor							106.0	107.0	107.0					17																	80417933		2203	4300	6503	SO:0001819	synonymous_variant	26502					lamin filament	lamin binding	g.chr17:80417933C>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.93C>T	17.37:g.80417933C>T						NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000457415.3_Silent_p.A31A|NARF_ENST00000345415.7_Silent_p.A31A	p.A31A	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	291	+	Breast(20;0.00106)|all_neural(118;0.0804)		31					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	c.93C>T	CCDS32777.1																																																																																				0.423	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		20	21	0	0	0	1	0	20	21				
EXOG	9941	broad.mit.edu	37	3	38545115	38545115	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38545115G>A	ENST00000287675.5	+	4	559	c.463G>A	c.(463-465)Gct>Act	p.A155T	Y_RNA_ENST00000384781.1_RNA|EXOG_ENST00000422077.2_Missense_Mutation_p.A105T|EXOG_ENST00000358249.2_Missense_Mutation_p.A15T	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	155					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GAAAGCCATGGCTGAAACCTT	0.318																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(463-465)Gct>Act		endo/exonuclease (5'-3'), endonuclease G-like							95.0	97.0	97.0					3																	38545115		2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38545115G>A	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.463G>A	3.37:g.38545115G>A	ENSP00000287675:p.Ala155Thr					EXOG_ENST00000422077.2_Missense_Mutation_p.A105T|EXOG_ENST00000358249.2_Missense_Mutation_p.A15T	p.A155T	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			4	559	+			155					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.463G>A	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.016891|4.016891	0.75161|0.75161	.|.	.|.	ENSG00000157036|ENSG00000157036	ENST00000287675;ENST00000358249;ENST00000422077|ENST00000453767	T;T;T|.	0.67523|.	-0.27;-0.27;-0.27|.	4.51|4.51	3.56|3.56	0.40772|0.40772	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70378|0.70378	0.3217|0.3217	M|M	0.62154|0.62154	1.92|1.92	0.38780|0.38780	D|D	0.95474|0.95474	P;D|.	0.54601|.	0.913;0.967|.	B;P|.	0.50537|.	0.384;0.643|.	T|T	0.72475|0.72475	-0.4282|-0.4282	10|5	0.17832|.	T|.	0.49|.	-15.2447|-15.2447	15.3041|15.3041	0.73979|0.73979	0.0:0.1405:0.8595:0.0|0.0:0.1405:0.8595:0.0	.|.	105;155|.	Q9Y2C4-4;Q9Y2C4|.	.;EXOG_HUMAN|.	T|D	155;15;105|117	ENSP00000287675:A155T;ENSP00000350987:A15T;ENSP00000404305:A105T|.	ENSP00000287675:A155T|.	A|G	+|+	1|2	0|0	EXOG|EXOG	38520119|38520119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.080000|5.080000	0.64437|0.64437	2.512000|2.512000	0.84698|0.84698	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.318	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		25	46	0	0	0	1	0	25	46				
HAUS3	79441	broad.mit.edu	37	4	2240481	2240481	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2240481T>A	ENST00000243706.4	-	3	1428	c.1199A>T	c.(1198-1200)gAc>gTc	p.D400V	HAUS3_ENST00000506763.1_Missense_Mutation_p.D400V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.D400V|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	400					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGATATATGTCCCGATGCTT	0.303																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1198-1200)gAc>gTc		HAUS augmin-like complex, subunit 3							97.0	101.0	100.0					4																	2240481		2202	4299	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2240481T>A	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1199A>T	4.37:g.2240481T>A	ENSP00000243706:p.Asp400Val					HAUS3_ENST00000506763.1_Missense_Mutation_p.D400V|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.D400V|POLN_ENST00000515357.1_Intron	p.D400V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			3	1428	-			400					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.1199A>T	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756534	0.31137	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.47177	0.85;0.85	5.87	4.69	0.59074	.	0.601605	0.16514	U	0.211131	T	0.46927	0.1418	M	0.69823	2.125	0.53688	D	0.999979	P;P	0.35348	0.496;0.496	B;B	0.36134	0.218;0.218	T	0.48811	-0.9002	10	0.87932	D	0	-47.201	7.2858	0.26337	0.0:0.0733:0.1448:0.7819	.	400;400	B4DF64;Q68CZ6	.;HAUS3_HUMAN	V	400	ENSP00000243706:D400V;ENSP00000392903:D400V	ENSP00000243706:D400V	D	-	2	0	HAUS3	2210279	0.990000	0.36364	0.875000	0.34327	0.397000	0.30659	3.072000	0.50049	1.037000	0.40024	0.482000	0.46254	GAC		0.303	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		21	23	0	0	0	1	0	21	23				
SMOX	54498	broad.mit.edu	37	20	4163429	4163429	+	Missense_Mutation	SNP	G	G	A	rs150061281	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4163429G>A	ENST00000305958.4	+	5	1528	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.V382I|SMOX_ENST00000339123.6_Missense_Mutation_p.V382I|SMOX_ENST00000379460.2_Missense_Mutation_p.V435I	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	435					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GGAGGCCCTCGTCATGGAGAA	0.637																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1303-1305)Gtc>Atc		spermine oxidase	Spermine(DB00127)	G	ILE/VAL,ILE/VAL,,ILE/VAL	0,4406		0,0,2203	66.0	61.0	63.0		1303,1144,,1144	4.6	1.0	20	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,intron,missense	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	29,29,,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,,benign	435/556,382/503,,382/533	4163429	2,13004	2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163429G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1303G>A	20.37:g.4163429G>A	ENSP00000307252:p.Val435Ile					SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.V435I|SMOX_ENST00000278795.3_Missense_Mutation_p.V382I|SMOX_ENST00000339123.6_Missense_Mutation_p.V382I	p.V435I	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1528	+			435					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1303G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.925090	0.34002	0.0	2.33E-4	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.5	4.55	0.56014	Amine oxidase (1);	0.522854	0.22556	N	0.058522	T	0.76622	0.4013	N	0.02412	-0.56	0.24237	N	0.995371	B;B;B;B;B	0.25850	0.007;0.136;0.013;0.005;0.029	B;B;B;B;B	0.15870	0.003;0.014;0.005;0.004;0.004	T	0.64997	-0.6275	10	0.19590	T	0.45	-32.9553	8.2145	0.31503	0.1777:0.0:0.8223:0.0	.	359;435;435;382;382	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	I	382;435;382;435;292	ENSP00000344595:V382I;ENSP00000307252:V435I;ENSP00000278795:V382I;ENSP00000368773:V435I;ENSP00000407269:V292I	ENSP00000278795:V382I	V	+	1	0	SMOX	4111429	0.978000	0.34361	0.969000	0.41365	0.997000	0.91878	1.982000	0.40638	1.340000	0.45581	0.650000	0.86243	GTC		0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		6	23	0	0	0	1	0	6	23				
SETX	23064	broad.mit.edu	37	9	135204232	135204232	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135204232G>A	ENST00000224140.5	-	10	2935	c.2753C>T	c.(2752-2754)aCt>aTt	p.T918I	SETX_ENST00000393220.1_Missense_Mutation_p.T918I|SETX_ENST00000372169.2_Missense_Mutation_p.T918I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	918					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCAGGTACAGTCATAAGATC	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2752-2754)aCt>aTt		senataxin							82.0	76.0	78.0					9																	135204232		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204232G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2753C>T	9.37:g.135204232G>A	ENSP00000224140:p.Thr918Ile					SETX_ENST00000224140.5_Missense_Mutation_p.T918I|SETX_ENST00000393220.1_Missense_Mutation_p.T918I	p.T918I			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2935	-		Myeloproliferative disorder(178;0.204)	918					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.2753C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232919	0.39498	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86769	-2.09;-2.17;-1.79	5.63	2.31	0.28768	.	7739.210000	0.00166	N	0.000000	T	0.78007	0.4216	L	0.29908	0.895	0.09310	N	1	P;P;P	0.38078	0.617;0.483;0.617	B;B;B	0.30029	0.11;0.051;0.11	T	0.67696	-0.5604	10	0.23302	T	0.38	.	5.7923	0.18367	0.18:0.0:0.6312:0.1888	.	918;918;918	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	I	918	ENSP00000224140:T918I;ENSP00000361242:T918I;ENSP00000376913:T918I	ENSP00000224140:T918I	T	-	2	0	SETX	134194053	0.003000	0.15002	0.002000	0.10522	0.366000	0.29705	0.618000	0.24373	0.830000	0.34757	0.655000	0.94253	ACT		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		25	44	0	0	0	1	0	25	44				
F13A1	2162	broad.mit.edu	37	6	6266854	6266854	+	Missense_Mutation	SNP	C	C	T	rs140712764		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:6266854C>T	ENST00000264870.3	-	4	773	c.508G>A	c.(508-510)Gta>Ata	p.V170I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	170					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTCGAAGTACGCCATAGGGA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20884	0.0		0.0	False		,,,				2504	0.0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(508-510)Gta>Ata		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	139.0	125.0	129.0		508	0.3	0.0	6	dbSNP_134	129	0,8600		0,0,4300	yes	missense	F13A1	NM_000129.3	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	170/733	6266854	4,13002	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266854C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.508G>A	6.37:g.6266854C>T	ENSP00000264870:p.Val170Ile						p.V170I	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	773	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	170					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.508G>A	CCDS4496.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.337	1.062075	0.19987	9.08E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.86097	-2.07	5.65	0.339	0.15979	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.273237	0.40222	N	0.001147	T	0.35278	0.0926	N	0.00677	-1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.49370	-0.8947	10	0.36615	T	0.2	.	9.267	0.37647	0.0:0.2791:0.0:0.7209	.	107;170	F5H080;P00488	.;F13A_HUMAN	I	170;107	ENSP00000264870:V170I	ENSP00000264870:V170I	V	-	1	0	F13A1	6211853	1.000000	0.71417	0.001000	0.08648	0.223000	0.24884	0.747000	0.26290	-0.152000	0.11156	-0.238000	0.12139	GTA		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		13	91	0	0	0	1	0	13	91				
PYGB	5834	broad.mit.edu	37	20	25257937	25257937	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25257937C>T	ENST00000216962.4	+	7	940	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	277					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GAGAACATCTCCAGGGTCCTG	0.572																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(829-831)tCc>tTc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						157.0	128.0	138.0					20																	25257937		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25257937C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.830C>T	20.37:g.25257937C>T	ENSP00000216962:p.Ser277Phe						p.S277F	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			7	940	+			277					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.830C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613953	0.87359	.	.	ENSG00000100994	ENST00000216962	D	0.94931	-3.56	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99572	1.0971	10	0.87932	D	0	-36.8295	16.0807	0.81003	0.0:1.0:0.0:0.0	.	277	P11216	PYGB_HUMAN	F	277	ENSP00000216962:S277F	ENSP00000216962:S277F	S	+	2	0	PYGB	25205937	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.525000	0.81892	2.200000	0.70718	0.563000	0.77884	TCC		0.572	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		13	50	0	0	0	1	0	13	50				
POR	5447	broad.mit.edu	37	7	75609690	75609690	+	Missense_Mutation	SNP	G	G	A	rs201365892		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75609690G>A	ENST00000461988.1	+	5	505	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	POR_ENST00000439269.1_5'Flank|POR_ENST00000545601.1_5'UTR|POR_ENST00000450476.1_5'Flank|POR_ENST00000394893.1_Missense_Mutation_p.A134T|POR_ENST00000419840.1_5'UTR	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	131	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GATCGACAACGCCCTGGTGGT	0.617																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(400-402)Gcc>Acc		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	G	THR/ALA	1,4109		0,1,2054	59.0	67.0	64.0		400	-7.7	0.0	7		64	1,8377		0,1,4188	yes	missense	POR	NM_000941.2	58	0,2,6242	AA,AG,GG		0.0119,0.0243,0.016	benign	134/681	75609690	2,12486	2055	4189	6244	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75609690G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.400G>A	7.37:g.75609690G>A	ENSP00000419970:p.Ala134Thr					POR_ENST00000419840.1_5'UTR|POR_ENST00000461988.1_Missense_Mutation_p.A134T|POR_ENST00000545601.1_5'UTR	p.A134T			P16435	NCPR_HUMAN			5	420	+			131			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.400G>A	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.811144|1.811144	0.32053|0.32053	2.43E-4|2.43E-4	1.19E-4|1.19E-4	ENSG00000127948|ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184|ENST00000447222	T;T;T;T;T;T;T;T|.	0.73897|.	-0.79;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	4.81|4.81	-7.67|-7.67	0.01272|0.01272	.|.	0.398015|.	0.31188|.	N|.	0.008098|.	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	B|.	0.22414|.	0.069|.	B|.	0.19148|.	0.024|.	T|T	0.42965|0.42965	-0.9420|-0.9420	10|5	0.35671|.	T|.	0.21|.	-30.0024|-30.0024	15.8415|15.8415	0.78848|0.78848	0.0873:0.0:0.7383:0.1745|0.0873:0.0:0.7383:0.1745	.|.	140|.	Q59ED7|.	.|.	T|H	134;134;134;134;134;134;134;87|106	ENSP00000395813:A134T;ENSP00000390540:A134T;ENSP00000419970:A134T;ENSP00000378355:A134T;ENSP00000409238:A134T;ENSP00000399327:A134T;ENSP00000389409:A134T;ENSP00000400964:A87T|.	ENSP00000378355:A134T|.	A|R	+|+	1|2	0|0	POR|POR	75447626|75447626	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.097000|0.097000	0.18754|0.18754	1.751000|1.751000	0.38339|0.38339	-1.037000|-1.037000	0.03283|0.03283	-0.268000|-0.268000	0.10319|0.10319	GCC|CGC		0.617	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		23	23	0	0	0	1	0	23	23				
EPB41L3	23136	broad.mit.edu	37	18	5397140	5397140	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5397140C>T	ENST00000341928.2	-	18	3098	c.2758G>A	c.(2758-2760)Gcc>Acc	p.A920T	EPB41L3_ENST00000427684.2_Missense_Mutation_p.A217T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A751T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A920T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A225T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A698T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A698T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAAGCAGCGGCTGTCTCTTCC	0.512																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2758-2760)Gcc>Acc		erythrocyte membrane protein band 4.1-like 3							109.0	90.0	97.0					18																	5397140		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397140C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2758G>A	18.37:g.5397140C>T	ENSP00000343158:p.Ala920Thr					EPB41L3_ENST00000542146.1_Missense_Mutation_p.A225T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A698T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A217T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A751T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A920T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A698T|EPB41L3_ENST00000542652.2_5'UTR	p.A920T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3098	-			920			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2758G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395315	0.25205	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.87	2.99	0.34606	.	0.872877	0.10289	N	0.692594	T	0.60196	0.2250	L	0.43152	1.355	0.20196	N	0.999924	D;D;P;B;B;B;B;B	0.76494	0.999;0.999;0.923;0.073;0.001;0.046;0.301;0.394	D;D;P;B;B;B;B;B	0.91635	0.994;0.999;0.81;0.071;0.001;0.067;0.103;0.114	T	0.47947	-0.9077	10	0.14252	T	0.57	.	8.7368	0.34534	0.0:0.7387:0.1254:0.1359	.	751;217;225;312;589;698;920;155	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	920;589;751;589;217;225;920;698	ENSP00000343158:A920T;ENSP00000441174:A751T;ENSP00000392195:A217T;ENSP00000442233:A225T;ENSP00000341138:A920T;ENSP00000382981:A698T	ENSP00000343158:A920T	A	-	1	0	EPB41L3	5387140	0.531000	0.26338	0.002000	0.10522	0.053000	0.15095	0.730000	0.26043	0.829000	0.34733	0.591000	0.81541	GCC		0.512	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	45	0	0	0	1	0	32	45				
THSD7A	221981	broad.mit.edu	37	7	11447030	11447030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11447030C>T	ENST00000423059.4	-	20	4070	c.3819G>A	c.(3817-3819)tgG>tgA	p.W1273*	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1273	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTTCATCTGCCAGTTCTTCT	0.478										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3817-3819)tgG>tgA		thrombospondin, type I, domain containing 7A							63.0	63.0	63.0					7																	11447030		1943	4156	6099	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11447030C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3819G>A	7.37:g.11447030C>T	ENSP00000406482:p.Trp1273*	HNSCC(18;0.044)				AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	p.W1273*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	20	4070	-			1273			TSP type-1 12.			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.3819G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	45	11.706440	0.99593	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.37	5.37	0.77165	.	0.057184	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	.	.	.	X	1273	.	ENSP00000262042:W1273X	W	-	3	0	THSD7A	11413555	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.785000	0.68998	2.679000	0.91253	0.585000	0.79938	TGG		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	6	0	0	0	1	0	5	6				
WNT7A	7476	broad.mit.edu	37	3	13896129	13896129	+	Missense_Mutation	SNP	C	C	T	rs199592697		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13896129C>T	ENST00000285018.4	-	3	774	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	157					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GATGCCGTAGCGGATGTCGGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19286	0.0		0.0	False		,,,				2504	0.001					ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(469-471)cGc>cAc		wingless-type MMTV integration site family, member 7A							110.0	111.0	110.0					3																	13896129		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896129C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.470G>A	3.37:g.13896129C>T	ENSP00000285018:p.Arg157His						p.R157H	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	774	-			157					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.470G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621202	0.46736	.	.	ENSG00000154764	ENST00000285018	T	0.76060	-0.99	5.38	5.38	0.77491	.	0.241893	0.42053	D	0.000768	T	0.64450	0.2599	L	0.35793	1.09	0.48901	D	0.999726	B	0.22800	0.075	B	0.21546	0.035	T	0.59663	-0.7412	10	0.29301	T	0.29	.	12.4819	0.55847	0.0:0.9239:0.0:0.0761	.	157	O00755	WNT7A_HUMAN	H	157	ENSP00000285018:R157H	ENSP00000285018:R157H	R	-	2	0	WNT7A	13871130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.659000	0.46741	2.528000	0.85240	0.561000	0.74099	CGC		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		4	102	0	0	0	1	0	4	102				
FAM170A	340069	broad.mit.edu	37	5	118970010	118970010	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118970010G>A	ENST00000515256.1	+	3	739	c.567G>A	c.(565-567)ggG>ggA	p.G189G				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	189					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGCCCAGTGGGGAGGAGAAAG	0.562																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(565-567)ggG>ggA		family with sequence similarity 170, member A							82.0	89.0	87.0					5																	118970010		2072	4204	6276	SO:0001819	synonymous_variant	340069					intracellular	zinc ion binding	g.chr5:118970010G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.567G>A	5.37:g.118970010G>A							p.G189G			A1A519	F170A_HUMAN			3	739	+			189					Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37	c.567G>A																																																																																					0.562	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		19	22	0	0	0	1	0	19	22				
BEND7	222389	broad.mit.edu	37	10	13523090	13523090	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13523090A>C	ENST00000396900.2	-	6	871	c.872T>G	c.(871-873)tTt>tGt	p.F291C	BEND7_ENST00000396898.2_Missense_Mutation_p.F304C|BEND7_ENST00000378605.3_Missense_Mutation_p.F252C|BEND7_ENST00000341083.3_Missense_Mutation_p.F239C			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	291	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTTAGGCATAAACACGTCAAA	0.398																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(715-717)tTt>tGt		BEN domain containing 7							113.0	108.0	109.0					10																	13523090		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13523090A>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.872T>G	10.37:g.13523090A>C	ENSP00000380108:p.Phe291Cys					BEND7_ENST00000378605.3_Missense_Mutation_p.F252C|BEND7_ENST00000396900.2_Missense_Mutation_p.F291C|BEND7_ENST00000396898.2_Missense_Mutation_p.F304C	p.F239C	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			6	1012	-			291					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.716T>G		.	.	.	.	.	.	.	.	.	.	A	18.04	3.533843	0.64972	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.61627	0.09;0.1;0.15;0.2	5.97	4.84	0.62591	.	0.088379	0.85682	D	0.000000	T	0.56702	0.2003	N	0.08118	0	0.49687	D	0.999817	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.64711	-0.6343	10	0.87932	D	0	-10.7893	11.784	0.52032	0.9319:0.0:0.0681:0.0	.	304;239	E5RFC0;Q8N7W2-3	.;.	C	291;239;304;252	ENSP00000380108:F291C;ENSP00000345773:F239C;ENSP00000380107:F304C;ENSP00000367868:F252C	ENSP00000345773:F239C	F	-	2	0	BEND7	13563096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.026000	0.64103	1.091000	0.41335	0.533000	0.62120	TTT		0.398	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		17	60	0	0	0	1	0	17	60				
CLMP	79827	broad.mit.edu	37	11	122944221	122944221	+	Silent	SNP	G	G	A	rs138871742		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:122944221G>A	ENST00000448775.2	-	7	1423	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	361					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGGGGATCATGCTGGGTGTGG	0.532																																						ENST00000448775.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(1081-1083)agC>agT		CXADR-like membrane protein		G		0,4404		0,0,2202	297.0	277.0	284.0		1083	5.4	1.0	11	dbSNP_134	284	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CLMP	NM_024769.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		361/374	122944221	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122944221G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.1083C>T	11.37:g.122944221G>A						CLMP_ENST00000530371.1_5'UTR	p.S361S	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN			7	1423	-			361						Silent	SNP	ENST00000448775.2	37	c.1083C>T	CCDS8441.1																																																																																				0.532	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		46	90	0	0	0	1	0	46	90				
ZAP70	7535	broad.mit.edu	37	2	98351716	98351716	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98351716G>T	ENST00000264972.5	+	10	1301	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	ZAP70_ENST00000451498.2_Missense_Mutation_p.K55N|ZAP70_ENST00000442208.1_Missense_Mutation_p.K236N|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCAGGAAGCAGATCGACG	0.657																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1084-1086)aaG>aaT		zeta-chain (TCR) associated protein kinase 70kDa							92.0	72.0	79.0					2																	98351716		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351716G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1086G>T	2.37:g.98351716G>T	ENSP00000264972:p.Lys362Asn					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.K236N|ZAP70_ENST00000451498.2_Missense_Mutation_p.K55N	p.K362N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1301	+			362			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1086G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885327	0.33255	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.82893	-1.66;-1.66;-1.66	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	T	0.71567	0.3355	N	0.22421	0.69	0.58432	D	0.999992	P;P	0.40602	0.71;0.723	B;B	0.38985	0.287;0.254	T	0.68689	-0.5342	10	0.19147	T	0.46	.	12.5706	0.56334	0.0:0.0:0.8339:0.1661	.	236;362	P43403-3;P43403	.;ZAP70_HUMAN	N	362;236;55	ENSP00000264972:K362N;ENSP00000411141:K236N;ENSP00000400475:K55N	ENSP00000264972:K362N	K	+	3	2	ZAP70	97718148	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.851000	0.39338	2.853000	0.98044	0.655000	0.94253	AAG		0.657	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			9	35	1	0	1.12685e-05	1	1.16601e-05	9	35				
EPS15L1	58513	broad.mit.edu	37	19	16514562	16514562	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16514562C>T	ENST00000248070.6	-	15	1747	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	EPS15L1_ENST00000602009.1_Silent_p.T382T|EPS15L1_ENST00000594975.1_Silent_p.T536T|EPS15L1_ENST00000535753.2_Silent_p.T536T|EPS15L1_ENST00000597937.1_Silent_p.T536T|EPS15L1_ENST00000455140.2_Silent_p.T536T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	536					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T536T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTCGTCTTGCGTTGACTTCA	0.587																																						ENST00000602009.1																			1	Substitution - coding silent(1)	p.T536T(1)	breast(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(1144-1146)acG>acA		epidermal growth factor receptor pathway substrate 15-like 1							149.0	127.0	135.0					19																	16514562		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16514562C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1608G>A	19.37:g.16514562C>T						EPS15L1_ENST00000597937.1_Silent_p.T536T|EPS15L1_ENST00000594975.1_Silent_p.T536T|EPS15L1_ENST00000535753.2_Silent_p.T536T|EPS15L1_ENST00000248070.6_Silent_p.T536T|EPS15L1_ENST00000455140.2_Silent_p.T536T	p.T382T			Q9UBC2	EP15R_HUMAN			9	2041	-			536					A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1146G>A	CCDS32944.1																																																																																				0.587	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		30	51	0	0	0	1	0	30	51				
EPHA4	2043	broad.mit.edu	37	2	222294822	222294822	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222294822C>T	ENST00000281821.2	-	15	2587	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	EPHA4_ENST00000409938.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000392071.4_Missense_Mutation_p.C798Y|EPHA4_ENST00000409854.1_Missense_Mutation_p.C849Y	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	849	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CGCAATGGGGCAGTCCATTGG	0.512																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2545-2547)tGc>tAc		EPH receptor A4							119.0	109.0	113.0					2																	222294822		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294822C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2546G>A	2.37:g.222294822C>T	ENSP00000281821:p.Cys849Tyr					EPHA4_ENST00000409938.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000409854.1_Missense_Mutation_p.C849Y|EPHA4_ENST00000392071.4_Missense_Mutation_p.C798Y	p.C849Y	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2587	-		Renal(207;0.0183)	849			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2546G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902956	0.92035	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94209	0.7457	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	849	P54764	EPHA4_HUMAN	Y	849;849;849;798	ENSP00000281821:C849Y;ENSP00000386276:C849Y;ENSP00000386829:C849Y;ENSP00000375923:C798Y	ENSP00000281821:C849Y	C	-	2	0	EPHA4	222003066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGC		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			25	40	0	0	0	1	0	25	40				
VPS41	27072	broad.mit.edu	37	7	38791805	38791805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:38791805G>A	ENST00000310301.4	-	22	1951	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	VPS41_ENST00000395969.2_Nonsense_Mutation_p.R608*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	633					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTACTGTCTCGGAGAAAGGGA	0.433																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1897-1899)Cga>Tga		vacuolar protein sorting 41 homolog (S. cerevisiae)							236.0	217.0	223.0					7																	38791805		2203	4300	6503	SO:0001587	stop_gained	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38791805G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1897C>T	7.37:g.38791805G>A	ENSP00000309457:p.Arg633*					VPS41_ENST00000395969.2_Nonsense_Mutation_p.R608*	p.R633*	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			22	1951	-			633					E9PF36|Q86TP8|Q99851|Q99852	Nonsense_Mutation	SNP	ENST00000310301.4	37	c.1897C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	40	7.923642	0.98563	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0746	13.1349	0.59403	0.0:0.0:0.7361:0.2639	.	.	.	.	X	633;608	.	ENSP00000309457:R633X	R	-	1	2	VPS41	38758330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.656000	0.61483	2.776000	0.95493	0.650000	0.86243	CGA		0.433	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			47	60	0	0	0	1	0	47	60				
SACS	26278	broad.mit.edu	37	13	23929388	23929388	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:23929388C>T	ENST00000382292.3	-	7	1636	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	SACS_ENST00000382298.3_Missense_Mutation_p.E455K|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	455					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGCTGCTTTCCTCACCAGGT	0.478																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1363-1365)Gaa>Aaa		spastic ataxia of Charlevoix-Saguenay (sacsin)							67.0	62.0	63.0					13																	23929388		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929388C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1363G>A	13.37:g.23929388C>T	ENSP00000371729:p.Glu455Lys					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.E455K	p.E455K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1951	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	455					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1363G>A	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.309292|4.309292	0.81247|0.81247	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156|ENST00000455470	T;T;T|.	0.18657|.	2.2;2.2;2.2|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.051871|.	0.85682|.	D|.	0.000000|.	T|T	0.70290|0.70290	0.3207|0.3207	L|L	0.47016|0.47016	1.485|1.485	0.58432|0.58432	D|D	0.999998|0.999998	D;D;P|.	0.71674|.	0.998;0.972;0.904|.	D;P;P|.	0.71184|.	0.972;0.861;0.77|.	T|T	0.64296|0.64296	-0.6441|-0.6441	10|5	0.51188|.	T|.	0.08|.	.|.	20.2406|20.2406	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	354;242;455|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	K|E	455;455;79|354	ENSP00000371729:E455K;ENSP00000371735:E455K;ENSP00000390925:E79K|.	ENSP00000371729:E455K|.	E|G	-|-	1|2	0|0	SACS|SACS	22827388|22827388	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.248000|0.248000	0.25809|0.25809	7.764000|7.764000	0.85297|0.85297	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	29	0	0	0	1	0	20	29				
PNLIP	5406	broad.mit.edu	37	10	118313343	118313343	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118313343C>T	ENST00000369221.2	+	6	592	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	188					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	CCATTGGACGCATCACAGGTT	0.547																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(562-564)cgC>cgT		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						79.0	64.0	69.0					10																	118313343		2203	4300	6503	SO:0001819	synonymous_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118313343C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.564C>T	10.37:g.118313343C>T							p.R188R	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	6	592	+			188					Q5VSQ2	Silent	SNP	ENST00000369221.2	37	c.564C>T	CCDS7594.1																																																																																				0.547	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		11	14	0	0	0	1	0	11	14				
MYH15	22989	broad.mit.edu	37	3	108163617	108163617	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108163617G>A	ENST00000273353.3	-	23	2641	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	862						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCAGTCCAGCTACTTCTTC	0.443																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2584-2586)gCt>gTt		myosin, heavy chain 15							137.0	130.0	132.0					3																	108163617		1975	4176	6151	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163617G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2585C>T	3.37:g.108163617G>A	ENSP00000273353:p.Ala862Val						p.A862V	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			23	2641	-			862						Missense_Mutation	SNP	ENST00000273353.3	37	c.2585C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472524	0.26423	.	.	ENSG00000144821	ENST00000273353	D	0.93488	-3.23	5.27	0.0731	0.14389	.	.	.	.	.	D	0.91226	0.7235	M	0.62723	1.935	0.32156	N	0.583523	B	0.25609	0.13	B	0.30782	0.12	D	0.87972	0.2737	9	0.66056	D	0.02	.	10.3398	0.43870	0.3603:0.0:0.6397:0.0	.	862	Q9Y2K3	MYH15_HUMAN	V	862	ENSP00000273353:A862V	ENSP00000273353:A862V	A	-	2	0	MYH15	109646307	0.980000	0.34600	0.000000	0.03702	0.001000	0.01503	1.766000	0.38491	0.014000	0.14944	-0.355000	0.07637	GCT		0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		32	54	0	0	0	1	0	32	54				
NELFCD	51497	broad.mit.edu	37	20	57564939	57564939	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57564939G>A	ENST00000344018.3	+	7	738	c.711G>A	c.(709-711)acG>acA	p.T237T	NELFCD_ENST00000602795.1_Silent_p.T246T			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	237					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											GGGAGCACACGTACCTGTTTG	0.642																																						ENST00000602795.1																			0											c.(736-738)acG>acA		negative elongation factor complex member C/D							70.0	58.0	62.0					20																	57564939		2203	4300	6503	SO:0001819	synonymous_variant	51497							g.chr20:57564939G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.711G>A	20.37:g.57564939G>A						NELFCD_ENST00000344018.3_Silent_p.T237T	p.T246T							7	786	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.738G>A																																																																																					0.642	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		23	29	0	0	0	1	0	23	29				
HERC2P2	400322	broad.mit.edu	37	15	23330118	23330118	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:23330118G>T	ENST00000560464.1	-	0	1419									hect domain and RLD 2 pseudogene 2																		CAGGAGCGCAGACCTCCTTGT	0.383																																						ENST00000560464.1																			0																																																			0							g.chr15:23330118G>T	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23330118G>T														0	1419	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.383	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			36	9	1	0	5.44703e-19	1	6.02136e-19	36	9				
GIT2	9815	broad.mit.edu	37	12	110429499	110429499	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110429499C>T	ENST00000355312.3	-	2	118	c.119G>A	c.(118-120)aGt>aAt	p.S40N	GIT2_ENST00000551209.1_Missense_Mutation_p.S40N|GIT2_ENST00000320063.9_Missense_Mutation_p.S40N|GIT2_ENST00000356259.4_Missense_Mutation_p.S40N|GIT2_ENST00000343646.5_Missense_Mutation_p.S40N|GIT2_ENST00000361006.5_Missense_Mutation_p.S40N|GIT2_ENST00000553118.1_Missense_Mutation_p.S40N|GIT2_ENST00000360185.4_Missense_Mutation_p.S40N|GIT2_ENST00000547815.1_Missense_Mutation_p.S40N|GIT2_ENST00000457474.2_Missense_Mutation_p.S40N|GIT2_ENST00000354574.4_Missense_Mutation_p.S40N|GIT2_ENST00000338373.5_Missense_Mutation_p.S40N	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	40	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GCGCCCTAGACTCCGATGGAC	0.483																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(118-120)aGt>aAt		G protein-coupled receptor kinase interacting ArfGAP 2							148.0	125.0	133.0					12																	110429499		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110429499C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.119G>A	12.37:g.110429499C>T	ENSP00000347464:p.Ser40Asn					GIT2_ENST00000551209.1_Missense_Mutation_p.S40N|GIT2_ENST00000320063.9_Missense_Mutation_p.S40N|GIT2_ENST00000361006.5_Missense_Mutation_p.S40N|GIT2_ENST00000457474.2_Missense_Mutation_p.S40N|GIT2_ENST00000553118.1_Missense_Mutation_p.S40N|GIT2_ENST00000338373.5_Missense_Mutation_p.S40N|GIT2_ENST00000355312.3_Missense_Mutation_p.S40N|GIT2_ENST00000354574.4_Missense_Mutation_p.S40N|GIT2_ENST00000343646.5_Missense_Mutation_p.S40N|GIT2_ENST00000547815.1_Missense_Mutation_p.S40N|GIT2_ENST00000356259.4_Missense_Mutation_p.S40N	p.S40N			Q14161	GIT2_HUMAN			2	283	-			40			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.119G>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909912	0.72983	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.31752	0.955	0.80722	D	1	B;B;B;B;B;B;B	0.22851	0.003;0.005;0.023;0.023;0.076;0.014;0.053	B;B;B;B;B;B;B	0.25140	0.032;0.032;0.034;0.034;0.053;0.058;0.047	T	0.10941	-1.0608	10	0.11182	T	0.66	.	17.7647	0.88475	0.0:1.0:0.0:0.0	.	40;40;40;40;40;40;40	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	N	40	ENSP00000347464:S40N;ENSP00000353312:S40N;ENSP00000346585:S40N;ENSP00000340342:S40N;ENSP00000340938:S40N;ENSP00000348595:S40N;ENSP00000391813:S40N;ENSP00000354282:S40N;ENSP00000447465:S40N;ENSP00000448832:S40N;ENSP00000450348:S40N;ENSP00000323833:S40N	ENSP00000323833:S40N	S	-	2	0	GIT2	108913882	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.818000	0.86416	2.444000	0.82710	0.655000	0.94253	AGT		0.483	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		23	40	0	0	0	1	0	23	40				
CABIN1	23523	broad.mit.edu	37	22	24562792	24562792	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24562792G>A	ENST00000398319.2	+	32	5578	c.5193G>A	c.(5191-5193)cgG>cgA	p.R1731R	CABIN1_ENST00000405822.2_Silent_p.R1652R|CABIN1_ENST00000263119.5_Silent_p.R1731R|CABIN1_ENST00000337989.7_Silent_p.R156R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1731					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCAACCACCGGCCTGTGGCCA	0.667																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5191-5193)cgG>cgA		calcineurin binding protein 1							39.0	43.0	42.0					22																	24562792		2203	4299	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24562792G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5193G>A	22.37:g.24562792G>A						CABIN1_ENST00000405822.2_Silent_p.R1652R|CABIN1_ENST00000263119.5_Silent_p.R1731R|CABIN1_ENST00000337989.7_Silent_p.R156R	p.R1731R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			32	5578	+			1731					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.5193G>A	CCDS13823.1																																																																																				0.667	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		11	12	0	0	0	1	0	11	12				
TIPARP	25976	broad.mit.edu	37	3	156411910	156411910	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156411910A>G	ENST00000461166.1	+	3	1607	c.1019A>G	c.(1018-1020)aAc>aGc	p.N340S	TIPARP_ENST00000295924.7_Missense_Mutation_p.N340S|TIPARP_ENST00000542783.1_Missense_Mutation_p.N340S|TIPARP_ENST00000486483.1_Missense_Mutation_p.N340S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	340	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCAATGTCAACTCTATTTAC	0.418																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1018-1020)aAc>aGc		TCDD-inducible poly(ADP-ribose) polymerase							152.0	150.0	151.0					3																	156411910		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411910A>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1019A>G	3.37:g.156411910A>G	ENSP00000420612:p.Asn340Ser					TIPARP_ENST00000486483.1_Missense_Mutation_p.N340S|TIPARP_ENST00000295924.7_Missense_Mutation_p.N340S|TIPARP_ENST00000542783.1_Missense_Mutation_p.N340S	p.N340S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1607	+			340			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1019A>G	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	A	9.979	1.227665	0.22542	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65	5.14	5.14	0.70334	WWE domain (1);	0.388350	0.28230	N	0.016119	T	0.12646	0.0307	N	0.04508	-0.205	0.32965	D	0.521521	B	0.06786	0.001	B	0.04013	0.001	T	0.16808	-1.0390	10	0.20046	T	0.44	.	6.694	0.23189	0.7646:0.1553:0.0801:0.0	.	340	Q7Z3E1	PARPT_HUMAN	S	340	ENSP00000418757:N340S;ENSP00000295924:N340S;ENSP00000420612:N340S;ENSP00000419982:N340S;ENSP00000418829:N340S;ENSP00000438345:N340S	ENSP00000295924:N340S	N	+	2	0	TIPARP	157894604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.339000	0.33885	2.087000	0.62958	0.533000	0.62120	AAC		0.418	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		36	60	0	0	0	1	0	36	60				
SDK1	221935	broad.mit.edu	37	7	4285377	4285377	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4285377C>T	ENST00000404826.2	+	44	6460	c.6321C>T	c.(6319-6321)ggC>ggT	p.G2107G	SDK1_ENST00000389531.3_Silent_p.G2087G|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2107					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTACAACGGCGCCGTGCTGA	0.607																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(6319-6321)ggC>ggT		sidekick cell adhesion molecule 1							89.0	77.0	81.0					7																	4285377		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4285377C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6321C>T	7.37:g.4285377C>T						SDK1_ENST00000389531.3_Silent_p.G2087G|SDK1_ENST00000466611.1_3'UTR	p.G2107G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	44	6460	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2107					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.6321C>T	CCDS34590.1																																																																																				0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		13	17	0	0	0	1	0	13	17				
CSTF2T	23283	broad.mit.edu	37	10	53457635	53457635	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457635G>A	ENST00000331173.4	-	1	1720	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	559					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AAActgctaggctggcttcca	0.532																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1675-1677)Cct>Tct		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							164.0	121.0	135.0					10																	53457635		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457635G>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1675C>T	10.37:g.53457635G>A	ENSP00000332444:p.Pro559Ser					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.P559S	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1720	-			559					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1675C>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501214	0.26861	.	.	ENSG00000177613	ENST00000331173	T	0.25250	1.81	4.65	4.65	0.58169	.	0.376799	0.27315	N	0.019923	T	0.19644	0.0472	L	0.27053	0.805	0.35570	D	0.805379	B	0.22080	0.064	B	0.20184	0.028	T	0.14282	-1.0478	10	0.56958	D	0.05	-5.2168	13.2469	0.60028	0.0:0.0:1.0:0.0	.	559	Q9H0L4	CSTFT_HUMAN	S	559	ENSP00000332444:P559S	ENSP00000332444:P559S	P	-	1	0	CSTF2T	53127641	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	1.480000	0.35464	2.599000	0.87857	0.655000	0.94253	CCT		0.532	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		4	13	0	0	0	1	0	4	13				
AGT	183	broad.mit.edu	37	1	230845754	230845754	+	Silent	SNP	G	G	A	rs543740975		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:230845754G>A	ENST00000366667.4	-	2	1057	c.843C>T	c.(841-843)taC>taT	p.Y281Y	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	281			Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403). {ECO:0000269|PubMed:1394429, ECO:0000269|PubMed:7607642}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAAGTGGACGTAGGTGTTGA	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0					ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(841-843)taC>taT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						122.0	127.0	125.0					1																	230845754		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845754G>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.843C>T	1.37:g.230845754G>A							p.Y281Y	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	1057	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	281		Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403).			Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.843C>T	CCDS1585.1																																																																																				0.547	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		63	98	0	0	0	1	0	63	98				
RAB19	401409	broad.mit.edu	37	7	140111851	140111851	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140111851C>A	ENST00000356407.3	+	2	447	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RAB19_ENST00000275874.5_Missense_Mutation_p.L174M|RAB19_ENST00000537763.1_Missense_Mutation_p.L127M			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	127					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGTCATTATGCTGATTGGTAT	0.428																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(520-522)Ctg>Atg		RAB19, member RAS oncogene family							183.0	164.0	170.0					7																	140111851		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111851C>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.379C>A	7.37:g.140111851C>A	ENSP00000348778:p.Leu127Met					RAB19_ENST00000356407.3_Missense_Mutation_p.L127M|RAB19_ENST00000537763.1_Missense_Mutation_p.L127M	p.L174M			A4D1S5	RAB19_HUMAN			4	718	+	Melanoma(164;0.0142)		127					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.520C>A	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981893	0.34942	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.56	4.68	0.58851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.90705	3.14	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.93048	0.6463	10	0.87932	D	0	.	9.8847	0.41255	0.0:0.827:0.0:0.173	.	127	A4D1S5	RAB19_HUMAN	M	127;174;127;127	ENSP00000420782:L127M;ENSP00000275874:L174M;ENSP00000440167:L127M;ENSP00000348778:L127M	ENSP00000275874:L174M	L	+	1	2	RAB19	139758320	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	3.015000	0.49599	1.340000	0.45581	0.543000	0.68304	CTG		0.428	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			46	101	1	0	7.77092e-38	1	8.72875e-38	46	101				
BMS1	9790	broad.mit.edu	37	10	43325850	43325850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43325850C>T	ENST00000374518.5	+	22	3661	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1200					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R1200G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCCGTCATACGCGAGCCTCA	0.512																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.R1200G(1)	ovary(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3598-3600)Cgc>Tgc		BMS1 ribosome biogenesis factor							54.0	55.0	55.0					10																	43325850		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43325850C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3598C>T	10.37:g.43325850C>T	ENSP00000363642:p.Arg1200Cys						p.R1200C	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			22	3661	+			1200					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3598C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660764	0.67700	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.78	-1.25	0.09405	.	0.068390	0.53938	D	0.000048	T	0.39733	0.1089	M	0.80183	2.485	0.43287	D	0.995266	D	0.76494	0.999	P	0.56088	0.791	T	0.38200	-0.9672	10	0.38643	T	0.18	.	10.9474	0.47308	0.6134:0.2948:0.0918:0.0	.	1200	Q14692	BMS1_HUMAN	C	1200	ENSP00000363642:R1200C	ENSP00000363642:R1200C	R	+	1	0	BMS1	42645856	0.988000	0.35896	0.828000	0.32881	0.873000	0.50193	1.471000	0.35365	-0.095000	0.12351	0.306000	0.20318	CGC		0.512	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		21	30	0	0	0	1	0	21	30				
SOS1	6654	broad.mit.edu	37	2	39237759	39237759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39237759G>A	ENST00000426016.1	-	16	2562	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.R826*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R826*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	826	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTGGTATGTCGAATCATTTTC	0.338									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2476-2478)Cga>Tga		son of sevenless homolog 1 (Drosophila)							142.0	134.0	137.0					2																	39237759		2203	4300	6503	SO:0001587	stop_gained	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39237759G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2476C>T	2.37:g.39237759G>A	ENSP00000387784:p.Arg826*					SOS1_ENST00000395038.2_Nonsense_Mutation_p.R826*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R826*	p.R826*			Q07889	SOS1_HUMAN			16	2562	-		all_hematologic(82;0.21)	826			Ras-GEF.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.2476C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	38	7.080402	0.98048	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	.	.	.	5.61	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4071	0.55445	0.0:0.0:0.4739:0.5261	.	.	.	.	X	826;826;558;826;826	.	ENSP00000263879:R826X	R	-	1	2	SOS1	39091263	0.992000	0.36948	1.000000	0.80357	0.893000	0.52053	1.662000	0.37418	1.317000	0.45149	0.549000	0.68633	CGA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		21	34	0	0	0	1	0	21	34				
ITPR2	3709	broad.mit.edu	37	12	26572045	26572045	+	Silent	SNP	G	G	A	rs145667380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26572045G>A	ENST00000381340.3	-	50	7463	c.7047C>T	c.(7045-7047)caC>caT	p.H2349H	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2349					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATACGCCACGTGATAGAGAA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18778	0.001		0.0	False		,,,				2504	0.0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7045-7047)caC>caT		inositol 1,4,5-trisphosphate receptor, type 2							89.0	96.0	94.0					12																	26572045		2022	4187	6209	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572045G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7047C>T	12.37:g.26572045G>A						RP11-513G19.1_ENST00000535324.1_RNA	p.H2349H	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			50	7463	-	Colorectal(261;0.0847)		2349					O94773	Silent	SNP	ENST00000381340.3	37	c.7047C>T	CCDS41764.1																																																																																				0.443	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	25	0	0	0	1	0	7	25				
KMT2B	9757	broad.mit.edu	37	19	36219726	36219726	+	Silent	SNP	G	G	A	rs377174050		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36219726G>A	ENST00000222270.7	+	20	4623	c.4623G>A	c.(4621-4623)gcG>gcA	p.A1541A	KMT2B_ENST00000420124.1_Silent_p.A1541A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1541					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)										ATGTCTATGCGCAGTGGAGAC	0.617																																						ENST00000222270.7																			0											c.(4621-4623)gcG>gcA				G		1,4073		0,1,2036	54.0	59.0	57.0		4623	1.5	1.0	19		57	0,8388		0,0,4194	no	coding-synonymous	MLL4	NM_014727.1		0,1,6230	AA,AG,GG		0.0,0.0245,0.0080		1541/2716	36219726	1,12461	2037	4194	6231	SO:0001819	synonymous_variant	0							g.chr19:36219726G>A	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.4623G>A	19.37:g.36219726G>A						KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.A1541A	p.A1541A	NM_014727.1	NP_055542.1					20	4623	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4623G>A	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	13	0	0	0	1	0	7	13				
SLC22A24	283238	broad.mit.edu	37	11	62910984	62910984	+	Missense_Mutation	SNP	G	G	A	rs556942414	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62910984G>A	ENST00000417740.1	-	1	709	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.R90C	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	90					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TGGATAAAGCGCTGACACTTC	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		18377	0.0		0.003	False		,,,				2504	0.0					ENST00000417740.1																			0				kidney(1)|stomach(1)	2						c.(268-270)Cgc>Tgc		solute carrier family 22, member 24							95.0	101.0	100.0					11																	62910984		692	1591	2283	SO:0001583	missense	283238							g.chr11:62910984G>A		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.268C>T	11.37:g.62910984G>A	ENSP00000396586:p.Arg90Cys					SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.R90C	p.R90C	NM_001136506.2	NP_001129978.2					1	709	-									Missense_Mutation	SNP	ENST00000417740.1	37	c.268C>T		.	.	.	.	.	.	.	.	.	.	G	9.331	1.060480	0.19987	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.39592	1.07;1.07	2.42	1.46	0.22682	.	0.000000	0.64402	U	0.000008	T	0.52517	0.1739	M	0.89658	3.05	0.09310	N	0.999995	D	0.61697	0.99	P	0.48270	0.572	T	0.52381	-0.8583	10	0.62326	D	0.03	.	8.2385	0.31640	0.0:0.0:0.7607:0.2393	.	90	C9JC66	.	C	90	ENSP00000396586:R90C;ENSP00000321549:R90C	ENSP00000321549:R90C	R	-	1	0	SLC22A24	62667560	0.085000	0.21516	0.003000	0.11579	0.137000	0.21094	1.910000	0.39927	0.352000	0.24053	0.491000	0.48974	CGC		0.557	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586		10	16	0	0	0	1	0	10	16				
SLC6A12	6539	broad.mit.edu	37	12	304491	304491	+	Silent	SNP	G	G	A	rs374234039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:304491G>A	ENST00000428720.1	-	13	2072	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000359674.4_Silent_p.G443G|SLC6A12_ENST00000397296.2_Silent_p.G443G|SLC6A12_ENST00000424061.2_Silent_p.G443G|SLC6A12_ENST00000536824.1_Silent_p.G443G	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	443					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGTACATCCCGCCCTGTGGGG	0.562																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1327-1329)ggC>ggT		solute carrier family 6 (neurotransmitter transporter), member 12		G	,,,	0,4406		0,0,2203	154.0	127.0	136.0		1329,1329,1329,1329	0.0	1.0	12		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	443/615,443/615,443/615,443/615	304491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:304491G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1329C>T	12.37:g.304491G>A						SLC6A12_ENST00000424061.2_Silent_p.G443G|SLC6A12_ENST00000397296.2_Silent_p.G443G|SLC6A12_ENST00000359674.4_Silent_p.G443G|SLC6A12_ENST00000536824.1_Silent_p.G443G	p.G443G	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		13	2072	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		443					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1329C>T	CCDS8501.1																																																																																				0.562	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		17	19	0	0	0	1	0	17	19				
ZNF436	80818	broad.mit.edu	37	1	23689057	23689057	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23689057G>A	ENST00000314011.4	-	4	954	c.818C>T	c.(817-819)aCg>aTg	p.T273M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCACCCGTGTGGGTCCT	0.532																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(817-819)aCg>aTg		zinc finger protein 436							105.0	109.0	107.0					1																	23689057		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23689057G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.818C>T	1.37:g.23689057G>A	ENSP00000313582:p.Thr273Met					ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M|ZNF436_ENST00000374609.1_Missense_Mutation_p.T273M	p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	954	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	273					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.818C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471717	0.63737	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.53514	0.1801	M	0.74467	2.265	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.54503	-0.8284	10	0.87932	D	0	-19.2469	17.535	0.87827	0.0:0.0:1.0:0.0	.	273	Q9C0F3	ZN436_HUMAN	M	273	ENSP00000313582:T273M;ENSP00000363737:T273M;ENSP00000363736:T273M	ENSP00000313582:T273M	T	-	2	0	ZNF436	23561644	1.000000	0.71417	0.964000	0.40570	0.616000	0.37450	7.992000	0.88273	2.739000	0.93911	0.655000	0.94253	ACG		0.532	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		45	66	0	0	0	1	0	45	66				
ARID4A	5926	broad.mit.edu	37	14	58785293	58785293	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58785293G>A	ENST00000355431.3	+	6	681	c.308G>A	c.(307-309)cGt>cAt	p.R103H	ARID4A_ENST00000348476.3_Missense_Mutation_p.R103H|ARID4A_ENST00000431317.2_Missense_Mutation_p.R103H|ARID4A_ENST00000395168.3_Missense_Mutation_p.R103H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	103					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACATTGAGACGTACCTCACTT	0.388																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(307-309)cGt>cAt		AT rich interactive domain 4A (RBP1-like)							198.0	169.0	179.0					14																	58785293		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58785293G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.308G>A	14.37:g.58785293G>A	ENSP00000347602:p.Arg103His					ARID4A_ENST00000348476.3_Missense_Mutation_p.R103H|ARID4A_ENST00000431317.2_Missense_Mutation_p.R103H|ARID4A_ENST00000395168.3_Missense_Mutation_p.R103H	p.R103H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			6	681	+			103					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.308G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	36	5.735825	0.96865	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.78	5.78	0.91487	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75323	-0.3358	10	0.87932	D	0	-8.527	20.0079	0.97439	0.0:0.0:1.0:0.0	.	103;103;103	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	H	103;103;103;66;103	ENSP00000347602:R103H;ENSP00000344556:R103H;ENSP00000378597:R103H;ENSP00000392567:R66H;ENSP00000397368:R103H	ENSP00000344556:R103H	R	+	2	0	ARID4A	57855046	1.000000	0.71417	0.965000	0.40720	0.989000	0.77384	9.624000	0.98398	2.722000	0.93159	0.655000	0.94253	CGT		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		23	41	0	0	0	1	0	23	41				
SLC3A1	6519	broad.mit.edu	37	2	44503055	44503055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44503055C>A	ENST00000260649.6	+	1	457	c.381C>A	c.(379-381)taC>taA	p.Y127*	SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000410056.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.Y127*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	127					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.Y127*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACCAGATCTACCCAAGGTCTT	0.527																																						ENST00000260649.6																			1	Substitution - Nonsense(1)	p.Y127*(1)	large_intestine(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(379-381)taC>taA		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)																																			SO:0001587	stop_gained	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44503055C>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.381C>A	2.37:g.44503055C>A	ENSP00000260649:p.Tyr127*					SLC3A1_ENST00000410056.3_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.Y127*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.Y127*	p.Y127*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			1	457	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	127					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Nonsense_Mutation	SNP	ENST00000260649.6	37	c.381C>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365127	0.97507	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5929	12.2436	0.54558	0.0:0.8775:0.0:0.1225	.	.	.	.	X	127;127;63;127;127;127;127	.	ENSP00000260649:Y127X	Y	+	3	2	SLC3A1	44356559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.950000	0.29122	2.566000	0.86566	0.655000	0.94253	TAC		0.527	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		20	29	1	0	1.22574e-08	1	1.29596e-08	20	29				
IFFO1	25900	broad.mit.edu	37	12	6657293	6657293	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6657293C>T	ENST00000396840.2	-	7	1422	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	IFFO1_ENST00000336604.4_Missense_Mutation_p.D464N|IFFO1_ENST00000465801.1_Missense_Mutation_p.D157N|IFFO1_ENST00000436152.2_Missense_Mutation_p.D158N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D465N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	461						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GACTCCGTATCTTTAATCACC	0.572																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(472-474)Gat>Aat		intermediate filament family orphan 1							162.0	175.0	171.0					12																	6657293		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6657293C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1381G>A	12.37:g.6657293C>T	ENSP00000380052:p.Asp461Asn					IFFO1_ENST00000465801.1_Missense_Mutation_p.D157N|IFFO1_ENST00000336604.4_Missense_Mutation_p.D464N|IFFO1_ENST00000356896.4_Missense_Mutation_p.D465N|IFFO1_ENST00000396840.2_Missense_Mutation_p.D461N	p.D158N			Q0D2I5	IFFO1_HUMAN			9	1031	-			461					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.197621	0.94997	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.948;0.998;0.998;0.998;0.987	T	0.29212	-1.0019	10	0.87932	D	0	-12.1046	18.2455	0.89984	0.0:1.0:0.0:0.0	.	464;157;464;461;465;166	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;.;IFFO1_HUMAN;.;.	N	158;157;464;461;465;101	ENSP00000390721:D158N;ENSP00000436261:D157N;ENSP00000337593:D464N;ENSP00000380052:D461N;ENSP00000349364:D465N	ENSP00000337593:D464N	D	-	1	0	IFFO1	6527554	1.000000	0.71417	0.921000	0.36526	0.899000	0.52679	7.754000	0.85163	2.311000	0.77944	0.655000	0.94253	GAT		0.572	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		63	109	0	0	0	1	0	63	109				
LLGL1	3996	broad.mit.edu	37	17	18139975	18139975	+	Silent	SNP	G	G	A	rs137941953	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18139975G>A	ENST00000316843.4	+	12	1503	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	469					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCTGCGGCCGCTCTATAAGC	0.662																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1405-1407)ccG>ccA		lethal giant larvae homolog 1 (Drosophila)		G		0,4406		0,0,2203	48.0	46.0	47.0		1407	-11.8	0.0	17	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LLGL1	NM_004140.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		469/1065	18139975	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18139975G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1407G>A	17.37:g.18139975G>A							p.P469P	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			12	1503	+	all_neural(463;0.228)		469					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.1407G>A	CCDS32586.1																																																																																				0.662	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			15	13	0	0	0	1	0	15	13				
TSG101	7251	broad.mit.edu	37	11	18502173	18502173	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18502173G>T	ENST00000251968.3	-	10	1508	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TSG101_ENST00000536719.1_Intron|TSG101_ENST00000357193.3_Missense_Mutation_p.L260I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	365	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CGGGACAGAAGACGTACATGC	0.443																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000251968.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1093-1095)Ctt>Att		tumor susceptibility 101							85.0	80.0	82.0					11																	18502173		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18502173G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1093C>A	11.37:g.18502173G>T	ENSP00000251968:p.Leu365Ile					TSG101_ENST00000536719.1_Intron|TSG101_ENST00000357193.3_Missense_Mutation_p.L260I	p.L365I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN			10	1508	-			365			SB.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.1093C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712231	0.68730	.	.	ENSG00000074319	ENST00000251968;ENST00000357193	T;T	0.44482	0.94;0.92	5.78	3.89	0.44902	Steadiness box (2);	0.063718	0.64402	D	0.000004	T	0.36331	0.0963	N	0.17474	0.49	0.48762	D	0.999704	P	0.48089	0.905	P	0.48952	0.596	T	0.10405	-1.0631	10	0.37606	T	0.19	-4.3973	14.9151	0.70789	0.0:0.2885:0.7115:0.0	.	365	Q99816	TS101_HUMAN	I	365;260	ENSP00000251968:L365I;ENSP00000349721:L260I	ENSP00000251968:L365I	L	-	1	0	TSG101	18458749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	0.763000	0.33175	0.655000	0.94253	CTT		0.443	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		7	27	1	0	0.00198382	1	0.0020125	7	27				
UBA2	10054	broad.mit.edu	37	19	34942995	34942995	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34942995G>A	ENST00000246548.4	+	10	1051	c.981G>A	c.(979-981)gaG>gaA	p.E327E	UBA2_ENST00000439527.2_Silent_p.E231E	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	327					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGAGCATCGAGACTTTGAGAG	0.428																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(691-693)gaG>gaA		ubiquitin-like modifier activating enzyme 2							168.0	163.0	165.0					19																	34942995		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34942995G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.981G>A	19.37:g.34942995G>A						UBA2_ENST00000246548.4_Silent_p.E327E	p.E231E			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		10	1191	+	Esophageal squamous(110;0.162)		327					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.693G>A	CCDS12439.1																																																																																				0.428	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		34	62	0	0	0	1	0	34	62				
SLC15A2	6565	broad.mit.edu	37	3	121630452	121630452	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121630452C>T	ENST00000489711.1	+	4	755	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	123					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGTGTATGTGCTTGGCCATGT	0.413																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(367-369)Ctt>Ttt		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						207.0	166.0	180.0					3																	121630452		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121630452C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.367C>T	3.37:g.121630452C>T	ENSP00000417085:p.Leu123Phe					SLC15A2_ENST00000295605.2_Intron	p.L123F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	4	755	+			123					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.367C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526395	0.44969	.	.	ENSG00000163406	ENST00000489711;ENST00000469013	T;T	0.05855	3.38;3.38	5.31	4.43	0.53597	Major facilitator superfamily domain, general substrate transporter (1);PTR2 family proton/oligopeptide symporter, conserved site (1);	0.353130	0.30428	N	0.009648	T	0.09379	0.0231	L	0.45698	1.435	0.80722	D	1	B	0.32800	0.385	B	0.43194	0.411	T	0.17018	-1.0383	10	0.41790	T	0.15	-13.499	6.6567	0.22990	0.1766:0.7348:0.0:0.0886	.	123	Q16348	S15A2_HUMAN	F	123;61	ENSP00000417085:L123F;ENSP00000418704:L61F	ENSP00000418704:L61F	L	+	1	0	SLC15A2	123113142	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.175000	0.42491	1.469000	0.48083	0.655000	0.94253	CTT		0.413	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		5	26	0	0	0	1	0	5	26				
ANKAR	150709	broad.mit.edu	37	2	190569831	190569831	+	Silent	SNP	G	G	A	rs555194963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190569831G>A	ENST00000520309.1	+	8	1879	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	ANKAR_ENST00000313581.4_Silent_p.T597T|ANKAR_ENST00000438402.2_Silent_p.T597T|ANKAR_ENST00000431575.2_Silent_p.T526T|ANKAR_ENST00000281412.6_Silent_p.T361T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	597						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGATTACACGCTTTCTGAAA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		14771	0.0		0.001	False		,,,				2504	0.0					ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1789-1791)acG>acA		ankyrin and armadillo repeat containing							164.0	146.0	152.0					2																	190569831		2203	4300	6503	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190569831G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1791G>A	2.37:g.190569831G>A						ANKAR_ENST00000438402.2_Silent_p.T597T|ANKAR_ENST00000281412.6_Silent_p.T361T|ANKAR_ENST00000431575.2_Silent_p.T526T|ANKAR_ENST00000313581.4_Silent_p.T597T	p.T597T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1879	+			597					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1791G>A	CCDS33351.2																																																																																				0.438	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		37	72	0	0	0	1	0	37	72				
ZNF530	348327	broad.mit.edu	37	19	58117342	58117342	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58117342G>A	ENST00000332854.6	+	3	669	c.449G>A	c.(448-450)gGg>gAg	p.G150E	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGTGGATGGGGACCAGGCC	0.473																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(448-450)gGg>gAg		zinc finger protein 530							57.0	57.0	57.0					19																	58117342		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117342G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.449G>A	19.37:g.58117342G>A	ENSP00000332861:p.Gly150Glu					ZNF530_ENST00000597864.1_Intron	p.G150E	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	669	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	150					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.449G>A	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.214210	0.01555	.	.	ENSG00000183647	ENST00000332854	T	0.01438	4.89	2.01	-0.234	0.13074	.	.	.	.	.	T	0.00384	0.0012	N	0.00272	-1.73	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45745	-0.9240	9	0.02654	T	1	.	2.5347	0.04711	0.0:0.1889:0.3063:0.5048	.	150	Q6P9A1	ZN530_HUMAN	E	150	ENSP00000332861:G150E	ENSP00000332861:G150E	G	+	2	0	ZNF530	62809154	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.376000	0.07465	-0.114000	0.11936	-0.578000	0.04140	GGG		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		6	49	0	0	0	1	0	6	49				
FRAS1	80144	broad.mit.edu	37	4	79240097	79240097	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:79240097G>A	ENST00000325942.6	+	18	2534	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	FRAS1_ENST00000264899.6_Silent_p.Q698Q|FRAS1_ENST00000264895.6_Silent_p.Q698Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	698					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTCTAGCCCAGTGTAGAGCCC	0.522																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2092-2094)caG>caA		Fraser syndrome 1							150.0	150.0	150.0					4																	79240097		1943	4156	6099	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79240097G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2094G>A	4.37:g.79240097G>A						FRAS1_ENST00000325942.6_Silent_p.Q698Q|FRAS1_ENST00000264899.6_Silent_p.Q698Q	p.Q698Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			18	2534	+			698					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.2094G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.018|0.018	-1.482745|-1.482745	0.01027|0.01027	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.93|5.93	-0.192|-0.192	0.13248|0.13248	.|.	.|.	.|.	.|.	.|.	T|T	0.40932|0.40932	0.1137|0.1137	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21690|0.21690	-1.0238|-1.0238	4|4	.|.	.|.	.|.	.|.	0.9926|0.9926	0.01460|0.01460	0.1999:0.2272:0.3401:0.2329|0.1999:0.2272:0.3401:0.2329	.|.	.|.	.|.	.|.	N|M	627|541	.|.	.|.	S|V	+|+	2|1	0|0	FRAS1|FRAS1	79459121|79459121	0.091000|0.091000	0.21658|0.21658	0.010000|0.010000	0.14722|0.14722	0.007000|0.007000	0.05969|0.05969	0.139000|0.139000	0.16036|0.16036	-0.394000|-0.394000	0.07727|0.07727	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			58	75	0	0	0	1	0	58	75				
MAP3K3	4215	broad.mit.edu	37	17	61769176	61769176	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61769176C>T	ENST00000361733.3	+	14	1748	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	MAP3K3_ENST00000579585.1_Silent_p.G507G|MAP3K3_ENST00000361357.3_Silent_p.G507G|MAP3K3_ENST00000584573.1_Silent_p.G503G|MAP3K3_ENST00000577395.1_Silent_p.G472G	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCCTGGAGGGCATGTCCTACC	0.562																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1519-1521)ggC>ggT		mitogen-activated protein kinase kinase kinase 3							166.0	153.0	158.0					17																	61769176		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61769176C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1428C>T	17.37:g.61769176C>T						MAP3K3_ENST00000579585.1_Silent_p.G507G|MAP3K3_ENST00000361733.3_Silent_p.G476G|MAP3K3_ENST00000577395.1_Silent_p.G472G|MAP3K3_ENST00000584573.1_Silent_p.G503G	p.G507G	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			15	1839	+			476			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.1521C>T	CCDS32702.1																																																																																				0.562	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		45	54	0	0	0	1	0	45	54				
NCF4	4689	broad.mit.edu	37	22	37261022	37261022	+	Missense_Mutation	SNP	G	G	A	rs369847561		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37261022G>A	ENST00000248899.6	+	3	363	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.R60H	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	60	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol 3-phosphate binding.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CGCCGCTACCGCCAGTTCCAT	0.602																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(178-180)cGc>cAc		neutrophil cytosolic factor 4, 40kDa		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	76.0	81.0		179,179	5.7	1.0	22		81	0,8600		0,0,4300	no	missense,missense	NCF4	NM_000631.4,NM_013416.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	60/340,60/349	37261022	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37261022G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.179G>A	22.37:g.37261022G>A	ENSP00000248899:p.Arg60His					NCF4_ENST00000248899.6_Missense_Mutation_p.R60H|CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA	p.R60H	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			3	363	+			60			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.179G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107384	0.94292	2.27E-4	0.0	ENSG00000100365	ENST00000248899;ENST00000397147	T;T	0.45668	0.89;0.89	5.67	5.67	0.87782	Phox homologous domain (5);	0.053596	0.64402	D	0.000001	T	0.65626	0.2709	M	0.70275	2.135	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.66646	-0.5871	10	0.62326	D	0.03	-25.8801	18.5343	0.91004	0.0:0.0:1.0:0.0	.	60;60	A8K4F9;Q15080	.;NCF4_HUMAN	H	60	ENSP00000248899:R60H;ENSP00000380334:R60H	ENSP00000248899:R60H	R	+	2	0	NCF4	35590968	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.375000	0.90135	2.666000	0.90696	0.561000	0.74099	CGC		0.602	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		31	45	0	0	0	1	0	31	45				
PKN3	29941	broad.mit.edu	37	9	131482247	131482247	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131482247C>T	ENST00000291906.4	+	20	2720	c.2327C>T	c.(2326-2328)gCc>gTc	p.A776V	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACATGGACGCCCCCTACCCC	0.627																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2326-2328)gCc>gTc		protein kinase N3							95.0	104.0	101.0					9																	131482247		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482247C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2327C>T	9.37:g.131482247C>T	ENSP00000291906:p.Ala776Val					PKN3_ENST00000485301.1_3'UTR	p.A776V	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			20	2720	+			776			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2327C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.211519	0.01555	.	.	ENSG00000160447	ENST00000291906	T	0.63744	-0.06	5.35	3.48	0.39840	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.22898	0.0553	N	0.00554	-1.385	0.25910	N	0.983245	B	0.10296	0.003	B	0.14578	0.011	T	0.31475	-0.9942	9	0.02654	T	1	.	6.8293	0.23900	0.0:0.708:0.0:0.292	.	776	Q6P5Z2	PKN3_HUMAN	V	776	ENSP00000291906:A776V	ENSP00000291906:A776V	A	+	2	0	PKN3	130522068	0.957000	0.32711	0.063000	0.19743	0.014000	0.08584	1.754000	0.38369	0.619000	0.30197	0.462000	0.41574	GCC		0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		41	46	0	0	0	1	0	41	46				
RBPMS	11030	broad.mit.edu	37	8	30416412	30416412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30416412G>A	ENST00000320203.4	+	7	1119	c.537G>A	c.(535-537)tgG>tgA	p.W179*	RBPMS_ENST00000287771.5_3'UTR|RBPMS_ENST00000397323.4_Nonsense_Mutation_p.W179*|RBPMS_ENST00000538486.1_Nonsense_Mutation_p.W136*	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	179					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AGATGCGCTGGCTCCCTCCCT	0.562																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(535-537)tgG>tgA		RNA binding protein with multiple splicing							119.0	106.0	110.0					8																	30416412		2203	4300	6503	SO:0001587	stop_gained	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30416412G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.537G>A	8.37:g.30416412G>A	ENSP00000318102:p.Trp179*					RBPMS_ENST00000538486.1_Nonsense_Mutation_p.W136*|RBPMS_ENST00000287771.5_3'UTR|RBPMS_ENST00000397323.4_Nonsense_Mutation_p.W179*	p.W179*	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	7	1119	+			179					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Nonsense_Mutation	SNP	ENST00000320203.4	37	c.537G>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	G	44	10.704931	0.99453	.	.	ENSG00000157110	ENST00000538486;ENST00000397323;ENST00000320203	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4473	0.87581	0.0:0.0:1.0:0.0	.	.	.	.	X	136;179;179	.	ENSP00000318102:W179X	W	+	3	0	RBPMS	30535954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.132000	0.77251	2.710000	0.92621	0.557000	0.71058	TGG		0.562	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			27	34	0	0	0	1	0	27	34				
STAB1	23166	broad.mit.edu	37	3	52544490	52544490	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52544490C>T	ENST00000321725.6	+	25	2830	c.2754C>T	c.(2752-2754)acC>acT	p.T918T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	918	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGCCACACCGATGCCCTCT	0.637																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2752-2754)acC>acT		stabilin 1							59.0	53.0	55.0					3																	52544490		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544490C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2754C>T	3.37:g.52544490C>T							p.T918T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	25	2830	+			918			EGF-like 8.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2754C>T	CCDS33768.1																																																																																				0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		12	14	0	0	0	1	0	12	14				
NCKAP5	344148	broad.mit.edu	37	2	133489410	133489410	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:133489410G>T	ENST00000409261.1	-	17	5716	c.5343C>A	c.(5341-5343)cgC>cgA	p.R1781R	NCKAP5_ENST00000405974.3_Silent_p.R462R|NCKAP5_ENST00000409213.1_Silent_p.R462R|NCKAP5_ENST00000317721.6_Silent_p.R1781R|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1781										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATCTGCAGGGCGCTGGCCGT	0.587																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5341-5343)cgC>cgA		NCK-associated protein 5							87.0	91.0	90.0					2																	133489410		2053	4192	6245	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133489410G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5343C>A	2.37:g.133489410G>T						NCKAP5_ENST00000409213.1_Silent_p.R462R|NCKAP5_ENST00000405974.3_Silent_p.R462R|NCKAP5_ENST00000317721.6_Silent_p.R1781R	p.R1781R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5716	-			1781					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.5343C>A	CCDS46418.1																																																																																				0.587	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		9	64	1	0	2.74318e-10	1	2.93027e-10	9	64				
PSMB3	5691	broad.mit.edu	37	17	36918703	36918703	+	Missense_Mutation	SNP	C	C	A	rs1804235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36918703C>A	ENST00000225426.4	+	5	605	c.514C>A	c.(514-516)Ctg>Atg	p.L172M		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	172					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						CCAAGCCATGCTGAATGCTGT	0.542																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(514-516)Ctg>Atg		proteasome (prosome, macropain) subunit, beta type, 3							165.0	146.0	152.0					17																	36918703		2203	4300	6503	SO:0001583	missense	5691				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr17:36918703C>A	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.514C>A	17.37:g.36918703C>A	ENSP00000225426:p.Leu172Met						p.L172M	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			5	605	+			172					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.514C>A	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159564	0.94686	.	.	ENSG00000108294	ENST00000225426	T	0.23754	1.89	5.45	4.48	0.54585	.	0.000000	0.64402	D	0.000001	T	0.37945	0.1022	M	0.64404	1.975	0.58432	D	0.999998	P	0.39883	0.693	P	0.51193	0.662	T	0.11372	-1.0590	10	0.44086	T	0.13	.	10.1122	0.42570	0.0:0.8371:0.0:0.1629	rs1804235	172	P49720	PSB3_HUMAN	M	172	ENSP00000225426:L172M	ENSP00000225426:L172M	L	+	1	2	PSMB3	34172229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.000000	0.57039	1.321000	0.45227	0.563000	0.77884	CTG		0.542	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		4	52	1	0	0.00024832	1	0.000253518	4	52				
SLC9A8	23315	broad.mit.edu	37	20	48472001	48472001	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:48472001C>T	ENST00000361573.2	+	8	638	c.596C>T	c.(595-597)gCt>gTt	p.A199V	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.A215V|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	199					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CTAATATCTGCTGTCGATCCA	0.448																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(643-645)gCt>gTt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							209.0	190.0	196.0					20																	48472001		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48472001C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.596C>T	20.37:g.48472001C>T	ENSP00000354966:p.Ala199Val					SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000361573.2_Missense_Mutation_p.A199V|SLC9A8_ENST00000539601.1_5'UTR	p.A215V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		8	854	+			199					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.644C>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404842	0.83230	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.18338	2.22;2.22	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77539	-0.2550	10	0.87932	D	0	.	19.2019	0.93714	0.0:1.0:0.0:0.0	.	199	Q9Y2E8	SL9A8_HUMAN	V	215;199	ENSP00000416418:A215V;ENSP00000354966:A199V	ENSP00000354966:A199V	A	+	2	0	SLC9A8	47905408	1.000000	0.71417	0.966000	0.40874	0.196000	0.23810	7.652000	0.83633	2.598000	0.87819	0.650000	0.86243	GCT		0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		36	60	0	0	0	1	0	36	60				
SYMPK	8189	broad.mit.edu	37	19	46331150	46331150	+	Missense_Mutation	SNP	G	G	A	rs536424856		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46331150G>A	ENST00000245934.7	-	15	2256	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATGAGTGGCGCCTCCAGCAC	0.647																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2011-2013)gCg>gTg		symplekin							93.0	91.0	92.0					19																	46331150		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46331150G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2012C>T	19.37:g.46331150G>A	ENSP00000245934:p.Ala671Val						p.A671V	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	15	2256	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	671					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2012C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082074	0.76528	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.46	5.46	0.80206	Armadillo-type fold (1);	0.118801	0.56097	D	0.000025	T	0.41696	0.1170	L	0.41236	1.265	0.80722	D	1	D;B	0.55605	0.972;0.072	B;B	0.34301	0.179;0.027	T	0.51568	-0.8689	9	0.62326	D	0.03	.	16.8671	0.86032	0.0:0.0:1.0:0.0	.	686;671	Q4LE61;Q92797	.;SYMPK_HUMAN	V	671	.	ENSP00000245934:A671V	A	-	2	0	SYMPK	51022990	1.000000	0.71417	0.958000	0.39756	0.955000	0.61496	9.444000	0.97578	2.591000	0.87537	0.650000	0.86243	GCG		0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		38	68	0	0	0	1	0	38	68				
PTGER4	5734	broad.mit.edu	37	5	40681751	40681751	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40681751G>A	ENST00000302472.3	+	2	1680	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	219					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CAGTTCATGCGCCGCACCTCG	0.711																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(655-657)cGc>cAc		prostaglandin E receptor 4 (subtype EP4)							11.0	11.0	11.0					5																	40681751		2184	4257	6441	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681751G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.656G>A	5.37:g.40681751G>A	ENSP00000302846:p.Arg219His					PTGER4_ENST00000514343.1_3'UTR	p.R219H	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1680	+			219					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.656G>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888326	0.97068	.	.	ENSG00000171522	ENST00000302472	T	0.73575	-0.76	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86997	0.6068	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87981	0.2743	10	0.56958	D	0.05	-26.8177	18.8547	0.92247	0.0:0.0:1.0:0.0	.	219	P35408	PE2R4_HUMAN	H	219	ENSP00000302846:R219H	ENSP00000302846:R219H	R	+	2	0	PTGER4	40717508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.459000	0.83118	0.561000	0.74099	CGC		0.711	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		9	3	0	0	0	1	0	9	3				
USP12	219333	broad.mit.edu	37	13	27669938	27669938	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:27669938C>T	ENST00000282344.6	-	4	629	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	125	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AATTCATGGGCATCTTGTTGC	0.264																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(373-375)Gcc>Acc		ubiquitin specific peptidase 12							44.0	46.0	45.0					13																	27669938		2203	4296	6499	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27669938C>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.373G>A	13.37:g.27669938C>T	ENSP00000282344:p.Ala125Thr						p.A125T	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	4	629	-		Lung SC(185;0.0161)	125					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.373G>A	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278315	0.95459	.	.	ENSG00000152484	ENST00000282344	T	0.11604	2.76	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046603	0.85682	D	0.000000	T	0.44644	0.1303	M	0.92738	3.34	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	T	0.55121	-0.8190	10	0.72032	D	0.01	-7.9781	19.8379	0.96666	0.0:1.0:0.0:0.0	.	125	O75317	UBP12_HUMAN	T	125	ENSP00000282344:A125T	ENSP00000282344:A125T	A	-	1	0	USP12	26567938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.689000	0.84165	2.765000	0.95021	0.655000	0.94253	GCC		0.264	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		8	25	0	0	0	1	0	8	25				
ERAL1	26284	broad.mit.edu	37	17	27187545	27187545	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27187545C>T	ENST00000254928.5	+	10	1385	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	430	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TGTTGACATCCGCCTCTCTGT	0.562																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(1288-1290)Cgc>Tgc		Era-like 12S mitochondrial rRNA chaperone 1							166.0	129.0	141.0					17																	27187545		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27187545C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1288C>T	17.37:g.27187545C>T	ENSP00000254928:p.Arg430Cys						p.R430C	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		10	1385	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		430			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.1288C>T	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876862	0.51801	.	.	ENSG00000132591	ENST00000254928	.	.	.	6.07	5.1	0.69264	K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);	0.260360	0.42548	D	0.000681	T	0.62696	0.2449	M	0.81802	2.56	0.49130	D	0.999753	D	0.55800	0.973	B	0.43536	0.423	T	0.71126	-0.4683	9	0.87932	D	0	-8.8208	13.9713	0.64242	0.0:0.9272:0.0:0.0728	.	430	O75616	ERAL1_HUMAN	C	430	.	ENSP00000254928:R430C	R	+	1	0	ERAL1	24211671	0.997000	0.39634	0.177000	0.23020	0.042000	0.13812	3.616000	0.54174	1.578000	0.49821	0.655000	0.94253	CGC		0.562	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			28	45	0	0	0	1	0	28	45				
TSACC	128229	broad.mit.edu	37	1	156316633	156316633	+	Missense_Mutation	SNP	G	G	A	rs202203827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156316633G>A	ENST00000368255.3	+	4	598	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	TSACC_ENST00000466306.1_Missense_Mutation_p.R76H|TSACC_ENST00000470342.1_Missense_Mutation_p.R76H|TSACC_ENST00000368253.2_Missense_Mutation_p.A80T|TSACC_ENST00000368254.1_Missense_Mutation_p.A80T|TSACC_ENST00000481479.1_Missense_Mutation_p.R76H|TSACC_ENST00000368252.1_Missense_Mutation_p.A80T|TSACC_ENST00000368251.1_Missense_Mutation_p.A80T	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	80						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										GACCCAGCTCGCCCAACAACA	0.507													g|||	1	0.000199681	0.0	0.0	5008	,	,		19758	0.001		0.0	False		,,,				2504	0.0					ENST00000368255.3																			0											c.(238-240)Gcc>Acc		TSSK6 activating co-chaperone							165.0	165.0	165.0					1																	156316633		2203	4300	6503	SO:0001583	missense	128229							g.chr1:156316633G>A	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.238G>A	1.37:g.156316633G>A	ENSP00000357238:p.Ala80Thr					TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368254.1_Missense_Mutation_p.A80T|TSACC_ENST00000368251.1_Missense_Mutation_p.A80T|TSACC_ENST00000368253.1_Missense_Mutation_p.A80T|TSACC_ENST00000368252.1_Missense_Mutation_p.A80T	p.A80T	NM_144627.3	NP_653228.1					4	598	+								D3DVB9	Missense_Mutation	SNP	ENST00000368255.3	37	c.238G>A	CCDS1141.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	16.60	3.169648	0.57584	.	.	ENSG00000163467	ENST00000368255;ENST00000368254;ENST00000368253;ENST00000368252;ENST00000368251	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.41	3.51	0.40186	.	0.264036	0.27076	N	0.021050	T	0.41419	0.1158	L	0.32530	0.975	0.09310	N	1	D	0.61080	0.989	P	0.53988	0.739	T	0.29458	-1.0011	10	0.87932	D	0	-0.4855	10.2511	0.43370	0.1734:0.0:0.8266:0.0	.	80	Q96A04	CA182_HUMAN	T	80	ENSP00000357238:A80T;ENSP00000357237:A80T;ENSP00000357236:A80T;ENSP00000357235:A80T;ENSP00000357234:A80T	ENSP00000357234:A80T	A	+	1	0	C1orf182	154583257	0.000000	0.05858	0.025000	0.17156	0.778000	0.44026	0.340000	0.19892	0.865000	0.35603	-0.713000	0.03633	GCC		0.507	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		73	89	0	0	0	1	0	73	89				
MLLT4	4301	broad.mit.edu	37	6	168314939	168314939	+	Missense_Mutation	SNP	G	G	A	rs149079362	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168314939G>A	ENST00000447894.2	+	16	2129	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.R709Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.R710Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.R710Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.R710Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.R694Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.R717Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	710	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GACCTTAGTCGGATCACACTG	0.403			T	MLL	AL								G|||	7	0.00139776	0.0038	0.0	5008	,	,		18059	0.0		0.002	False		,,,				2504	0.0					ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2128-2130)cGg>cAg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4		G	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	90.0	84.0	86.0		2129,2081	6.1	0.6	6	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	43,43	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	possibly-damaging,possibly-damaging	710/1652,694/1744	168314939	11,12995	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168314939G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2129G>A	6.37:g.168314939G>A	ENSP00000404595:p.Arg710Gln					MLLT4_ENST00000344191.4_Missense_Mutation_p.R710Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.R717Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.R694Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.R710Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.R710Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.R709Q	p.R710Q			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	16	2271	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	710			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2129G>A		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	0	0.0	2	0.002638522427440633	G	23.1	4.377960	0.82682	6.81E-4	9.3E-4	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04758	3.77;3.67;3.77;3.76;3.56;3.67;3.66	6.07	6.07	0.98685	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	L	0.28115	0.83	0.80722	D	1	P;D;D;P	0.67145	0.771;0.991;0.996;0.85	B;P;P;B	0.62649	0.222;0.905;0.852;0.25	T	0.55566	-0.8121	10	0.16420	T	0.52	-23.6197	20.6525	0.99598	0.0:0.0:1.0:0.0	.	710;709;710;694	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	710;717;710;710;694;710;709;710	ENSP00000341118:R710Q;ENSP00000252692:R717Q;ENSP00000375956:R710Q;ENSP00000355771:R710Q;ENSP00000375960:R694Q;ENSP00000383623:R709Q;ENSP00000404595:R710Q	ENSP00000345834:R710Q	R	+	2	0	MLLT4	168057788	1.000000	0.71417	0.646000	0.29493	0.991000	0.79684	7.682000	0.84083	2.890000	0.99128	0.585000	0.79938	CGG		0.403	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		15	33	0	0	0	1	0	15	33				
WDR82	80335	broad.mit.edu	37	3	52293788	52293788	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52293788C>T	ENST00000296490.3	-	6	925	c.644G>A	c.(643-645)gGc>gAc	p.G215D		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	215					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		AATGAAGCTGCCGTTGGTGGA	0.463																																						ENST00000296490.3																			0											c.(643-645)gGc>gAc		WD repeat domain 82							226.0	216.0	220.0					3																	52293788		2001	4177	6178	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52293788C>T	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.644G>A	3.37:g.52293788C>T	ENSP00000296490:p.Gly215Asp						p.G215D	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	6	925	-			215					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.644G>A	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397398	0.83120	.	.	ENSG00000164091	ENST00000296490	T	0.06142	3.34	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	L	0.56396	1.775	0.80722	D	1	P	0.45078	0.85	B	0.42163	0.378	T	0.12630	-1.0540	10	0.02654	T	1	-30.366	20.4574	0.99148	0.0:1.0:0.0:0.0	.	215	Q6UXN9	WDR82_HUMAN	D	215	ENSP00000296490:G215D	ENSP00000296490:G215D	G	-	2	0	WDR82	52268828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.616000	0.83018	2.843000	0.97960	0.591000	0.81541	GGC		0.463	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		80	124	0	0	0	1	0	80	124				
SPECC1	92521	broad.mit.edu	37	17	20108894	20108894	+	Missense_Mutation	SNP	G	G	A	rs572226219	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:20108894G>A	ENST00000261503.5	+	4	1583	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.R430H|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.R430H|SPECC1_ENST00000395527.4_Missense_Mutation_p.R511H|SPECC1_ENST00000395530.2_Missense_Mutation_p.R430H|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.R511H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	511					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATGATTAAACGTCTGAAGGAA	0.398													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		20369	0.0		0.0	False		,,,				2504	0.0					ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1288-1290)cGt>cAt		sperm antigen with calponin homology and coiled-coil domains 1							66.0	70.0	68.0					17																	20108894		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108894G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1532G>A	17.37:g.20108894G>A	ENSP00000261503:p.Arg511His					SPECC1_ENST00000395522.2_Missense_Mutation_p.R430H|SPECC1_ENST00000395529.3_Missense_Mutation_p.R511H|SPECC1_ENST00000395525.3_Missense_Mutation_p.R430H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.R511H|SPECC1_ENST00000395527.4_Missense_Mutation_p.R511H|SPECC1_ENST00000536879.1_Intron	p.R430H	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1497	+			511					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1289G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	g	5.839	0.339041	0.11069	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.64085	-0.08;2.91;2.9;3.3;2.9	5.59	-4.7	0.03288	.	0.895994	0.10268	N	0.695195	T	0.26304	0.0642	N	0.01482	-0.84	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.001;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.27673	-1.0067	10	0.18710	T	0.47	0.0838	7.8413	0.29400	0.4209:0.0:0.4698:0.1093	.	511;430;430;511;511	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	H	511;511;511;430;430;430	ENSP00000261503:R511H;ENSP00000378900:R511H;ENSP00000378893:R430H;ENSP00000378898:R430H;ENSP00000378896:R430H	ENSP00000261503:R511H	R	+	2	0	SPECC1	20049486	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	0.123000	0.15708	-0.625000	0.05604	-0.119000	0.15052	CGT		0.398	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		22	32	0	0	0	1	0	22	32				
RASAL1	8437	broad.mit.edu	37	12	113565671	113565671	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113565671C>T	ENST00000261729.5	-	5	559	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RASAL1_ENST00000546530.1_Missense_Mutation_p.D82N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.D82N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D82N			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	82	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCGATGATGTCGTCGTGCCTG	0.672																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(244-246)Gac>Aac		RAS protein activator like 1 (GAP1 like)							68.0	62.0	64.0					12																	113565671		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565671C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.244G>A	12.37:g.113565671C>T	ENSP00000261729:p.Asp82Asn					RASAL1_ENST00000548055.1_Missense_Mutation_p.D82N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D82N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.D82N	p.D82N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			5	529	-			82			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.244G>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002789	0.74932	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88093	0.6344	H	0.95745	3.715	0.41077	D	0.98549	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.994;0.985;0.989;0.994;0.996;0.998;0.989	D	0.89608	0.3839	10	0.36615	T	0.2	.	15.4596	0.75342	0.0:1.0:0.0:0.0	.	82;82;82;94;82;82;82	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	N	82	ENSP00000450244:D82N;ENSP00000261729:D82N;ENSP00000395920:D82N;ENSP00000448510:D82N	ENSP00000261729:D82N	D	-	1	0	RASAL1	112050054	1.000000	0.71417	0.641000	0.29422	0.328000	0.28507	6.204000	0.72143	2.519000	0.84933	0.643000	0.83706	GAC		0.672	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		27	33	0	0	0	1	0	27	33				
BRSK1	84446	broad.mit.edu	37	19	55814226	55814226	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55814226G>A	ENST00000309383.1	+	10	1296	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	BRSK1_ENST00000585418.1_Missense_Mutation_p.R340H|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35H|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R340H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGCGAGCTGCGCAGTGAGGAG	0.662																																						ENST00000309383.1																			2	Substitution - Missense(2)	p.R340H(2)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1018-1020)cGc>cAc		BR serine/threonine kinase 1							55.0	43.0	47.0					19																	55814226		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814226G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1019G>A	19.37:g.55814226G>A	ENSP00000310649:p.Arg340His					BRSK1_ENST00000326848.7_Missense_Mutation_p.R35H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340H|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356H	p.R340H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1296	+		Renal(1328;0.245)	340			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1019G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.880241	0.51801	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71817	-0.6;1.96	4.69	3.57	0.40892	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.60366	0.2263	N	0.08118	0	0.32308	N	0.564093	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.66122	-0.6002	10	0.87932	D	0	.	3.8622	0.09001	0.184:0.0:0.6122:0.2038	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	H	340;35;35	ENSP00000310649:R340H;ENSP00000320853:R35H	ENSP00000310649:R340H	R	+	2	0	BRSK1	60506038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.993000	0.29680	2.345000	0.79718	0.655000	0.94253	CGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		9	27	0	0	0	1	0	9	27				
PSAP	5660	broad.mit.edu	37	10	73574912	73574912	+	IGR	SNP	G	G	A	rs376804660		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73574912G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000224721.6_Silent_p.T3319T|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.T1074T			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CGCTGGAGACGCTGACCGCTG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17312	0.0		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9955-9957)acG>acA		cadherin-related 23		G	,,,,	3,4339		0,3,2168	18.0	26.0	23.0		3222,3117,633,528,9942	-5.1	0.2	10		23	7,8513		0,7,4253	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	,,,,	0,10,6421	AA,AG,GG		0.0822,0.0691,0.0777	,,,,	1074/1115,1039/1080,211/252,176/217,3314/3355	73574912	10,12852	2171	4260	6431	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574912G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574912G>A						CDH23_ENST00000398788.3_Silent_p.T1074T|CDH23_ENST00000475158.1_3'UTR	p.T3319T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	9962	+			3314					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.9957G>A	CCDS7311.1																																																																																				0.662	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		7	5	0	0	0	1	0	7	5				
STAP2	55620	broad.mit.edu	37	19	4327199	4327199	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4327199C>T	ENST00000594605.1	-	8	808	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	STAP2_ENST00000600324.1_Missense_Mutation_p.V229M|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	229	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V229M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTTGACCACGGCGTCCAGG	0.592																																						ENST00000600324.1																			1	Substitution - Missense(1)	p.V229M(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(685-687)Gtg>Atg		signal transducing adaptor family member 2							77.0	74.0	75.0					19																	4327199		2203	4300	6503	SO:0001583	missense	55620					cytoplasm|nucleus	protein binding	g.chr19:4327199C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.685G>A	19.37:g.4327199C>T	ENSP00000471052:p.Val229Met					STAP2_ENST00000594605.1_Missense_Mutation_p.V229M|STAP2_ENST00000597593.1_5'UTR	p.V229M	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	8	752	-		Hepatocellular(1079;0.137)	229			SH2.		A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	c.685G>A	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428795	0.83667	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.09	5.09	0.68999	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.77103	2.36	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81636	-0.0843	9	0.87932	D	0	-4.5277	14.0304	0.64613	0.0:1.0:0.0:0.0	.	229;229	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	M	229	.	ENSP00000317912:V229M	V	-	1	0	STAP2	4278199	0.952000	0.32445	0.861000	0.33841	0.672000	0.39443	3.044000	0.49830	2.377000	0.81083	0.555000	0.69702	GTG		0.592	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		23	30	0	0	0	1	0	23	30				
LRRC3B	116135	broad.mit.edu	37	3	26751371	26751371	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:26751371T>C	ENST00000396641.2	+	2	800	c.208T>C	c.(208-210)Tat>Cat	p.Y70H	LRRC3B_ENST00000417744.1_Missense_Mutation_p.Y70H|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Y70H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	70						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGTCTTACTGTATCTGGACTC	0.408																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(208-210)Tat>Cat		leucine rich repeat containing 3B							92.0	90.0	91.0					3																	26751371		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751371T>C	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.208T>C	3.37:g.26751371T>C	ENSP00000379880:p.Tyr70His					LRRC3B_ENST00000417744.1_Missense_Mutation_p.Y70H|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Y70H	p.Y70H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	800	+			70					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.208T>C	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464453	0.26335	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	6.17	6.17	0.99709	.	0.239678	0.45606	D	0.000355	D	0.84293	0.5440	N	0.26162	0.8	0.43021	D	0.994578	B	0.27013	0.166	B	0.32149	0.141	T	0.81129	-0.1073	10	0.35671	T	0.21	-19.6826	16.0034	0.80327	0.0:0.0:0.0:1.0	.	70	Q96PB8	LRC3B_HUMAN	H	70	ENSP00000379880:Y70H;ENSP00000398184:Y70H;ENSP00000406370:Y70H;ENSP00000394940:Y70H	ENSP00000379880:Y70H	Y	+	1	0	LRRC3B	26726375	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.056000	0.49923	2.371000	0.80710	0.533000	0.62120	TAT		0.408	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		13	59	0	0	0	1	0	13	59				
SLC7A14	57709	broad.mit.edu	37	3	170198432	170198432	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:170198432G>A	ENST00000231706.5	-	7	1954	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	547					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.R547W(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGGCCCAGCCGGATTCTCATG	0.507																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.R547W(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1639-1641)Cgg>Tgg		solute carrier family 7, member 14							97.0	96.0	96.0					3																	170198432		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198432G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1639C>T	3.37:g.170198432G>A	ENSP00000231706:p.Arg547Trp					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.R547W	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1954	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		547					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1639C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105603	0.56291	.	.	ENSG00000013293	ENST00000231706	D	0.88509	-2.39	5.51	5.51	0.81932	.	0.363497	0.31859	N	0.006950	D	0.87501	0.6193	L	0.56769	1.78	0.58432	D	0.999995	P	0.51537	0.946	B	0.40565	0.333	D	0.87203	0.2242	10	0.36615	T	0.2	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	547	Q8TBB6	S7A14_HUMAN	W	547	ENSP00000231706:R547W	ENSP00000231706:R547W	R	-	1	2	SLC7A14	171681126	1.000000	0.71417	0.999000	0.59377	0.556000	0.35491	6.400000	0.73252	2.579000	0.87056	0.591000	0.81541	CGG		0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		33	57	0	0	0	1	0	33	57				
GULP1	51454	broad.mit.edu	37	2	189448999	189448999	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189448999G>A	ENST00000409580.1	+	11	1331	c.617G>A	c.(616-618)aGt>aAt	p.S206N	GULP1_ENST00000409609.1_Missense_Mutation_p.S206N|GULP1_ENST00000409830.1_Missense_Mutation_p.S206N|GULP1_ENST00000409805.1_Missense_Mutation_p.S103N|GULP1_ENST00000359135.3_Missense_Mutation_p.S206N|GULP1_ENST00000409843.1_Missense_Mutation_p.S206N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	206					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAGGCAGGCAGTATGACACCT	0.363																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(616-618)aGt>aAt		GULP, engulfment adaptor PTB domain containing 1							221.0	194.0	203.0					2																	189448999		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189448999G>A	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.617G>A	2.37:g.189448999G>A	ENSP00000386289:p.Ser206Asn					GULP1_ENST00000409805.1_Missense_Mutation_p.S103N|GULP1_ENST00000409609.1_Missense_Mutation_p.S206N|GULP1_ENST00000409843.1_Missense_Mutation_p.S206N|GULP1_ENST00000409830.1_Missense_Mutation_p.S206N|GULP1_ENST00000359135.3_Missense_Mutation_p.S206N	p.S206N			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		11	1331	+			206					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.617G>A	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.474735|2.474735	0.43942|0.43942	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.47177|.	0.85;0.87;0.87;0.87;0.87|.	5.62|5.62	1.79|1.79	0.24919|0.24919	.|.	0.380726|.	0.32578|.	N|.	0.005918|.	T|T	0.42539|0.42539	0.1207|0.1207	L|L	0.58101|0.58101	1.795|1.795	0.28222|0.28222	N|N	0.926489|0.926489	B;B;B;B|.	0.14805|.	0.01;0.011;0.001;0.001|.	B;B;B;B|.	0.14578|.	0.011;0.009;0.001;0.001|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|5	0.16896|.	T|.	0.51|.	-0.772|-0.772	7.0678|7.0678	0.25161|0.25161	0.2084:0.1246:0.667:0.0|0.2084:0.1246:0.667:0.0	.|.	103;30;206;206|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	N|I	206;206;103;206;206;206|31;91	ENSP00000387144:S206N;ENSP00000386732:S206N;ENSP00000352047:S206N;ENSP00000386289:S206N;ENSP00000386867:S206N|.	ENSP00000352047:S206N|.	S|V	+|+	2|1	0|0	GULP1|GULP1	189157244|189157244	1.000000|1.000000	0.71417|0.71417	0.696000|0.696000	0.30242|0.30242	0.889000|0.889000	0.51656|0.51656	1.355000|1.355000	0.34068|0.34068	0.054000|0.054000	0.16065|0.16065	-0.182000|-0.182000	0.12963|0.12963	AGT|GTA		0.363	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		41	74	0	0	0	1	0	41	74				
SDHA	6389	broad.mit.edu	37	5	233681	233681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:233681C>T	ENST00000264932.6	+	8	1100	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SDHA_ENST00000510361.1_Nonsense_Mutation_p.R281*|SDHA_ENST00000504309.1_Nonsense_Mutation_p.R329*	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	329					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTTATGGAGCGATACGCCCC	0.517									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(985-987)Cga>Tga		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						175.0	156.0	162.0					5																	233681		2203	4300	6503	SO:0001587	stop_gained	6389	Familial Paragangliomas	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	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:233681C>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.985C>T	5.37:g.233681C>T	ENSP00000264932:p.Arg329*					SDHA_ENST00000510361.1_Nonsense_Mutation_p.R281*|SDHA_ENST00000504309.1_Nonsense_Mutation_p.R329*	p.R329*	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		8	1100	+			329					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Nonsense_Mutation	SNP	ENST00000264932.6	37	c.985C>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	36	5.943823	0.97128	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.	.	.	4.51	2.29	0.28610	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3943	0.44192	0.715:0.285:0.0:0.0	.	.	.	.	X	329;184;329;281	.	ENSP00000264932:R329X	R	+	1	2	SDHA	286681	1.000000	0.71417	0.972000	0.41901	0.887000	0.51463	2.596000	0.46205	0.282000	0.22254	0.650000	0.86243	CGA		0.517	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		52	69	0	0	0	1	0	52	69				
PTPRE	5791	broad.mit.edu	37	10	129874955	129874955	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129874955C>T	ENST00000254667.3	+	18	1967	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	PTPRE_ENST00000306042.5_Missense_Mutation_p.A505V|PTPRE_ENST00000419012.2_Missense_Mutation_p.A563V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	563	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CTTTCAGAAGCCATCAGTATA	0.428																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1687-1689)gCc>gTc		protein tyrosine phosphatase, receptor type, E							181.0	180.0	180.0					10																	129874955		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129874955C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1688C>T	10.37:g.129874955C>T	ENSP00000254667:p.Ala563Val					PTPRE_ENST00000306042.5_Missense_Mutation_p.A505V|PTPRE_ENST00000419012.2_Missense_Mutation_p.A563V	p.A563V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			18	1967	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	563			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1688C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838203	0.71373	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.11604	2.76;2.76;2.76	5.06	3.1	0.35709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.073153	0.64402	D	0.000019	T	0.10121	0.0248	L	0.33668	1.02	0.80722	D	1	P;B;B;B	0.38078	0.617;0.372;0.125;0.372	B;B;B;B	0.36030	0.085;0.216;0.098;0.216	T	0.06445	-1.0826	10	0.72032	D	0.01	.	14.669	0.68929	0.0:0.6993:0.3007:0.0	.	541;563;505;563	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	V	563;541;563;505	ENSP00000254667:A563V;ENSP00000402337:A563V;ENSP00000303350:A505V	ENSP00000254667:A563V	A	+	2	0	PTPRE	129764945	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.553000	0.53713	0.446000	0.26666	0.655000	0.94253	GCC		0.428	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			42	77	0	0	0	1	0	42	77				
SDHB	6390	broad.mit.edu	37	1	17349119	17349119	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17349119G>A	ENST00000375499.3	-	7	899	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	250					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	ACAGGTCCTTGTGCAGTTCAT	0.557			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		"""paraganglioma, pheochromocytoma"""			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(748-750)aCa>aTa		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						179.0	161.0	167.0					1																	17349119		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis 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	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17349119G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.749C>T	1.37:g.17349119G>A	ENSP00000364649:p.Thr250Ile						p.T250I	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	7	899	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	250					B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.749C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845796	0.91197	.	.	ENSG00000117118	ENST00000375499	D	0.96885	-4.16	5.44	5.44	0.79542	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.83118	2.625	0.80722	D	1	D	0.63046	0.992	D	0.64042	0.921	D	0.98688	1.0695	10	0.87932	D	0	-18.5393	18.186	0.89793	0.0:0.0:1.0:0.0	.	250	P21912	DHSB_HUMAN	I	250	ENSP00000364649:T250I	ENSP00000364649:T250I	T	-	2	0	SDHB	17221706	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	9.087000	0.94110	2.702000	0.92279	0.655000	0.94253	ACA		0.557	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		50	58	0	0	0	1	0	50	58				
SLITRK3	22865	broad.mit.edu	37	3	164906504	164906504	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164906504G>A	ENST00000475390.1	-	2	2558	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SLITRK3_ENST00000241274.3_Silent_p.C705C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACAGCCTGTGGCATTGCATTT	0.592										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2113-2115)tgC>tgT		SLIT and NTRK-like family, member 3							95.0	71.0	79.0					3																	164906504		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906504G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2115C>T	3.37:g.164906504G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.C705C	p.C705C			O94933	SLIK3_HUMAN			2	2558	-			705					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2115C>T	CCDS3197.1																																																																																				0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		20	42	0	0	0	1	0	20	42				
PTGIR	5739	broad.mit.edu	37	19	47127272	47127272	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47127272C>T	ENST00000291294.2	-	2	344	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.V71M|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	71					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GCCACGAACACGGCCGGGCTC	0.731																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(211-213)Gtg>Atg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						7.0	10.0	9.0					19																	47127272		2078	4018	6096	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127272C>T		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.211G>A	19.37:g.47127272C>T	ENSP00000291294:p.Val71Met					PTGIR_ENST00000596260.1_Missense_Mutation_p.V71M|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron	p.V71M	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	344	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	71						Missense_Mutation	SNP	ENST00000291294.2	37	c.211G>A	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740280	0.89573	.	.	ENSG00000160013	ENST00000291294	T	0.36157	1.27	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.66446	0.2790	M	0.89840	3.065	0.53005	D	0.999968	D	0.89917	1.0	D	0.97110	1.0	T	0.73097	-0.4090	10	0.54805	T	0.06	-12.8915	15.244	0.73493	0.0:1.0:0.0:0.0	.	71	P43119	PI2R_HUMAN	M	71	ENSP00000291294:V71M	ENSP00000291294:V71M	V	-	1	0	PTGIR	51819112	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.527000	0.81931	2.451000	0.82905	0.563000	0.77884	GTG		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			4	2	0	0	0	1	0	4	2				
TCEB3C	162699	broad.mit.edu	37	18	44555201	44555201	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555201C>T	ENST00000330682.2	-	1	1248	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	338	Activation domain. {ECO:0000250}.|Interaction with elongin BC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCACTGCTGGCGCAGCGTCGG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1012-1014)cGc>cAc		transcription elongation factor B polypeptide 3C (elongin A3)							33.0	34.0	33.0					18																	44555201		1599	3232	4831	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555201C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1013G>A	18.37:g.44555201C>T	ENSP00000328232:p.Arg338His					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.R338H	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1248	-			338			Activation domain (By similarity).|Interaction with elongin BC (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1013G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.693654	0.00731	.	.	ENSG00000183791	ENST00000330682	T	0.10860	2.83	1.45	-2.91	0.05631	.	1.887960	0.03121	N	0.163726	T	0.04543	0.0124	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	B	0.32533	0.147	T	0.40040	-0.9584	10	0.13108	T	0.6	-1.1715	2.1358	0.03761	0.3199:0.3044:0.0:0.3756	.	338	Q8NG57	ELOA3_HUMAN	H	338	ENSP00000328232:R338H	ENSP00000328232:R338H	R	-	2	0	TCEB3C	42809199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.045000	0.12003	-1.091000	0.03065	-0.350000	0.07774	CGC		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		19	715	0	0	0	1	0	19	715				
IL1RL2	8808	broad.mit.edu	37	2	102849474	102849474	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102849474G>A	ENST00000264257.2	+	10	1313	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S396N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S278N|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	396	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CACAAGGAAAGCCAGAGGCAT	0.463																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1186-1188)aGc>aAc		interleukin 1 receptor-like 2							116.0	110.0	112.0					2																	102849474		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102849474G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1187G>A	2.37:g.102849474G>A	ENSP00000264257:p.Ser396Asn					IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S396N|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S278N	p.S396N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			10	1313	+			396			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1187G>A	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852769	0.32699	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03860	4.03;3.78;4.03	5.93	3.16	0.36331	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.625233	0.18274	N	0.146230	T	0.13329	0.0323	M	0.69823	2.125	0.35561	D	0.80466	D;D	0.61697	0.979;0.99	P;D	0.64877	0.864;0.93	T	0.25257	-1.0137	10	0.24483	T	0.36	.	5.2084	0.15302	0.0683:0.1287:0.5363:0.2668	.	278;396	A4FU63;Q9HB29	.;ILRL2_HUMAN	N	396;278;396	ENSP00000264257:S396N;ENSP00000413348:S278N;ENSP00000442184:S396N	ENSP00000264257:S396N	S	+	2	0	IL1RL2	102215906	0.000000	0.05858	0.827000	0.32855	0.181000	0.23173	0.098000	0.15189	0.400000	0.25396	-0.127000	0.14921	AGC		0.463	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		33	39	0	0	0	1	0	33	39				
RCC1	1104	broad.mit.edu	37	1	28858370	28858370	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28858370C>T	ENST00000373833.6	+	6	414	c.129C>T	c.(127-129)ggC>ggT	p.G43G	RCC1_ENST00000373831.3_Silent_p.G74G|RCC1_ENST00000373832.1_Silent_p.G43G|RCC1_ENST00000398958.2_Silent_p.G43G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	43					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGCCAGGGCGACGTGGGCC	0.597																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(127-129)ggC>ggT		regulator of chromosome condensation 1							55.0	57.0	56.0					1																	28858370		2203	4300	6503	SO:0001819	synonymous_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858370C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.129C>T	1.37:g.28858370C>T						RCC1_ENST00000373832.1_Silent_p.G43G|RCC1_ENST00000398958.2_Silent_p.G43G|RCC1_ENST00000373831.3_Silent_p.G74G	p.G43G			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	414	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	43					Q16269|Q6NT97	Silent	SNP	ENST00000373833.6	37	c.129C>T	CCDS323.1																																																																																				0.597	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		13	25	0	0	0	1	0	13	25				
ORMDL3	94103	broad.mit.edu	37	17	38080399	38080399	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38080399G>A	ENST00000394169.1	-	4	1552	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20C			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	20					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CAGATGCCACGGCTGTTCATC	0.597																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(58-60)Cgt>Tgt		ORM1-like 3 (S. cerevisiae)							218.0	166.0	184.0					17																	38080399		2203	4300	6503	SO:0001583	missense	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38080399G>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.58C>T	17.37:g.38080399G>A	ENSP00000377724:p.Arg20Cys					ORMDL3_ENST00000584220.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000579695.1_Missense_Mutation_p.R20C|ORMDL3_ENST00000304046.2_Missense_Mutation_p.R20C	p.R20C			Q8N138	ORML3_HUMAN	Lung(15;0.0234)		4	1552	-	Colorectal(19;0.000442)		20					B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.58C>T	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036996	0.54896	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.97	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81931	-0.0707	9	0.87932	D	0	-12.2783	11.2386	0.48955	0.0658:0.0:0.8062:0.128	.	20	Q8N138	ORML3_HUMAN	C	20	.	ENSP00000304858:R20C	R	-	1	0	ORMDL3	35333925	1.000000	0.71417	0.937000	0.37676	0.326000	0.28443	3.783000	0.55409	0.830000	0.34757	-0.140000	0.14226	CGT		0.597	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		17	20	0	0	0	1	0	17	20				
DPP3	10072	broad.mit.edu	37	11	66259059	66259059	+	Missense_Mutation	SNP	G	G	A	rs201367893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66259059G>A	ENST00000360510.2	+	8	958	c.893G>A	c.(892-894)cGc>cAc	p.R298H	DPP3_ENST00000531863.1_Missense_Mutation_p.R318H|DPP3_ENST00000530165.1_Missense_Mutation_p.R268H|DPP3_ENST00000532677.1_Missense_Mutation_p.R317H|DPP3_ENST00000541961.1_Missense_Mutation_p.R298H|DPP3_ENST00000453114.1_Missense_Mutation_p.R298H			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	298					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGGGGCTCCCGCTTCTGGATC	0.652											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		12884	0.001		0.0	False		,,,				2504	0.0					ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(949-951)cGc>cAc		dipeptidyl-peptidase 3							37.0	44.0	42.0					11																	66259059		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259059G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.893G>A	11.37:g.66259059G>A	ENSP00000353701:p.Arg298His		OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1090	DPP3_ENST00000541961.1_Missense_Mutation_p.R298H|DPP3_ENST00000531863.1_Missense_Mutation_p.R318H|DPP3_ENST00000453114.1_Missense_Mutation_p.R298H|DPP3_ENST00000360510.2_Missense_Mutation_p.R298H|DPP3_ENST00000530165.1_Missense_Mutation_p.R268H	p.R317H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			8	1351	+			298					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.950G>A	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500748	0.85176	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.21	3.3	0.37823	.	0.158785	0.56097	N	0.000037	T	0.49745	0.1575	M	0.91818	3.245	0.46749	D	0.999188	D;D	0.89917	1.0;0.989	P;P	0.59825	0.864;0.784	T	0.56643	-0.7945	10	0.87932	D	0	.	7.5635	0.27866	0.2709:0.0:0.7291:0.0	.	317;298	G3V1D3;Q9NY33	.;DPP3_HUMAN	H	318;317;298;298;298;268;196	ENSP00000432782:R318H;ENSP00000435284:R317H;ENSP00000353701:R298H;ENSP00000389943:R298H;ENSP00000440502:R298H;ENSP00000436941:R268H	ENSP00000353701:R298H	R	+	2	0	DPP3	66015635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.670000	0.61583	1.324000	0.45282	0.655000	0.94253	CGC		0.652	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			10	9	0	0	0	1	0	10	9				
KRT86	3892	broad.mit.edu	37	12	52699573	52699573	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52699573G>A	ENST00000423955.2	+	8	1204		c.e8+1		KRT86_ENST00000293525.5_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Splice_Site			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAGTGCCAGGTATGGGGCAT	0.587																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.e6+1		keratin 86							108.0	97.0	101.0					12																	52699573		2203	4300	6503	SO:0001630	splice_region_variant	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699573G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1026+1G>A	12.37:g.52699573G>A						KRT86_ENST00000423955.2_Splice_Site|KRT86_ENST00000544024.1_Splice_Site		NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1078	+								P78387	Splice_Site	SNP	ENST00000423955.2	37		CCDS41785.1	.	.	.	.	.	.	.	.	.	.	g	18.74	3.689028	0.68271	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2677	0.82600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50985840	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	9.506000	0.97992	2.289000	0.77006	0.555000	0.69702	.		0.587	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284	Intron	25	48	0	0	0	1	0	25	48				
DNAH2	146754	broad.mit.edu	37	17	7734419	7734419	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7734419G>A	ENST00000572933.1	+	80	13706	c.12246G>A	c.(12244-12246)gaG>gaA	p.E4082E	DNAH2_ENST00000389173.2_Silent_p.E4082E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4082					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGCACTGGAGACTTATTTCA	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12244-12246)gaG>gaA		dynein, axonemal, heavy chain 2							237.0	235.0	236.0					17																	7734419		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734419G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12246G>A	17.37:g.7734419G>A						DNAH2_ENST00000389173.2_Silent_p.E4082E	p.E4082E			Q9P225	DYH2_HUMAN			80	13706	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4082					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12246G>A	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		124	151	0	0	0	1	0	124	151				
MAP1LC3C	440738	broad.mit.edu	37	1	242159540	242159540	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:242159540C>A	ENST00000357246.3	-	4	433	c.369G>T	c.(367-369)gaG>gaT	p.E123D		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	123					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCAAATGTCTCCTGGGAGG	0.567																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(367-369)gaG>gaT		microtubule-associated protein 1 light chain 3 gamma							148.0	131.0	137.0					1																	242159540		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159540C>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.369G>T	1.37:g.242159540C>A	ENSP00000349785:p.Glu123Asp						p.E123D	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	433	-			123					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.369G>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067311	0.55539	.	.	ENSG00000197769	ENST00000357246	T	0.44482	0.92	4.11	4.11	0.48088	.	0.052887	0.85682	D	0.000000	T	0.42698	0.1214	M	0.71206	2.165	0.46396	D	0.999023	B	0.06786	0.001	B	0.23574	0.047	T	0.41016	-0.9532	10	0.41790	T	0.15	.	10.8676	0.46864	0.0:0.9062:0.0:0.0938	.	123	Q9BXW4	MLP3C_HUMAN	D	123	ENSP00000349785:E123D	ENSP00000349785:E123D	E	-	3	2	MAP1LC3C	240226163	1.000000	0.71417	0.970000	0.41538	0.761000	0.43186	2.497000	0.45354	2.117000	0.64856	0.643000	0.83706	GAG		0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		26	39	1	0	1.1804e-14	1	1.28927e-14	26	39				
ERMARD	55780	broad.mit.edu	37	6	170169676	170169676	+	Missense_Mutation	SNP	G	G	A	rs367621676		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170169676G>A	ENST00000366773.3	+	12	1133	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000418781.3_Missense_Mutation_p.R367H|ERMARD_ENST00000366772.2_Missense_Mutation_p.R367H|ERMARD_ENST00000392095.4_Missense_Mutation_p.R241H|ERMARD_ENST00000588451.1_Missense_Mutation_p.R231H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	367					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAGGGTCCCCGCATAAGAGAT	0.403																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(691-693)cGc>cAc				G	HIS/ARG	1,4405		0,1,2202	52.0	49.0	50.0		1100	5.3	0.9	6		50	0,8600		0,0,4300	no	missense	C6orf70	NM_018341.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	367/679	170169676	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170169676G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1100G>A	6.37:g.170169676G>A	ENSP00000355735:p.Arg367His					C6orf70_ENST00000366772.2_Missense_Mutation_p.R367H|C6orf70_ENST00000418781.3_Missense_Mutation_p.R367H|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241H|C6orf70_ENST00000366773.3_Missense_Mutation_p.R367H	p.R231H			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	11	1205	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	367					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.692G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.105077	0.77096	2.27E-4	0.0	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.69306	-0.39;-0.36	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000008	T	0.82070	0.4957	M	0.84846	2.72	0.39448	D	0.967353	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.85092	0.0952	10	0.87932	D	0	.	18.7053	0.91635	0.0:0.0:1.0:0.0	.	367;367;367	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	H	367;367;367;241;15	ENSP00000355735:R367H;ENSP00000375945:R241H	ENSP00000355733:R15H	R	+	2	0	C6orf70	169911601	0.998000	0.40836	0.933000	0.37362	0.583000	0.36354	5.919000	0.70005	2.524000	0.85096	0.644000	0.83932	CGC		0.403	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		4	35	0	0	0	1	0	4	35				
SEMA7A	8482	broad.mit.edu	37	15	74703066	74703066	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74703066C>T	ENST00000261918.4	-	14	2448	c.1900G>A	c.(1900-1902)Ggc>Agc	p.G634S	SEMA7A_ENST00000543145.2_Missense_Mutation_p.G620S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G469S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	634					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCCATGATGCCGTCCTCGGGC	0.667																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1900-1902)Ggc>Agc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							42.0	43.0	42.0					15																	74703066		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703066C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1900G>A	15.37:g.74703066C>T	ENSP00000261918:p.Gly634Ser					SEMA7A_ENST00000543145.2_Missense_Mutation_p.G620S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G469S	p.G634S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2448	-			634					B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1900G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.536148	0.00942	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.19105	2.17;2.17;2.36	3.83	-0.584	0.11702	.	1.181870	0.06178	N	0.678990	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.037	B;B	0.13407	0.009;0.004	T	0.31336	-0.9947	10	0.06365	T	0.9	-4.5522	5.6118	0.17410	0.0:0.2176:0.4463:0.3361	.	620;634	F5H1S0;O75326	.;SEM7A_HUMAN	S	634;620;469	ENSP00000261918:G634S;ENSP00000438966:G620S;ENSP00000441493:G469S	ENSP00000261918:G634S	G	-	1	0	SEMA7A	72490119	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.780000	0.04654	0.013000	0.14918	0.555000	0.69702	GGC		0.667	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		14	12	0	0	0	1	0	14	12				
SIPA1L1	26037	broad.mit.edu	37	14	72139213	72139213	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72139213G>A	ENST00000555818.1	+	9	3326	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R993H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R993H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R468H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	993	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGGCAGTCGCCTGGTGGAG	0.582																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2977-2979)cGc>cAc		signal-induced proliferation-associated 1 like 1							79.0	62.0	68.0					14																	72139213		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72139213G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2978G>A	14.37:g.72139213G>A	ENSP00000450832:p.Arg993His					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R993H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R993H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R468H	p.R993H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	9	3326	+			993			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2978G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250329	0.95305	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.95	5.95	0.96441	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.996;1.0;1.0;0.987	D	0.83775	0.0222	10	0.87932	D	0	-21.6201	20.3931	0.98965	0.0:0.0:1.0:0.0	.	468;993;468;993;993	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	993;993;993;468	ENSP00000370630:R993H;ENSP00000450832:R993H;ENSP00000351352:R993H;ENSP00000440682:R468H	ENSP00000351352:R993H	R	+	2	0	SIPA1L1	71208966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CGC		0.582	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		21	33	0	0	0	1	0	21	33				
SEMA5A	9037	broad.mit.edu	37	5	9052014	9052014	+	Missense_Mutation	SNP	G	G	A	rs369362878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:9052014G>A	ENST00000382496.5	-	20	3481	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	939	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAACACACACGGCCGGCTCTC	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2815-2817)cCg>cTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		G	LEU/PRO	1,4405		0,1,2202	51.0	53.0	53.0		2816	4.2	0.8	5		53	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	939/1075	9052014	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052014G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2816C>T	5.37:g.9052014G>A	ENSP00000371936:p.Pro939Leu						p.P939L	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			20	3481	-			939			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2816C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491079	0.44249	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.52526	0.66	5.12	4.24	0.50183	.	0.254436	0.40640	N	0.001046	T	0.28532	0.0706	N	0.16743	0.435	0.47994	D	0.999569	P	0.39696	0.683	B	0.38428	0.273	T	0.05517	-1.0880	10	0.35671	T	0.21	.	6.7741	0.23611	0.0894:0.0:0.733:0.1776	.	939	Q13591	SEM5A_HUMAN	L	939	ENSP00000371936:P939L	ENSP00000371936:P939L	P	-	2	0	SEMA5A	9105014	1.000000	0.71417	0.826000	0.32828	0.321000	0.28281	6.404000	0.73268	1.260000	0.44134	0.655000	0.94253	CCG		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			26	35	0	0	0	1	0	26	35				
OR5D18	219438	broad.mit.edu	37	11	55588008	55588008	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55588008A>G	ENST00000333976.4	+	1	923	c.903A>G	c.(901-903)acA>acG	p.T301T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAGGATACAGTCACCGAGA	0.418																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(901-903)acA>acG		olfactory receptor, family 5, subfamily D, member 18							64.0	68.0	67.0					11																	55588008		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55588008A>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.903A>G	11.37:g.55588008A>G							p.T301T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	923	+		all_epithelial(135;0.208)	301					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.903A>G	CCDS31510.1																																																																																				0.418	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		11	28	0	0	0	1	0	11	28				
ZNF785	146540	broad.mit.edu	37	16	30594700	30594700	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30594700C>T	ENST00000395216.2	-	3	558	c.399G>A	c.(397-399)gcG>gcA	p.A133A	RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.A118A|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CCACTTCATGCGCCACCTCTT	0.522																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(397-399)gcG>gcA		zinc finger protein 785							87.0	95.0	92.0					16																	30594700		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594700C>T	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.399G>A	16.37:g.30594700C>T						AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.A118A	p.A133A	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	558	-			133					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.399G>A	CCDS10685.1																																																																																				0.522	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		27	39	0	0	0	1	0	27	39				
SLTM	79811	broad.mit.edu	37	15	59191688	59191688	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59191688C>T	ENST00000380516.2	-	7	1125	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	346					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACCAGAGGCCCCAGTAGACG	0.443																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1036-1038)ggG>ggA		SAFB-like, transcription modulator							76.0	82.0	80.0					15																	59191688		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59191688C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1038G>A	15.37:g.59191688C>T						SLTM_ENST00000536328.1_Intron	p.G346G	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			7	1125	-			346					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.1038G>A	CCDS10168.2																																																																																				0.443	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		18	30	0	0	0	1	0	18	30				
DHX35	60625	broad.mit.edu	37	20	37659397	37659397	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37659397A>C	ENST00000252011.3	+	20	1967	c.1934A>C	c.(1933-1935)tAt>tCt	p.Y645S	DHX35_ENST00000373323.4_Missense_Mutation_p.Y614S|DHX35_ENST00000373325.2_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	645					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCAGTCCTCTATGCAGAGAAG	0.468																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1933-1935)tAt>tCt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							130.0	102.0	112.0					20																	37659397		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37659397A>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1934A>C	20.37:g.37659397A>C	ENSP00000252011:p.Tyr645Ser					DHX35_ENST00000373323.4_Missense_Mutation_p.Y614S|DHX35_ENST00000373325.2_Intron	p.Y645S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			20	1967	+		Myeloproliferative disorder(115;0.00878)	645					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1934A>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996911	0.74818	.	.	ENSG00000101452	ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T	0.30182	4.24;4.16;1.54	5.76	5.76	0.90799	Domain of unknown function DUF1605 (1);	0.054747	0.85682	D	0.000000	T	0.34366	0.0895	L	0.60012	1.86	0.80722	D	1	P;B	0.35575	0.51;0.267	B;B	0.35770	0.21;0.081	T	0.19943	-1.0290	10	0.87932	D	0	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	614;645	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	S	645;614;125;109	ENSP00000252011:Y645S;ENSP00000362420:Y614S;ENSP00000397997:Y109S	ENSP00000252011:Y645S	Y	+	2	0	DHX35	37092811	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	7.641000	0.83368	2.324000	0.78689	0.533000	0.62120	TAT		0.468	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		7	39	0	0	0	1	0	7	39				
KIAA1462	57608	broad.mit.edu	37	10	30316868	30316868	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30316868G>A	ENST00000375377.1	-	3	2310	c.2209C>T	c.(2209-2211)Cct>Tct	p.P737S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	737					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCGGTAGGGAATGCTGTG	0.572																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2209-2211)Cct>Tct		KIAA1462							53.0	56.0	55.0					10																	30316868		2125	4245	6370	SO:0001583	missense	57608							g.chr10:30316868G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2209C>T	10.37:g.30316868G>A	ENSP00000364526:p.Pro737Ser						p.P737S	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2310	-			737					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2209C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015705	0.19355	.	.	ENSG00000165757	ENST00000375377	T	0.11930	2.73	5.62	-1.11	0.09840	.	1.205760	0.05630	N	0.581461	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.09377	0.004	T	0.38993	-0.9635	10	0.21014	T	0.42	-0.7531	3.3321	0.07088	0.1691:0.2928:0.3906:0.1476	.	737	Q9P266	K1462_HUMAN	S	737	ENSP00000364526:P737S	ENSP00000364526:P737S	P	-	1	0	KIAA1462	30356874	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.649000	0.05384	-0.147000	0.11254	-0.311000	0.09066	CCT		0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	25	0	0	0	1	0	12	25				
PELO	53918	broad.mit.edu	37	5	52096778	52096778	+	Missense_Mutation	SNP	C	C	T	rs571174898		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52096778C>T	ENST00000274311.2	+	2	1535	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	184					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGCCTTGGAGCGGTTCTATGA	0.542																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(550-552)Cgg>Tgg		pelota homolog (Drosophila)							99.0	91.0	94.0					5																	52096778		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096778C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.550C>T	5.37:g.52096778C>T	ENSP00000274311:p.Arg184Trp					ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	p.R184W	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1535	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	184					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.550C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258025	0.59321	.	.	ENSG00000152684	ENST00000274311	T	0.44482	0.92	5.25	4.36	0.52297	eRF1 domain 2 (1);	0.146455	0.42964	U	0.000629	T	0.65903	0.2736	M	0.87456	2.885	0.51012	D	0.999901	D	0.76494	0.999	D	0.67548	0.952	T	0.72017	-0.4417	10	0.66056	D	0.02	-11.4719	12.1195	0.53883	0.3098:0.6902:0.0:0.0	.	184	Q9BRX2	PELO_HUMAN	W	184	ENSP00000274311:R184W	ENSP00000274311:R184W	R	+	1	2	PELO	52132535	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.773000	0.26661	1.409000	0.46915	0.563000	0.77884	CGG		0.542	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		16	35	0	0	0	1	0	16	35				
CSTF2T	23283	broad.mit.edu	37	10	53457601	53457601	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53457601G>T	ENST00000331173.4	-	1	1754	c.1709C>A	c.(1708-1710)aCt>aAt	p.T570N	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	570					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ATCCTGTGGAGTGACCTGGCT	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1708-1710)aCt>aAt		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							137.0	109.0	119.0					10																	53457601		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457601G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1709C>A	10.37:g.53457601G>T	ENSP00000332444:p.Thr570Asn					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.T570N	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1754	-			570					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1709C>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544765	0.45280	.	.	ENSG00000177613	ENST00000331173	T	0.23754	1.89	4.65	4.65	0.58169	.	0.170317	0.52532	D	0.000080	T	0.27169	0.0666	N	0.08118	0	0.49299	D	0.999775	D	0.61697	0.99	P	0.60236	0.871	T	0.16571	-1.0398	10	0.45353	T	0.12	-19.8823	15.4371	0.75155	0.0:0.0:1.0:0.0	.	570	Q9H0L4	CSTFT_HUMAN	N	570	ENSP00000332444:T570N	ENSP00000332444:T570N	T	-	2	0	CSTF2T	53127607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.493000	0.60341	2.599000	0.87857	0.655000	0.94253	ACT		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		9	16	1	0	1.12685e-05	1	1.16601e-05	9	16				
INPP5F	22876	broad.mit.edu	37	10	121580392	121580392	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:121580392C>A	ENST00000361976.2	+	16	2087	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.L31M	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CGTGGATGTGCTGTTACTGCT	0.338																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1921-1923)Ctg>Atg		inositol polyphosphate-5-phosphatase F							236.0	213.0	221.0					10																	121580392		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121580392C>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1921C>A	10.37:g.121580392C>A	ENSP00000354519:p.Leu641Met					INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.L31M	p.L641M	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	16	2087	+		Lung NSC(174;0.109)|all_lung(145;0.142)	641					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1921C>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122395	0.77436	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.53423	0.9;0.62	5.68	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.49406	0.1555	L	0.36672	1.1	0.80722	D	1	P;P	0.49862	0.684;0.929	B;P	0.52309	0.343;0.695	T	0.52764	-0.8532	10	0.87932	D	0	-9.2835	12.3965	0.55389	0.0:0.8604:0.0:0.1396	.	31;641	Q5W135;Q9Y2H2	.;SAC2_HUMAN	M	641;31	ENSP00000354519:L641M;ENSP00000358076:L31M	ENSP00000354519:L641M	L	+	1	2	INPP5F	121570382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	1.402000	0.46780	0.467000	0.42956	CTG		0.338	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		35	45	1	0	6.33695e-27	1	7.08463e-27	35	45				
PRUNE2	158471	broad.mit.edu	37	9	79321905	79321905	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79321905C>A	ENST00000376718.3	-	8	5408	c.5285G>T	c.(5284-5286)aGc>aTc	p.S1762I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1403I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1762					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCAGGGCTGCTTTGTTGATT	0.438																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4207-4209)aGc>aTc		prune homolog 2 (Drosophila)							186.0	145.0	158.0					9																	79321905		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321905C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5285G>T	9.37:g.79321905C>A	ENSP00000365908:p.Ser1762Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1762I	p.S1403I			Q8WUY3	PRUN2_HUMAN			8	5408	-			1762					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4208G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639368|1.639368	0.29157|0.29157	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.54279	.|0.59;0.58	6.03|6.03	3.08|3.08	0.35506|0.35506	.|.	.|0.089524	.|0.49305	.|D	.|0.000144	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|P	.|0.37330	.|0.59	.|B	.|0.35182	.|0.197	T|T	0.41840|0.41840	-0.9486|-0.9486	5|10	.|0.87932	.|D	.|0	-7.792|-7.792	6.1953|6.1953	0.20546|0.20546	0.1494:0.6955:0.0:0.1551|0.1494:0.6955:0.0:0.1551	.|.	.|1762	.|Q8WUY3	.|PRUN2_HUMAN	N|I	1083|1762;1403;1761	.|ENSP00000365908:S1762I;ENSP00000397425:S1403I	.|ENSP00000365908:S1762I	K|S	-|-	3|2	2|0	PRUNE2|PRUNE2	78511725|78511725	0.999000|0.999000	0.42202|0.42202	0.989000|0.989000	0.46669|0.46669	0.035000|0.035000	0.12851|0.12851	0.430000|0.430000	0.21428|0.21428	0.898000|0.898000	0.36418|0.36418	-0.136000|-0.136000	0.14681|0.14681	AAG|AGC		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	39	1	0	0.000673444	1	0.000685014	11	39				
RPS6KA3	6197	broad.mit.edu	37	X	20222195	20222195	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:20222195G>T	ENST00000379565.3	-	4	477	c.270C>A	c.(268-270)ggC>ggA	p.G90G	RPS6KA3_ENST00000540702.1_Silent_p.G62G|RPS6KA3_ENST00000544447.1_Silent_p.G62G|RPS6KA3_ENST00000379548.4_Silent_p.G61G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	90	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TAGCATCAGAGCCTGAGATTT	0.333																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(268-270)ggC>ggA		ribosomal protein S6 kinase, 90kDa, polypeptide 3							115.0	106.0	109.0					X																	20222195		2203	4300	6503	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20222195G>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.270C>A	X.37:g.20222195G>T						RPS6KA3_ENST00000544447.1_Silent_p.G62G|RPS6KA3_ENST00000540702.1_Silent_p.G62G|RPS6KA3_ENST00000379548.4_Silent_p.G61G	p.G90G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			4	477	-			90			Protein kinase 1.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.270C>A	CCDS14197.1																																																																																				0.333	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		5	57	1	0	3.59834e-05	1	3.7043e-05	5	57				
THBS1	7057	broad.mit.edu	37	15	39882195	39882195	+	Missense_Mutation	SNP	G	G	A	rs566689933		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39882195G>A	ENST00000260356.5	+	13	2281	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	706					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CCTGGTGTGCGTGGCCAATGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18946	0.0		0.001	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2116-2118)Gtg>Atg		thrombospondin 1	Becaplermin(DB00102)						85.0	68.0	74.0					15																	39882195		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39882195G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2116G>A	15.37:g.39882195G>A	ENSP00000260356:p.Val706Met						p.V706M	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	13	2281	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	706					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2116G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391089	0.82902	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.79	5.79	0.91817	.	0.000000	0.32802	N	0.005638	D	0.85784	0.5777	L	0.49126	1.545	0.51482	D	0.999929	D;D	0.89917	0.998;1.0	P;D	0.80764	0.869;0.994	D	0.83803	0.0237	10	0.40728	T	0.16	-14.6518	20.0081	0.97439	0.0:0.0:1.0:0.0	.	621;706	B4E3J7;P07996	.;TSP1_HUMAN	M	706	ENSP00000260356:V706M	ENSP00000260356:V706M	V	+	1	0	THBS1	37669487	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.634000	0.74290	2.738000	0.93877	0.655000	0.94253	GTG		0.552	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		6	2	0	0	0	1	0	6	2				
CHCHD2	51142	broad.mit.edu	37	7	56172109	56172109	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:56172109G>A	ENST00000395422.3	-	2	272	c.110C>T	c.(109-111)gCg>gTg	p.A37V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	37						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGGGTGCCGCTGCTGGTGG	0.607																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(109-111)gCg>gTg		coiled-coil-helix-coiled-coil-helix domain containing 2							12.0	15.0	14.0					7																	56172109		2190	4293	6483	SO:0001583	missense	51142					mitochondrion		g.chr7:56172109G>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.110C>T	7.37:g.56172109G>A	ENSP00000378812:p.Ala37Val						p.A37V	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	272	-	Breast(14;0.214)		37					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.110C>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733277	0.30684	.	.	ENSG00000106153	ENST00000395422	T	0.50548	0.74	5.09	2.18	0.27775	.	0.655287	0.15006	N	0.285839	T	0.44871	0.1314	M	0.78049	2.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	10	0.18710	T	0.47	.	9.1435	0.36919	0.2481:0.0:0.7519:0.0	.	37	Q9Y6H1	CHCH2_HUMAN	V	37	ENSP00000378812:A37V	ENSP00000378812:A37V	A	-	2	0	CHCHD2	56139603	0.184000	0.23200	0.004000	0.12327	0.958000	0.62258	1.223000	0.32527	0.272000	0.22027	0.655000	0.94253	GCG		0.607	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		9	19	0	0	0	1	0	9	19				
ZMYM1	79830	broad.mit.edu	37	1	35580705	35580705	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35580705C>T	ENST00000373330.1	+	11	3448	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R1092C			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1092						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCCTGCCTCGTCTTAAGAC	0.403																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3274-3276)Cgt>Tgt		zinc finger, MYM-type 1							117.0	108.0	111.0					1																	35580705		1855	4115	5970	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580705C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3274C>T	1.37:g.35580705C>T	ENSP00000362427:p.Arg1092Cys					ZMYM1_ENST00000359858.4_Missense_Mutation_p.R1092C|ZMYM1_ENST00000373329.1_3'UTR	p.R1092C			Q5SVZ6	ZMYM1_HUMAN			11	3448	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1092					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3274C>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993120	0.35131	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.24723	1.84;1.84;1.84	4.5	4.5	0.54988	HAT dimerisation (1);Ribonuclease H-like (1);	0.282625	0.25922	N	0.027426	T	0.47746	0.1462	M	0.79805	2.47	0.38248	D	0.94152	D;D	0.69078	0.997;0.997	P;P	0.58077	0.765;0.832	T	0.54510	-0.8283	9	.	.	.	-1.6608	15.5099	0.75772	0.0:1.0:0.0:0.0	.	1073;1092	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	C	1092;1017;1092	ENSP00000352920:R1092C;ENSP00000362426:R1017C;ENSP00000362427:R1092C	.	R	+	1	0	ZMYM1	35353292	0.993000	0.37304	0.900000	0.35374	0.195000	0.23768	2.750000	0.47500	2.791000	0.96007	0.591000	0.81541	CGT		0.403	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		39	50	0	0	0	1	0	39	50				
TARBP1	6894	broad.mit.edu	37	1	234534276	234534276	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234534276G>A	ENST00000040877.1	-	26	4094	c.4095C>T	c.(4093-4095)cgC>cgT	p.R1365R	TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCCTGAAAGGCGTGGAAGGA	0.318																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4093-4095)cgC>cgT		TAR (HIV-1) RNA binding protein 1							67.0	69.0	69.0					1																	234534276		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234534276G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4095C>T	1.37:g.234534276G>A						TARBP1_ENST00000483404.1_Intron	p.R1365R	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		26	4094	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1365					Q9H581	Silent	SNP	ENST00000040877.1	37	c.4095C>T	CCDS1601.1																																																																																				0.318	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		15	8	0	0	0	1	0	15	8				
MYO9A	4649	broad.mit.edu	37	15	72338298	72338298	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72338298A>G	ENST00000356056.5	-	2	1079	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000424560.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000564571.1_Missense_Mutation_p.Y203H|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	203	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGTTATCATACATTTTGACA	0.363																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(607-609)Tat>Cat		myosin IXA							80.0	75.0	77.0					15																	72338298		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338298A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.607T>C	15.37:g.72338298A>G	ENSP00000348349:p.Tyr203His					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.Y203H|MYO9A_ENST00000424560.1_Missense_Mutation_p.Y203H	p.Y203H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1079	-			203			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.607T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274285	0.80580	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.82526	-1.62;-1.62;-1.62	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	D	0.93697	0.7986	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95237	0.8348	9	0.87932	D	0	.	16.4074	0.83684	1.0:0.0:0.0:0.0	.	203;203;203	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	203	ENSP00000348349:Y203H;ENSP00000399162:Y203H;ENSP00000398250:Y203H	ENSP00000261864:Y203H	Y	-	1	0	MYO9A	70125352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.275000	0.75901	0.529000	0.55759	TAT		0.363	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	19	0	0	0	1	0	20	19				
DYRK3	8444	broad.mit.edu	37	1	206821761	206821761	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206821761G>T	ENST00000367109.2	+	3	1386	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.Q386H|DYRK3_ENST00000367108.3_Missense_Mutation_p.Q386H	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TAACAGGACAGCCTCTCTTCC	0.498																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1156-1158)caG>caT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							111.0	118.0	116.0					1																	206821761		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821761G>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1218G>T	1.37:g.206821761G>T	ENSP00000356076:p.Gln406His					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.Q386H|DYRK3_ENST00000367109.2_Missense_Mutation_p.Q406H	p.Q386H			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1631	+	Breast(84;0.183)		406			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1158G>T	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458855	0.26248	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.66099	-0.19;-0.19;-0.19	5.31	3.42	0.39159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111774	0.64402	D	0.000006	T	0.37679	0.1012	N	0.11364	0.135	0.36836	D	0.887143	B;B	0.13594	0.002;0.008	B;B	0.18263	0.021;0.012	T	0.25222	-1.0138	10	0.48119	T	0.1	.	4.5199	0.11954	0.0807:0.3039:0.4751:0.1403	.	406;386	O43781;O43781-2	DYRK3_HUMAN;.	H	406;386;386	ENSP00000356076:Q406H;ENSP00000356075:Q386H;ENSP00000356073:Q386H	ENSP00000356073:Q386H	Q	+	3	2	DYRK3	204888384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.168000	0.50801	0.789000	0.33779	0.555000	0.69702	CAG		0.498	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		36	67	1	0	6.53348e-20	1	7.23485e-20	36	67				
PLG	5340	broad.mit.edu	37	6	161160103	161160103	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161160103C>T	ENST00000308192.9	+	16	1944	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	627	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCTAGGTCCCCAAGGCCTT	0.507																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1879-1881)tcC>tcT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						158.0	148.0	151.0					6																	161160103		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160103C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1881C>T	6.37:g.161160103C>T							p.S627S	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	1944	+			627			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1881C>T	CCDS5279.1																																																																																				0.507	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		7	82	0	0	0	1	0	7	82				
ANKHD1	54882	broad.mit.edu	37	5	139908134	139908134	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139908134G>A	ENST00000360839.2	+	29	5757	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R251Q|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1868Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1868Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1868						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGATTCGGCATCCTCGC	0.498																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5602-5604)cGg>cAg		ankyrin repeat and KH domain containing 1							128.0	122.0	124.0					5																	139908134		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139908134G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5603G>A	5.37:g.139908134G>A	ENSP00000354085:p.Arg1868Gln					ANKHD1_ENST00000544120.1_Missense_Mutation_p.R251Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1868Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1868Q	p.R1868Q	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5727	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5603G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187809	0.78789	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	T;T;T;T;T;T	0.72051	-0.59;-0.62;1.47;1.4;0.95;-0.62	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.997;0.997	D;D;D;D;D;D	0.80764	0.986;0.988;0.994;0.988;0.968;0.968	T	0.80997	-0.1132	10	0.42905	T	0.14	.	18.452	0.90707	0.0:0.0:1.0:0.0	.	251;298;251;1868;1868;1868	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	Q	1868;1868;1868;524;303;390;251;1868	ENSP00000354085:R1868Q;ENSP00000297183:R1868Q;ENSP00000393204:R524Q;ENSP00000390034:R390Q;ENSP00000437687:R251Q;ENSP00000432016:R1868Q	ENSP00000432016:R1868Q	R	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.595000	0.87683	0.650000	0.86243	CGG		0.498	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		46	43	0	0	0	1	0	46	43				
SAMHD1	25939	broad.mit.edu	37	20	35539668	35539668	+	Missense_Mutation	SNP	C	C	T	rs140417977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35539668C>T	ENST00000262878.4	-	11	1422	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	408					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGTAGAAATGCGATACTTTTT	0.358																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1222-1224)cGc>cAc		SAM domain and HD domain 1		C	HIS/ARG	0,4406		0,0,2203	148.0	126.0	133.0		1223	-10.0	0.0	20	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	SAMHD1	NM_015474.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	408/627	35539668	2,13004	2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35539668C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1223G>A	20.37:g.35539668C>T	ENSP00000262878:p.Arg408His						p.R408H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			11	1422	-		Myeloproliferative disorder(115;0.00878)	408					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1223G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	3.762	-0.049490	0.07407	0.0	2.33E-4	ENSG00000101347	ENST00000262878	D	0.95137	-3.62	5.29	-10.0	0.00425	.	1.685210	0.03147	N	0.167436	D	0.85452	0.5700	N	0.11427	0.14	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.73892	-0.3839	10	0.31617	T	0.26	-2.2311	11.4457	0.50123	0.0:0.5263:0.2757:0.198	.	408	Q9Y3Z3	SAMH1_HUMAN	H	408	ENSP00000262878:R408H	ENSP00000262878:R408H	R	-	2	0	SAMHD1	34973082	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.948000	0.01533	-1.691000	0.01430	-0.384000	0.06662	CGC		0.358	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		4	92	0	0	0	1	0	4	92				
MUC16	94025	broad.mit.edu	37	19	9075008	9075008	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9075008T>C	ENST00000397910.4	-	3	12641	c.12438A>G	c.(12436-12438)tcA>tcG	p.S4146S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4148	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTGGCTGTGATGTATCCT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12436-12438)tcA>tcG		mucin 16, cell surface associated							149.0	140.0	143.0					19																	9075008		2027	4173	6200	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075008T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12438A>G	19.37:g.9075008T>C							p.S4146S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12641	-			4148			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12438A>G	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	47	0	0	0	1	0	33	47				
C2orf73	129852	broad.mit.edu	37	2	54570996	54570996	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54570996C>A	ENST00000398634.2	+	3	416	c.374C>A	c.(373-375)cCt>cAt	p.P125H	C2orf73_ENST00000405749.1_Missense_Mutation_p.P67H|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	125										breast(2)	2						ATGCAAAAGCCTTCTTGTGGA	0.418																																						ENST00000398634.2																			0				breast(2)	2						c.(373-375)cCt>cAt		chromosome 2 open reading frame 73							55.0	57.0	56.0					2																	54570996		1872	4089	5961	SO:0001583	missense	129852							g.chr2:54570996C>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.374C>A	2.37:g.54570996C>A	ENSP00000381631:p.Pro125His					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.P67H	p.P125H	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	416	+			125					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.374C>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283090	0.40394	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.46	5.46	0.80206	.	0.280312	0.29846	N	0.011052	T	0.59702	0.2213	M	0.70275	2.135	0.44302	D	0.997177	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.59700	-0.7405	10	0.59425	D	0.04	-16.424	16.3236	0.82964	0.0:1.0:0.0:0.0	.	67;125	B7ZM12;Q8N5S3	.;CB073_HUMAN	H	131;67;125;67	ENSP00000417971:P131H;ENSP00000385348:P67H;ENSP00000381631:P125H;ENSP00000389570:P67H	ENSP00000381631:P125H	P	+	2	0	C2orf73	54424500	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.972000	0.56838	2.838000	0.97847	0.591000	0.81541	CCT		0.418	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		17	22	1	0	3.52763e-06	1	3.66169e-06	17	22				
CEP170	9859	broad.mit.edu	37	1	243329090	243329090	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243329090G>T	ENST00000366542.1	-	13	2223	c.2172C>A	c.(2170-2172)agC>agA	p.S724R	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S626R|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Missense_Mutation_p.S626R|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	724						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGGAGCAGAGCTGCCTAAGT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(2170-2172)agC>agA		centrosomal protein 170kDa							168.0	155.0	159.0					1																	243329090		1836	4088	5924	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243329090G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2172C>A	1.37:g.243329090G>T	ENSP00000355500:p.Ser724Arg					CEP170_ENST00000366544.1_Missense_Mutation_p.S626R|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S626R	p.S724R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	2223	-	all_neural(11;0.101)	all_cancers(173;0.003)	724					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.2172C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.856|0.856	-0.736771|-0.736771	0.03111|0.03111	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.48201	.|0.84;0.82;0.88	5.13|5.13	3.23|3.23	0.37069|0.37069	.|.	.|1.296840	.|0.05482	.|N	.|0.554955	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.31383	.|0.321;0.096;0.045;0.034	.|B;B;B;B	.|0.31686	.|0.134;0.067;0.067;0.02	T|T	0.28964|0.28964	-1.0027|-1.0027	5|10	.|0.40728	.|T	.|0.16	4.1873|4.1873	7.9611|7.9611	0.30072|0.30072	0.1956:0.0:0.8044:0.0|0.1956:0.0:0.8044:0.0	.|.	.|687;626;626;724	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	D|R	688|724;626;626	.|ENSP00000355500:S724R;ENSP00000355502:S626R;ENSP00000355501:S626R	.|ENSP00000355500:S724R	A|S	-|-	2|3	0|2	CEP170|CEP170	241395713|241395713	0.009000|0.009000	0.17119|0.17119	0.002000|0.002000	0.10522|0.10522	0.429000|0.429000	0.31625|0.31625	1.224000|1.224000	0.32539|0.32539	1.152000|1.152000	0.42452|0.42452	0.484000|0.484000	0.47621|0.47621	GCT|AGC		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		39	59	1	0	1.07637e-12	1	1.16607e-12	39	59				
TRAF6	7189	broad.mit.edu	37	11	36511685	36511685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36511685C>T	ENST00000526995.1	-	7	1518	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Nonsense_Mutation_p.W424*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	424	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTGGAAGGGCCAAGGGAGGT	0.483																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1270-1272)tgG>tgA		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							95.0	90.0	92.0					11																	36511685		2202	4298	6500	SO:0001587	stop_gained	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511685C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1272G>A	11.37:g.36511685C>T	ENSP00000433623:p.Trp424*					TRAF6_ENST00000348124.5_Nonsense_Mutation_p.W424*	p.W424*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1518	-	all_lung(20;0.211)	all_hematologic(20;0.107)	424			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Nonsense_Mutation	SNP	ENST00000526995.1	37	c.1272G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	39	7.599311	0.98381	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8205	19.4287	0.94755	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000337853:W424X	W	-	3	0	TRAF6	36468261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.668000	0.90789	0.555000	0.69702	TGG		0.483	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		30	18	0	0	0	1	0	30	18				
PRKCA	5578	broad.mit.edu	37	17	64641529	64641529	+	Silent	SNP	C	C	T	rs149096693		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:64641529C>T	ENST00000413366.3	+	5	455	c.429C>T	c.(427-429)tgC>tgT	p.C143C		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	143					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACAAGCAATGCGTCATCAATG	0.517																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(427-429)tgC>tgT		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)	C		1,4405	2.1+/-5.4	0,1,2202	174.0	137.0	150.0		429	-3.4	0.8	17	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	PRKCA	NM_002737.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		143/673	64641529	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64641529C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.429C>T	17.37:g.64641529C>T							p.C143C	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		5	455	+			143					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.429C>T	CCDS11664.1																																																																																				0.517	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			18	28	0	0	0	1	0	18	28				
NPBWR2	2832	broad.mit.edu	37	20	62737666	62737666	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62737666G>A	ENST00000369768.1	-	1	858	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	173					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGACCGTGACGCCCAGCCAGA	0.667																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(517-519)ggC>ggT		neuropeptides B/W receptor 2							29.0	30.0	29.0					20																	62737666		2201	4293	6494	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737666G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.519C>T	20.37:g.62737666G>A							p.G173G	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	858	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		173					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.519C>T	CCDS13557.1																																																																																				0.667	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		11	20	0	0	0	1	0	11	20				
SSU72	29101	broad.mit.edu	37	1	1479341	1479341	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1479341A>G	ENST00000291386.3	-	4	702	c.391T>C	c.(391-393)Tgc>Cgc	p.C131R		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	131					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACAGGCTGGCAGGTCTCCTGT	0.557																																						ENST00000291386.3																			0				large_intestine(2)|lung(5)	7						c.(391-393)Tgc>Cgc		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)							104.0	94.0	97.0					1																	1479341		2203	4300	6503	SO:0001583	missense	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1479341A>G	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.391T>C	1.37:g.1479341A>G	ENSP00000291386:p.Cys131Arg						p.C131R	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	4	702	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)|Lung SC(97;0.128)	131					Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	c.391T>C	CCDS32.1	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108678	0.20714	.	.	ENSG00000160075	ENST00000291386;ENST00000378726	T	0.39406	1.08	4.75	4.75	0.60458	.	0.168037	0.53938	D	0.000055	T	0.39517	0.1081	L	0.35487	1.065	0.80722	D	1	P;P	0.41910	0.764;0.554	P;B	0.47075	0.536;0.241	T	0.11690	-1.0577	10	0.25106	T	0.35	-7.9583	13.0828	0.59123	1.0:0.0:0.0:0.0	.	131;131	B4DMK6;Q9NP77	.;SSU72_HUMAN	R	131;48	ENSP00000291386:C131R	ENSP00000291386:C131R	C	-	1	0	SSU72	1469204	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.922000	0.63404	1.784000	0.52394	0.533000	0.62120	TGC		0.557	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		6	30	0	0	0	1	0	6	30				
CHSY1	22856	broad.mit.edu	37	15	101718648	101718648	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:101718648G>A	ENST00000254190.3	-	3	1829	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	452	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TACAGAAGCAGCAGGTCCAGG	0.517																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1354-1356)Ctg>Ttg		chondroitin sulfate synthase 1							51.0	50.0	51.0					15																	101718648		2203	4300	6503	SO:0001819	synonymous_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718648G>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1354C>T	15.37:g.101718648G>A						CHSY1_ENST00000543813.1_5'UTR	p.L452L	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	1829	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		452			Poly-Leu.		Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	c.1354C>T	CCDS10390.1																																																																																				0.517	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		11	45	0	0	0	1	0	11	45				
REV3L	5980	broad.mit.edu	37	6	111695045	111695045	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111695045C>A	ENST00000358835.3	-	14	4967	c.4513G>T	c.(4513-4515)Gca>Tca	p.A1505S	REV3L_ENST00000368802.3_Missense_Mutation_p.A1505S|REV3L_ENST00000368805.1_Missense_Mutation_p.A1505S|REV3L_ENST00000435970.1_Missense_Mutation_p.A1427S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1505					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAGAAAGTGCTTTGGTTTGT	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4279-4281)Gca>Tca	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							163.0	156.0	158.0					6																	111695045		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695045C>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4513G>T	6.37:g.111695045C>A	ENSP00000351697:p.Ala1505Ser					REV3L_ENST00000358835.3_Missense_Mutation_p.A1505S|REV3L_ENST00000368805.1_Missense_Mutation_p.A1505S|REV3L_ENST00000368802.3_Missense_Mutation_p.A1505S	p.A1427S			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5095	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1505					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4279G>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837416	0.16891	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.88;4.88;4.88;4.78	6.04	5.18	0.71444	Ribonuclease H-like (1);	0.247933	0.34338	N	0.004060	T	0.00967	0.0032	L	0.55481	1.735	0.35357	D	0.787872	B	0.21071	0.051	B	0.21917	0.037	T	0.45673	-0.9245	10	0.46703	T	0.11	-6.4676	7.1546	0.25630	0.1213:0.678:0.1309:0.0698	.	1505	O60673	DPOLZ_HUMAN	S	1505;1505;1505;1427	ENSP00000357792:A1505S;ENSP00000357795:A1505S;ENSP00000351697:A1505S;ENSP00000402003:A1427S	ENSP00000351697:A1505S	A	-	1	0	REV3L	111801738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.423000	0.34837	1.568000	0.49683	0.563000	0.77884	GCA		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		38	71	1	0	4.14481e-20	1	4.59174e-20	38	71				
C9orf69	90120	broad.mit.edu	37	9	139008328	139008328	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139008328C>T	ENST00000418388.1	-	2	921	c.419G>A	c.(418-420)tGa>tAa	p.*140*	C9orf69_ENST00000561457.1_3'UTR			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	0					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		CCACGGCCCTCACATGTCCAC	0.647																																						ENST00000418388.1																			0				endometrium(1)	1						c.(418-420)tGa>tAa		chromosome 9 open reading frame 69																																				SO:0001819	synonymous_variant	90120							g.chr9:139008328C>T		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.419G>A	9.37:g.139008328C>T						C9orf69_ENST00000561457.1_3'UTR	p.*140*						OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	921	-		Myeloproliferative disorder(178;0.0511)							Silent	SNP	ENST00000418388.1	37	c.419G>A	CCDS59155.1																																																																																				0.647	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		4	5	0	0	0	1	0	4	5				
ADAMTSL3	57188	broad.mit.edu	37	15	84685161	84685161	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:84685161G>A	ENST00000286744.5	+	25	4407	c.4183G>A	c.(4183-4185)Gta>Ata	p.V1395I	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1395I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1395						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGTAGAATCGTATTTCTGCA	0.423																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4183-4185)Gta>Ata		ADAMTS-like 3							93.0	82.0	86.0					15																	84685161		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84685161G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4183G>A	15.37:g.84685161G>A	ENSP00000286744:p.Val1395Ile					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1395I	p.V1395I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		25	4407	+			1395					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4183G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748707	0.15710	.	.	ENSG00000156218	ENST00000286744	T	0.64438	-0.1	4.83	-0.0975	0.13632	.	1.198360	0.06526	N	0.740628	T	0.32526	0.0832	N	0.04508	-0.205	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.09377	0.004;0.001	T	0.14811	-1.0459	10	0.18276	T	0.48	.	2.0183	0.03503	0.2045:0.1556:0.4813:0.1586	.	1395;1395	P82987-2;P82987	.;ATL3_HUMAN	I	1395	ENSP00000286744:V1395I	ENSP00000286744:V1395I	V	+	1	0	ADAMTSL3	82476165	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	0.102000	0.15272	0.076000	0.16826	-0.224000	0.12420	GTA		0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	15	0	0	0	1	0	10	15				
CORO7	79585	broad.mit.edu	37	16	4410482	4410482	+	Missense_Mutation	SNP	C	C	T	rs201929828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4410482C>T	ENST00000251166.4	-	20	2130	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R662Q|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.R644Q|CORO7_ENST00000574025.1_Missense_Mutation_p.R577Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R442Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	662					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCTGTAGACCCGCACACGCCC	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15736	0.0		0.0	False		,,,				2504	0.0					ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1984-1986)cGg>cAg		coronin 7							36.0	40.0	39.0					16																	4410482		2193	4297	6490	SO:0001583	missense	79585							g.chr16:4410482C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1985G>A	16.37:g.4410482C>T	ENSP00000251166:p.Arg662Gln					CORO7_ENST00000574025.1_Missense_Mutation_p.R577Q|CORO7_ENST00000539968.1_Missense_Mutation_p.R442Q|CORO7_ENST00000537233.2_Missense_Mutation_p.R644Q|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R662Q|CORO7_ENST00000423908.2_3'UTR	p.R662Q	NM_024535.4	NP_078811.3					20	2130	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1985G>A	CCDS10513.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	32	5.107602	0.94292	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.67865	-0.29;-0.29	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;0.999;1.0;0.999	D;P;P;D;D	0.87578	0.966;0.864;0.898;0.998;0.932	D	0.83900	0.0289	10	0.87932	D	0	-18.1388	18.2721	0.90071	0.0:1.0:0.0:0.0	.	577;644;442;662;643	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	Q	662;577;442	ENSP00000251166:R662Q;ENSP00000446221:R442Q	ENSP00000251166:R662Q	R	-	2	0	CORO7	4350483	1.000000	0.71417	0.994000	0.49952	0.480000	0.33159	6.999000	0.76283	2.412000	0.81896	0.462000	0.41574	CGG		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		4	7	0	0	0	1	0	4	7				
ABCA7	10347	broad.mit.edu	37	19	1057328	1057328	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1057328C>T	ENST00000263094.6	+	35	5011	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	ABCA7_ENST00000435683.2_Missense_Mutation_p.P1456S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1594S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1594					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTTGGTGCCAGCATGCAT	0.557																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4780-4782)Cca>Tca		ATP-binding cassette, sub-family A (ABC1), member 7							247.0	202.0	217.0					19																	1057328		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1057328C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4780C>T	19.37:g.1057328C>T	ENSP00000263094:p.Pro1594Ser					ABCA7_ENST00000435683.2_Missense_Mutation_p.P1456S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1594S	p.P1594S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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)	35	5011	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1594					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4780C>T	CCDS12055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311483|1.311483	0.23821|0.23821	.|.	.|.	ENSG00000064687|ENSG00000064687	ENST00000525073|ENST00000263094;ENST00000433129	.|D;D	.|0.87650	.|-2.28;-2.28	3.65|3.65	-7.3|-7.3	0.01446|0.01446	.|.	.|.	.|.	.|.	.|.	T|T	0.74696|0.74696	0.3750|0.3750	L|L	0.39692|0.39692	1.235|1.235	0.27406|0.27406	N|N	0.954722|0.954722	.|B;B	.|0.19935	.|0.02;0.04	.|B;B	.|0.31101	.|0.124;0.086	T|T	0.62210|0.62210	-0.6902|-0.6902	5|9	.|0.13108	.|T	.|0.6	.|.	1.6483|1.6483	0.02766|0.02766	0.1185:0.3802:0.162:0.3392|0.1185:0.3802:0.162:0.3392	.|.	.|719;1594	.|D6W5Y0;Q8IZY2	.|.;ABCA7_HUMAN	V|S	43|1594	.|ENSP00000263094:P1594S;ENSP00000414062:P1594S	.|ENSP00000263094:P1594S	A|P	+|+	2|1	0|0	ABCA7|ABCA7	1008328|1008328	0.016000|0.016000	0.18221|0.18221	0.017000|0.017000	0.16124|0.16124	0.894000|0.894000	0.52154|0.52154	0.209000|0.209000	0.17435|0.17435	-1.545000|-1.545000	0.01719|0.01719	-0.424000|-0.424000	0.05967|0.05967	GCC|CCA		0.557	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		59	98	0	0	0	1	0	59	98				
POLG2	11232	broad.mit.edu	37	17	62493082	62493082	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62493082C>T	ENST00000539111.2	-	1	72	c.5G>A	c.(4-6)cGc>cAc	p.R2H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	2					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACACGAGAGCGCATCTCTCT	0.587																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(4-6)cGc>cAc		polymerase (DNA directed), gamma 2, accessory subunit							47.0	45.0	46.0					17																	62493082		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62493082C>T	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.5G>A	17.37:g.62493082C>T	ENSP00000442563:p.Arg2His						p.R2H	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	72	-	Breast(5;2.15e-14)		2					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.5G>A	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860425	0.71834	.	.	ENSG00000256525	ENST00000539111	D	0.89050	-2.46	4.15	1.92	0.25849	.	0.425707	0.20695	N	0.087400	T	0.81498	0.4835	L	0.43152	1.355	0.25846	N	0.983999	B;B	0.15473	0.013;0.002	B;B	0.06405	0.002;0.002	T	0.73161	-0.4070	10	0.87932	D	0	-8.2095	4.7006	0.12825	0.0:0.5385:0.2524:0.2091	.	2;2	E5KS15;Q9UHN1	.;DPOG2_HUMAN	H	2	ENSP00000442563:R2H	ENSP00000442563:R2H	R	-	2	0	POLG2	59923544	0.956000	0.32656	0.902000	0.35471	0.140000	0.21249	1.498000	0.35660	1.081000	0.41110	0.561000	0.74099	CGC		0.587	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		7	20	0	0	0	1	0	7	20				
TXNDC2	84203	broad.mit.edu	37	18	9887552	9887552	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9887552T>C	ENST00000306084.6	+	2	1275	c.1076T>C	c.(1075-1077)aTc>aCc	p.I359T	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.I292T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	359	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGGGTGACATCCCCAAGTCC	0.567																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1075-1077)aTc>aCc		thioredoxin domain containing 2 (spermatozoa)							151.0	141.0	144.0					18																	9887552		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887552T>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1076T>C	18.37:g.9887552T>C	ENSP00000304908:p.Ile359Thr					TXNDC2_ENST00000357775.4_Missense_Mutation_p.I292T|TXNDC2_ENST00000536353.2_3'UTR	p.I359T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1275	+			359			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1076T>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	0.818	-0.749789	0.03041	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	4.01	-4.61	0.03380	.	.	.	.	.	T	0.07908	0.0198	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36407	-0.9749	8	.	.	.	-1.5154	3.0643	0.06210	0.1114:0.2592:0.112:0.5173	.	359	Q86VQ3	TXND2_HUMAN	T	157;292;359;344	ENSP00000350419:I292T;ENSP00000304908:I359T	.	I	+	2	0	TXNDC2	9877552	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.793000	0.00365	-1.473000	0.01881	-1.333000	0.01266	ATC		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			23	43	0	0	0	1	0	23	43				
EIF2D	1939	broad.mit.edu	37	1	206782805	206782805	+	Silent	SNP	C	C	T	rs567075839		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206782805C>T	ENST00000271764.2	-	3	463	c.255G>A	c.(253-255)acG>acA	p.T85T	EIF2D_ENST00000367114.3_Silent_p.T85T	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	85					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGGACCACAGCGTGTACACTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		19801	0.0		0.0	False		,,,				2504	0.001					ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(253-255)acG>acA		eukaryotic translation initiation factor 2D							126.0	113.0	118.0					1																	206782805		2203	4300	6503	SO:0001819	synonymous_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206782805C>T	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.255G>A	1.37:g.206782805C>T						EIF2D_ENST00000367114.3_Silent_p.T85T	p.T85T	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			3	463	-			85					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.255G>A	CCDS1465.1																																																																																				0.423	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		8	46	0	0	0	1	0	8	46				
ECI2	10455	broad.mit.edu	37	6	4130661	4130661	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4130661C>T	ENST00000380118.3	-	4	482	c.446G>A	c.(445-447)gGc>gAc	p.G149D	ECI2_ENST00000361538.2_Missense_Mutation_p.G119D|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.G119D|ECI2_ENST00000465828.1_Missense_Mutation_p.G119D|ECI2_ENST00000413766.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	149					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTTTGTGATGCCATCTTCGGA	0.453																																						ENST00000465828.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						c.(355-357)gGc>gAc		enoyl-CoA delta isomerase 2							199.0	172.0	181.0					6																	4130661		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4130661C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.446G>A	6.37:g.4130661C>T	ENSP00000369461:p.Gly149Asp					ECI2_ENST00000361538.2_Missense_Mutation_p.G119D|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.G119D|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.G149D	p.G119D			O75521	ECI2_HUMAN			4	641	-			149	S -> C (in Ref. 2; CAB66577).		ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.356G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927206	0.52759	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.51817	0.72;0.72;0.72;0.72;0.69	5.95	3.93	0.45458	.	0.361176	0.32987	N	0.005419	T	0.41673	0.1169	M	0.93550	3.43	0.80722	D	1	B	0.32101	0.356	B	0.34138	0.176	T	0.53927	-0.8369	10	0.48119	T	0.1	.	5.5525	0.17099	0.0:0.6753:0.0:0.3247	.	149	O75521	ECI2_HUMAN	D	149;119;119;119;196	ENSP00000369461:G149D;ENSP00000369468:G119D;ENSP00000354737:G119D;ENSP00000420309:G119D;ENSP00000417459:G196D	ENSP00000354737:G119D	G	-	2	0	ECI2	4075660	0.481000	0.25941	0.960000	0.40013	0.895000	0.52256	0.747000	0.26290	1.502000	0.48669	0.655000	0.94253	GGC		0.453	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117		21	45	0	0	0	1	0	21	45				
LRRC8D	55144	broad.mit.edu	37	1	90399036	90399036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90399036C>T	ENST00000337338.5	+	3	816	c.409C>T	c.(409-411)Cga>Tga	p.R137*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R137*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	137					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCAACAGGTCGAAAAACAAA	0.413																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(409-411)Cga>Tga		leucine rich repeat containing 8 family, member D							62.0	62.0	62.0					1																	90399036		2203	4300	6503	SO:0001587	stop_gained	55144					integral to membrane	protein binding	g.chr1:90399036C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.409C>T	1.37:g.90399036C>T	ENSP00000338887:p.Arg137*					LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R137*	p.R137*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	816	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	137					D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	ENST00000337338.5	37	c.409C>T	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339757	0.60963	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000527156;ENST00000441269	.	.	.	6.07	3.15	0.36227	.	0.180808	0.37715	N	0.001961	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0625	0.71967	0.4913:0.5087:0.0:0.0	.	.	.	.	X	137	.	.	R	+	1	2	LRRC8D	90171624	0.997000	0.39634	0.993000	0.49108	0.933000	0.57130	2.830000	0.48136	0.417000	0.25871	-1.028000	0.02416	CGA		0.413	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		24	21	0	0	0	1	0	24	21				
PLEC	5339	broad.mit.edu	37	8	144990902	144990902	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144990902G>A	ENST00000322810.4	-	32	13667	c.13498C>T	c.(13498-13500)Cgc>Tgc	p.R4500C	PLEC_ENST00000527096.1_Missense_Mutation_p.R4386C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4390C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4349C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4331C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4341C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4367C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4363C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4363C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4500	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTTGGTGCGTGGGTCCTCG	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13498-13500)Cgc>Tgc		plectin							44.0	48.0	47.0					8																	144990902		2082	4216	6298	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990902G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13498C>T	8.37:g.144990902G>A	ENSP00000323856:p.Arg4500Cys					PLEC_ENST00000436759.2_Missense_Mutation_p.R4390C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4331C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4349C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4367C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4363C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4386C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4363C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4341C	p.R4500C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13667	-			4500			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13498C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.584	0.882895	0.17467	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000007	T	0.71065	0.3296	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.74023	0.982;0.982;0.982;0.959;0.982;0.982;0.982;0.982	T	0.71922	-0.4446	10	0.54805	T	0.06	.	12.4017	0.55416	0.0:0.0:0.7188:0.2812	.	4390;4349;4341;4500;4331;4363;4367;4363	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4363;4367;4363;4331;4500;4341;4349;4390;4386	ENSP00000344848:R4363C;ENSP00000350277:R4367C;ENSP00000346602:R4363C;ENSP00000381756:R4331C;ENSP00000323856:R4500C;ENSP00000347044:R4341C;ENSP00000348702:R4349C;ENSP00000388180:R4390C;ENSP00000434583:R4386C	ENSP00000323856:R4500C	R	-	1	0	PLEC	145062890	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	4.703000	0.61824	2.693000	0.91896	0.643000	0.83706	CGC		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	35	0	0	0	1	0	15	35				
CHD9	80205	broad.mit.edu	37	16	53358594	53358594	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53358594A>G	ENST00000398510.3	+	38	8568	c.8481A>G	c.(8479-8481)gtA>gtG	p.V2827V	CHD9_ENST00000564845.1_Silent_p.V2811V|CHD9_ENST00000566029.1_Silent_p.V2811V|CHD9_ENST00000447540.1_Silent_p.V2812V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2827					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTTTGATGTACAAAACAAAA	0.373																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8431-8433)gtA>gtG		chromodomain helicase DNA binding protein 9							64.0	56.0	58.0					16																	53358594		1837	4088	5925	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358594A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8481A>G	16.37:g.53358594A>G						CHD9_ENST00000398510.3_Silent_p.V2827V|CHD9_ENST00000564845.1_Silent_p.V2811V|CHD9_ENST00000447540.1_Silent_p.V2812V	p.V2811V			Q3L8U1	CHD9_HUMAN			39	8642	+		all_cancers(37;0.0212)	2827					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.8433A>G																																																																																					0.373	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		5	7	0	0	0	1	0	5	7				
NR1H3	10062	broad.mit.edu	37	11	47283152	47283152	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47283152G>A	ENST00000467728.1	+	5	2001	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NR1H3_ENST00000395397.3_Missense_Mutation_p.A210T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A210T|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000441012.2_Missense_Mutation_p.A255T|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	255	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCAGCGCTTTGCCCACTTCAC	0.587																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(763-765)Gcc>Acc		nuclear receptor subfamily 1, group H, member 3							70.0	69.0	69.0					11																	47283152		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283152G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.763G>A	11.37:g.47283152G>A	ENSP00000420656:p.Ala255Thr					NR1H3_ENST00000395397.3_Missense_Mutation_p.A210T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A255T|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Missense_Mutation_p.A210T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Intron	p.A255T			Q13133	NR1H3_HUMAN			5	2001	+			255			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.763G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674716	0.88445	.	.	ENSG00000025434	ENST00000395397;ENST00000481889;ENST00000441012;ENST00000467728	D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08	5.77	4.86	0.63082	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.048398	0.85682	D	0.000000	D	0.96713	0.8927	L	0.39245	1.2	0.80722	D	1	P;D;D	0.89917	0.955;0.99;1.0	P;D;D	0.81914	0.696;0.958;0.995	D	0.96408	0.9302	10	0.39692	T	0.17	.	15.2561	0.73585	0.0675:0.0:0.9325:0.0	.	261;255;210	B4DXU5;Q13133;E9PLL4	.;NR1H3_HUMAN;.	T	210;210;255;255	ENSP00000378793:A210T;ENSP00000433271:A210T;ENSP00000387946:A255T;ENSP00000420656:A255T	ENSP00000378793:A210T	A	+	1	0	NR1H3	47239728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.581000	0.49865	0.655000	0.94253	GCC		0.587	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			19	25	0	0	0	1	0	19	25				
SLC14A2	8170	broad.mit.edu	37	18	43253660	43253660	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43253660C>T	ENST00000255226.6	+	18	3206	c.2390C>T	c.(2389-2391)gCg>gTg	p.A797V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.A797V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A274V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	797					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCACTATTGCGACGCCCTTT	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2389-2391)gCg>gTg		solute carrier family 14 (urea transporter), member 2							134.0	96.0	109.0					18																	43253660		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43253660C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2390C>T	18.37:g.43253660C>T	ENSP00000255226:p.Ala797Val					RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A797V|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A274V	p.A797V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			18	3206	+			797					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2390C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972316	0.92919	.	.	ENSG00000132874	ENST00000255226	T	0.53206	0.63	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000018	T	0.74846	0.3770	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78540	-0.2165	10	0.87932	D	0	-27.2887	19.9421	0.97168	0.0:1.0:0.0:0.0	.	797	Q15849	UT2_HUMAN	V	797	ENSP00000255226:A797V	ENSP00000255226:A797V	A	+	2	0	SLC14A2	41507658	1.000000	0.71417	0.242000	0.24170	0.133000	0.20885	5.714000	0.68422	2.714000	0.92807	0.561000	0.74099	GCG		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			12	25	0	0	0	1	0	12	25				
TRPV5	56302	broad.mit.edu	37	7	142605796	142605796	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142605796C>T	ENST00000265310.1	-	15	2422	c.2074G>A	c.(2074-2076)Gcg>Acg	p.A692T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	692					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCTGGGACGCGGTCCGGGAC	0.582																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(2074-2076)Gcg>Acg		transient receptor potential cation channel, subfamily V, member 5							81.0	77.0	78.0					7																	142605796		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605796C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2074G>A	7.37:g.142605796C>T	ENSP00000265310:p.Ala692Thr						p.A692T	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			15	2422	-	Melanoma(164;0.059)		692					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.2074G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	3.849	-0.032164	0.07543	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.77620	-1.11;-1.06	4.99	3.84	0.44239	.	0.633246	0.16506	N	0.211430	T	0.35219	0.0924	N	0.00151	-1.98	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47509	-0.9112	10	0.02654	T	1	-14.6655	8.5823	0.33637	0.0:0.087:0.0:0.913	.	692	Q9NQA5	TRPV5_HUMAN	T	692;637	ENSP00000265310:A692T;ENSP00000406361:A637T	ENSP00000265310:A692T	A	-	1	0	TRPV5	142315918	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	2.727000	0.47311	0.951000	0.37770	-0.238000	0.12139	GCG		0.582	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		22	24	0	0	0	1	0	22	24				
NOD2	64127	broad.mit.edu	37	16	50750840	50750840	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50750840C>T	ENST00000300589.2	+	6	2690	c.2585C>T	c.(2584-2586)tCc>tTc	p.S862F		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	862					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTGCACACTCCATGGCTAAG	0.468																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2584-2586)tCc>tTc		nucleotide-binding oligomerization domain containing 2							193.0	183.0	186.0					16																	50750840		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50750840C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2585C>T	16.37:g.50750840C>T	ENSP00000300589:p.Ser862Phe						p.S862F	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			6	2690	+		all_cancers(37;0.0156)	862					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2585C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.088943	0.08583	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.54071	0.59	5.76	5.76	0.90799	.	0.526691	0.19907	N	0.103388	T	0.58395	0.2119	M	0.65975	2.015	0.36011	D	0.83808	P	0.52170	0.951	P	0.49953	0.627	T	0.59726	-0.7400	10	0.11182	T	0.66	.	15.4789	0.75508	0.0:1.0:0.0:0.0	.	862	Q9HC29	NOD2_HUMAN	F	835;862	ENSP00000300589:S862F	ENSP00000300589:S862F	S	+	2	0	NOD2	49308341	0.646000	0.27295	0.608000	0.28969	0.109000	0.19521	3.539000	0.53604	2.719000	0.93026	0.555000	0.69702	TCC		0.468	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		48	61	0	0	0	1	0	48	61				
OR2A12	346525	broad.mit.edu	37	7	143793006	143793006	+	Missense_Mutation	SNP	G	G	A	rs373620683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143793006G>A	ENST00000408949.2	+	1	866	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(805-807)cGg>cAg		olfactory receptor, family 2, subfamily A, member 12		A	GLN/ARG	0,3816		0,0,1908	194.0	186.0	188.0		806	4.3	0.0	7		188	1,8275		0,1,4137	no	missense	OR2A12	NM_001004135.1	43	0,1,6045	AA,AG,GG		0.0121,0.0,0.0083	benign	269/311	143793006	1,12091	1908	4138	6046	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793006G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.806G>A	7.37:g.143793006G>A	ENSP00000386174:p.Arg269Gln						p.R269Q	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	866	+	Melanoma(164;0.0783)		269					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.806G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.353001	0.01256	0.0	1.21E-4	ENSG00000221858	ENST00000408949	T	0.00044	8.83	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00656	-1.285	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17107	-1.0380	9	0.02654	T	1	-8.4336	5.8903	0.18909	0.7909:0.0:0.2091:0.0	.	269	Q8NGT7	O2A12_HUMAN	Q	269	ENSP00000386174:R269Q	ENSP00000386174:R269Q	R	+	2	0	OR2A12	143423939	0.000000	0.05858	0.044000	0.18714	0.620000	0.37586	0.013000	0.13310	0.703000	0.31848	-0.471000	0.05019	CGG		0.527	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			83	139	0	0	0	1	0	83	139				
ASB12	142689	broad.mit.edu	37	X	63444983	63444983	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63444983C>T	ENST00000396130.2	-	1	520	c.521G>A	c.(520-522)gGc>gAc	p.G174D	MTMR8_ENST00000453546.1_Missense_Mutation_p.G558D|ASB12_ENST00000362002.2_Missense_Mutation_p.G183D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						ATAGAGGGGGCCAGAACATGA	0.562																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1672-1674)gGc>gAc		myotubularin related protein 8							76.0	68.0	71.0					X																	63444983		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444983C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.521G>A	X.37:g.63444983C>T	ENSP00000379435:p.Gly174Asp					ASB12_ENST00000396130.2_Missense_Mutation_p.G174D|ASB12_ENST00000362002.2_Missense_Mutation_p.G183D	p.G558D			Q96EF0	MTMR8_HUMAN			10	1762	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1673G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.066306	0.76187	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.76578	0.01;0.04;-1.03	4.0	4.0	0.46444	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	L	0.27053	0.805	0.36377	D	0.861693	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85746	0.1340	10	0.66056	D	0.02	-2.8088	14.2368	0.65932	0.0:1.0:0.0:0.0	.	558;174	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	183;174;183;558	ENSP00000355195:G183D;ENSP00000379435:G174D;ENSP00000394003:G558D	ENSP00000354626:G183D	G	-	2	0	ASB12;MTMR8	63361708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.023000	0.76437	1.986000	0.57962	0.468000	0.43344	GGC		0.562	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	15	0	0	0	1	0	3	15				
SLTM	79811	broad.mit.edu	37	15	59209144	59209144	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59209144G>A	ENST00000380516.2	-	3	392	c.305C>T	c.(304-306)gCt>gTt	p.A102V	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	102					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGATAAAAGCATCATCTTC	0.338																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(304-306)gCt>gTt		SAFB-like, transcription modulator							111.0	99.0	103.0					15																	59209144		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59209144G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.305C>T	15.37:g.59209144G>A	ENSP00000369887:p.Ala102Val					SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	p.A102V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			3	392	-			102					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.305C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557560	0.45590	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.12569	2.67;2.67	6.03	3.16	0.36331	.	1.126930	0.06737	N	0.777736	T	0.12987	0.0315	L	0.36672	1.1	0.80722	D	1	B;B	0.20052	0.041;0.0	B;B	0.19391	0.025;0.0	T	0.06643	-1.0815	10	0.87932	D	0	.	6.1277	0.20187	0.1402:0.0:0.7058:0.154	.	102;102	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	V	102	ENSP00000369887:A102V;ENSP00000249736:A102V	ENSP00000249736:A102V	A	-	2	0	SLTM	56996436	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	5.407000	0.66363	0.444000	0.26612	-0.169000	0.13324	GCT		0.338	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		12	28	0	0	0	1	0	12	28				
WNK4	65266	broad.mit.edu	37	17	40933278	40933278	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40933278G>A	ENST00000246914.5	+	1	583	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAAGACGGTGTATCGAGG	0.607																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(562-564)Gtg>Atg		WNK lysine deficient protein kinase 4							107.0	78.0	88.0					17																	40933278		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40933278G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.562G>A	17.37:g.40933278G>A	ENSP00000246914:p.Val188Met						p.V188M	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	583	+		Breast(137;0.000143)	188			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.562G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550349	0.96501	.	.	ENSG00000126562	ENST00000246914	T	0.61392	0.11	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000395	D	0.86045	0.5839	H	0.98446	4.235	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.91511	0.5227	10	0.87932	D	0	-19.0501	18.6692	0.91504	0.0:0.0:1.0:0.0	.	188	Q96J92	WNK4_HUMAN	M	188	ENSP00000246914:V188M	ENSP00000246914:V188M	V	+	1	0	WNK4	38186804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.816000	0.86201	2.638000	0.89438	0.563000	0.77884	GTG		0.607	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			5	35	0	0	0	1	0	5	35				
HECTD4	283450	broad.mit.edu	37	12	112672997	112672997	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112672997G>A	ENST00000430131.2	-	36	5678	c.4533C>T	c.(4531-4533)tcC>tcT	p.S1511S	HECTD4_ENST00000550722.1_Silent_p.S1787S|HECTD4_ENST00000377560.5_Silent_p.S1761S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1511					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTCCTTTCAAGGAATTCTTGG	0.448																																						ENST00000550722.1																			0											c.(5359-5361)tcC>tcT		HECT domain containing E3 ubiquitin protein ligase 4							89.0	87.0	87.0					12																	112672997		1883	4113	5996	SO:0001819	synonymous_variant	283450							g.chr12:112672997G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4533C>T	12.37:g.112672997G>A						HECTD4_ENST00000377560.5_Silent_p.S1761S|HECTD4_ENST00000430131.2_Silent_p.S1511S	p.S1787S	NM_001109662.3	NP_001103132.3					37	5756	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5361C>T																																																																																					0.448	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		9	19	0	0	0	1	0	9	19				
SLC19A3	80704	broad.mit.edu	37	2	228563579	228563579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228563579C>T	ENST00000258403.3	-	3	923	c.852G>A	c.(850-852)tgG>tgA	p.W284*	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.W280*	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	284					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGAAAGCCCACCATAGAGACC	0.458																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(850-852)tgG>tgA		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82.0	82.0	82.0					2																	228563579		2203	4300	6503	SO:0001587	stop_gained	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563579C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.852G>A	2.37:g.228563579C>T	ENSP00000258403:p.Trp284*					SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.W280*|SLC19A3_ENST00000409287.1_Intron	p.W284*	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	923	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	284						Nonsense_Mutation	SNP	ENST00000258403.3	37	c.852G>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	37	6.218941	0.97385	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.024	19.9596	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	284;280	.	ENSP00000258403:W284X	W	-	3	0	SLC19A3	228271823	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.487000	0.81328	2.726000	0.93360	0.655000	0.94253	TGG		0.458	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			26	39	0	0	0	1	0	26	39				
CAPN2	824	broad.mit.edu	37	1	223943318	223943318	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223943318G>T	ENST00000295006.5	+	10	1581	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	CAPN2_ENST00000433674.2_Missense_Mutation_p.E346D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	424	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGATGGGCGAGGACATGCACA	0.617																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1270-1272)gaG>gaT		calpain 2, (m/II) large subunit							120.0	95.0	103.0					1																	223943318		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943318G>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1272G>T	1.37:g.223943318G>T	ENSP00000295006:p.Glu424Asp					CAPN2_ENST00000433674.2_Missense_Mutation_p.E346D	p.E424D	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1581	+			424			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1272G>T	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031160	0.54790	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88586	-2.4;-2.4	5.05	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.220935	0.46442	D	0.000281	D	0.88955	0.6578	M	0.66439	2.03	0.80722	D	1	B;B	0.20780	0.005;0.048	B;B	0.28784	0.015;0.094	D	0.85342	0.1096	10	0.30854	T	0.27	.	18.7897	0.91968	0.0:0.0:1.0:0.0	.	346;424	B7ZA96;P17655	.;CAN2_HUMAN	D	346;424;453	ENSP00000413158:E346D;ENSP00000295006:E424D	ENSP00000295006:E424D	E	+	3	2	CAPN2	222009941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.239000	0.51360	2.507000	0.84556	0.563000	0.77884	GAG		0.617	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		4	19	1	0	0.00024832	1	0.000253518	4	19				
GANC	2595	broad.mit.edu	37	15	42632023	42632023	+	Missense_Mutation	SNP	G	G	A	rs369979153		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42632023G>A	ENST00000318010.8	+	17	2240	c.2000G>A	c.(1999-2001)cGa>cAa	p.R667Q		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	667					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	CGACTCATCCGAGAAGCCATC	0.557																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1999-2001)cGa>cAa		glucosidase, alpha; neutral C		G	GLN/ARG	0,4406		0,0,2203	65.0	51.0	55.0		2000	5.1	1.0	15		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	GANC	NM_198141.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	667/915	42632023	1,13003	2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632023G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2000G>A	15.37:g.42632023G>A	ENSP00000326227:p.Arg667Gln						p.R667Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2240	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	667					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2000G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484804	0.84854	0.0	1.16E-4	ENSG00000214013	ENST00000318010	D	0.93076	-3.16	6.02	5.11	0.69529	Glycoside hydrolase, superfamily (1);	0.119532	0.52532	D	0.000064	D	0.96790	0.8952	M	0.90542	3.125	0.58432	D	0.999997	D	0.76494	0.999	D	0.71870	0.975	D	0.96872	0.9640	10	0.56958	D	0.05	-1.53	11.5743	0.50852	0.1362:0.0:0.8638:0.0	.	667	Q8TET4	GANC_HUMAN	Q	667	ENSP00000326227:R667Q	ENSP00000326227:R667Q	R	+	2	0	GANC	40419315	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	6.699000	0.74613	1.558000	0.49541	0.650000	0.86243	CGA		0.557	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		17	22	0	0	0	1	0	17	22				
NPAS4	266743	broad.mit.edu	37	11	66190620	66190620	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66190620G>A	ENST00000311034.2	+	5	901	c.725G>A	c.(724-726)cGc>cAc	p.R242H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	242	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCTTTGAGCGCAGTGAACTG	0.542																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(724-726)cGc>cAc		neuronal PAS domain protein 4							111.0	86.0	94.0					11																	66190620		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190620G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.725G>A	11.37:g.66190620G>A	ENSP00000311196:p.Arg242His						p.R242H	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			5	901	+			242			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.725G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726712	0.48833	.	.	ENSG00000174576	ENST00000311034	T	0.18502	2.21	5.65	4.71	0.59529	PAS fold-3 (1);PAS (2);	0.116186	0.37095	N	0.002260	T	0.14743	0.0356	L	0.43923	1.385	0.37304	D	0.908813	B	0.06786	0.001	B	0.06405	0.002	T	0.06661	-1.0814	10	0.62326	D	0.03	-3.4567	7.6781	0.28497	0.1989:0.0:0.8011:0.0	.	242	Q8IUM7	NPAS4_HUMAN	H	242	ENSP00000311196:R242H	ENSP00000311196:R242H	R	+	2	0	NPAS4	65947196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	1.304000	0.44892	0.650000	0.86243	CGC		0.542	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		16	17	0	0	0	1	0	16	17				
MCMBP	79892	broad.mit.edu	37	10	121586586	121586586	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:121586586C>T	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.A898V|INPP5F_ENST00000369080.3_Missense_Mutation_p.A288V	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATTGCCTCAGCGCCTCGATTG	0.468																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2692-2694)gCg>gTg		inositol polyphosphate-5-phosphatase F							145.0	117.0	126.0					10																	121586586		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586586C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586586C>T						INPP5F_ENST00000369080.3_Missense_Mutation_p.A288V	p.A898V	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	2859	+		Lung NSC(174;0.109)|all_lung(145;0.142)	898					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2693C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268420	0.23136	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.50548	0.99;0.74	5.92	3.05	0.35203	.	0.177493	0.49916	D	0.000132	T	0.28732	0.0712	N	0.19112	0.55	0.80722	D	1	B;B	0.20550	0.046;0.008	B;B	0.12156	0.007;0.002	T	0.05209	-1.0899	10	0.42905	T	0.14	-5.1342	6.7686	0.23581	0.0:0.671:0.1273:0.2017	.	288;898	Q5W135;Q9Y2H2	.;SAC2_HUMAN	V	898;288	ENSP00000354519:A898V;ENSP00000358076:A288V	ENSP00000354519:A898V	A	+	2	0	INPP5F	121576576	0.930000	0.31532	0.944000	0.38274	0.525000	0.34531	1.964000	0.40462	0.397000	0.25310	0.655000	0.94253	GCG		0.468	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		21	52	0	0	0	1	0	21	52				
ASCL4	121549	broad.mit.edu	37	12	108169399	108169399	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108169399T>C	ENST00000342331.4	+	1	1238	c.407T>C	c.(406-408)cTc>cCc	p.L136P		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	135					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCCTGGGGGCTCGAGGGCGCG	0.706																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(406-408)cTc>cCc		achaete-scute family bHLH transcription factor 4							5.0	7.0	6.0					12																	108169399		2026	4012	6038	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169399T>C	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.407T>C	12.37:g.108169399T>C	ENSP00000345420:p.Leu136Pro						p.L136P	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1238	+			135					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.407T>C	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	T	3.270	-0.149270	0.06585	.	.	ENSG00000187855	ENST00000342331	D	0.89196	-2.48	3.81	-7.62	0.01294	Helix-loop-helix DNA-binding (1);	29.383200	0.01029	N	0.004110	T	0.68815	0.3042	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65429	-0.6170	10	0.30078	T	0.28	-28.6862	3.1025	0.06330	0.1692:0.4401:0.1334:0.2573	.	135	Q6XD76	ASCL4_HUMAN	P	136	ENSP00000345420:L136P	ENSP00000345420:L136P	L	+	2	0	ASCL4	106693529	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.150000	0.10189	-2.715000	0.00391	-0.696000	0.03686	CTC		0.706	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		3	6	0	0	0	1	0	3	6				
CPLX2	10814	broad.mit.edu	37	5	175306900	175306900	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175306900T>A	ENST00000359546.4	+	5	900	c.257T>A	c.(256-258)cTg>cAg	p.L86Q	CPLX2_ENST00000515094.1_Missense_Mutation_p.L86Q|CPLX2_ENST00000393745.3_Missense_Mutation_p.L86Q	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	86	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGCAGCCCTGGAGCAGCCC	0.657																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(256-258)cTg>cAg		complexin 2							35.0	42.0	40.0					5																	175306900		2202	4300	6502	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306900T>A	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.257T>A	5.37:g.175306900T>A	ENSP00000352544:p.Leu86Gln					CPLX2_ENST00000393745.3_Missense_Mutation_p.L86Q|CPLX2_ENST00000515094.1_Missense_Mutation_p.L86Q	p.L86Q	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	900	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	86			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.257T>A	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	t	14.58	2.578575	0.46006	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000393746;ENST00000514150;ENST00000515094	.	.	.	5.38	5.38	0.77491	.	0.128343	0.52532	U	0.000075	T	0.62672	0.2447	L	0.42245	1.32	0.52501	D	0.999959	B	0.30406	0.278	B	0.43274	0.414	T	0.59830	-0.7380	9	0.28530	T	0.3	.	13.3679	0.60696	0.0:0.0:0.0:1.0	.	86	Q6PUV4	CPLX2_HUMAN	Q	86	.	ENSP00000352544:L86Q	L	+	2	0	CPLX2	175239506	1.000000	0.71417	0.983000	0.44433	0.501000	0.33797	7.927000	0.87577	2.048000	0.60808	0.451000	0.29950	CTG		0.657	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			6	14	0	0	0	1	0	6	14				
PPARD	5467	broad.mit.edu	37	6	35389649	35389649	+	Missense_Mutation	SNP	G	G	A	rs200111529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35389649G>A	ENST00000311565.4	+	6	687	c.338G>A	c.(337-339)cGc>cAc	p.R113H	PPARD_ENST00000418635.2_Intron|PPARD_ENST00000360694.3_Missense_Mutation_p.R113H|PPARD_ENST00000448077.2_Missense_Mutation_p.R74H|PPARD_ENST00000540939.1_Missense_Mutation_p.R10H|PPARD_ENST00000337400.2_Missense_Mutation_p.R113H|PPARD_ENST00000444397.1_Missense_Mutation_p.R113H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	113					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AAGTGTGAGCGCAGCTGCAAG	0.567																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(337-339)cGc>cAc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						95.0	84.0	88.0					6																	35389649		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35389649G>A	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.338G>A	6.37:g.35389649G>A	ENSP00000310928:p.Arg113His					PPARD_ENST00000337400.2_Missense_Mutation_p.R113H|PPARD_ENST00000540939.1_Missense_Mutation_p.R10H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.R74H|PPARD_ENST00000444397.1_Missense_Mutation_p.R113H|PPARD_ENST00000360694.3_Missense_Mutation_p.R113H	p.R113H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			6	687	+			113					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.338G>A	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585606	0.66105	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	4.5	4.5	0.54988	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.78801	2.425	0.80722	D	1	B;B;D	0.76494	0.309;0.314;0.999	B;B;D	0.64877	0.084;0.086;0.93	D	0.97415	1.0005	10	0.51188	T	0.08	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	74;113;113	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	H	74;113;113;113;113;10	ENSP00000414372:R74H;ENSP00000353916:R113H;ENSP00000410837:R113H;ENSP00000310928:R113H;ENSP00000337063:R113H;ENSP00000443759:R10H	ENSP00000310928:R113H	R	+	2	0	PPARD	35497627	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.660000	0.83776	2.325000	0.78763	0.561000	0.74099	CGC		0.567	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		17	19	0	0	0	1	0	17	19				
SLC26A9	115019	broad.mit.edu	37	1	205899137	205899137	+	Silent	SNP	G	G	A	rs553567883		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205899137G>A	ENST00000367135.3	-	6	713	c.600C>T	c.(598-600)tcC>tcT	p.S200S	SLC26A9_ENST00000340781.4_Silent_p.S200S|SLC26A9_ENST00000367134.2_Silent_p.S200S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	200					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGAAGGACTCGGAGAGGTAGA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20475	0.0		0.0	False		,,,				2504	0.001					ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(598-600)tcC>tcT		solute carrier family 26 (anion exchanger), member 9							72.0	62.0	65.0					1																	205899137		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205899137G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.600C>T	1.37:g.205899137G>A						SLC26A9_ENST00000367134.2_Silent_p.S200S|SLC26A9_ENST00000340781.4_Silent_p.S200S	p.S200S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		6	713	-	Breast(84;0.201)		200					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.600C>T	CCDS30990.1																																																																																				0.572	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		7	6	0	0	0	1	0	7	6				
IDH1	3417	broad.mit.edu	37	2	209104660	209104660	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209104660C>A	ENST00000415913.1	-	8	1299	c.918G>T	c.(916-918)gaG>gaT	p.E306D	IDH1_ENST00000446179.1_Missense_Mutation_p.E306D|IDH1_ENST00000345146.2_Missense_Mutation_p.E306D	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	306					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGTGGGCAGCCTCTGCTTCTA	0.522			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		0				NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(916-918)gaG>gaT		isocitrate dehydrogenase 1 (NADP+), soluble							149.0	118.0	129.0					2																	209104660		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104660C>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.918G>T	2.37:g.209104660C>A	ENSP00000390265:p.Glu306Asp					IDH1_ENST00000446179.1_Missense_Mutation_p.E306D|IDH1_ENST00000345146.2_Missense_Mutation_p.E306D	p.E306D			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1299	-			306					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.918G>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401635	0.83120	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	D;D;D	0.85411	-1.98;-1.98;-1.98	6.08	4.29	0.51040	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94666	0.8280	H	0.99261	4.49	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.93696	0.7011	10	0.87932	D	0	-13.759	5.8666	0.18779	0.0:0.66:0.0:0.34	.	306	O75874	IDHC_HUMAN	D	306	ENSP00000260985:E306D;ENSP00000410513:E306D;ENSP00000390265:E306D	ENSP00000260985:E306D	E	-	3	2	IDH1	208812905	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.060000	0.30530	1.592000	0.50018	-0.216000	0.12614	GAG		0.522	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	29	1	0	4.63292e-17	1	5.09502e-17	21	29				
CNDP2	55748	broad.mit.edu	37	18	72178055	72178055	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72178055C>A	ENST00000324262.4	+	6	780	c.464C>A	c.(463-465)cCt>cAt	p.P155H	CNDP2_ENST00000324301.8_Missense_Mutation_p.P71H|CNDP2_ENST00000579847.1_Missense_Mutation_p.P155H	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	155					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAGGAGATTCCTGTCAACGTC	0.498																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(463-465)cCt>cAt		CNDP dipeptidase 2 (metallopeptidase M20 family)							114.0	104.0	107.0					18																	72178055		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72178055C>A	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.464C>A	18.37:g.72178055C>A	ENSP00000325548:p.Pro155His					CNDP2_ENST00000579847.1_Missense_Mutation_p.P155H|CNDP2_ENST00000324301.8_Missense_Mutation_p.P71H	p.P155H	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	6	780	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	155					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.464C>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916010	0.52546	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.08984	3.03;3.03	6.17	6.17	0.99709	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60530	-0.7245	10	0.87932	D	0	-26.8813	20.8794	0.99867	0.0:1.0:0.0:0.0	.	71;155	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	H	155;71	ENSP00000325548:P155H;ENSP00000325756:P71H	ENSP00000325548:P155H	P	+	2	0	CNDP2	70329035	1.000000	0.71417	0.145000	0.22337	0.059000	0.15707	7.731000	0.84895	2.941000	0.99782	0.655000	0.94253	CCT		0.498	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		13	37	1	0	9.05144e-12	1	9.75833e-12	13	37				
MPO	4353	broad.mit.edu	37	17	56349138	56349138	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56349138C>T	ENST00000225275.3	-	11	2084	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	MPO_ENST00000340482.3_Silent_p.T668T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	636					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGTTGTTGGGCGTGCCATACT	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2002-2004)acG>acA		myeloperoxidase	Cefdinir(DB00535)						120.0	80.0	94.0					17																	56349138		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349138C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1908G>A	17.37:g.56349138C>T						MPO_ENST00000225275.3_Silent_p.T636T	p.T668T			P05164	PERM_HUMAN			10	2180	-			636					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.2004G>A	CCDS11604.1																																																																																				0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			26	33	0	0	0	1	0	26	33				
SH3BP2	6452	broad.mit.edu	37	4	2826453	2826453	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2826453G>A	ENST00000356331.5	+	4	614	c.353G>A	c.(352-354)cGc>cAc	p.R118H	SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAGGAGGAGCGCAAGGTGACT	0.632									Cherubism																													ENST00000356331.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(352-354)cGc>cAc		SH3-domain binding protein 2							62.0	58.0	59.0					4																	2826453		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2826453G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.353G>A	4.37:g.2826453G>A	ENSP00000348685:p.Arg118His					SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Missense_Mutation_p.R146H|SH3BP2_ENST00000452765.2_Missense_Mutation_p.R118H|SH3BP2_ENST00000503393.2_Missense_Mutation_p.R175H|SH3BP2_ENST00000511747.1_Missense_Mutation_p.R118H|SH3BP2_ENST00000435136.2_Missense_Mutation_p.R118H	p.R118H	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	614	+			118			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.353G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	22.5	4.297313	0.81025	.	.	ENSG00000087266	ENST00000452765;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051104	0.64402	D	0.000001	T	0.40272	0.1110	M	0.77313	2.365	0.80722	D	1	P;D;D;D	0.89917	0.93;1.0;0.993;0.972	P;D;P;P	0.85130	0.81;0.997;0.609;0.786	T	0.40117	-0.9580	10	0.66056	D	0.02	-21.0204	17.335	0.87277	0.0:0.0:1.0:0.0	.	146;146;175;118	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	H	118;118;118;118;118;118;146;118;118;118;175;118	ENSP00000409746:R118H;ENSP00000422796:R118H;ENSP00000423275:R118H;ENSP00000424917:R118H;ENSP00000424105:R118H;ENSP00000423823:R118H;ENSP00000388152:R146H;ENSP00000425537:R118H;ENSP00000403231:R118H;ENSP00000424846:R118H;ENSP00000422168:R175H;ENSP00000348685:R118H	ENSP00000348685:R118H	R	+	2	0	SH3BP2	2796251	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.813000	0.91963	2.266000	0.75297	0.645000	0.84053	CGC		0.632	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		14	19	0	0	0	1	0	14	19				
DMP1	1758	broad.mit.edu	37	4	88584147	88584147	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88584147G>T	ENST00000339673.6	+	6	1316	c.1217G>T	c.(1216-1218)aGc>aTc	p.S406I	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S390I|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	406					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAAGCAGACAGCGAATCCAGT	0.552																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1216-1218)aGc>aTc		dentin matrix acidic phosphoprotein 1							92.0	96.0	95.0					4																	88584147		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584147G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1217G>T	4.37:g.88584147G>T	ENSP00000340935:p.Ser406Ile					DMP1_ENST00000282479.7_Missense_Mutation_p.S390I|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	p.S406I	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1316	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	406					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1217G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261354	0.23051	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.54071	0.59;0.59	5.41	5.41	0.78517	.	0.251232	0.35207	N	0.003364	T	0.69842	0.3156	M	0.75447	2.3	0.35084	D	0.763714	D;D	0.89917	1.0;1.0	D;D	0.71184	0.952;0.972	T	0.79647	-0.1716	10	0.87932	D	0	-0.9843	11.7667	0.51935	0.0832:0.0:0.9168:0.0	.	390;406	Q13316-2;Q13316	.;DMP1_HUMAN	I	406;390	ENSP00000340935:S406I;ENSP00000282479:S390I	ENSP00000282479:S390I	S	+	2	0	DMP1	88803171	0.858000	0.29795	0.432000	0.26747	0.003000	0.03518	3.975000	0.56859	2.523000	0.85059	0.655000	0.94253	AGC		0.552	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			22	24	1	0	9.95505e-16	1	1.0907e-15	22	24				
NCKAP5L	57701	broad.mit.edu	37	12	50190190	50190190	+	Nonsense_Mutation	SNP	G	G	A	rs372725560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50190190G>A	ENST00000335999.6	-	8	1654	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	481	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGGGGATTCGCGAGTTCCGG	0.662																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1453-1455)Cga>Tga		NCK-associated protein 5-like		G	stop/ARG	1,3851		0,1,1925	12.0	14.0	13.0		1453	2.6	0.8	12		13	0,8272		0,0,4136	no	stop-gained	NCKAP5L	NM_001037806.3		0,1,6061	AA,AG,GG		0.0,0.026,0.0082		485/1335	50190190	1,12123	1926	4136	6062	SO:0001587	stop_gained	57701							g.chr12:50190190G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1453C>T	12.37:g.50190190G>A	ENSP00000337998:p.Arg485*						p.R485*	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	1654	-			481			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Nonsense_Mutation	SNP	ENST00000335999.6	37	c.1453C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.863428|5.863428	0.97043|0.97043	2.6E-4|2.6E-4	0.0|0.0	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|.	.|.	.|.	4.54|4.54	2.62|2.62	0.31277|0.31277	.|.	.|0.689961	.|0.11977	.|N	.|0.511127	T|.	0.16514|.	0.0397|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29761|.	-1.0001|.	3|.	.|0.05959	.|T	.|0.93	-0.1672|-0.1672	5.6619|5.6619	0.17674|0.17674	0.0951:0.0:0.4197:0.4852|0.0951:0.0:0.4197:0.4852	.|.	.|.	.|.	.|.	V|X	199|485;481	.|.	.|ENSP00000337998:R485X	A|R	-|-	2|1	0|2	NCKAP5L|NCKAP5L	48476457|48476457	0.706000|0.706000	0.27856|0.27856	0.816000|0.816000	0.32577|0.32577	0.697000|0.697000	0.40408|0.40408	0.795000|0.795000	0.26972|0.26972	1.012000|1.012000	0.39366|0.39366	0.561000|0.561000	0.74099|0.74099	GCG|CGA		0.662	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		5	7	0	0	0	1	0	5	7				
MAP3K12	7786	broad.mit.edu	37	12	53880325	53880325	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53880325C>T	ENST00000267079.2	-	4	653	c.428G>A	c.(427-429)cGc>cAc	p.R143H	MAP3K12_ENST00000547488.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCGTGGAAGCGCCCCAGGAA	0.592																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(427-429)cGc>cAc		mitogen-activated protein kinase kinase kinase 12							78.0	68.0	71.0					12																	53880325		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880325C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.428G>A	12.37:g.53880325C>T	ENSP00000267079:p.Arg143His					MAP3K12_ENST00000547488.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R176H|MAP3K12_ENST00000547151.1_5'UTR	p.R143H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			4	653	-			143			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.428G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190277	0.58017	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.89810	-2.57;-2.57;-2.57	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000340	T	0.81545	0.4845	L	0.46567	1.45	0.51482	D	0.999928	P;B	0.39131	0.661;0.329	B;B	0.30179	0.109;0.112	T	0.78630	-0.2129	10	0.17832	T	0.49	.	11.716	0.51653	0.0:0.9173:0.0:0.0827	.	176;143	G3V1Y2;Q12852	.;M3K12_HUMAN	H	143;176;176	ENSP00000267079:R143H;ENSP00000449038:R176H;ENSP00000448689:R176H	ENSP00000267079:R143H	R	-	2	0	MAP3K12	52166592	0.140000	0.22579	1.000000	0.80357	0.998000	0.95712	1.232000	0.32636	2.688000	0.91661	0.561000	0.74099	CGC		0.592	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		7	14	0	0	0	1	0	7	14				
TLN1	7094	broad.mit.edu	37	9	35714817	35714817	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35714817G>A	ENST00000314888.9	-	22	3164	c.2811C>T	c.(2809-2811)caC>caT	p.H937H	TLN1_ENST00000540444.1_Silent_p.H937H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	937					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGAGGCTGCGTGCTGAGCTG	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2809-2811)caC>caT		talin 1							44.0	51.0	49.0					9																	35714817		2201	4300	6501	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714817G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2811C>T	9.37:g.35714817G>A						TLN1_ENST00000540444.1_Silent_p.H937H	p.H937H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		22	3164	-	all_epithelial(49;0.167)		937					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.2811C>T	CCDS35009.1																																																																																				0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	57	0	0	0	1	0	4	57				
SPTBN1	6711	broad.mit.edu	37	2	54856594	54856594	+	Missense_Mutation	SNP	G	G	A	rs1804471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54856594G>A	ENST00000356805.4	+	14	2604	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D762N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	775					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGTGGGCCACGATGAGTATTC	0.562																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2284-2286)Gat>Aat		spectrin, beta, non-erythrocytic 1							86.0	86.0	86.0					2																	54856594		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856594G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2323G>A	2.37:g.54856594G>A	ENSP00000349259:p.Asp775Asn					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D775N	p.D762N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2669	+			775					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2284G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541107	0.85917	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58060	0.85;0.36	5.37	5.37	0.77165	.	0.047919	0.85682	D	0.000000	T	0.77857	0.4193	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.969;0.998	T	0.81448	-0.0928	10	0.87932	D	0	.	19.4802	0.95007	0.0:0.0:1.0:0.0	.	762;775	Q01082-3;Q01082	.;SPTB2_HUMAN	N	775;762	ENSP00000349259:D775N;ENSP00000334156:D762N	ENSP00000334156:D762N	D	+	1	0	SPTBN1	54710098	1.000000	0.71417	0.989000	0.46669	0.530000	0.34684	9.751000	0.98889	2.692000	0.91855	0.655000	0.94253	GAT		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			34	26	0	0	0	1	0	34	26				
AHNAK	79026	broad.mit.edu	37	11	62298776	62298776	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62298776G>A	ENST00000378024.4	-	5	3387	c.3113C>T	c.(3112-3114)gCt>gTt	p.A1038V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1038					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGATCTGGAGCATTAGTATC	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3112-3114)gCt>gTt		AHNAK nucleoprotein							89.0	87.0	88.0					11																	62298776		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298776G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3113C>T	11.37:g.62298776G>A	ENSP00000367263:p.Ala1038Val					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1038V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3387	-		Melanoma(852;0.155)	1038					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3113C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.090	-1.168333	0.01660	.	.	ENSG00000124942	ENST00000378024	T	0.01871	4.59	4.63	3.69	0.42338	.	0.860593	0.10168	N	0.707455	T	0.01523	0.0049	N	0.05619	-0.005	0.28889	N	0.893935	B	0.15930	0.015	B	0.15870	0.014	T	0.37776	-0.9691	10	0.18276	T	0.48	-6.6825	8.9396	0.35722	0.0898:0.1546:0.7555:0.0	.	1038	Q09666	AHNK_HUMAN	V	1038	ENSP00000367263:A1038V	ENSP00000367263:A1038V	A	-	2	0	AHNAK	62055352	0.000000	0.05858	0.996000	0.52242	0.132000	0.20833	-0.264000	0.08658	2.285000	0.76669	0.555000	0.69702	GCT		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		34	61	0	0	0	1	0	34	61				
ARRDC4	91947	broad.mit.edu	37	15	98513233	98513233	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98513233G>A	ENST00000268042.6	+	6	1167	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D248N	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	335					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GTTCAGTATGGATATGAGCTG	0.428																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(1003-1005)Gat>Aat		arrestin domain containing 4							70.0	70.0	70.0					15																	98513233		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98513233G>A	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1003G>A	15.37:g.98513233G>A	ENSP00000268042:p.Asp335Asn					ARRDC4_ENST00000538249.1_Missense_Mutation_p.D248N	p.D335N	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		6	1167	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		335					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.1003G>A	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846223	0.51164	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.06294	3.32;3.32	4.87	4.87	0.63330	Immunoglobulin E-set (1);	0.140106	0.48286	D	0.000181	T	0.14527	0.0351	L	0.37630	1.12	0.47511	D	0.999447	D;D	0.76494	0.999;0.999	D;D	0.69479	0.922;0.964	T	0.13926	-1.0491	10	0.08381	T	0.77	-19.4029	18.5731	0.91144	0.0:0.0:1.0:0.0	.	335;248	Q8NCT1;F5H824	ARRD4_HUMAN;.	N	248;335	ENSP00000443774:D248N;ENSP00000268042:D335N	ENSP00000268042:D335N	D	+	1	0	ARRDC4	96314237	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.979000	0.63806	2.683000	0.91414	0.650000	0.86243	GAT		0.428	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		17	31	0	0	0	1	0	17	31				
MAGI2	9863	broad.mit.edu	37	7	77764474	77764474	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:77764474G>T	ENST00000354212.4	-	17	3148	c.2895C>A	c.(2893-2895)cgC>cgA	p.R965R	MAGI2_ENST00000419488.1_Silent_p.R951R|MAGI2_ENST00000522391.1_Silent_p.R965R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	965	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTTTGCACAGCGATCTGCAG	0.473																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2893-2895)cgC>cgA		membrane associated guanylate kinase, WW and PDZ domain containing 2							190.0	165.0	173.0					7																	77764474		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764474G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2895C>A	7.37:g.77764474G>T						MAGI2_ENST00000419488.1_Silent_p.R951R|MAGI2_ENST00000522391.1_Silent_p.R965R	p.R965R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			17	3148	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	965			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2895C>A	CCDS5594.1																																																																																				0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		25	56	1	0	3.73808e-20	1	4.14251e-20	25	56				
TRIM33	51592	broad.mit.edu	37	1	114945490	114945490	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114945490G>A	ENST00000358465.2	-	16	2867	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	TRIM33_ENST00000476908.1_5'Flank|TRIM33_ENST00000369543.2_Silent_p.C928C|TRIM33_ENST00000450349.2_Silent_p.C560C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	928					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAAAATGTGCATATCCAGT	0.448			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2782-2784)tgC>tgT		tripartite motif containing 33							83.0	81.0	82.0					1																	114945490		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114945490G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2784C>T	1.37:g.114945490G>A						TRIM33_ENST00000369543.2_Silent_p.C928C|TRIM33_ENST00000450349.2_Silent_p.C560C	p.C928C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2867	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	928					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.2784C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808958	0.16537	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.27	3.4	0.38934	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31696	-0.9934	4	.	.	.	-5.9436	6.8567	0.24044	0.3959:0.0:0.6041:0.0	.	.	.	.	V	689	.	.	A	-	2	0	TRIM33	114747013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.609000	0.46317	0.714000	0.32081	0.650000	0.86243	GCA		0.448	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		19	32	0	0	0	1	0	19	32				
NARF	26502	broad.mit.edu	37	17	80439021	80439021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80439021G>A	ENST00000309794.11	+	7	901	c.703G>A	c.(703-705)Gct>Act	p.A235T	NARF_ENST00000457415.3_Missense_Mutation_p.A281T|NARF_ENST00000390006.4_Missense_Mutation_p.A176T|NARF_ENST00000412079.2_Missense_Mutation_p.A107T|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000345415.7_Missense_Mutation_p.A187T	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	235						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAGCTGGAGGCTCTTCAGGA	0.582																																						ENST00000390006.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(526-528)Gct>Act		nuclear prelamin A recognition factor							107.0	107.0	107.0					17																	80439021		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80439021G>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.703G>A	17.37:g.80439021G>A	ENSP00000309899:p.Ala235Thr					NARF_ENST00000412079.2_Missense_Mutation_p.A107T|NARF_ENST00000457415.3_Missense_Mutation_p.A281T|NARF_ENST00000345415.7_Missense_Mutation_p.A187T|NARF_ENST00000309794.10_Missense_Mutation_p.A235T	p.A176T	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	1000	+	Breast(20;0.00106)|all_neural(118;0.0804)		235					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.526G>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075983	0.36662	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.36	5.36	0.76844	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.996;0.998;0.99	T	0.79926	-0.1597	10	0.72032	D	0.01	-28.4081	18.0663	0.89391	0.0:0.0:1.0:0.0	.	107;190;235;187;235;235	B4DZZ6;B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;.;NARF_HUMAN	T	176;235;235;187;107;190	ENSP00000374656:A176T;ENSP00000363739:A235T;ENSP00000309899:A235T;ENSP00000283996:A187T;ENSP00000409710:A107T	ENSP00000309899:A235T	A	+	1	0	NARF	78032310	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	7.296000	0.78790	2.513000	0.84729	0.491000	0.48974	GCT		0.582	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		26	45	0	0	0	1	0	26	45				
UHMK1	127933	broad.mit.edu	37	1	162469884	162469884	+	Silent	SNP	G	G	A	rs374875061	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162469884G>A	ENST00000489294.1	+	2	566	c.408G>A	c.(406-408)caG>caA	p.Q136Q	UHMK1_ENST00000545294.1_Silent_p.Q62Q|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Silent_p.Q136Q	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGATGATACAGCATTGTGCCC	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		18612	0.002		0.0	False		,,,				2504	0.0					ENST00000489294.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11						c.(406-408)caG>caA		U2AF homology motif (UHM) kinase 1							205.0	175.0	185.0					1																	162469884		2203	4300	6503	SO:0001819	synonymous_variant	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162469884G>A	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.408G>A	1.37:g.162469884G>A						UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Silent_p.Q62Q|UHMK1_ENST00000538489.1_Silent_p.Q136Q	p.Q136Q	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	566	+	all_hematologic(112;0.115)		136			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Silent	SNP	ENST00000489294.1	37	c.408G>A	CCDS1239.1																																																																																				0.478	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		45	42	0	0	0	1	0	45	42				
LTN1	26046	broad.mit.edu	37	21	30308907	30308907	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30308907T>C	ENST00000361371.5	-	26	4674	c.4595A>G	c.(4594-4596)gAg>gGg	p.E1532G	LTN1_ENST00000389194.2_Missense_Mutation_p.E1578G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1532					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTTGGGACCTCAACTGCTGT	0.393																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4594-4596)gAg>gGg		listerin E3 ubiquitin protein ligase 1							236.0	240.0	239.0					21																	30308907		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30308907T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4595A>G	21.37:g.30308907T>C	ENSP00000354977:p.Glu1532Gly					LTN1_ENST00000389194.2_Missense_Mutation_p.E1578G	p.E1532G	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			26	4745	-			1532					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.4595A>G		.	.	.	.	.	.	.	.	.	.	T	12.85	2.060763	0.36373	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20069	2.1;2.1	5.22	5.22	0.72569	.	0.151249	0.64402	D	0.000017	T	0.09686	0.0238	N	0.03608	-0.345	0.51233	D	0.999918	P	0.49090	0.919	B	0.37550	0.253	T	0.23762	-1.0179	10	0.36615	T	0.2	.	15.2663	0.73663	0.0:0.0:0.0:1.0	.	1532	O94822	LTN1_HUMAN	G	1578;1532	ENSP00000373846:E1578G;ENSP00000354977:E1532G	ENSP00000354977:E1532G	E	-	2	0	LTN1	29230778	1.000000	0.71417	0.392000	0.26245	0.363000	0.29612	4.920000	0.63390	2.183000	0.69458	0.533000	0.62120	GAG		0.393	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		73	38	0	0	0	1	0	73	38				
AGBL5	60509	broad.mit.edu	37	2	27282314	27282314	+	Intron	SNP	C	C	A	rs1058815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27282314C>A	ENST00000360131.4	+	11	2248				AGBL5_ENST00000323064.8_Missense_Mutation_p.L711M|RP11-195B17.1_ENST00000607659.1_RNA|AGBL5-IT1_ENST00000411862.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5						protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCGGTTGTCTGGGGCATTG	0.557																																						ENST00000323064.8																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(2131-2133)Ctg>Atg		ATP/GTP binding protein-like 5							52.0	61.0	58.0					2																	27282314		2197	4294	6491	SO:0001627	intron_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27282314C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2089+42C>A	2.37:g.27282314C>A						AGBL5_ENST00000360131.4_Intron	p.L711M	NM_001035507.2	NP_001030584.1	Q8NDL9	CBPC5_HUMAN			11	2293	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.2131C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788545	0.31685	.	.	ENSG00000084693	ENST00000323064	T	0.15603	2.41	5.76	2.12	0.27331	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.80722	D	1	B	0.26744	0.158	B	0.27715	0.082	T	0.21143	-1.0254	7	.	.	.	.	4.5113	0.11912	0.1413:0.3153:0.0:0.5434	.	711	Q8NDL9-3	.	M	711	ENSP00000323681:L711M	.	L	+	1	2	AGBL5	27135818	0.999000	0.42202	1.000000	0.80357	0.168000	0.22595	0.322000	0.19576	0.473000	0.27368	-0.302000	0.09304	CTG		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		21	43	1	0	2.37509e-13	1	2.57931e-13	21	43				
CLRN1	7401	broad.mit.edu	37	3	150644648	150644648	+	3'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:150644648G>A	ENST00000327047.1	-	0	2064				RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Silent_p.G118G|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1						actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCAGCTGTGGCCTTTAGTCA	0.468																																						ENST00000295911.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14						c.(352-354)ggC>ggT		clarin 1							138.0	130.0	132.0					3																	150644648		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150644648G>A	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.*1075C>T	3.37:g.150644648G>A						RP11-166N6.3_ENST00000569170.1_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000327047.1_3'UTR	p.G118G	NM_052995.2	NP_443721.1	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		4	745	-			0					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.354C>T	CCDS3153.1																																																																																				0.468	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			14	22	0	0	0	1	0	14	22				
SLC6A2	6530	broad.mit.edu	37	16	55735848	55735848	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55735848T>C	ENST00000379906.2	+	13	2085		c.e13+2		SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000414754.3_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGTTCCAGGTGGGTGAAGCC	0.592											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.e13+2		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						75.0	74.0	74.0					16																	55735848		2198	4300	6498	SO:0001630	splice_region_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55735848T>C		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1830+2T>C	16.37:g.55735848T>C			OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	SLC6A2_ENST00000568943.1_Splice_Site|SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000219833.8_Splice_Site|SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000561820.1_Intron		NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	13	2085	+								B2R707|B4DX48|Q96KH8	Splice_Site	SNP	ENST00000379906.2	37		CCDS10754.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865779	0.51588	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7726	0.63036	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A2	54293349	1.000000	0.71417	0.933000	0.37362	0.508000	0.34012	7.313000	0.78978	1.902000	0.55061	0.528000	0.53228	.		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		Intron	16	12	0	0	0	1	0	16	12				
ANKRD23	200539	broad.mit.edu	37	2	97506646	97506646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97506646G>A	ENST00000318357.4	-	4	345	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Nonsense_Mutation_p.Q102*	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	102					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCTGGGACTGCGGCTGGTTC	0.592																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(304-306)Cag>Tag		ankyrin repeat domain 23							66.0	62.0	63.0					2																	97506646		2203	4300	6503	SO:0001587	stop_gained	200539					nucleus		g.chr2:97506646G>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.304C>T	2.37:g.97506646G>A	ENSP00000321679:p.Gln102*					ANKRD23_ENST00000418232.1_Nonsense_Mutation_p.Q102*|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Intron	p.Q102*	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			4	345	-			102					Q711K7|Q8NAJ7	Nonsense_Mutation	SNP	ENST00000318357.4	37	c.304C>T	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986258	0.53934	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	.	.	.	5.36	5.36	0.76844	.	0.000000	0.35525	U	0.003147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.9286	14.569	0.68200	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000321679:Q102X	Q	-	1	0	ANKRD23	96870373	0.973000	0.33851	0.937000	0.37676	0.245000	0.25701	3.423000	0.52756	2.509000	0.84616	0.561000	0.74099	CAG		0.592	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		14	23	0	0	0	1	0	14	23				
ARMC6	93436	broad.mit.edu	37	19	19162890	19162890	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19162890C>T	ENST00000535612.1	+	5	1171	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	ARMC6_ENST00000546344.1_Missense_Mutation_p.R154C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R222C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R247C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R222C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	247					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTGGGCCCTGCGTGTCATGAC	0.577																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(739-741)Cgt>Tgt		armadillo repeat containing 6							97.0	53.0	68.0					19																	19162890		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162890C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.739C>T	19.37:g.19162890C>T	ENSP00000444156:p.Arg247Cys					ARMC6_ENST00000546344.1_Missense_Mutation_p.R154C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R222C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R222C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R247C	p.R247C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1171	+			247					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.739C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297244	0.60086	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.32	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83718	0.0191	10	0.51188	T	0.08	-37.304	14.6963	0.69124	0.2259:0.7741:0.0:0.0	.	247	Q6NXE6	ARMC6_HUMAN	C	222;247;222;222;154;222;154;158;158;247	ENSP00000376147:R222C;ENSP00000444156:R247C;ENSP00000441948:R222C;ENSP00000269932:R222C;ENSP00000444341:R154C;ENSP00000446037:R222C;ENSP00000437580:R154C;ENSP00000376148:R247C	ENSP00000269932:R222C	R	+	1	0	ARMC6	19023890	0.666000	0.27475	0.970000	0.41538	0.664000	0.39144	1.030000	0.30153	2.492000	0.84095	0.561000	0.74099	CGT		0.577	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		11	20	0	0	0	1	0	11	20				
KMT2C	58508	broad.mit.edu	37	7	151860707	151860707	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151860707C>A	ENST00000262189.6	-	43	10173	c.9955G>T	c.(9955-9957)Gtt>Ttt	p.V3319F	KMT2C_ENST00000355193.2_Missense_Mutation_p.V3319F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3319	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGAAATAACTGTTGTGTGC	0.562																																						ENST00000355193.2																			0											c.(9955-9957)Gtt>Ttt		lysine (K)-specific methyltransferase 2C							130.0	113.0	119.0					7																	151860707		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860707C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9955G>T	7.37:g.151860707C>A	ENSP00000262189:p.Val3319Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.V3319F	p.V3319F							43	10173	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9955G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.011|7.011	0.556703|0.556703	0.13436|0.13436	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.84370	.|-1.84;-1.83	5.13|5.13	1.92|1.92	0.25849|0.25849	.|.	.|0.376397	.|0.18594	.|N	.|0.136654	D|D	0.84383|0.84383	0.5460|0.5460	L|L	0.51422|0.51422	1.61|1.61	0.19945|0.19945	N|N	0.999948|0.999948	.|P;B;D	.|0.59767	.|0.468;0.247;0.986	.|B;B;P	.|0.53035	.|0.125;0.079;0.716	T|T	0.74919|0.74919	-0.3500|-0.3500	5|10	.|0.56958	.|D	.|0.05	.|.	8.6038|8.6038	0.33760|0.33760	0.0:0.7087:0.1311:0.1602|0.0:0.7087:0.1311:0.1602	.|.	.|3319;2380;3319	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	I|F	824|3319	.|ENSP00000262189:V3319F;ENSP00000347325:V3319F	.|ENSP00000262189:V3319F	S|V	-|-	2|1	0|0	MLL3|MLL3	151491640|151491640	0.115000|0.115000	0.22152|0.22152	0.098000|0.098000	0.21074|0.21074	0.191000|0.191000	0.23601|0.23601	1.005000|1.005000	0.29834|0.29834	1.161000|1.161000	0.42604|0.42604	-0.140000|-0.140000	0.14226|0.14226	AGT|GTT		0.562	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			17	22	1	0	1.02788e-11	1	1.10723e-11	17	22				
SPECC1L	23384	broad.mit.edu	37	22	24761566	24761566	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24761566G>A	ENST00000314328.9	+	13	3235	c.2950G>A	c.(2950-2952)Gca>Aca	p.A984T	SPECC1L_ENST00000541492.1_Missense_Mutation_p.A984T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A984T|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	984					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TTCTCCAACGGCATCTGTGAC	0.507																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2950-2952)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							134.0	101.0	112.0					22																	24761566		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24761566G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2950G>A	22.37:g.24761566G>A	ENSP00000325785:p.Ala984Thr					KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A984T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A984T	p.A984T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			13	3235	+			984					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2950G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052547	0.75960	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.60424	0.19;0.19;3.13	5.55	5.55	0.83447	.	0.107462	0.64402	D	0.000005	T	0.42426	0.1202	N	0.08118	0	0.80722	D	1	P;B	0.39181	0.663;0.384	B;B	0.38954	0.286;0.07	T	0.45991	-0.9223	10	0.41790	T	0.15	-21.7724	18.4846	0.90824	0.0:0.0:1.0:0.0	.	984;984	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	984	ENSP00000393363:A984T;ENSP00000325785:A984T;ENSP00000439633:A984T	ENSP00000325785:A984T	A	+	1	0	SPECC1L	23091566	1.000000	0.71417	0.519000	0.27824	0.983000	0.72400	8.241000	0.89816	2.608000	0.88229	0.591000	0.81541	GCA		0.507	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		4	96	0	0	0	1	0	4	96				
RBL1	5933	broad.mit.edu	37	20	35689594	35689594	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35689594C>T	ENST00000373664.3	-	9	1228	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	RBL1_ENST00000344359.3_Missense_Mutation_p.A388T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	388	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGGCTGATGCAACAGGAGTA	0.413																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1162-1164)Gca>Aca		retinoblastoma-like 1 (p107)							119.0	113.0	115.0					20																	35689594		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35689594C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1162G>A	20.37:g.35689594C>T	ENSP00000362768:p.Ala388Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.A388T	p.A388T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			9	1228	-		Myeloproliferative disorder(115;0.00878)	388			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1162G>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953626	0.73902	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.87412	-2.25;-2.25	4.44	4.44	0.53790	Retinoblastoma-associated protein, A-box (1);	0.057277	0.64402	D	0.000001	T	0.77054	0.4074	N	0.17723	0.515	0.46499	D	0.999075	P;B	0.48089	0.905;0.1	B;B	0.42343	0.384;0.06	T	0.74609	-0.3608	10	0.16896	T	0.51	-10.2026	12.3981	0.55397	0.1679:0.8321:0.0:0.0	.	388;388	P28749-2;P28749	.;RBL1_HUMAN	T	388	ENSP00000362768:A388T;ENSP00000343646:A388T	ENSP00000343646:A388T	A	-	1	0	RBL1	35123008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.700000	0.68318	2.309000	0.77851	0.655000	0.94253	GCA		0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		4	80	0	0	0	1	0	4	80				
ZNF407	55628	broad.mit.edu	37	18	72346077	72346077	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72346077G>A	ENST00000299687.5	+	1	3102	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	ZNF407_ENST00000309902.6_Silent_p.L1034L|ZNF407_ENST00000582337.1_Silent_p.L1034L|ZNF407_ENST00000577538.1_Silent_p.L1034L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1034					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTCTAGAGCTGCATGTAAAAC	0.483																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3100-3102)ctG>ctA		zinc finger protein 407							121.0	123.0	123.0					18																	72346077		2020	4184	6204	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346077G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3102G>A	18.37:g.72346077G>A						ZNF407_ENST00000577538.1_Silent_p.L1034L|ZNF407_ENST00000309902.6_Silent_p.L1034L|ZNF407_ENST00000582337.1_Silent_p.L1034L	p.L1034L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3102	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1034					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.3102G>A	CCDS45885.1																																																																																				0.483	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		27	65	0	0	0	1	0	27	65				
ZNF652	22834	broad.mit.edu	37	17	47376203	47376203	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47376203C>A	ENST00000362063.2	-	6	1711	c.1393G>T	c.(1393-1395)Ggc>Tgc	p.G465C	ZNF652_ENST00000430262.2_Missense_Mutation_p.G465C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GGCTTCTCGCCTGTGTGAGTT	0.537																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1393-1395)Ggc>Tgc		zinc finger protein 652							70.0	61.0	64.0					17																	47376203		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376203C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1393G>T	17.37:g.47376203C>A	ENSP00000354686:p.Gly465Cys					ZNF652_ENST00000430262.2_Missense_Mutation_p.G465C	p.G465C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1711	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		465					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1393G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712011	0.89112	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.26660	1.72;1.72	4.51	4.51	0.55191	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65170	-0.6233	10	0.87932	D	0	-14.5951	17.3725	0.87382	0.0:1.0:0.0:0.0	.	465	Q9Y2D9	ZN652_HUMAN	C	465	ENSP00000354686:G465C;ENSP00000416305:G465C	ENSP00000354686:G465C	G	-	1	0	ZNF652	44731202	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.589000	0.82641	2.504000	0.84457	0.491000	0.48974	GGC		0.537	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		21	18	1	0	1.96292e-10	1	2.09789e-10	21	18				
PCDHGB4	8641	broad.mit.edu	37	5	140769586	140769586	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140769586G>A	ENST00000519479.1	+	1	2135	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	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	712					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.R712H(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)			ATTGCCTTGCGCCTGCGACGC	0.602																																						ENST00000519479.1																			1	Substitution - Missense(1)	p.R712H(1)	large_intestine(1)	endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2134-2136)cGc>cAc									148.0	162.0	157.0					5																	140769586		2090	4215	6305	SO:0001583	missense	0							g.chr5:140769586G>A	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.2135G>A	5.37:g.140769586G>A	ENSP00000428288:p.Arg712His					PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R712H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2135	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2135G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.395369	0.42512	.	.	ENSG00000253953	ENST00000519479	T	0.13420	2.59	5.31	2.25	0.28309	.	.	.	.	.	T	0.17152	0.0412	M	0.77712	2.385	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.15870	0.005;0.014	T	0.17440	-1.0369	9	0.56958	D	0.05	.	6.2792	0.20997	0.2395:0.137:0.6235:0.0	.	712;712	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	712	ENSP00000428288:R712H	ENSP00000428288:R712H	R	+	2	0	PCDHGB4	140749770	0.000000	0.05858	0.630000	0.29268	0.709000	0.40893	-0.110000	0.10824	1.193000	0.43086	0.563000	0.77884	CGC		0.602	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		68	120	0	0	0	1	0	68	120				
NMRK1	54981	broad.mit.edu	37	9	77683992	77683992	+	Missense_Mutation	SNP	G	G	A	rs137952847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77683992G>A	ENST00000361092.4	-	7	652	c.416C>T	c.(415-417)tCt>tTt	p.S139F	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376811.1_Missense_Mutation_p.S143F|NMRK1_ENST00000376808.4_Missense_Mutation_p.S115F	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	139					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTATCCCGGAGAGTCTGGAGG	0.413																																						ENST00000376811.1																			0											c.(427-429)tCt>tTt		nicotinamide riboside kinase 1		G	PHE/SER,PHE/SER	2,4404	4.2+/-10.8	0,2,2201	112.0	104.0	107.0		344,416	4.3	0.4	9	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	C9orf95	NM_001127603.1,NM_017881.2	155,155	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	115/176,139/200	77683992	2,13004	2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77683992G>A	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.416C>T	9.37:g.77683992G>A	ENSP00000354387:p.Ser139Phe					NMRK1_ENST00000376808.4_Missense_Mutation_p.S115F|NMRK1_ENST00000361092.4_Missense_Mutation_p.S139F	p.S143F			Q9NWW6	NRK1_HUMAN			8	890	-			139					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.428C>T	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287234	0.40494	4.54E-4	0.0	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.32988	1.43;1.43;1.43	6.17	4.33	0.51752	.	0.503050	0.22968	N	0.053477	T	0.21674	0.0522	N	0.14661	0.345	0.22639	N	0.998902	B;P;B	0.45126	0.413;0.851;0.239	B;B;B	0.42625	0.17;0.393;0.178	T	0.08680	-1.0710	10	0.62326	D	0.03	-0.0771	13.0805	0.59112	0.1326:0.0:0.8674:0.0	.	115;143;139	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	F	143;143;139;115	ENSP00000366007:S143F;ENSP00000354387:S139F;ENSP00000366004:S115F	ENSP00000354387:S139F	S	-	2	0	C9orf95	76873812	0.998000	0.40836	0.439000	0.26833	0.478000	0.33099	5.049000	0.64244	1.627000	0.50400	0.655000	0.94253	TCT		0.413	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		18	33	0	0	0	1	0	18	33				
CHM	1121	broad.mit.edu	37	X	85155679	85155679	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:85155679G>A	ENST00000357749.2	-	11	1414	c.1385C>T	c.(1384-1386)tCt>tTt	p.S462F	CHM_ENST00000537751.1_Missense_Mutation_p.S314F|MIR361_ENST00000362181.1_RNA|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	462					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTTTAGGACAGATCTATCTGT	0.328																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1384-1386)tCt>tTt		choroideremia (Rab escort protein 1)							67.0	56.0	60.0					X																	85155679		2202	4300	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85155679G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1385C>T	X.37:g.85155679G>A	ENSP00000350386:p.Ser462Phe					CHM_ENST00000537751.1_Missense_Mutation_p.S314F|CHM_ENST00000467744.1_Intron	p.S462F	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			11	1414	-		all_lung(315;5.41e-06)	462					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1385C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.453823	0.26161	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85861	-2.04;-2.04	4.75	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	M	0.90977	3.165	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94217	0.7464	10	0.87932	D	0	3.3148	13.7199	0.62720	0.0:0.0:0.8445:0.1555	.	462	P24386	RAE1_HUMAN	F	462;314	ENSP00000350386:S462F;ENSP00000441728:S314F	ENSP00000350386:S462F	S	-	2	0	CHM	85042335	1.000000	0.71417	0.998000	0.56505	0.201000	0.24016	5.119000	0.64679	0.885000	0.36088	-0.554000	0.04202	TCT		0.328	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		17	1	0	0	0	1	0	17	1				
PITPNM2	57605	broad.mit.edu	37	12	123481945	123481945	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123481945C>T	ENST00000542749.1	-	9	1462	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A467T|PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A467T|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A188T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	467					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGCCCAGGGCGCTGGGGTAG	0.657																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1399-1401)Gcc>Acc		phosphatidylinositol transfer protein, membrane-associated 2							96.0	92.0	93.0					12																	123481945		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481945C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1399G>A	12.37:g.123481945C>T	ENSP00000437611:p.Ala467Thr					PITPNM2_ENST00000392428.1_Missense_Mutation_p.A188T|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A467T|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A467T	p.A467T			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1604	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		467					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1399G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	c	19.44	3.827759	0.71143	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.83	3.95	0.45737	.	0.068580	0.64402	N	0.000019	T	0.26521	0.0648	M	0.77313	2.365	0.48632	D	0.999688	B;B	0.32543	0.375;0.04	B;B	0.33690	0.168;0.01	T	0.04140	-1.0974	10	0.21540	T	0.41	-27.8049	13.2926	0.60278	0.0:0.9234:0.0:0.0766	.	467;467	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	T	467;467;188;467	ENSP00000280562:A467T;ENSP00000322218:A467T;ENSP00000376223:A188T;ENSP00000437611:A467T	ENSP00000280562:A467T	A	-	1	0	PITPNM2	122047898	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	3.967000	0.56802	1.051000	0.40369	-0.213000	0.12676	GCC		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		31	44	0	0	0	1	0	31	44				
DOCK4	9732	broad.mit.edu	37	7	111400346	111400346	+	Silent	SNP	G	G	A	rs137868719		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111400346G>A	ENST00000437633.1	-	39	4282	c.4026C>T	c.(4024-4026)taC>taT	p.Y1342Y	DOCK4_ENST00000494651.2_Silent_p.Y225Y|DOCK4_ENST00000428084.1_Silent_p.Y1351Y	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1342	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAGCCTCTCGTAGTCATGCC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20615	0.0		0.0	False		,,,				2504	0.0					ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4051-4053)taC>taT		dedicator of cytokinesis 4							149.0	151.0	151.0					7																	111400346		2058	4205	6263	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111400346G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4026C>T	7.37:g.111400346G>A						DOCK4_ENST00000437633.1_Silent_p.Y1342Y|DOCK4_ENST00000494651.2_Silent_p.Y225Y	p.Y1351Y			Q8N1I0	DOCK4_HUMAN			40	4325	-		Acute lymphoblastic leukemia(1;0.0441)	1342			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4053C>T	CCDS47688.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.818	1.185103	0.21870	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.72	-6.33	0.01988	.	.	.	.	.	T	0.62575	0.2439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65384	-0.6181	4	.	.	.	.	14.9586	0.71138	0.8313:0.0:0.1687:0.0	.	.	.	.	M	803;1375	.	.	T	-	2	0	DOCK4	111187582	0.978000	0.34361	0.907000	0.35723	0.992000	0.81027	0.232000	0.17891	-1.146000	0.02854	-0.423000	0.05987	ACG		0.493	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	115	0	0	0	1	0	4	115				
PHC3	80012	broad.mit.edu	37	3	169889192	169889192	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:169889192A>G	ENST00000494943.1	-	4	415	c.347T>C	c.(346-348)gTc>gCc	p.V116A	PHC3_ENST00000495893.2_Missense_Mutation_p.V128A|PHC3_ENST00000481639.1_Missense_Mutation_p.V124A|PHC3_ENST00000474275.1_Missense_Mutation_p.V112A|PHC3_ENST00000497658.1_Missense_Mutation_p.V128A|PHC3_ENST00000467570.1_Missense_Mutation_p.V128A			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	116	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTGTGTGACACTTCCTGT	0.343																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(346-348)gTc>gCc		polyhomeotic homolog 3 (Drosophila)							60.0	58.0	59.0					3																	169889192		1858	4101	5959	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169889192A>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.347T>C	3.37:g.169889192A>G	ENSP00000420271:p.Val116Ala					PHC3_ENST00000467570.1_Missense_Mutation_p.V128A|PHC3_ENST00000481639.1_Missense_Mutation_p.V124A|PHC3_ENST00000474275.1_Missense_Mutation_p.V112A|PHC3_ENST00000497658.1_Missense_Mutation_p.V128A|PHC3_ENST00000495893.1_Missense_Mutation_p.V128A	p.V116A			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	415	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		116			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.347T>C		.	.	.	.	.	.	.	.	.	.	A	14.65	2.599240	0.46318	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931;ENST00000466189;ENST00000475729;ENST00000474275;ENST00000465896;ENST00000497658;ENST00000481639	T;T	0.34859	1.34;1.35	5.61	5.61	0.85477	.	0.193998	0.36167	N	0.002748	T	0.35711	0.0941	L	0.45137	1.4	0.31437	N	0.672384	P;P;B;P;P;P;P;B	0.41450	0.75;0.597;0.272;0.75;0.75;0.566;0.597;0.392	B;B;B;B;P;B;B;B	0.45310	0.298;0.256;0.042;0.376;0.476;0.111;0.186;0.091	T	0.44651	-0.9314	9	.	.	.	-8.7231	10.1913	0.43028	0.9261:0.0:0.0739:0.0	.	128;128;116;128;124;112;128;128	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-5;G5E9U7;Q8NDX5-4;Q8NDX5-3;Q8NDX5-7	.;.;PHC3_HUMAN;.;.;.;.;.	A	116;128;128;128;128;128;112;128;128;124	ENSP00000420271:V116A;ENSP00000420294:V128A	.	V	-	2	0	PHC3	171371886	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.138000	0.58017	2.147000	0.66899	0.533000	0.62120	GTC		0.343	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	11	0	0	0	1	0	3	11				
FAT2	2196	broad.mit.edu	37	5	150887067	150887067	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150887067G>A	ENST00000261800.5	-	22	12177	c.12165C>T	c.(12163-12165)gcC>gcT	p.A4055A	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4055					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12163-12165)gcC>gcT		FAT atypical cadherin 2							61.0	60.0	61.0					5																	150887067		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150887067G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12165C>T	5.37:g.150887067G>A							p.A4055A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12177	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4055					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12165C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.972	0.180608	0.09443	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.46	-0.615	0.11587	.	.	.	.	.	T	0.34716	0.0907	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	.	9.9987	0.41916	0.0:0.21:0.2904:0.4996	.	.	.	.	C	828	.	.	R	-	1	0	FAT2	150867260	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.105000	0.15333	0.168000	0.19655	-0.152000	0.13540	CGT		0.572	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	32	0	0	0	1	0	27	32				
ZNF737	100129842	broad.mit.edu	37	19	20728021	20728021	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20728021T>C	ENST00000427401.4	-	4	1082	c.988A>G	c.(988-990)Aca>Gca	p.T330A		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTTTATGTGTAGTAAGGACA	0.403																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(988-990)Aca>Gca		zinc finger protein 737							22.0	21.0	22.0					19																	20728021		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728021T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.988A>G	19.37:g.20728021T>C	ENSP00000395733:p.Thr330Ala						p.T330A	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1082	-			330					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.988A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	7.846	0.723008	0.15439	.	.	ENSG00000237440	ENST00000427401	T	0.07216	3.21	0.801	-0.554	0.11811	.	.	.	.	.	T	0.04770	0.0129	N	0.20766	0.605	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.40156	-0.9578	9	0.44086	T	0.13	.	3.7789	0.08673	0.0:0.3207:0.0:0.6793	.	330	C9JHM3	.	A	330	ENSP00000395733:T330A	ENSP00000395733:T330A	T	-	1	0	ZNF737	20519861	0.000000	0.05858	0.496000	0.27539	0.498000	0.33706	-5.724000	0.00102	0.147000	0.19030	0.145000	0.16022	ACA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		7	56	0	0	0	1	0	7	56				
PTPRG	5793	broad.mit.edu	37	3	62153771	62153771	+	Missense_Mutation	SNP	C	C	T	rs142366357	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62153771C>T	ENST00000474889.1	+	8	1344	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R323C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	323					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCCGCCGTCCGTGACTCCTG	0.522													C|||	14	0.00279553	0.0098	0.0	5008	,	,		16165	0.001		0.0	False		,,,				2504	0.0					ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(967-969)Cgt>Tgt		protein tyrosine phosphatase, receptor type, G		C	CYS/ARG	18,4388	25.3+/-52.1	0,18,2185	77.0	75.0	76.0		967	4.2	0.9	3	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PTPRG	NM_002841.3	180	0,19,6484	TT,TC,CC		0.0116,0.4085,0.1461	benign	323/1446	62153771	19,12987	2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62153771C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.967C>T	3.37:g.62153771C>T	ENSP00000418112:p.Arg323Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.R323C	p.R323C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	8	1344	+			323					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.967C>T	CCDS2895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.42	3.119053	0.56505	0.004085	1.16E-4	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.51574	0.71;0.7	5.2	4.2	0.49525	.	0.389105	0.27531	N	0.018944	T	0.28034	0.0691	N	0.14661	0.345	0.48901	D	0.999723	D;P	0.57257	0.979;0.876	B;B	0.39152	0.292;0.153	T	0.16276	-1.0408	10	0.72032	D	0.01	.	10.9026	0.47059	0.4073:0.5927:0.0:0.0	.	323;323	P23470-2;P23470	.;PTPRG_HUMAN	C	323	ENSP00000418112:R323C;ENSP00000295874:R323C	ENSP00000295874:R323C	R	+	1	0	PTPRG	62128811	0.955000	0.32602	0.854000	0.33618	0.597000	0.36814	3.657000	0.54474	2.582000	0.87167	0.655000	0.94253	CGT		0.522	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		16	37	0	0	0	1	0	16	37				
KBTBD7	84078	broad.mit.edu	37	13	41768203	41768203	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41768203T>A	ENST00000379483.3	-	1	499	c.191A>T	c.(190-192)gAt>gTt	p.D64V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GATGGTCACATCACACAGCAG	0.607																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(190-192)gAt>gTt		kelch repeat and BTB (POZ) domain containing 7							75.0	72.0	73.0					13																	41768203		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768203T>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.191A>T	13.37:g.41768203T>A	ENSP00000368797:p.Asp64Val						p.D64V	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	499	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	64			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.191A>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494805	0.64186	.	.	ENSG00000120696	ENST00000379483	D	0.91464	-2.85	4.82	4.82	0.62117	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.97185	0.9080	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97979	1.0348	10	0.87932	D	0	.	12.3118	0.54933	0.0:0.0:0.0:1.0	.	64	Q8WVZ9	KBTB7_HUMAN	V	64	ENSP00000368797:D64V	ENSP00000368797:D64V	D	-	2	0	KBTBD7	40666203	1.000000	0.71417	0.978000	0.43139	0.887000	0.51463	6.520000	0.73773	1.790000	0.52503	0.260000	0.18958	GAT		0.607	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		13	34	0	0	0	1	0	13	34				
EXOSC9	5393	broad.mit.edu	37	4	122723045	122723045	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122723045G>A	ENST00000243498.5	+	2	238	c.130G>A	c.(130-132)Gga>Aga	p.G44R	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.G44R|EXOSC9_ENST00000512454.1_Missense_Mutation_p.G28R	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	44	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AACAGATTACGGATGCTGCAT	0.373																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(82-84)Gga>Aga		exosome component 9							115.0	103.0	107.0					4																	122723045		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723045G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.130G>A	4.37:g.122723045G>A	ENSP00000243498:p.Gly44Arg					EXOSC9_ENST00000379663.3_Missense_Mutation_p.G44R|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.G44R	p.G28R			Q06265	EXOS9_HUMAN			1	298	+			44			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.82G>A	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	33	5.264210	0.95399	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.61	5.61	0.85477	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96210	0.8764	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.96869	0.9638	10	0.87932	D	0	-21.1514	19.2597	0.93962	0.0:0.0:1.0:0.0	.	28;44;44	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	R	44;44;44;28	ENSP00000243498:G44R;ENSP00000368984:G44R;ENSP00000422205:G44R;ENSP00000425782:G28R	ENSP00000243498:G44R	G	+	1	0	EXOSC9	122942495	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.608000	0.90895	2.638000	0.89438	0.650000	0.86243	GGA		0.373	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		38	53	0	0	0	1	0	38	53				
SIDT2	51092	broad.mit.edu	37	11	117063906	117063906	+	Missense_Mutation	SNP	G	G	A	rs138225019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117063906G>A	ENST00000324225.4	+	23	2674	c.2143G>A	c.(2143-2145)Gct>Act	p.A715T	SIDT2_ENST00000532062.1_Missense_Mutation_p.A7T|SIDT2_ENST00000431081.2_Missense_Mutation_p.A712T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	715					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAATGATTTCGCTTCCTACTT	0.557																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2143-2145)Gct>Act		SID1 transmembrane family, member 2							429.0	406.0	413.0					11																	117063906		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117063906G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2143G>A	11.37:g.117063906G>A	ENSP00000314023:p.Ala715Thr					SIDT2_ENST00000431081.2_Missense_Mutation_p.A712T|SIDT2_ENST00000532062.1_Missense_Mutation_p.A7T	p.A715T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	23	2674	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	715					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.2143G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	36	5.825438	0.96996	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.993;0.997	T	0.51244	-0.8730	10	0.38643	T	0.18	-29.9616	19.0513	0.93046	0.0:0.0:1.0:0.0	.	736;712;715;736	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	T	715;736;712;69;53;7	ENSP00000314023:A715T;ENSP00000278951:A736T;ENSP00000399635:A712T;ENSP00000435890:A53T;ENSP00000432432:A7T	ENSP00000278951:A736T	A	+	1	0	SIDT2	116569116	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.771000	0.85420	2.828000	0.97474	0.655000	0.94253	GCT		0.557	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		7	396	0	0	0	1	0	7	396				
ZDBF2	57683	broad.mit.edu	37	2	207175942	207175942	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207175942C>T	ENST00000374423.3	+	5	7076	c.6690C>T	c.(6688-6690)taC>taT	p.Y2230Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2230							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Y2230*(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCGAAATACTCTGTCTTTT	0.373																																						ENST00000374423.3																			1	Substitution - Nonsense(1)	p.Y2230*(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(6688-6690)taC>taT		zinc finger, DBF-type containing 2							40.0	39.0	40.0					2																	207175942		1818	4079	5897	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207175942C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6690C>T	2.37:g.207175942C>T							p.Y2230Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	7076	+			2230					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.6690C>T	CCDS46501.1																																																																																				0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	8	0	0	0	1	0	10	8				
CAMSAP1	157922	broad.mit.edu	37	9	138710415	138710415	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138710415C>T	ENST00000389532.4	-	13	4071	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1336					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GAGCTCGCGCCGCGCCTTCTC	0.632																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4006-4008)cGg>cAg		calmodulin regulated spectrin-associated protein 1							62.0	55.0	57.0					9																	138710415		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710415C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4007G>A	9.37:g.138710415C>T	ENSP00000374183:p.Arg1336Gln					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1347Q|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1058Q	p.R1336Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	13	4071	-			1336					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4007G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	32	5.134924	0.94517	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.33865	1.4;1.51;1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68640	-0.5355	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1336;1347	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1336;1058;1347	ENSP00000374183:R1336Q;ENSP00000312463:R1058Q;ENSP00000386420:R1347Q	ENSP00000312463:R1058Q	R	-	2	0	CAMSAP1	137850236	1.000000	0.71417	0.270000	0.24601	0.922000	0.55478	5.983000	0.70540	2.386000	0.81285	0.655000	0.94253	CGG		0.632	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	39	0	0	0	1	0	3	39				
UQCC1	55245	broad.mit.edu	37	20	33935022	33935022	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33935022C>T	ENST00000374385.5	-	7	695	c.518G>A	c.(517-519)cGt>cAt	p.R173H	UQCC1_ENST00000349714.5_Missense_Mutation_p.R146H|UQCC1_ENST00000374377.5_Missense_Mutation_p.R61H|UQCC1_ENST00000542501.1_Silent_p.S129S|UQCC1_ENST00000540457.1_Missense_Mutation_p.R18H|UQCC1_ENST00000374380.2_Missense_Mutation_p.R105H|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.R173H|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.R173H|UQCC1_ENST00000397556.3_Missense_Mutation_p.R74H|UQCC1_ENST00000491125.1_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	173						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											AACTATGATACGACACATGTA	0.478																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(517-519)cGt>cAt									264.0	227.0	240.0					20																	33935022		2203	4300	6503	SO:0001583	missense	0					cytoplasmic membrane-bounded vesicle		g.chr20:33935022C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.518G>A	20.37:g.33935022C>T	ENSP00000363506:p.Arg173His					UQCC_ENST00000542501.1_Silent_p.S129S|UQCC_ENST00000540457.1_Missense_Mutation_p.R18H|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000349714.5_Missense_Mutation_p.R146H|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Missense_Mutation_p.R74H|UQCC_ENST00000374385.5_Missense_Mutation_p.R173H|UQCC_ENST00000374377.5_Missense_Mutation_p.R61H|UQCC_ENST00000374380.2_Missense_Mutation_p.R105H|UQCC_ENST00000374384.2_Missense_Mutation_p.R173H	p.R173H			Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		7	528	-			173					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.518G>A	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101380	0.56183	.	.	ENSG00000101019	ENST00000349714;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000540457;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T;T	0.44083	1.52;1.41;1.47;0.93;1.42;1.38	4.32	1.16	0.20824	.	0.132116	0.53938	N	0.000059	T	0.35740	0.0942	L	0.56769	1.78	0.80722	D	1	B;B;B;B;B;B;B;B	0.20459	0.045;0.025;0.008;0.025;0.002;0.006;0.003;0.001	B;B;B;B;B;B;B;B	0.19148	0.024;0.024;0.012;0.016;0.004;0.009;0.022;0.005	T	0.15065	-1.0450	10	0.42905	T	0.14	-5.9787	9.4284	0.38595	0.0:0.7725:0.0:0.2275	.	105;165;173;173;58;74;146;173	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1	.;.;.;.;.;.;.;UQCC_HUMAN	H	146;173;105;173;61;74;18;141;187;173	ENSP00000335364:R146H;ENSP00000363505:R173H;ENSP00000363506:R173H;ENSP00000399713:R141H;ENSP00000398531:R187H;ENSP00000380686:R173H	ENSP00000335364:R146H	R	-	2	0	UQCC	33398436	1.000000	0.71417	0.844000	0.33320	0.997000	0.91878	2.298000	0.43602	0.176000	0.19873	0.491000	0.48974	CGT		0.478	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		6	153	0	0	0	1	0	6	153				
FAM92B	339145	broad.mit.edu	37	16	85135865	85135865	+	Silent	SNP	G	G	A	rs373284017		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85135865G>A	ENST00000539556.1	-	7	761	c.606C>T	c.(604-606)agC>agT	p.S202S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	202										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TCTGGAAGGCGCTAGAATACA	0.463																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(604-606)agC>agT		family with sequence similarity 92, member B		G		0,4396		0,0,2198	108.0	102.0	104.0		606	-11.6	0.0	16		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM92B	NM_198491.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		202/305	85135865	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	339145							g.chr16:85135865G>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.606C>T	16.37:g.85135865G>A							p.S202S	NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			7	761	-			202						Silent	SNP	ENST00000539556.1	37	c.606C>T	CCDS32500.1																																																																																				0.463	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		21	63	0	0	0	1	0	21	63				
TMCO6	55374	broad.mit.edu	37	5	140023734	140023734	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140023734G>A	ENST00000394671.3	+	10	1256	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	TMCO6_ENST00000537378.1_Silent_p.E145E|TMCO6_ENST00000252100.6_Silent_p.E391E|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	385					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGATTGAGCCTCTCTTAC	0.488																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1153-1155)gaG>gaA		transmembrane and coiled-coil domains 6							283.0	270.0	274.0					5																	140023734		1983	4179	6162	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023734G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1155G>A	5.37:g.140023734G>A						TMCO6_ENST00000537378.1_Silent_p.E145E|TMCO6_ENST00000252100.6_Silent_p.E391E|NDUFA2_ENST00000510680.1_Intron	p.E385E	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1256	+			385					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.1155G>A	CCDS4233.2																																																																																				0.488	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		8	147	0	0	0	1	0	8	147				
MARK2	2011	broad.mit.edu	37	11	63671554	63671554	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63671554C>T	ENST00000509502.2	+	15	1972	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	MARK2_ENST00000413835.2_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000315032.8_Silent_p.S537S|MARK2_ENST00000502399.3_Silent_p.S536S|MARK2_ENST00000402010.2_Silent_p.S537S|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000377809.4_Silent_p.S537S|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000513765.2_Silent_p.S504S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTCGGCCTCCGTGCACCCCA	0.687																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1609-1611)tcC>tcT		MAP/microtubule affinity-regulating kinase 2							16.0	19.0	18.0					11																	63671554		1840	4074	5914	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63671554C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1509C>T	11.37:g.63671554C>T						MARK2_ENST00000315032.8_Silent_p.S537S|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000377809.4_Silent_p.S537S|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000502399.3_Silent_p.S536S|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000513765.2_Silent_p.S504S|MARK2_ENST00000509502.2_Silent_p.S503S|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000408948.3_Intron	p.S537S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			15	2190	+			537						Silent	SNP	ENST00000509502.2	37	c.1611C>T	CCDS41665.1																																																																																				0.687	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		3	4	0	0	0	1	0	3	4				
HPSE	10855	broad.mit.edu	37	4	84230632	84230632	+	Missense_Mutation	SNP	G	G	A	rs535350287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84230632G>A	ENST00000405413.2	-	8	1043	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	HPSE_ENST00000513463.1_Missense_Mutation_p.R245W|HPSE_ENST00000512196.1_Missense_Mutation_p.R303W|HPSE_ENST00000311412.5_Missense_Mutation_p.R303W	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	303					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTAGCAGTCCGTCCATTCAAA	0.299																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(907-909)Cgg>Tgg		heparanase	Heparin(DB01109)						52.0	56.0	55.0					4																	84230632		2202	4294	6496	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84230632G>A	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.907C>T	4.37:g.84230632G>A	ENSP00000384262:p.Arg303Trp					HPSE_ENST00000512196.1_Missense_Mutation_p.R303W|HPSE_ENST00000311412.5_Missense_Mutation_p.R303W|HPSE_ENST00000513463.1_Missense_Mutation_p.R245W	p.R303W	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	8	1043	-		Hepatocellular(203;0.114)	303					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.907C>T	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270343	0.59540	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.83	3.98	0.46160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.121525	0.56097	D	0.000036	T	0.59945	0.2231	M	0.86343	2.81	0.47621	D	0.999477	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.976;0.994;0.989;0.994	T	0.69064	-0.5244	10	0.72032	D	0.01	-4.8725	14.5088	0.67769	0.0:0.0:0.8517:0.1483	.	303;245;245;303	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	W	303;303;303;245	ENSP00000308107:R303W;ENSP00000384262:R303W;ENSP00000423265:R303W;ENSP00000421365:R245W	ENSP00000308107:R303W	R	-	1	2	HPSE	84449656	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.855000	0.39378	1.365000	0.46057	0.591000	0.81541	CGG		0.299	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		10	24	0	0	0	1	0	10	24				
PRRC2B	84726	broad.mit.edu	37	9	134350236	134350236	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134350236G>A	ENST00000357304.4	+	15	2775	c.2720G>A	c.(2719-2721)aGc>aAc	p.S907N	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	907							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGAACGGGAGCCCCAACAAA	0.662																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2719-2721)aGc>aAc		proline-rich coiled-coil 2B							12.0	13.0	13.0					9																	134350236		1942	4130	6072	SO:0001583	missense	84726						protein binding	g.chr9:134350236G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2720G>A	9.37:g.134350236G>A	ENSP00000349856:p.Ser907Asn					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.S907N	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	2775	+			907					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2720G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.274734	0.01410	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.03004	4.08	5.61	2.79	0.32731	.	.	.	.	.	T	0.02649	0.0080	N	0.24115	0.695	0.53688	D	0.999979	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.50980	-0.8763	8	.	.	.	.	7.4277	0.27109	0.1926:0.1356:0.6719:0.0	.	203;907	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	N	907;203	ENSP00000349856:S907N	.	S	+	2	0	PRRC2B	133340057	0.030000	0.19436	0.679000	0.29978	0.046000	0.14306	0.310000	0.19356	0.322000	0.23283	0.655000	0.94253	AGC		0.662	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	6	0	0	0	1	0	5	6				
RARRES2	5919	broad.mit.edu	37	7	150036112	150036112	+	Missense_Mutation	SNP	C	C	T	rs369499714		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150036112C>T	ENST00000466675.1	-	3	1371	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000223271.3_Missense_Mutation_p.R113Q|RARRES2_ENST00000482669.1_Missense_Mutation_p.R113Q			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	113					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTGGACCAACCGGCCCAGAAC	0.597																																						ENST00000466675.1																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5						c.(337-339)cGg>cAg		retinoic acid receptor responder (tazarotene induced) 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	116.0	120.0		338	3.1	1.0	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	RARRES2	NM_002889.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	113/164	150036112	2,13004	2203	4300	6503	SO:0001583	missense	0				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150036112C>T	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.338G>A	7.37:g.150036112C>T	ENSP00000418009:p.Arg113Gln					RARRES2_ENST00000482669.1_Missense_Mutation_p.R113Q|RARRES2_ENST00000223271.3_Missense_Mutation_p.R113Q	p.R113Q			Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1371	-			113					Q7LE02	Missense_Mutation	SNP	ENST00000466675.1	37	c.338G>A	CCDS5902.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064705	0.20067	2.27E-4	1.16E-4	ENSG00000106538	ENST00000223271;ENST00000467793;ENST00000466675;ENST00000482669	.	.	.	4.04	3.06	0.35304	.	0.343063	0.20824	N	0.085013	T	0.19725	0.0474	L	0.41824	1.3	0.30553	N	0.765297	P	0.38745	0.645	B	0.19946	0.027	T	0.17258	-1.0375	9	0.41790	T	0.15	-41.824	5.9216	0.19086	0.0:0.8528:0.0:0.1472	.	113	Q99969	RARR2_HUMAN	Q	113	.	ENSP00000223271:R113Q	R	-	2	0	RARRES2	149667045	0.999000	0.42202	1.000000	0.80357	0.064000	0.16182	1.390000	0.34464	2.109000	0.64355	0.306000	0.20318	CGG		0.597	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			27	57	0	0	0	1	0	27	57				
ACSL5	51703	broad.mit.edu	37	10	114136074	114136074	+	5'UTR	SNP	G	G	A	rs199838168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114136074G>A	ENST00000354273.4	+	0	118				ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000356116.1_Missense_Mutation_p.A3T			Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTGCATGGACGCTCTGAAGCC	0.617																																						ENST00000356116.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(7-9)Gct>Act		acyl-CoA synthetase long-chain family member 5							85.0	90.0	88.0					10																	114136074		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114136074G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000354273.4:c.-162G>A	10.37:g.114136074G>A						ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000354273.4_5'UTR	p.A3T	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	1	119	+		Colorectal(252;0.117)|Breast(234;0.222)	0					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000354273.4	37	c.7G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631075	0.67015	.	.	ENSG00000197142	ENST00000356116	T	0.26223	1.75	4.93	0.622	0.17648	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.29027	-1.0025	8	0.87932	D	0	0.0042	2.7819	0.05363	0.0931:0.1396:0.3737:0.3937	.	3	Q9ULC5-3	.	T	3	ENSP00000348429:A3T	ENSP00000348429:A3T	A	+	1	0	ACSL5	114126064	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.092000	0.11129	0.016000	0.14998	-0.274000	0.10170	GCT		0.617	ACSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		21	37	0	0	0	1	0	21	37				
RNF31	55072	broad.mit.edu	37	14	24626800	24626800	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24626800C>T	ENST00000324103.6	+	16	3000	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	RNF31_ENST00000559275.1_Missense_Mutation_p.R743C|RNF31_ENST00000382687.3_Missense_Mutation_p.R743C|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R369C|RNA5SP383_ENST00000362934.1_RNA	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	894					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TACCCAGTGCCGCCACCAGTT	0.587																																						ENST00000558468.1																			0											c.(1105-1107)Cgc>Tgc									103.0	111.0	109.0					14																	24626800		2068	4213	6281	SO:0001583	missense	0							g.chr14:24626800C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2680C>T	14.37:g.24626800C>T	ENSP00000315112:p.Arg894Cys					RNF31_ENST00000324103.6_Missense_Mutation_p.R894C|RNF31_ENST00000559275.1_Missense_Mutation_p.R743C|RNF31_ENST00000382687.3_Missense_Mutation_p.R743C	p.R369C							8	1105	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1105C>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865660	0.71949	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.78246	-1.16;-1.16	5.36	5.36	0.76844	Zinc finger, C6HC-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.949;0.996;0.998	D	0.89176	0.3540	10	0.87932	D	0	-21.7758	13.5398	0.61668	0.1564:0.8436:0.0:0.0	.	894;653;894;743	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	C	327;894;743	ENSP00000315112:R894C;ENSP00000372134:R743C	ENSP00000315112:R894C	R	+	1	0	RNF31	23696640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.319000	0.43788	2.788000	0.95919	0.650000	0.86243	CGC		0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		49	66	0	0	0	1	0	49	66				
DNAH9	1770	broad.mit.edu	37	17	11650904	11650904	+	Missense_Mutation	SNP	G	G	A	rs118160421	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11650904G>A	ENST00000262442.4	+	32	6499	c.6431G>A	c.(6430-6432)cGg>cAg	p.R2144Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2144	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGCTGTGCGGCACTCTGTA	0.592													G|||	6	0.00119808	0.0	0.0	5008	,	,		16981	0.006		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6430-6432)cGg>cAg		dynein, axonemal, heavy chain 9							65.0	61.0	62.0					17																	11650904		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650904G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6431G>A	17.37:g.11650904G>A	ENSP00000262442:p.Arg2144Gln					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144Q	p.R2144Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6499	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2144			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6431G>A	CCDS11160.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	35	5.431022	0.96150	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.43294	0.95;0.95	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.76147	0.3947	H	0.99740	4.74	0.80722	D	1	D	0.63046	0.992	P	0.52957	0.714	D	0.88648	0.3180	10	0.87932	D	0	.	18.3812	0.90452	0.0:0.0:1.0:0.0	.	2144	Q9NYC9	DYH9_HUMAN	Q	2144;2144;726	ENSP00000262442:R2144Q;ENSP00000414874:R2144Q	ENSP00000262442:R2144Q	R	+	2	0	DNAH9	11591629	1.000000	0.71417	0.929000	0.37066	0.832000	0.47134	9.649000	0.98487	2.346000	0.79739	0.557000	0.71058	CGG		0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		15	23	0	0	0	1	0	15	23				
LRP5	4041	broad.mit.edu	37	11	68154117	68154117	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68154117G>A	ENST00000294304.7	+	6	1455	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	450	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCACCTCCCGCAAGATCCTG	0.701																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1348-1350)cGc>cAc		low density lipoprotein receptor-related protein 5							43.0	38.0	40.0					11																	68154117		2200	4293	6493	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68154117G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1349G>A	11.37:g.68154117G>A	ENSP00000294304:p.Arg450His						p.R450H	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1455	+			450			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1349G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811343	0.90707	.	.	ENSG00000162337	ENST00000294304	D	0.97553	-4.43	3.94	3.02	0.34903	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43919	U	0.000507	D	0.98058	0.9360	M	0.86953	2.85	0.58432	D	0.999992	D	0.69078	0.997	P	0.62491	0.903	D	0.98288	1.0512	10	0.87932	D	0	.	11.7661	0.51930	0.0872:0.0:0.9128:0.0	.	450	O75197	LRP5_HUMAN	H	450	ENSP00000294304:R450H	ENSP00000294304:R450H	R	+	2	0	LRP5	67910693	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.248000	0.95456	1.028000	0.39785	0.455000	0.32223	CGC		0.701	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		12	18	0	0	0	1	0	12	18				
PAPOLG	64895	broad.mit.edu	37	2	61006774	61006774	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61006774C>T	ENST00000238714.3	+	9	946	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	233					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTCTAGGACGTGGTATTTA	0.373																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(697-699)Cgt>Tgt		poly(A) polymerase gamma							110.0	107.0	108.0					2																	61006774		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61006774C>T	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.697C>T	2.37:g.61006774C>T	ENSP00000238714:p.Arg233Cys					PAPOLG_ENST00000483370.1_3'UTR	p.R233C	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		9	946	+	all_hematologic(2;0.0797)		233					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.697C>T	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082638	0.94050	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.82	5.82	0.92795	Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.88990	0.3414	9	0.87932	D	0	-1.2234	19.6901	0.95998	0.0:1.0:0.0:0.0	.	233	Q9BWT3	PAPOG_HUMAN	C	233	.	ENSP00000238714:R233C	R	+	1	0	PAPOLG	60860278	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.743000	0.85020	2.753000	0.94483	0.467000	0.42956	CGT		0.373	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		23	29	0	0	0	1	0	23	29				
ZNF486	90649	broad.mit.edu	37	19	20308730	20308730	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20308730A>G	ENST00000335117.8	+	4	1268	c.1211A>G	c.(1210-1212)aAa>aGa	p.K404R	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ACTGGAGAGAAACCCTACAAA	0.388																																						ENST00000335117.8																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1210-1212)aAa>aGa		zinc finger protein 486							33.0	36.0	35.0					19																	20308730		2187	4292	6479	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308730A>G	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1211A>G	19.37:g.20308730A>G	ENSP00000335042:p.Lys404Arg					CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	p.K404R	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN			4	1268	+			404					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.1211A>G	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	-	13.47	2.247745	0.39697	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.24908	1.83	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	N	0.26130	0.795	0.28439	N	0.91691	D	0.89917	1.0	D	0.91635	0.999	T	0.14090	-1.0485	9	0.59425	D	0.04	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	404	Q96H40	ZN486_HUMAN	R	443;404	ENSP00000335042:K404R	ENSP00000335042:K404R	K	+	2	0	ZNF486	20169730	0.236000	0.23804	0.858000	0.33744	0.858000	0.48976	0.212000	0.17497	0.166000	0.19597	0.164000	0.16699	AAA		0.388	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		24	32	0	0	0	1	0	24	32				
ATP2A1	487	broad.mit.edu	37	16	28913388	28913388	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28913388G>A	ENST00000357084.3	+	16	2572	c.2305G>A	c.(2305-2307)Gtg>Atg	p.V769M	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V644M|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V769M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	769					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCTCCAACGTGGGCGAGGT	0.617																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2305-2307)Gtg>Atg		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							140.0	102.0	114.0					16																	28913388		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913388G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2305G>A	16.37:g.28913388G>A	ENSP00000349595:p.Val769Met					ATP2A1_ENST00000357084.3_Missense_Mutation_p.V769M|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V644M	p.V769M	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			16	2489	+			769					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2305G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740429	0.89573	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98120	-4.73;-4.73;-4.73	5.17	5.17	0.71159	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	L	0.46885	1.475	0.80722	D	1	D;P;D	0.62365	0.991;0.921;0.962	P;B;P	0.53313	0.723;0.397;0.602	D	0.97967	1.0341	10	0.72032	D	0.01	.	17.7939	0.88564	0.0:0.0:1.0:0.0	.	644;769;769	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	769;769;806;644	ENSP00000349595:V769M;ENSP00000378879:V769M;ENSP00000443101:V644M	ENSP00000349595:V769M	V	+	1	0	ATP2A1	28820889	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.783000	0.99037	2.566000	0.86566	0.561000	0.74099	GTG		0.617	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		11	23	0	0	0	1	0	11	23				
ZNF607	84775	broad.mit.edu	37	19	38190090	38190090	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38190090G>A	ENST00000355202.4	-	5	1537	c.942C>T	c.(940-942)tgC>tgT	p.C314C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C313C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGCCCTTCCCGCATTCCTTGC	0.398																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(940-942)tgC>tgT		zinc finger protein 607							114.0	115.0	115.0					19																	38190090		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190090G>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.942C>T	19.37:g.38190090G>A						CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C313C	p.C314C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1537	-			314					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.942C>T	CCDS33006.1																																																																																				0.398	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		33	75	0	0	0	1	0	33	75				
HIVEP3	59269	broad.mit.edu	37	1	42046505	42046505	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42046505G>A	ENST00000372583.1	-	4	4849	c.3964C>T	c.(3964-3966)Cgt>Tgt	p.R1322C	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1322C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1322C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1322C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1322					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCTGAACACGGACAGGCACA	0.602																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3964-3966)Cgt>Tgt		human immunodeficiency virus type I enhancer binding protein 3							79.0	77.0	78.0					1																	42046505		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046505G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3964C>T	1.37:g.42046505G>A	ENSP00000361664:p.Arg1322Cys					HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1322C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1322C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1322C	p.R1322C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4978	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1322					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3964C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141621	0.57044	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.20598	2.1;2.06;2.06;2.1	5.19	5.19	0.71726	.	0.000000	0.51477	D	0.000099	T	0.48187	0.1486	M	0.79693	2.465	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50127	-0.8864	10	0.87932	D	0	-8.5151	13.456	0.61199	0.0:0.0:0.8433:0.1567	.	1322;1322	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	1322	ENSP00000361665:R1322C;ENSP00000361664:R1322C;ENSP00000247584:R1322C;ENSP00000410828:R1322C	ENSP00000247584:R1322C	R	-	1	0	HIVEP3	41819092	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.527000	0.60573	2.708000	0.92522	0.591000	0.81541	CGT		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	26	0	0	0	1	0	13	26				
PTPRR	5801	broad.mit.edu	37	12	71095090	71095090	+	Missense_Mutation	SNP	C	C	T	rs186568459	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:71095090C>T	ENST00000283228.2	-	7	1473	c.1021G>A	c.(1021-1023)Gta>Ata	p.V341I	PTPRR_ENST00000342084.4_Missense_Mutation_p.V229I|PTPRR_ENST00000378778.1_Missense_Mutation_p.V135I|PTPRR_ENST00000549308.1_Missense_Mutation_p.V96I|PTPRR_ENST00000440835.2_Missense_Mutation_p.V96I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	341					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTAAGAGATACGTTGGACCCT	0.408													C|||	3	0.000599042	0.0	0.0029	5008	,	,		18853	0.001		0.0	False		,,,				2504	0.0					ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1021-1023)Gta>Ata		protein tyrosine phosphatase, receptor type, R							98.0	86.0	90.0					12																	71095090		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095090C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1021G>A	12.37:g.71095090C>T	ENSP00000283228:p.Val341Ile					PTPRR_ENST00000378778.1_Missense_Mutation_p.V135I|PTPRR_ENST00000549308.1_Missense_Mutation_p.V96I|PTPRR_ENST00000440835.2_Missense_Mutation_p.V96I|PTPRR_ENST00000342084.4_Missense_Mutation_p.V229I	p.V341I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1473	-			341					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1021G>A	CCDS8998.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	27.7	4.859594	0.91433	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.24151	3.9;3.63;3.89;3.84;3.9;1.87	5.59	5.59	0.84812	.	0.000000	0.47455	D	0.000227	T	0.56630	0.1998	M	0.79693	2.465	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.979;0.987;0.991;0.979	T	0.59611	-0.7422	10	0.87932	D	0	-17.0238	19.956	0.97218	0.0:1.0:0.0:0.0	.	190;229;135;341	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	I	96;341;135;229;96;96	ENSP00000391750:V96I;ENSP00000283228:V341I;ENSP00000368054:V135I;ENSP00000339605:V229I;ENSP00000446943:V96I;ENSP00000449616:V96I	ENSP00000283228:V341I	V	-	1	0	PTPRR	69381357	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	6.911000	0.75746	2.788000	0.95919	0.557000	0.71058	GTA		0.408	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		36	53	0	0	0	1	0	36	53				
LPHN1	22859	broad.mit.edu	37	19	14270291	14270291	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14270291C>T	ENST00000340736.6	-	11	2257	c.1960G>A	c.(1960-1962)Gtc>Atc	p.V654I	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V649I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	654					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCTCCAGGACGTCGAGGAGC	0.637																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1960-1962)Gtc>Atc		latrophilin 1							44.0	41.0	42.0					19																	14270291		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14270291C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1960G>A	19.37:g.14270291C>T	ENSP00000340688:p.Val654Ile					CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V649I|CTB-55O6.12_ENST00000588387.1_RNA	p.V654I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			11	2257	-			654					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1960G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864472	0.51482	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.09723	2.95;2.95	5.13	2.79	0.32731	Domain of unknown function DUF3497 (1);	0.222720	0.37219	N	0.002184	T	0.04907	0.0132	N	0.12182	0.205	0.32411	N	0.550671	B;B	0.15930	0.001;0.015	B;B	0.10450	0.005;0.005	T	0.11036	-1.0604	10	0.36615	T	0.2	.	3.045	0.06151	0.0:0.5036:0.2684:0.228	.	649;654	O94910-2;O94910	.;LPHN1_HUMAN	I	654;649	ENSP00000340688:V654I;ENSP00000355328:V649I	ENSP00000340688:V654I	V	-	1	0	LPHN1	14131291	0.219000	0.23619	0.838000	0.33150	0.982000	0.71751	1.893000	0.39758	1.123000	0.41961	0.561000	0.74099	GTC		0.637	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	16	0	0	0	1	0	8	16				
FCGBP	8857	broad.mit.edu	37	19	40364195	40364195	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40364195C>T	ENST00000221347.6	-	31	14454	c.14447G>A	c.(14446-14448)cGc>cAc	p.R4816H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4816						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACTCACAGCGCCGCTCACA	0.662																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14446-14448)cGc>cAc		Fc fragment of IgG binding protein							31.0	34.0	33.0					19																	40364195		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364195C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14447G>A	19.37:g.40364195C>T	ENSP00000221347:p.Arg4816His						p.R4816H	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14454	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4816					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14447G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274221	0.23221	.	.	ENSG00000090920	ENST00000221347	T	0.05025	3.51	5.04	-4.84	0.03151	.	0.624433	0.14643	N	0.307064	T	0.04318	0.0119	L	0.48986	1.54	0.23016	N	0.998428	B	0.30236	0.274	B	0.20767	0.031	T	0.28459	-1.0043	10	0.39692	T	0.17	.	4.4119	0.11438	0.2382:0.3989:0.0:0.3629	.	4816	Q9Y6R7	FCGBP_HUMAN	H	4816	ENSP00000221347:R4816H	ENSP00000221347:R4816H	R	-	2	0	FCGBP	45056035	0.000000	0.05858	0.761000	0.31378	0.303000	0.27691	-0.726000	0.04936	-0.534000	0.06315	0.313000	0.20887	CGC		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	27	0	0	0	1	0	6	27				
JAZF1	221895	broad.mit.edu	37	7	27872571	27872571	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27872571C>T	ENST00000283928.5	-	5	745	c.580G>A	c.(580-582)Gct>Act	p.A194T	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	194					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CCATTCTTAGCGTGATACTTT	0.443			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(580-582)Gct>Act		JAZF zinc finger 1							110.0	95.0	100.0					7																	27872571		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872571C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.580G>A	7.37:g.27872571C>T	ENSP00000283928:p.Ala194Thr					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron	p.A194T	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			5	745	-			194					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.580G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881714	0.72294	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	T;T;T	0.42131	0.98;0.98;0.98	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045757	0.85682	D	0.000000	T	0.53997	0.1831	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.49041	-0.8980	10	0.41790	T	0.15	-12.9664	19.9142	0.97043	0.0:1.0:0.0:0.0	.	194	Q86VZ6	JAZF1_HUMAN	T	194;161;170	ENSP00000283928:A194T;ENSP00000387976:A161T;ENSP00000415096:A170T	ENSP00000283928:A194T	A	-	1	0	JAZF1	27839096	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GCT		0.443	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		16	31	0	0	0	1	0	16	31				
ABHD17B	51104	broad.mit.edu	37	9	74489562	74489562	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:74489562G>A	ENST00000333421.6	-	2	546	c.435C>T	c.(433-435)gaC>gaT	p.D145D	ABHD17B_ENST00000377041.2_Silent_p.D145D	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	145						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CAGCTTCAATGTCTGCATAGA	0.378																																						ENST00000333421.6																			0											c.(433-435)gaC>gaT		abhydrolase domain containing 17B							63.0	60.0	61.0					9																	74489562		2203	4300	6503	SO:0001819	synonymous_variant	51104							g.chr9:74489562G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.435C>T	9.37:g.74489562G>A						ABHD17B_ENST00000377041.2_Silent_p.D145D	p.D145D	NM_001025780.1	NP_001020951.1					2	546	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Silent	SNP	ENST00000333421.6	37	c.435C>T	CCDS35043.1																																																																																				0.378	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		16	51	0	0	0	1	0	16	51				
ZNF142	7701	broad.mit.edu	37	2	219503083	219503083	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219503083G>A	ENST00000449707.1	-	10	5464	c.5043C>T	c.(5041-5043)ccC>ccT	p.P1681P	ZNF142_ENST00000411696.2_Silent_p.P1681P	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCAGTGTGGGGAGCGGCAG	0.627																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(5041-5043)ccC>ccT		zinc finger protein 142							23.0	25.0	25.0					2																	219503083		2023	4187	6210	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503083G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.5043C>T	2.37:g.219503083G>A						ZNF142_ENST00000449707.1_Silent_p.P1681P	p.P1681P			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5822	-		Renal(207;0.0474)	1681					Q92510	Silent	SNP	ENST00000449707.1	37	c.5043C>T	CCDS42817.1																																																																																				0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	11	0	0	0	1	0	7	11				
ATP4A	495	broad.mit.edu	37	19	36051292	36051292	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36051292C>T	ENST00000262623.3	-	6	788	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	254					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAGAAGAAGGCGATGTTGCGG	0.627																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(760-762)Gcc>Acc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96.0	98.0	97.0					19																	36051292		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051292C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.760G>A	19.37:g.36051292C>T	ENSP00000262623:p.Ala254Thr						p.A254T	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	788	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		254					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.760G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.045544	0.75846	.	.	ENSG00000105675	ENST00000262623	D	0.91011	-2.77	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000005	D	0.91030	0.7178	M	0.86740	2.835	0.80722	D	1	P	0.40250	0.709	B	0.37692	0.256	D	0.91999	0.5609	10	0.48119	T	0.1	.	14.3183	0.66468	0.0:1.0:0.0:0.0	.	254	P20648	ATP4A_HUMAN	T	254	ENSP00000262623:A254T	ENSP00000262623:A254T	A	-	1	0	ATP4A	40743132	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.866000	0.69590	2.314000	0.78098	0.486000	0.48141	GCC		0.627	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		21	44	0	0	0	1	0	21	44				
ABLIM1	3983	broad.mit.edu	37	10	116207736	116207736	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116207736C>T	ENST00000277895.5	-	15	1735	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	ABLIM1_ENST00000369252.4_Silent_p.K486K|ABLIM1_ENST00000369266.3_Silent_p.K223K|ABLIM1_ENST00000392952.3_Silent_p.K223K|ABLIM1_ENST00000369253.2_Silent_p.K169K|ABLIM1_ENST00000533213.2_Silent_p.K486K	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	546					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACTTGGAAAACTTGATGATAT	0.542																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1456-1458)aaG>aaA		actin binding LIM protein 1							142.0	126.0	132.0					10																	116207736		2203	4300	6503	SO:0001819	synonymous_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207736C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1638G>A	10.37:g.116207736C>T						ABLIM1_ENST00000369266.3_Silent_p.K223K|ABLIM1_ENST00000533213.2_Silent_p.K486K|ABLIM1_ENST00000277895.5_Silent_p.K546K|ABLIM1_ENST00000392952.3_Silent_p.K223K|ABLIM1_ENST00000369253.2_Silent_p.K169K	p.K486K	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1759	-		Colorectal(252;0.0373)|Breast(234;0.231)	546					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	c.1458G>A	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272210	0.23221	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.65512	0.2698	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62666	-0.6806	4	.	.	.	.	13.3387	0.60533	0.0:0.9282:0.0:0.0718	.	.	.	.	N	420	.	.	S	-	2	0	ABLIM1	116197726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.125000	0.50469	2.749000	0.94314	0.655000	0.94253	AGT		0.542	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			13	41	0	0	0	1	0	13	41				
TPP1	1200	broad.mit.edu	37	11	6638248	6638248	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6638248G>A	ENST00000533371.1	-	0	714				TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Silent_p.D215D			P49638	TTPA_HUMAN	tripeptidyl peptidase I						embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CAGAGCCCACGTCTTGTGAGG	0.587																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23								tripeptidyl peptidase I							126.0	108.0	114.0					11																	6638248		2201	4296	6497			1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6638248G>A	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000533371.1:c.-85C>T	11.37:g.6638248G>A						TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000299427.6_Silent_p.D215D				O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	0	714	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)						Q71V64	Translation_Start_Site	SNP	ENST00000533371.1	37																																																																																						0.587	TPP1-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000384527.1			17	15	0	0	0	1	0	17	15				
ZSCAN2	54993	broad.mit.edu	37	15	85164690	85164690	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85164690G>A	ENST00000448803.2	+	3	1556	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E421K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E422K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E272K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	422					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCAGTGCAGCGAGTGTGGGAA	0.567																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1264-1266)Gag>Aag		zinc finger and SCAN domain containing 2							76.0	69.0	72.0					15																	85164690		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164690G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1264G>A	15.37:g.85164690G>A	ENSP00000410198:p.Glu422Lys					ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E422K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E421K|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E272K|ZSCAN2_ENST00000485222.2_Intron	p.E422K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1556	+			422					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1264G>A	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645267	0.47258	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35605	1.3;1.3;3.2;1.3	4.75	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108239	0.41194	D	0.000937	T	0.32823	0.0842	N	0.11154	0.105	0.80722	D	1	D;P	0.69078	0.997;0.862	P;B	0.60415	0.874;0.136	T	0.07404	-1.0774	9	.	.	.	-33.9113	12.0421	0.53458	0.0:0.1758:0.8242:0.0	.	422;422	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	422;422;272;421;403	ENSP00000410198:E422K;ENSP00000445451:E422K;ENSP00000351257:E272K;ENSP00000325123:E421K	.	E	+	1	0	ZSCAN2	82965694	0.031000	0.19500	0.914000	0.36105	0.340000	0.28889	1.015000	0.29963	2.167000	0.68274	0.655000	0.94253	GAG		0.567	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		8	44	0	0	0	1	0	8	44				
TXNRD1	7296	broad.mit.edu	37	12	104721433	104721433	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104721433C>T	ENST00000529546.1	+	10	1187	c.962C>T	c.(961-963)gCa>gTa	p.A321V	TXNRD1_ENST00000542918.1_Missense_Mutation_p.A409V|TXNRD1_ENST00000354940.6_Missense_Mutation_p.A359V|TXNRD1_ENST00000525566.1_Missense_Mutation_p.A509V|TXNRD1_ENST00000526390.1_Missense_Mutation_p.A403V|TXNRD1_ENST00000524698.1_Missense_Mutation_p.A359V|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A458V|TXNRD1_ENST00000397736.2_Missense_Mutation_p.A403V|TXNRD1_ENST00000427956.1_Missense_Mutation_p.A474V|TXNRD1_ENST00000526950.1_Missense_Mutation_p.A428V|TXNRD1_ENST00000503506.2_Missense_Mutation_p.A359V|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A411V|TXNRD1_ENST00000540716.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000526691.1_Missense_Mutation_p.A411V|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A509V			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	509					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AGGCTCTATGCAGGTTCCACT	0.488																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(1231-1233)gCa>gTa		thioredoxin reductase 1							90.0	89.0	89.0					12																	104721433		2001	4179	6180	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104721433C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.962C>T	12.37:g.104721433C>T	ENSP00000434919:p.Ala321Val					TXNRD1_ENST00000526950.1_Missense_Mutation_p.A428V|TXNRD1_ENST00000526390.1_Missense_Mutation_p.A403V|TXNRD1_ENST00000525566.1_Missense_Mutation_p.A509V|TXNRD1_ENST00000524698.1_Missense_Mutation_p.A359V|TXNRD1_ENST00000503506.2_Missense_Mutation_p.A359V|TXNRD1_ENST00000427956.1_Missense_Mutation_p.A474V|TXNRD1_ENST00000397736.2_Missense_Mutation_p.A403V|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A411V|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A458V|TXNRD1_ENST00000354940.6_Missense_Mutation_p.A359V|TXNRD1_ENST00000542918.1_Missense_Mutation_p.A409V|TXNRD1_ENST00000540716.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000529546.1_Missense_Mutation_p.A321V|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A509V	p.A411V	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			11	1688	+			509					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1232C>T	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517465	0.44763	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.39;-0.39;-0.49;-0.49;-0.49;-0.49;-0.49;-0.3;-0.3;-0.49;-0.49;-0.41;-0.49;-0.51;-0.5	5.41	-6.43	0.01926	Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.765736	0.12515	N	0.462200	T	0.72692	0.3492	M	0.78285	2.405	0.09310	N	0.999998	B;B;B;B;B;B;B	0.33103	0.166;0.087;0.397;0.076;0.005;0.136;0.087	B;B;B;B;B;B;B	0.21708	0.023;0.015;0.036;0.034;0.009;0.026;0.021	T	0.62077	-0.6930	10	0.87932	D	0	-2.3219	31.1588	0.99999	0.0:0.1428:0.8572:0.0	.	409;403;509;411;359;509;474	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	V	509;509;359;411;411;359;403;321;321;359;409;458;403;474;428	ENSP00000434516:A509V;ENSP00000412045:A509V;ENSP00000421934:A359V;ENSP00000435929:A411V;ENSP00000373506:A411V;ENSP00000347020:A359V;ENSP00000435123:A403V;ENSP00000434919:A321V;ENSP00000442709:A321V;ENSP00000433425:A359V;ENSP00000440978:A409V;ENSP00000367310:A458V;ENSP00000380844:A403V;ENSP00000393328:A474V;ENSP00000432812:A428V	ENSP00000347020:A359V	A	+	2	0	TXNRD1	103245563	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.518000	0.06267	-1.122000	0.02945	0.579000	0.79373	GCA		0.488	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		9	12	0	0	0	1	0	9	12				
DNAH1	25981	broad.mit.edu	37	3	52429586	52429586	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52429586G>A	ENST00000420323.2	+	70	11412	c.11151G>A	c.(11149-11151)atG>atA	p.M3717I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3782	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCATGATGCGCAGCTCCA	0.637																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11149-11151)atG>atA		dynein, axonemal, heavy chain 1							56.0	63.0	60.0					3																	52429586		2043	4214	6257	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429586G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11151G>A	3.37:g.52429586G>A	ENSP00000401514:p.Met3717Ile						p.M3717I	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	70	11412	+			3782			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11151G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	4.810	0.150592	0.09185	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.04758	3.56	4.38	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.02012	0.0063	N	0.04148	-0.265	0.38923	D	0.95777	B;B	0.32467	0.015;0.372	B;B	0.30855	0.028;0.121	T	0.43196	-0.9406	10	0.02654	T	1	.	10.8391	0.46704	0.0881:0.0:0.9119:0.0	.	3717;3782	C9JXH6;Q9P2D7-2	.;.	I	3717;470	ENSP00000401514:M3717I	ENSP00000273600:M470I	M	+	3	0	DNAH1	52404626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.120000	0.50430	1.055000	0.40461	0.655000	0.94253	ATG		0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	30	0	0	0	1	0	12	30				
CARD11	84433	broad.mit.edu	37	7	2959037	2959037	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2959037G>T	ENST00000396946.4	-	18	2882	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	827					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCATATCCAGGTCATGGTCT	0.612			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2479-2481)Ctg>Atg		caspase recruitment domain family, member 11							78.0	68.0	71.0					7																	2959037		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2959037G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2479C>A	7.37:g.2959037G>T	ENSP00000380150:p.Leu827Met						p.L827M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	18	2882	-		Ovarian(82;0.0115)	827					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2479C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325404	0.41197	.	.	ENSG00000198286	ENST00000396946	T	0.38560	1.13	4.94	4.94	0.65067	.	0.177875	0.38058	N	0.001821	T	0.49729	0.1574	L	0.32530	0.975	0.43588	D	0.995934	D	0.89917	1.0	D	0.81914	0.995	T	0.49000	-0.8984	10	0.56958	D	0.05	-12.5177	9.369	0.38241	0.1606:0.0:0.8394:0.0	.	827	Q9BXL7	CAR11_HUMAN	M	827	ENSP00000380150:L827M	ENSP00000380150:L827M	L	-	1	2	CARD11	2925563	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	2.761000	0.47589	2.451000	0.82905	0.561000	0.74099	CTG		0.612	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		18	20	1	0	0.00887093	1	0.00896369	18	20				
LAMA4	3910	broad.mit.edu	37	6	112443257	112443257	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112443257G>A	ENST00000230538.7	-	32	4832	c.4435C>T	c.(4435-4437)Cgc>Tgc	p.R1479C	LAMA4_ENST00000424408.2_Missense_Mutation_p.R1472C|LAMA4_ENST00000389463.4_Missense_Mutation_p.R1472C|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1472C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1479	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACTCTTGGCGGCTGTTGGCT	0.458																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(4435-4437)Cgc>Tgc		laminin, alpha 4							203.0	191.0	195.0					6																	112443257		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112443257G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4435C>T	6.37:g.112443257G>A	ENSP00000230538:p.Arg1479Cys					LAMA4_ENST00000389463.4_Missense_Mutation_p.R1472C|LAMA4_ENST00000424408.2_Missense_Mutation_p.R1472C|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1472C	p.R1479C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	32	4832	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1479			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4435C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731366	0.89390	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.048933	0.85682	D	0.000000	T	0.32466	0.0830	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66196	0.877;0.942	T	0.01341	-1.1380	10	0.46703	T	0.11	.	19.2862	0.94072	0.0:0.0:1.0:0.0	.	1479;1472	Q16363;Q16363-2	LAMA4_HUMAN;.	C	1479;1472;1472;1472	ENSP00000230538:R1479C;ENSP00000429488:R1472C;ENSP00000374114:R1472C;ENSP00000416470:R1472C	ENSP00000230538:R1479C	R	-	1	0	LAMA4	112549950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.021000	0.70832	2.644000	0.89710	0.561000	0.74099	CGC		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		32	65	0	0	0	1	0	32	65				
NFKB1	4790	broad.mit.edu	37	4	103500131	103500131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103500131C>T	ENST00000505458.1	+	8	939	c.662C>T	c.(661-663)cCg>cTg	p.P221L	NFKB1_ENST00000600343.1_Missense_Mutation_p.P41L|NFKB1_ENST00000226574.4_Missense_Mutation_p.P222L|NFKB1_ENST00000394820.4_Missense_Mutation_p.P221L|NFKB1_ENST00000510638.1_3'UTR			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	221	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTTTTCTTCCGGATAGCACT	0.547																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(664-666)cCg>cTg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						119.0	106.0	110.0					4																	103500131		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103500131C>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.662C>T	4.37:g.103500131C>T	ENSP00000424790:p.Pro221Leu					NFKB1_ENST00000600343.1_Missense_Mutation_p.P41L|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.P221L|NFKB1_ENST00000394820.4_Missense_Mutation_p.P221L	p.P222L	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	8	1132	+		Hepatocellular(203;0.217)	221			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.665C>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576141	0.86645	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.51	5.51	0.81932	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	L	0.48986	1.54	0.80722	D	1	P;P;P	0.52463	0.614;0.953;0.85	B;B;B	0.42138	0.052;0.377;0.225	T	0.29912	-0.9996	10	0.06625	T	0.88	.	19.4077	0.94655	0.0:1.0:0.0:0.0	.	41;221;222	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	L	222;221;221;15	ENSP00000226574:P222L;ENSP00000378297:P221L;ENSP00000424790:P221L;ENSP00000424815:P15L	ENSP00000226574:P222L	P	+	2	0	NFKB1	103719169	0.997000	0.39634	0.873000	0.34254	0.985000	0.73830	3.748000	0.55142	2.589000	0.87451	0.585000	0.79938	CCG		0.547	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			23	29	0	0	0	1	0	23	29				
TRIO	7204	broad.mit.edu	37	5	14287024	14287024	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14287024G>A	ENST00000344204.4	+	4	416	c.392G>A	c.(391-393)cGt>cAt	p.R131H	TRIO_ENST00000537187.1_Missense_Mutation_p.R131H|TRIO_ENST00000509967.2_Missense_Mutation_p.R82H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	131	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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)			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)					GTGGACATGCGTGGGTCCAAG	0.557																																						ENST00000344204.4																			0				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						c.(391-393)cGt>cAt		trio Rho guanine nucleotide exchange factor							110.0	98.0	102.0					5																	14287024		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.chr5:14287024G>A	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.392G>A	5.37:g.14287024G>A	ENSP00000339299:p.Arg131His					TRIO_ENST00000537187.1_Missense_Mutation_p.R131H|TRIO_ENST00000509967.2_Missense_Mutation_p.R82H	p.R131H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	416	+	Lung NSC(4;0.000742)		131			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.392G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712692	0.89112	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63096	-0.02;-0.02;-0.02	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87501	0.2433	10	0.87932	D	0	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	82;131	F5H228;O75962	.;TRIO_HUMAN	H	131;131;82	ENSP00000339299:R131H;ENSP00000446348:R131H;ENSP00000445592:R82H	ENSP00000339299:R131H	R	+	2	0	TRIO	14340024	1.000000	0.71417	0.966000	0.40874	0.932000	0.56968	9.869000	0.99810	2.616000	0.88540	0.585000	0.79938	CGT		0.557	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		32	40	0	0	0	1	0	32	40				
AIF1	199	broad.mit.edu	37	6	31583099	31583099	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31583099G>A	ENST00000376059.3	+	0	139				AIF1_ENST00000376049.4_5'Flank	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1						actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						ACCAGCATCTGCTGAGCTATG	0.572																																					Ovarian(23;358 734 36938 38933 52312)	ENST00000376059.3																			0				lung(2)|ovary(1)	3								allograft inflammatory factor 1							54.0	48.0	50.0					6																	31583099		2203	4300	6503			199				actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	g.chr6:31583099G>A	U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"""EF-hand domain containing"""	352	protein-coding gene	gene with protein product	"""interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1"""	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.-8G>A	6.37:g.31583099G>A								NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN			0	139	+								A8K406|O43904|Q9UIV4|Q9UKS9	Translation_Start_Site	SNP	ENST00000376059.3	37		CCDS4706.1																																																																																				0.572	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3			11	29	0	0	0	1	0	11	29				
CD2AP	23607	broad.mit.edu	37	6	47512358	47512358	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47512358G>T	ENST00000359314.5	+	4	792	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	112	Interaction with ANLN and localization to the midbody.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAAGCGTCAGTGTAAAGTTC	0.308																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(334-336)caG>caT		CD2-associated protein							104.0	105.0	105.0					6																	47512358		2203	4297	6500	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47512358G>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.336G>T	6.37:g.47512358G>T	ENSP00000352264:p.Gln112His						p.Q112H	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		4	792	+			112			Interaction with ANLN and localization to the midbody.|SH3 2.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.336G>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642140	0.67244	.	.	ENSG00000198087	ENST00000359314	T	0.30182	1.54	5.62	2.85	0.33270	Src homology-3 domain (3);	0.252713	0.41001	D	0.000972	T	0.39091	0.1065	M	0.76727	2.345	0.58432	D	0.999999	D	0.57257	0.979	D	0.65684	0.937	T	0.33420	-0.9869	10	0.56958	D	0.05	-11.6818	10.2624	0.43434	0.2235:0.0:0.7765:0.0	.	112	Q9Y5K6	CD2AP_HUMAN	H	112	ENSP00000352264:Q112H	ENSP00000352264:Q112H	Q	+	3	2	CD2AP	47620317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	0.719000	0.32188	0.655000	0.94253	CAG		0.308	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			17	37	1	0	1.67942e-08	1	1.77343e-08	17	37				
SLC19A1	6573	broad.mit.edu	37	21	46951819	46951819	+	Missense_Mutation	SNP	G	G	A	rs375248262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:46951819G>A	ENST00000311124.4	-	3	585	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	SLC19A1_ENST00000567670.1_Missense_Mutation_p.R145W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R105W|SLC19A1_ENST00000380010.4_Missense_Mutation_p.R145W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	145					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CGCGCGGGCCGCACGAGAGAG	0.672																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(433-435)Cgg>Tgg		solute carrier family 19 (folate transporter), member 1		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4352		0,0,2176	20.0	20.0	20.0		433,313,433	-3.4	0.0	21		20	1,8567		0,1,4283	no	missense,missense,missense	SLC19A1	NM_001205206.1,NM_001205207.1,NM_194255.2	101,101,101	0,1,6459	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	145/490,105/552,145/592	46951819	1,12919	2176	4284	6460	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951819G>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.433C>T	21.37:g.46951819G>A	ENSP00000308895:p.Arg145Trp					SLC19A1_ENST00000380010.4_Missense_Mutation_p.R145W|SLC19A1_ENST00000567670.1_Missense_Mutation_p.R145W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R105W	p.R145W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	585	-			145					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.433C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905629	0.33628	0.0	1.17E-4	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;0.27;0.35	4.95	-3.38	0.04883	Major facilitator superfamily domain, general substrate transporter (1);	1.132380	0.06447	N	0.726989	T	0.82015	0.4945	L	0.51422	1.61	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.68765	0.96;0.96;0.932;0.96	T	0.69803	-0.5046	10	0.72032	D	0.01	-9.1009	1.7831	0.03036	0.2338:0.1038:0.1676:0.4948	.	105;167;145;145	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	W	145;145;105;145;145	ENSP00000308895:R145W;ENSP00000369347:R145W;ENSP00000441772:R105W;ENSP00000401850:R145W;ENSP00000411345:R145W	ENSP00000308895:R145W	R	-	1	2	SLC19A1	45776247	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	0.431000	0.21444	-0.307000	0.08804	-0.521000	0.04368	CGG		0.672	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			6	0	0	0	0	1	0	6	0				
ENG	2022	broad.mit.edu	37	9	130578318	130578318	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130578318C>A	ENST00000373203.4	-	14	2156	c.1756G>T	c.(1756-1758)Ggc>Tgc	p.G586C	ENG_ENST00000344849.3_Missense_Mutation_p.G586C|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'Flank|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	586					artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGGACGAGGCCTTTGCTTGTG	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(1756-1758)Ggc>Tgc		endoglin							85.0	65.0	72.0					9																	130578318		2201	4300	6501	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130578318C>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1756G>T	9.37:g.130578318C>A	ENSP00000362299:p.Gly586Cys					ENG_ENST00000373203.4_Missense_Mutation_p.G586C	p.G586C			P17813	EGLN_HUMAN			14	2036	-			586					Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.1756G>T	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018871	0.54576	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.63913	-0.07;0.65	5.29	0.494	0.16884	.	0.605099	0.16277	N	0.221529	T	0.61248	0.2332	L	0.29908	0.895	0.30965	N	0.72321	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.60910	-0.7169	10	0.87932	D	0	-1.215	5.4384	0.16494	0.0:0.6958:0.137:0.1672	.	586;586	Q5T9B9;P17813	.;EGLN_HUMAN	C	586;586;586;404	ENSP00000362299:G586C;ENSP00000341917:G586C	ENSP00000341917:G586C	G	-	1	0	ENG	129618139	0.979000	0.34478	0.320000	0.25306	0.892000	0.51952	1.833000	0.39161	-0.199000	0.10317	0.462000	0.41574	GGC		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			4	7	1	0	0.00024832	1	0.000253518	4	7				
CHST1	8534	broad.mit.edu	37	11	45671748	45671748	+	Silent	SNP	C	C	T	rs111740567		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45671748C>T	ENST00000308064.2	-	4	1396	c.726G>A	c.(724-726)tcG>tcA	p.S242S	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	242					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCGCTGCGCGAAGCCAGAA	0.657																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(724-726)tcG>tcA		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							53.0	51.0	52.0					11																	45671748		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671748C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.726G>A	11.37:g.45671748C>T							p.S242S	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1396	-			242					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.726G>A	CCDS7913.1																																																																																				0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		15	31	0	0	0	1	0	15	31				
GPR153	387509	broad.mit.edu	37	1	6314106	6314106	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6314106C>A	ENST00000377893.2	-	3	717	c.458G>T	c.(457-459)aGc>aTc	p.S153I		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAAGCGCTCGCTGGTGTCGTG	0.632																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(457-459)aGc>aTc		G protein-coupled receptor 153							65.0	70.0	68.0					1																	6314106		2202	4299	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314106C>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.458G>T	1.37:g.6314106C>A	ENSP00000367125:p.Ser153Ile						p.S153I	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	717	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	153					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.458G>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163728	0.21538	.	.	ENSG00000158292	ENST00000377893	T	0.72835	-0.69	5.03	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.473118	0.23624	N	0.046201	T	0.47414	0.1444	N	0.08118	0	0.22280	N	0.999235	B	0.19331	0.035	B	0.21151	0.033	T	0.41360	-0.9513	10	0.48119	T	0.1	-22.8302	8.7564	0.34648	0.0:0.3852:0.5181:0.0966	.	153	Q6NV75	GP153_HUMAN	I	153	ENSP00000367125:S153I	ENSP00000367125:S153I	S	-	2	0	GPR153	6236693	0.061000	0.20836	0.020000	0.16555	0.656000	0.38851	0.829000	0.27449	0.530000	0.28619	-0.232000	0.12228	AGC		0.632	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			14	29	1	0	0.000219431	1	0.000224427	14	29				
SETD1A	9739	broad.mit.edu	37	16	30992103	30992103	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30992103G>T	ENST00000262519.8	+	16	5311	c.4625G>T	c.(4624-4626)cGg>cTg	p.R1542L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1542					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAGCAGCGGCGGCTGCTGAGC	0.672																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4624-4626)cGg>cTg		SET domain containing 1A							33.0	36.0	35.0					16																	30992103		2195	4295	6490	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30992103G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4625G>T	16.37:g.30992103G>T	ENSP00000262519:p.Arg1542Leu						p.R1542L	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			16	5311	+			1542					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4625G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696194	0.48202	.	.	ENSG00000099381	ENST00000262519	D	0.95788	-3.81	5.21	5.21	0.72293	COMPASS complex Set1 subunit, N-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98429	1.0581	10	0.72032	D	0.01	.	17.5065	0.87747	0.0:0.0:1.0:0.0	.	1542	O15047	SET1A_HUMAN	L	1542	ENSP00000262519:R1542L	ENSP00000262519:R1542L	R	+	2	0	SETD1A	30899604	1.000000	0.71417	0.998000	0.56505	0.328000	0.28507	9.751000	0.98889	2.417000	0.82017	0.544000	0.68410	CGG		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		16	23	1	0	8.00594e-06	1	8.29589e-06	16	23				
DDOST	1650	broad.mit.edu	37	1	20987418	20987418	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20987418T>C	ENST00000375048.3	-	2	377	c.272A>G	c.(271-273)gAa>gGa	p.E91G	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Missense_Mutation_p.E74G|DDOST_ENST00000415136.2_Intron	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATAGAGGAATTCCCCATACTT	0.507																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(271-273)gAa>gGa		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							71.0	69.0	70.0					1																	20987418		2203	4300	6503	SO:0001583	missense	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20987418T>C	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.272A>G	1.37:g.20987418T>C	ENSP00000364188:p.Glu91Gly					DDOST_ENST00000415136.2_Intron|DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000602624.2_Missense_Mutation_p.E74G	p.E91G	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	377	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	91					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	37	c.272A>G	CCDS212.1	.	.	.	.	.	.	.	.	.	.	T	35	5.463627	0.96257	.	.	ENSG00000244038	ENST00000375048	T	0.80393	-1.37	5.1	5.1	0.69264	.	0.053951	0.64402	D	0.000001	D	0.90597	0.7052	M	0.91249	3.19	0.80722	D	1	D;P	0.57571	0.98;0.56	P;P	0.61592	0.891;0.521	D	0.92636	0.6120	10	0.66056	D	0.02	-34.5713	15.2238	0.73333	0.0:0.0:0.0:1.0	.	91;91	B4DLI2;P39656	.;OST48_HUMAN	G	91	ENSP00000364188:E91G	ENSP00000364188:E91G	E	-	2	0	DDOST	20860005	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.953000	0.87836	2.061000	0.61500	0.533000	0.62120	GAA		0.507	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		4	71	0	0	0	1	0	4	71				
TRAM2	9697	broad.mit.edu	37	6	52380805	52380805	+	Splice_Site	SNP	G	G	A	rs201183470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52380805G>A	ENST00000182527.3	-	4	409	c.410C>T	c.(409-411)aCg>aTg	p.T137M	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	137	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ATGGCTCACCGTCACCACCAC	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0					ENST00000182527.3																			0				endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.e4+1		translocation associated membrane protein 2		G	MET/THR	0,4406		0,0,2203	173.0	154.0	161.0		410	4.6	1.0	6		161	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	TRAM2	NM_012288.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	137/371	52380805	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52380805G>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.411+1C>T	6.37:g.52380805G>A						EFHC1_ENST00000433625.2_Intron	p.T137_splice	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN			4	409	-	Lung NSC(77;0.109)		137			TLC.		A8K6T6	Splice_Site	SNP	ENST00000182527.3	37	c.411_splice	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019819	0.75275	0.0	2.33E-4	ENSG00000065308	ENST00000182527	D	0.85484	-1.99	5.46	4.59	0.56863	TRAM/LAG1/CLN8 homology domain (3);	0.189789	0.56097	D	0.000027	D	0.88665	0.6498	M	0.63428	1.95	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.88845	0.3315	10	0.56958	D	0.05	.	13.3209	0.60432	0.0765:0.0:0.9235:0.0	.	137	Q15035	TRAM2_HUMAN	M	137	ENSP00000182527:T137M	ENSP00000182527:T137M	T	-	2	0	TRAM2	52488764	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.479000	0.66813	2.557000	0.86248	0.655000	0.94253	ACG		0.498	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	Missense_Mutation	48	60	0	0	0	1	0	48	60				
PTPN11	5781	broad.mit.edu	37	12	112924336	112924336	+	Missense_Mutation	SNP	G	G	A	rs397507536		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112924336G>A	ENST00000351677.2	+	11	1480	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	432	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.V428M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGACCACGGCGTGCCCAGCGA	0.572			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		1	Substitution - Missense(1)	p.V428M(1)	lung(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1282-1284)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 11							48.0	46.0	47.0					12																	112924336		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112924336G>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1282G>A	12.37:g.112924336G>A	ENSP00000340944:p.Val428Met					PTPN11_ENST00000392597.1_Missense_Mutation_p.V428M	p.V428M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			11	1480	+			432			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1282G>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083546	0.94050	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99445	-5.91;-5.91	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96945	0.9690	10	0.87932	D	0	.	18.6833	0.91554	0.0:0.0:1.0:0.0	.	428;428	Q06124-2;Q06124-3	.;.	M	428	ENSP00000376376:V428M;ENSP00000340944:V428M	ENSP00000340944:V428M	V	+	1	0	PTPN11	111408719	1.000000	0.71417	0.953000	0.39169	0.829000	0.46940	9.476000	0.97823	2.406000	0.81754	0.563000	0.77884	GTG		0.572	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			13	14	0	0	0	1	0	13	14				
DCTN1	1639	broad.mit.edu	37	2	74605347	74605347	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74605347G>A	ENST00000361874.3	-	2	376	c.59C>T	c.(58-60)gCg>gTg	p.A20V	DCTN1_ENST00000409567.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A3V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A3V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A20V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	20					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTTGCCTCCGCACTCATCCT	0.562																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(58-60)gCg>gTg		dynactin 1							44.0	47.0	46.0					2																	74605347		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605347G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.59C>T	2.37:g.74605347G>A	ENSP00000354791:p.Ala20Val					DCTN1_ENST00000394003.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A20V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A3V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A3V	p.A20V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			2	376	-			20					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.59C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236616	0.39498	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090;ENST00000437375;ENST00000413111;ENST00000421392;ENST00000440727;ENST00000449655	T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.99	4.99	0.66335	Cytoskeleton-associated protein, Gly-rich domain (2);	0.749194	0.11379	N	0.569988	T	0.50343	0.1610	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.47995	-0.9073	10	0.30078	T	0.28	-0.716	7.7716	0.29012	0.1813:0.0:0.8187:0.0	.	20;3;20;20	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	V	20;20;3;3;3;20;27;3;24;3;3;3;3;3	ENSP00000354791:A20V;ENSP00000377571:A20V;ENSP00000386406:A3V;ENSP00000387327:A3V;ENSP00000386843:A20V;ENSP00000414315:A27V;ENSP00000404038:A3V;ENSP00000402509:A24V;ENSP00000395312:A3V;ENSP00000413268:A3V;ENSP00000409363:A3V;ENSP00000400059:A3V	ENSP00000354791:A20V	A	-	2	0	DCTN1	74458855	0.965000	0.33210	0.319000	0.25293	0.906000	0.53458	3.700000	0.54786	2.299000	0.77371	0.455000	0.32223	GCG		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		14	26	0	0	0	1	0	14	26				
AFF2	2334	broad.mit.edu	37	X	147967510	147967510	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:147967510T>C	ENST00000370460.2	+	8	1833	c.1354T>C	c.(1354-1356)Tac>Cac	p.Y452H	AFF2_ENST00000370458.1_Missense_Mutation_p.Y413H|AFF2_ENST00000370457.5_Missense_Mutation_p.Y419H|AFF2_ENST00000286437.5_Missense_Mutation_p.Y93H|AFF2_ENST00000342251.3_Missense_Mutation_p.Y419H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	452					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACTGAGCTCTACCAGGTTAG	0.502																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1354-1356)Tac>Cac		AF4/FMR2 family, member 2							198.0	171.0	180.0					X																	147967510		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147967510T>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1354T>C	X.37:g.147967510T>C	ENSP00000359489:p.Tyr452His					AFF2_ENST00000342251.3_Missense_Mutation_p.Y419H|AFF2_ENST00000370458.1_Missense_Mutation_p.Y413H|AFF2_ENST00000370457.5_Missense_Mutation_p.Y419H|AFF2_ENST00000286437.5_Missense_Mutation_p.Y93H	p.Y452H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			8	1833	+	Acute lymphoblastic leukemia(192;6.56e-05)		452					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1354T>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884678	0.33255	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.71817	-0.0;-0.26;-0.26;0.94;-0.6	4.6	4.6	0.57074	.	0.464806	0.21043	N	0.081138	T	0.70193	0.3196	L	0.29908	0.895	0.24347	N	0.994935	B;B;D;D;D;D;D	0.76494	0.031;0.025;0.997;0.997;0.999;0.998;0.989	B;B;D;D;D;D;P	0.80764	0.036;0.012;0.991;0.991;0.994;0.988;0.689	T	0.58651	-0.7599	10	0.15499	T	0.54	.	7.4825	0.27413	0.0:0.1029:0.0:0.8971	.	93;417;419;413;442;452;413	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	H	452;419;419;413;93	ENSP00000359489:Y452H;ENSP00000359486:Y419H;ENSP00000345459:Y419H;ENSP00000359487:Y413H;ENSP00000286437:Y93H	ENSP00000286437:Y93H	Y	+	1	0	AFF2	147775203	0.954000	0.32549	1.000000	0.80357	0.878000	0.50629	0.869000	0.27996	1.808000	0.52836	0.481000	0.45027	TAC		0.502	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		3	68	0	0	0	1	0	3	68				
DLEC1	9940	broad.mit.edu	37	3	38104200	38104200	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38104200T>C	ENST00000308059.6	+	5	1023	c.1002T>C	c.(1000-1002)ccT>ccC	p.P334P	DLEC1_ENST00000346219.3_Silent_p.P334P|DLEC1_ENST00000452631.2_Silent_p.P334P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTTTTTCCTCCTAACACTC	0.473																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1000-1002)ccT>ccC		deleted in lung and esophageal cancer 1							107.0	104.0	105.0					3																	38104200		1849	4095	5944	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104200T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1002T>C	3.37:g.38104200T>C						DLEC1_ENST00000346219.3_Silent_p.P334P|DLEC1_ENST00000452631.2_Silent_p.P334P	p.P334P			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	1023	+			334						Silent	SNP	ENST00000308059.6	37	c.1002T>C	CCDS2672.2																																																																																				0.473	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		13	31	0	0	0	1	0	13	31				
SFRP5	6425	broad.mit.edu	37	10	99527606	99527606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99527606G>A	ENST00000266066.3	-	3	737	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	207	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R207C(2)		large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TCCTTGATGCGCATTTTGACC	0.542																																						ENST00000266066.3																			2	Substitution - Missense(2)	p.R207C(2)	large_intestine(2)	large_intestine(1)|lung(4)	5						c.(619-621)Cgc>Tgc		secreted frizzled-related protein 5							62.0	64.0	63.0					10																	99527606		2203	4300	6503	SO:0001583	missense	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527606G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.619C>T	10.37:g.99527606G>A	ENSP00000266066:p.Arg207Cys						p.R207C	NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	737	-		Colorectal(252;0.234)	207			NTR.		O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	37	c.619C>T	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077243	0.76415	.	.	ENSG00000120057	ENST00000266066	T	0.25085	1.82	5.74	5.74	0.90152	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.057147	0.64402	D	0.000002	T	0.28896	0.0717	L	0.49350	1.555	0.80722	D	1	P	0.43431	0.807	B	0.37989	0.262	T	0.07366	-1.0776	10	0.87932	D	0	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	207	Q5T4F7	SFRP5_HUMAN	C	207	ENSP00000266066:R207C	ENSP00000266066:R207C	R	-	1	0	SFRP5	99517596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.399000	0.52586	2.712000	0.92718	0.561000	0.74099	CGC		0.542	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		31	69	0	0	0	1	0	31	69				
TTN	7273	broad.mit.edu	37	2	179641420	179641420	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179641420C>T	ENST00000591111.1	-	28	5395	c.5171G>A	c.(5170-5172)tGc>tAc	p.C1724Y	TTN_ENST00000342992.6_Missense_Mutation_p.C1724Y|TTN_ENST00000360870.5_Missense_Mutation_p.C1724Y|TTN_ENST00000359218.5_Missense_Mutation_p.C1678Y|TTN_ENST00000460472.2_Missense_Mutation_p.C1678Y|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C1724Y|TTN_ENST00000342175.6_Missense_Mutation_p.C1678Y|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12559	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGCCTGCATTCAAAGTG	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5170-5172)tGc>tAc		titin							78.0	70.0	73.0					2																	179641420		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641420C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5171G>A	2.37:g.179641420C>T	ENSP00000465570:p.Cys1724Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.C1678Y|TTN_ENST00000360870.5_Missense_Mutation_p.C1724Y|TTN_ENST00000591111.1_Missense_Mutation_p.C1724Y|TTN_ENST00000460472.2_Missense_Mutation_p.C1678Y|TTN_ENST00000342992.6_Missense_Mutation_p.C1724Y|TTN_ENST00000359218.5_Missense_Mutation_p.C1678Y	p.C1724Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5395	-			1478			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5171G>A		.	.	.	.	.	.	.	.	.	.	C	11.14	1.550912	0.27739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92361	0.7576	M	0.92691	3.335	0.44500	D	0.997446	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.94074	0.7338	9	0.87932	D	0	.	18.7492	0.91807	0.0:1.0:0.0:0.0	.	1678;1678;1678;1724;1724	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1724;1678;1678;1678;1678;1724	ENSP00000343764:C1724Y;ENSP00000434586:C1678Y;ENSP00000340554:C1678Y;ENSP00000352154:C1678Y;ENSP00000354117:C1724Y	ENSP00000340554:C1678Y	C	-	2	0	TTN	179349665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.688000	0.84153	2.453000	0.82957	0.561000	0.74099	TGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	30	0	0	0	1	0	24	30				
DNASE1	1773	broad.mit.edu	37	16	3707287	3707287	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3707287C>T	ENST00000246949.5	+	7	3858	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	DNASE1_ENST00000407479.1_Silent_p.L217L|DNASE1_ENST00000414110.2_Silent_p.L100L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	217					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CTTCCAGTGGCTGATCCCCGA	0.617																																						ENST00000246949.5																			0				lung(1)	1						c.(649-651)Ctg>Ttg		deoxyribonuclease I	Dornase Alfa(DB00003)						79.0	64.0	69.0					16																	3707287		2197	4300	6497	SO:0001819	synonymous_variant	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3707287C>T		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.649C>T	16.37:g.3707287C>T						DNASE1_ENST00000414110.2_Silent_p.L100L|DNASE1_ENST00000407479.1_Silent_p.L217L	p.L217L	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	7	3858	+		Ovarian(90;0.0261)	217					B4DV35|Q14UU9|Q14UV0	Silent	SNP	ENST00000246949.5	37	c.649C>T	CCDS10507.1																																																																																				0.617	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			17	14	0	0	0	1	0	17	14				
ITGA10	8515	broad.mit.edu	37	1	145528630	145528630	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145528630G>A	ENST00000369304.3	+	5	602	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	143					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGATATGTGCCCGTGTGGA	0.582																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(427-429)Gcc>Acc		integrin, alpha 10							129.0	117.0	121.0					1																	145528630		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145528630G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.427G>A	1.37:g.145528630G>A	ENSP00000358310:p.Ala143Thr					ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron	p.A143T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			5	602	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		143					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.427G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006219	0.54361	.	.	ENSG00000143127	ENST00000369304;ENST00000543043	T	0.56941	0.43	5.13	2.25	0.28309	.	0.000000	0.64402	D	0.000001	T	0.26919	0.0659	L	0.44542	1.39	0.80722	D	1	P;B	0.40302	0.712;0.402	B;B	0.42692	0.395;0.17	T	0.10543	-1.0625	10	0.52906	T	0.07	.	3.5386	0.07803	0.2779:0.0:0.5458:0.1763	.	109;143	F5H3T9;O75578	.;ITA10_HUMAN	T	143;109	ENSP00000358310:A143T	ENSP00000358310:A143T	A	+	1	0	ITGA10	144239987	0.811000	0.29063	0.998000	0.56505	0.997000	0.91878	0.077000	0.14738	0.573000	0.29400	0.561000	0.74099	GCC		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		10	31	0	0	0	1	0	10	31				
HEPH	9843	broad.mit.edu	37	X	65483509	65483509	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:65483509A>G	ENST00000343002.2	+	19	3887	c.3223A>G	c.(3223-3225)Atc>Gtc	p.I1075V	HEPH_ENST00000519389.1_Missense_Mutation_p.I1129V|HEPH_ENST00000336279.5_Missense_Mutation_p.I808V|HEPH_ENST00000374727.3_Missense_Mutation_p.I1078V|HEPH_ENST00000419594.1_Missense_Mutation_p.I886V|HEPH_ENST00000441993.2_Missense_Mutation_p.I1078V			Q9BQS7	HEPH_HUMAN	hephaestin	1075	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTCACCGTCATCACCAAAGA	0.443																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3385-3387)Atc>Gtc		hephaestin							205.0	144.0	165.0					X																	65483509		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65483509A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3223A>G	X.37:g.65483509A>G	ENSP00000343939:p.Ile1075Val					HEPH_ENST00000374727.3_Missense_Mutation_p.I1078V|HEPH_ENST00000419594.1_Missense_Mutation_p.I886V|HEPH_ENST00000343002.2_Missense_Mutation_p.I1075V|HEPH_ENST00000336279.5_Missense_Mutation_p.I808V|HEPH_ENST00000441993.2_Missense_Mutation_p.I1078V	p.I1129V			Q9BQS7	HEPH_HUMAN			20	3564	+			1075					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3385A>G		.	.	.	.	.	.	.	.	.	.	A	0.008	-1.896562	0.00522	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99226	-5.59;-5.57;-5.57;-5.53;-5.57;-5.57	3.95	3.95	0.45737	.	0.622863	0.15665	N	0.250705	D	0.95345	0.8489	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.14578	0.0;0.011;0.0	D	0.89895	0.4040	10	0.13108	T	0.6	.	8.3072	0.32049	1.0:0.0:0.0:0.0	.	1129;886;1075	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	1129;1078;808;1078;886;1075	ENSP00000430620:I1129V;ENSP00000363859:I1078V;ENSP00000337418:I808V;ENSP00000411687:I1078V;ENSP00000413211:I886V;ENSP00000343939:I1075V	ENSP00000337418:I808V	I	+	1	0	HEPH	65400234	0.001000	0.12720	0.022000	0.16811	0.051000	0.14879	1.170000	0.31883	1.779000	0.52309	0.486000	0.48141	ATC		0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		32	5	0	0	0	1	0	32	5				
STAG3L4	64940	broad.mit.edu	37	7	66774022	66774022	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66774022A>G	ENST00000416602.2	+	0	463					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CGGTGCCAGTACATCCTCCTC	0.547																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															156.0	157.0	157.0					7																	66774022		2203	4300	6503			0							g.chr7:66774022A>G			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774022A>G								NR_040586.1		Q8TBR4	STG34_HUMAN			0	463	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	a	6.346	0.431944	0.12045	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.0465	0.0465	0.14256	STAG (1);	0.283898	0.26082	N	0.026444	T	0.62588	0.2440	.	.	.	.	.	.	D	0.76494	0.999	D	0.77557	0.99	T	0.64980	-0.6279	7	0.52906	T	0.07	.	4.565	0.12180	0.9994:0.0:6.0E-4:0.0	.	63	Q8TBR4	STG34_HUMAN	C	63	.	ENSP00000408597:Y63C	Y	+	2	0	STAG3L4	66411457	1.000000	0.71417	0.161000	0.22692	0.163000	0.22366	5.919000	0.70005	0.115000	0.18071	0.113000	0.15668	TAC		0.547	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		25	36	0	0	0	1	0	25	36				
REV3L	5980	broad.mit.edu	37	6	111694060	111694060	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111694060G>A	ENST00000358835.3	-	14	5952	c.5498C>T	c.(5497-5499)gCc>gTc	p.A1833V	REV3L_ENST00000368802.3_Missense_Mutation_p.A1833V|REV3L_ENST00000368805.1_Missense_Mutation_p.A1833V|REV3L_ENST00000435970.1_Missense_Mutation_p.A1755V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1833					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATCTTCACAGGCCACGTCTAC	0.418								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5263-5265)gCc>gTc	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							172.0	162.0	165.0					6																	111694060		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694060G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5498C>T	6.37:g.111694060G>A	ENSP00000351697:p.Ala1833Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A1833V|REV3L_ENST00000368805.1_Missense_Mutation_p.A1833V|REV3L_ENST00000368802.3_Missense_Mutation_p.A1833V	p.A1755V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6080	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1833					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5264C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157369	0.38119	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01665	4.79;4.79;4.79;4.7	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.275261	0.35151	N	0.003408	T	0.01387	0.0045	L	0.56769	1.78	0.43637	D	0.996039	P	0.35745	0.518	B	0.31390	0.129	T	0.64744	-0.6335	10	0.27082	T	0.32	-4.0917	18.5173	0.90939	0.0:0.0:1.0:0.0	.	1833	O60673	DPOLZ_HUMAN	V	1833;1833;1833;1755	ENSP00000357792:A1833V;ENSP00000357795:A1833V;ENSP00000351697:A1833V;ENSP00000402003:A1755V	ENSP00000351697:A1833V	A	-	2	0	REV3L	111800753	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	4.715000	0.61909	2.805000	0.96524	0.655000	0.94253	GCC		0.418	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		54	85	0	0	0	1	0	54	85				
PIPOX	51268	broad.mit.edu	37	17	27371958	27371958	+	Missense_Mutation	SNP	C	C	T	rs141823270		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27371958C>T	ENST00000323372.4	+	2	522	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	66					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTTTTACACCCGGATGATGCA	0.527																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(196-198)Cgg>Tgg		pipecolic acid oxidase	Glycine(DB00145)						116.0	105.0	109.0					17																	27371958		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27371958C>T	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.196C>T	17.37:g.27371958C>T	ENSP00000317721:p.Arg66Trp					PIPOX_ENST00000583215.1_3'UTR	p.R66W	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	522	+	Lung NSC(42;0.015)		66					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.196C>T	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.947296	0.53186	.	.	ENSG00000179761	ENST00000323372	D	0.83075	-1.68	5.8	1.01	0.19927	FAD dependent oxidoreductase (1);	1.700590	0.02448	N	0.085306	D	0.85771	0.5774	M	0.68317	2.08	0.09310	N	1	D	0.67145	0.996	P	0.53185	0.72	T	0.66814	-0.5828	10	0.62326	D	0.03	-13.9725	3.7367	0.08514	0.4958:0.3001:0.1194:0.0847	.	66	Q9P0Z9	SOX_HUMAN	W	66	ENSP00000317721:R66W	ENSP00000317721:R66W	R	+	1	2	PIPOX	24396084	0.000000	0.05858	0.116000	0.21606	0.473000	0.32948	0.444000	0.21661	0.307000	0.22880	-0.127000	0.14921	CGG		0.527	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		16	24	0	0	0	1	0	16	24				
MMEL1	79258	broad.mit.edu	37	1	2535386	2535386	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2535386G>A	ENST00000378412.3	-	11	1139	c.978C>T	c.(976-978)caC>caT	p.H326H	MMEL1_ENST00000502556.1_Silent_p.H169H|MMEL1_ENST00000288709.6_Silent_p.H317H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	326						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGATGACGTCGTGTCTCTCCT	0.677																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(949-951)caC>caT		membrane metallo-endopeptidase-like 1							131.0	113.0	119.0					1																	2535386		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2535386G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.978C>T	1.37:g.2535386G>A						MMEL1_ENST00000378412.3_Silent_p.H326H|MMEL1_ENST00000502556.1_Silent_p.H169H	p.H317H	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	11	1191	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	326					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.951C>T	CCDS30569.2																																																																																				0.677	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		24	43	0	0	0	1	0	24	43				
ZNF707	286075	broad.mit.edu	37	8	144776245	144776245	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144776245C>T	ENST00000532205.1	+	8	1560	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	ZNF707_ENST00000358656.4_Missense_Mutation_p.R221C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R221C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R221C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R221C|RP11-429J17.2_ENST00000531565.1_RNA			Q96C28	ZN707_HUMAN	zinc finger protein 707	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACCTGCAGCGCCACCAGAA	0.672																																						ENST00000532205.1																			0				breast(1)	1						c.(661-663)Cgc>Tgc		zinc finger protein 707							16.0	19.0	18.0					8																	144776245		2082	4224	6306	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776245C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.661C>T	8.37:g.144776245C>T	ENSP00000436212:p.Arg221Cys					ZNF707_ENST00000454097.1_Missense_Mutation_p.R221C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R221C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R221C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R221C	p.R221C			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1560	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		221					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.661C>T	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535437	0.27475	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	2.99	-0.252	0.12999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47838	0.1467	M	0.86805	2.84	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.912	T	0.26052	-1.0114	8	.	.	.	-12.7845	5.0969	0.14739	0.3575:0.3062:0.3363:0.0	.	146;221	B4DV46;Q96C28	.;ZN707_HUMAN	C	221	ENSP00000409029:R221C;ENSP00000351482:R221C;ENSP00000436250:R221C;ENSP00000436212:R221C;ENSP00000413215:R221C	.	R	+	1	0	ZNF707	144848233	0.000000	0.05858	0.211000	0.23655	0.228000	0.25075	-3.126000	0.00593	0.418000	0.25898	0.563000	0.77884	CGC		0.672	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		6	9	0	0	0	1	0	6	9				
RFX5	5993	broad.mit.edu	37	1	151316215	151316215	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151316215C>T	ENST00000290524.4	-	9	877	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Silent_p.Q193Q|RFX5_ENST00000368870.2_Silent_p.Q233Q|RFX5_ENST00000452671.2_Silent_p.Q233Q|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	233					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATGAGATGCTGCTGTAGCA	0.587																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(697-699)caG>caA		regulatory factor X, 5 (influences HLA class II expression)							92.0	81.0	84.0					1																	151316215		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316215C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.699G>A	1.37:g.151316215C>T						RFX5_ENST00000452513.2_Silent_p.Q193Q|RFX5_ENST00000452671.2_Silent_p.Q233Q|RFX5_ENST00000368870.2_Silent_p.Q233Q	p.Q233Q	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	877	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		233					B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.699G>A	CCDS994.1																																																																																				0.587	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		15	15	0	0	0	1	0	15	15				
DBNDD1	79007	broad.mit.edu	37	16	90072796	90072796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:90072796G>A	ENST00000002501.6	-	4	555	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	DBNDD1_ENST00000304733.3_Nonsense_Mutation_p.Q162*|DBNDD1_ENST00000568838.1_Nonsense_Mutation_p.Q262*|DBNDD1_ENST00000392973.3_Nonsense_Mutation_p.Q148*	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	142						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACTGTGGCCTGCCGCTCGGGG	0.682																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(442-444)Cag>Tag		dysbindin (dystrobrevin binding protein 1) domain containing 1							33.0	43.0	40.0					16																	90072796		2021	4184	6205	SO:0001587	stop_gained	79007					cytoplasm		g.chr16:90072796G>A	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.424C>T	16.37:g.90072796G>A	ENSP00000002501:p.Gln142*					DBNDD1_ENST00000304733.3_Nonsense_Mutation_p.Q162*|DBNDD1_ENST00000002501.6_Nonsense_Mutation_p.Q142*|DBNDD1_ENST00000568838.1_Nonsense_Mutation_p.Q262*	p.Q148*			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	1173	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	142					B4DQS3|Q69YT2|Q9BW25	Nonsense_Mutation	SNP	ENST00000002501.6	37	c.442C>T	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442217	0.63067	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	.	.	.	5.64	5.64	0.86602	.	0.087381	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-24.9448	19.2832	0.94060	0.0:0.0:1.0:0.0	.	.	.	.	X	162;142;262	.	ENSP00000002501:Q142X	Q	-	1	0	DBNDD1	88600297	0.865000	0.29922	0.564000	0.28396	0.304000	0.27724	3.437000	0.52863	2.664000	0.90586	0.491000	0.48974	CAG		0.682	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		5	8	0	0	0	1	0	5	8				
SFMBT1	51460	broad.mit.edu	37	3	52954553	52954553	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52954553C>T	ENST00000394752.3	-	12	1754	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I	SFMBT1_ENST00000394750.1_Splice_Site_p.V458I|SFMBT1_ENST00000358080.2_Splice_Site_p.V458I|SFMBT1_ENST00000296295.6_Splice_Site_p.V458I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	458					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGACAGATACCTCGTGCTCGG	0.428																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.e12+1		Scm-like with four mbt domains 1							49.0	49.0	49.0					3																	52954553		2203	4300	6503	SO:0001630	splice_region_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52954553C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1372+1G>A	3.37:g.52954553C>T						SFMBT1_ENST00000296295.6_Splice_Site_p.V458_splice|SFMBT1_ENST00000394750.1_Splice_Site_p.V458_splice|SFMBT1_ENST00000358080.2_Splice_Site_p.V458_splice	p.V458_splice	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	12	1754	-			458					Q402F7|Q96C73|Q9Y4Q9	Splice_Site	SNP	ENST00000394752.3	37	c.1372_splice	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711329	0.48517	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.1	5.1	0.69264	.	0.206543	0.40640	N	0.001057	T	0.35885	0.0947	M	0.64997	1.995	0.53005	D	0.999963	B;B	0.15473	0.006;0.013	B;B	0.23716	0.016;0.048	T	0.10847	-1.0612	9	.	.	.	.	19.0691	0.93125	0.0:1.0:0.0:0.0	.	458;458	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	I	458	ENSP00000378235:V458I;ENSP00000350789:V458I;ENSP00000296295:V458I;ENSP00000378233:V458I	.	V	-	1	0	SFMBT1	52929593	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.614000	0.61183	2.822000	0.97130	0.650000	0.86243	GTA		0.428	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	Missense_Mutation	5	10	0	0	0	1	0	5	10				
DEPTOR	64798	broad.mit.edu	37	8	121015349	121015349	+	Splice_Site	SNP	C	C	T	rs145863430		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121015349C>T	ENST00000286234.5	+	6	1054	c.924C>T	c.(922-924)tcC>tcT	p.S308S	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Splice_Site_p.S207S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	308					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ACCCCAAGTCCGGTGAGTGCC	0.617																																						ENST00000286234.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						c.e6+1		DEP domain containing MTOR-interacting protein							37.0	33.0	35.0					8																	121015349		2203	4300	6503	SO:0001630	splice_region_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121015349C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.925+1C>T	8.37:g.121015349C>T						DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Splice_Site_p.S207_splice	p.S308_splice	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN			6	1054	+			308					B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Splice_Site	SNP	ENST00000286234.5	37	c.925_splice	CCDS6331.1																																																																																				0.617	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	Silent	7	13	0	0	0	1	0	7	13				
ALS2	57679	broad.mit.edu	37	2	202625667	202625667	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202625667C>T	ENST00000264276.6	-	4	1422	c.1050G>A	c.(1048-1050)cgG>cgA	p.R350R	ALS2_ENST00000467448.1_Silent_p.R350R|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	350					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGACAGTTTCCGTAGGTATT	0.423																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1048-1050)cgG>cgA		amyotrophic lateral sclerosis 2 (juvenile)							141.0	133.0	135.0					2																	202625667		1986	4178	6164	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625667C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1050G>A	2.37:g.202625667C>T						ALS2_ENST00000467448.1_Silent_p.R350R	p.R350R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1422	-			350					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.1050G>A	CCDS42800.1																																																																																				0.423	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		24	43	0	0	0	1	0	24	43				
FTO	79068	broad.mit.edu	37	16	53913791	53913791	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53913791C>T	ENST00000471389.1	+	6	1233	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	FTO_ENST00000394647.3_Silent_p.R41R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	337					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTTACAACGCTGTCAGTTGG	0.408																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1009-1011)cgC>cgT		fat mass and obesity associated							182.0	169.0	173.0					16																	53913791		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53913791C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1011C>T	16.37:g.53913791C>T						FTO_ENST00000394647.3_Silent_p.R41R	p.R337R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			6	1233	+			337					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1011C>T	CCDS32448.1																																																																																				0.408	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		32	54	0	0	0	1	0	32	54				
DYX1C1	161582	broad.mit.edu	37	15	55727180	55727180	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55727180G>A	ENST00000321149.3	-	8	1337	c.970C>T	c.(970-972)Cca>Tca	p.P324S	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P324S|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000380679.1_Missense_Mutation_p.P324S	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	324					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TACAATAGTGGCATCTTATTA	0.333																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(970-972)Cca>Tca		dyslexia susceptibility 1 candidate 1							110.0	112.0	111.0					15																	55727180		2191	4289	6480	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55727180G>A		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.970C>T	15.37:g.55727180G>A	ENSP00000323275:p.Pro324Ser					DYX1C1_ENST00000380679.1_Missense_Mutation_p.P324S|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P324S|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P324S|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P324S	p.P324S	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	8	1337	-			324					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.970C>T	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660871	0.47572	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.29	5.29	0.74685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063428	0.64402	U	0.000005	T	0.66577	0.2803	N	0.16016	0.355	0.58432	D	0.999999	D;P;D	0.89917	0.996;0.898;1.0	D;P;D	0.87578	0.966;0.896;0.998	T	0.69518	-0.5124	10	0.44086	T	0.13	.	18.271	0.90068	0.0:0.0:1.0:0.0	.	324;324;324	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	S	324	ENSP00000403412:P324S;ENSP00000370054:P324S;ENSP00000402640:P324S;ENSP00000323275:P324S;ENSP00000299561:P324S	ENSP00000323275:P324S	P	-	1	0	DYX1C1	53514472	1.000000	0.71417	0.396000	0.26296	0.178000	0.23041	8.536000	0.90627	2.622000	0.88805	0.563000	0.77884	CCA		0.333	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		44	50	0	0	0	1	0	44	50				
PALLD	23022	broad.mit.edu	37	4	169433371	169433371	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169433371C>T	ENST00000505667.1	+	2	889	c.716C>T	c.(715-717)gCc>gTc	p.A239V	PALLD_ENST00000333488.4_Missense_Mutation_p.A116V|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.A239V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	239					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCCCTGGGGCCAGGCATTGC	0.602									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(715-717)gCc>gTc		palladin, cytoskeletal associated protein							88.0	87.0	87.0					4																	169433371		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433371C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.716C>T	4.37:g.169433371C>T	ENSP00000425556:p.Ala239Val					PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A239V|PALLD_ENST00000333488.4_Missense_Mutation_p.A116V	p.A239V	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	927	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	239					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.716C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339927	0.41398	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.64085	0.03;0.3;-0.08;0.01	5.41	4.55	0.56014	.	0.281280	0.18732	U	0.132703	T	0.45657	0.1353	N	0.24115	0.695	0.24245	N	0.995348	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.32188	-0.9916	10	0.38643	T	0.18	.	8.7242	0.34458	0.1658:0.6617:0.1725:0.0	.	239;239	B7ZMM5;B2RTX2	.;.	V	239;239;218;116	ENSP00000261509:A239V;ENSP00000425556:A239V;ENSP00000423063:A218V;ENSP00000328945:A116V	ENSP00000261509:A239V	A	+	2	0	PALLD	169669946	0.000000	0.05858	0.932000	0.37286	0.391000	0.30476	0.535000	0.23114	1.237000	0.43756	0.591000	0.81541	GCC		0.602	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		16	31	0	0	0	1	0	16	31				
KCNQ1	3784	broad.mit.edu	37	11	2594154	2594154	+	Missense_Mutation	SNP	G	G	A	rs397508129		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2594154G>A	ENST00000155840.5	+	6	967	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A160T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	287					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGAGAAGGACGCGGTGAACGA	0.592																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(859-861)Gcg>Acg		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						129.0	98.0	108.0					11																	2594154		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2594154G>A	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.859G>A	11.37:g.2594154G>A	ENSP00000155840:p.Ala287Thr					KCNQ1_ENST00000335475.5_Missense_Mutation_p.A160T	p.A287T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	6	967	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	287					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.859G>A	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001359	0.54254	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.98585	-5.01;-5.01	3.74	3.74	0.42951	Ion transport (1);	0.060298	0.64402	D	0.000003	D	0.97914	0.9314	L	0.43598	1.365	0.51012	D	0.999903	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.66716	0.91;0.946;0.781	D	0.97365	0.9972	9	.	.	.	-29.373	14.6568	0.68838	0.0:0.0:1.0:0.0	.	160;160;287	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	T	287;160	ENSP00000155840:A287T;ENSP00000334497:A160T	.	A	+	1	0	KCNQ1	2550730	1.000000	0.71417	0.991000	0.47740	0.310000	0.27922	5.814000	0.69208	2.114000	0.64651	0.313000	0.20887	GCG		0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		12	13	0	0	0	1	0	12	13				
CAD	790	broad.mit.edu	37	2	27461327	27461327	+	Missense_Mutation	SNP	G	G	A	rs375486999		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27461327G>A	ENST00000403525.1	+	30	4844	c.4700G>A	c.(4699-4701)cGg>cAg	p.R1567Q	CAD_ENST00000264705.4_Missense_Mutation_p.R1630Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAGGCACGGGGCTTGCCA	0.597																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4888-4890)cGg>cAg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	GLN/ARG	0,4406		0,0,2203	79.0	81.0	81.0		4889	0.8	0.0	2		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1630/2226	27461327	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27461327G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4700G>A	2.37:g.27461327G>A	ENSP00000384510:p.Arg1567Gln					CAD_ENST00000403525.1_Missense_Mutation_p.R1567Q	p.R1630Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			31	5051	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1630			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4889G>A		.	.	.	.	.	.	.	.	.	.	G	8.971	0.972861	0.18736	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.46063	0.88;0.88	4.94	0.787	0.18596	.	0.239901	0.39834	N	0.001245	T	0.29817	0.0745	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.17979	0.02;0.003	T	0.18681	-1.0329	10	0.42905	T	0.14	1.8145	8.9523	0.35796	0.6549:0.0:0.3451:0.0	.	1567;1630	F8VPD4;P27708	.;PYR1_HUMAN	Q	1630;1567	ENSP00000264705:R1630Q;ENSP00000384510:R1567Q	ENSP00000264705:R1630Q	R	+	2	0	CAD	27314831	0.995000	0.38212	0.047000	0.18901	0.314000	0.28054	0.631000	0.24568	-0.165000	0.10908	-0.258000	0.10820	CGG		0.597	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	38	0	0	0	1	0	25	38				
CRBN	51185	broad.mit.edu	37	3	3215789	3215789	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3215789G>A	ENST00000231948.4	-	3	353	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	CRBN_ENST00000432408.2_Missense_Mutation_p.R110W	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	111	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATTAAATTCCGCACCATACTG	0.408																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(331-333)Cgg>Tgg		cereblon							96.0	98.0	97.0					3																	3215789		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215789G>A	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.331C>T	3.37:g.3215789G>A	ENSP00000231948:p.Arg111Trp					CRBN_ENST00000432408.2_Missense_Mutation_p.R110W	p.R111W	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	353	-			111			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.331C>T	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860280	0.91433	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.48836	0.8;0.8	5.75	5.75	0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.978;0.996;0.998	T	0.71686	-0.4518	10	0.87932	D	0	-25.3919	15.5427	0.76066	0.0:0.0:0.8613:0.1387	.	48;110;111	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	W	111;110;48	ENSP00000231948:R111W;ENSP00000412499:R110W	ENSP00000231948:R111W	R	-	1	2	CRBN	3190789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.309000	0.65774	2.704000	0.92352	0.650000	0.86243	CGG		0.408	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		21	52	0	0	0	1	0	21	52				
LDLRAD4	753	broad.mit.edu	37	18	13645640	13645640	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13645640C>A	ENST00000359446.5	+	6	1373	c.905C>A	c.(904-906)cCt>cAt	p.P302H	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P265H|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P284H|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P225H|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P302H|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P204H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P247H	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	302					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GATAGGAAGCCTGGGAACCTG	0.547																																						ENST00000361205.4																			0											c.(904-906)cCt>cAt		low density lipoprotein receptor class A domain containing 4							38.0	42.0	41.0					18																	13645640		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645640C>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.905C>A	18.37:g.13645640C>A	ENSP00000352420:p.Pro302His					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P284H|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P247H|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P225H|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P265H|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P204H|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P302H	p.P302H	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1573	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.905C>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937792	0.73557	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.29397	1.64;1.57	5.06	5.06	0.68205	.	0.055158	0.64402	D	0.000001	T	0.57184	0.2036	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.955;0.935	T	0.61840	-0.6980	10	0.87932	D	0	-1.7091	18.4174	0.90575	0.0:1.0:0.0:0.0	.	226;244;247;265;284;302	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	H	302;284;265;247;244;226	ENSP00000354753:P302H;ENSP00000382741:P284H	ENSP00000352420:P265H	P	+	2	0	C18orf1	13635640	0.995000	0.38212	0.959000	0.39883	0.978000	0.69477	3.294000	0.51787	2.368000	0.80403	0.655000	0.94253	CCT		0.547	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		19	45	1	0	1.01871e-10	1	1.09092e-10	19	45				
PRKAA2	5563	broad.mit.edu	37	1	57169922	57169922	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57169922C>T	ENST00000371244.4	+	7	1133	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	356	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GATGATAGTGCCATGCATATT	0.463																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1066-1068)gCc>gTc		protein kinase, AMP-activated, alpha 2 catalytic subunit							95.0	87.0	90.0					1																	57169922		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57169922C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1067C>T	1.37:g.57169922C>T	ENSP00000360290:p.Ala356Val						p.A356V	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			7	1133	+			356					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1067C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996252	0.19043	.	.	ENSG00000162409	ENST00000371244	T	0.07688	3.17	5.82	2.88	0.33553	.	0.551776	0.18245	N	0.147107	T	0.05823	0.0152	N	0.24115	0.695	0.36278	D	0.855592	B	0.23058	0.079	B	0.25987	0.065	T	0.35076	-0.9803	10	0.16896	T	0.51	-2.378	9.4075	0.38471	0.2597:0.6737:0.0:0.0667	.	356	P54646	AAPK2_HUMAN	V	356	ENSP00000360290:A356V	ENSP00000360290:A356V	A	+	2	0	PRKAA2	56942510	0.999000	0.42202	0.864000	0.33941	0.748000	0.42578	2.738000	0.47401	0.759000	0.33084	0.591000	0.81541	GCC		0.463	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		29	32	0	0	0	1	0	29	32				
TENM2	57451	broad.mit.edu	37	5	167674683	167674683	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167674683C>T	ENST00000518659.1	+	27	6778	c.6739C>T	c.(6739-6741)Cgc>Tgc	p.R2247C	TENM2_ENST00000520394.1_Missense_Mutation_p.R2008C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2246C|TENM2_ENST00000519204.1_Missense_Mutation_p.R2126C|TENM2_ENST00000403607.2_Missense_Mutation_p.R2071C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2247					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CATGCCCTTGCGCTATGACCT	0.547																																						ENST00000519204.1																			0											c.(6376-6378)Cgc>Tgc		teneurin transmembrane protein 2							50.0	51.0	51.0					5																	167674683		2151	4258	6409	SO:0001583	missense	57451							g.chr5:167674683C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6739C>T	5.37:g.167674683C>T	ENSP00000429430:p.Arg2247Cys					TENM2_ENST00000403607.2_Missense_Mutation_p.R2071C|TENM2_ENST00000545108.1_Missense_Mutation_p.R2246C|TENM2_ENST00000520394.1_Missense_Mutation_p.R2008C|TENM2_ENST00000518659.1_Missense_Mutation_p.R2247C	p.R2126C							26	6494	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6376C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302160	0.81136	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.18;-2.17;-2.27;-2.62;-2.65	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	D	0.96725	0.9535	10	0.72032	D	0.01	.	19.5848	0.95486	0.0:1.0:0.0:0.0	.	2246;2247;2008	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2247;2246;2126;2008;2071	ENSP00000429430:R2247C;ENSP00000438635:R2246C;ENSP00000428964:R2126C;ENSP00000427874:R2008C;ENSP00000384905:R2071C	ENSP00000384905:R2071C	R	+	1	0	ODZ2	167607261	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.080000	0.71299	2.636000	0.89361	0.561000	0.74099	CGC		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	24	0	0	0	1	0	17	24				
UPF1	5976	broad.mit.edu	37	19	18964097	18964097	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18964097G>A	ENST00000599848.1	+	8	1336	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	UPF1_ENST00000262803.5_Missense_Mutation_p.R365Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	376	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATATGCCTGCGGTACAAAGGG	0.572																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1093-1095)cGg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							65.0	59.0	61.0					19																	18964097		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18964097G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1127G>A	19.37:g.18964097G>A	ENSP00000470142:p.Arg376Gln					UPF1_ENST00000599848.1_Missense_Mutation_p.R376Q	p.R365Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			8	1366	+			376			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1094G>A		.	.	.	.	.	.	.	.	.	.	G	19.43	3.826316	0.71143	.	.	ENSG00000005007	ENST00000262803	D	0.90504	-2.68	4.59	3.55	0.40652	.	0.061492	0.64402	D	0.000007	D	0.88633	0.6489	M	0.78049	2.395	0.58432	D	0.999999	P;P	0.40180	0.581;0.705	B;B	0.33568	0.054;0.166	D	0.88375	0.2997	10	0.72032	D	0.01	-47.8306	11.8789	0.52562	0.0866:0.0:0.9134:0.0	.	376;365	Q92900;Q92900-2	RENT1_HUMAN;.	Q	365	ENSP00000262803:R365Q	ENSP00000262803:R365Q	R	+	2	0	UPF1	18825097	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.374000	0.97172	1.056000	0.40484	0.609000	0.83330	CGG		0.572	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		12	30	0	0	0	1	0	12	30				
SC5D	6309	broad.mit.edu	37	11	121177112	121177112	+	Missense_Mutation	SNP	G	G	A	rs35536707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121177112G>A	ENST00000392789.2	+	4	598	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SC5D_ENST00000528991.1_Intron|SC5D_ENST00000264027.4_Missense_Mutation_p.V121I|SC5D_ENST00000534230.1_Missense_Mutation_p.V121I	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	121					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										TGAACTTGTCGTTAGTATAAT	0.378																																						ENST00000264027.4																			0											c.(361-363)Gtt>Att		sterol-C5-desaturase							184.0	168.0	174.0					11																	121177112		2203	4298	6501	SO:0001583	missense	6309							g.chr11:121177112G>A		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.361G>A	11.37:g.121177112G>A	ENSP00000376539:p.Val121Ile					SC5D_ENST00000534230.1_Missense_Mutation_p.V121I|SC5D_ENST00000528991.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.V121I	p.V121I	NM_006918.4	NP_008849.2					4	735	+								O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.361G>A	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469947	0.12461	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.85556	-1.62;-1.63;-2.0;-1.62	5.61	-6.58	0.01836	.	1.004860	0.07999	N	0.988451	T	0.58736	0.2143	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.46978	-0.9152	10	0.30078	T	0.28	-21.7177	0.5659	0.00687	0.2503:0.1474:0.2417:0.3606	rs35536707	121;121	O75845;E9PQ91	SC5D_HUMAN;.	I	121;128;121;121	ENSP00000264027:V121I;ENSP00000436290:V128I;ENSP00000432550:V121I;ENSP00000376539:V121I	ENSP00000264027:V121I	V	+	1	0	SC5DL	120682322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.911000	0.03843	-1.094000	0.02160	GTT		0.378	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		8	20	0	0	0	1	0	8	20				
GRAMD2	196996	broad.mit.edu	37	15	72455632	72455632	+	Missense_Mutation	SNP	G	G	A	rs141361666		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72455632G>A	ENST00000309731.7	-	10	944	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	311						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTGAGGAGCCGGTAATCCCAG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17304	0.0		0.001	False		,,,				2504	0.0					ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(931-933)Cgg>Tgg		GRAM domain containing 2							61.0	64.0	63.0					15																	72455632		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72455632G>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.931C>T	15.37:g.72455632G>A	ENSP00000311657:p.Arg311Trp					GRAMD2_ENST00000564184.1_5'UTR	p.R311W	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			10	944	-			311					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.931C>T	CCDS32283.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.43	1.935742	0.34189	.	.	ENSG00000175318	ENST00000309731	T	0.34275	1.37	5.46	2.51	0.30379	.	0.688795	0.13721	N	0.367369	T	0.23965	0.0580	L	0.34521	1.04	0.24378	N	0.99481	P	0.52061	0.95	B	0.39971	0.315	T	0.13098	-1.0522	10	0.72032	D	0.01	.	5.3861	0.16218	0.17:0.0:0.6676:0.1624	.	311	Q8IUY3	GRAM2_HUMAN	W	311	ENSP00000311657:R311W	ENSP00000311657:R311W	R	-	1	2	GRAMD2	70242686	0.034000	0.19679	0.222000	0.23844	0.223000	0.24884	1.201000	0.32259	0.647000	0.30713	0.655000	0.94253	CGG		0.567	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		7	24	0	0	0	1	0	7	24				
PPIG	9360	broad.mit.edu	37	2	170493989	170493989	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170493989G>A	ENST00000260970.3	+	14	2441	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	PPIG_ENST00000448752.2_Missense_Mutation_p.D741N|PPIG_ENST00000409714.3_Missense_Mutation_p.D726N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	741					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TAAAAAATTTGATCATGAATC	0.333																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2221-2223)Gat>Aat		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						28.0	30.0	29.0					2																	170493989		2154	4135	6289	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493989G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2221G>A	2.37:g.170493989G>A	ENSP00000260970:p.Asp741Asn					PPIG_ENST00000448752.2_Missense_Mutation_p.D741N|PPIG_ENST00000409714.3_Missense_Mutation_p.D726N	p.D741N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2441	+			741					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2221G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352731	0.41700	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.17528	2.28;2.27;2.28	6.08	6.08	0.98989	.	0.191307	0.46758	D	0.000261	T	0.11281	0.0275	N	0.14661	0.345	0.31347	N	0.683015	B;B;B	0.24618	0.107;0.107;0.107	B;B;B	0.18263	0.021;0.021;0.021	T	0.06285	-1.0835	10	0.39692	T	0.17	-21.5244	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	726;726;741	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	N	741;726;741	ENSP00000260970:D741N;ENSP00000386245:D726N;ENSP00000407083:D741N	ENSP00000260970:D741N	D	+	1	0	PPIG	170202235	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.133000	0.64764	2.894000	0.99253	0.591000	0.81541	GAT		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	34	0	0	0	1	0	7	34				
RMND5B	64777	broad.mit.edu	37	5	177565184	177565184	+	Missense_Mutation	SNP	G	G	A	rs562081613		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:177565184G>A	ENST00000515098.1	+	4	415	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RMND5B_ENST00000313386.4_Missense_Mutation_p.G22R|RMND5B_ENST00000542098.1_Intron			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	22										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGACCTACGGGCAGCACTG	0.667																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(64-66)Ggg>Agg		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							64.0	51.0	56.0					5																	177565184		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177565184G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.64G>A	5.37:g.177565184G>A	ENSP00000420875:p.Gly22Arg					RMND5B_ENST00000313386.4_Missense_Mutation_p.G22R|RMND5B_ENST00000542098.1_Intron	p.G22R			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	415	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	22					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.64G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944429	0.73672	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000502814;ENST00000507457;ENST00000508647	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	N	0.08118	0	0.80722	D	1	B	0.32283	0.362	B	0.18871	0.023	T	0.15694	-1.0428	9	0.22109	T	0.4	-27.8584	16.7589	0.85507	0.0:0.0:1.0:0.0	.	22	Q96G75	RMD5B_HUMAN	R	22	.	ENSP00000320623:G22R	G	+	1	0	RMND5B	177497790	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	8.896000	0.92521	2.533000	0.85409	0.563000	0.77884	GGG		0.667	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		4	11	0	0	0	1	0	4	11				
ATP6V0D1	9114	broad.mit.edu	37	16	67472892	67472892	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67472892G>A	ENST00000290949.3	-	6	948	c.798C>T	c.(796-798)aaC>aaT	p.N266N	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.N189N|ATP6V0D1_ENST00000540149.1_Silent_p.N307N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	266				NV -> KL (in Ref. 1; CAA50591). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AATCGGCCACGTTCTTGACCT	0.617																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(796-798)aaC>aaT		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							112.0	124.0	120.0					16																	67472892		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472892G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.798C>T	16.37:g.67472892G>A						ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.N307N|ATP6V0D1_ENST00000602876.1_Silent_p.N189N	p.N266N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	6	948	-		Ovarian(137;0.0563)	266	NV -> KL (in Ref. 1; CAA50591).				P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.798C>T	CCDS10838.1																																																																																				0.617	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		58	81	0	0	0	1	0	58	81				
HK2	3099	broad.mit.edu	37	2	75107502	75107502	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75107502T>C	ENST00000290573.2	+	10	1976	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	HK2_ENST00000409174.1_Missense_Mutation_p.V431A	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	459	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGACAGCAGTGGCTTACCGG	0.617																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1375-1377)gTg>gCg		hexokinase 2							68.0	74.0	72.0					2																	75107502		2203	4297	6500	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107502T>C		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1376T>C	2.37:g.75107502T>C	ENSP00000290573:p.Val459Ala					HK2_ENST00000409174.1_Missense_Mutation_p.V431A	p.V459A	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	1976	+			459			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1376T>C	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725759	0.89298	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97256	-4.31;-4.31	4.87	4.87	0.63330	Hexokinase, C-terminal (1);	0.050892	0.85682	D	0.000000	D	0.98018	0.9347	M	0.74389	2.26	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98501	1.0614	10	0.66056	D	0.02	-30.2399	12.7383	0.57238	0.0:0.0:0.0:1.0	.	459	P52789	HXK2_HUMAN	A	459;459;431	ENSP00000290573:V459A;ENSP00000387140:V431A	ENSP00000290573:V459A	V	+	2	0	HK2	74961010	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.997000	0.70646	2.178000	0.69098	0.533000	0.62120	GTG		0.617	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		11	51	0	0	0	1	0	11	51				
TMEM169	92691	broad.mit.edu	37	2	216965056	216965056	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216965056G>A	ENST00000295658.4	+	3	892	c.685G>A	c.(685-687)Gct>Act	p.A229T	TMEM169_ENST00000437356.2_Missense_Mutation_p.A229T|TMEM169_ENST00000454545.1_Missense_Mutation_p.A229T|TMEM169_ENST00000406027.2_Missense_Mutation_p.A229T	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	229						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCCTCTACGCTGCTGTGGT	0.577																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(685-687)Gct>Act		transmembrane protein 169							231.0	183.0	199.0					2																	216965056		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216965056G>A	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.685G>A	2.37:g.216965056G>A	ENSP00000295658:p.Ala229Thr					TMEM169_ENST00000295658.4_Missense_Mutation_p.A229T|TMEM169_ENST00000437356.2_Missense_Mutation_p.A229T|TMEM169_ENST00000406027.2_Missense_Mutation_p.A229T	p.A229T	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1011	+		Renal(323;0.0651)	229					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.685G>A	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105192	0.37145	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	4.93	0.64822	.	0.167251	0.53938	D	0.000044	T	0.34135	0.0887	L	0.35854	1.095	0.38017	D	0.934716	B	0.31817	0.341	B	0.19148	0.024	T	0.29640	-1.0005	8	.	.	.	-15.1008	6.3799	0.21529	0.091:0.0:0.713:0.196	.	229	Q96HH4	TM169_HUMAN	T	229	.	.	A	+	1	0	TMEM169	216673301	1.000000	0.71417	0.999000	0.59377	0.537000	0.34900	3.908000	0.56355	2.550000	0.86006	0.655000	0.94253	GCT		0.577	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		45	65	0	0	0	1	0	45	65				
AKAP13	11214	broad.mit.edu	37	15	86284577	86284577	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86284577C>T	ENST00000394518.2	+	35	8004	c.7909C>T	c.(7909-7911)Cgg>Tgg	p.R2637W	AKAP13_ENST00000394510.2_Missense_Mutation_p.R882W|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2641W|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2637	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAAAGGAGCGGGAGGAGCT	0.652																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7909-7911)Cgg>Tgg		A kinase (PRKA) anchor protein 13							44.0	41.0	42.0					15																	86284577		2199	4298	6497	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284577C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7909C>T	15.37:g.86284577C>T	ENSP00000378026:p.Arg2637Trp					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2641W|AKAP13_ENST00000394510.2_Missense_Mutation_p.R882W|AKAP13_ENST00000560579.1_3'UTR	p.R2637W	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8004	+			2637			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7909C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601763	0.28534	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.27402	1.67;1.67;1.67	5.47	1.15	0.20763	.	.	.	.	.	T	0.32526	0.0832	M	0.83118	2.625	0.09310	N	1	B;B	0.22211	0.039;0.066	B;B	0.12156	0.003;0.007	T	0.40136	-0.9579	9	0.87932	D	0	.	4.0013	0.09580	0.2726:0.4892:0.0:0.2382	.	2637;2641	Q12802;Q12802-2	AKP13_HUMAN;.	W	2641;2637;2640;2616;882	ENSP00000354718:R2641W;ENSP00000378026:R2637W;ENSP00000378018:R882W	ENSP00000354718:R2641W	R	+	1	2	AKAP13	84085581	0.003000	0.15002	0.000000	0.03702	0.739000	0.42172	0.883000	0.28200	0.229000	0.21039	-0.345000	0.07892	CGG		0.652	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	13	0	0	0	1	0	7	13				
SDAD1	55153	broad.mit.edu	37	4	76871895	76871895	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76871895C>T	ENST00000356260.5	-	0	2190				AC110615.1_ENST00000599764.1_Missense_Mutation_p.P5S|SDAD1_ENST00000395711.4_3'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1						actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAAAACTTGCCAGGAAGTTA	0.353																																						ENST00000599764.1																			0											c.(13-15)Cca>Tca									101.0	93.0	95.0					4																	76871895		2202	4300	6502	SO:0001624	3_prime_UTR_variant	0							g.chr4:76871895C>T	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.*8G>A	4.37:g.76871895C>T						SDAD1_ENST00000395711.4_3'UTR|SDAD1_ENST00000356260.5_3'UTR	p.P5S							1	13	+								Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.13C>T	CCDS3573.2																																																																																				0.353	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		8	22	0	0	0	1	0	8	22				
P2RX3	5024	broad.mit.edu	37	11	57137383	57137383	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57137383G>A	ENST00000263314.2	+	12	1141	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	369					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAAATCGCGGCTTTGACCA	0.547																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(1105-1107)gcG>gcA		purinergic receptor P2X, ligand-gated ion channel, 3							109.0	90.0	97.0					11																	57137383		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57137383G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1107G>A	11.37:g.57137383G>A							p.A369A	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			12	1141	+			369					Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.1107G>A	CCDS7953.1																																																																																				0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		4	10	0	0	0	1	0	4	10				
C9orf91	203197	broad.mit.edu	37	9	117400890	117400890	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117400890G>T	ENST00000288502.4	+	8	1170	c.733G>T	c.(733-735)Gcg>Tcg	p.A245S	C9orf91_ENST00000374049.4_Missense_Mutation_p.A246S			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	245						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CCCTGCAACAGCGGAGGGGCC	0.557																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(736-738)Gcg>Tcg		chromosome 9 open reading frame 91							145.0	130.0	135.0					9																	117400890		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117400890G>T	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.733G>T	9.37:g.117400890G>T	ENSP00000288502:p.Ala245Ser					C9orf91_ENST00000288502.4_Missense_Mutation_p.A245S	p.A246S	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			8	1173	+			245					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.736G>T	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597710	0.13875	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.42	2.57	0.30868	.	1.261930	0.05158	N	0.497323	T	0.26702	0.0653	N	0.14661	0.345	0.09310	N	1	B;B	0.22683	0.073;0.03	B;B	0.25291	0.059;0.037	T	0.24657	-1.0154	9	0.11794	T	0.64	-1.7769	8.0001	0.30291	0.263:0.0:0.737:0.0	.	224;245	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	S	246;245	.	ENSP00000288502:A245S	A	+	1	0	C9orf91	116440711	0.009000	0.17119	0.002000	0.10522	0.218000	0.24690	1.238000	0.32707	0.667000	0.31107	0.650000	0.86243	GCG		0.557	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		27	45	1	0	1.1804e-14	1	1.28927e-14	27	45				
DNAJC13	23317	broad.mit.edu	37	3	132175576	132175576	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132175576G>A	ENST00000260818.6	+	12	1497	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	417					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCAAGAAGGGGATGTCGTTGC	0.433																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1249-1251)Gat>Aat		DnaJ (Hsp40) homolog, subfamily C, member 13							104.0	100.0	101.0					3																	132175576		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132175576G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1249G>A	3.37:g.132175576G>A	ENSP00000260818:p.Asp417Asn					DNAJC13_ENST00000486798.1_3'UTR	p.D417N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			12	1497	+			417					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1249G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843180	0.71488	.	.	ENSG00000138246	ENST00000260818	T	0.34472	1.36	5.86	4.99	0.66335	.	0.299368	0.36628	N	0.002482	T	0.38746	0.1052	N	0.24115	0.695	0.48452	D	0.999654	B;D;B	0.55800	0.074;0.973;0.18	B;P;B	0.54270	0.031;0.747;0.037	T	0.20874	-1.0262	10	0.44086	T	0.13	.	14.9363	0.70957	0.0683:0.0:0.9317:0.0	.	417;84;417	A7E2Y5;Q8N7A5;O75165	.;.;DJC13_HUMAN	N	417	ENSP00000260818:D417N	ENSP00000260818:D417N	D	+	1	0	DNAJC13	133658266	1.000000	0.71417	0.974000	0.42286	0.646000	0.38490	9.593000	0.98250	1.494000	0.48533	0.655000	0.94253	GAT		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		32	45	0	0	0	1	0	32	45				
CLCA4	22802	broad.mit.edu	37	1	87043586	87043586	+	Splice_Site	SNP	C	C	T	rs138241227	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87043586C>T	ENST00000370563.3	+	12	1995	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	651					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TATAACAAGGCGCTGATTCTT	0.373													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18084	0.0		0.0	False		,,,				2504	0.0					ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.e12-1		chloride channel accessory 4		C		1,3609		0,1,1804	44.0	41.0	42.0		1953	0.1	1.0	1	dbSNP_134	42	0,8144		0,0,4072	yes	coding-synonymous-near-splice	CLCA4	NM_012128.3		0,1,5876	TT,TC,CC		0.0,0.0277,0.0085		651/920	87043586	1,11753	1805	4072	5877	SO:0001630	splice_region_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87043586C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1952-1C>T	1.37:g.87043586C>T						RP4-651E10.4_ENST00000456587.1_RNA	p.G651_splice	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	12	1995	+		Lung NSC(277;0.238)	651					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Splice_Site	SNP	ENST00000370563.3	37	c.1951_splice	CCDS41355.1																																																																																				0.373	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	Silent	14	22	0	0	0	1	0	14	22				
PARP10	84875	broad.mit.edu	37	8	145058757	145058757	+	Silent	SNP	G	G	A	rs370204504		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145058757G>A	ENST00000313028.7	-	5	1507	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	PARP10_ENST00000524918.1_Silent_p.D471D|PARP10_ENST00000525773.1_Silent_p.D483D|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	471					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGAGCGACGTCTCCCAGGC	0.617																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1411-1413)gaC>gaT		poly (ADP-ribose) polymerase family, member 10				2,4404	4.2+/-10.8	0,2,2201	109.0	105.0	106.0		1413	-7.8	0.0	8		106	0,8600		0,0,4300	no	coding-synonymous	PARP10	NM_032789.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		471/1026	145058757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058757G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1413C>T	8.37:g.145058757G>A						PARP10_ENST00000525773.1_Silent_p.D483D|PARP10_ENST00000524918.1_Silent_p.D471D	p.D471D	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1507	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		471					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1413C>T	CCDS34960.1																																																																																				0.617	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		13	24	0	0	0	1	0	13	24				
DNM3	26052	broad.mit.edu	37	1	171956817	171956817	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171956817G>A	ENST00000355305.5	+	3	414	c.257G>A	c.(256-258)tGc>tAc	p.C86Y	DNM3_ENST00000358155.4_Missense_Mutation_p.C86Y|DNM3_ENST00000367733.2_Missense_Mutation_p.C86Y|DNM3_ENST00000520906.1_Missense_Mutation_p.C86Y|DNM3_ENST00000367731.1_Missense_Mutation_p.C86Y			Q9UQ16	DYN3_HUMAN	dynamin 3	86	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTCTACATTGCAAAGGAAAG	0.323																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(256-258)tGc>tAc		dynamin 3							119.0	136.0	131.0					1																	171956817		1820	4083	5903	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956817G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.257G>A	1.37:g.171956817G>A	ENSP00000347457:p.Cys86Tyr					DNM3_ENST00000367731.1_Missense_Mutation_p.C86Y|DNM3_ENST00000520906.1_Missense_Mutation_p.C86Y|DNM3_ENST00000367733.2_Missense_Mutation_p.C86Y|DNM3_ENST00000355305.5_Missense_Mutation_p.C86Y	p.C86Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			3	433	+			86					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.257G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.466275	0.84425	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.63046	0.986;0.992;0.983;0.964	P;P;P;P	0.62298	0.9;0.884;0.836;0.786	D	0.94859	0.8020	10	0.45353	T	0.12	.	17.2367	0.87000	0.0:0.0:1.0:0.0	.	86;86;86;86	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	Y	86	ENSP00000350876:C86Y;ENSP00000356707:C86Y;ENSP00000347457:C86Y;ENSP00000356705:C86Y;ENSP00000429701:C86Y	ENSP00000347457:C86Y	C	+	2	0	DNM3	170223440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.397000	0.81536	0.655000	0.94253	TGC		0.323	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		24	72	0	0	0	1	0	24	72				
APAF1	317	broad.mit.edu	37	12	99056478	99056478	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99056478G>T	ENST00000551964.1	+	7	1585	c.849G>T	c.(847-849)gaG>gaT	p.E283D	APAF1_ENST00000550527.1_Missense_Mutation_p.E272D|APAF1_ENST00000339433.3_Missense_Mutation_p.E283D|APAF1_ENST00000549007.1_Missense_Mutation_p.E283D|APAF1_ENST00000552268.1_Missense_Mutation_p.E283D|APAF1_ENST00000357310.1_Missense_Mutation_p.E283D|APAF1_ENST00000333991.1_Missense_Mutation_p.E283D|APAF1_ENST00000547045.1_Missense_Mutation_p.E283D|APAF1_ENST00000359972.2_Missense_Mutation_p.E272D	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	283	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCTGTGGAGAGTTCCTTAG	0.294																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(847-849)gaG>gaT		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						58.0	59.0	59.0					12																	99056478		2201	4299	6500	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056478G>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.849G>T	12.37:g.99056478G>T	ENSP00000448165:p.Glu283Asp					APAF1_ENST00000551964.1_Missense_Mutation_p.E283D|APAF1_ENST00000359972.2_Missense_Mutation_p.E272D|APAF1_ENST00000552268.1_Missense_Mutation_p.E283D|APAF1_ENST00000339433.3_Missense_Mutation_p.E283D|APAF1_ENST00000550527.1_Missense_Mutation_p.E272D|APAF1_ENST00000547045.1_Missense_Mutation_p.E283D|APAF1_ENST00000549007.1_Missense_Mutation_p.E283D|APAF1_ENST00000333991.1_Missense_Mutation_p.E283D	p.E283D	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			7	1426	+			283			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.849G>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999894	0.54147	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.56	4.68	0.58851	NB-ARC (1);	0.135296	0.64402	D	0.000003	T	0.76884	0.4050	L	0.38175	1.15	0.42683	D	0.993556	B;B;B;B;P	0.39003	0.008;0.016;0.008;0.027;0.654	B;B;B;B;P	0.56960	0.019;0.04;0.019;0.074;0.81	T	0.72347	-0.4321	10	0.21540	T	0.41	-3.0323	5.0611	0.14557	0.2096:0.1694:0.621:0.0	.	283;283;272;283;272	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	D	283;272;283;283;283;283;272;283;283	ENSP00000448165:E283D;ENSP00000353059:E272D;ENSP00000349862:E283D;ENSP00000341830:E283D;ENSP00000334558:E283D;ENSP00000448826:E283D;ENSP00000448449:E272D;ENSP00000449791:E283D;ENSP00000448161:E283D	ENSP00000334558:E283D	E	+	3	2	APAF1	97580609	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.928000	0.28831	1.346000	0.45694	-0.136000	0.14681	GAG		0.294	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		15	27	1	0	6.72482e-11	1	7.20828e-11	15	27				
TNRC18	84629	broad.mit.edu	37	7	5413695	5413695	+	Missense_Mutation	SNP	G	G	T	rs554534252		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5413695G>T	ENST00000430969.1	-	10	3568	c.3220C>A	c.(3220-3222)Ctg>Atg	p.L1074M	TNRC18_ENST00000399537.4_Missense_Mutation_p.L1074M	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1074	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTGAGAACAGGGCCTGGAAG	0.582																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3220-3222)Ctg>Atg		trinucleotide repeat containing 18							29.0	34.0	32.0					7																	5413695		1955	4141	6096	SO:0001583	missense	84629						DNA binding	g.chr7:5413695G>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3220C>A	7.37:g.5413695G>T	ENSP00000395538:p.Leu1074Met					TNRC18_ENST00000430969.1_Missense_Mutation_p.L1074M	p.L1074M			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	10	3568	-		Ovarian(82;0.142)	1074			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3220C>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	3.337	-0.135359	0.06711	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.19394	2.16;2.15	4.94	-0.344	0.12628	.	.	.	.	.	T	0.27313	0.0670	M	0.65498	2.005	0.23468	N	0.997617	P	0.47350	0.894	P	0.47044	0.535	T	0.14727	-1.0462	9	0.52906	T	0.07	.	9.0218	0.36204	0.5846:0.0:0.4154:0.0	.	1074	O15417	TNC18_HUMAN	M	1074;1074;129;129	ENSP00000382452:L1074M;ENSP00000395538:L1074M	ENSP00000330383:L129M	L	-	1	2	TNRC18	5380221	0.869000	0.29996	0.988000	0.46212	0.224000	0.24922	-0.005000	0.12855	-0.276000	0.09206	-0.439000	0.05793	CTG		0.582	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	17	1	0	1.12685e-05	1	1.16601e-05	9	17				
AMHR2	269	broad.mit.edu	37	12	53818596	53818596	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53818596C>T	ENST00000257863.4	+	3	416	c.336C>T	c.(334-336)ggC>ggT	p.G112G	AMHR2_ENST00000550311.1_Silent_p.G112G|AMHR2_ENST00000379791.3_Silent_p.G112G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	112					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCCTGTGGCACTGACTTCT	0.642																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(334-336)ggC>ggT		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						98.0	95.0	96.0					12																	53818596		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818596C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.336C>T	12.37:g.53818596C>T						AMHR2_ENST00000379791.3_Silent_p.G112G|AMHR2_ENST00000550311.1_Silent_p.G112G	p.G112G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			3	416	+			112					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.336C>T	CCDS8858.1																																																																																				0.642	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		17	72	0	0	0	1	0	17	72				
KIF1C	10749	broad.mit.edu	37	17	4903590	4903590	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4903590G>A	ENST00000320785.5	+	3	406	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	INCA1_ENST00000396829.2_5'Flank|INCA1_ENST00000355025.3_5'Flank|INCA1_ENST00000575780.1_5'Flank	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCCCTTTAACGCCCGTGAGAC	0.627																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(49-51)Gcc>Acc		kinesin family member 1C							74.0	56.0	62.0					17																	4903590		2198	4297	6495	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4903590G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.49G>A	17.37:g.4903590G>A	ENSP00000320821:p.Ala17Thr						p.A17T	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			3	406	+			17			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.49G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457583	0.43634	.	.	ENSG00000129250	ENST00000320785	D	0.88277	-2.36	4.01	3.04	0.35103	Kinesin, motor domain (4);	.	.	.	.	T	0.82093	0.4962	L	0.41824	1.3	0.32522	N	0.536174	B	0.27416	0.178	B	0.26094	0.066	T	0.80681	-0.1274	9	0.54805	T	0.06	.	5.5368	0.17016	0.1084:0.0:0.6958:0.1957	.	17	O43896	KIF1C_HUMAN	T	17	ENSP00000320821:A17T	ENSP00000320821:A17T	A	+	1	0	KIF1C	4844314	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.478000	0.35442	0.971000	0.38288	0.467000	0.42956	GCC		0.627	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			3	3	0	0	0	1	0	3	3				
WNT5A	7474	broad.mit.edu	37	3	55504240	55504240	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55504240G>A	ENST00000474267.1	-	6	1544	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000497027.1_Silent_p.G326G|WNT5A_ENST00000264634.4_Silent_p.G341G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	341					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTAGCCACGGCCGCAGCACA	0.632																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1021-1023)ggC>ggT		wingless-type MMTV integration site family, member 5A							76.0	81.0	80.0					3																	55504240		2203	4300	6503	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504240G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1023C>T	3.37:g.55504240G>A						WNT5A_ENST00000497027.1_Silent_p.G326G|WNT5A_ENST00000264634.4_Silent_p.G341G	p.G341G			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1544	-			341					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.1023C>T	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306819	0.23821	.	.	ENSG00000114251	ENST00000442038	.	.	.	5.67	2.8	0.32819	.	.	.	.	.	T	0.70098	0.3185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69859	-0.5031	5	0.87932	D	0	.	10.3656	0.44021	0.0699:0.3993:0.5308:0.0	.	.	.	.	S	74	.	ENSP00000395272:P74S	P	-	1	0	WNT5A	55479280	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.178000	0.42519	0.292000	0.22492	0.655000	0.94253	CCG		0.632	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		32	50	0	0	0	1	0	32	50				
DRG2	1819	broad.mit.edu	37	17	18001642	18001642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18001642C>T	ENST00000225729.3	+	3	422	c.284C>T	c.(283-285)aCc>aTc	p.T95I	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.T95I	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	95	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TATGAGTTCACCACTCTGACG	0.547																																						ENST00000225729.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14						c.(283-285)aCc>aTc		developmentally regulated GTP binding protein 2							297.0	245.0	263.0					17																	18001642		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18001642C>T	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.284C>T	17.37:g.18001642C>T	ENSP00000225729:p.Thr95Ile					DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.T95I	p.T95I	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN			3	422	+	all_neural(463;0.228)		95			G.		B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.284C>T	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021445	0.54576	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.22743	1.94;1.94	4.71	4.71	0.59529	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78886	-0.2027	10	0.87932	D	0	-22.6661	17.8708	0.88810	0.0:1.0:0.0:0.0	.	95;95;95	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	I	95	ENSP00000379076:T95I;ENSP00000225729:T95I	ENSP00000225729:T95I	T	+	2	0	DRG2	17942367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.437000	0.82529	0.563000	0.77884	ACC		0.547	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388		25	152	0	0	0	1	0	25	152				
ZMIZ2	83637	broad.mit.edu	37	7	44799758	44799758	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44799758G>A	ENST00000309315.4	+	8	1125	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	ZMIZ2_ENST00000441627.1_Silent_p.E334E|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000433667.1_Silent_p.E302E|ZMIZ2_ENST00000413916.1_Intron	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	334	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCCACAGAGCAGTTCAACG	0.682																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1000-1002)gaG>gaA		zinc finger, MIZ-type containing 2							29.0	36.0	34.0					7																	44799758		1997	4165	6162	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44799758G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1002G>A	7.37:g.44799758G>A						ZMIZ2_ENST00000433667.1_Silent_p.E302E|ZMIZ2_ENST00000441627.1_Silent_p.E334E|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron	p.E334E	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			8	1125	+			334			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1002G>A	CCDS43576.1																																																																																				0.682	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		13	18	0	0	0	1	0	13	18				
CPNE4	131034	broad.mit.edu	37	3	131261517	131261517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131261517C>T	ENST00000512055.1	-	19	3549	c.1423G>A	c.(1423-1425)Gct>Act	p.A475T	CPNE4_ENST00000512332.1_Missense_Mutation_p.A493T|CPNE4_ENST00000429747.1_Missense_Mutation_p.A475T|CPNE4_ENST00000502818.1_Missense_Mutation_p.A493T|CPNE4_ENST00000511604.1_Missense_Mutation_p.A475T			Q96A23	CPNE4_HUMAN	copine IV	475	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGAAGTCAGCGTTCCCTACT	0.562																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1423-1425)Gct>Act		copine IV							176.0	148.0	157.0					3																	131261517		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261517C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1423G>A	3.37:g.131261517C>T	ENSP00000421705:p.Ala475Thr					CPNE4_ENST00000429747.1_Missense_Mutation_p.A475T|CPNE4_ENST00000512332.1_Missense_Mutation_p.A493T|CPNE4_ENST00000511604.1_Missense_Mutation_p.A475T|CPNE4_ENST00000502818.1_Missense_Mutation_p.A493T	p.A475T			Q96A23	CPNE4_HUMAN			19	3549	-			475			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1423G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249427	0.95305	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.74131	-0.3764	10	0.87932	D	0	-15.7907	19.5825	0.95473	0.0:1.0:0.0:0.0	.	493;475	Q96A23-2;Q96A23	.;CPNE4_HUMAN	T	475;475;493;475;493	ENSP00000421705:A475T;ENSP00000411904:A475T;ENSP00000424853:A493T;ENSP00000423811:A475T;ENSP00000421646:A493T	ENSP00000411904:A475T	A	-	1	0	CPNE4	132744207	1.000000	0.71417	0.933000	0.37362	0.805000	0.45488	7.765000	0.85310	2.624000	0.88883	0.655000	0.94253	GCT		0.562	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		4	68	0	0	0	1	0	4	68				
C12orf10	60314	broad.mit.edu	37	12	53700495	53700495	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53700495C>T	ENST00000267103.5	+	6	849	c.797C>T	c.(796-798)gCg>gTg	p.A266V	C12orf10_ENST00000548632.1_Missense_Mutation_p.A191V|C12orf10_ENST00000549488.1_Missense_Mutation_p.A103V|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	266					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGAACTGGCGAAAGGTGCA	0.517																																						ENST00000267103.5																			0				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(796-798)gCg>gTg		chromosome 12 open reading frame 10							133.0	110.0	117.0					12																	53700495		2203	4300	6503	SO:0001583	missense	60314							g.chr12:53700495C>T	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.797C>T	12.37:g.53700495C>T	ENSP00000267103:p.Ala266Val					C12orf10_ENST00000549488.1_Missense_Mutation_p.A103V|C12orf10_ENST00000548632.1_Missense_Mutation_p.A191V	p.A266V	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN			6	849	+			266						Missense_Mutation	SNP	ENST00000267103.5	37	c.797C>T	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.611916	0.28712	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.43688	0.94;0.94;0.94	4.3	1.49	0.22878	.	0.382709	0.29653	N	0.011553	T	0.16128	0.0388	N	0.08118	0	0.25596	N	0.986645	P;P	0.39920	0.695;0.567	B;B	0.32090	0.14;0.108	T	0.11616	-1.0580	10	0.34782	T	0.22	-8.0273	5.8068	0.18444	0.1556:0.6704:0.0:0.174	.	215;266	F5H641;Q9HB07	.;MYG1_HUMAN	V	266;151;215;191;103	ENSP00000267103:A266V;ENSP00000450270:A191V;ENSP00000448433:A103V	ENSP00000267103:A266V	A	+	2	0	C12orf10	51986762	0.002000	0.14202	0.939000	0.37840	0.698000	0.40448	1.173000	0.31920	0.361000	0.24292	-0.119000	0.15052	GCG		0.517	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		21	32	0	0	0	1	0	21	32				
PEAK1	79834	broad.mit.edu	37	15	77425417	77425417	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77425417C>T	ENST00000560626.2	-	6	4482	c.4007G>A	c.(4006-4008)tGt>tAt	p.C1336Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.C1336Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACCTGCCTCACAACATGGTTT	0.418																																						ENST00000560626.2																			0											c.(4006-4008)tGt>tAt		pseudopodium-enriched atypical kinase 1							88.0	88.0	88.0					15																	77425417		1929	4144	6073	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425417C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4007G>A	15.37:g.77425417C>T	ENSP00000452796:p.Cys1336Tyr					PEAK1_ENST00000312493.4_Missense_Mutation_p.C1336Y	p.C1336Y			Q9H792	PEAK1_HUMAN			6	4482	-			1336			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4007G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521458	0.85600	.	.	ENSG00000173517	ENST00000312493	T	0.30448	1.53	5.56	5.56	0.83823	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60378	-0.7275	10	0.87932	D	0	-2.494	19.5258	0.95206	0.0:1.0:0.0:0.0	.	1336	Q9H792	PEAK1_HUMAN	Y	1336	ENSP00000309230:C1336Y	ENSP00000309230:C1336Y	C	-	2	0	AC087465.1	75212472	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.612000	0.88384	0.655000	0.94253	TGT		0.418	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			28	36	0	0	0	1	0	28	36				
HLA-F	3134	broad.mit.edu	37	6	29692036	29692036	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29692036G>A	ENST00000376861.1	+	4	805	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	HLA-F_ENST00000434407.2_Missense_Mutation_p.G141S|HLA-F_ENST00000334668.4_Missense_Mutation_p.G141S|HLA-F_ENST00000259951.7_Missense_Mutation_p.G141S|HLA-F_ENST00000440587.2_Missense_Mutation_p.G23S			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	141	Alpha-2.				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)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGCGTACGACGGCAAGGATTA	0.642																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(67-69)Ggc>Agc		major histocompatibility complex, class I, F							98.0	98.0	98.0					6																	29692036		1510	2709	4219	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29692036G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.421G>A	6.37:g.29692036G>A	ENSP00000366057:p.Gly141Ser					HLA-F_ENST00000334668.4_Missense_Mutation_p.G141S|HLA-F_ENST00000259951.7_Missense_Mutation_p.G141S|HLA-F_ENST00000434407.2_Missense_Mutation_p.G141S|HLA-F_ENST00000376861.1_Missense_Mutation_p.G141S	p.G23S			P30511	HLAF_HUMAN			3	426	+			141			Alpha-1.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.67G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337366	0.60963	.	.	ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	T;T;T;T;T	0.00462	7.26;7.26;7.26;7.26;7.26	1.63	1.63	0.23807	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.36628	U	0.002493	T	0.00967	0.0032	H	0.97291	3.975	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.991;0.984;0.997	T	0.40961	-0.9535	10	0.87932	D	0	.	6.5823	0.22602	0.0:0.0:1.0:0.0	.	141;141;141;141	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	S	141;118;141;141;23;141	ENSP00000366057:G141S;ENSP00000334263:G141S;ENSP00000259951:G141S;ENSP00000404130:G23S;ENSP00000397376:G141S	ENSP00000259951:G141S	G	+	1	0	HLA-F	29800015	0.944000	0.32072	0.095000	0.20976	0.081000	0.17604	3.251000	0.51453	0.871000	0.35750	0.436000	0.28706	GGC		0.642	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		16	48	0	0	0	1	0	16	48				
RFX2	5990	broad.mit.edu	37	19	5997117	5997117	+	Missense_Mutation	SNP	C	C	T	rs571540930		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5997117C>T	ENST00000303657.5	-	16	2116	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	RFX2_ENST00000359161.3_Missense_Mutation_p.R656H|RFX2_ENST00000592546.1_Missense_Mutation_p.R631H|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R656H(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCGCGACGCGGTGCTCCAC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.0				Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			1	Substitution - Missense(1)	p.R656H(1)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1966-1968)cGc>cAc		regulatory factor X, 2 (influences HLA class II expression)							74.0	61.0	65.0					19																	5997117		2203	4300	6503	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:5997117C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1967G>A	19.37:g.5997117C>T	ENSP00000306335:p.Arg656His					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.R631H|RFX2_ENST00000359161.3_Missense_Mutation_p.R656H	p.R656H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			16	2116	-			656					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1967G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617955	0.96649	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.45276	0.9	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.962	T	0.67225	-0.5724	10	0.38643	T	0.18	-35.6259	17.1348	0.86736	0.0:1.0:0.0:0.0	.	631;656	P48378-2;P48378	.;RFX2_HUMAN	H	656;631;443	ENSP00000306335:R656H	ENSP00000306335:R656H	R	-	2	0	RFX2	5948117	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	7.658000	0.83755	2.374000	0.81015	0.655000	0.94253	CGC		0.682	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		16	16	0	0	0	1	0	16	16				
RRAGB	10325	broad.mit.edu	37	X	55777598	55777598	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:55777598G>A	ENST00000262850.7	+	7	1108	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000374941.4_Missense_Mutation_p.R194Q	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCTTGTTTCCGAACATCTATC	0.373													G|||	1	0.000264901	0.0	0.0	3775	,	,		12752	0.0		0.0	False		,,,				2504	0.001					ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(580-582)cGa>cAa		Ras-related GTP binding B							93.0	78.0	83.0					X																	55777598		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55777598G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.665G>A	X.37:g.55777598G>A	ENSP00000262850:p.Arg222Gln					RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Missense_Mutation_p.R222Q	p.R194Q	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			6	1170	+			222						Missense_Mutation	SNP	ENST00000262850.7	37	c.581G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351054	0.41599	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.62941	-0.01;-0.0	4.59	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.31420	0.93	0.58432	D	0.999997	B;B	0.24823	0.037;0.112	B;B	0.22753	0.018;0.041	T	0.23726	-1.0180	10	0.12766	T	0.61	-4.8534	11.6747	0.51424	0.0:0.1767:0.8233:0.0	.	194;222	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	Q	194;156;222	ENSP00000364077:R194Q;ENSP00000410630:R156Q	ENSP00000262850:R222Q	R	+	2	0	RRAGB	55794323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.008000	0.93601	0.834000	0.34852	0.600000	0.82982	CGA		0.373	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		18	5	0	0	0	1	0	18	5				
LCMT1	51451	broad.mit.edu	37	16	25139801	25139801	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:25139801C>T	ENST00000399069.3	+	2	274	c.119C>T	c.(118-120)gCa>gTa	p.A40V	LCMT1_ENST00000380966.4_Missense_Mutation_p.A40V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	40					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TCCAGGTTTGCAGTAAGCATT	0.478																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(118-120)gCa>gTa		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						55.0	53.0	53.0					16																	25139801		1927	4139	6066	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25139801C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.119C>T	16.37:g.25139801C>T	ENSP00000382021:p.Ala40Val					LCMT1_ENST00000380966.4_Missense_Mutation_p.A40V	p.A40V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	2	274	+			40					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.119C>T	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694975	0.88830	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.24723	1.84;1.84	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70238	-0.4927	10	0.72032	D	0.01	-10.6611	15.2774	0.73753	0.0:1.0:0.0:0.0	.	40;40	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	V	40;40;57	ENSP00000382021:A40V;ENSP00000370353:A40V	ENSP00000370349:A57V	A	+	2	0	LCMT1	25047302	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	6.698000	0.74608	2.188000	0.69820	0.561000	0.74099	GCA		0.478	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		6	7	0	0	0	1	0	6	7				
SLC2A8	29988	broad.mit.edu	37	9	130167748	130167748	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130167748C>A	ENST00000373371.3	+	9	1289	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	SLC2A8_ENST00000373352.1_Silent_p.I137I|SLC2A8_ENST00000373360.3_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	400					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TGTCAGAGATCTTCCCTCTGC	0.622																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1198-1200)atC>atA		solute carrier family 2 (facilitated glucose transporter), member 8							97.0	80.0	86.0					9																	130167748		2203	4299	6502	SO:0001819	synonymous_variant	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167748C>A	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1200C>A	9.37:g.130167748C>A						SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.I137I	p.I400I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1289	+			400					Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	c.1200C>A	CCDS6870.1																																																																																				0.622	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		21	22	1	0	1.10513e-12	1	1.19686e-12	21	22				
ADORA3	140	broad.mit.edu	37	1	112045933	112045933	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:112045933T>C	ENST00000241356.4	-	1	449	c.44A>G	c.(43-45)tAc>tGc	p.Y15C	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.Y15C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	15					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CATGGTGATGTAGGTAACATT	0.547																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(43-45)tAc>tGc		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						64.0	53.0	57.0					1																	112045933		2202	4300	6502	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045933T>C	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.44A>G	1.37:g.112045933T>C	ENSP00000241356:p.Tyr15Cys					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.Y15C	p.Y15C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	449	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	15					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.44A>G	CCDS839.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395741	0.62177	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.37752	1.18;1.18	5.76	5.76	0.90799	.	0.000000	0.43579	D	0.000545	T	0.58148	0.2102	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.981;0.999	T	0.65903	-0.6055	10	0.66056	D	0.02	-26.6317	15.7381	0.77863	0.0:0.0:0.0:1.0	.	15;15	P33765;P33765-2	AA3R_HUMAN;.	C	15	ENSP00000358730:Y15C;ENSP00000241356:Y15C	ENSP00000241356:Y15C	Y	-	2	0	ADORA3	111847456	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	7.698000	0.84413	2.202000	0.70862	0.533000	0.62120	TAC		0.547	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		7	11	0	0	0	1	0	7	11				
WNK2	65268	broad.mit.edu	37	9	96079848	96079848	+	Missense_Mutation	SNP	C	C	T	rs147707800		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96079848C>T	ENST00000297954.4	+	29	6674	c.6674C>T	c.(6673-6675)gCg>gTg	p.A2225V	WNK2_ENST00000427277.2_Missense_Mutation_p.A1800V|WNK2_ENST00000349097.3_Missense_Mutation_p.A1837V|WNK2_ENST00000395477.2_Missense_Mutation_p.A2188V|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2225					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGCCCCCAGCGCCCGGCCCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16423	0.0		0.0	False		,,,				2504	0.0					ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6673-6675)gCg>gTg		WNK lysine deficient protein kinase 2		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	73.0	66.0	69.0		6563	-4.6	0.0	9	dbSNP_134	69	0,8600		0,0,4300	no	missense	WNK2	NM_006648.3	64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	2188/2218	96079848	3,13003	2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96079848C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6674C>T	9.37:g.96079848C>T	ENSP00000297954:p.Ala2225Val					WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A1837V|WNK2_ENST00000395477.2_Missense_Mutation_p.A2188V|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1800V	p.A2225V			Q9Y3S1	WNK2_HUMAN			29	6674	+			2225					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6674C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.748|8.748	0.920669|0.920669	0.17982|0.17982	6.81E-4|6.81E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.69806|.	-0.43;-0.39;0.2;0.23|.	5.8|5.8	-4.56|-4.56	0.03431|0.03431	.|.	0.891771|.	0.09390|.	N|.	0.808668|.	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P;B;B;P|.	0.47762|.	0.827;0.006;0.011;0.9|.	B;B;B;B|.	0.34489|.	0.184;0.001;0.002;0.106|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.06891|.	T|.	0.86|.	.|.	7.9169|7.9169	0.29822|0.29822	0.0:0.2339:0.2223:0.5438|0.0:0.2339:0.2223:0.5438	.|.	2188;1679;2188;2225|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|C	2225;2188;1837;1800|2184;985	ENSP00000297954:A2225V;ENSP00000378860:A2188V;ENSP00000297876:A1837V;ENSP00000411181:A1800V|.	ENSP00000297954:A2225V|.	A|R	+|+	2|1	0|0	WNK2|WNK2	95119669|95119669	0.063000|0.063000	0.20901|0.20901	0.000000|0.000000	0.03702|0.03702	0.142000|0.142000	0.21351|0.21351	-0.052000|-0.052000	0.11865|0.11865	-0.773000|-0.773000	0.04596|0.04596	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		9	11	0	0	0	1	0	9	11				
RNF214	257160	broad.mit.edu	37	11	117152859	117152859	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117152859G>A	ENST00000531452.1	+	11	1631	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	RNF214_ENST00000530849.1_Missense_Mutation_p.A374T|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.A529T|RNF214_ENST00000531287.1_Missense_Mutation_p.A374T	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	529	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCCCCTGCCGCCTCCATCCC	0.627																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1120-1122)Gcc>Acc		ring finger protein 214							87.0	94.0	92.0					11																	117152859		1900	4107	6007	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152859G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1585G>A	11.37:g.117152859G>A	ENSP00000431643:p.Ala529Thr					RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531452.1_Missense_Mutation_p.A529T|RNF214_ENST00000300650.4_Missense_Mutation_p.A529T|RNF214_ENST00000531287.1_Missense_Mutation_p.A374T	p.A374T			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1130	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	529					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1120G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389720	0.42410	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.36878	2.56;1.23;2.56;1.23	5.39	2.25	0.28309	.	0.354627	0.28803	N	0.014091	T	0.28267	0.0698	L	0.51422	1.61	0.41322	D	0.987188	B;B	0.13145	0.007;0.003	B;B	0.06405	0.002;0.002	T	0.12553	-1.0543	10	0.40728	T	0.16	-1.3361	7.2013	0.25883	0.1512:0.0:0.7119:0.1368	.	374;529	B4DTD1;Q8ND24	.;RN214_HUMAN	T	374;529;374;529;81	ENSP00000435361:A374T;ENSP00000431643:A529T;ENSP00000432903:A374T;ENSP00000300650:A529T	ENSP00000300650:A529T	A	+	1	0	RNF214	116658069	0.994000	0.37717	0.985000	0.45067	0.995000	0.86356	2.249000	0.43169	1.268000	0.44264	0.561000	0.74099	GCC		0.627	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		39	47	0	0	0	1	0	39	47				
KRTAP19-8	728299	broad.mit.edu	37	21	32410757	32410757	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:32410757G>A	ENST00000382822.2	-	1	38	c.6C>T	c.(4-6)agC>agT	p.S2S		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	2						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						TTCTGTAGTAGCTCATGGTTC	0.517																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(4-6)agC>agT		keratin associated protein 19-8							109.0	122.0	118.0					21																	32410757		2203	4300	6503	SO:0001819	synonymous_variant	728299					intermediate filament		g.chr21:32410757G>A	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.6C>T	21.37:g.32410757G>A							p.S2S	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	38	-			2						Silent	SNP	ENST00000382822.2	37	c.6C>T	CCDS42917.1																																																																																				0.517	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		37	18	0	0	0	1	0	37	18				
IGF2R	3482	broad.mit.edu	37	6	160482960	160482960	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:160482960G>A	ENST00000356956.1	+	25	3730	c.3582G>A	c.(3580-3582)tcG>tcA	p.S1194S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1194					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCAGATATCGGTGTGTGTTC	0.488																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e25+1		insulin-like growth factor 2 receptor							147.0	139.0	142.0					6																	160482960		2203	4300	6503	SO:0001630	splice_region_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160482960G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3582+1G>A	6.37:g.160482960G>A							p.S1194_splice	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	25	3730	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1194					Q7Z7G9|Q96PT5	Splice_Site	SNP	ENST00000356956.1	37	c.3582_splice	CCDS5273.1																																																																																				0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	Silent	10	22	0	0	0	1	0	10	22				
DHX36	170506	broad.mit.edu	37	3	154010465	154010465	+	Silent	SNP	G	G	A	rs373985162		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:154010465G>A	ENST00000496811.1	-	15	1769	c.1689C>T	c.(1687-1689)gtC>gtT	p.V563V	DHX36_ENST00000329463.5_Silent_p.V549V|DHX36_ENST00000544526.1_Silent_p.V549V|DHX36_ENST00000308361.6_Silent_p.V563V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	563	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCACATAAACGACATCATCTA	0.363																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1687-1689)gtC>gtT		DEAH (Asp-Glu-Ala-His) box polypeptide 36		G	,	1,4405	2.1+/-5.4	0,1,2202	132.0	125.0	128.0		1647,1689	-3.6	1.0	3		128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DHX36	NM_001114397.1,NM_020865.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	549/995,563/1009	154010465	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154010465G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1689C>T	3.37:g.154010465G>A						DHX36_ENST00000544526.1_Silent_p.V549V|DHX36_ENST00000308361.6_Silent_p.V563V|DHX36_ENST00000329463.5_Silent_p.V549V	p.V563V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		15	1769	-			563			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	c.1689C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851377	0.17034	2.27E-4	0.0	ENSG00000174953	ENST00000469977	.	.	.	6.17	-3.58	0.04597	.	.	.	.	.	T	0.46889	0.1416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	.	4.6914	0.12783	0.1006:0.1875:0.4801:0.2319	.	.	.	.	L	43	.	.	S	-	2	0	DHX36	155493159	0.000000	0.05858	0.993000	0.49108	0.977000	0.68977	-2.432000	0.01022	-0.299000	0.08909	-0.262000	0.10625	TCG		0.363	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		18	52	0	0	0	1	0	18	52				
CTNND2	1501	broad.mit.edu	37	5	11022936	11022936	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:11022936G>A	ENST00000304623.8	-	17	3133	c.2944C>T	c.(2944-2946)Cgg>Tgg	p.R982W	CTNND2_ENST00000511377.1_Missense_Mutation_p.R891W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R549W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R645W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R924W|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	982					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGGCATCCCGTAAGGCCTTG	0.507																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2944-2946)Cgg>Tgg		catenin (cadherin-associated protein), delta 2							200.0	154.0	169.0					5																	11022936		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022936G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2944C>T	5.37:g.11022936G>A	ENSP00000307134:p.Arg982Trp					CTNND2_ENST00000359640.2_Missense_Mutation_p.R924W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R645W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R549W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R891W	p.R982W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			17	3133	-			982					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2944C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774900	0.70107	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.64	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.988	T	0.70985	-0.4723	10	0.66056	D	0.02	-23.3082	15.8986	0.79356	0.0:0.0:0.8635:0.1365	.	645;574;982	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	W	982;924;891;77;549;645	ENSP00000307134:R982W;ENSP00000352661:R924W;ENSP00000426510:R891W;ENSP00000391155:R549W;ENSP00000426887:R645W	ENSP00000307134:R982W	R	-	1	2	CTNND2	11075936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.441000	0.44864	1.364000	0.46038	0.655000	0.94253	CGG		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		22	37	0	0	0	1	0	22	37				
PRR23C	389152	broad.mit.edu	37	3	138763018	138763018	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138763018C>T	ENST00000413199.1	-	1	716	c.445G>A	c.(445-447)Gct>Act	p.A149T	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.A149T	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	149										breast(2)|lung(7)|skin(2)	11						TCCTCGGCAGCGATCTCTGGG	0.667																																						ENST00000413199.1																			0				breast(2)|lung(7)|skin(2)	11						c.(445-447)Gct>Act		proline rich 23C							38.0	40.0	39.0					3																	138763018		692	1591	2283	SO:0001583	missense	389152							g.chr3:138763018C>T		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.445G>A	3.37:g.138763018C>T	ENSP00000396648:p.Ala149Thr					PRR23C_ENST00000502927.2_Missense_Mutation_p.A149T|MRPS22_ENST00000495075.1_Intron	p.A149T	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN			1	716	-			149						Missense_Mutation	SNP	ENST00000413199.1	37	c.445G>A	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857731	0.51376	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	2.89	1.94	0.25998	.	1.397370	0.05141	N	0.494262	T	0.59742	0.2216	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33523	-0.9865	9	0.44086	T	0.13	.	6.8157	0.23829	0.2775:0.7225:0.0:0.0	.	149	Q6ZRP0	PR23C_HUMAN	T	149	.	ENSP00000396648:A149T	A	-	1	0	PRR23C	140245708	0.006000	0.16342	0.001000	0.08648	0.019000	0.09904	0.626000	0.24492	0.728000	0.32382	0.455000	0.32223	GCT		0.667	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		4	8	0	0	0	1	0	4	8				
SAMD8	142891	broad.mit.edu	37	10	76868940	76868940	+	5'Flank	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:76868940C>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000491677.2_De_novo_Start_OutOfFrame|SAMD8_ENST00000372687.4_5'Flank|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372702.3_De_novo_Start_OutOfFrame|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000372700.3_De_novo_Start_OutOfFrame	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACCCCTCTGCCTCTGTGGTCA	0.617																																						ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8								dual specificity phosphatase 13							28.0	31.0	30.0					10																	76868940		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868940C>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868940C>A	Exception_encountered					DUSP13_ENST00000491677.2_De_novo_Start_OutOfFrame|DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000372700.3_De_novo_Start_OutOfFrame|DUSP13_ENST00000607009.1_5'UTR				Q6B8I1	MDSP_HUMAN			0	39	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)							Q5JSC5|Q5JSC8|Q66K52	Translation_Start_Site	SNP	ENST00000542569.1	37		CCDS53543.1																																																																																				0.617	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		4	14	1	0	1	1	1	4	14				
EPHA8	2046	broad.mit.edu	37	1	22902839	22902839	+	Missense_Mutation	SNP	G	G	A	rs562198376		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22902839G>A	ENST00000166244.3	+	3	361	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V97I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V97I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.V97I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCGGCGCGTCTATGCTGA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18645	0.0		0.0	False		,,,				2504	0.0					ENST00000166244.3																			1	Substitution - Missense(1)	p.V97I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(289-291)Gtc>Atc		EPH receptor A8							60.0	60.0	60.0					1																	22902839		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902839G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.289G>A	1.37:g.22902839G>A	ENSP00000166244:p.Val97Ile					EPHA8_ENST00000374644.4_Missense_Mutation_p.V97I|EPHA8_ENST00000538803.1_Missense_Mutation_p.V97I	p.V97I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	361	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	97					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.289G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	0.917	-0.717212	0.03182	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.09538	2.97;2.97;2.97	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.075171	0.53938	D	0.000051	T	0.04634	0.0126	N	0.04275	-0.24	0.38872	D	0.956717	B;B	0.24043	0.096;0.009	B;B	0.17722	0.012;0.019	T	0.19192	-1.0313	10	0.02654	T	1	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	97;97	P29322;P29322-2	EPHA8_HUMAN;.	I	97	ENSP00000166244:V97I;ENSP00000363775:V97I;ENSP00000440274:V97I	ENSP00000166244:V97I	V	+	1	0	EPHA8	22775426	0.997000	0.39634	0.984000	0.44739	0.505000	0.33919	2.565000	0.45939	2.212000	0.71576	0.442000	0.29010	GTC		0.607	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		13	32	0	0	0	1	0	13	32				
MRAS	22808	broad.mit.edu	37	3	138121062	138121062	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138121062G>A	ENST00000289104.4	+	6	1225	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	MRAS_ENST00000474559.1_Missense_Mutation_p.R193Q|MRAS_ENST00000464896.1_Missense_Mutation_p.R117Q|MRAS_ENST00000423968.2_Missense_Mutation_p.R193Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	193					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACCAAATGGCGGGGAGACCGG	0.532																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(577-579)cGg>cAg		muscle RAS oncogene homolog							57.0	66.0	63.0					3																	138121062		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138121062G>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.578G>A	3.37:g.138121062G>A	ENSP00000289104:p.Arg193Gln					MRAS_ENST00000464896.1_Missense_Mutation_p.R117Q|MRAS_ENST00000474559.1_Missense_Mutation_p.R193Q|MRAS_ENST00000423968.2_Missense_Mutation_p.R193Q	p.R193Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			6	1225	+			193					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.578G>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767560	0.49574	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000464896;ENST00000474559	T;T;T;T	0.72942	-0.22;-0.22;-0.7;-0.22	5.39	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	N	0.14661	0.345	0.58432	D	0.999997	B	0.12630	0.006	B	0.06405	0.002	T	0.44877	-0.9299	10	0.29301	T	0.29	.	12.0004	0.53226	0.0846:0.0:0.9154:0.0	.	193	O14807	RASM_HUMAN	Q	193;193;117;193	ENSP00000289104:R193Q;ENSP00000389682:R193Q;ENSP00000419582:R117Q;ENSP00000418356:R193Q	ENSP00000289104:R193Q	R	+	2	0	MRAS	139603752	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	9.266000	0.95659	1.272000	0.44329	0.561000	0.74099	CGG		0.532	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			3	13	0	0	0	1	0	3	13				
ABCG4	64137	broad.mit.edu	37	11	119027082	119027082	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119027082A>G	ENST00000449422.2	+	7	918	c.730A>G	c.(730-732)Aag>Gag	p.K244E	ABCG4_ENST00000531739.1_Missense_Mutation_p.K244E|ABCG4_ENST00000307417.3_Missense_Mutation_p.K244E	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	244	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTCCCTCATGAAGTCCCTGGC	0.587																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(730-732)Aag>Gag		ATP-binding cassette, sub-family G (WHITE), member 4							145.0	136.0	139.0					11																	119027082		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027082A>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.730A>G	11.37:g.119027082A>G	ENSP00000406874:p.Lys244Glu					ABCG4_ENST00000531739.1_Missense_Mutation_p.K244E|ABCG4_ENST00000449422.2_Missense_Mutation_p.K244E	p.K244E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	1094	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	244			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.730A>G	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665275	0.67700	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.44482	0.92;0.92;0.92	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.290817	0.37012	N	0.002288	T	0.37839	0.1018	L	0.41236	1.265	0.58432	D	0.999993	P	0.52316	0.952	P	0.44422	0.449	T	0.34329	-0.9833	10	0.87932	D	0	-26.5852	11.7288	0.51724	0.8423:0.1577:0.0:0.0	.	244	Q9H172	ABCG4_HUMAN	E	244	ENSP00000304111:K244E;ENSP00000406874:K244E;ENSP00000434318:K244E	ENSP00000304111:K244E	K	+	1	0	ABCG4	118532292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	2.083000	0.62718	0.528000	0.53228	AAG		0.587	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		43	59	0	0	0	1	0	43	59				
DYNC2LI1	51626	broad.mit.edu	37	2	44028050	44028050	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44028050A>G	ENST00000260605.8	+	9	825	c.725A>G	c.(724-726)gAc>gGc	p.D242G	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D116G|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D243G|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	242					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTGGCATTGACAAAAGGTAC	0.318																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(724-726)gAc>gGc		dynein, cytoplasmic 2, light intermediate chain 1							87.0	93.0	91.0					2																	44028050		2203	4298	6501	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44028050A>G		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.725A>G	2.37:g.44028050A>G	ENSP00000260605:p.Asp242Gly					DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D243G|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D116G	p.D242G	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN			9	825	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	242					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.725A>G	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.76|11.76	1.735376|1.735376	0.30774|0.30774	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.16897|.	2.31;2.31|.	5.09|5.09	3.94|3.94	0.45596|0.45596	.|.	0.142348|.	0.64402|.	N|.	0.000008|.	T|T	0.53142|0.53142	0.1778|0.1778	L|L	0.38175|0.38175	1.15|1.15	0.53688|0.53688	D|D	0.999971|0.999971	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.52906|.	T|.	0.07|.	-4.6274|-4.6274	10.7932|10.7932	0.46445|0.46445	0.926:0.0:0.074:0.0|0.926:0.0:0.074:0.0	.|.	243;242;242|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	G|A	242;116|226	ENSP00000260605:D242G;ENSP00000388941:D116G|.	ENSP00000260605:D242G|.	D|T	+|+	2|1	0|0	DYNC2LI1|DYNC2LI1	43881554|43881554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.058000|5.058000	0.64300|0.64300	0.960000|0.960000	0.38005|0.38005	0.477000|0.477000	0.44152|0.44152	GAC|ACA		0.318	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		4	41	0	0	0	1	0	4	41				
ATG5	9474	broad.mit.edu	37	6	106727655	106727655	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:106727655G>A	ENST00000369076.3	-	5	682	c.359C>T	c.(358-360)gCa>gTa	p.A120V	ATG5_ENST00000343245.3_Missense_Mutation_p.A120V|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.A42V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	120					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		AGCTTCAATTGCATCCTTAGA	0.313																																						ENST00000369076.3																			0				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(358-360)gCa>gTa		autophagy related 5							100.0	95.0	97.0					6																	106727655		2203	4299	6502	SO:0001583	missense	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106727655G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.359C>T	6.37:g.106727655G>A	ENSP00000358072:p.Ala120Val					ATG5_ENST00000369070.1_Missense_Mutation_p.A42V|ATG5_ENST00000343245.3_Missense_Mutation_p.A120V|ATG5_ENST00000360666.4_Intron	p.A120V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	5	682	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	120					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	c.359C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	4.988	0.183553	0.09495	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	4.2	0.49525	.	0.332623	0.34802	N	0.003679	T	0.10252	0.0251	N	0.03281	-0.365	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.13308	-1.0514	9	0.17832	T	0.49	-39.0717	6.8641	0.24084	0.4259:0.0:0.5741:0.0	.	120;42;120	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	V	120;120;42	.	ENSP00000343313:A120V	A	-	2	0	ATG5	106834348	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.066000	0.57520	0.792000	0.33850	-0.345000	0.07892	GCA		0.313	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		19	64	0	0	0	1	0	19	64				
PCDH9	5101	broad.mit.edu	37	13	67800963	67800963	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67800963C>T	ENST00000377865.2	-	1	1744	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDH9_ENST00000456367.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.R537Q|PCDH9_ENST00000544246.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R537Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGAATCGTTCTTGTTC	0.463																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1609-1611)cGa>cAa		protocadherin 9							87.0	89.0	88.0					13																	67800963		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800963C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1610G>A	13.37:g.67800963C>T	ENSP00000367096:p.Arg537Gln					PCDH9_ENST00000377861.3_Missense_Mutation_p.R537Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R537Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.R537Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.R537Q	p.R537Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2301	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	537			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1610G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299159	0.60195	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.08	6.08	0.98989	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.17838	0.53	0.58432	D	0.999994	D;D;D;D	0.65815	0.978;0.99;0.994;0.995	P;P;P;D	0.63283	0.821;0.806;0.859;0.913	T	0.57602	-0.7783	10	0.62326	D	0.03	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	537;537;537;537	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Q	537	ENSP00000442186:R537Q;ENSP00000367096:R537Q;ENSP00000401699:R537Q;ENSP00000332060:R537Q;ENSP00000367092:R537Q	ENSP00000332060:R537Q	R	-	2	0	PCDH9	66698964	0.974000	0.33945	0.732000	0.30844	0.992000	0.81027	6.089000	0.71384	2.894000	0.99253	0.655000	0.94253	CGA		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		35	10	0	0	0	1	0	35	10				
ROCK2	9475	broad.mit.edu	37	2	11376008	11376008	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11376008C>T	ENST00000315872.6	-	5	991	c.543G>A	c.(541-543)atG>atA	p.M181I	ROCK2_ENST00000462366.1_5'Flank|RNU6-1081P_ENST00000384537.1_RNA|ROCK2_ENST00000401753.1_5'Flank	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATAATTACTCATAAGGTTTA	0.388																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(541-543)atG>atA		Rho-associated, coiled-coil containing protein kinase 2							122.0	119.0	120.0					2																	11376008		2074	4242	6316	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11376008C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.543G>A	2.37:g.11376008C>T	ENSP00000317985:p.Met181Ile						p.M181I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	5	991	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		181			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.543G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593002	0.86953	.	.	ENSG00000134318	ENST00000315872	T	0.60040	0.22	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043881	0.85682	D	0.000000	T	0.51534	0.1680	N	0.02960	-0.455	0.80722	D	1	P	0.51057	0.941	P	0.54544	0.755	T	0.65026	-0.6268	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	181	O75116	ROCK2_HUMAN	I	181	ENSP00000317985:M181I	ENSP00000261535:M181I	M	-	3	0	ROCK2	11293459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.569000	0.36428	2.847000	0.97988	0.591000	0.81541	ATG		0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			30	49	0	0	0	1	0	30	49				
FAM104A	84923	broad.mit.edu	37	17	71228390	71228390	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71228390C>T	ENST00000403627.3	-	1	116	c.56G>A	c.(55-57)gGg>gAg	p.G19E	C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000405159.3_Missense_Mutation_p.G19E|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000268942.8_5'Flank|FAM104A_ENST00000583024.1_Missense_Mutation_p.G19E|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000359042.2_5'Flank|C17orf80_ENST00000255557.4_5'UTR|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000581110.1_Missense_Mutation_p.G19E	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	19										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCGAGTACCCCTCAGTCGG	0.721																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(55-57)gGg>gAg		family with sequence similarity 104, member A							22.0	30.0	27.0					17																	71228390		2167	4252	6419	SO:0001583	missense	84923							g.chr17:71228390C>T	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.56G>A	17.37:g.71228390C>T	ENSP00000384648:p.Gly19Glu					FAM104A_ENST00000403627.3_Missense_Mutation_p.G19E|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.G19E|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583024.1_Missense_Mutation_p.G19E	p.G19E	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	120	-			19					B4E339	Missense_Mutation	SNP	ENST00000403627.3	37	c.56G>A	CCDS11693.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468397	0.84533	.	.	ENSG00000133193	ENST00000403627;ENST00000405159	T;T	0.60548	0.39;0.18	5.1	5.1	0.69264	.	.	.	.	.	T	0.57403	0.2051	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.981;0.99	T	0.65825	-0.6074	9	0.87932	D	0	.	13.9232	0.63945	0.0:1.0:0.0:0.0	.	19;19	Q969W3-2;Q969W3	.;F104A_HUMAN	E	19	ENSP00000384648:G19E;ENSP00000384832:G19E	ENSP00000384648:G19E	G	-	2	0	FAM104A	68739985	1.000000	0.71417	0.952000	0.39060	0.600000	0.36913	3.051000	0.49885	2.652000	0.90054	0.655000	0.94253	GGG		0.721	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		14	35	0	0	0	1	0	14	35				
L2HGDH	79944	broad.mit.edu	37	14	50750647	50750647	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50750647G>A	ENST00000267436.4	-	5	1042	c.645C>T	c.(643-645)acC>acT	p.T215T	L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000555423.1_Silent_p.T215T|L2HGDH_ENST00000261699.4_Silent_p.T215T|L2HGDH_ENST00000421284.3_Silent_p.T215T			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	215					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTTCAAAATTGGTCAAGACAG	0.413																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(643-645)acC>acT		L-2-hydroxyglutarate dehydrogenase							84.0	88.0	87.0					14																	50750647		2203	4300	6503	SO:0001819	synonymous_variant	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50750647G>A		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.645C>T	14.37:g.50750647G>A						L2HGDH_ENST00000421284.3_Silent_p.T215T|L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000555423.1_Silent_p.T215T|L2HGDH_ENST00000261699.4_Silent_p.T215T	p.T215T			Q9H9P8	L2HDH_HUMAN			5	1042	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		215					Q9BRR1	Silent	SNP	ENST00000267436.4	37	c.645C>T	CCDS9698.1																																																																																				0.413	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		36	61	0	0	0	1	0	36	61				
CHRDL2	25884	broad.mit.edu	37	11	74415650	74415650	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74415650G>A	ENST00000376332.3	-	7	1128	c.632C>T	c.(631-633)cCg>cTg	p.P211L	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.P211L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	211					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TGGGGTGCCCGGGCCTCTCTT	0.592																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(631-633)cCg>cTg		chordin-like 2							36.0	38.0	37.0					11																	74415650		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74415650G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.632C>T	11.37:g.74415650G>A	ENSP00000365510:p.Pro211Leu					CHRDL2_ENST00000263671.5_Missense_Mutation_p.P211L|CHRDL2_ENST00000534159.1_5'UTR	p.P211L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			7	1128	-	Hepatocellular(1;0.098)		211					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.632C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.633|8.633	0.894225|0.894225	0.17613|0.17613	.|.	.|.	ENSG00000054938|ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789|ENST00000525413	T;T;T|.	0.60171|.	0.93;0.98;0.21|.	5.27|5.27	-4.41|-4.41	0.03590|0.03590	.|.	0.696895|.	0.14390|.	N|.	0.322613|.	T|T	0.31199|0.31199	0.0789|0.0789	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.10296|.	0.001;0.001;0.003|.	B;B;B|.	0.09377|.	0.001;0.003;0.004|.	T|T	0.35574|0.35574	-0.9783|-0.9783	10|5	0.21540|.	T|.	0.41|.	1.1982|1.1982	13.0203|13.0203	0.58781|0.58781	0.4923:0.0:0.5077:0.0|0.4923:0.0:0.5077:0.0	.|.	211;211;211|.	E9PCG7;Q6WN34;Q6WN34-2|.	.;CRDL2_HUMAN;.|.	L|W	211;211;97;95;211|11	ENSP00000263671:P211L;ENSP00000365510:P211L;ENSP00000431380:P211L|.	ENSP00000263671:P211L|.	P|R	-|-	2|1	0|2	CHRDL2|CHRDL2	74093298|74093298	0.004000|0.004000	0.15560|0.15560	0.007000|0.007000	0.13788|0.13788	0.517000|0.517000	0.34286|0.34286	-0.049000|-0.049000	0.11924|0.11924	-0.748000|-0.748000	0.04753|0.04753	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.592	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			11	14	0	0	0	1	0	11	14				
TPO	7173	broad.mit.edu	37	2	1499804	1499804	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:1499804C>T	ENST00000345913.4	+	12	2141	c.2050C>T	c.(2050-2052)Cgt>Tgt	p.R684C	TPO_ENST00000382201.3_Missense_Mutation_p.R627C|TPO_ENST00000349624.3_Missense_Mutation_p.R511C|TPO_ENST00000329066.4_Missense_Mutation_p.R684C|TPO_ENST00000346956.3_Missense_Mutation_p.R684C|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R684C|TPO_ENST00000382198.1_Missense_Mutation_p.R511C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	684					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.R684C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCACAGAGGCGTGAGCTGGA	0.577																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.R684C(1)	ovary(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2050-2052)Cgt>Tgt		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78.0	63.0	68.0					2																	1499804		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499804C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2050C>T	2.37:g.1499804C>T	ENSP00000318820:p.Arg684Cys					TPO_ENST00000329066.4_Missense_Mutation_p.R684C|TPO_ENST00000382198.1_Missense_Mutation_p.R511C|TPO_ENST00000346956.3_Missense_Mutation_p.R684C|TPO_ENST00000349624.3_Missense_Mutation_p.R511C|TPO_ENST00000337415.3_Missense_Mutation_p.R684C|TPO_ENST00000382201.3_Missense_Mutation_p.R627C|TPO_ENST00000497517.2_Intron	p.R684C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2141	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	684					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2050C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	7.302	0.613147	0.14066	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	4.52	4.52	0.55395	.	1.024840	0.07679	N	0.936752	T	0.71837	0.3387	M	0.80332	2.49	0.80722	D	1	B;P;B;B	0.36789	0.028;0.57;0.051;0.035	B;B;B;B	0.24269	0.01;0.052;0.014;0.017	T	0.72093	-0.4394	10	0.49607	T	0.09	-9.0606	8.7369	0.34534	0.0:0.8284:0.0:0.1716	.	684;511;627;684	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	684;684;684;511;684;627;511;613;158	ENSP00000337263:R684C;ENSP00000318820:R684C;ENSP00000263886:R684C;ENSP00000332044:R511C;ENSP00000329869:R684C;ENSP00000371636:R627C;ENSP00000371633:R511C;ENSP00000405788:R613C;ENSP00000419461:R158C	ENSP00000329869:R684C	R	+	1	0	TPO	1478811	0.036000	0.19791	0.197000	0.23402	0.084000	0.17831	0.320000	0.19540	2.239000	0.73571	0.561000	0.74099	CGT		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	11	0	0	0	1	0	3	11				
KRI1	65095	broad.mit.edu	37	19	10668529	10668529	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10668529G>A	ENST00000312962.6	-	15	1439	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	KRI1_ENST00000361821.5_Missense_Mutation_p.R470C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	468						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGGCCTCGCGCTTTTTCTTC	0.687																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1420-1422)Cgc>Tgc		KRI1 homolog (S. cerevisiae)							31.0	33.0	32.0					19																	10668529		2203	4299	6502	SO:0001583	missense	65095							g.chr19:10668529G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1420C>T	19.37:g.10668529G>A	ENSP00000320917:p.Arg474Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R470C	p.R474C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1439	-			474					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1420C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	6.724	0.502368	0.12822	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09538	3.14;2.97	5.36	1.73	0.24493	.	0.710364	0.13943	N	0.352040	T	0.11067	0.0270	L	0.56769	1.78	0.09310	N	0.999995	B;B	0.15473	0.003;0.013	B;B	0.06405	0.001;0.002	T	0.16276	-1.0408	10	0.51188	T	0.08	-2.3893	7.0607	0.25123	0.1771:0.0:0.6767:0.1462	.	474;470	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	474;470;474	ENSP00000320917:R474C;ENSP00000355366:R470C	ENSP00000320917:R474C	R	-	1	0	KRI1	10529529	0.001000	0.12720	0.018000	0.16275	0.006000	0.05464	0.871000	0.28023	1.269000	0.44280	0.563000	0.77884	CGC		0.687	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		12	14	0	0	0	1	0	12	14				
PLEC	5339	broad.mit.edu	37	8	144995788	144995788	+	Missense_Mutation	SNP	G	G	A	rs200202579	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144995788G>A	ENST00000322810.4	-	32	8781	c.8612C>T	c.(8611-8613)gCg>gTg	p.A2871V	PLEC_ENST00000527096.1_Missense_Mutation_p.A2757V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2761V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2720V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2702V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2712V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2738V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2734V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2734V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2871	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGAGGCCGCCTGCGCCTC	0.662													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		15116	0.0		0.0	False		,,,				2504	0.0					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8611-8613)gCg>gTg		plectin		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	3,4137		0,3,2067	26.0	31.0	30.0		8282,8159,8135,8612,8105,8201,8213,8201	4.3	0.9	8		30	14,8334		0,14,4160	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	64,64,64,64,64,64,64,64	0,17,6227	AA,AG,GG		0.1677,0.0725,0.1361	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2761/4575,2720/4534,2712/4526,2871/4685,2702/4516,2734/4548,2738/4552,2734/4548	144995788	17,12471	2070	4174	6244	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995788G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8612C>T	8.37:g.144995788G>A	ENSP00000323856:p.Ala2871Val					PLEC_ENST00000436759.2_Missense_Mutation_p.A2761V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2702V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2720V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2738V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2734V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2757V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2734V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2712V	p.A2871V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8781	-			2871			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8612C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451610	0.43531	7.25E-4	0.001677	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000008	D	0.84502	0.5486	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.82874	-0.0241	10	0.15952	T	0.53	.	16.8983	0.86106	0.0:0.0:1.0:0.0	.	2761;2720;2712;2871;2702;2734;2738;2734	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2734;2738;2734;2702;2871;2712;2720;2761;2757	ENSP00000344848:A2734V;ENSP00000350277:A2738V;ENSP00000346602:A2734V;ENSP00000381756:A2702V;ENSP00000323856:A2871V;ENSP00000347044:A2712V;ENSP00000348702:A2720V;ENSP00000388180:A2761V;ENSP00000434583:A2757V	ENSP00000323856:A2871V	A	-	2	0	PLEC	145067776	1.000000	0.71417	0.943000	0.38184	0.621000	0.37620	7.609000	0.82925	2.404000	0.81709	0.448000	0.29417	GCG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	32	0	0	0	1	0	6	32				
HAPLN4	404037	broad.mit.edu	37	19	19371687	19371687	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19371687C>T	ENST00000291481.7	-	3	482	c.419G>A	c.(418-420)cGc>cAc	p.R140H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	140	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCACTCATAGCGCCCGTAGTC	0.627																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(418-420)cGc>cAc		hyaluronan and proteoglycan link protein 4							85.0	74.0	78.0					19																	19371687		2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371687C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.419G>A	19.37:g.19371687C>T	ENSP00000291481:p.Arg140His					AC138430.4_ENST00000586064.2_RNA	p.R140H	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	482	-			140			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.419G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498383	0.44455	.	.	ENSG00000187664	ENST00000291481	T	0.65732	-0.17	4.66	3.62	0.41486	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.66939	2.045	0.39064	D	0.960579	P	0.41624	0.757	B	0.39419	0.299	T	0.63088	-0.6715	10	0.46703	T	0.11	-28.0045	10.5537	0.45103	0.0:0.9047:0.0:0.0953	.	140	Q86UW8	HPLN4_HUMAN	H	140	ENSP00000291481:R140H	ENSP00000291481:R140H	R	-	2	0	HAPLN4	19232687	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.822000	0.39052	1.185000	0.42971	0.561000	0.74099	CGC		0.627	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		8	52	0	0	0	1	0	8	52				
DACT1	51339	broad.mit.edu	37	14	59112707	59112707	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59112707G>A	ENST00000335867.4	+	4	1390	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DACT1_ENST00000541264.2_Missense_Mutation_p.A175T|DACT1_ENST00000556859.1_Missense_Mutation_p.A175T|DACT1_ENST00000395153.3_Missense_Mutation_p.A419T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	456					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCAAAAACGGCCAAGCCAGC	0.607																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1255-1257)Gcc>Acc		dishevelled-binding antagonist of beta-catenin 1							39.0	46.0	44.0					14																	59112707		2203	4299	6502	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112707G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1366G>A	14.37:g.59112707G>A	ENSP00000337439:p.Ala456Thr					DACT1_ENST00000556859.1_Missense_Mutation_p.A175T|DACT1_ENST00000395151.3_Missense_Mutation_p.A175T|DACT1_ENST00000335867.4_Missense_Mutation_p.A456T|DACT1_ENST00000541264.2_Missense_Mutation_p.A175T	p.A419T	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1402	+			456					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1255G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	5.257	0.232901	0.09969	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.35	3.53	0.40419	.	0.376195	0.29073	N	0.013227	T	0.36331	0.0963	L	0.56769	1.78	0.09310	N	1	P;B	0.36465	0.554;0.196	B;B	0.36719	0.231;0.067	T	0.14811	-1.0459	10	0.18276	T	0.48	-5.2692	10.2421	0.43319	0.0705:0.0:0.7927:0.1368	.	419;456	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	T	175;175;419;456;175	ENSP00000451598:A175T;ENSP00000378581:A175T;ENSP00000378582:A419T;ENSP00000337439:A456T;ENSP00000442850:A175T	ENSP00000337439:A456T	A	+	1	0	DACT1	58182460	0.001000	0.12720	0.065000	0.19835	0.138000	0.21146	0.756000	0.26419	0.656000	0.30886	-0.217000	0.12591	GCC		0.607	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		19	20	0	0	0	1	0	19	20				
MED12L	116931	broad.mit.edu	37	3	151150562	151150562	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151150562G>A	ENST00000474524.1	+	43	6446	c.6408G>A	c.(6406-6408)gtG>gtA	p.V2136V	MED12L_ENST00000273432.4_Silent_p.V1800V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2136						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAAGGAGTGACTCCGTATG	0.398																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6406-6408)gtG>gtA		mediator complex subunit 12-like							111.0	99.0	103.0					3																	151150562		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151150562G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6408G>A	3.37:g.151150562G>A						MED12L_ENST00000273432.4_Silent_p.V1800V	p.V2136V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		43	6446	+			2136					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.6408G>A	CCDS33876.1																																																																																				0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	38	0	0	0	1	0	8	38				
FAM65A	79567	broad.mit.edu	37	16	67579416	67579416	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67579416G>A	ENST00000379312.3	+	18	3302	c.3181G>A	c.(3181-3183)Gtg>Atg	p.V1061M	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.V1071M|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1077M|FAM65A_ENST00000540839.3_Missense_Mutation_p.V1076M|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1057M	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1061						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGAGGCCTACGTGACTGAGAC	0.627																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3226-3228)Gtg>Atg		family with sequence similarity 65, member A							57.0	63.0	61.0					16																	67579416		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67579416G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3181G>A	16.37:g.67579416G>A	ENSP00000368614:p.Val1061Met					FAM65A_ENST00000428437.2_Missense_Mutation_p.V1071M|FAM65A_ENST00000042381.4_Missense_Mutation_p.V1057M|FAM65A_ENST00000379312.3_Missense_Mutation_p.V1061M|FAM65A_ENST00000422602.2_Missense_Mutation_p.V1077M	p.V1076M			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	19	3446	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1061					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3226G>A	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020510|3.020510	0.54576|0.54576	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.255793	.|0.39909	.|N	.|0.001236	T|T	0.64702|0.64702	0.2622|0.2622	L|L	0.29908|0.29908	0.895|0.895	0.28594|0.28594	N|N	0.909508|0.909508	.|P;P;P	.|0.49862	.|0.929;0.929;0.929	.|B;B;B	.|0.41036	.|0.346;0.346;0.346	T|T	0.67019|0.67019	-0.5776|-0.5776	5|10	.|0.72032	.|D	.|0.01	-13.4534|-13.4534	7.1475|7.1475	0.25591|0.25591	0.2062:0.0:0.7938:0.0|0.2062:0.0:0.7938:0.0	.|.	.|1071;1077;1061	.|B4DIM2;E9PBS3;Q6ZS17	.|.;.;FA65A_HUMAN	H|M	1050|1061;1057;1077;1071	.|ENSP00000368614:V1061M;ENSP00000042381:V1057M;ENSP00000400099:V1077M	.|ENSP00000042381:V1057M	R|V	+|+	2|1	0|0	FAM65A|FAM65A	66136917|66136917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.553000|1.553000	0.36255|0.36255	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		13	29	0	0	0	1	0	13	29				
RSBN1	54665	broad.mit.edu	37	1	114354570	114354570	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114354570C>T	ENST00000261441.5	-	1	528	c.465G>A	c.(463-465)ggG>ggA	p.G155G	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	155	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGACAGCGGGCCCGGCGGGTG	0.716																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(463-465)ggG>ggA		round spermatid basic protein 1							12.0	21.0	18.0					1																	114354570		2184	4266	6450	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354570C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.465G>A	1.37:g.114354570C>T							p.G155G	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	528	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	155			Pro-rich.		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.465G>A	CCDS862.1																																																																																				0.716	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	1	0	0	0	1	0	4	1				
ITPRIP	85450	broad.mit.edu	37	10	106075068	106075068	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:106075068C>T	ENST00000337478.1	-	2	913	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ITPRIP_ENST00000278071.2_Missense_Mutation_p.A248T|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.A248T	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	248						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCCCATCGGCGCGGACCACC	0.667																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(742-744)Gcc>Acc		inositol 1,4,5-trisphosphate receptor interacting protein							40.0	41.0	41.0					10																	106075068		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075068C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.742G>A	10.37:g.106075068C>T	ENSP00000337178:p.Ala248Thr					ITPRIP_ENST00000358187.2_Missense_Mutation_p.A248T|ITPRIP_ENST00000337478.1_Missense_Mutation_p.A248T	p.A248T	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1194	-			248					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.742G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.387461	0.01194	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.22945	1.93;1.93;1.93	5.25	2.3	0.28687	.	0.358546	0.30338	N	0.009844	T	0.17577	0.0422	L	0.57536	1.79	0.09310	N	1	B	0.30709	0.291	B	0.19391	0.025	T	0.14392	-1.0474	10	0.19147	T	0.46	-14.9797	4.5105	0.11908	0.1265:0.6114:0.1228:0.1393	.	248	Q8IWB1	IPRI_HUMAN	T	248	ENSP00000337178:A248T;ENSP00000278071:A248T;ENSP00000350915:A248T	ENSP00000278071:A248T	A	-	1	0	ITPRIP	106065058	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	1.025000	0.30090	0.687000	0.31509	-0.518000	0.04402	GCC		0.667	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		25	29	0	0	0	1	0	25	29				
CHD1	1105	broad.mit.edu	37	5	98192225	98192225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:98192225C>T	ENST00000284049.3	-	35	5141	c.4992G>A	c.(4990-4992)tgG>tgA	p.W1664*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1664					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGTCCATTTGCCAGTCTGAGT	0.458																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4990-4992)tgG>tgA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						118.0	110.0	113.0					5																	98192225		2203	4299	6502	SO:0001587	stop_gained	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192225C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4992G>A	5.37:g.98192225C>T	ENSP00000284049:p.Trp1664*						p.W1664*	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5141	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1664					Q17RZ3	Nonsense_Mutation	SNP	ENST00000284049.3	37	c.4992G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	44	10.676241	0.99448	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	.	.	.	5.55	5.55	0.83447	.	0.000000	0.32703	U	0.005755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	.	.	.	X	254;1664	.	ENSP00000284049:W1664X	W	-	3	0	CHD1	98220125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.601000	0.87937	0.655000	0.94253	TGG		0.458	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		4	38	0	0	0	1	0	4	38				
TSTA3	7264	broad.mit.edu	37	8	144695126	144695126	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144695126T>C	ENST00000425753.2	-	11	1023	c.920A>G	c.(919-921)gAg>gGg	p.E307G	TSTA3_ENST00000529064.1_Missense_Mutation_p.E307G	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	307					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCACAGGTCTCCTTCACCGC	0.657																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(919-921)gAg>gGg		tissue specific transplantation antigen P35B	NADH(DB00157)						54.0	38.0	43.0					8																	144695126		2202	4299	6501	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695126T>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.920A>G	8.37:g.144695126T>C	ENSP00000398803:p.Glu307Gly					TSTA3_ENST00000529064.1_Missense_Mutation_p.E307G	p.E307G	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		11	1023	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		307					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.920A>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868867	0.72065	.	.	ENSG00000104522	ENST00000529064;ENST00000425753	.	.	.	5.04	5.04	0.67666	.	0.244551	0.39407	N	0.001374	T	0.67776	0.2929	M	0.85099	2.735	0.58432	D	0.999999	B	0.33135	0.399	B	0.38156	0.266	T	0.68209	-0.5469	9	0.33940	T	0.23	-29.6187	12.1627	0.54113	0.0:0.0:0.0:1.0	.	307	Q13630	FCL_HUMAN	G	307	.	ENSP00000398803:E307G	E	-	2	0	TSTA3	144766269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.027000	0.76463	1.909000	0.55274	0.528000	0.53228	GAG		0.657	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		3	13	0	0	0	1	0	3	13				
TRIO	7204	broad.mit.edu	37	5	14492825	14492825	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14492825C>T	ENST00000344204.4	+	49	7806	c.7782C>T	c.(7780-7782)gcC>gcT	p.A2594A	TRIO_ENST00000537187.1_Silent_p.A2418A|TRIO_ENST00000344135.5_Silent_p.A93A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2594	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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)					TGTTCCGAGCCGCCACTGACC	0.567																																						ENST00000344204.4																			0				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						c.(7780-7782)gcC>gcT		trio Rho guanine nucleotide exchange factor							57.0	48.0	51.0					5																	14492825		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:14492825C>T	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.7782C>T	5.37:g.14492825C>T						TRIO_ENST00000344135.5_Silent_p.A93A|TRIO_ENST00000537187.1_Silent_p.A2418A	p.A2594A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			49	7806	+	Lung NSC(4;0.000742)		2594			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7782C>T	CCDS3883.1																																																																																				0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		14	14	0	0	0	1	0	14	14				
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	G	A	rs199837997	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	MYO5B_ENST00000592688.1_Silent_p.N260N|MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512													G|||	4	0.000798722	0.0	0.0058	5008	,	,		23021	0.0		0.0	False		,,,				2504	0.0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5068-5070)aaC>aaT		myosin VB		G		1,4077		0,1,2038	68.0	65.0	66.0		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG		0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363955G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5070C>T	18.37:g.47363955G>A						MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	p.N1690N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5369	-			1690			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.5070C>T	CCDS42436.1																																																																																				0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			11	28	0	0	0	1	0	11	28				
BCL11A	53335	broad.mit.edu	37	2	60688246	60688246	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:60688246T>C	ENST00000335712.6	-	4	2028	c.1801A>G	c.(1801-1803)Act>Gct	p.T601A	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.T601A|BCL11A_ENST00000537768.1_Missense_Mutation_p.T270A|BCL11A_ENST00000358510.4_Missense_Mutation_p.T567A|BCL11A_ENST00000538214.1_Missense_Mutation_p.T567A|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	601					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCATTAACAGTGCCATCGTCT	0.677			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1801-1803)Act>Gct		B-cell CLL/lymphoma 11A (zinc finger protein)							19.0	23.0	22.0					2																	60688246		2178	4269	6447	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688246T>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1801A>G	2.37:g.60688246T>C	ENSP00000338774:p.Thr601Ala					BCL11A_ENST00000537768.1_Missense_Mutation_p.T270A|BCL11A_ENST00000356842.4_Missense_Mutation_p.T601A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.T567A|BCL11A_ENST00000538214.1_Missense_Mutation_p.T567A	p.T601A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2028	-			601					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1801A>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	T	3.465	-0.109101	0.06924	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08282	3.11;3.4;3.28;3.43;3.34	6.01	3.7	0.42460	.	0.218737	0.39759	N	0.001274	T	0.04363	0.0120	N	0.16478	0.41	0.31505	N	0.664284	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.001;0.002	T	0.24297	-1.0164	10	0.11485	T	0.65	-1.3611	7.5351	0.27706	0.0:0.1748:0.0:0.8252	.	567;270;567;601;601	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	A	601;626;567;270;601;567	ENSP00000349300:T601A;ENSP00000438303:T567A;ENSP00000443712:T270A;ENSP00000338774:T601A;ENSP00000351307:T567A	ENSP00000338774:T601A	T	-	1	0	BCL11A	60541750	0.931000	0.31567	1.000000	0.80357	0.999000	0.98932	0.335000	0.19806	2.307000	0.77673	0.528000	0.53228	ACT		0.677	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		15	18	0	0	0	1	0	15	18				
SDR9C7	121214	broad.mit.edu	37	12	57324035	57324035	+	Missense_Mutation	SNP	C	C	T	rs373500587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57324035C>T	ENST00000293502.1	-	2	678	c.535G>A	c.(535-537)Gtt>Att	p.V179I		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	179					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AAGGCCTCAACGCCAAACTTG	0.547																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(535-537)Gtt>Att		short chain dehydrogenase/reductase family 9C, member 7		C	ILE/VAL	0,4406		0,0,2203	128.0	126.0	126.0		535	4.7	0.5	12		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDR9C7	NM_148897.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	179/314	57324035	1,13005	2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324035C>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.535G>A	12.37:g.57324035C>T	ENSP00000293502:p.Val179Ile						p.V179I	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			2	678	-			179					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.535G>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233444	0.79688	0.0	1.16E-4	ENSG00000170426	ENST00000293502	D	0.88586	-2.4	5.56	4.66	0.58398	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.105273	0.40385	N	0.001110	D	0.92890	0.7738	M	0.71920	2.185	0.48341	D	0.999637	D	0.64830	0.994	P	0.62184	0.899	D	0.92644	0.6127	10	0.45353	T	0.12	.	15.3875	0.74714	0.0:0.8598:0.1402:0.0	.	179	Q8NEX9	DR9C7_HUMAN	I	179	ENSP00000293502:V179I	ENSP00000293502:V179I	V	-	1	0	SDR9C7	55610302	0.844000	0.29557	0.546000	0.28166	0.790000	0.44656	1.753000	0.38359	1.334000	0.45468	0.650000	0.86243	GTT		0.547	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		31	47	0	0	0	1	0	31	47				
SLC1A3	6507	broad.mit.edu	37	5	36608563	36608563	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36608563G>A	ENST00000265113.4	+	2	514	c.38G>A	c.(37-39)gGc>gAc	p.G13D	SLC1A3_ENST00000381918.3_Missense_Mutation_p.G13D|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	13					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGATGGGGGGCAGGATGGAG	0.448																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(37-39)gGc>gAc		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						107.0	108.0	108.0					5																	36608563		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608563G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.38G>A	5.37:g.36608563G>A	ENSP00000265113:p.Gly13Asp					SLC1A3_ENST00000381918.3_Missense_Mutation_p.G13D|SLC1A3_ENST00000506725.1_3'UTR	p.G13D	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	514	+	all_lung(31;0.000245)		13					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.38G>A	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175565	0.57692	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.55413	0.53;1.98;1.98;1.98;0.52	5.69	5.69	0.88448	.	0.310182	0.32175	N	0.006475	T	0.32585	0.0834	N	0.08118	0	0.38218	D	0.940674	B;B	0.20887	0.049;0.04	B;B	0.24155	0.016;0.051	T	0.25606	-1.0127	10	0.44086	T	0.13	-10.8731	10.2676	0.43464	0.1463:0.0:0.8537:0.0	.	13;13	Q4JCQ8;P43003	.;EAA1_HUMAN	D	13	ENSP00000265113:G13D;ENSP00000427203:G13D;ENSP00000424986:G13D;ENSP00000420992:G13D;ENSP00000371343:G13D	ENSP00000265113:G13D	G	+	2	0	SLC1A3	36644320	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.129000	0.57957	2.685000	0.91497	0.655000	0.94253	GGC		0.448	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		4	104	0	0	0	1	0	4	104				
MYO7B	4648	broad.mit.edu	37	2	128322879	128322879	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128322879C>T	ENST00000409816.2	+	3	236	c.204C>T	c.(202-204)gaC>gaT	p.D68D	MYO7B_ENST00000389524.4_Silent_p.D68D|MYO7B_ENST00000428314.1_Silent_p.D68D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	68	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGTGTGGACGACATGATCC	0.592																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(202-204)gaC>gaT		myosin VIIB							67.0	78.0	74.0					2																	128322879		2108	4225	6333	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128322879C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.204C>T	2.37:g.128322879C>T						MYO7B_ENST00000428314.1_Silent_p.D68D|MYO7B_ENST00000409816.2_Silent_p.D68D	p.D68D			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	4	257	+	Colorectal(110;0.1)		68			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.204C>T	CCDS46405.1																																																																																				0.592	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	24	0	0	0	1	0	6	24				
KLHL31	401265	broad.mit.edu	37	6	53520007	53520007	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:53520007C>T	ENST00000407079.1	-	1	63	c.64G>A	c.(64-66)Gta>Ata	p.V22I	KLHL31_ENST00000370905.3_Missense_Mutation_p.V22I			Q9H511	KLH31_HUMAN	kelch-like family member 31	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTATCTTCTACGATTATAGTC	0.408																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(64-66)Gta>Ata		kelch-like family member 31							99.0	90.0	93.0					6																	53520007		2203	4299	6502	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53520007C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.64G>A	6.37:g.53520007C>T	ENSP00000384644:p.Val22Ile					KLHL31_ENST00000407079.1_Missense_Mutation_p.V22I	p.V22I	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	204	-	Lung NSC(77;0.0158)		22					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.64G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339553	0.60963	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.69175	-0.38;-0.38	6.16	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.36672	1.1	0.54753	D	0.999981	D	0.59357	0.985	B	0.39840	0.311	T	0.41251	-0.9519	10	0.25751	T	0.34	.	17.7717	0.88494	0.0:0.8779:0.1221:0.0	.	22	Q9H511	KLH31_HUMAN	I	22	ENSP00000359942:V22I;ENSP00000384644:V22I	ENSP00000359942:V22I	V	-	1	0	KLHL31	53627966	1.000000	0.71417	0.880000	0.34516	0.834000	0.47266	5.784000	0.68990	1.620000	0.50308	-0.156000	0.13503	GTA		0.408	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		24	24	0	0	0	1	0	24	24				
ACTN4	81	broad.mit.edu	37	19	39207768	39207768	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39207768C>T	ENST00000252699.2	+	10	1031	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.R100C	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	319					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGGAGGACCGTGTGCCCCA	0.642																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(955-957)Cgt>Tgt		actinin, alpha 4							67.0	54.0	58.0					19																	39207768		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39207768C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.955C>T	19.37:g.39207768C>T	ENSP00000252699:p.Arg319Cys					ACTN4_ENST00000390009.3_Missense_Mutation_p.R100C|ACTN4_ENST00000424234.2_Intron	p.R319C	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1031	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		319					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.955C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001870	0.93227	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.52295	0.67;0.67	4.32	4.32	0.51571	.	0.148719	0.45867	D	0.000335	T	0.76758	0.4032	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.84449	0.0587	10	0.87932	D	0	.	16.088	0.81070	0.0:1.0:0.0:0.0	.	319;319	E7EV83;O43707	.;ACTN4_HUMAN	C	319;319;100	ENSP00000252699:R319C;ENSP00000439497:R100C	ENSP00000252699:R319C	R	+	1	0	ACTN4	43899608	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.854000	0.69503	2.399000	0.81585	0.561000	0.74099	CGT		0.642	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			5	8	0	0	0	1	0	5	8				
GPR141	353345	broad.mit.edu	37	7	37780645	37780645	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37780645C>T	ENST00000447769.1	+	4	939	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GPR141_ENST00000334425.1_Missense_Mutation_p.S217F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTTACTATCCCACCAGGAG	0.413																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(649-651)tCc>tTc		G protein-coupled receptor 141							184.0	177.0	179.0					7																	37780645		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780645C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.650C>T	7.37:g.37780645C>T	ENSP00000390410:p.Ser217Phe					GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.S217F|EPDR1_ENST00000476620.1_Intron	p.S217F			Q7Z602	GP141_HUMAN			4	939	+			217					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.650C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008932	0.35415	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.38401	1.14;1.14	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.133847	0.52532	D	0.000079	T	0.29716	0.0742	L	0.54323	1.7	0.80722	D	1	P	0.36354	0.549	B	0.36845	0.234	T	0.17623	-1.0363	10	0.62326	D	0.03	-18.5075	3.8371	0.08899	0.172:0.5742:0.1659:0.0878	.	217	Q7Z602	GP141_HUMAN	F	217	ENSP00000390410:S217F;ENSP00000334540:S217F	ENSP00000334540:S217F	S	+	2	0	GPR141	37747170	1.000000	0.71417	0.957000	0.39632	0.904000	0.53231	2.466000	0.45084	1.351000	0.45789	0.655000	0.94253	TCC		0.413	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		45	88	0	0	0	1	0	45	88				
CDS2	8760	broad.mit.edu	37	20	5170424	5170424	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5170424G>A	ENST00000460006.1	+	12	1452	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	CDS2_ENST00000379062.4_Missense_Mutation_p.R262H|CDS2_ENST00000535100.1_Missense_Mutation_p.R152H|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	382					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATCATGGATCGCTTTGACTGC	0.478																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1144-1146)cGc>cAc		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							234.0	200.0	211.0					20																	5170424		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5170424G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1145G>A	20.37:g.5170424G>A	ENSP00000419879:p.Arg382His					CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R262H|CDS2_ENST00000535100.1_Missense_Mutation_p.R152H	p.R382H	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			12	1452	+			382					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1145G>A	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245325	0.95272	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.61274	0.12;0.12;0.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.974;0.993	D	0.89406	0.3699	10	0.87932	D	0	-15.928	18.3704	0.90405	0.0:0.0:1.0:0.0	.	152;262;382	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	H	382;262;152	ENSP00000419879:R382H;ENSP00000368352:R262H;ENSP00000440555:R152H	ENSP00000368352:R262H	R	+	2	0	CDS2	5118424	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.785000	0.99042	2.755000	0.94549	0.555000	0.69702	CGC		0.478	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			39	63	0	0	0	1	0	39	63				
CFLAR	8837	broad.mit.edu	37	2	202025497	202025497	+	Missense_Mutation	SNP	C	C	T	rs552260635		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202025497C>T	ENST00000309955.3	+	9	1651	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Missense_Mutation_p.A379V|CFLAR_ENST00000341582.6_Missense_Mutation_p.A344V|CFLAR_ENST00000340870.5_Missense_Mutation_p.A379V|CFLAR_ENST00000443227.1_Missense_Mutation_p.A283V|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000479953.2_Missense_Mutation_p.A283V|CFLAR_ENST00000423241.2_Missense_Mutation_p.A379V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	379	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GATGGGCCAGCGATGAAGAAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		22537	0.001		0.0	False		,,,				2504	0.0				Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(1135-1137)gCg>gTg		CASP8 and FADD-like apoptosis regulator							46.0	48.0	48.0					2																	202025497		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025497C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1136C>T	2.37:g.202025497C>T	ENSP00000312455:p.Ala379Val					CFLAR_ENST00000341582.6_Missense_Mutation_p.A344V|CFLAR_ENST00000457277.1_Missense_Mutation_p.A379V|CFLAR_ENST00000340870.5_Missense_Mutation_p.A379V|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.A379V|CFLAR_ENST00000479953.2_Missense_Mutation_p.A283V|CFLAR_ENST00000443227.1_Missense_Mutation_p.A283V	p.A379V	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN			9	1651	+			379			Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.1136C>T	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270195	0.40194	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.72	1.86	0.25419	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.876630	0.10107	N	0.715146	T	0.11537	0.0281	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.23442	0.084;0.069;0.069;0.085	B;B;B;B	0.22386	0.039;0.017;0.01;0.028	T	0.35301	-0.9794	10	0.28530	T	0.3	-0.7259	3.3665	0.07206	0.2193:0.5197:0.1248:0.1362	.	283;379;344;379	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	V	379;283;379;265;344;379;379	ENSP00000312455:A379V;ENSP00000413270:A283V;ENSP00000339326:A379V;ENSP00000345807:A344V;ENSP00000399420:A379V;ENSP00000411535:A379V	ENSP00000312455:A379V	A	+	2	0	CFLAR	201733742	0.000000	0.05858	0.002000	0.10522	0.292000	0.27327	-0.100000	0.10990	0.339000	0.23719	0.555000	0.69702	GCG		0.527	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		15	17	0	0	0	1	0	15	17				
GNA14	9630	broad.mit.edu	37	9	80040627	80040627	+	Missense_Mutation	SNP	C	C	T	rs532679687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80040627C>T	ENST00000341700.6	-	6	1241	c.728G>A	c.(727-729)cGc>cAc	p.R243H	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	243					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R243H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTCTTCCATGCGATTCTAAGT	0.413																																						ENST00000341700.6																			1	Substitution - Missense(1)	p.R243H(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(727-729)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 14							86.0	87.0	87.0					9																	80040627		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80040627C>T	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.728G>A	9.37:g.80040627C>T	ENSP00000365807:p.Arg243His					GNA14_ENST00000464095.1_5'UTR	p.R243H	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			6	1241	-			243					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.728G>A	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799842	0.90538	.	.	ENSG00000156049	ENST00000341700	D	0.92249	-3.0	5.69	5.69	0.88448	.	0.050910	0.85682	D	0.000000	D	0.97393	0.9147	H	0.97265	3.97	0.48395	D	0.999643	D	0.71674	0.998	D	0.71184	0.972	D	0.98245	1.0490	10	0.87932	D	0	.	14.0528	0.64749	0.0:0.926:0.0:0.074	.	243	O95837	GNA14_HUMAN	H	243	ENSP00000365807:R243H	ENSP00000365807:R243H	R	-	2	0	GNA14	79230447	0.996000	0.38824	1.000000	0.80357	0.943000	0.58893	3.350000	0.52224	2.684000	0.91462	0.650000	0.86243	CGC		0.413	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			21	36	0	0	0	1	0	21	36				
HDLBP	3069	broad.mit.edu	37	2	242169568	242169568	+	Splice_Site	SNP	G	G	A	rs369738368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242169568G>A	ENST00000391975.1	-	26	3818	c.3591C>T	c.(3589-3591)taC>taT	p.Y1197Y	HDLBP_ENST00000391976.2_Splice_Site_p.Y1197Y|HDLBP_ENST00000310931.4_Splice_Site_p.Y1197Y|HDLBP_ENST00000427183.2_Splice_Site_p.Y1164Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1197	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.Y1197*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGAGACTCACGTATTCCTCCT	0.627																																						ENST00000391975.1																			1	Substitution - Nonsense(1)	p.Y1197*(1)	lung(1)	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e26+1		high density lipoprotein binding protein		G	,	0,4406		0,0,2203	72.0	69.0	70.0		3591,3591	-5.3	0.7	2		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	HDLBP	NM_005336.4,NM_203346.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1197/1269,1197/1269	242169568	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169568G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3591+1C>T	2.37:g.242169568G>A						HDLBP_ENST00000391976.2_Splice_Site_p.Y1197_splice|HDLBP_ENST00000310931.4_Splice_Site_p.Y1197_splice|HDLBP_ENST00000427183.2_Splice_Site_p.Y1164_splice	p.Y1197_splice	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	26	3818	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1197			KH 14.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Splice_Site	SNP	ENST00000391975.1	37	c.3591_splice	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	6.218	0.408339	0.11754	0.0	1.16E-4	ENSG00000115677	ENST00000373292	.	.	.	5.48	-5.27	0.02763	.	.	.	.	.	T	0.67163	0.2864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67023	-0.5775	4	.	.	.	-27.3736	17.9233	0.88975	0.8161:0.0:0.1839:0.0	.	.	.	.	S	902	.	.	P	-	1	0	HDLBP	241818241	0.007000	0.16637	0.666000	0.29783	0.734000	0.41952	-0.970000	0.03810	-1.729000	0.01364	0.591000	0.81541	CCT		0.627	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	Silent	23	26	0	0	0	1	0	23	26				
SLC9C1	285335	broad.mit.edu	37	3	111996574	111996574	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:111996574G>A	ENST00000305815.5	-	5	704	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151L|SLC9C1_ENST00000467397.1_5'Flank	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	151					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGTTAGCATGGGATCTGAACT	0.318																																						ENST00000305815.5																			0											c.(451-453)cCc>cTc		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							80.0	86.0	84.0					3																	111996574		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996574G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.452C>T	3.37:g.111996574G>A	ENSP00000306627:p.Pro151Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151L	p.P151L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			5	704	-			151					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.452C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371105	0.61624	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.19532	2.14;2.14;2.14	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000037	T	0.43344	0.1243	L	0.58101	1.795	0.48696	D	0.999692	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.27839	-1.0062	10	0.87932	D	0	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	151;151	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	151;151;78	ENSP00000306627:P151L;ENSP00000420688:P151L;ENSP00000417274:P78L	ENSP00000306627:P151L	P	-	2	0	SLC9A10	113479264	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	4.760000	0.62235	2.549000	0.85964	0.655000	0.94253	CCC		0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		30	58	0	0	0	1	0	30	58				
PHF2	5253	broad.mit.edu	37	9	96439899	96439899	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96439899G>A	ENST00000359246.4	+	22	3599	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	PHF2_ENST00000375376.4_Missense_Mutation_p.A309T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1078					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CATGGCGACCGCCAAGCAGAG	0.537																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3232-3234)Gcc>Acc		PHD finger protein 2							115.0	133.0	127.0					9																	96439899		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439899G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.3232G>A	9.37:g.96439899G>A	ENSP00000352185:p.Ala1078Thr					PHF2_ENST00000375376.4_Missense_Mutation_p.A309T	p.A1078T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	22	3599	+		Myeloproliferative disorder(762;0.0255)	1078					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.3232G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730297	0.48939	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60299	0.2;0.58	5.25	4.34	0.51931	.	0.053491	0.85682	D	0.000000	T	0.65037	0.2653	L	0.46157	1.445	0.58432	D	0.999998	D	0.71674	0.998	P	0.56398	0.797	T	0.69281	-0.5186	10	0.87932	D	0	-27.4364	15.2665	0.73666	0.0:0.0:0.8586:0.1414	.	1078	O75151	PHF2_HUMAN	T	1078;309	ENSP00000352185:A1078T;ENSP00000364525:A309T	ENSP00000352185:A1078T	A	+	1	0	PHF2	95479720	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.958000	0.93099	1.188000	0.43014	-0.310000	0.09108	GCC		0.537	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		11	69	0	0	0	1	0	11	69				
TUBGCP2	10844	broad.mit.edu	37	10	135106570	135106570	+	Missense_Mutation	SNP	G	G	A	rs34832477	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135106570G>A	ENST00000252936.3	-	6	1036	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R361C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.R333C|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R203C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	333					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCCATGGTGCGCATGGCTGGC	0.637													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17965	0.0		0.0	False		,,,				2504	0.0					ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(997-999)Cgc>Tgc		tubulin, gamma complex associated protein 2		G	CYS/ARG	19,4387	26.2+/-53.5	0,19,2184	59.0	57.0	57.0		997	4.8	1.0	10	dbSNP_126	57	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TUBGCP2	NM_006659.2	180	0,21,6482	AA,AG,GG		0.0233,0.4312,0.1615	probably-damaging	333/903	135106570	21,12985	2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106570G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.997C>T	10.37:g.135106570G>A	ENSP00000252936:p.Arg333Cys					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.R333C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R361C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R203C	p.R333C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	7	1353	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	333					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.997C>T	CCDS7676.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.27	3.587245	0.66105	0.004312	2.33E-4	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.94;0.964;0.964	T	0.00599	-1.1651	10	0.40728	T	0.16	-31.0033	10.9485	0.47315	0.0:0.0:0.7068:0.2932	rs34832477	361;361;333	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	333;203;333;361	ENSP00000252936:R333C;ENSP00000395666:R203C;ENSP00000357551:R333C;ENSP00000446093:R361C	ENSP00000252936:R333C	R	-	1	0	TUBGCP2	134956560	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.595000	0.46197	2.375000	0.81037	0.561000	0.74099	CGC		0.637	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			11	17	0	0	0	1	0	11	17				
TENM2	57451	broad.mit.edu	37	5	167642259	167642259	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167642259A>G	ENST00000518659.1	+	21	4099	c.4060A>G	c.(4060-4062)Acc>Gcc	p.T1354A	TENM2_ENST00000520394.1_Missense_Mutation_p.T1115A|TENM2_ENST00000545108.1_Missense_Mutation_p.T1353A|TENM2_ENST00000519204.1_Missense_Mutation_p.T1233A|TENM2_ENST00000403607.2_Missense_Mutation_p.T1178A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1354					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CATAGATGCAACCCTGATGAG	0.542																																						ENST00000519204.1																			0											c.(3697-3699)Acc>Gcc		teneurin transmembrane protein 2							85.0	91.0	89.0					5																	167642259		1967	4163	6130	SO:0001583	missense	57451							g.chr5:167642259A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4060A>G	5.37:g.167642259A>G	ENSP00000429430:p.Thr1354Ala					TENM2_ENST00000403607.2_Missense_Mutation_p.T1178A|TENM2_ENST00000545108.1_Missense_Mutation_p.T1353A|TENM2_ENST00000520394.1_Missense_Mutation_p.T1115A|TENM2_ENST00000518659.1_Missense_Mutation_p.T1354A	p.T1233A							20	3815	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3697A>G		.	.	.	.	.	.	.	.	.	.	A	11.67	1.707252	0.30322	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	4.88	4.88	0.63580	Six-bladed beta-propeller, TolB-like (1);	0.046508	0.85682	D	0.000000	D	0.82416	0.5032	L	0.33668	1.02	0.42457	D	0.992776	B;B;P	0.34639	0.112;0.068;0.461	B;B;B	0.31946	0.138;0.066;0.107	T	0.80721	-0.1256	10	0.23891	T	0.37	.	14.8194	0.70059	1.0:0.0:0.0:0.0	.	1353;1354;1115	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	A	1354;1353;1233;1115;1178	ENSP00000429430:T1354A;ENSP00000438635:T1353A;ENSP00000428964:T1233A;ENSP00000427874:T1115A;ENSP00000384905:T1178A	ENSP00000384905:T1178A	T	+	1	0	ODZ2	167574837	1.000000	0.71417	0.883000	0.34634	0.432000	0.31715	7.277000	0.78572	1.956000	0.56807	0.533000	0.62120	ACC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		24	42	0	0	0	1	0	24	42				
A2M	2	broad.mit.edu	37	12	9229987	9229987	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9229987G>A	ENST00000318602.7	-	27	3613	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1102					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGATATAGGCGGAGAGGGTCA	0.453																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3304-3306)tcC>tcT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						98.0	101.0	100.0					12																	9229987		2193	4300	6493	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229987G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3306C>T	12.37:g.9229987G>A							p.S1102S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			27	3613	-			1102					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3306C>T	CCDS44827.1																																																																																				0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		10	12	0	0	0	1	0	10	12				
MTM1	4534	broad.mit.edu	37	X	149787588	149787588	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:149787588C>T	ENST00000370396.2	+	6	474	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MTM1_ENST00000542741.1_Silent_p.Y45Y|MTM1_ENST00000543350.1_Silent_p.Y25Y|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.Y103Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	140					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCACGAGATACGCGTTTCCCC	0.512																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(418-420)taC>taT		myotubularin 1							214.0	144.0	168.0					X																	149787588		2203	4300	6503	SO:0001819	synonymous_variant	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149787588C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.420C>T	X.37:g.149787588C>T						MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.Y103Y|MTM1_ENST00000543350.1_Silent_p.Y25Y|MTM1_ENST00000542741.1_Silent_p.Y45Y	p.Y140Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			6	474	+	Acute lymphoblastic leukemia(192;6.56e-05)		140					A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.420C>T	CCDS14694.1																																																																																				0.512	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		19	5	0	0	0	1	0	19	5				
TBC1D2	55357	broad.mit.edu	37	9	101006409	101006409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101006409G>A	ENST00000375064.1	-	3	552	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Nonsense_Mutation_p.Q172*	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	172					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCCTCTTCTTGCCCTGGGAAC	0.582																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(514-516)Caa>Taa		TBC1 domain family, member 2							32.0	29.0	30.0					9																	101006409		2203	4300	6503	SO:0001587	stop_gained	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101006409G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.514C>T	9.37:g.101006409G>A	ENSP00000364205:p.Gln172*					TBC1D2_ENST00000375064.1_Nonsense_Mutation_p.Q172*|TBC1D2_ENST00000342112.5_5'UTR	p.Q172*	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	3	605	-		Myeloproliferative disorder(762;0.0255)	172					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Nonsense_Mutation	SNP	ENST00000375064.1	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.190949	0.94923	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	.	.	.	4.16	4.16	0.48862	.	0.557105	0.15806	N	0.243706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.8547	0.52431	0.0:0.0:1.0:0.0	.	.	.	.	X	172	.	ENSP00000364205:Q172X	Q	-	1	0	TBC1D2	100046230	0.998000	0.40836	1.000000	0.80357	0.894000	0.52154	2.003000	0.40844	2.163000	0.67991	0.655000	0.94253	CAA		0.582	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		12	11	0	0	0	1	0	12	11				
ARMC9	80210	broad.mit.edu	37	2	232079556	232079556	+	Missense_Mutation	SNP	G	G	A	rs144388331		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232079556G>A	ENST00000349938.4	+	4	384	c.190G>A	c.(190-192)Gct>Act	p.A64T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	64						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGATCTTGTCGCTGCATTTGA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21152	0.0		0.0	False		,,,				2504	0.0					ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(190-192)Gct>Act		armadillo repeat containing 9		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	129.0	115.0	120.0		190	-2.1	0.0	2	dbSNP_134	120	0,8600		0,0,4300	no	missense	ARMC9	NM_025139.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	64/666	232079556	2,13004	2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232079556G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.190G>A	2.37:g.232079556G>A	ENSP00000258417:p.Ala64Thr					ARMC9_ENST00000483477.1_3'UTR	p.A64T	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	384	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	64					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.190G>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	4.859	0.159654	0.09287	4.54E-4	0.0	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.41400	2.31;1.0	5.81	-2.13	0.07144	.	0.758384	0.12708	N	0.445739	T	0.10165	0.0249	N	0.00368	-1.59	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.39440	-0.9614	10	0.10636	T	0.68	-1.1681	11.2062	0.48771	0.7504:0.0:0.2496:0.0	.	64	Q7Z3E5	ARMC9_HUMAN	T	64	ENSP00000258417:A64T;ENSP00000387391:A64T	ENSP00000258417:A64T	A	+	1	0	ARMC9	231787800	0.119000	0.22226	0.014000	0.15608	0.652000	0.38707	1.083000	0.30815	-0.222000	0.09958	-1.154000	0.01816	GCT		0.478	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		12	36	0	0	0	1	0	12	36				
PCDH15	65217	broad.mit.edu	37	10	55569172	55569172	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55569172G>A	ENST00000395445.1	-	36	5032	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	PCDH15_ENST00000395442.1_Silent_p.F411F|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Silent_p.F742F|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.F480F	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAATCATGGGGAATATTCTGG	0.423										HNSCC(58;0.16)																												ENST00000395445.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4636-4638)ttC>ttT		protocadherin-related 15							170.0	156.0	161.0					10																	55569172		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569172G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4638C>T	10.37:g.55569172G>A		HNSCC(58;0.16)				PCDH15_ENST00000395440.1_Silent_p.F480F|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.F411F|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Silent_p.F742F|PCDH15_ENST00000395438.1_3'UTR	p.F1546F	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN			36	5032	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.4638C>T																																																																																					0.423	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		20	29	0	0	0	1	0	20	29				
GDI1	2664	broad.mit.edu	37	X	153669519	153669519	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153669519G>A	ENST00000447750.2	+	7	1131	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	266					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCAAGGTGGTGGGCGTGAA	0.557																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(796-798)Gtg>Atg		GDP dissociation inhibitor 1							159.0	129.0	139.0					X																	153669519		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153669519G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.796G>A	X.37:g.153669519G>A	ENSP00000394071:p.Val266Met						p.V266M	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			7	1131	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		266					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.796G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765141	0.69878	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61274	0.12	5.36	5.36	0.76844	.	0.056941	0.64402	D	0.000002	T	0.66848	0.2831	M	0.76170	2.325	0.58432	D	0.999999	B	0.26483	0.15	B	0.40009	0.316	T	0.67201	-0.5730	10	0.48119	T	0.1	-18.7252	15.4234	0.75031	0.0:0.0:1.0:0.0	.	266	P31150	GDIA_HUMAN	M	266;250	ENSP00000394071:V266M	ENSP00000358756:V250M	V	+	1	0	GDI1	153322713	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.830000	0.62745	2.235000	0.73313	0.544000	0.68410	GTG		0.557	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		36	14	0	0	0	1	0	36	14				
FXR2	9513	broad.mit.edu	37	17	7496151	7496151	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7496151C>T	ENST00000250113.7	-	14	1924	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	530						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTGAATCAACCGGGGGCTCTG	0.617																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1588-1590)ccG>ccA		fragile X mental retardation, autosomal homolog 2							31.0	32.0	31.0					17																	7496151		1831	4087	5918	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496151C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1590G>A	17.37:g.7496151C>T							p.P530P	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1924	-			530					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1590G>A	CCDS45604.1																																																																																				0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	22	0	0	0	1	0	10	22				
CLEC18A	348174	broad.mit.edu	37	16	69996933	69996933	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69996933G>T	ENST00000288040.6	+	11	1453	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	CLEC18A_ENST00000449317.2_Missense_Mutation_p.Q431H|CLEC18A_ENST00000568461.1_Missense_Mutation_p.Q422H|CLEC18A_ENST00000393701.2_Missense_Mutation_p.Q422H	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	422	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GGAACGACCAGCGCTGCAAAA	0.597																																						ENST00000288040.6																			0				NS(1)|endometrium(2)|lung(1)|skin(1)	5						c.(1264-1266)caG>caT		C-type lectin domain family 18, member A							47.0	31.0	36.0					16																	69996933		2178	3956	6134	SO:0001583	missense	348174					extracellular region	sugar binding	g.chr16:69996933G>T	AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.1266G>T	16.37:g.69996933G>T	ENSP00000288040:p.Gln422His					CLEC18A_ENST00000568461.1_Missense_Mutation_p.Q422H|CLEC18A_ENST00000393701.2_Missense_Mutation_p.Q422H|CLEC18A_ENST00000449317.2_Missense_Mutation_p.Q431H	p.Q422H	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN			11	1453	+			422			C-type lectin.		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Missense_Mutation	SNP	ENST00000288040.6	37	c.1266G>T	CCDS10886.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026947	0.35797	.	.	ENSG00000157322	ENST00000393701;ENST00000449317;ENST00000288040	T;T;T	0.18502	2.21;2.21;2.21	1.77	-1.92	0.07618	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.078974	0.51477	D	0.000081	T	0.22627	0.0546	L	0.41492	1.28	0.31734	N	0.636695	D	0.67145	0.996	D	0.81914	0.995	T	0.15435	-1.0437	9	.	.	.	.	5.2171	0.15348	0.5929:0.0:0.4071:0.0	.	422	A5D8T8	CL18A_HUMAN	H	422;431;422	ENSP00000377304:Q422H;ENSP00000413990:Q431H;ENSP00000288040:Q422H	.	Q	+	3	2	CLEC18A	68554434	0.075000	0.21258	0.992000	0.48379	0.664000	0.39144	-0.868000	0.04236	-0.488000	0.06726	0.175000	0.17021	CAG		0.597	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	NM_182619		4	48	1	0	7.48243e-07	1	7.8103e-07	4	48				
TMEM194A	23306	broad.mit.edu	37	12	57454725	57454725	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57454725C>A	ENST00000300128.4	-	8	1007	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TMEM194A_ENST00000379391.3_Missense_Mutation_p.K255N	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	328						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTACACACCTTTCTGTGCT	0.443																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(982-984)aaG>aaT		transmembrane protein 194A							82.0	82.0	82.0					12																	57454725		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57454725C>A	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.984G>T	12.37:g.57454725C>A	ENSP00000300128:p.Lys328Asn					TMEM194A_ENST00000379391.3_Missense_Mutation_p.K255N	p.K328N	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			8	1007	-			328					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.984G>T	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381204	0.42207	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.47177	0.85;0.85	6.07	4.16	0.48862	Domain of unknown function DUF2215 (1);	0.425542	0.26955	N	0.021648	T	0.45617	0.1351	L	0.47716	1.5	0.58432	D	0.999999	B;P	0.49783	0.199;0.928	B;P	0.49922	0.186;0.626	T	0.41360	-0.9513	10	0.46703	T	0.11	-7.1051	6.0587	0.19826	0.0:0.6832:0.1553:0.1616	.	328;255	O14524;O14524-2	T194A_HUMAN;.	N	255;328	ENSP00000368701:K255N;ENSP00000300128:K328N	ENSP00000300128:K328N	K	-	3	2	TMEM194A	55740992	0.974000	0.33945	0.995000	0.50966	0.883000	0.51084	1.815000	0.38981	1.578000	0.49821	0.650000	0.86243	AAG		0.443	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		21	27	1	0	5.35356e-11	1	5.74024e-11	21	27				
IL17RA	23765	broad.mit.edu	37	22	17584433	17584433	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17584433G>A	ENST00000319363.6	+	8	945	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	271					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTCACTCTACGCAACCTTAAA	0.557																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(811-813)cGc>cAc		interleukin 17 receptor A							117.0	70.0	86.0					22																	17584433		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17584433G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.812G>A	22.37:g.17584433G>A	ENSP00000320936:p.Arg271His						p.R271H	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	8	945	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	271					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.812G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896890	0.33535	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.05855	3.38	5.44	-10.5	0.00291	.	1.832950	0.02230	N	0.064807	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	10	0.42905	T	0.14	0.206	12.3624	0.55211	0.1459:0.5172:0.337:0.0	.	271;271	D3YTB4;Q96F46	.;I17RA_HUMAN	H	271	ENSP00000320936:R271H	ENSP00000320936:R271H	R	+	2	0	IL17RA	15964433	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.659000	0.01975	-1.882000	0.01122	-1.300000	0.01332	CGC		0.557	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		11	5	0	0	0	1	0	11	5				
SSH3	54961	broad.mit.edu	37	11	67072293	67072293	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67072293G>A	ENST00000308127.4	+	3	332	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	SSH3_ENST00000308298.7_Missense_Mutation_p.G52R|SSH3_ENST00000376757.5_Missense_Mutation_p.G52R|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	52					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGGATGGAGGGGACAATGA	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(154-156)Ggg>Agg		slingshot protein phosphatase 3							50.0	49.0	49.0					11																	67072293		2199	4295	6494	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67072293G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.154G>A	11.37:g.67072293G>A	ENSP00000312081:p.Gly52Arg					SSH3_ENST00000376757.5_Missense_Mutation_p.G52R|SSH3_ENST00000308298.7_Missense_Mutation_p.G52R|SSH3_ENST00000532181.1_3'UTR	p.G52R	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	332	+			52					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.154G>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397241	0.62177	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32515	3.74;1.45;3.83	5.18	3.31	0.37934	.	1.217680	0.06115	N	0.667959	T	0.23094	0.0558	N	0.24115	0.695	0.32237	N	0.573222	P	0.34800	0.469	B	0.33042	0.157	T	0.24512	-1.0158	10	0.52906	T	0.07	-13.5242	8.0918	0.30805	0.1733:0.0:0.8267:0.0	.	52	Q8TE77	SSH3_HUMAN	R	52	ENSP00000312081:G52R;ENSP00000310055:G52R;ENSP00000365948:G52R	ENSP00000312081:G52R	G	+	1	0	SSH3	66828869	1.000000	0.71417	0.081000	0.20488	0.458000	0.32498	4.009000	0.57110	0.593000	0.29745	0.561000	0.74099	GGG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	14	0	0	0	1	0	3	14				
POU5F1B	5462	broad.mit.edu	37	8	128428616	128428616	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:128428616C>A	ENST00000465342.2	+	2	1662	c.505C>A	c.(505-507)Ctc>Atc	p.L169I	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.L169I|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	169	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.			L -> F (in Ref. 5; ADW77415/ADW77420/ ADW77421). {ECO:0000305}.|L -> P (in Ref. 5; ADE48561). {ECO:0000305}.|L -> R (in Ref. 5; ADE48583). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CGATGTGGGGCTCATCCTGGG	0.527																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(505-507)Ctc>Atc		POU class 5 homeobox 1B							82.0	86.0	85.0					8																	128428616		692	1591	2283	SO:0001583	missense	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428616C>A	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.505C>A	8.37:g.128428616C>A	ENSP00000419298:p.Leu169Ile					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.L169I	p.L169I			Q06416	P5F1B_HUMAN			2	1662	+			169			POU-specific.		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	c.505C>A	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592185	0.46214	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	D;D	0.83837	-1.77;-1.77	1.14	0.2	0.15181	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.38005	N	0.001856	T	0.70649	0.3248	N	0.20483	0.58	0.47308	D	0.999382	B	0.18610	0.029	B	0.36030	0.216	T	0.55623	-0.8112	10	0.37606	T	0.19	.	5.4549	0.16584	0.0:0.7834:0.0:0.2166	.	169	Q06416	P5F1B_HUMAN	I	169	ENSP00000419298:L169I;ENSP00000375557:L169I	ENSP00000375557:L169I	L	+	1	0	POU5F1B	128497798	0.995000	0.38212	0.998000	0.56505	0.693000	0.40251	0.496000	0.22499	0.077000	0.16863	0.134000	0.15878	CTC		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		4	10	1	0	0.00909568	1	0.00918626	4	10				
ERBB2IP	55914	broad.mit.edu	37	5	65372215	65372215	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65372215C>T	ENST00000284037.5	+	24	4424	c.4035C>T	c.(4033-4035)aaC>aaT	p.N1345N	ERBB2IP_ENST00000380943.2_Silent_p.N1304N|ERBB2IP_ENST00000416865.2_Silent_p.N543N|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000506030.1_Silent_p.N1352N|ERBB2IP_ENST00000508515.1_Silent_p.N1235N|ERBB2IP_ENST00000380938.2_Silent_p.N1304N|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000380935.1_Silent_p.N1235N|ERBB2IP_ENST00000380939.2_Silent_p.N1293N|ERBB2IP_ENST00000511297.1_Silent_p.N1300N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1345	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTAGAGGAAACCCATTCAGAC	0.343																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(4033-4035)aaC>aaT		erbb2 interacting protein							144.0	144.0	144.0					5																	65372215		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65372215C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.4035C>T	5.37:g.65372215C>T						ERBB2IP_ENST00000380935.1_Silent_p.N1235N|ERBB2IP_ENST00000380939.2_Silent_p.N1293N|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000416865.2_Silent_p.N543N|ERBB2IP_ENST00000511297.1_Silent_p.N1300N|ERBB2IP_ENST00000380938.2_Silent_p.N1304N|ERBB2IP_ENST00000380943.2_Silent_p.N1304N|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000506030.1_Silent_p.N1352N|ERBB2IP_ENST00000508515.1_Silent_p.N1235N	p.N1345N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	24	4424	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1345			PDZ.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.4035C>T	CCDS58953.1																																																																																				0.343	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		21	36	0	0	0	1	0	21	36				
KRTAP10-1	386677	broad.mit.edu	37	21	45960029	45960029	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45960029G>A	ENST00000400375.1	-	1	49	c.5C>T	c.(4-6)gCc>gTc	p.A2V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	2				A -> T (in Ref. 3; AAI20960). {ECO:0000305}.		keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGTGGACGCGGCCATGCTGGG	0.637																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(4-6)gCc>gTc		keratin associated protein 10-1							87.0	93.0	91.0					21																	45960029		2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45960029G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.5C>T	21.37:g.45960029G>A	ENSP00000383226:p.Ala2Val					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.A2V	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	49	-			2	A -> T (in Ref. 3; AAI20960).				Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.5C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	8.543	0.873622	0.17322	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.52526	0.66	3.71	3.71	0.42584	.	.	.	.	.	T	0.65801	0.2726	M	0.71920	2.185	0.18873	N	0.999987	D	0.76494	0.999	D	0.75484	0.986	T	0.54977	-0.8212	9	0.87932	D	0	.	11.3191	0.49410	0.0:0.0:1.0:0.0	.	2	P60331	KR101_HUMAN	V	2	ENSP00000383226:A2V	ENSP00000383226:A2V	A	-	2	0	KRTAP10-1	44784457	0.873000	0.30073	0.091000	0.20842	0.060000	0.15804	2.352000	0.44080	1.784000	0.52394	0.313000	0.20887	GCC		0.637	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			31	10	0	0	0	1	0	31	10				
APLNR	187	broad.mit.edu	37	11	57003781	57003781	+	Missense_Mutation	SNP	C	C	T	rs147193169	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57003781C>T	ENST00000606794.1	-	1	894	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	233					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R233L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTTCCTTGCGGAAGTGGCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22723	0.0		0.0	False		,,,				2504	0.0					ENST00000606794.1																			1	Substitution - Missense(1)	p.R233L(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(697-699)cGc>cAc		apelin receptor		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	99.0	84.0	89.0		698	5.6	1.0	11	dbSNP_134	89	0,8592		0,0,4296	no	missense	APLNR	NM_005161.4	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	233/381	57003781	1,12993	2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003781C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.698G>A	11.37:g.57003781C>T	ENSP00000475344:p.Arg233His						p.R233H	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	894	-			233						Missense_Mutation	SNP	ENST00000606794.1	37	c.698G>A	CCDS7950.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	18.74	3.687516	0.68157	2.27E-4	0.0	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.42513	0.97	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.190122	0.46442	D	0.000297	T	0.53012	0.1770	L	0.41027	1.25	0.38963	D	0.95859	D	0.89917	1.0	D	0.71656	0.974	T	0.52741	-0.8535	10	0.44086	T	0.13	-19.0514	12.555	0.56248	0.0:0.9232:0.0:0.0768	.	233	P35414	APJ_HUMAN	H	233;114;152	ENSP00000257254:R233H	ENSP00000257254:R233H	R	-	2	0	APLNR	56760357	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.887000	0.28254	2.627000	0.88993	0.650000	0.86243	CGC		0.622	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		17	19	0	0	0	1	0	17	19				
TRIP11	9321	broad.mit.edu	37	14	92472075	92472075	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92472075C>T	ENST00000267622.4	-	11	2618	c.2245G>A	c.(2245-2247)Gca>Aca	p.A749T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	749					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAATTACGTGCATTTGACAGT	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2245-2247)Gca>Aca		thyroid hormone receptor interactor 11							212.0	214.0	213.0					14																	92472075		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472075C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2245G>A	14.37:g.92472075C>T	ENSP00000267622:p.Ala749Thr						p.A749T	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2618	-			749					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2245G>A	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.375|9.375	1.071414|1.071414	0.20147|0.20147	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08370|.	3.1|.	5.96|5.96	4.13|4.13	0.48395|0.48395	.|.	0.105029|.	0.64402|.	N|.	0.000005|.	T|T	0.69993|0.69993	0.3173|0.3173	M|M	0.68593|0.68593	2.085|2.085	0.49051|0.49051	D|D	0.999745|0.999745	B;B|.	0.30114|.	0.232;0.269|.	B;B|.	0.29176|.	0.099;0.088|.	T|T	0.68273|0.68273	-0.5452|-0.5452	10|5	0.16896|.	T|.	0.51|.	.|.	12.9466|12.9466	0.58375|0.58375	0.0:0.8675:0.0:0.1325|0.0:0.8675:0.0:0.1325	.|.	485;749|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	T|Y	749;485|464	ENSP00000267622:A749T|.	ENSP00000267622:A749T|.	A|C	-|-	1|2	0|0	TRIP11|TRIP11	91541828|91541828	0.993000|0.993000	0.37304|0.37304	0.006000|0.006000	0.13384|0.13384	0.002000|0.002000	0.02628|0.02628	3.114000|3.114000	0.50383|0.50383	0.840000|0.840000	0.34995|0.34995	0.585000|0.585000	0.79938|0.79938	GCA|TGC		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			56	90	0	0	0	1	0	56	90				
SLFN13	146857	broad.mit.edu	37	17	33769058	33769058	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33769058C>A	ENST00000285013.6	-	5	1721	c.1446G>T	c.(1444-1446)gaG>gaT	p.E482D	SLFN13_ENST00000534689.1_Missense_Mutation_p.E164D|SLFN13_ENST00000360502.2_Missense_Mutation_p.E164D|SLFN13_ENST00000542635.1_Missense_Mutation_p.E482D|SLFN13_ENST00000526861.1_Missense_Mutation_p.E482D|SLFN13_ENST00000533791.1_Missense_Mutation_p.E482D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	482						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGTCCTGGCCCTCTGCATCCT	0.552																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1444-1446)gaG>gaT		schlafen family member 13																																				SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33769058C>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1446G>T	17.37:g.33769058C>A	ENSP00000285013:p.Glu482Asp					SLFN13_ENST00000533791.1_Missense_Mutation_p.E482D|SLFN13_ENST00000534689.1_Missense_Mutation_p.E164D|SLFN13_ENST00000526861.1_Missense_Mutation_p.E482D|SLFN13_ENST00000542635.1_Missense_Mutation_p.E482D|SLFN13_ENST00000360502.2_Missense_Mutation_p.E164D	p.E482D	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1721	-			482					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1446G>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	2.489	-0.317978	0.05386	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03635	4.45;3.86;4.45;4.45;3.86	3.05	-6.09	0.02145	.	2.039240	0.02537	N	0.094252	T	0.02455	0.0075	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.001	T	0.43621	-0.9380	10	0.14656	T	0.56	.	1.6437	0.02757	0.3338:0.2355:0.3158:0.1149	.	164;482	Q68D06-2;Q68D06	.;SLN13_HUMAN	D	482;164;482;482;164	ENSP00000285013:E482D;ENSP00000353692:E164D;ENSP00000434439:E482D;ENSP00000444016:E482D;ENSP00000435442:E164D	ENSP00000285013:E482D	E	-	3	2	SLFN13	30793171	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-4.616000	0.00208	-1.279000	0.02405	0.194000	0.17425	GAG		0.552	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		24	51	1	0	6.12954e-19	1	6.77144e-19	24	51				
MERTK	10461	broad.mit.edu	37	2	112779082	112779082	+	Missense_Mutation	SNP	G	G	A	rs370526555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112779082G>A	ENST00000295408.4	+	17	2530	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	MERTK_ENST00000421804.2_Missense_Mutation_p.R758H|MERTK_ENST00000409780.1_Missense_Mutation_p.R582H			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CGCCAAGGCCGCATTGCTAAG	0.463																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2272-2274)cGc>cAc		c-mer proto-oncogene tyrosine kinase							137.0	133.0	134.0					2																	112779082		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779082G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2273G>A	2.37:g.112779082G>A	ENSP00000295408:p.Arg758His					MERTK_ENST00000421804.2_Missense_Mutation_p.R758H|MERTK_ENST00000409780.1_Missense_Mutation_p.R582H	p.R758H			Q12866	MERTK_HUMAN			17	2530	+			758			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2273G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880574	0.91740	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34088	U	0.004274	D	0.86632	0.5979	L	0.28344	0.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87810	0.2631	10	0.62326	D	0.03	-24.4355	19.012	0.92877	0.0:0.0:1.0:0.0	.	758	Q12866	MERTK_HUMAN	H	758;758;394;582;82	ENSP00000295408:R758H;ENSP00000389152:R758H;ENSP00000387277:R582H;ENSP00000412660:R82H	ENSP00000295408:R758H	R	+	2	0	MERTK	112495553	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.860000	0.86993	2.724000	0.93272	0.563000	0.77884	CGC		0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			32	44	0	0	0	1	0	32	44				
CLEC16A	23274	broad.mit.edu	37	16	11217764	11217764	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11217764C>T	ENST00000409790.1	+	21	2664	c.2434C>T	c.(2434-2436)Cgc>Tgc	p.R812C	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R794C	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCAAAGGCCGCATCCAGGC	0.602																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2434-2436)Cgc>Tgc		C-type lectin domain family 16, member A							34.0	37.0	36.0					16																	11217764		2093	4224	6317	SO:0001583	missense	23274							g.chr16:11217764C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2434C>T	16.37:g.11217764C>T	ENSP00000387122:p.Arg812Cys					CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R794C	p.R812C	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			21	2664	+			812						Missense_Mutation	SNP	ENST00000409790.1	37	c.2434C>T	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.213107|5.213107	0.95069|0.95069	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000261657|ENST00000409790;ENST00000542102;ENST00000409552;ENST00000436973	.|T	.|0.61980	.|0.06	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81664|0.81664	0.4870|0.4870	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	D|D	0.84009|0.84009	0.0347|0.0347	5|10	.|0.87932	.|D	.|0	-23.0326|-23.0326	18.5026|18.5026	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|812;794	.|Q2KHT3;Q2KHT3-2	.|CL16A_HUMAN;.	L|C	3|812;812;794;5	.|ENSP00000387122:R812C	.|ENSP00000386495:R794C	P|R	+|+	2|1	0|0	CLEC16A|CLEC16A	11125265|11125265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.838000|5.838000	0.69388|0.69388	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		13	9	0	0	0	1	0	13	9				
COPB1	1315	broad.mit.edu	37	11	14496079	14496079	+	Missense_Mutation	SNP	G	G	A	rs142993682		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14496079G>A	ENST00000249923.3	-	14	1999	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.R567C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	567					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCTACATAGCGCAATGCAATC	0.403													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18647	0.0		0.0	False		,,,				2504	0.0					ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1699-1701)Cgc>Tgc		coatomer protein complex, subunit beta 1		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	137.0	136.0	137.0		1699,1699,1699	6.0	1.0	11	dbSNP_134	137	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense,missense	COPB1	NM_001144061.1,NM_001144062.1,NM_016451.4	180,180,180	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	567/954,567/954,567/954	14496079	2,12986	2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14496079G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1699C>T	11.37:g.14496079G>A	ENSP00000249923:p.Arg567Cys					COPB1_ENST00000439561.2_Missense_Mutation_p.R567C|COPB1_ENST00000526191.1_5'UTR	p.R567C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			14	1999	-			567					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1699C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396003	0.96009	0.0	2.33E-4	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.13657	2.57;2.57	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.28235	-1.0050	10	0.87932	D	0	-6.8813	20.5666	0.99351	0.0:0.0:1.0:0.0	.	567	P53618	COPB_HUMAN	C	567	ENSP00000249923:R567C;ENSP00000397873:R567C	ENSP00000249923:R567C	R	-	1	0	COPB1	14452655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.591000	0.98241	2.854000	0.98071	0.655000	0.94253	CGC		0.403	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		32	45	0	0	0	1	0	32	45				
OR5AR1	219493	broad.mit.edu	37	11	56431825	56431825	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56431825C>A	ENST00000302969.2	+	1	688	c.664C>A	c.(664-666)Ctt>Att	p.L222I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TACCTTTATCCTTGTTGCAAT	0.478																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(664-666)Ctt>Att		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							164.0	140.0	148.0					11																	56431825		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431825C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.664C>A	11.37:g.56431825C>A	ENSP00000302639:p.Leu222Ile						p.L222I	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	688	+			222					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.664C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029592	0.02045	.	.	ENSG00000172459	ENST00000302969	T	0.00152	8.66	4.91	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.167404	0.28659	N	0.014579	T	0.00073	0.0002	N	0.11892	0.195	0.21861	N	0.999504	B	0.23377	0.084	B	0.30179	0.112	T	0.03898	-1.0994	10	0.07813	T	0.8	.	6.6419	0.22914	0.0:0.6874:0.1485:0.1641	.	222	Q8NGP9	O5AR1_HUMAN	I	222	ENSP00000302639:L222I	ENSP00000302639:L222I	L	+	1	0	OR5AR1	56188401	0.000000	0.05858	0.977000	0.42913	0.270000	0.26580	-0.289000	0.08365	1.294000	0.44707	0.573000	0.79308	CTT		0.478	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		41	57	1	0	3.66854e-30	1	4.11036e-30	41	57				
ZNF227	7770	broad.mit.edu	37	19	44740962	44740962	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44740962C>T	ENST00000313040.7	+	6	2584	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	ZNF227_ENST00000589005.1_Silent_p.V742V|ZNF227_ENST00000391961.2_Silent_p.V742V|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	793					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATCAGAAAGTCCATACTGGTA	0.403																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2377-2379)gtC>gtT		zinc finger protein 227							42.0	39.0	40.0					19																	44740962		2203	4300	6503	SO:0001819	synonymous_variant	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740962C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2379C>T	19.37:g.44740962C>T						ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Silent_p.V742V|ZNF227_ENST00000589005.1_Silent_p.V742V	p.V793V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2584	+		Prostate(69;0.0435)	793					B3KRU7|B7Z5P9	Silent	SNP	ENST00000313040.7	37	c.2379C>T	CCDS12636.1																																																																																				0.403	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		17	30	0	0	0	1	0	17	30				
IGSF10	285313	broad.mit.edu	37	3	151155715	151155715	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151155715C>T	ENST00000282466.3	-	6	6633	c.6634G>A	c.(6634-6636)Gta>Ata	p.V2212I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2212	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTACACATACGTACTCTCCA	0.418																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(6634-6636)Gta>Ata		immunoglobulin superfamily, member 10							116.0	110.0	112.0					3																	151155715		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155715C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6634G>A	3.37:g.151155715C>T	ENSP00000282466:p.Val2212Ile					IGSF10_ENST00000495443.1_5'UTR	p.V2212I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6633	-			2212			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6634G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747052	0.49257	.	.	ENSG00000152580	ENST00000282466	T	0.27402	1.67	5.77	3.61	0.41365	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.348339	0.20413	N	0.092840	T	0.16896	0.0406	N	0.10733	0.035	0.41134	D	0.985906	D;B	0.55605	0.972;0.162	P;B	0.49332	0.607;0.079	T	0.06110	-1.0845	10	0.12103	T	0.63	.	5.5566	0.17119	0.0:0.4701:0.3592:0.1707	.	2212;239	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2212	ENSP00000282466:V2212I	ENSP00000282466:V2212I	V	-	1	0	IGSF10	152638405	0.640000	0.27243	0.988000	0.46212	0.940000	0.58332	1.105000	0.31086	1.403000	0.46800	0.591000	0.81541	GTA		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		25	66	0	0	0	1	0	25	66				
SIM1	6492	broad.mit.edu	37	6	100895199	100895199	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:100895199G>A	ENST00000369208.3	-	9	1725	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	SIM1_ENST00000262901.4_Missense_Mutation_p.H315Y			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	315	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGACTGTTGTGCACGATGGTC	0.597																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(943-945)Cac>Tac		single-minded family bHLH transcription factor 1							166.0	123.0	137.0					6																	100895199		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895199G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.943C>T	6.37:g.100895199G>A	ENSP00000358210:p.His315Tyr					SIM1_ENST00000262901.4_Missense_Mutation_p.H315Y	p.H315Y			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1725	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	315			PAC.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.943C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169122	0.78339	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.15372	2.43;2.43	6.17	6.17	0.99709	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.28344	0.845	0.80722	D	1	P	0.51240	0.943	P	0.53722	0.733	T	0.04320	-1.0960	10	0.17832	T	0.49	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315	P81133	SIM1_HUMAN	Y	315	ENSP00000358210:H315Y;ENSP00000262901:H315Y	ENSP00000262901:H315Y	H	-	1	0	SIM1	101001920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	CAC		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	28	0	0	0	1	0	6	28				
WRAP73	49856	broad.mit.edu	37	1	3551600	3551600	+	Silent	SNP	C	C	A	rs374901046		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3551600C>A	ENST00000270708.7	-	8	850	c.777G>T	c.(775-777)acG>acT	p.T259T	WRAP73_ENST00000378322.3_Silent_p.T259T	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	259						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						GCCCAAACTCCGTGATCATTT	0.567																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(775-777)acG>acT		WD repeat containing, antisense to TP73							200.0	194.0	196.0					1																	3551600		2203	4300	6503	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3551600C>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.777G>T	1.37:g.3551600C>A						WRAP73_ENST00000270708.7_Silent_p.T259T	p.T259T			Q9P2S5	WRP73_HUMAN			8	835	-			259					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.777G>T	CCDS48.1																																																																																				0.567	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			69	95	1	0	1.8615e-32	1	2.08843e-32	69	95				
RAB30	27314	broad.mit.edu	37	11	82698794	82698794	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:82698794C>T	ENST00000533486.1	-	5	480	c.196G>A	c.(196-198)Gca>Aca	p.A66T	RAB30_ENST00000260056.2_Missense_Mutation_p.A66T|RAB30_ENST00000525117.1_Missense_Mutation_p.A38T|RAB30_ENST00000527633.1_Missense_Mutation_p.A66T|RAB30_ENST00000532548.1_Missense_Mutation_p.A66T|RAB30_ENST00000534141.1_Missense_Mutation_p.A66T|RP11-659G9.3_ENST00000527550.1_RNA	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	66					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTGACCTGCTGTGTCCCAG	0.443																																						ENST00000533486.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(196-198)Gca>Aca		RAB30, member RAS oncogene family							143.0	142.0	142.0					11																	82698794		2203	4300	6503	SO:0001583	missense	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82698794C>T	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.196G>A	11.37:g.82698794C>T	ENSP00000435189:p.Ala66Thr					RAB30_ENST00000534141.1_Missense_Mutation_p.A66T|RAB30_ENST00000532548.1_Missense_Mutation_p.A66T|RAB30_ENST00000527633.1_Missense_Mutation_p.A66T|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Missense_Mutation_p.A38T|RAB30_ENST00000260056.2_Missense_Mutation_p.A66T	p.A66T	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN			5	480	-			66					Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	c.196G>A	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720259	0.96839	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000533014;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000524635;ENST00000526205;ENST00000534103	D;D;D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96747	0.8938	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97092	0.9791	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	38;66;66	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	T	66;66;66;30;66;66;66;38;66;20;66;66	ENSP00000435189:A66T;ENSP00000434974:A66T;ENSP00000260056:A66T;ENSP00000433832:A30T;ENSP00000435089:A66T;ENSP00000434953:A66T;ENSP00000432193:A66T;ENSP00000433243:A38T;ENSP00000437235:A66T;ENSP00000436587:A20T;ENSP00000432336:A66T;ENSP00000435542:A66T	.	A	-	1	0	RAB30	82376442	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA		0.443	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		21	28	0	0	0	1	0	21	28				
DCD	117159	broad.mit.edu	37	12	55038967	55038967	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55038967G>A	ENST00000293371.6	-	4	468	c.279C>T	c.(277-279)agC>agT	p.S93S	DCD_ENST00000456047.2_Silent_p.S93S	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	93					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)	p.S93S(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CTTTACCCACGCTTTCTAGAT	0.507																																						ENST00000456047.2																			1	Substitution - coding silent(1)	p.S93S(1)	large_intestine(1)	large_intestine(2)|lung(2)|ovary(1)|skin(1)	6						c.(277-279)agC>agT		dermcidin							162.0	147.0	152.0					12																	55038967		2203	4300	6503	SO:0001819	synonymous_variant	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55038967G>A	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.279C>T	12.37:g.55038967G>A						DCD_ENST00000293371.6_Silent_p.S93S	p.S93S			P81605	DCD_HUMAN			4	468	-		Myeloproliferative disorder(1001;0.0255)	93					A5JHP2|A5JHP3|P58461|Q53YJ2	Silent	SNP	ENST00000293371.6	37	c.279C>T	CCDS8884.1																																																																																				0.507	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		39	56	0	0	0	1	0	39	56				
MON1B	22879	broad.mit.edu	37	16	77229569	77229569	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:77229569T>C	ENST00000248248.3	+	5	1783	c.1433T>C	c.(1432-1434)cTa>cCa	p.L478P	MON1B_ENST00000545553.1_Missense_Mutation_p.L332P|MON1B_ENST00000439557.2_Missense_Mutation_p.L369P|MON1B_ENST00000320859.6_Missense_Mutation_p.Y142H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	478										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AAGGAGACACTACTGGCCTGG	0.592																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1432-1434)cTa>cCa		MON1 secretory trafficking family member B							74.0	69.0	71.0					16																	77229569		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229569T>C	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1433T>C	16.37:g.77229569T>C	ENSP00000248248:p.Leu478Pro					MON1B_ENST00000545553.1_Missense_Mutation_p.L332P|MON1B_ENST00000439557.2_Missense_Mutation_p.L369P|MON1B_ENST00000320859.6_Missense_Mutation_p.Y142H	p.L478P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			5	1783	+			478					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1433T>C	CCDS10925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.51|18.51	3.638672|3.638672	0.67130|0.67130	.|.	.|.	ENSG00000103111|ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553|ENST00000320859	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.71341|0.71341	0.3328|0.3328	M|M	0.87758|0.87758	2.905|2.905	0.29020|0.29020	N|N	0.886319|0.886319	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;0.998;1.0|.	T|T	0.70890|0.70890	-0.4749|-0.4749	9|6	0.54805|0.87932	T|D	0.06|0	.|.	13.5077|13.5077	0.61493|0.61493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	332;369;358;478|.	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2|.	.;.;.;MON1B_HUMAN|.	P|H	478;369;332|142	.|.	ENSP00000248248:L478P|ENSP00000324833:Y142H	L|Y	+|+	2|1	0|0	MON1B|MON1B	75787070|75787070	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.979000|0.979000	0.70002|0.70002	7.926000|7.926000	0.87569|0.87569	2.233000|2.233000	0.73108|0.73108	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.592	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		3	41	0	0	0	1	0	3	41				
NCKAP1	10787	broad.mit.edu	37	2	183821199	183821199	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:183821199C>T	ENST00000361354.4	-	20	2516	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R721H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	715					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTGGTAAAGCGTATTTCCAG	0.318																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2161-2163)cGc>cAc		NCK-associated protein 1							106.0	109.0	108.0					2																	183821199		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183821199C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2144G>A	2.37:g.183821199C>T	ENSP00000355348:p.Arg715His					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R715H	p.R721H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2920	-			715					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2162G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020005	0.93462	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.33438	1.41;1.41	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.68432	-0.5410	10	0.56958	D	0.05	-5.0729	17.4209	0.87515	0.0:1.0:0.0:0.0	.	715;721	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	H	715;721	ENSP00000355348:R715H;ENSP00000354251:R721H	ENSP00000354251:R721H	R	-	2	0	NCKAP1	183529444	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.747000	0.85070	2.100000	0.63781	0.650000	0.86243	CGC		0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		39	85	0	0	0	1	0	39	85				
ALPK2	115701	broad.mit.edu	37	18	56247545	56247545	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56247545G>A	ENST00000361673.3	-	4	676	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	155						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGTGCCCGGGGAGATGCTT	0.488																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(463-465)Ccg>Tcg		alpha-kinase 2							220.0	223.0	222.0					18																	56247545		2149	4255	6404	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247545G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.463C>T	18.37:g.56247545G>A	ENSP00000354991:p.Pro155Ser						p.P155S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	676	-			155					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.463C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	3.620	-0.077679	0.07184	.	.	ENSG00000198796	ENST00000361673	T	0.39787	1.06	5.69	-6.8	0.01709	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.32161	-0.9917	9	0.02654	T	1	0.6566	3.8798	0.09072	0.278:0.3486:0.2911:0.0823	.	155	Q86TB3	ALPK2_HUMAN	S	155	ENSP00000354991:P155S	ENSP00000354991:P155S	P	-	1	0	ALPK2	54398525	0.000000	0.05858	0.000000	0.03702	0.460000	0.32559	-1.462000	0.02364	-1.012000	0.03387	0.467000	0.42956	CCG		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		44	63	0	0	0	1	0	44	63				
GTF3C6	112495	broad.mit.edu	37	6	111288819	111288819	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111288819C>T	ENST00000329970.7	+	6	678	c.468C>T	c.(466-468)gcC>gcT	p.A156A	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	156					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TAGCTTCAGCCCCAGATAAAT	0.388																																						ENST00000329970.7																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(466-468)gcC>gcT		general transcription factor IIIC, polypeptide 6, alpha 35kDa							104.0	109.0	107.0					6																	111288819		2203	4300	6503	SO:0001819	synonymous_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288819C>T	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.468C>T	6.37:g.111288819C>T						GTF3C6_ENST00000480191.1_3'UTR	p.A156A	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	678	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	156					Q5VXN2	Silent	SNP	ENST00000329970.7	37	c.468C>T	CCDS5087.1																																																																																				0.388	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		47	65	0	0	0	1	0	47	65				
COMP	1311	broad.mit.edu	37	19	18896317	18896317	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18896317G>T	ENST00000222271.2	-	15	1752	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	COMP_ENST00000425807.1_Missense_Mutation_p.L517M|COMP_ENST00000542601.2_Missense_Mutation_p.L537M	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	570	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCACAGCCAGGCCTGGGTCG	0.667																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1609-1611)Ctg>Atg		cartilage oligomeric matrix protein							78.0	80.0	79.0					19																	18896317		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896317G>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1708C>A	19.37:g.18896317G>T	ENSP00000222271:p.Leu570Met					COMP_ENST00000425807.1_Missense_Mutation_p.L517M|COMP_ENST00000222271.2_Missense_Mutation_p.L570M	p.L537M			P49747	COMP_HUMAN			14	1998	-			570			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1609C>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841874	0.71488	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97089	-4.24;-4.24;-4.24	4.6	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.56097	U	0.000027	D	0.97810	0.9281	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.987;1.0	D	0.97969	1.0342	10	0.66056	D	0.02	-23.9131	10.7106	0.45982	0.0963:0.0:0.9037:0.0	.	517;570	B4DKJ3;P49747	.;COMP_HUMAN	M	537;570;517;557	ENSP00000439156:L537M;ENSP00000222271:L570M;ENSP00000403792:L517M	ENSP00000222271:L570M	L	-	1	2	COMP	18757317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.952000	0.49097	2.102000	0.63906	0.484000	0.47621	CTG		0.667	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		32	33	1	0	6.53348e-20	1	7.23485e-20	32	33				
SYNDIG1L	646658	broad.mit.edu	37	14	74876313	74876313	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74876313G>A	ENST00000554823.1	-	1	196	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SYNDIG1L_ENST00000331628.3_Silent_p.G45G			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	45					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGGCCCAGCGCCACCTAGGA	0.687																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(133-135)ggC>ggT		synapse differentiation inducing 1-like							27.0	31.0	30.0					14																	74876313		1922	4132	6054	SO:0001819	synonymous_variant	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876313G>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.135C>T	14.37:g.74876313G>A						SYNDIG1L_ENST00000554823.1_Silent_p.G45G	p.G45G	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			2	382	-			45						Silent	SNP	ENST00000554823.1	37	c.135C>T	CCDS41970.1																																																																																				0.687	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		13	14	0	0	0	1	0	13	14				
CRLF3	51379	broad.mit.edu	37	17	29131012	29131012	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29131012C>T	ENST00000324238.6	-	2	368	c.244G>A	c.(244-246)Gac>Aac	p.D82N	CRLF3_ENST00000544695.1_Intron|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	82					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCAATGGTGTCCACCTCTTGC	0.473																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(244-246)Gac>Aac		cytokine receptor-like factor 3							170.0	156.0	161.0					17																	29131012		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29131012C>T	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.244G>A	17.37:g.29131012C>T	ENSP00000318804:p.Asp82Asn					CRLF3_ENST00000544695.1_Intron	p.D82N	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			2	368	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	82					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.244G>A	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383474	0.82792	.	.	ENSG00000176390	ENST00000324238	T	0.26660	1.72	5.16	5.16	0.70880	.	0.192612	0.53938	D	0.000044	T	0.28764	0.0713	M	0.61703	1.905	0.80722	D	1	P	0.46142	0.873	B	0.43916	0.436	T	0.02385	-1.1167	10	0.18710	T	0.47	-26.3846	12.3853	0.55328	0.0:0.922:0.0:0.078	.	82	Q8IUI8	CRLF3_HUMAN	N	82	ENSP00000318804:D82N	ENSP00000318804:D82N	D	-	1	0	CRLF3	26155138	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.122000	0.64697	2.582000	0.87167	0.563000	0.77884	GAC		0.473	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			45	77	0	0	0	1	0	45	77				
DGCR14	8220	broad.mit.edu	37	22	19126686	19126686	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19126686C>T	ENST00000252137.6	-	6	851	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	270					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GCATTGAGGGCGGCTGCCTGC	0.637																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(808-810)Gcc>Acc		DiGeorge syndrome critical region gene 14							31.0	31.0	31.0					22																	19126686		2203	4299	6502	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19126686C>T	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.808G>A	22.37:g.19126686C>T	ENSP00000252137:p.Ala270Thr						p.A270T	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			6	851	-	Colorectal(54;0.0993)		270					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.808G>A	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332104	0.81801	.	.	ENSG00000100056	ENST00000252137	T	0.48201	0.82	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55503	-0.8131	10	0.21014	T	0.42	-16.9578	17.7639	0.88471	0.0:1.0:0.0:0.0	.	270	Q96DF8	DGC14_HUMAN	T	270	ENSP00000252137:A270T	ENSP00000252137:A270T	A	-	1	0	DGCR14	17506686	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.451000	0.80668	2.284000	0.76573	0.563000	0.77884	GCC		0.637	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			7	4	0	0	0	1	0	7	4				
MROH7	374977	broad.mit.edu	37	1	55118841	55118841	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55118841C>T	ENST00000421030.2	+	3	527	c.242C>T	c.(241-243)cCc>cTc	p.P81L	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.P81L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.P81L|MROH7_ENST00000395690.2_Missense_Mutation_p.P81L|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	81						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAAAACACCCCCAGACCTGAT	0.542																																						ENST00000414150.2																			0											c.(241-243)cCc>cTc		maestro heat-like repeat family member 7							70.0	70.0	70.0					1																	55118841		1939	4119	6058	SO:0001583	missense	374977							g.chr1:55118841C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.242C>T	1.37:g.55118841C>T	ENSP00000396622:p.Pro81Leu					MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P81L|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.P81L|MROH7_ENST00000339553.5_Missense_Mutation_p.P81L	p.P81L							3	520	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.242C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650525	0.47362	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.03496	4.44;3.91;3.92	3.21	0.0824	0.14428	.	1.073000	0.07422	N	0.894147	T	0.03477	0.0100	L	0.29908	0.895	0.24154	N	0.995684	B;B;B	0.22909	0.077;0.004;0.073	B;B;B	0.26770	0.017;0.005;0.073	T	0.47071	-0.9145	10	0.87932	D	0	.	3.9158	0.09222	0.3883:0.4879:0.0:0.1238	.	81;81;81	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	L	81	ENSP00000396622:P81L;ENSP00000343211:P81L;ENSP00000379044:P81L	ENSP00000343211:P81L	P	+	2	0	HEATR8	54891429	0.001000	0.12720	0.332000	0.25469	0.062000	0.15995	0.941000	0.29005	0.035000	0.15519	0.556000	0.70494	CCC		0.542	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		23	39	0	0	0	1	0	23	39				
FAM118B	79607	broad.mit.edu	37	11	126126745	126126745	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126126745C>T	ENST00000533050.1	+	7	1473	c.980C>T	c.(979-981)tCa>tTa	p.S327L	FAM118B_ENST00000529731.1_Missense_Mutation_p.S251L|FAM118B_ENST00000360194.4_Missense_Mutation_p.S327L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	327										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGGGGTACATCAGGTAAGATG	0.438																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(979-981)tCa>tTa		family with sequence similarity 118, member B							137.0	141.0	140.0					11																	126126745		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126745C>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.980C>T	11.37:g.126126745C>T	ENSP00000433343:p.Ser327Leu					FAM118B_ENST00000360194.4_Missense_Mutation_p.S327L	p.S327L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1473	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	327					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.980C>T	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356257	0.61293	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194	T;T;T;T	0.44083	1.51;1.51;0.93;1.51	5.14	4.23	0.50019	.	0.567809	0.17346	N	0.177582	T	0.31420	0.0796	L	0.27053	0.805	0.23645	N	0.997211	B;B;B	0.15473	0.013;0.008;0.0	B;B;B	0.14023	0.01;0.004;0.0	T	0.16276	-1.0408	10	0.34782	T	0.22	-11.1081	13.5604	0.61786	0.0:0.9257:0.0:0.0743	.	251;327;327	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	L	327;327;251;327	ENSP00000433343:S327L;ENSP00000434952:S327L;ENSP00000432712:S251L;ENSP00000353321:S327L	ENSP00000353321:S327L	S	+	2	0	FAM118B	125631955	0.998000	0.40836	0.998000	0.56505	0.954000	0.61252	3.813000	0.55636	1.394000	0.46624	0.591000	0.81541	TCA		0.438	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		51	96	0	0	0	1	0	51	96				
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaaggaggag	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075500G>A																													15.37:g.76075500G>A														0	1140	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			7	205	0	0	0	1	0	7	205				
ADSL	158	broad.mit.edu	37	22	40757540	40757540	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40757540G>A	ENST00000216194.7	+	9	967	c.911G>A	c.(910-912)tGc>tAc	p.C304Y	ADSL_ENST00000454266.2_Missense_Mutation_p.C318Y|ADSL_ENST00000342312.6_Missense_Mutation_p.C304Y|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	304					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TCAGAACGTTGCTGCAGTCTT	0.522																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(910-912)tGc>tAc		adenylosuccinate lyase							165.0	132.0	143.0					22																	40757540		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40757540G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.911G>A	22.37:g.40757540G>A	ENSP00000216194:p.Cys304Tyr					ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.C318Y|ADSL_ENST00000342312.6_Missense_Mutation_p.C304Y	p.C304Y	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			9	967	+			304					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.911G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030281	0.93575	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	T;T;T	0.76316	-1.01;-1.01;-1.01	5.91	5.91	0.95273	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.995;0.995;0.995	D	0.91340	0.5096	10	0.87932	D	0	-11.7125	20.2985	0.98592	0.0:0.0:1.0:0.0	.	318;304;304;304	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	Y	304;318;124;304	ENSP00000216194:C304Y;ENSP00000390107:C318Y;ENSP00000341429:C304Y	ENSP00000216194:C304Y	C	+	2	0	ADSL	39087486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.026000	0.93700	2.793000	0.96121	0.655000	0.94253	TGC		0.522	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		46	57	0	0	0	1	0	46	57				
PDZRN4	29951	broad.mit.edu	37	12	41585332	41585332	+	Missense_Mutation	SNP	G	G	T	rs183846339	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:41585332G>T	ENST00000402685.2	+	2	729	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	241	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATTATAGGAGGTCGACCAAA	0.303																																						ENST00000402685.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(721-723)Ggt>Tgt		PDZ domain containing ring finger 4							98.0	91.0	93.0					12																	41585332		1568	3576	5144	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41585332G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.721G>T	12.37:g.41585332G>T	ENSP00000384197:p.Gly241Cys						p.G241C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN			2	729	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	241			PDZ 1.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.721G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873935	0.72180	.	.	ENSG00000165966	ENST00000402685	T	0.60424	0.19	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	.	.	.	.	D	0.83783	0.5329	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89602	0.3835	9	0.87932	D	0	.	16.2123	0.82170	0.0:0.0:1.0:0.0	.	241	Q6ZMN7	PZRN4_HUMAN	C	241	ENSP00000384197:G241C	ENSP00000384197:G241C	G	+	1	0	PDZRN4	39871599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.921000	0.87530	2.422000	0.82143	0.563000	0.77884	GGT		0.303	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		15	27	1	0	0.000422831	1	0.000430994	15	27				
ATRNL1	26033	broad.mit.edu	37	10	117061448	117061448	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:117061448G>A	ENST00000355044.3	+	17	2839	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	ATRNL1_ENST00000423111.2_Missense_Mutation_p.E2K|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	905	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATGGCATGGAGTGTATGTG	0.433																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2713-2715)Gag>Aag		attractin-like 1							269.0	193.0	219.0					10																	117061448		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061448G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2713G>A	10.37:g.117061448G>A	ENSP00000347152:p.Glu905Lys					ATRNL1_ENST00000423111.2_Missense_Mutation_p.E2K	p.E905K	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2839	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	905			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2713G>A	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.807623|5.807623	0.96967|0.96967	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.25749|.	2.27;1.78|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.81914|.	0.98;0.995|.	T|T	0.76113|0.76113	-0.3078|-0.3078	10|5	0.72032|.	D|.	0.01|.	-8.7149|-8.7149	19.7031|19.7031	0.96063|0.96063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2;905|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	K|E	905;2|34	ENSP00000347152:E905K;ENSP00000409624:E2K|.	ENSP00000347152:E905K|.	E|G	+|+	1|2	0|0	ATRNL1|ATRNL1	117051438|117051438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.754000|9.754000	0.98908|0.98908	2.664000|2.664000	0.90586|0.90586	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.433	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		23	40	0	0	0	1	0	23	40				
CXCR5	643	broad.mit.edu	37	11	118765271	118765271	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118765271C>T	ENST00000292174.4	+	2	1194	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	340					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTGACGAAGCTGGGCTGTAC	0.622																																						ENST00000292174.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1018-1020)Ctg>Ttg		chemokine (C-X-C motif) receptor 5							58.0	54.0	55.0					11																	118765271		2200	4295	6495	SO:0001819	synonymous_variant	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118765271C>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.1018C>T	11.37:g.118765271C>T						BCL9L_ENST00000334801.3_3'UTR	p.L340L	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	1194	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	340					Q14811	Silent	SNP	ENST00000292174.4	37	c.1018C>T	CCDS8402.1																																																																																				0.622	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		15	31	0	0	0	1	0	15	31				
GDF11	10220	broad.mit.edu	37	12	56143335	56143335	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56143335G>A	ENST00000257868.5	+	3	930	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	298					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTTCCCGGCGGAACCTGGGT	0.557																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(892-894)cGg>cAg		growth differentiation factor 11							81.0	82.0	81.0					12																	56143335		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143335G>A	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.893G>A	12.37:g.56143335G>A	ENSP00000257868:p.Arg298Gln						p.R298Q	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			3	930	+			298					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.893G>A	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.568493|5.568493	0.96540|0.96540	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000546799|ENST00000257868	.|D	.|0.81821	.|-1.54	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Transforming growth factor-beta, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90253|0.90253	0.6952|0.6952	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74023	.|0.982	D|D	0.91830|0.91830	0.5474|0.5474	5|10	.|0.87932	.|D	.|0	-17.0608|-17.0608	16.0718|16.0718	0.80941|0.80941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|298	.|O95390	.|GDF11_HUMAN	R|Q	271|298	.|ENSP00000257868:R298Q	.|ENSP00000257868:R298Q	G|R	+|+	1|2	0|0	GDF11|GDF11	54429602|54429602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.557	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			48	44	0	0	0	1	0	48	44				
ZNF33B	7582	broad.mit.edu	37	10	43088557	43088557	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43088557C>T	ENST00000359467.3	-	5	1955	c.1841G>A	c.(1840-1842)tGt>tAt	p.C614Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GGTTTTTCCACATTCATTACA	0.363																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1840-1842)tGt>tAt		zinc finger protein 33B							93.0	91.0	92.0					10																	43088557		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088557C>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1841G>A	10.37:g.43088557C>T	ENSP00000352444:p.Cys614Tyr					ZNF33B_ENST00000486187.1_RNA	p.C614Y	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1955	-			614					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1841G>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952204	0.53293	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	D	0.85861	-2.04	2.46	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36893	N	0.002352	D	0.93602	0.7957	H	0.95712	3.71	0.38019	D	0.93477	D	0.89917	1.0	D	0.91635	0.999	D	0.94946	0.8095	10	0.66056	D	0.02	.	11.1092	0.48221	0.0:1.0:0.0:0.0	.	614	Q06732	ZN33B_HUMAN	Y	614;580	ENSP00000352444:C614Y	ENSP00000352444:C614Y	C	-	2	0	ZNF33B	42408563	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.303000	0.72794	1.711000	0.51337	0.409000	0.27619	TGT		0.363	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		34	53	0	0	0	1	0	34	53				
CACNA2D3	55799	broad.mit.edu	37	3	55038847	55038847	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:55038847C>T	ENST00000474759.1	+	32	2796	c.2748C>T	c.(2746-2748)ggC>ggT	p.G916G	CACNA2D3_ENST00000490478.1_Silent_p.G822G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G916G|CACNA2D3_ENST00000415676.2_Silent_p.G916G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	916						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GCAGCGATGGCGCCCATGGCC	0.453																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2746-2748)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							115.0	111.0	112.0					3																	55038847		1956	4149	6105	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55038847C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2748C>T	3.37:g.55038847C>T						CACNA2D3_ENST00000288197.5_Silent_p.G916G|CACNA2D3_ENST00000415676.2_Silent_p.G916G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G822G	p.G916G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	32	2796	+			916					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2748C>T	CCDS54598.1																																																																																				0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			22	22	0	0	0	1	0	22	22				
NCAN	1463	broad.mit.edu	37	19	19349134	19349134	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19349134C>T	ENST00000252575.6	+	11	3422	c.3323C>T	c.(3322-3324)gCa>gTa	p.A1108V	NCAN_ENST00000538881.1_Missense_Mutation_p.A559V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1108	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CACCGGAGGGCATGGGAAGAT	0.627																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3322-3324)gCa>gTa		neurocan							50.0	56.0	54.0					19																	19349134		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349134C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3323C>T	19.37:g.19349134C>T	ENSP00000252575:p.Ala1108Val					NCAN_ENST00000538881.1_Missense_Mutation_p.A559V	p.A1108V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3366	+			1108			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3323C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166393	0.94768	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17213	2.29;2.29	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.195287	0.25503	N	0.030221	T	0.32912	0.0845	L	0.41492	1.28	0.41659	D	0.989172	D;D	0.76494	0.999;0.989	D;P	0.72982	0.979;0.871	T	0.03969	-1.0988	10	0.66056	D	0.02	.	15.3064	0.73995	0.0:1.0:0.0:0.0	.	1122;1108	Q4LE67;O14594	.;NCAN_HUMAN	V	1122;1108;559	ENSP00000252575:A1108V;ENSP00000442202:A559V	ENSP00000252575:A1108V	A	+	2	0	NCAN	19210134	1.000000	0.71417	0.950000	0.38849	0.930000	0.56654	4.477000	0.60223	2.464000	0.83262	0.561000	0.74099	GCA		0.627	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		22	24	0	0	0	1	0	22	24				
CES1	1066	broad.mit.edu	37	16	55862745	55862745	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55862745C>A	ENST00000361503.4	-	2	321	c.191G>T	c.(190-192)aGg>aTg	p.R64M	CES1_ENST00000360526.3_Missense_Mutation_p.R65M|CES1_ENST00000422046.2_Missense_Mutation_p.R64M|CES1_ENST00000566555.1_5'Flank			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TGGAGTAAACCTCAGGGGTCC	0.542																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(190-192)aGg>aTg		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						102.0	99.0	100.0					16																	55862745		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862745C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.191G>T	16.37:g.55862745C>A	ENSP00000355193:p.Arg64Met					CES1_ENST00000360526.3_Missense_Mutation_p.R65M|CES1_ENST00000361503.4_Missense_Mutation_p.R64M	p.R64M			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	472	-			64	R -> G (in Ref. 18; CAA37147).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.191G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	16.88	3.244866	0.59103	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.38887	1.24;1.24;1.11	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.53938	D	0.000055	T	0.80160	0.4572	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89201	0.3557	10	0.87932	D	0	.	14.6933	0.69101	0.0:1.0:0.0:0.0	.	64;64;65	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	M	65;64;64	ENSP00000353720:R65M;ENSP00000355193:R64M;ENSP00000390492:R64M	ENSP00000353720:R65M	R	-	2	0	CES1	54420246	1.000000	0.71417	0.997000	0.53966	0.241000	0.25554	7.094000	0.76944	2.051000	0.60960	0.393000	0.25936	AGG		0.542	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		5	15	1	0	0.00116845	1	0.0011864	5	15				
TTC14	151613	broad.mit.edu	37	3	180322340	180322340	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180322340C>A	ENST00000296015.4	+	5	778	c.646C>A	c.(646-648)Cta>Ata	p.L216I	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.L216I|TTC14_ENST00000412756.2_Missense_Mutation_p.L216I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	216							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCCACCACACCTATCTGGTAT	0.333																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(646-648)Cta>Ata		tetratricopeptide repeat domain 14							66.0	65.0	65.0					3																	180322340		2203	4295	6498	SO:0001583	missense	151613						RNA binding	g.chr3:180322340C>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.646C>A	3.37:g.180322340C>A	ENSP00000296015:p.Leu216Ile					TTC14_ENST00000296015.4_Missense_Mutation_p.L216I|TTC14_ENST00000382584.4_Missense_Mutation_p.L216I	p.L216I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		5	715	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		216					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.646C>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590530	0.46214	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.50001	0.76;0.76	5.71	2.82	0.32997	.	0.284900	0.34386	N	0.004002	T	0.37652	0.1011	L	0.46157	1.445	0.80722	D	1	P;B;B	0.45283	0.855;0.063;0.376	B;B;B	0.40702	0.338;0.04;0.09	T	0.09509	-1.0671	10	0.35671	T	0.21	-4.525	8.4286	0.32744	0.1229:0.7405:0.0:0.1365	.	216;216;216	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	I	216;216;216;116;116	ENSP00000296015:L216I;ENSP00000372027:L216I	ENSP00000296015:L216I	L	+	1	2	TTC14	181805034	0.015000	0.18098	0.982000	0.44146	0.971000	0.66376	0.296000	0.19083	0.705000	0.31890	0.650000	0.86243	CTA		0.333	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		16	70	1	0	2.31682e-05	1	2.39009e-05	16	70				
RALGAPB	57148	broad.mit.edu	37	20	37194073	37194073	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:37194073G>A	ENST00000262879.6	+	25	4053	c.3769G>A	c.(3769-3771)Gcc>Acc	p.A1257T	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A1254T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A1036T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A1257T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1257	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTATGCTGATGCCCTTACAGA	0.383																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3769-3771)Gcc>Acc		Ral GTPase activating protein, beta subunit (non-catalytic)							252.0	236.0	242.0					20																	37194073		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37194073G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3769G>A	20.37:g.37194073G>A	ENSP00000262879:p.Ala1257Thr					RALGAPB_ENST00000397038.1_Missense_Mutation_p.A1036T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A1257T|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A1254T	p.A1257T			Q86X10	RLGPB_HUMAN			25	4053	+			1257			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3769G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707424	0.96821	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.63	5.63	0.86233	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	L	0.58101	1.795	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	D	0.93644	0.6967	10	0.22109	T	0.4	.	19.6895	0.95993	0.0:0.0:1.0:0.0	.	1254;1257	A2A2E9;Q86X10	.;RLGPB_HUMAN	T	1257;1254;1036;1257;1086	ENSP00000262879:A1257T;ENSP00000380235:A1254T;ENSP00000380231:A1036T;ENSP00000380233:A1257T;ENSP00000416646:A1086T	ENSP00000262879:A1257T	A	+	1	0	RALGAPB	36627487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.415000	0.97375	2.644000	0.89710	0.591000	0.81541	GCC		0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		51	83	0	0	0	1	0	51	83				
ISLR2	57611	broad.mit.edu	37	15	74425163	74425163	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74425163C>T	ENST00000361742.3	+	4	837	c.68C>T	c.(67-69)cCg>cTg	p.P23L	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P23L|ISLR2_ENST00000565540.1_Missense_Mutation_p.P23L|ISLR2_ENST00000435464.1_Missense_Mutation_p.P23L|ISLR2_ENST00000453268.2_Missense_Mutation_p.P23L|ISLR2_ENST00000419208.1_Missense_Mutation_p.P23L|ISLR2_ENST00000445793.1_Missense_Mutation_p.P23L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	23	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCCCGGAGCCGTGCGCCTGC	0.627																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(67-69)cCg>cTg		immunoglobulin superfamily containing leucine-rich repeat 2							63.0	57.0	59.0					15																	74425163		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425163C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.68C>T	15.37:g.74425163C>T	ENSP00000355402:p.Pro23Leu					ISLR2_ENST00000565540.1_Missense_Mutation_p.P23L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.P23L|ISLR2_ENST00000435464.1_Missense_Mutation_p.P23L|ISLR2_ENST00000445793.1_Missense_Mutation_p.P23L|ISLR2_ENST00000453268.2_Missense_Mutation_p.P23L|ISLR2_ENST00000565159.1_Missense_Mutation_p.P23L	p.P23L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	837	+			23			LRRNT.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.68C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	4.719	0.133618	0.09032	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.8	3.86	0.44501	Leucine-rich repeat-containing N-terminal (1);	0.337558	0.28589	N	0.014806	T	0.38268	0.1034	L	0.29908	0.895	0.58432	D	0.999992	B	0.27882	0.192	B	0.18871	0.023	T	0.11792	-1.0573	10	0.22109	T	0.4	.	14.2007	0.65703	0.1509:0.849:0.0:0.0	.	23	Q6UXK2	ISLR2_HUMAN	L	23	ENSP00000403244:P23L;ENSP00000355402:P23L;ENSP00000411443:P23L;ENSP00000411834:P23L;ENSP00000408872:P23L	ENSP00000355402:P23L	P	+	2	0	ISLR2	72212216	0.909000	0.30893	0.913000	0.36048	0.438000	0.31896	1.801000	0.38843	0.984000	0.38629	0.407000	0.27541	CCG		0.627	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		20	27	0	0	0	1	0	20	27				
TSTA3	7264	broad.mit.edu	37	8	144697027	144697027	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144697027C>T	ENST00000425753.2	-	4	423	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TSTA3_ENST00000529064.1_Missense_Mutation_p.R107H	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	107					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CACCACCTTGCGGGCGCCCAC	0.627																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(319-321)cGc>cAc		tissue specific transplantation antigen P35B	NADH(DB00157)						110.0	92.0	98.0					8																	144697027		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144697027C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.320G>A	8.37:g.144697027C>T	ENSP00000398803:p.Arg107His					TSTA3_ENST00000529064.1_Missense_Mutation_p.R107H	p.R107H	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	423	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		107					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.320G>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220067	0.39201	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	4.85	2.02	0.26589	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.765524	0.13334	N	0.395716	D	0.89308	0.6678	L	0.52573	1.65	0.09310	N	0.999999	B;B	0.22080	0.064;0.045	B;B	0.21546	0.022;0.035	T	0.82325	-0.0513	10	0.62326	D	0.03	-3.4659	6.2203	0.20677	0.0:0.5799:0.0:0.4201	.	107;107	B4DZW9;Q13630	.;FCL_HUMAN	H	107	ENSP00000435386:R107H;ENSP00000398803:R107H;ENSP00000431587:R107H;ENSP00000437012:R107H;ENSP00000433331:R107H	ENSP00000398803:R107H	R	-	2	0	TSTA3	144768170	0.001000	0.12720	0.812000	0.32479	0.883000	0.51084	-0.150000	0.10189	1.037000	0.40024	0.467000	0.42956	CGC		0.627	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		11	15	0	0	0	1	0	11	15				
ZNF281	23528	broad.mit.edu	37	1	200377605	200377605	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200377605C>T	ENST00000294740.3	-	2	1353	c.1229G>A	c.(1228-1230)aGc>aAc	p.S410N	ZNF281_ENST00000367353.1_Missense_Mutation_p.S410N|ZNF281_ENST00000367352.3_Missense_Mutation_p.S374N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	410					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AATAGCTATGCTTTTTGACTT	0.368																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1228-1230)aGc>aAc		zinc finger protein 281							148.0	147.0	147.0					1																	200377605		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377605C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1229G>A	1.37:g.200377605C>T	ENSP00000294740:p.Ser410Asn					ZNF281_ENST00000367352.3_Missense_Mutation_p.S374N|ZNF281_ENST00000367353.1_Missense_Mutation_p.S410N	p.S410N	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1353	-			410					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1229G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	3.720	-0.057719	0.07317	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07444	3.22;3.22;3.19	5.67	4.76	0.60689	.	0.241859	0.50627	D	0.000120	T	0.04724	0.0128	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40646	-0.9552	10	0.20046	T	0.44	-0.9148	11.2015	0.48743	0.0:0.8537:0.0:0.1463	.	374;410	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	410;410;374;115	ENSP00000294740:S410N;ENSP00000356322:S410N;ENSP00000356321:S374N	ENSP00000294740:S410N	S	-	2	0	ZNF281	198644228	0.945000	0.32115	0.045000	0.18777	0.992000	0.81027	1.168000	0.31859	1.384000	0.46424	-0.137000	0.14449	AGC		0.368	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		41	66	0	0	0	1	0	41	66				
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210971047C>T	ENST00000271751.4	-	9	1745	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R546H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1636-1638)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							62.0	58.0	59.0					1																	210971047		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210971047C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1718G>A	1.37:g.210971047C>T	ENSP00000271751:p.Arg573His					KCNH1_ENST00000271751.4_Missense_Mutation_p.R573H	p.R546H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1806	-			573					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1637G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269988	0.95429	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96885	-4.16;-4.16	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.050022	0.85682	D	0.000000	D	0.98535	0.9511	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.968	D	0.99541	1.0963	10	0.87932	D	0	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	546;573	Q14CL3;O95259	.;KCNH1_HUMAN	H	573;546	ENSP00000271751:R573H;ENSP00000355974:R546H	ENSP00000271751:R573H	R	-	2	0	KCNH1	209037670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	CGC		0.617	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	35	0	0	0	1	0	4	35				
FOXP4	116113	broad.mit.edu	37	6	41545742	41545742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41545742C>T	ENST00000307972.4	+	2	235	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	FOXP4_ENST00000373063.3_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373060.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000409208.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373057.3_Nonsense_Mutation_p.Q75*			Q8IVH2	FOXP4_HUMAN	forkhead box P4	75	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGTGGCCCGGCAGTTCCTGCT	0.617																																						ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(223-225)Cag>Tag		forkhead box P4							30.0	29.0	29.0					6																	41545742		2203	4300	6503	SO:0001587	stop_gained	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41545742C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.223C>T	6.37:g.41545742C>T	ENSP00000309823:p.Gln75*					FOXP4_ENST00000307972.4_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373063.3_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000409208.1_Nonsense_Mutation_p.Q75*|FOXP4_ENST00000373057.3_Nonsense_Mutation_p.Q75*	p.Q75*	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			3	681	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		75			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Nonsense_Mutation	SNP	ENST00000307972.4	37	c.223C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	42	9.211106	0.99101	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972;ENST00000451305	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.213	0.82185	0.0:1.0:0.0:0.0	.	.	.	.	X	75;75;75;75;75;46	.	ENSP00000309823:Q75X	Q	+	1	0	FOXP4	41653720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.428000	0.73383	2.120000	0.65058	0.591000	0.81541	CAG		0.617	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		5	11	0	0	0	1	0	5	11				
KAZN	23254	broad.mit.edu	37	1	15382647	15382647	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15382647C>T	ENST00000376030.2	+	5	1081	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	KAZN_ENST00000361144.5_Missense_Mutation_p.P257S|KAZN_ENST00000400797.3_Missense_Mutation_p.P169S|KAZN_ENST00000503743.1_Missense_Mutation_p.P263S|KAZN_ENST00000400798.2_Missense_Mutation_p.P169S|KAZN_ENST00000422387.2_Missense_Mutation_p.P263S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	263	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTCGCCATGCCGGGCGAGAC	0.597																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(787-789)Ccg>Tcg		kazrin, periplakin interacting protein							74.0	71.0	72.0					1																	15382647		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15382647C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.787C>T	1.37:g.15382647C>T	ENSP00000365198:p.Pro263Ser					KAZN_ENST00000361144.5_Missense_Mutation_p.P257S|KAZN_ENST00000422387.2_Missense_Mutation_p.P263S|KAZN_ENST00000400797.3_Missense_Mutation_p.P169S|KAZN_ENST00000400798.2_Missense_Mutation_p.P169S|KAZN_ENST00000503743.1_Missense_Mutation_p.P263S	p.P263S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			5	1081	+			263			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.787C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024821	0.54683	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.68	5.68	0.88126	.	0.050756	0.85682	D	0.000000	T	0.46870	0.1415	L	0.34521	1.04	0.80722	D	1	P;P;P;D	0.56521	0.617;0.51;0.51;0.976	B;B;B;P	0.49922	0.242;0.154;0.154;0.626	T	0.18935	-1.0321	10	0.14252	T	0.57	-36.8255	18.8336	0.92151	0.0:1.0:0.0:0.0	.	263;169;257;263	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	S	263;263;263;257;169;169	ENSP00000365198:P263S;ENSP00000426015:P263S;ENSP00000391728:P263S;ENSP00000354727:P257S;ENSP00000383602:P169S;ENSP00000383601:P169S	ENSP00000354727:P257S	P	+	1	0	KAZN	15255234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.202000	0.77856	2.695000	0.91970	0.555000	0.69702	CCG		0.597	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		4	37	0	0	0	1	0	4	37				
CARD16	114769	broad.mit.edu	37	11	104916042	104916042	+	5'UTR	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:104916042C>A	ENST00000375706.2	-	0	0				CARD16_ENST00000375704.3_De_novo_Start_OutOfFrame|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16						regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CTCTCCTACCCTTCTTGTGTG	0.483																																						ENST00000375704.3																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11								caspase recruitment domain family, member 16							180.0	169.0	173.0					11																	104916042		2202	4299	6501	SO:0001623	5_prime_UTR_variant	114769							g.chr11:104916042C>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.-18G>T	11.37:g.104916042C>A						CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375706.2_5'UTR		NM_052889.2	NP_443121.1					0	61	-								Q96RJ9	Translation_Start_Site	SNP	ENST00000375706.2	37		CCDS31661.1																																																																																				0.483	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			47	66	1	0	2.52991e-16	1	2.77867e-16	47	66				
PITX2	5308	broad.mit.edu	37	4	111539338	111539338	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111539338C>T	ENST00000354925.2	-	7	2602	c.897G>A	c.(895-897)gtG>gtA	p.V299V	PITX2_ENST00000394598.2_Silent_p.V299V|PITX2_ENST00000306732.3_Silent_p.V306V|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Silent_p.V253V|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	299					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CCGGGTTCTGCACGCTGGCGT	0.627																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(895-897)gtG>gtA		paired-like homeodomain 2							52.0	48.0	50.0					4																	111539338		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539338C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.897G>A	4.37:g.111539338C>T						PITX2_ENST00000394598.2_Silent_p.V299V|PITX2_ENST00000306732.3_Silent_p.V306V|PITX2_ENST00000355080.5_Silent_p.V253V|PITX2_ENST00000394595.3_3'UTR	p.V299V	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2602	-		Hepatocellular(203;0.217)	299					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.897G>A	CCDS3692.1																																																																																				0.627	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			14	21	0	0	0	1	0	14	21				
SIPA1L1	26037	broad.mit.edu	37	14	72138254	72138254	+	Missense_Mutation	SNP	A	A	G	rs201806112		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72138254A>G	ENST00000555818.1	+	8	3022	c.2674A>G	c.(2674-2676)Aca>Gca	p.T892A	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T892A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T892A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T367A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	892					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGAACAGGAAACAAAGAGCGT	0.453													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.0					ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2674-2676)Aca>Gca		signal-induced proliferation-associated 1 like 1							131.0	126.0	128.0					14																	72138254		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72138254A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2674A>G	14.37:g.72138254A>G	ENSP00000450832:p.Thr892Ala					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T892A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T892A|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T367A	p.T892A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	3022	+			892					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2674A>G	CCDS9807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.48	1.650539	0.29336	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.84730	-1.07;-1.06;-1.07;-1.89	6.16	6.16	0.99307	.	0.042714	0.85682	D	0.000000	T	0.76256	0.3962	N	0.16833	0.445	0.49582	D	0.999803	B;B;B;B;B	0.28880	0.042;0.226;0.093;0.069;0.008	B;B;B;B;B	0.27796	0.035;0.083;0.047;0.029;0.005	T	0.73072	-0.4098	10	0.32370	T	0.25	-20.9446	16.8061	0.85666	1.0:0.0:0.0:0.0	.	367;892;367;892;892	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	A	892;892;892;367	ENSP00000370630:T892A;ENSP00000450832:T892A;ENSP00000351352:T892A;ENSP00000440682:T367A	ENSP00000351352:T892A	T	+	1	0	SIPA1L1	71208007	1.000000	0.71417	0.997000	0.53966	0.310000	0.27922	7.442000	0.80503	2.367000	0.80283	0.528000	0.53228	ACA		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		31	56	0	0	0	1	0	31	56				
MAGEL2	54551	broad.mit.edu	37	15	23889638	23889638	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:23889638G>A	ENST00000532292.1	-	1	1537	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	364	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TATAGGCGTGGTTTTTGGTAT	0.423																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1441-1443)aaC>aaT		MAGE-like 2							91.0	85.0	87.0					15																	23889638		1891	4123	6014	SO:0001819	synonymous_variant	54551							g.chr15:23889638G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1443C>T	15.37:g.23889638G>A							p.N481N	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1537	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1443C>T		.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746750	0.03065	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.78	-0.477	0.12097	.	.	.	.	.	T	0.23249	0.0562	.	.	.	0.21416	N	0.999695	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	4.196	0.10443	0.3834:0.1678:0.4488:0.0	.	.	.	.	I	513	.	.	T	-	2	0	MAGEL2	21440731	0.170000	0.23016	0.009000	0.14445	0.146000	0.21551	0.170000	0.16663	0.044000	0.15775	0.467000	0.42956	ACC		0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		20	29	0	0	0	1	0	20	29				
CBLN3	643866	broad.mit.edu	37	14	24897110	24897110	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24897110G>T	ENST00000267406.6	-	3	973	c.503C>A	c.(502-504)tCt>tAt	p.S168Y	CBLN3_ENST00000555436.1_Missense_Mutation_p.S117Y|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	168	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CAGTAGCACAGAGCTGGTGGC	0.607																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(502-504)tCt>tAt		cerebellin 3 precursor							97.0	97.0	97.0					14																	24897110		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897110G>T	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.503C>A	14.37:g.24897110G>T	ENSP00000267406:p.Ser168Tyr					CBLN3_ENST00000555436.1_Missense_Mutation_p.S117Y	p.S168Y	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	3	973	-			168			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.503C>A	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673960	0.67928	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.78126	-1.15;-1.15	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.138755	0.33753	N	0.004596	D	0.89364	0.6694	M	0.92970	3.365	0.32725	N	0.509726	D	0.69078	0.997	D	0.64506	0.926	D	0.93239	0.6624	10	0.72032	D	0.01	-17.5112	12.8565	0.57888	0.0:0.3143:0.6857:0.0	.	168	Q6UW01	CBLN3_HUMAN	Y	168;117	ENSP00000267406:S168Y;ENSP00000450935:S117Y	ENSP00000267406:S168Y	S	-	2	0	CBLN3	23966950	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.937000	0.48979	1.355000	0.45865	0.561000	0.74099	TCT		0.607	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		28	46	1	0	2.65835e-16	1	2.91848e-16	28	46				
SDS	10993	broad.mit.edu	37	12	113836583	113836583	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113836583G>A	ENST00000257549.4	-	4	384	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	88					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GTGGTGCTGGGCACCACGATG	0.647																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(262-264)Ccc>Tcc		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						44.0	40.0	42.0					12																	113836583		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113836583G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.262C>T	12.37:g.113836583G>A	ENSP00000257549:p.Pro88Ser						p.P88S	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			4	384	-			88					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.262C>T	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073737	0.55646	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D;D	0.98249	-4.82;-4.82	4.0	4.0	0.46444	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.93638	3.44	0.43517	D	0.995788	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99044	1.0825	10	0.87932	D	0	-17.2163	15.8794	0.79193	0.0:0.0:1.0:0.0	.	88;88	Q8WW81;P20132	.;SDHL_HUMAN	S	88;88;182	ENSP00000257549:P88S;ENSP00000449061:P182S	ENSP00000449061:P182S	P	-	1	0	SDS;RP11-303O9.2	112320966	1.000000	0.71417	0.914000	0.36105	0.294000	0.27393	8.776000	0.91776	2.066000	0.61787	0.561000	0.74099	CCC		0.647	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		15	13	0	0	0	1	0	15	13				
WDR62	284403	broad.mit.edu	37	19	36594100	36594100	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36594100C>T	ENST00000270301.7	+	29	3490	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	WDR62_ENST00000401500.2_Missense_Mutation_p.R1169C			O43379	WDR62_HUMAN	WD repeat domain 62	1164					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGCCTGGCGCCCACCACG	0.682																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3505-3507)Cgc>Tgc		WD repeat domain 62							48.0	45.0	46.0					19																	36594100		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36594100C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3490C>T	19.37:g.36594100C>T	ENSP00000270301:p.Arg1164Cys					WDR62_ENST00000270301.7_Missense_Mutation_p.R1164C	p.R1169C	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		29	3540	+	Esophageal squamous(110;0.162)		1164					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3505C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187661	0.21870	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.44482	1.02;0.92	5.11	-2.74	0.05932	.	1.966960	0.02180	N	0.060421	T	0.18257	0.0438	N	0.03608	-0.345	0.23743	N	0.996963	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.11131	-1.0600	10	0.37606	T	0.19	-0.3012	2.168	0.03842	0.1501:0.405:0.1539:0.2909	.	1169;1164	O43379-4;O43379	.;WDR62_HUMAN	C	1169;1164	ENSP00000384792:R1169C;ENSP00000270301:R1164C	ENSP00000270301:R1164C	R	+	1	0	WDR62	41285940	0.000000	0.05858	0.027000	0.17364	0.063000	0.16089	-1.313000	0.02718	-0.208000	0.10171	-0.484000	0.04775	CGC		0.682	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	26	0	0	0	1	0	7	26				
EPPK1	83481	broad.mit.edu	37	8	144946589	144946589	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946589C>T	ENST00000525985.1	-	2	904	c.833G>A	c.(832-834)cGg>cAg	p.R278Q				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTAGCGCCGCACCTCGGC	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(832-834)cGg>cAg		epiplakin 1							19.0	23.0	22.0					8																	144946589		2167	4250	6417	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946589C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.833G>A	8.37:g.144946589C>T	ENSP00000436337:p.Arg278Gln						p.R278Q			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	904	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		278					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.833G>A		.	.	.	.	.	.	.	.	.	.	C	5.181	0.218977	0.09810	.	.	ENSG00000227184	ENST00000525985	T	0.67865	-0.29	4.81	-8.59	0.00893	.	.	.	.	.	T	0.48696	0.1514	L	0.28054	0.825	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.29150	-1.0021	9	0.24483	T	0.36	.	16.4726	0.84115	0.0:0.1736:0.0:0.8264	.	278	E9PPU0	.	Q	278	ENSP00000436337:R278Q	ENSP00000436337:R278Q	R	-	2	0	EPPK1	145018577	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.476000	0.06591	-1.942000	0.01040	-0.409000	0.06214	CGG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		10	11	0	0	0	1	0	10	11				
NUMA1	4926	broad.mit.edu	37	11	71725245	71725245	+	Missense_Mutation	SNP	C	C	T	rs140741340	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71725245C>T	ENST00000393695.3	-	15	3635	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1102T|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.A1102T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGCCAGATGCGTGCTCCTTT	0.577			T	RARA	APL								C|||	3	0.000599042	0.0023	0.0	5008	,	,		21629	0.0		0.0	False		,,,				2504	0.0					ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.A1102T(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3304-3306)Gca>Aca		nuclear mitotic apparatus protein 1		C	THR/ALA	8,4392	14.3+/-33.2	0,8,2192	106.0	116.0	113.0		3304	-1.4	0.0	11	dbSNP_134	113	0,8586		0,0,4293	yes	missense	NUMA1	NM_006185.2	58	0,8,6485	TT,TC,CC		0.0,0.1818,0.0616	benign	1102/2116	71725245	8,12978	2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725245C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3304G>A	11.37:g.71725245C>T	ENSP00000377298:p.Ala1102Thr					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1102T	p.A1102T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3635	-			1102						Missense_Mutation	SNP	ENST00000393695.3	37	c.3304G>A	CCDS31633.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.779	-0.482482	0.04383	0.001818	0.0	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.12774	2.65;2.65	3.94	-1.37	0.09056	.	1.874060	0.02658	N	0.107212	T	0.11922	0.0290	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.10296	0.003;0.001;0.003;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.24977	-1.0145	9	.	.	.	.	0.8624	0.01196	0.2635:0.3743:0.1285:0.2337	.	1108;586;1102;1102	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1102;1102;665;71	ENSP00000351851:A1102T;ENSP00000377298:A1102T	.	A	-	1	0	NUMA1	71402893	0.000000	0.05858	0.015000	0.15790	0.293000	0.27360	-1.273000	0.02823	-0.391000	0.07763	-0.254000	0.11334	GCA		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			44	66	0	0	0	1	0	44	66				
EEFSEC	60678	broad.mit.edu	37	3	127872522	127872522	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127872522G>A	ENST00000254730.6	+	1	226	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.V58M|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	58	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTGCTTCTCGGTGCCGCTGCC	0.711																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(172-174)Gtg>Atg		eukaryotic elongation factor, selenocysteine-tRNA-specific							9.0	12.0	11.0					3																	127872522		2181	4252	6433	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127872522G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.172G>A	3.37:g.127872522G>A	ENSP00000254730:p.Val58Met					RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.V58M	p.V58M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			1	226	+			58					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.172G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615593	0.87359	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.44083	0.93;0.93	4.26	4.26	0.50523	Protein synthesis factor, GTP-binding (1);	0.136134	0.48286	D	0.000188	T	0.59280	0.2182	M	0.73598	2.24	0.50813	D	0.999897	P;D	0.56968	0.749;0.978	P;D	0.67900	0.559;0.954	T	0.62445	-0.6853	10	0.72032	D	0.01	-8.1906	8.9668	0.35881	0.1451:0.0:0.8549:0.0	.	58;58	C9J8T0;P57772	.;SELB_HUMAN	M	58	ENSP00000254730:V58M;ENSP00000417660:V58M	ENSP00000254730:V58M	V	+	1	0	EEFSEC	129355212	0.996000	0.38824	0.998000	0.56505	0.998000	0.95712	4.238000	0.58688	2.364000	0.80123	0.585000	0.79938	GTG		0.711	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		3	8	0	0	0	1	0	3	8				
GPR45	11250	broad.mit.edu	37	2	105858688	105858688	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858688C>A	ENST00000258456.1	+	1	489	c.373C>A	c.(373-375)Ctg>Atg	p.L125M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGTGGCCATCCTGCTCATCAT	0.627																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(373-375)Ctg>Atg		G protein-coupled receptor 45							68.0	65.0	66.0					2																	105858688		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858688C>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.373C>A	2.37:g.105858688C>A	ENSP00000258456:p.Leu125Met						p.L125M	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	489	+			125					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.373C>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029656	0.75504	.	.	ENSG00000135973	ENST00000258456	T	0.80994	-1.44	5.04	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.89924	0.6856	M	0.86420	2.815	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91347	0.5101	10	0.87932	D	0	-14.8009	12.6972	0.57010	0.0:0.916:0.0:0.084	.	125	Q9Y5Y3	GPR45_HUMAN	M	125	ENSP00000258456:L125M	ENSP00000258456:L125M	L	+	1	2	GPR45	105225120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.782000	0.62396	2.337000	0.79520	0.462000	0.41574	CTG		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		15	17	1	0	4.14922e-12	1	4.48033e-12	15	17				
PIK3R2	5296	broad.mit.edu	37	19	18279701	18279701	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18279701C>T	ENST00000593731.1	+	15	2534	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	PIK3R2_ENST00000222254.8_Silent_p.S658S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	658	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACGCCTGCTCCGTGGTGTGAG	0.657																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1972-1974)tcC>tcT		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							41.0	30.0	33.0					19																	18279701		2203	4299	6502	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279701C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1974C>T	19.37:g.18279701C>T						PIK3R2_ENST00000222254.7_Silent_p.S658S	p.S658S			O00459	P85B_HUMAN			15	2534	+			658			SH2 2.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.1974C>T	CCDS12371.1																																																																																				0.657	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	3	0	0	0	1	0	3	3				
SETBP1	26040	broad.mit.edu	37	18	42643076	42643076	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42643076C>T	ENST00000282030.5	+	6	4500	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1402						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTTCAAGCGGCGGGAGATCGA	0.532									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4204-4206)Cgg>Tgg		SET binding protein 1							47.0	47.0	47.0					18																	42643076		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643076C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4204C>T	18.37:g.42643076C>T	ENSP00000282030:p.Arg1402Trp						p.R1402W	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4500	+			1402					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4204C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999582	0.54147	.	.	ENSG00000152217	ENST00000282030	T	0.70164	-0.46	5.27	4.38	0.52667	.	0.321942	0.30437	N	0.009637	T	0.51719	0.1691	L	0.29908	0.895	0.30428	N	0.777471	P	0.52842	0.956	B	0.42882	0.401	T	0.59043	-0.7528	10	0.66056	D	0.02	.	6.1708	0.20416	0.1562:0.6919:0.0:0.1519	.	1402	Q9Y6X0	SETBP_HUMAN	W	1402	ENSP00000282030:R1402W	ENSP00000282030:R1402W	R	+	1	2	SETBP1	40897074	0.960000	0.32886	1.000000	0.80357	0.991000	0.79684	0.726000	0.25984	1.297000	0.44761	0.563000	0.77884	CGG		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	29	0	0	0	1	0	4	29				
EVI2A	2123	broad.mit.edu	37	17	29645977	29645977	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29645977T>C	ENST00000462804.2	-	2	454	c.55A>G	c.(55-57)Aca>Gca	p.T19A	EVI2A_ENST00000247270.3_Missense_Mutation_p.T42A|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T19A	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	19					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AAAACTGTTGTCATCAGAAAG	0.413																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(124-126)Aca>Gca		ecotropic viral integration site 2A							203.0	193.0	196.0					17																	29645977		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645977T>C	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.55A>G	17.37:g.29645977T>C	ENSP00000420557:p.Thr19Ala					NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T19A|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.T19A|NF1_ENST00000358273.4_Intron	p.T42A	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	460	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	19					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.124A>G	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860005	0.51482	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.41	3.21	0.36854	.	0.463132	0.20808	N	0.085306	T	0.36826	0.0981	M	0.62723	1.935	0.19300	N	0.999973	B;B	0.13594	0.003;0.008	B;B	0.15484	0.013;0.007	T	0.34054	-0.9844	9	0.09084	T	0.74	.	5.329	0.15922	0.1307:0.1479:0.0:0.7214	.	19;42	P22794;P22794-2	EVI2A_HUMAN;.	A	19;15;19;42	.	ENSP00000247270:T42A	T	-	1	0	EVI2A	26670103	0.559000	0.26562	0.998000	0.56505	0.957000	0.61999	0.197000	0.17197	0.374000	0.24650	-0.290000	0.09829	ACA		0.413	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		46	99	0	0	0	1	0	46	99				
HERC2	8924	broad.mit.edu	37	15	28473394	28473394	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28473394C>T	ENST00000261609.7	-	35	5542	c.5434G>A	c.(5434-5436)Gcc>Acc	p.A1812T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCGTGAGGGCCAGCATGCCG	0.552																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5434-5436)Gcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							64.0	50.0	55.0					15																	28473394		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28473394C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5434G>A	15.37:g.28473394C>T	ENSP00000261609:p.Ala1812Thr						p.A1812T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	35	5542	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1812						Missense_Mutation	SNP	ENST00000261609.7	37	c.5434G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207402	0.79240	.	.	ENSG00000128731	ENST00000261609	T	0.40225	1.04	4.21	4.21	0.49690	.	0.119928	0.56097	D	0.000039	T	0.55800	0.1943	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.60772	-0.7197	10	0.72032	D	0.01	.	17.1056	0.86662	0.0:1.0:0.0:0.0	.	1812	O95714	HERC2_HUMAN	T	1812	ENSP00000261609:A1812T	ENSP00000261609:A1812T	A	-	1	0	HERC2	26146989	1.000000	0.71417	0.927000	0.36925	0.333000	0.28666	7.241000	0.78201	2.315000	0.78130	0.555000	0.69702	GCC		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	17	0	0	0	1	0	11	17				
ZNF525	170958	broad.mit.edu	37	19	53884645	53884645	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53884645C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Silent_p.Y271Y|ZNF525_ENST00000467003.1_Silent_p.Y235Y|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AGAAACCTTACAAGTGTAATG	0.408																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(703-705)taC>taT		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884645C>T	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884645C>T	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.Y271Y	p.Y235Y							4	906	+								Q8TF23	Silent	SNP	ENST00000355326.3	37	c.705C>T																																																																																					0.408	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		36	52	0	0	0	1	0	36	52				
AGRN	375790	broad.mit.edu	37	1	985923	985923	+	Missense_Mutation	SNP	G	G	A	rs551658645		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:985923G>A	ENST00000379370.2	+	29	5143	c.5093G>A	c.(5092-5094)cGc>cAc	p.R1698H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1698	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		R -> P. {ECO:0000269|PubMed:19631309}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTGCGGGACCGCCGCCTGGAG	0.716																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5092-5094)cGc>cAc		agrin							35.0	44.0	41.0					1																	985923		2203	4298	6501	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985923G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5093G>A	1.37:g.985923G>A	ENSP00000368678:p.Arg1698His						p.R1698H	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	29	5143	+	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;8.75e-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)|Lung SC(97;0.128)	1698			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5093G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601032	0.28534	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.75821	-0.97	4.45	2.57	0.30868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.191381	0.31760	U	0.007117	T	0.63355	0.2504	L	0.41492	1.28	0.21527	N	0.999657	B	0.20052	0.041	B	0.08055	0.003	T	0.56189	-0.8020	10	0.59425	D	0.04	-5.3363	10.2353	0.43280	0.1631:0.0:0.8369:0.0	.	1698	O00468	AGRIN_HUMAN	H	1698;37	ENSP00000368678:R1698H	ENSP00000368671:R37H	R	+	2	0	AGRN	975786	0.885000	0.30320	0.000000	0.03702	0.213000	0.24496	2.525000	0.45598	0.352000	0.24053	0.299000	0.19835	CGC		0.716	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		21	29	0	0	0	1	0	21	29				
LAMB2	3913	broad.mit.edu	37	3	49159665	49159665	+	Missense_Mutation	SNP	G	G	A	rs371490301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49159665G>A	ENST00000418109.1	-	29	4876	c.4712C>T	c.(4711-4713)gCg>gTg	p.A1571V	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.A1571V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1571	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCAGGATCGCATCCACATC	0.627																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4711-4713)gCg>gTg		laminin, beta 2 (laminin S)		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	67.0	61.0	63.0		4712	4.7	0.8	3		63	0,8600		0,0,4300	no	missense	LAMB2	NM_002292.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1571/1799	49159665	1,13005	2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159665G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4712C>T	3.37:g.49159665G>A	ENSP00000388325:p.Ala1571Val					LAMB2_ENST00000305544.4_Missense_Mutation_p.A1571V	p.A1571V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	29	4876	-			1571			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4712C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408905	0.25378	2.27E-4	0.0	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35605	1.3;1.3	5.54	4.67	0.58626	.	0.174606	0.49916	D	0.000123	T	0.30355	0.0762	L	0.43152	1.355	0.58432	D	0.999994	B	0.23937	0.094	B	0.15484	0.013	T	0.05370	-1.0889	10	0.21540	T	0.41	.	14.5854	0.68320	0.0703:0.0:0.9297:0.0	.	1571	P55268	LAMB2_HUMAN	V	1571;1571;338	ENSP00000388325:A1571V;ENSP00000307156:A1571V	ENSP00000307156:A1571V	A	-	2	0	LAMB2	49134669	0.614000	0.27017	0.775000	0.31657	0.590000	0.36582	3.431000	0.52814	1.355000	0.45865	-0.143000	0.13931	GCG		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		14	16	0	0	0	1	0	14	16				
APLF	200558	broad.mit.edu	37	2	68794512	68794512	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68794512G>A	ENST00000303795.4	+	9	1497	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	442					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GACATAATACGCTTCCAGGTA	0.284																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(1324-1326)acG>acA		aprataxin and PNKP like factor							52.0	54.0	54.0					2																	68794512		2201	4300	6501	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68794512G>A	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1326G>A	2.37:g.68794512G>A						APLF_ENST00000471727.1_3'UTR	p.T442T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			9	1497	+			442					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.1326G>A	CCDS1888.1																																																																																				0.284	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		21	30	0	0	0	1	0	21	30				
FAM20A	54757	broad.mit.edu	37	17	66538252	66538252	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66538252G>A	ENST00000592554.1	-	7	1705	c.983C>T	c.(982-984)gCt>gTt	p.A328V	AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	328					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCCACAGACAGCATACTCCGT	0.612																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(982-984)gCt>gTt		family with sequence similarity 20, member A							116.0	89.0	98.0					17																	66538252		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66538252G>A	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.983C>T	17.37:g.66538252G>A	ENSP00000468308:p.Ala328Val					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.A328V	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			7	1705	-	Breast(10;1.64e-13)		328					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.983C>T	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740316	0.96873	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86387	0.1733	9	0.59425	D	0.04	-14.0864	20.5948	0.99439	0.0:0.0:1.0:0.0	.	328	Q96MK3	FA20A_HUMAN	V	328	.	ENSP00000226094:A328V	A	-	2	0	FAM20A	64049847	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	GCT		0.612	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		16	16	0	0	0	1	0	16	16				
NOP14	8602	broad.mit.edu	37	4	2948203	2948203	+	Missense_Mutation	SNP	G	G	A	rs114205498	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2948203G>A	ENST00000314262.6	-	11	1619	c.1571C>T	c.(1570-1572)gCg>gTg	p.A524V	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A524V|NOP14_ENST00000416614.2_Missense_Mutation_p.A524V|NOP14_ENST00000398071.4_Missense_Mutation_p.A524V|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	524					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCATGCATCGCATCTCGGAG	0.478													G|||	14	0.00279553	0.0106	0.0	5008	,	,		25297	0.0		0.0	False		,,,				2504	0.0					ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(1570-1572)gCg>gTg		NOP14 nucleolar protein		G	VAL/ALA	37,4369	40.8+/-73.8	0,37,2166	117.0	111.0	113.0		1571	4.4	1.0	4	dbSNP_132	113	7,8593	5.7+/-21.5	0,7,4293	yes	missense	NOP14	NM_003703.1	64	0,44,6459	AA,AG,GG		0.0814,0.8398,0.3383	benign	524/858	2948203	44,12962	2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2948203G>A	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1571C>T	4.37:g.2948203G>A	ENSP00000315674:p.Ala524Val					NOP14_ENST00000502735.1_Missense_Mutation_p.A524V|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A524V|NOP14_ENST00000314262.6_Missense_Mutation_p.A524V|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA	p.A524V			P78316	NOP14_HUMAN			11	1636	-			524					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1571C>T	CCDS33945.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	13.51	2.257365	0.39896	0.008398	8.14E-4	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.47	4.44	0.53790	.	0.172614	0.51477	D	0.000087	T	0.18383	0.0441	L	0.40543	1.245	0.48288	D	0.999623	B;P;B	0.46621	0.314;0.881;0.443	B;B;B	0.37091	0.14;0.241;0.214	T	0.09143	-1.0688	10	0.87932	D	0	-28.6758	14.8364	0.70187	0.0826:0.0:0.9174:0.0	.	317;524;524	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	V	524;524;524;524;423	ENSP00000405068:A524V;ENSP00000315674:A524V;ENSP00000427415:A524V;ENSP00000381146:A524V	ENSP00000315674:A524V	A	-	2	0	NOP14	2918001	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.425000	0.52771	2.567000	0.86603	0.484000	0.47621	GCG		0.478	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		9	33	0	0	0	1	0	9	33				
TFAP2C	7022	broad.mit.edu	37	20	55211734	55211734	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55211734G>A	ENST00000201031.2	+	6	1234	c.991G>A	c.(991-993)Gca>Aca	p.A331T	TFAP2C_ENST00000544508.1_Missense_Mutation_p.A162T	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	331	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TAAACCAGTGGCAGAATATTT	0.438																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(991-993)Gca>Aca		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							144.0	124.0	131.0					20																	55211734		2203	4300	6503	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55211734G>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.991G>A	20.37:g.55211734G>A	ENSP00000201031:p.Ala331Thr					TFAP2C_ENST00000544508.1_Missense_Mutation_p.A162T	p.A331T	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		6	1234	+			331			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.991G>A	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652917	0.96724	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.97505	-4.41;-4.41	5.56	5.56	0.83823	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99560	1.0968	10	0.87932	D	0	-22.9166	19.6143	0.95626	0.0:0.0:1.0:0.0	.	331	Q92754	AP2C_HUMAN	T	331;162	ENSP00000201031:A331T;ENSP00000442274:A162T	ENSP00000201031:A331T	A	+	1	0	TFAP2C	54645141	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.493000	0.81493	2.632000	0.89209	0.586000	0.80456	GCA		0.438	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		21	38	0	0	0	1	0	21	38				
MFHAS1	9258	broad.mit.edu	37	8	8747722	8747722	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8747722T>C	ENST00000276282.6	-	1	3433	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	949										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ATATATTTGGTAATGATGCAT	0.517																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2845-2847)ttA>ttG		malignant fibrous histiocytoma amplified sequence 1							100.0	96.0	97.0					8																	8747722		2203	4300	6503	SO:0001819	synonymous_variant	9258							g.chr8:8747722T>C	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2847A>G	8.37:g.8747722T>C							p.L949L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3433	-		Hepatocellular(245;0.217)	949					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.2847A>G	CCDS34844.1																																																																																				0.517	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		11	53	0	0	0	1	0	11	53				
KBTBD3	143879	broad.mit.edu	37	11	105925166	105925166	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105925166T>C	ENST00000526793.1	-	3	409	c.250A>G	c.(250-252)Aac>Gac	p.N84D	KBTBD3_ENST00000534815.1_Missense_Mutation_p.N5D|KBTBD3_ENST00000531837.1_Missense_Mutation_p.N84D	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTTTCATGTTTACTTCAAAC	0.303																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(250-252)Aac>Gac		kelch repeat and BTB (POZ) domain containing 3							46.0	46.0	46.0					11																	105925166		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105925166T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.250A>G	11.37:g.105925166T>C	ENSP00000436262:p.Asn84Asp					KBTBD3_ENST00000531837.1_Missense_Mutation_p.N84D|KBTBD3_ENST00000534815.1_Missense_Mutation_p.N5D	p.N84D	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	409	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	80			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.250A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	0.535	-0.856234	0.02630	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837;ENST00000532662	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.36	4.24	0.50183	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.088451	0.85682	D	0.000000	T	0.41073	0.1143	N	0.03224	-0.385	0.33061	D	0.534118	B;B	0.09022	0.001;0.002	B;B	0.10450	0.001;0.005	T	0.44772	-0.9306	10	0.02654	T	1	.	10.5973	0.45345	0.0:0.075:0.0:0.925	.	84;80	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	D	5;84;84;5	ENSP00000431910:N5D;ENSP00000436262:N84D;ENSP00000432163:N84D;ENSP00000433493:N5D	ENSP00000436262:N84D	N	-	1	0	KBTBD3	105430376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.740000	0.55082	2.033000	0.60031	0.528000	0.53228	AAC		0.303	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		15	18	0	0	0	1	0	15	18				
CAMK4	814	broad.mit.edu	37	5	110782460	110782460	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110782460C>T	ENST00000282356.4	+	6	934	c.536C>T	c.(535-537)gCa>gTa	p.A179V	CAMK4_ENST00000512453.1_Missense_Mutation_p.A179V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCCCCAGATGCACCACTCAAA	0.363																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(535-537)gCa>gTa		calcium/calmodulin-dependent protein kinase IV							120.0	113.0	115.0					5																	110782460		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110782460C>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.536C>T	5.37:g.110782460C>T	ENSP00000282356:p.Ala179Val					CAMK4_ENST00000512453.1_Missense_Mutation_p.A179V	p.A179V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	6	934	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	179			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.536C>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109919	0.94292	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.49139	0.79;0.79	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	L	0.35854	1.095	0.80722	D	1	D	0.67145	0.996	D	0.69142	0.962	T	0.62058	-0.6934	10	0.87932	D	0	.	18.816	0.92077	0.0:1.0:0.0:0.0	.	179	Q16566	KCC4_HUMAN	V	179	ENSP00000422634:A179V;ENSP00000282356:A179V	ENSP00000282356:A179V	A	+	2	0	CAMK4	110810359	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.298000	0.72763	2.801000	0.96364	0.650000	0.86243	GCA		0.363	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		19	31	0	0	0	1	0	19	31				
SP140L	93349	broad.mit.edu	37	2	231264929	231264929	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231264929T>C	ENST00000415673.2	+	15	1371	c.1285T>C	c.(1285-1287)Tgc>Cgc	p.C429R	SP140L_ENST00000396563.4_Missense_Mutation_p.C394R|SP140L_ENST00000243810.6_Missense_Mutation_p.C429R|SP140L_ENST00000444636.1_Missense_Mutation_p.C429R	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	429						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCATGAGGACTGCCACATCCC	0.517																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1285-1287)Tgc>Cgc		SP140 nuclear body protein-like							140.0	146.0	144.0					2																	231264929		2098	4242	6340	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264929T>C	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1285T>C	2.37:g.231264929T>C	ENSP00000397911:p.Cys429Arg					SP140L_ENST00000415673.2_Missense_Mutation_p.C429R|SP140L_ENST00000396563.4_Missense_Mutation_p.C394R|SP140L_ENST00000444636.1_Missense_Mutation_p.C429R	p.C429R			Q9H930	LY10L_HUMAN			15	1285	+			429					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1285T>C	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	T	9.731	1.162386	0.21538	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.99930	-8.15;-8.15;-8.15;-8.15	3.33	3.33	0.38152	.	.	.	.	.	D	0.99928	0.9967	H	0.96430	3.82	0.39665	D	0.970661	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96291	0.9214	9	0.87932	D	0	.	8.2875	0.31937	0.0:0.0:0.0:1.0	.	394;429	Q9H930-2;Q9H930-4	.;.	R	429;429;429;394	ENSP00000395195:C429R;ENSP00000397911:C429R;ENSP00000243810:C429R;ENSP00000379811:C394R	ENSP00000243810:C429R	C	+	1	0	SP140L	230973173	0.965000	0.33210	0.085000	0.20634	0.028000	0.11728	3.571000	0.53841	1.518000	0.48934	0.260000	0.18958	TGC		0.517	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		13	17	0	0	0	1	0	13	17				
OR9A4	130075	broad.mit.edu	37	7	141619474	141619474	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141619474G>A	ENST00000548136.1	+	1	858	c.799G>A	c.(799-801)Gca>Aca	p.A267T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCAAACGCAGGCAGCTGATTA	0.483																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(799-801)Gca>Aca		olfactory receptor, family 9, subfamily A, member 4							74.0	78.0	77.0					7																	141619474		2202	4300	6502	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619474G>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.799G>A	7.37:g.141619474G>A	ENSP00000448789:p.Ala267Thr					MGAM_ENST00000497554.1_Intron	p.A267T	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	858	+	Melanoma(164;0.0171)		267					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.799G>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413630	0.25465	.	.	ENSG00000258083	ENST00000548136	T	0.00145	8.67	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B	0.21452	0.056	B	0.29267	0.1	T	0.12889	-1.0530	9	0.18276	T	0.48	-8.9754	7.4075	0.27000	0.1188:0.0:0.8812:0.0	.	267	Q8NGU2	OR9A4_HUMAN	T	267	ENSP00000448789:A267T	ENSP00000386148:A267T	A	+	1	0	OR9A4	141265943	0.000000	0.05858	0.907000	0.35723	0.085000	0.17905	-0.402000	0.07223	2.121000	0.65114	0.655000	0.94253	GCA		0.483	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		20	29	0	0	0	1	0	20	29				
TNXB	7148	broad.mit.edu	37	6	32015602	32015602	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32015602C>A	ENST00000375244.3	-	30	10434	c.10233G>T	c.(10231-10233)caG>caT	p.Q3411H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q3409H|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3456	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCAGGCCCTGGACTGTGA	0.602																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10231-10233)caG>caT		tenascin XB							28.0	35.0	32.0					6																	32015602		1387	2618	4005	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015602C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10233G>T	6.37:g.32015602C>A	ENSP00000364393:p.Gln3411His					TNXB_ENST00000375247.2_Missense_Mutation_p.Q3409H	p.Q3411H			P22105	TENX_HUMAN			30	10434	-			3456			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10233G>T		.	.	.	.	.	.	.	.	.	.	C	1.204	-0.631538	0.03584	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.76	-9.51	0.00581	.	1.249250	0.05672	N	0.588890	T	0.08044	0.0201	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04053	-1.0981	10	0.42905	T	0.14	.	0.509	0.00592	0.2409:0.2584:0.1538:0.3468	.	3409	P22105-3	.	H	3411;3409	ENSP00000364393:Q3411H;ENSP00000364396:Q3409H	ENSP00000364393:Q3411H	Q	-	3	2	TNXB	32123580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.728000	0.00193	-3.450000	0.00161	-2.582000	0.00168	CAG		0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	14	1	0	7.48243e-07	1	7.8103e-07	10	14				
E4F1	1877	broad.mit.edu	37	16	2284279	2284279	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2284279G>A	ENST00000301727.4	+	10	1531	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	E4F1_ENST00000564139.1_Missense_Mutation_p.D495N|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	495	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCGCTGTGGCGACTGCGGGAA	0.657																																						ENST00000301727.4																			0				ovary(1)	1						c.(1483-1485)Gac>Aac		E4F transcription factor 1							59.0	62.0	61.0					16																	2284279		2196	4299	6495	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284279G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1483G>A	16.37:g.2284279G>A	ENSP00000301727:p.Asp495Asn					E4F1_ENST00000564139.1_Missense_Mutation_p.D495N|E4F1_ENST00000565090.1_Intron	p.D495N	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			10	1531	+			495			Interaction with BMI1.|Mediates interaction with CDKN2A.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.1483G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582627	0.65992	.	.	ENSG00000167967	ENST00000301727	T	0.35973	1.28	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046228	0.85682	D	0.000000	T	0.30823	0.0777	N	0.25060	0.705	0.41501	D	0.988287	D	0.53151	0.958	B	0.43680	0.427	T	0.17410	-1.0370	10	0.62326	D	0.03	-44.501	17.1139	0.86683	0.0:0.0:1.0:0.0	.	495	Q66K89	E4F1_HUMAN	N	495	ENSP00000301727:D495N	ENSP00000301727:D495N	D	+	1	0	E4F1	2224280	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.494000	0.66905	2.386000	0.81285	0.549000	0.68633	GAC		0.657	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		14	21	0	0	0	1	0	14	21				
SZT2	23334	broad.mit.edu	37	1	43896378	43896378	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43896378G>A	ENST00000562955.1	+	31	4521	c.4521G>A	c.(4519-4521)ccG>ccA	p.P1507P	SZT2_ENST00000372442.1_Silent_p.P665P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1564					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACCTGCCACCGCTCTTCCTGC	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4519-4521)ccG>ccA		seizure threshold 2 homolog (mouse)							131.0	136.0	135.0					1																	43896378		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43896378G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4521G>A	1.37:g.43896378G>A						SZT2_ENST00000372442.1_Silent_p.P665P	p.P1507P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			31	4521	+			1564					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.4521G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		47	90	0	0	0	1	0	47	90				
ZNF506	440515	broad.mit.edu	37	19	19905509	19905509	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19905509G>A	ENST00000540806.2	-	4	1275	c.1187C>T	c.(1186-1188)cCg>cTg	p.P396L	ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.P364L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.P396L			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTGTACGGTTTCTCTCC	0.373																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(1186-1188)cCg>cTg		zinc finger protein 506							61.0	65.0	63.0					19																	19905509		2131	4269	6400	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905509G>A	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1187C>T	19.37:g.19905509G>A	ENSP00000440625:p.Pro396Leu					ZNF506_ENST00000540806.2_Missense_Mutation_p.P396L|ZNF506_ENST00000450683.2_Missense_Mutation_p.P364L|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron	p.P396L			Q5JVG8	ZN506_HUMAN			4	1334	-			396					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1187C>T	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	14.30	2.495538	0.44352	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.17054	2.3;2.3;2.3	1.01	1.01	0.19927	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33556	0.0867	M	0.72576	2.205	0.49051	D	0.999743	D;D	0.89917	0.976;1.0	P;D	0.69654	0.604;0.965	T	0.06643	-1.0815	9	0.62326	D	0.03	.	7.4069	0.26995	0.0:0.0:1.0:0.0	.	396;364	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	L	396;396;364	ENSP00000393835:P396L;ENSP00000440625:P396L;ENSP00000408892:P364L	ENSP00000393835:P396L	P	-	2	0	ZNF506	19766509	0.999000	0.42202	0.008000	0.14137	0.008000	0.06430	3.838000	0.55828	0.430000	0.26230	0.430000	0.28490	CCG		0.373	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		29	44	0	0	0	1	0	29	44				
GOT1L1	137362	broad.mit.edu	37	8	37794824	37794824	+	Missense_Mutation	SNP	C	C	T	rs367552836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37794824C>T	ENST00000307599.4	-	4	589	c.490G>A	c.(490-492)Gac>Aac	p.D164N	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	164					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATGTCGGGGTCCATGCATAGC	0.547																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(490-492)Gac>Aac		glutamic-oxaloacetic transaminase 1-like 1							48.0	47.0	48.0					8																	37794824		1881	4103	5984	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794824C>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.490G>A	8.37:g.37794824C>T	ENSP00000303077:p.Asp164Asn						p.D164N	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		4	589	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	164					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.490G>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557785	0.65425	.	.	ENSG00000169154	ENST00000307599	D	0.94417	-3.42	5.04	3.15	0.36227	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.497073	0.20173	N	0.097690	D	0.91958	0.7453	L	0.53780	1.695	0.09310	N	0.999992	B	0.32526	0.374	B	0.38655	0.278	D	0.84390	0.0554	10	0.42905	T	0.14	-8.9892	6.9706	0.24646	0.0:0.7723:0.0:0.2277	.	164	Q8NHS2	AATC2_HUMAN	N	164	ENSP00000303077:D164N	ENSP00000303077:D164N	D	-	1	0	GOT1L1	37913981	0.102000	0.21896	0.042000	0.18584	0.411000	0.31082	1.496000	0.35638	0.476000	0.27440	0.549000	0.68633	GAC		0.547	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		4	11	0	0	0	1	0	4	11				
MED26	9441	broad.mit.edu	37	19	16687166	16687166	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16687166C>T	ENST00000263390.3	-	3	1737	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	492					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GCTGCTCTGCCGGCTCAGGTA	0.627																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1474-1476)cGg>cAg		mediator complex subunit 26							82.0	70.0	74.0					19																	16687166		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687166C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1475G>A	19.37:g.16687166C>T	ENSP00000263390:p.Arg492Gln					CTD-3222D19.2_ENST00000409035.1_Intron	p.R492Q	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1737	-			492					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1475G>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919345	0.52546	.	.	ENSG00000105085	ENST00000263390	T	0.44083	0.93	5.14	4.09	0.47781	.	0.132195	0.49916	D	0.000136	T	0.35653	0.0939	L	0.48362	1.52	0.34088	D	0.660362	B	0.18863	0.031	B	0.10450	0.005	T	0.43861	-0.9365	10	0.25751	T	0.34	-20.0521	13.4566	0.61201	0.0:0.9231:0.0:0.0769	.	492	O95402	MED26_HUMAN	Q	492	ENSP00000263390:R492Q	ENSP00000263390:R492Q	R	-	2	0	MED26	16548166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.259000	0.51515	1.298000	0.44778	0.585000	0.79938	CGG		0.627	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		15	26	0	0	0	1	0	15	26				
ERCC1	2067	broad.mit.edu	37	19	45923631	45923631	+	Missense_Mutation	SNP	C	C	T	rs374992813		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45923631C>T	ENST00000300853.3	-	4	967	c.376G>A	c.(376-378)Gta>Ata	p.V126I	ERCC1_ENST00000013807.5_Missense_Mutation_p.V126I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V126I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V126I|ERCC1_ENST00000423698.2_Missense_Mutation_p.V54I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V126I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	126					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TCGGGAATTACGTCGCCAAAT	0.607								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(376-378)Gta>Ata	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	109.0	83.0	92.0		376,376,376	4.2	0.0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	126/274,126/298,126/324	45923631	1,13005	2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45923631C>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.376G>A	19.37:g.45923631C>T	ENSP00000300853:p.Val126Ile					ERCC1_ENST00000423698.2_Missense_Mutation_p.V54I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V126I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V126I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V126I|ERCC1_ENST00000013807.5_Missense_Mutation_p.V126I	p.V126I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	4	967	-		Ovarian(192;0.051)|all_neural(266;0.112)	126					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.376G>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	2.312	-0.357571	0.05138	0.0	1.16E-4	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	T;T;T;T	0.35973	1.33;1.32;1.28;1.33	5.28	4.18	0.49190	Restriction endonuclease, type II-like (1);	0.135403	0.50627	D	0.000115	T	0.08626	0.0214	N	0.00859	-1.14	0.27297	N	0.9577	B;B;B;B	0.22080	0.064;0.002;0.032;0.017	B;B;B;B	0.11329	0.006;0.001;0.002;0.003	T	0.37663	-0.9696	10	0.02654	T	1	-12.33	5.9127	0.19037	0.0:0.8341:0.0:0.1659	.	126;54;126;126	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	I	126;126;54;126	ENSP00000300853:V126I;ENSP00000345203:V126I;ENSP00000394875:V54I;ENSP00000013807:V126I	ENSP00000013807:V126I	V	-	1	0	ERCC1	50615471	0.969000	0.33509	0.020000	0.16555	0.487000	0.33371	2.263000	0.43293	2.489000	0.83994	0.455000	0.32223	GTA		0.607	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		13	25	0	0	0	1	0	13	25				
TSC2	7249	broad.mit.edu	37	16	2120463	2120463	+	Missense_Mutation	SNP	C	C	A	rs137854119		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2120463C>A	ENST00000219476.3	+	17	2353	c.1723C>A	c.(1723-1725)Ctg>Atg	p.L575M	TSC2_ENST00000439673.2_Missense_Mutation_p.L538M|TSC2_ENST00000382538.6_Missense_Mutation_p.L526M|TSC2_ENST00000568454.1_Missense_Mutation_p.L586M|TSC2_ENST00000350773.4_Missense_Mutation_p.L575M|TSC2_ENST00000353929.4_Missense_Mutation_p.L575M|TSC2_ENST00000401874.2_Missense_Mutation_p.L575M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	575					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCAGACCAAGCTGTACACCCT	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1723-1725)Ctg>Atg		tuberous sclerosis 2							95.0	69.0	78.0					16																	2120463		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2120463C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1723C>A	16.37:g.2120463C>A	ENSP00000219476:p.Leu575Met					TSC2_ENST00000353929.4_Missense_Mutation_p.L575M|TSC2_ENST00000350773.4_Missense_Mutation_p.L575M|TSC2_ENST00000568454.1_Missense_Mutation_p.L586M|TSC2_ENST00000439673.2_Missense_Mutation_p.L538M|TSC2_ENST00000382538.6_Missense_Mutation_p.L526M|TSC2_ENST00000401874.2_Missense_Mutation_p.L575M	p.L575M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			17	2353	+		Hepatocellular(780;0.0202)	575					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1723C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333207	0.81801	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.51	5.51	0.81932	Tuberin-type domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	L	0.53561	1.675	0.80722	D	1	D;D;P;D;D;D	0.76494	0.969;0.999;0.925;0.999;0.986;0.999	P;D;P;D;P;D	0.91635	0.897;0.983;0.661;0.999;0.849;0.997	D	0.94707	0.7888	10	0.49607	T	0.09	-19.5401	19.4153	0.94694	0.0:1.0:0.0:0.0	.	526;538;575;575;575;575	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	M	575;575;575;538;526;575	ENSP00000219476:L575M;ENSP00000384468:L575M;ENSP00000248099:L575M;ENSP00000399232:L538M;ENSP00000371978:L526M;ENSP00000344383:L575M	ENSP00000219476:L575M	L	+	1	2	TSC2	2060464	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.010000	0.70753	2.595000	0.87683	0.561000	0.74099	CTG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	22	1	0	5.50884e-06	1	5.70893e-06	12	22				
KDM2B	84678	broad.mit.edu	37	12	121947469	121947469	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:121947469G>A	ENST00000377071.4	-	11	1620	c.1548C>T	c.(1546-1548)ggC>ggT	p.G516G	KDM2B_ENST00000536437.1_Silent_p.G399G|KDM2B_ENST00000538046.2_Silent_p.G426G|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Silent_p.G485G	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	516					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCTTTCAGGCCCTTCAGTT	0.602																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1453-1455)ggC>ggT		lysine (K)-specific demethylase 2B							68.0	71.0	70.0					12																	121947469		1907	4122	6029	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947469G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1548C>T	12.37:g.121947469G>A						KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Silent_p.G426G|KDM2B_ENST00000536437.1_Silent_p.G399G|KDM2B_ENST00000377071.4_Silent_p.G516G	p.G485G	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			11	1861	-			516					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.1455C>T	CCDS41850.1																																																																																				0.602	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		14	18	0	0	0	1	0	14	18				
C5	727	broad.mit.edu	37	9	123812539	123812539	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123812539G>T	ENST00000223642.1	-	0	15					NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GGAGGTAGCAGGAAACCACGG	0.373																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								complement component 5	Eculizumab(DB01257)						107.0	109.0	109.0					9																	123812539		2203	4300	6503			727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123812539G>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579		9.37:g.123812539G>T								NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	0	15	-								Q14CJ0|Q27I61	Translation_Start_Site	SNP	ENST00000223642.1	37		CCDS6826.1																																																																																				0.373	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		32	43	1	0	1.36615e-20	1	1.51493e-20	32	43				
WDR62	284403	broad.mit.edu	37	19	36594432	36594432	+	Silent	SNP	C	C	T	rs143638774		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36594432C>T	ENST00000270301.7	+	30	3687	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L	WDR62_ENST00000401500.2_Silent_p.L1234L			O43379	WDR62_HUMAN	WD repeat domain 62	1229					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCATCTCCCTCGGTGACAGTG	0.667																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3700-3702)ctC>ctT		WD repeat domain 62		C	,	1,4405	2.1+/-5.4	0,1,2202	78.0	71.0	73.0		3702,3687	-9.2	0.0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR62	NM_001083961.1,NM_173636.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	1234/1524,1229/1519	36594432	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36594432C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3687C>T	19.37:g.36594432C>T						WDR62_ENST00000270301.7_Silent_p.L1229L	p.L1234L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	3737	+	Esophageal squamous(110;0.162)		1229					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.3702C>T	CCDS33001.1																																																																																				0.667	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		16	35	0	0	0	1	0	16	35				
ZNF655	79027	broad.mit.edu	37	7	99171035	99171035	+	Missense_Mutation	SNP	C	C	T	rs553236171		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99171035C>T	ENST00000394163.2	+	3	1487	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.S435L|ZNF655_ENST00000424881.1_Missense_Mutation_p.S470L|ZNF655_ENST00000493277.1_Missense_Mutation_p.S470L|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	435					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAAGAGAAATCGTATGAATGT	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23739	0.0		0.0	False		,,,				2504	0.0					ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1408-1410)tCg>tTg		zinc finger protein 655							122.0	119.0	120.0					7																	99171035		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99171035C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1304C>T	7.37:g.99171035C>T	ENSP00000377718:p.Ser435Leu					ZNF655_ENST00000394163.2_Missense_Mutation_p.S435L|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.S470L|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S435L	p.S470L	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1629	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		435					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1409C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172947	0.38413	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.28	3.38	0.38709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.425559	0.17544	N	0.170408	T	0.16128	0.0388	N	0.19112	0.55	0.80722	D	1	B;B	0.19445	0.036;0.021	B;B	0.14023	0.01;0.003	T	0.06881	-1.0802	10	0.62326	D	0.03	0.1822	9.4671	0.38820	0.0:0.8937:0.0:0.1063	.	470;435	Q8N720-3;Q8N720	.;ZN655_HUMAN	L	435;470;470;435	ENSP00000252713:S435L;ENSP00000419135:S470L;ENSP00000393876:S470L;ENSP00000377718:S435L	ENSP00000252713:S435L	S	+	2	0	ZNF655	99008971	0.728000	0.28080	0.418000	0.26571	0.350000	0.29205	2.496000	0.45346	2.336000	0.79503	0.561000	0.74099	TCG		0.398	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		25	42	0	0	0	1	0	25	42				
SPEN	23013	broad.mit.edu	37	1	16264445	16264445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16264445G>A	ENST00000375759.3	+	13	10852	c.10648G>A	c.(10648-10650)Gcc>Acc	p.A3550T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3550	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTAAGGATCGCCCAGAGGAT	0.622																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10648-10650)Gcc>Acc		spen family transcriptional repressor							63.0	61.0	62.0					1																	16264445		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264445G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10648G>A	1.37:g.16264445G>A	ENSP00000364912:p.Ala3550Thr						p.A3550T	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10852	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3550			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10648G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951378	0.73787	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.3	4.38	0.52667	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.20170	0.0485	L	0.35723	1.085	0.48975	D	0.999737	D	0.64830	0.994	D	0.65987	0.94	T	0.04767	-1.0928	9	0.12103	T	0.63	-16.9394	16.2913	0.82755	0.0:0.1328:0.8672:0.0	.	3550	Q96T58	MINT_HUMAN	T	3550	ENSP00000364912:A3550T	ENSP00000364912:A3550T	A	+	1	0	SPEN	16137032	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.358000	0.97109	1.347000	0.45714	0.655000	0.94253	GCC		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		15	24	0	0	0	1	0	15	24				
ZNF594	84622	broad.mit.edu	37	17	5085329	5085329	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5085329G>T	ENST00000399604.4	-	1	2363	c.2223C>A	c.(2221-2223)acC>acA	p.T741T	ZNF594_ENST00000575779.1_Silent_p.T741T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTTGCTGAAGGTTTTCTCAC	0.443																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2221-2223)acC>acA		zinc finger protein 594							207.0	213.0	211.0					17																	5085329		2084	4234	6318	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085329G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2223C>A	17.37:g.5085329G>T						ZNF594_ENST00000575779.1_Silent_p.T741T	p.T741T			Q96JF6	ZN594_HUMAN			1	2363	-			741					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.2223C>A	CCDS42241.1																																																																																				0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		48	107	1	0	2.56175e-15	1	2.80342e-15	48	107				
DTD1	92675	broad.mit.edu	37	20	18724893	18724893	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18724893G>A	ENST00000377452.3	+	5	807	c.627G>A	c.(625-627)ccG>ccA	p.P209P		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	209					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						AACGGGAGCCGTAGCTCAGGA	0.547																																						ENST00000377452.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(625-627)ccG>ccA		D-tyrosyl-tRNA deacylase 1							55.0	48.0	50.0					20																	18724893		2203	4300	6503	SO:0001819	synonymous_variant	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18724893G>A	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.627G>A	20.37:g.18724893G>A							p.P209P	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN			5	807	+			209					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	c.627G>A	CCDS13138.1																																																																																				0.547	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		15	11	0	0	0	1	0	15	11				
HDAC2	3066	broad.mit.edu	37	6	114267235	114267235	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:114267235G>T	ENST00000519065.1	-	9	1295	c.919C>A	c.(919-921)Cgt>Agt	p.R307S	HDAC2_ENST00000519108.1_Missense_Mutation_p.R277S|HDAC2_ENST00000398283.2_Missense_Mutation_p.R401S|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277S			Q92769	HDAC2_HUMAN	histone deacetylase 2	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCAACATTACGGATTGTGTAG	0.378																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(919-921)Cgt>Agt		histone deacetylase 2	Vorinostat(DB02546)						149.0	144.0	146.0					6																	114267235		1952	4132	6084	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114267235G>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.919C>A	6.37:g.114267235G>T	ENSP00000430432:p.Arg307Ser					HDAC2_ENST00000519108.1_Missense_Mutation_p.R277S|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277S|HDAC2_ENST00000398283.2_Missense_Mutation_p.R401S	p.R307S			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1295	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	307			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.919C>A	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793054	0.70452	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.98	5.98	0.97165	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	T	0.69584	0.3127	M	0.73319	2.225	0.58432	D	0.999998	P;D	0.56287	0.772;0.975	B;P	0.52424	0.194;0.698	T	0.73260	-0.4039	10	0.66056	D	0.02	-13.7078	15.2004	0.73132	0.0:0.0:0.8592:0.1408	.	277;307	B3KRS5;Q92769	.;HDAC2_HUMAN	S	307;401;277;277	ENSP00000430432:R307S;ENSP00000381331:R401S;ENSP00000430008:R277S;ENSP00000357621:R277S	ENSP00000357621:R277S	R	-	1	0	HDAC2	114373928	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	6.459000	0.73513	2.838000	0.97847	0.591000	0.81541	CGT		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			36	52	1	0	2.38352e-08	1	2.51487e-08	36	52				
ZFPM2	23414	broad.mit.edu	37	8	106814712	106814712	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:106814712C>T	ENST00000407775.2	+	8	2652	c.2402C>T	c.(2401-2403)aCt>aTt	p.T801I	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T532I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T669I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	801					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACTTGGAAACTTCTCTGACG	0.448																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2401-2403)aCt>aTt		zinc finger protein, FOG family member 2							55.0	53.0	54.0					8																	106814712		1918	4145	6063	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814712C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2402C>T	8.37:g.106814712C>T	ENSP00000384179:p.Thr801Ile					ZFPM2_ENST00000378472.4_Missense_Mutation_p.T532I|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T669I|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T801I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2652	+			801					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2402C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104642	0.56291	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20332	2.08;2.51;2.51;3.72	5.72	5.72	0.89469	.	0.091405	0.85682	D	0.000000	T	0.17365	0.0417	N	0.22421	0.69	0.58432	D	0.999997	P	0.38922	0.651	B	0.33521	0.165	T	0.02404	-1.1164	10	0.59425	D	0.04	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	801	Q8WW38	FOG2_HUMAN	I	801;669;669;532	ENSP00000384179:T801I;ENSP00000430757:T669I;ENSP00000428720:T669I;ENSP00000367733:T532I	ENSP00000367733:T532I	T	+	2	0	ZFPM2	106883888	1.000000	0.71417	0.958000	0.39756	0.969000	0.65631	7.487000	0.81328	2.708000	0.92522	0.561000	0.74099	ACT		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	18	0	0	0	1	0	7	18				
KMT2C	58508	broad.mit.edu	37	7	151836804	151836804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151836804G>A	ENST00000262189.6	-	56	14634	c.14416C>T	c.(14416-14418)Cga>Tga	p.R4806*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4863*|KMT2C_ENST00000485655.2_Nonsense_Mutation_p.R11*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4806	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTTCGTTTCGAATGATAGTC	0.463																																						ENST00000355193.2																			0											c.(14587-14589)Cga>Tga		lysine (K)-specific methyltransferase 2C							282.0	213.0	236.0					7																	151836804		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151836804G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14416C>T	7.37:g.151836804G>A	ENSP00000262189:p.Arg4806*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R4806*|KMT2C_ENST00000485655.2_Nonsense_Mutation_p.R11*	p.R4863*							57	14805	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.14587C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	55|55	24.962231|24.962231	0.99963|0.99963	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.68|4.68	2.88|2.88	0.33553|0.33553	.|.	0.000000|.	0.38272|.	U|.	0.001748|.	.|T	.|0.52917	.|0.1764	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60682	.|-0.7215	.|3	0.02654|.	T|.	1|.	.|.	10.5217|10.5217	0.44922|0.44922	0.1588:0.0:0.8412:0.0|0.1588:0.0:0.8412:0.0	.|.	.|.	.|.	.|.	X|L	4806;4863;11;1419|2362	.|.	ENSP00000262189:R4806X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151467737|151467737	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.465000|0.465000	0.32709|0.32709	5.607000|5.607000	0.67648|0.67648	0.526000|0.526000	0.28541|0.28541	-0.126000|-0.126000	0.14955|0.14955	CGA|TCG		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			26	44	0	0	0	1	0	26	44				
CORO2A	7464	broad.mit.edu	37	9	100897161	100897161	+	Missense_Mutation	SNP	G	G	A	rs368954246	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100897161G>A	ENST00000343933.5	-	4	652	c.395C>T	c.(394-396)gCg>gTg	p.A132V	CORO2A_ENST00000375077.4_Missense_Mutation_p.A132V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TACTCTGCGCGCGTGGCCCAC	0.602													G|||	5	0.000998403	0.0	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.0051					ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(394-396)gCg>gTg		coronin, actin binding protein, 2A		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	76.0	66.0	69.0		395,395	3.5	0.0	9		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CORO2A	NM_052820.3,NM_003389.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	132/526,132/526	100897161	1,13005	2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897161G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.395C>T	9.37:g.100897161G>A	ENSP00000343746:p.Ala132Val					CORO2A_ENST00000375077.4_Missense_Mutation_p.A132V	p.A132V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	652	-		Acute lymphoblastic leukemia(62;0.0559)	132					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.395C>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195269	0.22037	0.0	1.16E-4	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.60171	0.21;0.21	5.37	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.680005	0.15582	N	0.254886	T	0.43255	0.1239	L	0.28115	0.83	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32824	-0.9892	10	0.41790	T	0.15	-2.5501	10.4382	0.44448	0.0749:0.1338:0.7913:0.0	.	132	Q92828	COR2A_HUMAN	V	132	ENSP00000343746:A132V;ENSP00000364218:A132V	ENSP00000343746:A132V	A	-	2	0	CORO2A	99936982	0.000000	0.05858	0.003000	0.11579	0.110000	0.19582	0.460000	0.21924	1.513000	0.48852	-0.143000	0.13931	GCG		0.602	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		7	7	0	0	0	1	0	7	7				
ABCG4	64137	broad.mit.edu	37	11	119031662	119031662	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119031662G>A	ENST00000449422.2	+	15	1975	c.1787G>A	c.(1786-1788)cGc>cAc	p.R596H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R596H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R596H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	596	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R596H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTAGAGGAACGCTGCCCGTTC	0.557																																						ENST00000307417.3																			1	Substitution - Missense(1)	p.R596H(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1786-1788)cGc>cAc		ATP-binding cassette, sub-family G (WHITE), member 4							107.0	94.0	99.0					11																	119031662		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031662G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1787G>A	11.37:g.119031662G>A	ENSP00000406874:p.Arg596His					ABCG4_ENST00000531739.1_Missense_Mutation_p.R596H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R596H	p.R596H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2151	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	596			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1787G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603853	0.28534	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.41065	1.01;1.01;1.01	5.55	-8.14	0.01069	.	1.146220	0.06001	N	0.647769	T	0.21227	0.0511	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22347	-1.0219	10	0.45353	T	0.12	-0.9795	4.4276	0.11511	0.5757:0.1629:0.142:0.1194	.	596	Q9H172	ABCG4_HUMAN	H	596	ENSP00000304111:R596H;ENSP00000406874:R596H;ENSP00000434318:R596H	ENSP00000304111:R596H	R	+	2	0	ABCG4	118536872	0.000000	0.05858	0.001000	0.08648	0.664000	0.39144	0.520000	0.22878	-1.323000	0.02275	-0.136000	0.14681	CGC		0.557	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		17	18	0	0	0	1	0	17	18				
CSE1L	1434	broad.mit.edu	37	20	47706244	47706244	+	Silent	SNP	C	C	T	rs369869448		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47706244C>T	ENST00000262982.2	+	19	2265	c.2142C>T	c.(2140-2142)cgC>cgT	p.R714R	CSE1L_ENST00000542325.1_Silent_p.R497R|CSE1L_ENST00000396192.3_Silent_p.R658R	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTAGAACGCGGTTCAAACA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.001					ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2140-2142)cgC>cgT		CSE1 chromosome segregation 1-like (yeast)							73.0	74.0	74.0					20																	47706244		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706244C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2142C>T	20.37:g.47706244C>T						CSE1L_ENST00000396192.3_Silent_p.R658R|CSE1L_ENST00000542325.1_Silent_p.R497R	p.R714R	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2265	+			714					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.2142C>T	CCDS13412.1																																																																																				0.423	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		12	48	0	0	0	1	0	12	48				
ZNF839	55778	broad.mit.edu	37	14	102792778	102792778	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102792778C>T	ENST00000558850.1	+	2	747	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	ZNF839_ENST00000559185.1_Missense_Mutation_p.R133C|ZNF839_ENST00000442396.2_Missense_Mutation_p.R249C|ZNF839_ENST00000262236.5_Missense_Mutation_p.R133C	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	133							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTAAAGACACGTTCTGGACG	0.378																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(397-399)Cgt>Tgt		zinc finger protein 839							38.0	36.0	37.0					14																	102792778		1857	4096	5953	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792778C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.397C>T	14.37:g.102792778C>T	ENSP00000453363:p.Arg133Cys					ZNF839_ENST00000442396.2_Missense_Mutation_p.R249C|ZNF839_ENST00000559185.1_Missense_Mutation_p.R133C|ZNF839_ENST00000558850.1_Missense_Mutation_p.R133C	p.R133C	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	752	+			133					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.397C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059347	0.76074	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.50001	0.76;0.76	5.08	5.08	0.68730	.	0.597359	0.12041	U	0.505027	T	0.70185	0.3195	M	0.65975	2.015	0.49299	D	0.999772	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.70454	-0.4867	10	0.87932	D	0	.	18.5645	0.91112	0.0:1.0:0.0:0.0	.	249;133;12;133	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	C	249;133	ENSP00000399863:R249C;ENSP00000262236:R133C	ENSP00000262236:R133C	R	+	1	0	ZNF839	101862531	0.999000	0.42202	0.957000	0.39632	0.893000	0.52053	4.215000	0.58534	2.395000	0.81488	0.650000	0.86243	CGT		0.378	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		20	12	0	0	0	1	0	20	12				
LIFR	3977	broad.mit.edu	37	5	38527391	38527391	+	Missense_Mutation	SNP	C	C	T	rs61751711		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38527391C>T	ENST00000263409.4	-	4	425	c.263G>A	c.(262-264)cGt>cAt	p.R88H	LIFR_ENST00000453190.2_Missense_Mutation_p.R88H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	88	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAACAAGAACGGGACCTGTA	0.254			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(262-264)cGt>cAt		leukemia inhibitory factor receptor alpha		C	HIS/ARG,HIS/ARG	3,4395	6.2+/-15.9	0,3,2196	47.0	48.0	48.0		263,263	0.1	0.0	5	dbSNP_129	48	7,8575	5.7+/-21.5	0,7,4284	yes	missense,missense	LIFR	NM_001127671.1,NM_002310.5	29,29	0,10,6480	TT,TC,CC		0.0816,0.0682,0.077	benign,benign	88/1098,88/1098	38527391	10,12970	2199	4291	6490	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38527391C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.263G>A	5.37:g.38527391C>T	ENSP00000263409:p.Arg88His					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R88H	p.R88H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			4	425	-	all_lung(31;0.00021)		88			Fibronectin type-III 1.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.263G>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037964	0.00402	6.82E-4	8.16E-4	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990	T;T;T	0.64085	-0.08;-0.08;-0.08	5.25	0.0924	0.14472	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.854190	0.02412	N	0.081760	T	0.32010	0.0815	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.02654	T	1	-0.6903	7.871	0.29565	0.0:0.3451:0.0:0.6549	rs61751711	88	P42702	LIFR_HUMAN	H	88	ENSP00000263409:R88H;ENSP00000398368:R88H;ENSP00000426685:R88H	ENSP00000263409:R88H	R	-	2	0	LIFR	38563148	0.000000	0.05858	0.001000	0.08648	0.245000	0.25701	-1.668000	0.01959	-0.217000	0.10033	-0.294000	0.09567	CGT		0.254	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		22	33	0	0	0	1	0	22	33				
EFTUD2	9343	broad.mit.edu	37	17	42929864	42929864	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42929864C>T	ENST00000426333.2	-	26	2925	c.2628G>A	c.(2626-2628)ccG>ccA	p.P876P	EFTUD2_ENST00000402521.3_Silent_p.P841P|EFTUD2_ENST00000592576.1_Silent_p.P866P|EFTUD2_ENST00000591382.1_Silent_p.P876P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	876					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTCGATGGCCGGGATAAAAG	0.532																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2626-2628)ccG>ccA		elongation factor Tu GTP binding domain containing 2							98.0	84.0	89.0					17																	42929864		2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42929864C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2628G>A	17.37:g.42929864C>T						EFTUD2_ENST00000402521.3_Silent_p.P841P|EFTUD2_ENST00000591382.1_Silent_p.P876P|EFTUD2_ENST00000592576.1_Silent_p.P866P	p.P876P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			26	2925	-		Prostate(33;0.109)	876					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.2628G>A	CCDS11489.1																																																																																				0.532	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		17	16	0	0	0	1	0	17	16				
ARID5B	84159	broad.mit.edu	37	10	63661997	63661997	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:63661997G>A	ENST00000279873.7	+	2	511	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	34					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGCAAACCAAGAATTTTGTCC	0.502																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(100-102)aGa>aAa		AT rich interactive domain 5B (MRF1-like)							75.0	79.0	78.0					10																	63661997		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63661997G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.101G>A	10.37:g.63661997G>A	ENSP00000279873:p.Arg34Lys						p.R34K	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			2	511	+	Prostate(12;0.016)|all_hematologic(501;0.215)		34					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.101G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935095	0.52866	.	.	ENSG00000150347	ENST00000279873	T	0.47528	0.84	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38175	1.15	0.80722	D	1	D;B	0.61697	0.99;0.002	D;B	0.73380	0.98;0.002	T	0.54417	-0.8297	10	0.34782	T	0.22	-13.582	18.7117	0.91659	0.0:0.0:1.0:0.0	.	34;34	Q14865-3;Q14865	.;ARI5B_HUMAN	K	34	ENSP00000279873:R34K	ENSP00000279873:R34K	R	+	2	0	ARID5B	63332003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.884000	0.75600	2.712000	0.92718	0.650000	0.86243	AGA		0.502	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		14	30	0	0	0	1	0	14	30				
CHST3	9469	broad.mit.edu	37	10	73767213	73767213	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767213C>T	ENST00000373115.4	+	3	861	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GGCCACCACGCGCACCGGCTC	0.667																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(424-426)Cgc>Tgc		carbohydrate (chondroitin 6) sulfotransferase 3							19.0	18.0	19.0					10																	73767213		2202	4298	6500	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767213C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.424C>T	10.37:g.73767213C>T	ENSP00000362207:p.Arg142Cys						p.R142C	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	861	+			142					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.424C>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390429	0.62066	.	.	ENSG00000122863	ENST00000373115	D	0.88124	-2.34	5.68	4.7	0.59300	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95780	0.8816	10	0.87932	D	0	-28.807	16.5082	0.84278	0.1394:0.8606:0.0:0.0	.	142	Q7LGC8	CHST3_HUMAN	C	142	ENSP00000362207:R142C	ENSP00000362207:R142C	R	+	1	0	CHST3	73437219	0.945000	0.32115	0.973000	0.42090	0.991000	0.79684	2.057000	0.41365	2.698000	0.92095	0.561000	0.74099	CGC		0.667	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	6	0	0	0	1	0	6	6				
EFCAB13	124989	broad.mit.edu	37	17	45421567	45421567	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45421567A>G	ENST00000331493.2	+	7	754	c.343A>G	c.(343-345)Aca>Gca	p.T115A	ITGB3_ENST00000435993.2_3'UTR|ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.T115A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	115						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GGAGAAGGTGACAAGGAAAGA	0.413																																						ENST00000331493.2																			0											c.(343-345)Aca>Gca		EF-hand calcium binding domain 13							180.0	163.0	169.0					17																	45421567		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45421567A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.343A>G	17.37:g.45421567A>G	ENSP00000332111:p.Thr115Ala					ITGB3_ENST00000560629.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.T115A	p.T115A	NM_152347.4	NP_689560.3					7	754	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.343A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024795	0.35701	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.69040	0.23;-0.37	3.19	-0.227	0.13102	.	0.633647	0.14076	N	0.343044	T	0.56702	0.2003	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.30146	0.154;0.27;0.27	B;B;B	0.29524	0.032;0.103;0.059	T	0.52426	-0.8577	10	0.87932	D	0	-10.8107	5.6762	0.17749	0.6141:0.0:0.3859:0.0	.	115;115;115	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	115	ENSP00000332111:T115A;ENSP00000430048:T115A	ENSP00000332111:T115A	T	+	1	0	C17orf57	42776566	0.009000	0.17119	0.440000	0.26846	0.147000	0.21601	0.270000	0.18607	-0.089000	0.12484	-0.361000	0.07541	ACA		0.413	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		34	44	0	0	0	1	0	34	44				
CPNE3	8895	broad.mit.edu	37	8	87570575	87570575	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:87570575C>T	ENST00000521271.1	+	17	1713	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	CPNE3_ENST00000198765.4_Silent_p.G517G	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	517					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGGTGGGCTACTTCAATA	0.433																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1549-1551)ggC>ggT		copine III							126.0	117.0	120.0					8																	87570575		2203	4300	6503	SO:0001819	synonymous_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87570575C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1551C>T	8.37:g.87570575C>T						CPNE3_ENST00000198765.4_Silent_p.G517G	p.G517G	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			17	1713	+			517					A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	c.1551C>T	CCDS6243.1																																																																																				0.433	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			29	35	0	0	0	1	0	29	35				
GABRE	2564	broad.mit.edu	37	X	151123859	151123859	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:151123859G>A	ENST00000370328.3	-	8	1171	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Intron	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	373					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTAGGAGAAGCATGGGCTTT	0.498																																						ENST00000370328.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1117-1119)gCt>gTt		gamma-aminobutyric acid (GABA) A receptor, epsilon							102.0	88.0	93.0					X																	151123859		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123859G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1118C>T	X.37:g.151123859G>A	ENSP00000359353:p.Ala373Val					GABRE_ENST00000370325.1_Intron|GABRE_ENST00000483564.1_5'UTR	p.A373V	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			8	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		373					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1118C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.069981	0.07228	.	.	ENSG00000102287	ENST00000370328	D	0.85556	-2.0	4.13	2.33	0.28932	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.974480	0.01190	N	0.007300	D	0.89210	0.6650	L	0.48362	1.52	0.09310	N	1	D	0.61080	0.989	P	0.61940	0.896	T	0.72757	-0.4197	10	0.35671	T	0.21	.	9.5963	0.39576	0.0:0.4471:0.5529:0.0	.	373	P78334	GBRE_HUMAN	V	373	ENSP00000359353:A373V	ENSP00000359353:A373V	A	-	2	0	GABRE	150874515	0.697000	0.27767	0.360000	0.25837	0.022000	0.10575	0.766000	0.26560	0.506000	0.28125	-0.218000	0.12543	GCT		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		20	6	0	0	0	1	0	20	6				
HIST1H3G	8355	broad.mit.edu	37	6	26271587	26271587	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26271587C>T	ENST00000305910.3	-	1	25	c.26G>A	c.(25-27)cGc>cAc	p.R9H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	9					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGGACTTGCGTGCAGTCTG	0.572																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(25-27)cGc>cAc		histone cluster 1, H3g							26.0	30.0	28.0					6																	26271587		2197	4295	6492	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271587C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.26G>A	6.37:g.26271587C>T	ENSP00000439660:p.Arg9His						p.R9H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	25	-			9					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.26G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.720970	0.30503	.	.	ENSG00000256018	ENST00000305910	T	0.47869	0.83	4.56	4.56	0.56223	.	.	.	.	.	T	0.56645	0.1999	.	.	.	0.44201	D	0.997025	.	.	.	.	.	.	T	0.61997	-0.6947	6	0.62326	D	0.03	.	16.7227	0.85414	0.0:1.0:0.0:0.0	.	.	.	.	H	9	ENSP00000439660:R9H	ENSP00000439660:R9H	R	-	2	0	HIST1H3G	26379566	1.000000	0.71417	0.621000	0.29145	0.152000	0.21847	7.645000	0.83430	2.265000	0.75225	0.563000	0.77884	CGC		0.572	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		5	42	0	0	0	1	0	5	42				
ACPP	55	broad.mit.edu	37	3	132050506	132050506	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132050506C>T	ENST00000336375.5	+	3	322	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ACPP_ENST00000475741.1_Missense_Mutation_p.H78Y|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.H78Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	78					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CATGGAGCAGCATTATGAACT	0.323																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(232-234)Cat>Tat		acid phosphatase, prostate							45.0	50.0	48.0					3																	132050506		2198	4298	6496	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132050506C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.232C>T	3.37:g.132050506C>T	ENSP00000337471:p.His78Tyr					ACPP_ENST00000351273.7_Missense_Mutation_p.H78Y|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.H78Y	p.H78Y	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			3	322	+			78					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.232C>T	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250821	0.80135	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.30981	1.51;1.51;1.51	5.58	5.58	0.84498	.	0.266952	0.32884	N	0.005521	T	0.63153	0.2487	M	0.90309	3.105	0.53005	D	0.999963	D;D;D	0.76494	0.999;0.999;0.995	D;P;P	0.64410	0.925;0.877;0.883	T	0.71137	-0.4680	10	0.87932	D	0	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	78;78;78	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Y	78	ENSP00000337471:H78Y;ENSP00000417744:H78Y;ENSP00000323036:H78Y	ENSP00000337471:H78Y	H	+	1	0	ACPP	133533196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.989000	0.70587	2.636000	0.89361	0.655000	0.94253	CAT		0.323	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		18	44	0	0	0	1	0	18	44				
SNRNP40	9410	broad.mit.edu	37	1	31744302	31744302	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31744302G>A	ENST00000263694.4	-	6	717	c.699C>T	c.(697-699)ggC>ggT	p.G233G	SNRNP40_ENST00000373720.3_5'Flank|SNRNP40_ENST00000446633.2_Silent_p.G233G|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	233					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AATCTGCATGGCCTCTCATGG	0.438																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(697-699)ggC>ggT		small nuclear ribonucleoprotein 40kDa (U5)							79.0	80.0	80.0					1																	31744302		2203	4300	6503	SO:0001819	synonymous_variant	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31744302G>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.699C>T	1.37:g.31744302G>A						SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Silent_p.G233G	p.G233G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			6	717	-			233					B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	c.699C>T	CCDS340.1																																																																																				0.438	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		26	48	0	0	0	1	0	26	48				
OTOF	9381	broad.mit.edu	37	2	26696054	26696054	+	Nonsense_Mutation	SNP	G	G	A	rs111033478		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26696054G>A	ENST00000272371.2	-	29	3805	c.3679C>T	c.(3679-3681)Cga>Tga	p.R1227*	OTOF_ENST00000339598.3_Nonsense_Mutation_p.R480*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.R537*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1227*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R480*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1227					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAAGCGTCGCAGGGAGCTG	0.677																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3679-3681)Cga>Tga		otoferlin							46.0	49.0	48.0					2																	26696054		2203	4299	6502	SO:0001587	stop_gained	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696054G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3679C>T	2.37:g.26696054G>A	ENSP00000272371:p.Arg1227*					OTOF_ENST00000339598.3_Nonsense_Mutation_p.R480*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1227*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R480*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.R537*	p.R1227*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			29	3805	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1227					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	ENST00000272371.2	37	c.3679C>T	CCDS1725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.281150|4.281150	0.80692|0.80692	.|.	.|.	ENSG00000115155|ENSG00000115155	ENST00000426958|ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.|.	.|.	.|.	4.57|4.57	1.66|1.66	0.24008|0.24008	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.39253|.	0.1071|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40365|.	-0.9567|.	3|.	.|0.09590	.|T	.|0.72	-23.1265|-23.1265	12.5731|12.5731	0.56349|0.56349	0.0:0.0:0.5795:0.4205|0.0:0.0:0.5795:0.4205	.|.	.|.	.|.	.|.	V|X	82|480;480;537;1227;1227	.|.	.|ENSP00000272371:R1227X	A|R	-|-	2|1	0|2	OTOF|OTOF	26549558|26549558	0.314000|0.314000	0.24563|0.24563	0.952000|0.952000	0.39060|0.39060	0.919000|0.919000	0.55068|0.55068	0.906000|0.906000	0.28517|0.28517	0.023000|0.023000	0.15187|0.15187	0.305000|0.305000	0.20034|0.20034	GCG|CGA		0.677	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			13	16	0	0	0	1	0	13	16				
S1PR2	9294	broad.mit.edu	37	19	10334659	10334659	+	Missense_Mutation	SNP	G	G	A	rs200973983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10334659G>A	ENST00000590320.1	-	2	1033	c.923C>T	c.(922-924)cCg>cTg	p.P308L	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	308					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCACCCCCGGCCTCCAGCA	0.721																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(922-924)cCg>cTg		sphingosine-1-phosphate receptor 2		G	LEU/PRO	1,4325		0,1,2162	14.0	17.0	16.0		923	-10.4	0.0	19		16	2,8494		0,2,4246	no	missense	S1PR2	NM_004230.3	98	0,3,6408	AA,AG,GG		0.0235,0.0231,0.0234	benign	308/354	10334659	3,12819	2163	4248	6411	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334659G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.923C>T	19.37:g.10334659G>A	ENSP00000466933:p.Pro308Leu						p.P308L	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	1033	-			308					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.923C>T	CCDS12229.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.194	0.034635	0.08101	2.31E-4	2.35E-4	ENSG00000175898	ENST00000317726	.	.	.	5.19	-10.4	0.00318	.	1.719220	0.04305	U	0.347955	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.12156	0.007	T	0.11446	-1.0587	9	0.09338	T	0.73	.	8.8288	0.35072	0.0:0.1547:0.2951:0.5502	.	308	O95136	S1PR2_HUMAN	L	308	.	ENSP00000322049:P308L	P	-	2	0	S1PR2	10195659	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.244000	0.02902	-2.007000	0.00956	-1.248000	0.01517	CCG		0.721	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		6	7	0	0	0	1	0	6	7				
DNHD1	144132	broad.mit.edu	37	11	6588935	6588935	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6588935C>T	ENST00000527990.2	+	34	12196	c.12196C>T	c.(12196-12198)Cgg>Tgg	p.R4066W	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4066W			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4066					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCCTGGGTCGGCCCCTGGA	0.602																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(12196-12198)Cgg>Tgg		dynein heavy chain domain 1							61.0	63.0	62.0					11																	6588935		2032	4174	6206	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588935C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12196C>T	11.37:g.6588935C>T	ENSP00000436180:p.Arg4066Trp					DNHD1_ENST00000527990.2_Missense_Mutation_p.R4066W	p.R4066W	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12760	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4066					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.12196C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361879	0.61403	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.08896	3.04;3.04	4.85	3.91	0.45181	Dynein heavy chain (1);	0.245409	0.30667	N	0.009135	T	0.15739	0.0379	L	0.60455	1.87	0.29193	N	0.875725	B;D;D;B	0.71674	0.08;0.998;0.99;0.029	B;P;P;B	0.57846	0.035;0.828;0.745;0.035	T	0.07366	-1.0776	10	0.87932	D	0	-21.7354	4.114	0.10072	0.198:0.6286:0.0:0.1735	.	3154;334;119;4066	B0I1S4;D3DQT9;Q9NSW8;Q96M86	.;.;.;DNHD1_HUMAN	W	4066;4066;334;334	ENSP00000254579:R4066W;ENSP00000436180:R4066W	ENSP00000254579:R4066W	R	+	1	2	DNHD1	6545511	0.855000	0.29742	0.993000	0.49108	0.827000	0.46813	0.960000	0.29253	1.223000	0.43536	0.561000	0.74099	CGG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	48	0	0	0	1	0	12	48				
CNTNAP2	26047	broad.mit.edu	37	7	147092700	147092700	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:147092700G>T	ENST00000361727.3	+	10	2014		c.e10-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTTTCACAGGTTTTCTGAA	0.408										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.e10-1		contactin associated protein-like 2							142.0	135.0	137.0					7																	147092700		2203	4299	6502	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092700G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1499-1G>T	7.37:g.147092700G>T		HNSCC(39;0.1)						NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2014	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)						D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	ENST00000361727.3	37		CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421309	0.83559	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4777	0.87664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	146723633	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	8.381000	0.90152	2.471000	0.83476	0.585000	0.79938	.		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Intron	17	98	1	0	1.15088e-07	1	1.20771e-07	17	98				
PCDHGA1	56114	broad.mit.edu	37	5	140712458	140712458	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712458C>T	ENST00000517417.1	+	1	2207	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P736L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	736					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GCGAGCATGCCCGGTTCGCAC	0.637																																						ENST00000517417.1																			0				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						c.(2206-2208)cCc>cTc									72.0	76.0	74.0					5																	140712458		2203	4300	6503	SO:0001583	missense	0							g.chr5:140712458C>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.2207C>T	5.37:g.140712458C>T	ENSP00000431083:p.Pro736Leu					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P736L	p.P736L	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2207	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2207C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.425180	0.43020	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51325	0.71;0.72	4.04	3.17	0.36434	.	0.665481	0.13164	N	0.408854	T	0.56992	0.2023	M	0.90369	3.11	0.34002	D	0.650469	B;B	0.24368	0.102;0.083	B;B	0.33339	0.162;0.111	T	0.66606	-0.5881	10	0.87932	D	0	.	7.1228	0.25454	0.1725:0.7397:0.0:0.0878	.	736;736	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	736	ENSP00000431083:P736L;ENSP00000367345:P736L	ENSP00000367345:P736L	P	+	2	0	PCDHGA1	140692642	0.021000	0.18746	0.014000	0.15608	0.008000	0.06430	2.033000	0.41136	1.057000	0.40506	-0.196000	0.12772	CCC		0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		32	47	0	0	0	1	0	32	47				
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104121053C>T	ENST00000388887.2	+	47	5064	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F		NM_017564.9	NP_060034.9			stabilin 2									p.F1620F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGCATTTCGTGAAAGATC	0.512																																						ENST00000388887.2																			1	Substitution - coding silent(1)	p.F1620F(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4858-4860)ttC>ttT		stabilin 2							244.0	238.0	240.0					12																	104121053		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104121053C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4860C>T	12.37:g.104121053C>T							p.F1620F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			47	5064	+			1620			FAS1 5.			Silent	SNP	ENST00000388887.2	37	c.4860C>T	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			17	183	0	0	0	1	0	17	183				
TP53	7157	broad.mit.edu	37	17	7579467	7579467	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7579467C>T	ENST00000269305.4	-	4	409	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TP53_ENST00000359597.4_Missense_Mutation_p.A74T|TP53_ENST00000445888.2_Missense_Mutation_p.A74T|TP53_ENST00000455263.2_Missense_Mutation_p.A74T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.A74T|TP53_ENST00000420246.2_Missense_Mutation_p.A74T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	74	Interaction with HRMT1L2.|Interaction with WWOX.		A -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.A74fs*49(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A74fs*71(1)|p.A74fs*47(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGCAGGGGCCACGGGGGGA	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - frameshift(1)|Deletion - In frame(1)	p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.A74fs*49(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.A74fs*71(1)|p.A74fs*47(1)	breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(220-222)Gcc>Acc	Other conserved DNA damage response genes	tumor protein p53							77.0	85.0	83.0					17																	7579467		2202	4298	6500	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579467C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.220G>A	17.37:g.7579467C>T	ENSP00000269305:p.Ala74Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.A74T|TP53_ENST00000455263.2_Missense_Mutation_p.A74T|TP53_ENST00000445888.2_Missense_Mutation_p.A74T|TP53_ENST00000413465.2_Missense_Mutation_p.A74T|TP53_ENST00000269305.4_Missense_Mutation_p.A74T	p.A74T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	352	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	74		A -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.220G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695216	0.15039	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99319	-5.22;-5.74;-5.47;-5.74;-5.74;-5.47;-4.13;-2.05	2.05	-0.0579	0.13799	.	1.817360	0.02244	N	0.066042	D	0.95828	0.8642	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;P	0.37781	0.421;0.011;0.016;0.403;0.001;0.004;0.608	B;B;B;B;B;B;B	0.32980	0.107;0.005;0.006;0.088;0.004;0.004;0.156	D	0.97001	0.9729	10	0.11485	T	0.65	.	5.9669	0.19330	0.0:0.6907:0.0:0.3093	.	35;74;74;74;74;74;74	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	74	ENSP00000410739:A74T;ENSP00000352610:A74T;ENSP00000269305:A74T;ENSP00000398846:A74T;ENSP00000391127:A74T;ENSP00000391478:A74T;ENSP00000424104:A74T;ENSP00000426252:A74T	ENSP00000269305:A74T	A	-	1	0	TP53	7520192	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.075000	0.14686	0.017000	0.15025	0.561000	0.74099	GCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	87	0	0	0	1	0	55	87				
TBC1D25	4943	broad.mit.edu	37	X	48418543	48418543	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48418543G>A	ENST00000376771.4	+	6	1588	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.R162H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	416	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAACTCAAGCGTGAGTTCGCC	0.572																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1246-1248)cGt>cAt		TBC1 domain family, member 25							37.0	24.0	28.0					X																	48418543		2203	4299	6502	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418543G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1247G>A	X.37:g.48418543G>A	ENSP00000365962:p.Arg416His					TBC1D25_ENST00000537536.1_Missense_Mutation_p.R162H|TBC1D25_ENST00000427713.1_3'UTR	p.R416H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1588	+			416			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1247G>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897253	0.72639	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.33216	1.42;1.42	5.49	5.49	0.81192	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	H	0.97365	3.99	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82039	-0.0655	10	0.87932	D	0	-10.3373	15.752	0.77992	0.0:0.0:1.0:0.0	.	420;358;416	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	416;162	ENSP00000365962:R416H;ENSP00000444091:R162H	ENSP00000365962:R416H	R	+	2	0	TBC1D25	48303487	1.000000	0.71417	0.974000	0.42286	0.680000	0.39746	9.098000	0.94202	2.317000	0.78254	0.431000	0.28591	CGT		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		12	1	0	0	0	1	0	12	1				
CTNNB1	1499	broad.mit.edu	37	3	41267003	41267003	+	Missense_Mutation	SNP	G	G	A	rs144087793		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:41267003G>A	ENST00000349496.5	+	5	954	c.674G>A	c.(673-675)cGt>cAt	p.R225H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R218H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R225H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	225					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCCATCATCGTGAGGGCTTA	0.453		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(673-675)cGt>cAt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						104.0	98.0	100.0					3																	41267003		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41267003G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.674G>A	3.37:g.41267003G>A	ENSP00000344456:p.Arg225His					CTNNB1_ENST00000396185.3_Missense_Mutation_p.R225H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R225H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R218H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R225H	p.R225H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	5	954	+			225					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.674G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682313	0.68042	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.73598	2.24	0.80722	D	1	P;D	0.64830	0.732;0.994	B;P	0.55545	0.156;0.778	T	0.76066	-0.3095	10	0.46703	T	0.11	-1.3683	19.6332	0.95719	0.0:0.0:1.0:0.0	.	153;225	B4DSW9;P35222	.;CTNB1_HUMAN	H	225;225;225;218;225	ENSP00000385604:R225H;ENSP00000379486:R225H;ENSP00000344456:R225H;ENSP00000411226:R218H;ENSP00000379488:R225H	ENSP00000344456:R225H	R	+	2	0	CTNNB1	41242007	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.869000	0.99810	2.645000	0.89757	0.591000	0.81541	CGT		0.453	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		13	24	0	0	0	1	0	13	24				
ARMCX5	64860	broad.mit.edu	37	X	101858624	101858624	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101858624A>G	ENST00000604957.1	+	1	4177	c.1555A>G	c.(1555-1557)Aaa>Gaa	p.K519E	ARMCX5_ENST00000536530.1_Missense_Mutation_p.K519E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K519E|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	519										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAAGTTCACTAAATCTGAGCT	0.333																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1555-1557)Aaa>Gaa		armadillo repeat containing, X-linked 5							56.0	57.0	57.0					X																	101858624		2162	4272	6434	SO:0001583	missense	64860						binding	g.chrX:101858624A>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1555A>G	X.37:g.101858624A>G	ENSP00000474720:p.Lys519Glu					ARMCX5_ENST00000536530.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.K519E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K519E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K519E|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K519E	p.K519E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	4177	+			519					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.1555A>G	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994402	0.35226	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	3.88	2.69	0.31865	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.43579	D	0.000546	T	0.30916	0.0780	N	0.20845	0.615	0.25861	N	0.983823	D	0.76494	0.999	D	0.83275	0.996	T	0.12656	-1.0539	10	0.16420	T	0.52	-12.7729	5.8165	0.18495	0.7615:0.0:0.0:0.2385	.	519	Q6P1M9	ARMX5_HUMAN	E	519	ENSP00000246174:K519E;ENSP00000439001:K519E;ENSP00000446385:K519E;ENSP00000445851:K519E;ENSP00000361827:K519E	ENSP00000246174:K519E	K	+	1	0	ARMCX5	101745280	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.630000	0.54273	0.650000	0.30769	0.486000	0.48141	AAA		0.333	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		36	16	0	0	0	1	0	36	16				
CTSK	1513	broad.mit.edu	37	1	150772104	150772104	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150772104C>T	ENST00000271651.3	-	6	810	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	234					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTTCAGGGCTTTCTCATTC	0.512																																						ENST00000271651.3																			0				cervix(1)|endometrium(1)|lung(4)|skin(1)	7						c.(700-702)Gcc>Acc		cathepsin K							130.0	126.0	127.0					1																	150772104		2203	4300	6503	SO:0001583	missense	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150772104C>T	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.700G>A	1.37:g.150772104C>T	ENSP00000271651:p.Ala234Thr						p.A234T	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	810	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		234					Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	37	c.700G>A	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225701	0.95173	.	.	ENSG00000143387	ENST00000271651	D	0.87966	-2.32	6.04	6.04	0.98038	Peptidase C1A, papain C-terminal (2);	0.284859	0.37955	N	0.001866	D	0.92864	0.7730	M	0.83312	2.635	0.58432	D	0.999999	D	0.76494	0.999	D	0.64877	0.93	D	0.92717	0.6188	10	0.62326	D	0.03	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	234	P43235	CATK_HUMAN	T	234	ENSP00000271651:A234T	ENSP00000271651:A234T	A	-	1	0	CTSK	149038728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.972000	0.63756	2.873000	0.98535	0.563000	0.77884	GCC		0.512	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		31	46	0	0	0	1	0	31	46				
NT5C1B	93034	broad.mit.edu	37	2	18765459	18765459	+	Silent	SNP	G	G	A	rs543116360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:18765459G>A	ENST00000359846.2	-	6	1043	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.D262D|NT5C1B_ENST00000600945.1_Silent_p.D322D|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	322					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTTCCTGCCGTCCACCATGT	0.557																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(784-786)gaC>gaT		5'-nucleotidase, cytosolic IB							166.0	158.0	161.0					2																	18765459		2203	4300	6503	SO:0001819	synonymous_variant	93034							g.chr2:18765459G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.966C>T	2.37:g.18765459G>A						NT5C1B_ENST00000359846.2_Silent_p.D322D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D322D|NT5C1B_ENST00000600945.1_Silent_p.D322D	p.D262D	NM_033253.3	NP_150278.2					5	886	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.786C>T	CCDS33150.1																																																																																				0.557	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			54	79	0	0	0	1	0	54	79				
TTC30B	150737	broad.mit.edu	37	2	178416380	178416380	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178416380G>A	ENST00000408939.3	-	1	1362	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	371					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCTTCAGGAGCTGTCTGGCA	0.473																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1111-1113)gCt>gTt		tetratricopeptide repeat domain 30B							117.0	125.0	122.0					2																	178416380		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416380G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1112C>T	2.37:g.178416380G>A	ENSP00000386181:p.Ala371Val						p.A371V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1362	-			371					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1112C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532916	0.64972	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.19250	2.16	4.77	4.77	0.60923	.	0.046083	0.85682	D	0.000000	T	0.30727	0.0774	M	0.71581	2.175	0.80722	D	1	P	0.41748	0.761	B	0.41332	0.354	T	0.20273	-1.0280	10	0.62326	D	0.03	.	18.3267	0.90256	0.0:0.0:1.0:0.0	.	371	Q8N4P2	TT30B_HUMAN	V	324;371	ENSP00000386181:A371V	ENSP00000386181:A371V	A	-	2	0	TTC30B	178124626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.904000	0.92590	2.628000	0.89032	0.655000	0.94253	GCT		0.473	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		42	52	0	0	0	1	0	42	52				
ZNF41	7592	broad.mit.edu	37	X	47307942	47307942	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47307942T>C	ENST00000377065.4	-	5	1866	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K	ZNF41_ENST00000397050.2_Silent_p.K419K|ZNF41_ENST00000313116.7_Silent_p.K409K|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCATAGTGTTTCTCTCCGG	0.428																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1225-1227)aaA>aaG		zinc finger protein 41							104.0	94.0	97.0					X																	47307942		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307942T>C	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1227A>G	X.37:g.47307942T>C						ZNF41_ENST00000313116.7_Silent_p.K409K|ZNF41_ENST00000397050.2_Silent_p.K419K	p.K409K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1866	-		all_lung(315;0.000129)	451					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1227A>G	CCDS14279.1																																																																																				0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		71	7	0	0	0	1	0	71	7				
CTSF	8722	broad.mit.edu	37	11	66333587	66333587	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66333587C>T	ENST00000310325.5	-	6	882	c.773G>A	c.(772-774)gGc>gAc	p.G258D	ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	258					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CATCTTGTTGCCAGGCTCTTT	0.552																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(772-774)gGc>gAc		cathepsin F							117.0	114.0	115.0					11																	66333587		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66333587C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.773G>A	11.37:g.66333587C>T	ENSP00000310832:p.Gly258Asp						p.G258D	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			6	882	-			258					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.773G>A	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.892|4.892	0.165735|0.165735	0.09339|0.09339	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000310325|ENST00000524994	T|.	0.21734|.	1.99|.	5.84|5.84	3.96|3.96	0.45880|0.45880	.|.	1.167000|.	0.06117|.	N|.	0.668163|.	T|.	0.22781|.	0.0550|.	N|N	0.16903|0.16903	0.455|0.455	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.14023|.	0.01|.	T|.	0.20338|.	-1.0278|.	10|.	0.14656|.	T|.	0.56|.	.|.	7.1691|7.1691	0.25708|0.25708	0.3024:0.6194:0.0:0.0783|0.3024:0.6194:0.0:0.0783	.|.	258|.	Q9UBX1|.	CATF_HUMAN|.	D|X	258|105	ENSP00000310832:G258D|.	ENSP00000310832:G258D|.	G|W	-|-	2|3	0|0	CTSF|CTSF	66090163|66090163	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.037000|0.037000	0.13140|0.13140	-0.106000|-0.106000	0.10890|0.10890	0.807000|0.807000	0.34208|0.34208	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.552	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		14	25	0	0	0	1	0	14	25				
SESN2	83667	broad.mit.edu	37	1	28595713	28595713	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28595713C>T	ENST00000253063.3	+	2	431	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	37					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCCGGGCTCGGCGAGGC	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(109-111)gCt>gTt		sestrin 2							58.0	64.0	62.0					1																	28595713		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28595713C>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.110C>T	1.37:g.28595713C>T	ENSP00000253063:p.Ala37Val						p.A37V	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	2	431	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	37					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.110C>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.154919	0.21371	.	.	ENSG00000130766	ENST00000253063	T	0.18810	2.19	5.38	2.34	0.29019	.	0.529886	0.21055	N	0.080925	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39440	-0.9614	10	0.10902	T	0.67	0.9852	8.4689	0.32973	0.0:0.5993:0.0:0.4007	.	37	P58004	SESN2_HUMAN	V	37	ENSP00000253063:A37V	ENSP00000253063:A37V	A	+	2	0	SESN2	28468300	0.035000	0.19736	0.379000	0.26080	0.873000	0.50193	0.783000	0.26802	0.203000	0.20529	0.655000	0.94253	GCT		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			22	34	0	0	0	1	0	22	34				
ITGAX	3687	broad.mit.edu	37	16	31372436	31372436	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31372436C>T	ENST00000268296.4	+	9	1035	c.914C>T	c.(913-915)gCa>gTa	p.A305V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A305V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	305	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AATGACATTGCATCGAAGCCC	0.368																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(913-915)gCa>gTa		integrin, alpha X (complement component 3 receptor 4 subunit)							117.0	126.0	123.0					16																	31372436		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31372436C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.914C>T	16.37:g.31372436C>T	ENSP00000268296:p.Ala305Val					ITGAX_ENST00000562522.1_Missense_Mutation_p.A305V	p.A305V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			9	1035	+			305			VWFA.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.914C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793664	0.96952	.	.	ENSG00000140678	ENST00000268296	D	0.88431	-2.38	5.07	4.11	0.48088	von Willebrand factor, type A (3);	.	.	.	.	D	0.95379	0.8500	H	0.94582	3.555	0.36064	D	0.841686	D	0.76494	0.999	D	0.65573	0.936	D	0.98576	1.0648	9	0.87932	D	0	.	13.0752	0.59083	0.0:0.838:0.162:0.0	.	305	P20702	ITAX_HUMAN	V	305	ENSP00000268296:A305V	ENSP00000268296:A305V	A	+	2	0	ITGAX	31279937	1.000000	0.71417	0.787000	0.31911	0.982000	0.71751	3.135000	0.50546	1.256000	0.44068	0.585000	0.79938	GCA		0.368	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		41	82	0	0	0	1	0	41	82				
ZZZ3	26009	broad.mit.edu	37	1	78098877	78098877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78098877C>A	ENST00000370801.3	-	5	638	c.163G>T	c.(163-165)Gag>Tag	p.E55*	ZZZ3_ENST00000476275.1_5'Flank|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	55					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGCACAGGCTCTGGTCTCTTC	0.408																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(163-165)Gag>Tag		zinc finger, ZZ-type containing 3							164.0	172.0	169.0					1																	78098877		2202	4300	6502	SO:0001587	stop_gained	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098877C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.163G>T	1.37:g.78098877C>A	ENSP00000359837:p.Glu55*					ZZZ3_ENST00000370798.1_Intron	p.E55*	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	638	-			55					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Nonsense_Mutation	SNP	ENST00000370801.3	37	c.163G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	37	6.208505	0.97376	.	.	ENSG00000036549	ENST00000370801;ENST00000433749	.	.	.	4.63	4.63	0.57726	.	0.110089	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.3833	0.90457	0.0:1.0:0.0:0.0	.	.	.	.	X	55	.	ENSP00000359837:E55X	E	-	1	0	ZZZ3	77871465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.381000	0.79718	2.476000	0.83614	0.650000	0.86243	GAG		0.408	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		62	101	1	0	2.17656e-39	1	2.44564e-39	62	101				
HELB	92797	broad.mit.edu	37	12	66712428	66712428	+	Missense_Mutation	SNP	C	C	T	rs143522796	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66712428C>T	ENST00000247815.4	+	7	2070	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	671					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.R671C(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATCTCAAGACGCCAATTTCC	0.313													C|||	6	0.00119808	0.003	0.0	5008	,	,		16420	0.002		0.0	False		,,,				2504	0.0					ENST00000247815.4																			2	Substitution - Missense(2)	p.R671C(2)	large_intestine(1)|pancreas(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2011-2013)Cgc>Tgc		helicase (DNA) B		C	CYS/ARG	16,4390	22.3+/-47.3	0,16,2187	99.0	103.0	102.0		2011	4.4	1.0	12	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HELB	NM_033647.2	180	0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384	probably-damaging	671/1088	66712428	18,12988	2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66712428C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2011C>T	12.37:g.66712428C>T	ENSP00000247815:p.Arg671Cys						p.R671C	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	7	2070	+			671					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2011C>T	CCDS8976.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	10.68	1.417678	0.25552	0.003631	2.33E-4	ENSG00000127311	ENST00000247815	T	0.45276	0.9	5.26	4.36	0.52297	.	0.170193	0.39475	N	0.001342	T	0.37598	0.1009	L	0.59436	1.845	0.45899	D	0.99874	B	0.34255	0.445	B	0.28465	0.09	T	0.19976	-1.0289	9	.	.	.	-8.2078	14.5379	0.67973	0.0:0.9286:0.0:0.0714	.	671	Q8NG08	HELB_HUMAN	C	671	ENSP00000247815:R671C	.	R	+	1	0	HELB	64998695	0.780000	0.28664	0.967000	0.41034	0.195000	0.23768	3.328000	0.52052	1.355000	0.45865	0.655000	0.94253	CGC		0.313	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			19	32	0	0	0	1	0	19	32				
GSG2	83903	broad.mit.edu	37	17	3628712	3628712	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3628712T>C	ENST00000325418.4	+	1	1502	c.1483T>C	c.(1483-1485)Ttt>Ctt	p.F495L	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	495	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGAAGGGGTGTTTGGCGAAGT	0.453																																						ENST00000325418.4																			0											c.(1483-1485)Ttt>Ctt		germ cell associated 2 (haspin)							61.0	58.0	59.0					17																	3628712		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628712T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1483T>C	17.37:g.3628712T>C	ENSP00000325290:p.Phe495Leu					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.F495L	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1502	+			495			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1483T>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573243	0.86542	.	.	ENSG00000177602	ENST00000325418	T	0.69175	-0.38	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000721	T	0.81612	0.4859	M	0.89840	3.065	0.53688	D	0.999974	D	0.63880	0.993	P	0.58620	0.842	D	0.85761	0.1349	10	0.87932	D	0	-36.6898	12.8971	0.58106	0.0:0.0:0.0:1.0	.	495	Q8TF76	HASP_HUMAN	L	495	ENSP00000325290:F495L	ENSP00000325290:F495L	F	+	1	0	GSG2	3575461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.806000	0.69150	2.139000	0.66308	0.533000	0.62120	TTT		0.453	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		33	46	0	0	0	1	0	33	46				
LAMA3	3909	broad.mit.edu	37	18	21402284	21402284	+	Silent	SNP	C	C	T	rs371550637		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21402284C>T	ENST00000313654.9	+	20	2614	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_ENST00000399516.3_Silent_p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTCTGAGATACGTTAACCCTG	0.383																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2371-2373)taC>taT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	,	1,3765		0,1,1882	125.0	115.0	118.0		2373,2373	-6.6	0.0	18		118	0,8226		0,0,4113	no	coding-synonymous,coding-synonymous	LAMA3	NM_001127717.1,NM_198129.1	,	0,1,5995	TT,TC,CC		0.0,0.0266,0.0083	,	791/3278,791/3334	21402284	1,11991	1883	4113	5996	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21402284C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2373C>T	18.37:g.21402284C>T						LAMA3_ENST00000399516.3_Silent_p.Y791Y	p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			20	2614	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		791					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.2373C>T	CCDS42419.1																																																																																				0.383	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		27	48	0	0	0	1	0	27	48				
MFSD2B	388931	broad.mit.edu	37	2	24246538	24246538	+	Missense_Mutation	SNP	G	G	A	rs201173299		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24246538G>A	ENST00000406420.3	+	12	1271	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	MFSD2B_ENST00000338315.4_Missense_Mutation_p.V419I	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	419					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CTCCTCCTACGTCTTCTTCAC	0.607																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1255-1257)Gtc>Atc		major facilitator superfamily domain containing 2B		G	ILE/VAL	3,4319		0,3,2158	154.0	158.0	157.0		1255	5.3	1.0	2		157	0,8520		0,0,4260	yes	missense	MFSD2B	NM_001080473.1	29	0,3,6418	AA,AG,GG		0.0,0.0694,0.0234	possibly-damaging	419/498	24246538	3,12839	2161	4260	6421	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24246538G>A		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1255G>A	2.37:g.24246538G>A	ENSP00000385527:p.Val419Ile					MFSD2B_ENST00000406420.3_Missense_Mutation_p.V419I	p.V419I			A6NFX1	MFS2B_HUMAN			12	1255	+			419					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1255G>A	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921822	0.73213	6.94E-4	0.0	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.87412	-2.25;-2.25	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.057544	0.64402	D	0.000002	D	0.91855	0.7422	M	0.69185	2.1	0.58432	D	0.99999	D	0.64830	0.994	P	0.62491	0.903	D	0.92232	0.5793	10	0.62326	D	0.03	-44.0427	16.782	0.85565	0.0:0.0:1.0:0.0	.	419	A6NFX1	MFS2B_HUMAN	I	419	ENSP00000385527:V419I;ENSP00000342501:V419I	ENSP00000342501:V419I	V	+	1	0	MFSD2B	24100042	1.000000	0.71417	0.966000	0.40874	0.190000	0.23558	9.752000	0.98900	2.646000	0.89796	0.555000	0.69702	GTC		0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		32	58	0	0	0	1	0	32	58				
CCNI	10983	broad.mit.edu	37	4	77969538	77969538	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77969538C>T	ENST00000237654.4	-	7	1544	c.968G>A	c.(967-969)cGc>cAc	p.R323H	CCNI_ENST00000537948.1_Missense_Mutation_p.R309H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	323					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CTCTACTTTGCGTTTAGTAGA	0.468																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(967-969)cGc>cAc		cyclin I							145.0	145.0	145.0					4																	77969538		2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969538C>T	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.968G>A	4.37:g.77969538C>T	ENSP00000237654:p.Arg323His					CCNI_ENST00000537948.1_Missense_Mutation_p.R309H	p.R323H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1544	-			323					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.968G>A	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140412	0.77775	.	.	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.46063	0.88;0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.973;0.98	T	0.67589	-0.5632	10	0.66056	D	0.02	-2.6814	19.5565	0.95351	0.0:1.0:0.0:0.0	.	309;323	B7Z6X4;Q14094	.;CCNI_HUMAN	H	323;309	ENSP00000237654:R323H;ENSP00000441001:R309H	ENSP00000237654:R323H	R	-	2	0	CCNI	78188562	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.376000	0.59556	2.614000	0.88457	0.563000	0.77884	CGC		0.468	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		29	53	0	0	0	1	0	29	53				
MICAL1	64780	broad.mit.edu	37	6	109775015	109775015	+	Missense_Mutation	SNP	G	G	A	rs200600122		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109775015G>A	ENST00000358807.3	-	3	603	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	MICAL1_ENST00000368952.4_Missense_Mutation_p.R117W|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98W	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	98	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACAGCGACCCGCAGCCCGCAA	0.652																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(349-351)Cgg>Tgg		microtubule associated monooxygenase, calponin and LIM domain containing 1							69.0	63.0	65.0					6																	109775015		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775015G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.292C>T	6.37:g.109775015G>A	ENSP00000351664:p.Arg98Trp					MICAL1_ENST00000358577.3_Missense_Mutation_p.R98W|MICAL1_ENST00000358807.3_Missense_Mutation_p.R98W	p.R117W			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	3	639	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	98					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.349C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998477	0.74818	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.41	4.53	0.55603	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.08118	0	0.44899	D	0.99791	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.55211	-0.8176	10	0.87932	D	0	.	13.3374	0.60524	0.0:0.0:0.8412:0.1588	.	117;98;98	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	W	98;117;98;98	ENSP00000351664:R98W;ENSP00000357948:R117W;ENSP00000351385:R98W;ENSP00000407075:R98W	ENSP00000351385:R98W	R	-	1	2	MICAL1	109881708	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	3.477000	0.53151	1.502000	0.48669	0.561000	0.74099	CGG		0.652	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		22	39	0	0	0	1	0	22	39				
XIRP2	129446	broad.mit.edu	37	2	168106837	168106837	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168106837C>T	ENST00000409195.1	+	9	9024	c.8935C>T	c.(8935-8937)Cta>Tta	p.L2979L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2757L|XIRP2_ENST00000295237.9_Silent_p.L2979L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2804					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTCAGACACTATTAAATAC	0.348																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8935-8937)Cta>Tta		xin actin-binding repeat containing 2							85.0	84.0	85.0					2																	168106837		1831	4084	5915	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106837C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8935C>T	2.37:g.168106837C>T						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L2979L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2757L|XIRP2_ENST00000409043.1_Intron	p.L2979L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9024	+			2804					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.8935C>T	CCDS42769.1																																																																																				0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		30	36	0	0	0	1	0	30	36				
NCKAP5L	57701	broad.mit.edu	37	12	50190921	50190921	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50190921G>A	ENST00000335999.6	-	8	923	c.722C>T	c.(721-723)gCg>gTg	p.A241V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	237	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGGCAGGGCGCCCAGGGTGA	0.731																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(721-723)gCg>gTg		NCK-associated protein 5-like							10.0	12.0	11.0					12																	50190921		1922	4098	6020	SO:0001583	missense	57701							g.chr12:50190921G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.722C>T	12.37:g.50190921G>A	ENSP00000337998:p.Ala241Val						p.A241V	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	923	-			237			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.722C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406064	0.62288	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.56776	0.44	4.28	2.32	0.28847	.	.	.	.	.	T	0.33147	0.0853	N	0.19112	0.55	0.28105	N	0.931242	P	0.51240	0.943	B	0.41860	0.368	T	0.11494	-1.0585	9	0.14656	T	0.56	-7.5195	8.716	0.34411	0.0:0.1649:0.6646:0.1705	.	237	E2QRB5	.	V	241;237	ENSP00000337998:A241V	ENSP00000337998:A241V	A	-	2	0	NCKAP5L	48477188	0.998000	0.40836	0.941000	0.38009	0.462000	0.32619	4.786000	0.62425	0.328000	0.23435	0.462000	0.41574	GCG		0.731	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	10	0	0	0	1	0	4	10				
TRIML2	205860	broad.mit.edu	37	4	189020257	189020257	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:189020257G>A	ENST00000512729.1	-	4	777	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C|TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	135					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAGGCTGCGGACCTGTTCA	0.483																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(403-405)Cgc>Tgc		tripartite motif family-like 2							107.0	104.0	105.0					4																	189020257		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189020257G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.403C>T	4.37:g.189020257G>A	ENSP00000422581:p.Arg135Cys					TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C|TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C	p.R135C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	4	777	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	135					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.403C>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862400	0.32884	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58060	3.51;0.36;3.75	4.72	-6.47	0.01902	.	0.361572	0.20462	N	0.091871	T	0.18130	0.0435	N	0.04508	-0.205	0.09310	N	0.999996	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.03761	-1.1006	10	0.44086	T	0.13	.	1.092	0.01665	0.2696:0.1336:0.3359:0.2609	.	185;135;135	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	C	135;135;185	ENSP00000422581:R135C;ENSP00000317498:R135C;ENSP00000441236:R185C	ENSP00000317498:R135C	R	-	1	0	TRIML2	189257251	0.000000	0.05858	0.006000	0.13384	0.172000	0.22775	-3.194000	0.00563	-0.991000	0.03476	-0.295000	0.09555	CGC		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		36	48	0	0	0	1	0	36	48				
ZCWPW1	55063	broad.mit.edu	37	7	99999658	99999658	+	Missense_Mutation	SNP	C	C	T	rs374199507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99999658C>T	ENST00000398027.2	-	17	1725	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000490721.1_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	493							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCATCACCCCCAAGCCCTAG	0.542																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1477-1479)gGg>gAg		zinc finger, CW type with PWWP domain 1		C	GLU/GLY	1,3999		0,1,1999	132.0	127.0	129.0		1478	2.9	0.0	7		129	0,8340		0,0,4170	no	missense	ZCWPW1	NM_017984.3	98	0,1,6169	TT,TC,CC		0.0,0.025,0.0081	possibly-damaging	493/649	99999658	1,12339	2000	4170	6170	SO:0001583	missense	55063						zinc ion binding	g.chr7:99999658C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1478G>A	7.37:g.99999658C>T	ENSP00000381109:p.Gly493Glu					ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron	p.G493E	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			17	1725	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		493					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1478G>A	CCDS43623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.694531|1.694531	0.30052|0.30052	2.5E-4|2.5E-4	0.0|0.0	ENSG00000078487|ENSG00000233389	ENST00000398027|ENST00000449355	T|.	0.44881|.	0.91|.	4.71|4.71	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.21225|.	0.053;0.053|.	B;B|.	0.20184|.	0.028;0.028|.	T|T	0.20338|0.20338	-1.0278|-1.0278	8|5	.|.	.|.	.|.	12.5917|12.5917	7.0838|7.0838	0.25245|0.25245	0.0:0.7949:0.0:0.2051|0.0:0.7949:0.0:0.2051	.|.	454;493|.	B4DXS7;Q9H0M4|.	.;ZCPW1_HUMAN|.	E|S	493|126	ENSP00000381109:G493E|.	.|.	G|P	-|+	2|1	0|0	ZCWPW1|AC005071.3	99837594|99837594	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.010000|0.010000	0.07245|0.07245	0.495000|0.495000	0.22483|0.22483	0.695000|0.695000	0.31675|0.31675	0.655000|0.655000	0.94253|0.94253	GGG|CCA		0.542	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		4	110	0	0	0	1	0	4	110				
MUC16	94025	broad.mit.edu	37	19	8997151	8997151	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8997151G>T	ENST00000397910.4	-	60	41248	c.41045C>A	c.(41044-41046)cCt>cAt	p.P13682H	MUC16_ENST00000380951.5_Missense_Mutation_p.P323H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13684	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGTACAGAGGGCCAACACT	0.552																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41044-41046)cCt>cAt		mucin 16, cell surface associated							113.0	93.0	99.0					19																	8997151		1986	4167	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997151G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41045C>A	19.37:g.8997151G>T	ENSP00000381008:p.Pro13682His					MUC16_ENST00000380951.5_Missense_Mutation_p.P323H	p.P13682H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			60	41248	-			13684	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41045C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.717|6.717	0.501018|0.501018	0.12822|0.12822	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.38401	.|1.14;1.14	2.76|2.76	0.546|0.546	0.17196|0.17196	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.46756|0.46756	0.1409|0.1409	L|L	0.57536|0.57536	1.79|1.79	.|.	.|.	.|.	.|B;D	.|0.76494	.|0.005;0.999	.|B;D	.|0.81914	.|0.012;0.995	T|T	0.51076|0.51076	-0.8751|-0.8751	4|8	.|0.38643	.|T	.|0.18	0.3711|0.3711	3.5167|3.5167	0.07727|0.07727	0.1385:0.0:0.6155:0.246|0.1385:0.0:0.6155:0.246	.|.	.|21327;13682	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	I|H	522|13682;323	.|ENSP00000381008:P13682H;ENSP00000370338:P323H	.|ENSP00000370338:P323H	L|P	-|-	1|2	0|0	MUC16|MUC16	8858151|8858151	0.010000|0.010000	0.17322|0.17322	0.000000|0.000000	0.03702|0.03702	0.161000|0.161000	0.22273|0.22273	1.827000|1.827000	0.39102|0.39102	0.234000|0.234000	0.21139|0.21139	-0.508000|-0.508000	0.04489|0.04489	CTC|CCT		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	49	1	0	1.36161e-19	1	1.50697e-19	29	49				
MFN2	9927	broad.mit.edu	37	1	12049245	12049245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12049245G>A	ENST00000235329.5	+	3	342	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	MFN2_ENST00000497302.1_3'UTR|MFN2_ENST00000444836.1_Missense_Mutation_p.R7Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	7					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.R7L(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCTTCTCTCGATGCAACTCT	0.493																																						ENST00000235329.5																			1	Substitution - Missense(1)	p.R7L(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(19-21)cGa>cAa		mitofusin 2							165.0	152.0	157.0					1																	12049245		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12049245G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.20G>A	1.37:g.12049245G>A	ENSP00000235329:p.Arg7Gln					MFN2_ENST00000444836.1_Missense_Mutation_p.R7Q|MFN2_ENST00000497302.1_3'UTR	p.R7Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	342	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	7					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.20G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589379	0.66105	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99329	-5.75;-5.75;-3.59	5.88	2.44	0.29823	.	0.131519	0.52532	D	0.000078	D	0.97272	0.9108	L	0.49350	1.555	0.51767	D	0.999932	B	0.32128	0.357	B	0.21151	0.033	D	0.95845	0.8869	10	0.62326	D	0.03	-0.1655	11.2736	0.49153	0.0739:0.2408:0.6853:0.0	.	7	O95140	MFN2_HUMAN	Q	7	ENSP00000416338:R7Q;ENSP00000235329:R7Q;ENSP00000412023:R7Q	ENSP00000235329:R7Q	R	+	2	0	MFN2	11971832	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.283000	0.65621	0.767000	0.33267	-0.175000	0.13238	CGA		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		46	37	0	0	0	1	0	46	37				
SLC26A8	116369	broad.mit.edu	37	6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A	rs201650524		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35980127G>A	ENST00000490799.1	-	3	564	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(211-213)Cga>Tga		solute carrier family 26 (anion exchanger), member 8							145.0	133.0	137.0					6																	35980127		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980127G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.211C>T	6.37:g.35980127G>A	ENSP00000417638:p.Arg71*					SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.R71*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.R71*	p.R71*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	564	-			71						Nonsense_Mutation	SNP	ENST00000490799.1	37	c.211C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805946	0.96967	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	.	.	.	5.81	4.66	0.58398	.	0.619767	0.15937	N	0.237391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9731	0.41765	0.0:0.0:0.1799:0.8201	.	.	.	.	X	71;71;71;157	.	ENSP00000347778:R71X	R	-	1	2	SLC26A8	36088105	0.005000	0.15991	0.170000	0.22879	0.859000	0.49053	1.088000	0.30877	1.035000	0.39972	-0.271000	0.10264	CGA		0.468	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			16	43	0	0	0	1	0	16	43				
ZNF234	10780	broad.mit.edu	37	19	44661065	44661065	+	Missense_Mutation	SNP	G	G	A	rs374520249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44661065G>A	ENST00000426739.2	+	6	1154	c.896G>A	c.(895-897)cGt>cAt	p.R299H	ZNF234_ENST00000592437.1_Missense_Mutation_p.R299H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AACTTCCGTCGTAGATCAGCA	0.428																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(895-897)cGt>cAt		zinc finger protein 234		G	HIS/ARG,HIS/ARG	0,4392		0,0,2196	134.0	143.0	140.0		896,896	0.1	0.0	19		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	299/701,299/701	44661065	1,12991	2196	4300	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661065G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.896G>A	19.37:g.44661065G>A	ENSP00000400878:p.Arg299His					ZNF234_ENST00000592437.1_Missense_Mutation_p.R299H	p.R299H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1154	+		Prostate(69;0.0435)	299					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.896G>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255619	0.39896	0.0	1.16E-4	ENSG00000167380	ENST00000426739	T	0.07327	3.2	3.98	0.114	0.14639	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.41124	1.26	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31280	-0.9949	9	0.15066	T	0.55	.	2.6012	0.04867	0.2909:0.0:0.3434:0.3657	.	299	Q14588	ZN234_HUMAN	H	299	ENSP00000400878:R299H	ENSP00000400878:R299H	R	+	2	0	ZNF226	49352905	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.755000	0.01814	0.397000	0.25310	0.586000	0.80456	CGT		0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			35	68	0	0	0	1	0	35	68				
LDB3	11155	broad.mit.edu	37	10	88441268	88441268	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88441268C>A	ENST00000361373.4	+	4	418	c.397C>A	c.(397-399)Cca>Aca	p.P133T	LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.P133T|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.P133T|LDB3_ENST00000542786.1_Missense_Mutation_p.P133T|LDB3_ENST00000310944.6_Missense_Mutation_p.P133T|LDB3_ENST00000458213.2_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCAGGCACCCCAGGCACCCC	0.736																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(397-399)Cca>Aca		LIM domain binding 3							34.0	35.0	35.0					10																	88441268		2199	4297	6496	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441268C>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.397C>A	10.37:g.88441268C>A	ENSP00000355296:p.Pro133Thr					LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.P133T|LDB3_ENST00000361373.4_Missense_Mutation_p.P133T|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.P133T|LDB3_ENST00000372056.4_Missense_Mutation_p.P133T|LDB3_ENST00000372066.3_Intron	p.P133T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			5	542	+			133						Missense_Mutation	SNP	ENST00000361373.4	37	c.397C>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	4.066	0.010093	0.07912	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.52057	0.79;1.03;1.22;0.68;1.14	4.81	1.91	0.25777	.	0.573217	0.13262	N	0.401211	T	0.33614	0.0869	L	0.50333	1.59	0.09310	N	1	B;B;P;B;B	0.36282	0.008;0.01;0.546;0.008;0.156	B;B;B;B;B	0.35510	0.011;0.016;0.204;0.011;0.197	T	0.19745	-1.0296	10	0.07644	T	0.81	.	5.9629	0.19308	0.0:0.5843:0.125:0.2907	.	133;133;133;133;133	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	T	133	ENSP00000401437:P133T;ENSP00000361126:P133T;ENSP00000311913:P133T;ENSP00000355296:P133T;ENSP00000438866:P133T	ENSP00000311913:P133T	P	+	1	0	LDB3	88431248	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	0.625000	0.24477	0.175000	0.19841	0.563000	0.77884	CCA		0.736	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			13	35	1	0	0.00010058	1	0.000103117	13	35				
IRF9	10379	broad.mit.edu	37	14	24633987	24633987	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24633987C>T	ENST00000396864.3	+	7	1101	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	IRF9_ENST00000557894.1_Silent_p.L170L|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	272					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCGCCTGCTGAGCCAGCT	0.662																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(814-816)Ctg>Ttg		interferon regulatory factor 9							48.0	48.0	48.0					14																	24633987		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633987C>T	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.814C>T	14.37:g.24633987C>T						IRF9_ENST00000557894.1_Silent_p.L170L|RP11-468E2.4_ENST00000558468.1_3'UTR	p.L272L	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	1101	+			272					D3DS61	Silent	SNP	ENST00000396864.3	37	c.814C>T	CCDS9615.1																																																																																				0.662	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			26	30	0	0	0	1	0	26	30				
NMT1	4836	broad.mit.edu	37	17	43180471	43180471	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43180471C>T	ENST00000592782.1	+	10	1277	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	NMT1_ENST00000258960.2_Silent_p.I382I			P30419	NMT1_HUMAN	N-myristoyltransferase 1	382					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGAATATCATCGACACTTTCG	0.582																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1144-1146)atC>atT		N-myristoyltransferase 1							130.0	123.0	125.0					17																	43180471		2203	4300	6503	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43180471C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1146C>T	17.37:g.43180471C>T						NMT1_ENST00000258960.2_Silent_p.I382I	p.I382I			P30419	NMT1_HUMAN			10	1277	+		Prostate(33;0.155)	382					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1146C>T	CCDS11494.1																																																																																				0.582	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		11	35	0	0	0	1	0	11	35				
ZNF77	58492	broad.mit.edu	37	19	2933820	2933820	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2933820G>T	ENST00000314531.4	-	4	1397	c.1305C>A	c.(1303-1305)ccC>ccA	p.P435P		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TACACTCAAAGGGCTTCTCTC	0.507																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1303-1305)ccC>ccA		zinc finger protein 77							95.0	80.0	85.0					19																	2933820		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933820G>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1305C>A	19.37:g.2933820G>T							p.P435P	NM_021217.2	NP_067040.1	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1397	-			435					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.1305C>A	CCDS12099.1																																																																																				0.507	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		15	44	1	0	1.49906e-05	1	1.54943e-05	15	44				
CLIP2	7461	broad.mit.edu	37	7	73795146	73795146	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73795146C>T	ENST00000395060.1	+	10	2432	c.2432C>T	c.(2431-2433)tCg>tTg	p.S811L	CLIP2_ENST00000361545.5_Missense_Mutation_p.S776L|CLIP2_ENST00000223398.6_Missense_Mutation_p.S811L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	811						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ATGATTGAGTCGAATGACATT	0.607																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2431-2433)tCg>tTg		CAP-GLY domain containing linker protein 2							105.0	108.0	107.0					7																	73795146		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73795146C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2432C>T	7.37:g.73795146C>T	ENSP00000378500:p.Ser811Leu					CLIP2_ENST00000395060.1_Missense_Mutation_p.S811L|CLIP2_ENST00000361545.5_Missense_Mutation_p.S776L	p.S811L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			11	2759	+			811					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2432C>T	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.212|7.212	0.595715|0.595715	0.13875|0.13875	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|T;T;T	.|0.59364	.|0.27;0.28;0.27	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.646604	.|0.15298	.|N	.|0.269780	.|T	.|0.33673	.|0.0871	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.39737	.|0.645;0.685;0.557	.|B;B;B	.|0.25614	.|0.062;0.062;0.041	.|T	.|0.20306	.|-1.0279	.|10	.|0.06236	.|T	.|0.91	-6.8122|-6.8122	13.9888|13.9888	0.64353|0.64353	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|776;776;811	.|A7E2F7;Q9UDT6-2;Q9UDT6	.|.;.;CLIP2_HUMAN	X|L	47|811;811;776;811	.|ENSP00000223398:S811L;ENSP00000355151:S776L;ENSP00000378500:S811L	.|ENSP00000223398:S811L	R|S	+|+	1|2	2|0	CLIP2|CLIP2	73433082|73433082	0.996000|0.996000	0.38824|0.38824	0.177000|0.177000	0.23020|0.23020	0.359000|0.359000	0.29487|0.29487	3.997000|3.997000	0.57016|0.57016	2.310000|2.310000	0.77875|0.77875	0.644000|0.644000	0.83932|0.83932	CGA|TCG		0.607	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		55	76	0	0	0	1	0	55	76				
KLHL3	26249	broad.mit.edu	37	5	137013258	137013258	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137013258C>A	ENST00000309755.4	-	6	1055	c.612G>T	c.(610-612)aaG>aaT	p.K204N	KLHL3_ENST00000394937.3_Missense_Mutation_p.K204N|KLHL3_ENST00000541417.1_Missense_Mutation_p.K84N|KLHL3_ENST00000506491.1_Missense_Mutation_p.K122N|KLHL3_ENST00000508657.1_Missense_Mutation_p.K172N	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	204	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AAACGGTCAGCTTGTCGCTGG	0.493																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(514-516)aaG>aaT		kelch-like family member 3							125.0	119.0	121.0					5																	137013258		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137013258C>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.612G>T	5.37:g.137013258C>A	ENSP00000312397:p.Lys204Asn					KLHL3_ENST00000541417.1_Missense_Mutation_p.K84N|KLHL3_ENST00000394937.3_Missense_Mutation_p.K204N|KLHL3_ENST00000506491.1_Missense_Mutation_p.K122N|KLHL3_ENST00000309755.4_Missense_Mutation_p.K204N	p.K172N	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	6	1230	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	204					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.516G>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687798	0.48097	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.65	1.9	0.25705	BTB/Kelch-associated (2);	0.050650	0.85682	D	0.000000	T	0.66577	0.2803	L	0.28344	0.845	0.58432	D	0.999999	B;B;D	0.57257	0.037;0.037;0.979	B;B;D	0.64877	0.098;0.098;0.93	T	0.65307	-0.6200	10	0.62326	D	0.03	.	9.5072	0.39053	0.0:0.7711:0.0:0.2289	.	164;204;204	D6RH21;Q9UH77;Q8N4I8	.;KLHL3_HUMAN;.	N	122;172;204;84;164;204	ENSP00000424828:K122N;ENSP00000422099:K172N;ENSP00000312397:K204N;ENSP00000440319:K84N;ENSP00000426173:K164N;ENSP00000378395:K204N	ENSP00000312397:K204N	K	-	3	2	KLHL3	137041157	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.281000	0.33214	0.293000	0.22520	0.557000	0.71058	AAG		0.493	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			39	51	1	0	2.00842e-17	1	2.21064e-17	39	51				
CCDC74B	91409	broad.mit.edu	37	2	130897505	130897505	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130897505C>T	ENST00000310463.6	-	7	1103	c.966G>A	c.(964-966)acG>acA	p.T322T	CCDC74B_ENST00000392984.3_Silent_p.T424T|CCDC74B_ENST00000409943.3_Silent_p.T256T|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	322										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGGGGAAATGCGTGGCTTCTT	0.632																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1270-1272)acG>acA		coiled-coil domain containing 74B							35.0	37.0	36.0					2																	130897505		2200	4294	6494	SO:0001819	synonymous_variant	91409							g.chr2:130897505C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.966G>A	2.37:g.130897505C>T						CCDC74B_ENST00000310463.6_Silent_p.T322T|CCDC74B_ENST00000409943.3_Silent_p.T256T	p.T424T			Q96LY2	CC74B_HUMAN			6	2015	-	Colorectal(110;0.1)		322					Q6NW18	Silent	SNP	ENST00000310463.6	37	c.1272G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	6.380	0.438169	0.12104	.	.	ENSG00000152076	ENST00000409488	.	.	.	3.78	1.93	0.25924	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.33891	D	0.637397	.	.	.	.	.	.	T	0.57843	-0.7741	5	0.44086	T	0.13	.	6.3442	0.21341	0.0:0.7622:0.0:0.2378	.	.	.	.	H	220	.	ENSP00000386250:R220H	R	-	2	0	CCDC74B	130613975	0.018000	0.18449	0.133000	0.22050	0.075000	0.17131	0.216000	0.17585	0.372000	0.24591	0.450000	0.29827	CGC		0.632	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		16	23	0	0	0	1	0	16	23				
TRAK1	22906	broad.mit.edu	37	3	42264875	42264875	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42264875G>A	ENST00000327628.5	+	16	2908	c.2508G>A	c.(2506-2508)gtG>gtA	p.V836V	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000396175.1_Silent_p.V778V|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	836					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGACCGACGTGTCCGTCTCCA	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2506-2508)gtG>gtA		trafficking protein, kinesin binding 1							41.0	45.0	44.0					3																	42264875		2018	4191	6209	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264875G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2508G>A	3.37:g.42264875G>A						TRAK1_ENST00000396175.1_Silent_p.V778V|TRAK1_ENST00000487159.1_3'UTR	p.V836V	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			16	2908	+			836					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.2508G>A	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		4	15	0	0	0	1	0	4	15				
ENTPD4	9583	broad.mit.edu	37	8	23297339	23297339	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23297339C>T	ENST00000358689.4	-	9	1207	c.972G>A	c.(970-972)acG>acA	p.T324T	ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000356206.6_Silent_p.T316T|ENTPD4_ENST00000417069.2_Silent_p.T316T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	324					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACCCAAGAAACGTGGCCACAT	0.423																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(970-972)acG>acA		ectonucleoside triphosphate diphosphohydrolase 4							187.0	163.0	171.0					8																	23297339		2203	4300	6503	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23297339C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.972G>A	8.37:g.23297339C>T						ENTPD4_ENST00000417069.2_Silent_p.T316T|ENTPD4_ENST00000356206.6_Silent_p.T316T	p.T324T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	9	1207	-		Prostate(55;0.114)	324					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.972G>A	CCDS6041.1																																																																																				0.423	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		26	35	0	0	0	1	0	26	35				
LANCL1	10314	broad.mit.edu	37	2	211319934	211319934	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:211319934G>A	ENST00000443314.1	-	3	646	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	LANCL1_ENST00000431941.2_Missense_Mutation_p.R102C|LANCL1_ENST00000233714.4_Missense_Mutation_p.R102C|LANCL1_ENST00000441020.3_Missense_Mutation_p.R102C|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.R102C|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	102					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GTGATGGAGCGCTTGGTTAAG	0.483																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(304-306)Cgc>Tgc		LanC lantibiotic synthetase component C-like 1 (bacterial)							116.0	108.0	110.0					2																	211319934		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211319934G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.304C>T	2.37:g.211319934G>A	ENSP00000388713:p.Arg102Cys					AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.R102C|LANCL1_ENST00000441020.3_Missense_Mutation_p.R102C|LANCL1_ENST00000233714.4_Missense_Mutation_p.R102C|LANCL1_ENST00000450366.2_Missense_Mutation_p.R102C	p.R102C			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	3	646	-			102						Missense_Mutation	SNP	ENST00000443314.1	37	c.304C>T	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195321	0.94960	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.65	5.65	0.86999	Six-hairpin glycosidase-like (1);	0.183617	0.64402	D	0.000010	T	0.66674	0.2813	M	0.91872	3.25	0.80722	D	1	D	0.63880	0.993	P	0.52454	0.699	T	0.74839	-0.3528	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	102	O43813	LANC1_HUMAN	C	102	ENSP00000388713:R102C;ENSP00000393323:R102C;ENSP00000393597:R102C;ENSP00000233714:R102C;ENSP00000397646:R102C;ENSP00000396518:R102C	ENSP00000233714:R102C	R	-	1	0	LANCL1	211028179	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	4.731000	0.62022	2.941000	0.99782	0.655000	0.94253	CGC		0.483	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		28	39	0	0	0	1	0	28	39				
LAMA1	284217	broad.mit.edu	37	18	6985305	6985305	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:6985305G>A	ENST00000389658.3	-	39	5684	c.5591C>T	c.(5590-5592)gCa>gTa	p.A1864V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1864	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGGTCGACTGCGTTCCTTTG	0.498																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5590-5592)gCa>gTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201.0	166.0	178.0					18																	6985305		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985305G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5591C>T	18.37:g.6985305G>A	ENSP00000374309:p.Ala1864Val						p.A1864V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5684	-		Colorectal(10;0.172)	1864			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5591C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055381	0.07362	.	.	ENSG00000101680	ENST00000389658	T	0.18810	2.19	5.58	3.8	0.43715	.	0.474446	0.21904	N	0.067409	T	0.14313	0.0346	L	0.31664	0.95	0.23386	N	0.997783	B	0.13594	0.008	B	0.11329	0.006	T	0.21930	-1.0231	10	0.28530	T	0.3	.	8.7167	0.34416	0.2522:0.0:0.7478:0.0	.	1864	P25391	LAMA1_HUMAN	V	1864	ENSP00000374309:A1864V	ENSP00000374309:A1864V	A	-	2	0	LAMA1	6975305	0.641000	0.27251	0.006000	0.13384	0.003000	0.03518	1.741000	0.38238	0.728000	0.32382	0.655000	0.94253	GCA		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		27	139	0	0	0	1	0	27	139				
GRAMD2	196996	broad.mit.edu	37	15	72454678	72454678	+	Missense_Mutation	SNP	G	G	A	rs144563180		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72454678G>A	ENST00000309731.7	-	11	1010	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	333						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CGAGAAATACGGAACGCCAGG	0.478																																						ENST00000309731.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(997-999)Cgt>Tgt		GRAM domain containing 2							88.0	81.0	83.0					15																	72454678		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72454678G>A	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.997C>T	15.37:g.72454678G>A	ENSP00000311657:p.Arg333Cys						p.R333C	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN			11	1010	-			333					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.997C>T	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273125	0.59649	.	.	ENSG00000175318	ENST00000309731	T	0.56611	0.45	5.26	5.26	0.73747	.	0.081273	0.50627	D	0.000112	T	0.70046	0.3179	L	0.61218	1.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72997	-0.4121	10	0.87932	D	0	.	15.6291	0.76888	0.0:0.0:1.0:0.0	.	333	Q8IUY3	GRAM2_HUMAN	C	333	ENSP00000311657:R333C	ENSP00000311657:R333C	R	-	1	0	GRAMD2	70241732	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	2.988000	0.49386	2.449000	0.82847	0.563000	0.77884	CGT		0.478	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		14	19	0	0	0	1	0	14	19				
CREB1	1385	broad.mit.edu	37	2	208442363	208442363	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208442363C>T	ENST00000432329.2	+	8	1116	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	CREB1_ENST00000374397.4_Missense_Mutation_p.R178C|CREB1_ENST00000430624.1_Missense_Mutation_p.R275C|CREB1_ENST00000353267.3_Missense_Mutation_p.R275C	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	289	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	GAGAGAGGTCCGTCTAATGAA	0.453			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	ENST00000432329.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(865-867)Cgt>Tgt		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						122.0	108.0	112.0					2																	208442363		2203	4300	6503	SO:0001583	missense	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208442363C>T	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.865C>T	2.37:g.208442363C>T	ENSP00000387699:p.Arg289Cys					CREB1_ENST00000430624.1_Missense_Mutation_p.R275C|CREB1_ENST00000374397.4_Missense_Mutation_p.R178C|CREB1_ENST00000353267.3_Missense_Mutation_p.R275C	p.R289C	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	8	1116	+			289					P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	37	c.865C>T	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137018	0.77775	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000374397;ENST00000448277;ENST00000455757	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.14	5.86	5.86	0.93980	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93148	0.6547	10	0.87932	D	0	-9.4566	14.9532	0.71091	0.1429:0.8571:0.0:0.0	.	275;289	Q53X93;P16220	.;CREB1_HUMAN	C	275;289;275;178;235;102	ENSP00000405539:R275C;ENSP00000387699:R289C;ENSP00000236995:R275C;ENSP00000363518:R178C;ENSP00000405711:R235C;ENSP00000401803:R102C	ENSP00000236995:R275C	R	+	1	0	CREB1	208150608	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.930000	0.70104	2.774000	0.95407	0.585000	0.79938	CGT		0.453	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		4	17	0	0	0	1	0	4	17				
MCM3	4172	broad.mit.edu	37	6	52141945	52141945	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52141945G>A	ENST00000229854.7	-	8	1161	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A316V|MCM3_ENST00000596288.1_Missense_Mutation_p.A407V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	362	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGCTCGGGGTGCAGTGCAAAG	0.602																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1219-1221)gCa>gTa		minichromosome maintenance complex component 3							63.0	61.0	62.0					6																	52141945		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141945G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1085C>T	6.37:g.52141945G>A	ENSP00000229854:p.Ala362Val					MCM3_ENST00000229854.7_Missense_Mutation_p.A362V|MCM3_ENST00000419835.2_Missense_Mutation_p.A316V|MCM3_ENST00000476448.1_5'UTR	p.A407V	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			8	1247	-	Lung NSC(77;0.0931)		362			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1220C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.747527	0.96882	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11169	2.8;2.8	5.36	5.36	0.76844	ATPase, AAA+ type, core (1);	0.047409	0.85682	D	0.000000	T	0.37376	0.1001	M	0.90922	3.16	0.80722	D	1	P;D	0.89917	0.933;1.0	P;D	0.79784	0.612;0.993	T	0.46735	-0.9170	10	0.87932	D	0	-14.558	19.2924	0.94105	0.0:0.0:1.0:0.0	.	316;362	B4DUQ9;P25205	.;MCM3_HUMAN	V	362;316	ENSP00000229854:A362V;ENSP00000388647:A316V	ENSP00000229854:A362V	A	-	2	0	MCM3	52249904	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.633000	0.98432	2.783000	0.95769	0.655000	0.94253	GCA		0.602	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			18	21	0	0	0	1	0	18	21				
PPP2R5A	5525	broad.mit.edu	37	1	212520718	212520718	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212520718G>A	ENST00000261461.2	+	6	1308	c.734G>A	c.(733-735)gGt>gAt	p.G245D	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G188D	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	245					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		CATTTCAATGGTGTTGCTGAA	0.294																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(733-735)gGt>gAt		protein phosphatase 2, regulatory subunit B', alpha							92.0	93.0	92.0					1																	212520718		2202	4300	6502	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212520718G>A	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.734G>A	1.37:g.212520718G>A	ENSP00000261461:p.Gly245Asp					PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G188D	p.G245D	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	6	1308	+			245					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.734G>A	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000365	0.93227	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89448	0.6718	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.92234	0.5795	9	0.87932	D	0	-14.6459	19.4713	0.94963	0.0:0.0:1.0:0.0	.	188;245	B7Z7L2;Q15172	.;2A5A_HUMAN	D	245;245;188	.	ENSP00000261461:G245D	G	+	2	0	PPP2R5A	210587341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.587000	0.87381	0.563000	0.77884	GGT		0.294	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		7	21	0	0	0	1	0	7	21				
ACP1	52	broad.mit.edu	37	2	272206	272206	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:272206C>T	ENST00000272065.5	+	3	324				ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272067.6_Silent_p.S44S|ACP1_ENST00000407983.3_Missense_Mutation_p.A96V|ACP1_ENST00000405233.1_Missense_Mutation_p.A54V|ACP1_ENST00000439645.2_Silent_p.S44S	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S44S(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TCATTGACAGCGGTGCTGTTT	0.542																																						ENST00000405233.1																			1	Substitution - coding silent(1)	p.S44S(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(160-162)gCg>gTg		acid phosphatase 1, soluble							177.0	143.0	155.0					2																	272206		2203	4300	6503	SO:0001627	intron_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:272206C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.231+56C>T	2.37:g.272206C>T						ACP1_ENST00000439645.2_Silent_p.S44S|ACP1_ENST00000272067.6_Silent_p.S44S|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000407983.3_Missense_Mutation_p.A96V|ACP1_ENST00000272065.5_Intron	p.A54V			P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	4	200	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	0					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.161C>T	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348426	0.24426	.	.	ENSG00000143727	ENST00000407983;ENST00000405233;ENST00000449425	T;T	0.52754	0.9;0.65	5.87	-2.49	0.06403	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.21147	N	0.999773	B	0.14012	0.009	B	0.06405	0.002	T	0.20405	-1.0276	8	0.30078	T	0.28	-13.0874	12.0689	0.53605	0.0:0.5082:0.0:0.4918	.	96	B5MCC7	.	V	96;54;54	ENSP00000385404:A96V;ENSP00000384307:A54V	ENSP00000384307:A54V	A	+	2	0	ACP1	262206	0.998000	0.40836	0.788000	0.31933	0.995000	0.86356	0.458000	0.21892	-0.454000	0.07066	-0.137000	0.14449	GCG		0.542	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			16	13	0	0	0	1	0	16	13				
MYO1C	4641	broad.mit.edu	37	17	1386310	1386310	+	Missense_Mutation	SNP	G	G	A	rs200048542		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1386310G>A	ENST00000575158.1	-	4	462	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000359786.5_Missense_Mutation_p.R131C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C			Q12965	MYO1E_HUMAN	myosin IC	103	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGTCCCGACGCTCCGTGCGC	0.672																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(391-393)Cgt>Tgt		myosin IC		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	26.0	25.0	26.0		391,334,286	4.4	1.0	17		26	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	180,180,180	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	131/1064,112/1045,96/1029	1386310	3,13001	2203	4299	6502	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386310G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.286C>T	17.37:g.1386310G>A	ENSP00000459174:p.Arg96Cys					MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R96C	p.R131C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	715	-			131			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.391C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428657	0.43122	2.27E-4	2.33E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.43	0.53597	Myosin head, motor domain (2);	0.098876	0.64402	D	0.000005	D	0.82770	0.5109	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.994	P;P;P	0.61658	0.892;0.892;0.827	T	0.82261	-0.0545	10	0.39692	T	0.17	.	10.5968	0.45343	0.0:0.0:0.6223:0.3777	.	107;131;112	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	131;112;112;96;107;96	ENSP00000352834:R131C;ENSP00000412197:R112C;ENSP00000354283:R96C;ENSP00000437685:R107C	ENSP00000352834:R131C	R	-	1	0	MYO1C	1333060	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.200000	0.32247	2.548000	0.85928	0.462000	0.41574	CGT		0.672	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			7	9	0	0	0	1	0	7	9				
ZAN	7455	broad.mit.edu	37	7	100373386	100373386	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100373386C>T	ENST00000348028.3	+	0	6287				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATCAAGATCGGGGTGCAAG	0.493																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							105.0	102.0	103.0					7																	100373386		2069	4211	6280			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373386C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373386C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6268	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.493	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		18	23	0	0	0	1	0	18	23				
CHD5	26038	broad.mit.edu	37	1	6202613	6202613	+	Missense_Mutation	SNP	G	G	A	rs201805131		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6202613G>A	ENST00000262450.3	-	14	2195	c.2096C>T	c.(2095-2097)aCa>aTa	p.T699I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGGTGCAGTGTGCCGCCTGT	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2095-2097)aCa>aTa		chromodomain helicase DNA binding protein 5							130.0	91.0	104.0					1																	6202613		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202613G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2096C>T	1.37:g.6202613G>A	ENSP00000262450:p.Thr699Ile					CHD5_ENST00000378021.1_5'UTR	p.T699I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2195	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	699					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2096C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476527	0.44044	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93659	-3.26	3.43	3.43	0.39272	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.95072	0.8404	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	P	0.57911	0.829	D	0.95153	0.8274	10	0.51188	T	0.08	-16.9347	15.3972	0.74805	0.0:0.0:1.0:0.0	.	699	Q8TDI0	CHD5_HUMAN	I	699;215;107;107	ENSP00000262450:T699I	ENSP00000262450:T699I	T	-	2	0	CHD5	6125200	1.000000	0.71417	0.985000	0.45067	0.782000	0.44232	7.536000	0.82023	1.895000	0.54865	0.561000	0.74099	ACA		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		19	41	0	0	0	1	0	19	41				
PAK6	56924	broad.mit.edu	37	15	40558599	40558599	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40558599G>T	ENST00000542403.2	+	3	872	c.761G>T	c.(760-762)aGc>aTc	p.S254I	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.S254I|PAK6_ENST00000453867.1_Missense_Mutation_p.S254I|PAK6_ENST00000560346.1_Missense_Mutation_p.S254I|PAK6_ENST00000455577.2_Missense_Mutation_p.S254I|PAK6_ENST00000260404.4_Missense_Mutation_p.S254I|PAK6_ENST00000559901.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	254	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACCCGGGAGAGCAGCCTGAAG	0.647																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(760-762)aGc>aTc		p21 protein (Cdc42/Rac)-activated kinase 6							36.0	38.0	37.0					15																	40558599		2199	4296	6495	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558599G>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.761G>T	15.37:g.40558599G>T	ENSP00000439597:p.Ser254Ile					PAK6_ENST00000542403.2_Missense_Mutation_p.S254I|PAK6_ENST00000560346.1_Missense_Mutation_p.S254I|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.S254I|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.S254I|PAK6_ENST00000453867.1_Missense_Mutation_p.S254I	p.S254I	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1673	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	254			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.761G>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073956	0.36566	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74842	-0.84;-0.84;-0.88;-0.84;-0.84	5.35	0.0289	0.14160	.	0.869065	0.10345	N	0.685876	T	0.56848	0.2013	N	0.19112	0.55	0.36696	D	0.879835	B;B	0.21753	0.036;0.06	B;B	0.31686	0.063;0.134	T	0.46386	-0.9195	10	0.18710	T	0.47	.	5.9268	0.19116	0.4999:0.1358:0.3643:0.0	.	254;254	Q9NQU5;G5E9R2	PAK6_HUMAN;.	I	254	ENSP00000406873:S254I;ENSP00000401153:S254I;ENSP00000409465:S254I;ENSP00000260404:S254I;ENSP00000439597:S254I	ENSP00000260404:S254I	S	+	2	0	PAK6	38345891	0.927000	0.31430	0.977000	0.42913	0.949000	0.60115	0.315000	0.19451	0.019000	0.15079	0.462000	0.41574	AGC		0.647	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	14	1	0	3.59834e-05	1	3.7043e-05	6	14				
MTMR4	9110	broad.mit.edu	37	17	56582922	56582922	+	Silent	SNP	G	G	A	rs201483541		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56582922G>A	ENST00000323456.5	-	11	1138	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	MTMR4_ENST00000579925.1_Silent_p.V338V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	338	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATGAACACGACCTCACAGT	0.552																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(1012-1014)gtC>gtT		myotubularin related protein 4							131.0	108.0	116.0					17																	56582922		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582922G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1014C>T	17.37:g.56582922G>A						MTMR4_ENST00000579925.1_Silent_p.V338V	p.V338V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			11	1138	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		338			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.1014C>T	CCDS11608.1																																																																																				0.552	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		21	50	0	0	0	1	0	21	50				
TP63	8626	broad.mit.edu	37	3	189526227	189526227	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:189526227C>T	ENST00000264731.3	+	4	580	c.491C>T	c.(490-492)gCc>gTc	p.A164V	TP63_ENST00000440651.2_Missense_Mutation_p.A164V|TP63_ENST00000392460.3_Missense_Mutation_p.A164V|TP63_ENST00000392461.3_Missense_Mutation_p.A70V|TP63_ENST00000354600.5_Missense_Mutation_p.A70V|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.A70V|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.A70V|TP63_ENST00000392463.2_Missense_Mutation_p.A70V|TP63_ENST00000418709.2_Missense_Mutation_p.A164V|TP63_ENST00000320472.5_Missense_Mutation_p.A164V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	164					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCACCCGCCATCCCCTCC	0.637										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(490-492)gCc>gTc		tumor protein p63							170.0	123.0	139.0					3																	189526227		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526227C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.491C>T	3.37:g.189526227C>T	ENSP00000264731:p.Ala164Val	HNSCC(45;0.13)				TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.A70V|TP63_ENST00000392463.2_Missense_Mutation_p.A70V|TP63_ENST00000440651.2_Missense_Mutation_p.A164V|TP63_ENST00000418709.2_Missense_Mutation_p.A164V|TP63_ENST00000437221.1_Missense_Mutation_p.A70V|TP63_ENST00000392461.3_Missense_Mutation_p.A70V|TP63_ENST00000354600.5_Missense_Mutation_p.A70V|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.A164V|TP63_ENST00000392460.3_Missense_Mutation_p.A164V	p.A164V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	580	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		164					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.491C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204743	0.38905	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99758	-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65	5.83	4.95	0.65309	p53, DNA-binding domain (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.106561	0.64402	D	0.000004	D	0.98270	0.9427	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.22414	0.069;0.069;0.035;0.035;0.035;0.044;0.069;0.047;0.069	B;B;B;B;B;B;B;B;B	0.35813	0.134;0.134;0.043;0.035;0.016;0.016;0.134;0.211;0.134	D	0.99928	1.1301	9	.	.	.	-7.0778	16.073	0.80948	0.0:0.8659:0.1341:0.0	.	164;164;70;70;70;70;164;164;164	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	V	164;164;164;164;164;70;70;70;70;70;70	ENSP00000264731:A164V;ENSP00000407144:A164V;ENSP00000317510:A164V;ENSP00000376253:A164V;ENSP00000394337:A164V;ENSP00000346614:A70V;ENSP00000401661:A70V;ENSP00000392488:A70V;ENSP00000376256:A70V;ENSP00000376254:A70V;ENSP00000389485:A70V	.	A	+	2	0	TP63	191008921	1.000000	0.71417	0.975000	0.42487	0.250000	0.25880	7.818000	0.86416	1.461000	0.47929	-0.176000	0.13171	GCC		0.637	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		10	22	0	0	0	1	0	10	22				
SFI1	9814	broad.mit.edu	37	22	32009508	32009508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32009508C>T	ENST00000400288.2	+	26	2839	c.2734C>T	c.(2734-2736)Cag>Tag	p.Q912*	SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q857*|SFI1_ENST00000432498.1_Nonsense_Mutation_p.Q881*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q759*	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	912					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCCCAGCAGCAGGTCCAGGT	0.677																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2641-2643)Cag>Tag		Sfi1 homolog, spindle assembly associated (yeast)							8.0	10.0	10.0					22																	32009508		2079	4181	6260	SO:0001587	stop_gained	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32009508C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2734C>T	22.37:g.32009508C>T	ENSP00000383145:p.Gln912*					SFI1_ENST00000443011.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.Q759*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.Q912*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.Q830*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.Q857*|SFI1_ENST00000443326.1_Nonsense_Mutation_p.Q830*	p.Q881*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			25	3034	+			912					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	c.2641C>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	40	8.243837	0.98722	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	.	.	.	5.42	5.42	0.78866	.	0.136049	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7803	0.88522	0.0:1.0:0.0:0.0	.	.	.	.	X	881;857;830;661;759;759;830;912;495	.	ENSP00000383145:Q912X	Q	+	1	0	SFI1	30339508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	2.545000	0.85829	0.563000	0.77884	CAG		0.677	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		4	5	0	0	0	1	0	4	5				
LSM3	27258	broad.mit.edu	37	3	14225447	14225447	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14225447A>G	ENST00000306024.3	+	3	646	c.143A>G	c.(142-144)cAa>cGa	p.Q48R		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	48					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						GCTTATGATCAACATTTAAAT	0.294																																						ENST00000306024.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(1)	4						c.(142-144)cAa>cGa		LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)							90.0	87.0	88.0					3																	14225447		2203	4298	6501	SO:0001583	missense	27258				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding	g.chr3:14225447A>G	AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.143A>G	3.37:g.14225447A>G	ENSP00000302160:p.Gln48Arg						p.Q48R	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN			3	646	+			48					Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	ENST00000306024.3	37	c.143A>G	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261981	0.80358	.	.	ENSG00000170860	ENST00000306024	T	0.45668	0.89	5.36	5.36	0.76844	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.67700	2.07	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	T	0.55860	-0.8074	10	0.06625	T	0.88	-3.686	15.3112	0.74035	1.0:0.0:0.0:0.0	.	48	P62310	LSM3_HUMAN	R	48	ENSP00000302160:Q48R	ENSP00000302160:Q48R	Q	+	2	0	LSM3	14200451	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	8.367000	0.90113	2.158000	0.67659	0.533000	0.62120	CAA		0.294	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463		10	67	0	0	0	1	0	10	67				
ZNF219	51222	broad.mit.edu	37	14	21561142	21561142	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21561142C>T	ENST00000360947.3	-	3	725	c.314G>A	c.(313-315)cGc>cAc	p.R105H	ZNF219_ENST00000451119.2_Missense_Mutation_p.R105H|ZNF219_ENST00000421093.2_Missense_Mutation_p.R105H|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	105					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTGGTGTGTGCGCAGGTGCGA	0.711											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(313-315)cGc>cAc		zinc finger protein 219							12.0	14.0	13.0					14																	21561142		2192	4271	6463	SO:0001583	missense	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21561142C>T	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.314G>A	14.37:g.21561142C>T	ENSP00000354206:p.Arg105His		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_Missense_Mutation_p.R105H|ZNF219_ENST00000421093.2_Missense_Mutation_p.R105H	p.R105H	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	725	-	all_cancers(95;0.00185)		105					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.314G>A	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303530	0.81136	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270;ENST00000554478;ENST00000556174;ENST00000554923;ENST00000553296	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.085998	0.47093	D	0.000245	T	0.73466	0.3590	M	0.68593	2.085	0.39459	D	0.967533	D	0.89917	1.0	D	0.73380	0.98	T	0.77787	-0.2457	10	0.87932	D	0	-19.011	15.432	0.75108	0.0:1.0:0.0:0.0	.	105	Q9P2Y4	ZN219_HUMAN	H	105;105;105;105;151;105;142;105	ENSP00000354206:R105H;ENSP00000388558:R105H;ENSP00000392401:R105H;ENSP00000450803:R105H;ENSP00000451212:R151H;ENSP00000450609:R105H;ENSP00000451890:R142H;ENSP00000450900:R105H	ENSP00000354206:R105H	R	-	2	0	ZNF219	20630982	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.372000	0.52387	2.495000	0.84180	0.655000	0.94253	CGC		0.711	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			4	13	0	0	0	1	0	4	13				
OR5J2	282775	broad.mit.edu	37	11	55944981	55944981	+	Silent	SNP	C	C	T	rs142214796		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55944981C>T	ENST00000312298.1	+	1	888	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAAACAAGGACGTAAAGGAGG	0.383													.|||	1	0.000199681	0.0	0.0	5008	,	,		21790	0.001		0.0	False		,,,				2504	0.0					ENST00000312298.1																			2	Substitution - coding silent(2)	p.D296D(2)	large_intestine(1)|kidney(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(886-888)gaC>gaT		olfactory receptor, family 5, subfamily J, member 2							69.0	76.0	74.0					11																	55944981		2201	4295	6496	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944981C>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.888C>T	11.37:g.55944981C>T							p.D296D	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	888	+	Esophageal squamous(21;0.00693)		296					Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.888C>T	CCDS31522.1																																																																																				0.383	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		5	15	0	0	0	1	0	5	15				
C19orf40	91442	broad.mit.edu	37	19	33464132	33464132	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33464132C>A	ENST00000588258.1	+	2	140	c.30C>A	c.(28-30)ggC>ggA	p.G10G	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000589646.1_Intron|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Silent_p.G10G	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	10					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGATACGGGCCCCGTGCACG	0.617								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(28-30)ggC>ggA	Direct reversal of damage	chromosome 19 open reading frame 40							76.0	74.0	75.0					19																	33464132		2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464132C>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.30C>A	19.37:g.33464132C>A						C19orf40_ENST00000589646.1_Intron|C19orf40_ENST00000590281.1_Silent_p.G10G|C19orf40_ENST00000590179.1_Intron	p.G10G	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			2	140	+	Esophageal squamous(110;0.137)		10					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.30C>A	CCDS12426.1																																																																																				0.617	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		20	29	1	0	2.37509e-13	1	2.57931e-13	20	29				
ZNF454	285676	broad.mit.edu	37	5	178392866	178392866	+	Silent	SNP	G	G	A	rs13187000	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178392866G>A	ENST00000320129.3	+	5	1764	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	ZNF454_ENST00000519564.1_Silent_p.Q487Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTCAACATCAGAGGATTCACA	0.393																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(1459-1461)caG>caA		zinc finger protein 454		G	,,	1,4405	2.1+/-5.4	0,1,2202	68.0	72.0	71.0		1461,1461,1461	2.7	1.0	5	dbSNP_121	71	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF454	NM_001178089.1,NM_001178090.1,NM_182594.2	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	487/523,487/523,487/523	178392866	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392866G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1461G>A	5.37:g.178392866G>A						ZNF454_ENST00000519564.1_Silent_p.Q487Q	p.Q487Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1764	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	487					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.1461G>A	CCDS4441.1																																																																																				0.393	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		31	38	0	0	0	1	0	31	38				
BHLHB9	80823	broad.mit.edu	37	X	102004720	102004720	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:102004720G>A	ENST00000372735.1	+	4	1382	c.797G>A	c.(796-798)cGc>cAc	p.R266H	BHLHB9_ENST00000457056.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R266H			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	266					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCTTGCCGCCCTTCTAGG	0.502																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(796-798)cGc>cAc		basic helix-loop-helix domain containing, class B, 9							63.0	58.0	59.0					X																	102004720		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004720G>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.797G>A	X.37:g.102004720G>A	ENSP00000361820:p.Arg266His					BHLHB9_ENST00000457056.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R266H|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R266H|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R266H	p.R266H			Q6PI77	BHLH9_HUMAN			4	1382	+			266					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.797G>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960820	0.02249	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	0.418	-0.836	0.10770	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44559	-0.9320	7	.	.	.	.	.	.	.	.	266	Q6PI77	BHLH9_HUMAN	H	266	ENSP00000403226:R266H;ENSP00000354675:R266H;ENSP00000405893:R266H;ENSP00000391722:R266H;ENSP00000361820:R266H	.	R	+	2	0	BHLHB9	101891376	0.018000	0.18449	0.001000	0.08648	0.039000	0.13416	-0.598000	0.05706	-0.735000	0.04837	-0.750000	0.03501	CGC		0.502	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		7	53	0	0	0	1	0	7	53				
KAT2B	8850	broad.mit.edu	37	3	20167421	20167421	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20167421G>A	ENST00000263754.4	+	10	1893	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	480					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCACACTCGGCCAGGGATGA	0.478																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(1438-1440)Gcc>Acc		K(lysine) acetyltransferase 2B							87.0	89.0	88.0					3																	20167421		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20167421G>A	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1438G>A	3.37:g.20167421G>A	ENSP00000263754:p.Ala480Thr						p.A480T	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			10	1893	+			480					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.1438G>A	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008322	0.75046	.	.	ENSG00000114166	ENST00000263754	T	0.22743	1.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.49256	1.55	0.80722	D	1	P	0.50066	0.931	B	0.44163	0.443	T	0.00958	-1.1500	10	0.30854	T	0.27	-15.9018	19.6847	0.95976	0.0:0.0:1.0:0.0	.	480	Q92831	KAT2B_HUMAN	T	480	ENSP00000263754:A480T	ENSP00000263754:A480T	A	+	1	0	KAT2B	20142425	1.000000	0.71417	0.838000	0.33150	0.387000	0.30353	9.813000	0.99286	2.726000	0.93360	0.655000	0.94253	GCC		0.478	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		20	35	0	0	0	1	0	20	35				
PRL	5617	broad.mit.edu	37	6	22290546	22290546	+	Nonsense_Mutation	SNP	G	G	A	rs6238		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:22290546G>A	ENST00000306482.1	-	4	867	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.R117*(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TTCCAGGATCGCAATATGCTG	0.428																																						ENST00000306482.1																			1	Substitution - Nonsense(1)	p.R117*(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(349-351)Cga>Tga		prolactin							115.0	108.0	110.0					6																	22290546		2203	4300	6503	SO:0001587	stop_gained	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290546G>A	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.349C>T	6.37:g.22290546G>A	ENSP00000302150:p.Arg117*					RP3-404K8.2_ENST00000561912.1_RNA	p.R117*	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	867	-	Ovarian(93;0.163)		117					Q15199|Q92996	Nonsense_Mutation	SNP	ENST00000306482.1	37	c.349C>T	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	39	7.431791	0.98279	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	.	.	.	5.87	4.09	0.47781	.	0.376195	0.34088	N	0.004279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.517	11.4725	0.50278	0.0648:0.0:0.8089:0.1263	rs6238;rs6238	.	.	.	X	117;86	.	ENSP00000302150:R117X	R	-	1	2	PRL	22398525	1.000000	0.71417	0.907000	0.35723	0.291000	0.27294	2.288000	0.43514	0.923000	0.37045	0.655000	0.94253	CGA		0.428	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		27	39	0	0	0	1	0	27	39				
PCDH15	65217	broad.mit.edu	37	10	55892669	55892669	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55892669G>A	ENST00000320301.6	-	15	2277	c.1883C>T	c.(1882-1884)gCc>gTc	p.A628V	PCDH15_ENST00000373957.3_Missense_Mutation_p.A606V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A239V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A628V|PCDH15_ENST00000373955.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A628V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A633V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A606V|PCDH15_ENST00000373965.2_Missense_Mutation_p.A635V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A635V|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A591V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACCCTCATGGCTTCACTAAT	0.413										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1903-1905)gCc>gTc		protocadherin-related 15							118.0	97.0	104.0					10																	55892669		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55892669G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1883C>T	10.37:g.55892669G>A	ENSP00000322604:p.Ala628Val	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.A606V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A628V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A239V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A628V|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A628V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A633V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A606V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A635V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A628V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A591V	p.A635V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			16	2298	-		Melanoma(3;0.117)|Lung SC(717;0.238)	628			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1904C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440175	0.96168	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;1.13;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.74359	0.3706	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.996;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0;0.997;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.994;0.99;0.977;0.997;0.999;0.997;0.994;0.991;0.994;0.997;0.994;0.976;0.992	T	0.74624	-0.3603	9	0.66056	D	0.02	.	18.9066	0.92464	0.0:0.0:1.0:0.0	.	606;628;628;633;591;628;628;635;635;628;633;628;606;628	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	635;633;628;628;239;635;628;591;628;606;606;628;628;633;628	ENSP00000363076:A635V;ENSP00000410304:A633V;ENSP00000378826:A628V;ENSP00000386693:A239V;ENSP00000378832:A635V;ENSP00000378833:A628V;ENSP00000378820:A591V;ENSP00000354950:A628V;ENSP00000378821:A606V;ENSP00000363068:A606V;ENSP00000322604:A628V;ENSP00000378818:A628V;ENSP00000363066:A628V	ENSP00000322604:A628V	A	-	2	0	PCDH15	55562675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.490000	0.81461	2.838000	0.97847	0.591000	0.81541	GCC		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	16	0	0	0	1	0	9	16				
BZRAP1	9256	broad.mit.edu	37	17	56400901	56400901	+	Silent	SNP	C	C	T	rs377369471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56400901C>T	ENST00000343736.4	-	6	1111	c.948G>A	c.(946-948)acG>acA	p.T316T	BZRAP1_ENST00000268893.6_Silent_p.T256T|BZRAP1_ENST00000355701.3_Silent_p.T316T|BZRAP1-AS1_ENST00000579527.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	316						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCCTGGGGCGTGGCCTGGA	0.657																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(946-948)acG>acA		benzodiazapine receptor (peripheral) associated protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	97.0	85.0	89.0		948,768	-9.3	0.0	17		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BZRAP1	NM_004758.2,NM_024418.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	316/1858,256/1798	56400901	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56400901C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.948G>A	17.37:g.56400901C>T						BZRAP1_ENST00000268893.6_Silent_p.T256T|BZRAP1_ENST00000343736.4_Silent_p.T316T	p.T316T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			6	1818	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		316					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.948G>A	CCDS11605.1																																																																																				0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		30	42	0	0	0	1	0	30	42				
IL17RD	54756	broad.mit.edu	37	3	57131981	57131981	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57131981A>G	ENST00000296318.7	-	12	1838	c.1750T>C	c.(1750-1752)Tcg>Ccg	p.S584P	IL17RD_ENST00000463523.1_Missense_Mutation_p.S440P|IL17RD_ENST00000320057.5_Missense_Mutation_p.S440P|IL17RD_ENST00000427856.2_Missense_Mutation_p.S560P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	584					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACCAAGCCCGAATCAAATTTC	0.537																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1750-1752)Tcg>Ccg		interleukin 17 receptor D							41.0	44.0	43.0					3																	57131981		2203	4300	6503	SO:0001583	missense	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131981A>G	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1750T>C	3.37:g.57131981A>G	ENSP00000296318:p.Ser584Pro					IL17RD_ENST00000320057.5_Missense_Mutation_p.S440P|IL17RD_ENST00000463523.1_Missense_Mutation_p.S440P|IL17RD_ENST00000427856.2_Missense_Mutation_p.S560P	p.S584P	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1838	-			584					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.1750T>C	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770891	0.49680	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.20463	2.07;2.07;2.09;2.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	L	0.58101	1.795	0.54753	D	0.999987	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.33163	-0.9879	10	0.62326	D	0.03	-16.6535	15.8697	0.79101	1.0:0.0:0.0:0.0	.	440;584;560	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	P	584;440;560;440	ENSP00000296318:S584P;ENSP00000322250:S440P;ENSP00000399209:S560P;ENSP00000417516:S440P	ENSP00000296318:S584P	S	-	1	0	IL17RD	57107021	1.000000	0.71417	0.996000	0.52242	0.097000	0.18754	6.354000	0.73036	2.152000	0.67230	0.533000	0.62120	TCG		0.537	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		10	19	0	0	0	1	0	10	19				
ZFP90	146198	broad.mit.edu	37	16	68597347	68597347	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68597347C>A	ENST00000570495.1	+	5	949	c.657C>A	c.(655-657)gcC>gcA	p.A219A	ZFP90_ENST00000398253.2_Silent_p.A219A|ZFP90_ENST00000563169.2_Silent_p.A219A			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	219					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTAGAAAAGCCTTTATTCATA	0.348																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(655-657)gcC>gcA		ZFP90 zinc finger protein							61.0	62.0	61.0					16																	68597347		1874	4097	5971	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597347C>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.657C>A	16.37:g.68597347C>A						RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.A219A|ZFP90_ENST00000398253.2_Silent_p.A219A	p.A219A			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	949	+		Ovarian(137;0.192)	219					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.657C>A	CCDS42183.1																																																																																				0.348	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		19	71	1	0	5.03518e-11	1	5.40566e-11	19	71				
GOSR1	9527	broad.mit.edu	37	17	28849325	28849325	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:28849325C>T	ENST00000225724.5	+	9	754	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GOSR1_ENST00000451249.2_Missense_Mutation_p.R226W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R163W|GOSR1_ENST00000581721.1_Missense_Mutation_p.R214W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	228					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GAGGAAGCGGCGGGACTCGCT	0.493																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(682-684)Cgg>Tgg		golgi SNAP receptor complex member 1							250.0	266.0	260.0					17																	28849325		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28849325C>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.682C>T	17.37:g.28849325C>T	ENSP00000225724:p.Arg228Trp					GOSR1_ENST00000581721.1_Missense_Mutation_p.R214W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R226W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R163W	p.R228W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			9	754	+			228					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.682C>T	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362333	0.82353	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87518	0.2444	9	0.87932	D	0	-5.6712	14.423	0.67196	0.1472:0.8528:0.0:0.0	.	228;226	O95249;E9PCW1	GOSR1_HUMAN;.	W	228;226;163	.	ENSP00000225724:R228W	R	+	1	2	GOSR1	25873451	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.560000	0.45896	2.873000	0.98535	0.563000	0.77884	CGG		0.493	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			96	143	0	0	0	1	0	96	143				
P2RY11	5032	broad.mit.edu	37	19	10225092	10225092	+	Missense_Mutation	SNP	G	G	A	rs139449846		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10225092G>A	ENST00000321826.4	+	2	987	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	PPAN_ENST00000556468.1_Missense_Mutation_p.R688Q|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R688Q|PPAN-P2RY11_ENST00000428358.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	268					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACATCATGCGGGTGCTCAAC	0.662																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(2062-2064)cGg>cAg		peter pan homolog (Drosophila)		G	,GLN/ARG,GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		,803,2063	-9.2	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense,missense	P2RY11,PPAN-P2RY11	NM_001198690.1,NM_002566.4,NM_001040664.2	,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,268/375,688/795	10225092	1,13005	2203	4300	6503	SO:0001583	missense	56342							g.chr19:10225092G>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.803G>A	19.37:g.10225092G>A	ENSP00000323872:p.Arg268Gln					P2RY11_ENST00000321826.4_Missense_Mutation_p.R268Q|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R688Q|PPAN-P2RY11_ENST00000428358.1_3'UTR	p.R688Q					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2090	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2063G>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	g	9.919	1.211749	0.22289	0.0	1.16E-4	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.37915	1.17;1.17;1.17	4.59	-9.19	0.00685	GPCR, rhodopsin-like superfamily (1);	2.006480	0.03888	N	0.278273	T	0.13500	0.0327	N	0.05078	-0.115	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.14727	-1.0462	10	0.30078	T	0.28	-0.273	3.0433	0.06145	0.471:0.0762:0.2224:0.2304	.	268	Q96G91	P2Y11_HUMAN	Q	688;688;268	ENSP00000377385:R688Q;ENSP00000450710:R688Q;ENSP00000323872:R268Q	ENSP00000323872:R268Q	R	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10086092	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.655000	0.00854	-2.756000	0.00372	-1.121000	0.02013	CGG		0.662	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		12	65	0	0	0	1	0	12	65				
SLC25A31	83447	broad.mit.edu	37	4	128688340	128688340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128688340C>T	ENST00000281154.4	+	4	766	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CATTGTGTACCGAGCCTCTTA	0.358																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(598-600)Cga>Tga		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							184.0	180.0	182.0					4																	128688340		2203	4300	6503	SO:0001587	stop_gained	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688340C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.598C>T	4.37:g.128688340C>T	ENSP00000281154:p.Arg200*						p.R200*	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	766	+			200						Nonsense_Mutation	SNP	ENST00000281154.4	37	c.598C>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535700	0.96460	.	.	ENSG00000151475	ENST00000281154	.	.	.	5.18	4.34	0.51931	.	0.000000	0.43416	D	0.000571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1226	7.7708	0.29008	0.1613:0.7552:0.0:0.0834	.	.	.	.	X	200	.	ENSP00000281154:R200X	R	+	1	2	SLC25A31	128907790	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.770000	0.26618	1.411000	0.46957	0.591000	0.81541	CGA		0.358	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		7	141	0	0	0	1	0	7	141				
PLCL2	23228	broad.mit.edu	37	3	17052134	17052134	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:17052134G>A	ENST00000418129.2	+	2	1383	c.918G>A	c.(916-918)ctG>ctA	p.L306L	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L306L|PLCL2_ENST00000396755.2_Silent_p.L306L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	432					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGCAACCTCTGTCTCATTACT	0.398																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(916-918)ctG>ctA		phospholipase C-like 2							116.0	127.0	123.0					3																	17052134		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052134G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.918G>A	3.37:g.17052134G>A						PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L306L|PLCL2_ENST00000396755.2_Silent_p.L306L	p.L306L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1383	+			432					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.918G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032785	0.07543	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.81	2.97	0.34412	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51387	-0.8712	4	.	.	.	.	6.5678	0.22521	0.1657:0.1747:0.6596:0.0	.	.	.	.	Y	50	.	.	C	+	2	0	PLCL2	17027138	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.224000	0.32539	1.427000	0.47276	0.655000	0.94253	TGT		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			43	49	0	0	0	1	0	43	49				
FOXO1	2308	broad.mit.edu	37	13	41134687	41134687	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41134687C>T	ENST00000379561.5	-	2	1325	c.941G>A	c.(940-942)cGc>cAc	p.R314H	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	314	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGTTCGAGGGCGAAATGTACT	0.498																																						ENST00000379561.5																		PAX7/FOXO1(197)|PAX3/FOXO1(749)	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20						c.(940-942)cGc>cAc		forkhead box O1							118.0	99.0	105.0					13																	41134687		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134687C>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.941G>A	13.37:g.41134687C>T	ENSP00000368880:p.Arg314His						p.R314H	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1325	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	314					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.941G>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675631	0.88445	.	.	ENSG00000150907	ENST00000379561	D	0.95622	-3.76	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97754	1.0216	10	0.62326	D	0.03	-21.7118	18.5619	0.91102	0.0:1.0:0.0:0.0	.	288;314	F8TAD1;Q12778	.;FOXO1_HUMAN	H	314	ENSP00000368880:R314H	ENSP00000368880:R314H	R	-	2	0	FOXO1	40032687	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.487000	0.81328	2.647000	0.89833	0.467000	0.42956	CGC		0.498	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		29	31	0	0	0	1	0	29	31				
HECW1	23072	broad.mit.edu	37	7	43484781	43484781	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43484781C>T	ENST00000395891.2	+	11	2615	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	HECW1_ENST00000453890.1_Silent_p.C670C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	670	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCACAGTTGCGAGGGCTGTG	0.682																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2008-2010)tgC>tgT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							24.0	29.0	27.0					7																	43484781		2143	4226	6369	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484781C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2010C>T	7.37:g.43484781C>T						HECW1_ENST00000453890.1_Silent_p.C670C	p.C670C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2615	+			670			Cys-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2010C>T	CCDS5469.2																																																																																				0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	10	0	0	0	1	0	7	10				
PROKR2	128674	broad.mit.edu	37	20	5283038	5283038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5283038C>T	ENST00000217270.3	-	2	802	c.803G>A	c.(802-804)cGc>cAc	p.R268H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R268H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	268			R -> C (in HH3; uncertain pathological significance; phenotype consistent with Kallmann syndrome; some patients also carry pathogenic mutations in SEMA3A; dbSNP:rs78861628). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:22927827}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCTGCGGCAGCGCAGCCGCTT	0.597										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(802-804)cGc>cAc		prokineticin receptor 2							59.0	51.0	54.0					20																	5283038		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283038C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.803G>A	20.37:g.5283038C>T	ENSP00000217270:p.Arg268His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R268H	p.R268H			Q8NFJ6	PKR2_HUMAN			3	1049	-			268		R -> C.			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.803G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867046	0.72065	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.41400	1.0;1.0	5.05	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.048823	0.85682	D	0.000000	T	0.61173	0.2326	M	0.77616	2.38	0.54753	D	0.999987	D	0.67145	0.996	P	0.61397	0.888	T	0.66862	-0.5816	10	0.87932	D	0	.	13.1366	0.59413	0.0:0.8379:0.1621:0.0	.	268	Q8NFJ6	PKR2_HUMAN	H	268	ENSP00000440790:R268H;ENSP00000217270:R268H	ENSP00000217270:R268H	R	-	2	0	PROKR2	5231038	0.984000	0.35163	1.000000	0.80357	0.994000	0.84299	2.723000	0.47277	1.103000	0.41568	0.655000	0.94253	CGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		8	27	0	0	0	1	0	8	27				
ZNF835	90485	broad.mit.edu	37	19	57175979	57175979	+	Silent	SNP	G	G	A	rs376712708		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57175979G>A	ENST00000537055.2	-	2	819	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCAGTCGGCGCAGCGGTGCG	0.726																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(586-588)tgC>tgT		zinc finger protein 835							12.0	13.0	13.0					19																	57175979		2185	4241	6426	SO:0001819	synonymous_variant	90485							g.chr19:57175979G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.588C>T	19.37:g.57175979G>A							p.C196C	NM_001005850.2	NP_001005850.2					2	819	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.588C>T	CCDS56105.1																																																																																				0.726	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		11	8	0	0	0	1	0	11	8				
ANKRD17	26057	broad.mit.edu	37	4	74019646	74019646	+	Silent	SNP	C	C	T	rs377567587		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:74019646C>T	ENST00000358602.4	-	6	1301	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	ANKRD17_ENST00000509867.2_Silent_p.T282T|ANKRD17_ENST00000330838.6_Silent_p.T395T|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	395					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTAGAATGCGTATTAATGC	0.363																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1183-1185)acG>acA		ankyrin repeat domain 17		C	,	0,4406		0,0,2203	112.0	107.0	109.0		1185,1185	0.7	1.0	4		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ANKRD17	NM_032217.3,NM_198889.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	395/2604,395/2353	74019646	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74019646C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1185G>A	4.37:g.74019646C>T						ANKRD17_ENST00000330838.6_Silent_p.T395T|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.T282T	p.T395T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	1301	-	Breast(15;0.000295)		395					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.1185G>A	CCDS34004.1																																																																																				0.363	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		44	50	0	0	0	1	0	44	50				
GPR63	81491	broad.mit.edu	37	6	97246676	97246676	+	Missense_Mutation	SNP	C	C	T	rs560918889		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97246676C>T	ENST00000229955.3	-	2	1277	c.932G>A	c.(931-933)cGt>cAt	p.R311H	GPR63_ENST00000417980.1_Missense_Mutation_p.R311H|RP3-417O22.3_ENST00000442184.1_RNA	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGTGAAGGCACGTGTTTTAAA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21637	0.0		0.0	False		,,,				2504	0.001					ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(931-933)cGt>cAt		G protein-coupled receptor 63							114.0	95.0	101.0					6																	97246676		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246676C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.932G>A	6.37:g.97246676C>T	ENSP00000229955:p.Arg311His					GPR63_ENST00000417980.1_Missense_Mutation_p.R311H	p.R311H	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1277	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	311					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.932G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354576	0.82243	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.43688	0.94;0.94;0.94	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69935	-0.5010	10	0.87932	D	0	-13.6236	19.0987	0.93265	0.0:1.0:0.0:0.0	.	311	Q9BZJ6	GPR63_HUMAN	H	335;311;311;311	ENSP00000393170:R311H;ENSP00000229955:R311H;ENSP00000358273:R311H	ENSP00000229955:R311H	R	-	2	0	GPR63	97353397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.595000	0.87683	0.650000	0.86243	CGT		0.478	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			14	24	0	0	0	1	0	14	24				
HMCN1	83872	broad.mit.edu	37	1	186143767	186143767	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186143767C>A	ENST00000271588.4	+	103	16165	c.15936C>A	c.(15934-15936)ccC>ccA	p.P5312P	GS1-174L6.4_ENST00000428391.1_RNA|HMCN1_ENST00000367492.2_Silent_p.P5312P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5312					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAAGACCCTGCATGGGTA	0.443																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15934-15936)ccC>ccA		hemicentin 1							145.0	120.0	129.0					1																	186143767		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186143767C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15936C>A	1.37:g.186143767C>A						HMCN1_ENST00000367492.2_Silent_p.P5312P	p.P5312P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			103	16165	+			5312					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15936C>A	CCDS30956.1																																																																																				0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	18	1	0	2.37509e-13	1	2.57931e-13	18	18				
PCDHA4	56144	broad.mit.edu	37	5	140188302	140188302	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140188302G>A	ENST00000530339.1	+	1	1530	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	PCDHA4_ENST00000356878.4_Silent_p.V510V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V510V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTTTCGGTGCATGCGGAGA	0.677																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1528-1530)gtG>gtA									71.0	72.0	72.0					5																	140188302		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188302G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1530G>A	5.37:g.140188302G>A						PCDHA4_ENST00000512229.2_Silent_p.V510V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V510V|PCDHA2_ENST00000526136.1_Intron	p.V510V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1530	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1530G>A	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		21	20	0	0	0	1	0	21	20				
ZFAT	57623	broad.mit.edu	37	8	135521921	135521921	+	Missense_Mutation	SNP	C	C	T	rs377173690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135521921C>T	ENST00000377838.3	-	15	3607	c.3433G>A	c.(3433-3435)Gcc>Acc	p.A1145T	ZFAT_ENST00000520727.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1083T|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1145					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGGGCAGTGGCGTCATGGGTC	0.577																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3397-3399)Gcc>Acc		zinc finger and AT hook domain containing		C	THR/ALA,THR/ALA,THR/ALA,,THR/ALA	0,4160		0,0,2080	112.0	117.0	115.0		3397,3397,3247,,3433	4.0	0.3	8		115	1,8433		0,1,4216	no	missense,missense,missense,intron,missense	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	58,58,58,,58	0,1,6296	TT,TC,CC		0.0119,0.0,0.0079	benign,benign,benign,,benign	1133/1232,1133/1232,1083/1182,,1145/1244	135521921	1,12593	2080	4217	6297	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135521921C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3433G>A	8.37:g.135521921C>T	ENSP00000367069:p.Ala1145Thr					ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1133T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1083T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1145T	p.A1133T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		16	3696	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1145					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3397G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963979	0.53507	0.0	1.19E-4	ENSG00000066827	ENST00000520727;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	T;T;T;T	0.12879	2.64;2.67;2.64;2.71	5.81	4.04	0.47022	.	0.155825	0.44097	N	0.000485	T	0.09555	0.0235	L	0.29908	0.895	0.46149	D	0.998892	B;B;B	0.34255	0.349;0.445;0.087	B;B;B	0.24155	0.019;0.051;0.013	T	0.11060	-1.0603	10	0.62326	D	0.03	-13.5019	11.4873	0.50361	0.0:0.8562:0.0:0.1438	.	264;1083;1145	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	T	1133;1145;1133;65;1032;1083	ENSP00000427831:A1133T;ENSP00000367069:A1145T;ENSP00000428483:A1133T;ENSP00000429091:A1083T	ENSP00000326997:A1032T	A	-	1	0	ZFAT	135591103	0.991000	0.36638	0.274000	0.24659	0.636000	0.38137	3.048000	0.49862	0.820000	0.34516	0.557000	0.71058	GCC		0.577	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	31	0	0	0	1	0	16	31				
RAP1GDS1	5910	broad.mit.edu	37	4	99342450	99342450	+	Missense_Mutation	SNP	C	C	T	rs376393207		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:99342450C>T	ENST00000408927.3	+	12	1458	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R400C|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R450C|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R358C|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R449C|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R401C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	449					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTTAGTGGAGCGTTTGGTGGA	0.423			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1345-1347)Cgt>Tgt		RAP1, GTP-GDP dissociation stimulator 1							126.0	123.0	124.0					4																	99342450		1967	4155	6122	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99342450C>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1345C>T	4.37:g.99342450C>T	ENSP00000386153:p.Arg449Cys					RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R400C|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R358C|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R401C|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R450C|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R449C	p.R449C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	12	1458	+			449					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1345C>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188641	0.78789	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.056154	0.64402	D	0.000002	T	0.34890	0.0913	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.994;1.0;1.0;1.0	D;P;P;D;D;D	0.71184	0.939;0.742;0.556;0.965;0.911;0.972	T	0.00715	-1.1597	10	0.38643	T	0.18	-9.0075	15.63	0.76899	0.1379:0.8621:0.0:0.0	.	358;400;401;449;450;449	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	C	401;358;449;449;400;450	ENSP00000369503:R401C;ENSP00000264572:R358C;ENSP00000386153:R449C;ENSP00000407157:R449C;ENSP00000386223:R400C;ENSP00000340454:R450C	ENSP00000264572:R358C	R	+	1	0	RAP1GDS1	99561473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.125000	0.42016	2.722000	0.93159	0.655000	0.94253	CGT		0.423	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		17	30	0	0	0	1	0	17	30				
AOC4P	90586	broad.mit.edu	37	17	41019975	41019975	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41019975G>A	ENST00000585538.1	+	0	814					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		ACCTAGTTTGGCCTCTACTAC	0.607																																						ENST00000585538.1																			0																																																			0							g.chr17:41019975G>A			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019975G>A								NR_002773.1						0	814	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.607	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			18	28	0	0	0	1	0	18	28				
PDCD11	22984	broad.mit.edu	37	10	105185201	105185201	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105185201G>A	ENST00000369797.3	+	20	3318	c.3224G>A	c.(3223-3225)gGc>gAc	p.G1075D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1075	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCAGAGGGCACCTCTCCT	0.517																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3223-3225)gGc>gAc		programmed cell death 11							115.0	99.0	104.0					10																	105185201		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185201G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3224G>A	10.37:g.105185201G>A	ENSP00000358812:p.Gly1075Asp						p.G1075D	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3318	+		Colorectal(252;0.0747)|Breast(234;0.128)	1075			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3224G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015268	0.75161	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.42900	0.96	5.91	4.98	0.66077	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.095473	0.64402	D	0.000001	T	0.52837	0.1759	L	0.41961	1.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.37502	-0.9703	10	0.29301	T	0.29	-22.5258	11.6324	0.51183	0.066:0.0:0.8096:0.1244	.	1075	Q14690	RRP5_HUMAN	D	1075	ENSP00000358812:G1075D	ENSP00000358812:G1075D	G	+	2	0	PDCD11	105175191	1.000000	0.71417	0.928000	0.36995	0.713000	0.41058	4.863000	0.62983	2.804000	0.96469	0.462000	0.41574	GGC		0.517	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			28	30	0	0	0	1	0	28	30				
SCP2	6342	broad.mit.edu	37	1	53516312	53516312	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53516312G>A	ENST00000528311.1	+	15	1633	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SCP2_ENST00000371509.4_Missense_Mutation_p.G483D|SCP2_ENST00000371514.3_Missense_Mutation_p.G527D|SCP2_ENST00000407246.2_Missense_Mutation_p.G503D|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000435345.2_Missense_Mutation_p.G123D|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000430330.2_Missense_Mutation_p.G120D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AAAATCACTGGCAACATGGGT	0.378																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(1579-1581)gGc>gAc		sterol carrier protein 2							122.0	123.0	123.0					1																	53516312		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53516312G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1337G>A	1.37:g.53516312G>A	ENSP00000434132:p.Gly446Asp					SCP2_ENST00000371509.4_Missense_Mutation_p.G483D|SCP2_ENST00000528311.1_Missense_Mutation_p.G446D|SCP2_ENST00000407246.2_Missense_Mutation_p.G503D|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000435345.2_Missense_Mutation_p.G123D|SCP2_ENST00000430330.2_Missense_Mutation_p.G120D	p.G527D	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			16	1748	+			527			SCP2.		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1580G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873009	0.91664	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.76	5.76	0.90799	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.93854	3.465	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92909	0.6346	10	0.87932	D	0	-11.1348	19.1135	0.93328	0.0:0.0:1.0:0.0	.	503;483;120;527	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	D	527;446;483;503;120;123	ENSP00000360569:G527D;ENSP00000434132:G446D;ENSP00000360564:G483D;ENSP00000384569:G503D;ENSP00000406636:G120D;ENSP00000396413:G123D	ENSP00000360564:G483D	G	+	2	0	SCP2	53288900	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.802000	0.91910	2.880000	0.98712	0.650000	0.86243	GGC		0.378	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		16	62	0	0	0	1	0	16	62				
PPIP5K2	23262	broad.mit.edu	37	5	102522033	102522033	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102522033C>T	ENST00000358359.3	+	27	3691	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1061					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCACTGTGCGGGCCTGTTT	0.488																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3181-3183)gCg>gTg		diphosphoinositol pentakisphosphate kinase 2							108.0	100.0	102.0					5																	102522033		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102522033C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3182C>T	5.37:g.102522033C>T	ENSP00000351126:p.Ala1061Val					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V	p.A1061V			O43314	VIP2_HUMAN			27	3755	+			1061					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3182C>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450518	0.84101	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15256	2.44;2.44;2.44	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.22475	0.0542	L	0.55481	1.735	0.53688	D	0.999976	P;P	0.50528	0.936;0.894	B;B	0.42462	0.388;0.217	T	0.00972	-1.1495	10	0.29301	T	0.29	-6.8529	20.0795	0.97766	0.0:1.0:0.0:0.0	.	1061;1061	O43314-2;O43314	.;VIP2_HUMAN	V	1061;1061;1076;1061	ENSP00000313070:A1061V;ENSP00000351126:A1061V;ENSP00000416016:A1061V	ENSP00000313070:A1061V	A	+	2	0	PPIP5K2	102549932	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.070000	0.71220	2.747000	0.94245	0.650000	0.86243	GCG		0.488	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		15	13	0	0	0	1	0	15	13				
MARCH4	57574	broad.mit.edu	37	2	217124369	217124369	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:217124369C>T	ENST00000273067.4	-	4	2665	c.899G>A	c.(898-900)cGc>cAc	p.R300H	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTTAAAGATGCGGTACACCGA	0.542																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(898-900)cGc>cAc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							70.0	60.0	64.0					2																	217124369		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124369C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.899G>A	2.37:g.217124369C>T	ENSP00000273067:p.Arg300His					AC012513.6_ENST00000417481.1_RNA	p.R300H	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2665	-		Renal(323;0.0854)	300					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.899G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321584	0.95682	.	.	ENSG00000144583	ENST00000273067	T	0.60424	0.19	5.21	5.21	0.72293	.	0.104769	0.64402	D	0.000002	T	0.75162	0.3812	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76353	-0.2990	10	0.56958	D	0.05	-13.8759	18.1153	0.89552	0.0:1.0:0.0:0.0	.	300	Q9P2E8	MARH4_HUMAN	H	300	ENSP00000273067:R300H	ENSP00000273067:R300H	R	-	2	0	MARCH4	216832614	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.590000	0.87494	0.561000	0.74099	CGC		0.542	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		8	10	0	0	0	1	0	8	10				
SLC16A14	151473	broad.mit.edu	37	2	230910581	230910581	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230910581A>G	ENST00000295190.4	-	4	1719	c.1261T>C	c.(1261-1263)Tat>Cat	p.Y421H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGGGAGAAATAACCACTGGAA	0.502																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1261-1263)Tat>Cat		solute carrier family 16, member 14							82.0	76.0	78.0					2																	230910581		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230910581A>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1261T>C	2.37:g.230910581A>G	ENSP00000295190:p.Tyr421His						p.Y421H	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1719	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	421					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.1261T>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947688	0.53186	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.58060	0.37;0.36;0.36	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000046	T	0.64046	0.2563	L	0.49126	1.545	0.46458	D	0.999058	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.981	T	0.58951	-0.7545	10	0.17369	T	0.5	.	14.5447	0.68020	1.0:0.0:0.0:0.0	.	421;421	E7EMG7;Q7RTX9	.;MOT14_HUMAN	H	421	ENSP00000295190:Y421H;ENSP00000400352:Y421H;ENSP00000395775:Y421H	ENSP00000295190:Y421H	Y	-	1	0	SLC16A14	230618825	1.000000	0.71417	0.680000	0.29994	0.915000	0.54546	4.559000	0.60796	2.022000	0.59522	0.379000	0.24179	TAT		0.502	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		16	21	0	0	0	1	0	16	21				
KIF23	9493	broad.mit.edu	37	15	69728547	69728547	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69728547G>A	ENST00000260363.4	+	13	1460	c.1343G>A	c.(1342-1344)gGt>gAt	p.G448D	KIF23_ENST00000537891.1_Missense_Mutation_p.G265D|KIF23_ENST00000559279.1_Missense_Mutation_p.G448D|KIF23_ENST00000352331.4_Missense_Mutation_p.G448D|KIF23_ENST00000395392.2_Missense_Mutation_p.G448D|KIF23_ENST00000558585.1_Missense_Mutation_p.G265D	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	448					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCAATATGTGGTTTAACGCCT	0.413																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1342-1344)gGt>gAt		kinesin family member 23							154.0	148.0	150.0					15																	69728547		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69728547G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1343G>A	15.37:g.69728547G>A	ENSP00000260363:p.Gly448Asp					KIF23_ENST00000558585.1_Missense_Mutation_p.G265D|KIF23_ENST00000559279.1_Missense_Mutation_p.G448D|KIF23_ENST00000352331.4_Missense_Mutation_p.G448D|KIF23_ENST00000537891.1_Missense_Mutation_p.G265D|KIF23_ENST00000395392.2_Missense_Mutation_p.G448D	p.G448D	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			13	1460	+			448					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1343G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005417	0.74932	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77489	-0.93;-0.9;-0.92;-1.1	5.59	5.59	0.84812	.	0.047457	0.85682	D	0.000000	D	0.87462	0.6183	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.98;1.0;0.999	D	0.85659	0.1287	10	0.35671	T	0.21	.	18.572	0.91138	0.0:0.0:1.0:0.0	.	265;448;448	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	D	448;448;448;265	ENSP00000260363:G448D;ENSP00000304978:G448D;ENSP00000378790:G448D;ENSP00000442969:G265D	ENSP00000260363:G448D	G	+	2	0	KIF23	67515601	1.000000	0.71417	0.222000	0.23844	0.211000	0.24417	9.591000	0.98241	2.613000	0.88420	0.655000	0.94253	GGT		0.413	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				34	46	0	0	0	1	0	34	46				
FAM171A1	221061	broad.mit.edu	37	10	15256156	15256156	+	Silent	SNP	G	G	A	rs370616970		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15256156G>A	ENST00000378116.4	-	8	1437	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	477						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGAGGACTCGTAGCCTTCTC	0.483																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1429-1431)taC>taT		family with sequence similarity 171, member A1		G		2,4404	4.2+/-10.8	0,2,2201	103.0	91.0	95.0		1431	-5.1	0.8	10		95	0,8600		0,0,4300	no	coding-synonymous	FAM171A1	NM_001010924.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		477/891	15256156	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256156G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1431C>T	10.37:g.15256156G>A							p.Y477Y	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1437	-			477					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1431C>T	CCDS31154.1																																																																																				0.483	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	92	0	0	0	1	0	19	92				
SLC2A9	56606	broad.mit.edu	37	4	9836542	9836542	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:9836542G>A	ENST00000264784.3	-	11	1435	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	SLC2A9_ENST00000309065.3_Missense_Mutation_p.S432F|SLC2A9_ENST00000506583.1_Missense_Mutation_p.S432F	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	461					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGCAAAGTTGGAGAGCCAGTT	0.537																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1294-1296)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 9							66.0	59.0	61.0					4																	9836542		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9836542G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1382C>T	4.37:g.9836542G>A	ENSP00000264784:p.Ser461Phe					SLC2A9_ENST00000264784.3_Missense_Mutation_p.S461F|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S432F	p.S432F			Q9NRM0	GTR9_HUMAN			13	1512	-			461					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1295C>T	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575916	0.45902	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.42513	0.97;0.97;0.97	5.27	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120703	0.64402	D	0.000020	T	0.57829	0.2080	M	0.64567	1.98	0.39073	D	0.960767	D;D	0.89917	0.999;1.0	D;D	0.76575	0.979;0.988	T	0.62416	-0.6859	10	0.87932	D	0	.	8.8733	0.35330	0.0:0.164:0.6662:0.1698	.	432;461	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	F	432;461;432	ENSP00000422209:S432F;ENSP00000264784:S461F;ENSP00000311383:S432F	ENSP00000264784:S461F	S	-	2	0	SLC2A9	9445640	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.790000	0.62453	1.189000	0.43028	-0.291000	0.09656	TCC		0.537	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			11	11	0	0	0	1	0	11	11				
WDR16	146845	broad.mit.edu	37	17	9489197	9489197	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9489197C>T	ENST00000576499.1	+	2	192	c.178C>T	c.(178-180)Cta>Tta	p.L60L	WDR16_ENST00000299764.5_Silent_p.L70L|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000352665.5_Silent_p.L60L					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAGAACTTCCTACAGGGTCA	0.493																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(178-180)Cta>Tta		WD repeat domain 16							204.0	181.0	189.0					17																	9489197		2203	4300	6503	SO:0001819	synonymous_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9489197C>T	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000576499.1:c.178C>T	17.37:g.9489197C>T						WDR16_ENST00000299764.5_Silent_p.L70L|WDR16_ENST00000396219.3_Intron	p.L60L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			2	247	+			60						Silent	SNP	ENST00000576499.1	37	c.178C>T																																																																																					0.493	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		42	69	0	0	0	1	0	42	69				
STIM2	57620	broad.mit.edu	37	4	27019579	27019579	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:27019579C>T	ENST00000467011.1	+	11	2161	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	STIM2_ENST00000382009.3_Missense_Mutation_p.A674V|STIM2_ENST00000467087.1_Missense_Mutation_p.A579V|STIM2_ENST00000465503.1_Missense_Mutation_p.A587V|STIM2_ENST00000237364.5_Missense_Mutation_p.A666V|STIM2_ENST00000412829.2_Missense_Mutation_p.A666V	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	579					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAGGAAGAGGCCATTTACTTC	0.532																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2020-2022)gCc>gTc		stromal interaction molecule 2							245.0	241.0	243.0					4																	27019579		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019579C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1736C>T	4.37:g.27019579C>T	ENSP00000419383:p.Ala579Val					STIM2_ENST00000465503.1_Missense_Mutation_p.A587V|STIM2_ENST00000237364.5_Missense_Mutation_p.A666V|STIM2_ENST00000467011.1_Missense_Mutation_p.A579V|STIM2_ENST00000467087.1_Missense_Mutation_p.A579V|STIM2_ENST00000412829.2_Missense_Mutation_p.A666V	p.A674V	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			12	2288	+		Breast(46;0.0503)	579					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.2021C>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231406	0.79688	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.32	5.32	0.75619	.	0.117869	0.64402	D	0.000019	T	0.47801	0.1465	N	0.14661	0.345	0.42019	D	0.990976	D;D;D;D	0.71674	0.99;0.996;0.996;0.998	P;P;P;D	0.65684	0.815;0.867;0.867;0.937	T	0.50709	-0.8796	10	0.38643	T	0.18	.	18.9976	0.92819	0.0:1.0:0.0:0.0	.	579;666;674;666	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	V	579;674;666;579;666;587;287;181	ENSP00000419073:A579V;ENSP00000371439:A674V;ENSP00000237364:A666V;ENSP00000419383:A579V;ENSP00000404812:A666V;ENSP00000417569:A587V;ENSP00000420113:A287V;ENSP00000419536:A181V	ENSP00000237364:A666V	A	+	2	0	STIM2	26628677	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.504000	0.53347	2.483000	0.83821	0.460000	0.39030	GCC		0.532	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		97	147	0	0	0	1	0	97	147				
ABCA8	10351	broad.mit.edu	37	17	66873752	66873752	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66873752C>T	ENST00000269080.2	-	31	4124	c.3987G>A	c.(3985-3987)gcG>gcA	p.A1329A	ABCA8_ENST00000586539.1_Silent_p.A1369A|ABCA8_ENST00000430352.2_Silent_p.A1369A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGGCCACAGCGCGTTCTCCT	0.602																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3985-3987)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 8							141.0	120.0	127.0					17																	66873752		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873752C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3987G>A	17.37:g.66873752C>T						ABCA8_ENST00000430352.2_Silent_p.A1369A|ABCA8_ENST00000586539.1_Silent_p.A1369A	p.A1329A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4124	-	Breast(10;4.56e-13)		1329			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3987G>A	CCDS11680.1																																																																																				0.602	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		24	70	0	0	0	1	0	24	70				
SHANK2	22941	broad.mit.edu	37	11	70338440	70338440	+	Splice_Site	SNP	G	G	A	rs370602260		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70338440G>A	ENST00000423696.2	-	12	1338	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	SHANK2_ENST00000409161.1_Splice_Site_p.N217N|SHANK2_ENST00000409530.1_Splice_Site_p.N224N|SHANK2_ENST00000338508.4_Splice_Site_p.N814N|SHANK2_ENST00000357171.3_Splice_Site_p.N225N|SHANK2_ENST00000449116.2_Splice_Site_p.N215N|SHANK2_ENST00000449833.2_Splice_Site_p.N218N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	434					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCCACTCACGTTCATGTCTG	0.662																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.e29+1		SH3 and multiple ankyrin repeat domains 2		G	,	0,4398		0,0,2199	29.0	30.0	30.0		2293,675	-4.0	1.0	11		30	1,8583		0,1,4291	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SHANK2	NM_012309.3,NM_133266.3	,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,	813/1850,225/1262	70338440	1,12981	2199	4292	6491	SO:0001630	splice_region_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70338440G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1302+1C>T	11.37:g.70338440G>A						SHANK2_ENST00000449116.2_Splice_Site_p.N215_splice|SHANK2_ENST00000423696.2_Splice_Site_p.N434_splice|SHANK2_ENST00000449833.2_Splice_Site_p.N218_splice|SHANK2_ENST00000409530.1_Splice_Site_p.N224_splice|SHANK2_ENST00000357171.3_Splice_Site_p.N225_splice|SHANK2_ENST00000409161.1_Splice_Site_p.N217_splice	p.N814_splice			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		29	2441	-			434					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Splice_Site	SNP	ENST00000423696.2	37	c.2442_splice		.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112403	0.06881	0.0	1.16E-4	ENSG00000162105	ENST00000412252	.	.	.	4.53	-4.01	0.04045	.	.	.	.	.	T	0.61527	0.2354	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60480	-0.7255	4	.	.	.	.	12.6144	0.56567	0.801:0.0:0.199:0.0	.	.	.	.	F	224	.	.	L	-	1	0	SHANK2	70016088	0.997000	0.39634	0.957000	0.39632	0.281000	0.26958	0.529000	0.23019	-0.747000	0.04759	0.650000	0.86243	CTC		0.662	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	Silent	10	14	0	0	0	1	0	10	14				
KMT2E	55904	broad.mit.edu	37	7	104751018	104751018	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:104751018C>T	ENST00000311117.3	+	25	4484	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000334914.7_Silent_p.G368G|KMT2E_ENST00000257745.4_Silent_p.G1313G	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1313					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAGCTAAGGGCCCAGTCCCTT	0.413																																						ENST00000311117.3																			0											c.(3937-3939)ggC>ggT		lysine (K)-specific methyltransferase 2E							158.0	155.0	156.0					7																	104751018		2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104751018C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3939C>T	7.37:g.104751018C>T						KMT2E_ENST00000334914.7_Silent_p.G368G|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Silent_p.G1313G	p.G1313G	NM_182931.2	NP_891847.1					25	4484	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.3939C>T	CCDS34723.1																																																																																				0.413	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			34	46	0	0	0	1	0	34	46				
ANKLE2	23141	broad.mit.edu	37	12	133331649	133331649	+	Silent	SNP	G	G	A	rs375031409		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133331649G>A	ENST00000357997.5	-	2	341	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKLE2_ENST00000337516.5_Silent_p.I84I|ANKLE2_ENST00000539605.1_Silent_p.I22I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	84	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CGGCTTTGACGATTTCTTCTC	0.418																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(64-66)atC>atT		ankyrin repeat and LEM domain containing 2		G		1,3733		0,1,1866	94.0	89.0	91.0		252	-2.9	0.1	12		91	1,8221		0,1,4110	no	coding-synonymous	ANKLE2	NM_015114.1		0,2,5976	AA,AG,GG		0.0122,0.0268,0.0167		84/939	133331649	2,11954	1867	4111	5978	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331649G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.252C>T	12.37:g.133331649G>A						ANKLE2_ENST00000337516.5_Silent_p.I84I|ANKLE2_ENST00000357997.5_Silent_p.I84I	p.I22I			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	1	6750	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	84					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.66C>T	CCDS41869.1																																																																																				0.418	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			40	65	0	0	0	1	0	40	65				
ZEB2	9839	broad.mit.edu	37	2	145274891	145274891	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:145274891G>A	ENST00000558170.2	-	2	1211	c.27C>T	c.(25-27)ggC>ggT	p.G9G	ZEB2-AS1_ENST00000609819.1_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000428623.1_RNA|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000470879.1_Silent_p.G9G|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2_ENST00000465070.1_Silent_p.G9G|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000539609.3_Silent_p.G9G|ZEB2_ENST00000303660.4_Silent_p.G9G|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2_ENST00000462355.1_Silent_p.G9G|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2_ENST00000409487.3_Silent_p.G9G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	9					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCACCGGGGGCCATCCGCCA	0.597																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(25-27)ggC>ggT		zinc finger E-box binding homeobox 2							131.0	134.0	133.0					2																	145274891		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145274891G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.27C>T	2.37:g.145274891G>A						ZEB2_ENST00000409487.3_Silent_p.G9G|ZEB2_ENST00000303660.4_Silent_p.G9G|ZEB2_ENST00000462355.1_Silent_p.G9G|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000470879.1_Silent_p.G9G|ZEB2_ENST00000465070.1_Silent_p.G9G|ZEB2_ENST00000539609.3_Silent_p.G9G	p.G9G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	1211	-			9					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.27C>T	CCDS2186.1																																																																																				0.597	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		32	67	0	0	0	1	0	32	67				
TRRAP	8295	broad.mit.edu	37	7	98519495	98519495	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98519495C>T	ENST00000359863.4	+	21	2951	c.2742C>T	c.(2740-2742)taC>taT	p.Y914Y	TRRAP_ENST00000446306.3_Silent_p.Y913Y|TRRAP_ENST00000355540.3_Silent_p.Y914Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	914					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGCACTACGTTGTGACCG	0.557																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2740-2742)taC>taT		transformation/transcription domain-associated protein							171.0	139.0	150.0					7																	98519495		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98519495C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2742C>T	7.37:g.98519495C>T						TRRAP_ENST00000355540.3_Silent_p.Y914Y|TRRAP_ENST00000446306.3_Silent_p.Y913Y	p.Y914Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	2951	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		914					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2742C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921276	0.17982	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.94	-5.37	0.02681	.	.	.	.	.	T	0.63733	0.2536	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65606	-0.6127	4	.	.	.	.	15.654	0.77118	0.0:0.568:0.0:0.432	.	.	.	.	M	629	.	.	T	+	2	0	TRRAP	98357431	0.019000	0.18553	0.919000	0.36401	0.868000	0.49771	-0.870000	0.04228	-0.870000	0.04047	-0.455000	0.05494	ACG		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	48	0	0	0	1	0	26	48				
CYTH4	27128	broad.mit.edu	37	22	37692101	37692101	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37692101G>A	ENST00000248901.6	+	4	416	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	CYTH4_ENST00000402997.1_Missense_Mutation_p.A77T|CYTH4_ENST00000405206.3_Missense_Mutation_p.A77T|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	77	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CATGGACCCCGCCAAGGTAGG	0.657																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(229-231)Gcc>Acc		cytohesin 4							105.0	72.0	83.0					22																	37692101		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692101G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.229G>A	22.37:g.37692101G>A	ENSP00000248901:p.Ala77Thr					CYTH4_ENST00000402997.1_Missense_Mutation_p.A77T|CYTH4_ENST00000405206.3_Missense_Mutation_p.A77T|CYTH4_ENST00000439667.1_3'UTR	p.A77T	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			4	416	+			77			SEC7.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.229G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564080	0.45694	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.06	-3.9	0.04181	SEC7-like (4);	1.013500	0.07889	N	0.970851	T	0.37433	0.1003	N	0.25380	0.74	0.09310	N	1	B;B	0.24721	0.0;0.11	B;B	0.22753	0.006;0.041	T	0.39375	-0.9617	10	0.62326	D	0.03	.	11.1291	0.48336	0.6453:0.0:0.3547:0.0	.	77;90	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	T	77;77;90;77;77	ENSP00000405442:A77T;ENSP00000248901:A77T;ENSP00000385997:A77T;ENSP00000384280:A77T	ENSP00000248901:A77T	A	+	1	0	CYTH4	36022047	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	0.037000	0.13840	-0.500000	0.06614	-0.251000	0.11542	GCC		0.657	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			5	17	0	0	0	1	0	5	17				
PCDHA11	56138	broad.mit.edu	37	5	140250190	140250190	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250190G>A	ENST00000398640.2	+	1	1502	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGCGACCGCGCGCTGTCG	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1501-1503)cGc>cAc									63.0	69.0	67.0					5																	140250190		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250190G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1502G>A	5.37:g.140250190G>A	ENSP00000381636:p.Arg501His					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R501H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1502	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1502G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916304	0.33815	.	.	ENSG00000249158	ENST00000398640	T	0.60920	0.15	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47893	0.1470	L	0.39397	1.21	0.09310	N	1	P;P	0.39665	0.586;0.682	B;B	0.33960	0.14;0.173	T	0.48281	-0.9049	9	0.48119	T	0.1	.	13.6334	0.62208	0.0:0.0:0.8449:0.1551	.	501;501	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	501	ENSP00000381636:R501H	ENSP00000381636:R501H	R	+	2	0	PCDHA11	140230374	0.000000	0.05858	0.946000	0.38457	0.914000	0.54420	0.069000	0.14552	2.501000	0.84356	0.556000	0.70494	CGC		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		27	58	0	0	0	1	0	27	58				
FAT4	79633	broad.mit.edu	37	4	126336670	126336670	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126336670C>T	ENST00000394329.3	+	5	6565	c.6552C>T	c.(6550-6552)ggC>ggT	p.G2184G	FAT4_ENST00000335110.5_Silent_p.G482G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2184	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGATGAAGGCACAAATGGAC	0.418																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6550-6552)ggC>ggT		FAT atypical cadherin 4							170.0	153.0	158.0					4																	126336670		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336670C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6552C>T	4.37:g.126336670C>T						FAT4_ENST00000335110.5_Silent_p.G482G	p.G2184G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6565	+			2184			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6552C>T	CCDS3732.3																																																																																				0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	95	0	0	0	1	0	6	95				
LEFTY1	10637	broad.mit.edu	37	1	226075694	226075694	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:226075694G>A	ENST00000272134.5	-	2	368	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.T205I|LEFTY1_ENST00000492457.1_5'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	97					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					ACCAGCAGGTGTGTGCTGGCC	0.697																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(289-291)Cac>Tac		left-right determination factor 1							9.0	12.0	11.0					1																	226075694		1917	4122	6039	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075694G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.289C>T	1.37:g.226075694G>A	ENSP00000272134:p.His97Tyr					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.T205I|LEFTY1_ENST00000492457.1_5'UTR	p.H97Y	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			2	368	-	Breast(184;0.197)		97					B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.289C>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.112927|2.112927	0.37242|0.37242	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	T|T	0.65364|0.78364	-0.15|-1.17	3.3|3.3	2.37|2.37	0.29283|0.29283	Transforming growth factor-beta, N-terminal (1);|.	0.242362|.	0.43260|.	N|.	0.000586|.	T|T	0.71558|0.71558	0.3354|0.3354	L|L	0.57536|0.57536	1.79|1.79	0.35841|0.35841	D|D	0.826085|0.826085	B;B|B	0.09022|0.02656	0.002;0.002|0.0	B;B|B	0.10450|0.01281	0.005;0.005|0.0	T|T	0.71199|0.71199	-0.4663|-0.4663	10|9	0.12766|0.87932	T|D	0.61|0	.|.	8.6241|8.6241	0.33879|0.33879	0.1148:0.0:0.8852:0.0|0.1148:0.0:0.8852:0.0	.|.	97;97|205	B2R7U0;O75610|E7EUD8	.;LFTY1_HUMAN|.	Y|I	97|205	ENSP00000272134:H97Y|ENSP00000414068:T205I	ENSP00000272134:H97Y|ENSP00000414068:T205I	H|T	-|-	1|2	0|0	LEFTY1|RP4-559A3.7	224142317|224142317	1.000000|1.000000	0.71417|0.71417	0.351000|0.351000	0.25721|0.25721	0.387000|0.387000	0.30353|0.30353	5.072000|5.072000	0.64389|0.64389	0.509000|0.509000	0.28195|0.28195	0.313000|0.313000	0.20887|0.20887	CAC|ACA		0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		5	9	0	0	0	1	0	5	9				
ENPP7	339221	broad.mit.edu	37	17	77709121	77709121	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77709121C>T	ENST00000328313.5	+	3	900	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.R227W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGCTACCTCCGGGAGAGCAT	0.672																																						ENST00000328313.5																			1	Substitution - Missense(1)	p.R227W(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(679-681)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 7							62.0	58.0	60.0					17																	77709121		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709121C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.679C>T	17.37:g.77709121C>T	ENSP00000332656:p.Arg227Trp						p.R227W	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	900	+			227						Missense_Mutation	SNP	ENST00000328313.5	37	c.679C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708053	0.48412	.	.	ENSG00000182156	ENST00000328313	T	0.72942	-0.7	5.14	4.1	0.47936	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.130505	0.50627	D	0.000113	T	0.78349	0.4269	L	0.56199	1.76	0.40979	D	0.984767	D	0.89917	1.0	D	0.71414	0.973	T	0.80148	-0.1503	10	0.66056	D	0.02	-23.548	11.089	0.48104	0.3755:0.6245:0.0:0.0	.	227	Q6UWV6	ENPP7_HUMAN	W	227	ENSP00000332656:R227W	ENSP00000332656:R227W	R	+	1	2	ENPP7	75323716	0.976000	0.34144	0.495000	0.27527	0.232000	0.25224	2.586000	0.46119	2.380000	0.81148	0.655000	0.94253	CGG		0.672	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		13	20	0	0	0	1	0	13	20				
ZNF501	115560	broad.mit.edu	37	3	44776220	44776220	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44776220G>A	ENST00000396048.2	+	3	744	c.307G>A	c.(307-309)Gag>Aag	p.E103K	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCATACTGGAGAGAAACCCTA	0.368																																						ENST00000396048.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(307-309)Gag>Aag		zinc finger protein 501							71.0	83.0	79.0					3																	44776220		2202	4300	6502	SO:0001583	missense	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776220G>A	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.307G>A	3.37:g.44776220G>A	ENSP00000379363:p.Glu103Lys						p.E103K	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	744	+			103					B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	c.307G>A	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544166	0.86022	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.24350	1.86	3.07	3.07	0.35406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36276	0.0961	N	0.25957	0.775	0.40845	D	0.983709	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.32052	-0.9921	9	0.59425	D	0.04	.	13.3907	0.60823	0.0:0.0:1.0:0.0	.	103;103	Q96CX3-2;Q96CX3	.;ZN501_HUMAN	K	103	ENSP00000379363:E103K	ENSP00000330388:E103K	E	+	1	0	ZNF501	44751224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.454000	0.60068	1.717000	0.51406	0.563000	0.77884	GAG		0.368	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044		5	101	0	0	0	1	0	5	101				
OPRL1	4987	broad.mit.edu	37	20	62730088	62730088	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62730088G>A	ENST00000349451.3	+	6	1461	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R350H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R350H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	350					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GACCGCGTGCGCAGCATTGCC	0.642																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1048-1050)cGc>cAc		opiate receptor-like 1							65.0	58.0	60.0					20																	62730088		2201	4298	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62730088G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1049G>A	20.37:g.62730088G>A	ENSP00000336764:p.Arg350His					OPRL1_ENST00000336866.2_Missense_Mutation_p.R350H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R350H	p.R350H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1461	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		350					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1049G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789401	0.90367	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.65364	-0.15;-0.15;-0.15	5.12	5.12	0.69794	.	0.120219	0.56097	D	0.000035	T	0.75421	0.3847	M	0.69523	2.12	0.58432	D	0.999997	D;D	0.64830	0.994;0.989	P;P	0.56916	0.809;0.649	T	0.79045	-0.1964	10	0.72032	D	0.01	.	18.5716	0.91137	0.0:0.0:1.0:0.0	.	345;350	P41146-2;P41146	.;OPRX_HUMAN	H	350	ENSP00000336843:R350H;ENSP00000347848:R350H;ENSP00000336764:R350H	ENSP00000336843:R350H	R	+	2	0	OPRL1	62200532	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	6.489000	0.73641	2.381000	0.81170	0.550000	0.68814	CGC		0.642	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		10	23	0	0	0	1	0	10	23				
MKL1	57591	broad.mit.edu	37	22	40820291	40820291	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40820291C>T	ENST00000355630.3	-	8	986	c.396G>A	c.(394-396)gaG>gaA	p.E132E	MKL1_ENST00000407029.1_Silent_p.E132E|MKL1_ENST00000396617.3_Silent_p.E132E|MKL1_ENST00000402042.1_Silent_p.E132E	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	132	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AACCCTGGGACTCATGGCTGG	0.602			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(394-396)gaG>gaA		megakaryoblastic leukemia (translocation) 1							106.0	97.0	100.0					22																	40820291		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40820291C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.396G>A	22.37:g.40820291C>T						MKL1_ENST00000407029.1_Silent_p.E132E|MKL1_ENST00000355630.3_Silent_p.E132E|MKL1_ENST00000402042.1_Silent_p.E132E	p.E132E			Q969V6	MKL1_HUMAN			8	986	-			132			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.396G>A	CCDS14003.1																																																																																				0.602	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		23	77	0	0	0	1	0	23	77				
ZNF3	7551	broad.mit.edu	37	7	99668884	99668884	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99668884C>T	ENST00000424697.1	-	6	1529	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.S408N|ZNF3_ENST00000299667.4_Missense_Mutation_p.S408N	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	408					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AAGAGCCGAGCTGTACCTGAA	0.483																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(1222-1224)aGc>aAc		zinc finger protein 3							99.0	108.0	105.0					7																	99668884		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99668884C>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1223G>A	7.37:g.99668884C>T	ENSP00000415358:p.Ser408Asn					ZNF3_ENST00000424697.1_Missense_Mutation_p.S408N|ZNF3_ENST00000299667.4_Missense_Mutation_p.S408N|ZNF3_ENST00000413658.2_Intron	p.S408N			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	2190	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	408					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.1223G>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224238	0.09863	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.37235	1.21;1.21;1.21	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.35248	0.0925	L	0.27944	0.81	0.09310	N	1	P;B	0.51791	0.948;0.013	P;B	0.51324	0.666;0.008	T	0.14531	-1.0469	10	0.24483	T	0.36	-8.3609	15.0558	0.71912	0.0:1.0:0.0:0.0	.	391;408	B3KRP4;P17036	.;ZNF3_HUMAN	N	408	ENSP00000415358:S408N;ENSP00000306372:S408N;ENSP00000299667:S408N	ENSP00000299667:S408N	S	-	2	0	ZNF3	99506820	0.000000	0.05858	0.999000	0.59377	0.613000	0.37349	0.031000	0.13710	2.498000	0.84270	0.655000	0.94253	AGC		0.483	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		10	67	0	0	0	1	0	10	67				
APC2	10297	broad.mit.edu	37	19	1462106	1462106	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1462106G>A	ENST00000535453.1	+	13	3496	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	APC2_ENST00000238483.4_Missense_Mutation_p.A321T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A595T|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACTCGCTGGCCATCATCGA	0.657																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1783-1785)Gcc>Acc		adenomatosis polyposis coli 2							59.0	48.0	52.0					19																	1462106		2203	4298	6501	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1462106G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1783G>A	19.37:g.1462106G>A	ENSP00000442954:p.Ala595Thr					CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A595T|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.A321T	p.A595T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3496	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	595					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1783G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745325	0.89663	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65178	-0.14;0.77;-0.14	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65323	0.934;0.86	T	0.74896	-0.3508	10	0.72032	D	0.01	-28.0266	11.2528	0.49037	0.0:0.0:0.8169:0.1831	.	594;595	O95996-3;O95996	.;APC2_HUMAN	T	595;321;595	ENSP00000233607:A595T;ENSP00000238483:A321T;ENSP00000442954:A595T	ENSP00000233607:A595T	A	+	1	0	APC2	1413106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.093000	0.63338	0.561000	0.74099	GCC		0.657	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		22	24	0	0	0	1	0	22	24				
SLC6A2	6530	broad.mit.edu	37	16	55705966	55705966	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55705966G>A	ENST00000379906.2	+	3	778	c.523G>A	c.(523-525)Gac>Aac	p.D175N	SLC6A2_ENST00000566163.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D175N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D70N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D175N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	175					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCCCTGGACCGACTGTGGCCA	0.557																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(523-525)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						178.0	119.0	139.0					16																	55705966		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55705966G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.523G>A	16.37:g.55705966G>A	ENSP00000369237:p.Asp175Asn					SLC6A2_ENST00000568943.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D175N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D70N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D175N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D175N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D175N	p.D175N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	3	778	+			175					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.523G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850556	0.32699	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.82;-0.82	5.8	-0.102	0.13613	.	0.501714	0.24098	N	0.041565	T	0.46619	0.1402	N	0.05414	-0.055	0.20307	N	0.999911	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.28996	-1.0026	10	0.11485	T	0.65	.	8.6541	0.34053	0.7327:0.0:0.2673:0.0	.	175;70;175	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	N	175	ENSP00000394956:D175N;ENSP00000369237:D175N;ENSP00000219833:D175N	ENSP00000219833:D175N	D	+	1	0	SLC6A2	54263467	0.314000	0.24563	0.158000	0.22627	0.980000	0.70556	0.975000	0.29449	0.094000	0.17404	-0.145000	0.13849	GAC		0.557	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			16	22	0	0	0	1	0	16	22				
CPSF1	29894	broad.mit.edu	37	8	145626898	145626898	+	Missense_Mutation	SNP	C	C	T	rs200367486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145626898C>T	ENST00000349769.3	-	4	326	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	78					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATGGACATGACGTTGCCAAAG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14105	0.0		0.0	False		,,,				2504	0.0				NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(232-234)Gtc>Atc		cleavage and polyadenylation specific factor 1, 160kDa							83.0	74.0	77.0					8																	145626898		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626898C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.232G>A	8.37:g.145626898C>T	ENSP00000339353:p.Val78Ile						p.V78I	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		4	326	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		78					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.232G>A	CCDS34966.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.85	2.061439	0.36373	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.46819	0.86	4.31	4.31	0.51392	.	0.070528	0.56097	D	0.000038	T	0.29716	0.0742	N	0.16037	0.36	0.49798	D	0.999828	B;B	0.20261	0.042;0.043	B;B	0.18561	0.022;0.01	T	0.08764	-1.0706	10	0.15952	T	0.53	-47.5297	14.3365	0.66595	0.0:1.0:0.0:0.0	.	78;78	B4DEF4;Q10570	.;CPSF1_HUMAN	I	78	ENSP00000339353:V78I	ENSP00000339353:V78I	V	-	1	0	CPSF1	145597706	0.817000	0.29147	0.997000	0.53966	0.881000	0.50899	1.345000	0.33953	2.238000	0.73509	0.561000	0.74099	GTC		0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		6	11	0	0	0	1	0	6	11				
STAB1	23166	broad.mit.edu	37	3	52540756	52540756	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52540756G>A	ENST00000321725.6	+	18	1955	c.1879G>A	c.(1879-1881)Gtg>Atg	p.V627M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	627	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAGGGTAGACGTGATGGCCGC	0.682																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1879-1881)Gtg>Atg		stabilin 1							52.0	50.0	51.0					3																	52540756		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540756G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1879G>A	3.37:g.52540756G>A	ENSP00000312946:p.Val627Met						p.V627M	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	18	1955	+			627			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1879G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635969	0.14386	.	.	ENSG00000010327	ENST00000321725	T	0.73258	-0.73	4.81	-2.84	0.05751	FAS1 domain (5);	0.613263	0.14682	N	0.304699	T	0.61763	0.2373	M	0.89478	3.035	0.09310	N	1	B;P	0.35944	0.236;0.529	B;B	0.26614	0.05;0.071	T	0.58940	-0.7547	10	0.87932	D	0	.	0.2451	0.00197	0.3614:0.1517:0.1819:0.305	.	627;627	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	M	627	ENSP00000312946:V627M	ENSP00000312946:V627M	V	+	1	0	STAB1	52515796	0.008000	0.16893	0.012000	0.15200	0.006000	0.05464	0.182000	0.16900	-0.447000	0.07138	-0.467000	0.05162	GTG		0.682	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		6	11	0	0	0	1	0	6	11				
SLC16A6	9120	broad.mit.edu	37	17	66267677	66267677	+	Silent	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66267677T>G	ENST00000327268.4	-	6	788	c.624A>C	c.(622-624)ccA>ccC	p.P208P	SLC16A6_ENST00000580666.1_Silent_p.P208P|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	208					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TCGGTGACGCTGGTCCTCTGA	0.468																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(622-624)ccA>ccC		solute carrier family 16, member 6	Pyruvic acid(DB00119)						133.0	127.0	129.0					17																	66267677		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267677T>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.624A>C	17.37:g.66267677T>G						SLC16A6_ENST00000580666.1_Silent_p.P208P|ARSG_ENST00000448504.2_Intron	p.P208P	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	788	-	all_cancers(12;1.24e-09)		208					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.624A>C	CCDS11675.1																																																																																				0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		30	62	0	0	0	1	0	30	62				
HARBI1	283254	broad.mit.edu	37	11	46637658	46637658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46637658G>A	ENST00000326737.3	-	2	377	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000528494.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	44						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAAATGAACTGCCGTGGAAAC	0.493																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(130-132)Cag>Tag		harbinger transposase derived 1							63.0	61.0	62.0					11																	46637658		2201	4299	6500	SO:0001587	stop_gained	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637658G>A	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.130C>T	11.37:g.46637658G>A	ENSP00000317743:p.Gln44*						p.Q44*	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			2	377	-			44					D3DQP9	Nonsense_Mutation	SNP	ENST00000326737.3	37	c.130C>T	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215375	0.95104	.	.	ENSG00000180423	ENST00000326737;ENST00000529192	.	.	.	5.07	4.09	0.47781	.	0.327160	0.36591	N	0.002505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-8.1184	15.2701	0.73693	0.0:0.1405:0.8595:0.0	.	.	.	.	X	44	.	ENSP00000317743:Q44X	Q	-	1	0	HARBI1	46594234	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.899000	0.56288	2.534000	0.85438	0.655000	0.94253	CAG		0.493	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		23	30	0	0	0	1	0	23	30				
ENTPD3	956	broad.mit.edu	37	3	40453444	40453444	+	Missense_Mutation	SNP	G	G	A	rs145124056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40453444G>A	ENST00000301825.3	+	5	546	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	143					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GCTGGGATGCGCTTGCTGAGG	0.502																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(427-429)cGc>cAc		ectonucleoside triphosphate diphosphohydrolase 3		G	HIS/ARG	0,4406		0,0,2203	53.0	43.0	46.0		428	5.6	1.0	3	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENTPD3	NM_001248.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	143/530	40453444	1,13005	2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40453444G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.428G>A	3.37:g.40453444G>A	ENSP00000301825:p.Arg143His					ENTPD3_ENST00000445129.1_Missense_Mutation_p.R143H|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R143H|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	p.R143H	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	5	546	+			143					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.428G>A	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242820	0.95272	0.0	1.16E-4	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.41065	1.01;1.01;1.01	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82713	-0.0321	10	0.87932	D	0	-21.1279	17.579	0.87960	0.0:0.0:1.0:0.0	.	143	O75355	ENTP3_HUMAN	H	143	ENSP00000301825:R143H;ENSP00000401565:R143H;ENSP00000404671:R143H	ENSP00000301825:R143H	R	+	2	0	ENTPD3	40428448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.760000	0.91671	2.832000	0.97577	0.655000	0.94253	CGC		0.502	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		16	20	0	0	0	1	0	16	20				
LRIG1	26018	broad.mit.edu	37	3	66467646	66467646	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66467646G>A	ENST00000273261.3	-	4	934	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRIG1_ENST00000383703.3_Missense_Mutation_p.A137V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	137					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAAAGGTAGGCCTTCAGCTG	0.488																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(409-411)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 1							252.0	227.0	235.0					3																	66467646		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467646G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.410C>T	3.37:g.66467646G>A	ENSP00000273261:p.Ala137Val					LRIG1_ENST00000273261.3_Missense_Mutation_p.A137V	p.A137V			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	1013	-		Lung NSC(201;0.0101)	137					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.410C>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745468	0.15710	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57595	0.39;0.39	5.95	5.06	0.68205	.	0.470907	0.24031	N	0.042187	T	0.33498	0.0865	N	0.08118	0	0.09310	N	0.999999	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.007	T	0.09357	-1.0678	10	0.18276	T	0.48	.	16.3198	0.82945	0.0:0.0:0.8667:0.1333	.	137;137	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	137;137;64	ENSP00000273261:A137V;ENSP00000373208:A137V	ENSP00000273261:A137V	A	-	2	0	LRIG1	66550336	0.986000	0.35501	0.823000	0.32752	0.036000	0.12997	2.949000	0.49074	1.485000	0.48380	0.643000	0.83706	GCC		0.488	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		55	95	0	0	0	1	0	55	95				
C12orf40	283461	broad.mit.edu	37	12	40085893	40085893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:40085893C>T	ENST00000324616.5	+	11	1544	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	C12orf40_ENST00000405531.3_Nonsense_Mutation_p.R464*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	464										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAAAGCAAGCGAATATCTAC	0.244																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1390-1392)Cga>Tga		chromosome 12 open reading frame 40							30.0	29.0	29.0					12																	40085893		1772	3972	5744	SO:0001587	stop_gained	283461							g.chr12:40085893C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1390C>T	12.37:g.40085893C>T	ENSP00000317671:p.Arg464*					C12orf40_ENST00000405531.3_Nonsense_Mutation_p.R464*	p.R464*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			11	1544	+			464					B7WNU1|Q8IXY6|Q8N818|V9HW02	Nonsense_Mutation	SNP	ENST00000324616.5	37	c.1390C>T	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668526	0.29604	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	.	.	.	3.09	1.2	0.21068	.	0.838313	0.10084	N	0.717994	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.3993	0.16286	0.2509:0.5356:0.2135:0.0	.	.	.	.	X	464	.	ENSP00000317671:R464X	R	+	1	2	C12orf40	38372160	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.078000	0.11375	0.320000	0.23234	0.462000	0.41574	CGA		0.244	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	28	0	0	0	1	0	8	28				
CELSR2	1952	broad.mit.edu	37	1	109805882	109805882	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109805882C>T	ENST00000271332.3	+	8	4888	c.4827C>T	c.(4825-4827)tgC>tgT	p.C1609C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1609	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCAAGAGCTGCGCCCAGGGTA	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4825-4827)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 2							26.0	26.0	26.0					1																	109805882		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805882C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4827C>T	1.37:g.109805882C>T							p.C1609C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	8	4888	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1609			EGF-like 4; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4827C>T	CCDS796.1																																																																																				0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		16	14	0	0	0	1	0	16	14				
MEF2D	4209	broad.mit.edu	37	1	156438739	156438739	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156438739A>G	ENST00000348159.4	-	10	1560	c.1080T>C	c.(1078-1080)aaT>aaC	p.N360N	MEF2D_ENST00000340875.5_Silent_p.N359N|MEF2D_ENST00000360595.3_Silent_p.N353N|MEF2D_ENST00000464356.2_Silent_p.N352N|MEF2D_ENST00000368240.2_Silent_p.N353N|MEF2D_ENST00000353795.3_Silent_p.N314N	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	360					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCAGTGACATTGCCTAGCG	0.607																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1078-1080)aaT>aaC		myocyte enhancer factor 2D							52.0	50.0	51.0					1																	156438739		2203	4300	6503	SO:0001819	synonymous_variant	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156438739A>G	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1080T>C	1.37:g.156438739A>G						MEF2D_ENST00000360595.3_Silent_p.N353N|MEF2D_ENST00000340875.5_Silent_p.N359N|MEF2D_ENST00000353795.3_Silent_p.N314N|MEF2D_ENST00000368240.2_Silent_p.N353N|MEF2D_ENST00000464356.1_Intron	p.N360N	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			10	1560	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		360					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Silent	SNP	ENST00000348159.4	37	c.1080T>C	CCDS1143.1																																																																																				0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		18	14	0	0	0	1	0	18	14				
OR6K2	81448	broad.mit.edu	37	1	158669921	158669921	+	Silent	SNP	T	T	C	rs546431910		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158669921T>C	ENST00000359610.2	-	1	565	c.522A>G	c.(520-522)gaA>gaG	p.E174E		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGATATGTTCAAGGTGAT	0.488																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(520-522)gaA>gaG		olfactory receptor, family 6, subfamily K, member 2							128.0	110.0	116.0					1																	158669921		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669921T>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.522A>G	1.37:g.158669921T>C							p.E174E	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	565	-	all_hematologic(112;0.0378)		174					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.522A>G	CCDS30902.1																																																																																				0.488	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		21	33	0	0	0	1	0	21	33				
NRP2	8828	broad.mit.edu	37	2	206590772	206590772	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:206590772C>T	ENST00000357785.5	+	6	987	c.956C>T	c.(955-957)aCc>aTc	p.T319I	NRP2_ENST00000272849.3_Missense_Mutation_p.T319I|NRP2_ENST00000355117.4_Missense_Mutation_p.T319I|NRP2_ENST00000417189.1_Missense_Mutation_p.T319I|NRP2_ENST00000412873.2_Missense_Mutation_p.T319I|NRP2_ENST00000357118.4_Missense_Mutation_p.T319I|NRP2_ENST00000360409.3_Missense_Mutation_p.T319I|NRP2_ENST00000540841.1_Missense_Mutation_p.T319I|NRP2_ENST00000540178.1_Missense_Mutation_p.T319I			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AATGGCTGGACCCCCAACTTG	0.522																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(955-957)aCc>aTc		neuropilin 2							117.0	100.0	105.0					2																	206590772		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590772C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.956C>T	2.37:g.206590772C>T	ENSP00000350432:p.Thr319Ile					NRP2_ENST00000540841.1_Missense_Mutation_p.T319I|NRP2_ENST00000357118.4_Missense_Mutation_p.T319I|NRP2_ENST00000272849.3_Missense_Mutation_p.T319I|NRP2_ENST00000357785.5_Missense_Mutation_p.T319I|NRP2_ENST00000417189.1_Missense_Mutation_p.T319I|NRP2_ENST00000540178.1_Missense_Mutation_p.T319I|NRP2_ENST00000412873.2_Missense_Mutation_p.T319I|NRP2_ENST00000355117.4_Missense_Mutation_p.T319I	p.T319I	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			6	1747	+			319			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.956C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261222	0.95368	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77;-4.77	5.8	5.8	0.92144	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	L	0.41027	1.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;D;D;D	0.79108	0.992;0.992;0.962;0.992;0.992;0.967	D	0.99741	1.1015	10	0.59425	D	0.04	-29.1511	20.063	0.97692	0.0:1.0:0.0:0.0	.	319;319;319;319;319;319	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	I	319	ENSP00000353582:T319I;ENSP00000439658:T319I;ENSP00000439261:T319I;ENSP00000347238:T319I;ENSP00000387519:T319I;ENSP00000349632:T319I;ENSP00000350432:T319I;ENSP00000407626:T319I;ENSP00000272849:T319I	ENSP00000272849:T319I	T	+	2	0	NRP2	206299017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	ACC		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			17	28	0	0	0	1	0	17	28				
GADL1	339896	broad.mit.edu	37	3	30880563	30880563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:30880563C>T	ENST00000282538.5	-	9	979	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GADL1_ENST00000454381.3_Missense_Mutation_p.V277M	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	277					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GCTCCCAACACAGTTGTACCA	0.448																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(829-831)Gtg>Atg		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						89.0	82.0	85.0					3																	30880563		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30880563C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.829G>A	3.37:g.30880563C>T	ENSP00000282538:p.Val277Met					GADL1_ENST00000282538.5_Missense_Mutation_p.V277M	p.V277M			Q6ZQY3	GADL1_HUMAN			9	875	-			277						Missense_Mutation	SNP	ENST00000282538.5	37	c.829G>A	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010098	0.93346	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.38560	1.13;1.13	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.127611	0.50627	D	0.000115	T	0.77994	0.4214	H	0.96576	3.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.84806	0.0787	10	0.72032	D	0.01	-13.1067	20.0294	0.97532	0.0:1.0:0.0:0.0	.	277	Q6ZQY3	GADL1_HUMAN	M	277	ENSP00000282538:V277M;ENSP00000427059:V277M	ENSP00000282538:V277M	V	-	1	0	GADL1	30855567	1.000000	0.71417	0.642000	0.29436	0.996000	0.88848	7.445000	0.80570	2.814000	0.96858	0.655000	0.94253	GTG		0.448	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		17	35	0	0	0	1	0	17	35				
VWA2	340706	broad.mit.edu	37	10	116046009	116046009	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116046009G>A	ENST00000392982.3	+	11	1559	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	VWA2_ENST00000603594.1_Missense_Mutation_p.A437T			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTTCGGGAGCGCCACCAGGAC	0.677																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1309-1311)Gcc>Acc		von Willebrand factor A domain containing 2							58.0	49.0	52.0					10																	116046009		2203	4299	6502	SO:0001583	missense	340706					extracellular region		g.chr10:116046009G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1309G>A	10.37:g.116046009G>A	ENSP00000376708:p.Ala437Thr					VWA2_ENST00000392982.3_Missense_Mutation_p.A437T	p.A437T	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1630	+			437			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1309G>A		.	.	.	.	.	.	.	.	.	.	G	5.786	0.329306	0.10956	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78246	-1.16	5.6	3.42	0.39159	von Willebrand factor, type A (3);	0.334636	0.32204	N	0.006428	T	0.59582	0.2204	N	0.21097	0.63	0.09310	N	1	B;B;B	0.23650	0.035;0.089;0.015	B;B;B	0.18871	0.011;0.023;0.01	T	0.45145	-0.9281	10	0.29301	T	0.29	.	6.6945	0.23191	0.2075:0.0:0.6485:0.144	.	133;437;437	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	T	437	ENSP00000376708:A437T	ENSP00000298715:A437T	A	+	1	0	VWA2	116035999	0.000000	0.05858	0.397000	0.26308	0.070000	0.16714	0.224000	0.17738	1.363000	0.46019	0.563000	0.77884	GCC		0.677	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		22	22	0	0	0	1	0	22	22				
OR52E6	390078	broad.mit.edu	37	11	5862274	5862274	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5862274G>T	ENST00000329322.5	-	1	853	c.854C>A	c.(853-855)cCt>cAt	p.P285H	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.P289H	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGTGGGAGGAACAACCAC	0.403																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(853-855)cCt>cAt		olfactory receptor, family 52, subfamily E, member 6							95.0	97.0	97.0					11																	5862274		2081	4247	6328	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862274G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.854C>A	11.37:g.5862274G>T	ENSP00000328878:p.Pro285His					OR52E6_ENST00000379946.2_Missense_Mutation_p.P289H|TRIM5_ENST00000380027.1_Intron	p.P285H	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	853	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	285					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.854C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262721	0.23051	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.37058	1.22;1.22	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.66790	0.2825	H	0.94503	3.545	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62081	-0.6929	10	0.87932	D	0	.	10.6797	0.45807	0.0:0.1964:0.8036:0.0	.	285	Q96RD3	O52E6_HUMAN	H	285;289	ENSP00000328878:P285H;ENSP00000369279:P289H	ENSP00000328878:P285H	P	-	2	0	OR52E6	5818850	0.856000	0.29760	0.005000	0.12908	0.297000	0.27493	3.280000	0.51677	1.750000	0.51863	0.551000	0.68910	CCT		0.403	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		22	44	1	0	7.41877e-09	1	7.84611e-09	22	44				
ARPC5L	81873	broad.mit.edu	37	9	127637403	127637403	+	Silent	SNP	C	C	T	rs145806785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127637403C>T	ENST00000353214.2	+	5	1624	c.372C>T	c.(370-372)agC>agT	p.S124S	ARPC5L_ENST00000259477.6_Silent_p.S124S|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	124					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AAAATAGCAGCGCAGTGTTAC	0.512																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(370-372)agC>agT		actin related protein 2/3 complex, subunit 5-like		C		1,4405	2.1+/-5.4	0,1,2202	85.0	86.0	86.0		372	-11.5	0.1	9	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	ARPC5L	NM_030978.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		124/154	127637403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127637403C>T	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.372C>T	9.37:g.127637403C>T						ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Silent_p.S124S	p.S124S			Q9BPX5	ARP5L_HUMAN			5	1624	+			124					Q7Z523	Silent	SNP	ENST00000353214.2	37	c.372C>T	CCDS6859.1																																																																																				0.512	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		28	43	0	0	0	1	0	28	43				
FNDC1	84624	broad.mit.edu	37	6	159653200	159653200	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159653200G>A	ENST00000297267.9	+	11	1856	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	FNDC1_ENST00000340366.6_Silent_p.S489S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	552					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAGGACTCGCCCATGTCAC	0.632																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1654-1656)tcG>tcA		fibronectin type III domain containing 1							31.0	38.0	35.0					6																	159653200		2007	4173	6180	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653200G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1656G>A	6.37:g.159653200G>A						FNDC1_ENST00000340366.6_Silent_p.S489S	p.S552S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	1856	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	552					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1656G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214323	0.09810	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.04272	0.0118	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	T	0.16928	-1.0386	4	.	.	.	-2.2746	2.0042	0.03474	0.2035:0.3962:0.1272:0.2732	.	.	.	.	T	448	.	.	A	+	1	0	FNDC1	159573190	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.906000	0.04071	-1.905000	0.01090	-1.316000	0.01300	GCC		0.632	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	13	0	0	0	1	0	6	13				
CYP4Z1	199974	broad.mit.edu	37	1	47560306	47560306	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47560306C>T	ENST00000334194.3	+	7	844	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	281						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCAGAAAAGGCGCTGGGATTT	0.358																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(841-843)Cgc>Tgc		cytochrome P450, family 4, subfamily Z, polypeptide 1							62.0	63.0	63.0					1																	47560306		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47560306C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.841C>T	1.37:g.47560306C>T	ENSP00000334246:p.Arg281Cys						p.R281C	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			7	844	+			281					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.841C>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310280	0.23821	.	.	ENSG00000186160	ENST00000334194	T	0.70282	-0.47	2.06	-4.12	0.03916	.	0.526477	0.16155	N	0.227066	T	0.59905	0.2228	L	0.54863	1.705	0.09310	N	1	P	0.46327	0.876	P	0.45138	0.471	T	0.55768	-0.8089	10	0.49607	T	0.09	.	4.4291	0.11518	0.0:0.3575:0.1739:0.4685	.	281	Q86W10	CP4Z1_HUMAN	C	281	ENSP00000334246:R281C	ENSP00000334246:R281C	R	+	1	0	CYP4Z1	47332893	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.005000	0.03674	-0.990000	0.03481	-1.963000	0.00474	CGC		0.358	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		26	28	0	0	0	1	0	26	28				
USP14	9097	broad.mit.edu	37	18	198100	198100	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:198100C>T	ENST00000261601.7	+	9	820	c.729C>T	c.(727-729)atC>atT	p.I243I	USP14_ENST00000383589.2_Silent_p.I197I|USP14_ENST00000582707.1_Silent_p.I208I|USP14_ENST00000400266.3_Silent_p.I232I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	243	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AAAGTTTAATCGATCAGTTCT	0.323																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(727-729)atC>atT		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							70.0	73.0	72.0					18																	198100		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:198100C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.729C>T	18.37:g.198100C>T						USP14_ENST00000582707.1_Silent_p.I208I|USP14_ENST00000383589.2_Silent_p.I197I|USP14_ENST00000400266.3_Silent_p.I232I	p.I243I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			9	820	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	243					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.729C>T	CCDS32780.1																																																																																				0.323	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		21	38	0	0	0	1	0	21	38				
NOL4	8715	broad.mit.edu	37	18	31537346	31537346	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:31537346G>A	ENST00000261592.5	-	8	1669	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	NOL4_ENST00000535384.1_Missense_Mutation_p.R173C|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R384C|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	458						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTACGTATACGTTTTCTGGCA	0.453																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1372-1374)Cgt>Tgt		nucleolar protein 4							216.0	178.0	191.0					18																	31537346		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31537346G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1372C>T	18.37:g.31537346G>A	ENSP00000261592:p.Arg458Cys					NOL4_ENST00000535384.1_Missense_Mutation_p.R173C|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R384C|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Intron	p.R458C	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			8	1669	-			458					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1372C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438124	0.83885	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	D;D	0.85258	-1.96;-1.96	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92238	0.5798	10	0.87932	D	0	-8.6583	20.5073	0.99209	0.0:0.0:1.0:0.0	.	384;458	B4DSQ0;O94818	.;NOL4_HUMAN	C	458;173;384	ENSP00000445733:R173C;ENSP00000443472:R384C	ENSP00000261592:R458C	R	-	1	0	NOL4	29791344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGT		0.453	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		20	36	0	0	0	1	0	20	36				
STRAP	11171	broad.mit.edu	37	12	16053889	16053889	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:16053889A>G	ENST00000419869.2	+	9	1247	c.934A>G	c.(934-936)Agt>Ggt	p.S312G	STRAP_ENST00000025399.6_Missense_Mutation_p.S325G|STRAP_ENST00000538352.1_Missense_Mutation_p.S218G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	312					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				AGAAGAAGATAGTGGTGAGCT	0.363																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(934-936)Agt>Ggt		serine/threonine kinase receptor associated protein							69.0	66.0	67.0					12																	16053889		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16053889A>G	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.934A>G	12.37:g.16053889A>G	ENSP00000392270:p.Ser312Gly					STRAP_ENST00000025399.6_Missense_Mutation_p.S325G|STRAP_ENST00000538352.1_Missense_Mutation_p.S218G	p.S312G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			9	1247	+		Hepatocellular(102;0.121)	312					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.934A>G	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634955	0.29068	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.62105	0.13;0.09;0.05	4.92	3.74	0.42951	.	0.743446	0.14173	N	0.336575	T	0.37517	0.1006	N	0.08118	0	0.26973	N	0.965531	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13176	-1.0519	10	0.23302	T	0.38	-15.1361	7.7654	0.28976	0.8399:0.0:0.1601:0.0	.	325;312	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	G	218;325;312	ENSP00000439761:S218G;ENSP00000025399:S325G;ENSP00000392270:S312G	ENSP00000025399:S325G	S	+	1	0	STRAP	15945156	0.994000	0.37717	0.999000	0.59377	0.979000	0.70002	2.256000	0.43231	2.074000	0.62210	0.528000	0.53228	AGT		0.363	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		15	24	0	0	0	1	0	15	24				
FAM118B	79607	broad.mit.edu	37	11	126126678	126126678	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126126678G>T	ENST00000533050.1	+	7	1406	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	FAM118B_ENST00000529731.1_Missense_Mutation_p.D229Y|FAM118B_ENST00000360194.4_Missense_Mutation_p.D305Y	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	305										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTCCTATGGAGATGACTATGC	0.443																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(913-915)Gat>Tat		family with sequence similarity 118, member B							161.0	168.0	166.0					11																	126126678		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126126678G>T	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.913G>T	11.37:g.126126678G>T	ENSP00000433343:p.Asp305Tyr					FAM118B_ENST00000360194.4_Missense_Mutation_p.D305Y	p.D305Y	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1406	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	305					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.913G>T	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411632	0.42817	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.04	2.67	0.31697	.	0.233302	0.43919	D	0.000503	T	0.23370	0.0565	L	0.27053	0.805	0.25414	N	0.988337	P;B;B	0.34826	0.471;0.34;0.34	B;B;B	0.40285	0.325;0.174;0.241	T	0.14337	-1.0476	10	0.87932	D	0	-15.5667	7.4447	0.27205	0.7173:0.0:0.2827:0.0	.	229;305;305	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	Y	305;305;229;305;229	ENSP00000433343:D305Y;ENSP00000434952:D305Y;ENSP00000432712:D229Y;ENSP00000353321:D305Y;ENSP00000435754:D229Y	ENSP00000353321:D305Y	D	+	1	0	FAM118B	125631888	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.862000	0.39448	0.947000	0.37659	-0.312000	0.09012	GAT		0.443	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		67	113	1	0	3.28615e-30	1	3.68232e-30	67	113				
ANK2	287	broad.mit.edu	37	4	114278013	114278013	+	Missense_Mutation	SNP	C	C	A	rs376628082		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114278013C>A	ENST00000357077.4	+	38	8292	c.8239C>A	c.(8239-8241)Cgt>Agt	p.R2747S	ANK2_ENST00000264366.6_Missense_Mutation_p.R2714S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2747					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCTGAAGACCGTCATGCTGT	0.418																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8239-8241)Cgt>Agt		ankyrin 2, neuronal							74.0	69.0	71.0					4																	114278013		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278013C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8239C>A	4.37:g.114278013C>A	ENSP00000349588:p.Arg2747Ser					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2714S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.R2747S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8292	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2714					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8239C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	2.160	-0.392351	0.04932	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.64438	-0.08;-0.1	6.03	2.42	0.29668	.	0.474192	0.21144	N	0.079421	T	0.18841	0.0452	N	0.00197	-1.87	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	9	.	.	.	.	5.3494	0.16028	0.6536:0.1379:0.2085:0.0	.	2714;2747	Q01484;Q01484-4	ANK2_HUMAN;.	S	2747;2714	ENSP00000349588:R2747S;ENSP00000264366:R2714S	.	R	+	1	0	ANK2	114497462	0.000000	0.05858	0.010000	0.14722	0.166000	0.22503	0.455000	0.21843	0.189000	0.20188	-0.256000	0.11100	CGT		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		21	50	1	0	7.45023e-12	1	8.03714e-12	21	50				
DNAH1	25981	broad.mit.edu	37	3	52422840	52422840	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52422840G>A	ENST00000420323.2	+	59	9643	c.9382G>A	c.(9382-9384)Gat>Aat	p.D3128N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3193					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTGTCGGATGAGAAGGT	0.662																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9382-9384)Gat>Aat		dynein, axonemal, heavy chain 1							45.0	53.0	51.0					3																	52422840		2096	4211	6307	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422840G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9382G>A	3.37:g.52422840G>A	ENSP00000401514:p.Asp3128Asn						p.D3128N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	59	9643	+			3193					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.9382G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653274	0.47362	.	.	ENSG00000114841	ENST00000420323	T	0.74106	-0.81	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.85617	0.5738	M	0.81942	2.565	0.47009	D	0.999286	D	0.76494	0.999	D	0.74348	0.983	D	0.87485	0.2423	10	0.72032	D	0.01	.	13.5592	0.61779	0.0775:0.0:0.9225:0.0	.	3128	C9JXH6	.	N	3128	ENSP00000401514:D3128N	ENSP00000401514:D3128N	D	+	1	0	DNAH1	52397880	1.000000	0.71417	0.131000	0.22000	0.513000	0.34164	9.049000	0.93837	2.288000	0.76882	0.561000	0.74099	GAT		0.662	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	21	0	0	0	1	0	16	21				
KIAA0556	23247	broad.mit.edu	37	16	27761416	27761416	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27761416G>A	ENST00000261588.4	+	16	3154	c.3135G>A	c.(3133-3135)atG>atA	p.M1045I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1045						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGATGACATGCATGTCTGGC	0.557																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3133-3135)atG>atA		KIAA0556							87.0	76.0	80.0					16																	27761416		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761416G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3135G>A	16.37:g.27761416G>A	ENSP00000261588:p.Met1045Ile						p.M1045I	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	3154	+			1045					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3135G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928234	0.73327	.	.	ENSG00000047578	ENST00000261588	T	0.13657	2.57	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42008	1.315	0.50813	D	0.999895	P	0.36110	0.537	B	0.40009	0.316	T	0.01235	-1.1410	10	0.48119	T	0.1	-20.203	18.9768	0.92740	0.0:0.0:1.0:0.0	.	1045	O60303	K0556_HUMAN	I	1045	ENSP00000261588:M1045I	ENSP00000261588:M1045I	M	+	3	0	KIAA0556	27668917	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.650000	0.83521	2.625000	0.88918	0.655000	0.94253	ATG		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		10	19	0	0	0	1	0	10	19				
MCMDC2	157777	broad.mit.edu	37	8	67796214	67796214	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:67796214C>T	ENST00000422365.2	+	9	1229	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	MCMDC2_ENST00000541540.1_Missense_Mutation_p.T290I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.T353I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.T353I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.T353I	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	353					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ACAAGTGATACTCTACTCATA	0.333																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1057-1059)aCt>aTt		minichromosome maintenance domain containing 2							46.0	47.0	47.0					8																	67796214		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67796214C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1058C>T	8.37:g.67796214C>T	ENSP00000413632:p.Thr353Ile					MCMDC2_ENST00000396592.3_Missense_Mutation_p.T353I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.T353I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.T290I|MCMDC2_ENST00000313616.5_Missense_Mutation_p.T353I	p.T353I	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			9	1229	+			353					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1058C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197471	0.58126	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.46	2.43	0.29744	.	0.267755	0.41938	D	0.000800	T	0.32971	0.0847	L	0.58101	1.795	0.42524	D	0.993014	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.11329	0.006;0.003;0.003;0.006	T	0.25152	-1.0140	10	0.87932	D	0	-6.145	9.3201	0.37959	0.2562:0.6756:0.0:0.0682	.	290;353;353;353	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	I	225;353;353;353;353;290	ENSP00000379837:T353I;ENSP00000413632:T353I;ENSP00000428037:T353I;ENSP00000317234:T353I;ENSP00000445629:T290I	ENSP00000317234:T353I	T	+	2	0	C8orf45	67958768	0.978000	0.34361	0.999000	0.59377	0.687000	0.40016	1.969000	0.40510	0.751000	0.32900	0.655000	0.94253	ACT		0.333	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		17	33	0	0	0	1	0	17	33				
ZNF233	353355	broad.mit.edu	37	19	44777926	44777926	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44777926A>G	ENST00000391958.2	+	5	1240	c.1113A>G	c.(1111-1113)acA>acG	p.T371T	ZNF233_ENST00000334152.1_Silent_p.T353T|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGTTGTGTACATGTGGCAGGT	0.473																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1111-1113)acA>acG		zinc finger protein 233							103.0	105.0	104.0					19																	44777926		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777926A>G	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1113A>G	19.37:g.44777926A>G						ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T353T|ZNF235_ENST00000589799.1_Intron	p.T371T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1240	+		Prostate(69;0.0435)|all_neural(266;0.226)	371					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1113A>G	CCDS33047.1																																																																																				0.473	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		21	23	0	0	0	1	0	21	23				
ITGA3	3675	broad.mit.edu	37	17	48166588	48166588	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48166588C>T	ENST00000320031.8	+	0	3632				ITGA3_ENST00000007722.7_Missense_Mutation_p.H1054Y	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACCAAGAAGCACTGGGTGAC	0.597																																						ENST00000007722.7																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3160-3162)Cac>Tac		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							125.0	108.0	114.0					17																	48166588		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48166588C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.*146C>T	17.37:g.48166588C>T						ITGA3_ENST00000320031.8_3'UTR	p.H1054Y			P26006	ITA3_HUMAN			25	3160	+			0					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.3160C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531147	0.64972	.	.	ENSG00000005884	ENST00000007722	T	0.67345	-0.26	4.77	4.77	0.60923	.	0.497801	0.20733	N	0.086673	T	0.58991	0.2161	.	.	.	0.80722	D	1	B	0.24823	0.112	B	0.22880	0.042	T	0.58679	-0.7594	9	0.48119	T	0.1	.	15.048	0.71841	0.0:1.0:0.0:0.0	.	1054	P26006-1	.	Y	1054	ENSP00000007722:H1054Y	ENSP00000007722:H1054Y	H	+	1	0	ITGA3	45521587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.477000	0.53151	2.353000	0.79882	0.591000	0.81541	CAC		0.597	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		24	27	0	0	0	1	0	24	27				
RSPH4A	345895	broad.mit.edu	37	6	116949448	116949448	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116949448C>T	ENST00000229554.5	+	3	1715	c.1578C>T	c.(1576-1578)aaC>aaT	p.N526N	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.N526N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	526	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGAGGAAAACCCTGATTTTG	0.458									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1576-1578)aaC>aaT		radial spoke head 4 homolog A (Chlamydomonas)							130.0	133.0	132.0					6																	116949448		2203	4300	6503	SO:0001819	synonymous_variant	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949448C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1578C>T	6.37:g.116949448C>T						RSPH4A_ENST00000368581.4_Silent_p.N526N|RSPH4A_ENST00000368580.4_Intron	p.N526N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1715	+			526			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.1578C>T	CCDS34521.1																																																																																				0.458	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		4	121	0	0	0	1	0	4	121				
CLCNKA	1187	broad.mit.edu	37	1	16353830	16353830	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16353830G>A	ENST00000331433.4	+	8	700	c.681G>A	c.(679-681)atG>atA	p.M227I	CLCNKA_ENST00000439316.2_Missense_Mutation_p.M184I|CLCNKA_ENST00000375692.1_Missense_Mutation_p.M227I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M227I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	227					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCGAGGTCATGTCTTCCCACT	0.642																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(679-681)atG>atA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						92.0	94.0	93.0					1																	16353830		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353830G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.681G>A	1.37:g.16353830G>A	ENSP00000332771:p.Met227Ile					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.M227I|CLCNKA_ENST00000439316.2_Missense_Mutation_p.M184I|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M227I	p.M227I			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	809	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	227					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.681G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.500945	0.64298	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	3.02	3.02	0.34903	Chloride channel, core (2);	0.130765	0.64402	N	0.000001	D	0.92993	0.7770	L	0.49571	1.57	0.43994	D	0.996699	B;B;B	0.30361	0.277;0.277;0.277	P;P;P	0.46585	0.465;0.521;0.521	D	0.92327	0.5870	10	0.72032	D	0.01	.	9.1509	0.36962	0.0:0.0:0.7822:0.2178	.	184;227;227	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	I	227;227;184;227	ENSP00000364844:M227I;ENSP00000410353:M227I;ENSP00000414445:M184I;ENSP00000332771:M227I	ENSP00000332771:M227I	M	+	3	0	CLCNKA	16226417	0.990000	0.36364	1.000000	0.80357	0.976000	0.68499	1.173000	0.31920	1.674000	0.50907	0.313000	0.20887	ATG		0.642	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			25	99	0	0	0	1	0	25	99				
NETO1	81832	broad.mit.edu	37	18	70450987	70450987	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:70450987C>T	ENST00000327305.6	-	7	1451	c.794G>A	c.(793-795)gGg>gAg	p.G265E	NETO1_ENST00000299430.2_Missense_Mutation_p.G264E|NETO1_ENST00000583169.1_Missense_Mutation_p.G265E	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	265	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCGGATCACCCCAAGACCCGT	0.468																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(793-795)gGg>gAg		neuropilin (NRP) and tolloid (TLL)-like 1							193.0	164.0	174.0					18																	70450987		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450987C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.794G>A	18.37:g.70450987C>T	ENSP00000313088:p.Gly265Glu					NETO1_ENST00000583169.1_Missense_Mutation_p.G265E|NETO1_ENST00000299430.2_Missense_Mutation_p.G264E	p.G265E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1451	-		Esophageal squamous(42;0.129)	265			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.794G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693866	0.88735	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.17528	2.27;2.27	5.54	3.72	0.42706	CUB (5);	0.094486	0.44902	D	0.000403	T	0.41328	0.1154	M	0.75447	2.3	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.65684	0.892;0.937	T	0.43507	-0.9387	10	0.66056	D	0.02	-24.0699	16.3041	0.82841	0.0:0.7497:0.2503:0.0	.	264;265	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	E	265;264	ENSP00000313088:G265E;ENSP00000299430:G264E	ENSP00000299430:G264E	G	-	2	0	NETO1	68601967	1.000000	0.71417	0.905000	0.35620	0.916000	0.54674	6.045000	0.71020	0.779000	0.33543	0.650000	0.86243	GGG		0.468	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		35	80	0	0	0	1	0	35	80				
STAT2	6773	broad.mit.edu	37	12	56745142	56745142	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56745142G>A	ENST00000314128.4	-	9	898	c.875C>T	c.(874-876)cCt>cTt	p.P292L	STAT2_ENST00000556539.1_5'Flank|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.P288L|STAT2_ENST00000557235.1_Missense_Mutation_p.P288L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	292					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTTGGTCAGAGGGTCATCCTG	0.572																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(874-876)cCt>cTt		signal transducer and activator of transcription 2, 113kDa							234.0	207.0	216.0					12																	56745142		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56745142G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.875C>T	12.37:g.56745142G>A	ENSP00000315768:p.Pro292Leu					STAT2_ENST00000418572.2_Missense_Mutation_p.P288L|STAT2_ENST00000557235.1_Missense_Mutation_p.P288L	p.P292L			P52630	STAT2_HUMAN			9	898	-			292					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.875C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101928	0.37048	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61040	0.14;0.14;0.14	4.32	2.39	0.29439	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.257560	0.38381	N	0.001704	T	0.49029	0.1533	L	0.54323	1.7	0.52501	D	0.999957	B;B;B	0.20052	0.041;0.025;0.004	B;B;B	0.28553	0.091;0.069;0.007	T	0.47129	-0.9141	10	0.72032	D	0.01	0.4973	4.6757	0.12710	0.1074:0.0:0.5089:0.3837	.	288;288;292	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	L	292;288;288	ENSP00000315768:P292L;ENSP00000450751:P288L;ENSP00000387354:P288L	ENSP00000315768:P292L	P	-	2	0	STAT2	55031409	0.981000	0.34729	0.004000	0.12327	0.094000	0.18550	1.795000	0.38784	0.523000	0.28482	0.460000	0.39030	CCT		0.572	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		64	89	0	0	0	1	0	64	89				
ZNF510	22869	broad.mit.edu	37	9	99521387	99521387	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99521387G>A	ENST00000375231.1	-	6	2375	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	ZNF510_ENST00000223428.4_Silent_p.N575N			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCCACATTCGTTACATTTGA	0.388																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1723-1725)aaC>aaT		zinc finger protein 510							78.0	77.0	77.0					9																	99521387		2203	4300	6503	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521387G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1725C>T	9.37:g.99521387G>A						ZNF510_ENST00000223428.4_Silent_p.N575N	p.N575N			Q9Y2H8	ZN510_HUMAN			6	2375	-		Acute lymphoblastic leukemia(62;0.0527)	575					Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.1725C>T	CCDS35074.1																																																																																				0.388	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		34	63	0	0	0	1	0	34	63				
ERBB2IP	55914	broad.mit.edu	37	5	65344584	65344584	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65344584C>T	ENST00000284037.5	+	19	2267	c.1878C>T	c.(1876-1878)gtC>gtT	p.V626V	ERBB2IP_ENST00000380943.2_Silent_p.V626V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Silent_p.V626V|ERBB2IP_ENST00000506030.1_Silent_p.V626V|ERBB2IP_ENST00000508515.1_Silent_p.V626V|ERBB2IP_ENST00000380938.2_Silent_p.V626V|ERBB2IP_ENST00000380935.1_Silent_p.V626V|ERBB2IP_ENST00000380939.2_Silent_p.V626V|ERBB2IP_ENST00000511297.1_Silent_p.V622V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	626					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGCCAAAAGTCGTAGCACTTA	0.313																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1876-1878)gtC>gtT		erbb2 interacting protein							55.0	58.0	57.0					5																	65344584		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65344584C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1878C>T	5.37:g.65344584C>T						ERBB2IP_ENST00000380935.1_Silent_p.V626V|ERBB2IP_ENST00000380939.2_Silent_p.V626V|ERBB2IP_ENST00000380936.1_Silent_p.V626V|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Silent_p.V622V|ERBB2IP_ENST00000380938.2_Silent_p.V626V|ERBB2IP_ENST00000380943.2_Silent_p.V626V|ERBB2IP_ENST00000506030.1_Silent_p.V626V|ERBB2IP_ENST00000508515.1_Silent_p.V626V	p.V626V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	19	2267	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	626					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.1878C>T	CCDS58953.1																																																																																				0.313	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		25	35	0	0	0	1	0	25	35				
BEND4	389206	broad.mit.edu	37	4	42119708	42119708	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42119708G>A	ENST00000502486.1	-	6	2011	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	478	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCTTCCGAGGGCATCCACCAA	0.493																																						ENST00000502486.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1432-1434)Ccc>Tcc		BEN domain containing 4							32.0	31.0	31.0					4																	42119708		1858	4093	5951	SO:0001583	missense	389206							g.chr4:42119708G>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1432C>T	4.37:g.42119708G>A	ENSP00000421169:p.Pro478Ser					BEND4_ENST00000504360.1_3'UTR	p.P478S	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN			6	2011	-			478			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1432C>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235862	0.95240	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	T	0.39787	1.06	5.41	5.41	0.78517	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60434	-0.7264	10	0.87932	D	0	-2.6234	19.5583	0.95363	0.0:0.0:1.0:0.0	.	478	Q6ZU67	BEND4_HUMAN	S	349;478	ENSP00000421169:P478S	ENSP00000412495:P349S	P	-	1	0	BEND4	41814465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.691000	0.91804	0.561000	0.74099	CCC		0.493	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		3	7	0	0	0	1	0	3	7				
RUVBL2	10856	broad.mit.edu	37	19	49507653	49507653	+	Silent	SNP	G	G	A	rs377545771		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49507653G>A	ENST00000595090.1	+	4	707	c.243G>A	c.(241-243)acG>acA	p.T81T	RUVBL2_ENST00000413176.2_Silent_p.T36T|RUVBL2_ENST00000601968.1_Silent_p.T36T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	81					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGCCGGGCACGGGGAAGACGG	0.617																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(106-108)acG>acA		RuvB-like AAA ATPase 2		G		1,3881		0,1,1940	47.0	53.0	51.0		243	-9.9	0.0	19		51	0,8286		0,0,4143	no	coding-synonymous	RUVBL2	NM_006666.1		0,1,6083	AA,AG,GG		0.0,0.0258,0.0082		81/464	49507653	1,12167	1941	4143	6084	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507653G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.243G>A	19.37:g.49507653G>A						RUVBL2_ENST00000595090.1_Silent_p.T81T|RUVBL2_ENST00000601968.1_Silent_p.T36T	p.T36T			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1256	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	81					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.108G>A	CCDS42588.1																																																																																				0.617	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			7	57	0	0	0	1	0	7	57				
USH2A	7399	broad.mit.edu	37	1	215848230	215848230	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215848230G>A	ENST00000307340.3	-	63	13409	c.13023C>T	c.(13021-13023)tgC>tgT	p.C4341C	USH2A_ENST00000366943.2_Silent_p.C4341C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4341	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTGGTGGAGCATCCTCCAC	0.488										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13021-13023)tgC>tgT		Usher syndrome 2A (autosomal recessive, mild)							73.0	73.0	73.0					1																	215848230		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848230G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13023C>T	1.37:g.215848230G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.C4341C	p.C4341C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13409	-			4341			Fibronectin type-III 28.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13023C>T	CCDS31025.1																																																																																				0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	76	0	0	0	1	0	7	76				
TTN	7273	broad.mit.edu	37	2	179641415	179641415	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179641415G>A	ENST00000591111.1	-	28	5400	c.5176C>T	c.(5176-5178)Cta>Tta	p.L1726L	TTN_ENST00000342992.6_Silent_p.L1726L|TTN_ENST00000360870.5_Silent_p.L1726L|TTN_ENST00000359218.5_Silent_p.L1680L|TTN_ENST00000460472.2_Silent_p.L1680L|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Silent_p.L1726L|TTN_ENST00000342175.6_Silent_p.L1680L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12561	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTGTTAGCCTGCATTCA	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5176-5178)Cta>Tta		titin							77.0	69.0	72.0					2																	179641415		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641415G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5176C>T	2.37:g.179641415G>A						TTN_ENST00000342175.6_Silent_p.L1680L|TTN_ENST00000360870.5_Silent_p.L1726L|TTN_ENST00000591111.1_Silent_p.L1726L|TTN_ENST00000460472.2_Silent_p.L1680L|TTN_ENST00000342992.6_Silent_p.L1726L|TTN_ENST00000359218.5_Silent_p.L1680L	p.L1726L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5400	-			1480			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.5176C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	43	0	0	0	1	0	8	43				
ZNF395	55893	broad.mit.edu	37	8	28218608	28218608	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28218608G>A	ENST00000344423.5	-	2	165	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ZNF395_ENST00000523202.1_Missense_Mutation_p.R12W|ZNF395_ENST00000523095.1_Missense_Mutation_p.R12W	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGAGGGACCGCTTTCCAAGG	0.697																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(34-36)Cgg>Tgg		zinc finger protein 395							27.0	31.0	30.0					8																	28218608		2183	4270	6453	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218608G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.34C>T	8.37:g.28218608G>A	ENSP00000340494:p.Arg12Trp					ZNF395_ENST00000523095.1_Missense_Mutation_p.R12W|ZNF395_ENST00000523202.1_Missense_Mutation_p.R12W	p.R12W	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	165	-		Ovarian(32;2.06e-05)	12					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.34C>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287542	0.59976	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185;ENST00000522795;ENST00000517459	T;T;T	0.59638	0.25;0.25;0.25	5.14	4.27	0.50696	.	0.000000	0.64402	D	0.000002	T	0.72740	0.3498	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75416	-0.3325	10	0.87932	D	0	-33.1407	11.2286	0.48899	0.0:0.0:0.6687:0.3312	.	12	Q9H8N7	ZN395_HUMAN	W	12	ENSP00000340494:R12W;ENSP00000429640:R12W;ENSP00000428452:R12W	ENSP00000340494:R12W	R	-	1	2	ZNF395	28274527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.095000	0.50235	1.293000	0.44690	0.655000	0.94253	CGG		0.697	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			10	22	0	0	0	1	0	10	22				
NLRP9	338321	broad.mit.edu	37	19	56223303	56223303	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56223303G>A	ENST00000332836.2	-	8	2733	c.2706C>T	c.(2704-2706)tgC>tgT	p.C902C	CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	902						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGATGTCGTCGCAGCAGGCAC	0.567																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2704-2706)tgC>tgT		NLR family, pyrin domain containing 9							80.0	69.0	73.0					19																	56223303		2202	4298	6500	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223303G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2706C>T	19.37:g.56223303G>A							p.C902C	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	8	2733	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	902					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2706C>T	CCDS12934.1																																																																																				0.567	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		16	19	0	0	0	1	0	16	19				
CGN	57530	broad.mit.edu	37	1	151491123	151491123	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151491123C>T	ENST00000271636.7	+	2	261	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	37	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGACGCCCAGCTAAGGATGCA	0.612																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(127-129)gCt>gTt		cingulin							116.0	109.0	111.0					1																	151491123		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491123C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.128C>T	1.37:g.151491123C>T	ENSP00000271636:p.Ala43Val						p.A43V	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	261	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		37			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.128C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117901	0.94385	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.64260	0.88;-0.09	4.75	4.75	0.60458	.	0.735597	0.13633	N	0.373549	T	0.63010	0.2475	L	0.60455	1.87	0.39419	D	0.96688	D	0.60575	0.988	P	0.54759	0.76	T	0.64854	-0.6309	10	0.59425	D	0.04	-1.3607	13.4429	0.61123	0.0:1.0:0.0:0.0	.	37	Q9P2M7	CING_HUMAN	V	43	ENSP00000410836:A43V;ENSP00000271636:A43V	ENSP00000271636:A43V	A	+	2	0	CGN	149757747	0.301000	0.24444	0.039000	0.18376	0.986000	0.74619	3.592000	0.53993	2.643000	0.89663	0.655000	0.94253	GCT		0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		21	35	0	0	0	1	0	21	35				
AP1AR	55435	broad.mit.edu	37	4	113189305	113189305	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113189305A>C	ENST00000274000.5	+	10	1004	c.649A>C	c.(649-651)Aat>Cat	p.N217H	AP1AR_ENST00000309703.6_Missense_Mutation_p.N184H	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	217				N -> D (in Ref. 2; BAG37704). {ECO:0000305}.	cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						CATAGGAATGAATAGAATGCT	0.328																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(649-651)Aat>Cat		adaptor-related protein complex 1 associated regulatory protein							48.0	50.0	49.0					4																	113189305		2201	4300	6501	SO:0001583	missense	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189305A>C	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.649A>C	4.37:g.113189305A>C	ENSP00000274000:p.Asn217His					AP1AR_ENST00000309703.6_Missense_Mutation_p.N184H	p.N217H	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			10	1004	+			217					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Missense_Mutation	SNP	ENST00000274000.5	37	c.649A>C	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624530	0.66901	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	.	0.049715	0.85682	D	0.000000	T	0.59528	0.2200	L	0.60455	1.87	0.46981	D	0.999278	P;D	0.56035	0.696;0.974	P;P	0.56700	0.598;0.804	T	0.63712	-0.6575	10	0.87932	D	0	-26.9201	14.0172	0.64531	1.0:0.0:0.0:0.0	.	184;217	Q63HQ0-2;Q63HQ0	.;AP1AR_HUMAN	H	217;184	ENSP00000274000:N217H;ENSP00000309023:N184H	ENSP00000274000:N217H	N	+	1	0	AP1AR	113408754	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.760000	0.74939	2.048000	0.60808	0.528000	0.53228	AAT		0.328	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		15	24	0	0	0	1	0	15	24				
HERC2	8924	broad.mit.edu	37	15	28510859	28510859	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28510859G>A	ENST00000261609.7	-	14	1883	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCGGAATGGCCTCGTCCTC	0.572																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1774-1776)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							154.0	109.0	125.0					15																	28510859		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28510859G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1775C>T	15.37:g.28510859G>A	ENSP00000261609:p.Ala592Val						p.A592V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	14	1883	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	592						Missense_Mutation	SNP	ENST00000261609.7	37	c.1775C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479818	0.44044	.	.	ENSG00000128731	ENST00000261609	D	0.84944	-1.92	5.62	4.68	0.58851	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.105153	0.64402	N	0.000007	T	0.75391	0.3843	L	0.28014	0.82	0.33820	D	0.628962	B	0.06786	0.001	B	0.10450	0.005	T	0.73600	-0.3931	10	0.17832	T	0.49	.	12.8752	0.57986	0.0826:0.0:0.9174:0.0	.	592	O95714	HERC2_HUMAN	V	592	ENSP00000261609:A592V	ENSP00000261609:A592V	A	-	2	0	HERC2	26184454	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.538000	0.82048	1.441000	0.47550	0.650000	0.86243	GCC		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		18	18	0	0	0	1	0	18	18				
APBB1	322	broad.mit.edu	37	11	6432426	6432426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6432426C>T	ENST00000609360.1	-	2	251	c.152G>A	c.(151-153)cGc>cAc	p.R51H	APBB1_ENST00000389906.2_Missense_Mutation_p.R51H|APBB1_ENST00000299402.6_Missense_Mutation_p.R51H|APBB1_ENST00000311051.3_Missense_Mutation_p.R51H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	51					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CATGGCGCTGCGCAGGTCCTT	0.697																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(151-153)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							71.0	77.0	75.0					11																	6432426		2201	4295	6496	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432426C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.152G>A	11.37:g.6432426C>T	ENSP00000477213:p.Arg51His					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.R51H|APBB1_ENST00000299402.6_Missense_Mutation_p.R51H	p.R51H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	251	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	51					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.152G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.148022|3.148022	0.57151|0.57151	.|.	.|.	ENSG00000166313|ENSG00000166313	ENST00000539758|ENST00000299402;ENST00000311051;ENST00000389906	.|T;T;T	.|0.14266	.|2.52;2.52;2.52	4.21|4.21	3.27|3.27	0.37495|0.37495	.|.	.|0.121414	.|0.33813	.|N	.|0.004522	.|T	.|0.07007	.|0.0178	N|N	0.19112|0.19112	0.55|0.55	0.26815|0.26815	N|N	0.968903|0.968903	.|B	.|0.32051	.|0.354	.|B	.|0.22753	.|0.041	.|T	.|0.20075	.|-1.0286	.|10	.|0.62326	.|D	.|0.03	.|-13.5354	5.9468|5.9468	0.19223|0.19223	0.0:0.7749:0.0:0.2251|0.0:0.7749:0.0:0.2251	.|.	.|51	.|O00213-2	.|.	.|H	-1|51	.|ENSP00000299402:R51H;ENSP00000311912:R51H;ENSP00000374556:R51H	.|ENSP00000299402:R51H	.|R	-|-	.|2	.|0	APBB1|APBB1	6389002|6389002	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	0.538000|0.538000	0.23160|0.23160	2.074000|2.074000	0.62210|0.62210	0.393000|0.393000	0.25936|0.25936	.|CGC		0.697	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		42	64	0	0	0	1	0	42	64				
ZNF205	7755	broad.mit.edu	37	16	3165366	3165366	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3165366G>A	ENST00000382192.3	+	3	273	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ZNF205-AS1_ENST00000576943.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R23H|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	23					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GTTCCAGATCGTGGACATCCT	0.582																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(67-69)cGt>cAt		zinc finger protein 205							79.0	75.0	76.0					16																	3165366		2197	4300	6497	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3165366G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.68G>A	16.37:g.3165366G>A	ENSP00000371627:p.Arg23His					ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R23H	p.R23H	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			3	273	+			23					A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.68G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	7.217	0.596651	0.13875	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.47528	3.12;3.12;0.84;3.16	4.52	-4.92	0.03075	.	1.477610	0.04578	N	0.394489	T	0.17066	0.0410	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08953	-1.0697	10	0.23891	T	0.37	-0.9406	3.4317	0.07430	0.2511:0.4646:0.1695:0.1148	.	23	O95201	ZN205_HUMAN	H	23	ENSP00000371627:R23H;ENSP00000219091:R23H;ENSP00000394360:R23H;ENSP00000403306:R23H	ENSP00000219091:R23H	R	+	2	0	ZNF205	3105367	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.816000	0.04477	-0.731000	0.04862	-0.367000	0.07326	CGT		0.582	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		26	38	0	0	0	1	0	26	38				
SGOL1	151648	broad.mit.edu	37	3	20216081	20216081	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20216081G>A	ENST00000263753.4	-	6	1081	c.942C>T	c.(940-942)agC>agT	p.S314S	SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000412997.1_Silent_p.S314S|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Silent_p.S314S|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000421451.1_Silent_p.S314S	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	314					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ttttattttcgcttttattct	0.303																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(940-942)agC>agT		shugoshin-like 1 (S. pombe)							48.0	44.0	45.0					3																	20216081		2203	4297	6500	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20216081G>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.942C>T	3.37:g.20216081G>A						SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000263753.4_Silent_p.S314S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Silent_p.S314S|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.S314S|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000442720.1_Intron	p.S314S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1293	-			314					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.942C>T	CCDS33716.1																																																																																				0.303	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		19	29	0	0	0	1	0	19	29				
NVL	4931	broad.mit.edu	37	1	224482013	224482013	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:224482013G>A	ENST00000281701.6	-	12	1540	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	NVL_ENST00000361463.3_Silent_p.D321D|NVL_ENST00000482491.1_Silent_p.D151D|NVL_ENST00000469075.1_Silent_p.D336D|NVL_ENST00000340871.4_Silent_p.D238D|NVL_ENST00000391875.2_Silent_p.D321D	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	427						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATATTTCTCGGTCGAACCTTC	0.448																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(1279-1281)gaC>gaT		nuclear VCP-like							101.0	97.0	98.0					1																	224482013		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224482013G>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1281C>T	1.37:g.224482013G>A						NVL_ENST00000482491.1_Silent_p.D151D|NVL_ENST00000340871.4_Silent_p.D238D|NVL_ENST00000361463.3_Silent_p.D321D|NVL_ENST00000469075.1_Silent_p.D336D|NVL_ENST00000391875.2_Silent_p.D321D	p.D427D	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	12	1540	-			427					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1281C>T	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451918	0.26074	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.65	1.55	0.23275	.	.	.	.	.	T	0.55273	0.1910	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44298	-0.9337	4	.	.	.	-17.6266	7.7699	0.29001	0.2517:0.1075:0.6408:0.0	.	.	.	.	S	310	.	.	P	-	1	0	NVL	222548636	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.057000	0.41365	0.097000	0.17492	0.491000	0.48974	CCG		0.448	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		24	38	0	0	0	1	0	24	38				
TENC1	23371	broad.mit.edu	37	12	53456223	53456223	+	Missense_Mutation	SNP	G	G	A	rs142568866	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53456223G>A	ENST00000314250.6	+	24	4021	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	TENC1_ENST00000451358.1_Missense_Mutation_p.R1234H|TENC1_ENST00000379902.3_Missense_Mutation_p.R1120H|TENC1_ENST00000552570.1_Missense_Mutation_p.R1244H|TENC1_ENST00000549700.1_Missense_Mutation_p.R1179H|TENC1_ENST00000314276.3_Missense_Mutation_p.R1254H|TENC1_ENST00000546602.1_Missense_Mutation_p.R1147H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1244	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGCTGCCTGCGCATTCCCAGC	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		19429	0.0		0.0	False		,,,				2504	0.0041					ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(3730-3732)cGc>cAc		tensin like C1 domain containing phosphatase (tensin 2)		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	151.0	118.0	129.0		3761,3731,3359	0.6	0.9	12	dbSNP_134	129	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	29,29,29	0,12,6491	AA,AG,GG		0.1047,0.0681,0.0923	probably-damaging,probably-damaging,probably-damaging	1254/1420,1244/1410,1120/1286	53456223	12,12994	2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53456223G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3731G>A	12.37:g.53456223G>A	ENSP00000319684:p.Arg1244His					TENC1_ENST00000451358.1_Missense_Mutation_p.R1234H|TENC1_ENST00000546602.1_Missense_Mutation_p.R1147H|TENC1_ENST00000549700.1_Missense_Mutation_p.R1179H|TENC1_ENST00000552570.1_Missense_Mutation_p.R1244H|TENC1_ENST00000379902.3_Missense_Mutation_p.R1120H|TENC1_ENST00000314276.3_Missense_Mutation_p.R1254H	p.R1244H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			24	4021	+			1244			SH2.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.3731G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	4.339	0.062420	0.08388	6.81E-4	0.001047	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.67	0.609	0.17575	SH2 motif (2);	0.518222	0.19859	N	0.104469	T	0.51534	0.1680	L	0.59967	1.855	0.19775	N	0.999958	B;B;B;B	0.11235	0.001;0.002;0.002;0.004	B;B;B;B	0.13407	0.009;0.002;0.002;0.009	T	0.42682	-0.9437	10	0.42905	T	0.14	.	5.7573	0.18180	0.316:0.0:0.5557:0.1283	.	1244;1147;1244;1254	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	H	1120;1254;1244;1234;1147;1244;1179	ENSP00000369232:R1120H;ENSP00000319756:R1254H;ENSP00000319684:R1244H;ENSP00000393362:R1234H;ENSP00000449363:R1147H;ENSP00000447021:R1244H;ENSP00000449361:R1179H	ENSP00000319684:R1244H	R	+	2	0	TENC1	51742490	0.000000	0.05858	0.916000	0.36221	0.358000	0.29455	0.263000	0.18478	-0.186000	0.10533	-1.598000	0.00824	CGC		0.632	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		4	81	0	0	0	1	0	4	81				
AKR1CL1	340811	broad.mit.edu	37	10	5204860	5204860	+	Missense_Mutation	SNP	C	C	T	rs142723764		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5204860C>T	ENST00000334314.3	-	2	293	c.217G>A	c.(217-219)Gct>Act	p.A73T	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	73						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACCATCAGCGATCTTCTCC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19487	0.001		0.0	False		,,,				2504	0.0				Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(217-219)Gct>Act		aldo-keto reductase family 1, member C-like 1		C		1,4405	2.1+/-5.4	0,1,2202	204.0	188.0	194.0			0.1	0.0	10	dbSNP_134	194	5,8595	4.3+/-15.6	0,5,4295	no	intergenic				0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461			5204860	6,13000	2203	4300	6503	SO:0001583	missense	340811							g.chr10:5204860C>T			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.217G>A	10.37:g.5204860C>T	ENSP00000334626:p.Ala73Thr						p.A73T							2	293	-								A6NF66|Q6ZN81	Missense_Mutation	SNP	ENST00000334314.3	37	c.217G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.48	1.361526	0.24684	2.27E-4	5.81E-4	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.51325	0.71;0.71	3.33	0.0801	0.14419	.	0.000000	0.46145	U	0.000315	T	0.38772	0.1053	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27872	-1.0061	7	0.49607	T	0.09	.	4.8327	0.13449	0.1657:0.626:0.0:0.2083	.	.	.	.	T	73	ENSP00000417935:A73T;ENSP00000334626:A73T	ENSP00000334626:A73T	A	-	1	0	AKR1CL1	5194860	0.018000	0.18449	0.001000	0.08648	0.011000	0.07611	0.866000	0.27954	-0.252000	0.09528	-0.680000	0.03767	GCT		0.443	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		4	141	0	0	0	1	0	4	141				
ZNF516	9658	broad.mit.edu	37	18	74091286	74091286	+	Silent	SNP	G	G	A	rs554719475		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74091286G>A	ENST00000443185.2	-	4	3101	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	928					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TAGGGGTGGCGCTCCTGCTGA	0.726													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12889	0.0		0.0	False		,,,				2504	0.0					ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2782-2784)agC>agT		zinc finger protein 516							13.0	17.0	16.0					18																	74091286		1796	3900	5696	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091286G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2784C>T	18.37:g.74091286G>A						ZNF516_ENST00000524431.2_5'UTR	p.S928S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3101	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	928						Silent	SNP	ENST00000443185.2	37	c.2784C>T																																																																																					0.726	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		19	16	0	0	0	1	0	19	16				
ZNF561	93134	broad.mit.edu	37	19	9721558	9721558	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9721558T>A	ENST00000302851.3	-	6	1142	c.779A>T	c.(778-780)aAa>aTa	p.K260I	ZNF561_ENST00000424629.1_Missense_Mutation_p.K191I|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124I|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGTGAAGGATTTCCCACATTT	0.373																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(778-780)aAa>aTa		zinc finger protein 561							77.0	77.0	77.0					19																	9721558		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721558T>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.779A>T	19.37:g.9721558T>A	ENSP00000303915:p.Lys260Ile					ZNF561_ENST00000354661.4_Missense_Mutation_p.K124I|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191I|ZNF561_ENST00000326044.5_3'UTR	p.K260I	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1142	-			260					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.779A>T	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046376	0.75846	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.21932	2.8;2.96;2.84;1.98	1.42	1.42	0.22433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51839	0.1698	H	0.94964	3.605	0.30712	N	0.749127	D	0.65815	0.995	D	0.75484	0.986	T	0.54070	-0.8348	9	0.87932	D	0	.	6.9127	0.24344	0.0:0.0:0.0:1.0	.	260	Q8N587	ZN561_HUMAN	I	191;260;124;266	ENSP00000393074:K191I;ENSP00000303915:K260I;ENSP00000346687:K124I;ENSP00000392013:K266I	ENSP00000303915:K260I	K	-	2	0	ZNF561	9582558	0.030000	0.19436	0.011000	0.14972	0.733000	0.41908	1.821000	0.39041	0.911000	0.36747	0.248000	0.18094	AAA		0.373	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		14	60	0	0	0	1	0	14	60				
FAM166A	401565	broad.mit.edu	37	9	140139876	140139876	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140139876C>T	ENST00000344774.4	-	3	459	c.405G>A	c.(403-405)ccG>ccA	p.P135P	FAM166A_ENST00000388932.2_Silent_p.P135P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	135						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						ACGGAGGGTGCGGGGTGTCGG	0.647																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(403-405)ccG>ccA		family with sequence similarity 166, member A							76.0	88.0	83.0					9																	140139876		2203	4300	6503	SO:0001819	synonymous_variant	401565							g.chr9:140139876C>T	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.405G>A	9.37:g.140139876C>T						FAM166A_ENST00000388932.2_Silent_p.P135P	p.P135P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	459	-			135					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.405G>A	CCDS35186.1																																																																																				0.647	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		26	47	0	0	0	1	0	26	47				
TAF5L	27097	broad.mit.edu	37	1	229730363	229730363	+	Missense_Mutation	SNP	G	G	A	rs377262959		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229730363G>A	ENST00000366676.1	-	4	1450	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	TAF5L_ENST00000258281.2_Missense_Mutation_p.A484V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	484					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAGCAGACGCCAAGTACTT	0.587																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1450-1452)gCg>gTg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		1451	6.0	1.0	1		75	0,8600		0,0,4300	no	missense	TAF5L	NM_014409.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	484/590	229730363	1,13005	2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730363G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1451C>T	1.37:g.229730363G>A	ENSP00000355636:p.Ala484Val					TAF5L_ENST00000366676.1_Missense_Mutation_p.A484V	p.A484V	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1616	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	484					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1451C>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009827	0.54361	2.27E-4	0.0	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.66280	-0.2;-0.2	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.095221	0.64402	N	0.000001	T	0.50171	0.1600	L	0.31065	0.9	0.80722	D	1	P	0.38504	0.634	B	0.27076	0.076	T	0.51325	-0.8720	10	0.41790	T	0.15	-10.3782	20.4238	0.99064	0.0:0.0:1.0:0.0	.	484	O75529	TAF5L_HUMAN	V	484	ENSP00000355636:A484V;ENSP00000258281:A484V	ENSP00000258281:A484V	A	-	2	0	TAF5L	227796986	1.000000	0.71417	0.972000	0.41901	0.187000	0.23431	7.969000	0.87988	2.828000	0.97474	0.655000	0.94253	GCG		0.587	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		33	57	0	0	0	1	0	33	57				
MYBPC2	4606	broad.mit.edu	37	19	50962223	50962223	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50962223G>A	ENST00000357701.5	+	22	2606	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	852	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R852H(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCTACATCCGCAAAGTGGGC	0.697																																						ENST00000357701.5																			1	Substitution - Missense(1)	p.R852H(1)	kidney(1)	breast(1)	1						c.(2554-2556)cGc>cAc		myosin binding protein C, fast type							21.0	27.0	25.0					19																	50962223		2014	4221	6235	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962223G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2555G>A	19.37:g.50962223G>A	ENSP00000350332:p.Arg852His						p.R852H	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	22	2606	+		all_neural(266;0.057)	852			Ig-like C2-type 6.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2555G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121337	0.56613	.	.	ENSG00000086967	ENST00000357701	T	0.66995	-0.24	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.505595	0.13386	U	0.391790	T	0.66819	0.2828	M	0.88241	2.94	0.31567	N	0.6568	P	0.34800	0.469	B	0.31686	0.134	T	0.70766	-0.4783	10	0.36615	T	0.2	.	6.6699	0.23062	0.2134:0.0:0.7866:0.0	.	852	Q14324	MYPC2_HUMAN	H	852	ENSP00000350332:R852H	ENSP00000350332:R852H	R	+	2	0	MYBPC2	55654035	0.246000	0.23909	0.993000	0.49108	0.609000	0.37215	0.754000	0.26390	1.967000	0.57214	0.457000	0.33378	CGC		0.697	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	7	0	0	0	1	0	7	7				
CLDN18	51208	broad.mit.edu	37	3	137717905	137717905	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:137717905C>T	ENST00000343735.4	+	1	329	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	65					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						AGTGCCGGGGCTACTTCACCC	0.607																																						ENST00000343735.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(193-195)ggC>ggT		claudin 18							62.0	63.0	63.0					3																	137717905		2203	4300	6503	SO:0001819	synonymous_variant	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717905C>T	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.195C>T	3.37:g.137717905C>T							p.G65G	NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN			1	329	+			65					A5PL21|Q96PH4	Silent	SNP	ENST00000343735.4	37	c.195C>T	CCDS33862.1																																																																																				0.607	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		21	29	0	0	0	1	0	21	29				
AREL1	9870	broad.mit.edu	37	14	75140771	75140771	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75140771C>T	ENST00000356357.4	-	9	1639	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	375					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTGTAAAGGCGCCAGGGGAT	0.438																																						ENST00000356357.4																			0											c.(1123-1125)cGc>cAc		apoptosis resistant E3 ubiquitin protein ligase 1							73.0	74.0	74.0					14																	75140771		1885	4125	6010	SO:0001583	missense	9870							g.chr14:75140771C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1124G>A	14.37:g.75140771C>T	ENSP00000348714:p.Arg375His					AREL1_ENST00000557401.1_5'UTR	p.R375H	NM_001039479.1	NP_001034568.1					9	1639	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1124G>A	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.271118|4.271118	0.80469|0.80469	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000490805|ENST00000356357;ENST00000543377;ENST00000556202	.|T;T	.|0.53206	.|0.63;0.63	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.091942	.|0.85682	.|D	.|0.000000	T|T	0.63462|0.63462	0.2513|0.2513	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|P;D	.|0.65874	.|0.579;0.939	T|T	0.64681|0.64681	-0.6350|-0.6350	5|10	.|0.62326	.|D	.|0.03	.|.	16.9869|16.9869	0.86342|0.86342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|375;375	.|O15033-2;O15033	.|.;K0317_HUMAN	T|H	109|375;214;214	.|ENSP00000348714:R375H;ENSP00000452101:R214H	.|ENSP00000348714:R375H	A|R	-|-	1|2	0|0	KIAA0317|KIAA0317	74210524|74210524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.640000|5.640000	0.67875|0.67875	2.673000|2.673000	0.90976|0.90976	0.585000|0.585000	0.79938|0.79938	GCC|CGC		0.438	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	16	0	0	0	1	0	10	16				
ASRGL1	80150	broad.mit.edu	37	11	62156640	62156640	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62156640G>A	ENST00000415229.2	+	5	742	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000535727.1_Missense_Mutation_p.C48Y|ASRGL1_ENST00000301776.5_Missense_Mutation_p.C176Y	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	176					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GCCTTGGACTGCAAAGGGAAT	0.483																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(526-528)tGc>tAc		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						152.0	141.0	144.0					11																	62156640		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156640G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.527G>A	11.37:g.62156640G>A	ENSP00000400057:p.Cys176Tyr					ASRGL1_ENST00000301776.5_Missense_Mutation_p.C176Y|ASRGL1_ENST00000535727.1_Missense_Mutation_p.C48Y	p.C176Y	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			5	742	+			176					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.527G>A	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	.	9.470	1.095460	0.20471	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.87103	-2.21;-2.21;-2.21	5.2	-0.822	0.10819	.	0.785452	0.12980	N	0.423325	D	0.82733	0.5101	M	0.66939	2.045	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.72564	-0.4255	10	0.56958	D	0.05	-3.6439	6.8538	0.24030	0.076:0.3514:0.4646:0.108	.	176	Q7L266	ASGL1_HUMAN	Y	176;48;176	ENSP00000400057:C176Y;ENSP00000443284:C48Y;ENSP00000301776:C176Y	ENSP00000301776:C176Y	C	+	2	0	ASRGL1	61913216	0.000000	0.05858	0.493000	0.27502	0.437000	0.31866	-0.169000	0.09911	-0.089000	0.12484	-2.175000	0.00321	TGC		0.483	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		57	77	0	0	0	1	0	57	77				
LPAR3	23566	broad.mit.edu	37	1	85279775	85279775	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85279775C>A	ENST00000440886.1	-	2	854	c.816G>T	c.(814-816)caG>caT	p.Q272H	LPAR3_ENST00000370611.3_Missense_Mutation_p.Q272H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	272					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TTTTCACATGCTGCACGCCAC	0.587																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(814-816)caG>caT		lysophosphatidic acid receptor 3							95.0	88.0	90.0					1																	85279775		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279775C>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.816G>T	1.37:g.85279775C>A	ENSP00000395389:p.Gln272His					LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.Q272H	p.Q272H			Q9UBY5	LPAR3_HUMAN			2	854	-			272					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.816G>T	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784164	0.70222	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.72167	-0.63;-0.63	5.65	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.187888	0.47852	D	0.000206	T	0.61776	0.2374	L	0.27975	0.815	0.34812	D	0.737762	D	0.67145	0.996	D	0.64877	0.93	T	0.66740	-0.5847	10	0.51188	T	0.08	.	11.6325	0.51185	0.0:0.8436:0.0:0.1564	.	272	Q9UBY5	LPAR3_HUMAN	H	272	ENSP00000395389:Q272H;ENSP00000359643:Q272H	ENSP00000359643:Q272H	Q	-	3	2	LPAR3	85052363	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.030000	0.57260	0.597000	0.29811	0.650000	0.86243	CAG		0.587	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		23	26	1	0	2.44723e-14	1	2.66926e-14	23	26				
SHISA3	152573	broad.mit.edu	37	4	42403327	42403327	+	Silent	SNP	G	G	A	rs368874056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:42403327G>A	ENST00000319234.4	+	2	794	c.576G>A	c.(574-576)ccG>ccA	p.P192P		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	192	Poly-Pro.				multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TGCCCTCACCGCCCCCGCCAT	0.662																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(574-576)ccG>ccA		shisa family member 3		G		1,4405	2.1+/-5.4	0,1,2202	44.0	44.0	44.0		576	-10.3	0.0	4		44	0,8600		0,0,4300	no	coding-synonymous	SHISA3	NM_001080505.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		192/239	42403327	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403327G>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.576G>A	4.37:g.42403327G>A							p.P192P	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	794	+			192			Poly-Pro.		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.576G>A	CCDS33979.1																																																																																				0.662	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		18	22	0	0	0	1	0	18	22				
HK1	3098	broad.mit.edu	37	10	71151991	71151991	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71151991G>A	ENST00000359426.6	+	15	2250	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	HK1_ENST00000404387.2_Missense_Mutation_p.G720R|HK1_ENST00000448642.2_Missense_Mutation_p.G751R|HK1_ENST00000360289.2_Missense_Mutation_p.G704R|HK1_ENST00000298649.3_Missense_Mutation_p.G715R	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	716	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGGGGACAACGGGTGTCTGGA	0.547											OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2251-2253)Ggg>Agg		hexokinase 1							102.0	92.0	96.0					10																	71151991		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71151991G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2146G>A	10.37:g.71151991G>A	ENSP00000352398:p.Gly716Arg		OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1127	HK1_ENST00000404387.2_Missense_Mutation_p.G720R|HK1_ENST00000298649.3_Missense_Mutation_p.G715R|HK1_ENST00000360289.2_Missense_Mutation_p.G704R|HK1_ENST00000359426.6_Missense_Mutation_p.G716R	p.G751R			P19367	HXK1_HUMAN			20	2640	+			716			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.2251G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598687	0.87055	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.51	4.51	0.55191	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.97	D;D;D;D;B	0.85130	0.995;0.997;0.993;0.987;0.304	D	0.99232	1.0882	10	0.87932	D	0	-26.0244	17.4058	0.87473	0.0:0.0:1.0:0.0	.	716;715;751;720;704	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	R	704;751;720;715;716;716	ENSP00000353433:G704R;ENSP00000402103:G751R;ENSP00000384774:G720R;ENSP00000298649:G715R;ENSP00000352398:G716R	ENSP00000298649:G715R	G	+	1	0	HK1	70821997	1.000000	0.71417	0.968000	0.41197	0.758000	0.43043	9.657000	0.98554	2.355000	0.79922	0.650000	0.86243	GGG		0.547	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		22	27	0	0	0	1	0	22	27				
CFAP43	80217	broad.mit.edu	37	10	105945830	105945830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:105945830G>A	ENST00000278064.2	-	15	2030	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.Q639*|WDR96_ENST00000357060.3_Nonsense_Mutation_p.Q638*																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTCCATACTGTCTGCTTTGT	0.373																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1912-1914)Cag>Tag		WD repeat domain 96							164.0	161.0	162.0					10																	105945830		2203	4300	6503	SO:0001587	stop_gained	80217							g.chr10:105945830G>A																												ENST00000278064.2:c.1705C>T	10.37:g.105945830G>A	ENSP00000278064:p.Gln569*					WDR96_ENST00000278064.2_Nonsense_Mutation_p.Q569*|WDR96_ENST00000428666.1_Nonsense_Mutation_p.Q639*	p.Q638*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			15	2027	-			638						Nonsense_Mutation	SNP	ENST00000278064.2	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.724912	0.98929	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	.	.	.	5.95	5.05	0.67936	.	0.909508	0.09074	N	0.852427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0893	0.48106	0.0843:0.0:0.9157:0.0	.	.	.	.	X	638;639;569	.	.	Q	-	1	0	WDR96	105935820	0.925000	0.31364	0.490000	0.27465	0.475000	0.33008	5.263000	0.65507	1.535000	0.49220	-0.136000	0.14681	CAG		0.373	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			14	76	0	0	0	1	0	14	76				
SYNGAP1	8831	broad.mit.edu	37	6	33411028	33411028	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33411028C>T	ENST00000418600.2	+	15	2800	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T900M|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T841M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	900					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCATCCATCACGGCGGCTGGC	0.667																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2698-2700)aCg>aTg		synaptic Ras GTPase activating protein 1							65.0	65.0	65.0					6																	33411028		2201	4299	6500	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411028C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2699C>T	6.37:g.33411028C>T	ENSP00000403636:p.Thr900Met					SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T841M|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T900M|SYNGAP1_ENST00000496374.1_3'UTR	p.T900M	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2800	+			900					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.2699C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632715	0.29068	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.11277	2.79;2.79;2.79	4.45	4.45	0.53987	.	0.407546	0.26166	N	0.025954	T	0.01976	0.0062	N	0.11064	0.09	0.28100	N	0.931436	B;B;B	0.21753	0.06;0.049;0.049	B;B;B	0.16722	0.016;0.009;0.009	T	0.39820	-0.9595	10	0.42905	T	0.14	.	8.245	0.31682	0.0:0.8942:0.0:0.1058	.	900;900;900	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	M	900;900;886;841	ENSP00000293748:T900M;ENSP00000403636:T900M;ENSP00000412475:T841M	ENSP00000293748:T900M	T	+	2	0	SYNGAP1	33519006	0.887000	0.30362	0.929000	0.37066	0.975000	0.68041	1.498000	0.35660	2.299000	0.77371	0.591000	0.81541	ACG		0.667	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		22	41	0	0	0	1	0	22	41				
TPT1	7178	broad.mit.edu	37	13	45913709	45913709	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:45913709G>A	ENST00000530705.1	-	4	622	c.322C>T	c.(322-324)Cca>Tca	p.P108S	TPT1_ENST00000379056.1_Missense_Mutation_p.P74S|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000379055.1_Missense_Mutation_p.P74S|TPT1_ENST00000529421.1_5'UTR|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.P108S|TPT1-AS1_ENST00000520622.1_RNA|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|SNORA31_ENST00000362607.1_RNA|TPT1_ENST00000379060.4_Missense_Mutation_p.P96S|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	108					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		ACTCTTTCTGGTCTCTGTTCT	0.308																																						ENST00000379056.1																			0				lung(1)	1						c.(220-222)Cca>Tca		tumor protein, translationally-controlled 1							102.0	103.0	102.0					13																	45913709		2203	4299	6502	SO:0001583	missense	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45913709G>A	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.322C>T	13.37:g.45913709G>A	ENSP00000431872:p.Pro108Ser					TPT1_ENST00000530705.1_Missense_Mutation_p.P108S|TPT1_ENST00000379055.1_Missense_Mutation_p.P74S|TPT1_ENST00000379060.4_Missense_Mutation_p.P96S|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000309246.5_Missense_Mutation_p.P108S	p.P74S			P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	3	390	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	108					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Missense_Mutation	SNP	ENST00000530705.1	37	c.220C>T	CCDS9397.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.024496	0.75390	.	.	ENSG00000133112	ENST00000379056;ENST00000530705;ENST00000379060;ENST00000379055;ENST00000309246;ENST00000527226	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.79	4.79	0.61399	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.84433	2.695	0.80722	D	1	P	0.34934	0.476	B	0.43701	0.428	T	0.65529	-0.6146	10	0.59425	D	0.04	.	17.2186	0.86951	0.0:0.0:1.0:0.0	.	108	P13693	TCTP_HUMAN	S	74;108;96;74;108;107	ENSP00000368345:P74S;ENSP00000431872:P108S;ENSP00000368350:P96S;ENSP00000368344:P74S;ENSP00000339051:P108S;ENSP00000433738:P107S	ENSP00000339051:P108S	P	-	1	0	TPT1	44811709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.177000	0.94849	2.382000	0.81193	0.655000	0.94253	CCA		0.308	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			25	96	0	0	0	1	0	25	96				
PCSK5	5125	broad.mit.edu	37	9	78942929	78942929	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:78942929C>T	ENST00000545128.1	+	32	4801	c.4263C>T	c.(4261-4263)tgC>tgT	p.C1421C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1421	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACAGATTGCCACAAGTCCT	0.587																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4261-4263)tgC>tgT		proprotein convertase subtilisin/kexin type 5							304.0	262.0	275.0					9																	78942929		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78942929C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4263C>T	9.37:g.78942929C>T							p.C1421C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4801	+			670					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4263C>T	CCDS55320.1																																																																																				0.587	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				35	74	0	0	0	1	0	35	74				
PLXNA1	5361	broad.mit.edu	37	3	126740951	126740951	+	Silent	SNP	G	G	A	rs371281283		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126740951G>A	ENST00000393409.2	+	21	4062	c.4062G>A	c.(4060-4062)tcG>tcA	p.S1354S	PLXNA1_ENST00000251772.4_Silent_p.S1331S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1354					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGAGAAGTCGCTGACACTGT	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3991-3993)tcG>tcA		plexin A1		G		1,4405	2.1+/-5.4	0,1,2202	68.0	54.0	59.0		4062	-6.7	0.1	3		59	0,8600		0,0,4300	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1354/1897	126740951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126740951G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4062G>A	3.37:g.126740951G>A						PLXNA1_ENST00000393409.2_Silent_p.S1354S	p.S1331S			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4062	+			1354						Silent	SNP	ENST00000393409.2	37	c.3993G>A	CCDS33847.2																																																																																				0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		8	13	0	0	0	1	0	8	13				
ACSL6	23305	broad.mit.edu	37	5	131312359	131312359	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131312359G>A	ENST00000379240.1	-	10	1050	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ACSL6_ENST00000543479.1_Silent_p.G299G|ACSL6_ENST00000379246.1_Silent_p.G310G|ACSL6_ENST00000357096.1_Silent_p.G264G|ACSL6_ENST00000379249.3_Silent_p.G299G|ACSL6_ENST00000379255.1_Silent_p.G264G|ACSL6_ENST00000296869.4_Silent_p.G324G|ACSL6_ENST00000379272.2_Silent_p.G314G|ACSL6_ENST00000379264.2_Silent_p.G324G|ACSL6_ENST00000431707.1_Silent_p.G279G|ACSL6_ENST00000379244.1_Silent_p.G299G|ACSL6_ENST00000544770.1_Silent_p.G208G			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	299					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTCAGAAAGCCTGAGAAAT	0.418																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(970-972)ggC>ggT		acyl-CoA synthetase long-chain family member 6							66.0	71.0	69.0					5																	131312359		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131312359G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.897C>T	5.37:g.131312359G>A						ACSL6_ENST00000379246.1_Silent_p.G310G|ACSL6_ENST00000379272.2_Silent_p.G314G|ACSL6_ENST00000379244.1_Silent_p.G299G|ACSL6_ENST00000543479.1_Silent_p.G299G|ACSL6_ENST00000544770.1_Silent_p.G208G|ACSL6_ENST00000379255.1_Silent_p.G264G|ACSL6_ENST00000431707.1_Silent_p.G279G|ACSL6_ENST00000379249.3_Silent_p.G299G|ACSL6_ENST00000379240.1_Silent_p.G299G|ACSL6_ENST00000296869.4_Silent_p.G324G|ACSL6_ENST00000357096.1_Silent_p.G264G	p.G324G	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1080	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	299					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.972C>T																																																																																					0.418	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		31	21	0	0	0	1	0	31	21				
HYDIN	54768	broad.mit.edu	37	16	70954766	70954766	+	Missense_Mutation	SNP	G	G	A	rs368364639		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70954766G>A	ENST00000393567.2	-	46	7663	c.7513C>T	c.(7513-7515)Cgc>Tgc	p.R2505C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2505					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)				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)				CGGCCCCTGCGCCCACCCAAG	0.687																																						ENST00000393567.2																			0				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						c.(7513-7515)Cgc>Tgc		HYDIN, axonemal central pair apparatus protein		G	CYS/ARG	0,3856		0,0,1928	16.0	17.0	16.0		7510	5.6	0.7	16		16	1,8209		0,1,4104	no	missense	HYDIN	NM_032821.2	180	0,1,6032	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	2504/5121	70954766	1,12065	1928	4105	6033	SO:0001583	missense	54768							g.chr16:70954766G>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.7513C>T	16.37:g.70954766G>A	ENSP00000377197:p.Arg2505Cys						p.R2505C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			46	7663	-		Ovarian(137;0.0654)	2505					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.7513C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760501	0.69763	0.0	1.22E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01159	5.25	5.59	5.59	0.84812	.	0.000000	0.33834	U	0.004514	T	0.04227	0.0117	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55140	-0.8187	10	0.66056	D	0.02	.	17.7205	0.88350	0.0:0.0:1.0:0.0	.	2504	F8WD23	.	C	2505;2504	ENSP00000377197:R2505C	ENSP00000313052:R2504C	R	-	1	0	HYDIN	69512267	0.224000	0.23674	0.675000	0.29917	0.768000	0.43524	1.986000	0.40677	2.790000	0.95986	0.609000	0.83330	CGC		0.687	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	9	0	0	0	1	0	3	9				
RBM14	10432	broad.mit.edu	37	11	66393086	66393086	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66393086G>A	ENST00000310137.4	+	2	1878	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	580					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGCGTACCCGCCTCTCCCCA	0.667																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1738-1740)cGc>cAc		RNA binding motif protein 14							27.0	29.0	28.0					11																	66393086		2182	4262	6444	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66393086G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1739G>A	11.37:g.66393086G>A	ENSP00000311747:p.Arg580His					RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	p.R580H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1878	+			580					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1739G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998001	0.35226	.	.	ENSG00000239306	ENST00000310137	D	0.91180	-2.8	5.22	4.32	0.51571	.	0.125092	0.53938	N	0.000052	D	0.83492	0.5266	N	0.24115	0.695	0.80722	D	1	B	0.16166	0.016	B	0.04013	0.001	T	0.80439	-0.1382	10	0.87932	D	0	-1.197	11.505	0.50461	0.0864:0.0:0.9136:0.0	.	580	Q96PK6	RBM14_HUMAN	H	580	ENSP00000311747:R580H	ENSP00000311747:R580H	R	+	2	0	RBM14	66149662	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.552000	0.60747	1.444000	0.47605	0.655000	0.94253	CGC		0.667	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		12	10	0	0	0	1	0	12	10				
WHSC1	7468	broad.mit.edu	37	4	1957028	1957028	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1957028G>A	ENST00000382895.3	+	15	2910	c.2479G>A	c.(2479-2481)Gcc>Acc	p.A827T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A827T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A827T|WHSC1_ENST00000382888.3_Missense_Mutation_p.A175T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.A827T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	827					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGACACCACGCCCACGTCAA	0.612			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2479-2481)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1							84.0	71.0	76.0					4																	1957028		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957028G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2479G>A	4.37:g.1957028G>A	ENSP00000372351:p.Ala827Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.A827T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A827T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A827T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A175T	p.A827T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	15	2910	+		all_epithelial(65;1.34e-05)	827					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2479G>A	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.710324|2.710324	0.48517|0.48517	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888|ENST00000514329	D;D;D;D;D|.	0.94457|.	-3.43;-3.43;-3.43;-3.43;-3.43|.	5.77|5.77	3.74|3.74	0.42951|0.42951	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.225631|.	0.30920|.	N|.	0.008602|.	T|T	0.57621|0.57621	0.2066|0.2066	L|L	0.50333|0.50333	1.59|1.59	0.53688|0.53688	D|D	0.999974|0.999974	B;B|.	0.14438|.	0.003;0.01|.	B;B|.	0.09377|.	0.004;0.003|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.31617|.	T|.	0.26|.	.|.	9.2788|9.2788	0.37716|0.37716	0.2043:0.0:0.7957:0.0|0.2043:0.0:0.7957:0.0	.|.	175;827|.	A2A2T2;O96028|.	.;NSD2_HUMAN|.	T|H	827;827;827;827;175|150	ENSP00000423972:A827T;ENSP00000372347:A827T;ENSP00000372348:A827T;ENSP00000372351:A827T;ENSP00000372344:A175T|.	ENSP00000372344:A175T|.	A|R	+|+	1|2	0|0	WHSC1|WHSC1	1926826|1926826	0.166000|0.166000	0.22962|0.22962	0.240000|0.240000	0.24138|0.24138	0.947000|0.947000	0.59692|0.59692	1.626000|1.626000	0.37039|0.37039	0.550000|0.550000	0.28991|0.28991	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.612	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		11	16	0	0	0	1	0	11	16				
ASXL1	171023	broad.mit.edu	37	20	31021232	31021232	+	Missense_Mutation	SNP	C	C	T	rs148964601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31021232C>T	ENST00000375687.4	+	12	1655	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	ASXL1_ENST00000306058.5_Missense_Mutation_p.R406C	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	411	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTTAAGAAACGCTCTCGGCC	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1231-1233)Cgc>Tgc		additional sex combs like 1 (Drosophila)		C	CYS/ARG	0,4406		0,0,2203	91.0	89.0	90.0		1231	4.5	1.0	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASXL1	NM_015338.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	411/1542	31021232	1,13005	2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021232C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1231C>T	20.37:g.31021232C>T	ENSP00000364839:p.Arg411Cys					ASXL1_ENST00000306058.5_Missense_Mutation_p.R406C	p.R411C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1655	+			411					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1231C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904594	0.72868	0.0	1.16E-4	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.25;2.25	4.49	4.49	0.54785	.	0.109676	0.64402	D	0.000005	T	0.36991	0.0987	M	0.67953	2.075	0.80722	D	1	D;P	0.89917	1.0;0.931	D;B	0.74348	0.983;0.265	T	0.07214	-1.0784	10	0.62326	D	0.03	-4.4039	11.269	0.49127	0.0:0.9154:0.0:0.0846	.	406;411	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	C	411;411;411;350;406	ENSP00000364839:R411C;ENSP00000305119:R406C	ENSP00000305119:R406C	R	+	1	0	ASXL1	30484893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.700000	0.61803	2.493000	0.84123	0.655000	0.94253	CGC		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		26	27	0	0	0	1	0	26	27				
FLNB	2317	broad.mit.edu	37	3	58109158	58109158	+	Silent	SNP	C	C	T	rs542106385		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58109158C>T	ENST00000295956.4	+	21	3630	c.3465C>T	c.(3463-3465)agC>agT	p.S1155S	FLNB_ENST00000429972.2_Silent_p.S1155S|FLNB_ENST00000493452.1_Silent_p.S986S|FLNB_ENST00000358537.3_Silent_p.S1155S|FLNB_ENST00000357272.4_Silent_p.S1155S|FLNB_ENST00000348383.5_Silent_p.S1155S|FLNB_ENST00000419752.2_Silent_p.S986S|FLNB_ENST00000490882.1_Silent_p.S1155S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1155	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCTCCTTAGCGTCGACTGCT	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16396	0.0		0.0	False		,,,				2504	0.0					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3463-3465)agC>agT		filamin B, beta							67.0	75.0	72.0					3																	58109158		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58109158C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3465C>T	3.37:g.58109158C>T						FLNB_ENST00000490882.1_Silent_p.S1155S|FLNB_ENST00000295956.4_Silent_p.S1155S|FLNB_ENST00000493452.1_Silent_p.S986S|FLNB_ENST00000358537.3_Silent_p.S1155S|FLNB_ENST00000429972.2_Silent_p.S1155S|FLNB_ENST00000419752.2_Silent_p.S986S|FLNB_ENST00000348383.5_Silent_p.S1155S	p.S1155S			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3630	+			1155			Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3465C>T	CCDS2885.1																																																																																				0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		27	49	0	0	0	1	0	27	49				
UBR5	51366	broad.mit.edu	37	8	103293668	103293668	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103293668G>A	ENST00000520539.1	-	41	6382	c.5776C>T	c.(5776-5778)Cgg>Tgg	p.R1926W	UBR5_ENST00000220959.4_Missense_Mutation_p.R1926W|UBR5_ENST00000521922.1_Missense_Mutation_p.R1920W	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1926					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTATGAGACCGCATTAGAGAC	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5776-5778)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 5							132.0	117.0	122.0					8																	103293668		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293668G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5776C>T	8.37:g.103293668G>A	ENSP00000429084:p.Arg1926Trp					UBR5_ENST00000220959.4_Missense_Mutation_p.R1926W|UBR5_ENST00000521922.1_Missense_Mutation_p.R1920W	p.R1926W	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	6382	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1926					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5776C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378093	0.82682	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.63580	-0.05;-0.05;-0.05	5.02	-2.55	0.06288	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.75085	2.285	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.78391	-0.2222	10	0.87932	D	0	.	16.7995	0.85610	0.0:0.0:0.3315:0.6685	.	1920;1926	E7EMW7;O95071	.;UBR5_HUMAN	W	1926;1926;1920	ENSP00000429084:R1926W;ENSP00000220959:R1926W;ENSP00000427819:R1920W	ENSP00000220959:R1926W	R	-	1	2	UBR5	103362844	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	3.298000	0.51818	-0.485000	0.06754	0.563000	0.77884	CGG		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		31	36	0	0	0	1	0	31	36				
VPS53	55275	broad.mit.edu	37	17	526886	526886	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:526886T>C	ENST00000571805.1	-	11	1139	c.1003A>G	c.(1003-1005)Aga>Gga	p.R335G	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.R335G|VPS53_ENST00000446250.2_Missense_Mutation_p.R137G|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.R306G|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	335					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCCTTCGCTCTGGTACGCATA	0.403																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1003-1005)Aga>Gga		vacuolar protein sorting 53 homolog (S. cerevisiae)							84.0	76.0	79.0					17																	526886		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:526886T>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1003A>G	17.37:g.526886T>C	ENSP00000459312:p.Arg335Gly					VPS53_ENST00000571805.1_Missense_Mutation_p.R335G|VPS53_ENST00000291074.5_Missense_Mutation_p.R306G|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.R137G	p.R335G	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	11	1149	-			335					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.1003A>G		.	.	.	.	.	.	.	.	.	.	T	19.57	3.852638	0.71719	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.34472	1.36;1.36;1.36;1.37	5.7	4.62	0.57501	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.996;0.995	D;D;D;D	0.76575	0.928;0.98;0.988;0.972	T	0.63721	-0.6573	10	0.87932	D	0	-22.9294	12.9699	0.58508	0.0:0.0:0.1642:0.8358	.	335;137;335;306	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	G	335;137;306;287	ENSP00000401435:R335G;ENSP00000394386:R137G;ENSP00000291074:R306G;ENSP00000373692:R287G	ENSP00000291074:R306G	R	-	1	2	VPS53	473636	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.661000	0.46758	2.168000	0.68352	0.533000	0.62120	AGA		0.403	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		8	35	0	0	0	1	0	8	35				
ITSN2	50618	broad.mit.edu	37	2	24433672	24433672	+	Missense_Mutation	SNP	C	C	T	rs372075368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24433672C>T	ENST00000355123.4	-	34	4677	c.4234G>A	c.(4234-4236)Gtg>Atg	p.V1412M	ITSN2_ENST00000361999.3_Missense_Mutation_p.V1385M	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1412					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACACTGCACGTGCGCCTGG	0.632																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4234-4236)Gtg>Atg		intersectin 2		C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78.0	68.0	72.0		4234,4153	2.9	0.0	2		72	0,8600		0,0,4300	no	missense,missense	ITSN2	NM_006277.2,NM_019595.3	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1412/1698,1385/1671	24433672	1,13005	2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24433672C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4234G>A	2.37:g.24433672C>T	ENSP00000347244:p.Val1412Met					ITSN2_ENST00000361999.3_Missense_Mutation_p.V1385M	p.V1412M	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			34	4677	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1412					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4234G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742953	0.30865	2.27E-4	0.0	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.33216	1.42;1.42;1.42	4.72	2.89	0.33648	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.33515	U	0.004834	T	0.49508	0.1561	M	0.80616	2.505	0.47183	D	0.999343	D;D	0.67145	0.996;0.989	P;P	0.59221	0.854;0.578	T	0.56001	-0.8051	10	0.87932	D	0	.	10.5132	0.44874	0.0:0.8416:0.0:0.1584	.	1385;1412	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	M	1385;1412;1385	ENSP00000354561:V1385M;ENSP00000347244:V1412M;ENSP00000370250:V1385M	ENSP00000347244:V1412M	V	-	1	0	ITSN2	24287176	0.998000	0.40836	0.026000	0.17262	0.341000	0.28922	3.763000	0.55257	1.128000	0.42052	-0.237000	0.12165	GTG		0.632	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		11	26	0	0	0	1	0	11	26				
SLC38A2	54407	broad.mit.edu	37	12	46757607	46757607	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46757607C>T	ENST00000256689.5	-	12	1400	c.956G>A	c.(955-957)cGc>cAc	p.R319H	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R157H|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	319					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCTACGGCTGCGGCTATGTAA	0.333																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(955-957)cGc>cAc		solute carrier family 38, member 2							89.0	91.0	90.0					12																	46757607		2202	4298	6500	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757607C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.956G>A	12.37:g.46757607C>T	ENSP00000256689:p.Arg319His					SLC38A2_ENST00000551374.1_Missense_Mutation_p.R157H	p.R319H	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1400	-	Lung SC(27;0.192)|Renal(347;0.236)		319					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.956G>A	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249105	0.80024	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02446	4.29;4.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.962;1.0;0.999	T	0.00060	-1.2162	10	0.66056	D	0.02	-7.9427	19.5567	0.95351	0.0:1.0:0.0:0.0	.	157;219;319	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	H	319;157	ENSP00000256689:R319H;ENSP00000450406:R157H	ENSP00000256689:R319H	R	-	2	0	SLC38A2	45043874	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.496000	0.60360	2.711000	0.92665	0.563000	0.77884	CGC		0.333	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			13	25	0	0	0	1	0	13	25				
SRCAP	10847	broad.mit.edu	37	16	30747622	30747622	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30747622T>C	ENST00000262518.4	+	32	7216	c.6831T>C	c.(6829-6831)ttT>ttC	p.F2277F	SRCAP_ENST00000344771.4_Silent_p.F2119F|SRCAP_ENST00000395059.2_Silent_p.F2215F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2277	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACGATGGGTTTCCTGCTGGTG	0.572																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6829-6831)ttT>ttC		Snf2-related CREBBP activator protein							87.0	82.0	84.0					16																	30747622		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30747622T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6831T>C	16.37:g.30747622T>C						SRCAP_ENST00000344771.4_Silent_p.F2119F|SRCAP_ENST00000395059.2_Silent_p.F2215F	p.F2277F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		32	7216	+			2277			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.6831T>C	CCDS10689.2																																																																																				0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		18	25	0	0	0	1	0	18	25				
DNAH10	196385	broad.mit.edu	37	12	124268552	124268552	+	Missense_Mutation	SNP	C	C	T	rs566391168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124268552C>T	ENST00000409039.3	+	8	900	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	292	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCTTAAGTGCGCTGCATGAA	0.443																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(874-876)gCg>gTg		dynein, axonemal, heavy chain 10							110.0	99.0	103.0					12																	124268552		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268552C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.875C>T	12.37:g.124268552C>T	ENSP00000386770:p.Ala292Val						p.A292V	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	900	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		292			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.875C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036896	0.54896	.	.	ENSG00000197653	ENST00000409039	T	0.56275	0.47	5.86	5.86	0.93980	Dynein heavy chain, domain-1 (1);	0.172567	0.40818	N	0.001002	T	0.66237	0.2769	M	0.83692	2.655	0.35032	D	0.758911	D	0.60160	0.987	P	0.52823	0.71	T	0.71537	-0.4563	10	0.18710	T	0.47	.	16.4809	0.84157	0.1314:0.8686:0.0:0.0	.	292	Q8IVF4	DYH10_HUMAN	V	292	ENSP00000386770:A292V	ENSP00000386770:A292V	A	+	2	0	DNAH10	122834505	0.998000	0.40836	0.456000	0.27044	0.147000	0.21601	3.752000	0.55172	2.781000	0.95711	0.650000	0.86243	GCG		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			18	27	0	0	0	1	0	18	27				
GPR119	139760	broad.mit.edu	37	X	129518840	129518840	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129518840C>T	ENST00000276218.2	-	1	671	c.582G>A	c.(580-582)atG>atA	p.M194I		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	194					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCTGGCTGTGCATGGAGGCAA	0.542																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(580-582)atG>atA		G protein-coupled receptor 119							95.0	77.0	83.0					X																	129518840		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518840C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.582G>A	X.37:g.129518840C>T	ENSP00000276218:p.Met194Ile						p.M194I	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	671	-			194					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.582G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.962039	0.18583	.	.	ENSG00000147262	ENST00000276218	T	0.36520	1.25	5.15	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.990688	0.08238	N	0.976481	T	0.23370	0.0565	N	0.14661	0.345	0.25844	N	0.984028	B	0.09022	0.002	B	0.13407	0.009	T	0.25398	-1.0133	10	0.40728	T	0.16	-0.4418	7.9434	0.29971	0.0:0.7262:0.0:0.2738	.	194	Q8TDV5	GP119_HUMAN	I	194	ENSP00000276218:M194I	ENSP00000276218:M194I	M	-	3	0	GPR119	129346521	0.882000	0.30256	0.712000	0.30502	0.813000	0.45954	1.485000	0.35519	0.560000	0.29169	0.600000	0.82982	ATG		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		11	7	0	0	0	1	0	11	7				
STAB2	55576	broad.mit.edu	37	12	104140469	104140469	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104140469A>G	ENST00000388887.2	+	58	6435	c.6231A>G	c.(6229-6231)ggA>ggG	p.G2077G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGGTGACGGAATCACATGCA	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6229-6231)ggA>ggG		stabilin 2							274.0	211.0	232.0					12																	104140469		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140469A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6231A>G	12.37:g.104140469A>G						RP11-341G23.4_ENST00000551299.1_RNA	p.G2077G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6435	+			2077			EGF-like 15.			Silent	SNP	ENST00000388887.2	37	c.6231A>G	CCDS31888.1																																																																																				0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			38	101	0	0	0	1	0	38	101				
SP4	6671	broad.mit.edu	37	7	21469853	21469853	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21469853G>A	ENST00000222584.3	+	3	1288	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	357					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGTTCTGAACGCACCATTGAA	0.483																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1069-1071)cGc>cAc		Sp4 transcription factor							93.0	77.0	82.0					7																	21469853		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469853G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1070G>A	7.37:g.21469853G>A	ENSP00000222584:p.Arg357His						p.R357H	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1288	+			357					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1070G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033920	0.19590	.	.	ENSG00000105866	ENST00000222584	T	0.08807	3.05	4.85	4.85	0.62838	.	0.091536	0.47093	D	0.000256	T	0.04092	0.0114	N	0.08118	0	0.38327	D	0.943694	B	0.33904	0.431	B	0.29862	0.108	T	0.44967	-0.9293	10	0.45353	T	0.12	.	8.1136	0.30928	0.0914:0.1639:0.7447:0.0	.	357	Q02446	SP4_HUMAN	H	357	ENSP00000222584:R357H	ENSP00000222584:R357H	R	+	2	0	SP4	21436378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.860000	0.55995	2.512000	0.84698	0.591000	0.81541	CGC		0.483	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		18	32	0	0	0	1	0	18	32				
ZNF287	57336	broad.mit.edu	37	17	16455754	16455754	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16455754C>T	ENST00000395824.1	-	6	2319	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E568K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	561					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCCACATTCATTACATTTA	0.353																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1702-1704)Gaa>Aaa		zinc finger protein 287							87.0	90.0	89.0					17																	16455754		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455754C>T	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1702G>A	17.37:g.16455754C>T	ENSP00000379168:p.Glu568Lys					ZNF287_ENST00000395825.3_Missense_Mutation_p.E568K	p.E568K			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2319	-			561					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1702G>A	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228473	0.39399	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.07327	3.2;3.2	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135344	0.34959	N	0.003559	T	0.08626	0.0214	L	0.31476	0.935	0.19300	N	0.999976	P	0.34815	0.47	B	0.33750	0.169	T	0.21518	-1.0243	10	0.62326	D	0.03	.	16.6061	0.84830	0.0:1.0:0.0:0.0	.	561	Q9HBT7	ZN287_HUMAN	K	568	ENSP00000379169:E568K;ENSP00000379168:E568K	ENSP00000379168:E568K	E	-	1	0	ZNF287	16396479	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	0.312000	0.19397	2.873000	0.98535	0.561000	0.74099	GAA		0.353	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			22	39	0	0	0	1	0	22	39				
ADAM20	8748	broad.mit.edu	37	14	70991600	70991600	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70991600C>A	ENST00000256389.3	-	2	269	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCTGGGGATCTGTGTCCTGG	0.537																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(25-27)Gat>Tat		ADAM metallopeptidase domain 20							135.0	113.0	120.0					14																	70991600		2202	4296	6498	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991600C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.25G>T	14.37:g.70991600C>A	ENSP00000256389:p.Asp9Tyr					RP11-486O13.4_ENST00000556646.1_lincRNA	p.D9Y	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	269	-			0					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.25G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537334	0.45176	.	.	ENSG00000134007	ENST00000256389	T	0.01084	5.36	3.3	1.43	0.22495	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49214	-0.8963	6	0.54805	T	0.06	.	4.9472	0.13994	0.0:0.7157:0.0:0.2843	.	.	.	.	Y	9	ENSP00000256389:D9Y	ENSP00000256389:D9Y	D	-	1	0	ADAM20	70061353	0.000000	0.05858	0.705000	0.30386	0.159000	0.22180	0.112000	0.15479	0.723000	0.32274	0.632000	0.83419	GAT		0.537	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			46	50	1	0	3.21987e-24	1	3.59154e-24	46	50				
TTC13	79573	broad.mit.edu	37	1	231067184	231067184	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231067184C>T	ENST00000366661.4	-	11	1167	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	TTC13_ENST00000414259.1_Missense_Mutation_p.C334Y|TTC13_ENST00000366662.4_Missense_Mutation_p.C334Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	387										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CATATACTGGCACACTTCATT	0.413																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1159-1161)tGc>tAc		tetratricopeptide repeat domain 13							130.0	122.0	125.0					1																	231067184		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231067184C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1160G>A	1.37:g.231067184C>T	ENSP00000355621:p.Cys387Tyr					TTC13_ENST00000366662.4_Missense_Mutation_p.C334Y|TTC13_ENST00000414259.1_Missense_Mutation_p.C334Y	p.C387Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	11	1167	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	387					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1160G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886906	0.52014	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.59906	1.35;0.23;0.23	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	L	0.29908	0.895	0.80722	D	1	B;D;B;B	0.71674	0.131;0.998;0.023;0.078	B;D;B;B	0.78314	0.043;0.991;0.015;0.043	T	0.69807	-0.5045	10	0.62326	D	0.03	-12.2921	19.9923	0.97371	0.0:1.0:0.0:0.0	.	312;334;334;387	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	Y	387;334;334	ENSP00000355621:C387Y;ENSP00000355622:C334Y;ENSP00000416631:C334Y	ENSP00000355621:C387Y	C	-	2	0	TTC13	229133807	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	7.743000	0.85020	2.729000	0.93468	0.585000	0.79938	TGC		0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		30	44	0	0	0	1	0	30	44				
CEP192	55125	broad.mit.edu	37	18	13087063	13087063	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13087063C>T	ENST00000325971.8	+	29	5469	c.3876C>T	c.(3874-3876)ggC>ggT	p.G1292G	CEP192_ENST00000506447.1_Silent_p.G1888G|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.G1413G			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1292					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTTGGAAGGCGTTAAAAAAT	0.348																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5662-5664)ggC>ggT		centrosomal protein 192kDa							80.0	81.0	81.0					18																	13087063		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13087063C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3876C>T	18.37:g.13087063C>T						CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.G1292G|CEP192_ENST00000430049.2_Silent_p.G1413G	p.G1888G	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			31	5744	+			1483					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.5664C>T																																																																																					0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		17	36	0	0	0	1	0	17	36				
RORA	6095	broad.mit.edu	37	15	60789757	60789757	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60789757G>A	ENST00000335670.6	-	11	1569	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	RORA_ENST00000261523.5_Missense_Mutation_p.A523V|RORA_ENST00000309157.4_Missense_Mutation_p.A515V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.A435V|RP11-219B17.1_ENST00000558140.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	490	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTTTAAATGCCATTAGCTT	0.403																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1468-1470)gCa>gTa		RAR-related orphan receptor A							185.0	156.0	166.0					15																	60789757		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60789757G>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1469C>T	15.37:g.60789757G>A	ENSP00000335087:p.Ala490Val					RORA_ENST00000449337.2_Missense_Mutation_p.A435V|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.A515V|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.A523V|RP11-219B17.1_ENST00000558235.1_RNA	p.A490V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			11	1569	-			523			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.1469C>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657355	0.29425	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.96	5.96	0.96718	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.19583	0.002;0.017;0.037;0.002	B;B;B;B	0.24155	0.002;0.006;0.051;0.002	D	0.85822	0.1386	10	0.17369	T	0.5	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	490;515;523;435	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	V	490;435;515;523	ENSP00000335087:A490V;ENSP00000402971:A435V;ENSP00000309753:A515V;ENSP00000261523:A523V	ENSP00000261523:A523V	A	-	2	0	RORA	58577049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.826000	0.97356	0.655000	0.94253	GCA		0.403	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			13	60	0	0	0	1	0	13	60				
THSD7B	80731	broad.mit.edu	37	2	137852464	137852464	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:137852464C>T	ENST00000409968.1	+	4	1150	c.972C>T	c.(970-972)ttC>ttT	p.F324F	THSD7B_ENST00000272643.3_Silent_p.F324F|THSD7B_ENST00000413152.2_Silent_p.F293F|THSD7B_ENST00000543459.1_Silent_p.F183F			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	324						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGATTCCTTCCCATTGACTG	0.458																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(970-972)ttC>ttT		thrombospondin, type I, domain containing 7B							126.0	131.0	130.0					2																	137852464		1876	4100	5976	SO:0001819	synonymous_variant	80731							g.chr2:137852464C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.972C>T	2.37:g.137852464C>T						THSD7B_ENST00000272643.3_Silent_p.F324F|THSD7B_ENST00000543459.1_Silent_p.F183F|THSD7B_ENST00000413152.2_Silent_p.F293F	p.F324F						BRCA - Breast invasive adenocarcinoma(221;0.19)	4	1150	+									Silent	SNP	ENST00000409968.1	37	c.972C>T																																																																																					0.458	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		27	47	0	0	0	1	0	27	47				
EIF2B1	1967	broad.mit.edu	37	12	124106308	124106308	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124106308G>T	ENST00000424014.2	-	9	1121	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	305					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		ACAGGTTACAGATAGAGCTTG	0.542																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(913-915)Ctg>Atg		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							94.0	71.0	79.0					12																	124106308		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106308G>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.913C>A	12.37:g.124106308G>T	ENSP00000416250:p.Leu305Met					EIF2B1_ENST00000539951.1_3'UTR	p.L305M	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1121	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		305					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.913C>A	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117508	0.56505	.	.	ENSG00000111361	ENST00000424014;ENST00000228958	D;D	0.91792	-2.89;-2.91	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	L	0.57536	1.79	0.80722	D	1	P	0.43094	0.799	P	0.47705	0.555	D	0.90024	0.4130	10	0.41790	T	0.15	.	12.5606	0.56279	0.1892:0.0:0.8108:0.0	.	305	Q14232	EI2BA_HUMAN	M	305;303	ENSP00000416250:L305M;ENSP00000228958:L303M	ENSP00000228958:L303M	L	-	1	2	EIF2B1	122672261	0.981000	0.34729	0.021000	0.16686	0.409000	0.31022	1.991000	0.40727	0.953000	0.37825	-0.797000	0.03246	CTG		0.542	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		15	20	1	0	5.03518e-11	1	5.40566e-11	15	20				
NUP214	8021	broad.mit.edu	37	9	134049546	134049546	+	Missense_Mutation	SNP	C	C	T	rs79941555	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134049546C>T	ENST00000359428.5	+	22	3142	c.2998C>T	c.(2998-3000)Cgg>Tgg	p.R1000W	NUP214_ENST00000411637.2_Missense_Mutation_p.R990W|NUP214_ENST00000451030.1_Missense_Mutation_p.R1001W			P35658	NU214_HUMAN	nucleoporin 214kDa	1000	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGAAGATGCACGGACGTCCTG	0.557			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								C|||	2	0.000399361	0.0015	0.0	5008	,	,		15541	0.0		0.0	False		,,,				2504	0.0				Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2998-3000)Cgg>Tgg		nucleoporin 214kDa		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	126.0	114.0	118.0		2998	5.8	0.5	9	dbSNP_131	118	0,8600		0,0,4300	yes	missense	NUP214	NM_005085.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1000/2091	134049546	2,13004	2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134049546C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2998C>T	9.37:g.134049546C>T	ENSP00000352400:p.Arg1000Trp					NUP214_ENST00000451030.1_Missense_Mutation_p.R1001W|NUP214_ENST00000411637.2_Missense_Mutation_p.R990W	p.R1000W			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	22	3142	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1000			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2998C>T	CCDS6940.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.9	4.781298	0.90282	4.54E-4	0.0	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.32988	1.43;1.43;1.43	5.81	5.81	0.92471	.	0.564807	0.14921	N	0.290661	T	0.32010	0.0815	N	0.08118	0	0.27506	N	0.951831	D;D;D;D	0.71674	0.998;0.998;0.995;0.995	P;P;P;P	0.53861	0.711;0.736;0.736;0.736	T	0.37150	-0.9718	10	0.66056	D	0.02	-0.4585	19.0707	0.93134	0.0:1.0:0.0:0.0	.	989;594;990;1000	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	W	1000;990;1001;989;594;429	ENSP00000352400:R1000W;ENSP00000396576:R990W;ENSP00000405014:R1001W	ENSP00000352400:R1000W	R	+	1	2	NUP214	133039367	0.449000	0.25689	0.491000	0.27477	0.668000	0.39293	3.824000	0.55723	2.746000	0.94184	0.655000	0.94253	CGG		0.557	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		20	56	0	0	0	1	0	20	56				
PCDHB13	56123	broad.mit.edu	37	5	140594169	140594169	+	Silent	SNP	C	C	T	rs2860691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140594169C>T	ENST00000341948.4	+	1	661	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAGAATGCCGAAGACTTAG	0.443																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(472-474)gcC>gcT									77.0	79.0	78.0					5																	140594169		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594169C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.474C>T	5.37:g.140594169C>T							p.A158A	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	661	+			158			Cadherin 2.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.474C>T	CCDS4255.1																																																																																				0.443	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		28	66	0	0	0	1	0	28	66				
TRAK2	66008	broad.mit.edu	37	2	202259538	202259538	+	Missense_Mutation	SNP	G	G	A	rs145122223		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202259538G>A	ENST00000332624.3	-	9	1386	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	320	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTCAGTTGCCGTTGGGCATCT	0.358																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(958-960)Cgg>Tgg		trafficking protein, kinesin binding 2		G	TRP/ARG	0,4406		0,0,2203	115.0	103.0	107.0		958	3.4	1.0	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAK2	NM_015049.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/915	202259538	1,13005	2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202259538G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.958C>T	2.37:g.202259538G>A	ENSP00000328875:p.Arg320Trp						p.R320W	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			9	1386	-			320	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.958C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340496	0.60963	0.0	1.16E-4	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.20200	2.09	5.51	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35276	-0.9795	10	0.87932	D	0	.	13.1605	0.59542	0.0:0.0:0.2028:0.7972	.	320	O60296	TRAK2_HUMAN	W	320;226	ENSP00000328875:R320W	ENSP00000328875:R320W	R	-	1	2	TRAK2	201967783	1.000000	0.71417	0.957000	0.39632	0.768000	0.43524	2.120000	0.41968	0.536000	0.28733	-0.270000	0.10280	CGG		0.358	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		5	41	0	0	0	1	0	5	41				
ABCC3	8714	broad.mit.edu	37	17	48738336	48738336	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48738336C>T	ENST00000285238.8	+	8	939	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	ABCC3_ENST00000427699.1_Silent_p.L287L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	287					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGACGAGGTGCTGCTGGGTGC	0.632																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(859-861)Ctg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						36.0	34.0	35.0					17																	48738336		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48738336C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.859C>T	17.37:g.48738336C>T						ABCC3_ENST00000427699.1_Silent_p.L287L	p.L287L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		8	939	+			287					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.859C>T	CCDS32681.1																																																																																				0.632	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		12	24	0	0	0	1	0	12	24				
CALU	813	broad.mit.edu	37	7	128407537	128407537	+	Missense_Mutation	SNP	C	C	T	rs150941182		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128407537C>T	ENST00000249364.4	+	6	773	c.671C>T	c.(670-672)aCt>aTt	p.T224I	CALU_ENST00000535011.2_Intron|CALU_ENST00000542996.2_Missense_Mutation_p.T232I|CALU_ENST00000538546.1_Missense_Mutation_p.T73I|CALU_ENST00000479257.1_Missense_Mutation_p.T232I|CALU_ENST00000449187.2_Missense_Mutation_p.T224I|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	224					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GATGGGAATACTGATGAGCCA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22896	0.0		0.0	False		,,,				2504	0.0					ENST00000542996.2																			0				kidney(2)|large_intestine(3)|lung(5)	10						c.(694-696)aCt>aTt		calumenin							177.0	167.0	170.0					7																	128407537		2203	4300	6503	SO:0001583	missense	813				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr7:128407537C>T	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.671C>T	7.37:g.128407537C>T	ENSP00000249364:p.Thr224Ile					CALU_ENST00000449187.2_Missense_Mutation_p.T224I|CALU_ENST00000535011.2_Intron|CALU_ENST00000538546.1_Missense_Mutation_p.T73I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.T224I|CALU_ENST00000479257.1_Missense_Mutation_p.T232I	p.T232I	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN			7	1638	+			224			EF-hand 5.		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	c.695C>T	CCDS5805.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.30	2.494960	0.44352	.	.	ENSG00000128595	ENST00000542996;ENST00000538394;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.44	5.44	0.79542	EF-hand-like domain (1);	0.218354	0.47455	D	0.000229	T	0.40979	0.1139	N	0.17723	0.515	0.26854	N	0.968108	B;B	0.19331	0.035;0.003	B;B	0.17098	0.014;0.017	T	0.35919	-0.9769	10	0.48119	T	0.1	-2.9215	16.762	0.85514	0.0:1.0:0.0:0.0	.	232;224	D6QS48;O43852	.;CALU_HUMAN	I	232;224;73;224;224;232	ENSP00000438248:T232I;ENSP00000438994:T73I;ENSP00000249364:T224I;ENSP00000408838:T224I;ENSP00000420381:T232I	ENSP00000249364:T224I	T	+	2	0	CALU	128194773	0.110000	0.22057	1.000000	0.80357	0.964000	0.63967	2.608000	0.46308	2.561000	0.86390	0.563000	0.77884	ACT		0.463	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219		23	35	0	0	0	1	0	23	35				
EPPK1	83481	broad.mit.edu	37	8	144946563	144946563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946563C>T	ENST00000525985.1	-	2	930	c.859G>A	c.(859-861)Gtg>Atg	p.V287M				P58107	EPIPL_HUMAN	epiplakin 1	287						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCGGCCACGCTGCCGGTA	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(859-861)Gtg>Atg		epiplakin 1							21.0	29.0	26.0					8																	144946563		2142	4222	6364	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946563C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.859G>A	8.37:g.144946563C>T	ENSP00000436337:p.Val287Met						p.V287M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	930	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		287					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.859G>A		.	.	.	.	.	.	.	.	.	.	C	9.212	1.031198	0.19590	.	.	ENSG00000227184	ENST00000525985	T	0.70282	-0.47	4.81	-1.34	0.09143	.	.	.	.	.	T	0.41926	0.1180	L	0.27053	0.805	0.09310	N	1	P	0.43938	0.822	B	0.24155	0.051	T	0.41413	-0.9510	9	0.72032	D	0.01	.	0.799	0.01072	0.1506:0.2568:0.2774:0.3152	.	287	E9PPU0	.	M	287	ENSP00000436337:V287M	ENSP00000436337:V287M	V	-	1	0	EPPK1	145018551	0.000000	0.05858	0.001000	0.08648	0.196000	0.23810	-0.980000	0.03770	-0.522000	0.06417	0.511000	0.50034	GTG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	29	0	0	0	1	0	8	29				
PRDM16	63976	broad.mit.edu	37	1	3328517	3328517	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3328517T>C	ENST00000270722.5	+	9	1805	c.1756T>C	c.(1756-1758)Tcc>Ccc	p.S586P	PRDM16_ENST00000378398.3_Missense_Mutation_p.S587P|PRDM16_ENST00000378391.2_Missense_Mutation_p.S586P|PRDM16_ENST00000511072.1_Missense_Mutation_p.S587P|PRDM16_ENST00000442529.2_Missense_Mutation_p.S586P|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.S587P|PRDM16_ENST00000441472.2_Missense_Mutation_p.S586P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	586					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTGGAGGACTCCTGTGTGGA	0.657			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1759-1761)Tcc>Ccc		PR domain containing 16							48.0	59.0	55.0					1																	3328517		2166	4259	6425	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328517T>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1756T>C	1.37:g.3328517T>C	ENSP00000270722:p.Ser586Pro					PRDM16_ENST00000442529.2_Missense_Mutation_p.S586P|PRDM16_ENST00000441472.2_Missense_Mutation_p.S586P|PRDM16_ENST00000514189.1_Missense_Mutation_p.S587P|PRDM16_ENST00000511072.1_Missense_Mutation_p.S587P|PRDM16_ENST00000378391.2_Missense_Mutation_p.S586P|PRDM16_ENST00000270722.5_Missense_Mutation_p.S586P|PRDM16_ENST00000512462.1_3'UTR	p.S587P			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1841	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	586					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1759T>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.946016	0.34377	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.10099	2.91;2.95;2.96;2.92;2.91;2.93;2.96;2.92;2.92	5.1	-4.73	0.03259	.	0.629622	0.13613	N	0.375004	T	0.14141	0.0342	L	0.55481	1.735	0.22866	N	0.998632	B;P;P;P	0.51147	0.001;0.881;0.942;0.916	B;P;P;B	0.50270	0.001;0.53;0.636;0.329	T	0.08166	-1.0735	10	0.62326	D	0.03	.	10.1984	0.43069	0.0:0.1705:0.1481:0.6814	.	586;586;586;586	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	P	587;587;586;586;586;587;586;402;402;395	ENSP00000426975:S587P;ENSP00000367651:S587P;ENSP00000407968:S586P;ENSP00000405253:S586P;ENSP00000367643:S586P;ENSP00000421400:S587P;ENSP00000270722:S586P;ENSP00000422504:S402P;ENSP00000425796:S395P	ENSP00000270722:S586P	S	+	1	0	PRDM16	3318377	0.095000	0.21747	0.000000	0.03702	0.001000	0.01503	0.709000	0.25734	-0.545000	0.06224	-1.125000	0.01998	TCC		0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		25	32	0	0	0	1	0	25	32				
RDX	5962	broad.mit.edu	37	11	110124753	110124753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:110124753G>A	ENST00000343115.4	-	9	1196	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RDX_ENST00000405097.1_Nonsense_Mutation_p.R293*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R157*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R293*|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCCTTCTTCGCATGTATAGT	0.408																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(877-879)Cga>Tga		radixin							117.0	102.0	107.0					11																	110124753		2201	4296	6497	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124753G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.877C>T	11.37:g.110124753G>A	ENSP00000342830:p.Arg293*					RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.R293*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R293*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R157*	p.R293*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1196	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	293			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.877C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	39	7.339951	0.98221	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.891	0.58071	0.0:0.0:0.7299:0.2701	.	.	.	.	X	293;293;293;293;157	.	ENSP00000342830:R293X	R	-	1	2	RDX	109629963	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.650000	0.37292	2.705000	0.92388	0.655000	0.94253	CGA		0.408	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		4	45	0	0	0	1	0	4	45				
FAM65A	79567	broad.mit.edu	37	16	67576292	67576292	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67576292G>T	ENST00000379312.3	+	13	1736	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.D549Y|FAM65A_ENST00000422602.2_Missense_Mutation_p.D555Y|FAM65A_ENST00000540839.3_Missense_Mutation_p.D555Y|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.D535Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	539	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TAAGTCCACAGACTCTGGCCC	0.562																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1663-1665)Gac>Tac		family with sequence similarity 65, member A							355.0	328.0	337.0					16																	67576292		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576292G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1615G>T	16.37:g.67576292G>T	ENSP00000368614:p.Asp539Tyr					CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.D549Y|FAM65A_ENST00000042381.4_Missense_Mutation_p.D535Y|FAM65A_ENST00000379312.3_Missense_Mutation_p.D539Y|FAM65A_ENST00000422602.2_Missense_Mutation_p.D555Y|CTD-2012K14.3_ENST00000563083.1_RNA	p.D555Y			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	1883	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	539			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1663G>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.08|17.08	3.298136|3.298136	0.60086|0.60086	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.18502|.	2.22;2.22;2.21|.	4.8|4.8	1.7|1.7	0.24286|0.24286	.|.	0.463978|.	0.17543|.	N|.	0.170455|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999987|0.999987	P;P;P;P|.	0.52842|.	0.826;0.826;0.826;0.956|.	B;B;B;P|.	0.44732|.	0.365;0.365;0.365;0.459|.	T|T	0.28776|0.28776	-1.0033|-1.0033	10|5	0.72032|.	D|.	0.01|.	-3.1105|-3.1105	7.534|7.534	0.27700|0.27700	0.3029:0.0:0.6971:0.0|0.3029:0.0:0.6971:0.0	.|.	549;555;539;555|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	Y|I	539;535;555;549|529	ENSP00000368614:D539Y;ENSP00000042381:D535Y;ENSP00000400099:D555Y|.	ENSP00000042381:D535Y|.	D|R	+|+	1|2	0|0	FAM65A|FAM65A	66133793|66133793	0.011000|0.011000	0.17503|0.17503	0.551000|0.551000	0.28230|0.28230	0.731000|0.731000	0.41821|0.41821	1.703000|1.703000	0.37846|0.37846	0.090000|0.090000	0.17273|0.17273	0.543000|0.543000	0.68304|0.68304	GAC|AGA		0.562	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		10	177	1	0	1.08611e-07	1	1.14056e-07	10	177				
OR5B12	390191	broad.mit.edu	37	11	58206930	58206930	+	Missense_Mutation	SNP	C	C	T	rs199822729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:58206930C>T	ENST00000302572.2	-	1	716	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGCCTTCTGGCGTCCTTCAGG	0.418																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(694-696)cGc>cAc		olfactory receptor, family 5, subfamily B, member 12							73.0	71.0	72.0					11																	58206930		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206930C>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.695G>A	11.37:g.58206930C>T	ENSP00000306657:p.Arg232His						p.R232H	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	716	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	232					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.695G>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	1.092	-0.663754	0.03428	.	.	ENSG00000172362	ENST00000302572	T	0.00333	8.07	4.3	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.402896	0.21419	N	0.074846	T	0.00300	0.0009	M	0.64170	1.965	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39333	-0.9619	10	0.46703	T	0.11	-17.1327	11.5066	0.50471	0.0:0.795:0.1273:0.0777	.	232	Q96R08	OR5BC_HUMAN	H	232	ENSP00000306657:R232H	ENSP00000306657:R232H	R	-	2	0	OR5B12	57963506	0.000000	0.05858	0.867000	0.34043	0.074000	0.17049	-2.572000	0.00912	0.173000	0.19788	-1.598000	0.00824	CGC		0.418	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		23	23	0	0	0	1	0	23	23				
MACF1	23499	broad.mit.edu	37	1	39845971	39845971	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39845971C>T	ENST00000372915.3	+	54	13676	c.13589C>T	c.(13588-13590)gCc>gTc	p.A4530V	MACF1_ENST00000289893.4_Missense_Mutation_p.A2965V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2463V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2442V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4562V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2463V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2463V|MACF1_ENST00000564288.1_Missense_Mutation_p.A4525V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4530					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTAAAGGAAGCCCTGGCTGGA	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13573-13575)gCc>gTc		microtubule-actin crosslinking factor 1							61.0	65.0	64.0					1																	39845971		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39845971C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13589C>T	1.37:g.39845971C>T	ENSP00000362006:p.Ala4530Val					MACF1_ENST00000567887.1_Missense_Mutation_p.A4562V|MACF1_ENST00000539005.1_Missense_Mutation_p.A2442V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4530V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2463V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2463V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2965V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2463V	p.A4525V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		55	14351	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4530					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13574C>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.702398	0.88924	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000012	T	0.66327	0.2778	L	0.51422	1.61	0.80722	D	1	D;P;B	0.56035	0.974;0.723;0.094	P;P;B	0.60012	0.867;0.458;0.084	T	0.60250	-0.7300	10	0.36615	T	0.2	.	20.2954	0.98549	0.0:1.0:0.0:0.0	.	4530;2463;2407	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	V	2463;4530;2463;2463;2442;2965	ENSP00000439537:A2463V;ENSP00000362006:A4530V;ENSP00000354573:A2463V;ENSP00000313438:A2463V;ENSP00000444364:A2442V;ENSP00000289893:A2965V	ENSP00000289893:A2965V	A	+	2	0	MACF1	39618558	0.978000	0.34361	1.000000	0.80357	0.924000	0.55760	2.287000	0.43505	2.805000	0.96524	0.460000	0.39030	GCC		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	57	0	0	0	1	0	4	57				
CCNJL	79616	broad.mit.edu	37	5	159680778	159680778	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159680778G>A	ENST00000393977.3	-	7	1200	c.915C>T	c.(913-915)gcC>gcT	p.A305A	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.A257A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	305						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACGGCTACGGCATCCTTGA	0.607																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(913-915)gcC>gcT		cyclin J-like							35.0	40.0	38.0					5																	159680778		2026	4168	6194	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159680778G>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.915C>T	5.37:g.159680778G>A						CCNJL_ENST00000257536.7_Silent_p.A257A|CCNJL_ENST00000377503.2_5'UTR	p.A305A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1200	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	305					Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.915C>T	CCDS4350.2																																																																																				0.607	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		13	23	0	0	0	1	0	13	23				
HYLS1	219844	broad.mit.edu	37	11	125769528	125769528	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125769528C>T	ENST00000425380.2	+	3	1046	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.L89F|HYLS1_ENST00000356438.3_Missense_Mutation_p.L89F	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	89						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CTCCCAAAGACTCCGAAAGCC	0.483																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(265-267)Ctc>Ttc		hydrolethalus syndrome 1							70.0	74.0	73.0					11																	125769528		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125769528C>T	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.265C>T	11.37:g.125769528C>T	ENSP00000414884:p.Leu89Phe					HYLS1_ENST00000526028.1_Missense_Mutation_p.L89F|HYLS1_ENST00000356438.3_Missense_Mutation_p.L89F|PUS3_ENST00000227474.3_Intron	p.L89F	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1046	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	89					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.265C>T	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460263	0.12342	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.64618	-0.11;-0.11;-0.11	5.65	1.48	0.22813	.	0.869605	0.09659	N	0.772744	T	0.42494	0.1205	L	0.36672	1.1	0.09310	N	0.999997	B	0.10296	0.003	B	0.08055	0.003	T	0.25813	-1.0121	10	0.09843	T	0.71	.	1.7173	0.02904	0.2252:0.4324:0.121:0.2214	.	89	Q96M11	HYLS1_HUMAN	F	89	ENSP00000348815:L89F;ENSP00000414884:L89F;ENSP00000436833:L89F	ENSP00000348815:L89F	L	+	1	0	HYLS1	125274738	0.000000	0.05858	0.990000	0.47175	0.969000	0.65631	-1.169000	0.03120	0.457000	0.26962	-0.150000	0.13652	CTC		0.483	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		29	28	0	0	0	1	0	29	28				
JAK3	3718	broad.mit.edu	37	19	17946739	17946739	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17946739G>A	ENST00000527670.1	-	13	1937	c.1908C>T	c.(1906-1908)aaC>aaT	p.N636N	JAK3_ENST00000458235.1_Silent_p.N636N|JAK3_ENST00000534444.1_Silent_p.N636N|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	636	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TCACCAGATAGTTGAGGGCGT	0.572		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1906-1908)aaC>aaT		Janus kinase 3							83.0	70.0	74.0					19																	17946739		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17946739G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1908C>T	19.37:g.17946739G>A						JAK3_ENST00000534444.1_Silent_p.N636N|JAK3_ENST00000527670.1_Silent_p.N636N	p.N636N	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			14	2007	-			636			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1908C>T	CCDS12366.1																																																																																				0.572	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		8	16	0	0	0	1	0	8	16				
NGLY1	55768	broad.mit.edu	37	3	25761538	25761538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25761538G>A	ENST00000280700.5	-	11	1916	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Nonsense_Mutation_p.R568*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R544*	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	586	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTATCAGATCGCAATTTCCAT	0.378																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1702-1704)Cga>Tga		N-glycanase 1							124.0	116.0	119.0					3																	25761538		2203	4300	6503	SO:0001587	stop_gained	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761538G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1756C>T	3.37:g.25761538G>A	ENSP00000280700:p.Arg586*					NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R586*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R544*|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Intron	p.R568*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			11	1809	-			586			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Nonsense_Mutation	SNP	ENST00000280700.5	37	c.1702C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307579	0.95629	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	.	.	.	5.73	2.87	0.33458	.	1.022600	0.07716	N	0.942868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.1454	6.4667	0.21985	0.1248:0.0:0.5028:0.3725	.	.	.	.	X	568;586;565;544	.	ENSP00000280700:R586X	R	-	1	2	NGLY1	25736542	0.564000	0.26602	0.442000	0.26870	0.533000	0.34776	0.930000	0.28858	0.720000	0.32209	0.563000	0.77884	CGA		0.378	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			28	38	0	0	0	1	0	28	38				
EXOC3L1	283849	broad.mit.edu	37	16	67221640	67221640	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67221640C>T	ENST00000314586.6	-	5	768	c.528G>A	c.(526-528)acG>acA	p.T176T	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	176	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGGTGCCCACGTATCCTCTC	0.632																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(526-528)acG>acA		exocyst complex component 3-like 1							37.0	43.0	41.0					16																	67221640		2198	4300	6498	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221640C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.528G>A	16.37:g.67221640C>T						EXOC3L1_ENST00000562887.1_Intron	p.T176T	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			5	768	-			176			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.528G>A	CCDS10832.1																																																																																				0.632	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		17	24	0	0	0	1	0	17	24				
FBXO38	81545	broad.mit.edu	37	5	147813012	147813012	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:147813012C>T	ENST00000340253.5	+	16	2847	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Silent_p.H648H|FBXO38_ENST00000394370.3_Silent_p.H818H|FBXO38_ENST00000513826.1_Silent_p.H648H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	893					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACGTCACGCCATGAAAC	0.413																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2677-2679)caC>caT		F-box protein 38							102.0	100.0	101.0					5																	147813012		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147813012C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2679C>T	5.37:g.147813012C>T						FBXO38_ENST00000513826.1_Silent_p.H648H|FBXO38_ENST00000296701.6_Silent_p.H648H|FBXO38_ENST00000394370.3_Silent_p.H818H	p.H893H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2847	+			893					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2679C>T																																																																																					0.413	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		18	34	0	0	0	1	0	18	34				
SDC4	6385	broad.mit.edu	37	20	43956030	43956030	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43956030G>A	ENST00000372733.3	-	5	510	c.471C>T	c.(469-471)ggC>ggT	p.G157G	SDC4_ENST00000537976.1_Silent_p.G85G	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CAAAGAGGATGCCCACGATGC	0.537			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(469-471)ggC>ggT		syndecan 4							87.0	79.0	82.0					20																	43956030		2203	4300	6503	SO:0001819	synonymous_variant	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43956030G>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.471C>T	20.37:g.43956030G>A						SDC4_ENST00000537976.1_Silent_p.G85G	p.G157G	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			5	510	-		Myeloproliferative disorder(115;0.0122)	157					O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	ENST00000372733.3	37	c.471C>T	CCDS13350.1																																																																																				0.537	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		14	18	0	0	0	1	0	14	18				
ALDH8A1	64577	broad.mit.edu	37	6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	rs533886052		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.001					ENST00000265605.2																			1	Substitution - Missense(1)	p.T140M(1)	NS(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(418-420)aCg>aTg		aldehyde dehydrogenase 8 family, member A1							86.0	80.0	82.0					6																	135263570		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263570G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.419C>T	6.37:g.135263570G>A	ENSP00000265605:p.Thr140Met					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M|RP11-349J5.2_ENST00000416448.2_RNA	p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	487	-	Colorectal(23;0.221)		140					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.419C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506159	0.85282	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.78126	-1.15;-1.15;1.48	5.32	5.32	0.75619	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	D	0.86419	0.1753	10	0.87932	D	0	.	19.0055	0.92849	0.0:0.0:1.0:0.0	.	140;140;140	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	140	ENSP00000265605:T140M;ENSP00000356819:T140M;ENSP00000356821:T140M	ENSP00000265605:T140M	T	-	2	0	ALDH8A1	135305263	1.000000	0.71417	0.939000	0.37840	0.459000	0.32528	9.807000	0.99171	2.472000	0.83506	0.655000	0.94253	ACG		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			3	34	0	0	0	1	0	3	34				
LMLN	89782	broad.mit.edu	37	3	197707373	197707373	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:197707373C>T	ENST00000330198.4	+	6	748	c.726C>T	c.(724-726)gaC>gaT	p.D242D	LMLN_ENST00000420910.2_Silent_p.D242D|LMLN_ENST00000332636.5_Silent_p.D190D|LMLN_ENST00000482695.1_Silent_p.D190D	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	242					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAAACATGGACAGGTAATCTT	0.418																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(724-726)gaC>gaT		leishmanolysin-like (metallopeptidase M8 family)							116.0	111.0	113.0					3																	197707373		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707373C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.726C>T	3.37:g.197707373C>T						LMLN_ENST00000482695.1_Silent_p.D190D|LMLN_ENST00000332636.5_Silent_p.D190D|LMLN_ENST00000420910.2_Silent_p.D242D	p.D242D	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	748	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	242					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.726C>T	CCDS3332.1																																																																																				0.418	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		26	37	0	0	0	1	0	26	37				
DCAF12L1	139170	broad.mit.edu	37	X	125685777	125685777	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:125685777C>T	ENST00000371126.1	-	1	1057	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTTCTTGCCGCCGCAGGC	0.642																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(814-816)gGc>gAc		DDB1 and CUL4 associated factor 12-like 1							43.0	43.0	43.0					X																	125685777		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685777C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.815G>A	X.37:g.125685777C>T	ENSP00000360167:p.Gly272Asp						p.G272D	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1057	-			272					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.815G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.950845	0.00475	.	.	ENSG00000198889	ENST00000371126	T	0.62788	0.0	3.54	-3.0	0.05480	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.671673	0.12369	N	0.474933	T	0.50309	0.1608	L	0.54323	1.7	0.19575	N	0.999968	B	0.10296	0.003	B	0.10450	0.005	T	0.34800	-0.9814	10	0.54805	T	0.06	.	5.9439	0.19207	0.0:0.3273:0.3807:0.292	.	272	Q5VU92	DC121_HUMAN	D	272	ENSP00000360167:G272D	ENSP00000360167:G272D	G	-	2	0	DCAF12L1	125513458	0.715000	0.27946	0.000000	0.03702	0.073000	0.16967	0.856000	0.27818	-1.474000	0.01879	-2.167000	0.00324	GGC		0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		11	5	0	0	0	1	0	11	5				
AK8	158067	broad.mit.edu	37	9	135702253	135702253	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135702253C>T	ENST00000298545.3	-	8	1266	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	249	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGTAGAAGACGTCCACACAT	0.547																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(745-747)Gtc>Atc		adenylate kinase 8							132.0	114.0	120.0					9																	135702253		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702253C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.745G>A	9.37:g.135702253C>T	ENSP00000298545:p.Val249Ile					AK8_ENST00000477396.1_5'UTR	p.V249I	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			8	1266	-			249					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.745G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169707	0.78452	.	.	ENSG00000165695	ENST00000298545	T	0.46819	0.86	5.13	5.13	0.70059	.	0.059881	0.64402	D	0.000004	T	0.49847	0.1581	L	0.52759	1.655	0.43156	D	0.994935	D	0.54964	0.969	P	0.46253	0.509	T	0.52734	-0.8536	10	0.45353	T	0.12	-43.5785	17.5823	0.87972	0.0:1.0:0.0:0.0	.	249	Q96MA6	KAD8_HUMAN	I	249	ENSP00000298545:V249I	ENSP00000298545:V249I	V	-	1	0	AK8	134692074	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.268000	0.58883	2.392000	0.81423	0.462000	0.41574	GTC		0.547	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		27	53	0	0	0	1	0	27	53				
PER1	5187	broad.mit.edu	37	17	8050579	8050579	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8050579G>A	ENST00000317276.4	-	13	1855	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.P524S|PER1_ENST00000581082.1_Missense_Mutation_p.P520S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	540					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCGCAGGAGGCCCAGGCCCC	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1618-1620)Cct>Tct	Other conserved DNA damage response genes	period circadian clock 1							29.0	21.0	23.0					17																	8050579		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8050579G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1618C>T	17.37:g.8050579G>A	ENSP00000314420:p.Pro540Ser					PER1_ENST00000354903.5_Missense_Mutation_p.P524S|PER1_ENST00000581082.1_Missense_Mutation_p.P520S	p.P540S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			13	1855	-			540					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.1618C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.448011	0.43429	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.35048	2.72;1.33	4.43	4.43	0.53597	.	0.363922	0.26119	N	0.026224	T	0.50633	0.1627	L	0.46157	1.445	0.38780	D	0.954755	B;D	0.69078	0.11;0.997	B;D	0.75484	0.057;0.986	T	0.51490	-0.8699	10	0.46703	T	0.11	-12.0412	12.7243	0.57162	0.0:0.0:1.0:0.0	.	524;540	B4DI49;O15534	.;PER1_HUMAN	S	540;524	ENSP00000314420:P540S;ENSP00000346979:P524S	ENSP00000314420:P540S	P	-	1	0	PER1	7991304	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.551000	0.60740	2.461000	0.83175	0.551000	0.68910	CCT		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			3	5	0	0	0	1	0	3	5				
SH2D5	400745	broad.mit.edu	37	1	21052532	21052532	+	Missense_Mutation	SNP	G	G	A	rs201137078		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21052532G>A	ENST00000444387.2	-	5	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	SH2D5_ENST00000375031.1_Missense_Mutation_p.R7C|SH2D5_ENST00000460804.1_Intron	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	91										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGTATGCGCCTCAGGGCA	0.647																																						ENST00000375031.1																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(19-21)Cgc>Tgc		SH2 domain containing 5		G	CYS/ARG,CYS/ARG	0,4332		0,0,2166	31.0	42.0	39.0		19,271	4.5	1.0	1		39	1,8545		0,1,4272	yes	missense,missense	SH2D5	NM_001103160.1,NM_001103161.1	180,180	0,1,6438	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	7/340,91/424	21052532	1,12877	2166	4273	6439	SO:0001583	missense	400745							g.chr1:21052532G>A	AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.271C>T	1.37:g.21052532G>A	ENSP00000406026:p.Arg91Cys					SH2D5_ENST00000444387.2_Missense_Mutation_p.R91C|SH2D5_ENST00000460804.1_Intron	p.R7C	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	643	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	7					B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	ENST00000444387.2	37	c.19C>T	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867075	0.91511	0.0	1.17E-4	ENSG00000189410	ENST00000375031;ENST00000444387;ENST00000447746;ENST00000518294;ENST00000517430	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.54	4.54	0.55810	.	0.142022	0.48286	D	0.000183	T	0.61009	0.2313	L	0.57536	1.79	0.58432	D	0.999999	D	0.76494	0.999	P	0.61003	0.882	T	0.64833	-0.6314	10	0.87932	D	0	.	14.5256	0.67887	0.0:0.0:1.0:0.0	.	91	Q6ZV89	SH2D5_HUMAN	C	7;91;84;91;91	ENSP00000364171:R7C;ENSP00000406026:R91C;ENSP00000408509:R84C;ENSP00000428153:R91C;ENSP00000428656:R91C	ENSP00000364171:R7C	R	-	1	0	SH2D5	20925119	0.995000	0.38212	1.000000	0.80357	0.710000	0.40934	2.288000	0.43514	2.537000	0.85549	0.555000	0.69702	CGC		0.647	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	XM_375698		5	0	0	0	0	1	0	5	0				
CACNA1A	773	broad.mit.edu	37	19	13372388	13372388	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13372388C>T	ENST00000360228.5	-	26	4125	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1377					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTTGAAGACGTTTTTAAGT	0.522																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4126-4128)Gtc>Atc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						57.0	56.0	57.0					19																	13372388		2078	4204	6282	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13372388C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4126G>A	19.37:g.13372388C>T	ENSP00000353362:p.Val1376Ile					CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	p.V1376I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		26	4125	-			1377					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4126G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094267	0.56075	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98060	-4.69	4.17	4.17	0.49024	Ion transport (1);	0.087480	0.46145	D	0.000318	D	0.96920	0.8994	N	0.17564	0.495	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.985;0.974;0.989	D	0.97476	1.0044	10	0.48119	T	0.1	.	15.2662	0.73663	0.0:1.0:0.0:0.0	.	1377;1380;1376	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	1376;1380;1377;1377	ENSP00000353362:V1376I	ENSP00000317661:V1377I	V	-	1	0	CACNA1A	13233388	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	7.757000	0.85209	1.884000	0.54569	0.561000	0.74099	GTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	8	0	0	0	1	0	3	8				
BAIAP3	8938	broad.mit.edu	37	16	1391167	1391167	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1391167C>T	ENST00000324385.5	+	7	769	c.611C>T	c.(610-612)gCc>gTc	p.A204V	BAIAP3_ENST00000397488.2_Missense_Mutation_p.A186V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A186V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A146V|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A169V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A169V|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A141V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	204	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCATGCGTGCCAAGAACCTT	0.682																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(610-612)gCc>gTc		BAI1-associated protein 3							62.0	59.0	60.0					16																	1391167		2198	4300	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1391167C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.611C>T	16.37:g.1391167C>T	ENSP00000324510:p.Ala204Val					BAIAP3_ENST00000426824.3_Missense_Mutation_p.A169V|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A186V|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A141V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A186V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A169V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A146V	p.A204V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			7	769	+		Hepatocellular(780;0.0893)	204			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.611C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411828	0.62511	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	D;D;D;D;T	0.88354	-2.37;-2.37;-2.37;-2.37;0.02	4.86	3.87	0.44632	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.131649	0.49916	D	0.000136	D	0.93664	0.7976	M	0.81497	2.545	0.51482	D	0.999924	P;D;P;P;D	0.76494	0.819;0.999;0.907;0.907;0.964	B;D;P;P;P	0.73380	0.412;0.98;0.735;0.735;0.753	D	0.93969	0.7247	10	0.87932	D	0	-31.2323	11.9889	0.53163	0.1744:0.8256:0.0:0.0	.	169;221;146;204;186	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	V	169;186;204;186;169	ENSP00000407242:A169V;ENSP00000380625:A186V;ENSP00000324510:A204V;ENSP00000380626:A186V;ENSP00000409533:A169V	ENSP00000324510:A204V	A	+	2	0	BAIAP3	1331168	1.000000	0.71417	0.989000	0.46669	0.501000	0.33797	2.097000	0.41748	1.207000	0.43291	0.313000	0.20887	GCC		0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			12	17	0	0	0	1	0	12	17				
COL22A1	169044	broad.mit.edu	37	8	139820036	139820036	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139820036C>T	ENST00000303045.6	-	10	1915	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G490D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	490	Collagen-like 1.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCATGGGGCCAGCAACTCC	0.443										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1468-1470)gGc>gAc		collagen, type XXII, alpha 1							116.0	121.0	119.0					8																	139820036		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139820036C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1469G>A	8.37:g.139820036C>T	ENSP00000303153:p.Gly490Asp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G490D	p.G490D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		10	1915	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		490			Collagen-like 1.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1469G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687276	0.48097	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.98362	-4.89;-4.89	4.61	4.61	0.57282	.	0.000000	0.46758	U	0.000267	D	0.99360	0.9775	H	0.98507	4.25	0.49130	D	0.999759	D	0.89917	1.0	D	0.87578	0.998	D	0.98237	1.0486	9	.	.	.	.	13.7328	0.62799	0.0:1.0:0.0:0.0	.	490	Q8NFW1	COMA1_HUMAN	D	490	ENSP00000303153:G490D;ENSP00000387655:G490D	.	G	-	2	0	COL22A1	139889218	1.000000	0.71417	0.936000	0.37596	0.121000	0.20230	3.700000	0.54786	2.520000	0.84964	0.644000	0.83932	GGC		0.443	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		17	46	0	0	0	1	0	17	46				
BTNL2	56244	broad.mit.edu	37	6	32363886	32363886	+	Silent	SNP	G	G	A	rs548150573		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32363886G>A	ENST00000374993.1	-	5	1007	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	BTNL2_ENST00000454136.3_Silent_p.D336D|BTNL2_ENST00000414363.1_Silent_p.D126D|BTNL2_ENST00000374995.3_Silent_p.D242D|BTNL2_ENST00000544175.1_Silent_p.D59D|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Silent_p.D126D|BTNL2_ENST00000429232.2_Silent_p.D243D	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	336	Ig-like V-type 3.					integral component of membrane (GO:0016021)		p.D336D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGTACTGCCCGTCGTCCGAAG	0.493													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20171	0.0		0.0	False		,,,				2504	0.0					ENST00000454136.3																			1	Substitution - coding silent(1)	p.D336D(1)	large_intestine(1)	central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(1006-1008)gaC>gaT		butyrophilin-like 2 (MHC class II associated)							122.0	106.0	112.0					6																	32363886		1510	2709	4219	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32363886G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1008C>T	6.37:g.32363886G>A						BTNL2_ENST00000429232.2_Silent_p.D243D|BTNL2_ENST00000374993.1_Silent_p.D336D|BTNL2_ENST00000374995.3_Silent_p.D242D|BTNL2_ENST00000544175.1_Silent_p.D59D|BTNL2_ENST00000540315.1_Silent_p.D126D|BTNL2_ENST00000414363.1_Silent_p.D126D	p.D336D			Q9UIR0	BTNL2_HUMAN			5	1012	-			336			Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.1008C>T																																																																																					0.493	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		20	38	0	0	0	1	0	20	38				
PDCD6IP	10015	broad.mit.edu	37	3	33877564	33877564	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33877564C>G	ENST00000307296.3	+	8	1240	c.863C>G	c.(862-864)gCa>gGa	p.A288G	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A293G			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	288	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAAACAGTGGCATCTCGCTAT	0.353																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(862-864)gCa>gGa		programmed cell death 6 interacting protein							108.0	111.0	110.0					3																	33877564		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33877564C>G	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.863C>G	3.37:g.33877564C>G	ENSP00000307387:p.Ala288Gly					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A293G	p.A288G			Q8WUM4	PDC6I_HUMAN			8	1240	+			288			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.863C>G	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511916	0.64522	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.18016	2.24;2.24	5.18	5.18	0.71444	BRO1 domain (3);	0.105694	0.64402	D	0.000005	T	0.19087	0.0458	L	0.46157	1.445	0.80722	D	1	B;B;B	0.14805	0.011;0.007;0.004	B;B;B	0.18263	0.021;0.021;0.021	T	0.03933	-1.0991	10	0.23891	T	0.37	-11.6563	18.691	0.91582	0.0:1.0:0.0:0.0	.	69;293;288	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	G	288;293	ENSP00000307387:A288G;ENSP00000411825:A293G	ENSP00000307387:A288G	A	+	2	0	PDCD6IP	33852568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.076000	0.71267	2.407000	0.81776	0.650000	0.86243	GCA		0.353	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			24	41	0	0	0	1	0	24	41				
HOXD3	3232	broad.mit.edu	37	2	177036436	177036436	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036436C>T	ENST00000468418.3	+	4	2823	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	HOXD3_ENST00000249440.3_Missense_Mutation_p.R245W|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.R245W			P31249	HXD3_HUMAN	homeobox D3	245					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTTCCAGAACCGGCGCATGAA	0.637																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(733-735)Cgg>Tgg		homeobox D3							78.0	77.0	77.0					2																	177036436		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036436C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.733C>T	2.37:g.177036436C>T	ENSP00000424734:p.Arg245Trp					HOXD3_ENST00000249440.3_Missense_Mutation_p.R245W|HOXD3_ENST00000410016.1_Missense_Mutation_p.R245W	p.R245W			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	2823	+			245					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.733C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404117	0.62288	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.97831	-4.56;-4.56;-4.56	5.23	2.04	0.26737	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98745	1.0718	10	0.87932	D	0	.	15.6185	0.76787	0.3072:0.6928:0.0:0.0	.	245	P31249	HXD3_HUMAN	W	245	ENSP00000424734:R245W;ENSP00000386498:R245W;ENSP00000249440:R245W	ENSP00000249440:R245W	R	+	1	2	HOXD3	176744682	0.986000	0.35501	0.999000	0.59377	0.997000	0.91878	0.306000	0.19279	0.047000	0.15862	0.462000	0.41574	CGG		0.637	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			21	55	0	0	0	1	0	21	55				
EPDR1	54749	broad.mit.edu	37	7	37988562	37988562	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:37988562C>T	ENST00000199448.4	+	2	769	c.390C>T	c.(388-390)aaC>aaT	p.N130N	EPDR1_ENST00000476620.1_Silent_p.N28N|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Silent_p.N250N|EPDR1_ENST00000425345.1_Silent_p.N69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	130					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TTCCTCAAAACTCCACCTTTG	0.512																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(388-390)aaC>aaT		ependymin related 1							122.0	112.0	116.0					7																	37988562		2203	4300	6503	SO:0001819	synonymous_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988562C>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.390C>T	7.37:g.37988562C>T						EPDR1_ENST00000559325.1_Silent_p.N250N|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Silent_p.N69N|EPDR1_ENST00000476620.1_Silent_p.N28N	p.N130N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	769	+			130					A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	c.390C>T	CCDS5454.2																																																																																				0.512	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		18	39	0	0	0	1	0	18	39				
JPH3	57338	broad.mit.edu	37	16	87677941	87677941	+	Missense_Mutation	SNP	G	G	A	rs146321235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87677941G>A	ENST00000284262.2	+	2	702	c.460G>A	c.(460-462)Gcg>Acg	p.A154T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	154					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGCATGGCCGCGGTCATCCG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		16588	0.0		0.001	False		,,,				2504	0.0					ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(460-462)Gcg>Acg		junctophilin 3		G	THR/ALA	1,4391	2.1+/-5.4	0,1,2195	51.0	53.0	53.0		460	5.0	0.9	16	dbSNP_134	53	2,8592	2.2+/-6.3	0,2,4295	yes	missense	JPH3	NM_020655.2	58	0,3,6490	AA,AG,GG		0.0233,0.0228,0.0231	benign	154/749	87677941	3,12983	2196	4297	6493	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677941G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.460G>A	16.37:g.87677941G>A	ENSP00000284262:p.Ala154Thr						p.A154T	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	702	+			154					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.460G>A	CCDS10962.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	20.2	3.943976	0.73672	2.28E-4	2.33E-4	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.53857	0.6	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.28649	0.875	0.80722	D	1	P	0.42941	0.794	B	0.36808	0.233	T	0.25984	-1.0116	10	0.08837	T	0.75	.	17.3468	0.87311	0.0:0.0:1.0:0.0	.	154	Q8WXH2	JPH3_HUMAN	T	17;154	ENSP00000284262:A154T	ENSP00000284262:A154T	A	+	1	0	JPH3	86235442	1.000000	0.71417	0.873000	0.34254	0.876000	0.50452	3.243000	0.51392	2.334000	0.79466	0.462000	0.41574	GCG		0.697	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			27	34	0	0	0	1	0	27	34				
REV3L	5980	broad.mit.edu	37	6	111685066	111685066	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111685066G>A	ENST00000358835.3	-	17	7323	c.6869C>T	c.(6868-6870)gCt>gTt	p.A2290V	REV3L_ENST00000368802.3_Missense_Mutation_p.A2290V|REV3L_ENST00000368805.1_Missense_Mutation_p.A2290V|REV3L_ENST00000435970.1_Missense_Mutation_p.A2212V|REV3L-IT1_ENST00000411895.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2290					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCATGTAAAGCTTTTGCCTC	0.338								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6634-6636)gCt>gTt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							175.0	158.0	164.0					6																	111685066		2203	4299	6502	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111685066G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6869C>T	6.37:g.111685066G>A	ENSP00000351697:p.Ala2290Val					REV3L_ENST00000358835.3_Missense_Mutation_p.A2290V|REV3L_ENST00000368805.1_Missense_Mutation_p.A2290V|REV3L_ENST00000368802.3_Missense_Mutation_p.A2290V	p.A2212V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	18	7451	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2290					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.6635C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469334	0.84533	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.26	5.26	0.73747	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.069019	0.56097	D	0.000025	T	0.07052	0.0179	N	0.19112	0.55	0.43287	D	0.995263	P	0.42296	0.775	P	0.48089	0.566	T	0.23547	-1.0185	10	0.52906	T	0.07	-5.3338	15.2665	0.73666	0.0:0.1406:0.8594:0.0	.	2290	O60673	DPOLZ_HUMAN	V	2290;2290;2290;2212;363	ENSP00000357792:A2290V;ENSP00000357795:A2290V;ENSP00000351697:A2290V;ENSP00000402003:A2212V	ENSP00000351697:A2290V	A	-	2	0	REV3L	111791759	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.124000	0.77185	2.467000	0.83353	0.557000	0.71058	GCT		0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		12	28	0	0	0	1	0	12	28				
CDC27	996	broad.mit.edu	37	17	45235647	45235647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45235647C>A	ENST00000066544.3	-	5	493	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.G73*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Nonsense_Mutation_p.G134*|RP5-867C24.4_ENST00000574021.1_RNA|CDC27_ENST00000531206.1_Nonsense_Mutation_p.G134*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	134					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CATTCTGATCCTTTGGCAAGC	0.388																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(400-402)Gga>Tga		cell division cycle 27							37.0	39.0	38.0					17																	45235647		2203	4300	6503	SO:0001587	stop_gained	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45235647C>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.400G>T	17.37:g.45235647C>A	ENSP00000066544:p.Gly134*					CDC27_ENST00000446365.2_Nonsense_Mutation_p.G73*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Nonsense_Mutation_p.G134*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.G134*	p.G134*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			5	493	-			134					G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.400G>T	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.398648|5.398648	0.96030|0.96030	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77226	.|0.4099	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79448	.|-0.1799	.|4	0.87932|0.87932	D|D	0|0	-16.6032|-16.6032	17.2195|17.2195	0.86953|0.86953	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	134;134;73;134;134|84	.|.	ENSP00000066544:G134X|ENSP00000432211:K84N	G|K	-|-	1|3	0|2	CDC27|CDC27	42590646|42590646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	6.861000|6.861000	0.75478|0.75478	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GGA|AAG		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			14	28	1	0	0.000308642	1	0.000314663	14	28				
ERAP1	51752	broad.mit.edu	37	5	96119711	96119711	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96119711C>T	ENST00000443439.2	-	14	2083	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	ERAP1_ENST00000296754.3_Missense_Mutation_p.V673M|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	673					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CCTTGAAACACGGGCATAATT	0.383																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(2017-2019)Gtg>Atg		endoplasmic reticulum aminopeptidase 1							116.0	110.0	112.0					5																	96119711		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96119711C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2017G>A	5.37:g.96119711C>T	ENSP00000406304:p.Val673Met					ERAP1_ENST00000514604.1_5'UTR|ERAP1_ENST00000443439.2_Missense_Mutation_p.V673M	p.V673M	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	14	2274	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	673					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.2017G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136403	0.77662	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06528	3.29;3.29	5.83	4.95	0.65309	.	0.463064	0.22445	N	0.059980	T	0.21761	0.0524	M	0.73962	2.25	0.42532	D	0.993045	D;D;D	0.76494	0.986;0.999;0.999	B;D;D	0.68039	0.288;0.955;0.939	T	0.00619	-1.1641	10	0.48119	T	0.1	.	11.2604	0.49080	0.0:0.8473:0.0:0.1527	.	673;673;673	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	M	673	ENSP00000296754:V673M;ENSP00000406304:V673M	ENSP00000296754:V673M	V	-	1	0	ERAP1	96145467	0.958000	0.32768	0.789000	0.31954	0.900000	0.52787	2.171000	0.42453	1.443000	0.47586	0.650000	0.86243	GTG		0.383	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		21	34	0	0	0	1	0	21	34				
ULK3	25989	broad.mit.edu	37	15	75134652	75134652	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75134652T>C	ENST00000440863.2	-	2	303	c.212A>G	c.(211-213)cAt>cGt	p.H71R	ULK3_ENST00000568667.1_Missense_Mutation_p.H82R|ULK3_ENST00000569437.1_Missense_Mutation_p.H71R	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						AATGTGGGGATGTCGAATGCC	0.557																																						ENST00000440863.2																			0				breast(2)	2						c.(211-213)cAt>cGt		unc-51 like kinase 3							149.0	146.0	147.0					15																	75134652		2006	4170	6176	SO:0001583	missense	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134652T>C	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.212A>G	15.37:g.75134652T>C	ENSP00000400312:p.His71Arg					ULK3_ENST00000568667.1_Missense_Mutation_p.H82R|ULK3_ENST00000569437.1_Missense_Mutation_p.H71R	p.H71R	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN			2	303	-			71			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	c.212A>G	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483988	0.84854	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.78481	-1.18	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91610	0.7349	H	0.96365	3.81	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.982	D	0.94080	0.7343	10	0.87932	D	0	-13.9814	14.4989	0.67707	0.0:0.0:0.0:1.0	.	82;71;71	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	R	71;82	ENSP00000400312:H71R	ENSP00000393658:H82R	H	-	2	0	ULK3	72921705	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.996000	0.70639	2.020000	0.59435	0.533000	0.62120	CAT		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518		27	28	0	0	0	1	0	27	28				
DHX34	9704	broad.mit.edu	37	19	47876928	47876928	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47876928G>A	ENST00000328771.4	+	9	2384	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	679					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCGACTGTACGAAATGGCCAA	0.612																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2035-2037)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 34							69.0	56.0	60.0					19																	47876928		2202	4300	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876928G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2035G>A	19.37:g.47876928G>A	ENSP00000331907:p.Glu679Lys						p.E679K	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	9	2384	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	679					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.2035G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450870	0.96205	.	.	ENSG00000134815	ENST00000328771	T	0.03330	3.97	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000007	T	0.16257	0.0391	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00325	-1.1816	10	0.49607	T	0.09	-36.7225	17.0766	0.86588	0.0:0.0:1.0:0.0	.	679	Q14147	DHX34_HUMAN	K	679	ENSP00000331907:E679K	ENSP00000331907:E679K	E	+	1	0	DHX34	52568728	1.000000	0.71417	0.974000	0.42286	0.752000	0.42762	8.478000	0.90428	2.328000	0.79073	0.561000	0.74099	GAA		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		5	12	0	0	0	1	0	5	12				
MIER1	57708	broad.mit.edu	37	1	67411867	67411867	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67411867T>A	ENST00000355356.3	+	3	218	c.69T>A	c.(67-69)gaT>gaA	p.D23E	MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.D40E|MIER1_ENST00000401042.3_Missense_Mutation_p.D23E|MIER1_ENST00000357692.2_Missense_Mutation_p.D40E|MIER1_ENST00000401041.1_Missense_Mutation_p.D76E|MIER1_ENST00000371016.1_Missense_Mutation_p.D40E|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Missense_Mutation_p.D40E|MIER1_ENST00000371014.1_Missense_Mutation_p.D76E	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	23					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATGAATTTGATCCATCAGCTG	0.343																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(118-120)gaT>gaA		mesoderm induction early response 1, transcriptional regulator							118.0	107.0	111.0					1																	67411867		1849	4091	5940	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67411867T>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.69T>A	1.37:g.67411867T>A	ENSP00000347514:p.Asp23Glu					MIER1_ENST00000371018.3_Missense_Mutation_p.D40E|MIER1_ENST00000371014.1_Missense_Mutation_p.D76E|MIER1_ENST00000401041.1_Missense_Mutation_p.D76E|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Missense_Mutation_p.D23E|MIER1_ENST00000371012.2_Missense_Mutation_p.D40E|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Missense_Mutation_p.D23E|MIER1_ENST00000371016.1_Missense_Mutation_p.D40E	p.D40E	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			5	377	+			47					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.120T>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285523	0.40394	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000371012;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.24	2.93	0.34026	.	0.213099	0.47093	D	0.000250	T	0.03263	0.0095	N	0.04508	-0.205	0.80722	D	1	B;B;B;B;B;B;B	0.19935	0.02;0.009;0.006;0.04;0.016;0.034;0.019	B;B;B;B;B;B;B	0.20384	0.02;0.011;0.016;0.026;0.024;0.029;0.029	T	0.26916	-1.0089	10	0.19590	T	0.45	-67.8302	4.8487	0.13526	0.0:0.2617:0.1542:0.5841	.	40;40;23;23;40;76;76	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;.;.	E	44;40;40;76;40;76;40;23;23	ENSP00000360057:D40E;ENSP00000350321:D40E;ENSP00000383820:D76E;ENSP00000360055:D40E;ENSP00000360053:D76E;ENSP00000360051:D40E;ENSP00000383821:D23E;ENSP00000347514:D23E	ENSP00000347514:D23E	D	+	3	2	MIER1	67184455	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.401000	0.20948	0.950000	0.37743	-0.256000	0.11100	GAT		0.343	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		31	47	0	0	0	1	0	31	47				
MYBL2	4605	broad.mit.edu	37	20	42320929	42320929	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42320929C>T	ENST00000217026.4	+	6	760	c.633C>T	c.(631-633)ggC>ggT	p.G211G	MYBL2_ENST00000396863.4_Silent_p.G187G	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	211					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAAGGACGGCCTCCAGAGTG	0.547																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(631-633)ggC>ggT		v-myb avian myeloblastosis viral oncogene homolog-like 2							72.0	74.0	74.0					20																	42320929		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42320929C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.633C>T	20.37:g.42320929C>T						MYBL2_ENST00000396863.4_Silent_p.G187G	p.G211G	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	760	+		Myeloproliferative disorder(115;0.00452)	211					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.633C>T	CCDS13322.1																																																																																				0.547	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		21	27	0	0	0	1	0	21	27				
MYO1B	4430	broad.mit.edu	37	2	192261212	192261212	+	Missense_Mutation	SNP	C	C	T	rs546152958	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192261212C>T	ENST00000392318.3	+	21	2531	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	MYO1B_ENST00000339514.4_Missense_Mutation_p.R762W|MYO1B_ENST00000439065.2_Missense_Mutation_p.R36W|MYO1B_ENST00000304164.4_Missense_Mutation_p.R762W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R762W	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	762	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTCTTATATCCGGGGTTGGAA	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		18844	0.0		0.0	False		,,,				2504	0.0031					ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2284-2286)Cgg>Tgg		myosin IB							135.0	135.0	135.0					2																	192261212		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192261212C>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2284C>T	2.37:g.192261212C>T	ENSP00000376132:p.Arg762Trp					MYO1B_ENST00000339514.4_Missense_Mutation_p.R762W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R762W|MYO1B_ENST00000304164.4_Missense_Mutation_p.R762W|MYO1B_ENST00000439065.2_Missense_Mutation_p.R36W	p.R762W	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		21	2531	+			762			IQ 3.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2284C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708836	0.68615	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.67	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.92317	3.295	0.49051	D	0.999742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90800	0.4693	10	0.87932	D	0	.	10.8018	0.46493	0.3187:0.6813:0.0:0.0	.	36;762;762	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	W	762;762;762;762;36	ENSP00000341903:R762W;ENSP00000376132:R762W;ENSP00000306382:R762W;ENSP00000376130:R762W;ENSP00000391442:R36W	ENSP00000306382:R762W	R	+	1	2	MYO1B	191969457	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.715000	0.25822	2.667000	0.90743	0.655000	0.94253	CGG		0.393	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		37	70	0	0	0	1	0	37	70				
BOD1L1	259282	broad.mit.edu	37	4	13615222	13615222	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:13615222G>A	ENST00000040738.5	-	5	1373	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	413	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGTCACTGGTATGAACAGA	0.368																																						ENST00000040738.5																			0											c.(1237-1239)aCc>aTc		biorientation of chromosomes in cell division 1-like 1							115.0	107.0	110.0					4																	13615222		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13615222G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1238C>T	4.37:g.13615222G>A	ENSP00000040738:p.Thr413Ile						p.T413I	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			5	1373	-			413			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.1238C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011402	0.93346	.	.	ENSG00000038219	ENST00000040738	T	0.22336	1.96	5.18	5.18	0.71444	.	0.000000	0.43260	D	0.000589	T	0.48390	0.1497	M	0.70275	2.135	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	T	0.46062	-0.9218	10	0.56958	D	0.05	-5.4087	19.0179	0.92901	0.0:0.0:1.0:0.0	.	413	Q8NFC6	BOD1L_HUMAN	I	413	ENSP00000040738:T413I	ENSP00000040738:T413I	T	-	2	0	BOD1L	13224320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.410000	0.97335	2.573000	0.86826	0.591000	0.81541	ACC		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		28	33	0	0	0	1	0	28	33				
ARHGAP5	394	broad.mit.edu	37	14	32561826	32561826	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:32561826G>A	ENST00000345122.3	+	2	2266	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A651T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A651T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A651T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	651					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GTTATGGACTGCCGCCTTTAA	0.388																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1951-1953)Gcc>Acc		Rho GTPase activating protein 5							130.0	129.0	129.0					14																	32561826		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561826G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1951G>A	14.37:g.32561826G>A	ENSP00000371897:p.Ala651Thr					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.A651T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.A651T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.A651T	p.A651T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2266	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		651					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1951G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	0.118	-1.129490	0.01756	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.72	3.9	0.45041	.	0.315534	0.38272	N	0.001755	T	0.03011	0.0089	N	0.03608	-0.345	0.30376	N	0.78245	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.37079	-0.9721	10	0.10111	T	0.7	.	6.1862	0.20498	0.1531:0.0:0.6092:0.2378	.	651;651	Q13017-2;Q13017	.;RHG05_HUMAN	T	651	ENSP00000452222:A651T;ENSP00000441692:A651T;ENSP00000371897:A651T;ENSP00000393307:A651T	ENSP00000371897:A651T	A	+	1	0	ARHGAP5	31631577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.945000	0.29056	0.881000	0.35993	0.650000	0.86243	GCC		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		27	77	0	0	0	1	0	27	77				
NDRG1	10397	broad.mit.edu	37	8	134276793	134276793	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:134276793T>C	ENST00000414097.2	-	4	1069	c.202A>G	c.(202-204)Aac>Gac	p.N68D	NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.N68D|NDRG1_ENST00000323851.7_Missense_Mutation_p.N68D|NDRG1_ENST00000522476.1_Missense_Mutation_p.N2D|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	68					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACTTACGGTTCATGCCGATG	0.572			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(202-204)Aac>Gac		N-myc downstream regulated 1							145.0	122.0	130.0					8																	134276793		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134276793T>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.202A>G	8.37:g.134276793T>C	ENSP00000404854:p.Asn68Asp					NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.N2D|NDRG1_ENST00000323851.7_Missense_Mutation_p.N68D|NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.N68D	p.N68D	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	1069	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		68					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.202A>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841133	0.91197	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738;ENST00000523892	T;T;T;T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53823	-0.8384	10	0.56958	D	0.05	.	14.5418	0.67999	0.0:0.0:0.0:1.0	.	68	Q92597	NDRG1_HUMAN	D	68;68;68;2;85;2;68;68;68;79;68;122;2	ENSP00000319977:N68D;ENSP00000347028:N68D;ENSP00000404854:N68D;ENSP00000427894:N2D;ENSP00000428345:N85D;ENSP00000428802:N2D;ENSP00000429994:N68D;ENSP00000429272:N68D;ENSP00000428384:N68D;ENSP00000429840:N79D;ENSP00000429524:N68D;ENSP00000428991:N122D;ENSP00000430171:N2D	ENSP00000319977:N68D	N	-	1	0	NDRG1	134345975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.119000	0.64992	0.459000	0.35465	AAC		0.572	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			16	30	0	0	0	1	0	16	30				
ANAPC1	64682	broad.mit.edu	37	2	112545823	112545823	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112545823C>A	ENST00000341068.3	-	39	5559	c.4787G>T	c.(4786-4788)aGc>aTc	p.S1596I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGTCAGTGCTGTGAGCTGG	0.433																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(4786-4788)aGc>aTc		anaphase promoting complex subunit 1							18.0	16.0	17.0					2																	112545823		2200	4290	6490	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112545823C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4787G>T	2.37:g.112545823C>A	ENSP00000339109:p.Ser1596Ile						p.S1596I	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			39	5559	-			1596					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.4787G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769622|4.769622	0.90020|0.90020	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|T	.|0.26373	.|1.74	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.45657|0.45657	0.1353|0.1353	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.68192	.|0.956	T|T	0.25779|0.25779	-1.0122|-1.0122	5|10	.|0.24483	.|T	.|0.36	-10.2589|-10.2589	17.7013|17.7013	0.88295|0.88295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1596	.|Q9H1A4	.|APC1_HUMAN	H|I	1130|1596	.|ENSP00000339109:S1596I	.|ENSP00000339109:S1596I	Q|S	-|-	3|2	2|0	ANAPC1|ANAPC1	112262294|112262294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.554000|7.554000	0.82212|0.82212	2.242000|2.242000	0.73789|0.73789	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	17	1	0	2.7689e-08	1	2.91998e-08	4	17				
KRT3	3850	broad.mit.edu	37	12	53187986	53187986	+	Missense_Mutation	SNP	G	G	A	rs201818737		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53187986G>A	ENST00000417996.2	-	2	849	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	KRT3_ENST00000309505.3_Missense_Mutation_p.R259W	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGGTAGCTCCGCAGGTAGTTG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22279	0.0		0.0	False		,,,				2504	0.0					ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(775-777)Cgg>Tgg		keratin 3		G	TRP/ARG	0,4372		0,0,2186	162.0	179.0	173.0		775	2.8	0.0	12		173	1,8591	1.2+/-3.3	0,1,4295	no	missense	KRT3	NM_057088.2	101	0,1,6481	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	259/629	53187986	1,12963	2186	4296	6482	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187986G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.775C>T	12.37:g.53187986G>A	ENSP00000413479:p.Arg259Trp					KRT3_ENST00000309505.3_Missense_Mutation_p.R259W	p.R259W	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			2	849	-			259			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.775C>T	CCDS44895.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.96	2.985984	0.53934	0.0	1.16E-4	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.93019	-3.15;-3.15	4.69	2.8	0.32819	Filament (1);	0.000000	0.42420	D	0.000715	D	0.96405	0.8827	M	0.93241	3.395	0.36217	D	0.851739	D	0.60575	0.988	P	0.54856	0.762	D	0.98860	1.0762	10	0.72032	D	0.01	.	13.9315	0.63998	0.0:0.0:0.4454:0.5545	.	259	P12035	K2C3_HUMAN	W	259	ENSP00000413479:R259W;ENSP00000312206:R259W	ENSP00000312206:R259W	R	-	1	2	KRT3	51474253	0.000000	0.05858	0.009000	0.14445	0.821000	0.46438	0.153000	0.16323	0.673000	0.31224	-0.181000	0.13052	CGG		0.537	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		27	98	0	0	0	1	0	27	98				
TRIOBP	11078	broad.mit.edu	37	22	38165309	38165309	+	Missense_Mutation	SNP	G	G	A	rs554837585		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38165309G>A	ENST00000406386.3	+	21	7031	c.6776G>A	c.(6775-6777)cGc>cAc	p.R2259H	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R546H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2259					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACCAGCTGCGCGGCTTCATT	0.667													.|||	1	0.000199681	0.0	0.0014	5008	,	,		19550	0.0		0.0	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6775-6777)cGc>cAc		TRIO and F-actin binding protein							16.0	19.0	18.0					22																	38165309		2000	4160	6160	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165309G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6776G>A	22.37:g.38165309G>A	ENSP00000384312:p.Arg2259His					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R546H|RP1-37E16.12_ENST00000455236.1_RNA	p.R2259H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			21	7031	+	Melanoma(58;0.0574)		2259					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6776G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703521	0.68501	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T;T	0.26373	1.74;1.96	4.96	3.94	0.45596	.	.	.	.	.	T	0.42562	0.1208	L	0.47716	1.5	0.47476	D	0.999435	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.991	T	0.33828	-0.9853	9	0.87932	D	0	.	12.6912	0.56976	0.08:0.0:0.92:0.0	.	2161;248;546;2259	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	H	2259;546	ENSP00000384312:R2259H;ENSP00000386026:R546H	ENSP00000386026:R546H	R	+	2	0	TRIOBP	36495255	1.000000	0.71417	0.976000	0.42696	0.214000	0.24535	5.017000	0.64047	2.320000	0.78422	0.462000	0.41574	CGC		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	8	0	0	0	1	0	7	8				
EXOC3	11336	broad.mit.edu	37	5	466873	466873	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:466873C>T	ENST00000512944.1	+	13	2287	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C	EXOC3_ENST00000315013.5_Missense_Mutation_p.R700C|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	711					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCTGGCTGTGCGTGGGGACGC	0.642																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(2098-2100)Cgt>Tgt		exocyst complex component 3							36.0	44.0	42.0					5																	466873		2194	4287	6481	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:466873C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2098C>T	5.37:g.466873C>T	ENSP00000425587:p.Arg700Cys					EXOC3_ENST00000315013.5_Missense_Mutation_p.R700C|CTD-2228K2.5_ENST00000510714.1_Intron	p.R700C	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2287	+		Ovarian(839;0.0563)	711					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.2098C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489812	0.44249	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.29397	1.57;1.57	5.25	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59852	-0.7376	10	0.87932	D	0	-9.1337	9.8061	0.40795	0.3443:0.6557:0.0:0.0	.	711	O60645	EXOC3_HUMAN	C	700;700;595	ENSP00000425587:R700C;ENSP00000323377:R700C	ENSP00000323377:R700C	R	+	1	0	EXOC3	519873	0.999000	0.42202	0.215000	0.23724	0.290000	0.27261	1.412000	0.34714	2.471000	0.83476	0.305000	0.20034	CGT		0.642	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		6	12	0	0	0	1	0	6	12				
MATN4	8785	broad.mit.edu	37	20	43932934	43932934	+	Missense_Mutation	SNP	C	C	T	rs202071474	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43932934C>T	ENST00000372754.1	-	2	585	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.V193I|MATN4_ENST00000372756.1_Missense_Mutation_p.V193I|MATN4_ENST00000353917.5_Missense_Mutation_p.V193I|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.V193I|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.V193I			O95460	MATN4_HUMAN	matrilin 4	193	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGAGGAAGACGTGCTCGTCT	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		16902	0.0		0.001	False		,,,				2504	0.001					ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(577-579)Gtc>Atc		matrilin 4							45.0	43.0	44.0					20																	43932934		2203	4299	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43932934C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.577G>A	20.37:g.43932934C>T	ENSP00000361840:p.Val193Ile					MATN4_ENST00000353917.5_Missense_Mutation_p.V193I|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.V193I|MATN4_ENST00000372754.1_Missense_Mutation_p.V193I|MATN4_ENST00000360607.5_Missense_Mutation_p.V193I|MATN4_ENST00000372756.1_Missense_Mutation_p.V193I|MATN4_ENST00000372751.4_Intron	p.V193I			O95460	MATN4_HUMAN			4	821	-		Myeloproliferative disorder(115;0.0122)	193			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.577G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.6	4.553663	0.86231	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.81	4.81	0.61882	.	0.000000	0.39834	N	0.001256	D	0.88444	0.6438	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	P;D;D	0.85130	0.863;0.997;0.96	D	0.88372	0.2995	10	0.48119	T	0.1	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	193;193;193	A6NNA4;O95460-4;O95460-2	.;.;.	I	193	ENSP00000361840:V193I;ENSP00000361842:V193I;ENSP00000243983:V193I;ENSP00000353819:V193I;ENSP00000343164:V193I;ENSP00000440328:V193I	ENSP00000255132:V193I	V	-	1	0	MATN4	43366348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	2.506000	0.84524	0.462000	0.41574	GTC		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			12	21	0	0	0	1	0	12	21				
VWA8	23078	broad.mit.edu	37	13	42460072	42460072	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42460072G>A	ENST00000379310.3	-	8	1027	c.959C>T	c.(958-960)gCt>gTt	p.A320V	VWA8_ENST00000281496.6_Missense_Mutation_p.A320V	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	320						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTGAACCGCAGCTGCTAAACT	0.358																																						ENST00000379310.3																			0											c.(958-960)gCt>gTt		von Willebrand factor A domain containing 8							45.0	45.0	45.0					13																	42460072		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42460072G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.959C>T	13.37:g.42460072G>A	ENSP00000368612:p.Ala320Val					VWA8_ENST00000281496.6_Missense_Mutation_p.A320V	p.A320V	NM_015058.1	NP_055873.1					8	1027	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.959C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987556	0.35036	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.11712	2.94;2.75	5.38	1.03	0.20045	.	0.386356	0.23103	N	0.051887	T	0.09423	0.0232	L	0.44542	1.39	0.25763	N	0.984923	B	0.12013	0.005	B	0.14578	0.011	T	0.24693	-1.0153	10	0.34782	T	0.22	.	10.6349	0.45558	0.0:0.1181:0.4974:0.3845	.	320	A3KMH1	K0564_HUMAN	V	224;320;320;320	ENSP00000368612:A320V;ENSP00000281496:A320V	ENSP00000251030:A224V	A	-	2	0	KIAA0564	41358072	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.144000	0.64832	0.589000	0.29677	-0.169000	0.13324	GCT		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		14	23	0	0	0	1	0	14	23				
ZNF479	90827	broad.mit.edu	37	7	57188283	57188283	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:57188283C>T	ENST00000331162.4	-	5	1109	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCTGAGGAGCGCCTAAAGGC	0.463																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(838-840)cGc>cAc		zinc finger protein 479							35.0	36.0	36.0					7																	57188283		2087	4228	6315	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188283C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.839G>A	7.37:g.57188283C>T	ENSP00000333776:p.Arg280His						p.R280H	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1109	-			280						Missense_Mutation	SNP	ENST00000331162.4	37	c.839G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.013	-1.638305	0.00799	.	.	ENSG00000185177	ENST00000331162	T	0.36340	1.26	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21177	-1.0253	9	0.20519	T	0.43	.	5.8017	0.18417	0.0:0.4092:0.0:0.5908	.	280	Q96JC4	ZN479_HUMAN	H	280	ENSP00000333776:R280H	ENSP00000333776:R280H	R	-	2	0	ZNF479	57192225	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.090000	0.00609	-1.769000	0.01297	-1.780000	0.00649	CGC		0.463	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		24	32	0	0	0	1	0	24	32				
FAM135B	51059	broad.mit.edu	37	8	139323133	139323133	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139323133C>T	ENST00000395297.1	-	3	278	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	36										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTTGAAGACACCTTCAAGG	0.507										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(106-108)gtG>gtA		family with sequence similarity 135, member B							83.0	79.0	80.0					8																	139323133		1968	4145	6113	SO:0001819	synonymous_variant	51059							g.chr8:139323133C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.108G>A	8.37:g.139323133C>T		HNSCC(54;0.14)					p.V36V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	278	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		36					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.108G>A	CCDS6375.2																																																																																				0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		29	53	0	0	0	1	0	29	53				
CAMK4	814	broad.mit.edu	37	5	110819782	110819782	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110819782G>T	ENST00000282356.4	+	11	1438	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V	CAMK4_ENST00000512453.1_Missense_Mutation_p.G347V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	347					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGCAGCCATGGCAGCATCCAG	0.537																																						ENST00000282356.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1039-1041)gGc>gTc		calcium/calmodulin-dependent protein kinase IV							41.0	43.0	42.0					5																	110819782		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819782G>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1040G>T	5.37:g.110819782G>T	ENSP00000282356:p.Gly347Val					CAMK4_ENST00000512453.1_Missense_Mutation_p.G347V|CAMK4_ENST00000512890.1_3'UTR	p.G347V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	11	1438	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	347					D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.1040G>T	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251895	0.39797	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.68479	-0.33;-0.33	5.65	1.63	0.23807	Protein kinase-like domain (1);	0.712511	0.13970	N	0.350248	T	0.46367	0.1389	N	0.14661	0.345	0.21604	N	0.999625	B	0.28713	0.22	B	0.25140	0.058	T	0.22417	-1.0217	10	0.27785	T	0.31	.	11.6002	0.50997	0.0665:0.3818:0.5516:0.0	.	347	Q16566	KCC4_HUMAN	V	347	ENSP00000422634:G347V;ENSP00000282356:G347V	ENSP00000282356:G347V	G	+	2	0	CAMK4	110847681	0.931000	0.31567	0.035000	0.18076	0.959000	0.62525	1.533000	0.36040	0.272000	0.22027	0.467000	0.42956	GGC		0.537	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		13	22	1	0	4.3838e-07	1	4.58243e-07	13	22				
PILRA	29992	broad.mit.edu	37	7	99971888	99971888	+	Missense_Mutation	SNP	C	C	T	rs369623040		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99971888C>T	ENST00000198536.2	+	2	498	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	PILRA_ENST00000350573.2_Missense_Mutation_p.R96W|PILRA_ENST00000453419.1_Missense_Mutation_p.R96W|PILRA_ENST00000394000.2_Missense_Mutation_p.R96W|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	96	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTATGTGAACCGGCTCTTTCT	0.547																																						ENST00000198536.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(286-288)Cgg>Tgg		paired immunoglobin-like type 2 receptor alpha		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	105.0	102.0		286,286,286	3.4	0.0	7		102	0,8600		0,0,4300	no	missense,missense,missense	PILRA	NM_013439.2,NM_178272.1,NM_178273.1	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	96/304,96/231,96/176	99971888	1,13005	2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971888C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.286C>T	7.37:g.99971888C>T	ENSP00000198536:p.Arg96Trp					PILRA_ENST00000394000.2_Missense_Mutation_p.R96W|PILRA_ENST00000453419.1_Missense_Mutation_p.R96W|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.R96W	p.R96W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN			2	498	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96			Ig-like V-type.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.286C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098942	0.56183	2.27E-4	0.0	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	3.38	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000909	T	0.44222	0.1283	L	0.60067	1.865	0.09310	N	1	D;P;P;P;B	0.59357	0.985;0.917;0.898;0.894;0.254	P;P;B;B;B	0.54060	0.741;0.467;0.337;0.347;0.034	T	0.23691	-1.0181	9	.	.	.	.	10.5254	0.44945	0.0:1.0:0.0:0.0	.	96;96;96;96;96	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	W	96	ENSP00000415111:R96W;ENSP00000198536:R96W;ENSP00000390026:R96W;ENSP00000377569:R96W;ENSP00000340109:R96W	.	R	+	1	2	PILRA	99809824	0.044000	0.20184	0.048000	0.18961	0.003000	0.03518	1.676000	0.37565	2.205000	0.71048	0.313000	0.20887	CGG		0.547	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		31	72	0	0	0	1	0	31	72				
TBC1D10A	83874	broad.mit.edu	37	22	30691820	30691820	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30691820A>G	ENST00000215790.7	-	4	594	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S18P|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S56P|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S151P	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	144	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCCCCAGGGGACATGTCCAGC	0.627																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(430-432)Tcc>Ccc		TBC1 domain family, member 10A							47.0	40.0	42.0					22																	30691820		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691820A>G	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.430T>C	22.37:g.30691820A>G	ENSP00000215790:p.Ser144Pro					RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S18P|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S56P|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S151P	p.S144P	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			4	594	-			144			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.430T>C	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.237210	0.39498	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.63	3.58	0.41010	Rab-GAP/TBC domain (4);	0.402385	0.28156	N	0.016384	T	0.15955	0.0384	L	0.56124	1.755	0.28601	N	0.909176	B;B;B;B	0.23540	0.037;0.036;0.037;0.087	B;B;B;B	0.34346	0.116;0.18;0.116;0.167	T	0.19582	-1.0301	10	0.34782	T	0.22	.	1.8226	0.03114	0.5661:0.1759:0.0896:0.1684	.	144;151;144;144	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	P	18;144;151;56;56	ENSP00000401535:S18P;ENSP00000215790:S144P;ENSP00000384996:S151P;ENSP00000385050:S56P;ENSP00000377484:S56P	ENSP00000331267:S5P	S	-	1	0	TBC1D10A;RP1-130H16.18	29021820	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.692000	0.47018	0.888000	0.36160	0.533000	0.62120	TCC		0.627	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		5	6	0	0	0	1	0	5	6				
TDRD6	221400	broad.mit.edu	37	6	46660982	46660982	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46660982C>A	ENST00000316081.6	+	1	5117	c.5117C>A	c.(5116-5118)gCt>gAt	p.A1706D	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1706D	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1706					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTAAAAGTGCTCTTCCCTAT	0.318																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5116-5118)gCt>gAt		tudor domain containing 6							30.0	35.0	33.0					6																	46660982		2168	4285	6453	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660982C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5117C>A	6.37:g.46660982C>A	ENSP00000346065:p.Ala1706Asp					TDRD6_ENST00000316081.6_Missense_Mutation_p.A1706D	p.A1706D	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5371	+			1706					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5117C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888018	0.02511	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11712	2.76;2.75	5.36	0.044	0.14224	.	1.260040	0.05149	N	0.495605	T	0.00608	0.0020	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41734	-0.9492	10	0.06365	T	0.9	-9.9272	1.1738	0.01831	0.5251:0.1618:0.1699:0.1432	.	1706;1706	F5H5M3;O60522	.;TDRD6_HUMAN	D	1706	ENSP00000443299:A1706D;ENSP00000346065:A1706D	ENSP00000346065:A1706D	A	+	2	0	TDRD6	46768941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.463000	0.21972	-0.121000	0.11787	-1.193000	0.01689	GCT		0.318	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		17	51	1	0	1.99824e-07	1	2.09433e-07	17	51				
PYCRL	65263	broad.mit.edu	37	8	144687917	144687917	+	Missense_Mutation	SNP	C	C	T	rs557266207		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144687917C>T	ENST00000220966.6	-	6	843	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Missense_Mutation_p.A123T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	260					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCCTCCACGGCGCTCATGGTG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.001		0.0	False		,,,				2504	0.0					ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(814-816)Gcc>Acc		pyrroline-5-carboxylate reductase-like							29.0	32.0	31.0					8																	144687917		2198	4297	6495	SO:0001583	missense	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144687917C>T	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.814G>A	8.37:g.144687917C>T	ENSP00000220966:p.Ala272Thr					PYCRL_ENST00000377579.3_Missense_Mutation_p.A123T|PYCRL_ENST00000495276.1_5'UTR	p.A272T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	843	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		260					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	ENST00000220966.6	37	c.814G>A	CCDS6407.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931520	0.73442	.	.	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.89343	-2.5;-2.5;-2.5	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, C-terminal-like (1);	.	.	.	.	D	0.94118	0.8114	M	0.75884	2.315	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94816	0.7983	9	0.87932	D	0	.	16.8619	0.86020	0.0:1.0:0.0:0.0	.	272;260	D3DWK4;Q53H96	.;P5CR3_HUMAN	T	272;123;247	ENSP00000220966:A272T;ENSP00000366802:A123T;ENSP00000404493:A247T	ENSP00000220966:A272T	A	-	1	0	PYCRL	144759060	1.000000	0.71417	0.605000	0.28930	0.302000	0.27658	5.933000	0.70130	2.336000	0.79503	0.561000	0.74099	GCC		0.682	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		7	13	0	0	0	1	0	7	13				
FKBP10	60681	broad.mit.edu	37	17	39974444	39974444	+	Silent	SNP	C	C	T	rs139989453		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39974444C>T	ENST00000321562.4	+	3	599	c.495C>T	c.(493-495)ccC>ccT	p.P165P	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	165					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCGCCCGCCCCACTGCCCCC	0.622																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(493-495)ccC>ccT		FK506 binding protein 10, 65 kDa		C		1,4405	2.1+/-5.4	0,1,2202	63.0	59.0	61.0		495	0.5	0.9	17	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	FKBP10	NM_021939.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		165/583	39974444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974444C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.495C>T	17.37:g.39974444C>T							p.P165P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	3	599	+		Breast(137;0.00122)	165					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.495C>T	CCDS11409.1																																																																																				0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		19	24	0	0	0	1	0	19	24				
FAM83F	113828	broad.mit.edu	37	22	40417440	40417440	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40417440G>T	ENST00000333407.6	+	4	1020	c.926G>T	c.(925-927)aGg>aTg	p.R309M	FAM83F_ENST00000473717.1_Missense_Mutation_p.R141M	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	309										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGGCGGGCAGGGTTGGCCTC	0.617																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(925-927)aGg>aTg		family with sequence similarity 83, member F							90.0	92.0	92.0					22																	40417440		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417440G>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.926G>T	22.37:g.40417440G>T	ENSP00000330432:p.Arg309Met					FAM83F_ENST00000473717.1_3'UTR	p.R309M	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1020	+			309					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.926G>T	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152188	0.09185	.	.	ENSG00000133477	ENST00000333407	T	0.09073	3.02	3.59	2.55	0.30701	.	1.031430	0.07713	N	0.942414	T	0.06645	0.0170	L	0.32530	0.975	0.09310	N	1	P	0.40476	0.718	B	0.36186	0.219	T	0.34229	-0.9837	10	0.44086	T	0.13	-12.9057	4.9042	0.13789	0.1417:0.0:0.6449:0.2135	.	309	Q8NEG4	FA83F_HUMAN	M	309	ENSP00000330432:R309M	ENSP00000330432:R309M	R	+	2	0	FAM83F	38747386	0.246000	0.23909	0.003000	0.11579	0.059000	0.15707	1.613000	0.36900	1.060000	0.40578	0.511000	0.50034	AGG		0.617	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		5	82	1	0	0.184627	1	0.185007	5	82				
RHBG	57127	broad.mit.edu	37	1	156348053	156348053	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156348053C>T	ENST00000368249.1	+	4	574	c.536C>T	c.(535-537)gCc>gTc	p.A179V	RHBG_ENST00000368246.2_Missense_Mutation_p.A179V|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Missense_Mutation_p.A147V|RHBG_ENST00000255013.3_Missense_Mutation_p.A110V|RHBG_ENST00000451864.2_Missense_Mutation_p.A147V	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	179					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTGAGAGATGCCGGAGGCTCC	0.662																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(439-441)gCc>gTc		Rh family, B glycoprotein (gene/pseudogene)							61.0	68.0	66.0					1																	156348053		2046	4221	6267	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156348053C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.536C>T	1.37:g.156348053C>T	ENSP00000357232:p.Ala179Val					RHBG_ENST00000255013.3_Missense_Mutation_p.A110V|RHBG_ENST00000451864.2_Missense_Mutation_p.A147V|RHBG_ENST00000368246.2_Missense_Mutation_p.A179V|RHBG_ENST00000368249.1_Missense_Mutation_p.A179V|RHBG_ENST00000537040.1_Intron	p.A147V			Q9H310	RHBG_HUMAN			4	808	+	Hepatocellular(266;0.158)		179					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.440C>T		.	.	.	.	.	.	.	.	.	.	C	8.962	0.970885	0.18659	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.68	4.68	0.58851	Ammonium transporter AmtB-like (3);	0.110302	0.64402	D	0.000011	T	0.15305	0.0369	L	0.38649	1.16	0.58432	D	0.999993	P;P;B	0.52061	0.822;0.95;0.103	B;P;B	0.57846	0.423;0.828;0.029	T	0.02868	-1.1100	10	0.08837	T	0.75	-19.5048	12.948	0.58384	0.0:0.8356:0.1644:0.0	.	179;147;216	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	V	179;179;147;110;147	ENSP00000357232:A179V;ENSP00000357229:A179V;ENSP00000383777:A147V;ENSP00000255013:A110V;ENSP00000389836:A147V	ENSP00000255013:A110V	A	+	2	0	RHBG	154614677	0.998000	0.40836	0.929000	0.37066	0.384000	0.30261	3.911000	0.56378	2.415000	0.81967	0.511000	0.50034	GCC		0.662	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		23	42	0	0	0	1	0	23	42				
DOCK4	9732	broad.mit.edu	37	7	111387340	111387340	+	Missense_Mutation	SNP	C	C	T	rs199527812		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111387340C>T	ENST00000437633.1	-	42	4805	c.4549G>A	c.(4549-4551)Gtt>Att	p.V1517I	DOCK4_ENST00000494651.2_Missense_Mutation_p.V400I|DOCK4_ENST00000428084.1_Missense_Mutation_p.V1526I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1517	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACCTGGAAACGCCACCATTA	0.383																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4576-4578)Gtt>Att		dedicator of cytokinesis 4		C	ILE/VAL	0,3968		0,0,1984	98.0	94.0	95.0		4549	5.3	0.9	7		95	1,8351		0,1,4175	yes	missense	DOCK4	NM_014705.3	29	0,1,6159	TT,TC,CC		0.012,0.0,0.0081	benign	1517/1967	111387340	1,12319	1984	4176	6160	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111387340C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4549G>A	7.37:g.111387340C>T	ENSP00000404179:p.Val1517Ile					DOCK4_ENST00000437633.1_Missense_Mutation_p.V1517I|DOCK4_ENST00000494651.2_Missense_Mutation_p.V400I	p.V1526I			Q8N1I0	DOCK4_HUMAN			43	4848	-		Acute lymphoblastic leukemia(1;0.0441)	1517			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.4576G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189594	0.09547	0.0	1.2E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	T;T;T	0.18174	2.23;2.23;2.23	5.27	5.27	0.74061	.	0.061432	0.64402	D	0.000003	T	0.06325	0.0163	N	0.01015	-1.05	0.41016	D	0.985042	B;B;B;B;B	0.18610	0.016;0.024;0.029;0.029;0.024	B;B;B;B;B	0.23150	0.008;0.007;0.044;0.02;0.005	T	0.27536	-1.0071	10	0.02654	T	1	.	19.0847	0.93198	0.0:1.0:0.0:0.0	.	424;400;1562;1517;1526	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	I	1505;1526;400;1517;1514	ENSP00000410746:V1526I;ENSP00000440944:V400I;ENSP00000404179:V1517I	ENSP00000345432:V1514I	V	-	1	0	DOCK4	111174576	0.998000	0.40836	0.861000	0.33841	0.940000	0.58332	3.216000	0.51176	2.748000	0.94277	0.655000	0.94253	GTT		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	14	0	0	0	1	0	7	14				
CCHCR1	54535	broad.mit.edu	37	6	31112527	31112527	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31112527G>A	ENST00000376266.5	-	15	1959	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666W|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R702W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTTGCTCCCGCAGCCGAGTT	0.602																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2104-2106)Cgg>Tgg		coiled-coil alpha-helical rod protein 1							141.0	146.0	145.0					6																	31112527		2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112527G>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1837C>T	6.37:g.31112527G>A	ENSP00000365442:p.Arg613Trp					CCHCR1_ENST00000376266.5_Missense_Mutation_p.R613W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560W	p.R702W	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			15	2292	-			613					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2104C>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415693	0.62511	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.96	3.11	0.35812	.	0.910388	0.09123	N	0.845437	T	0.12008	0.0292	M	0.67953	2.075	0.26631	N	0.97247	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.991;0.971;0.983;0.984	T	0.17410	-1.0370	10	0.72032	D	0.01	-13.0498	5.8283	0.18566	0.1005:0.0:0.7084:0.191	.	613;613;613;666;702	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	W	702;613;560;613;666	ENSP00000379566:R702W;ENSP00000365442:R613W;ENSP00000379561:R560W;ENSP00000401039:R666W	ENSP00000365442:R613W	R	-	1	2	CCHCR1	31220506	0.992000	0.36948	0.456000	0.27044	0.851000	0.48451	2.162000	0.42367	0.466000	0.27193	0.448000	0.29417	CGG		0.602	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		70	93	0	0	0	1	0	70	93				
PID1	55022	broad.mit.edu	37	2	229890687	229890687	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890687G>A	ENST00000354069.6	-	3	444	c.414C>T	c.(412-414)atC>atT	p.I138I	PID1_ENST00000392054.3_Silent_p.I136I|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000392055.3_Silent_p.I105I			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	138	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAATGGCCGGATTTCCAGGA	0.567																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(406-408)atC>atT		phosphotyrosine interaction domain containing 1							94.0	91.0	92.0					2																	229890687		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890687G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.414C>T	2.37:g.229890687G>A						PID1_ENST00000409462.1_Silent_p.I56I|PID1_ENST00000392055.3_Silent_p.I105I|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Silent_p.I138I	p.I136I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	747	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	138			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.408C>T																																																																																					0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		13	21	0	0	0	1	0	13	21				
TREX2	11219	broad.mit.edu	37	X	152713217	152713217	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152713217C>T	ENST00000334497.2	-	10	1225	c.84G>A	c.(82-84)acG>acA	p.T28T	TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000370231.2_5'Flank|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000370232.1_Silent_p.T28T|TREX2_ENST00000414588.1_Missense_Mutation_p.R12H|TREX2_ENST00000402951.1_Silent_p.T28T|HAUS7_ENST00000484394.1_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	28					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGCACAACGTGGGGCTGC	0.587								Editing and processing nucleases																														ENST00000414588.1																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(34-36)cGt>cAt	Editing and processing nucleases	three prime repair exonuclease 2							275.0	254.0	260.0					X																	152713217		876	1991	2867	SO:0001819	synonymous_variant	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152713217C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.84G>A	X.37:g.152713217C>T						TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_Silent_p.T28T|TREX2_ENST00000370232.1_Silent_p.T28T|TREX2_ENST00000402951.1_Silent_p.T28T|HAUS7_ENST00000370219.3_3'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000330912.2_5'UTR	p.R12H			Q9BQ50	TREX2_HUMAN			1	104	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.35G>A		.	.	.	.	.	.	.	.	.	.	C	9.351	1.065574	0.20067	.	.	ENSG00000183479	ENST00000414588	T	0.52526	0.66	0.372	0.372	0.16173	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.09310	N	1	D	0.60160	0.987	B	0.35312	0.2	T	0.21690	-1.0238	7	0.87932	D	0	.	.	.	.	.	12	Q06S70	.	H	12	ENSP00000401692:R12H	ENSP00000401692:R12H	R	-	2	0	TREX2	152366411	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.305000	0.02738	0.417000	0.25871	0.419000	0.28159	CGT		0.587	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		76	13	0	0	0	1	0	76	13				
ALPK2	115701	broad.mit.edu	37	18	56274580	56274580	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:56274580C>A	ENST00000361673.3	-	3	414	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	67	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATGAATATACTGATTCTCAA	0.398																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(199-201)caG>caT		alpha-kinase 2							111.0	107.0	108.0					18																	56274580		1906	4126	6032	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274580C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.201G>T	18.37:g.56274580C>A	ENSP00000354991:p.Gln67His						p.Q67H	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			3	414	-			67			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.201G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817493	0.32145	.	.	ENSG00000198796	ENST00000361673	T	0.29142	1.58	5.9	0.0586	0.14328	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18087	0.0434	L	0.35644	1.08	0.25354	N	0.988842	B	0.31790	0.34	B	0.33196	0.159	T	0.27297	-1.0078	9	0.15066	T	0.55	-5.9887	2.2435	0.04025	0.1196:0.4497:0.1167:0.314	.	67	Q86TB3	ALPK2_HUMAN	H	67	ENSP00000354991:Q67H	ENSP00000354991:Q67H	Q	-	3	2	ALPK2	54425560	0.935000	0.31712	0.749000	0.31150	0.215000	0.24574	-0.269000	0.08596	-0.283000	0.09115	-0.189000	0.12847	CAG		0.398	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		39	59	1	0	2.40579e-17	1	2.64746e-17	39	59				
ZNF598	90850	broad.mit.edu	37	16	2048469	2048469	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2048469G>A	ENST00000563630.1	-	12	2556	c.2314C>T	c.(2314-2316)Ctc>Ttc	p.L772F	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.L772F|ZNF598_ENST00000431526.1_Missense_Mutation_p.L827F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	827							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCAGACAGGAGCTCCTGCTGC	0.587																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(2314-2316)Ctc>Ttc		zinc finger protein 598							34.0	38.0	37.0					16																	2048469		1921	4131	6052	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2048469G>A	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2314C>T	16.37:g.2048469G>A	ENSP00000455882:p.Leu772Phe					ZNF598_ENST00000431526.1_Missense_Mutation_p.L827F|ZNF598_ENST00000562103.1_Missense_Mutation_p.L772F	p.L772F			Q86UK7	ZN598_HUMAN			12	2556	-			827					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.2314C>T		.	.	.	.	.	.	.	.	.	.	.	19.99	3.929186	0.73327	.	.	ENSG00000167962	ENST00000431526	T	0.56103	0.48	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83314	-0.0021	10	0.87932	D	0	-16.8598	16.936	0.86203	0.0:0.0:1.0:0.0	.	827;819	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	F	827	ENSP00000411409:L827F	ENSP00000411409:L827F	L	-	1	0	ZNF598	1988470	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	8.979000	0.93455	2.472000	0.83506	0.462000	0.41574	CTC		0.587	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		25	32	0	0	0	1	0	25	32				
TP53BP1	7158	broad.mit.edu	37	15	43749072	43749072	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43749072C>A	ENST00000263801.3	-	12	1971	c.1719G>T	c.(1717-1719)caG>caT	p.Q573H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q578H|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q578H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	573					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCACCATCCTGTGCTGGAT	0.418								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1717-1719)caG>caT	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							175.0	153.0	160.0					15																	43749072		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43749072C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1719G>T	15.37:g.43749072C>A	ENSP00000263801:p.Gln573His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q578H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q578H	p.Q573H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	1971	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	573					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1719G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739670	0.30774	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.04	-0.543	0.11851	.	0.736359	0.12856	N	0.433502	T	0.57242	0.2040	M	0.70595	2.14	0.09310	N	1	D;P;D;D	0.57899	0.981;0.956;0.974;0.974	P;P;P;P	0.51135	0.635;0.564;0.66;0.66	T	0.52465	-0.8572	10	0.48119	T	0.1	-0.4179	9.8729	0.41187	0.0:0.3749:0.0:0.6251	.	578;573;578;578	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	573;578;578;578;578	ENSP00000263801:Q573H;ENSP00000371475:Q578H;ENSP00000371470:Q578H;ENSP00000393497:Q578H;ENSP00000388028:Q578H	ENSP00000263801:Q573H	Q	-	3	2	TP53BP1	41536364	0.181000	0.23161	0.638000	0.29380	0.498000	0.33706	-0.537000	0.06128	-0.052000	0.13311	0.563000	0.77884	CAG		0.418	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			33	54	1	0	1.61788e-16	1	1.77753e-16	33	54				
BTBD2	55643	broad.mit.edu	37	19	1987589	1987589	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1987589C>T	ENST00000255608.4	-	6	1107	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	364						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCAGCAGCGGGGCCGGTC	0.652																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1090-1092)cGc>cAc		BTB (POZ) domain containing 2							51.0	43.0	46.0					19																	1987589		2203	4299	6502	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987589C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1091G>A	19.37:g.1987589C>T	ENSP00000255608:p.Arg364His						p.R364H	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_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)	6	1107	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	364					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1091G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.596466	0.66332	.	.	ENSG00000133243	ENST00000255608	D	0.82893	-1.66	4.21	3.17	0.36434	.	0.052373	0.85682	N	0.000000	T	0.80824	0.4697	M	0.81179	2.53	0.58432	D	0.999994	P	0.41498	0.752	B	0.34779	0.189	T	0.82194	-0.0578	10	0.87932	D	0	-30.4761	11.2189	0.48842	0.0:0.9098:0.0:0.0902	.	364	Q9BX70	BTBD2_HUMAN	H	364	ENSP00000255608:R364H	ENSP00000255608:R364H	R	-	2	0	BTBD2	1938589	1.000000	0.71417	0.942000	0.38095	0.972000	0.66771	5.660000	0.68018	0.977000	0.38444	0.556000	0.70494	CGC		0.652	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			4	14	0	0	0	1	0	4	14				
KCTD18	130535	broad.mit.edu	37	2	201369584	201369584	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201369584C>T	ENST00000359878.3	-	3	769	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	KCTD18_ENST00000409157.1_Missense_Mutation_p.A87T|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	87					protein homooligomerization (GO:0051260)			p.A87T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCTGTAGGGCGATGCGGGTT	0.433																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.A87T(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(259-261)Gcc>Acc		potassium channel tetramerization domain containing 18							117.0	97.0	103.0					2																	201369584		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201369584C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.259G>A	2.37:g.201369584C>T	ENSP00000352941:p.Ala87Thr					KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.A87T	p.A87T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			3	769	-			87					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.259G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929486	0.92389	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000003	D	0.84520	0.5490	L	0.39397	1.21	0.46564	D	0.999104	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.83560	0.0106	10	0.49607	T	0.09	-18.8688	19.5069	0.95121	0.0:1.0:0.0:0.0	.	87;87	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	T	87	ENSP00000352941:A87T;ENSP00000386751:A87T	ENSP00000352941:A87T	A	-	1	0	KCTD18	201077829	1.000000	0.71417	0.974000	0.42286	0.758000	0.43043	5.790000	0.69038	2.941000	0.99782	0.655000	0.94253	GCC		0.433	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		27	29	0	0	0	1	0	27	29				
PODXL2	50512	broad.mit.edu	37	3	127388016	127388016	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127388016C>T	ENST00000342480.6	+	6	1435	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	466					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTTCCATGCTGGGTGACAT	0.572																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1396-1398)Ctg>Ttg		podocalyxin-like 2							78.0	67.0	71.0					3																	127388016		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127388016C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1396C>T	3.37:g.127388016C>T							p.L466L	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			6	1435	+			466					Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1396C>T	CCDS3044.1																																																																																				0.572	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		4	10	0	0	0	1	0	4	10				
CCDC87	55231	broad.mit.edu	37	11	66359023	66359023	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66359023G>A	ENST00000333861.3	-	1	1531	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	488					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGTAGTACTGCCAACAAAGT	0.473																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1462-1464)ggC>ggT		coiled-coil domain containing 87							110.0	109.0	109.0					11																	66359023		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359023G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1464C>T	11.37:g.66359023G>A							p.G488G	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1531	-			488					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1464C>T	CCDS8145.1																																																																																				0.473	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		55	93	0	0	0	1	0	55	93				
CARD14	79092	broad.mit.edu	37	17	78156559	78156559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78156559C>T	ENST00000573882.1	+	5	855	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CARD14_ENST00000570421.1_Nonsense_Mutation_p.Q107*|CARD14_ENST00000392434.2_5'Flank|CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q107*			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	107	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CACCGGGCTGCAGCCTGATGT	0.572																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(319-321)Cag>Tag		caspase recruitment domain family, member 14							135.0	102.0	113.0					17																	78156559		2203	4300	6503	SO:0001587	stop_gained	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78156559C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.319C>T	17.37:g.78156559C>T	ENSP00000458715:p.Gln107*					CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q107*|CARD14_ENST00000570421.1_Nonsense_Mutation_p.Q107*	p.Q107*			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	855	+	all_neural(118;0.0952)		107			CARD.		B8QQJ3|Q9BVB5	Nonsense_Mutation	SNP	ENST00000573882.1	37	c.319C>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839881	0.71488	.	.	ENSG00000141527	ENST00000344227	.	.	.	4.11	3.09	0.35607	.	0.191742	0.43747	D	0.000525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.7892	9.1235	0.36801	0.0:0.607:0.393:0.0	.	.	.	.	X	107	.	ENSP00000344549:Q107X	Q	+	1	0	CARD14	75771154	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	3.740000	0.55082	1.839000	0.53478	0.591000	0.81541	CAG		0.572	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			17	30	0	0	0	1	0	17	30				
AHNAK	79026	broad.mit.edu	37	11	62291032	62291032	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62291032G>A	ENST00000378024.4	-	5	11131	c.10857C>T	c.(10855-10857)ggC>ggT	p.G3619G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3619					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACTTCAGGGCCTTCTCCTT	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10855-10857)ggC>ggT		AHNAK nucleoprotein							203.0	208.0	206.0					11																	62291032		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291032G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10857C>T	11.37:g.62291032G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G3619G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11131	-		Melanoma(852;0.155)	3619					A1A586	Silent	SNP	ENST00000378024.4	37	c.10857C>T	CCDS31584.1																																																																																				0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	235	0	0	0	1	0	46	235				
DCAF11	80344	broad.mit.edu	37	14	24589002	24589002	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24589002C>T	ENST00000446197.3	+	11	1716	c.989C>T	c.(988-990)gCc>gTc	p.A330V	DCAF11_ENST00000396936.1_Missense_Mutation_p.A230V|DCAF11_ENST00000396941.4_Missense_Mutation_p.A304V|DCAF11_ENST00000559115.1_Missense_Mutation_p.A330V|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	330					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGAGATGATGCCATCTGCAAA	0.547																																						ENST00000446197.3																			0											c.(988-990)gCc>gTc		DDB1 and CUL4 associated factor 11							103.0	88.0	93.0					14																	24589002		2203	4300	6503	SO:0001583	missense	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589002C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.989C>T	14.37:g.24589002C>T	ENSP00000415556:p.Ala330Val					DCAF11_ENST00000396941.4_Missense_Mutation_p.A304V|DCAF11_ENST00000559115.1_Missense_Mutation_p.A330V|DCAF11_ENST00000396936.1_Missense_Mutation_p.A230V	p.A330V	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1716	+			330					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.989C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	36	5.753143	0.96890	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01323	5.01;5.01	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	M	0.81942	2.565	0.80722	D	1	D;D;P;D;D	0.76494	0.999;0.996;0.935;0.97;0.997	D;P;P;P;D	0.70016	0.967;0.889;0.723;0.818;0.932	T	0.00254	-1.1874	10	0.51188	T	0.08	-18.6316	17.9218	0.88969	0.0:1.0:0.0:0.0	.	253;304;230;330;330	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	V	330;304;230;304	ENSP00000380142:A230V;ENSP00000380146:A304V	ENSP00000323680:A330V	A	+	2	0	DCAF11	23658842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	GCC		0.547	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			10	18	0	0	0	1	0	10	18				
FAT4	79633	broad.mit.edu	37	4	126371285	126371285	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126371285G>A	ENST00000394329.3	+	9	9127	c.9114G>A	c.(9112-9114)acG>acA	p.T3038T	FAT4_ENST00000335110.5_Silent_p.T1336T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3038	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T3038T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATGATACGGGGTGGATTT	0.373																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.T3038T(2)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9112-9114)acG>acA		FAT atypical cadherin 4							74.0	75.0	75.0					4																	126371285		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371285G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9114G>A	4.37:g.126371285G>A						FAT4_ENST00000335110.5_Silent_p.T1336T	p.T3038T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9127	+			3038			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.9114G>A	CCDS3732.3																																																																																				0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		20	25	0	0	0	1	0	20	25				
PARPBP	55010	broad.mit.edu	37	12	102572527	102572527	+	Missense_Mutation	SNP	C	C	T	rs372409171		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102572527C>T	ENST00000358383.5	+	8	1208	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	PARPBP_ENST00000541394.1_Missense_Mutation_p.T465M|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.T307M|PARPBP_ENST00000392911.2_Missense_Mutation_p.T307M|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	388					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CATCATGGAACGTCTATTCTT	0.328																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(919-921)aCg>aTg		PARP1 binding protein		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	95.0	92.0	93.0		1163	-1.8	0.0	12		93	0,8600		0,0,4300	no	missense	C12orf48	NM_017915.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	388/580	102572527	1,13005	2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102572527C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1163C>T	12.37:g.102572527C>T	ENSP00000351153:p.Thr388Met					PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.T465M|PARPBP_ENST00000392911.2_Missense_Mutation_p.T307M|PARPBP_ENST00000358383.5_Missense_Mutation_p.T388M|PARPBP_ENST00000378128.3_Intron	p.T307M	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			9	1383	+			388					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.920C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	3.653	-0.071125	0.07228	2.27E-4	0.0	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.47869	0.84;0.83;0.84;0.84	5.65	-1.79	0.07932	.	0.795789	0.12564	N	0.457946	T	0.35068	0.0919	L	0.40543	1.245	0.09310	N	1	B;B	0.26975	0.165;0.165	B;B	0.22152	0.038;0.038	T	0.23762	-1.0179	10	0.42905	T	0.14	0.2348	11.4251	0.50004	0.0:0.4265:0.0:0.5735	.	465;388	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	M	307;465;388;307	ENSP00000332915:T307M;ENSP00000440850:T465M;ENSP00000351153:T388M;ENSP00000376643:T307M	ENSP00000332915:T307M	T	+	2	0	C12orf48	101096657	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.487000	0.06505	-0.163000	0.10946	-0.827000	0.03088	ACG		0.328	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		17	33	0	0	0	1	0	17	33				
TSPEAR	54084	broad.mit.edu	37	21	45941817	45941817	+	Silent	SNP	C	C	T	rs150444121		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45941817C>T	ENST00000323084.4	-	9	1580	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	TSPEAR_ENST00000397916.1_Silent_p.S437S|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	505					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGTAGAGGTGCGAGTGCACCT	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		17606	0.0		0.001	False		,,,				2504	0.0					ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1513-1515)tcG>tcA		thrombospondin-type laminin G domain and EAR repeats		C		1,4405	2.1+/-5.4	0,1,2202	132.0	126.0	128.0		1515	-9.5	0.2	21	dbSNP_134	128	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	TSPEAR	NM_144991.2		0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615		505/670	45941817	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45941817C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1515G>A	21.37:g.45941817C>T						C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.S437S	p.S505S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			9	1580	-			505						Silent	SNP	ENST00000323084.4	37	c.1515G>A	CCDS13712.1																																																																																				0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		23	7	0	0	0	1	0	23	7				
CTPS1	1503	broad.mit.edu	37	1	41466749	41466749	+	Missense_Mutation	SNP	G	G	A	rs150289603		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41466749G>A	ENST00000372621.4	+	10	1562	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	CTPS1_ENST00000541520.1_Missense_Mutation_p.V121M|CTPS1_ENST00000372616.1_Missense_Mutation_p.V352M	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						AGAAGAGCCCGTGCGCTACCA	0.507																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1054-1056)Gtg>Atg		CTP synthase 1	L-Glutamine(DB00130)	G	MET/VAL	0,4406		0,0,2203	71.0	66.0	68.0		1054	5.9	0.9	1	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTPS	NM_001905.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	352/592	41466749	1,13005	2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466749G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1054G>A	1.37:g.41466749G>A	ENSP00000361704:p.Val352Met					CTPS1_ENST00000541520.1_Missense_Mutation_p.V121M|CTPS1_ENST00000372616.1_Missense_Mutation_p.V352M	p.V352M	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			10	1562	+			352			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1054G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815378	0.50527	0.0	1.16E-4	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.45276	0.92;0.9;0.92	5.86	5.86	0.93980	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.86028	2.79	0.80722	D	1	D;D	0.76494	0.999;0.977	D;P	0.66716	0.946;0.649	T	0.70831	-0.4765	10	0.52906	T	0.07	.	18.7657	0.91871	0.0:0.0:1.0:0.0	.	121;352	B4DR64;P17812	.;PYRG1_HUMAN	M	352;121;352	ENSP00000361704:V352M;ENSP00000442646:V121M;ENSP00000361699:V352M	ENSP00000361699:V352M	V	+	1	0	CTPS	41239336	1.000000	0.71417	0.889000	0.34880	0.106000	0.19336	7.591000	0.82666	2.776000	0.95493	0.655000	0.94253	GTG		0.507	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		13	19	0	0	0	1	0	13	19				
B3GALNT2	148789	broad.mit.edu	37	1	235622019	235622019	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235622019T>C	ENST00000366600.3	-	8	1145	c.917A>G	c.(916-918)gAa>gGa	p.E306G		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	306					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TAAGGCATCTTCCTCATGGAG	0.383																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(916-918)gAa>gGa		beta-1,3-N-acetylgalactosaminyltransferase 2							107.0	95.0	99.0					1																	235622019		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235622019T>C	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.917A>G	1.37:g.235622019T>C	ENSP00000355559:p.Glu306Gly						p.E306G	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		8	1145	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	306					Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.917A>G	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.301081	0.60195	.	.	ENSG00000162885	ENST00000366600	T	0.61742	0.08	5.39	5.39	0.77823	.	0.099151	0.64402	D	0.000002	T	0.71108	0.3301	M	0.79258	2.445	0.80722	D	1	P	0.48294	0.908	P	0.54706	0.759	T	0.72354	-0.4319	10	0.39692	T	0.17	-22.683	15.4109	0.74917	0.0:0.0:0.0:1.0	.	306	Q8NCR0	B3GL2_HUMAN	G	306	ENSP00000355559:E306G	ENSP00000355559:E306G	E	-	2	0	B3GALNT2	233688642	1.000000	0.71417	0.972000	0.41901	0.014000	0.08584	6.851000	0.75425	2.048000	0.60808	0.533000	0.62120	GAA		0.383	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		8	58	0	0	0	1	0	8	58				
FAT4	79633	broad.mit.edu	37	4	126355544	126355544	+	Missense_Mutation	SNP	C	C	T	rs370391156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126355544C>T	ENST00000394329.3	+	7	7176	c.7163C>T	c.(7162-7164)gCc>gTc	p.A2388V	FAT4_ENST00000335110.5_Missense_Mutation_p.A686V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2388	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGGTAAATGCCTCAGATGCT	0.363																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7162-7164)gCc>gTc		FAT atypical cadherin 4							189.0	164.0	173.0					4																	126355544		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355544C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7163C>T	4.37:g.126355544C>T	ENSP00000377862:p.Ala2388Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A686V	p.A2388V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			7	7176	+			2388			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7163C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411363	0.62399	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.59364	0.27;0.27	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.254138	0.20059	U	0.100137	T	0.64227	0.2579	M	0.72353	2.195	0.42584	D	0.993222	P;P	0.45428	0.688;0.858	B;P	0.46940	0.248;0.532	T	0.70073	-0.4972	10	0.87932	D	0	.	14.1691	0.65497	0.0:0.8505:0.1495:0.0	.	686;2388	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2388;686	ENSP00000377862:A2388V;ENSP00000335169:A686V	ENSP00000335169:A686V	A	+	2	0	FAT4	126574994	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.939000	0.48995	2.596000	0.87737	0.655000	0.94253	GCC		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		35	40	0	0	0	1	0	35	40				
PNCK	139728	broad.mit.edu	37	X	152936838	152936838	+	Intron	SNP	C	C	T	rs182261010		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152936838C>T	ENST00000370150.1	-	7	717				PNCK_ENST00000393831.2_Silent_p.A195A|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370142.1_Silent_p.A195A|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370145.4_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGACAGACGCACGCACAG	0.622													C|||	1	0.000264901	0.0	0.0014	3775	,	,		13019	0.0		0.0	False		,,,				2504	0.0					ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(583-585)gcG>gcA		pregnancy up-regulated nonubiquitous CaM kinase							70.0	71.0	70.0					X																	152936838		2203	4299	6502	SO:0001627	intron_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936838C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.539-23G>A	X.37:g.152936838C>T						PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Silent_p.A195A|PNCK_ENST00000340888.3_Intron	p.A195A	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			7	1019	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		179			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.585G>A																																																																																					0.622	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		17	4	0	0	0	1	0	17	4				
AFF3	3899	broad.mit.edu	37	2	100210199	100210199	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100210199G>A	ENST00000409236.2	-	13	2036	c.1924C>T	c.(1924-1926)Cgc>Tgc	p.R642C	AFF3_ENST00000356421.2_Missense_Mutation_p.R667C|AFF3_ENST00000409579.1_Missense_Mutation_p.R667C|AFF3_ENST00000317233.4_Missense_Mutation_p.R642C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	642					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R667C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACGGAGGAGCGCAGCTCCTTG	0.657																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.R667C(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1924-1926)Cgc>Tgc		AF4/FMR2 family, member 3							45.0	49.0	48.0					2																	100210199		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210199G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1924C>T	2.37:g.100210199G>A	ENSP00000387207:p.Arg642Cys					AFF3_ENST00000409579.1_Missense_Mutation_p.R667C|AFF3_ENST00000356421.2_Missense_Mutation_p.R667C|AFF3_ENST00000409236.1_Missense_Mutation_p.R642C	p.R642C	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2159	-			642					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1924C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493608	0.64186	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.72	4.72	0.59763	.	0.106321	0.39544	N	0.001335	T	0.81264	0.4786	M	0.76328	2.33	0.47476	D	0.999436	D;D;D	0.89917	1.0;0.998;0.999	D;P;P	0.76071	0.987;0.836;0.881	D	0.84040	0.0364	10	0.87932	D	0	.	16.2199	0.82254	0.0:0.0:1.0:0.0	.	795;642;667	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	C	642;667;667;642;642;795;667	ENSP00000317421:R642C;ENSP00000348793:R667C;ENSP00000386834:R667C;ENSP00000387207:R642C	ENSP00000317421:R642C	R	-	1	0	AFF3	99576631	.	.	0.981000	0.43875	0.931000	0.56810	.	.	2.345000	0.79718	0.561000	0.74099	CGC		0.657	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		12	28	0	0	0	1	0	12	28				
NIP7	51388	broad.mit.edu	37	16	69375508	69375508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69375508C>T	ENST00000254940.5	+	5	896	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	COG8_ENST00000562081.1_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Nonsense_Mutation_p.Q119*|COG8_ENST00000306875.4_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	166	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGTATTTCATCAAGCAGACAT	0.468																																						ENST00000254940.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(496-498)Caa>Taa		NIP7, nucleolar pre-rRNA processing protein							143.0	140.0	141.0					16																	69375508		2198	4300	6498	SO:0001587	stop_gained	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69375508C>T	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.496C>T	16.37:g.69375508C>T	ENSP00000254940:p.Gln166*					RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Nonsense_Mutation_p.Q119*|RP11-343C2.9_ENST00000563634.1_Intron	p.Q166*	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN			5	896	+		Ovarian(137;0.101)	166			PUA.		B2RD04|Q9NZZ0	Nonsense_Mutation	SNP	ENST00000254940.5	37	c.496C>T	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140515	0.77775	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.9198	19.6311	0.95701	0.0:1.0:0.0:0.0	.	.	.	.	X	166;119	.	ENSP00000254940:Q166X	Q	+	1	0	NIP7	67933009	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.487000	0.81328	2.710000	0.92621	0.561000	0.74099	CAA		0.468	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101		43	54	0	0	0	1	0	43	54				
GABRA5	2558	broad.mit.edu	37	15	27188527	27188527	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:27188527G>A	ENST00000335625.5	+	10	1931	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D|GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	348					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G348D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACCAAGAGAGGCTGGGCCTGG	0.527																																						ENST00000335625.5																			1	Substitution - Missense(1)	p.G348D(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1042-1044)gGc>gAc		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						33.0	37.0	36.0					15																	27188527		1984	4191	6175	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188527G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1043G>A	15.37:g.27188527G>A	ENSP00000335592:p.Gly348Asp					GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D|GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D	p.G348D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1931	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	348					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1043G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	27.4	4.827546	0.90955	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85258	-1.96;-1.96;-1.96	5.27	5.27	0.74061	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.083751	0.85682	D	0.000000	T	0.82093	0.4962	N	0.12502	0.225	0.50632	D	0.999887	P	0.40909	0.732	P	0.51550	0.673	T	0.80197	-0.1482	10	0.25106	T	0.35	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	348	P31644	GBRA5_HUMAN	D	348	ENSP00000335592:G348D;ENSP00000347557:G348D;ENSP00000382953:G348D	ENSP00000335592:G348D	G	+	2	0	GABRA5	24771273	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.592000	0.98245	2.626000	0.88956	0.651000	0.88453	GGC		0.527	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			6	6	0	0	0	1	0	6	6				
ATRN	8455	broad.mit.edu	37	20	3520965	3520965	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3520965G>A	ENST00000262919.5	+	3	659	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ATRN_ENST00000446916.2_Silent_p.P197P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	197	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTATGCACCGCTAGTTGCTG	0.368																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(589-591)ccG>ccA		attractin							157.0	153.0	154.0					20																	3520965		2203	4300	6503	SO:0001819	synonymous_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3520965G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.591G>A	20.37:g.3520965G>A						ATRN_ENST00000446916.2_Silent_p.P197P	p.P197P	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			3	659	+			197			CUB.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	c.591G>A	CCDS13053.1																																																																																				0.368	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		49	78	0	0	0	1	0	49	78				
SALL1	6299	broad.mit.edu	37	16	51174623	51174623	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:51174623G>A	ENST00000251020.4	-	2	1543	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.P407S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	504					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGATATGAGGGTATTTCTCT	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1219-1221)Cct>Tct		spalt-like transcription factor 1							110.0	105.0	107.0					16																	51174623		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174623G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1510C>T	16.37:g.51174623G>A	ENSP00000251020:p.Pro504Ser					SALL1_ENST00000251020.4_Missense_Mutation_p.P504S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.P407S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1650	-		all_cancers(37;0.0322)	504					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1219C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843010	0.71488	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.12039	2.75;2.72	5.29	5.29	0.74685	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45804	-0.9236	10	0.51188	T	0.08	-14.4214	18.9361	0.92586	0.0:0.0:1.0:0.0	.	504	Q9NSC2	SALL1_HUMAN	S	504;407;468	ENSP00000251020:P504S;ENSP00000407914:P407S	ENSP00000251020:P504S	P	-	1	0	SALL1	49732124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.458000	0.83093	0.563000	0.77884	CCT		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		35	45	0	0	0	1	0	35	45				
CUL7	9820	broad.mit.edu	37	6	43012606	43012606	+	Missense_Mutation	SNP	C	C	T	rs546860134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43012606C>T	ENST00000265348.3	-	16	3141	c.3056G>A	c.(3055-3057)cGc>cAc	p.R1019H	CUL7_ENST00000535468.1_Missense_Mutation_p.R1103H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1019					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGCTCCTGGCGCAGAGCACC	0.597																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3307-3309)cGc>cAc		cullin 7							95.0	91.0	92.0					6																	43012606		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43012606C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3056G>A	6.37:g.43012606C>T	ENSP00000265348:p.Arg1019His					CUL7_ENST00000265348.3_Missense_Mutation_p.R1019H	p.R1103H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		16	3394	-			1019					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3308G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288665	0.59976	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.81415	-1.48;-1.49	5.18	5.18	0.71444	.	0.549193	0.20895	N	0.083750	D	0.83640	0.5298	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.953;0.993;0.99	D	0.84859	0.0818	10	0.59425	D	0.04	-17.3008	9.7096	0.40236	0.0:0.7827:0.141:0.0763	.	1103;1103;1019	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	H	1019;1103	ENSP00000265348:R1019H;ENSP00000438788:R1103H	ENSP00000265348:R1019H	R	-	2	0	CUL7	43120584	0.998000	0.40836	1.000000	0.80357	0.419000	0.31324	1.539000	0.36104	2.422000	0.82143	0.462000	0.41574	CGC		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		29	34	0	0	0	1	0	29	34				
C16orf59	80178	broad.mit.edu	37	16	2510927	2510927	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2510927G>A	ENST00000361837.4	+	4	372	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000569496.1_Missense_Mutation_p.A103T|C16orf59_ENST00000563531.1_Missense_Mutation_p.A103T|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	103										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GAGAGACAAGGCCCCCAGCCT	0.577																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(307-309)Gcc>Acc		chromosome 16 open reading frame 59							78.0	89.0	85.0					16																	2510927		2061	4201	6262	SO:0001583	missense	80178							g.chr16:2510927G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.307G>A	16.37:g.2510927G>A	ENSP00000355022:p.Ala103Thr					C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Missense_Mutation_p.A103T|C16orf59_ENST00000361837.4_Missense_Mutation_p.A103T	p.A103T			Q7L2K0	CP059_HUMAN			4	366	+		Ovarian(90;0.17)	103					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.307G>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957868	0.53400	.	.	ENSG00000162062	ENST00000361837	T	0.44083	0.93	4.68	-0.0306	0.13913	.	0.574206	0.13084	N	0.415081	T	0.23611	0.0571	L	0.38175	1.15	0.09310	N	0.999997	B	0.23891	0.093	B	0.21151	0.033	T	0.25710	-1.0124	10	0.09084	T	0.74	-0.4469	3.5834	0.07962	0.4044:0.1924:0.4033:0.0	.	103	Q7L2K0	CP059_HUMAN	T	103	ENSP00000355022:A103T	ENSP00000355022:A103T	A	+	1	0	C16orf59	2450928	0.002000	0.14202	0.000000	0.03702	0.563000	0.35712	1.326000	0.33735	-0.059000	0.13154	-0.136000	0.14681	GCC		0.577	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		12	28	0	0	0	1	0	12	28				
PEBP4	157310	broad.mit.edu	37	8	22584731	22584731	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572																																						ENST00000256404.6																			1	Substitution - coding silent(1)	p.G120G(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(358-360)ggC>ggT		phosphatidylethanolamine-binding protein 4							53.0	60.0	58.0					8																	22584731		1990	4147	6137	SO:0001819	synonymous_variant	157310					lysosome		g.chr8:22584731G>A	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.360C>T	8.37:g.22584731G>A						RP11-459E5.1_ENST00000523627.1_RNA	p.G120G	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	5	451	-		Prostate(55;0.0453)|Breast(100;0.103)	120					Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	c.360C>T	CCDS43724.1																																																																																				0.572	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		10	6	0	0	0	1	0	10	6				
ZNF683	257101	broad.mit.edu	37	1	26691066	26691066	+	Missense_Mutation	SNP	C	C	T	rs142754209		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26691066C>T	ENST00000436292.1	-	4	1091	c.971G>A	c.(970-972)tGc>tAc	p.C324Y	ZNF683_ENST00000349618.3_Missense_Mutation_p.C324Y|ZNF683_ENST00000374204.1_Missense_Mutation_p.C324Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.C324Y			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	324					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACATATGTTGCACTCGTACAG	0.547																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(970-972)tGc>tAc		zinc finger protein 683		C	TYR/CYS,TYR/CYS	0,4406		0,0,2203	191.0	194.0	193.0		971,971	4.7	1.0	1	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF683	NM_001114759.1,NM_173574.2	194,194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	324/505,324/505	26691066	1,13005	2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691066C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.971G>A	1.37:g.26691066C>T	ENSP00000388792:p.Cys324Tyr					ZNF683_ENST00000374204.1_Missense_Mutation_p.C324Y|ZNF683_ENST00000349618.3_Missense_Mutation_p.C324Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.C324Y	p.C324Y			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	1091	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	324					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.971G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.017879	0.75275	0.0	1.16E-4	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.45518	0.1346	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51364	-0.8715	10	0.87932	D	0	-17.1342	15.0989	0.72256	0.0:1.0:0.0:0.0	.	324;324	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	Y	324	ENSP00000384782:C324Y;ENSP00000388792:C324Y;ENSP00000363320:C324Y;ENSP00000344095:C324Y	ENSP00000344095:C324Y	C	-	2	0	ZNF683	26563653	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	7.251000	0.78297	2.414000	0.81942	0.561000	0.74099	TGC		0.547	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		69	112	0	0	0	1	0	69	112				
COL5A2	1290	broad.mit.edu	37	2	189906341	189906341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:189906341G>A	ENST00000374866.3	-	50	3878	c.3604C>T	c.(3604-3606)Cga>Tga	p.R1202*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1202					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACTGCCTCGTACACCTGGA	0.483																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3604-3606)Cga>Tga		collagen, type V, alpha 2							145.0	142.0	143.0					2																	189906341		2203	4300	6503	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189906341G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3604C>T	2.37:g.189906341G>A	ENSP00000364000:p.Arg1202*						p.R1202*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		50	3878	-			1202					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.3604C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	43	10.399719	0.99398	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.56	4.64	0.57946	.	0.000000	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4911	0.75605	0.0:0.0:0.8092:0.1908	.	.	.	.	X	1202;842	.	ENSP00000364000:R1202X	R	-	1	2	COL5A2	189614586	0.995000	0.38212	0.993000	0.49108	0.907000	0.53573	2.135000	0.42112	2.781000	0.95711	0.650000	0.86243	CGA		0.483	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		15	71	0	0	0	1	0	15	71				
USP24	23358	broad.mit.edu	37	1	55562659	55562659	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55562659C>T	ENST00000294383.6	-	49	5901	c.5902G>A	c.(5902-5904)Gca>Aca	p.A1968T	USP24_ENST00000407756.1_Missense_Mutation_p.A1808T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1968	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGTGGCCTGCGTGTGCCTGC	0.517																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5902-5904)Gca>Aca		ubiquitin specific peptidase 24							75.0	76.0	76.0					1																	55562659		2107	4239	6346	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55562659C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5902G>A	1.37:g.55562659C>T	ENSP00000294383:p.Ala1968Thr					USP24_ENST00000407756.1_Missense_Mutation_p.A1808T	p.A1968T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			49	5901	-			1968					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5902G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	36	5.757716	0.96898	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.30182	1.54;1.54	6.17	6.17	0.99709	.	0.046797	0.85682	D	0.000000	T	0.49304	0.1549	L	0.33624	1.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40850	-0.9541	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1808	B7WPF4	.	T	1968;1808	ENSP00000294383:A1968T;ENSP00000385700:A1808T	ENSP00000294383:A1968T	A	-	1	0	USP24	55335247	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GCA		0.517	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			3	30	0	0	0	1	0	3	30				
TCHH	7062	broad.mit.edu	37	1	152079962	152079962	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152079962G>A	ENST00000368804.1	-	2	5730	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1911					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGAAGCCGCCCATGGCCC	0.562																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5731-5733)Cgg>Tgg		trichohyalin							128.0	131.0	130.0					1																	152079962		1958	4134	6092	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152079962G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5731C>T	1.37:g.152079962G>A	ENSP00000357794:p.Arg1911Trp						p.R1911W	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5730	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1911					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5731C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	5.886	0.347592	0.11126	.	.	ENSG00000159450	ENST00000368804	T	0.06294	3.32	2.55	2.55	0.30701	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.56163	0.793	T	0.45116	-0.9283	9	0.72032	D	0.01	-3.0641	8.3021	0.32021	0.0:0.0:1.0:0.0	.	1911	Q07283	TRHY_HUMAN	W	1911	ENSP00000357794:R1911W	ENSP00000357794:R1911W	R	-	1	2	TCHH	150346586	0.002000	0.14202	0.030000	0.17652	0.209000	0.24338	0.630000	0.24553	1.273000	0.44346	0.306000	0.20318	CGG		0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		28	38	0	0	0	1	0	28	38				
OBSCN	84033	broad.mit.edu	37	1	228466411	228466411	+	Missense_Mutation	SNP	G	G	A	rs556474884		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228466411G>A	ENST00000422127.1	+	26	6925	c.6881G>A	c.(6880-6882)cGc>cAc	p.R2294H	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2723H|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2294H|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1141H|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2294	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCCTCGTGCGCCCGCTGCGG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15237	0.0		0.0	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8167-8169)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							40.0	48.0	45.0					1																	228466411		2112	4229	6341	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466411G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6881G>A	1.37:g.228466411G>A	ENSP00000409493:p.Arg2294His					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1141H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2294H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2294H	p.R2723H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8242	+		Prostate(94;0.0405)	1721			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8168G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984116	0.53827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.68331	-0.32;-0.32;-0.32	3.92	3.92	0.45320	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.109676	0.38217	N	0.001773	T	0.75895	0.3912	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.63033	0.91;0.868	T	0.76898	-0.2789	10	0.54805	T	0.06	.	4.7091	0.12863	0.2896:0.0:0.7104:0.0	.	2294;2294	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	2294;2294;1141	ENSP00000284548:R2294H;ENSP00000409493:R2294H;ENSP00000352613:R1141H	ENSP00000284548:R2294H	R	+	2	0	OBSCN	226533034	1.000000	0.71417	0.992000	0.48379	0.682000	0.39822	5.081000	0.64444	2.044000	0.60594	0.289000	0.19496	CGC		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	21	0	0	0	1	0	7	21				
PCED1B	91523	broad.mit.edu	37	12	47629421	47629421	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:47629421A>G	ENST00000546455.1	+	4	1306	c.575A>G	c.(574-576)gAa>gGa	p.E192G	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.E192G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	192							hydrolase activity (GO:0016787)										CTGAAAAACGAAGTGGTCAAA	0.582																																						ENST00000546455.1																			0											c.(574-576)gAa>gGa		PC-esterase domain containing 1B							32.0	26.0	28.0					12																	47629421		2203	4298	6501	SO:0001583	missense	91523							g.chr12:47629421A>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.575A>G	12.37:g.47629421A>G	ENSP00000446688:p.Glu192Gly					PCED1B_ENST00000432328.1_Missense_Mutation_p.E192G	p.E192G							4	1306	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.575A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723796	0.30593	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.18016	2.24;2.24;2.24	4.29	-8.58	0.00897	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	4.026210	0.01177	N	0.006994	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.24848	0.056	T	0.29088	-1.0023	10	0.66056	D	0.02	5.043	9.6387	0.39826	0.7315:0.086:0.0964:0.086	.	192	Q96HM7	F113B_HUMAN	G	192;192;72;72	ENSP00000446688:E192G;ENSP00000396040:E192G;ENSP00000448693:E72G	ENSP00000328560:E72G	E	+	2	0	FAM113B	45915688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.675000	0.05227	-2.799000	0.00353	-1.777000	0.00654	GAA		0.582	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		10	12	0	0	0	1	0	10	12				
CGNL1	84952	broad.mit.edu	37	15	57730747	57730747	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:57730747A>G	ENST00000281282.5	+	2	628	c.550A>G	c.(550-552)Aac>Gac	p.N184D		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	184	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAGGCATCAACAATAAGAA	0.453																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(550-552)Aac>Gac		cingulin-like 1							103.0	105.0	105.0					15																	57730747		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730747A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.550A>G	15.37:g.57730747A>G	ENSP00000281282:p.Asn184Asp						p.N184D	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	628	+			184			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.550A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	3.826	-0.036745	0.07497	.	.	ENSG00000128849	ENST00000281282	T	0.06294	3.32	4.98	1.37	0.22104	.	0.373697	0.22792	N	0.055595	T	0.04363	0.0120	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37126	-0.9719	10	0.52906	T	0.07	-9.8615	2.4159	0.04436	0.6082:0.1284:0.14:0.1234	.	184	Q0VF96	CGNL1_HUMAN	D	184	ENSP00000281282:N184D	ENSP00000281282:N184D	N	+	1	0	CGNL1	55518039	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	0.535000	0.23114	0.062000	0.16340	0.528000	0.53228	AAC		0.453	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		69	72	0	0	0	1	0	69	72				
RGPD4	285190	broad.mit.edu	37	2	108489163	108489163	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:108489163C>T	ENST00000408999.3	+	20	4780	c.4703C>T	c.(4702-4704)tCt>tTt	p.S1568F	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1568F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1568					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCACTGGGTCTTTGTTTGGA	0.353																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4702-4704)tCt>tTt		RANBP2-like and GRIP domain containing 4							76.0	68.0	70.0					2																	108489163		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108489163C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4703C>T	2.37:g.108489163C>T	ENSP00000386810:p.Ser1568Phe					RGPD4_ENST00000354986.4_Missense_Mutation_p.S1568F	p.S1568F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4780	+			1568					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4703C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.677759	0.29783	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.44881	0.91;0.91	2.33	2.33	0.28932	.	.	.	.	.	T	0.59569	0.2203	M	0.66939	2.045	0.29426	N	0.860208	D	0.71674	0.998	D	0.71870	0.975	T	0.55970	-0.8056	9	0.87932	D	0	-25.7538	11.5771	0.50869	0.0:1.0:0.0:0.0	.	1568	Q7Z3J3	RGPD4_HUMAN	F	1568	ENSP00000347081:S1568F;ENSP00000386810:S1568F	ENSP00000347081:S1568F	S	+	2	0	RGPD4	107855595	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.013000	0.70776	1.303000	0.44873	0.162000	0.16502	TCT		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		74	130	0	0	0	1	0	74	130				
KBTBD4	55709	broad.mit.edu	37	11	47599542	47599542	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47599542G>A	ENST00000526005.1	-	2	163	c.10C>T	c.(10-12)Cca>Tca	p.P4S	KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53S|KBTBD4_ENST00000533290.1_Missense_Mutation_p.P29S|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20S|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4S|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000450908.1_3'UTR|NDUFS3_ENST00000529276.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	4										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GGCTCCTCTGGTGATTCCATG	0.478																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(85-87)Cca>Tca		kelch repeat and BTB (POZ) domain containing 4							65.0	64.0	64.0					11																	47599542		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599542G>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.10C>T	11.37:g.47599542G>A	ENSP00000433340:p.Pro4Ser					NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.P4S|KBTBD4_ENST00000450908.1_3'UTR|KBTBD4_ENST00000395288.2_Missense_Mutation_p.P4S|KBTBD4_ENST00000430070.2_Missense_Mutation_p.P20S|KBTBD4_ENST00000525720.1_Missense_Mutation_p.P53S	p.P29S			Q9NVX7	KBTB4_HUMAN			1	799	-			4					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.85C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740815	0.30865	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.75589	-0.48;-0.54;-0.48;-0.55;-0.43;-0.57;-0.94;-0.95;-0.79	5.13	5.13	0.70059	.	0.365044	0.32081	N	0.006604	T	0.49830	0.1580	N	0.04508	-0.205	0.31396	N	0.677191	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.50575	-0.8812	10	0.25751	T	0.34	-11.8572	9.4268	0.38586	0.1666:0.0:0.8334:0.0	.	20;4;29	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	S	4;29;4;20;20;53;4;4;4;29	ENSP00000433340:P4S;ENSP00000436713:P29S;ENSP00000378703:P4S;ENSP00000415106:P20S;ENSP00000434477:P53S;ENSP00000433404:P4S;ENSP00000433653:P4S;ENSP00000435651:P4S;ENSP00000433124:P29S	ENSP00000352971:P20S	P	-	1	0	KBTBD4	47556118	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.605000	0.46283	2.532000	0.85374	0.561000	0.74099	CCA		0.478	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		23	27	0	0	0	1	0	23	27				
ZACN	353174	broad.mit.edu	37	17	74077646	74077646	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74077646G>A	ENST00000334586.5	+	7	773	c.690G>A	c.(688-690)gcG>gcA	p.A230A	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	230	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGAACACGGCGCTCAAGTCCA	0.667																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(688-690)gcG>gcA		zinc activated ligand-gated ion channel							97.0	92.0	94.0					17																	74077646		2203	4300	6503	SO:0001819	synonymous_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077646G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.690G>A	17.37:g.74077646G>A						EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	p.A230A	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	773	+			230			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	c.690G>A	CCDS11740.2																																																																																				0.667	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		43	70	0	0	0	1	0	43	70				
HRNR	388697	broad.mit.edu	37	1	152187858	152187858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152187858G>A	ENST00000368801.2	-	3	6322	c.6247C>T	c.(6247-6249)Cga>Tga	p.R2083*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2083					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCATGTCGGCCATAGCTG	0.622																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6247-6249)Cga>Tga		hornerin							41.0	34.0	37.0					1																	152187858		2185	4278	6463	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187858G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6247C>T	1.37:g.152187858G>A	ENSP00000357791:p.Arg2083*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2083*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6322	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2083					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6247C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	44	10.640077	0.99442	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.76	0.302	0.15786	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.9142	0.13839	0.1098:0.0:0.3403:0.5499	.	.	.	.	X	2083	.	ENSP00000357791:R2083X	R	-	1	2	HRNR	150454482	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.316000	0.23135	0.609000	0.83330	CGA		0.622	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		33	73	0	0	0	1	0	33	73				
EPN2	22905	broad.mit.edu	37	17	19232167	19232167	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19232167G>A	ENST00000314728.5	+	8	1775	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	EPN2_ENST00000395618.3_Missense_Mutation_p.A146T|EPN2_ENST00000395626.1_Missense_Mutation_p.A431T|EPN2_ENST00000575595.1_Missense_Mutation_p.A139T|EPN2_ENST00000347697.2_Missense_Mutation_p.A374T|EPN2_ENST00000571254.1_Missense_Mutation_p.A367T|EPN2_ENST00000395620.2_Missense_Mutation_p.A374T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	431	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CGCGTGGGGCGCAGTCTCCAC	0.647																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1291-1293)Gca>Aca		epsin 2							58.0	49.0	52.0					17																	19232167		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19232167G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1291G>A	17.37:g.19232167G>A	ENSP00000320543:p.Ala431Thr					EPN2_ENST00000395620.2_Missense_Mutation_p.A374T|EPN2_ENST00000571254.1_Missense_Mutation_p.A367T|EPN2_ENST00000395626.1_Missense_Mutation_p.A431T|EPN2_ENST00000395618.3_Missense_Mutation_p.A146T|EPN2_ENST00000347697.2_Missense_Mutation_p.A374T|EPN2_ENST00000575595.1_Missense_Mutation_p.A139T	p.A431T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			8	1775	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		431			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1291G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353064	0.41700	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.33654	1.79;1.79;1.79;1.42;1.79;1.4	4.77	-0.445	0.12242	.	0.376195	0.30419	N	0.009664	T	0.33411	0.0862	M	0.77820	2.39	0.09310	N	1	P;B;D;D;P;P;P	0.54772	0.946;0.313;0.968;0.968;0.602;0.946;0.818	B;B;P;P;B;B;B	0.46076	0.23;0.054;0.503;0.503;0.121;0.23;0.242	T	0.24728	-1.0152	10	0.21014	T	0.42	-3.8718	3.552	0.07850	0.167:0.3241:0.4017:0.1071	.	374;367;139;146;431;374;431	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	T	374;146;431;374;374;431	ENSP00000261495:A374T;ENSP00000378980:A146T;ENSP00000320543:A431T;ENSP00000378990:A374T;ENSP00000378982:A374T;ENSP00000378988:A431T	ENSP00000320543:A431T	A	+	1	0	EPN2	19172760	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	0.328000	0.19681	0.153000	0.19213	0.561000	0.74099	GCA		0.647	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		29	33	0	0	0	1	0	29	33				
PLXNA1	5361	broad.mit.edu	37	3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126734114G>T	ENST00000393409.2	+	14	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G966C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2896-2898)Ggc>Tgc		plexin A1							61.0	62.0	62.0					3																	126734114		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126734114G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2965G>T	3.37:g.126734114G>T	ENSP00000377061:p.Gly989Cys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.G989C	p.G966C			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	14	2965	+			989			IPT/TIG 2.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2896G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375457	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76709	-1.04;-1.04	4.37	4.37	0.52481	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.90683	0.7077	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93279	0.6658	10	0.87932	D	0	.	17.0974	0.86639	0.0:0.0:1.0:0.0	.	989	Q9UIW2	PLXA1_HUMAN	C	989;966	ENSP00000377061:G989C;ENSP00000251772:G966C	ENSP00000251772:G966C	G	+	1	0	PLXNA1	128216804	1.000000	0.71417	0.970000	0.41538	0.616000	0.37450	9.642000	0.98461	2.260000	0.74910	0.491000	0.48974	GGC		0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		16	14	1	0	6.94344e-10	1	7.39541e-10	16	14				
ZDHHC8	29801	broad.mit.edu	37	22	20128155	20128155	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20128155C>T	ENST00000334554.7	+	6	817	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R134C|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R226C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	226					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGGGAAGTTCCGCGGGGGTGT	0.697																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(676-678)Cgc>Tgc		zinc finger, DHHC-type containing 8							33.0	29.0	31.0					22																	20128155		2199	4298	6497	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20128155C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.676C>T	22.37:g.20128155C>T	ENSP00000334490:p.Arg226Cys					ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R134C|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R226C	p.R226C	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			6	817	+	Colorectal(54;0.0993)		226					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.676C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270173	0.80469	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.75260	1.03;-0.92;1.0	4.94	4.94	0.65067	.	0.068134	0.64402	D	0.000008	D	0.84705	0.5531	M	0.64997	1.995	0.80722	D	1	B;D;D	0.89917	0.1;1.0;1.0	B;D;D	0.83275	0.011;0.996;0.974	D	0.84604	0.0674	10	0.45353	T	0.12	.	18.5305	0.90990	0.0:1.0:0.0:0.0	.	134;226;226	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	C	226;134;226	ENSP00000334490:R226C;ENSP00000317804:R134C;ENSP00000384716:R226C	ENSP00000317804:R134C	R	+	1	0	ZDHHC8	18508155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.574000	0.67424	2.432000	0.82394	0.655000	0.94253	CGC		0.697	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		3	3	0	0	0	1	0	3	3				
BAGE2	85319	broad.mit.edu	37	21	11058218	11058218	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:11058218C>A	ENST00000470054.1	-	0	429							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAAATCCTGAAAGGTG	0.413																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							93.0	74.0	79.0					21																	11058218		692	1591	2283			85319							g.chr21:11058218C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058218C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	429	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.413	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	65	1	0	5.35356e-11	1	5.74024e-11	22	65				
MDFI	4188	broad.mit.edu	37	6	41617506	41617506	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41617506G>A	ENST00000373050.4	+	3	413	c.226G>A	c.(226-228)Gcc>Acc	p.A76T				Q99750	MDFI_HUMAN	MyoD family inhibitor	137					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCCATCTCTCGCCAGCCAGGG	0.642																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(226-228)Gcc>Acc		MyoD family inhibitor							110.0	118.0	115.0					6																	41617506		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41617506G>A	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.226G>A	6.37:g.41617506G>A	ENSP00000362141:p.Ala76Thr						p.A76T			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		3	413	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		137						Missense_Mutation	SNP	ENST00000373050.4	37	c.226G>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520161	0.44866	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000435476	.	.	.	5.42	2.53	0.30540	.	0.391108	0.25363	N	0.031209	T	0.10508	0.0257	L	0.51422	1.61	0.23144	N	0.998223	B	0.26258	0.145	B	0.13407	0.009	T	0.25745	-1.0123	9	0.11182	T	0.66	-3.6598	3.8631	0.09004	0.3229:0.1774:0.4997:0.0	.	137	Q99750	MDFI_HUMAN	T	137;137;137;137;137;76;76	.	ENSP00000230321:A137T	A	+	1	0	MDFI	41725484	1.000000	0.71417	0.981000	0.43875	0.866000	0.49608	2.636000	0.46545	0.669000	0.31146	-0.136000	0.14681	GCC		0.642	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		26	37	0	0	0	1	0	26	37				
FAM83G	644815	broad.mit.edu	37	17	18882884	18882884	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18882884G>A	ENST00000388995.6	-	4	1016	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FAM83G_ENST00000585154.2_Missense_Mutation_p.R265W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R265W|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	265					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CACACAGCCCGGTCTCCATCC	0.582																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(793-795)Cgg>Tgg		family with sequence similarity 83, member G							51.0	62.0	58.0					17																	18882884		2010	4171	6181	SO:0001583	missense	644815							g.chr17:18882884G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.793C>T	17.37:g.18882884G>A	ENSP00000373647:p.Arg265Trp					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R265W|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R265W	p.R265W			A6ND36	FA83G_HUMAN			4	1016	-			265					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.793C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091069	0.76756	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.22134	1.97;1.97	5.54	3.46	0.39613	.	0.117593	0.56097	D	0.000038	T	0.43478	0.1249	M	0.65975	2.015	0.39746	D	0.971827	D	0.89917	1.0	D	0.79784	0.993	T	0.50996	-0.8761	10	0.87932	D	0	-37.3884	13.9909	0.64367	0.0:0.0:0.491:0.509	.	265	A6ND36	FA83G_HUMAN	W	265	ENSP00000373647:R265W;ENSP00000343279:R265W	ENSP00000343279:R265W	R	-	1	2	FAM83G	18823609	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.186000	0.42593	1.328000	0.45358	0.655000	0.94253	CGG		0.582	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			12	15	0	0	0	1	0	12	15				
COL12A1	1303	broad.mit.edu	37	6	75892921	75892921	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75892921G>A	ENST00000322507.8	-	10	2045	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A579V|COL12A1_ENST00000416123.2_Missense_Mutation_p.A579V|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	579	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGAGCGAACGGCATCCTTCAC	0.428																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1735-1737)gCc>gTc		collagen, type XII, alpha 1							123.0	116.0	118.0					6																	75892921		1947	4144	6091	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892921G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1736C>T	6.37:g.75892921G>A	ENSP00000325146:p.Ala579Val					COL12A1_ENST00000483888.2_Missense_Mutation_p.A579V|COL12A1_ENST00000416123.2_Missense_Mutation_p.A579V|COL12A1_ENST00000345356.6_Intron	p.A579V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	2045	-			579			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1736C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867851	0.91587	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78003	-1.14;-1.14;-1.14	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.83834	0.5340	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78383	-0.2225	10	0.23891	T	0.37	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	579;579	D6RGG3;Q99715	.;COCA1_HUMAN	V	579	ENSP00000325146:A579V;ENSP00000412864:A579V;ENSP00000421216:A579V	ENSP00000325146:A579V	A	-	2	0	COL12A1	75949641	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	9.813000	0.99286	2.777000	0.95525	0.655000	0.94253	GCC		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		24	26	0	0	0	1	0	24	26				
CXCR2P1	3580	broad.mit.edu	37	2	218925608	218925608	+	RNA	SNP	C	C	T	rs114651961	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218925608C>T	ENST00000439871.1	-	0	772					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		AAGCAAGATGCGTAGGGACAG	0.517													G|||	139	0.0277556	0.0	0.0101	5008	,	,		25502	0.0853		0.0219	False		,,,				2504	0.0245					ENST00000439871.1																			0																																																			0							g.chr2:218925608C>T	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925608C>T								NR_002712.1						0	772	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.517	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		10	14	0	0	0	1	0	10	14				
PNMAL2	57469	broad.mit.edu	37	19	46997592	46997592	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46997592G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Silent_p.S377S			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGGACATGACGGACAAGACCT	0.642																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(1129-1131)tcC>tcT		paraneoplastic Ma antigen family-like 2							24.0	26.0	25.0					19																	46997592		1953	4117	6070	SO:0001627	intron_variant	57469							g.chr19:46997592G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+396C>T	19.37:g.46997592G>A						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.S377S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2163	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	377					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.1131C>T																																																																																					0.642	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		15	26	0	0	0	1	0	15	26				
KCNH8	131096	broad.mit.edu	37	3	19575323	19575323	+	Missense_Mutation	SNP	C	C	T	rs200231499		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:19575323C>T	ENST00000328405.2	+	16	3322	c.3056C>T	c.(3055-3057)aCg>aTg	p.T1019M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1019	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCAGATTCTACGTTGACGCCT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22753	0.0		0.0	False		,,,				2504	0.0				NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3055-3057)aCg>aTg		potassium voltage-gated channel, subfamily H (eag-related), member 8							247.0	240.0	242.0					3																	19575323		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575323C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3056C>T	3.37:g.19575323C>T	ENSP00000328813:p.Thr1019Met						p.T1019M	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3322	+			1019			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3056C>T	CCDS2632.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.64	2.595288	0.46318	.	.	ENSG00000183960	ENST00000328405	D	0.99113	-5.44	5.72	5.72	0.89469	.	0.000000	0.32328	U	0.006248	D	0.98985	0.9654	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99819	1.1046	9	.	.	.	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	1019	Q96L42	KCNH8_HUMAN	M	1019	ENSP00000328813:T1019M	.	T	+	2	0	KCNH8	19550327	0.975000	0.34042	0.027000	0.17364	0.473000	0.32948	4.092000	0.57707	2.703000	0.92315	0.655000	0.94253	ACG		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		69	101	0	0	0	1	0	69	101				
S1PR2	9294	broad.mit.edu	37	19	10334881	10334881	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10334881G>A	ENST00000590320.1	-	2	811	c.701C>T	c.(700-702)aCg>aTg	p.T234M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	234					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATGGTGACCGTCTTGAGCAG	0.627																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(700-702)aCg>aTg		sphingosine-1-phosphate receptor 2							79.0	65.0	69.0					19																	10334881		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334881G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.701C>T	19.37:g.10334881G>A	ENSP00000466933:p.Thr234Met						p.T234M	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	811	-			234					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.701C>T	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451857	0.84209	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.81	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.125364	0.51477	D	0.000091	T	0.75781	0.3896	M	0.62154	1.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.77715	-0.2484	9	0.87932	D	0	.	14.6264	0.68624	0.0:0.0:0.8536:0.1464	.	234	O95136	S1PR2_HUMAN	M	234	.	ENSP00000322049:T234M	T	-	2	0	S1PR2	10195881	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.926000	0.87569	2.757000	0.94681	0.651000	0.88453	ACG		0.627	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		3	14	0	0	0	1	0	3	14				
FAM171A1	221061	broad.mit.edu	37	10	15256021	15256021	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:15256021C>T	ENST00000378116.4	-	8	1572	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	522						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGATGAAGGCGCGGGGTACA	0.527																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1564-1566)gcG>gcA		family with sequence similarity 171, member A1							159.0	150.0	153.0					10																	15256021		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256021C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1566G>A	10.37:g.15256021C>T							p.A522A	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1572	-			522					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1566G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.076595	0.00375	.	.	ENSG00000148468	ENST00000396781	.	.	.	5.25	-1.3	0.09259	.	.	.	.	.	T	0.50069	0.1594	.	.	.	0.33999	D	0.650047	.	.	.	.	.	.	T	0.57802	-0.7748	5	0.41790	T	0.15	-1.9709	8.3372	0.32221	0.0:0.4065:0.1062:0.4873	.	.	.	.	H	522	.	ENSP00000380001:R522H	R	-	2	0	FAM171A1	15296027	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	-0.455000	0.06762	-0.339000	0.08401	-2.010000	0.00438	CGC		0.527	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		45	103	0	0	0	1	0	45	103				
SOX5	6660	broad.mit.edu	37	12	24048792	24048792	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:24048792G>A	ENST00000451604.2	-	2	306	c.205C>T	c.(205-207)Cca>Tca	p.P69S	SOX5_ENST00000541847.1_Missense_Mutation_p.P59S|SOX5_ENST00000541536.1_Missense_Mutation_p.P56S|SOX5_ENST00000309359.1_Missense_Mutation_p.P56S|SOX5_ENST00000545921.1_Missense_Mutation_p.P59S|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.P56S|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000381381.2_Missense_Mutation_p.P56S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	69					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGAGAAACTGGCTGAAATTCC	0.493																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(166-168)Cca>Tca		SRY (sex determining region Y)-box 5							233.0	226.0	228.0					12																	24048792		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24048792G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.205C>T	12.37:g.24048792G>A	ENSP00000398273:p.Pro69Ser					SOX5_ENST00000545921.1_Missense_Mutation_p.P59S|SOX5_ENST00000381381.2_Missense_Mutation_p.P56S|SOX5_ENST00000451604.2_Missense_Mutation_p.P69S|SOX5_ENST00000541847.1_Missense_Mutation_p.P59S|SOX5_ENST00000541536.1_Missense_Mutation_p.P56S|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000537393.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.P56S	p.P56S			P35711	SOX5_HUMAN			1	168	-			69					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.166C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879708	0.33162	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.96940	-4.17;-4.17;-4.18;-4.17;-4.18;-4.17	5.79	5.79	0.91817	.	0.121832	0.53938	D	0.000047	D	0.94742	0.8303	L	0.61387	1.9	0.46631	D	0.99913	B;B	0.18166	0.026;0.006	B;B	0.15052	0.012;0.007	D	0.91410	0.5150	10	0.32370	T	0.25	.	15.5089	0.75764	0.0:0.1377:0.8623:0.0	.	56;69	P35711-4;P35711	.;SOX5_HUMAN	S	56;56;56;69;56;59;59;56	ENSP00000437487:P56S;ENSP00000308927:P56S;ENSP00000370788:P56S;ENSP00000398273:P69S;ENSP00000441973:P56S;ENSP00000443520:P59S	ENSP00000308927:P56S	P	-	1	0	SOX5	23940059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.559000	0.53756	2.744000	0.94065	0.650000	0.86243	CCA		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		80	99	0	0	0	1	0	80	99				
BAIAP2L1	55971	broad.mit.edu	37	7	97933678	97933678	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97933678C>T	ENST00000005260.8	-	12	1467	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	418					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATGCTTCTCACTGGTGTGGGG	0.527																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1252-1254)Gtg>Atg		BAI1-associated protein 2-like 1							98.0	82.0	88.0					7																	97933678		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97933678C>T	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1252G>A	7.37:g.97933678C>T	ENSP00000005260:p.Val418Met						p.V418M	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1467	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		418					A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1252G>A	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	5.846	0.340319	0.11069	.	.	ENSG00000006453	ENST00000005260	T	0.22539	1.95	5.75	3.96	0.45880	.	0.513155	0.22624	N	0.057664	T	0.29524	0.0736	L	0.51422	1.61	0.29806	N	0.832004	D	0.59767	0.986	P	0.55667	0.781	T	0.07888	-1.0749	10	0.34782	T	0.22	-22.7531	9.4553	0.38751	0.0:0.8371:0.0:0.1629	.	418	Q9UHR4	BI2L1_HUMAN	M	418	ENSP00000005260:V418M	ENSP00000005260:V418M	V	-	1	0	AC093799.1	97771614	0.008000	0.16893	0.158000	0.22627	0.056000	0.15407	0.203000	0.17315	1.434000	0.47414	-0.133000	0.14855	GTG		0.527	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		12	13	0	0	0	1	0	12	13				
LY6H	4062	broad.mit.edu	37	8	144239899	144239899	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144239899C>A	ENST00000430474.2	-	4	356	c.191G>T	c.(190-192)aGg>aTg	p.R64M	LY6H_ENST00000342752.4_Missense_Mutation_p.R85M|LY6H_ENST00000414417.2_Missense_Mutation_p.R85M	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	64	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTGATCCTTCCTGCCTGGGAA	0.592																																						ENST00000414417.2																			0				endometrium(1)|lung(1)|stomach(2)	4						c.(253-255)aGg>aTg		lymphocyte antigen 6 complex, locus H							76.0	72.0	73.0					8																	144239899		2203	4300	6503	SO:0001583	missense	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144239899C>A	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.191G>T	8.37:g.144239899C>A	ENSP00000409899:p.Arg64Met					LY6H_ENST00000342752.4_Missense_Mutation_p.R85M|LY6H_ENST00000430474.2_Missense_Mutation_p.R64M	p.R85M	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN			5	487	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		64			UPAR/Ly6.		B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	ENST00000430474.2	37	c.254G>T	CCDS6396.1	.	.	.	.	.	.	.	.	.	.	c	15.03	2.711526	0.48517	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.69806	-0.43;-0.43;-0.43	3.38	2.5	0.30297	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.000000	0.52532	D	0.000073	T	0.58680	0.2139	N	0.08118	0	0.36756	D	0.883022	D	0.65815	0.995	D	0.65684	0.937	T	0.64757	-0.6332	10	0.56958	D	0.05	-10.7172	6.706	0.23250	0.0:0.8686:0.0:0.1314	.	64	O94772	LY6H_HUMAN	M	64;85;85	ENSP00000409899:R64M;ENSP00000342711:R85M;ENSP00000399485:R85M	ENSP00000342711:R85M	R	-	2	0	LY6H	144311274	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.017000	0.49615	1.007000	0.39238	0.511000	0.50034	AGG		0.592	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			3	28	1	0	0.115264	1	0.115739	3	28				
CBX4	8535	broad.mit.edu	37	17	77809045	77809045	+	Silent	SNP	C	C	T	rs541220750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77809045C>T	ENST00000269397.4	-	5	573	c.396G>A	c.(394-396)ccG>ccA	p.P132P	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	132	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTTGCTGTGCGGCTGGTACT	0.647											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		14945	0.0		0.0	False		,,,				2504	0.0					ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(394-396)ccG>ccA		chromobox homolog 4							113.0	113.0	113.0					17																	77809045		2203	4300	6503	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77809045C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.396G>A	17.37:g.77809045C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.P132P	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	573	-			132			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.396G>A	CCDS32758.1																																																																																				0.647	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		31	52	0	0	0	1	0	31	52				
ENKD1	84080	broad.mit.edu	37	16	67697373	67697373	+	Missense_Mutation	SNP	G	G	A	rs200151482		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67697373G>A	ENST00000243878.4	-	6	1151	c.830C>T	c.(829-831)aCg>aTg	p.T277M	ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602644.1_Silent_p.H222H|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	277	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											AGGCATGCGCGTGTGGCCTGG	0.697													g|||	1	0.000199681	0.0	0.0	5008	,	,		15693	0.0		0.001	False		,,,				2504	0.0					ENST00000243878.4																			0											c.(829-831)aCg>aTg		enkurin domain containing 1							37.0	42.0	40.0					16																	67697373		2198	4300	6498	SO:0001583	missense	84080							g.chr16:67697373G>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.830C>T	16.37:g.67697373G>A	ENSP00000243878:p.Thr277Met					ENKD1_ENST00000602644.1_Silent_p.H222H	p.T277M	NM_032140.1	NP_115516.1					6	1151	-								Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	c.830C>T	CCDS10844.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	19.43	3.826440	0.71143	.	.	ENSG00000124074	ENST00000243878	.	.	.	4.72	4.72	0.59763	.	0.046124	0.85682	D	0.000000	T	0.77698	0.4169	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.938	T	0.76745	-0.2846	9	0.36615	T	0.2	-15.0891	17.4698	0.87642	0.0:0.0:1.0:0.0	.	277;159	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	M	277	.	ENSP00000243878:T277M	T	-	2	0	C16orf48	66254874	1.000000	0.71417	0.952000	0.39060	0.617000	0.37484	3.023000	0.49666	2.452000	0.82932	0.556000	0.70494	ACG		0.697	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		22	40	0	0	0	1	0	22	40				
OGDH	4967	broad.mit.edu	37	7	44733588	44733588	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44733588C>T	ENST00000222673.5	+	11	1542	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	OGDH_ENST00000439616.2_Silent_p.D350D|OGDH_ENST00000543843.1_Silent_p.D451D|OGDH_ENST00000447398.1_Silent_p.D511D|OGDH_ENST00000449767.1_Silent_p.D496D|OGDH_ENST00000444676.1_Silent_p.D515D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	500					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCCACAAGGACGTGGTTGTCG	0.597																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1498-1500)gaC>gaT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						129.0	101.0	110.0					7																	44733588		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44733588C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1500C>T	7.37:g.44733588C>T						OGDH_ENST00000439616.2_Silent_p.D350D|OGDH_ENST00000444676.1_Silent_p.D515D|OGDH_ENST00000447398.1_Silent_p.D511D|OGDH_ENST00000543843.1_Silent_p.D451D|OGDH_ENST00000449767.1_Silent_p.D496D	p.D500D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			11	1542	+			500					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1500C>T	CCDS34627.1																																																																																				0.597	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			6	7	0	0	0	1	0	6	7				
DDX60	55601	broad.mit.edu	37	4	169227857	169227857	+	Silent	SNP	C	C	T	rs140161501	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169227857C>T	ENST00000393743.3	-	5	570	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	93					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGAAATACGCATACTCGG	0.363													C|||	6	0.00119808	0.0	0.0	5008	,	,		20529	0.0		0.0	False		,,,				2504	0.0061					ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(277-279)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C		0,4406		0,0,2203	63.0	63.0	63.0		279	-10.4	0.0	4	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX60	NM_017631.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		93/1713	169227857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227857C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.279G>A	4.37:g.169227857C>T							p.A93A	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	570	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	93					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.279G>A	CCDS34097.1																																																																																				0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		27	31	0	0	0	1	0	27	31				
LNP1	348801	broad.mit.edu	37	3	100170610	100170610	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100170610G>A	ENST00000383693.3	+	3	1484	c.204G>A	c.(202-204)agG>agA	p.R68R	LNP1_ENST00000489752.1_Silent_p.R81R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	68										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ATCCTAGAAGGCATTCTCATG	0.428																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(202-204)agG>agA		leukemia NUP98 fusion partner 1							95.0	86.0	89.0					3																	100170610		1874	4103	5977	SO:0001819	synonymous_variant	348801							g.chr3:100170610G>A		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.204G>A	3.37:g.100170610G>A						LNP1_ENST00000489752.1_Silent_p.R81R	p.R68R	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			3	1484	+			68					B7ZLT3	Silent	SNP	ENST00000383693.3	37	c.204G>A	CCDS43120.1																																																																																				0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			4	35	0	0	0	1	0	4	35				
AFAP1	60312	broad.mit.edu	37	4	7774729	7774729	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7774729G>A	ENST00000360265.4	-	14	2053	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	AFAP1_ENST00000358461.2_Missense_Mutation_p.P607S|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Missense_Mutation_p.P691S|AFAP1_ENST00000382543.3_Missense_Mutation_p.P691S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	607	Interaction with F-actin. {ECO:0000250}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ATCGCCTGCGGCTTCCTGCCT	0.607																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(2071-2073)Ccg>Tcg		actin filament associated protein 1							23.0	25.0	25.0					4																	7774729		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7774729G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1819C>T	4.37:g.7774729G>A	ENSP00000353402:p.Pro607Ser					AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.P691S|AFAP1_ENST00000358461.2_Missense_Mutation_p.P607S|AFAP1_ENST00000360265.4_Missense_Mutation_p.P607S	p.P691S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			16	2343	-			628					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.2071C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	0.054	-1.240708	0.01493	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.9	0.892	0.19230	.	0.339108	0.30686	N	0.009098	T	0.15003	0.0362	N	0.03115	-0.41	0.19775	N	0.999957	B;B	0.11235	0.0;0.004	B;B	0.10450	0.0;0.005	T	0.29119	-1.0022	10	0.09338	T	0.73	-15.6533	6.8963	0.24257	0.2449:0.0:0.3915:0.3636	.	691;607	E9PDT7;Q8N556	.;AFAP1_HUMAN	S	607;691;607;691	ENSP00000353402:P607S;ENSP00000410689:P691S;ENSP00000351245:P607S;ENSP00000371983:P691S	ENSP00000351245:P607S	P	-	1	0	AFAP1	7825629	0.996000	0.38824	0.695000	0.30226	0.070000	0.16714	0.298000	0.19120	-0.075000	0.12798	-0.694000	0.03704	CCG		0.607	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		11	6	0	0	0	1	0	11	6				
ARHGEF10L	55160	broad.mit.edu	37	1	17949514	17949514	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17949514G>T	ENST00000361221.3	+	12	1203	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E106D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E348D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E309D	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	348	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCTGATGGAGATGGAGCCCA	0.667																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1042-1044)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 10-like							57.0	53.0	54.0					1																	17949514		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17949514G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1044G>T	1.37:g.17949514G>T	ENSP00000355060:p.Glu348Asp					ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E106D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E309D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E126D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E348D	p.E348D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	12	1203	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	348			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1044G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323969	0.24080	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.58	3.67	0.42095	Dbl homology (DH) domain (5);	0.199706	0.42053	D	0.000767	T	0.55909	0.1950	L	0.49571	1.57	0.38636	D	0.951499	B;B;B;B;B;B;B;B	0.32620	0.378;0.071;0.292;0.002;0.071;0.149;0.322;0.245	B;B;B;B;B;B;B;B	0.38225	0.253;0.168;0.268;0.004;0.107;0.109;0.129;0.204	T	0.57124	-0.7865	10	0.46703	T	0.11	-22.4224	7.3453	0.26660	0.0933:0.1698:0.7369:0.0	.	126;106;348;126;114;309;309;348	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	D	348;309;348;309;106;126;126;126	ENSP00000355060:E348D;ENSP00000399401:E309D;ENSP00000394621:E348D;ENSP00000364564:E309D;ENSP00000364569:E106D;ENSP00000364557:E126D;ENSP00000167825:E126D	ENSP00000167825:E126D	E	+	3	2	ARHGEF10L	17822101	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.398000	0.44486	0.915000	0.36847	-0.339000	0.08088	GAG		0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		9	14	1	0	3.86212e-05	1	3.97146e-05	9	14				
MYH9	4627	broad.mit.edu	37	22	36710262	36710262	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36710262G>A	ENST00000216181.5	-	13	1712	c.1482C>T	c.(1480-1482)cgC>cgT	p.R494R	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	494	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGATGCCCTCGCGCTGGTACT	0.537			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1480-1482)cgC>cgT		myosin, heavy chain 9, non-muscle							208.0	156.0	173.0					22																	36710262		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36710262G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1482C>T	22.37:g.36710262G>A							p.R494R	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			13	1712	-			494			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1482C>T	CCDS13927.1																																																																																				0.537	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		30	35	0	0	0	1	0	30	35				
ENTPD1	953	broad.mit.edu	37	10	97625945	97625945	+	Silent	SNP	C	C	T	rs139646807	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97625945C>T	ENST00000371205.4	+	10	1621	c.1338C>T	c.(1336-1338)agC>agT	p.S446S	ENTPD1_ENST00000539125.1_Silent_p.S308S|RP11-429G19.3_ENST00000433113.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.S338S|ENTPD1_ENST00000453258.2_Silent_p.S453S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Silent_p.S308S|ENTPD1_ENST00000371207.3_Silent_p.S458S			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	446					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCCAGGGCAGCGACGCCGGCT	0.507																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(922-924)agC>agT		ectonucleoside triphosphate diphosphohydrolase 1		C	,,,,,,	0,4406		0,0,2203	164.0	124.0	138.0		1359,1374,1215,1014,924,924,1338	0.9	0.0	10	dbSNP_134	138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ENTPD1	NM_001098175.1,NM_001164178.1,NM_001164179.1,NM_001164181.1,NM_001164182.1,NM_001164183.1,NM_001776.5	,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,	453/518,458/523,405/470,338/403,308/373,308/373,446/511	97625945	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97625945C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1338C>T	10.37:g.97625945C>T						RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Silent_p.S458S|ENTPD1_ENST00000453258.2_Silent_p.S453S|ENTPD1_ENST00000371205.4_Silent_p.S446S|ENTPD1_ENST00000539125.1_Silent_p.S308S|ENTPD1_ENST00000543964.1_Silent_p.S338S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	p.S308S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	9	1511	+		Colorectal(252;0.0821)	446					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.924C>T	CCDS7444.1																																																																																				0.507	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		8	8	0	0	0	1	0	8	8				
ROBO4	54538	broad.mit.edu	37	11	124766120	124766120	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124766120C>A	ENST00000306534.3	-	4	1138	c.653G>T	c.(652-654)aGc>aTc	p.S218I	ROBO4_ENST00000533054.1_Missense_Mutation_p.S73I|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	218	Ig-like C2-type 2.				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)			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)		GGCTGCGCGGCTCTCCCTATG	0.612																																						ENST00000306534.3																			0				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						c.(652-654)aGc>aTc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							82.0	82.0	82.0					11																	124766120		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766120C>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.653G>T	11.37:g.124766120C>A	ENSP00000304945:p.Ser218Ile					ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.S73I	p.S218I	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	1138	-	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)	218			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.653G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540149	0.65085	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68331	-0.32;-0.32	5.04	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000275	D	0.85860	0.5795	M	0.93241	3.395	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88264	0.2925	10	0.54805	T	0.06	.	15.6032	0.76642	0.0:1.0:0.0:0.0	.	108;218	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	I	218;108;73	ENSP00000304945:S218I;ENSP00000437129:S73I	ENSP00000304945:S218I	S	-	2	0	ROBO4	124271330	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	4.532000	0.60608	2.765000	0.95021	0.650000	0.86243	AGC		0.612	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		20	33	1	0	5.35267e-07	1	5.59292e-07	20	33				
ACRC	93953	broad.mit.edu	37	X	70817888	70817888	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:70817888G>A	ENST00000373695.1	+	6	847	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ACRC_ENST00000373696.3_Splice_Site_p.D104N			Q96QF7	ACRC_HUMAN	acidic repeat containing	104						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAACAGCGACGGCAAGTATAT	0.418																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.e6+1		acidic repeat containing							104.0	83.0	90.0					X																	70817888		2203	4300	6503	SO:0001630	splice_region_variant	93953					nucleus		g.chrX:70817888G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.310+1G>A	X.37:g.70817888G>A						ACRC_ENST00000373696.3_Splice_Site_p.D104_splice	p.D104_splice			Q96QF7	ACRC_HUMAN			6	847	+	Renal(35;0.156)		104					B9EG62	Splice_Site	SNP	ENST00000373695.1	37	c.310_splice	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500710	0.44455	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.58210	0.35;0.35	3.68	3.68	0.42216	.	.	.	.	.	T	0.47746	0.1462	N	0.14661	0.345	0.09310	N	0.999995	D	0.76494	0.999	P	0.55508	0.777	T	0.34129	-0.9841	9	0.87932	D	0	.	9.9719	0.41759	0.0:0.0:1.0:0.0	.	104	Q96QF7	ACRC_HUMAN	N	104	ENSP00000362800:D104N;ENSP00000362799:D104N	ENSP00000362799:D104N	D	+	1	0	ACRC	70734613	0.977000	0.34250	0.461000	0.27105	0.075000	0.17131	3.516000	0.53436	2.105000	0.64084	0.468000	0.43344	GAT		0.418	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		Missense_Mutation	15	5	0	0	0	1	0	15	5				
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139.0	146.0	144.0					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T							p.T286T	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	932	-			286					B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.858G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		49	73	0	0	0	1	0	49	73				
TLK1	9874	broad.mit.edu	37	2	171863309	171863309	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:171863309C>T	ENST00000431350.2	-	16	2003		c.e16+1		TLK1_ENST00000521943.1_Splice_Site|TLK1_ENST00000360843.3_Splice_Site|TLK1_ENST00000442919.2_Splice_Site|TLK1_ENST00000434911.2_Splice_Site			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TATTCACTTACGTATCTGTAT	0.363																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.e16+1		tousled-like kinase 1							97.0	104.0	102.0					2																	171863309		2202	4297	6499	SO:0001630	splice_region_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863309C>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1598+1G>A	2.37:g.171863309C>T						TLK1_ENST00000360843.3_Splice_Site|TLK1_ENST00000521943.1_Splice_Site|TLK1_ENST00000434911.2_Splice_Site|TLK1_ENST00000431350.2_Splice_Site		NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			16	2070	-								B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	SNP	ENST00000431350.2	37		CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441178	0.83993	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLK1	171571555	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.481000	0.83766	0.454000	0.30748	.		0.363	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Intron	10	81	0	0	0	1	0	10	81				
ZFR	51663	broad.mit.edu	37	5	32390446	32390446	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32390446G>A	ENST00000265069.8	-	12	2179	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	693					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGGCCTGGAGGACCATGAGGA	0.552																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2077-2079)Cct>Tct		zinc finger RNA binding protein							140.0	132.0	135.0					5																	32390446		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390446G>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2077C>T	5.37:g.32390446G>A	ENSP00000265069:p.Pro693Ser						p.P693S	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2179	-			693					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2077C>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973601	0.74246	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.06218	3.33	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.51914	1.62	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.00112	-1.2044	10	0.72032	D	0.01	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	693	Q96KR1	ZFR_HUMAN	S	693;671	ENSP00000265069:P693S	ENSP00000265069:P693S	P	-	1	0	ZFR	32426203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.170000	0.94795	2.550000	0.86006	0.561000	0.74099	CCT		0.552	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			23	31	0	0	0	1	0	23	31				
DOPEY1	23033	broad.mit.edu	37	6	83838913	83838913	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83838913G>A	ENST00000349129.2	+	16	2287	c.2027G>A	c.(2026-2028)tGc>tAc	p.C676Y	DOPEY1_ENST00000369739.3_Missense_Mutation_p.C667Y|DOPEY1_ENST00000237163.5_Missense_Mutation_p.C657Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	676					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCAATGCAGTGCTGCTTGGAG	0.463																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2026-2028)tGc>tAc		dopey family member 1							116.0	116.0	116.0					6																	83838913		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838913G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2027G>A	6.37:g.83838913G>A	ENSP00000195654:p.Cys676Tyr					DOPEY1_ENST00000237163.5_Missense_Mutation_p.C657Y|DOPEY1_ENST00000369739.3_Missense_Mutation_p.C667Y	p.C676Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2287	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	676					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2027G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954427	0.34471	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24350	1.86;1.87	5.67	4.79	0.61399	.	0.053749	0.85682	D	0.000000	T	0.07954	0.0199	L	0.27053	0.805	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.11470	-1.0586	10	0.20519	T	0.43	.	11.3513	0.49589	0.1384:0.0:0.8616:0.0	.	567;667;676	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Y	676;657;657	ENSP00000195654:C676Y;ENSP00000237163:C657Y	ENSP00000237163:C657Y	C	+	2	0	DOPEY1	83895632	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.133000	0.64764	2.670000	0.90874	0.655000	0.94253	TGC		0.463	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	26	0	0	0	1	0	23	26				
LRP1	4035	broad.mit.edu	37	12	57579327	57579327	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57579327C>T	ENST00000243077.3	+	41	6943	c.6477C>T	c.(6475-6477)tgC>tgT	p.C2159C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2159	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACGTGTGCGCGGTGGCCA	0.672																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6475-6477)tgC>tgT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						18.0	19.0	19.0					12																	57579327		2161	4203	6364	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57579327C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6477C>T	12.37:g.57579327C>T							p.C2159C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	6943	+			2159			EGF-like 9.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.6477C>T	CCDS8932.1																																																																																				0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	24	0	0	0	1	0	9	24				
PKLR	5313	broad.mit.edu	37	1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155261708C>T	ENST00000342741.4	-	10	1495	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R455Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486			R -> W (in PKRD; frequent mutation; no conformational change; dbSNP:rs116100695). {ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM061899	PKLR	M		c.(1363-1365)cGg>cAg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						47.0	44.0	45.0					1																	155261708		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261708C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1457G>A	1.37:g.155261708C>T	ENSP00000339933:p.Arg486Gln					PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q	p.R455Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1477	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		486					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1364G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837117	0.50951	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99388	-5.81;-5.81	4.85	0.829	0.18847	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.183484	0.45867	N	0.000337	D	0.98251	0.9421	M	0.91510	3.215	0.43408	D	0.995542	B;B	0.31931	0.347;0.347	B;B	0.35727	0.209;0.209	D	0.96830	0.9610	10	0.66056	D	0.02	-12.0621	10.9328	0.47228	0.0:0.7545:0.0:0.2455	.	486;477	P30613;B1AVT1	KPYR_HUMAN;.	Q	511;455;486;400	ENSP00000376214:R455Q;ENSP00000339933:R486Q	ENSP00000271946:R400Q	R	-	2	0	PKLR	153528332	0.989000	0.36119	0.969000	0.41365	0.747000	0.42532	2.507000	0.45442	0.062000	0.16340	-1.305000	0.01319	CGG		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		17	28	0	0	0	1	0	17	28				
CHL1	10752	broad.mit.edu	37	3	403458	403458	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:403458C>T	ENST00000256509.2	+	13	2025	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	CHL1_ENST00000397491.2_Silent_p.C445C|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.C461C(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTACATTGCGAGTTCTTTG	0.408																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.C461C(1)	endometrium(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1381-1383)tgC>tgT		cell adhesion molecule L1-like							229.0	212.0	218.0					3																	403458		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:403458C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1383C>T	3.37:g.403458C>T						CHL1_ENST00000397491.2_Silent_p.C445C	p.C461C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	2025	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	445			Ig-like C2-type 5.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1383C>T	CCDS2556.1																																																																																				0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		23	48	0	0	0	1	0	23	48				
UBE4B	10277	broad.mit.edu	37	1	10231366	10231366	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10231366G>A	ENST00000253251.8	+	24	3956	c.3117G>A	c.(3115-3117)gcG>gcA	p.A1039A	UBE4B_ENST00000343090.6_Silent_p.A1168A|UBE4B_ENST00000377157.3_Silent_p.A923A					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCGGTTCGCGAAAGCCATTG	0.478																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2767-2769)gcG>gcA		ubiquitination factor E4B							100.0	97.0	98.0					1																	10231366		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10231366G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3117G>A	1.37:g.10231366G>A						UBE4B_ENST00000253251.8_Silent_p.A1039A|UBE4B_ENST00000343090.6_Silent_p.A1168A	p.A923A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3830	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1168						Silent	SNP	ENST00000253251.8	37	c.2769G>A	CCDS110.1																																																																																				0.478	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		27	52	0	0	0	1	0	27	52				
TMEM181	57583	broad.mit.edu	37	6	159029451	159029451	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159029451C>A	ENST00000367090.3	+	9	1182	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	391					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CCTGTGCGCCCTGCTGCTCTT	0.617																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1171-1173)Ctg>Atg		transmembrane protein 181							143.0	140.0	141.0					6																	159029451		2131	4262	6393	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159029451C>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1171C>A	6.37:g.159029451C>A	ENSP00000356057:p.Leu391Met						p.L391M	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	9	1182	+		Breast(66;0.000776)|Ovarian(120;0.0303)	391					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1171C>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761100	0.49468	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.65732	-0.17	5.21	-7.92	0.01160	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.64567	1.98	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.79115	-0.1936	10	0.59425	D	0.04	.	17.1131	0.86681	0.0:0.2477:0.0:0.7523	.	391	Q9P2C4	TM181_HUMAN	M	298;391	ENSP00000356057:L391M	ENSP00000323755:L298M	L	+	1	2	TMEM181	158949439	0.000000	0.05858	0.915000	0.36163	0.711000	0.40976	-0.326000	0.07965	-1.719000	0.01382	-1.000000	0.02509	CTG		0.617	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		23	50	1	0	3.5997e-14	1	3.92294e-14	23	50				
TMEM132E	124842	broad.mit.edu	37	17	32964564	32964564	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32964564C>T	ENST00000321639.5	+	10	2596	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	756						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGCCGGGCTCTGCGCTAC	0.746																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2266-2268)ggC>ggT		transmembrane protein 132E							8.0	10.0	9.0					17																	32964564		2099	4128	6227	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964564C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2268C>T	17.37:g.32964564C>T							p.G756G	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2596	+			756					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2268C>T	CCDS11283.1																																																																																				0.746	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		6	11	0	0	0	1	0	6	11				
TRIOBP	11078	broad.mit.edu	37	22	38131003	38131003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38131003C>T	ENST00000406386.3	+	9	4915	c.4660C>T	c.(4660-4662)Cga>Tga	p.R1554*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1554					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCTGAGAGGCGACCCGAGCT	0.677											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(4660-4662)Cga>Tga		TRIO and F-actin binding protein							54.0	63.0	60.0					22																	38131003		2031	4174	6205	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38131003C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4660C>T	22.37:g.38131003C>T	ENSP00000384312:p.Arg1554*		OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	RP1-37E16.12_ENST00000455236.1_RNA	p.R1554*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			9	4915	+	Melanoma(58;0.0574)		1554					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.4660C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	44	11.214685	0.99531	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	5.75	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0237	0.53358	0.0:0.6649:0.3351:0.0	.	.	.	.	X	1554;1515	.	ENSP00000384312:R1554X	R	+	1	2	TRIOBP	36460949	0.000000	0.05858	0.015000	0.15790	0.097000	0.18754	0.015000	0.13355	1.384000	0.46424	0.563000	0.77884	CGA		0.677	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	43	0	0	0	1	0	11	43				
ZCCHC2	54877	broad.mit.edu	37	18	60242433	60242433	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60242433G>A	ENST00000269499.5	+	13	3537	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G719E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1040						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCAATGCCTGGACCAATGTAC	0.468																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(3118-3120)gGa>gAa		zinc finger, CCHC domain containing 2							69.0	76.0	73.0					18																	60242433		2038	4191	6229	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242433G>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3119G>A	18.37:g.60242433G>A	ENSP00000269499:p.Gly1040Glu					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G719E	p.G1040E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3537	+			1040					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.3119G>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097187	0.76870	.	.	ENSG00000141664	ENST00000269499	T	0.30714	1.52	5.29	5.29	0.74685	.	0.074834	0.53938	D	0.000047	T	0.55114	0.1900	M	0.63843	1.955	0.58432	D	0.999996	D	0.89917	1.0	D	0.74023	0.982	T	0.56517	-0.7966	10	0.72032	D	0.01	-13.1912	19.3098	0.94182	0.0:0.0:1.0:0.0	.	1040	Q9C0B9	ZCHC2_HUMAN	E	1040	ENSP00000269499:G1040E	ENSP00000269499:G1040E	G	+	2	0	ZCCHC2	58393413	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.233000	0.58651	2.625000	0.88918	0.650000	0.86243	GGA		0.468	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		19	15	0	0	0	1	0	19	15				
TP53TG5	27296	broad.mit.edu	37	20	44003714	44003714	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44003714C>T	ENST00000372726.3	-	4	889	c.733G>A	c.(733-735)Gca>Aca	p.A245T	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A229T|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	245					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCAAGTGATGCGGAGCAGAAG	0.617																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(733-735)Gca>Aca		TP53 target 5							65.0	64.0	64.0					20																	44003714		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003714C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.733G>A	20.37:g.44003714C>T	ENSP00000361811:p.Ala245Thr					SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A229T|SYS1-DBNDD2_ENST00000475242.1_Intron	p.A245T	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	889	-			245						Missense_Mutation	SNP	ENST00000372726.3	37	c.733G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395533	0.83011	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.22539	1.95;1.95	5.72	5.72	0.89469	.	0.085770	0.50627	D	0.000109	T	0.42494	0.1205	L	0.49778	1.585	0.36643	D	0.876978	D	0.89917	1.0	D	0.83275	0.996	T	0.42582	-0.9443	10	0.66056	D	0.02	-7.4054	16.6161	0.84916	0.0:1.0:0.0:0.0	.	245	Q9Y2B4	T53G5_HUMAN	T	245;229	ENSP00000361811:A245T;ENSP00000438374:A229T	ENSP00000361811:A245T	A	-	1	0	TP53TG5	43437128	0.165000	0.22948	0.903000	0.35520	0.625000	0.37756	1.530000	0.36007	2.691000	0.91804	0.655000	0.94253	GCA		0.617	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		23	29	0	0	0	1	0	23	29				
DNMBP	23268	broad.mit.edu	37	10	101636947	101636947	+	Silent	SNP	G	G	A	rs549141280		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101636947G>A	ENST00000324109.4	-	17	4786	c.4695C>T	c.(4693-4695)taC>taT	p.Y1565Y	DNMBP_ENST00000540316.1_Silent_p.Y501Y|DNMBP_ENST00000342239.3_Silent_p.Y1589Y|DNMBP_ENST00000543621.1_Silent_p.Y811Y	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1565	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGAGGGAACGTAGCCCTTCT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18949	0.001		0.0	False		,,,				2504	0.0					ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4765-4767)taC>taT		dynamin binding protein							206.0	158.0	174.0					10																	101636947		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101636947G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4695C>T	10.37:g.101636947G>A						DNMBP_ENST00000324109.4_Silent_p.Y1565Y|DNMBP_ENST00000543621.1_Silent_p.Y811Y|DNMBP_ENST00000540316.1_Silent_p.Y501Y	p.Y1589Y			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4858	-		Colorectal(252;0.234)	1565					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.4767C>T	CCDS7485.1																																																																																				0.517	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		37	60	0	0	0	1	0	37	60				
LXN	56925	broad.mit.edu	37	3	158390150	158390150	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158390150C>T	ENST00000264265.3	-	1	332	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	40	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCCATGCTGGCTTGTTTGACC	0.602											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264265.3																			0				breast(2)|endometrium(1)|kidney(2)	5						c.(118-120)Gcc>Acc		latexin							188.0	175.0	179.0					3																	158390150		2203	4300	6503	SO:0001583	missense	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158390150C>T	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.118G>A	3.37:g.158390150C>T	ENSP00000264265:p.Ala40Thr		OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1793	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	p.A40T	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	332	-			40					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.118G>A	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293259	0.95546	.	.	ENSG00000079257	ENST00000264265	T	0.59364	0.27	5.31	5.31	0.75309	.	0.055891	0.64402	D	0.000001	T	0.76870	0.4048	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78682	-0.2109	10	0.72032	D	0.01	-15.7994	18.7569	0.91836	0.0:1.0:0.0:0.0	.	40	Q9BS40	LXN_HUMAN	T	40	ENSP00000264265:A40T	ENSP00000264265:A40T	A	-	1	0	LXN	159872844	1.000000	0.71417	0.960000	0.40013	0.591000	0.36615	6.405000	0.73272	2.758000	0.94735	0.591000	0.81541	GCC		0.602	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		23	108	0	0	0	1	0	23	108				
SLC5A2	6524	broad.mit.edu	37	16	31500022	31500022	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31500022G>A	ENST00000330498.3	+	10	1228	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	403					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCAGCAGCACGCTCTTCACCA	0.701																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1207-1209)acG>acA		solute carrier family 5 (sodium/glucose cotransporter), member 2							29.0	26.0	27.0					16																	31500022		2197	4299	6496	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500022G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1209G>A	16.37:g.31500022G>A							p.T403T	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			10	1228	+			403					A2RRD2	Silent	SNP	ENST00000330498.3	37	c.1209G>A	CCDS10714.1																																																																																				0.701	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			17	9	0	0	0	1	0	17	9				
DIEXF	27042	broad.mit.edu	37	1	210024741	210024741	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210024741G>T	ENST00000491415.2	+	12	2277	c.2220G>T	c.(2218-2220)caG>caT	p.Q740H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	740					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGGCGGCACAGATGCTACAGT	0.478																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(2218-2220)caG>caT		digestive organ expansion factor homolog (zebrafish)							108.0	91.0	97.0					1																	210024741		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210024741G>T	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.2220G>T	1.37:g.210024741G>T	ENSP00000419005:p.Gln740His						p.Q740H	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			12	2277	+			740					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.2220G>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068517	0.76301	.	.	ENSG00000117597	ENST00000491415	T	0.46063	0.88	5.95	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.31420	0.93	0.58432	D	0.999996	P	0.46784	0.884	P	0.52646	0.705	T	0.08659	-1.0711	10	0.40728	T	0.16	-22.1729	9.1133	0.36741	0.1586:0.0:0.8414:0.0	.	740	Q68CQ4	DIEXF_HUMAN	H	740	ENSP00000419005:Q740H	ENSP00000419005:Q740H	Q	+	3	2	DIEXF	208091364	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.578000	0.53892	2.824000	0.97209	0.655000	0.94253	CAG		0.478	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		21	31	1	0	7.4402e-23	1	8.28189e-23	21	31				
B3GNT3	10331	broad.mit.edu	37	19	17918927	17918927	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17918927C>T	ENST00000318683.6	+	2	458	c.311C>T	c.(310-312)gCg>gTg	p.A104V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A104V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	104					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCTAAGTGCGCGCAGCCGGTC	0.662																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(310-312)gCg>gTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							42.0	35.0	37.0					19																	17918927		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918927C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.311C>T	19.37:g.17918927C>T	ENSP00000321874:p.Ala104Val					B3GNT3_ENST00000595387.1_Missense_Mutation_p.A104V	p.A104V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	458	+			104					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.311C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823625	0.16678	.	.	ENSG00000179913	ENST00000318683	T	0.28454	1.61	3.76	-1.98	0.07480	.	0.282900	0.31381	U	0.007758	T	0.16385	0.0394	L	0.55213	1.73	0.09310	N	1	P	0.38863	0.65	B	0.30029	0.11	T	0.13764	-1.0497	10	0.49607	T	0.09	.	0.3478	0.00344	0.2053:0.3221:0.201:0.2716	.	104	Q9Y2A9	B3GN3_HUMAN	V	104	ENSP00000321874:A104V	ENSP00000321874:A104V	A	+	2	0	B3GNT3	17779927	0.025000	0.19082	0.033000	0.17914	0.036000	0.12997	1.252000	0.32874	0.100000	0.17581	-0.534000	0.04291	GCG		0.662	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	27	0	0	0	1	0	13	27				
CEACAM20	125931	broad.mit.edu	37	19	45026872	45026872	+	RNA	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45026872T>C	ENST00000454753.1	-	0	820							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTGGAGCCCTCCATCACCTC	0.498																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							96.0	105.0	102.0					19																	45026872		2127	4240	6367			125931					integral to membrane		g.chr19:45026872T>C	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45026872T>C										Q6UY09	CEA20_HUMAN			0	820	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.498	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		6	4	0	0	0	1	0	6	4				
ITIH5	80760	broad.mit.edu	37	10	7679251	7679251	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7679251C>T	ENST00000256861.6	-	5	670	c.592G>A	c.(592-594)Gca>Aca	p.A198T	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A198T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A198T|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	198					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A198T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCAGGGATGCGATGCCCGCG	0.657																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.A198T(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(592-594)Gca>Aca		inter-alpha-trypsin inhibitor heavy chain family, member 5							74.0	75.0	75.0					10																	7679251		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679251C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.592G>A	10.37:g.7679251C>T	ENSP00000256861:p.Ala198Thr					ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A198T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A198T	p.A198T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			5	670	-			198					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	C	1.318	-0.600312	0.03744	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02323	4.85;4.34;4.34	5.88	-2.99	0.05497	.	1.028080	0.07646	N	0.931097	T	0.01800	0.0057	.	.	.	0.09310	N	1	B;B	0.17852	0.024;0.002	B;B	0.18263	0.021;0.001	T	0.48559	-0.9025	9	0.30078	T	0.28	-5.3303	1.9961	0.03457	0.1975:0.2695:0.0974:0.4357	.	198;198	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	198	ENSP00000256861:A198T;ENSP00000380333:A198T;ENSP00000380332:A198T	ENSP00000256861:A198T	A	-	1	0	ITIH5	7719257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.144000	0.03197	-0.524000	0.06400	-0.140000	0.14226	GCA		0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		18	34	0	0	0	1	0	18	34				
TAZ	6901	broad.mit.edu	37	X	153647888	153647888	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153647888G>A	ENST00000350743.4	+	5	666	c.377G>A	c.(376-378)gGc>gAc	p.G126D	TAZ_ENST00000351413.4_Missense_Mutation_p.G156D|TAZ_ENST00000369790.4_Missense_Mutation_p.G126D|TAZ_ENST00000299328.5_Missense_Mutation_p.G156D|TAZ_ENST00000475699.1_Intron|TAZ_ENST00000369776.4_Missense_Mutation_p.G101D	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGAGATGGCGTCTACCAG	0.542																																						ENST00000299328.5																			0				lung(1)	1						c.(466-468)gGc>gAc		tafazzin							103.0	83.0	89.0					X																	153647888		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153647888G>A	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.377G>A	X.37:g.153647888G>A	ENSP00000338891:p.Gly126Asp					TAZ_ENST00000350743.4_Missense_Mutation_p.G126D|TAZ_ENST00000369776.4_Missense_Mutation_p.G101D|TAZ_ENST00000369790.4_Missense_Mutation_p.G126D|TAZ_ENST00000351413.4_Missense_Mutation_p.G156D	p.G156D	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			6	756	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		156			Hydrophilic.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.467G>A	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894681	0.91962	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735	D;D;D;D;D;D;D	0.97256	-3.24;-4.31;-3.24;-3.24;-4.31;-4.31;-3.21	5.41	4.55	0.56014	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	U	0.000000	D	0.98140	0.9386	M	0.82517	2.595	0.80722	D	1	D;D;P;P;D;B	0.71674	0.998;0.985;0.9;0.952;0.996;0.121	D;D;P;P;D;B	0.74023	0.982;0.938;0.784;0.71;0.954;0.111	D	0.98179	1.0456	10	0.62326	D	0.03	.	11.1721	0.48577	0.0919:0.0:0.9081:0.0	.	174;101;126;126;156;156	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	D	126;156;126;144;156;101;125	ENSP00000358805:G126D;ENSP00000299328:G156D;ENSP00000338891:G126D;ENSP00000397388:G144D;ENSP00000218246:G156D;ENSP00000358791:G101D;ENSP00000398193:G125D	ENSP00000299328:G156D	G	+	2	0	TAZ	153301082	1.000000	0.71417	0.041000	0.18516	0.670000	0.39368	8.842000	0.92136	1.072000	0.40860	0.431000	0.28591	GGC		0.542	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			27	6	0	0	0	1	0	27	6				
KIF15	56992	broad.mit.edu	37	3	44893290	44893290	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44893290T>C	ENST00000326047.4	+	33	3967	c.3818T>C	c.(3817-3819)gTc>gCc	p.V1273A	KIF15_ENST00000425755.1_Missense_Mutation_p.V908A	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1273					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAGAAGAAGTCCAAAGTGCC	0.383																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3817-3819)gTc>gCc		kinesin family member 15							138.0	148.0	145.0					3																	44893290		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44893290T>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3818T>C	3.37:g.44893290T>C	ENSP00000324020:p.Val1273Ala					KIF15_ENST00000425755.1_Missense_Mutation_p.V908A	p.V1273A	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	33	3967	+			1273					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3818T>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748256	0.30955	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.28666	1.6;1.6	5.72	4.58	0.56647	.	0.299366	0.23710	N	0.045329	T	0.17831	0.0428	L	0.29908	0.895	0.32784	N	0.502042	B	0.06786	0.001	B	0.04013	0.001	T	0.14980	-1.0453	10	0.19147	T	0.46	.	4.6562	0.12618	0.0:0.2662:0.0:0.7338	.	1273	Q9NS87	KIF15_HUMAN	A	1273;908	ENSP00000324020:V1273A;ENSP00000389982:V908A	ENSP00000324020:V1273A	V	+	2	0	KIF15	44868294	1.000000	0.71417	0.642000	0.29436	0.586000	0.36452	3.252000	0.51461	2.185000	0.69588	0.459000	0.35465	GTC		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			46	58	0	0	0	1	0	46	58				
SLC29A2	3177	broad.mit.edu	37	11	66136900	66136900	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66136900G>A	ENST00000357440.2	-	3	443	c.215C>T	c.(214-216)aCg>aTg	p.T72M	SLC29A2_ENST00000544554.1_Missense_Mutation_p.T72M|SLC29A2_ENST00000311161.7_Missense_Mutation_p.T72M|SLC29A2_ENST00000546034.1_Missense_Mutation_p.T72M	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGACAGCAGCGTCACCCAATT	0.647																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)aCg>aTg		solute carrier family 29 (equilibrative nucleoside transporter), member 2							189.0	171.0	177.0					11																	66136900		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66136900G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.215C>T	11.37:g.66136900G>A	ENSP00000350024:p.Thr72Met					SLC29A2_ENST00000544554.1_Missense_Mutation_p.T72M|SLC29A2_ENST00000311161.7_Missense_Mutation_p.T72M|SLC29A2_ENST00000546034.1_Missense_Mutation_p.T72M	p.T72M	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			3	443	-			72					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.215C>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035766	0.75617	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.0	5.0	0.66597	.	0.111297	0.64402	D	0.000012	T	0.52125	0.1715	M	0.78285	2.405	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.939	T	0.57871	-0.7736	10	0.87932	D	0	-12.5455	15.864	0.79047	0.0:0.0:1.0:0.0	.	72;72	G5E943;Q14542	.;S29A2_HUMAN	M	72	ENSP00000311250:T72M;ENSP00000350024:T72M;ENSP00000439456:T72M;ENSP00000440329:T72M	ENSP00000311250:T72M	T	-	2	0	SLC29A2	65893476	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	5.051000	0.64257	2.345000	0.79718	0.555000	0.69702	ACG		0.647	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		4	131	0	0	0	1	0	4	131				
KIF16B	55614	broad.mit.edu	37	20	16488647	16488647	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16488647C>T	ENST00000354981.2	-	7	812	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	KIF16B_ENST00000355755.3_Missense_Mutation_p.V219I|KIF16B_ENST00000408042.1_Missense_Mutation_p.V219I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	219	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGCTACTGACGTCGTTCATC	0.493																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(655-657)Gtc>Atc		kinesin family member 16B							251.0	207.0	222.0					20																	16488647		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16488647C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.655G>A	20.37:g.16488647C>T	ENSP00000347076:p.Val219Ile					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V219I|KIF16B_ENST00000355755.3_Missense_Mutation_p.V219I	p.V219I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			7	812	-			219			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.655G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619667	0.87460	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74947	-0.89;-0.89;-0.89	5.84	5.84	0.93424	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.85197	2.74	0.80722	D	1	P;D;P;P	0.52996	0.87;0.957;0.755;0.794	B;B;B;B	0.42827	0.215;0.399;0.181;0.276	D	0.83933	0.0307	10	0.59425	D	0.04	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	219;219;219;219	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	219	ENSP00000347076:V219I;ENSP00000347995:V219I;ENSP00000384164:V219I	ENSP00000347076:V219I	V	-	1	0	KIF16B	16436647	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	4.071000	0.57556	2.763000	0.94921	0.557000	0.71058	GTC		0.493	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		65	87	0	0	0	1	0	65	87				
SNX19	399979	broad.mit.edu	37	11	130784663	130784663	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130784663C>T	ENST00000265909.4	-	1	1741	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G391D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	391					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAGAAAGCTGCCTGGAGTCAT	0.532																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1171-1173)gGc>gAc		sorting nexin 19							67.0	66.0	66.0					11																	130784663		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784663C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1172G>A	11.37:g.130784663C>T	ENSP00000265909:p.Gly391Asp					SNX19_ENST00000533214.1_Missense_Mutation_p.G391D|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron	p.G391D	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1741	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	391					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1172G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683765	0.29872	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.20069	2.1;2.1	5.1	5.1	0.69264	.	0.323776	0.32372	N	0.006200	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	B;B	0.27498	0.18;0.11	B;B	0.23150	0.044;0.016	T	0.06445	-1.0826	10	0.28530	T	0.3	-14.758	9.3757	0.38281	0.0:0.8439:0.0:0.1561	.	391;391	E9PKB9;Q92543	.;SNX19_HUMAN	D	391	ENSP00000265909:G391D;ENSP00000435390:G391D	ENSP00000265909:G391D	G	-	2	0	SNX19	130289873	0.663000	0.27448	0.999000	0.59377	0.983000	0.72400	1.301000	0.33447	2.660000	0.90430	0.650000	0.86243	GGC		0.532	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		5	31	0	0	0	1	0	5	31				
SH2B3	10019	broad.mit.edu	37	12	111885287	111885287	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111885287G>A	ENST00000341259.2	+	6	1532	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	SH2B3_ENST00000538307.1_Missense_Mutation_p.R190Q	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	392	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TTCCTGGTGCGGCAGAGCGAG	0.627																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1174-1176)cGg>cAg		SH2B adaptor protein 3							64.0	69.0	67.0					12																	111885287		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885287G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1175G>A	12.37:g.111885287G>A	ENSP00000345492:p.Arg392Gln					SH2B3_ENST00000538307.1_Missense_Mutation_p.R190Q	p.R392Q	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1532	+			392			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1175G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	36	5.692444	0.96793	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	D;D	0.99287	-5.69;-5.69	5.0	5.0	0.66597	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97247	0.9895	10	0.87932	D	0	-17.5977	18.6561	0.91455	0.0:0.0:1.0:0.0	.	190;256;392	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	Q	392;202;190	ENSP00000345492:R392Q;ENSP00000440597:R190Q	ENSP00000345492:R392Q	R	+	2	0	SH2B3	110369670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.393000	0.97256	2.482000	0.83794	0.462000	0.41574	CGG		0.627	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		10	50	0	0	0	1	0	10	50				
PRSS58	136541	broad.mit.edu	37	7	141954939	141954939	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141954939G>A	ENST00000552471.1	-	3	691	c.372C>T	c.(370-372)taC>taT	p.Y124Y	PRSS58_ENST00000547058.2_Silent_p.Y124Y			Q8IYP2	PRS58_HUMAN	protease, serine, 58	124	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATAGTTTGGTAGGGCAGGT	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(370-372)taC>taT		protease, serine, 58							256.0	231.0	240.0					7																	141954939		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954939G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.372C>T	7.37:g.141954939G>A						PRSS58_ENST00000547058.2_Silent_p.Y124Y	p.Y124Y			Q8IYP2	PRS58_HUMAN			3	691	-			124			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.372C>T	CCDS5871.1																																																																																				0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		29	97	0	0	0	1	0	29	97				
ZBTB46	140685	broad.mit.edu	37	20	62421673	62421673	+	Silent	SNP	G	G	A	rs142438754		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62421673G>A	ENST00000245663.4	-	2	588	c.438C>T	c.(436-438)atC>atT	p.I146I	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.I146I|ZBTB46_ENST00000302995.2_Silent_p.I146I	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	146					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ACGAGGCGCCGATCTCGAACT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21177	0.0		0.0	False		,,,				2504	0.0					ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(436-438)atC>atT		zinc finger and BTB domain containing 46		G		3,4403	6.2+/-15.9	0,3,2200	38.0	33.0	35.0		438	-11.3	0.0	20	dbSNP_134	35	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	ZBTB46	NM_025224.3		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		146/590	62421673	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421673G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.438C>T	20.37:g.62421673G>A						ZBTB46_ENST00000395104.1_Silent_p.I146I|ZBTB46_ENST00000302995.2_Silent_p.I146I	p.I146I	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	588	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		146					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.438C>T	CCDS13538.1																																																																																				0.617	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		9	9	0	0	0	1	0	9	9				
COL4A6	1288	broad.mit.edu	37	X	107406169	107406169	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107406169G>T	ENST00000372216.4	-	41	4272	c.4172C>A	c.(4171-4173)cCt>cAt	p.P1391H	COL4A6_ENST00000538570.1_Missense_Mutation_p.P1333H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1390H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1391H|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1366H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1391	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGTGAGGCCAGGGATGCCATC	0.582									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4168-4170)cCt>cAt		collagen, type IV, alpha 6							125.0	124.0	124.0					X																	107406169		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107406169G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4172C>A	X.37:g.107406169G>T	ENSP00000361290:p.Pro1391His					COL4A6_ENST00000545689.1_Missense_Mutation_p.P1366H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1333H|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1391H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1391H	p.P1390H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			41	4402	-			1391			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4169C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922156	0.17982	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-3.78;-4.19	4.23	4.23	0.50019	.	0.173595	0.28088	N	0.016650	D	0.98043	0.9355	M	0.89287	3.02	0.21184	N	0.999762	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;P;D;D	0.97110	0.996;0.8;1.0;0.996	D	0.93269	0.6650	10	0.72032	D	0.01	.	11.6002	0.50997	0.0:0.0:0.8216:0.1784	.	1366;1333;1391;1390	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	1391;1390;1391;1378;1366;1333	ENSP00000361290:P1391H;ENSP00000334733:P1390H;ENSP00000378340:P1391H;ENSP00000443707:P1366H;ENSP00000445236:P1333H	ENSP00000334733:P1390H	P	-	2	0	COL4A6	107292825	1.000000	0.71417	0.996000	0.52242	0.336000	0.28762	2.393000	0.44442	2.345000	0.79718	0.600000	0.82982	CCT		0.582	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			54	13	1	0	5.57489e-27	1	6.2347e-27	54	13				
LCN8	138307	broad.mit.edu	37	9	139649707	139649707	+	Missense_Mutation	SNP	G	G	A	rs201406650		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139649707G>A	ENST00000371688.3	-	5	705	c.410C>T	c.(409-411)gCg>gTg	p.A137V	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	160					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGCCGGGCCGCCAGGTAGAG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14576	0.001		0.0	False		,,,				2504	0.0					ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(409-411)gCg>gTg		lipocalin 8							42.0	51.0	48.0					9																	139649707		2203	4300	6503	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139649707G>A	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.410C>T	9.37:g.139649707G>A	ENSP00000360753:p.Ala137Val					LCN8_ENST00000482893.1_5'UTR	p.A137V	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	5	705	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	160					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.410C>T	CCDS35183.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.012	-1.668269	0.00765	.	.	ENSG00000204001	ENST00000371688	T	0.25749	1.78	2.76	0.113	0.14631	.	.	.	.	.	T	0.09247	0.0228	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39522	-0.9610	9	0.11485	T	0.65	.	5.8196	0.18520	0.8083:0.0:0.1917:0.0	.	137	Q6JVE9-2	.	V	137	ENSP00000360753:A137V	ENSP00000360753:A137V	A	-	2	0	LCN8	138769528	0.000000	0.05858	0.272000	0.24630	0.536000	0.34869	-0.089000	0.11180	0.013000	0.14918	-0.320000	0.08662	GCG		0.682	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		19	33	0	0	0	1	0	19	33				
AIM1L	55057	broad.mit.edu	37	1	26658018	26658018	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26658018C>T	ENST00000308182.5	-	14	1570	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	AIM1L_ENST00000527815.1_Missense_Mutation_p.A552T			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	381	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTGTGGAGGCGAGGCAGCCC	0.572																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1654-1656)Gcc>Acc		absent in melanoma 1-like							97.0	85.0	89.0					1																	26658018		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26658018C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1141G>A	1.37:g.26658018C>T	ENSP00000310435:p.Ala381Thr					AIM1L_ENST00000308182.5_Missense_Mutation_p.A381T	p.A552T	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	1703	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	381			Ricin B-type lectin.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1654G>A		.	.	.	.	.	.	.	.	.	.	C	0.239	-1.015251	0.02078	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75821	-0.97;-0.97	5.66	1.53	0.23141	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.409609	0.27451	N	0.019320	T	0.50051	0.1593	N	0.17379	0.485	0.25592	N	0.986683	B	0.14438	0.01	B	0.15870	0.014	T	0.22382	-1.0218	10	0.19147	T	0.46	.	3.8709	0.09036	0.4081:0.3547:0.0:0.2372	.	381	Q8N1P7	AIM1L_HUMAN	T	552;381	ENSP00000433931:A552T;ENSP00000310435:A381T	ENSP00000310435:A381T	A	-	1	0	AIM1L	26530605	0.026000	0.19158	0.316000	0.25252	0.297000	0.27493	-0.031000	0.12287	0.022000	0.15160	-0.216000	0.12614	GCC		0.572	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		7	27	0	0	0	1	0	7	27				
UBE2Z	65264	broad.mit.edu	37	17	47004470	47004470	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47004470G>T	ENST00000360943.5	+	7	1174	c.1039G>T	c.(1039-1041)Gac>Tac	p.D347Y		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	347					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										GACAGAGACAGACCTTCATGG	0.552																																						ENST00000360943.5																			0											c.(1039-1041)Gac>Tac		ubiquitin-conjugating enzyme E2Z							79.0	70.0	73.0					17																	47004470		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47004470G>T	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.1039G>T	17.37:g.47004470G>T	ENSP00000354201:p.Asp347Tyr						p.D347Y	NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN			7	1174	+			347					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.1039G>T	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200941	0.79015	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.80214	-1.35	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.88687	0.3206	10	0.72032	D	0.01	-7.0194	19.2517	0.93926	0.0:0.0:1.0:0.0	.	347	Q9H832	UBE2Z_HUMAN	Y	347;280	ENSP00000354201:D347Y	ENSP00000354201:D347Y	D	+	1	0	UBE2Z	44359469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.100000	0.94213	2.880000	0.98712	0.650000	0.86243	GAC		0.552	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2	NM_023079		10	9	1	0	2.17888e-05	1	2.24846e-05	10	9				
RUFY4	285180	broad.mit.edu	37	2	218953985	218953985	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:218953985C>T	ENST00000344321.7	+	12	2031	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.R525C	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	505							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGAAGGACCGCCTGTGGCA	0.537																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1573-1575)Cgc>Tgc		RUN and FYVE domain containing 4							46.0	48.0	47.0					2																	218953985		1913	4144	6057	SO:0001583	missense	285180						metal ion binding	g.chr2:218953985C>T	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1513C>T	2.37:g.218953985C>T	ENSP00000345900:p.Arg505Cys					RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.R505C	p.R525C			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1983	+		Renal(207;0.0915)	505					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1573C>T		.	.	.	.	.	.	.	.	.	.	C	12.06	1.823669	0.32237	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.45668	1.46;0.89	4.92	-0.881	0.10607	Zinc finger, FYVE/PHD-type (1);	2.143360	0.01794	N	0.032486	T	0.33206	0.0855	L	0.44542	1.39	0.09310	N	1	B	0.29909	0.261	B	0.27796	0.083	T	0.16012	-1.0417	10	0.56958	D	0.05	0.0175	2.2826	0.04118	0.2383:0.256:0.3874:0.1184	.	505	Q6ZNE9	RUFY4_HUMAN	C	505;525	ENSP00000345900:R505C;ENSP00000363270:R525C	ENSP00000345900:R505C	R	+	1	0	RUFY4	218662230	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	-0.373000	0.07494	-0.318000	0.08665	0.555000	0.69702	CGC		0.537	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	13	0	0	0	1	0	7	13				
CAPRIN1	4076	broad.mit.edu	37	11	34107948	34107948	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:34107948G>A	ENST00000341394.4	+	11	1408	c.1219G>A	c.(1219-1221)Gtt>Att	p.V407I	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.V326I|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V407I	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	407					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCCCCAGCTGGTTTGCCCTCC	0.378																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(1219-1221)Gtt>Att		cell cycle associated protein 1							78.0	75.0	76.0					11																	34107948		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34107948G>A	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1219G>A	11.37:g.34107948G>A	ENSP00000340329:p.Val407Ile					CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.V326I|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V407I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V407I	p.V407I	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			11	1408	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	407					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1219G>A	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.219069	0.58560	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	6.03	6.03	0.97812	.	0.054806	0.64402	D	0.000001	T	0.37433	0.1003	M	0.66939	2.045	0.44595	D	0.997564	P;B	0.34462	0.454;0.4	B;B	0.38156	0.266;0.173	T	0.06320	-1.0833	10	0.32370	T	0.25	-6.9056	15.3096	0.74019	0.0:0.0:0.8601:0.1398	.	407;407	Q14444;Q14444-2	CAPR1_HUMAN;.	I	407;407;407;407;326	ENSP00000340329:V407I;ENSP00000374296:V407I;ENSP00000434150:V407I;ENSP00000434204:V407I;ENSP00000431581:V326I	ENSP00000340329:V407I	V	+	1	0	CAPRIN1	34064524	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.500000	0.81588	2.868000	0.98415	0.557000	0.71058	GTT		0.378	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		16	22	0	0	0	1	0	16	22				
INTS1	26173	broad.mit.edu	37	7	1522221	1522221	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1522221G>A	ENST00000404767.3	-	27	3749	c.3664C>T	c.(3664-3666)Cgc>Tgc	p.R1222C	INTS1_ENST00000389470.4_Missense_Mutation_p.R1384C	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1222					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGATCATGCGCAGCTTCAGC	0.667																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(4150-4152)Cgc>Tgc		integrator complex subunit 1							46.0	56.0	52.0					7																	1522221		2121	4240	6361	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1522221G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3664C>T	7.37:g.1522221G>A	ENSP00000385722:p.Arg1222Cys					INTS1_ENST00000404767.3_Missense_Mutation_p.R1222C	p.R1384C			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	28	4149	-		Ovarian(82;0.0253)	1222					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.4150C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657147	0.88154	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.59772	0.24;0.37	4.66	4.66	0.58398	.	0.000000	0.45606	U	0.000346	T	0.70806	0.3266	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.76599	-0.2900	10	0.87932	D	0	.	17.5591	0.87901	0.0:0.0:1.0:0.0	.	1222	Q8N201	INT1_HUMAN	C	1222;1384	ENSP00000385722:R1222C;ENSP00000374121:R1384C	ENSP00000374121:R1384C	R	-	1	0	INTS1	1488747	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.901000	0.69861	2.150000	0.67090	0.555000	0.69702	CGC		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			19	22	0	0	0	1	0	19	22				
DFNA5	1687	broad.mit.edu	37	7	24742390	24742390	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24742390G>A	ENST00000342947.3	-	9	1671	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	DFNA5_ENST00000419307.1_Silent_p.L252L|DFNA5_ENST00000409970.1_Silent_p.L252L|DFNA5_ENST00000409775.3_Silent_p.L416L|DFNA5_ENST00000545231.1_Silent_p.L252L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	416					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAGTGGCACAGTGTGGGAATG	0.502																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(754-756)Ctg>Ttg		deafness, autosomal dominant 5							120.0	115.0	117.0					7																	24742390		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24742390G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1246C>T	7.37:g.24742390G>A						DFNA5_ENST00000409970.1_Silent_p.L252L|DFNA5_ENST00000409775.3_Silent_p.L416L|DFNA5_ENST00000419307.1_Silent_p.L252L|DFNA5_ENST00000342947.3_Silent_p.L416L	p.L252L			O60443	DFNA5_HUMAN			11	1904	-			416					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.754C>T	CCDS5389.1																																																																																				0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		17	37	0	0	0	1	0	17	37				
MCOLN1	57192	broad.mit.edu	37	19	7595240	7595240	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7595240G>A	ENST00000264079.6	+	12	1553	c.1428G>A	c.(1426-1428)acG>acA	p.T476T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTTTGTGACGTTCGCCGCCA	0.607																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1426-1428)acG>acA		mucolipin 1							216.0	203.0	207.0					19																	7595240		2203	4300	6503	SO:0001819	synonymous_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595240G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1428G>A	19.37:g.7595240G>A							p.T476T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1553	+			476					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	c.1428G>A	CCDS12180.1																																																																																				0.607	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		52	86	0	0	0	1	0	52	86				
MCM8	84515	broad.mit.edu	37	20	5958549	5958549	+	Missense_Mutation	SNP	G	G	A	rs376216985		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5958549G>A	ENST00000378896.3	+	13	1800	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	MCM8_ENST00000378886.2_Missense_Mutation_p.V515M|MCM8_ENST00000265187.4_Missense_Mutation_p.V459M|MCM8_ENST00000378883.1_Missense_Mutation_p.V428M	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	475	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCCACGTGGCGTGTATGTTTG	0.453																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1423-1425)Gtg>Atg		minichromosome maintenance complex component 8		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	92.0	98.0		1423,1375	4.8	0.9	20		98	0,8600		0,0,4300	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	475/841,459/825	5958549	1,13005	2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5958549G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1423G>A	20.37:g.5958549G>A	ENSP00000368174:p.Val475Met					MCM8_ENST00000378886.2_Missense_Mutation_p.V515M|MCM8_ENST00000378883.1_Missense_Mutation_p.V428M|MCM8_ENST00000265187.4_Missense_Mutation_p.V459M	p.V475M	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			13	1800	+			475			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1423G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138135	0.77775	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.12569	2.67;2.95;2.67;2.67	5.73	4.78	0.61160	ATPase, AAA+ type, core (1);	0.121201	0.56097	D	0.000031	T	0.45316	0.1336	M	0.92268	3.29	0.54753	D	0.999985	D;D;D;D	0.71674	0.998;0.997;0.977;0.998	P;D;P;D	0.66602	0.86;0.934;0.746;0.945	T	0.59925	-0.7362	10	0.87932	D	0	-9.1474	14.4691	0.67504	0.0704:0.0:0.9296:0.0	.	428;515;459;475	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	M	475;428;515;459	ENSP00000368174:V475M;ENSP00000368161:V428M;ENSP00000368164:V515M;ENSP00000265187:V459M	ENSP00000265187:V459M	V	+	1	0	MCM8	5906549	1.000000	0.71417	0.904000	0.35570	0.956000	0.61745	4.889000	0.63171	1.413000	0.46997	0.650000	0.86243	GTG		0.453	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		3	43	0	0	0	1	0	3	43				
P2RY2	5029	broad.mit.edu	37	11	72945874	72945874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945874C>T	ENST00000311131.2	+	3	1137	c.670C>T	c.(670-672)Cga>Tga	p.R224*	P2RY2_ENST00000393596.2_Nonsense_Mutation_p.R224*|P2RY2_ENST00000393597.2_Nonsense_Mutation_p.R224*	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	224					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CATGGCTCGGCGACTGCTAAA	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(670-672)Cga>Tga		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						57.0	53.0	55.0					11																	72945874		2200	4293	6493	SO:0001587	stop_gained	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945874C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.670C>T	11.37:g.72945874C>T	ENSP00000310305:p.Arg224*					P2RY2_ENST00000393597.2_Nonsense_Mutation_p.R224*|P2RY2_ENST00000393596.2_Nonsense_Mutation_p.R224*	p.R224*	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1137	+			224					B2R9W3|Q96EM8	Nonsense_Mutation	SNP	ENST00000311131.2	37	c.670C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000629	0.97189	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	.	.	.	4.42	3.47	0.39725	.	0.197302	0.41712	D	0.000833	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6121	0.51066	0.4907:0.5092:0.0:0.0	.	.	.	.	X	224	.	ENSP00000310305:R224X	R	+	1	2	P2RY2	72623522	0.908000	0.30866	0.907000	0.35723	0.751000	0.42716	0.544000	0.23253	0.917000	0.36895	0.561000	0.74099	CGA		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		11	23	0	0	0	1	0	11	23				
BRIP1	83990	broad.mit.edu	37	17	59878708	59878708	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:59878708G>A	ENST00000259008.2	-	8	1313	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	BRIP1_ENST00000577598.1_Missense_Mutation_p.A349V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		A -> P (in FANCJ; destabilizes iron- sulfur-binding and abolishes helicase activity). {ECO:0000269|PubMed:16116424, ECO:0000269|PubMed:20639400}.		DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATATGGACAGGCCTTTAGTTT	0.408			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1045-1047)gCc>gTc	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							236.0	231.0	233.0					17																	59878708		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59878708G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1046C>T	17.37:g.59878708G>A	ENSP00000259008:p.Ala349Val					BRIP1_ENST00000577598.1_Missense_Mutation_p.A349V	p.A349V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			8	1313	-			349		A -> P (in FANCJ).	Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1046C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058149	0.76074	.	.	ENSG00000136492	ENST00000259008	T	0.69561	-0.41	5.0	5.0	0.66597	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.244722	0.41194	D	0.000924	T	0.70116	0.3187	L	0.35793	1.09	0.36734	D	0.881856	D	0.63880	0.993	P	0.56278	0.795	T	0.72808	-0.4181	9	.	.	.	-5.1017	17.6345	0.88118	0.0:0.0:1.0:0.0	.	349	Q9BX63	FANCJ_HUMAN	V	349	ENSP00000259008:A349V	.	A	-	2	0	BRIP1	57233490	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.986000	0.70563	2.472000	0.83506	0.462000	0.41574	GCC		0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		60	74	0	0	0	1	0	60	74				
ADCY8	114	broad.mit.edu	37	8	132051856	132051856	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132051856G>T	ENST00000286355.5	-	1	2816	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	ADCY8_ENST00000377928.3_Missense_Mutation_p.L242M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	242					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTACTGCAGGTACGTGTGG	0.647										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(724-726)Ctg>Atg		adenylate cyclase 8 (brain)							57.0	50.0	52.0					8																	132051856		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051856G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.724C>A	8.37:g.132051856G>T	ENSP00000286355:p.Leu242Met	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.L242M	p.L242M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2816	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		242						Missense_Mutation	SNP	ENST00000286355.5	37	c.724C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601083	0.46423	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.48836	0.8;0.8	5.46	4.58	0.56647	.	0.000000	0.64402	D	0.000008	T	0.61426	0.2346	L	0.52573	1.65	0.41166	D	0.986131	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.62632	-0.6813	10	0.49607	T	0.09	.	13.161	0.59544	0.0768:0.0:0.9232:0.0	.	242;242	E7EVL1;P40145	.;ADCY8_HUMAN	M	242	ENSP00000286355:L242M;ENSP00000367161:L242M	ENSP00000286355:L242M	L	-	1	2	ADCY8	132121038	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.876000	0.56115	1.318000	0.45170	0.455000	0.32223	CTG		0.647	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	17	1	0	1	1	1	5	17				
SATB1	6304	broad.mit.edu	37	3	18462459	18462459	+	Start_Codon_SNP	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:18462459T>C	ENST00000338745.6	-	2	1735	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Start_Codon_SNP_p.M1V|SATB1_ENST00000493952.2_Start_Codon_SNP_p.M1V|SATB1_ENST00000454909.2_Start_Codon_SNP_p.M1V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	1					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAATGATCCATACTCAGTCAC	0.443																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1-3)Atg>Gtg		SATB homeobox 1							78.0	82.0	80.0					3																	18462459		2203	4300	6503	SO:0001582	initiator_codon_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18462459T>C		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1A>G	3.37:g.18462459T>C	ENSP00000341024:p.Met1Val					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Start_Codon_SNP_p.M1V|SATB1_ENST00000417717.2_Start_Codon_SNP_p.M1V|SATB1_ENST00000493952.2_Start_Codon_SNP_p.M1V	p.M1V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			2	1735	-			1					B3KXF1|C9JTR6|Q59EQ0	Translation_Start_Site	SNP	ENST00000338745.6	37	c.1A>G	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530614	0.85706	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341;ENST00000450898	T;T;T	0.46063	0.89;0.89;0.88	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	.	.	.	0.80722	D	1	P;P	0.43578	0.811;0.713	P;P	0.57846	0.828;0.678	T	0.66143	-0.5997	9	0.87932	D	0	0.0105	16.1986	0.82053	0.0:0.0:0.0:1.0	.	1;1	Q01826-2;Q01826	.;SATB1_HUMAN	V	1	ENSP00000341024:M1V;ENSP00000399708:M1V;ENSP00000399518:M1V	ENSP00000341024:M1V	M	-	1	0	SATB1	18437463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.227000	0.72691	0.455000	0.32223	ATG		0.443	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	Missense_Mutation	13	35	0	0	0	1	0	13	35				
SNX13	23161	broad.mit.edu	37	7	17861183	17861183	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:17861183G>T	ENST00000409389.1	-	18	1999	c.1827C>A	c.(1825-1827)acC>acA	p.T609T	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.T598T			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	609	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AACGACGATAGGTTTTCCACA	0.398																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1825-1827)acC>acA		sorting nexin 13							169.0	166.0	167.0					7																	17861183		1934	4125	6059	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17861183G>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1827C>A	7.37:g.17861183G>T						SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Silent_p.T598T	p.T609T			Q9Y5W8	SNX13_HUMAN			18	1999	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		609			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1827C>A																																																																																					0.398	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		34	70	1	0	1.836e-18	1	2.02631e-18	34	70				
KLHDC7A	127707	broad.mit.edu	37	1	18807720	18807720	+	Missense_Mutation	SNP	G	G	A	rs375012792		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:18807720G>A	ENST00000400664.1	+	1	297	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	82	Poly-Arg.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAAGACGTCGGAGGAGC	0.642																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(244-246)cGt>cAt		kelch domain containing 7A		G	HIS/ARG	1,4001		0,1,2000	18.0	21.0	20.0		245	4.7	0.4	1		20	0,8326		0,0,4163	no	missense	KLHDC7A	NM_152375.2	29	0,1,6163	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	82/778	18807720	1,12327	2001	4163	6164	SO:0001583	missense	127707					integral to membrane		g.chr1:18807720G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.245G>A	1.37:g.18807720G>A	ENSP00000383505:p.Arg82His						p.R82H	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	297	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	82			Poly-Arg.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.245G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363504	0.82353	2.5E-4	0.0	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.77620	-1.11	5.63	4.72	0.59763	.	.	.	.	.	T	0.59059	0.2166	N	0.24115	0.695	0.24055	N	0.996032	P	0.47106	0.89	B	0.31101	0.124	T	0.56056	-0.8042	9	0.87932	D	0	.	9.2189	0.37364	0.1663:0.0:0.8337:0.0	.	82	Q5VTJ3	KLD7A_HUMAN	H	82;19	ENSP00000383505:R82H	ENSP00000383505:R82H	R	+	2	0	KLHDC7A	18680307	0.001000	0.12720	0.417000	0.26559	0.101000	0.19017	0.749000	0.26320	1.517000	0.48917	0.591000	0.81541	CGT		0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	9	0	0	0	1	0	6	9				
TET3	200424	broad.mit.edu	37	2	74327724	74327724	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74327724C>T	ENST00000409262.3	+	9	3404	c.3404C>T	c.(3403-3405)aCc>aTc	p.T1135I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1135					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGCCTGACCTCCGTCAAT	0.577																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3403-3405)aCc>aTc		tet methylcytosine dioxygenase 3							74.0	80.0	78.0					2																	74327724		2149	4263	6412	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74327724C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3404C>T	2.37:g.74327724C>T	ENSP00000386869:p.Thr1135Ile						p.T1135I	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	3404	+			1135					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.3404C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	3.647	-0.072300	0.07228	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12147	2.71	4.93	2.94	0.34122	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.398810	0.04210	N	0.331563	T	0.12860	0.0312	N	0.19112	0.55	0.26733	N	0.97056	B	0.27316	0.175	B	0.21546	0.035	T	0.39143	-0.9628	10	0.54805	T	0.06	.	14.373	0.66854	0.0:0.7211:0.2789:0.0	.	1135	O43151	TET3_HUMAN	I	1135	ENSP00000386869:T1135I	ENSP00000233310:T1135I	T	+	2	0	TET3	74181232	0.998000	0.40836	0.637000	0.29366	0.613000	0.37349	3.207000	0.51106	1.152000	0.42452	0.655000	0.94253	ACC		0.577	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	10	0	0	0	1	0	3	10				
LNPEP	4012	broad.mit.edu	37	5	96315335	96315335	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96315335C>T	ENST00000231368.5	+	2	1205	c.513C>T	c.(511-513)gcC>gcT	p.A171A	LNPEP_ENST00000395770.3_Silent_p.A157A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	171					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCCCACTGCCGTTGTGCCAC	0.463																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(511-513)gcC>gcT		leucyl/cystinyl aminopeptidase							100.0	96.0	97.0					5																	96315335		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96315335C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.513C>T	5.37:g.96315335C>T						LNPEP_ENST00000395770.3_Silent_p.A157A	p.A171A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1205	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	171					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.513C>T	CCDS4087.1																																																																																				0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		31	45	0	0	0	1	0	31	45				
CAMSAP1	157922	broad.mit.edu	37	9	138710412	138710412	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138710412C>T	ENST00000389532.4	-	13	4074	c.4010G>A	c.(4009-4011)cGc>cAc	p.R1337H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1059H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1348H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1337					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGAGCTCGCGCCGCGCCTT	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4009-4011)cGc>cAc		calmodulin regulated spectrin-associated protein 1							63.0	55.0	58.0					9																	138710412		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710412C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4010G>A	9.37:g.138710412C>T	ENSP00000374183:p.Arg1337His					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1348H|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1059H	p.R1337H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	13	4074	-			1337					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4010G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	32	5.163426	0.94727	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.26518	1.76;1.73;1.75	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.72982	0.87;0.979	T	0.58205	-0.7677	10	0.87932	D	0	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	1337;1348	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	H	1337;1059;1348	ENSP00000374183:R1337H;ENSP00000312463:R1059H;ENSP00000386420:R1348H	ENSP00000312463:R1059H	R	-	2	0	CAMSAP1	137850233	1.000000	0.71417	0.299000	0.25016	0.872000	0.50106	7.706000	0.84615	2.386000	0.81285	0.655000	0.94253	CGC		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		18	26	0	0	0	1	0	18	26				
GCNT4	51301	broad.mit.edu	37	5	74324764	74324764	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74324764G>A	ENST00000322348.4	-	1	1960	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	367					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R367C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTGACAAGGCGAGTCTTACTC	0.468																																						ENST00000322348.4																			1	Substitution - Missense(1)	p.R367C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(1099-1101)Cgc>Tgc		glucosaminyl (N-acetyl) transferase 4, core 2							57.0	57.0	57.0					5																	74324764		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324764G>A	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1099C>T	5.37:g.74324764G>A	ENSP00000317027:p.Arg367Cys						p.R367C	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1960	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	367						Missense_Mutation	SNP	ENST00000322348.4	37	c.1099C>T	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	19.83	3.899440	0.72754	.	.	ENSG00000176928	ENST00000322348	T	0.14266	2.52	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.90483	3.12	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.60632	-0.7225	10	0.87932	D	0	-17.3237	17.5239	0.87794	0.0:0.1237:0.8762:0.0	.	367	Q9P109	GCNT4_HUMAN	C	367	ENSP00000317027:R367C	ENSP00000317027:R367C	R	-	1	0	GCNT4	74360520	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.412000	0.73303	1.563000	0.49615	0.650000	0.86243	CGC		0.468	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		4	37	0	0	0	1	0	4	37				
CEP85L	387119	broad.mit.edu	37	6	118832471	118832471	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:118832471G>A	ENST00000368491.3	-	5	1868	c.1247C>T	c.(1246-1248)gCt>gTt	p.A416V	CEP85L_ENST00000419517.2_Missense_Mutation_p.A416V|CEP85L_ENST00000368488.5_Missense_Mutation_p.A419V|CEP85L_ENST00000392500.3_Missense_Mutation_p.A419V|CEP85L_ENST00000360290.3_Missense_Mutation_p.A314V	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	416						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTGCAAACTAGCCACATAAGA	0.343																																						ENST00000368491.3																			0											c.(1246-1248)gCt>gTt		centrosomal protein 85kDa-like							142.0	129.0	133.0					6																	118832471		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118832471G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1247C>T	6.37:g.118832471G>A	ENSP00000357477:p.Ala416Val					CEP85L_ENST00000368488.5_Missense_Mutation_p.A419V|CEP85L_ENST00000360290.3_Missense_Mutation_p.A314V|CEP85L_ENST00000419517.2_Missense_Mutation_p.A416V|CEP85L_ENST00000392500.3_Missense_Mutation_p.A419V	p.A416V	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			5	1868	-			416					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1247C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134924	0.21123	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.22743	2.74;2.74;2.74;2.26;1.94;2.26	5.8	4.92	0.64577	.	0.552015	0.20047	N	0.100390	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.35272	0.493;0.277;0.328;0.328	B;B;B;B	0.28011	0.085;0.053;0.053;0.053	T	0.25502	-1.0130	10	0.12766	T	0.61	-2.0503	13.007	0.58710	0.0:0.3229:0.6771:0.0	.	419;416;419;416	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	V	416;419;419;419;314;416	ENSP00000357477:A416V;ENSP00000357474:A419V;ENSP00000392131:A419V;ENSP00000376288:A419V;ENSP00000353434:A314V;ENSP00000393317:A416V	ENSP00000353434:A314V	A	-	2	0	C6orf204	118939164	0.990000	0.36364	0.399000	0.26333	0.647000	0.38526	1.837000	0.39201	1.413000	0.46997	0.650000	0.86243	GCT		0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		5	46	0	0	0	1	0	5	46				
HOMEZ	57594	broad.mit.edu	37	14	23745118	23745118	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23745118G>T	ENST00000357460.5	-	2	1483	c.1319C>A	c.(1318-1320)cCa>cAa	p.P440Q	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P442Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P442Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	440	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCGGGTTGATGGTGGTGGTGT	0.567																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(1318-1320)cCa>cAa		homeobox and leucine zipper encoding							121.0	117.0	119.0					14																	23745118		2054	4202	6256	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745118G>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1319C>A	14.37:g.23745118G>T	ENSP00000350049:p.Pro440Gln					HOMEZ_ENST00000431326.2_Missense_Mutation_p.P442Q|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P442Q	p.P440Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1483	-	all_cancers(95;5.54e-06)		440			Pro-rich.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1319C>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183568	0.38609	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25250	1.86;1.81	4.78	4.78	0.61160	.	1.248410	0.06015	U	0.650247	T	0.26919	0.0659	L	0.29908	0.895	0.36642	D	0.876909	D;P	0.53151	0.958;0.93	P;B	0.45506	0.483;0.289	T	0.13282	-1.0515	10	0.20046	T	0.44	-14.6222	15.1114	0.72359	0.0:0.0:1.0:0.0	.	442;440	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Q	440;442	ENSP00000350049:P440Q;ENSP00000406579:P442Q	ENSP00000350049:P440Q	P	-	2	0	HOMEZ	22814958	0.996000	0.38824	0.983000	0.44433	0.847000	0.48162	4.497000	0.60367	2.369000	0.80426	0.655000	0.94253	CCA		0.567	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	10	1	0	0.0215528	1	0.0217053	6	10				
MRPL3	11222	broad.mit.edu	37	3	131186992	131186992	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131186992C>T	ENST00000264995.3	-	9	984	c.837G>A	c.(835-837)aaG>aaA	p.K279K	MRPL3_ENST00000425847.2_Silent_p.K306K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	279					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTATGTTGTGCTTTGTGTTTA	0.284																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(835-837)aaG>aaA		mitochondrial ribosomal protein L3							129.0	130.0	130.0					3																	131186992		2202	4288	6490	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131186992C>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.837G>A	3.37:g.131186992C>T						MRPL3_ENST00000425847.2_Silent_p.K306K	p.K279K	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			9	984	-			279					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.837G>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	9.171	1.021166	0.19433	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.71	0.273	0.15650	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	-14.5997	11.1222	0.48298	0.0:0.6213:0.0:0.3787	.	.	.	.	T	294	.	.	A	-	1	0	MRPL3	132669682	0.495000	0.26051	0.999000	0.59377	0.992000	0.81027	-0.354000	0.07681	0.088000	0.17205	0.585000	0.79938	GCA		0.284	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		22	54	0	0	0	1	0	22	54				
MOV10L1	54456	broad.mit.edu	37	22	50552164	50552164	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50552164G>A	ENST00000262794.5	+	6	914	c.831G>A	c.(829-831)acG>acA	p.T277T	MOV10L1_ENST00000545383.1_Silent_p.T277T|MOV10L1_ENST00000395858.3_Silent_p.T277T|MOV10L1_ENST00000540615.1_Silent_p.T257T|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	277					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CACAGGTGACGCATTTTGGAA	0.413																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(829-831)acG>acA		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							117.0	108.0	111.0					22																	50552164		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552164G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.831G>A	22.37:g.50552164G>A						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.T277T|MOV10L1_ENST00000545383.1_Silent_p.T277T|MOV10L1_ENST00000540615.1_Silent_p.T257T	p.T277T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	914	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	277					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.831G>A	CCDS14084.1																																																																																				0.413	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		16	40	0	0	0	1	0	16	40				
RCHY1	25898	broad.mit.edu	37	4	76434475	76434475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76434475C>T	ENST00000324439.5	-	2	520	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RCHY1_ENST00000513257.1_Missense_Mutation_p.R41H|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Missense_Mutation_p.R19H|RCHY1_ENST00000451788.1_Missense_Mutation_p.R41H|RCHY1_ENST00000514021.1_5'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	41					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGACACAAGCGGCAAGTATA	0.353																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(121-123)cGc>cAc		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							60.0	55.0	57.0					4																	76434475		2203	4299	6502	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76434475C>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.122G>A	4.37:g.76434475C>T	ENSP00000321239:p.Arg41His					RCHY1_ENST00000451788.1_Missense_Mutation_p.R41H|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000513257.1_Missense_Mutation_p.R41H|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Missense_Mutation_p.R19H	p.R41H	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	520	-			41					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.122G>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293162	0.95546	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000512706;ENST00000513257	T;T	0.39229	1.2;1.09	5.7	5.7	0.88788	Zinc finger, CHY-type (2);	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.994;1.0;1.0	D;P;D;D	0.85130	0.937;0.796;0.997;0.996	T	0.68014	-0.5521	10	0.66056	D	0.02	-24.4167	17.3381	0.87288	0.0:1.0:0.0:0.0	.	41;41;41;41	Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.;.;ZN363_HUMAN;.	H	41;41;19;41	ENSP00000321239:R41H;ENSP00000423976:R19H	ENSP00000321239:R41H	R	-	2	0	RCHY1	76653499	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	6.606000	0.74159	2.681000	0.91329	0.650000	0.86243	CGC		0.353	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		8	12	0	0	0	1	0	8	12				
CHST5	23563	broad.mit.edu	37	16	75564025	75564025	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:75564025G>A	ENST00000336257.3	-	3	1652	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CHST5_ENST00000541075.1_Silent_p.P92P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	86					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(256-258)ccC>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							40.0	37.0	38.0					16																	75564025		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564025G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.258C>T	16.37:g.75564025G>A						CHST5_ENST00000541075.1_Silent_p.P92P|RP11-77K12.7_ENST00000460606.1_3'UTR	p.P86P	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1652	-			86					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.258C>T	CCDS10919.1																																																																																				0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		6	14	0	0	0	1	0	6	14				
RTN1	6252	broad.mit.edu	37	14	60194301	60194301	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60194301C>T	ENST00000267484.5	-	3	1436	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	367					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGGTTTCATACGATAATCCCT	0.622																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1099-1101)tcG>tcA		reticulon 1							20.0	18.0	19.0					14																	60194301		2199	4294	6493	SO:0001819	synonymous_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194301C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1101G>A	14.37:g.60194301C>T							p.S367S	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1436	-			367					Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	c.1101G>A	CCDS9740.1																																																																																				0.622	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			10	4	0	0	0	1	0	10	4				
CHID1	66005	broad.mit.edu	37	11	870159	870159	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:870159G>A	ENST00000449825.1	-	12	1401	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	CHID1_ENST00000454838.2_Missense_Mutation_p.R374C|CHID1_ENST00000528581.1_Missense_Mutation_p.R374C|CHID1_ENST00000429789.2_Missense_Mutation_p.R318C|CHID1_ENST00000436108.2_Missense_Mutation_p.R349C|CHID1_ENST00000526714.1_5'Flank|CHID1_ENST00000336845.5_Missense_Mutation_p.R374C|CHID1_ENST00000323541.7_Missense_Mutation_p.R379C|CHID1_ENST00000323578.8_Missense_Mutation_p.R349C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	349					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTCCCACTGCGGCTCCTGCAA	0.662																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(1045-1047)Cgc>Tgc		chitinase domain containing 1							110.0	100.0	103.0					11																	870159		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:870159G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.1045C>T	11.37:g.870159G>A	ENSP00000391255:p.Arg349Cys					CHID1_ENST00000528581.1_Missense_Mutation_p.R374C|CHID1_ENST00000323578.8_Missense_Mutation_p.R349C|CHID1_ENST00000436108.2_Missense_Mutation_p.R349C|CHID1_ENST00000336845.5_Missense_Mutation_p.R374C|CHID1_ENST00000454838.2_Missense_Mutation_p.R374C|CHID1_ENST00000429789.2_Missense_Mutation_p.R318C|CHID1_ENST00000323541.7_Missense_Mutation_p.R379C	p.R349C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1401	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	349					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.1045C>T	CCDS7722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.911433|2.911433	0.52439|0.52439	.|.	.|.	ENSG00000177830|ENSG00000177830	ENST00000529539|ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108	.|T;T;T;T;T;T;T;T	.|0.31769	.|1.48;1.49;1.9;1.49;1.51;1.9;1.9;1.49	3.46|3.46	2.43|2.43	0.29744|0.29744	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.326272	.|0.28908	.|N	.|0.013760	T|T	0.33731|0.33731	0.0873|0.0873	L|L	0.36672|0.36672	1.1|1.1	0.45477|0.45477	D|D	0.998448|0.998448	.|D;D;D;D;D	.|0.76494	.|0.994;0.994;0.999;0.992;0.982	.|P;P;P;P;P	.|0.57548	.|0.778;0.823;0.784;0.729;0.726	T|T	0.08391|0.08391	-1.0724|-1.0724	5|10	.|0.62326	.|D	.|0.03	-25.995|-25.995	7.3609|7.3609	0.26745|0.26745	0.0:0.0:0.7394:0.2606|0.0:0.0:0.7394:0.2606	.|.	.|410;379;318;374;349	.|B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.|.;.;.;.;CHID1_HUMAN	L|C	63|379;349;374;349;318;374;374;349	.|ENSP00000324821:R379C;ENSP00000391255:R349C;ENSP00000398722:R374C;ENSP00000325055:R349C;ENSP00000416034:R318C;ENSP00000435503:R374C;ENSP00000338838:R374C;ENSP00000388156:R349C	.|ENSP00000324821:R379C	P|R	-|-	2|1	0|0	CHID1|CHID1	860159|860159	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.415000|0.415000	0.31203|0.31203	3.049000|3.049000	0.49869|0.49869	1.935000|1.935000	0.56089|0.56089	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.662	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		14	34	0	0	0	1	0	14	34				
APBA2	321	broad.mit.edu	37	15	29346241	29346241	+	Missense_Mutation	SNP	C	C	T	rs575379564		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:29346241C>T	ENST00000558402.1	+	5	753	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	APBA2_ENST00000558259.1_Missense_Mutation_p.R52W|APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	52					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCTGCCCTGCGGCCAGAGAG	0.657																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(154-156)Cgg>Tgg		amyloid beta (A4) precursor protein-binding, family A, member 2							48.0	58.0	55.0					15																	29346241		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346241C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.154C>T	15.37:g.29346241C>T	ENSP00000453293:p.Arg52Trp					APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W	p.R52W			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	753	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	52					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.154C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998797	0.54147	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.49720	0.77	5.25	-0.682	0.11339	.	0.363928	0.24851	N	0.035100	T	0.45054	0.1323	M	0.66939	2.045	0.09310	N	0.999999	D;D;D	0.60160	0.987;0.973;0.973	P;P;P	0.48677	0.586;0.483;0.483	T	0.40213	-0.9575	10	0.87932	D	0	.	4.2578	0.10726	0.5795:0.2278:0.1058:0.0868	.	52;52;52	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	W	52	ENSP00000409312:R52W	ENSP00000219865:R52W	R	+	1	2	APBA2	27133533	0.010000	0.17322	0.018000	0.16275	0.726000	0.41606	0.341000	0.19909	0.153000	0.19213	0.650000	0.86243	CGG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		20	33	0	0	0	1	0	20	33				
PNPLA1	285848	broad.mit.edu	37	6	36269821	36269821	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36269821G>T	ENST00000394571.2	+	6	959	c.959G>T	c.(958-960)gGa>gTa	p.G320V	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G234V|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G225V	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	320					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAGGGGATGGAAGGGGCAGC	0.572											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(958-960)gGa>gTa		patatin-like phospholipase domain containing 1							96.0	97.0	96.0					6																	36269821		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36269821G>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.959G>T	6.37:g.36269821G>T	ENSP00000378072:p.Gly320Val		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000388715.3_Missense_Mutation_p.G225V|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G234V	p.G320V	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	959	+			320					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.959G>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	8.412	0.844491	0.16963	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.28895	1.81;1.81;1.59;1.59	5.54	2.7	0.31948	.	7739.230000	0.00166	N	0.000000	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	B;B	0.21452	0.056;0.024	B;B	0.23419	0.023;0.046	T	0.18935	-1.0321	10	0.45353	T	0.12	-2.2449	4.6606	0.12641	0.0828:0.1497:0.6124:0.155	.	320;234	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	V	225;234;321;320	ENSP00000373367:G225V;ENSP00000321116:G234V;ENSP00000391868:G321V;ENSP00000378072:G320V	ENSP00000321116:G234V	G	+	2	0	PNPLA1	36377799	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.494000	0.22467	0.720000	0.32209	-0.155000	0.13514	GGA		0.572	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		8	22	1	0	2.17888e-05	1	2.24846e-05	8	22				
TDRD1	56165	broad.mit.edu	37	10	115982440	115982440	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115982440C>T	ENST00000369280.1	+	21	3445	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TDRD1_ENST00000251864.2_Silent_p.D995D|TDRD1_ENST00000422662.1_Silent_p.D599D|TDRD1_ENST00000369282.1_Silent_p.D995D|TDRD1_ENST00000369281.2_Silent_p.D881D			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	995	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAATTGGAGACGCATGCTGTG	0.373																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2983-2985)gaC>gaT		tudor domain containing 1							89.0	89.0	89.0					10																	115982440		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115982440C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2985C>T	10.37:g.115982440C>T						TDRD1_ENST00000422662.1_Silent_p.D599D|TDRD1_ENST00000369280.1_Silent_p.D995D|TDRD1_ENST00000369281.2_Silent_p.D881D|TDRD1_ENST00000369282.1_Silent_p.D995D	p.D995D	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	21	3138	+		Colorectal(252;0.172)|Breast(234;0.188)	995			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2985C>T																																																																																					0.373	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			27	46	0	0	0	1	0	27	46				
CYP4F24P	388514	broad.mit.edu	37	19	15880739	15880739	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15880739G>A	ENST00000595525.1	+	0	529																											ACATGAAGGTGTCAGCCTCTG	0.512																																						ENST00000595525.1																			0																																																			0							g.chr19:15880739G>A																													19.37:g.15880739G>A						CYP4F24P_ENST00000587443.2_RNA								0	529	+									RNA	SNP	ENST00000595525.1	37																																																																																						0.512	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000472008.1			6	14	0	0	0	1	0	6	14				
SYNE1	23345	broad.mit.edu	37	6	152771925	152771925	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152771925C>A	ENST00000367255.5	-	27	3831	c.3230G>T	c.(3229-3231)aGg>aTg	p.R1077M	SYNE1_ENST00000367248.3_Missense_Mutation_p.R1067M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1077M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1143M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1084M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1077					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGCTGTAACCTTTTCTCACA	0.453										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(3229-3231)aGg>aTg		spectrin repeat containing, nuclear envelope 1							135.0	133.0	133.0					6																	152771925		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.chr6:152771925C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3230G>T	6.37:g.152771925C>A	ENSP00000356224:p.Arg1077Met	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.R1067M|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1077M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1077M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1143M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1084M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1077M	p.R1077M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3831	-		Ovarian(120;0.0955)	1077					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.3230G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921175	0.92249	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88818	0.53;0.52;0.43;0.52;0.58;-2.29;-2.43;-2.43	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	D	0.92773	0.7702	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.987;0.994;0.999;0.987;0.994	D	0.89610	0.3841	10	0.31617	T	0.26	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1060;1077;1067;1077;1077;1084	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	M	1077;1084;1077;1084;1143;1077;1067;1077	ENSP00000356224:R1077M;ENSP00000396024:R1084M;ENSP00000265368:R1077M;ENSP00000390975:R1084M;ENSP00000341887:R1143M;ENSP00000356222:R1077M;ENSP00000356217:R1067M;ENSP00000414510:R1077M	ENSP00000265368:R1077M	R	-	2	0	SYNE1	152813618	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.894000	0.99253	0.655000	0.94253	AGG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	91	1	0	3.1745e-13	1	3.44526e-13	29	91				
TVP23B	51030	broad.mit.edu	37	17	18694224	18694224	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18694224G>A	ENST00000307767.8	+	3	410	c.111G>A	c.(109-111)tcG>tcA	p.S37S	TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Silent_p.S37S|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	37						integral component of membrane (GO:0016021)											CAGTAGCATCGTTTTTCCACT	0.373																																						ENST00000307767.8																			0											c.(109-111)tcG>tcA		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							129.0	129.0	129.0					17																	18694224		2203	4300	6503	SO:0001819	synonymous_variant	51030							g.chr17:18694224G>A	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.111G>A	17.37:g.18694224G>A						TVP23B_ENST00000574226.1_Silent_p.S37S|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	p.S37S	NM_016078.4	NP_057162.4					3	410	+								A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	c.111G>A	CCDS42274.1																																																																																				0.373	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		5	150	0	0	0	1	0	5	150				
GLB1	2720	broad.mit.edu	37	3	33109737	33109737	+	Missense_Mutation	SNP	G	G	A	rs192732174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33109737G>A	ENST00000399402.3	-	4	483	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	GLB1_ENST00000307363.5_Missense_Mutation_p.R148C|GLB1_ENST00000445488.2_Missense_Mutation_p.R196C|GLB1_ENST00000307377.8_Intron	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	148					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCGGAGGAGCGGAGAAGAATA	0.483																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM000711|CM056963	GLB1	M	rs192732174	c.(442-444)Cgc>Tgc		galactosidase, beta 1							88.0	88.0	88.0					3																	33109737		1868	4091	5959	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109737G>A	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.352C>T	3.37:g.33109737G>A	ENSP00000382333:p.Arg118Cys					GLB1_ENST00000399402.3_Missense_Mutation_p.R118C|GLB1_ENST00000445488.2_Missense_Mutation_p.R196C|GLB1_ENST00000307377.8_Intron	p.R148C	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			4	586	-		Melanoma(143;0.104)	148		R -> C (in GM1G3).|R -> S (in GM1G1).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.442C>T	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355782	0.61293	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97078	0.9782	10	0.87932	D	0	-14.6958	13.4673	0.61263	0.0:0.0:0.8023:0.1976	.	148;148;196	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	C	118;148;196;17	ENSP00000382333:R118C;ENSP00000306920:R148C;ENSP00000393377:R196C;ENSP00000411769:R17C	ENSP00000306920:R148C	R	-	1	0	GLB1	33084741	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	4.658000	0.61497	2.458000	0.83093	0.591000	0.81541	CGC		0.483	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		21	27	0	0	0	1	0	21	27				
PUM1	9698	broad.mit.edu	37	1	31426567	31426567	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:31426567C>T	ENST00000257075.5	-	15	2678	c.2585G>A	c.(2584-2586)gGg>gAg	p.G862E	PUM1_ENST00000424085.2_Missense_Mutation_p.G620E|PUM1_ENST00000373742.2_Missense_Mutation_p.G803E|PUM1_ENST00000426105.2_Missense_Mutation_p.G862E|PUM1_ENST00000373747.3_Missense_Mutation_p.G863E|PUM1_ENST00000373741.4_Missense_Mutation_p.G898E|PUM1_ENST00000423018.2_Missense_Mutation_p.G718E|PUM1_ENST00000440538.2_Missense_Mutation_p.G836E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	862	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCACCTGGACCCATGCTGGTC	0.433																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2587-2589)gGg>gAg		pumilio RNA-binding family member 1							113.0	123.0	119.0					1																	31426567		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31426567C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2585G>A	1.37:g.31426567C>T	ENSP00000257075:p.Gly862Glu					PUM1_ENST00000373742.2_Missense_Mutation_p.G803E|PUM1_ENST00000257075.5_Missense_Mutation_p.G862E|PUM1_ENST00000373741.4_Missense_Mutation_p.G898E|PUM1_ENST00000424085.2_Missense_Mutation_p.G620E|PUM1_ENST00000440538.2_Missense_Mutation_p.G836E|PUM1_ENST00000426105.2_Missense_Mutation_p.G862E|PUM1_ENST00000423018.2_Missense_Mutation_p.G718E	p.G863E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	15	2687	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	862			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2588G>A	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.063592|5.063592|5.063592	0.93898|0.93898|0.93898	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525997|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T|.	0.18502|0.17528|.	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21|2.27|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|.	0.91968|0.91968|.	0.7456|0.7456|.	H|H|H	0.99516|0.99516|0.99516	4.605|4.605|4.605	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|.|.	D|D|.	0.95047|0.95047|.	0.8183|0.8183|.	10|8|.	0.87932|0.87932|.	D|D|.	0|0|.	-7.1181|-7.1181|-7.1181	19.5973|19.5973|19.5973	0.95546|0.95546|0.95546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	803;718;898;836;862;862;863;862|.|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.|.	.;.;.;.;PUM1_HUMAN;.;.;.|.|.	E|S|X	620;862;863;600;862;836;898;718;803;13|9|800;573	ENSP00000400141:G620E;ENSP00000257075:G862E;ENSP00000362852:G863E;ENSP00000391723:G862E;ENSP00000401777:G836E;ENSP00000362846:G898E;ENSP00000399440:G718E;ENSP00000362847:G803E;ENSP00000431213:G13E|ENSP00000433373:G9S|.	ENSP00000257075:G862E|ENSP00000433373:G9S|.	G|G|W	-|-|-	2|1|3	0|0|0	PUM1|PUM1|PUM1	31199154|31199154|31199154	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.738000|2.738000|2.738000	0.93877|0.93877|0.93877	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGT|TGG		0.433	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			22	128	0	0	0	1	0	22	128				
ZNF205	7755	broad.mit.edu	37	16	3165484	3165484	+	Silent	SNP	G	G	A	rs144841352		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3165484G>A	ENST00000382192.3	+	3	391	c.186G>A	c.(184-186)tcG>tcA	p.S62S	ZNF205-AS1_ENST00000576943.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S62S|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGGGGGCATCGCAGGAGGATG	0.612																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(184-186)tcG>tcA		zinc finger protein 205		G	,	0,4394		0,0,2197	47.0	47.0	47.0		186,186	-7.9	0.0	16	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF205	NM_001042428.1,NM_003456.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	62/555,62/555	3165484	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3165484G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.186G>A	16.37:g.3165484G>A						ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S62S	p.S62S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			3	391	+			62					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.186G>A	CCDS10494.2																																																																																				0.612	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		10	34	0	0	0	1	0	10	34				
TLN1	7094	broad.mit.edu	37	9	35707456	35707456	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35707456G>A	ENST00000314888.9	-	36	5015	c.4662C>T	c.(4660-4662)aaC>aaT	p.N1554N	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.N1554N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1554	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGGGCACGGTTCTCCTCTG	0.577																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4660-4662)aaC>aaT		talin 1							45.0	42.0	43.0					9																	35707456		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707456G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4662C>T	9.37:g.35707456G>A						TLN1_ENST00000540444.1_Silent_p.N1554N|TLN1_ENST00000464379.1_Intron	p.N1554N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		36	5015	-	all_epithelial(49;0.167)		1554			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.4662C>T	CCDS35009.1																																																																																				0.577	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		14	16	0	0	0	1	0	14	16				
FBXO10	26267	broad.mit.edu	37	9	37541447	37541447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37541447G>A	ENST00000432825.2	-	2	367	c.319C>T	c.(319-321)Cga>Tga	p.R107*	RP11-613M10.8_ENST00000537239.2_3'UTR|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	107					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGGGTACGTCGTTCCCTCCTC	0.552																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(319-321)Cga>Tga		F-box protein 10							89.0	90.0	90.0					9																	37541447		2057	4195	6252	SO:0001587	stop_gained	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541447G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.319C>T	9.37:g.37541447G>A	ENSP00000403802:p.Arg107*					FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	p.R107*	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	367	-			107					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Nonsense_Mutation	SNP	ENST00000432825.2	37	c.319C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329988	0.24167	.	.	ENSG00000147912	ENST00000432825	.	.	.	5.85	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2152	9.3656	0.38223	0.0685:0.0:0.6742:0.2573	.	.	.	.	X	107	.	ENSP00000276960:R107X	R	-	1	2	FBXO10	37531447	0.998000	0.40836	0.005000	0.12908	0.002000	0.02628	2.498000	0.45363	0.369000	0.24510	-0.907000	0.02831	CGA		0.552	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			19	22	0	0	0	1	0	19	22				
ZNF716	441234	broad.mit.edu	37	7	57522854	57522854	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:57522854A>G	ENST00000420713.1	+	3	354	c.242A>G	c.(241-243)gAg>gGg	p.E81G		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	81	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAGAAATGAGATGGTAGCC	0.413																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(241-243)gAg>gGg		zinc finger protein 716							94.0	75.0	81.0					7																	57522854		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522854A>G	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.242A>G	7.37:g.57522854A>G	ENSP00000394248:p.Glu81Gly						p.E81G	NM_001159279.1	NP_001152751.1					3	354	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.242A>G	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218444	0.39201	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05996	3.36	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.03651	0.0104	N	0.17674	0.51	0.23712	N	0.99705	B	0.33694	0.421	B	0.30646	0.118	T	0.42327	-0.9458	9	0.40728	T	0.16	.	3.8266	0.08856	1.0:0.0:0.0:0.0	.	69	A6NP11	ZN716_HUMAN	G	81;69	ENSP00000394248:E81G	ENSP00000387687:E69G	E	+	2	0	ZNF716	57526796	0.001000	0.12720	0.718000	0.30602	0.720000	0.41350	0.472000	0.22116	0.243000	0.21327	0.240000	0.17902	GAG		0.413	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		21	49	0	0	0	1	0	21	49				
DENND2A	27147	broad.mit.edu	37	7	140301970	140301970	+	Silent	SNP	C	C	T	rs201482531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140301970C>T	ENST00000275884.6	-	2	645	c.228G>A	c.(226-228)ccG>ccA	p.P76P	DENND2A_ENST00000537639.1_Silent_p.P76P|DENND2A_ENST00000492720.1_Silent_p.P76P|DENND2A_ENST00000496613.1_Silent_p.P76P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	76					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCGTAGAGGACGGCAGATAAT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0					ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(226-228)ccG>ccA		DENN/MADD domain containing 2A							164.0	159.0	160.0					7																	140301970		1991	4177	6168	SO:0001819	synonymous_variant	27147							g.chr7:140301970C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.228G>A	7.37:g.140301970C>T						DENND2A_ENST00000537639.1_Silent_p.P76P|DENND2A_ENST00000492720.1_Silent_p.P76P|DENND2A_ENST00000496613.1_Silent_p.P76P	p.P76P			Q9ULE3	DEN2A_HUMAN			2	645	-	Melanoma(164;0.00956)		76					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.228G>A	CCDS43659.1																																																																																				0.532	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		15	71	0	0	0	1	0	15	71				
CRB2	286204	broad.mit.edu	37	9	126136916	126136916	+	Missense_Mutation	SNP	T	T	C	rs202022214	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126136916T>C	ENST00000373631.3	+	11	3449	c.3448T>C	c.(3448-3450)Tgt>Cgt	p.C1150R	CRB2_ENST00000373629.2_Missense_Mutation_p.C818R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1150	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGCAGCCCATGTGAGGGTGG	0.632													T|||	2	0.000399361	0.0	0.0	5008	,	,		20183	0.002		0.0	False		,,,				2504	0.0					ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3448-3450)Tgt>Cgt		crumbs homolog 2 (Drosophila)							65.0	56.0	59.0					9																	126136916		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126136916T>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3448T>C	9.37:g.126136916T>C	ENSP00000362734:p.Cys1150Arg					CRB2_ENST00000373629.2_Missense_Mutation_p.C818R	p.C1150R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			11	3449	+			1150			EGF-like 14.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.3448T>C	CCDS6852.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	19.73	3.882749	0.72410	.	.	ENSG00000148204	ENST00000373631;ENST00000373629	D;D	0.95103	-2.32;-3.61	5.02	5.02	0.67125	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.46145	D	0.000311	D	0.98033	0.9352	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99342	1.0912	10	0.87932	D	0	.	14.7426	0.69467	0.0:0.0:0.0:1.0	.	1150	Q5IJ48	CRUM2_HUMAN	R	1150;818	ENSP00000362734:C1150R;ENSP00000362732:C818R	ENSP00000362732:C818R	C	+	1	0	CRB2	125176737	1.000000	0.71417	0.044000	0.18714	0.003000	0.03518	6.082000	0.71318	1.878000	0.54408	0.459000	0.35465	TGT		0.632	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		8	20	0	0	0	1	0	8	20				
DDX3X	1654	broad.mit.edu	37	X	41205566	41205566	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:41205566C>T	ENST00000399959.2	+	13	2255	c.1400C>T	c.(1399-1401)gCa>gTa	p.A467V	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A451V|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	467	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAAGGATACGCATGTACCAGC	0.463										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1399-1401)gCa>gTa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							128.0	121.0	124.0					X																	41205566		2199	4300	6499	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205566C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1400C>T	X.37:g.41205566C>T	ENSP00000382840:p.Ala467Val	HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A451V	p.A467V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			13	2255	+			467			Helicase C-terminal.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1400C>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366537	0.82463	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.75367	-0.93;-0.93	5.41	5.41	0.78517	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	L	0.31371	0.925	0.80722	D	1	B;P;P	0.50156	0.26;0.769;0.932	B;B;B	0.31290	0.044;0.127;0.127	T	0.69935	-0.5010	10	0.72032	D	0.01	-13.4016	18.3066	0.90184	0.0:1.0:0.0:0.0	.	451;479;467	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	V	467;451	ENSP00000382840:A467V;ENSP00000392494:A451V	ENSP00000382840:A467V	A	+	2	0	DDX3X	41090510	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.771000	0.85420	2.262000	0.75019	0.600000	0.82982	GCA		0.463	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		9	17	0	0	0	1	0	9	17				
DGCR14	8220	broad.mit.edu	37	22	19124849	19124849	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19124849C>A	ENST00000252137.6	-	8	1065	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	341					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAAAGCTGGGCCGGGTGTCCT	0.612																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(1021-1023)gGc>gTc		DiGeorge syndrome critical region gene 14							193.0	175.0	181.0					22																	19124849		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19124849C>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1022G>T	22.37:g.19124849C>A	ENSP00000252137:p.Gly341Val						p.G341V	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			8	1065	-	Colorectal(54;0.0993)		341					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.1022G>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029852	0.54790	.	.	ENSG00000100056	ENST00000252137	T	0.45276	0.9	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76219	-0.3039	10	0.72032	D	0.01	-30.3839	17.8175	0.88639	0.0:1.0:0.0:0.0	.	341	Q96DF8	DGC14_HUMAN	V	341	ENSP00000252137:G341V	ENSP00000252137:G341V	G	-	2	0	DGCR14	17504849	1.000000	0.71417	0.397000	0.26308	0.020000	0.10135	7.000000	0.76290	2.549000	0.85964	0.491000	0.48974	GGC		0.612	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			59	57	1	0	4.90955e-16	1	5.38364e-16	59	57				
MYOM2	9172	broad.mit.edu	37	8	2021562	2021562	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2021562G>A	ENST00000262113.4	+	10	1243	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	368	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGACCACAGCGCCTTCCTGTT	0.677																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1102-1104)Gcc>Acc		myomesin 2							40.0	35.0	37.0					8																	2021562		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021562G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1102G>A	8.37:g.2021562G>A	ENSP00000262113:p.Ala368Thr					MYOM2_ENST00000523438.1_Intron	p.A368T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1243	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	368			Ig-like C2-type 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1102G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866671	0.91511	.	.	ENSG00000036448	ENST00000262113	T	0.70399	-0.48	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.64997	1.995	0.80722	D	1	D	0.62365	0.991	P	0.61722	0.893	T	0.78303	-0.2256	10	0.30078	T	0.28	.	18.0821	0.89444	0.0:0.0:1.0:0.0	.	368	P54296	MYOM2_HUMAN	T	368	ENSP00000262113:A368T	ENSP00000262113:A368T	A	+	1	0	MYOM2	2008969	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	9.433000	0.97501	2.237000	0.73441	0.655000	0.94253	GCC		0.677	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	21	0	0	0	1	0	16	21				
EXTL3	2137	broad.mit.edu	37	8	28573869	28573869	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28573869C>T	ENST00000220562.4	+	3	1195	c.293C>T	c.(292-294)gCc>gTc	p.A98V	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGCTGGAGGCCAAGCGCCAA	0.592																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(292-294)gCc>gTc		exostosin-like glycosyltransferase 3							54.0	51.0	52.0					8																	28573869		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573869C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.293C>T	8.37:g.28573869C>T	ENSP00000220562:p.Ala98Val					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.A98V	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1195	+		Ovarian(32;0.069)	98					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.293C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456062	0.84209	.	.	ENSG00000012232	ENST00000220562	D	0.95656	-3.77	5.53	5.53	0.82687	.	0.050414	0.85682	D	0.000000	D	0.95182	0.8438	L	0.46157	1.445	0.80722	D	1	D	0.54772	0.968	P	0.50231	0.635	D	0.94187	0.7437	9	.	.	.	-22.9435	19.4523	0.94872	0.0:1.0:0.0:0.0	.	98	O43909	EXTL3_HUMAN	V	98	ENSP00000220562:A98V	.	A	+	2	0	EXTL3	28629788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.600000	0.87896	0.491000	0.48974	GCC		0.592	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		7	18	0	0	0	1	0	7	18				
DHPS	1725	broad.mit.edu	37	19	12786735	12786735	+	Missense_Mutation	SNP	C	C	T	rs200920073		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12786735C>T	ENST00000210060.7	-	9	1162	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	DHPS_ENST00000594424.1_Missense_Mutation_p.A301T|DHPS_ENST00000351660.5_Missense_Mutation_p.A296T	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	343					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						ACCAGGGAGGCGTCAGCATAG	0.602											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17948	0.0		0.001	False		,,,				2504	0.0					ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(1027-1029)Gcc>Acc		deoxyhypusine synthase	Sulfadoxine(DB01299)						49.0	46.0	47.0					19																	12786735		2203	4300	6503	SO:0001583	missense	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12786735C>T	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.1027G>A	19.37:g.12786735C>T	ENSP00000210060:p.Ala343Thr		OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682	DHPS_ENST00000594424.1_Missense_Mutation_p.A301T|DHPS_ENST00000351660.5_Missense_Mutation_p.A296T	p.A343T	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			9	1162	-			343					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.1027G>A	CCDS12276.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.8	4.337915	0.81911	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.59906	0.23;0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.97;0.989	D	0.89336	0.3650	10	0.87932	D	0	-25.859	17.092	0.86624	0.0:1.0:0.0:0.0	.	296;343	P49366-2;P49366	.;DHYS_HUMAN	T	343;296	ENSP00000210060:A343T;ENSP00000221303:A296T	ENSP00000210060:A343T	A	-	1	0	DHPS	12647735	1.000000	0.71417	0.995000	0.50966	0.294000	0.27393	6.908000	0.75730	2.644000	0.89710	0.561000	0.74099	GCC		0.602	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		8	19	0	0	0	1	0	8	19				
TMEM180	79847	broad.mit.edu	37	10	104235671	104235671	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104235671G>A	ENST00000238936.4	+	10	1721	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	TMEM180_ENST00000366277.2_Missense_Mutation_p.R224H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	495						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATGGGAGACGCCTGCACATG	0.607																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(1483-1485)cGc>cAc		transmembrane protein 180							38.0	32.0	34.0					10																	104235671		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104235671G>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1484G>A	10.37:g.104235671G>A	ENSP00000238936:p.Arg495His					TMEM180_ENST00000366277.2_Missense_Mutation_p.R224H	p.R495H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	10	1721	+		Colorectal(252;0.122)	495					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.1484G>A	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	g	14.14	2.445109	0.43429	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	3.89	0.44902	.	0.259259	0.42821	D	0.000645	T	0.50871	0.1641	L	0.41824	1.3	0.42608	D	0.993305	B	0.12013	0.005	B	0.08055	0.003	T	0.44283	-0.9338	9	0.26408	T	0.33	.	12.4269	0.55553	0.0858:0.0:0.9142:0.0	.	495	Q14CX5	TM180_HUMAN	H	224;495;224	.	ENSP00000238936:R495H	R	+	2	0	TMEM180	104225661	1.000000	0.71417	0.577000	0.28562	0.870000	0.49936	2.503000	0.45407	1.111000	0.41721	0.306000	0.20318	CGC		0.607	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		7	9	0	0	0	1	0	7	9				
UNC45A	55898	broad.mit.edu	37	15	91488122	91488122	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91488122G>A	ENST00000418476.2	+	9	1068	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	UNC45A_ENST00000394275.2_Splice_Site_p.G328D	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	343					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTCTTTACAGGTCTGAAAAAG	0.507																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e12-1		unc-45 homolog A (C. elegans)							63.0	72.0	69.0					15																	91488122		2198	4298	6496	SO:0001630	splice_region_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488122G>A		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1028-1G>A	15.37:g.91488122G>A						UNC45A_ENST00000418476.2_Splice_Site_p.G343_splice	p.G328_splice	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		12	1818	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		343					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Splice_Site	SNP	ENST00000418476.2	37	c.982_splice	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031445	0.93575	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.33654	1.41;1.4	5.81	5.81	0.92471	Armadillo-like helical (1);	0.099482	0.64402	D	0.000001	T	0.64505	0.2604	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64118	-0.6482	9	.	.	.	.	18.9095	0.92477	0.0:0.0:1.0:0.0	.	343;328	Q9H3U1;A8K6F7	UN45A_HUMAN;.	D	328;343	ENSP00000377816:G328D;ENSP00000407487:G343D	.	G	+	2	0	UNC45A	89289126	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.776000	0.99001	2.763000	0.94921	0.650000	0.86243	GGT		0.507	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	Missense_Mutation	12	21	0	0	0	1	0	12	21				
TNC	3371	broad.mit.edu	37	9	117853142	117853142	+	Silent	SNP	G	G	A	rs7038329	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117853142G>A	ENST00000350763.4	-	2	567	c.156C>T	c.(154-156)caC>caT	p.H52H	TNC_ENST00000535648.1_Silent_p.H52H|TNC_ENST00000341037.4_Silent_p.H52H|TNC_ENST00000537320.1_Silent_p.H52H|TNC_ENST00000345230.3_Silent_p.H52H|TNC_ENST00000340094.3_Silent_p.H52H|TNC_ENST00000423613.2_Silent_p.H52H|TNC_ENST00000346706.3_Silent_p.H52H|TNC_ENST00000542877.1_Silent_p.H52H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	52					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTTGTAAACGTGGTTAAACA	0.572													G|||	24	0.00479233	0.0174	0.0	5008	,	,		18331	0.0		0.001	False		,,,				2504	0.0					ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(154-156)caC>caT		tenascin C		G		54,4352	54.9+/-90.9	0,54,2149	104.0	102.0	103.0		156	-9.7	0.5	9	dbSNP_116	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNC	NM_002160.3		0,55,6448	AA,AG,GG		0.0116,1.2256,0.4229		52/2202	117853142	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117853142G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.156C>T	9.37:g.117853142G>A						TNC_ENST00000345230.3_Silent_p.H52H|TNC_ENST00000423613.2_Silent_p.H52H|TNC_ENST00000535648.1_Silent_p.H52H|TNC_ENST00000537320.1_Silent_p.H52H|TNC_ENST00000346706.3_Silent_p.H52H|TNC_ENST00000340094.3_Silent_p.H52H|TNC_ENST00000542877.1_Silent_p.H52H|TNC_ENST00000341037.4_Silent_p.H52H	p.H52H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	567	-			52					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.156C>T	CCDS6811.1																																																																																				0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		27	52	0	0	0	1	0	27	52				
SLC26A7	115111	broad.mit.edu	37	8	92401619	92401619	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92401619A>G	ENST00000276609.3	+	16	1968	c.1729A>G	c.(1729-1731)Agt>Ggt	p.S577G	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S577G|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S577G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTGGATTGCAGTGGATTTAC	0.388																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1729-1731)Agt>Ggt		solute carrier family 26 (anion exchanger), member 7							347.0	321.0	330.0					8																	92401619		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92401619A>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1729A>G	8.37:g.92401619A>G	ENSP00000276609:p.Ser577Gly					SLC26A7_ENST00000309536.2_Missense_Mutation_p.S577G|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S577G|SLC26A7_ENST00000520249.1_3'UTR	p.S577G	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		16	1968	+			577			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1729A>G	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806398	0.50421	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.95518	-3.73;-3.73;-3.73	5.62	4.46	0.54185	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.064020	0.64402	D	0.000005	D	0.93700	0.7987	M	0.65975	2.015	0.35509	D	0.800461	P;B	0.35272	0.493;0.324	B;B	0.36504	0.145;0.226	D	0.93501	0.6844	10	0.37606	T	0.19	.	10.8853	0.46964	0.86:0.0:0.0:0.14	.	577;577	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	G	577	ENSP00000428849:S577G;ENSP00000276609:S577G;ENSP00000309504:S577G	ENSP00000276609:S577G	S	+	1	0	SLC26A7	92470795	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.078000	0.50096	0.946000	0.37632	0.460000	0.39030	AGT		0.388	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			19	116	0	0	0	1	0	19	116				
STK40	83931	broad.mit.edu	37	1	36809556	36809556	+	Silent	SNP	G	G	A	rs374295999		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36809556G>A	ENST00000373129.3	-	10	1315	c.909C>T	c.(907-909)acC>acT	p.T303T	STK40_ENST00000373132.3_Silent_p.T303T|STK40_ENST00000373130.3_Silent_p.T308T|STK40_ENST00000359297.2_Silent_p.T303T	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TGAGACACACGGTGTTCTCAG	0.642																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(907-909)acC>acT		serine/threonine kinase 40				0,4406		0,0,2203	36.0	38.0	37.0		909	-10.1	0.2	1		37	1,8599	813.1+/-407.0	0,1,4299	no	coding-synonymous	STK40	NM_032017.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		303/436	36809556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36809556G>A	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.909C>T	1.37:g.36809556G>A						STK40_ENST00000373129.3_Silent_p.T303T|STK40_ENST00000373130.3_Silent_p.T308T|STK40_ENST00000373132.3_Silent_p.T303T	p.T303T			Q8N2I9	STK40_HUMAN			8	916	-		Myeloproliferative disorder(586;0.0393)	303			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	ENST00000373129.3	37	c.909C>T	CCDS407.1																																																																																				0.642	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		14	23	0	0	0	1	0	14	23				
PPM1E	22843	broad.mit.edu	37	17	57043078	57043078	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57043078C>T	ENST00000308249.2	+	3	736	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.R203S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAATTGGCCCGTTCTGTCTT	0.463																																						ENST00000308249.2																			1	Substitution - Missense(1)	p.R203S(1)	lung(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(607-609)Cgt>Tgt		protein phosphatase, Mg2+/Mn2+ dependent, 1E							205.0	212.0	210.0					17																	57043078		2203	4300	6503	SO:0001583	missense	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57043078C>T	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.607C>T	17.37:g.57043078C>T	ENSP00000312411:p.Arg203Cys						p.R203C	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		3	736	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		212					Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	c.607C>T	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506414	0.85282	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.22539	1.95	5.63	5.63	0.86233	.	0.049577	0.85682	D	0.000000	T	0.31796	0.0808	M	0.65975	2.015	0.80722	D	1	D	0.56968	0.978	B	0.44278	0.445	T	0.13602	-1.0503	10	0.72032	D	0.01	-0.0331	19.6873	0.95984	0.0:1.0:0.0:0.0	.	203	Q8WY54-2	.	C	203;55	ENSP00000312411:R203C	ENSP00000312411:R203C	R	+	1	0	PPM1E	54397860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.650000	0.89964	0.557000	0.71058	CGT		0.463	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		87	168	0	0	0	1	0	87	168				
DSN1	79980	broad.mit.edu	37	20	35399356	35399356	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35399356C>A	ENST00000426836.1	-	3	647	c.275G>T	c.(274-276)aGg>aTg	p.R92M	DSN1_ENST00000373740.3_Missense_Mutation_p.R20M|DSN1_ENST00000373745.3_Missense_Mutation_p.R92M|DSN1_ENST00000448110.2_Missense_Mutation_p.R76M|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.R92M|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	92					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GGATTGCCTCCTGTCTTGATA	0.507																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(274-276)aGg>aTg		DSN1, MIS12 kinetochore complex component							150.0	148.0	149.0					20																	35399356		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399356C>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.275G>T	20.37:g.35399356C>A	ENSP00000389810:p.Arg92Met					DSN1_ENST00000373734.4_Intron|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Missense_Mutation_p.R20M|DSN1_ENST00000373745.3_Missense_Mutation_p.R92M|DSN1_ENST00000373750.4_Missense_Mutation_p.R92M|DSN1_ENST00000448110.1_Missense_Mutation_p.R76M	p.R92M	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	647	-		Myeloproliferative disorder(115;0.00874)	92					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.275G>T	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686276	0.68157	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000449595;ENST00000447406	.	.	.	5.12	3.09	0.35607	.	0.207045	0.40908	D	0.001000	T	0.51058	0.1652	L	0.29908	0.895	0.35801	D	0.82315	P	0.51791	0.948	P	0.57548	0.823	T	0.61387	-0.7073	9	0.72032	D	0.01	-13.4184	7.4232	0.27083	0.0:0.79:0.0:0.21	.	92	Q9H410	DSN1_HUMAN	M	92;92;76;25;92;20;76;92	.	ENSP00000362838:R25M	R	-	2	0	DSN1	34832770	0.767000	0.28508	0.992000	0.48379	0.747000	0.42532	0.028000	0.13644	1.310000	0.45006	0.655000	0.94253	AGG		0.507	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		66	67	1	0	6.52717e-41	1	7.33653e-41	66	67				
PIGG	54872	broad.mit.edu	37	4	524247	524247	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:524247G>A	ENST00000453061.2	+	11	2390	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I	PIGG_ENST00000310340.5_Missense_Mutation_p.V754I|PIGG_ENST00000504346.1_Missense_Mutation_p.V673I|PIGG_ENST00000383028.4_Missense_Mutation_p.V629I|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	762					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCTCGTTTTGTTTATGTCTT	0.363																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2284-2286)Gtt>Att		phosphatidylinositol glycan anchor biosynthesis, class G							119.0	120.0	120.0					4																	524247		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524247G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2284G>A	4.37:g.524247G>A	ENSP00000415203:p.Val762Ile					PIGG_ENST00000504346.1_Missense_Mutation_p.V673I|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.V629I|PIGG_ENST00000310340.5_Missense_Mutation_p.V754I	p.V762I	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			11	2390	+			762					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2284G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530073	0.85706	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10005	3.25;3.25;2.93;2.92	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.83275	0.996;0.914;0.961	T	0.01090	-1.1455	10	0.29301	T	0.29	-25.684	17.5138	0.87767	0.0:0.0:1.0:0.0	.	629;762;754	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	I	754;762;673;629	ENSP00000311750:V754I;ENSP00000415203:V762I;ENSP00000424800:V673I;ENSP00000372494:V629I	ENSP00000311750:V754I	V	+	1	0	PIGG	514247	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.834000	0.92094	2.804000	0.96469	0.655000	0.94253	GTT		0.363	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		53	76	0	0	0	1	0	53	76				
RAPGEF1	2889	broad.mit.edu	37	9	134459741	134459741	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134459741G>A	ENST00000372189.3	-	21	2936	c.2813C>T	c.(2812-2814)tCg>tTg	p.S938L	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S955L|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S956L	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	938	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGGGCGCCGAGTCCAGGGC	0.672																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2863-2865)tCg>tTg		Rap guanine nucleotide exchange factor (GEF) 1							25.0	30.0	28.0					9																	134459741		1993	4171	6164	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134459741G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2813C>T	9.37:g.134459741G>A	ENSP00000361263:p.Ser938Leu					RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S956L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S938L	p.S955L			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	21	3107	-		Myeloproliferative disorder(178;0.204)	938			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.2864C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102716	0.94245	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.36157	1.27;1.27;1.27	4.93	4.93	0.64822	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.977;0.981	T	0.67612	-0.5626	10	0.87932	D	0	.	17.4783	0.87667	0.0:0.0:1.0:0.0	.	938;956	Q13905;Q13905-3	RPGF1_HUMAN;.	L	938;955;884;938;956;918;916;955	ENSP00000361269:S955L;ENSP00000361263:S938L;ENSP00000361264:S956L	ENSP00000266110:S938L	S	-	2	0	RAPGEF1	133449562	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	9.414000	0.97362	2.447000	0.82792	0.555000	0.69702	TCG		0.672	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		6	9	0	0	0	1	0	6	9				
ZNF366	167465	broad.mit.edu	37	5	71756333	71756333	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71756333G>A	ENST00000318442.5	-	2	1481	c.991C>T	c.(991-993)Cac>Tac	p.H331Y		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	331					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGCTGTGCTGCATCATG	0.667																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(991-993)Cac>Tac		zinc finger protein 366							39.0	38.0	38.0					5																	71756333		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756333G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.991C>T	5.37:g.71756333G>A	ENSP00000313158:p.His331Tyr						p.H331Y	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1481	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	331					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.991C>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700914	0.88924	.	.	ENSG00000178175	ENST00000318442	T	0.67523	-0.27	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	D	0.89469	0.6724	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92957	0.6385	10	0.87932	D	0	-44.0345	19.7279	0.96172	0.0:0.0:1.0:0.0	.	331	Q8N895	ZN366_HUMAN	Y	331	ENSP00000313158:H331Y	ENSP00000313158:H331Y	H	-	1	0	ZNF366	71792089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.659000	0.90383	0.561000	0.74099	CAC		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			11	15	0	0	0	1	0	11	15				
HDHD1	8226	broad.mit.edu	37	X	6968396	6968396	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:6968396C>T	ENST00000381077.5	-	4	704	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	HDHD1_ENST00000412827.2_Missense_Mutation_p.V167M|HDHD1_ENST00000424830.2_Missense_Mutation_p.V233M	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	210					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAATTCAGCACCAGGGTGGCC	0.607																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(628-630)Gtg>Atg		haloacid dehalogenase-like hydrolase domain containing 1							73.0	72.0	73.0					X																	6968396		1925	4106	6031	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6968396C>T	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.628G>A	X.37:g.6968396C>T	ENSP00000370467:p.Val210Met					HDHD1_ENST00000412827.2_Missense_Mutation_p.V167M|HDHD1_ENST00000424830.2_Missense_Mutation_p.V233M	p.V210M	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			4	704	-			210					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.628G>A	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706492	0.48412	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830	T;T;T	0.35789	1.29;1.29;1.29	4.45	3.56	0.40772	HAD-like domain (2);	0.308295	0.31257	N	0.007969	T	0.49712	0.1573	M	0.89163	3.01	0.80722	D	1	P;P;P	0.52842	0.553;0.458;0.956	B;B;P	0.46796	0.349;0.313;0.527	T	0.58532	-0.7620	10	0.62326	D	0.03	-20.9369	11.2894	0.49241	0.0:0.8181:0.1819:0.0	.	167;233;210	Q08623-2;E9PAV8;Q08623	.;.;HDHD1_HUMAN	M	210;226;167;233	ENSP00000370467:V210M;ENSP00000406260:V167M;ENSP00000396452:V233M	ENSP00000370467:V210M	V	-	1	0	HDHD1	6978396	0.856000	0.29760	0.659000	0.29680	0.520000	0.34377	0.531000	0.23052	0.670000	0.31165	0.600000	0.82982	GTG		0.607	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		10	2	0	0	0	1	0	10	2				
PCDHGC4	56098	broad.mit.edu	37	5	140865341	140865341	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140865341G>A	ENST00000306593.1	+	1	601	c.601G>A	c.(601-603)Gat>Aat	p.D201N	PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	201	Cadherin 2. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCTTTGGATCGAGAGAA	0.592																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(601-603)Gat>Aat									35.0	39.0	38.0					5																	140865341		2203	4300	6503	SO:0001583	missense	0							g.chr5:140865341G>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.601G>A	5.37:g.140865341G>A	ENSP00000306918:p.Asp201Asn					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.D201N	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	601	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.601G>A	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357363	0.82243	.	.	ENSG00000242419	ENST00000306593	T	0.63417	-0.04	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85186	0.5639	H	0.94771	3.58	0.46849	D	0.999223	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89389	0.3687	9	0.87932	D	0	.	18.1025	0.89510	0.0:0.0:1.0:0.0	.	201;201	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	N	201	ENSP00000306918:D201N	ENSP00000306918:D201N	D	+	1	0	PCDHGC4	140845525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.657000	0.98554	2.596000	0.87737	0.561000	0.74099	GAT		0.592	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		14	12	0	0	0	1	0	14	12				
ZFAT	57623	broad.mit.edu	37	8	135524784	135524784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135524784C>A	ENST00000377838.3	-	14	3469	c.3295G>T	c.(3295-3297)Gaa>Taa	p.E1099*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E1037*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000520356.1_Intron	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1099					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAACGTCTTCTTCGGCCTCT	0.522																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3259-3261)Gaa>Taa		zinc finger and AT hook domain containing							159.0	167.0	164.0					8																	135524784		1988	4160	6148	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524784C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3295G>T	8.37:g.135524784C>A	ENSP00000367069:p.Glu1099*					ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E1087*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E1037*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E1099*	p.E1087*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3558	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1099					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.3259G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	37	6.583928	0.97684	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	.	.	.	4.8	4.8	0.61643	.	0.443117	0.24544	N	0.037604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0559	10.9118	0.47114	0.0:0.9145:0.0:0.0855	.	.	.	.	X	1087;1087;1099;1087;986;1037	.	ENSP00000326997:E986X	E	-	1	0	ZFAT	135593966	1.000000	0.71417	0.788000	0.31933	0.240000	0.25518	3.071000	0.50041	2.648000	0.89879	0.563000	0.77884	GAA		0.522	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		50	68	1	0	2.76378e-25	1	3.08483e-25	50	68				
MAP3K1	4214	broad.mit.edu	37	5	56176631	56176631	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56176631T>C	ENST00000399503.3	+	12	2179		c.e12+2			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAAAAGCTGGTAATAACTTTT	0.398																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.e12+2		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							72.0	66.0	68.0					5																	56176631		1862	4099	5961	SO:0001630	splice_region_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56176631T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2179+2T>C	5.37:g.56176631T>C								NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	12	2179	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)							Splice_Site	SNP	ENST00000399503.3	37		CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568144	0.86439	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K1	56212388	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.586000	0.74067	2.371000	0.80710	0.533000	0.62120	.		0.398	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	Intron	8	42	0	0	0	1	0	8	42				
ROBO2	6092	broad.mit.edu	37	3	77147399	77147399	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77147399G>A	ENST00000461745.1	+	2	1196	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ROBO2_ENST00000332191.8_Missense_Mutation_p.R99H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R115H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	99	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCACGGGCGCAGGAGTAAA	0.532																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(295-297)cGc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							95.0	98.0	97.0					3																	77147399		2038	4194	6232	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147399G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.296G>A	3.37:g.77147399G>A	ENSP00000417164:p.Arg99His					ROBO2_ENST00000332191.8_Missense_Mutation_p.R99H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R115H	p.R99H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1196	+			99			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.296G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246615	0.80024	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.40756	1.02;1.02;1.02	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.39687	U	0.001285	T	0.64461	0.2600	M	0.61703	1.905	0.25214	N	0.989954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.987	T	0.65249	-0.6214	9	0.66056	D	0.02	.	19.5872	0.95495	0.0:0.0:1.0:0.0	.	115;99;99	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	115;115;115;99;99	ENSP00000417335:R115H;ENSP00000417164:R99H;ENSP00000327536:R99H	ENSP00000327536:R99H	R	+	2	0	ROBO2	77230089	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	9.866000	0.99616	2.628000	0.89032	0.655000	0.94253	CGC		0.532	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		13	19	0	0	0	1	0	13	19				
C9orf78	51759	broad.mit.edu	37	9	132597498	132597498	+	Start_Codon_SNP	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:132597498C>T	ENST00000372447.3	-	1	56	c.3G>A	c.(1-3)atG>atA	p.M1I	USP20_ENST00000315480.4_5'Flank|USP20_ENST00000358355.1_5'Flank|C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	1						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GGACGACCGGCATGGTGACAA	0.697																																						ENST00000372447.3																			0				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13						c.(1-3)atG>atA		chromosome 9 open reading frame 78							33.0	35.0	35.0					9																	132597498		2203	4300	6503	SO:0001582	initiator_codon_variant	51759							g.chr9:132597498C>T	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.3G>A	9.37:g.132597498C>T	ENSP00000361524:p.Met1Ile						p.M1I	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN			1	56	-		Ovarian(14;0.00556)	1					B3KPX8|Q8WVU6|Q9NT39	Translation_Start_Site	SNP	ENST00000372447.3	37	c.3G>A	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879608	0.51801	.	.	ENSG00000136819	ENST00000372447	T	0.41065	1.01	5.13	4.19	0.49359	.	0.341356	0.31370	N	0.007768	T	0.36026	0.0952	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31779	-0.9931	9	0.87932	D	0	.	12.7701	0.57415	0.0:0.8361:0.1639:0.0	.	1	Q9NZ63	CI078_HUMAN	I	1	ENSP00000361524:M1I	ENSP00000361524:M1I	M	-	3	0	C9orf78	131637319	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	2.401000	0.44513	2.370000	0.80446	0.579000	0.79373	ATG		0.697	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520	Missense_Mutation	14	28	0	0	0	1	0	14	28				
IMPA1	3612	broad.mit.edu	37	8	82571663	82571663	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:82571663C>T	ENST00000256108.5	-	9	1222	c.757G>A	c.(757-759)Gca>Aca	p.A253T	IMPA1_ENST00000449740.2_Missense_Mutation_p.A312T|IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000523710.1_5'Flank	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	253					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CTATTATTTGCAGCAATTACT	0.313																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.(757-759)Gca>Aca		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						116.0	113.0	114.0					8																	82571663		2203	4300	6503	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82571663C>T		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.757G>A	8.37:g.82571663C>T	ENSP00000256108:p.Ala253Thr					IMPA1_ENST00000449740.2_Missense_Mutation_p.A312T|IMPA1_ENST00000311489.4_3'UTR	p.A253T	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			9	1222	-			253					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.757G>A	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558641	0.86231	.	.	ENSG00000133731	ENST00000256108;ENST00000449740	T;T	0.52983	0.64;0.64	5.03	4.13	0.48395	.	0.052780	0.85682	D	0.000000	T	0.64305	0.2586	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.68039	0.955;0.897	T	0.65043	-0.6264	10	0.44086	T	0.13	-8.6943	14.372	0.66846	0.1621:0.8379:0.0:0.0	.	312;253	B7Z6Q4;P29218	.;IMPA1_HUMAN	T	253;312	ENSP00000256108:A253T;ENSP00000408526:A312T	ENSP00000256108:A253T	A	-	1	0	IMPA1	82734218	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	5.773000	0.68898	1.030000	0.39839	0.643000	0.83706	GCA		0.313	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			19	32	0	0	0	1	0	19	32				
BPIFB1	92747	broad.mit.edu	37	20	31889214	31889214	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31889214C>T	ENST00000253354.1	+	9	1084	c.923C>T	c.(922-924)tCt>tTt	p.S308F	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	308					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGTTGGACTCTGTGGTAAAC	0.542																																						ENST00000253354.1																			0											c.(922-924)tCt>tTt		BPI fold containing family B, member 1							82.0	72.0	76.0					20																	31889214		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31889214C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.923C>T	20.37:g.31889214C>T	ENSP00000253354:p.Ser308Phe					BPIFB1_ENST00000464032.1_3'UTR	p.S308F	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			9	1084	+			308					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.923C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	1.362	-0.588524	0.03799	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.06687	3.27	4.81	-5.49	0.02584	.	0.955334	0.08672	N	0.910714	T	0.05090	0.0136	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44314	-0.9336	10	0.24483	T	0.36	-0.764	7.1904	0.25822	0.2013:0.4898:0.0:0.3089	.	308	Q8TDL5	BPIB1_HUMAN	F	308;139	ENSP00000253354:S308F	ENSP00000253354:S308F	S	+	2	0	BPIFB1	31352875	0.000000	0.05858	0.038000	0.18304	0.140000	0.21249	-0.672000	0.05244	-0.664000	0.05324	-0.538000	0.04264	TCT		0.542	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		17	28	0	0	0	1	0	17	28				
MICAL3	57553	broad.mit.edu	37	22	18378157	18378157	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:18378157G>T	ENST00000441493.2	-	10	1694	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	MICAL3_ENST00000207726.7_Missense_Mutation_p.L448M|MICAL3_ENST00000429452.1_Missense_Mutation_p.L448M|MICAL3_ENST00000444520.1_Missense_Mutation_p.L448M|MICAL3_ENST00000383094.3_Missense_Mutation_p.L448M|MICAL3_ENST00000400561.2_Missense_Mutation_p.L448M|MICAL3_ENST00000414725.2_Missense_Mutation_p.L448M|MICAL3_ENST00000585038.1_Missense_Mutation_p.L448M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	448	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTCTGAGGCAGCAACCTGTAA	0.478																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(1342-1344)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 3							154.0	126.0	135.0					22																	18378157		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18378157G>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1342C>A	22.37:g.18378157G>T	ENSP00000416015:p.Leu448Met					MICAL3_ENST00000400561.2_Missense_Mutation_p.L448M|MICAL3_ENST00000383094.3_Missense_Mutation_p.L448M|MICAL3_ENST00000429452.1_Missense_Mutation_p.L448M|MICAL3_ENST00000444520.1_Missense_Mutation_p.L448M|MICAL3_ENST00000414725.2_Missense_Mutation_p.L448M|MICAL3_ENST00000585038.1_Missense_Mutation_p.L448M|MICAL3_ENST00000207726.7_Missense_Mutation_p.L448M	p.L448M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	10	1694	-		all_epithelial(15;0.198)	448					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.1342C>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832483	0.71258	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.86	4.85	0.62838	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.77712	2.385	0.49798	D	0.999828	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.87578	0.996;0.983;0.998;0.996	T	0.31503	-0.9941	10	0.62326	D	0.03	.	14.5316	0.67929	0.0696:0.0:0.9304:0.0	.	448;448;448;448	B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;MICA3_HUMAN	M	448	ENSP00000416015:L448M;ENSP00000414846:L448M;ENSP00000383406:L448M;ENSP00000410315:L448M;ENSP00000391827:L448M;ENSP00000372574:L448M;ENSP00000207726:L448M	ENSP00000207726:L448M	L	-	1	2	XXbac-B461K10.4;MICAL3	16758157	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.790000	0.69038	1.486000	0.48398	0.655000	0.94253	CTG		0.478	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	7	1	0	5.18039e-06	1	5.37127e-06	7	7				
CNGA4	1262	broad.mit.edu	37	11	6261461	6261461	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6261461G>A	ENST00000379936.2	+	4	552	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	146					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTTTCTCCGCGCGCCCCGC	0.592																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(436-438)cGc>cAc		cyclic nucleotide gated channel alpha 4							84.0	91.0	88.0					11																	6261461		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261461G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.437G>A	11.37:g.6261461G>A	ENSP00000369268:p.Arg146His					CNGA4_ENST00000533426.1_Intron	p.R146H	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	552	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	146						Missense_Mutation	SNP	ENST00000379936.2	37	c.437G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482368	0.84747	.	.	ENSG00000132259	ENST00000379936	D	0.97303	-4.33	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.69078	0.997;0.991	P;P	0.57371	0.819;0.724	D	0.98438	1.0585	10	0.52906	T	0.07	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	146;106	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	146	ENSP00000369268:R146H	ENSP00000369268:R146H	R	+	2	0	CNGA4	6218037	0.996000	0.38824	0.884000	0.34674	0.576000	0.36127	3.255000	0.51484	2.607000	0.88179	0.655000	0.94253	CGC		0.592	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		15	79	0	0	0	1	0	15	79				
MYH2	4620	broad.mit.edu	37	17	10426684	10426684	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10426684C>T	ENST00000245503.5	-	38	5902	c.5518G>A	c.(5518-5520)Gct>Act	p.A1840T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1840T|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1840					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACAGCCTCAGCATTACGCTTT	0.478																																						ENST00000245503.5																			0				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						c.(5518-5520)Gct>Act		myosin, heavy chain 2, skeletal muscle, adult							188.0	166.0	173.0					17																	10426684		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426684C>T		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.5518G>A	17.37:g.10426684C>T	ENSP00000245503:p.Ala1840Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1840T	p.A1840T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			38	5902	-			1840					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5518G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850678	0.32699	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78707	-1.2;-1.2	5.5	5.5	0.81552	Myosin tail (1);	0.428769	0.16597	U	0.207520	T	0.74397	0.3711	L	0.57130	1.785	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.63888	-0.6535	10	0.46703	T	0.11	.	12.8447	0.57823	0.0:0.9263:0.0:0.0737	.	1840	Q9UKX2	MYH2_HUMAN	T	1840	ENSP00000245503:A1840T;ENSP00000380367:A1840T	ENSP00000245503:A1840T	A	-	1	0	MYH2	10367409	0.002000	0.14202	0.008000	0.14137	0.979000	0.70002	1.836000	0.39191	2.861000	0.98227	0.655000	0.94253	GCT		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		31	48	0	0	0	1	0	31	48				
LOXL2	4017	broad.mit.edu	37	8	23177435	23177435	+	Missense_Mutation	SNP	C	C	T	rs371856463		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23177435C>T	ENST00000389131.3	-	8	1802	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	478	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTGGCGGCAGACCAC	0.642																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1432-1434)cGc>cAc		lysyl oxidase-like 2		C	HIS/ARG	0,4406		0,0,2203	104.0	88.0	94.0		1433	5.1	1.0	8		94	2,8598	2.2+/-6.3	0,2,4298	no	missense	LOXL2	NM_002318.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	478/775	23177435	2,13004	2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23177435C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1433G>A	8.37:g.23177435C>T	ENSP00000373783:p.Arg478His						p.R478H	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	8	1802	-		Prostate(55;0.0453)|Breast(100;0.143)	478			SRCR 4.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1433G>A	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.569787|5.569787	0.96540|0.96540	0.0|0.0	2.33E-4|2.33E-4	ENSG00000134013|ENSG00000134013	ENST00000520349|ENST00000389131	.|T	.|0.42900	.|0.96	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.78623|0.78623	-0.2132|-0.2132	5|10	.|0.87932	.|D	.|0	.|.	17.5083|17.5083	0.87753|0.87753	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|478;478	.|B2R5Q0;Q9Y4K0	.|.;LOXL2_HUMAN	T|H	195|478	.|ENSP00000373783:R478H	.|ENSP00000373783:R478H	A|R	-|-	1|2	0|0	LOXL2|LOXL2	23233380|23233380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.768000|7.768000	0.85345|0.85345	2.518000|2.518000	0.84900|0.84900	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.642	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			12	17	0	0	0	1	0	12	17				
PEX11B	8799	broad.mit.edu	37	1	145522818	145522818	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145522818C>T	ENST00000369306.3	+	4	828	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.L213F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	227	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAACTAGGCCTCTGGCGCTG	0.557																																						ENST00000369306.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(679-681)Ctc>Ttc		peroxisomal biogenesis factor 11 beta							152.0	131.0	138.0					1																	145522818		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522818C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.679C>T	1.37:g.145522818C>T	ENSP00000358312:p.Leu227Phe					PEX11B_ENST00000537888.1_Missense_Mutation_p.L213F	p.L227F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN			4	828	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		227			Interaction with PEX19 and peroxisome targeting.		B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.679C>T	CCDS917.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624361	0.87560	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T;T	0.45276	0.9;0.9;0.9	5.44	5.44	0.79542	.	0.064066	0.64402	D	0.000007	T	0.47838	0.1467	L	0.46157	1.445	0.51767	D	0.999933	D;D	0.69078	0.997;0.994	D;D	0.66979	0.948;0.948	T	0.18272	-1.0342	10	0.33940	T	0.23	-10.5682	16.8052	0.85625	0.0:1.0:0.0:0.0	.	213;227	B4DXH9;O96011	.;PX11B_HUMAN	F	227;213;49	ENSP00000358312:L227F;ENSP00000437510:L213F;ENSP00000414018:L49F	ENSP00000358312:L227F	L	+	1	0	PEX11B	144234175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.894000	0.48640	2.832000	0.97577	0.655000	0.94253	CTC		0.557	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		14	78	0	0	0	1	0	14	78				
LRRC37A4P	55073	broad.mit.edu	37	17	43585431	43585431	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43585431C>A	ENST00000579913.1	-	0	1918				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		ATTGTTTATGCTATGTGTTTT	0.582																																						ENST00000253803.2																			0																																																			0							g.chr17:43585431C>A	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43585431C>A						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.582	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	17	1	0	0.000157383	1	0.000161063	7	17				
ENTHD2	146705	broad.mit.edu	37	17	79202784	79202784	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79202784C>T	ENST00000300714.3	-	12	1579	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.A424T|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	508						cytoplasmic vesicle (GO:0031410)											TCTTTGGCTGCTGTCCTCTGG	0.667																																						ENST00000374769.2																			0											c.(1270-1272)Gca>Aca		ENTH domain containing 2							33.0	38.0	36.0					17																	79202784		2203	4299	6502	SO:0001583	missense	146705							g.chr17:79202784C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1522G>A	17.37:g.79202784C>T	ENSP00000300714:p.Ala508Thr					AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.A508T	p.A424T							13	1747	-								Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.1270G>A	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271022	0.23221	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.78364	-1.17;-1.17	3.31	1.05	0.20165	.	1.167580	0.06429	N	0.723704	T	0.62708	0.2450	L	0.41236	1.265	0.09310	N	1	B;B	0.22541	0.022;0.071	B;B	0.20184	0.005;0.028	T	0.47947	-0.9077	10	0.02654	T	1	-1.1842	4.4237	0.11493	0.0:0.6534:0.0:0.3466	.	508;424	Q96N21;Q96N21-2	CQ056_HUMAN;.	T	508;424	ENSP00000300714:A508T;ENSP00000363901:A424T	ENSP00000300714:A508T	A	-	1	0	C17orf56	76817379	0.000000	0.05858	0.001000	0.08648	0.192000	0.23643	-0.090000	0.11163	0.598000	0.29829	0.543000	0.68304	GCA		0.667	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		14	12	0	0	0	1	0	14	12				
DMXL1	1657	broad.mit.edu	37	5	118533507	118533507	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:118533507A>G	ENST00000311085.8	+	32	7681	c.7601A>G	c.(7600-7602)gAa>gGa	p.E2534G	DMXL1_ENST00000539542.1_Missense_Mutation_p.E2534G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2534										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAATGTTGGGAACAAGTTCTT	0.413																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7600-7602)gAa>gGa		Dmx-like 1							137.0	138.0	137.0					5																	118533507		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533507A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7601A>G	5.37:g.118533507A>G	ENSP00000309690:p.Glu2534Gly					DMXL1_ENST00000539542.1_Missense_Mutation_p.E2534G	p.E2534G	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7681	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2534						Missense_Mutation	SNP	ENST00000311085.8	37	c.7601A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697262	0.88830	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10960	2.83;2.82	5.41	5.41	0.78517	.	0.044597	0.85682	D	0.000000	T	0.30008	0.0751	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.972	D;P	0.64042	0.921;0.786	T	0.01566	-1.1323	10	0.66056	D	0.02	-14.7554	15.7371	0.77853	1.0:0.0:0.0:0.0	.	2534;2534	F5H269;Q9Y485	.;DMXL1_HUMAN	G	2534	ENSP00000309690:E2534G;ENSP00000439479:E2534G	ENSP00000309690:E2534G	E	+	2	0	DMXL1	118561406	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.485000	0.90448	2.177000	0.69029	0.460000	0.39030	GAA		0.413	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		23	95	0	0	0	1	0	23	95				
HSPA4	3308	broad.mit.edu	37	5	132408971	132408971	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132408971C>T	ENST00000304858.2	+	5	768	c.479C>T	c.(478-480)aCa>aTa	p.T160I		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	160					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGATGCAACACAGATTGCT	0.338																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(478-480)aCa>aTa		heat shock 70kDa protein 4							140.0	127.0	132.0					5																	132408971		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132408971C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.479C>T	5.37:g.132408971C>T	ENSP00000302961:p.Thr160Ile						p.T160I	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	768	+			160					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.479C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248969	0.80024	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.00976	5.48	5.78	5.78	0.91487	.	0.045915	0.85682	D	0.000000	T	0.03011	0.0089	L	0.42245	1.32	0.80722	D	1	P	0.49307	0.922	P	0.54100	0.742	T	0.56294	-0.8003	10	0.87932	D	0	-17.4695	20.3754	0.98918	0.0:1.0:0.0:0.0	.	160	P34932	HSP74_HUMAN	I	160	ENSP00000302961:T160I	ENSP00000302961:T160I	T	+	2	0	HSPA4	132436870	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.894000	0.99253	0.591000	0.81541	ACA		0.338	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		16	19	0	0	0	1	0	16	19				
ITPR3	3710	broad.mit.edu	37	6	33639817	33639817	+	Missense_Mutation	SNP	C	C	T	rs566710188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33639817C>T	ENST00000374316.5	+	23	3800	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R914W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	914					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAAGAATGTGCGGCGGTCCAT	0.632																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2740-2742)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 3							72.0	67.0	68.0					6																	33639817		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33639817C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2740C>T	6.37:g.33639817C>T	ENSP00000363435:p.Arg914Trp					ITPR3_ENST00000605930.1_Missense_Mutation_p.R914W	p.R914W			Q14573	ITPR3_HUMAN			23	3800	+			914					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2740C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381969	0.61845	.	.	ENSG00000096433	ENST00000374316	D	0.91945	-2.94	5.46	3.62	0.41486	.	0.055265	0.64402	D	0.000001	D	0.90463	0.7013	L	0.57536	1.79	0.40534	D	0.980956	D	0.71674	0.998	P	0.53146	0.719	D	0.89693	0.3899	10	0.52906	T	0.07	-40.2109	14.1014	0.65059	0.5141:0.4859:0.0:0.0	.	914	Q14573	ITPR3_HUMAN	W	914	ENSP00000363435:R914W	ENSP00000363435:R914W	R	+	1	2	ITPR3	33747795	0.996000	0.38824	1.000000	0.80357	0.815000	0.46073	1.929000	0.40114	0.626000	0.30322	-0.182000	0.12963	CGG		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		11	27	0	0	0	1	0	11	27				
MED12L	116931	broad.mit.edu	37	3	151107924	151107924	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151107924G>A	ENST00000474524.1	+	36	5541		c.e36+1		MED12L_ENST00000273432.4_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACTCCAGGTATGTGATGA	0.478																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.e36+1		mediator complex subunit 12-like							113.0	125.0	121.0					3																	151107924		2203	4300	6503	SO:0001630	splice_region_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151107924G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5503+1G>A	3.37:g.151107924G>A						MED12L_ENST00000273432.4_Splice_Site		NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		36	5541	+								Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	SNP	ENST00000474524.1	37		CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731168	0.69189	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1849	0.86863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12L	152590614	1.000000	0.71417	0.993000	0.49108	0.698000	0.40448	6.995000	0.76257	2.577000	0.86979	0.655000	0.94253	.		0.478	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	Intron	26	58	0	0	0	1	0	26	58				
NADSYN1	55191	broad.mit.edu	37	11	71193052	71193052	+	Silent	SNP	C	C	T	rs529440311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71193052C>T	ENST00000319023.2	+	13	1319	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C	NADSYN1_ENST00000530055.1_Silent_p.C6C|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Silent_p.C117C	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	377	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCCAGGTCTGCGAGGCCGTGA	0.622																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1129-1131)tgC>tgT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65.0	52.0	57.0					11																	71193052		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71193052C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1131C>T	11.37:g.71193052C>T						NADSYN1_ENST00000539574.1_Silent_p.C117C|NADSYN1_ENST00000530055.1_Silent_p.C6C|NADSYN1_ENST00000526039.2_3'UTR	p.C377C	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			13	1319	+			377			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.1131C>T	CCDS8201.1																																																																																				0.622	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	8	0	0	0	1	0	5	8				
NTM	50863	broad.mit.edu	37	11	132177679	132177679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132177679C>T	ENST00000374786.1	+	4	1102	c.623C>T	c.(622-624)gCc>gTc	p.A208V	NTM_ENST00000425719.2_Missense_Mutation_p.A208V|NTM_ENST00000374791.3_Missense_Mutation_p.A208V|NTM_ENST00000427481.2_Missense_Mutation_p.A199V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.A208V|NTM_ENST00000539799.1_Missense_Mutation_p.A208V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACGTGGCCGCGCCCGTG	0.582																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(622-624)gCc>gTc		neurotrimin							90.0	78.0	82.0					11																	132177679		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177679C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.623C>T	11.37:g.132177679C>T	ENSP00000363918:p.Ala208Val					NTM_ENST00000374784.1_Missense_Mutation_p.A208V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.A208V|NTM_ENST00000374791.3_Missense_Mutation_p.A208V|NTM_ENST00000427481.2_Missense_Mutation_p.A199V|NTM_ENST00000425719.2_Missense_Mutation_p.A208V	p.A208V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1102	+			208			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.623C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142676	0.94560	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.104593	0.64402	D	0.000002	T	0.60248	0.2254	M	0.84082	2.675	0.51233	D	0.999911	P;D;D;D;P;D	0.59357	0.849;0.979;0.985;0.962;0.953;0.974	P;P;P;P;P;P	0.62740	0.635;0.906;0.885;0.827;0.839;0.875	T	0.63134	-0.6705	10	0.87932	D	0	-12.7999	20.3754	0.98918	0.0:1.0:0.0:0.0	.	208;199;208;208;208;208	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	V	208;208;199;208;208;208	ENSP00000363923:A208V;ENSP00000437668:A208V;ENSP00000416320:A199V;ENSP00000363918:A208V;ENSP00000396722:A208V;ENSP00000363916:A208V	ENSP00000363916:A208V	A	+	2	0	NTM	131682889	1.000000	0.71417	0.971000	0.41717	0.544000	0.35116	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	GCC		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		13	19	0	0	0	1	0	13	19				
MAP2K4	6416	broad.mit.edu	37	17	12013734	12013734	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12013734A>T	ENST00000353533.5	+	6	739	c.676A>T	c.(676-678)Att>Ttt	p.I226F	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.I237F	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTGAAAATTATTCACAGAGG	0.318			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(709-711)Att>Ttt		mitogen-activated protein kinase kinase 4							90.0	91.0	91.0					17																	12013734		2203	4299	6502	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12013734A>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.676A>T	17.37:g.12013734A>T	ENSP00000262445:p.Ile226Phe					MAP2K4_ENST00000353533.5_Missense_Mutation_p.I226F	p.I237F			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	762	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	226			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.709A>T	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740160	0.49045	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26810	1.71;1.71	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.988;0.995;0.997	T	0.50294	-0.8845	10	0.87932	D	0	.	14.5856	0.68322	1.0:0.0:0.0:0.0	.	98;237;226	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	F	226;237;203;98	ENSP00000262445:I226F;ENSP00000410402:I237F	ENSP00000262445:I226F	I	+	1	0	MAP2K4	11954459	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.627000	0.90974	2.137000	0.66172	0.460000	0.39030	ATT		0.318	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			15	74	0	0	0	1	0	15	74				
PAGE2	203569	broad.mit.edu	37	X	55117849	55117849	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:55117849G>A	ENST00000374968.4	+	4	382	c.278G>A	c.(277-279)gGt>gAt	p.G93D	PAGE2_ENST00000374965.1_Missense_Mutation_p.G76D	NM_207339.2	NP_997222.1	Q7Z2X7	PAGE2_HUMAN	P antigen family, member 2 (prostate associated)	93										endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						GTCAGGGAGGGTATTATGCCC	0.398																																						ENST00000374968.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						c.(277-279)gGt>gAt		P antigen family, member 2 (prostate associated)							173.0	191.0	185.0					X																	55117849		2173	4296	6469	SO:0001583	missense	203569							g.chrX:55117849G>A	BC054022	CCDS14367.1	Xp11.22	2009-06-17			ENSG00000234068	ENSG00000234068			31804	protein-coding gene	gene with protein product		300738	"""G antigen, family C, 2"""	GAGEC2		9724777	Standard	NM_207339		Approved	MGC62094, PAGE-2, CT16.4		Q7Z2X7	OTTHUMG00000021648	ENST00000374968.4:c.278G>A	X.37:g.55117849G>A	ENSP00000364107:p.Gly93Asp					PAGE2_ENST00000374965.1_Missense_Mutation_p.G76D	p.G93D	NM_207339.2	NP_997222.1					4	382	+								Q5JRK7|Q5JRK8	Missense_Mutation	SNP	ENST00000374968.4	37	c.278G>A	CCDS14367.1	.	.	.	.	.	.	.	.	.	.	g	4.426	0.078758	0.08533	.	.	ENSG00000234068	ENST00000374968;ENST00000374965	T;T	0.09538	2.97;2.97	1.13	-2.26	0.06867	.	.	.	.	.	T	0.13756	0.0333	L	0.57536	1.79	0.09310	N	1	P	0.49090	0.919	P	0.54346	0.749	T	0.07908	-1.0748	9	0.23891	T	0.37	.	0.0467	0.00010	0.2493:0.217:0.2285:0.3051	.	93	Q7Z2X7	GGEE2_HUMAN	D	93;76	ENSP00000364107:G93D;ENSP00000364104:G76D	ENSP00000364104:G76D	G	+	2	0	PAGE2	55134574	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.040000	0.12104	-2.102000	0.00845	0.287000	0.19450	GGT		0.398	PAGE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056857.1	NM_207339		90	18	0	0	0	1	0	90	18				
KDM4B	23030	broad.mit.edu	37	19	5135490	5135490	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5135490G>A	ENST00000159111.4	+	15	2444	c.2226G>A	c.(2224-2226)ccG>ccA	p.P742P	KDM4B_ENST00000536461.1_Silent_p.P776P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	742					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACACGGAGCCGCTGCCTGCCA	0.642																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2224-2226)ccG>ccA		lysine (K)-specific demethylase 4B							52.0	43.0	46.0					19																	5135490		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5135490G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2226G>A	19.37:g.5135490G>A						KDM4B_ENST00000536461.1_Silent_p.P776P	p.P742P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			15	2444	+			742					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.2226G>A	CCDS12138.1																																																																																				0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		6	7	0	0	0	1	0	6	7				
SLC25A44	9673	broad.mit.edu	37	1	156180190	156180190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156180190C>T	ENST00000359511.4	+	4	1085	c.913C>T	c.(913-915)Cga>Tga	p.R305*	PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000368277.3_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1_ENST00000368273.4_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1_ENST00000567140.1_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Nonsense_Mutation_p.R282*|PMF1-BGLAP_ENST00000490491.1_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	305					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R305*(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					ACTCAGCCTCCGACCTGAGCT	0.572																																						ENST00000359511.4																			1	Substitution - Nonsense(1)	p.R305*(1)	upper_aerodigestive_tract(1)	breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(913-915)Cga>Tga		solute carrier family 25, member 44							77.0	69.0	72.0					1																	156180190		2203	4300	6503	SO:0001587	stop_gained	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156180190C>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.913C>T	1.37:g.156180190C>T	ENSP00000352497:p.Arg305*					SLC25A44_ENST00000423538.2_Nonsense_Mutation_p.R282*|SLC25A44_ENST00000469537.1_3'UTR	p.R305*	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			4	1085	+	Hepatocellular(266;0.158)		305					O75034	Nonsense_Mutation	SNP	ENST00000359511.4	37	c.913C>T	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200533	0.94997	.	.	ENSG00000160785	ENST00000359511;ENST00000423538;ENST00000412949	.	.	.	4.86	3.94	0.45596	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-4.2721	10.2026	0.43094	0.3619:0.6381:0.0:0.0	.	.	.	.	X	305;282;153	.	ENSP00000352497:R305X	R	+	1	2	SLC25A44	154446814	0.667000	0.27484	0.880000	0.34516	0.997000	0.91878	1.236000	0.32683	1.242000	0.43836	0.655000	0.94253	CGA		0.572	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		9	22	0	0	0	1	0	9	22				
TSTA3	7264	broad.mit.edu	37	8	144695693	144695693	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144695693C>T	ENST00000425753.2	-	9	914		c.e9+1		TSTA3_ENST00000529064.1_Splice_Site	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B						'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCAGAGGATACGGTGACTTCC	0.687																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.e9+1		tissue specific transplantation antigen P35B	NADH(DB00157)																																			SO:0001630	splice_region_variant	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144695693C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.810+1G>A	8.37:g.144695693C>T						TSTA3_ENST00000529064.1_Splice_Site		NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		9	914	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Splice_Site	SNP	ENST00000425753.2	37		CCDS6408.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022648	0.54683	.	.	ENSG00000104522	ENST00000524719;ENST00000529064;ENST00000425753	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.294	0.66300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSTA3	144766836	1.000000	0.71417	0.466000	0.27168	0.606000	0.37113	6.932000	0.75869	2.145000	0.66743	0.650000	0.86243	.		0.687	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313	Intron	4	17	0	0	0	1	0	4	17				
GRIN1	2902	broad.mit.edu	37	9	140043502	140043502	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140043502G>A	ENST00000371561.3	+	4	1709	c.612G>A	c.(610-612)gtG>gtA	p.V204V	GRIN1_ENST00000315048.3_Silent_p.V204V|GRIN1_ENST00000371550.4_Silent_p.V204V|GRIN1_ENST00000350902.5_Silent_p.V204V|GRIN1_ENST00000371546.4_Silent_p.V225V|GRIN1_ENST00000371559.4_Silent_p.V204V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Silent_p.V225V|GRIN1_ENST00000371553.3_Silent_p.V225V|GRIN1_ENST00000371555.4_Silent_p.V225V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	204					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAAGAACGTGACGGCCCTGC	0.627																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(610-612)gtG>gtA		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						118.0	95.0	102.0					9																	140043502		2203	4300	6503	SO:0001819	synonymous_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140043502G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.612G>A	9.37:g.140043502G>A						GRIN1_ENST00000315048.3_Silent_p.V204V|GRIN1_ENST00000371546.4_Silent_p.V225V|GRIN1_ENST00000371550.4_Silent_p.V204V|GRIN1_ENST00000350902.5_Silent_p.V204V|GRIN1_ENST00000371559.4_Silent_p.V204V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.V225V|GRIN1_ENST00000371555.4_Silent_p.V225V|GRIN1_ENST00000371560.3_Silent_p.V225V	p.V204V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	4	1709	+	all_cancers(76;0.0926)		204					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	ENST00000371561.3	37	c.612G>A	CCDS7031.1																																																																																				0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		3	9	0	0	0	1	0	3	9				
TLR6	10333	broad.mit.edu	37	4	38830345	38830345	+	Silent	SNP	G	G	T	rs139523436		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38830345G>T	ENST00000381950.1	-	1	815	c.750C>A	c.(748-750)acC>acA	p.T250T	TLR6_ENST00000436693.2_Silent_p.T250T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	250					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCAGTAAGGTTGAACCTC	0.343																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(748-750)acC>acA		toll-like receptor 6		G		0,4406		0,0,2203	57.0	62.0	60.0		750	0.1	0.0	4	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TLR6	NM_006068.4		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		250/797	38830345	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830345G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.750C>A	4.37:g.38830345G>T						TLR6_ENST00000381950.1_Silent_p.T250T	p.T250T	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	869	-			250					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.750C>A	CCDS3446.1																																																																																				0.343	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			23	29	1	0	1.28384e-07	1	1.34682e-07	23	29				
PCDHB10	56126	broad.mit.edu	37	5	140573503	140573503	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140573503G>A	ENST00000239446.4	+	1	1562	c.1378G>A	c.(1378-1380)Gtc>Atc	p.V460I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V460F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																						ENST00000239446.4																			1	Substitution - Missense(1)	p.V460F(1)	kidney(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1378-1380)Gtc>Atc									44.0	50.0	48.0					5																	140573503		2203	4290	6493	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573503G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1378G>A	5.37:g.140573503G>A	ENSP00000239446:p.Val460Ile						p.V460I	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1562	+			460			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1378G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.931	0.355823	0.11239	.	.	ENSG00000120324	ENST00000239446	T	0.53857	0.6	3.22	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30572	0.0769	N	0.17631	0.505	0.09310	N	1	B	0.30973	0.302	B	0.34418	0.182	T	0.23332	-1.0191	9	0.22706	T	0.39	.	2.7858	0.05373	0.1771:0.3797:0.3148:0.1284	.	460	Q9UN67	PCDBA_HUMAN	I	460	ENSP00000239446:V460I	ENSP00000239446:V460I	V	+	1	0	PCDHB10	140553687	0.000000	0.05858	0.006000	0.13384	0.270000	0.26580	-0.534000	0.06150	-0.080000	0.12685	-1.205000	0.01647	GTC		0.637	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		18	47	0	0	0	1	0	18	47				
PHGDH	26227	broad.mit.edu	37	1	120269491	120269491	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:120269491C>T	ENST00000369409.4	+	4	510	c.374C>T	c.(373-375)aCg>aTg	p.T125M	PHGDH_ENST00000369407.3_Missense_Mutation_p.T91M	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	125					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCCCAGGCGACGGCTTCGATG	0.607																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(271-273)aCg>aTg		phosphoglycerate dehydrogenase	NADH(DB00157)						70.0	66.0	67.0					1																	120269491		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120269491C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.374C>T	1.37:g.120269491C>T	ENSP00000358417:p.Thr125Met					PHGDH_ENST00000369409.4_Missense_Mutation_p.T125M	p.T91M			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	3	1779	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	125					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.272C>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169509	0.57584	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	T;T	0.80566	-1.39;-1.39	5.68	5.68	0.88126	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.348813	0.32987	N	0.005407	T	0.71609	0.3360	N	0.17723	0.515	0.09310	N	1	D;D;P	0.57571	0.98;0.98;0.951	P;P;P	0.53185	0.72;0.72;0.72	T	0.70117	-0.4960	10	0.52906	T	0.07	-15.2451	18.3597	0.90371	0.0:1.0:0.0:0.0	.	91;91;125	B3KSC3;Q5SZU1;O43175	.;.;SERA_HUMAN	M	125;91	ENSP00000358417:T125M;ENSP00000358415:T91M	ENSP00000358415:T91M	T	+	2	0	PHGDH	120071014	0.140000	0.22579	0.037000	0.18230	0.595000	0.36748	1.908000	0.39907	2.689000	0.91719	0.655000	0.94253	ACG		0.607	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		5	16	0	0	0	1	0	5	16				
RPS6KA2	6196	broad.mit.edu	37	6	166831754	166831754	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166831754G>T	ENST00000265678.4	-	19	2120	c.1897C>A	c.(1897-1899)Ctt>Att	p.L633I	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.L658I|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L544I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L544I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L641I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	633	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCCCCAGAAAGGGCATACTTC	0.453																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1972-1974)Ctt>Att		ribosomal protein S6 kinase, 90kDa, polypeptide 2							89.0	85.0	86.0					6																	166831754		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166831754G>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1897C>A	6.37:g.166831754G>T	ENSP00000265678:p.Leu633Ile					RPS6KA2_ENST00000481261.2_Missense_Mutation_p.L544I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.L544I|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L641I|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.L633I	p.L658I			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	21	2312	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	633			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1972C>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	g	15.62	2.886567	0.51908	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173307	0.36703	N	0.002443	T	0.46852	0.1414	L	0.33093	0.98	0.80722	D	1	B;B;P	0.42871	0.042;0.034;0.792	B;B;D	0.70227	0.309;0.206;0.968	T	0.49504	-0.8933	10	0.56958	D	0.05	.	16.2548	0.82510	0.0:0.0:1.0:0.0	.	658;641;633	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	I	633;658;641;544;544	ENSP00000265678:L633I;ENSP00000422435:L658I;ENSP00000427015:L641I;ENSP00000422484:L544I;ENSP00000386050:L544I	ENSP00000265678:L633I	L	-	1	0	RPS6KA2	166751744	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	5.902000	0.69869	2.314000	0.78098	0.581000	0.79447	CTT		0.453	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		36	50	1	0	1.36161e-19	1	1.50697e-19	36	50				
PRR5L	79899	broad.mit.edu	37	11	36472798	36472798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36472798C>T	ENST00000378867.3	+	9	980	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q136*|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q209*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	209					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGTTATTTGCAACTGGAGGA	0.537																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(625-627)Caa>Taa		proline rich 5 like							181.0	158.0	166.0					11																	36472798		2202	4298	6500	SO:0001587	stop_gained	79899							g.chr11:36472798C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.625C>T	11.37:g.36472798C>T	ENSP00000368144:p.Gln209*					PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q136*|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q209*	p.Q209*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			9	980	+			209					A4QN22|E9PKY1|Q96H46|Q9H7V4	Nonsense_Mutation	SNP	ENST00000378867.3	37	c.625C>T	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	38	6.942154	0.97952	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	.	.	.	5.16	5.16	0.70880	.	0.140339	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-36.826	13.2375	0.59976	0.1591:0.8409:0.0:0.0	.	.	.	.	X	209;136;209	.	ENSP00000310103:Q136X	Q	+	1	0	PRR5L	36429374	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.155000	0.42301	2.417000	0.82017	0.313000	0.20887	CAA		0.537	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		32	39	0	0	0	1	0	32	39				
CASP10	843	broad.mit.edu	37	2	202074091	202074091	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202074091G>T	ENST00000272879.5	+	9	1405	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000286186.6_Missense_Mutation_p.Q407H|CASP10_ENST00000313728.7_Missense_Mutation_p.Q340H|CASP10_ENST00000346817.5_Missense_Mutation_p.Q364H|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.Q364H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	407					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AAGAGATACAGCCTTCCGTAT	0.532																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1219-1221)caG>caT		caspase 10, apoptosis-related cysteine peptidase							83.0	75.0	78.0					2																	202074091		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074091G>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1221G>T	2.37:g.202074091G>T	ENSP00000272879:p.Gln407His					CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.Q340H|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.Q407H|CASP10_ENST00000346817.5_Missense_Mutation_p.Q364H|CASP10_ENST00000448480.1_Missense_Mutation_p.Q364H	p.Q407H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			9	1656	+			407					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1221G>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664267	0.29604	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.80738	-1.41;4.02;-1.41;-1.41;4.02	4.66	-3.7	0.04437	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.564281	0.19204	N	0.120114	T	0.80476	0.4630	M	0.66439	2.03	0.80722	D	1	P;P;D;P;P	0.57571	0.707;0.886;0.98;0.905;0.735	P;P;P;P;P	0.57620	0.464;0.59;0.824;0.548;0.73	T	0.75991	-0.3122	10	0.45353	T	0.12	.	5.2187	0.15356	0.2744:0.1153:0.4971:0.1132	.	340;364;407;364;407	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	H	407;407;364;340;364	ENSP00000286186:Q407H;ENSP00000272879:Q407H;ENSP00000237865:Q364H;ENSP00000314599:Q340H;ENSP00000396835:Q364H	ENSP00000272879:Q407H	Q	+	3	2	CASP10	201782336	0.008000	0.16893	0.004000	0.12327	0.005000	0.04900	-0.188000	0.09642	-0.786000	0.04516	-0.806000	0.03193	CAG		0.532	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		25	39	1	0	1.85244e-09	1	1.96811e-09	25	39				
ZCCHC14	23174	broad.mit.edu	37	16	87446014	87446014	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87446014A>G	ENST00000268616.4	-	12	2119	c.1902T>C	c.(1900-1902)cgT>cgC	p.R634R		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	634							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R634R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGATGGGCGGACGGGCGGCGT	0.607																																						ENST00000268616.4																			1	Substitution - coding silent(1)	p.R634R(1)	lung(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1900-1902)cgT>cgC		zinc finger, CCHC domain containing 14							79.0	89.0	86.0					16																	87446014		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446014A>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1902T>C	16.37:g.87446014A>G							p.R634R	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2119	-			634					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1902T>C	CCDS10961.1																																																																																				0.607	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		28	55	0	0	0	1	0	28	55				
HRH1	3269	broad.mit.edu	37	3	11301661	11301661	+	Missense_Mutation	SNP	C	C	T	rs201210547	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:11301661C>T	ENST00000397056.1	+	3	1129	c.938C>T	c.(937-939)gCg>gTg	p.A313V	HRH1_ENST00000431010.2_Missense_Mutation_p.A313V|HRH1_ENST00000438284.2_Missense_Mutation_p.A313V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	313					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATGCAGGCTGCGGCAGAGGGG	0.532													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20526	0.0		0.0	False		,,,				2504	0.0					ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(937-939)gCg>gTg		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						73.0	79.0	77.0					3																	11301661		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301661C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.938C>T	3.37:g.11301661C>T	ENSP00000380247:p.Ala313Val					HRH1_ENST00000431010.2_Missense_Mutation_p.A313V|HRH1_ENST00000438284.2_Missense_Mutation_p.A313V	p.A313V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	1129	+			313					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.938C>T	CCDS2604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.962	-0.214419	0.06101	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	-3.59	0.04583	GPCR, rhodopsin-like superfamily (1);	1.289470	0.05176	N	0.500457	T	0.30262	0.0759	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.08680	-1.0710	10	0.27785	T	0.31	-0.8513	0.6854	0.00882	0.1913:0.25:0.171:0.3876	.	313	P35367	HRH1_HUMAN	V	313	ENSP00000406705:A313V;ENSP00000397028:A313V;ENSP00000380247:A313V	ENSP00000380247:A313V	A	+	2	0	HRH1	11276661	0.000000	0.05858	0.028000	0.17463	0.030000	0.12068	-0.275000	0.08525	-0.167000	0.10871	-1.119000	0.02030	GCG		0.532	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			20	40	0	0	0	1	0	20	40				
GRIN2C	2905	broad.mit.edu	37	17	72843517	72843517	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72843517G>A	ENST00000293190.5	-	9	2077	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	GRIN2C_ENST00000347612.4_Missense_Mutation_p.T644M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	644					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGTTGGCCGTGTAGCTGGC	0.582																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1930-1932)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						123.0	111.0	115.0					17																	72843517		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843517G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1931C>T	17.37:g.72843517G>A	ENSP00000293190:p.Thr644Met					GRIN2C_ENST00000347612.4_Missense_Mutation_p.T644M	p.T644M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	2077	-	all_lung(278;0.172)|Lung NSC(278;0.207)		644					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1931C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453739	0.43531	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.61627	0.09	4.2	4.2	0.49525	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85532	0.1210	10	0.87932	D	0	.	16.6827	0.85297	0.0:0.0:1.0:0.0	.	678;644	Q8IW23;Q14957	.;NMDE3_HUMAN	M	644;678	ENSP00000293190:T644M	ENSP00000293190:T644M	T	-	2	0	GRIN2C	70355112	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	9.588000	0.98232	2.309000	0.77851	0.491000	0.48974	ACG		0.582	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	91	0	0	0	1	0	4	91				
PPM1L	151742	broad.mit.edu	37	3	160783259	160783259	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:160783259G>A	ENST00000498165.1	+	3	744	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	PPM1L_ENST00000464260.1_Missense_Mutation_p.G36R|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88R|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	215	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGACTCGCGCGGGGTCCTGTG	0.488																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(643-645)Ggg>Agg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							111.0	109.0	110.0					3																	160783259		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783259G>A	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.643G>A	3.37:g.160783259G>A	ENSP00000417659:p.Gly215Arg					PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36R|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88R	p.G215R	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	744	+			215			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.643G>A	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831346	0.71258	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.17691	2.26;2.26;2.26	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.979;0.994	T	0.53961	-0.8364	10	0.87932	D	0	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	88;215	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	R	215;36;88	ENSP00000417659:G215R;ENSP00000420746:G36R;ENSP00000295839:G88R	ENSP00000295839:G88R	G	+	1	0	PPM1L	162265953	1.000000	0.71417	0.830000	0.32933	0.231000	0.25187	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	GGG		0.488	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		36	48	0	0	0	1	0	36	48				
CCDC180	100499483	broad.mit.edu	37	9	100137804	100137804	+	Missense_Mutation	SNP	C	C	T	rs566316997		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100137804C>T	ENST00000357054.1	+	48	5677	c.4742C>T	c.(4741-4743)tCg>tTg	p.S1581L	CCDC180_ENST00000375202.2_Missense_Mutation_p.S1636L|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1636L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1581						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCAACATCATCGATTTCCACC	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18360	0.0		0.0	False		,,,				2504	0.0					ENST00000375202.2																			0											c.(4906-4908)tCg>tTg		coiled-coil domain containing 180							162.0	129.0	140.0					9																	100137804		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100137804C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4742C>T	9.37:g.100137804C>T	ENSP00000349562:p.Ser1581Leu					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1636L|CCDC180_ENST00000357054.1_Missense_Mutation_p.S1581L	p.S1636L							50	6259	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4907C>T		.	.	.	.	.	.	.	.	.	.	C	12.60	1.986043	0.35036	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.10960	2.82;2.82;2.82	5.58	3.71	0.42584	.	0.558411	0.18851	N	0.129409	T	0.27098	0.0664	M	0.66939	2.045	0.09310	N	0.999993	D;D	0.89917	0.992;1.0	P;D	0.71870	0.738;0.975	T	0.03463	-1.1034	10	0.51188	T	0.08	-3.7231	9.4455	0.38695	0.163:0.6804:0.1567:0.0	.	1775;1581	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1581;1636;1636	ENSP00000349562:S1581L;ENSP00000364348:S1636L;ENSP00000434727:S1636L	ENSP00000349562:S1581L	S	+	2	0	C9orf174	99177625	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	1.773000	0.38563	0.811000	0.34303	-0.181000	0.13052	TCG		0.547	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		20	40	0	0	0	1	0	20	40				
ART5	116969	broad.mit.edu	37	11	3660067	3660067	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3660067C>T	ENST00000397068.3	-	4	1213				ART5_ENST00000359918.4_Intron|ART5_ENST00000397067.3_Silent_p.Q233Q|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5						protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCCTGAGAGCTGGAACTCTC	0.597																																						ENST00000397067.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(697-699)caG>caA		ADP-ribosyltransferase 5							57.0	55.0	56.0					11																	3660067		2201	4298	6499	SO:0001627	intron_variant	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660067C>T	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.821-44G>A	11.37:g.3660067C>T						ART5_ENST00000359918.4_Intron|ART5_ENST00000397068.3_Intron	p.Q233Q			Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	828	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	158					C9IYG7|Q6UX84|Q86W02	Silent	SNP	ENST00000397068.3	37	c.699G>A	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	C	1.142	-0.649369	0.03506	.	.	ENSG00000167311	ENST00000453353	.	.	.	5.65	3.73	0.42828	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.22851	N	0.998656	.	.	.	.	.	.	T	0.18618	-1.0331	4	.	.	.	.	8.1346	0.31048	0.0:0.7568:0.1588:0.0844	.	.	.	.	T	258	.	.	A	-	1	0	ART5	3616643	0.948000	0.32251	0.314000	0.25224	0.621000	0.37620	1.013000	0.29937	1.604000	0.50143	0.655000	0.94253	GCT		0.597	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		21	20	0	0	0	1	0	21	20				
TLL1	7092	broad.mit.edu	37	4	166996046	166996046	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:166996046T>C	ENST00000061240.2	+	17	2852	c.2205T>C	c.(2203-2205)tcT>tcC	p.S735S	TLL1_ENST00000507499.1_Silent_p.S758S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	735	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGAATGCTCTAAGGATAATG	0.383																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2203-2205)tcT>tcC		tolloid-like 1							189.0	157.0	168.0					4																	166996046		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166996046T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2205T>C	4.37:g.166996046T>C						TLL1_ENST00000507499.1_Silent_p.S758S	p.S735S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	17	2852	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	735			EGF-like 2; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2205T>C	CCDS3811.1																																																																																				0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			18	70	0	0	0	1	0	18	70				
RASA3	22821	broad.mit.edu	37	13	114757965	114757965	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114757965C>T	ENST00000334062.7	-	22	2362	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	RASA3_ENST00000389544.4_Missense_Mutation_p.M715I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	747					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACTCACCCTGCATCTTCTCCA	0.602																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(2239-2241)atG>atA		RAS p21 protein activator 3							100.0	74.0	83.0					13																	114757965		2203	4297	6500	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114757965C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2241G>A	13.37:g.114757965C>T	ENSP00000335029:p.Met747Ile					RASA3_ENST00000389544.4_Missense_Mutation_p.M715I	p.M747I	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2362	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	747					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2241G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706372	0.68615	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.85556	-1.9;-2.0	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.68952	2.095	0.80722	D	1	P	0.35124	0.485	B	0.42422	0.387	D	0.85756	0.1346	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	747	Q14644	RASA3_HUMAN	I	747;715	ENSP00000335029:M747I;ENSP00000374195:M715I	.	M	-	3	0	RASA3	113776067	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	ATG		0.602	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		16	24	0	0	0	1	0	16	24				
ATP8B2	57198	broad.mit.edu	37	1	154303924	154303924	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154303924G>A	ENST00000368489.3	+	6	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R103H|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R122H	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	122					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCAGTTCCGCCACAAGAGC	0.502																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(406-408)cGc>cAc		ATPase, aminophospholipid transporter, class I, type 8B, member 2							91.0	91.0	91.0					1																	154303924		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303924G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.407G>A	1.37:g.154303924G>A	ENSP00000357475:p.Arg136His					ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R122H|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R103H	p.R136H	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	407	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		122					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.407G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364229	0.82463	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.85702	-2.02;-2.02;-2.02	5.49	5.49	0.81192	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	H	0.99770	4.765	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.283	D;D;B	0.85130	0.995;0.997;0.153	D	0.98300	1.0518	10	0.87932	D	0	.	18.3569	0.90361	0.0:0.0:1.0:0.0	.	122;136;103	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	H	103;136;122	ENSP00000357472:R103H;ENSP00000357475:R136H;ENSP00000340448:R122H	ENSP00000340448:R122H	R	+	2	0	ATP8B2	152570548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.573000	0.86826	0.561000	0.74099	CGC		0.502	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		18	35	0	0	0	1	0	18	35				
HIST1H4A	8359	broad.mit.edu	37	6	26021992	26021992	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26021992G>A	ENST00000359907.3	+	1	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	29					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						AACATCCAGGGCATCACCAAG	0.617																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(85-87)gGc>gAc		histone cluster 1, H4a							77.0	78.0	77.0					6																	26021992		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26021992G>A	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.86G>A	6.37:g.26021992G>A	ENSP00000352980:p.Gly29Asp						p.G29D	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	86	+			29					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.86G>A	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.011987	0.93346	.	.	ENSG00000196176	ENST00000359907	T	0.67523	-0.27	3.79	3.79	0.43588	.	.	.	.	.	T	0.67097	0.2857	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	T	0.67937	-0.5541	5	.	.	.	.	15.5278	0.75925	0.0:0.0:1.0:0.0	.	.	.	.	D	29	ENSP00000352980:G29D	.	G	+	2	0	HIST1H4A	26129971	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.138000	0.94501	2.033000	0.60031	0.655000	0.94253	GGC		0.617	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		20	22	0	0	0	1	0	20	22				
CHRNA10	57053	broad.mit.edu	37	11	3687551	3687551	+	Missense_Mutation	SNP	G	G	A	rs141309069		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3687551G>A	ENST00000250699.2	-	5	1210	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	380					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCAAGGGCCCGCTGGGGGGCC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15662	0.0		0.0	False		,,,				2504	0.001				Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(1138-1140)gCg>gTg		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	G	VAL/ALA	0,4402		0,0,2201	47.0	53.0	51.0		1139	2.3	0.2	11	dbSNP_134	51	5,8589	3.7+/-12.6	0,5,4292	yes	missense	CHRNA10	NM_020402.2	64	0,5,6493	AA,AG,GG		0.0582,0.0,0.0385	benign	380/451	3687551	5,12991	2201	4297	6498	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687551G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1139C>T	11.37:g.3687551G>A	ENSP00000250699:p.Ala380Val					CHRNA10_ENST00000534359.1_3'UTR	p.A380V	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1210	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	380						Missense_Mutation	SNP	ENST00000250699.2	37	c.1139C>T	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254365	0.10185	0.0	5.82E-4	ENSG00000129749	ENST00000250699	T	0.69926	-0.44	5.28	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.844600	0.03103	N	0.161471	T	0.54886	0.1886	N	0.22421	0.69	0.09310	N	0.999993	B	0.21905	0.062	B	0.15052	0.012	T	0.38585	-0.9654	10	0.30854	T	0.27	.	9.7532	0.40487	0.0:0.1296:0.4689:0.4014	.	380	Q9GZZ6	ACH10_HUMAN	V	380	ENSP00000250699:A380V	ENSP00000250699:A380V	A	-	2	0	CHRNA10	3644127	0.000000	0.05858	0.196000	0.23383	0.075000	0.17131	0.349000	0.20055	0.290000	0.22444	-0.268000	0.10319	GCG		0.672	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			22	47	0	0	0	1	0	22	47				
ROM1	6094	broad.mit.edu	37	11	62381330	62381330	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62381330C>T	ENST00000278833.3	+	1	1118	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	EML3_ENST00000529309.1_5'Flank|EML3_ENST00000394773.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000494176.2_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000278845.4_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	193					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TCCCGGTGACCGGGATGTGGC	0.622																																						ENST00000278833.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						c.(577-579)Cgg>Tgg		retinal outer segment membrane protein 1							57.0	65.0	62.0					11																	62381330		2202	4299	6501	SO:0001583	missense	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62381330C>T	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.577C>T	11.37:g.62381330C>T	ENSP00000278833:p.Arg193Trp					ROM1_ENST00000534093.1_Intron	p.R193W	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN			1	1118	+			193					B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	c.577C>T	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821338	0.32237	.	.	ENSG00000149489	ENST00000278833	T	0.03242	4.0	4.89	4.89	0.63831	Tetraspanin, EC2 domain (1);	0.184417	0.46758	D	0.000271	T	0.02267	0.0070	N	0.24115	0.695	0.24140	N	0.995739	P	0.51791	0.948	B	0.28232	0.087	T	0.50608	-0.8808	10	0.87932	D	0	-15.8267	10.6181	0.45462	0.1915:0.8085:0.0:0.0	.	193	Q03395	ROM1_HUMAN	W	193	ENSP00000278833:R193W	ENSP00000278833:R193W	R	+	1	2	ROM1	62137906	0.996000	0.38824	1.000000	0.80357	0.017000	0.09413	0.641000	0.24720	2.544000	0.85801	0.313000	0.20887	CGG		0.622	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		8	26	0	0	0	1	0	8	26				
CYP27B1	1594	broad.mit.edu	37	12	58158892	58158892	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58158892G>A	ENST00000228606.4	-	4	901	c.692C>T	c.(691-693)tCc>tTc	p.S231F	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	231					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)			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)	CAACAGCGTGGACACAAACAC	0.657											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(691-693)tCc>tTc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						59.0	53.0	55.0					12																	58158892		2203	4300	6503	SO:0001583	missense	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.chr12:58158892G>A	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.692C>T	12.37:g.58158892G>A	ENSP00000228606:p.Ser231Phe		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.S231F	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	901	-	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)		231					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.692C>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692544	0.48202	.	.	ENSG00000111012	ENST00000228606	T	0.69561	-0.41	5.06	5.06	0.68205	.	0.104845	0.64402	D	0.000007	T	0.62672	0.2447	L	0.56199	1.76	0.41569	D	0.988674	B	0.29552	0.248	B	0.41135	0.348	T	0.55386	-0.8149	10	0.12766	T	0.61	.	7.5089	0.27562	0.1751:0.0:0.8249:0.0	.	231	O15528	CP27B_HUMAN	F	231	ENSP00000228606:S231F	ENSP00000228606:S231F	S	-	2	0	CYP27B1	56445159	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.554000	0.67294	2.625000	0.88918	0.561000	0.74099	TCC		0.657	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		16	19	0	0	0	1	0	16	19				
LILRB5	10990	broad.mit.edu	37	19	54760570	54760570	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54760570G>A	ENST00000316219.5	-	3	244	c.137C>T	c.(136-138)aCc>aTc	p.T46I	LILRB5_ENST00000450632.1_Missense_Mutation_p.T46I|LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I|LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	46	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T46I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACCAGAGGGTCACGGGCTT	0.622																																						ENST00000450632.1																			2	Substitution - Missense(2)	p.T46I(2)	kidney(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(136-138)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							85.0	89.0	88.0					19																	54760570		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760570G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.137C>T	19.37:g.54760570G>A	ENSP00000320390:p.Thr46Ile					LILRB5_ENST00000316219.5_Missense_Mutation_p.T46I|LILRB5_ENST00000345866.6_Missense_Mutation_p.T46I|LILRB5_ENST00000449561.2_Missense_Mutation_p.T46I	p.T46I			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	214	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		46			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.137C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127772	0.37533	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.18	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232248	0.30347	N	0.009824	T	0.32224	0.0822	M	0.62154	1.92	0.09310	N	1	D;D;D;D;D	0.89917	0.992;0.999;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.959;0.967;0.947;0.988;0.949	T	0.02991	-1.1085	10	0.66056	D	0.02	.	6.5944	0.22664	0.1402:0.0:0.8598:0.0	.	46;37;46;46;46	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	46	ENSP00000320390:T46I;ENSP00000414225:T46I;ENSP00000406478:T46I;ENSP00000263430:T46I	ENSP00000320390:T46I	T	-	2	0	LILRB5	59452382	0.108000	0.22018	0.030000	0.17652	0.002000	0.02628	0.642000	0.24735	0.670000	0.31165	-0.203000	0.12734	ACC		0.622	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			11	99	0	0	0	1	0	11	99				
AGO3	192669	broad.mit.edu	37	1	36474545	36474545	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36474545C>T	ENST00000373191.4	+	8	1278	c.929C>T	c.(928-930)gCg>gTg	p.A310V	AGO3_ENST00000246314.6_Missense_Mutation_p.A76V|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	310	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AGAACAGTAGCGCAGTATTTC	0.443																																						ENST00000373191.4																			0											c.(928-930)gCg>gTg		argonaute RISC catalytic component 3							83.0	85.0	84.0					1																	36474545		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36474545C>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.929C>T	1.37:g.36474545C>T	ENSP00000362287:p.Ala310Val					RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A76V	p.A310V	NM_024852.3	NP_079128.2					8	1278	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.929C>T	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916728	0.52546	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.14893	2.47;2.47	5.58	5.58	0.84498	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	L	0.45470	1.425	0.80722	D	1	B	0.24092	0.097	B	0.32724	0.151	T	0.06935	-1.0799	10	0.10377	T	0.69	-30.8593	19.5743	0.95436	0.0:1.0:0.0:0.0	.	310	Q9H9G7	AGO3_HUMAN	V	310;76	ENSP00000362287:A310V;ENSP00000246314:A76V	ENSP00000246314:A76V	A	+	2	0	EIF2C3	36247132	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	GCG		0.443	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		20	38	0	0	0	1	0	20	38				
KLHL28	54813	broad.mit.edu	37	14	45403751	45403751	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45403751A>G	ENST00000396128.4	-	3	1029	c.910T>C	c.(910-912)Tac>Cac	p.Y304H	KLHL28_ENST00000355081.2_Missense_Mutation_p.Y318H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	304										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAGGAAAGTACATCTCCACa	0.338																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(910-912)Tac>Cac		kelch-like family member 28							38.0	37.0	38.0					14																	45403751		2203	4299	6502	SO:0001583	missense	54813							g.chr14:45403751A>G	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.910T>C	14.37:g.45403751A>G	ENSP00000379434:p.Tyr304His					KLHL28_ENST00000355081.2_Missense_Mutation_p.Y318H	p.Y304H	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1029	-			304					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.910T>C	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072167	0.76415	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.79247	-1.25;-1.25	5.38	5.38	0.77491	Kelch-type beta propeller (1);	0.171581	0.53938	D	0.000055	D	0.85801	0.5781	M	0.91872	3.25	0.80722	D	1	P	0.50272	0.933	P	0.48189	0.57	D	0.89411	0.3703	10	0.87932	D	0	.	15.3385	0.74277	1.0:0.0:0.0:0.0	.	304	Q9NXS3	KLH28_HUMAN	H	304;318	ENSP00000379434:Y304H;ENSP00000347193:Y318H	ENSP00000347193:Y318H	Y	-	1	0	KLHL28	44473501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.715000	0.91416	2.157000	0.67596	0.455000	0.32223	TAC		0.338	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			10	29	0	0	0	1	0	10	29				
DCHS1	8642	broad.mit.edu	37	11	6646561	6646561	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6646561G>A	ENST00000299441.3	-	19	7425	c.7014C>T	c.(7012-7014)gaC>gaT	p.D2338D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2338	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCTCAAAGTCCAGGGGCC	0.612																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7012-7014)gaC>gaT		dachsous cadherin-related 1							64.0	64.0	64.0					11																	6646561		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646561G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7014C>T	11.37:g.6646561G>A							p.D2338D	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	19	7425	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2338			Cadherin 22.		O15098	Silent	SNP	ENST00000299441.3	37	c.7014C>T	CCDS7771.1																																																																																				0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	11	0	0	0	1	0	13	11				
COPB2	9276	broad.mit.edu	37	3	139088199	139088199	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:139088199G>A	ENST00000333188.5	-	12	1486	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	COPB2_ENST00000507777.1_Silent_p.G406G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	435					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATAAGAAGCCGCCGTAGATAC	0.368																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1303-1305)ggC>ggT		coatomer protein complex, subunit beta 2 (beta prime)							74.0	83.0	80.0					3																	139088199		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139088199G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1305C>T	3.37:g.139088199G>A						COPB2_ENST00000507777.1_Silent_p.G406G	p.G435G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			12	1486	-			435					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.1305C>T	CCDS3108.1																																																																																				0.368	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		15	82	0	0	0	1	0	15	82				
C9orf172	389813	broad.mit.edu	37	9	139738942	139738942	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139738942G>A	ENST00000436881.1	+	1	76	c.76G>A	c.(76-78)Gcg>Acg	p.A26T		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	26										endometrium(2)|large_intestine(1)|lung(6)	9						CCCGGGACCCGCGTCCAAGTG	0.662																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(76-78)Gcg>Acg		chromosome 9 open reading frame 172							23.0	26.0	25.0					9																	139738942		2041	4182	6223	SO:0001583	missense	389813							g.chr9:139738942G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.76G>A	9.37:g.139738942G>A	ENSP00000412388:p.Ala26Thr						p.A26T	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	76	+			26						Missense_Mutation	SNP	ENST00000436881.1	37	c.76G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	5.275	0.236226	0.10023	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.86	2.93	0.34026	.	.	.	.	.	T	0.20292	0.0488	N	0.12182	0.205	0.21822	N	0.999521	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	8	0.02654	T	1	.	9.2324	0.37446	0.114:0.0:0.886:0.0	.	26	C9J069	CI172_HUMAN	T	26	.	ENSP00000412388:A26T	A	+	1	0	C9orf172	138858763	0.000000	0.05858	0.827000	0.32855	0.660000	0.38997	0.379000	0.20585	0.567000	0.29293	0.462000	0.41574	GCG		0.662	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		7	2	0	0	0	1	0	7	2				
AGTR1	185	broad.mit.edu	37	3	148459669	148459669	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148459669G>A	ENST00000497524.1	+	2	1238	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	AGTR1_ENST00000461609.1_Missense_Mutation_p.A283T|AGTR1_ENST00000349243.3_Missense_Mutation_p.A283T|AGTR1_ENST00000402260.1_Missense_Mutation_p.A283T|AGTR1_ENST00000418473.2_Missense_Mutation_p.A283T|AGTR1_ENST00000542281.1_Missense_Mutation_p.A283T|AGTR1_ENST00000475347.1_Missense_Mutation_p.A283T|AGTR1_ENST00000474935.1_Missense_Mutation_p.A283T|AGTR1_ENST00000404754.2_Missense_Mutation_p.A283T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	283					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.A283T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGTGGACACGGCCATGCCTAT	0.363																																						ENST00000542281.1																			1	Substitution - Missense(1)	p.A283T(1)	lung(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(847-849)Gcc>Acc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						103.0	96.0	98.0					3																	148459669		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459669G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.847G>A	3.37:g.148459669G>A	ENSP00000419422:p.Ala283Thr					AGTR1_ENST00000474935.1_Missense_Mutation_p.A283T|AGTR1_ENST00000418473.2_Missense_Mutation_p.A283T|AGTR1_ENST00000402260.1_Missense_Mutation_p.A283T|AGTR1_ENST00000497524.1_Missense_Mutation_p.A283T|AGTR1_ENST00000475347.1_Missense_Mutation_p.A283T|AGTR1_ENST00000461609.1_Missense_Mutation_p.A283T|AGTR1_ENST00000404754.2_Missense_Mutation_p.A283T|AGTR1_ENST00000349243.3_Missense_Mutation_p.A283T	p.A283T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1293	+			283					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.847G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275945	0.80580	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.118100	0.56097	D	0.000029	T	0.66268	0.2772	M	0.72894	2.215	0.80722	D	1	P	0.43633	0.813	P	0.54664	0.758	T	0.66858	-0.5817	10	0.72032	D	0.01	-15.5318	19.9759	0.97304	0.0:0.0:1.0:0.0	.	283	P30556	AGTR1_HUMAN	T	283	ENSP00000419422:A283T;ENSP00000273430:A283T;ENSP00000443186:A283T;ENSP00000398832:A283T;ENSP00000385612:A283T;ENSP00000419783:A283T;ENSP00000418084:A283T;ENSP00000418851:A283T;ENSP00000385641:A283T	ENSP00000273430:A283T	A	+	1	0	AGTR1	149942359	1.000000	0.71417	0.963000	0.40424	0.486000	0.33341	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GCC		0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			13	92	0	0	0	1	0	13	92				
LIPG	9388	broad.mit.edu	37	18	47107896	47107896	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:47107896G>A	ENST00000261292.4	+	6	1183	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LIPG_ENST00000580036.1_Missense_Mutation_p.R302H|LIPG_ENST00000577628.1_Missense_Mutation_p.R338H|LIPG_ENST00000427224.2_Missense_Mutation_p.R228H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	302					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GACTCCAATCGCTTCAAAAAG	0.478																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(904-906)cGc>cAc		lipase, endothelial							108.0	108.0	108.0					18																	47107896		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107896G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.905G>A	18.37:g.47107896G>A	ENSP00000261292:p.Arg302His					LIPG_ENST00000577628.1_Missense_Mutation_p.R338H|LIPG_ENST00000580036.1_Missense_Mutation_p.R302H|LIPG_ENST00000427224.2_Missense_Mutation_p.R228H	p.R302H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			6	1183	+			302					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.905G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519427	0.96416	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91068	-2.78;-2.78	5.79	5.79	0.91817	Lipase, N-terminal (1);	0.089862	0.85682	D	0.000000	D	0.93390	0.7892	L	0.38838	1.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93520	0.6860	10	0.62326	D	0.03	-21.1183	20.0204	0.97499	0.0:0.0:1.0:0.0	.	228;302;302	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	302;228	ENSP00000261292:R302H;ENSP00000387978:R228H	ENSP00000261292:R302H	R	+	2	0	LIPG	45361894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.904000	0.87408	2.740000	0.93945	0.561000	0.74099	CGC		0.478	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		32	58	0	0	0	1	0	32	58				
NAV3	89795	broad.mit.edu	37	12	78401186	78401186	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78401186G>A	ENST00000397909.2	+	8	2041	c.1868G>A	c.(1867-1869)aGc>aAc	p.S623N	NAV3_ENST00000266692.7_Missense_Mutation_p.S623N|NAV3_ENST00000536525.2_Missense_Mutation_p.S623N|NAV3_ENST00000228327.6_Missense_Mutation_p.S623N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	623						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCAACATAGCCACCCGAAT	0.488										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1867-1869)aGc>aAc		neuron navigator 3							126.0	125.0	125.0					12																	78401186		2088	4207	6295	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401186G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1868G>A	12.37:g.78401186G>A	ENSP00000381007:p.Ser623Asn	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.S623N|NAV3_ENST00000536525.2_Missense_Mutation_p.S623N|NAV3_ENST00000228327.6_Missense_Mutation_p.S623N	p.S623N			Q8IVL0	NAV3_HUMAN			8	2041	+			623					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1868G>A		.	.	.	.	.	.	.	.	.	.	G	5.647	0.304046	0.10678	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	4.84	3.94	0.45596	.	0.279042	0.24676	U	0.036502	T	0.09335	0.0230	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12372	-1.0550	10	0.12430	T	0.62	-3.4815	13.6283	0.62181	0.0:0.2967:0.7033:0.0	.	623;623	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	623	ENSP00000446628:S623N;ENSP00000446132:S623N;ENSP00000381007:S623N;ENSP00000228327:S623N;ENSP00000266692:S623N	ENSP00000228327:S623N	S	+	2	0	NAV3	76925317	1.000000	0.71417	0.994000	0.49952	0.657000	0.38888	2.315000	0.43752	1.019000	0.39547	-0.315000	0.08773	AGC		0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		5	59	0	0	0	1	0	5	59				
IGBP1	3476	broad.mit.edu	37	X	69354563	69354563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69354563C>T	ENST00000342206.6	+	2	878	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	IGBP1_ENST00000356413.4_Missense_Mutation_p.P127S			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	127	Interaction with PPP2CA.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GTTTGAGCTGCCCAAAACCAT	0.453																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(379-381)Ccc>Tcc		immunoglobulin (CD79A) binding protein 1							79.0	67.0	71.0					X																	69354563		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69354563C>T	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.379C>T	X.37:g.69354563C>T	ENSP00000363661:p.Pro127Ser					IGBP1_ENST00000356413.4_Missense_Mutation_p.P127S	p.P127S			P78318	IGBP1_HUMAN			2	878	+			127					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.379C>T	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.146788	0.77888	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.39406	1.08;1.08	4.81	4.81	0.61882	.	0.052958	0.85682	D	0.000000	T	0.61198	0.2328	M	0.67397	2.05	0.80722	D	1	D	0.61697	0.99	D	0.69654	0.965	T	0.64820	-0.6317	10	0.72032	D	0.01	.	14.4028	0.67060	0.0:1.0:0.0:0.0	.	127	P78318	IGBP1_HUMAN	S	127	ENSP00000363661:P127S;ENSP00000348784:P127S	ENSP00000363661:P127S	P	+	1	0	IGBP1	69271288	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	6.175000	0.71949	2.368000	0.80403	0.600000	0.82982	CCC		0.453	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			3	19	0	0	0	1	0	3	19				
FERMT3	83706	broad.mit.edu	37	11	63974967	63974967	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63974967G>A	ENST00000279227.5	+	2	226	c.131G>A	c.(130-132)gGg>gAg	p.G44E	FERMT3_ENST00000345728.5_Missense_Mutation_p.G44E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	44					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CACATCGGCGGGGTGCTCCTG	0.647																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(130-132)gGg>gAg		fermitin family member 3							46.0	51.0	49.0					11																	63974967		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63974967G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.131G>A	11.37:g.63974967G>A	ENSP00000279227:p.Gly44Glu					FERMT3_ENST00000345728.5_Missense_Mutation_p.G44E	p.G44E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			2	226	+			44					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.131G>A	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557350	0.96514	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.54866	1.81;0.55;0.55	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.70595	2.14	0.80722	D	1	D;P	0.89917	1.0;0.771	D;P	0.91635	0.999;0.804	T	0.75619	-0.3255	10	0.87932	D	0	-38.9425	16.4362	0.83875	0.0:0.0:1.0:0.0	.	44;44	Q86UX7-2;Q86UX7	.;URP2_HUMAN	E	44	ENSP00000445778:G44E;ENSP00000339950:G44E;ENSP00000279227:G44E	ENSP00000279227:G44E	G	+	2	0	FERMT3	63731543	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.521000	0.90569	2.502000	0.84385	0.561000	0.74099	GGG		0.647	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		24	40	0	0	0	1	0	24	40				
ZNF555	148254	broad.mit.edu	37	19	2853573	2853573	+	Missense_Mutation	SNP	G	G	A	rs201040185		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2853573G>A	ENST00000334241.4	+	4	1648	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	ZNF555_ENST00000591539.1_Missense_Mutation_p.A503T|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AAGACATACCGCAGAGAAACT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		24813	0.0		0.0	False		,,,				2504	0.0					ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1510-1512)Gca>Aca		zinc finger protein 555		G	THR/ALA,THR/ALA	0,4406	2.1+/-5.4	0,0,2203	116.0	107.0	110.0		1507,1510	1.0	0.0	19		110	1,8599		0,1,4299	yes	missense,missense	ZNF555	NM_001172775.1,NM_152791.4	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	503/628,504/629	2853573	1,13005	2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853573G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1510G>A	19.37:g.2853573G>A	ENSP00000334853:p.Ala504Thr					ZNF555_ENST00000591539.1_Missense_Mutation_p.A503T|AC006130.3_ENST00000589365.1_RNA	p.A504T	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1648	+			504					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1510G>A	CCDS12096.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.26	1.587745	0.28268	0.0	1.16E-4	ENSG00000186300	ENST00000334241	T	0.17854	2.25	3.22	0.998	0.19857	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.11131	0.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.30736	-0.9968	9	0.72032	D	0.01	.	7.2694	0.26248	0.2359:0.0:0.7641:0.0	.	504;503	Q8NEP9;A8KA89	ZN555_HUMAN;.	T	504	ENSP00000334853:A504T	ENSP00000334853:A504T	A	+	1	0	ZNF555	2804573	0.983000	0.35010	0.000000	0.03702	0.651000	0.38670	4.638000	0.61353	0.202000	0.20498	-0.254000	0.11334	GCA		0.418	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		18	54	0	0	0	1	0	18	54				
PGS1	9489	broad.mit.edu	37	17	76422601	76422601	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76422601G>A	ENST00000262764.6	+	0	2201				AC061992.1_ENST00000600087.1_Missense_Mutation_p.G65S|DNAH17_ENST00000389840.5_Silent_p.A4307A|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A4279A	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GGTAGGCCCGGGCCACCCACG	0.597																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000600087.1																			0											c.(193-195)Ggc>Agc									60.0	63.0	62.0					17																	76422601		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:76422601G>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422601G>A						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A4279A|DNAH17_ENST00000389840.5_Silent_p.A4307A	p.G65S							1	193	+								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.193G>A	CCDS42391.1																																																																																				0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		10	26	0	0	0	1	0	10	26				
FBN3	84467	broad.mit.edu	37	19	8182106	8182106	+	Missense_Mutation	SNP	C	C	T	rs149604266	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8182106C>T	ENST00000600128.1	-	28	3947	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R1178Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R1178Q			Q75N90	FBN3_HUMAN	fibrillin 3	1178	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGCTGCACCGGTAGCTGCC	0.612													C|||	5	0.000998403	0.003	0.0014	5008	,	,		13068	0.0		0.0	False		,,,				2504	0.0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3532-3534)cGg>cAg		fibrillin 3		C	GLN/ARG	15,4391	22.3+/-47.3	0,15,2188	86.0	68.0	74.0		3533	-7.2	0.1	19	dbSNP_134	74	1,8599		0,1,4299	yes	missense	FBN3	NM_032447.3	43	0,16,6487	TT,TC,CC		0.0116,0.3404,0.123	benign	1178/2810	8182106	16,12990	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8182106C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3533G>A	19.37:g.8182106C>T	ENSP00000470498:p.Arg1178Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.R1178Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R1178Q	p.R1178Q			Q75N90	FBN3_HUMAN			28	3947	-			1178			EGF-like 16; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3533G>A	CCDS12196.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.52	1.963282	0.34659	0.003404	1.16E-4	ENSG00000142449	ENST00000270509	D	0.96491	-4.03	3.68	-7.23	0.01480	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.454634	0.21104	N	0.080110	D	0.85066	0.5612	N	0.03608	-0.345	0.25785	N	0.984686	B	0.09022	0.002	B	0.06405	0.002	T	0.73867	-0.3847	10	0.28530	T	0.3	.	10.1924	0.43035	0.0:0.1089:0.1204:0.7707	.	1178	Q75N90	FBN3_HUMAN	Q	1178	ENSP00000270509:R1178Q	ENSP00000270509:R1178Q	R	-	2	0	FBN3	8088106	0.953000	0.32496	0.113000	0.21522	0.732000	0.41865	0.036000	0.13819	-1.436000	0.01970	0.313000	0.20887	CGG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	13	0	0	0	1	0	10	13				
SEPN1	57190	broad.mit.edu	37	1	26135571	26135571	+	Missense_Mutation	SNP	C	C	T	rs368074297		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26135571C>T	ENST00000374315.1	+	5	738	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	SEPN1_ENST00000354177.4_Missense_Mutation_p.R234C|SEPN1_ENST00000361547.2_Missense_Mutation_p.R268C	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	268						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGAAGACCCGCTTTGCCCC	0.647																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(802-804)Cgc>Tgc		selenoprotein N, 1		C	CYS/ARG,CYS/ARG	0,4106		0,0,2053	73.0	80.0	78.0		802,700	5.7	1.0	1		78	1,8373		0,1,4186	no	missense,missense	SEPN1	NM_020451.2,NM_206926.1	180,180	0,1,6239	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	268/591,234/557	26135571	1,12479	2053	4187	6240	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135571C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.700C>T	1.37:g.26135571C>T	ENSP00000363434:p.Arg234Cys					SEPN1_ENST00000354177.4_Missense_Mutation_p.R234C|SEPN1_ENST00000374315.1_Missense_Mutation_p.R234C	p.R268C	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	6	857	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	268					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.802C>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803731	0.96967	0.0	1.19E-4	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.94828	-3.5;-3.53;-3.52	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.97292	0.9925	10	0.87932	D	0	-29.0139	19.7891	0.96450	0.0:1.0:0.0:0.0	.	234;268	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	C	268;234;234	ENSP00000355141:R268C;ENSP00000346109:R234C;ENSP00000363434:R234C	ENSP00000346109:R234C	R	+	1	0	SEPN1	26008158	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.798000	0.55522	2.692000	0.91855	0.561000	0.74099	CGC		0.647	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		30	51	0	0	0	1	0	30	51				
SSTR1	6751	broad.mit.edu	37	14	38679546	38679546	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38679546G>A	ENST00000267377.2	+	3	1569	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	318					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CAACAGCTGCGCCAACCCCAT	0.582																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(952-954)Gcc>Acc		somatostatin receptor 1	Octreotide(DB00104)						139.0	128.0	132.0					14																	38679546		2203	4300	6503	SO:0001583	missense	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679546G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.952G>A	14.37:g.38679546G>A	ENSP00000267377:p.Ala318Thr						p.A318T	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1569	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		318						Missense_Mutation	SNP	ENST00000267377.2	37	c.952G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725162	0.89298	.	.	ENSG00000139874	ENST00000267377	T	0.37752	1.18	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.60547	0.2277	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64850	-0.6310	10	0.87932	D	0	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	318	P30872	SSR1_HUMAN	T	318	ENSP00000267377:A318T	ENSP00000267377:A318T	A	+	1	0	SSTR1	37749297	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.623000	0.98386	2.514000	0.84764	0.561000	0.74099	GCC		0.582	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			35	46	0	0	0	1	0	35	46				
B4GALT6	9331	broad.mit.edu	37	18	29210963	29210963	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29210963C>T	ENST00000306851.5	-	6	1031	c.735G>A	c.(733-735)atG>atA	p.M245I	B4GALT6_ENST00000383131.3_Missense_Mutation_p.M206I|B4GALT6_ENST00000237019.7_Missense_Mutation_p.M206I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	245					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AATGACGTGGCATTTCTCCAC	0.403																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.(733-735)atG>atA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							167.0	138.0	148.0					18																	29210963		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29210963C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.735G>A	18.37:g.29210963C>T	ENSP00000306459:p.Met245Ile					B4GALT6_ENST00000237019.7_Missense_Mutation_p.M206I|B4GALT6_ENST00000383131.3_Missense_Mutation_p.M206I	p.M245I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		6	1031	-			245					O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.735G>A	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952943	0.92660	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.34072	1.38;1.38;1.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.83118	2.625	0.80722	D	1	P;P;P	0.52316	0.952;0.937;0.902	P;P;P	0.56127	0.792;0.66;0.733	T	0.62455	-0.6851	10	0.49607	T	0.09	2.78	19.7586	0.96304	0.0:1.0:0.0:0.0	.	206;206;245	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	I	245;206;206	ENSP00000306459:M245I;ENSP00000237019:M206I;ENSP00000372613:M206I	ENSP00000237019:M206I	M	-	3	0	B4GALT6	27464961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.754000	0.94517	0.585000	0.79938	ATG		0.403	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		5	77	0	0	0	1	0	5	77				
C1QTNF6	114904	broad.mit.edu	37	22	37578308	37578308	+	Missense_Mutation	SNP	G	G	A	rs201178136		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37578308G>A	ENST00000337843.2	-	3	832	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	C1QTNF6_ENST00000255836.6_Missense_Mutation_p.R129C|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R253C|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCGTTCTCGCGCTGGCGCTTG	0.647																																						ENST00000337843.2																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(757-759)Cgc>Tgc		C1q and tumor necrosis factor related protein 6							77.0	67.0	71.0					22																	37578308		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578308G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.757C>T	22.37:g.37578308G>A	ENSP00000338812:p.Arg253Cys					C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.R129C|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.R253C	p.R253C	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	832	-			234			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.757C>T	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201268	0.58234	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.24350	1.86;1.86;1.86	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71151	-0.4676	10	0.87932	D	0	.	13.1847	0.59673	0.0:0.0:0.8406:0.1594	.	253;234	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	C	253;253;129	ENSP00000380299:R253C;ENSP00000338812:R253C;ENSP00000255836:R129C	ENSP00000255836:R129C	R	-	1	0	C1QTNF6	35908254	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	3.846000	0.55888	2.286000	0.76751	0.561000	0.74099	CGC		0.647	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		4	10	0	0	0	1	0	4	10				
HOXA2	3199	broad.mit.edu	37	7	27142053	27142053	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27142053T>A	ENST00000222718.5	-	1	377	c.67A>T	c.(67-69)Aca>Tca	p.T23S	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	23					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGAAAAGATGTCAGGCACTCA	0.478																																						ENST00000222718.5																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						c.(67-69)Aca>Tca		homeobox A2							117.0	123.0	121.0					7																	27142053		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27142053T>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.67A>T	7.37:g.27142053T>A	ENSP00000222718:p.Thr23Ser						p.T23S	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN			1	377	-			23					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.67A>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677872	0.68042	.	.	ENSG00000105996	ENST00000222718	T	0.10099	2.91	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	M	0.78456	2.415	0.58432	D	0.999998	D	0.61697	0.99	D	0.64410	0.925	T	0.09250	-1.0683	10	0.72032	D	0.01	.	15.3211	0.74124	0.0:0.0:0.0:1.0	.	23	O43364	HXA2_HUMAN	S	23	ENSP00000222718:T23S	ENSP00000222718:T23S	T	-	1	0	HOXA2	27108578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.695000	0.68279	2.019000	0.59389	0.482000	0.46254	ACA		0.478	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			29	54	0	0	0	1	0	29	54				
CNTNAP5	129684	broad.mit.edu	37	2	125521312	125521312	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125521312T>C	ENST00000431078.1	+	15	2659	c.2295T>C	c.(2293-2295)acT>acC	p.T765T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	765	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TAGTTATCACTGATACCGACA	0.408																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2293-2295)acT>acC		contactin associated protein-like 5							87.0	80.0	82.0					2																	125521312		1846	4100	5946	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521312T>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2295T>C	2.37:g.125521312T>C							p.T765T	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2659	+			765			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2295T>C	CCDS46401.1																																																																																				0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	22	0	0	0	1	0	6	22				
EXOSC5	56915	broad.mit.edu	37	19	41903140	41903140	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41903140C>T	ENST00000221233.4	-	1	244	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32T|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TGTTCGCAGGCAAAGTGCCGG	0.587																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(94-96)Gcc>Acc		exosome component 5							128.0	121.0	123.0					19																	41903140		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903140C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.94G>A	19.37:g.41903140C>T	ENSP00000221233:p.Ala32Thr					CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32T|BCKDHA_ENST00000595085.1_Intron	p.A32T	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			1	244	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.94G>A	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168575	0.57584	.	.	ENSG00000077348	ENST00000221233	T	0.62105	0.05	5.55	5.55	0.83447	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	D	0.000054	T	0.37892	0.1020	N	0.03608	-0.345	0.42547	D	0.993098	B	0.27656	0.184	B	0.22152	0.038	T	0.34229	-0.9837	10	0.14656	T	0.56	-17.2989	16.5422	0.84395	0.0:1.0:0.0:0.0	.	32	Q9NQT4	EXOS5_HUMAN	T	32	ENSP00000221233:A32T	ENSP00000221233:A32T	A	-	1	0	EXOSC5	46594980	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.291000	0.51764	2.893000	0.99171	0.590000	0.80494	GCC		0.587	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		36	51	0	0	0	1	0	36	51				
ADCY9	115	broad.mit.edu	37	16	4164102	4164102	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4164102C>T	ENST00000294016.3	-	2	1880	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	448	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCCCGCCACGCAGTAGTAA	0.602																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1342-1344)Gtg>Atg		adenylate cyclase 9							81.0	88.0	86.0					16																	4164102		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164102C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1342G>A	16.37:g.4164102C>T	ENSP00000294016:p.Val448Met						p.V448M	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1880	-			448			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1342G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717724	0.68844	.	.	ENSG00000162104	ENST00000294016	D	0.82893	-1.66	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95680	0.8731	10	0.87932	D	0	.	18.9505	0.92640	0.0:1.0:0.0:0.0	.	448	O60503	ADCY9_HUMAN	M	448	ENSP00000294016:V448M	ENSP00000294016:V448M	V	-	1	0	ADCY9	4104103	1.000000	0.71417	0.964000	0.40570	0.663000	0.39108	7.814000	0.86154	2.481000	0.83766	0.555000	0.69702	GTG		0.602	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	67	0	0	0	1	0	4	67				
SLC5A2	6524	broad.mit.edu	37	16	31497156	31497156	+	Missense_Mutation	SNP	G	G	A	rs377126753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31497156G>A	ENST00000330498.3	+	4	429	c.410G>A	c.(409-411)cGc>cAc	p.R137H	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	137					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGCGGCCGCCGCATCCGCCTC	0.602																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25	GRCh37	CM034968	SLC5A2	M		c.(409-411)cGc>cAc		solute carrier family 5 (sodium/glucose cotransporter), member 2		G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	59.0	55.0	57.0		410	4.8	0.8	16		57	0,8600		0,0,4300	no	missense	SLC5A2	NM_003041.3	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	137/673	31497156	1,12993	2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31497156G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.410G>A	16.37:g.31497156G>A	ENSP00000327943:p.Arg137His						p.R137H	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			4	429	+			137					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.410G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045396	0.93685	2.28E-4	0.0	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88741	-2.42;-2.42	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	M	0.91300	3.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96236	0.9172	10	0.87932	D	0	.	15.2908	0.73865	0.0:0.0:1.0:0.0	.	137	P31639	SC5A2_HUMAN	H	137	ENSP00000327943:R137H;ENSP00000410601:R137H	ENSP00000327943:R137H	R	+	2	0	SLC5A2	31404657	1.000000	0.71417	0.833000	0.33012	0.943000	0.58893	7.688000	0.84153	2.485000	0.83878	0.313000	0.20887	CGC		0.602	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	20	0	0	0	1	0	12	20				
PRMT5	10419	broad.mit.edu	37	14	23396015	23396015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23396015C>T	ENST00000324366.8	-	5	682	c.459G>A	c.(457-459)atG>atA	p.M153I	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.M136I|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.M109I|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.M92I|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000538452.1_Missense_Mutation_p.M47I|RP11-298I3.1_ENST00000548819.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	153	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGGGTACCCGCATCCAGAACT	0.458																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(457-459)atG>atA		protein arginine methyltransferase 5							153.0	127.0	136.0					14																	23396015		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23396015C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.459G>A	14.37:g.23396015C>T	ENSP00000319169:p.Met153Ile					PRMT5_ENST00000553897.1_Missense_Mutation_p.M109I|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.M136I|PRMT5_ENST00000216350.8_Missense_Mutation_p.M92I|PRMT5_ENST00000538452.1_Missense_Mutation_p.M47I|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Intron	p.M153I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	5	682	-	all_cancers(95;2.76e-05)		153					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.459G>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	5.902	0.350586	0.11182	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616;ENST00000554910;ENST00000421938	.	.	.	5.39	4.49	0.54785	.	0.208574	0.56097	D	0.000028	T	0.22437	0.0541	N	0.01686	-0.76	0.38607	D	0.950816	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.25502	-1.0130	9	0.02654	T	1	-20.6412	13.4953	0.61421	0.0:0.9221:0.0:0.0779	.	109;92;153;136	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	I	153;136;92;47;109;54;108;115;111;163	.	ENSP00000216350:M92I	M	-	3	0	PRMT5	22465855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.685000	0.25378	2.537000	0.85549	0.655000	0.94253	ATG		0.458	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			30	32	0	0	0	1	0	30	32				
CDH12	1010	broad.mit.edu	37	5	21802475	21802475	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:21802475G>T	ENST00000382254.1	-	10	2143	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.L353I|CDH12_ENST00000522262.1_Missense_Mutation_p.L313I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCAAGGTGAAGGTTGGAAGCC	0.438										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1057-1059)Ctt>Att		cadherin 12, type 2 (N-cadherin 2)							63.0	64.0	63.0					5																	21802475		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802475G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1057C>A	5.37:g.21802475G>T	ENSP00000371689:p.Leu353Ile	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.L353I|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.L313I	p.L353I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			10	2143	-			353			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1057C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777351	0.31411	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52754	0.65;0.65;0.65	5.7	1.69	0.24217	Cadherin (4);Cadherin-like (1);	0.256423	0.38720	N	0.001593	T	0.22513	0.0543	N	0.04959	-0.14	0.32904	D	0.513657	B;B	0.14012	0.0;0.009	B;B	0.13407	0.005;0.009	T	0.13548	-1.0505	10	0.28530	T	0.3	.	7.728	0.28771	0.065:0.4529:0.3657:0.1164	.	313;353	B7Z2U6;P55289	.;CAD12_HUMAN	I	353;353;313	ENSP00000423577:L353I;ENSP00000371689:L353I;ENSP00000428786:L313I	ENSP00000371689:L353I	L	-	1	0	CDH12	21838232	0.923000	0.31300	0.983000	0.44433	0.987000	0.75469	0.724000	0.25954	0.020000	0.15106	0.655000	0.94253	CTT		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		11	23	1	0	1.08611e-07	1	1.14056e-07	11	23				
CPNE8	144402	broad.mit.edu	37	12	39047823	39047823	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39047823C>T	ENST00000331366.5	-	20	1652	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	CPNE8_ENST00000360449.3_Missense_Mutation_p.S507N|CPNE8_ENST00000538596.2_Missense_Mutation_p.S188N|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	519						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCTAGCCATGCTCAGTATGTG	0.453																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1555-1557)aGc>aAc		copine VIII							89.0	81.0	84.0					12																	39047823		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39047823C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1556G>A	12.37:g.39047823C>T	ENSP00000329748:p.Ser519Asn					CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Missense_Mutation_p.S188N|CPNE8_ENST00000360449.3_Missense_Mutation_p.S507N	p.S519N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			20	1652	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	519					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1556G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154103	0.78114	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.25912	1.77;1.9;1.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.33292	-0.9874	10	0.38643	T	0.18	-16.7917	17.0471	0.86507	0.0:1.0:0.0:0.0	.	519	Q86YQ8	CPNE8_HUMAN	N	519;188;507	ENSP00000329748:S519N;ENSP00000439237:S188N;ENSP00000353633:S507N	ENSP00000329748:S519N	S	-	2	0	CPNE8	37334090	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.165000	0.77544	2.372000	0.80975	0.655000	0.94253	AGC		0.453	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		14	29	0	0	0	1	0	14	29				
OR5K2	402135	broad.mit.edu	37	3	98216966	98216966	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:98216966G>A	ENST00000427338.1	+	1	519	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GACCACAGGCGCCTTCATAGC	0.458																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(442-444)Gcc>Acc		olfactory receptor, family 5, subfamily K, member 2							153.0	154.0	153.0					3																	98216966		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216966G>A	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.442G>A	3.37:g.98216966G>A	ENSP00000393889:p.Ala148Thr					CLDND1_ENST00000502288.1_3'UTR	p.A148T	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	519	+			148					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.442G>A	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567707	0.13560	.	.	ENSG00000231861	ENST00000427338	T	0.37584	1.19	2.87	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.173908	0.27591	N	0.018683	T	0.20129	0.0484	N	0.25890	0.77	0.20196	N	0.999922	B	0.32188	0.359	B	0.30716	0.119	T	0.13124	-1.0521	10	0.27082	T	0.32	-5.6455	6.8118	0.23809	0.2516:0.0:0.7484:0.0	.	148	Q8NHB8	OR5K2_HUMAN	T	148	ENSP00000393889:A148T	ENSP00000393889:A148T	A	+	1	0	OR5K2	99699656	0.004000	0.15560	0.227000	0.23927	0.611000	0.37282	-0.232000	0.09055	0.268000	0.21939	0.298000	0.19748	GCC		0.458	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			8	81	0	0	0	1	0	8	81				
CHST13	166012	broad.mit.edu	37	3	126260949	126260949	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126260949G>A	ENST00000319340.2	+	3	604	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	185					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TCGGCTTACCGCAACAAGCTC	0.726																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(553-555)cGc>cAc		carbohydrate (chondroitin 4) sulfotransferase 13							9.0	10.0	10.0					3																	126260949		2132	4156	6288	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260949G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.554G>A	3.37:g.126260949G>A	ENSP00000317404:p.Arg185His						p.R185H	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	604	+			185					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.554G>A	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933322	0.73442	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.75477	-0.94	4.73	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88758	0.3255	10	0.87932	D	0	-31.671	11.8029	0.52137	0.0:0.0:0.8229:0.1771	.	185	Q8NET6	CHSTD_HUMAN	H	185	ENSP00000317404:R185H	ENSP00000317404:R185H	R	+	2	0	CHST13	127743639	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.572000	0.82409	0.934000	0.37316	0.491000	0.48974	CGC		0.726	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		10	13	0	0	0	1	0	10	13				
FUT2	2524	broad.mit.edu	37	19	49206450	49206450	+	Silent	SNP	C	C	T	rs368563249		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49206450C>T	ENST00000425340.2	+	2	354	c.237C>T	c.(235-237)taC>taT	p.Y79Y	FUT2_ENST00000391876.4_Silent_p.Y79Y	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	79					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGGGCGAGTACGCCACACTGT	0.632																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(235-237)taC>taT		fucosyltransferase 2 (secretor status included)		C	,	0,4406		0,0,2203	53.0	49.0	51.0		237,237	-1.9	1.0	19		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FUT2	NM_000511.5,NM_001097638.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	79/344,79/344	49206450	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206450C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.237C>T	19.37:g.49206450C>T						FUT2_ENST00000391876.4_Silent_p.Y79Y	p.Y79Y	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	354	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	79					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.237C>T	CCDS33069.1																																																																																				0.632	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		5	9	0	0	0	1	0	5	9				
ZMYM4	9202	broad.mit.edu	37	1	35851753	35851753	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35851753G>A	ENST00000314607.6	+	11	1879	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	600					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAGTATACGCAACTTCTGC	0.428																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1798-1800)cGc>cAc		zinc finger, MYM-type 4							168.0	152.0	157.0					1																	35851753		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35851753G>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1799G>A	1.37:g.35851753G>A	ENSP00000322915:p.Arg600His					ZMYM4_ENST00000373297.2_Intron	p.R600H	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			11	1879	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	600					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1799G>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559408	0.65538	.	.	ENSG00000146463	ENST00000314607	T	0.31247	1.5	5.78	5.78	0.91487	TRASH (1);	0.113873	0.64402	D	0.000014	T	0.25791	0.0628	L	0.37850	1.14	0.80722	D	1	P	0.47677	0.899	B	0.37833	0.259	T	0.02751	-1.1115	10	0.18276	T	0.48	-6.6897	20.0029	0.97425	0.0:0.0:1.0:0.0	.	600	Q5VZL5	ZMYM4_HUMAN	H	600	ENSP00000322915:R600H	ENSP00000322915:R600H	R	+	2	0	ZMYM4	35624340	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.402000	0.73260	2.735000	0.93741	0.436000	0.28706	CGC		0.428	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		28	41	0	0	0	1	0	28	41				
GALNT3	2591	broad.mit.edu	37	2	166611458	166611458	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166611458G>T	ENST00000392701.3	-	8	2283	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	GALNT3_ENST00000409882.1_Missense_Mutation_p.P241H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	503					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGATATAACAGGATTAAGGTC	0.333																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1507-1509)cCt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							80.0	78.0	79.0					2																	166611458		2203	4298	6501	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611458G>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1508C>A	2.37:g.166611458G>T	ENSP00000376465:p.Pro503His					GALNT3_ENST00000409882.1_Missense_Mutation_p.P241H	p.P503H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			8	2283	-			503					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1508C>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646115	0.67358	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.78595	-1.19;-1.19	5.56	5.56	0.83823	Ricin B-related lectin (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	M	0.85099	2.735	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	D	0.88163	0.2859	10	0.41790	T	0.15	.	19.5169	0.95169	0.0:0.0:1.0:0.0	.	503	Q14435	GALT3_HUMAN	H	503;241	ENSP00000376465:P503H;ENSP00000386955:P241H	ENSP00000376465:P503H	P	-	2	0	GALNT3	166319704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.708000	0.84633	2.631000	0.89168	0.655000	0.94253	CCT		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		9	41	1	0	0.00829132	1	0.00837884	9	41				
CLCNKB	1188	broad.mit.edu	37	1	16376334	16376334	+	Silent	SNP	C	C	T	rs565165729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16376334C>T	ENST00000375679.4	+	10	1002	c.891C>T	c.(889-891)agC>agT	p.S297S	CLCNKB_ENST00000375667.3_Silent_p.S128S	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	297					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGGCAGCGCTTACCTCT	0.612																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM004242	CLCNKB	M		c.(889-891)agC>agT		chloride channel, voltage-sensitive Kb							189.0	174.0	179.0					1																	16376334		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16376334C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.891C>T	1.37:g.16376334C>T						CLCNKB_ENST00000375667.3_Silent_p.S128S	p.S297S	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	10	1002	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.891C>T	CCDS168.1																																																																																				0.612	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		65	114	0	0	0	1	0	65	114				
GGA2	23062	broad.mit.edu	37	16	23497419	23497419	+	Nonsense_Mutation	SNP	G	G	A	rs370781819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23497419G>A	ENST00000309859.4	-	8	797	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	239	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACATGGCTTCGCACTTCCTCC	0.572																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(715-717)Cga>Tga		golgi-associated, gamma adaptin ear containing, ARF binding protein 2		G	stop/ARG	0,4394		0,0,2197	158.0	113.0	128.0		715	6.1	0.9	16		128	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GGA2	NM_015044.4		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		239/614	23497419	1,12993	2197	4300	6497	SO:0001587	stop_gained	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23497419G>A	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.715C>T	16.37:g.23497419G>A	ENSP00000311962:p.Arg239*					GGA2_ENST00000567468.1_Intron	p.R239*	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	8	797	-			239			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Nonsense_Mutation	SNP	ENST00000309859.4	37	c.715C>T	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852144	0.91355	0.0	1.16E-4	ENSG00000103365	ENST00000309859	.	.	.	6.07	6.07	0.98685	.	0.474118	0.23960	N	0.042864	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-19.5865	13.0047	0.58696	0.0:0.0:0.8389:0.1611	.	.	.	.	X	239	.	ENSP00000311962:R239X	R	-	1	2	GGA2	23404920	0.018000	0.18449	0.925000	0.36789	0.989000	0.77384	1.624000	0.37018	2.884000	0.98904	0.655000	0.94253	CGA		0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			45	42	0	0	0	1	0	45	42				
GPS2	2874	broad.mit.edu	37	17	7216788	7216788	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7216788G>A	ENST00000380728.2	-	8	935	c.635C>T	c.(634-636)gCt>gTt	p.A212V	GPS2_ENST00000389167.5_Splice_Site_p.A212V|GPS2_ENST00000391950.3_Splice_Site_p.A212V|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	212					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGCCGAAGGAGCTGAGAAAGG	0.502											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.e8-1		G protein pathway suppressor 2							80.0	82.0	82.0					17																	7216788		2203	4300	6503	SO:0001630	splice_region_variant	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216788G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.635-1C>T	17.37:g.7216788G>A			OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000389167.5_Splice_Site_p.A212_splice|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Splice_Site_p.A212_splice	p.A212_splice			Q13227	GPS2_HUMAN			8	935	-		Prostate(122;0.157)	212					B4DXA1|Q6FHM8	Splice_Site	SNP	ENST00000380728.2	37	c.634_splice	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465463	0.63513	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.48836	0.8;0.8	4.86	4.86	0.63082	.	0.071416	0.53938	U	0.000050	T	0.33990	0.0882	N	0.14661	0.345	0.34765	D	0.733081	P	0.46512	0.879	B	0.42916	0.402	T	0.52734	-0.8536	10	0.62326	D	0.03	.	13.2783	0.60200	0.0:0.1603:0.8397:0.0	.	212	Q13227	GPS2_HUMAN	V	212	ENSP00000370104:A212V;ENSP00000379841:A212V	ENSP00000319371:A212V	A	-	2	0	GPS2	7157512	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	4.039000	0.57325	2.518000	0.84900	0.655000	0.94253	GCT		0.502	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	Missense_Mutation	19	24	0	0	0	1	0	19	24				
MUL1	79594	broad.mit.edu	37	1	20827309	20827309	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20827309G>T	ENST00000264198.3	-	4	1069	c.933C>A	c.(931-933)tcC>tcA	p.S311S		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GAAAGACGCAGGACTTGAAGC	0.597																																						ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(931-933)tcC>tcA		mitochondrial E3 ubiquitin protein ligase 1							90.0	76.0	81.0					1																	20827309		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827309G>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.933C>A	1.37:g.20827309G>T							p.S311S	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	1069	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	311					B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.933C>A	CCDS208.1																																																																																				0.597	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	13	1	0	2.17888e-05	1	2.24846e-05	8	13				
HAS1	3036	broad.mit.edu	37	19	52219536	52219536	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52219536C>T	ENST00000222115.1	-	4	1068	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	HAS1_ENST00000594621.1_Intron|HAS1_ENST00000540069.2_Missense_Mutation_p.R344H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	345					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R345H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGAGCATGCGGTTGGTGAG	0.522																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			1	Substitution - Missense(1)	p.R345H(1)	kidney(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1030-1032)cGc>cAc		hyaluronan synthase 1							106.0	97.0	100.0					19																	52219536		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219536C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1034G>A	19.37:g.52219536C>T	ENSP00000222115:p.Arg345His					HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron|HAS1_ENST00000222115.1_Missense_Mutation_p.R345H	p.R344H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	1091	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	345					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1031G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.002682	0.74932	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.69040	-0.37;-0.37	3.35	3.35	0.38373	.	0.073864	0.56097	U	0.000031	D	0.82852	0.5127	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.927;0.971;0.971	D	0.86306	0.1683	10	0.66056	D	0.02	-17.0936	12.592	0.56447	0.0:1.0:0.0:0.0	.	344;345;344	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	344;345	ENSP00000445021:R344H;ENSP00000222115:R345H	ENSP00000222115:R345H	R	-	2	0	HAS1	56911348	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.614000	0.82996	1.608000	0.50180	0.165000	0.16767	CGC		0.522	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		31	37	0	0	0	1	0	31	37				
OLA1	29789	broad.mit.edu	37	2	174945974	174945974	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:174945974G>T	ENST00000409546.1	-	9	1562	c.932C>A	c.(931-933)gCt>gAt	p.A311D	OLA1_ENST00000344357.5_Missense_Mutation_p.A133D|OLA1_ENST00000284719.3_Missense_Mutation_p.A291D|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTTTGGCAAAGCACTGAAATC	0.388																																						ENST00000284719.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(871-873)gCt>gAt		Obg-like ATPase 1							65.0	57.0	60.0					2																	174945974		2203	4299	6502	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174945974G>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.932C>A	2.37:g.174945974G>T	ENSP00000386350:p.Ala311Asp					OLA1_ENST00000344357.5_Missense_Mutation_p.A133D|OLA1_ENST00000409546.1_Missense_Mutation_p.A311D|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR	p.A291D	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN			9	1118	-			291						Missense_Mutation	SNP	ENST00000409546.1	37	c.872C>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.587643	0.28268	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.16597	2.33;2.33;2.33	5.96	5.96	0.96718	Beta-grasp fold, ferredoxin-type (1);	0.204794	0.47093	D	0.000254	T	0.55893	0.1949	H	0.98027	4.13	0.58432	D	0.999999	P;P;P	0.50528	0.708;0.936;0.708	B;P;B	0.62435	0.319;0.902;0.319	T	0.70048	-0.4979	10	0.72032	D	0.01	.	13.5822	0.61909	0.0707:0.0:0.9293:0.0	.	291;133;291	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	D	291;133;311	ENSP00000284719:A291D;ENSP00000340167:A133D;ENSP00000386350:A311D	ENSP00000284719:A291D	A	-	2	0	OLA1	174654220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.634000	0.61325	2.826000	0.97356	0.655000	0.94253	GCT		0.388	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		31	42	1	0	1.08312e-15	1	1.18619e-15	31	42				
ARVCF	421	broad.mit.edu	37	22	19966463	19966463	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19966463C>T	ENST00000263207.3	-	7	1828	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	ARVCF_ENST00000401994.1_Missense_Mutation_p.A450T|ARVCF_ENST00000344269.3_Missense_Mutation_p.A450T|ARVCF_ENST00000406522.1_Missense_Mutation_p.A450T|ARVCF_ENST00000406259.1_Missense_Mutation_p.A513T|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	513					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GTCCACTCGGCGTCCCGTGGC	0.622																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1537-1539)Gcc>Acc		armadillo repeat gene deleted in velocardiofacial syndrome							155.0	104.0	121.0					22																	19966463		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19966463C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1537G>A	22.37:g.19966463C>T	ENSP00000263207:p.Ala513Thr					ARVCF_ENST00000344269.3_Missense_Mutation_p.A450T|ARVCF_ENST00000406522.1_Missense_Mutation_p.A450T|ARVCF_ENST00000406259.1_Missense_Mutation_p.A513T|ARVCF_ENST00000401994.1_Missense_Mutation_p.A450T	p.A513T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			7	1828	-	Colorectal(54;0.0993)		513					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1537G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941257	0.73557	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.43	4.43	0.53597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.71656	0.707;0.974	T	0.77019	-0.2743	9	.	.	.	-5.8494	17.6161	0.88068	0.0:1.0:0.0:0.0	.	513;35	O00192;E7EV58	ARVC_HUMAN;.	T	513;450;450;450;513	ENSP00000263207:A513T;ENSP00000342042:A450T;ENSP00000384341:A450T;ENSP00000384732:A450T;ENSP00000385444:A513T	.	A	-	1	0	ARVCF	18346463	0.990000	0.36364	0.911000	0.35937	0.510000	0.34073	2.964000	0.49192	2.472000	0.83506	0.563000	0.77884	GCC		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		8	21	0	0	0	1	0	8	21				
ANGEL1	23357	broad.mit.edu	37	14	77256966	77256966	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77256966C>T	ENST00000251089.2	-	9	1952	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	ANGEL1_ENST00000557179.1_Missense_Mutation_p.G179R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	614										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTTCTGTTCCCATTCTCACAG	0.537																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1840-1842)Ggg>Agg		angel homolog 1 (Drosophila)							125.0	106.0	112.0					14																	77256966		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77256966C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1840G>A	14.37:g.77256966C>T	ENSP00000251089:p.Gly614Arg					ANGEL1_ENST00000557179.1_Missense_Mutation_p.G179R	p.G614R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	9	1952	-			614					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1840G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034491	0.19590	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.80304	1.59;-1.36	5.76	3.0	0.34707	Endonuclease/exonuclease/phosphatase (2);	0.764529	0.13117	N	0.412482	T	0.74099	0.3672	L	0.56769	1.78	0.34233	D	0.676795	B	0.06786	0.001	B	0.15870	0.014	T	0.67245	-0.5719	10	0.18276	T	0.48	-1.9686	8.7057	0.34354	0.0:0.6993:0.0:0.3007	.	614	Q9UNK9	ANGE1_HUMAN	R	614;179	ENSP00000251089:G614R;ENSP00000451534:G179R	ENSP00000251089:G614R	G	-	1	0	ANGEL1	76326719	0.560000	0.26570	0.994000	0.49952	0.215000	0.24574	0.420000	0.21263	0.394000	0.25230	0.555000	0.69702	GGG		0.537	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		23	31	0	0	0	1	0	23	31				
POLE	5426	broad.mit.edu	37	12	133219878	133219878	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133219878C>T	ENST00000320574.5	-	35	4526	c.4483G>A	c.(4483-4485)Gcc>Acc	p.A1495T	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.A1468T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1495					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCTTTGTGGGCCTGTGCGTGG	0.592								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4483-4485)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							140.0	123.0	129.0					12																	133219878		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219878C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4483G>A	12.37:g.133219878C>T	ENSP00000322570:p.Ala1495Thr					POLE_ENST00000535270.1_Missense_Mutation_p.A1468T	p.A1495T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	35	4526	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1495					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4483G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540694	0.65085	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02709	4.2;4.19;4.19	5.96	5.96	0.96718	.	0.086833	0.85682	D	0.000000	T	0.03095	0.0091	N	0.14661	0.345	0.41717	D	0.989485	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.59542	-0.7435	10	0.35671	T	0.21	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	1468;1495	F5H1D6;Q07864	.;DPOE1_HUMAN	T	1495;1506;1468	ENSP00000322570:A1495T;ENSP00000406383:A1506T;ENSP00000445753:A1468T	ENSP00000322570:A1495T	A	-	1	0	POLE	131729951	1.000000	0.71417	0.995000	0.50966	0.242000	0.25591	6.014000	0.70784	2.813000	0.96785	0.655000	0.94253	GCC		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	27	0	0	0	1	0	13	27				
OR56A3	390083	broad.mit.edu	37	11	5968893	5968893	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5968893A>G	ENST00000329564.6	+	1	324	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAGATGTACATCATGAAT	0.507																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(316-318)tAc>tGc		olfactory receptor, family 56, subfamily A, member 3							165.0	157.0	159.0					11																	5968893		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968893A>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.317A>G	11.37:g.5968893A>G	ENSP00000331572:p.Tyr106Cys						p.Y106C	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	324	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	106					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.317A>G	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232429	0.39498	.	.	ENSG00000184478	ENST00000329564	T	0.03301	3.98	5.13	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	0.749345	0.10257	U	0.696460	T	0.09905	0.0243	M	0.76727	2.345	0.25178	N	0.990229	P	0.50272	0.933	P	0.51266	0.664	T	0.43015	-0.9417	10	0.87932	D	0	-6.6498	19.8391	0.96675	0.1582:0.0:0.0:0.8418	.	106	Q8NH54	O56A3_HUMAN	C	106	ENSP00000331572:Y106C	ENSP00000331572:Y106C	Y	+	2	0	OR56A3	5925469	0.000000	0.05858	0.379000	0.26080	0.553000	0.35397	-3.281000	0.00528	-2.455000	0.00540	-1.731000	0.00696	TAC		0.507	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		5	144	0	0	0	1	0	5	144				
NXN	64359	broad.mit.edu	37	17	704209	704209	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:704209G>A	ENST00000336868.3	-	8	1379	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	NXN_ENST00000538650.1_Missense_Mutation_p.L121F|NXN_ENST00000575801.1_Missense_Mutation_p.L322F|NXN_ENST00000537628.2_Missense_Mutation_p.L181F	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	430					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGGTTTGAGCTTCTCTGCT	0.577																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1288-1290)Ctc>Ttc		nucleoredoxin							50.0	49.0	49.0					17																	704209		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704209G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1288C>T	17.37:g.704209G>A	ENSP00000337443:p.Leu430Phe					NXN_ENST00000538650.1_Missense_Mutation_p.L121F|NXN_ENST00000537628.2_Missense_Mutation_p.L181F|NXN_ENST00000575801.1_Missense_Mutation_p.L322F	p.L430F	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1379	-			430					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.1288C>T	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036968	0.93630	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.18338	2.22;2.22	5.99	5.99	0.97316	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.995;0.997;0.999	D;D;D	0.80764	0.969;0.986;0.994	T	0.01583	-1.1319	10	0.72032	D	0.01	-25.3824	19.0415	0.93002	0.0:0.0:1.0:0.0	.	322;121;430	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	F	430;121;322	ENSP00000337443:L430F;ENSP00000445087:L121F	ENSP00000337443:L430F	L	-	1	0	NXN	650959	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.837000	0.99465	2.840000	0.97914	0.655000	0.94253	CTC		0.577	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			8	15	0	0	0	1	0	8	15				
PADI6	353238	broad.mit.edu	37	1	17701957	17701957	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:17701957C>T	ENST00000434762.2	+	0	380							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACGAGGATGCCCCCGTGGGCA	0.622																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						49.0	50.0	50.0					1																	17701957		2064	4204	6268			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17701957C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17701957C>T										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	380	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.622	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	8	0	0	0	1	0	4	8				
NR3C2	4306	broad.mit.edu	37	4	149356756	149356756	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:149356756C>T	ENST00000358102.3	-	2	1619	c.1257G>A	c.(1255-1257)tcG>tcA	p.S419S	NR3C2_ENST00000512865.1_Silent_p.S419S|NR3C2_ENST00000344721.4_Silent_p.S419S|NR3C2_ENST00000511528.1_Silent_p.S419S|NR3C2_ENST00000355292.3_Silent_p.S419S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	419	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGAAGAATCCGAATTTATTT	0.393																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1255-1257)tcG>tcA		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						84.0	87.0	86.0					4																	149356756		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356756C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1257G>A	4.37:g.149356756C>T						NR3C2_ENST00000511528.1_Silent_p.S419S|NR3C2_ENST00000344721.4_Silent_p.S419S|NR3C2_ENST00000512865.1_Silent_p.S419S|NR3C2_ENST00000358102.3_Silent_p.S419S|NR3C2_ENST00000342437.4_Silent_p.S419S	p.S419S			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1619	-	all_hematologic(180;0.151)		419			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.1257G>A	CCDS3772.1																																																																																				0.393	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			18	41	0	0	0	1	0	18	41				
MGAT3	4248	broad.mit.edu	37	22	39884916	39884916	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39884916C>T	ENST00000341184.6	+	2	1779	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	522					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGGGAAGGCCGCCCGCCCG	0.677																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1564-1566)Ccg>Tcg		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							14.0	18.0	17.0					22																	39884916		2150	4217	6367	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884916C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1564C>T	22.37:g.39884916C>T	ENSP00000345270:p.Pro522Ser						p.P522S	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1779	+	Melanoma(58;0.04)		522					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1564C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037361	0.08148	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.11	-2.96	0.05547	.	1.765770	0.03385	N	0.200889	T	0.11836	0.0288	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	9	0.02654	T	1	.	1.7443	0.02958	0.1121:0.29:0.2204:0.3775	.	522	Q09327	MGAT3_HUMAN	S	522	.	ENSP00000345270:P522S	P	+	1	0	MGAT3	38214862	0.002000	0.14202	0.007000	0.13788	0.008000	0.06430	-0.509000	0.06336	-0.216000	0.10048	-0.133000	0.14855	CCG		0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		8	5	0	0	0	1	0	8	5				
ISPD	729920	broad.mit.edu	37	7	16255713	16255713	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:16255713C>T	ENST00000407010.2	-	9	1228	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E	ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000579293.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.G360E|ISPD-AS1_ENST00000457112.1_RNA|ISPD-AS1_ENST00000438573.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	410					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TATGAGAAGCCCATATAACAA	0.323										Multiple Myeloma(15;0.18)																												ENST00000407010.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1228-1230)gGg>gAg		isoprenoid synthase domain containing							85.0	85.0	85.0					7																	16255713		1796	4057	5853	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16255713C>T	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1229G>A	7.37:g.16255713C>T	ENSP00000385478:p.Gly410Glu	Multiple Myeloma(15;0.18)				AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000457112.1_RNA|AC004741.3_ENST00000582683.1_RNA|AC004741.3_ENST00000579293.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.G360E	p.G410E	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN			9	1228	-			410					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.1229G>A		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541537	0.65085	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.92249	-2.77;-3.0	5.07	5.07	0.68467	.	.	.	.	.	D	0.92509	0.7621	N	0.24115	0.695	0.47819	D	0.999523	D	0.89917	1.0	D	0.77557	0.99	D	0.93455	0.6805	9	0.87932	D	0	-16.6249	14.293	0.66292	0.0:1.0:0.0:0.0	.	410	A4D126	ISPD_HUMAN	E	410;360	ENSP00000385478:G410E;ENSP00000382249:G360E	ENSP00000382249:G360E	G	-	2	0	ISPD	16222238	0.751000	0.28327	0.160000	0.22671	0.893000	0.52053	3.810000	0.55613	2.514000	0.84764	0.650000	0.86243	GGG		0.323	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		8	30	0	0	0	1	0	8	30				
GOLGA3	2802	broad.mit.edu	37	12	133384773	133384773	+	Silent	SNP	G	G	A	rs143511800	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133384773G>A	ENST00000450791.2	-	4	1065	c.882C>T	c.(880-882)gaC>gaT	p.D294D	GOLGA3_ENST00000537452.1_Silent_p.D294D|GOLGA3_ENST00000456883.2_Silent_p.D294D|GOLGA3_ENST00000204726.3_Silent_p.D294D|GOLGA3_ENST00000545875.1_Silent_p.D294D			Q08378	GOGA3_HUMAN	golgin A3	294					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCAGACGGTCGTCAGTGTCGG	0.597																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(880-882)gaC>gaT		golgin A3		A	,	0,4406		0,0,2203	114.0	113.0	113.0		882,882	-10.6	0.0	12	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GOLGA3	NM_001172557.1,NM_005895.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	294/1135,294/1499	133384773	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384773G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.882C>T	12.37:g.133384773G>A						GOLGA3_ENST00000456883.2_Silent_p.D294D|GOLGA3_ENST00000450791.2_Silent_p.D294D|GOLGA3_ENST00000545875.1_Silent_p.D294D|GOLGA3_ENST00000537452.1_Silent_p.D294D	p.D294D	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1440	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	294					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.882C>T	CCDS9281.1																																																																																				0.597	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		39	52	0	0	0	1	0	39	52				
ANKS4B	257629	broad.mit.edu	37	16	21261858	21261858	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21261858G>A	ENST00000311620.5	+	2	1044	c.971G>A	c.(970-972)gGc>gAc	p.G324D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	324					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GAGGAAAACGGCCTCAAAGAT	0.517																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(970-972)gGc>gAc		ankyrin repeat and sterile alpha motif domain containing 4B							159.0	172.0	168.0					16																	21261858		2095	4229	6324	SO:0001583	missense	257629							g.chr16:21261858G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.971G>A	16.37:g.21261858G>A	ENSP00000308772:p.Gly324Asp						p.G324D	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1044	+			324						Missense_Mutation	SNP	ENST00000311620.5	37	c.971G>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	1.813	-0.474202	0.04414	.	.	ENSG00000175311	ENST00000311620	T	0.42131	0.98	5.25	-2.7	0.06004	.	1.678020	0.02806	N	0.123754	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14504	-1.0470	10	0.15066	T	0.55	0.4427	7.3373	0.26617	0.502:0.1159:0.3822:0.0	.	324	Q8N8V4	ANS4B_HUMAN	D	324	ENSP00000308772:G324D	ENSP00000308772:G324D	G	+	2	0	ANKS4B	21169359	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.335000	0.19806	-0.259000	0.09432	0.650000	0.86243	GGC		0.517	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		8	15	0	0	0	1	0	8	15				
FLVCR2	55640	broad.mit.edu	37	14	76107352	76107352	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76107352G>A	ENST00000238667.4	+	7	1646	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.T225T|FLVCR2_ENST00000555027.1_Silent_p.T145T|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	430			T -> M (in PVHH). {ECO:0000269|PubMed:20690116}.|T -> R (in PVHH). {ECO:0000269|PubMed:20206334}.		heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGAGCTCACGTACCCAGAAT	0.498																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1288-1290)acG>acA		feline leukemia virus subgroup C cellular receptor family, member 2							137.0	122.0	127.0					14																	76107352		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107352G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1290G>A	14.37:g.76107352G>A						FLVCR2_ENST00000555027.1_Silent_p.T145T|FLVCR2_ENST00000539311.1_Silent_p.T225T|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	p.T430T	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1646	+			430		T -> M (in PVHH).|T -> R (in PVHH).			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1290G>A	CCDS9844.1																																																																																				0.498	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		7	58	0	0	0	1	0	7	58				
ATG16L1	55054	broad.mit.edu	37	2	234173549	234173549	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234173549G>A	ENST00000392017.4	+	5	658	c.401G>A	c.(400-402)tGt>tAt	p.C134Y	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.C134Y|ATG16L1_ENST00000392018.1_Missense_Mutation_p.C134Y	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	134					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTGCAGAATGTTTGCAGACT	0.507																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(400-402)tGt>tAt		autophagy related 16-like 1 (S. cerevisiae)							105.0	93.0	97.0					2																	234173549		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234173549G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.401G>A	2.37:g.234173549G>A	ENSP00000375872:p.Cys134Tyr					ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.C134Y|ATG16L1_ENST00000392020.4_Missense_Mutation_p.C134Y|ATG16L1_ENST00000347464.5_Intron	p.C134Y	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	5	658	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	134					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.401G>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	2.763	-0.257525	0.05791	.	.	ENSG00000085978	ENST00000431917;ENST00000392017;ENST00000392020;ENST00000392018	T;T;T	0.44482	0.93;0.94;0.92	5.9	2.06	0.26882	Autophagy-related protein 16 (1);	2.178880	0.01898	N	0.039006	T	0.13072	0.0317	N	0.00408	-1.53	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.54964	-0.8214	10	0.02654	T	1	.	7.1739	0.25734	0.4742:0.0:0.5258:0.0	.	107;134;134	B7ZLM5;Q676U5-2;Q676U5	.;.;A16L1_HUMAN	Y	50;134;134;134	ENSP00000375872:C134Y;ENSP00000375875:C134Y;ENSP00000375873:C134Y	ENSP00000375872:C134Y	C	+	2	0	ATG16L1	233838288	0.996000	0.38824	0.709000	0.30452	0.950000	0.60333	2.685000	0.46959	0.818000	0.34468	0.563000	0.77884	TGT		0.507	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		36	44	0	0	0	1	0	36	44				
BCR	613	broad.mit.edu	37	22	23596133	23596133	+	Missense_Mutation	SNP	C	C	T	rs371224222		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23596133C>T	ENST00000305877.8	+	2	2178	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	BCR_ENST00000359540.3_Missense_Mutation_p.A476V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	476					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AGCCGGGATGCGCTGGTCTCG	0.667			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.0					ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1426-1428)gCg>gTg		breakpoint cluster region		C	VAL/ALA,VAL/ALA	2,4392		0,2,2195	30.0	23.0	25.0		1427,1427	2.9	0.0	22		25	0,8580		0,0,4290	no	missense,missense	BCR	NM_021574.2,NM_004327.3	64,64	0,2,6485	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	476/1228,476/1272	23596133	2,12972	2197	4290	6487	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23596133C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1427C>T	22.37:g.23596133C>T	ENSP00000303507:p.Ala476Val					BCR_ENST00000359540.3_Missense_Mutation_p.A476V	p.A476V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			2	2178	+			476					P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.1427C>T	CCDS13806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353893|2.353893	0.41700|0.41700	4.55E-4|4.55E-4	0.0|0.0	ENSG00000186716|ENSG00000186716	ENST00000305877;ENST00000359540|ENST00000334149	T;T|.	0.26660|.	1.72;1.72|.	5.0|5.0	2.87|2.87	0.33458|0.33458	Dbl homology (DH) domain (1);|.	0.286641|.	0.31963|.	N|.	0.006781|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999986|0.999986	B;B;B|.	0.34200|.	0.152;0.441;0.313|.	B;B;B|.	0.31101|.	0.022;0.124;0.036|.	T|T	0.41574|0.41574	-0.9501|-0.9501	10|6	0.40728|0.56958	T|D	0.16|0.05	.|.	11.0205|11.0205	0.47715|0.47715	0.0:0.834:0.0:0.166|0.0:0.834:0.0:0.166	.|.	65;476;476|.	B4E065;P11274-2;P11274|.	.;.;BCR_HUMAN|.	V|C	476|141	ENSP00000303507:A476V;ENSP00000352535:A476V|.	ENSP00000303507:A476V|ENSP00000335450:R141C	A|R	+|+	2|1	0|0	BCR|BCR	21926133|21926133	0.323000|0.323000	0.24643|0.24643	0.002000|0.002000	0.10522|0.10522	0.314000|0.314000	0.28054|0.28054	3.948000|3.948000	0.56660|0.56660	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.667	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		7	9	0	0	0	1	0	7	9				
TMEM62	80021	broad.mit.edu	37	15	43444000	43444000	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43444000T>C	ENST00000260403.2	+	8	1158	c.879T>C	c.(877-879)ttT>ttC	p.F293F		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	293						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ACCGGATTTTTGCTTTTGATC	0.358																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(877-879)ttT>ttC		transmembrane protein 62							213.0	193.0	200.0					15																	43444000		2203	4299	6502	SO:0001819	synonymous_variant	80021					integral to membrane		g.chr15:43444000T>C	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.879T>C	15.37:g.43444000T>C							p.F293F	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1158	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	293					Q6I9Y5|Q9H5J6	Silent	SNP	ENST00000260403.2	37	c.879T>C	CCDS32210.1																																																																																				0.358	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		51	67	0	0	0	1	0	51	67				
AKAP14	158798	broad.mit.edu	37	X	119048759	119048759	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119048759G>A	ENST00000371431.3	+	5	633	c.359G>A	c.(358-360)aGt>aAt	p.S120N	AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	120					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GTACACTGGAGTATCTCAACT	0.438																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(358-360)aGt>aAt		A kinase (PRKA) anchor protein 14							232.0	188.0	203.0					X																	119048759		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119048759G>A	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.359G>A	X.37:g.119048759G>A	ENSP00000360485:p.Ser120Asn					AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	p.S120N	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			5	633	+			120					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.359G>A	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713500	0.48517	.	.	ENSG00000186471	ENST00000371431	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80679	-0.1275	9	0.66056	D	0.02	-19.5371	13.8613	0.63561	0.0:0.0:1.0:0.0	.	120	Q86UN6	AKA28_HUMAN	N	120	.	ENSP00000360485:S120N	S	+	2	0	AKAP14	118932787	1.000000	0.71417	0.907000	0.35723	0.015000	0.08874	4.589000	0.61006	2.093000	0.63338	0.600000	0.82982	AGT		0.438	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		4	79	0	0	0	1	0	4	79				
EIF3M	10480	broad.mit.edu	37	11	32610621	32610621	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32610621C>T	ENST00000531120.1	+	4	441	c.378C>T	c.(376-378)agC>agT	p.S126S	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGTATTGCAGCCTTATTAAAG	0.398																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(376-378)agC>agT		eukaryotic translation initiation factor 3, subunit M							118.0	104.0	108.0					11																	32610621		2202	4299	6501	SO:0001819	synonymous_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610621C>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.378C>T	11.37:g.32610621C>T						EIF3M_ENST00000524896.1_Intron	p.S126S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			4	441	+	Breast(20;0.109)		126						Silent	SNP	ENST00000531120.1	37	c.378C>T	CCDS7880.1																																																																																				0.398	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		33	48	0	0	0	1	0	33	48				
ATP2C2	9914	broad.mit.edu	37	16	84456040	84456040	+	Silent	SNP	C	C	T	rs372288677		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84456040C>T	ENST00000262429.4	+	8	758	c.669C>T	c.(667-669)gcC>gcT	p.A223A	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.A223A	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	223					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGGGGAAGCCGAGCCATGTA	0.572																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(667-669)gcC>gcT		ATPase, Ca++ transporting, type 2C, member 2		C		0,3940		0,0,1970	84.0	89.0	88.0		669	-10.1	0.0	16		88	7,8305		0,7,4149	no	coding-synonymous	ATP2C2	NM_014861.2		0,7,6119	TT,TC,CC		0.0842,0.0,0.0571		223/947	84456040	7,12245	1970	4156	6126	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84456040C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.669C>T	16.37:g.84456040C>T						ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.A223A	p.A223A			O75185	AT2C2_HUMAN			8	758	+			223					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.669C>T	CCDS42207.1																																																																																				0.572	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		19	29	0	0	0	1	0	19	29				
CFAP61	26074	broad.mit.edu	37	20	20071554	20071554	+	Silent	SNP	C	C	T	rs144410560	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20071554C>T	ENST00000245957.5	+	7	709	c.633C>T	c.(631-633)taC>taT	p.Y211Y	C20orf26_ENST00000451767.2_Silent_p.Y211Y|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.Y211Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		211										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGAAACTTACGGTGAATACT	0.433																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(631-633)taC>taT		chromosome 20 open reading frame 26		C	,	0,4406		0,0,2203	200.0	184.0	189.0		633,633	-8.3	0.0	20	dbSNP_134	189	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	211/471,211/1238	20071554	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20071554C>T																												ENST00000245957.5:c.633C>T	20.37:g.20071554C>T						C20orf26_ENST00000377306.1_Silent_p.Y211Y|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.Y211Y|C20orf26_ENST00000389656.3_5'UTR	p.Y211Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	709	+			211					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.633C>T	CCDS33447.1																																																																																				0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			55	83	0	0	0	1	0	55	83				
FRMD4A	55691	broad.mit.edu	37	10	13838573	13838573	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:13838573C>A	ENST00000357447.2	-	5	590	c.222G>T	c.(220-222)tgG>tgT	p.W74C	FRMD4A_ENST00000342409.2_Missense_Mutation_p.W90C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.W74C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.W59C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	74	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTAGCTGAAGCCAGTTTAAGT	0.403																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(220-222)tgG>tgT		FERM domain containing 4A							124.0	122.0	123.0					10																	13838573		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13838573C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.222G>T	10.37:g.13838573C>A	ENSP00000350032:p.Trp74Cys					FRMD4A_ENST00000358621.4_Missense_Mutation_p.W59C|FRMD4A_ENST00000342409.2_Missense_Mutation_p.W90C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.W74C	p.W74C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			5	590	-			74			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.222G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669555	0.67814	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	4.87	4.87	0.63330	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97852	1.0275	10	0.87932	D	0	-10.778	14.9407	0.70992	0.0:1.0:0.0:0.0	.	90;107;74	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	C	59;74;74;107;90	ENSP00000351438:W59C;ENSP00000350032:W74C;ENSP00000367764:W74C;ENSP00000264546:W107C;ENSP00000344237:W90C	ENSP00000264546:W107C	W	-	3	0	FRMD4A	13878579	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.725000	0.74752	2.244000	0.73946	0.462000	0.41574	TGG		0.403	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		14	71	1	0	1.05317e-09	1	1.12079e-09	14	71				
ERBB3	2065	broad.mit.edu	37	12	56493687	56493687	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56493687G>T	ENST00000267101.3	+	25	3443	c.3003G>T	c.(3001-3003)gaG>gaT	p.E1001D	ERBB3_ENST00000415288.2_Missense_Mutation_p.E942D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E242D|ERBB3_ENST00000450146.2_Missense_Mutation_p.E358D|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.E121D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1001					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAAGCTAGAGGAAGTAGAGC	0.557																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3001-3003)gaG>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							99.0	104.0	102.0					12																	56493687		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56493687G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3003G>T	12.37:g.56493687G>T	ENSP00000267101:p.Glu1001Asp					ERBB3_ENST00000549832.1_Missense_Mutation_p.E121D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E242D|ERBB3_ENST00000450146.2_Missense_Mutation_p.E358D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E942D	p.E1001D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		25	3443	+			1001					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3003G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	0.347	-0.947342	0.02304	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78126	-1.04;-0.92;-1.03;-1.15;-0.84	5.65	-1.52	0.08637	.	0.391329	0.25860	N	0.027829	T	0.45994	0.1370	N	0.08118	0	0.26419	N	0.976139	B;B;B	0.13145	0.004;0.007;0.001	B;B;B	0.12156	0.007;0.004;0.002	T	0.42396	-0.9454	10	0.02654	T	1	.	5.0561	0.14533	0.4731:0.0:0.3846:0.1424	.	942;121;1001	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	D	1001;358;942;124;242;121	ENSP00000267101:E1001D;ENSP00000399178:E358D;ENSP00000408340:E942D;ENSP00000449129:E242D;ENSP00000448729:E121D	ENSP00000267101:E1001D	E	+	3	2	ERBB3	54779954	0.998000	0.40836	0.964000	0.40570	0.303000	0.27691	0.181000	0.16880	-0.490000	0.06707	-0.768000	0.03414	GAG		0.557	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			11	35	1	0	0.0809354	1	0.0813244	11	35				
DLG4	1742	broad.mit.edu	37	17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7097030C>T	ENST00000399506.2	-	15	1738	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	DLG4_ENST00000399510.2_Missense_Mutation_p.R559Q|DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	516					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGAGTCTTCTCGACCTGGTGG	0.612																																						ENST00000399510.2																			1	Substitution - Missense(1)	p.R559Q(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1675-1677)cGa>cAa		discs, large homolog 4 (Drosophila)							64.0	73.0	70.0					17																	7097030		2007	4176	6183	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7097030C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1547G>A	17.37:g.7097030C>T	ENSP00000382425:p.Arg516Gln					DLG4_ENST00000399506.2_Missense_Mutation_p.R516Q|DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q	p.R559Q	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			17	2528	-			516			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1676G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.017973	0.35606	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	D;D;D	0.82167	-1.58;-1.58;-1.58	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.80549	0.4644	N	0.16368	0.405	0.52099	D	0.999943	B;B;B;D	0.71674	0.003;0.003;0.092;0.998	B;B;B;D	0.79784	0.006;0.006;0.042;0.993	T	0.74312	-0.3706	9	0.12103	T	0.63	.	9.6178	0.39704	0.0:0.908:0.0:0.092	.	556;516;513;559	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	Q	516;513;559;559;456;559	ENSP00000382425:R516Q;ENSP00000307471:R513Q;ENSP00000382428:R559Q	ENSP00000293813:R559Q	R	-	2	0	DLG4	7037754	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.892000	0.28322	2.722000	0.93159	0.655000	0.94253	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		5	11	0	0	0	1	0	5	11				
GPHB5	122876	broad.mit.edu	37	14	63784459	63784459	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:63784459G>A	ENST00000539258.1	-	0	161							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				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)		TCACGGCACAGCCCACAAAGG	0.627																																						ENST00000539258.1																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7								glycoprotein hormone beta 5							43.0	46.0	45.0					14																	63784459		2003	4172	6175			122876					extracellular region	hormone activity	g.chr14:63784459G>A	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.63784459G>A										Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	0	161	-								Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.627	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		9	28	0	0	0	1	0	9	28				
ITGB4	3691	broad.mit.edu	37	17	73729577	73729577	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73729577C>T	ENST00000200181.3	+	13	1648	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.G487G|ITGB4_ENST00000579662.1_Silent_p.G487G|ITGB4_ENST00000449880.2_Silent_p.G487G|ITGB4_ENST00000450894.3_Silent_p.G487G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	487	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAGGAGTGGCCAGACCTGCA	0.547																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1459-1461)ggC>ggT		integrin, beta 4							35.0	32.0	33.0					17																	73729577		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729577C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1461C>T	17.37:g.73729577C>T						ITGB4_ENST00000579662.1_Silent_p.G487G|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.G487G|ITGB4_ENST00000339591.3_Silent_p.G487G|ITGB4_ENST00000449880.2_Silent_p.G487G	p.G487G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1648	+	all_cancers(13;1.5e-07)		487			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1461C>T	CCDS11727.1																																																																																				0.547	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			7	15	0	0	0	1	0	7	15				
LY75	4065	broad.mit.edu	37	2	160755563	160755563	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160755563G>T	ENST00000263636.4	-	2	129	c.102C>A	c.(100-102)gaC>gaA	p.D34E	LY75_ENST00000553424.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D34E|LY75_ENST00000554112.1_Missense_Mutation_p.D34E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	34	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGGTGAAGGGGTCATTAGCTG	0.493																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(100-102)gaC>gaA		lymphocyte antigen 75							154.0	150.0	151.0					2																	160755563		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160755563G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.102C>A	2.37:g.160755563G>T	ENSP00000263636:p.Asp34Glu					LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D34E|LY75_ENST00000554112.1_Missense_Mutation_p.D34E|LY75_ENST00000553424.1_Missense_Mutation_p.D34E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D34E	p.D34E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	2	129	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.102C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216585	0.39201	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	6.02	-1.17	0.09648	Ricin B-related lectin (1);Ricin B lectin (2);	0.729926	0.11202	N	0.588738	T	0.25531	0.0621	M	0.74258	2.255	0.27799	N	0.942565	B;P;P	0.47762	0.056;0.9;0.873	B;B;B	0.40602	0.045;0.334;0.291	T	0.19451	-1.0305	10	0.29301	T	0.29	-3.5499	1.6649	0.02799	0.5175:0.1271:0.2329:0.1226	.	34;34;34	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	E	34	ENSP00000451511:D34E;ENSP00000451446:D34E;ENSP00000263636:D34E;ENSP00000423463:D34E;ENSP00000421035:D34E	ENSP00000423463:D34E	D	-	3	2	LY75;LY75-CD302	160463809	0.398000	0.25279	0.979000	0.43373	0.657000	0.38888	0.414000	0.21164	-0.131000	0.11578	-0.302000	0.09304	GAC		0.493	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	83	1	0	4.16121e-05	1	4.27859e-05	20	83				
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(607-609)cGc>cAc		LIM domain kinase 2							150.0	142.0	145.0					22																	31658176		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658176G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.608G>A	22.37:g.31658176G>A	ENSP00000332687:p.Arg203His					LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H	p.R203H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			6	722	+			203			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.608G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449939	0.84101	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.49778	1.585	0.80722	D	1	P;D;P;D	0.71674	0.844;0.96;0.871;0.998	B;P;P;P	0.61328	0.407;0.716;0.542;0.887	T	0.46541	-0.9184	10	0.72032	D	0.01	-19.1698	18.4111	0.90550	0.0:0.0:1.0:0.0	.	235;182;203;125	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	H	125;203;235;182;182	ENSP00000384602:R125H;ENSP00000332687:R203H;ENSP00000330470:R182H;ENSP00000339916:R182H	ENSP00000332687:R203H	R	+	2	0	LIMK2	29988176	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.632000	0.83247	2.588000	0.87417	0.655000	0.94253	CGC		0.547	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		4	46	0	0	0	1	0	4	46				
AGBL5	60509	broad.mit.edu	37	2	27276350	27276350	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27276350G>A	ENST00000360131.4	+	3	455	c.296G>A	c.(295-297)aGc>aAc	p.S99N	AGBL5_ENST00000323064.8_Missense_Mutation_p.S99N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	99					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAGAGCAAGCTGTAT	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(295-297)aGc>aAc		ATP/GTP binding protein-like 5							106.0	101.0	103.0					2																	27276350		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276350G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.296G>A	2.37:g.27276350G>A	ENSP00000353249:p.Ser99Asn					AGBL5_ENST00000323064.8_Missense_Mutation_p.S99N	p.S99N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			3	455	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.296G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383150	0.61845	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.14144	2.55;2.53	5.67	4.77	0.60923	.	0.148973	0.85682	D	0.000000	T	0.19446	0.0467	L	0.43598	1.365	0.45554	D	0.998503	D;P;D	0.55605	0.972;0.935;0.967	P;P;P	0.52481	0.655;0.7;0.7	T	0.03514	-1.1029	10	0.15499	T	0.54	-8.1673	14.4094	0.67106	0.0:0.2811:0.7189:0.0	.	99;99;99	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	99	ENSP00000323681:S99N;ENSP00000353249:S99N	ENSP00000323681:S99N	S	+	2	0	AGBL5	27129854	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.996000	0.63914	1.351000	0.45789	0.561000	0.74099	AGC		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		21	30	0	0	0	1	0	21	30				
PPIL2	23759	broad.mit.edu	37	22	22039094	22039094	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22039094C>T	ENST00000335025.8	+	10	697	c.606C>T	c.(604-606)gcC>gcT	p.A202A	PPIL2_ENST00000492445.2_Silent_p.A202A|PPIL2_ENST00000412327.1_Silent_p.A202A|PPIL2_ENST00000398831.3_Silent_p.A202A|PPIL2_ENST00000406385.1_Silent_p.A202A|PPIL2_ENST00000456792.2_Silent_p.A181A					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ATACAAATGCCGAGACCCGAG	0.537																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(604-606)gcC>gcT		peptidylprolyl isomerase (cyclophilin)-like 2							44.0	45.0	45.0					22																	22039094		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039094C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.606C>T	22.37:g.22039094C>T						PPIL2_ENST00000492445.2_Silent_p.A202A|PPIL2_ENST00000456792.2_Silent_p.A181A|PPIL2_ENST00000398831.3_Silent_p.A202A|PPIL2_ENST00000412327.1_Silent_p.A202A|PPIL2_ENST00000335025.7_Silent_p.A202A	p.A202A			Q13356	PPIL2_HUMAN			10	666	+	Colorectal(54;0.105)		202						Silent	SNP	ENST00000335025.8	37	c.606C>T	CCDS13793.1																																																																																				0.537	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			16	24	0	0	0	1	0	16	24				
STOML2	30968	broad.mit.edu	37	9	35100964	35100964	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35100964C>T	ENST00000356493.5	-	8	831	c.769G>A	c.(769-771)Gct>Act	p.A257T	STOML2_ENST00000452248.2_Missense_Mutation_p.A212T|STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	257					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATTCGAATAGCTTCAGCTTTA	0.532																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(769-771)Gct>Act		stomatin (EPB72)-like 2							180.0	178.0	179.0					9																	35100964		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35100964C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.769G>A	9.37:g.35100964C>T	ENSP00000348886:p.Ala257Thr					STOML2_ENST00000452248.2_Missense_Mutation_p.A212T	p.A257T	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	831	-			257					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.769G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211319	0.95069	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98926	-3.82;-5.24	5.16	5.16	0.70880	.	0.106818	0.64402	D	0.000007	D	0.99199	0.9722	M	0.88450	2.955	0.80722	D	1	P;P	0.51933	0.944;0.949	P;D	0.62955	0.877;0.909	D	0.99387	1.0924	10	0.87932	D	0	-11.8849	18.8395	0.92177	0.0:1.0:0.0:0.0	.	212;257	B4E1K7;Q9UJZ1	.;STML2_HUMAN	T	257;212	ENSP00000348886:A257T;ENSP00000395743:A212T	ENSP00000348886:A257T	A	-	1	0	STOML2	35090964	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.421000	0.80204	2.692000	0.91855	0.563000	0.77884	GCT		0.532	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		76	99	0	0	0	1	0	76	99				
SSH2	85464	broad.mit.edu	37	17	27963449	27963449	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27963449G>A	ENST00000269033.3	-	14	1869	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	SSH2_ENST00000540801.1_Missense_Mutation_p.S600F|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	573					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAAGGCTTTGGATGCATGGCA	0.413																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1717-1719)tCc>tTc		slingshot protein phosphatase 2							100.0	93.0	95.0					17																	27963449		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963449G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1718C>T	17.37:g.27963449G>A	ENSP00000269033:p.Ser573Phe					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S600F	p.S573F	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1869	-			573					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1718C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734423	0.69189	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.39056	1.1;1.1	6.16	5.18	0.71444	.	0.608979	0.17450	N	0.173807	T	0.58235	0.2108	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65443	0.935;0.862	T	0.60016	-0.7345	10	0.87932	D	0	-6.2277	10.1445	0.42755	0.0671:0.0:0.7949:0.138	.	600;573	F5H527;Q76I76	.;SSH2_HUMAN	F	573;600	ENSP00000269033:S573F;ENSP00000444743:S600F	ENSP00000269033:S573F	S	-	2	0	SSH2	24987575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.090000	0.64498	1.586000	0.49944	0.650000	0.86243	TCC		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		30	46	0	0	0	1	0	30	46				
SPTY2D1	144108	broad.mit.edu	37	11	18637464	18637464	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18637464G>A	ENST00000336349.5	-	3	592	c.357C>T	c.(355-357)acC>acT	p.T119T	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	119										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTCTCGGTCGGTTCCTTGGC	0.453																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(355-357)acC>acT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							206.0	195.0	199.0					11																	18637464		2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18637464G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.357C>T	11.37:g.18637464G>A						SPTY2D1_ENST00000543776.1_5'UTR	p.T119T	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	592	-			119					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.357C>T	CCDS31441.1																																																																																				0.453	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		36	95	0	0	0	1	0	36	95				
COPS8	10920	broad.mit.edu	37	2	238002748	238002748	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238002748G>A	ENST00000354371.2	+	5	1000	c.347G>A	c.(346-348)cGc>cAc	p.R116H	COPS8_ENST00000409629.1_Missense_Mutation_p.R116H|COPS8_ENST00000392008.2_Missense_Mutation_p.R67H|COPS8_ENST00000409334.1_Intron	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	116	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ACAAGGAGACGCGCCTTTGCC	0.473																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(346-348)cGc>cAc		COP9 signalosome subunit 8							179.0	150.0	160.0					2																	238002748		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:238002748G>A		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.347G>A	2.37:g.238002748G>A	ENSP00000346340:p.Arg116His					COPS8_ENST00000409629.1_Missense_Mutation_p.R116H|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000392008.2_Missense_Mutation_p.R67H	p.R116H	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	5	1000	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	116			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.347G>A	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185872	0.94885	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409629	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	M	0.82193	2.58	0.80722	D	1	D;D	0.71674	0.992;0.998	P;P	0.55871	0.786;0.786	T	0.81510	-0.0900	9	0.66056	D	0.02	.	17.9324	0.89002	0.0:0.0:1.0:0.0	.	116;116	B8ZZP3;Q99627	.;CSN8_HUMAN	H	116;67;116	.	ENSP00000346340:R116H	R	+	2	0	COPS8	237667487	1.000000	0.71417	0.231000	0.23993	0.983000	0.72400	9.047000	0.93823	2.466000	0.83321	0.591000	0.81541	CGC		0.473	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		53	56	0	0	0	1	0	53	56				
PRF1	5551	broad.mit.edu	37	10	72358201	72358201	+	Missense_Mutation	SNP	C	C	A	rs1042652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72358201C>A	ENST00000441259.1	-	3	1436	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	PRF1_ENST00000373209.2_Missense_Mutation_p.G426C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	426	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.			G -> S (in Ref. 1; CAA31612). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCCCACAGGCCCCATGCTTGG	0.622			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1276-1278)Ggc>Tgc		perforin 1 (pore forming protein)							38.0	36.0	37.0					10																	72358201		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358201C>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1276G>T	10.37:g.72358201C>A	ENSP00000398568:p.Gly426Cys					PRF1_ENST00000373209.2_Missense_Mutation_p.G426C	p.G426C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1436	-			426	G -> S (in Ref. 1; CAA31612).		C2.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1276G>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565657	0.27915	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.96232	-3.95;-3.95	5.7	-3.36	0.04913	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.596307	0.19633	N	0.109632	D	0.97745	0.9260	H	0.94925	3.6	0.09310	N	1	D	0.65815	0.995	D	0.66084	0.941	D	0.94266	0.7506	10	0.72032	D	0.01	-0.5096	7.723	0.28744	0.0:0.4382:0.1038:0.458	.	426	P14222	PERF_HUMAN	C	426	ENSP00000362305:G426C;ENSP00000398568:G426C	ENSP00000316746:G426C	G	-	1	0	PRF1	72028207	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.547000	0.23299	-0.705000	0.05035	-0.471000	0.05019	GGC		0.622	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		11	9	1	0	3.07112e-06	1	3.18879e-06	11	9				
ANGPTL2	23452	broad.mit.edu	37	9	129870557	129870557	+	Missense_Mutation	SNP	C	C	T	rs138716830		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129870557C>T	ENST00000373425.3	-	2	1071	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	152					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCTCCAACGCGTTGTCCCGC	0.597																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(454-456)Gcg>Acg		angiopoietin-like 2		C	,,,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	65.0	57.0	60.0		,,,454,	5.2	0.9	9	dbSNP_134	60	0,8600		0,0,4300	no	intron,intron,intron,missense,intron	RALGPS1,ANGPTL2	NM_001190728.1,NM_001190729.1,NM_001190730.1,NM_012098.2,NM_014636.2	,,,58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,possibly-damaging,	,,,152/494,	129870557	1,13005	2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870557C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.454G>A	9.37:g.129870557C>T	ENSP00000362524:p.Ala152Thr					RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron	p.A152T	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1071	-			152					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.454G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990507	0.74589	2.27E-4	0.0	ENSG00000136859	ENST00000373425	T	0.38887	1.11	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.64997	1.995	0.80722	D	1	D	0.54207	0.965	B	0.42916	0.402	T	0.55166	-0.8183	10	0.66056	D	0.02	.	18.7884	0.91964	0.0:1.0:0.0:0.0	.	152	Q9UKU9	ANGL2_HUMAN	T	152	ENSP00000362524:A152T	ENSP00000362524:A152T	A	-	1	0	ANGPTL2	128910378	1.000000	0.71417	0.890000	0.34922	0.736000	0.42039	4.733000	0.62036	2.447000	0.82792	0.655000	0.94253	GCG		0.597	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		19	41	0	0	0	1	0	19	41				
WFDC8	90199	broad.mit.edu	37	20	44184457	44184457	+	Missense_Mutation	SNP	G	G	A	rs545695082	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44184457G>A	ENST00000357199.4	-	4	406	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	WFDC8_ENST00000289953.2_Missense_Mutation_p.R110C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	110	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R110C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAATGCCAGCGCTGTGCCTCA	0.458													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20764	0.0		0.0	False		,,,				2504	0.0					ENST00000357199.4																			1	Substitution - Missense(1)	p.R110C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(328-330)Cgc>Tgc		WAP four-disulfide core domain 8							112.0	100.0	104.0					20																	44184457		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184457G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.328C>T	20.37:g.44184457G>A	ENSP00000361735:p.Arg110Cys					WFDC8_ENST00000289953.2_Missense_Mutation_p.R110C	p.R110C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN			4	406	-		Myeloproliferative disorder(115;0.0122)	110			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.328C>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927543	0.52759	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.63096	-0.02;-0.02	4.26	3.29	0.37713	Proteinase inhibitor I2, Kunitz metazoa (5);	0.463132	0.20651	N	0.088214	T	0.81597	0.4856	H	0.94264	3.515	0.09310	N	0.999994	D	0.89917	1.0	D	0.67103	0.949	T	0.73033	-0.4110	10	0.87932	D	0	.	9.5521	0.39317	0.0:0.0:0.7905:0.2095	.	110	Q8IUA0	WFDC8_HUMAN	C	110	ENSP00000361735:R110C;ENSP00000289953:R110C	ENSP00000289953:R110C	R	-	1	0	WFDC8	43617871	0.065000	0.20965	0.011000	0.14972	0.059000	0.15707	2.441000	0.44864	1.358000	0.45922	0.655000	0.94253	CGC		0.458	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			25	41	0	0	0	1	0	25	41				
NUP205	23165	broad.mit.edu	37	7	135282805	135282805	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:135282805C>T	ENST00000285968.6	+	15	2150	c.2124C>T	c.(2122-2124)tgC>tgT	p.C708C	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	708					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGGCCTTTTGCCAGCTTATTA	0.423																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2122-2124)tgC>tgT		nucleoporin 205kDa							192.0	208.0	202.0					7																	135282805		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135282805C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2124C>T	7.37:g.135282805C>T						NUP205_ENST00000440390.2_3'UTR	p.C708C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			15	2150	+			708					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2124C>T	CCDS34759.1																																																																																				0.423	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			103	122	0	0	0	1	0	103	122				
CREBBP	1387	broad.mit.edu	37	16	3779687	3779687	+	Silent	SNP	G	G	A	rs375462934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3779687G>A	ENST00000262367.5	-	31	6170	c.5361C>T	c.(5359-5361)aaC>aaT	p.N1787N	CREBBP_ENST00000382070.3_Silent_p.N1749N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1787	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCAGTTGGCGTTGCGGCACT	0.662			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(5359-5361)aaC>aaT		CREB binding protein		G	,	0,4394		0,0,2197	56.0	48.0	51.0		5247,5361	-5.8	0.9	16		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CREBBP	NM_001079846.1,NM_004380.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	1749/2405,1787/2443	3779687	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779687G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5361C>T	16.37:g.3779687G>A						CREBBP_ENST00000382070.3_Silent_p.N1749N	p.N1787N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6170	-		Ovarian(90;0.0266)	1787			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5361C>T	CCDS10509.1																																																																																				0.662	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	20	0	0	0	1	0	15	20				
CFHR3	10878	broad.mit.edu	37	1	196759314	196759314	+	Silent	SNP	A	A	G	rs369359160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196759314A>G	ENST00000367425.4	+	5	845	c.753A>G	c.(751-753)gtA>gtG	p.V251V	CFHR3_ENST00000391985.3_Silent_p.V190V	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	251	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTAATTATGTAACATGTAGTA	0.393																																						ENST00000367425.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(751-753)gtA>gtG		complement factor H-related 3		A	,	0,3240		0,0,1620	60.0	87.0	79.0		570,753	-3.1	0.0	1		79	3,7891		0,3,3944	no	coding-synonymous,coding-synonymous	CFHR3	NM_001166624.1,NM_021023.5	,	0,3,5564	GG,GA,AA		0.038,0.0,0.0269	,	190/270,251/331	196759314	3,11131	1620	3947	5567	SO:0001819	synonymous_variant	10878							g.chr1:196759314A>G	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.753A>G	1.37:g.196759314A>G						CFHR3_ENST00000391985.3_Silent_p.V190V	p.V251V	NM_021023.5	NP_066303.2					5	845	+								B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	c.753A>G	CCDS30958.1																																																																																				0.393	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		42	6	0	0	0	1	0	42	6				
PTPRJ	5795	broad.mit.edu	37	11	48145237	48145237	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:48145237G>A	ENST00000418331.2	+	5	1041	c.689G>A	c.(688-690)gGc>gAc	p.G230D	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G230D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	230	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAGCAATGGCAATGGCACT	0.493																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(688-690)gGc>gAc		protein tyrosine phosphatase, receptor type, J							79.0	73.0	75.0					11																	48145237		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145237G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.689G>A	11.37:g.48145237G>A	ENSP00000400010:p.Gly230Asp					PTPRJ_ENST00000440289.2_Missense_Mutation_p.G230D	p.G230D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			5	1041	+			230			Fibronectin type-III 2.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.689G>A	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606652	0.28623	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.64803	-0.12;-0.12	5.85	-7.16	0.01516	Fibronectin, type III (2);	.	.	.	.	T	0.32526	0.0832	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.26950	-1.0088	9	0.17369	T	0.5	.	8.7866	0.34825	0.2649:0.2451:0.4901:0.0	.	230;230	Q12913;Q6P4H4	PTPRJ_HUMAN;.	D	230;230;230;142	ENSP00000400010:G230D;ENSP00000409733:G230D	ENSP00000278456:G230D	G	+	2	0	PTPRJ	48101813	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.919000	0.04017	-1.162000	0.02797	-0.290000	0.09829	GGC		0.493	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			22	40	0	0	0	1	0	22	40				
SLC6A19	340024	broad.mit.edu	37	5	1201802	1201802	+	Missense_Mutation	SNP	G	G	A	rs200291939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1201802G>A	ENST00000304460.10	+	1	93	c.37G>A	c.(37-39)Gcc>Acc	p.A13T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	13					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCTAGACGCCCGGATCCC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		12336	0.0		0.0	False		,,,				2504	0.001					ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(37-39)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 19							31.0	31.0	31.0					5																	1201802		2194	4299	6493	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1201802G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.37G>A	5.37:g.1201802G>A	ENSP00000305302:p.Ala13Thr						p.A13T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	93	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		13					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.37G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	1.385	-0.582352	0.03827	.	.	ENSG00000174358	ENST00000304460	T	0.74002	-0.8	4.03	0.967	0.19674	.	0.600804	0.17869	N	0.159232	T	0.44307	0.1287	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.18871	0.023	T	0.15780	-1.0425	10	0.16420	T	0.52	.	1.8582	0.03183	0.2512:0.1449:0.4561:0.1477	.	13	Q695T7	S6A19_HUMAN	T	13	ENSP00000305302:A13T	ENSP00000305302:A13T	A	+	1	0	SLC6A19	1254802	0.354000	0.24912	0.580000	0.28601	0.004000	0.04260	0.364000	0.20325	0.377000	0.24735	-1.446000	0.01064	GCC		0.682	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		5	7	0	0	0	1	0	5	7				
TCF20	6942	broad.mit.edu	37	22	42606103	42606103	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42606103G>A	ENST00000359486.3	-	1	5345	c.5209C>T	c.(5209-5211)Cca>Tca	p.P1737S	TCF20_ENST00000404876.1_Missense_Mutation_p.P38S|TCF20_ENST00000335626.4_Missense_Mutation_p.P1737S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTAGGAGGTGGATTCTTCGGG	0.512																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5209-5211)Cca>Tca		transcription factor 20 (AR1)							101.0	102.0	102.0					22																	42606103		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606103G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5209C>T	22.37:g.42606103G>A	ENSP00000352463:p.Pro1737Ser					TCF20_ENST00000335626.4_Missense_Mutation_p.P1737S|TCF20_ENST00000404876.1_Missense_Mutation_p.P38S	p.P1737S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5345	-			1737					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5209C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349348	0.41599	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.66995	0.35;0.35;-0.24	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.70710	0.3255	L	0.60455	1.87	0.58432	D	0.999994	B;B	0.31209	0.313;0.136	B;B	0.39027	0.288;0.15	T	0.64499	-0.6393	10	0.31617	T	0.26	-7.2393	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1737;1737	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1737;1737;38	ENSP00000352463:P1737S;ENSP00000335561:P1737S;ENSP00000385531:P38S	ENSP00000335561:P1737S	P	-	1	0	TCF20	40936047	1.000000	0.71417	0.620000	0.29132	0.988000	0.76386	9.807000	0.99171	2.884000	0.98904	0.655000	0.94253	CCA		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		36	64	0	0	0	1	0	36	64				
ADCY2	108	broad.mit.edu	37	5	7826973	7826973	+	Missense_Mutation	SNP	G	G	A	rs200555888		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:7826973G>A	ENST00000338316.4	+	25	3354	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V909M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1089					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAGAGCAACGTGGCATCCTG	0.453																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(3265-3267)Gtg>Atg		adenylate cyclase 2 (brain)							105.0	87.0	93.0					5																	7826973		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826973G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3265G>A	5.37:g.7826973G>A	ENSP00000342952:p.Val1089Met					ADCY2_ENST00000537121.1_Missense_Mutation_p.V909M	p.V1089M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			25	3354	+			1089					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3265G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029656	0.19512	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;D	0.82619	-1.18;-1.63	5.76	-5.23	0.02798	.	0.401382	0.24957	N	0.034249	T	0.67896	0.2942	L	0.47716	1.5	0.19945	N	0.999946	B;B	0.24483	0.104;0.051	B;B	0.17433	0.018;0.018	T	0.51679	-0.8675	10	0.36615	T	0.2	.	3.8242	0.08848	0.1673:0.3464:0.334:0.1523	.	909;1089	B7Z2C1;Q08462	.;ADCY2_HUMAN	M	1089;201;922;909	ENSP00000342952:V1089M;ENSP00000444803:V909M	ENSP00000342952:V1089M	V	+	1	0	ADCY2	7879973	0.003000	0.15002	0.057000	0.19452	0.389000	0.30415	0.165000	0.16564	-1.700000	0.01414	-0.340000	0.08031	GTG		0.453	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	41	0	0	0	1	0	25	41				
PTCH2	8643	broad.mit.edu	37	1	45288094	45288094	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45288094G>A	ENST00000372192.3	-	22	3735	c.3605C>T	c.(3604-3606)aCt>aTt	p.T1202I	PTCH2_ENST00000447098.2_Intron|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1202					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTTTCACCCAGTGGCTGGACC	0.622									Basal Cell Nevus syndrome																													ENST00000372192.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3604-3606)aCt>aTt		patched 2							44.0	48.0	47.0					1																	45288094		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288094G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3605C>T	1.37:g.45288094G>A	ENSP00000361266:p.Thr1202Ile					PTCH2_ENST00000447098.2_Intron	p.T1202I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN			22	3735	-	Acute lymphoblastic leukemia(166;0.155)		1202					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3605C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	g	18.28	3.589580	0.66105	.	.	ENSG00000117425	ENST00000372192	D	0.92446	-3.04	4.96	4.0	0.46444	.	1.395140	0.05215	N	0.507480	D	0.84701	0.5530	N	0.08118	0	0.09310	N	0.999997	B	0.33073	0.396	B	0.31614	0.133	T	0.75947	-0.3138	10	0.87932	D	0	-0.5648	10.6718	0.45762	0.0:0.0:0.8103:0.1897	.	1202	Q9Y6C5	PTC2_HUMAN	I	1202	ENSP00000361266:T1202I	ENSP00000361266:T1202I	T	-	2	0	PTCH2	45060681	0.194000	0.23325	0.010000	0.14722	0.393000	0.30537	3.356000	0.52269	2.576000	0.86940	0.552000	0.68991	ACT		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		24	19	0	0	0	1	0	24	19				
IL21R	50615	broad.mit.edu	37	16	27460093	27460093	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27460093G>A	ENST00000337929.3	+	9	1579	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	IL21R_ENST00000564089.1_Missense_Mutation_p.R369Q|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.R369Q|IL21R_ENST00000395755.1_Missense_Mutation_p.R369Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	369					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGAGGGATCGGCCATACGGC	0.627			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1105-1107)cGg>cAg		interleukin 21 receptor							64.0	62.0	63.0					16																	27460093		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460093G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1106G>A	16.37:g.27460093G>A	ENSP00000338010:p.Arg369Gln					IL21R_ENST00000564089.1_Missense_Mutation_p.R369Q|IL21R_ENST00000395754.4_Missense_Mutation_p.R369Q|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.R369Q	p.R369Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1579	+			369					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1106G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091072	0.55968	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.37584	1.19;1.19;1.19	5.07	3.89	0.44902	.	0.502768	0.22040	N	0.065461	T	0.39911	0.1096	M	0.67953	2.075	0.35686	D	0.814487	D	0.57257	0.979	P	0.47827	0.558	T	0.50775	-0.8788	10	0.34782	T	0.22	-43.8728	9.3222	0.37971	0.1149:0.0:0.8851:0.0	.	369	Q9HBE5	IL21R_HUMAN	Q	369	ENSP00000338010:R369Q;ENSP00000379104:R369Q;ENSP00000379103:R369Q	ENSP00000338010:R369Q	R	+	2	0	IL21R	27367594	0.793000	0.28825	0.998000	0.56505	0.094000	0.18550	0.910000	0.28571	2.356000	0.79943	0.462000	0.41574	CGG		0.627	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		5	45	0	0	0	1	0	5	45				
HMGXB4	10042	broad.mit.edu	37	22	35660782	35660782	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35660782C>T	ENST00000216106.5	+	5	529	c.401C>T	c.(400-402)tCc>tTc	p.S134F	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S25F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	134					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGAGAAATCCTCTGGCTCT	0.532																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(400-402)tCc>tTc		HMG box domain containing 4							50.0	53.0	52.0					22																	35660782		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660782C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.401C>T	22.37:g.35660782C>T	ENSP00000216106:p.Ser134Phe					HMGXB4_ENST00000444518.2_Missense_Mutation_p.S25F	p.S134F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	529	+			134					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.401C>T	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429708	0.62844	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.89	5.89	0.94794	.	0.156603	0.64402	D	0.000015	T	0.52948	0.1766	L	0.27053	0.805	0.42695	D	0.99359	D	0.60575	0.988	D	0.64321	0.924	T	0.55354	-0.8154	10	0.72032	D	0.01	-1.7547	12.5414	0.56172	0.0:0.9247:0.0:0.0753	.	134	Q9UGU5	HMGX4_HUMAN	F	25;25;25;134	ENSP00000401658:S25F;ENSP00000398302:S25F;ENSP00000415500:S25F;ENSP00000216106:S134F	ENSP00000216106:S134F	S	+	2	0	HMGXB4	33990782	1.000000	0.71417	0.764000	0.31436	0.892000	0.51952	4.690000	0.61731	2.797000	0.96272	0.563000	0.77884	TCC		0.532	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		4	64	0	0	0	1	0	4	64				
MUL1	79594	broad.mit.edu	37	1	20828657	20828657	+	Silent	SNP	C	C	T	rs201039729		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20828657C>T	ENST00000264198.3	-	3	370	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	78					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGCTGTTAAGCGTTTCTTTAA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20288	0.0		0.001	False		,,,				2504	0.0					ENST00000264198.3																			0				endometrium(2)|large_intestine(4)|lung(5)	11						c.(232-234)acG>acA		mitochondrial E3 ubiquitin protein ligase 1							104.0	103.0	103.0					1																	20828657		2203	4300	6503	SO:0001819	synonymous_variant	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20828657C>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.234G>A	1.37:g.20828657C>T							p.T78T	NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	370	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	78					B5M497|Q7Z431|Q9H9B5	Silent	SNP	ENST00000264198.3	37	c.234G>A	CCDS208.1																																																																																				0.428	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		8	105	0	0	0	1	0	8	105				
SYNPO	11346	broad.mit.edu	37	5	150029259	150029259	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150029259C>T	ENST00000394243.1	+	3	2528	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000519664.1_Silent_p.S474S|SYNPO_ENST00000522122.1_Silent_p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	718					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCTCTCCGAGGCCTCTG	0.652																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2152-2154)tcC>tcT		synaptopodin							39.0	44.0	42.0					5																	150029259		2203	4300	6503	SO:0001819	synonymous_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029259C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2154C>T	5.37:g.150029259C>T						SYNPO_ENST00000522122.1_Silent_p.S718S|SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000519664.1_Silent_p.S474S	p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2528	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	718					A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	c.2154C>T	CCDS54937.1																																																																																				0.652	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	15	0	0	0	1	0	6	15				
XKR4	114786	broad.mit.edu	37	8	56270427	56270427	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:56270427G>T	ENST00000327381.6	+	2	1096	c.996G>T	c.(994-996)caG>caT	p.Q332H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	332						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATAGCTTACAGGCCCTCCAAG	0.478																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(994-996)caG>caT		XK, Kell blood group complex subunit-related family, member 4							86.0	76.0	79.0					8																	56270427		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270427G>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.996G>T	8.37:g.56270427G>T	ENSP00000328326:p.Gln332His						p.Q332H	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1096	+			332					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.996G>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110972	0.56398	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63580	-0.05	5.96	5.96	0.96718	.	0.317119	0.35615	N	0.003093	T	0.58807	0.2148	N	0.14661	0.345	0.41963	D	0.990717	D	0.54397	0.966	P	0.55161	0.77	T	0.61446	-0.7061	10	0.46703	T	0.11	-20.0562	14.5536	0.68084	0.0693:0.0:0.9307:0.0	.	332	Q5GH76	XKR4_HUMAN	H	332	ENSP00000328326:Q332H	ENSP00000328326:Q332H	Q	+	3	2	XKR4	56432981	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.678000	0.68153	2.831000	0.97527	0.650000	0.86243	CAG		0.478	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		13	16	1	0	4.3838e-07	1	4.58243e-07	13	16				
PTPRB	5787	broad.mit.edu	37	12	70954643	70954643	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70954643G>A	ENST00000261266.5	-	15	3615	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	PTPRB_ENST00000538708.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1106S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1326S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1413S|PTPRB_ENST00000334414.6_Missense_Mutation_p.P1414S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1196	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGAGGCTGGACTCCAGTTG	0.473																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4240-4242)Cca>Tca		protein tyrosine phosphatase, receptor type, B							108.0	98.0	101.0					12																	70954643		1878	4116	5994	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954643G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3586C>T	12.37:g.70954643G>A	ENSP00000261266:p.Pro1196Ser					PTPRB_ENST00000551525.1_Missense_Mutation_p.P1413S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1326S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1106S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1106S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1196S	p.P1414S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4284	-	Renal(347;0.236)		1196			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4240C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.569626	0.86439	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.231976	0.43110	D	0.000607	T	0.64182	0.2575	L	0.49640	1.575	0.80722	D	1	B;B;P;P;P;B;P	0.45044	0.144;0.075;0.554;0.82;0.849;0.433;0.849	P;P;P;P;P;P;P	0.52710	0.455;0.455;0.533;0.513;0.697;0.707;0.624	T	0.57093	-0.7870	10	0.14656	T	0.56	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	1106;1106;1293;1413;1414;1196;1326	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	S	1414;1106;1326;1106;1106;1196;1413;1293	ENSP00000334928:P1414S;ENSP00000393028:P1106S;ENSP00000448058:P1326S;ENSP00000438927:P1106S;ENSP00000447302:P1106S;ENSP00000261266:P1196S;ENSP00000448349:P1413S;ENSP00000446982:P1293S	ENSP00000261266:P1196S	P	-	1	0	PTPRB	69240910	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.026000	0.70873	2.421000	0.82119	0.558000	0.71614	CCA		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			30	41	0	0	0	1	0	30	41				
PSG7	5676	broad.mit.edu	37	19	43439705	43439705	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43439705G>A	ENST00000406070.2	-	0	377				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCCACTGTATGCAGGCCCATA	0.408																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							302.0	298.0	300.0					19																	43439705		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439705G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439705G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	377	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.408	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		46	238	0	0	0	1	0	46	238				
BTRC	8945	broad.mit.edu	37	10	103292116	103292116	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103292116C>T	ENST00000370187.3	+	8	1023	c.905C>T	c.(904-906)aCa>aTa	p.T302I	BTRC_ENST00000408038.2_Missense_Mutation_p.T266I|BTRC_ENST00000393441.4_Missense_Mutation_p.T261I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	302					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGAAGTGAAACAAGCAAAGGA	0.398																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(904-906)aCa>aTa		beta-transducin repeat containing E3 ubiquitin protein ligase							148.0	148.0	148.0					10																	103292116		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103292116C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.905C>T	10.37:g.103292116C>T	ENSP00000359206:p.Thr302Ile					BTRC_ENST00000393441.4_Missense_Mutation_p.T261I|BTRC_ENST00000408038.2_Missense_Mutation_p.T266I	p.T302I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1023	+		Colorectal(252;0.234)	302					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.905C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003092	0.54254	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.35605	1.3;1.3;2.25	5.96	5.05	0.67936	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.27053	0.805	0.50171	D	0.999855	P;P;P	0.49253	0.617;0.688;0.921	B;B;P	0.54140	0.232;0.265;0.743	T	0.39702	-0.9601	10	0.62326	D	0.03	-13.4427	16.6653	0.85252	0.1308:0.8692:0.0:0.0	.	276;266;302	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	I	302;261;266	ENSP00000359206:T302I;ENSP00000377088:T261I;ENSP00000385339:T266I	ENSP00000359206:T302I	T	+	2	0	BTRC	103282106	1.000000	0.71417	0.997000	0.53966	0.541000	0.35023	4.909000	0.63314	1.516000	0.48900	-0.169000	0.13324	ACA		0.398	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		41	46	0	0	0	1	0	41	46				
MXI1	4601	broad.mit.edu	37	10	112038952	112038952	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:112038952G>A	ENST00000239007.7	+	4	469	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MXI1_ENST00000361248.4_Missense_Mutation_p.R38H|MXI1_ENST00000393134.1_Missense_Mutation_p.R74H|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000369612.1_Missense_Mutation_p.R48H|MXI1_ENST00000332674.5_Missense_Mutation_p.R151H	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	84	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCTCATCTGCGCCTTTGTTTA	0.383																																						ENST00000332674.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(451-453)cGc>cAc		MAX interactor 1, dimerization protein							140.0	129.0	133.0					10																	112038952		2203	4300	6503	SO:0001583	missense	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:112038952G>A	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.251G>A	10.37:g.112038952G>A	ENSP00000239007:p.Arg84His					MXI1_ENST00000369612.1_Missense_Mutation_p.R48H|MXI1_ENST00000393134.1_Missense_Mutation_p.R74H|MXI1_ENST00000239007.7_Missense_Mutation_p.R84H|MXI1_ENST00000361248.4_Missense_Mutation_p.R38H|MXI1_ENST00000485566.1_3'UTR	p.R151H	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	656	+		Breast(234;0.052)|Lung NSC(174;0.223)	84					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	ENST00000239007.7	37	c.452G>A	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996929	0.93167	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000442296;ENST00000369612	D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	5.65	5.65	0.86999	Helix-loop-helix DNA-binding (5);	0.139926	0.64402	N	0.000002	D	0.99052	0.9675	M	0.90922	3.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.998	D	0.99505	1.0954	10	0.87932	D	0	-15.8328	19.7215	0.96144	0.0:0.0:1.0:0.0	.	74;48;84;151	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	H	151;141;38;84;74;74;48;48;48;48	ENSP00000331152:R151H;ENSP00000398981:R141H;ENSP00000354606:R38H;ENSP00000239007:R84H;ENSP00000376842:R74H;ENSP00000407711:R48H;ENSP00000358625:R48H	ENSP00000239007:R84H	R	+	2	0	MXI1	112028942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.828000	0.99408	2.672000	0.90937	0.591000	0.81541	CGC		0.383	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		14	19	0	0	0	1	0	14	19				
MAN2C1	4123	broad.mit.edu	37	15	75648507	75648507	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75648507G>A	ENST00000267978.5	-	25	2986	c.2940C>T	c.(2938-2940)caC>caT	p.H980H	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000563622.1_Silent_p.H881H|MAN2C1_ENST00000569482.1_Silent_p.H957H|MAN2C1_ENST00000565683.1_Silent_p.H997H	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	980					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGTGGCTGCCGTGGGCCTCAT	0.692																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2989-2991)caC>caT		mannosidase, alpha, class 2C, member 1							25.0	28.0	27.0					15																	75648507		2197	4293	6490	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648507G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2940C>T	15.37:g.75648507G>A						MAN2C1_ENST00000563622.1_Silent_p.H881H|MAN2C1_ENST00000569482.1_Silent_p.H957H|MAN2C1_ENST00000267978.5_Silent_p.H980H	p.H997H	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			25	3002	-			980					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.2991C>T	CCDS32298.1																																																																																				0.692	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			5	15	0	0	0	1	0	5	15				
SYNE1	23345	broad.mit.edu	37	6	152473249	152473249	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152473249G>T	ENST00000367255.5	-	134	24758	c.24157C>A	c.(24157-24159)Ctg>Atg	p.L8053M	SYNE1_ENST00000356820.4_Missense_Mutation_p.L2577M|SYNE1_ENST00000539504.1_Missense_Mutation_p.L208M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8053M|SYNE1_ENST00000354674.4_Missense_Mutation_p.L208M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7665M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7982M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8053					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTGCGTCAGGCACTCGTGG	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(24157-24159)Ctg>Atg		spectrin repeat containing, nuclear envelope 1							88.0	76.0	80.0					6																	152473249		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.chr6:152473249G>T	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.24157C>A	6.37:g.152473249G>T	ENSP00000356224:p.Leu8053Met	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.L208M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.L208M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2577M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7665M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7982M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8053M	p.L8053M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	134	24758	-		Ovarian(120;0.0955)	8053					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.24157C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303582	0.81136	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49720	1.34;0.77;0.77;1.34;1.34;1.34;1.34;0.77;0.77;0.77	5.96	5.1	0.69264	.	0.000000	0.45867	D	0.000336	T	0.59715	0.2214	M	0.82517	2.595	0.52099	D	0.999949	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.997	T	0.63400	-0.6646	10	0.35671	T	0.21	.	11.2193	0.48844	0.1392:0.0:0.8608:0.0	.	8053;8053;7982;7982;255	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8053;208;699;7982;8053;7982;7665;2577;215;210;975;208	ENSP00000356224:L8053M;ENSP00000441052:L208M;ENSP00000356226:L699M;ENSP00000396024:L7982M;ENSP00000265368:L8053M;ENSP00000390975:L7982M;ENSP00000341887:L7665M;ENSP00000349276:L2577M;ENSP00000356220:L975M;ENSP00000346701:L208M	ENSP00000265368:L8053M	L	-	1	2	SYNE1	152514942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.761000	0.62243	1.538000	0.49270	0.650000	0.86243	CTG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	35	1	0	1.01871e-10	1	1.09092e-10	19	35				
NPY4R	5540	broad.mit.edu	37	10	47086845	47086845	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:47086845G>A	ENST00000395716.1	+	2	147	c.62G>A	c.(61-63)aGc>aAc	p.S21N	NPY4R_ENST00000374312.1_Missense_Mutation_p.S21N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	21					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GAAAACAGAAGCAAACCCCTG	0.493																																						ENST00000374312.1																			0											c.(61-63)aGc>aAc		neuropeptide Y receptor Y4							129.0	122.0	125.0					10																	47086845		2203	4300	6503	SO:0001583	missense	0							g.chr10:47086845G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.62G>A	10.37:g.47086845G>A	ENSP00000379066:p.Ser21Asn					NPY4R_ENST00000395716.1_Missense_Mutation_p.S21N	p.S21N	NM_005972.4	NP_005963.3					3	481	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.62G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	7.412	0.634944	0.14322	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.54071	0.59;0.59	4.78	3.85	0.44370	.	1.156950	0.06063	N	0.658762	T	0.53318	0.1789	M	0.61703	1.905	0.29414	N	0.861019	B	0.22276	0.067	B	0.17979	0.02	T	0.48387	-0.9040	10	0.44086	T	0.13	.	11.2861	0.49222	0.0:0.1942:0.8058:0.0	.	21	P50391	NPY4R_HUMAN	N	21	ENSP00000363431:S21N;ENSP00000379066:S21N	ENSP00000363431:S21N	S	+	2	0	PPYR1	46506851	1.000000	0.71417	0.664000	0.29753	0.078000	0.17371	1.398000	0.34554	1.296000	0.44742	0.655000	0.94253	AGC		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			20	63	0	0	0	1	0	20	63				
TSPAN5	10098	broad.mit.edu	37	4	99403179	99403179	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:99403179G>A	ENST00000305798.3	-	4	829	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L72F|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	143					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AAGTCTATGAGGTTTTGCAAA	0.373																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(427-429)Ctc>Ttc		tetraspanin 5							154.0	154.0	154.0					4																	99403179		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99403179G>A		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.427C>T	4.37:g.99403179G>A	ENSP00000307701:p.Leu143Phe					TSPAN5_ENST00000505184.1_Missense_Mutation_p.L72F|TSPAN5_ENST00000509168.1_5'UTR	p.L143F	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	4	829	-			143					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.427C>T	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824832	0.90955	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287	T;T;T	0.79653	-1.29;-1.29;-1.29	5.94	5.94	0.96194	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88419	0.3027	10	0.52906	T	0.07	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	143	P62079	TSN5_HUMAN	F	143;72;72	ENSP00000307701:L143F;ENSP00000423916:L72F;ENSP00000423504:L72F	ENSP00000307701:L143F	L	-	1	0	TSPAN5	99622202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.820000	0.97059	0.650000	0.86243	CTC		0.373	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		39	65	0	0	0	1	0	39	65				
CACNA1I	8911	broad.mit.edu	37	22	40037071	40037071	+	Missense_Mutation	SNP	G	G	T	rs61607492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40037071G>T	ENST00000402142.3	+	6	940	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G314C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G314C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G314C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	314					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAATGCCAGCGGCCTCTGTGT	0.607																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(940-942)Ggc>Tgc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						62.0	68.0	66.0					22																	40037071		2047	4184	6231	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037071G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.940G>T	22.37:g.40037071G>T	ENSP00000385019:p.Gly314Cys					CACNA1I_ENST00000400164.3_Missense_Mutation_p.G314C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G314C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G314C	p.G314C			Q9P0X4	CAC1I_HUMAN			8	940	+	Melanoma(58;0.0749)		314					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.940G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538288	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97232	-4.28;-4.24;-4.26;-4.23;-4.3;-4.2	5.21	5.21	0.72293	Ion transport (1);	0.213199	0.42053	D	0.000766	D	0.98441	0.9481	M	0.79693	2.465	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.993	D	0.99250	1.0887	10	0.59425	D	0.04	.	18.7618	0.91855	0.0:0.0:1.0:0.0	.	314;314;314;314	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	314	ENSP00000385019:G314C;ENSP00000384093:G314C;ENSP00000383887:G314C;ENSP00000385680:G314C;ENSP00000337829:G314C;ENSP00000383028:G314C	ENSP00000337829:G314C	G	+	1	0	CACNA1I	38367017	0.986000	0.35501	0.988000	0.46212	0.793000	0.44817	4.051000	0.57412	2.445000	0.82738	0.563000	0.77884	GGC		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		26	50	1	0	3.65163e-15	1	3.99483e-15	26	50				
MARVELD3	91862	broad.mit.edu	37	16	71674559	71674559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71674559G>T	ENST00000299952.4	+	3	905	c.862G>T	c.(862-864)Gga>Tga	p.G288*	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	291	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TTTACTCCAAGGAGCCAAGAG	0.587																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(862-864)Gga>Tga		MARVEL domain containing 3							57.0	50.0	53.0					16																	71674559		2198	4300	6498	SO:0001587	stop_gained	91862					integral to membrane		g.chr16:71674559G>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.862G>T	16.37:g.71674559G>T	ENSP00000299952:p.Gly288*					MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	p.G288*	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	905	+		Ovarian(137;0.125)	291			MARVEL.		A8K820|H3BQM5|Q96MJ4	Nonsense_Mutation	SNP	ENST00000299952.4	37	c.862G>T	CCDS32478.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965629	0.74131	.	.	ENSG00000140832	ENST00000299952	.	.	.	5.79	5.79	0.91817	.	0.048480	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3	17.535	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000299952:G288X	G	+	1	0	MARVELD3	70232060	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	6.737000	0.74816	2.739000	0.93911	0.655000	0.94253	GGA		0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		8	19	1	0	0.00307968	1	0.00311927	8	19				
AHNAK	79026	broad.mit.edu	37	11	62288746	62288746	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62288746C>T	ENST00000378024.4	-	5	13417	c.13143G>A	c.(13141-13143)aaG>aaA	p.K4381K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4381					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTGGGGGCCTTGATGTTCA	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13141-13143)aaG>aaA		AHNAK nucleoprotein							146.0	154.0	151.0					11																	62288746		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62288746C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13143G>A	11.37:g.62288746C>T						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4381K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13417	-		Melanoma(852;0.155)	4381					A1A586	Silent	SNP	ENST00000378024.4	37	c.13143G>A	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	192	0	0	0	1	0	6	192				
TPTE	7179	broad.mit.edu	37	21	10944758	10944758	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10944758T>C	ENST00000361285.4	-	11	805	c.476A>G	c.(475-477)aAc>aGc	p.N159S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N121S|TPTE_ENST00000298232.7_Missense_Mutation_p.N141S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N159I(1)|p.N141I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAAAATGTTAAATAAGTC	0.318																																						ENST00000298232.7																			2	Substitution - Missense(2)	p.N159I(1)|p.N141I(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(421-423)aAc>aGc		transmembrane phosphatase with tensin homology							118.0	129.0	125.0					21																	10944758		2203	4296	6499	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944758T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.476A>G	21.37:g.10944758T>C	ENSP00000355208:p.Asn159Ser					TPTE_ENST00000361285.4_Missense_Mutation_p.N159S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.N121S	p.N141S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	10	789	-			159					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.422A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783294	0.31593	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99245	-5.62;-5.62;-5.62	2.31	2.31	0.28768	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98826	0.9604	L	0.59967	1.855	0.47341	D	0.99939	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.76575	0.98;0.98;0.988	D	0.98290	1.0513	10	0.62326	D	0.03	-34.0326	6.5921	0.22651	0.0:0.0:0.0:1.0	.	121;141;159	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	141;159;121	ENSP00000298232:N141S;ENSP00000355208:N159S;ENSP00000344441:N121S	ENSP00000298232:N141S	N	-	2	0	TPTE	9966629	0.998000	0.40836	0.447000	0.26932	0.339000	0.28857	4.507000	0.60434	1.303000	0.44873	0.163000	0.16589	AAC		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			20	119	0	0	0	1	0	20	119				
SSRP1	6749	broad.mit.edu	37	11	57095226	57095226	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57095226G>A	ENST00000278412.2	-	14	2008	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V	snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	581					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GATCTCGCCTGCCTTCTTGGA	0.542																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1741-1743)gCa>gTa		structure specific recognition protein 1							174.0	174.0	174.0					11																	57095226		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57095226G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1742C>T	11.37:g.57095226G>A	ENSP00000278412:p.Ala581Val					RP11-872D17.4_ENST00000534162.1_RNA	p.A581V	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			14	2008	-			581					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1742C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994780	0.93167	.	.	ENSG00000149136	ENST00000278412	D	0.97752	-4.52	5.8	4.89	0.63831	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	L	0.27053	0.805	0.80722	D	1	B	0.22746	0.074	B	0.20955	0.032	D	0.91979	0.5593	10	0.44086	T	0.13	.	14.5631	0.68153	0.0709:0.0:0.9291:0.0	.	581	Q08945	SSRP1_HUMAN	V	581	ENSP00000278412:A581V	ENSP00000278412:A581V	A	-	2	0	SSRP1	56851802	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	9.177000	0.94849	1.456000	0.47831	-0.140000	0.14226	GCA		0.542	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		45	65	0	0	0	1	0	45	65				
DUSP21	63904	broad.mit.edu	37	X	44703559	44703559	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44703559G>A	ENST00000339042.4	+	1	311	c.181G>A	c.(181-183)Gta>Ata	p.V61I		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	61	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						AGTGGTCAACGTATTCTTCGA	0.502																																						ENST00000339042.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						c.(181-183)Gta>Ata		dual specificity phosphatase 21							202.0	157.0	172.0					X																	44703559		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703559G>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.181G>A	X.37:g.44703559G>A	ENSP00000343244:p.Val61Ile						p.V61I	NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN			1	311	+			61			Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.181G>A	CCDS14264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.87|11.87	1.767417|1.767417	0.31320|0.31320	.|.	.|.	ENSG00000189037|ENSG00000189037	ENST00000537377|ENST00000339042	.|D	.|0.85484	.|-1.99	3.82|3.82	2.55|2.55	0.30701|0.30701	.|Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|2.244590	.|0.01236	.|N	.|0.008497	T|T	0.74419|0.74419	0.3714|0.3714	L|L	0.28115|0.28115	0.83|0.83	0.20307|0.20307	N|N	0.999914|0.999914	.|P	.|0.45212	.|0.853	.|B	.|0.38106	.|0.265	T|T	0.65307|0.65307	-0.6200|-0.6200	5|10	.|0.22706	.|T	.|0.39	.|.	2.7145|2.7145	0.05183|0.05183	0.6477:0.0:0.1264:0.2259|0.6477:0.0:0.1264:0.2259	.|.	.|61	.|Q9H596	.|DUS21_HUMAN	H|I	60|61	.|ENSP00000343244:V61I	.|ENSP00000343244:V61I	R|V	+|+	2|1	0|0	DUSP21|DUSP21	44588503|44588503	0.395000|0.395000	0.25254|0.25254	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	1.198000|1.198000	0.32223|0.32223	0.633000|0.633000	0.30452|0.30452	-0.361000|-0.361000	0.07541|0.07541	CGT|GTA		0.502	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		41	4	0	0	0	1	0	41	4				
LAMB4	22798	broad.mit.edu	37	7	107756561	107756561	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107756561G>A	ENST00000388781.3	-	3	163	c.80C>T	c.(79-81)gCc>gTc	p.A27V	LAMB4_ENST00000205386.4_Missense_Mutation_p.A27V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A27V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A27V|LAMB4_ENST00000418464.1_Missense_Mutation_p.A27V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	27	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGATGACAGGCACCCCTGTT	0.532																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(79-81)gCc>gTc		laminin, beta 4							129.0	121.0	124.0					7																	107756561		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107756561G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.80C>T	7.37:g.107756561G>A	ENSP00000373433:p.Ala27Val					LAMB4_ENST00000205386.4_Missense_Mutation_p.A27V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A27V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A27V	p.A27V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			3	163	-			27			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.80C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019485	0.54576	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.34072	1.39;1.39;1.41;1.38;1.43	5.69	2.45	0.29901	Laminin, N-terminal (2);	0.283972	0.24786	N	0.035604	T	0.29588	0.0738	L	0.42245	1.32	0.24129	N	0.995771	B	0.15473	0.013	B	0.12156	0.007	T	0.28106	-1.0054	10	0.62326	D	0.03	.	10.3294	0.43814	0.0733:0.2464:0.6803:0.0	.	27	A4D0S4	LAMB4_HUMAN	V	27	ENSP00000205386:A27V;ENSP00000373433:A27V;ENSP00000373432:A27V;ENSP00000402353:A27V;ENSP00000402265:A27V	ENSP00000205386:A27V	A	-	2	0	LAMB4	107543797	0.115000	0.22152	0.368000	0.25939	0.246000	0.25737	0.385000	0.20685	0.619000	0.30197	0.655000	0.94253	GCC		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		30	46	0	0	0	1	0	30	46				
PHLPP2	23035	broad.mit.edu	37	16	71724517	71724517	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71724517G>A	ENST00000568954.1	-	4	892	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R207C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R172C			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	172	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAACTAGGCGCTCAGCCCAC	0.468																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(514-516)Cgc>Tgc		PH domain and leucine rich repeat protein phosphatase 2							121.0	96.0	104.0					16																	71724517		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71724517G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.514C>T	16.37:g.71724517G>A	ENSP00000457991:p.Arg172Cys					PHLPP2_ENST00000356272.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R172C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R172C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R207C	p.R172C			Q6ZVD8	PHLP2_HUMAN			3	1247	-			172			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.514C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523140	0.85600	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.44881	0.91;0.91;0.91	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.63413	-0.6643	10	0.87932	D	0	-12.7759	12.6056	0.56521	0.0:0.0:0.8344:0.1656	.	172;172	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	C	172	ENSP00000353610:R172C;ENSP00000348611:R172C;ENSP00000377159:R172C	ENSP00000348611:R172C	R	-	1	0	PHLPP2	70282018	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.527000	0.73803	2.403000	0.81681	0.655000	0.94253	CGC		0.468	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		27	40	0	0	0	1	0	27	40				
INS-IGF2	723961	broad.mit.edu	37	11	2182031	2182031	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2182031C>T	ENST00000397270.1	-	2	229	c.171G>A	c.(169-171)gaG>gaA	p.E57E	INS_ENST00000250971.3_Silent_p.E57E|INS_ENST00000512523.1_Silent_p.E57E|INS_ENST00000397262.1_Silent_p.E57E|INS_ENST00000381330.4_Silent_p.E57E|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	57						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTCCTCTGCCTCCCGGCGGG	0.657																																						ENST00000397270.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(169-171)gaG>gaA									52.0	57.0	55.0					11																	2182031		2200	4296	6496	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182031C>T	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.171G>A	11.37:g.2182031C>T						INS_ENST00000250971.3_Silent_p.E57E|INS_ENST00000381330.4_Silent_p.E57E|INS_ENST00000512523.1_Silent_p.E57E|INS_ENST00000397262.1_Silent_p.E57E	p.E57E	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	229	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	57					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.171G>A	CCDS41598.1																																																																																				0.657	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		20	26	0	0	0	1	0	20	26				
OGG1	4968	broad.mit.edu	37	3	9796443	9796443	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9796443C>T	ENST00000344629.7	+	4	964	c.621C>T	c.(619-621)taC>taT	p.Y207Y	OGG1_ENST00000449570.2_Silent_p.Y207Y|OGG1_ENST00000349503.5_Silent_p.Y207Y|OGG1_ENST00000302008.8_Silent_p.Y207Y|OGG1_ENST00000302003.7_Silent_p.Y207Y|OGG1_ENST00000302036.7_Silent_p.Y207Y|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000339511.5_Silent_p.Y207Y			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	207					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GTGCCCGTTACGTGAGTGCCA	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000302036.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(619-621)taC>taT	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							52.0	42.0	45.0					3																	9796443		2203	4300	6503	SO:0001819	synonymous_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9796443C>T	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.621C>T	3.37:g.9796443C>T						OGG1_ENST00000349503.5_Silent_p.Y207Y|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Silent_p.Y207Y|OGG1_ENST00000302003.7_Silent_p.Y207Y|OGG1_ENST00000449570.2_Silent_p.Y207Y|OGG1_ENST00000344629.7_Silent_p.Y207Y|OGG1_ENST00000339511.5_Silent_p.Y207Y	p.Y207Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN			4	964	+	Medulloblastoma(99;0.227)		207					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.621C>T	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.453|6.453	0.451682|0.451682	0.12223|0.12223	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000441094	.|.	.|.	.|.	5.78|5.78	-3.71|-3.71	0.04424|0.04424	.|.	.|.	.|.	.|.	.|.	T|T	0.64011|0.64011	0.2560|0.2560	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63834|0.63834	-0.6547|-0.6547	4|4	.|.	.|.	.|.	-17.0356|-17.0356	14.7973|14.7973	0.69886|0.69886	0.0:0.2404:0.0:0.7596|0.0:0.2404:0.0:0.7596	.|.	.|.	.|.	.|.	C|M	113|105	.|.	.|.	R|T	+|+	1|2	0|0	OGG1|OGG1	9771443|9771443	0.100000|0.100000	0.21855|0.21855	0.942000|0.942000	0.38095|0.38095	0.554000|0.554000	0.35429|0.35429	-0.531000|-0.531000	0.06171|0.06171	-0.627000|-0.627000	0.05589|0.05589	-0.966000|-0.966000	0.02617|0.02617	CGT|ACG		0.622	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		8	14	0	0	0	1	0	8	14				
SEC24A	10802	broad.mit.edu	37	5	134056760	134056760	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134056760G>A	ENST00000398844.2	+	21	3331	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1015					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAAACTATGCATCAATTCC	0.343																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(3043-3045)Gca>Aca		SEC24 family member A							96.0	90.0	92.0					5																	134056760		1812	4083	5895	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134056760G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3043G>A	5.37:g.134056760G>A	ENSP00000381823:p.Ala1015Thr						p.A1015T	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3331	+			1015					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.3043G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644141	0.67244	.	.	ENSG00000113615	ENST00000398844	T	0.57595	0.39	5.45	5.45	0.79879	Gelsolin domain (1);	0.324149	0.31279	N	0.007937	T	0.52224	0.1721	L	0.58302	1.8	0.80722	D	1	B;B	0.17852	0.007;0.024	B;B	0.15052	0.008;0.012	T	0.45716	-0.9242	10	0.28530	T	0.3	-9.3616	19.2912	0.94100	0.0:0.0:1.0:0.0	.	779;1015	B4E205;O95486	.;SC24A_HUMAN	T	1015	ENSP00000381823:A1015T	ENSP00000381823:A1015T	A	+	1	0	SEC24A	134084659	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.841000	0.75374	2.555000	0.86185	0.591000	0.81541	GCA		0.343	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			9	46	0	0	0	1	0	9	46				
KLHDC10	23008	broad.mit.edu	37	7	129769308	129769308	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129769308G>T	ENST00000335420.5	+	9	1145	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	337						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ATAATGGAGAGGTGATCCTGG	0.433																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(1009-1011)gaG>gaT		kelch domain containing 10							138.0	133.0	135.0					7																	129769308		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129769308G>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.1011G>T	7.37:g.129769308G>T	ENSP00000334140:p.Glu337Asp						p.E337D	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			9	1145	+			337					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.1011G>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695079	0.30052	.	.	ENSG00000128607	ENST00000335420	T	0.60920	0.15	5.43	1.43	0.22495	Galactose oxidase, beta-propeller (1);	0.094686	0.64402	D	0.000001	T	0.42404	0.1201	L	0.31065	0.9	0.46149	D	0.998894	P;B;D	0.53619	0.662;0.255;0.961	B;B;P	0.45753	0.301;0.144;0.492	T	0.23332	-1.0191	10	0.11794	T	0.64	-21.1701	9.682	0.40076	0.5785:0.0:0.4215:0.0	.	186;194;337	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	D	337	ENSP00000334140:E337D	ENSP00000334140:E337D	E	+	3	2	KLHDC10	129556544	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.017000	0.40981	0.055000	0.16094	-0.218000	0.12543	GAG		0.433	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			38	66	1	0	2.2871e-25	1	2.55332e-25	38	66				
FAM109A	144717	broad.mit.edu	37	12	111801181	111801181	+	Silent	SNP	C	C	T	rs574399710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111801181C>T	ENST00000547838.2	-	2	148	c.51G>A	c.(49-51)ccG>ccA	p.P17P	FAM109A_ENST00000361483.3_Silent_p.P30P|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000548163.1_Silent_p.P17P|FAM109A_ENST00000392658.5_Silent_p.P17P			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CATTGTCCACCGGGGCGTCAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16251	0.001		0.0	False		,,,				2504	0.0					ENST00000361483.3																			0				breast(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(88-90)ccG>ccA		family with sequence similarity 109, member A							20.0	22.0	22.0					12																	111801181		2201	4294	6495	SO:0001819	synonymous_variant	144717				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr12:111801181C>T	BC034809	CCDS9152.1, CCDS53833.1	12q24.12	2013-01-10			ENSG00000198324	ENSG00000198324		"""Pleckstrin homology (PH) domain containing"""	26509	protein-coding gene	gene with protein product		614239				12477932	Standard	NM_144671		Approved	FLJ32356	uc009zvu.3	Q8N4B1	OTTHUMG00000169547	ENST00000547838.2:c.51G>A	12.37:g.111801181C>T						FAM109A_ENST00000548163.1_Silent_p.P17P|FAM109A_ENST00000392658.5_Silent_p.P17P|FAM109A_ENST00000450786.2_5'UTR|FAM109A_ENST00000547838.2_Silent_p.P17P	p.P30P	NM_001177996.1	NP_001171467.1	Q8N4B1	SESQ1_HUMAN			4	529	-			17			PH.		J3KP50|Q6PJL9|Q96MH8	Silent	SNP	ENST00000547838.2	37	c.90G>A	CCDS9152.1																																																																																				0.657	FAM109A-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404768.2	NM_144671		8	7	0	0	0	1	0	8	7				
PLXNB3	5365	broad.mit.edu	37	X	153035310	153035310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153035310G>A	ENST00000361971.5	+	7	1659	c.1545G>A	c.(1543-1545)tgG>tgA	p.W515*	PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.W168*|PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.W125*|PLXNB3_ENST00000538966.1_Nonsense_Mutation_p.W538*|PLXNB3_ENST00000538543.1_Nonsense_Mutation_p.W65*	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	515	PSI 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAACCAGTGGCTGTGGAGTT	0.677																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1612-1614)tgG>tgA		plexin B3							18.0	16.0	17.0					X																	153035310		2172	4265	6437	SO:0001587	stop_gained	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035310G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1545G>A	X.37:g.153035310G>A	ENSP00000355378:p.Trp515*					PLXNB3_ENST00000538282.1_Nonsense_Mutation_p.W125*|PLXNB3_ENST00000361971.5_Nonsense_Mutation_p.W515*|PLXNB3_ENST00000538776.1_Nonsense_Mutation_p.W168*|PLXNB3_ENST00000538543.1_Nonsense_Mutation_p.W65*	p.W538*	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			8	1885	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		515					B7Z3E6|F5H773|Q9HDA4	Nonsense_Mutation	SNP	ENST00000361971.5	37	c.1614G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656329	0.88056	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	.	.	.	4.95	4.95	0.65309	.	0.251825	0.43260	D	0.000592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9555	0.41663	0.0:0.0:0.7977:0.2023	.	.	.	.	X	538;515;168;65;125	.	ENSP00000355378:W515X	W	+	3	0	PLXNB3	152688504	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	4.584000	0.60971	2.025000	0.59659	0.600000	0.82982	TGG		0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			11	3	0	0	0	1	0	11	3				
ENO1	2023	broad.mit.edu	37	1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A	rs369657785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(220-222)gCg>gTg		enolase 1, (alpha)							94.0	82.0	86.0					1																	8930530		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8930530G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.221C>T	1.37:g.8930530G>A	ENSP00000234590:p.Ala74Val						p.A74V	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	4	340	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	74					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.221C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677741	0.68042	.	.	ENSG00000074800	ENST00000234590	T	0.33654	1.4	5.92	5.01	0.66863	Enolase, N-terminal (1);	0.155281	0.56097	D	0.000022	T	0.49338	0.1551	M	0.86343	2.81	0.51233	D	0.99991	B;B	0.32731	0.382;0.038	B;B	0.35770	0.21;0.018	T	0.55471	-0.8136	10	0.51188	T	0.08	-7.4396	16.2936	0.82761	0.0:0.1323:0.8677:0.0	.	41;74	A4UCS8;P06733	.;ENOA_HUMAN	V	74	ENSP00000234590:A74V	ENSP00000234590:A74V	A	-	2	0	ENO1	8853117	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	6.761000	0.74945	1.509000	0.48786	0.650000	0.86243	GCG		0.458	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		11	31	0	0	0	1	0	11	31				
JUN	3725	broad.mit.edu	37	1	59247825	59247825	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:59247825T>C	ENST00000371222.2	-	1	1960	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	306	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	GTTTAAGCTGTGCCACCTGTT	0.527			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(916-918)gcA>gcG		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						137.0	134.0	135.0					1																	59247825		2203	4300	6503	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59247825T>C	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.918A>G	1.37:g.59247825T>C			OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1037		p.A306A	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1960	-	all_cancers(7;8.55e-07)		306			Leucine-zipper.		Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.918A>G	CCDS610.1																																																																																				0.527	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		13	84	0	0	0	1	0	13	84				
NT5C1B	93034	broad.mit.edu	37	2	18757550	18757550	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:18757550G>A	ENST00000359846.2	-	9	1486	c.1409C>T	c.(1408-1410)gCt>gTt	p.A470V	NT5C1B_ENST00000304081.4_Missense_Mutation_p.A410V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A470V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A470V	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	470					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAAGAGGACAGCATCCCCATC	0.458																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(1228-1230)gCt>gTt		5'-nucleotidase, cytosolic IB							115.0	102.0	107.0					2																	18757550		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18757550G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1409C>T	2.37:g.18757550G>A	ENSP00000352904:p.Ala470Val					NT5C1B_ENST00000359846.2_Missense_Mutation_p.A470V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.A470V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.A470V	p.A410V	NM_033253.3	NP_150278.2					8	1329	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1229C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544490	0.96488	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91945	-2.94	5.33	5.33	0.75918	.	0.046467	0.85682	D	0.000000	D	0.96580	0.8884	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D;D	0.71674	0.988;0.988;0.988;0.998;0.993;0.985;0.988;0.998	D;D;D;D;D;D;D;D	0.71184	0.951;0.951;0.951;0.953;0.934;0.918;0.951;0.972	D	0.96792	0.9583	10	0.66056	D	0.02	-16.1879	19.3779	0.94518	0.0:0.0:1.0:0.0	.	453;487;410;453;412;410;470;470	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	V	470;412;410;470	ENSP00000412639:A412V	ENSP00000305979:A410V	A	-	2	0	NT5C1B-RDH14;NT5C1B	18621031	1.000000	0.71417	0.730000	0.30809	0.996000	0.88848	9.789000	0.99068	2.654000	0.90174	0.655000	0.94253	GCT		0.458	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			4	41	0	0	0	1	0	4	41				
SPEN	23013	broad.mit.edu	37	1	16265255	16265255	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16265255C>T	ENST00000375759.3	+	14	10951	c.10747C>T	c.(10747-10749)Cgt>Tgt	p.R3583C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3583	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCTGTGGCCGTGACCAAGA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10747-10749)Cgt>Tgt		spen family transcriptional repressor							72.0	56.0	61.0					1																	16265255		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265255C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10747C>T	1.37:g.16265255C>T	ENSP00000364912:p.Arg3583Cys						p.R3583C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	14	10951	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3583			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10747C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638059	0.47153	.	.	ENSG00000065526	ENST00000375759	T	0.10960	2.82	5.41	4.49	0.54785	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.34832	0.0911	M	0.78223	2.4	0.58432	D	0.999993	D	0.76494	0.999	D	0.80764	0.994	T	0.22836	-1.0205	9	0.62326	D	0.03	-11.3053	16.1671	0.81777	0.0:0.8663:0.1337:0.0	.	3583	Q96T58	MINT_HUMAN	C	3583	ENSP00000364912:R3583C	ENSP00000364912:R3583C	R	+	1	0	SPEN	16137842	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	4.497000	0.60367	1.259000	0.44117	0.655000	0.94253	CGT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	22	0	0	0	1	0	9	22				
LRRTM3	347731	broad.mit.edu	37	10	68687414	68687414	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68687414C>T	ENST00000361320.4	+	2	1318	c.740C>T	c.(739-741)aCc>aTc	p.T247I	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	247					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATAGGACAGACCATGTCCTGG	0.463																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(739-741)aCc>aTc		leucine rich repeat transmembrane neuronal 3							78.0	81.0	80.0					10																	68687414		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687414C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.740C>T	10.37:g.68687414C>T	ENSP00000355187:p.Thr247Ile					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.T247I	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1318	+			247					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.740C>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801575	0.50315	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.57907	0.37	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	T	0.64159	0.2573	L	0.54863	1.705	0.54753	D	0.999988	P;P	0.51057	0.941;0.927	P;P	0.54210	0.745;0.628	T	0.65475	-0.6159	10	0.72032	D	0.01	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	247;247	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	I	247	ENSP00000355187:T247I	ENSP00000355187:T247I	T	+	2	0	LRRTM3	68357420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.230000	0.65321	2.711000	0.92665	0.650000	0.86243	ACC		0.463	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		40	37	0	0	0	1	0	40	37				
NSMCE2	286053	broad.mit.edu	37	8	126163439	126163439	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:126163439G>A	ENST00000287437.3	+	4	400	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NSMCE2_ENST00000522563.1_Missense_Mutation_p.D62N|NSMCE2_ENST00000517315.1_Missense_Mutation_p.D2N	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	62					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ATATAGTATGGACAAGGCAAT	0.318																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(184-186)Gac>Aac		non-SMC element 2, MMS21 homolog (S. cerevisiae)							174.0	169.0	170.0					8																	126163439		2203	4299	6502	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126163439G>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.184G>A	8.37:g.126163439G>A	ENSP00000287437:p.Asp62Asn					NSMCE2_ENST00000517315.1_Missense_Mutation_p.D2N|NSMCE2_ENST00000522563.1_Missense_Mutation_p.D62N	p.D62N	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		4	400	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		62					Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.184G>A	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481648	0.63849	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.62	5.62	0.85841	.	0.136384	0.47455	D	0.000231	T	0.43765	0.1262	L	0.54323	1.7	0.38917	D	0.957661	P;P	0.39665	0.682;0.651	B;B	0.40329	0.326;0.15	T	0.47394	-0.9121	10	0.56958	D	0.05	.	15.5185	0.75846	0.0:0.0:1.0:0.0	.	62;62	Q96MF7;E5RHW9	NSE2_HUMAN;.	N	62;62;62;62;2	ENSP00000429383:D62N;ENSP00000429612:D62N;ENSP00000287437:D62N;ENSP00000430668:D62N;ENSP00000428846:D2N	ENSP00000287437:D62N	D	+	1	0	NSMCE2	126232621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.431000	0.59915	2.818000	0.97014	0.655000	0.94253	GAC		0.318	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		62	110	0	0	0	1	0	62	110				
ERMARD	55780	broad.mit.edu	37	6	170181436	170181436	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170181436T>C	ENST00000366773.3	+	18	1897	c.1864T>C	c.(1864-1866)Tcg>Ccg	p.S622P	ERMARD_ENST00000418781.3_Missense_Mutation_p.S549P|ERMARD_ENST00000366772.2_Missense_Mutation_p.S575P|ERMARD_ENST00000392095.4_Missense_Mutation_p.S496P|ERMARD_ENST00000588451.1_Missense_Mutation_p.S486P	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	622					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GTTTGTAAAGTCGATCTTGCA	0.313																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1456-1458)Tcg>Ccg									67.0	61.0	63.0					6																	170181436		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170181436T>C	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1864T>C	6.37:g.170181436T>C	ENSP00000355735:p.Ser622Pro					C6orf70_ENST00000366772.2_Missense_Mutation_p.S575P|C6orf70_ENST00000418781.3_Missense_Mutation_p.S549P|C6orf70_ENST00000392095.4_Missense_Mutation_p.S496P|C6orf70_ENST00000366773.3_Missense_Mutation_p.S622P	p.S486P			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	1969	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	622					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1456T>C	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767416	0.49574	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.50813	0.74;0.73	5.3	2.73	0.32206	.	0.531582	0.16008	N	0.233954	T	0.29914	0.0748	L	0.32530	0.975	0.24157	N	0.995673	D;P;D	0.59767	0.986;0.899;0.966	P;P;P	0.57152	0.814;0.667;0.691	T	0.07751	-1.0756	10	0.46703	T	0.11	.	6.7266	0.23361	0.0:0.0799:0.1524:0.7677	.	575;549;622	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	P	622;575;549;496;270	ENSP00000355735:S622P;ENSP00000375945:S496P	ENSP00000355733:S270P	S	+	1	0	C6orf70	169923361	0.983000	0.35010	0.153000	0.22517	0.506000	0.33950	2.128000	0.42045	0.261000	0.21753	0.459000	0.35465	TCG		0.313	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		10	29	0	0	0	1	0	10	29				
HEPN1	641654	broad.mit.edu	37	11	124789867	124789867	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124789867T>C	ENST00000408930.5	+	1	722	c.221T>C	c.(220-222)gTc>gCc	p.V74A	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	74						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	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;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CATGGGCATGTCCTGGCTACA	0.517																																						ENST00000408930.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(220-222)gTc>gCc		hepatocellular carcinoma, down-regulated 1							78.0	78.0	78.0					11																	124789867		1937	4148	6085	SO:0001583	missense	641654					cytoplasm		g.chr11:124789867T>C	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.221T>C	11.37:g.124789867T>C	ENSP00000386143:p.Val74Ala					HEPACAM_ENST00000298251.4_3'UTR	p.V74A	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	722	+	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)	74						Missense_Mutation	SNP	ENST00000408930.5	37	c.221T>C	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	T	5.193	0.221140	0.09863	.	.	ENSG00000221932	ENST00000408930	T	0.55234	0.53	4.0	0.732	0.18283	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.34527	-0.9825	8	0.87932	D	0	.	6.7313	0.23385	0.0:0.1686:0.4695:0.3619	.	74	Q6WQI6	HEPN1_HUMAN	A	74	ENSP00000386143:V74A	ENSP00000386143:V74A	V	+	2	0	HEPN1	124295077	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.210000	0.17455	0.035000	0.15519	-0.659000	0.03860	GTC		0.517	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		32	41	0	0	0	1	0	32	41				
ZMYM5	9205	broad.mit.edu	37	13	20399047	20399047	+	Missense_Mutation	SNP	C	C	T	rs573943099	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20399047C>T	ENST00000337963.4	-	8	1844	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	527						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		attcaaaattcggggccacgt	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17601	0.0		0.0	False		,,,				2504	0.0					ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1579-1581)cGa>cAa		zinc finger, MYM-type 5							37.0	34.0	35.0					13																	20399047		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20399047C>T	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1580G>A	13.37:g.20399047C>T	ENSP00000337034:p.Arg527Gln						p.R527Q	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	1844	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	527					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1580G>A		.	.	.	.	.	.	.	.	.	.	C	16.23	3.064131	0.55432	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.17054	2.3;2.3	2.62	2.62	0.31277	.	0.064345	0.64402	U	0.000007	T	0.24431	0.0592	L	0.36672	1.1	0.23981	N	0.996279	D	0.76494	0.999	D	0.74023	0.982	T	0.05699	-1.0869	10	0.20519	T	0.43	.	8.8908	0.35432	0.0:1.0:0.0:0.0	.	527	Q9UJ78	ZMYM5_HUMAN	Q	527;517	ENSP00000337034:R527Q;ENSP00000445779:R517Q	ENSP00000337034:R527Q	R	-	2	0	ZMYM5	19297047	0.933000	0.31639	0.592000	0.28758	0.971000	0.66376	2.769000	0.47654	1.749000	0.51849	0.305000	0.20034	CGA		0.388	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	13	0	0	0	1	0	7	13				
TSPYL6	388951	broad.mit.edu	37	2	54483161	54483161	+	Missense_Mutation	SNP	C	C	T	rs537805712		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54483161C>T	ENST00000317802.7	-	1	248	c.128G>A	c.(127-129)cGc>cAc	p.R43H	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	43					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGGCTCCAAGCGGCCATCAAA	0.602																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(127-129)cGc>cAc		TSPY-like 6							80.0	91.0	88.0					2																	54483161		1949	4134	6083	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54483161C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.128G>A	2.37:g.54483161C>T	ENSP00000417919:p.Arg43His					ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	p.R43H	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	248	-			43					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.128G>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651441	0.29336	.	.	ENSG00000178021	ENST00000317802	T	0.25579	1.79	1.22	1.22	0.21188	.	.	.	.	.	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	P	0.51791	0.948	B	0.34489	0.184	T	0.17228	-1.0376	9	0.62326	D	0.03	.	5.8257	0.18552	0.0:1.0:0.0:0.0	.	43	Q8N831	TSYL6_HUMAN	H	43	ENSP00000417919:R43H	ENSP00000417919:R43H	R	-	2	0	TSPYL6	54336665	0.048000	0.20356	0.123000	0.21794	0.008000	0.06430	0.399000	0.20916	0.968000	0.38212	0.467000	0.42956	CGC		0.602	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		24	51	0	0	0	1	0	24	51				
IGFBPL1	347252	broad.mit.edu	37	9	38414122	38414122	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:38414122G>A	ENST00000377694.1	-	2	561	c.539C>T	c.(538-540)gCt>gTt	p.A180V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	180	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GGTAGGCACAGCCCTCACTTC	0.557																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(538-540)gCt>gTt		insulin-like growth factor binding protein-like 1							139.0	114.0	122.0					9																	38414122		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38414122G>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.539C>T	9.37:g.38414122G>A	ENSP00000366923:p.Ala180Val						p.A180V	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	2	561	-			180			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.539C>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688767	0.88639	.	.	ENSG00000137142	ENST00000377694	T	0.68025	-0.3	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	U	0.000531	T	0.81842	0.4908	M	0.83852	2.665	0.39758	D	0.971985	D	0.71674	0.998	D	0.69824	0.966	D	0.85559	0.1226	10	0.87932	D	0	-0.008	13.8611	0.63561	0.0:0.0:1.0:0.0	.	180	Q8WX77	IBPL1_HUMAN	V	180	ENSP00000366923:A180V	ENSP00000366923:A180V	A	-	2	0	IGFBPL1	38404122	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.289000	0.51747	2.339000	0.79563	0.563000	0.77884	GCT		0.557	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		16	30	0	0	0	1	0	16	30				
MYO19	80179	broad.mit.edu	37	17	34863649	34863649	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34863649G>A	ENST00000431794.3	-	15	1868	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	449	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACCTGCTGGGCCCTTAGGTA	0.512																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1345-1347)gCc>gTc		myosin XIX							58.0	60.0	60.0					17																	34863649		2137	4268	6405	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34863649G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1346C>T	17.37:g.34863649G>A	ENSP00000409936:p.Ala449Val					MYO19_ENST00000268852.9_Intron	p.A449V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	15	1868	-		Breast(25;0.00957)|Ovarian(249;0.17)	449			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1346C>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057557	0.36277	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.95205	-3.64	5.76	4.8	0.61643	Myosin head, motor domain (2);	.	.	.	.	D	0.92883	0.7736	L	0.49256	1.55	0.80722	D	1	P	0.43094	0.799	B	0.43536	0.423	D	0.92959	0.6387	9	0.72032	D	0.01	.	13.3906	0.60823	0.076:0.0:0.924:0.0	.	449	Q96H55	MYO19_HUMAN	V	184;449	ENSP00000409936:A449V	ENSP00000397134:A184V	A	-	2	0	MYO19	31937762	1.000000	0.71417	0.068000	0.19968	0.965000	0.64279	6.141000	0.71744	1.450000	0.47717	0.655000	0.94253	GCC		0.512	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		9	6	0	0	0	1	0	9	6				
SLC44A4	80736	broad.mit.edu	37	6	31838427	31838427	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31838427C>T	ENST00000229729.6	-	11	1010	c.990G>A	c.(988-990)ctG>ctA	p.L330L	SLC44A4_ENST00000544672.1_Silent_p.L254L|SLC44A4_ENST00000375562.4_Silent_p.L288L	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	330					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCCGCTGCCGCAGGAAGATGA	0.632																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(760-762)ctG>ctA		solute carrier family 44, member 4	Choline(DB00122)						38.0	26.0	30.0					6																	31838427		1508	2708	4216	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31838427C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.990G>A	6.37:g.31838427C>T						SLC44A4_ENST00000229729.6_Silent_p.L330L|SLC44A4_ENST00000375562.4_Silent_p.L288L	p.L254L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			11	1058	-			330					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.762G>A	CCDS4724.2																																																																																				0.632	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			8	3	0	0	0	1	0	8	3				
ZNF281	23528	broad.mit.edu	37	1	200377419	200377419	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200377419C>T	ENST00000294740.3	-	2	1539	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	ZNF281_ENST00000367353.1_Missense_Mutation_p.R472K|ZNF281_ENST00000367352.3_Missense_Mutation_p.R436K	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	472					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGTATTCTTTCTGCTTCCTTT	0.413																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1414-1416)aGa>aAa		zinc finger protein 281							113.0	107.0	109.0					1																	200377419		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377419C>T	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1415G>A	1.37:g.200377419C>T	ENSP00000294740:p.Arg472Lys					ZNF281_ENST00000367352.3_Missense_Mutation_p.R436K|ZNF281_ENST00000367353.1_Missense_Mutation_p.R472K	p.R472K	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1539	-			472					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1415G>A	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384589	0.82792	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.09445	2.98;2.98;2.98	5.79	5.79	0.91817	.	0.107942	0.64402	D	0.000013	T	0.32645	0.0836	M	0.61703	1.905	0.58432	D	0.999991	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.00216	-1.1910	10	0.40728	T	0.16	-6.2858	20.0474	0.97616	0.0:1.0:0.0:0.0	.	436;472	A6NF48;Q9Y2X9	.;ZN281_HUMAN	K	472;472;436;177	ENSP00000294740:R472K;ENSP00000356322:R472K;ENSP00000356321:R436K	ENSP00000294740:R472K	R	-	2	0	ZNF281	198644042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.452000	0.80683	2.722000	0.93159	0.655000	0.94253	AGA		0.413	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		25	32	0	0	0	1	0	25	32				
INTS7	25896	broad.mit.edu	37	1	212115317	212115317	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212115317G>A	ENST00000366994.3	-	20	2842	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	INTS7_ENST00000366993.3_Missense_Mutation_p.A899V|INTS7_ENST00000440600.2_Missense_Mutation_p.A864V|INTS7_ENST00000366992.3_Missense_Mutation_p.A893V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	913					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TATACCATTGGCATCTTTCAC	0.408																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2737-2739)gCc>gTc		integrator complex subunit 7							165.0	162.0	163.0					1																	212115317		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115317G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2738C>T	1.37:g.212115317G>A	ENSP00000355961:p.Ala913Val					INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.A899V|INTS7_ENST00000366992.3_Missense_Mutation_p.A893V|INTS7_ENST00000440600.2_Missense_Mutation_p.A864V	p.A913V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2842	-			913					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2738C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715955	0.48622	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.44083	0.94;0.94;0.93;0.94	5.86	5.86	0.93980	.	0.258279	0.45361	D	0.000365	T	0.28599	0.0708	N	0.14661	0.345	0.32124	N	0.587659	B;B;B;B	0.15473	0.013;0.013;0.013;0.013	B;B;B;B	0.16289	0.015;0.015;0.015;0.015	T	0.23476	-1.0187	10	0.41790	T	0.15	-20.8476	14.344	0.66646	0.0704:0.0:0.9295:0.0	.	864;893;899;913	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	913;899;893;864	ENSP00000355961:A913V;ENSP00000355960:A899V;ENSP00000355959:A893V;ENSP00000388908:A864V	ENSP00000355959:A893V	A	-	2	0	INTS7	210181940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.166000	0.50785	2.778000	0.95560	0.655000	0.94253	GCC		0.408	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		29	58	0	0	0	1	0	29	58				
PROC	5624	broad.mit.edu	37	2	128186435	128186435	+	Silent	SNP	C	C	T	rs151319700		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128186435C>T	ENST00000234071.3	+	9	1386	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	PROC_ENST00000422777.3_Silent_p.G433G|PROC_ENST00000453608.2_Silent_p.G488G|PROC_ENST00000409048.1_Silent_p.G467G	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	433	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> S (in patients with PROC deficiency; Purmerend).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAACTACGGCGTTTACACCA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16923	0.0		0.001	False		,,,				2504	0.0					ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1462-1464)ggC>ggT		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	C		0,4406		0,0,2203	91.0	96.0	94.0		1299	-3.6	0.0	2	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PROC	NM_000312.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		433/462	128186435	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186435C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1299C>T	2.37:g.128186435C>T						PROC_ENST00000422777.3_Silent_p.G433G|PROC_ENST00000409048.1_Silent_p.G467G|PROC_ENST00000234071.3_Silent_p.G433G	p.G488G			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1472	+	Colorectal(110;0.1)		433					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.1464C>T	CCDS2145.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.934	0.356335	0.11239	0.0	4.65E-4	ENSG00000115718	ENST00000402125	.	.	.	5.16	-3.62	0.04543	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29971	-0.9994	4	.	.	.	.	2.56	0.04770	0.1293:0.1921:0.1742:0.5044	.	.	.	.	V	208	.	.	A	+	2	0	PROC	127902905	0.001000	0.12720	0.035000	0.18076	0.893000	0.52053	-0.577000	0.05847	-1.060000	0.03189	-0.982000	0.02568	GCG		0.637	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		35	66	0	0	0	1	0	35	66				
CKMT2	1160	broad.mit.edu	37	5	80550292	80550292	+	Silent	SNP	G	G	A	rs146777847	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80550292G>A	ENST00000424301.2	+	5	667	c.429G>A	c.(427-429)acG>acA	p.T143T	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Silent_p.T143T|CKMT2_ENST00000254035.4_Silent_p.T143T|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	143					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)			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)	AGCACACAACGGATCTGGATG	0.572													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18565	0.0		0.0	False		,,,				2504	0.0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(427-429)acG>acA		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)	G	,,	32,4374	36.8+/-68.6	0,32,2171	148.0	133.0	138.0		429,429,429	-11.2	0.2	5	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CKMT2	NM_001099735.1,NM_001099736.1,NM_001825.2	,,	0,32,6471	AA,AG,GG		0.0,0.7263,0.246	,,	143/420,143/420,143/420	80550292	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80550292G>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.429G>A	5.37:g.80550292G>A						CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.T143T|CKMT2_ENST00000437669.1_Silent_p.T143T|CTC-281B15.1_ENST00000503483.2_RNA	p.T143T	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	5	667	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	143					Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.429G>A	CCDS4053.1																																																																																				0.572	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		13	26	0	0	0	1	0	13	26				
ZNF106	64397	broad.mit.edu	37	15	42740885	42740885	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42740885T>C	ENST00000263805.4	-	3	2777	c.2451A>G	c.(2449-2451)gtA>gtG	p.V817V	ZNF106_ENST00000565380.1_Silent_p.V45V|ZNF106_ENST00000565611.1_Silent_p.V2V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	817					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAACAAGGGGTACCATTTCTA	0.408																																						ENST00000263805.4																			0											c.(2449-2451)gtA>gtG		zinc finger protein 106							39.0	40.0	40.0					15																	42740885		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42740885T>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2451A>G	15.37:g.42740885T>C						ZNF106_ENST00000565611.1_Silent_p.V2V|ZNF106_ENST00000565380.1_Silent_p.V45V	p.V817V	NM_022473.1	NP_071918.1					3	2777	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.2451A>G	CCDS32208.1																																																																																				0.408	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		13	26	0	0	0	1	0	13	26				
ITIH4	3700	broad.mit.edu	37	3	52850920	52850920	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52850920C>T	ENST00000266041.4	-	21	2547	c.2451G>A	c.(2449-2451)acG>acA	p.T817T	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.T787T|ITIH4_ENST00000485816.1_Silent_p.T822T|ITIH4_ENST00000346281.5_Silent_p.T801T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	817				ET -> QR (in Ref. 8; AA sequence). {ECO:0000305}.	acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGAGAATAGCGTCTCCTTCC	0.587																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2449-2451)acG>acA		inter-alpha-trypsin inhibitor heavy chain family, member 4							166.0	172.0	170.0					3																	52850920		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850920C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2451G>A	3.37:g.52850920C>T						ITIH4_ENST00000346281.5_Silent_p.T801T|ITIH4_ENST00000406595.1_Silent_p.T787T|ITIH4_ENST00000485816.1_Silent_p.T822T	p.T817T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2547	-			817	ET -> QR (in Ref. 5; AA sequence).				B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.2451G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667836	0.14710	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.13200	0.0320	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11060	-1.0603	4	.	.	.	-21.8597	0.9561	0.01386	0.1803:0.1949:0.2669:0.358	.	.	.	.	T	606	.	.	A	-	1	0	ITIH4	52825960	0.000000	0.05858	0.004000	0.12327	0.905000	0.53344	-5.465000	0.00120	-2.434000	0.00554	-0.258000	0.10820	GCT		0.587	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		53	78	0	0	0	1	0	53	78				
NFIB	4781	broad.mit.edu	37	9	14125766	14125766	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:14125766C>A	ENST00000380959.3	-	7	1399		c.e7-1		NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GAAGACATATCTGCGAGAAAC	0.428			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.e7-1		nuclear factor I/B							85.0	85.0	85.0					9																	14125766		2203	4300	6503	SO:0001630	splice_region_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14125766C>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.926-1G>T	9.37:g.14125766C>A						NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000397579.2_Splice_Site		NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	7	1399	-								G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Splice_Site	SNP	ENST00000380959.3	37		CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389890	0.82902	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8437	0.96701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFIB	14115766	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.241000	0.78201	2.693000	0.91896	0.585000	0.79938	.		0.428	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	Intron	23	35	1	0	2.89027e-11	1	3.10618e-11	23	35				
LRIG1	26018	broad.mit.edu	37	3	66430821	66430821	+	Missense_Mutation	SNP	C	C	T	rs57929900		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66430821C>T	ENST00000273261.3	-	19	3672	c.3148G>A	c.(3148-3150)Gcg>Acg	p.A1050T	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A1027T|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1050					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGGGCTTCCGCGCGCTCTGGA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.0					ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(3079-3081)Gcg>Acg		leucine-rich repeats and immunoglobulin-like domains 1		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	112.0	112.0	112.0		3148	-9.4	0.0	3	dbSNP_129	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRIG1	NM_015541.2	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	1050/1094	66430821	3,13003	2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66430821C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3148G>A	3.37:g.66430821C>T	ENSP00000273261:p.Ala1050Thr					LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A1050T	p.A1027T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	20	3682	-		Lung NSC(201;0.0101)	1050					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.3079G>A	CCDS33783.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.942	-0.709103	0.03230	4.54E-4	1.16E-4	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.65364	-0.15;-0.14	4.72	-9.44	0.00603	.	1.800750	0.02748	N	0.117067	T	0.32346	0.0826	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36578	-0.9742	10	0.06236	T	0.91	.	9.9996	0.41920	0.0:0.2981:0.5386:0.1632	rs57929900	1027;1050;1050	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	1050;1027;953	ENSP00000273261:A1050T;ENSP00000373208:A1027T	ENSP00000273261:A1050T	A	-	1	0	LRIG1	66513511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.978000	0.03778	-2.853000	0.00330	-1.986000	0.00452	GCG		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		4	91	0	0	0	1	0	4	91				
CDC42BPB	9578	broad.mit.edu	37	14	103410511	103410511	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103410511G>A	ENST00000361246.2	-	30	4413	c.4125C>T	c.(4123-4125)agC>agT	p.S1375S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCACTGCACGCTGCCGGGAG	0.587																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4123-4125)agC>agT		CDC42 binding protein kinase beta (DMPK-like)							59.0	59.0	59.0					14																	103410511		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103410511G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4125C>T	14.37:g.103410511G>A							p.S1375S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	30	4413	-		Melanoma(154;0.155)	1375			CNH.			Silent	SNP	ENST00000361246.2	37	c.4125C>T	CCDS9978.1																																																																																				0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		16	33	0	0	0	1	0	16	33				
TULP4	56995	broad.mit.edu	37	6	158902117	158902117	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158902117G>T	ENST00000367097.3	+	8	2639	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	TULP4_ENST00000367094.2_Missense_Mutation_p.D428Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	428					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAACATGAGAGACTTTGTCAG	0.582																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1282-1284)Gac>Tac		tubby like protein 4							74.0	77.0	76.0					6																	158902117		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902117G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1282G>T	6.37:g.158902117G>T	ENSP00000356064:p.Asp428Tyr					TULP4_ENST00000367094.2_Missense_Mutation_p.D428Y	p.D428Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2639	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	428					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1282G>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835972	0.91117	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62941	-0.01;-0.01	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.956;0.998;0.999	T	0.75300	-0.3366	10	0.87932	D	0	-36.5513	18.9788	0.92747	0.0:0.0:1.0:0.0	.	428;428;428	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	Y	428	ENSP00000356064:D428Y;ENSP00000356061:D428Y	ENSP00000356061:D428Y	D	+	1	0	TULP4	158822105	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.326000	0.79133	2.491000	0.84063	0.561000	0.74099	GAC		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		24	30	1	0	2.41591e-17	1	2.65831e-17	24	30				
WDR25	79446	broad.mit.edu	37	14	100992319	100992319	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100992319G>A	ENST00000335290.6	+	5	1440	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	WDR25_ENST00000542471.2_Missense_Mutation_p.R148H|WDR25_ENST00000402312.3_Missense_Mutation_p.R405H|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000554998.1_Missense_Mutation_p.R405H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	405										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCAGCTGACCGCACCATTATT	0.542																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1213-1215)cGc>cAc		WD repeat domain 25							72.0	65.0	67.0					14																	100992319		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100992319G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1214G>A	14.37:g.100992319G>A	ENSP00000334148:p.Arg405His					WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000542471.2_Missense_Mutation_p.R148H|WDR25_ENST00000554998.1_Missense_Mutation_p.R405H|WDR25_ENST00000402312.3_Missense_Mutation_p.R405H	p.R405H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			5	1440	+		Melanoma(154;0.212)	405					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.1214G>A	CCDS32157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.4|24.4	4.531927|4.531927	0.85706|0.85706	.|.	.|.	ENSG00000176473|ENSG00000176473	ENST00000555201|ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	.|T;T;T;T	.|0.01359	.|4.98;4.98;4.98;4.98	4.87|4.87	3.98|3.98	0.46160|0.46160	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.059619	.|0.64402	.|N	.|0.000002	T|T	0.01940|0.01940	0.0061|0.0061	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999995|0.999995	.|P;D	.|0.56968	.|0.904;0.978	.|B;B	.|0.39419	.|0.147;0.299	T|T	0.62310|0.62310	-0.6881|-0.6881	5|10	.|0.66056	.|D	.|0.02	-22.9558|-22.9558	12.1462|12.1462	0.54024|0.54024	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	.|148;405	.|Q64LD2-2;Q64LD2	.|.;WDR25_HUMAN	T|H	13|405;405;405;148	.|ENSP00000450661:R405H;ENSP00000385540:R405H;ENSP00000334148:R405H;ENSP00000441903:R148H	.|ENSP00000334148:R405H	A|R	+|+	1|2	0|0	WDR25|WDR25	100062072|100062072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.453000|9.453000	0.97619|0.97619	1.197000|1.197000	0.43143|0.43143	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.542	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		16	30	0	0	0	1	0	16	30				
KIF27	55582	broad.mit.edu	37	9	86514598	86514598	+	Missense_Mutation	SNP	G	G	A	rs550945409		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86514598G>A	ENST00000297814.2	-	5	1723	c.1580C>T	c.(1579-1581)gCg>gTg	p.A527V	KIF27_ENST00000334204.2_Missense_Mutation_p.A527V|KIF27_ENST00000413982.1_Missense_Mutation_p.A527V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	527					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CACTTTTTGCGCTTCTTTCAA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18980	0.0		0.0	False		,,,				2504	0.0					ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1579-1581)gCg>gTg		kinesin family member 27							165.0	128.0	141.0					9																	86514598		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86514598G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1580C>T	9.37:g.86514598G>A	ENSP00000297814:p.Ala527Val					KIF27_ENST00000413982.1_Missense_Mutation_p.A527V|KIF27_ENST00000334204.2_Missense_Mutation_p.A527V	p.A527V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			5	1723	-			527					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1580C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120996	0.37436	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.51817	0.69;0.69;0.69	3.97	3.07	0.35406	.	0.000000	0.53938	D	0.000053	T	0.46268	0.1384	M	0.76328	2.33	0.35844	D	0.826285	B;B;B	0.27264	0.14;0.173;0.033	B;B;B	0.24974	0.019;0.057;0.008	T	0.54377	-0.8303	10	0.37606	T	0.19	.	11.4284	0.50025	0.0902:0.0:0.9098:0.0	.	527;527;527	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	527	ENSP00000297814:A527V;ENSP00000401688:A527V;ENSP00000333928:A527V	ENSP00000297814:A527V	A	-	2	0	KIF27	85704418	0.992000	0.36948	0.938000	0.37757	0.650000	0.38633	2.121000	0.41977	0.881000	0.35993	-0.224000	0.12420	GCG		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		39	69	0	0	0	1	0	39	69				
TKTL2	84076	broad.mit.edu	37	4	164393760	164393760	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164393760A>G	ENST00000280605.3	-	1	1287	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	376						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCCTAGTGCCACACTTACCAT	0.453																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1126-1128)gTg>gCg		transketolase-like 2							96.0	96.0	96.0					4																	164393760		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393760A>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1127T>C	4.37:g.164393760A>G	ENSP00000280605:p.Val376Ala						p.V376A	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	1287	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	376					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1127T>C	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338269	0.41398	.	.	ENSG00000151005	ENST00000280605	D	0.91011	-2.77	3.84	3.84	0.44239	Transketolase-like, pyrimidine-binding domain (2);	0.070231	0.56097	D	0.000032	D	0.91600	0.7346	L	0.50847	1.595	0.80722	D	1	D	0.59357	0.985	D	0.64595	0.927	D	0.88554	0.3118	10	0.19147	T	0.46	-12.4626	11.2311	0.48912	1.0:0.0:0.0:0.0	.	376	Q9H0I9	TKTL2_HUMAN	A	376	ENSP00000280605:V376A	ENSP00000280605:V376A	V	-	2	0	TKTL2	164613210	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	8.714000	0.91412	1.973000	0.57446	0.533000	0.62120	GTG		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		30	47	0	0	0	1	0	30	47				
ZER1	10444	broad.mit.edu	37	9	131505018	131505018	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131505018G>A	ENST00000291900.2	-	9	1772	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	456					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CAGCAGTTCCGCTGCACCTGG	0.592																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1366-1368)Cgg>Tgg		zyg-11 related, cell cycle regulator							27.0	23.0	24.0					9																	131505018		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131505018G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1366C>T	9.37:g.131505018G>A	ENSP00000291900:p.Arg456Trp						p.R456W	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			9	1772	-			456					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1366C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821835	0.71028	.	.	ENSG00000160445	ENST00000291900	T	0.08008	3.14	5.71	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.054462	0.64402	D	0.000001	T	0.27169	0.0666	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01036	-1.1473	10	0.87932	D	0	-36.021	13.3088	0.60368	0.0:0.0:0.5869:0.4131	.	456	Q7Z7L7	ZER1_HUMAN	W	456	ENSP00000291900:R456W	ENSP00000291900:R456W	R	-	1	2	ZER1	130544839	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.809000	0.55606	0.722000	0.32252	-0.169000	0.13324	CGG		0.592	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		4	7	0	0	0	1	0	4	7				
RNF213	57674	broad.mit.edu	37	17	78320610	78320610	+	Silent	SNP	C	C	T	rs375053532	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78320610C>T	ENST00000582970.1	+	29	8618	c.8475C>T	c.(8473-8475)tgC>tgT	p.C2825C	RNF213_ENST00000508628.2_Silent_p.C2874C|RNF213_ENST00000336301.6_Silent_p.C898C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2825					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCGGCAGTGCGCCCGCTTTC	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18246	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(8473-8475)tgC>tgT		ring finger protein 213		C		0,4406		0,0,2203	51.0	47.0	48.0		8622	-8.2	0.7	17		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2874/5257	78320610	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78320610C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8475C>T	17.37:g.78320610C>T						RNF213_ENST00000336301.6_Silent_p.C898C|RNF213_ENST00000508628.2_Silent_p.C2874C	p.C2825C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	8618	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.8475C>T	CCDS58606.1																																																																																				0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	16	0	0	0	1	0	12	16				
HIPK2	28996	broad.mit.edu	37	7	139257921	139257921	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139257921C>T	ENST00000406875.3	-	15	3443	c.3349G>A	c.(3349-3351)Gtg>Atg	p.V1117M	HIPK2_ENST00000428878.2_Missense_Mutation_p.V1090M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1117	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGTGGGCCACGGTGCCGGTG	0.726																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3349-3351)Gtg>Atg		homeodomain interacting protein kinase 2							21.0	26.0	24.0					7																	139257921		2059	4176	6235	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139257921C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3349G>A	7.37:g.139257921C>T	ENSP00000385571:p.Val1117Met					HIPK2_ENST00000428878.2_Missense_Mutation_p.V1090M	p.V1117M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3443	-	Melanoma(164;0.205)		1117			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3349G>A		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442693	0.63067	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.57752	0.38;0.38	5.38	5.38	0.77491	.	.	.	.	.	T	0.72708	0.3494	.	.	.	0.51482	D	0.999929	D;D	0.89917	0.999;1.0	D;D	0.69479	0.921;0.964	T	0.73161	-0.4070	8	0.46703	T	0.11	.	19.134	0.93418	0.0:1.0:0.0:0.0	.	1117;1090	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	1117;1090	ENSP00000385571:V1117M;ENSP00000413724:V1090M	ENSP00000385571:V1117M	V	-	1	0	HIPK2	138908461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.408000	0.52651	2.532000	0.85374	0.655000	0.94253	GTG		0.726	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		15	11	0	0	0	1	0	15	11				
ANKFY1	51479	broad.mit.edu	37	17	4085622	4085622	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4085622G>T	ENST00000341657.4	-	15	2010	c.1975C>A	c.(1975-1977)Ctc>Atc	p.L659I	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L701I|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L660I	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	659	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCAGCTGGAGGGCTGTCTCC	0.567																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1975-1977)Ctc>Atc		ankyrin repeat and FYVE domain containing 1							109.0	110.0	110.0					17																	4085622		2017	4169	6186	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085622G>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1975C>A	17.37:g.4085622G>T	ENSP00000343362:p.Leu659Ile					ANKFY1_ENST00000574367.1_Missense_Mutation_p.L660I|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L701I|CYB5D2_ENST00000573984.1_Intron	p.L659I	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			15	2010	-			659					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1975C>A		.	.	.	.	.	.	.	.	.	.	G	14.23	2.474865	0.43942	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.42	4.46	0.54185	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.81014	0.4735	M	0.90425	3.115	0.80722	D	1	D;B;B;B	0.71674	0.998;0.085;0.069;0.117	D;B;B;B	0.77557	0.99;0.072;0.043;0.043	D	0.83944	0.0313	9	0.87932	D	0	-10.8154	11.0175	0.47698	0.1546:0.0:0.8454:0.0	.	601;659;660;701	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	I	660;601	.	ENSP00000343362:L660I	L	-	1	0	ANKFY1	4032371	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.268000	0.51585	1.284000	0.44531	0.650000	0.86243	CTC		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		36	64	1	0	1.08052e-11	1	1.16368e-11	36	64				
ACCS	84680	broad.mit.edu	37	11	44099415	44099415	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44099415C>T	ENST00000263776.8	+	8	1109	c.675C>T	c.(673-675)cgC>cgT	p.R225R		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	225					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TAGACACACGCCCCTTCCAGC	0.552																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(673-675)cgC>cgT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							74.0	62.0	66.0					11																	44099415		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44099415C>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.675C>T	11.37:g.44099415C>T							p.R225R	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			8	1109	+			225					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.675C>T	CCDS7907.1																																																																																				0.552	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		3	15	0	0	0	1	0	3	15				
CDK13	8621	broad.mit.edu	37	7	40133805	40133805	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:40133805G>A	ENST00000181839.4	+	14	4370	c.3765G>A	c.(3763-3765)ctG>ctA	p.L1255L	CDK13_ENST00000340829.5_Silent_p.L1195L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1255					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCGAATTCTGCCTCCTGACC	0.502																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3763-3765)ctG>ctA		cyclin-dependent kinase 13							139.0	125.0	130.0					7																	40133805		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40133805G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3765G>A	7.37:g.40133805G>A						CDK13_ENST00000340829.5_Silent_p.L1195L	p.L1255L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			14	4370	+			1255					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.3765G>A	CCDS5461.1																																																																																				0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		19	39	0	0	0	1	0	19	39				
TNC	3371	broad.mit.edu	37	9	117810616	117810616	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117810616C>T	ENST00000350763.4	-	16	5186	c.4775G>A	c.(4774-4776)gGc>gAc	p.G1592D	TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000481475.1_5'UTR	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1592	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G1592D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATAGCCAATGCCAGTTATGAG	0.498																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.G1592D(1)	urinary_tract(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4774-4776)gGc>gAc		tenascin C							121.0	114.0	116.0					9																	117810616		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117810616C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4775G>A	9.37:g.117810616C>T	ENSP00000265131:p.Gly1592Asp					TNC_ENST00000345230.3_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Intron	p.G1592D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			16	5186	-			1592			Fibronectin type-III 11.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4775G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518510	0.85495	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.61742	0.08;0.08	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.63058	0.2479	L	0.32530	0.975	0.80722	D	1	D	0.61697	0.99	P	0.60949	0.881	T	0.55010	-0.8207	10	0.18276	T	0.48	.	18.007	0.89212	0.0:1.0:0.0:0.0	.	1592	P24821	TENA_HUMAN	D	1228;1592	ENSP00000344400:G1228D;ENSP00000265131:G1592D	ENSP00000344400:G1228D	G	-	2	0	TNC	116850437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.688000	0.91661	0.655000	0.94253	GGC		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		20	61	0	0	0	1	0	20	61				
FAP	2191	broad.mit.edu	37	2	163044731	163044731	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163044731C>T	ENST00000188790.4	-	20	1969	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	FAP_ENST00000443424.1_Missense_Mutation_p.V563M	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTCGATACACTGCATAGAGG	0.433																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1762-1764)Gtg>Atg		fibroblast activation protein, alpha							169.0	154.0	159.0					2																	163044731		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044731C>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1762G>A	2.37:g.163044731C>T	ENSP00000188790:p.Val588Met					FAP_ENST00000443424.1_Missense_Mutation_p.V563M	p.V588M	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			20	1969	-			588						Missense_Mutation	SNP	ENST00000188790.4	37	c.1762G>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521069	0.64747	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.113017	0.64402	D	0.000008	T	0.55561	0.1928	M	0.73319	2.225	0.51767	D	0.999937	P;D;D	0.76494	0.797;0.996;0.999	P;P;D	0.75484	0.643;0.856;0.986	T	0.55579	-0.8119	10	0.87932	D	0	-11.7812	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	563;67;588	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	M	588;563	ENSP00000188790:V588M;ENSP00000411391:V563M	ENSP00000188790:V588M	V	-	1	0	FAP	162752977	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.229000	0.58625	2.885000	0.99019	0.655000	0.94253	GTG		0.433	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			18	36	0	0	0	1	0	18	36				
MCF2L2	23101	broad.mit.edu	37	3	182941898	182941898	+	Silent	SNP	G	G	A	rs373401665		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:182941898G>A	ENST00000328913.3	-	19	2493	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	MCF2L2_ENST00000473233.1_Silent_p.C732C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	732	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAAAGTAGGCGCAGTCTTGAC	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0					ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2194-2196)tgC>tgT		MCF.2 cell line derived transforming sequence-like 2		G		2,4404	4.2+/-10.8	0,2,2201	166.0	172.0	170.0		2196	-0.5	1.0	3		170	0,8600		0,0,4300	no	coding-synonymous	MCF2L2	NM_015078.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		732/1115	182941898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182941898G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2196C>T	3.37:g.182941898G>A						MCF2L2_ENST00000473233.1_Silent_p.C732C	p.C732C	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		19	2493	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		732			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.2196C>T	CCDS3243.1																																																																																				0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		72	124	0	0	0	1	0	72	124				
MAP3K9	4293	broad.mit.edu	37	14	71197290	71197290	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:71197290C>T	ENST00000554752.2	-	12	3121	c.3122G>A	c.(3121-3123)aGc>aAc	p.S1041N	MAP3K9_ENST00000553414.1_Missense_Mutation_p.S774N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1055N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S769N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S1018N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1041	Ser-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTCTACAGTGCTGCTACTGCT	0.662																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(3121-3123)aGc>aAc		mitogen-activated protein kinase kinase kinase 9							49.0	46.0	47.0					14																	71197290		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197290C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3122G>A	14.37:g.71197290C>T	ENSP00000451612:p.Ser1041Asn					MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1055N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S769N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S774N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S1018N	p.S1041N			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3121	-			1041			Ser-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.3122G>A		.	.	.	.	.	.	.	.	.	.	C	15.33	2.802957	0.50315	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.74842	-0.88;-0.83;-0.87;-0.82	4.84	4.84	0.62591	.	0.224065	0.49305	D	0.000142	T	0.64000	0.2559	N	0.22421	0.69	0.40259	D	0.97815	B;B;B;P	0.49862	0.2;0.027;0.2;0.929	B;B;B;B	0.42827	0.051;0.014;0.051;0.399	T	0.63883	-0.6536	10	0.22706	T	0.39	.	18.1285	0.89593	0.0:1.0:0.0:0.0	.	769;1041;1055;774	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	N	1041;1055;774;1018;769;757	ENSP00000451612:S1041N;ENSP00000451038:S774N;ENSP00000370649:S1018N;ENSP00000451921:S769N	ENSP00000005198:S1055N	S	-	2	0	MAP3K9	70267043	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.020000	0.57189	2.524000	0.85096	0.655000	0.94253	AGC		0.662	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			16	33	0	0	0	1	0	16	33				
SMCO1	255798	broad.mit.edu	37	3	196236507	196236507	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196236507C>T	ENST00000397537.2	-	2	240	c.84G>A	c.(82-84)caG>caA	p.Q28Q		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	28						integral component of membrane (GO:0016021)											GTTCTTTGAACTGTGTTTCTA	0.413																																						ENST00000397537.2																			0											c.(82-84)caG>caA		single-pass membrane protein with coiled-coil domains 1							245.0	220.0	228.0					3																	196236507		1891	4122	6013	SO:0001819	synonymous_variant	255798							g.chr3:196236507C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.84G>A	3.37:g.196236507C>T							p.Q28Q	NM_001077657.1	NP_001071125.1					2	240	-								B3KW20	Silent	SNP	ENST00000397537.2	37	c.84G>A	CCDS43192.1																																																																																				0.413	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		25	34	0	0	0	1	0	25	34				
ST8SIA5	29906	broad.mit.edu	37	18	44260380	44260380	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44260380C>T	ENST00000315087.7	-	7	1416	c.756G>A	c.(754-756)acG>acA	p.T252T	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T288T|ST8SIA5_ENST00000536490.1_Silent_p.T221T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	252					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CGGTGTTGCGCGTGTTGTAGA	0.587																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(754-756)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							93.0	53.0	66.0					18																	44260380		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260380C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.756G>A	18.37:g.44260380C>T						ST8SIA5_ENST00000536490.1_Silent_p.T221T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T288T	p.T252T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1416	-			252					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.756G>A	CCDS11930.1																																																																																				0.587	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		5	19	0	0	0	1	0	5	19				
EPHB2	2048	broad.mit.edu	37	1	23219423	23219423	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23219423C>T	ENST00000400191.3	+	7	1493	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	EPHB2_ENST00000374630.3_Missense_Mutation_p.T492M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T487M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T492M|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCACCAACACGGTCACCGTG	0.577																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1474-1476)aCg>aTg		EPH receptor B2							63.0	67.0	66.0					1																	23219423		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219423C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1475C>T	1.37:g.23219423C>T	ENSP00000383053:p.Thr492Met					EPHB2_ENST00000374630.3_Missense_Mutation_p.T492M|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.T492M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T487M	p.T492M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1493	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	492			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1475C>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.359083	0.82353	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057993	0.64402	D	0.000002	T	0.53094	0.1775	L	0.46157	1.445	0.80722	D	1	B;P;B;B	0.34662	0.085;0.462;0.325;0.139	B;B;B;B	0.33254	0.025;0.16;0.16;0.099	T	0.55698	-0.8100	10	0.49607	T	0.09	.	17.5404	0.87845	0.0:1.0:0.0:0.0	.	492;492;510;492	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	492;492;492;492;487	ENSP00000363761:T492M;ENSP00000383053:T492M;ENSP00000363763:T492M;ENSP00000363758:T487M	ENSP00000363755:T492M	T	+	2	0	EPHB2	23092010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.585000	0.82584	2.723000	0.93209	0.655000	0.94253	ACG		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		3	29	0	0	0	1	0	3	29				
SHANK2	22941	broad.mit.edu	37	11	70331557	70331557	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70331557G>A	ENST00000423696.2	-	15	3740	c.3704C>T	c.(3703-3705)cCg>cTg	p.P1235L	SHANK2_ENST00000409161.1_Missense_Mutation_p.P1018L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1615L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1019L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1235					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGAGAGAATCGGGCTTTTGAT	0.567																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4843-4845)cCg>cTg		SH3 and multiple ankyrin repeat domains 2							88.0	91.0	90.0					11																	70331557		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331557G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3704C>T	11.37:g.70331557G>A	ENSP00000394536:p.Pro1235Leu					SHANK2_ENST00000423696.2_Missense_Mutation_p.P1235L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P1019L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1018L	p.P1615L			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4843	-			1235					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4844C>T		.	.	.	.	.	.	.	.	.	.	G	18.41	3.618447	0.66787	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	2.11;2.11;2.84;0.82;2.24;2.26	5.66	5.66	0.87406	.	3.850650	0.00531	N	0.000212	T	0.53318	0.1789	M	0.76002	2.32	0.80722	D	1	P;P;P	0.50617	0.782;0.937;0.684	B;B;B	0.37091	0.104;0.241;0.132	T	0.65154	-0.6237	10	0.07990	T	0.79	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	1235;1614;1019	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1019;1018;893;1615;1235;1253;1238	ENSP00000399423:P1019L;ENSP00000386491:P1018L;ENSP00000402944:P893L;ENSP00000345193:P1615L;ENSP00000394536:P1235L;ENSP00000294018:P1238L	ENSP00000294018:P1238L	P	-	2	0	SHANK2	70009205	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.785000	0.75089	2.665000	0.90641	0.655000	0.94253	CCG		0.567	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		38	55	0	0	0	1	0	38	55				
LRRIQ1	84125	broad.mit.edu	37	12	85547499	85547499	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:85547499C>T	ENST00000393217.2	+	22	4661	c.4600C>T	c.(4600-4602)Cta>Tta	p.L1534L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1534										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAGAGTTTGCTAAAATCTGA	0.303																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4600-4602)Cta>Tta		leucine-rich repeats and IQ motif containing 1							23.0	20.0	21.0					12																	85547499		1775	4042	5817	SO:0001819	synonymous_variant	84125							g.chr12:85547499C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4600C>T	12.37:g.85547499C>T							p.L1534L	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	22	4661	+			1534					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4600C>T	CCDS41816.1																																																																																				0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		10	23	0	0	0	1	0	10	23				
TLE4	7091	broad.mit.edu	37	9	82333770	82333770	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:82333770G>A	ENST00000376552.2	+	15	2492	c.1474G>A	c.(1474-1476)Gcg>Acg	p.A492T	TLE4_ENST00000376520.4_Missense_Mutation_p.A524T|TLE4_ENST00000265284.6_Missense_Mutation_p.A467T|TLE4_ENST00000376537.4_Missense_Mutation_p.A524T|TLE4_ENST00000376544.3_Missense_Mutation_p.A423T|TLE4_ENST00000376534.4_Missense_Mutation_p.A129T	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	492					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTGGTGTGCGCGGTGACCAT	0.622																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1570-1572)Gcg>Acg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							139.0	128.0	132.0					9																	82333770		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82333770G>A	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1474G>A	9.37:g.82333770G>A	ENSP00000365735:p.Ala492Thr					TLE4_ENST00000376552.2_Missense_Mutation_p.A492T|TLE4_ENST00000376537.4_Missense_Mutation_p.A524T|TLE4_ENST00000265284.6_Missense_Mutation_p.A467T|TLE4_ENST00000376534.4_Missense_Mutation_p.A129T|TLE4_ENST00000376544.3_Missense_Mutation_p.A423T	p.A524T			O60756	BCE1_HUMAN			16	2398	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1570G>A	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.140048|6.140048	0.97320|0.97320	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284|ENST00000496114	T;T;T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65;2.65;2.65|.	6.07|6.07	6.07|6.07	0.98685|0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85600|0.85600	0.5734|0.5734	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.989;1.0;1.0;0.991|.	P;D;D;P|.	0.76575|.	0.752;0.988;0.979;0.839|.	D|D	0.86175|0.86175	0.1602|0.1602	10|5	0.66056|.	D|.	0.02|.	-16.6787|-16.6787	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	467;423;524;492|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.	.;.;.;TLE4_HUMAN|.	T|H	492;423;524;524;129;467|307	ENSP00000365735:A492T;ENSP00000365727:A423T;ENSP00000365703:A524T;ENSP00000365720:A524T;ENSP00000365717:A129T;ENSP00000265284:A467T|.	ENSP00000265284:A467T|.	A|R	+|+	1|2	0|0	TLE4|TLE4	81523590|81523590	1.000000|1.000000	0.71417|0.71417	0.617000|0.617000	0.29091|0.29091	0.918000|0.918000	0.54935|0.54935	9.869000|9.869000	0.99810|0.99810	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		22	41	0	0	0	1	0	22	41				
TROVE2	6738	broad.mit.edu	37	1	193045659	193045659	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:193045659C>T	ENST00000367446.3	+	4	1040	c.830C>T	c.(829-831)cCg>cTg	p.P277L	TROVE2_ENST00000367445.3_Missense_Mutation_p.P277L|TROVE2_ENST00000432079.1_Missense_Mutation_p.P2L|TROVE2_ENST00000367441.1_Missense_Mutation_p.P277L|TROVE2_ENST00000400968.2_Missense_Mutation_p.P277L|TROVE2_ENST00000367444.3_Missense_Mutation_p.P277L|TROVE2_ENST00000367443.1_Missense_Mutation_p.P277L|TROVE2_ENST00000416058.2_Missense_Mutation_p.P2L|TROVE2_ENST00000460715.2_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	277	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CAAGAAATGCCGCTTACTGCA	0.328																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(4-6)cCg>cTg		TROVE domain family, member 2							107.0	102.0	104.0					1																	193045659		1826	4076	5902	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045659C>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.830C>T	1.37:g.193045659C>T	ENSP00000356416:p.Pro277Leu					TROVE2_ENST00000367446.3_Missense_Mutation_p.P277L|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.P277L|TROVE2_ENST00000367441.1_Missense_Mutation_p.P277L|TROVE2_ENST00000367444.3_Missense_Mutation_p.P277L|TROVE2_ENST00000400968.2_Missense_Mutation_p.P277L|TROVE2_ENST00000367443.1_Missense_Mutation_p.P277L|TROVE2_ENST00000416058.2_Missense_Mutation_p.P2L	p.P2L			P10155	RO60_HUMAN			3	573	+			277					B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.5C>T	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857283	0.91433	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.25	5.25	0.73442	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.998;1.0	T	0.67341	-0.5695	10	0.66056	D	0.02	-12.9501	19.2623	0.93973	0.0:1.0:0.0:0.0	.	277;277;277;277	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	L	277;2;277;277;277;277;277	ENSP00000383752:P277L;ENSP00000411421:P2L;ENSP00000356416:P277L;ENSP00000356413:P277L;ENSP00000356415:P277L;ENSP00000356414:P277L;ENSP00000356411:P277L	ENSP00000356411:P277L	P	+	2	0	TROVE2	191312282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.070000	0.76763	2.631000	0.89168	0.456000	0.33151	CCG		0.328	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		48	101	0	0	0	1	0	48	101				
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	rs146730920		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468																																						ENST00000219169.4																			1	Substitution - Missense(1)	p.A31P(1)	lung(1)	kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(91-93)Gca>Aca		nuclear transport factor 2							73.0	64.0	67.0					16																	67899124		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899124G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.91G>A	16.37:g.67899124G>A	ENSP00000219169:p.Ala31Thr					NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	374	+		Ovarian(137;0.0563)	31			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.91G>A	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541802	0.13250	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.328672	0.32244	N	0.006363	T	0.23210	0.0561	N	0.16307	0.4	0.33007	D	0.527003	P;B	0.49635	0.926;0.002	B;B	0.34536	0.185;0.001	T	0.22661	-1.0210	9	0.09338	T	0.73	0.2507	18.0088	0.89217	0.0:0.0:1.0:0.0	.	31;31	B4DEQ2;P61970	.;NTF2_HUMAN	T	31	.	ENSP00000219169:A31T	A	+	1	0	NUTF2	66456625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.557000	0.86248	0.555000	0.69702	GCA		0.468	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			14	22	0	0	0	1	0	14	22				
SEMA4G	57715	broad.mit.edu	37	10	102740674	102740674	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102740674A>G	ENST00000370250.4	+	12	1936	c.1563A>G	c.(1561-1563)cgA>cgG	p.R521R	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_Silent_p.R521R|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.R521R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	521	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCTTGGCCCGAGACCCCTACT	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1561-1563)cgA>cgG		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							83.0	90.0	88.0					10																	102740674		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102740674A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1563A>G	10.37:g.102740674A>G						SEMA4G_ENST00000370250.4_Silent_p.R521R|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.R521R	p.R521R			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	12	1641	+		Colorectal(252;0.234)	521			PSI.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.1563A>G																																																																																					0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			38	65	0	0	0	1	0	38	65				
MLNR	2862	broad.mit.edu	37	13	49795157	49795157	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49795157G>A	ENST00000218721.1	+	1	684	c.684G>A	c.(682-684)gcG>gcA	p.A228A	MLNR_ENST00000398307.1_Silent_p.A228A	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	228					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGAGGCCGCGGCGCTGTTCA	0.746																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(682-684)gcG>gcA		motilin receptor							16.0	18.0	17.0					13																	49795157		2131	4177	6308	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795157G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.684G>A	13.37:g.49795157G>A						MLNR_ENST00000218721.1_Silent_p.A228A	p.A228A			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	684	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	228						Silent	SNP	ENST00000218721.1	37	c.684G>A	CCDS9414.1																																																																																				0.746	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		6	29	0	0	0	1	0	6	29				
RAD51B	5890	broad.mit.edu	37	14	68301821	68301821	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68301821T>C	ENST00000487270.1	+	4	271	c.223T>C	c.(223-225)Tct>Cct	p.S75P	RAD51B_ENST00000390683.3_Missense_Mutation_p.S75P|RAD51B_ENST00000471583.1_Missense_Mutation_p.S75P|RAD51B_ENST00000487861.1_Missense_Mutation_p.S75P|RAD51B_ENST00000488612.1_Missense_Mutation_p.S75P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	75	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGCACAAAGGTCTGCTGATTT	0.378								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(223-225)Tct>Cct	Direct reversal of damage	RAD51 paralog B							108.0	104.0	106.0					14																	68301821		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68301821T>C	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.223T>C	14.37:g.68301821T>C	ENSP00000419471:p.Ser75Pro					RAD51B_ENST00000488612.1_Missense_Mutation_p.S75P|RAD51B_ENST00000487861.1_Missense_Mutation_p.S75P|RAD51B_ENST00000390683.3_Missense_Mutation_p.S75P|RAD51B_ENST00000471583.1_Missense_Mutation_p.S75P	p.S75P	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			4	271	+			75					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.223T>C	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.918427	0.33908	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.57595	1.03;1.08;1.13;1.09;0.57;0.39;1.09	5.59	3.07	0.35406	DNA recombination and repair protein Rad51, C-terminal (1);	0.257041	0.31922	N	0.006853	T	0.51058	0.1652	M	0.75447	2.3	0.09310	N	0.999999	P;P;P;P;B;B	0.51653	0.947;0.845;0.528;0.662;0.36;0.131	P;B;B;B;B;B	0.44772	0.46;0.366;0.245;0.377;0.169;0.138	T	0.51996	-0.8634	10	0.66056	D	0.02	.	5.765	0.18221	0.2429:0.0:0.1485:0.6085	.	75;75;75;75;75;75	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	P	75	ENSP00000419881:S75P;ENSP00000418859:S75P;ENSP00000419471:S75P;ENSP00000420061:S75P;ENSP00000417948:S75P;ENSP00000452044:S75P;ENSP00000375101:S75P	ENSP00000343531:S75P	S	+	1	0	RAD51B	67371574	0.643000	0.27269	0.232000	0.24009	0.110000	0.19582	0.394000	0.20834	1.053000	0.40415	-0.385000	0.06624	TCT		0.378	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			19	30	0	0	0	1	0	19	30				
SLC39A12	221074	broad.mit.edu	37	10	18254429	18254429	+	Silent	SNP	G	G	A	rs149105221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18254429G>A	ENST00000377369.2	+	4	834	c.561G>A	c.(559-561)acG>acA	p.T187T	SLC39A12_ENST00000539911.1_Silent_p.T53T|SLC39A12_ENST00000377374.4_Silent_p.T187T|SLC39A12_ENST00000377371.3_Silent_p.T187T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	187					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACCAAAACGCTGCAGAAAA	0.378																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(559-561)acG>acA		solute carrier family 39 (zinc transporter), member 12		G	,	0,4406		0,0,2203	69.0	69.0	69.0		561,561	-7.2	0.0	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC39A12	NM_001145195.1,NM_152725.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	187/692,187/655	18254429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18254429G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.561G>A	10.37:g.18254429G>A						SLC39A12_ENST00000539911.1_Silent_p.T53T|SLC39A12_ENST00000377371.3_Silent_p.T187T|SLC39A12_ENST00000377374.4_Silent_p.T187T	p.T187T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			4	834	+			187					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.561G>A	CCDS44362.1																																																																																				0.378	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		18	37	0	0	0	1	0	18	37				
FAM83G	644815	broad.mit.edu	37	17	18874781	18874781	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18874781G>A	ENST00000388995.6	-	6	2586	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	FAM83G_ENST00000585154.2_Missense_Mutation_p.S788F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S788F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	788					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGACAGTTTGGAGTATGGGAT	0.627																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2362-2364)tCc>tTc		family with sequence similarity 83, member G							96.0	107.0	104.0					17																	18874781		2053	4174	6227	SO:0001583	missense	644815							g.chr17:18874781G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2363C>T	17.37:g.18874781G>A	ENSP00000373647:p.Ser788Phe					SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S788F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S788F	p.S788F			A6ND36	FA83G_HUMAN			6	2586	-			788					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2363C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241192	0.79912	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.25579	1.79;1.79	5.35	5.35	0.76521	.	0.131736	0.52532	D	0.000065	T	0.54334	0.1852	M	0.74258	2.255	0.41694	D	0.989365	D	0.89917	1.0	D	0.87578	0.998	T	0.57312	-0.7833	10	0.72032	D	0.01	-50.4135	19.4294	0.94758	0.0:0.0:1.0:0.0	.	788	A6ND36	FA83G_HUMAN	F	788	ENSP00000373647:S788F;ENSP00000343279:S788F	ENSP00000343279:S788F	S	-	2	0	FAM83G	18815506	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.585000	0.82584	2.667000	0.90743	0.561000	0.74099	TCC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			12	97	0	0	0	1	0	12	97				
ZNF791	163049	broad.mit.edu	37	19	12738675	12738675	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12738675G>A	ENST00000343325.4	+	4	494	c.332G>A	c.(331-333)cGt>cAt	p.R111H	ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2H|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79H|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GCCTTCATGCGTCTCTCATCC	0.428																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(331-333)cGt>cAt		zinc finger protein 791							153.0	147.0	149.0					19																	12738675		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738675G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.332G>A	19.37:g.12738675G>A	ENSP00000342974:p.Arg111His					ZNF791_ENST00000458122.3_Missense_Mutation_p.R79H|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.R2H	p.R111H	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	494	+			111					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.332G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	0.780	-0.762569	0.02996	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.15718	3.42;3.42;2.4	1.55	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	9	0.06625	T	0.88	.	3.2766	0.06901	0.4716:0.0:0.5284:0.0	.	111	Q3KP31	ZN791_HUMAN	H	111;111;79;2	ENSP00000342974:R111H;ENSP00000441761:R79H;ENSP00000441038:R2H	ENSP00000342974:R111H	R	+	2	0	ZNF791	12599675	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	-0.884000	0.04166	0.842000	0.35045	0.491000	0.48974	CGT		0.428	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		50	93	0	0	0	1	0	50	93				
DMWD	1762	broad.mit.edu	37	19	46289586	46289586	+	Missense_Mutation	SNP	C	C	T	rs267605546		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46289586C>T	ENST00000270223.6	-	3	1213	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.A390T|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	390										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TCAGCACCGGCTGCTGTCGCC	0.711																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1168-1170)Gcc>Acc		dystrophia myotonica, WD repeat containing							35.0	39.0	38.0					19																	46289586		2171	4231	6402	SO:0001583	missense	1762				meiosis			g.chr19:46289586C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1168G>A	19.37:g.46289586C>T	ENSP00000270223:p.Ala390Thr					DMWD_ENST00000377735.3_Missense_Mutation_p.A390T	p.A390T	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1213	-		Ovarian(192;0.0308)|all_neural(266;0.112)	390						Missense_Mutation	SNP	ENST00000270223.6	37	c.1168G>A	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	4.004	-0.001987	0.07819	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.59224	0.29;0.28	4.01	1.76	0.24704	WD40 repeat-like-containing domain (1);	0.536026	0.14036	N	0.345741	T	0.28797	0.0714	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.003	T	0.16897	-1.0387	10	0.59425	D	0.04	-12.2326	3.1496	0.06483	0.2133:0.5619:0.0:0.2249	.	75;390;390	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	T	390	ENSP00000366964:A390T;ENSP00000270223:A390T	ENSP00000270223:A390T	A	-	1	0	DMWD	50981426	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.046000	0.14035	0.424000	0.26061	0.462000	0.41574	GCC		0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		10	58	0	0	0	1	0	10	58				
GPR45	11250	broad.mit.edu	37	2	105858891	105858891	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858891C>T	ENST00000258456.1	+	1	692	c.576C>T	c.(574-576)gaC>gaT	p.D192D		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCCCGCTGACCGCGCCTACG	0.682																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(574-576)gaC>gaT		G protein-coupled receptor 45							34.0	31.0	32.0					2																	105858891		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858891C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.576C>T	2.37:g.105858891C>T							p.D192D	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	692	+			192					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.576C>T	CCDS2066.1																																																																																				0.682	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	15	0	0	0	1	0	9	15				
BCL9L	283149	broad.mit.edu	37	11	118770809	118770809	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118770809G>A	ENST00000334801.3	-	7	4187	c.3223C>T	c.(3223-3225)Cca>Tca	p.P1075S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1075	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTGGGGTCTGGGGAGGAAGTG	0.632																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3223-3225)Cca>Tca		B-cell CLL/lymphoma 9-like							127.0	119.0	122.0					11																	118770809		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770809G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3223C>T	11.37:g.118770809G>A	ENSP00000335320:p.Pro1075Ser					BCL9L_ENST00000526143.1_5'UTR	p.P1075S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4187	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1075			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3223C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282853	0.80692	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.52057	0.68	4.38	4.38	0.52667	.	0.000000	0.50627	D	0.000110	T	0.59307	0.2184	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.915	T	0.64854	-0.6309	10	0.87932	D	0	-4.8977	17.1466	0.86767	0.0:0.0:1.0:0.0	.	1070;1075	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	1075;1038;368;1075;1075	ENSP00000335320:P1075S	ENSP00000335320:P1075S	P	-	1	0	BCL9L	118276019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.262000	0.75019	0.561000	0.74099	CCA		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		28	46	0	0	0	1	0	28	46				
ARHGEF2	9181	broad.mit.edu	37	1	155935172	155935172	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155935172G>A	ENST00000361247.4	-	6	601	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R213C|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R169C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R141C|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R141C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R168C	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	168					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGATCCGGCGCAGCCCCAGG	0.582																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(421-423)Cgc>Tgc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							61.0	62.0	61.0					1																	155935172		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155935172G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.502C>T	1.37:g.155935172G>A	ENSP00000354837:p.Arg168Cys					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R168C|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R169C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R168C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R141C	p.R141C			Q92974	ARHG2_HUMAN			10	891	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		168					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.421C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092087	0.55968	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.64260	-0.08;0.03;0.03;-0.08;-0.09	5.63	5.63	0.86233	.	0.000000	0.48286	D	0.000189	T	0.65502	0.2697	L	0.39633	1.23	0.53688	D	0.999977	B;P;D;P	0.89917	0.217;0.522;1.0;0.525	B;B;D;B	0.72982	0.019;0.056;0.979;0.119	T	0.62300	-0.6883	10	0.35671	T	0.21	-21.9458	17.1762	0.86842	0.0:0.0:1.0:0.0	.	213;213;168;168	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	C	141;168;169;141;213;141;168	ENSP00000315325:R141C;ENSP00000354837:R168C;ENSP00000357298:R169C;ENSP00000357299:R141C;ENSP00000314787:R168C	ENSP00000314787:R168C	R	-	1	0	ARHGEF2	154201796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.665000	0.90641	0.655000	0.94253	CGC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		12	18	0	0	0	1	0	12	18				
RHOBTB2	23221	broad.mit.edu	37	8	22872264	22872264	+	Silent	SNP	C	C	T	rs561833683		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22872264C>T	ENST00000251822.6	+	8	2370	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	RHOBTB2_ENST00000522948.1_Silent_p.D618D|RHOBTB2_ENST00000519685.1_Silent_p.D633D|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	611					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGATGGGGACGTCCTTGTGT	0.547											OREG0018629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		20793	0.0		0.0	False		,,,				2504	0.001					ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1831-1833)gaC>gaT		Rho-related BTB domain containing 2							198.0	139.0	159.0					8																	22872264		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22872264C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1833C>T	8.37:g.22872264C>T			OREG0018629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.D633D|RHOBTB2_ENST00000522948.1_Silent_p.D618D	p.D611D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	8	2370	+		Prostate(55;0.0513)|Breast(100;0.214)	611					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.1833C>T	CCDS6034.1																																																																																				0.547	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			8	8	0	0	0	1	0	8	8				
DHRSX	207063	broad.mit.edu	37	X	2161198	2161198	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2161198G>A	ENST00000334651.5	-	6	722	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	224							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCAGCAGCCGCTGGAGGTGG	0.642													.|||	4	0.000798722	0.0023	0.0	5008	,	,		13377	0.001		0.0	False		,,,				2504	0.0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(670-672)Cgg>Tgg		dehydrogenase/reductase (SDR family) X-linked		G	TRP/ARG	10,4396		0,10,2193	90.0	85.0	87.0		670	-2.9	0.9	X	dbSNP_134	87	1,8591		0,1,4295	no	missense	DHRSX	NM_145177.2	101	0,11,6488	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging	224/331	2161198	11,12987	2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161198G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.670C>T	X.37:g.2161198G>A	ENSP00000334113:p.Arg224Trp						p.R224W	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	722	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	224					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.670C>T	CCDS35195.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.54	1.668376	0.29604	0.00227	1.16E-4	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.96136	-3.92;-3.92	1.45	-2.91	0.05631	NAD(P)-binding domain (1);	0.659654	0.14757	U	0.300230	D	0.97368	0.9139	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93688	0.7004	10	0.87932	D	0	.	8.5009	0.33156	0.0:0.0:0.7677:0.2323	.	224	Q8N5I4	DHRSX_HUMAN	W	224;201	ENSP00000334113:R224W;ENSP00000391778:R201W	ENSP00000334113:R224W	R	-	1	2	DHRSX	2171198	1.000000	0.71417	0.884000	0.34674	0.360000	0.29518	1.248000	0.32827	-0.944000	0.03686	0.054000	0.15206	CGG		0.642	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		14	34	0	0	0	1	0	14	34				
DNAH8	1769	broad.mit.edu	37	6	38790793	38790793	+	Missense_Mutation	SNP	C	C	T	rs200239803		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:38790793C>T	ENST00000359357.3	+	25	3306	c.3052C>T	c.(3052-3054)Cgc>Tgc	p.R1018C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235C|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1018					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACAGAGGACCGCGATGTGAA	0.458																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3052-3054)Cgc>Tgc		dynein, axonemal, heavy chain 8		C	CYS/ARG	0,4406		0,0,2203	110.0	113.0	112.0		3703	4.7	0.9	6		112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH8	NM_001206927.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1235/4708	38790793	1,13005	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790793C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3052C>T	6.37:g.38790793C>T	ENSP00000352312:p.Arg1018Cys					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018C	p.R1018C							25	3306	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3052C>T		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292416	0.40594	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27256	1.73;1.73;1.68	5.53	4.66	0.58398	.	0.260095	0.28635	N	0.014649	T	0.30417	0.0764	L	0.59436	1.845	0.52099	D	0.999943	D	0.76494	0.999	P	0.59357	0.856	T	0.10543	-1.0625	10	0.72032	D	0.01	.	12.2715	0.54708	0.3743:0.6257:0.0:0.0	.	1018	Q96JB1	DYH8_HUMAN	C	1223;1223;1018;1018	ENSP00000333363:R1223C;ENSP00000352312:R1018C;ENSP00000402294:R1018C	ENSP00000333363:R1223C	R	+	1	0	DNAH8	38898771	1.000000	0.71417	0.879000	0.34478	0.007000	0.05969	3.302000	0.51849	1.310000	0.45006	0.467000	0.42956	CGC		0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	15	0	0	0	1	0	21	15				
SIN3A	25942	broad.mit.edu	37	15	75722710	75722710	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75722710G>A	ENST00000394947.3	-	2	321	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	SIN3A_ENST00000567289.1_Missense_Mutation_p.R3W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R3W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R3W	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCAAACGCCGCTTCATTCTG	0.547																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(7-9)Cgg>Tgg		SIN3 transcription regulator family member A							54.0	47.0	49.0					15																	75722710		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75722710G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.7C>T	15.37:g.75722710G>A	ENSP00000378402:p.Arg3Trp					SIN3A_ENST00000567289.1_Missense_Mutation_p.R3W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R3W|SIN3A_ENST00000394949.4_Missense_Mutation_p.R3W	p.R3W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			2	321	-			3						Missense_Mutation	SNP	ENST00000394947.3	37	c.7C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834656	0.91036	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.53640	0.61;0.61;0.61	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67035	-0.5772	10	0.87932	D	0	-7.0329	18.3323	0.90274	0.0:0.0:1.0:0.0	.	3	Q96ST3	SIN3A_HUMAN	W	3	ENSP00000378402:R3W;ENSP00000378403:R3W;ENSP00000353622:R3W	ENSP00000353622:R3W	R	-	1	2	SIN3A	73509763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.562000	0.73960	2.590000	0.87494	0.655000	0.94253	CGG		0.547	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		3	5	0	0	0	1	0	3	5				
HNMT	3176	broad.mit.edu	37	2	138759638	138759638	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138759638T>C	ENST00000280097.3	+	4	485	c.303T>C	c.(301-303)ctT>ctC	p.L101L	HNMT_ENST00000410115.1_Silent_p.L101L|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	101					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTTTAGAGCTTGTAGCCAAGA	0.353																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(301-303)ctT>ctC		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						59.0	56.0	57.0					2																	138759638		2203	4300	6503	SO:0001819	synonymous_variant	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138759638T>C		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.303T>C	2.37:g.138759638T>C						HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Silent_p.L101L	p.L101L	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	4	485	+			101					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Silent	SNP	ENST00000280097.3	37	c.303T>C	CCDS2181.1																																																																																				0.353	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			23	28	0	0	0	1	0	23	28				
MINA	84864	broad.mit.edu	37	3	97664085	97664085	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97664085C>A	ENST00000333396.7	-	10	1923	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D	MINA_ENST00000394198.2_Missense_Mutation_p.E447D|MINA_ENST00000360258.4_Missense_Mutation_p.E446D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCCTTTTCCTCATCTGTAG	0.383																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1339-1341)gaG>gaT		MYC induced nuclear antigen							120.0	125.0	123.0					3																	97664085		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97664085C>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1341G>T	3.37:g.97664085C>A	ENSP00000328251:p.Glu447Asp					MINA_ENST00000394198.2_Missense_Mutation_p.E447D|MINA_ENST00000360258.4_Missense_Mutation_p.E446D	p.E447D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			10	1923	-			447						Missense_Mutation	SNP	ENST00000333396.7	37	c.1341G>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862356	0.51482	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.13657	2.58;2.58;2.57	6.02	1.48	0.22813	.	0.215797	0.46442	D	0.000296	T	0.11537	0.0281	M	0.72479	2.2	0.80722	D	1	B;B	0.31503	0.326;0.219	B;B	0.32090	0.14;0.066	T	0.08911	-1.0699	10	0.19147	T	0.46	-35.4877	1.5538	0.02580	0.1439:0.4039:0.1411:0.311	.	446;447	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	193;447;447;446	ENSP00000328251:E447D;ENSP00000377748:E447D;ENSP00000353395:E446D	ENSP00000328251:E447D	E	-	3	2	MINA	99146775	0.147000	0.22687	1.000000	0.80357	0.905000	0.53344	-0.484000	0.06528	0.860000	0.35481	0.655000	0.94253	GAG		0.383	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		26	60	1	0	7.76418e-22	1	8.6294e-22	26	60				
KLHL24	54800	broad.mit.edu	37	3	183368576	183368576	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183368576C>T	ENST00000454652.2	+	4	818	c.432C>T	c.(430-432)agC>agT	p.S144S	KLHL24_ENST00000242810.6_Silent_p.S144S|KLHL24_ENST00000476808.1_Silent_p.S144S	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	144						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGACATCAAGCCTCTTTCAGA	0.408																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(430-432)agC>agT		kelch-like family member 24							167.0	150.0	156.0					3																	183368576		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368576C>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.432C>T	3.37:g.183368576C>T						KLHL24_ENST00000476808.1_Silent_p.S144S|KLHL24_ENST00000242810.6_Silent_p.S144S	p.S144S			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	818	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		144					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.432C>T	CCDS3246.1																																																																																				0.408	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		4	107	0	0	0	1	0	4	107				
MAPK13	5603	broad.mit.edu	37	6	36106713	36106713	+	Missense_Mutation	SNP	C	C	T	rs138408572		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36106713C>T	ENST00000211287.4	+	11	1161	c.899C>T	c.(898-900)gCg>gTg	p.A300V	MAPK13_ENST00000373766.5_Silent_p.R249R|Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.A290V	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in dbSNP:rs41270090). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGACGGCCGCGCAGGCCCTC	0.617																																						ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(898-900)gCg>gTg		mitogen-activated protein kinase 13		C	VAL/ALA	0,4406		0,0,2203	48.0	52.0	51.0		899	5.2	0.2	6	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAPK13	NM_002754.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	300/366	36106713	1,13005	2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106713C>T	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.899C>T	6.37:g.36106713C>T	ENSP00000211287:p.Ala300Val					MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.R249R|MAPK13_ENST00000373761.6_Missense_Mutation_p.A290V	p.A300V	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			11	1161	+			300		A -> T (in dbSNP:rs41270090).	Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.899C>T	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991819	0.54041	0.0	1.16E-4	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.66815	-0.23;-0.23	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.360102	0.22859	N	0.054762	T	0.50257	0.1605	L	0.48174	1.505	0.80722	D	1	B	0.27068	0.167	B	0.20955	0.032	T	0.52859	-0.8519	10	0.46703	T	0.11	-2.7727	18.8249	0.92114	0.0:1.0:0.0:0.0	.	300	O15264	MK13_HUMAN	V	290;300;245	ENSP00000362866:A290V;ENSP00000211287:A300V	ENSP00000211287:A300V	A	+	2	0	MAPK13	36214691	0.968000	0.33430	0.151000	0.22473	0.697000	0.40408	5.992000	0.70609	2.442000	0.82660	0.484000	0.47621	GCG		0.617	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			5	19	0	0	0	1	0	5	19				
DEPDC1B	55789	broad.mit.edu	37	5	59941425	59941425	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:59941425G>A	ENST00000265036.5	-	4	539	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R158C|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R131C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	158					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R158G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATACTGTGACGCTTGTACCAC	0.453																																						ENST00000265036.5																			1	Substitution - Missense(1)	p.R158G(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(472-474)Cgt>Tgt		DEP domain containing 1B							71.0	73.0	72.0					5																	59941425		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59941425G>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.472C>T	5.37:g.59941425G>A	ENSP00000265036:p.Arg158Cys					DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R131C|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R158C	p.R158C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			4	539	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	158					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.472C>T	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758418	0.89843	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.31769	2.2;1.89;1.48	5.72	5.72	0.89469	.	0.102227	0.64402	D	0.000004	T	0.45196	0.1330	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.53185	0.613;0.72	T	0.10291	-1.0636	9	.	.	.	-7.6136	20.2406	0.98372	0.0:0.0:1.0:0.0	.	158;158	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	C	158;158;131	ENSP00000265036:R158C;ENSP00000389101:R158C;ENSP00000438320:R131C	.	R	-	1	0	DEPDC1B	59977182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.066000	0.64351	2.857000	0.98124	0.650000	0.86243	CGT		0.453	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		6	28	0	0	0	1	0	6	28				
SLC35D3	340146	broad.mit.edu	37	6	137245294	137245294	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:137245294C>T	ENST00000331858.4	+	2	876	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	237					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TGATCGGCTGCGCCATGAACT	0.627																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(709-711)tgC>tgT		solute carrier family 35, member D3							68.0	53.0	58.0					6																	137245294		2203	4300	6503	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137245294C>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.711C>T	6.37:g.137245294C>T							p.C237C	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	876	+	Colorectal(23;0.24)		237					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.711C>T	CCDS34544.1																																																																																				0.627	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		7	8	0	0	0	1	0	7	8				
LAMA5	3911	broad.mit.edu	37	20	60889421	60889421	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60889421G>A	ENST00000252999.3	-	62	8509	c.8443C>T	c.(8443-8445)Cct>Tct	p.P2815S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2815	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGACTGCAGGGCCCGCCTCA	0.617																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(8443-8445)Cct>Tct		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106.0	88.0	94.0					20																	60889421		2201	4300	6501	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60889421G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8443C>T	20.37:g.60889421G>A	ENSP00000252999:p.Pro2815Ser						p.P2815S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		62	8509	-	Breast(26;1.57e-08)		2815			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.8443C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	9.853	1.194104	0.22037	.	.	ENSG00000130702	ENST00000252999	T	0.18657	2.2	3.88	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.336263	0.31031	U	0.008389	T	0.15305	0.0369	L	0.35288	1.05	0.21355	N	0.999719	P	0.42078	0.77	B	0.40375	0.327	T	0.14200	-1.0481	10	0.12766	T	0.61	.	12.5536	0.56240	0.0:0.1699:0.83:0.0	.	2815	O15230	LAMA5_HUMAN	S	2815	ENSP00000252999:P2815S	ENSP00000252999:P2815S	P	-	1	0	LAMA5	60322816	0.966000	0.33281	0.002000	0.10522	0.012000	0.07955	5.252000	0.65445	0.560000	0.29169	0.457000	0.33378	CCT		0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		9	22	0	0	0	1	0	9	22				
EPPK1	83481	broad.mit.edu	37	8	144946858	144946858	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144946858C>T	ENST00000525985.1	-	2	635	c.564G>A	c.(562-564)ctG>ctA	p.L188L				P58107	EPIPL_HUMAN	epiplakin 1	188						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCTCTGACAGCTTGTGCC	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(562-564)ctG>ctA		epiplakin 1							19.0	24.0	22.0					8																	144946858		2123	4222	6345	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946858C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.564G>A	8.37:g.144946858C>T							p.L188L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	635	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.564G>A																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	15	0	0	0	1	0	6	15				
TSPAN32	10077	broad.mit.edu	37	11	2324133	2324133	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2324133T>C	ENST00000182290.4	+	2	263	c.126T>C	c.(124-126)gcT>gcC	p.A42A	TSPAN32_ENST00000381121.3_Silent_p.A42A|TSPAN32_ENST00000483227.1_3'UTR|C11orf21_ENST00000381153.3_5'Flank|C11orf21_ENST00000470369.1_5'Flank|TSPAN32_ENST00000451520.2_Silent_p.A31A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	42					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCACTTTGCTGTCATCCGCC	0.632																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(124-126)gcT>gcC		tetraspanin 32							111.0	96.0	101.0					11																	2324133		2202	4299	6501	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2324133T>C	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.126T>C	11.37:g.2324133T>C						TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.A31A|TSPAN32_ENST00000381121.3_Silent_p.A42A	p.A42A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	263	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	42					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.126T>C	CCDS7733.1																																																																																				0.632	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		11	20	0	0	0	1	0	11	20				
VPS8	23355	broad.mit.edu	37	3	184567775	184567775	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184567775G>A	ENST00000437079.3	+	10	889	c.718G>A	c.(718-720)Gct>Act	p.A240T	VPS8_ENST00000436792.2_Missense_Mutation_p.A238T|VPS8_ENST00000446204.2_Missense_Mutation_p.A238T|VPS8_ENST00000287546.4_Missense_Mutation_p.A240T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	240							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATAACAGATGCTCATCCTCC	0.308																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(718-720)Gct>Act		vacuolar protein sorting 8 homolog (S. cerevisiae)							121.0	115.0	117.0					3																	184567775		1831	4077	5908	SO:0001583	missense	23355						zinc ion binding	g.chr3:184567775G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.718G>A	3.37:g.184567775G>A	ENSP00000397879:p.Ala240Thr					VPS8_ENST00000446204.2_Missense_Mutation_p.A238T|VPS8_ENST00000436792.2_Missense_Mutation_p.A238T|VPS8_ENST00000437079.3_Missense_Mutation_p.A240T	p.A240T	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		9	889	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		240					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.718G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277922	0.95459	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79784	0.993;0.982	T	0.00357	-1.1792	10	0.34782	T	0.22	-15.0597	19.757	0.96298	0.0:0.0:1.0:0.0	.	238;238	Q8N3P4-2;Q8N3P4-3	.;.	T	240;240;238;238	ENSP00000287546:A240T;ENSP00000397879:A240T;ENSP00000404704:A238T;ENSP00000405483:A238T	ENSP00000287546:A240T	A	+	1	0	VPS8	186050469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.678000	0.91216	0.460000	0.39030	GCT		0.308	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		11	24	0	0	0	1	0	11	24				
C9	735	broad.mit.edu	37	5	39341247	39341247	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:39341247C>T	ENST00000263408.4	-	4	572		c.e4+1		C9_ENST00000509186.1_Splice_Site	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAAATACACACCCATAGCCTG	0.453																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e4+1		complement component 9							91.0	93.0	92.0					5																	39341247		2203	4300	6503	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341247C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.476+1G>A	5.37:g.39341247C>T						C9_ENST00000509186.1_Splice_Site		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	572	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458433	0.63401	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2113	0.89871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39377004	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	3.943000	0.56621	2.590000	0.87494	0.563000	0.77884	.		0.453	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	14	34	0	0	0	1	0	14	34				
LRRC37A4P	55073	broad.mit.edu	37	17	43587769	43587769	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43587769C>T	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GATGAGGTAACTTTTTTGAAG	0.368																																						ENST00000253803.2																			0																																																			0							g.chr17:43587769C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587769C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.368	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		10	8	0	0	0	1	0	10	8				
SOX5	6660	broad.mit.edu	37	12	23687439	23687439	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:23687439G>A	ENST00000451604.2	-	15	2107	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	SOX5_ENST00000396007.2_Missense_Mutation_p.P283L|SOX5_ENST00000541536.1_Missense_Mutation_p.P548L|SOX5_ENST00000309359.1_Missense_Mutation_p.P656L|SOX5_ENST00000545921.1_Missense_Mutation_p.P659L|SOX5_ENST00000537393.1_Missense_Mutation_p.P634L|SOX5_ENST00000546136.1_Missense_Mutation_p.P656L|SOX5_ENST00000381381.2_Missense_Mutation_p.P548L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	669					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGTGGCAATGGGGATCTGTGC	0.502																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1966-1968)cCc>cTc		SRY (sex determining region Y)-box 5							53.0	47.0	49.0					12																	23687439		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23687439G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2006C>T	12.37:g.23687439G>A	ENSP00000398273:p.Pro669Leu					SOX5_ENST00000545921.1_Missense_Mutation_p.P659L|SOX5_ENST00000381381.2_Missense_Mutation_p.P548L|SOX5_ENST00000451604.2_Missense_Mutation_p.P669L|SOX5_ENST00000541536.1_Missense_Mutation_p.P548L|SOX5_ENST00000537393.1_Missense_Mutation_p.P634L|SOX5_ENST00000396007.2_Missense_Mutation_p.P283L|SOX5_ENST00000309359.1_Missense_Mutation_p.P656L	p.P656L			P35711	SOX5_HUMAN			14	1969	-			669					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1967C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001039	0.74818	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.64997	1.995	0.80722	D	1	D;D;P	0.76494	0.999;0.972;0.835	D;P;P	0.78314	0.991;0.715;0.628	T	0.68420	-0.5413	10	0.66056	D	0.02	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	548;669;283	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	L	656;656;548;669;634;548;283;659	ENSP00000437487:P656L;ENSP00000308927:P656L;ENSP00000370788:P548L;ENSP00000398273:P669L;ENSP00000439832:P634L;ENSP00000441973:P548L;ENSP00000379328:P283L;ENSP00000443520:P659L	ENSP00000308927:P656L	P	-	2	0	SOX5	23578706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.734000	0.98822	2.832000	0.97577	0.655000	0.94253	CCC		0.502	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		4	15	0	0	0	1	0	4	15				
PCDHGA1	56114	broad.mit.edu	37	5	140710637	140710637	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140710637A>G	ENST00000517417.1	+	1	386	c.386A>G	c.(385-387)aAc>aGc	p.N129S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N129S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	129	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)			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)			ATTAATGACAACACTCCCCAA	0.398																																						ENST00000517417.1																			0				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						c.(385-387)aAc>aGc									93.0	106.0	102.0					5																	140710637		2203	4300	6503	SO:0001583	missense	0							g.chr5:140710637A>G	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.386A>G	5.37:g.140710637A>G	ENSP00000431083:p.Asn129Ser					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N129S	p.N129S	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	386	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.386A>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810151	0.50421	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.30714	1.52;1.52	4.2	4.2	0.49525	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.116299	0.37623	N	0.002004	T	0.67924	0.2945	H	0.99682	4.7	0.28441	N	0.916789	D;D	0.56968	0.978;0.963	P;P	0.55391	0.775;0.45	T	0.75451	-0.3313	10	0.59425	D	0.04	.	13.4192	0.60987	1.0:0.0:0.0:0.0	.	129;129	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	129	ENSP00000431083:N129S;ENSP00000367345:N129S	ENSP00000367345:N129S	N	+	2	0	PCDHGA1	140690821	0.973000	0.33851	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	1.905000	0.55150	0.533000	0.62120	AAC		0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		43	93	0	0	0	1	0	43	93				
HDAC4	9759	broad.mit.edu	37	2	240009300	240009300	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240009300G>T	ENST00000345617.3	-	19	3175	c.2384C>A	c.(2383-2385)gCt>gAt	p.A795D	AC017028.8_ENST00000582701.1_RNA|AC017028.7_ENST00000579869.1_RNA|HDAC4_ENST00000543185.1_Missense_Mutation_p.A379D|MIR4441_ENST00000582623.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	795	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGGACCACAGCAAAGCCATT	0.582																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2383-2385)gCt>gAt		histone deacetylase 4							67.0	57.0	61.0					2																	240009300		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240009300G>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2384C>A	2.37:g.240009300G>T	ENSP00000264606:p.Ala795Asp					HDAC4_ENST00000543185.1_Missense_Mutation_p.A379D	p.A795D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	19	3175	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	795			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2384C>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.778029	0.90195	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.74209	-0.82;-0.82	3.76	3.76	0.43208	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96226	0.9164	10	0.87932	D	0	.	16.4579	0.84025	0.0:0.0:1.0:0.0	.	763;795	Q53SM2;P56524	.;HDAC4_HUMAN	D	795;683;379	ENSP00000264606:A795D;ENSP00000440481:A379D	ENSP00000264606:A795D	A	-	2	0	HDAC4	239674237	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.253000	0.95501	2.052000	0.61016	0.558000	0.71614	GCT		0.582	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		11	11	1	0	4.7546e-09	1	5.0353e-09	11	11				
VPS13B	157680	broad.mit.edu	37	8	100523416	100523416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100523416C>T	ENST00000358544.2	+	29	4495	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1437C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1462					protein transport (GO:0015031)			p.R1462S(1)|p.R1437S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAAAATGTCCGCCACAAGTT	0.378																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.R1462S(1)|p.R1437S(1)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4384-4386)Cgc>Tgc		vacuolar protein sorting 13 homolog B (yeast)							114.0	116.0	116.0					8																	100523416		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523416C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4384C>T	8.37:g.100523416C>T	ENSP00000351346:p.Arg1462Cys					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1437C|VPS13B_ENST00000395996.1_3'UTR	p.R1462C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4495	+	Breast(36;3.73e-07)		1462					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4384C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330292	0.81690	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.51325	0.71;0.71	5.36	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.64415	-0.6413	10	0.87932	D	0	.	15.142	0.72618	0.1419:0.8581:0.0:0.0	.	1461;1437;1462	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	C	1437;1462	ENSP00000349685:R1437C;ENSP00000351346:R1462C	ENSP00000349685:R1437C	R	+	1	0	VPS13B	100592592	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.751000	0.68720	2.669000	0.90835	0.585000	0.79938	CGC		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	55	0	0	0	1	0	21	55				
SH3BP4	23677	broad.mit.edu	37	2	235951390	235951390	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235951390T>C	ENST00000409212.1	+	4	2484	c.1977T>C	c.(1975-1977)ggT>ggC	p.G659G	SH3BP4_ENST00000344528.4_Silent_p.G659G|SH3BP4_ENST00000392011.2_Silent_p.G659G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	659					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCAAGTTTGGTAAGTTGCTCA	0.567																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1975-1977)ggT>ggC		SH3-domain binding protein 4							69.0	74.0	72.0					2																	235951390		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951390T>C	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1977T>C	2.37:g.235951390T>C						SH3BP4_ENST00000344528.4_Silent_p.G659G|SH3BP4_ENST00000392011.2_Silent_p.G659G	p.G659G			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2484	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	659					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.1977T>C	CCDS2513.1																																																																																				0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			11	33	0	0	0	1	0	11	33				
HAGH	3029	broad.mit.edu	37	16	1873023	1873023	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1873023C>T	ENST00000397356.3	-	2	498	c.92G>A	c.(91-93)gGa>gAa	p.G31E	HAGH_ENST00000455446.2_Missense_Mutation_p.G31E|HAGH_ENST00000566709.1_5'UTR|HAGH_ENST00000397353.2_5'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	31					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCAGAAAACTCCCAGCAGGGC	0.612																																					Pancreas(55;1048 1176 25227 40124 41333)	ENST00000397356.3																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5						c.(91-93)gGa>gAa		hydroxyacylglutathione hydrolase	Glutathione(DB00143)						100.0	102.0	101.0					16																	1873023		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1873023C>T	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.92G>A	16.37:g.1873023C>T	ENSP00000380514:p.Gly31Glu					HAGH_ENST00000397353.2_5'UTR|HAGH_ENST00000566709.1_5'UTR|HAGH_ENST00000455446.2_Missense_Mutation_p.G31E	p.G31E	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN			2	498	-		Hepatocellular(780;0.00335)	31					A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.92G>A	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812402	0.32053	.	.	ENSG00000063854	ENST00000455446;ENST00000397356	D	0.95656	-3.77	5.45	5.45	0.79879	.	1.002150	0.08046	U	0.995852	D	0.92512	0.7622	N	0.19112	0.55	0.80722	D	1	D;D;P	0.53619	0.961;0.961;0.808	P;P;B	0.44597	0.454;0.454;0.274	D	0.86949	0.2084	10	0.25106	T	0.35	5.1035	16.7961	0.85602	0.0:1.0:0.0:0.0	.	31;31;31	E7EN93;B4DT01;Q16775	.;.;GLO2_HUMAN	E	31	ENSP00000380514:G31E	ENSP00000380514:G31E	G	-	2	0	HAGH	1813024	0.956000	0.32656	0.963000	0.40424	0.169000	0.22640	2.209000	0.42806	2.732000	0.93576	0.650000	0.86243	GGA		0.612	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		27	27	0	0	0	1	0	27	27				
SMG9	56006	broad.mit.edu	37	19	44241781	44241781	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44241781G>A	ENST00000270066.6	-	9	1305	c.963C>T	c.(961-963)gtC>gtT	p.V321V	SMG9_ENST00000601170.1_Silent_p.V321V	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	321					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ACCAGTCCTGGACAACAATCA	0.572																																						ENST00000601170.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						c.(961-963)gtC>gtT		SMG9 nonsense mediated mRNA decay factor							133.0	102.0	113.0					19																	44241781		2203	4300	6503	SO:0001819	synonymous_variant	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44241781G>A	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.963C>T	19.37:g.44241781G>A						SMG9_ENST00000270066.6_Silent_p.V321V	p.V321V			Q9H0W8	SMG9_HUMAN			9	1277	-			321					O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	c.963C>T	CCDS33043.2																																																																																				0.572	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		10	26	0	0	0	1	0	10	26				
C5orf42	65250	broad.mit.edu	37	5	37170174	37170174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37170174G>A	ENST00000508244.1	-	32	6524	c.6431C>T	c.(6430-6432)cCa>cTa	p.P2144L	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2144L|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1024L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2144						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGACCAGATGGGATAGTTCC	0.443																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3070-3072)cCa>cTa		chromosome 5 open reading frame 42							196.0	193.0	194.0					5																	37170174		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37170174G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6431C>T	5.37:g.37170174G>A	ENSP00000421690:p.Pro2144Leu					C5orf42_ENST00000508244.1_Missense_Mutation_p.P2144L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2144L	p.P1024L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	6658	-	all_lung(31;0.000616)		2144					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3071C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917792	0.33815	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.68	-1.57	0.08506	.	0.813875	0.10688	N	0.645537	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34700	-0.9818	10	0.22109	T	0.4	.	0.38	0.00393	0.2753:0.1431:0.223:0.3587	.	2144;1024	E9PH94;Q9H799	.;CE042_HUMAN	L	2144;2144;1024;1192;1024	ENSP00000421690:P2144L;ENSP00000389014:P2144L;ENSP00000274258:P1024L;ENSP00000424223:P1192L	ENSP00000274258:P1024L	P	-	2	0	C5orf42	37205931	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.686000	0.05161	-0.494000	0.06669	-0.397000	0.06425	CCA		0.443	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		72	93	0	0	0	1	0	72	93				
SPICE1	152185	broad.mit.edu	37	3	113172662	113172662	+	Missense_Mutation	SNP	C	C	T	rs533178014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113172662C>T	ENST00000295872.4	-	14	2052	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	598					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTGAAGAGACGATTCTCTTC	0.428																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1792-1794)cGt>cAt		spindle and centriole associated protein 1							122.0	123.0	123.0					3																	113172662		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172662C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1793G>A	3.37:g.113172662C>T	ENSP00000295872:p.Arg598His						p.R598H	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2052	-			598					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1793G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801486	0.31869	.	.	ENSG00000163611	ENST00000295872	T	0.32753	1.44	5.48	1.1	0.20463	.	0.315238	0.30840	N	0.008764	T	0.15349	0.0370	N	0.20685	0.6	0.27556	N	0.950339	B;B	0.17465	0.022;0.005	B;B	0.12156	0.007;0.003	T	0.10941	-1.0608	10	0.38643	T	0.18	-3.4341	4.2093	0.10503	0.1788:0.5674:0.0:0.2538	.	494;598	B3KX77;Q8N0Z3	.;SPICE_HUMAN	H	598	ENSP00000295872:R598H	ENSP00000295872:R598H	R	-	2	0	SPICE1	114655352	0.690000	0.27699	0.935000	0.37517	0.981000	0.71138	0.114000	0.15520	0.180000	0.19960	0.557000	0.71058	CGT		0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		10	60	0	0	0	1	0	10	60				
EEF1D	1936	broad.mit.edu	37	8	144659250	144659250	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144659250G>A	ENST00000529272.1	-	0	1311				NAPRT1_ENST00000276844.7_Silent_p.S222S|NAPRT1_ENST00000426292.3_Silent_p.S222S|NAPRT1_ENST00000449291.2_Silent_p.S222S|NAPRT1_ENST00000435154.3_Silent_p.S222S|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCACCTCGCTGCCTGAAA	0.672																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(664-666)agC>agT		nicotinate phosphoribosyltransferase domain containing 1							40.0	44.0	42.0					8																	144659250		2200	4300	6500	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144659250G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659250G>A						NAPRT1_ENST00000276844.7_Silent_p.S222S|NAPRT1_ENST00000435154.3_Silent_p.S222S|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Silent_p.S222S	p.S222S			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	960	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		222					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.666C>T	CCDS6405.1																																																																																				0.672	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		13	13	0	0	0	1	0	13	13				
BAI2	576	broad.mit.edu	37	1	32196527	32196527	+	Silent	SNP	G	G	T	rs550672929		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32196527G>T	ENST00000373658.3	-	29	4595	c.4254C>A	c.(4252-4254)ccC>ccA	p.P1418P	BAI2_ENST00000398542.1_Silent_p.P1318P|BAI2_ENST00000440175.2_Silent_p.P1027P|BAI2_ENST00000398547.1_Silent_p.P1351P|BAI2_ENST00000257070.4_Silent_p.P1385P|BAI2_ENST00000398538.1_Silent_p.P1406P|BAI2_ENST00000398556.3_Silent_p.P1333P|BAI2_ENST00000527361.1_Silent_p.P1385P|BAI2_ENST00000373655.2_Silent_p.P1418P|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1418					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCATTCCATAGGGATTCTGGA	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(4252-4254)ccC>ccA		brain-specific angiogenesis inhibitor 2							37.0	50.0	45.0					1																	32196527		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196527G>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4254C>A	1.37:g.32196527G>T						BAI2_ENST00000398538.1_Silent_p.P1406P|BAI2_ENST00000527361.1_Silent_p.P1385P|BAI2_ENST00000373655.2_Silent_p.P1418P|BAI2_ENST00000398542.1_Silent_p.P1318P|BAI2_ENST00000440175.2_Silent_p.P1027P|BAI2_ENST00000398556.3_Silent_p.P1333P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Silent_p.P1351P|BAI2_ENST00000257070.4_Silent_p.P1385P	p.P1418P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4595	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1418					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.4254C>A	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		11	33	1	0	2.32078e-09	1	2.46314e-09	11	33				
PSMB8	5696	broad.mit.edu	37	6	32805627	32805627	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32805627C>T	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.E128E|TAP2_ENST00000452392.2_Silent_p.E128E|TAP2_ENST00000374899.4_Silent_p.E128E	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CCTGGTCCTGCTCCTTCTCCT	0.622																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374897.2																			0											c.(382-384)gaG>gaA		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							72.0	76.0	75.0					6																	32805627		1510	2709	4219	SO:0001628	intergenic_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805627C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805627C>T						TAP2_ENST00000452392.2_Silent_p.E128E|TAP2_ENST00000374899.4_Silent_p.E128E	p.E128E	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			2	515	-			128					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.384G>A	CCDS4757.1																																																																																				0.622	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		6	50	0	0	0	1	0	6	50				
PCNXL3	399909	broad.mit.edu	37	11	65401666	65401666	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65401666G>A	ENST00000355703.3	+	28	5079	c.4540G>A	c.(4540-4542)Gcc>Acc	p.A1514T	PCNXL3_ENST00000531280.1_3'UTR|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1514						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATCACGGCAGCCCTGAGGCC	0.647																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4540-4542)Gcc>Acc		pecanex-like 3 (Drosophila)							30.0	36.0	34.0					11																	65401666		2094	4202	6296	SO:0001583	missense	399909					integral to membrane		g.chr11:65401666G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4540G>A	11.37:g.65401666G>A	ENSP00000347931:p.Ala1514Thr					PCNXL3_ENST00000531280.1_3'UTR	p.A1514T	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			28	5079	+			1514					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4540G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172036	0.57584	.	.	ENSG00000197136	ENST00000355703	T	0.08102	3.13	4.5	4.5	0.54988	.	0.064339	0.64402	D	0.000010	T	0.15478	0.0373	L	0.45352	1.415	0.49582	D	0.999807	B;D	0.61697	0.12;0.99	B;P	0.54238	0.099;0.746	T	0.01420	-1.1359	10	0.39692	T	0.17	.	15.0671	0.72005	0.0:0.0:1.0:0.0	.	401;1514	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	T	1514	ENSP00000347931:A1514T	ENSP00000347931:A1514T	A	+	1	0	PCNXL3	65158242	1.000000	0.71417	0.662000	0.29724	0.069000	0.16628	7.480000	0.81109	2.239000	0.73571	0.561000	0.74099	GCC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		6	6	0	0	0	1	0	6	6				
PCDHGB3	56102	broad.mit.edu	37	5	140750264	140750264	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140750264G>A	ENST00000576222.1	+	1	434	c.303G>A	c.(301-303)acG>acA	p.T101T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	101	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGTCGACGTGTGTTCTGG	0.433																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(301-303)acG>acA									172.0	173.0	173.0					5																	140750264		1865	4113	5978	SO:0001819	synonymous_variant	0							g.chr5:140750264G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.303G>A	5.37:g.140750264G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.T101T	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	434	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.303G>A	CCDS58980.1																																																																																				0.433	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		5	186	0	0	0	1	0	5	186				
CIITA	4261	broad.mit.edu	37	16	10989172	10989172	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10989172C>A	ENST00000324288.8	+	2	219	c.86C>A	c.(85-87)cCc>cAc	p.P29H	CIITA_ENST00000381835.5_Missense_Mutation_p.P29H|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	29					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGTTGGGGCCCCTAGAAGGT	0.542			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(85-87)cCc>cAc		class II, major histocompatibility complex, transactivator							72.0	67.0	69.0					16																	10989172		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10989172C>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.86C>A	16.37:g.10989172C>A	ENSP00000316328:p.Pro29His					CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P29H	p.P29H	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			2	219	+			29					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.86C>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168628	0.21621	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75367	-0.93;1.47	4.18	3.22	0.36961	.	0.361515	0.20102	N	0.099201	T	0.79569	0.4468	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;0.983;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.70487	0.969;0.536;0.935;0.935;0.955;0.931	T	0.68138	-0.5488	10	0.87932	D	0	.	8.0912	0.30801	0.0:0.8848:0.0:0.1152	.	29;29;29;29;29;29	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	H	29	ENSP00000316328:P29H;ENSP00000371257:P29H	ENSP00000316328:P29H	P	+	2	0	CIITA	10896673	0.001000	0.12720	0.084000	0.20598	0.034000	0.12701	1.280000	0.33202	0.877000	0.35895	0.462000	0.41574	CCC		0.542	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		11	25	1	0	7.03913e-09	1	7.44699e-09	11	25				
ABCA13	154664	broad.mit.edu	37	7	48314266	48314266	+	Missense_Mutation	SNP	G	G	A	rs566240276		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48314266G>A	ENST00000435803.1	+	17	5027	c.5003G>A	c.(5002-5004)cGt>cAt	p.R1668H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1668					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1668H(1)|p.R1613H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGTCATGCGTACCCTTAAG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22705	0.0		0.001	False		,,,				2504	0.0					ENST00000435803.1																			2	Substitution - Missense(2)	p.R1668H(1)|p.R1613H(1)	endometrium(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5002-5004)cGt>cAt		ATP-binding cassette, sub-family A (ABC1), member 13							160.0	152.0	155.0					7																	48314266		1911	4117	6028	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314266G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5003G>A	7.37:g.48314266G>A	ENSP00000411096:p.Arg1668His						p.R1668H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5027	+			1668					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5003G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347516	0.01266	.	.	ENSG00000179869	ENST00000435803	D	0.85088	-1.94	5.58	-8.31	0.01001	.	0.872659	0.09787	N	0.755903	T	0.64382	0.2593	N	0.08118	0	0.31851	N	0.622211	B	0.15719	0.014	B	0.08055	0.003	T	0.48068	-0.9067	9	.	.	.	.	12.4639	0.55747	0.7471:0.0:0.1605:0.0924	.	1668	Q86UQ4	ABCAD_HUMAN	H	1668	ENSP00000411096:R1668H	.	R	+	2	0	ABCA13	48284812	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.393000	0.07305	-1.747000	0.01333	-0.251000	0.11542	CGT		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		44	60	0	0	0	1	0	44	60				
SLC25A37	51312	broad.mit.edu	37	8	23429210	23429210	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23429210C>T	ENST00000519973.1	+	4	1057	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTA	0.607																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(859-861)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 37							31.0	34.0	33.0					8																	23429210		1971	4138	6109	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429210C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.859C>T	8.37:g.23429210C>T	ENSP00000429200:p.Arg287Trp						p.R287W	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	1057	+		Prostate(55;0.114)	287					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.859C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696408	0.68386	.	.	ENSG00000147454	ENST00000519973	T	0.80909	-1.43	5.8	4.92	0.64577	Mitochondrial carrier domain (2);	0.051108	0.85682	D	0.000000	D	0.91188	0.7224	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92845	0.6292	10	0.87932	D	0	-9.8826	13.573	0.61858	0.2817:0.7183:0.0:0.0	.	287	Q9NYZ2	MFRN1_HUMAN	W	287	ENSP00000429200:R287W	ENSP00000429200:R287W	R	+	1	2	SLC25A37	23485155	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.615000	0.24329	1.436000	0.47453	0.650000	0.86243	CGG		0.607	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		14	21	0	0	0	1	0	14	21				
GRIN2A	2903	broad.mit.edu	37	16	9858384	9858384	+	Missense_Mutation	SNP	G	G	A	rs200526162		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9858384G>A	ENST00000396573.2	-	14	3326	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1006V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1006V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A849V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTAGAGTTCGCTTTGGATTC	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		17591	0.001		0.0	False		,,,				2504	0.0					ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3016-3018)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						93.0	92.0	92.0					16																	9858384		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858384G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3017C>T	16.37:g.9858384G>A	ENSP00000379818:p.Ala1006Val					GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1006V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A849V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1006V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1006V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1006V	p.A1006V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3326	-			1006					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3017C>T	CCDS10539.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.089	-1.170997	0.01660	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.33	-0.758	0.11049	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.900640	0.09924	N	0.738120	T	0.03434	0.0099	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.09377	0.002;0.004;0.0	T	0.46275	-0.9203	9	.	.	.	.	12.7121	0.57096	0.2898:0.1644:0.5459:0.0	.	849;1006;1006	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	1006;1006;849;1006;1006	ENSP00000379818:A1006V;ENSP00000385872:A1006V;ENSP00000441572:A849V;ENSP00000332549:A1006V;ENSP00000379820:A1006V	.	A	-	2	0	GRIN2A	9765885	0.013000	0.17824	0.276000	0.24689	0.156000	0.22039	0.223000	0.17719	-0.290000	0.09025	-0.960000	0.02634	GCG		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			29	40	0	0	0	1	0	29	40				
NFASC	23114	broad.mit.edu	37	1	204966414	204966414	+	Missense_Mutation	SNP	G	G	A	rs566469690		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204966414G>A	ENST00000401399.1	+	24	3098	c.2899G>A	c.(2899-2901)Gca>Aca	p.A967T	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.A1074T|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1059T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.A1074T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.A967T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367170.4_Intron			O94856	NFASC_HUMAN	neurofascin	1074	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAACTGTCGCACCTaccac	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.001		0.0	False		,,,				2504	0.0					ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(3220-3222)Gca>Aca		neurofascin							224.0	273.0	258.0					1																	204966414		1567	3582	5149	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204966414G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2899G>A	1.37:g.204966414G>A	ENSP00000385637:p.Ala967Thr					NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.A1074T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1059T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.A967T|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.A967T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron	p.A1074T			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		27	3548	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1074			Thr-rich.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.3220G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503410	0.44558	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000338515;ENST00000339876;ENST00000401399;ENST00000447819	T;T;T;T;T;T	0.78126	-0.05;0.57;-0.04;-0.07;-0.07;-1.15	5.01	4.1	0.47936	.	0.677066	0.12426	N	0.469983	T	0.60586	0.2280	.	.	.	0.80722	D	1	P;B	0.34462	0.454;0.001	B;B	0.23852	0.049;0.002	T	0.52026	-0.8630	9	0.20046	T	0.44	.	9.3926	0.38383	0.0991:0.0:0.9009:0.0	.	1074;967	O94856-7;O94856-9	.;.	T	1074;1059;1074;967;967;35	ENSP00000356140:A1074T;ENSP00000356139:A1059T;ENSP00000342128:A1074T;ENSP00000344786:A967T;ENSP00000385637:A967T;ENSP00000416891:A35T	ENSP00000342128:A1074T	A	+	1	0	NFASC	203233037	0.952000	0.32445	0.994000	0.49952	0.995000	0.86356	2.056000	0.41355	1.112000	0.41740	0.655000	0.94253	GCA		0.637	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		8	3	0	0	0	1	0	8	3				
ARHGAP33	115703	broad.mit.edu	37	19	36271177	36271177	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36271177C>T	ENST00000007510.4	+	7	710	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A189V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A53V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	189	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.A189V(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCTGCAGTGGCGGCCGCCCAT	0.592																																						ENST00000007510.4																			1	Substitution - Missense(1)	p.A189V(1)	large_intestine(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(565-567)gCg>gTg		Rho GTPase activating protein 33							45.0	46.0	45.0					19																	36271177		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271177C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.566C>T	19.37:g.36271177C>T	ENSP00000007510:p.Ala189Val					ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A189V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A53V	p.A189V			O14559	RHG33_HUMAN			7	710	+			189			SH3.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932910	0.73442	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27890	1.64;1.64;1.64	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.52741	0.1753	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.55347	-0.8155	10	0.62326	D	0.03	.	16.6967	0.85337	0.0:1.0:0.0:0.0	.	53;189	O14559-10;O14559-11	.;.	V	189;189;53	ENSP00000007510:A189V;ENSP00000320038:A189V;ENSP00000368227:A53V	ENSP00000007510:A189V	A	+	2	0	ARHGAP33	40963017	1.000000	0.71417	0.956000	0.39512	0.031000	0.12232	7.382000	0.79729	2.227000	0.72691	0.561000	0.74099	GCG		0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		27	18	0	0	0	1	0	27	18				
CECR5	27440	broad.mit.edu	37	22	17619480	17619480	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17619480G>A	ENST00000336737.4	-	7	920	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.R269W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	299						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GCCCAGCCCCGCCTCTCCGCC	0.612																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(895-897)Cgg>Tgg		cat eye syndrome chromosome region, candidate 5							120.0	127.0	125.0					22																	17619480		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619480G>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.895C>T	22.37:g.17619480G>A	ENSP00000337358:p.Arg299Trp					CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.R269W	p.R299W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	920	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	299					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.895C>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265298	0.10294	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.22945	1.93;1.93	4.43	1.04	0.20106	HAD-like domain (2);	0.204910	0.41294	N	0.000903	T	0.22898	0.0553	M	0.78637	2.42	0.80722	D	1	B;B;B	0.32693	0.111;0.231;0.38	B;B;B	0.27715	0.03;0.022;0.082	T	0.02829	-1.1105	10	0.38643	T	0.18	-9.4691	4.9552	0.14035	0.1562:0.0:0.4166:0.4272	.	269;299;163	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	W	269;299	ENSP00000155674:R269W;ENSP00000337358:R299W	ENSP00000155674:R269W	R	-	1	2	CECR5	15999480	0.137000	0.22531	0.804000	0.32291	0.014000	0.08584	1.278000	0.33179	0.198000	0.20407	-0.335000	0.08231	CGG		0.612	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		47	77	0	0	0	1	0	47	77				
TUBAL3	79861	broad.mit.edu	37	10	5436177	5436177	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5436177G>A	ENST00000380419.3	-	4	681	c.644C>T	c.(643-645)gCc>gTc	p.A215V	TUBAL3_ENST00000479328.1_Missense_Mutation_p.A175V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	215					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ATCATAGACGGCCTCGTTGTC	0.522																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(643-645)gCc>gTc		tubulin, alpha-like 3							148.0	122.0	130.0					10																	5436177		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436177G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.644C>T	10.37:g.5436177G>A	ENSP00000369784:p.Ala215Val					TUBAL3_ENST00000479328.1_Missense_Mutation_p.A175V	p.A215V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			4	681	-			215					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.644C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463704	0.63513	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.72505	-0.66;-0.66	4.2	4.2	0.49525	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47093	D	0.000242	D	0.87374	0.6161	M	0.93106	3.38	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90840	0.4723	10	0.87932	D	0	.	16.0115	0.80406	0.0:0.0:1.0:0.0	.	175;215	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	V	215;175	ENSP00000369784:A215V;ENSP00000418799:A175V	ENSP00000369784:A215V	A	-	2	0	TUBAL3	5426177	1.000000	0.71417	0.964000	0.40570	0.115000	0.19883	7.740000	0.84986	2.292000	0.77174	0.650000	0.86243	GCC		0.522	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		13	19	0	0	0	1	0	13	19				
DNAH7	56171	broad.mit.edu	37	2	196799426	196799426	+	Silent	SNP	G	G	A	rs199987634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196799426G>A	ENST00000312428.6	-	21	3460	c.3360C>T	c.(3358-3360)agC>agT	p.S1120S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1120	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCTCCTTCGCTGCTCTTCA	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3358-3360)agC>agT		dynein, axonemal, heavy chain 7							134.0	128.0	130.0					2																	196799426		1865	4105	5970	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196799426G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3360C>T	2.37:g.196799426G>A							p.S1120S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			21	3460	-			1120			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3360C>T	CCDS42794.1																																																																																				0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		43	70	0	0	0	1	0	43	70				
C8A	731	broad.mit.edu	37	1	57347138	57347138	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:57347138A>T	ENST00000361249.3	+	5	581	c.485A>T	c.(484-486)gAa>gTa	p.E162V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	162	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGACCCAGGAAGATGCTCAG	0.458																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(484-486)gAa>gTa		complement component 8, alpha polypeptide							150.0	152.0	151.0					1																	57347138		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57347138A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.485A>T	1.37:g.57347138A>T	ENSP00000354458:p.Glu162Val						p.E162V	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			5	581	+			162			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.485A>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409164	0.62399	.	.	ENSG00000157131	ENST00000361249	T	0.78003	-1.14	5.56	3.22	0.36961	Membrane attack complex component/perforin (MACPF) domain (1);	0.672169	0.16427	N	0.214882	T	0.81955	0.4932	M	0.86953	2.85	0.46521	D	0.99908	P	0.48834	0.916	P	0.47376	0.545	T	0.80614	-0.1304	10	0.87932	D	0	-4.4817	8.1436	0.31097	0.7947:0.1356:0.0697:0.0	.	162	P07357	CO8A_HUMAN	V	162	ENSP00000354458:E162V	ENSP00000354458:E162V	E	+	2	0	C8A	57119726	1.000000	0.71417	0.007000	0.13788	0.710000	0.40934	5.128000	0.64733	0.386000	0.24997	0.533000	0.62120	GAA		0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		30	48	0	0	0	1	0	30	48				
MYOT	9499	broad.mit.edu	37	5	137217729	137217729	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137217729C>T	ENST00000239926.4	+	6	1125	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R136C|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R67C	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	251	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.R251S(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACCCACCACGTTTCATTCA	0.398																																						ENST00000239926.4																			1	Substitution - Missense(1)	p.R251S(1)	lung(1)	cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(751-753)Cgt>Tgt		myotilin							114.0	112.0	113.0					5																	137217729		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137217729C>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.751C>T	5.37:g.137217729C>T	ENSP00000239926:p.Arg251Cys					MYOT_ENST00000421631.2_Missense_Mutation_p.R67C|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R136C|MYOT_ENST00000509812.1_Intron	p.R251C	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1125	+			251			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.751C>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766597	0.90020	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.33;-0.33;-0.33	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.83464	0.5260	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85115	0.0965	10	0.54805	T	0.06	.	14.5573	0.68109	0.1463:0.8537:0.0:0.0	.	251	Q9UBF9	MYOTI_HUMAN	C	251;67;136	ENSP00000239926:R251C;ENSP00000391185:R67C;ENSP00000426281:R136C	ENSP00000239926:R251C	R	+	1	0	MYOT	137245628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.748000	0.68697	2.669000	0.90835	0.467000	0.42956	CGT		0.398	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		23	31	0	0	0	1	0	23	31				
ASXL1	171023	broad.mit.edu	37	20	31025073	31025073	+	Missense_Mutation	SNP	G	G	A	rs146743741		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31025073G>A	ENST00000375687.4	+	13	4982	c.4558G>A	c.(4558-4560)Ggt>Agt	p.G1520S	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1515S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1520					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAAGGCTGCGGTGCGTTCTG	0.473			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(4558-4560)Ggt>Agt		additional sex combs like 1 (Drosophila)							146.0	127.0	133.0					20																	31025073		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31025073G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4558G>A	20.37:g.31025073G>A	ENSP00000364839:p.Gly1520Ser					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1515S	p.G1520S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4982	+			1520					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4558G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812452	0.90707	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.75260	-0.9;-0.92	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87067	0.2157	10	0.87932	D	0	-16.6291	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1515;1520	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1520;1520;1520;1441;1515	ENSP00000364839:G1520S;ENSP00000305119:G1515S	ENSP00000305119:G1515S	G	+	1	0	ASXL1	30488734	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.203000	0.95033	2.941000	0.99782	0.655000	0.94253	GGT		0.473	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		46	58	0	0	0	1	0	46	58				
DNAH1	25981	broad.mit.edu	37	3	52430755	52430755	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52430755G>A	ENST00000420323.2	+	72	11813	c.11552G>A	c.(11551-11553)cGc>cAc	p.R3851H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3916	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGATCTGCGCATCTGCATC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11551-11553)cGc>cAc		dynein, axonemal, heavy chain 1							153.0	154.0	154.0					3																	52430755		2018	4180	6198	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430755G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11552G>A	3.37:g.52430755G>A	ENSP00000401514:p.Arg3851His						p.R3851H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11813	+			3916			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11552G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826055	0.71143	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.10288	2.89	4.34	4.34	0.51931	.	0.158454	0.43747	D	0.000528	T	0.37348	0.1000	M	0.82433	2.59	0.41464	D	0.988067	D;D	0.89917	0.997;1.0	P;D	0.83275	0.879;0.996	T	0.42949	-0.9421	10	0.72032	D	0.01	.	17.0266	0.86448	0.0:0.0:1.0:0.0	.	3851;3916	C9JXH6;Q9P2D7-2	.;.	H	3851;604	ENSP00000401514:R3851H	ENSP00000273600:R604H	R	+	2	0	DNAH1	52405795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.701000	0.61810	2.248000	0.74166	0.591000	0.81541	CGC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		9	126	0	0	0	1	0	9	126				
MAP1B	4131	broad.mit.edu	37	5	71495575	71495575	+	Silent	SNP	G	G	A	rs149330290		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71495575G>A	ENST00000296755.7	+	5	6691	c.6393G>A	c.(6391-6393)ccG>ccA	p.P2131P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2131					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)			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)		GAGCCCCACCGCCTCCAGGAG	0.567																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(6391-6393)ccG>ccA		microtubule-associated protein 1B		G		0,4406		0,0,2203	71.0	73.0	72.0		6393	-7.0	0.8	5	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MAP1B	NM_005909.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2131/2469	71495575	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495575G>A	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.6393G>A	5.37:g.71495575G>A							p.P2131P	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6691	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2131					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.6393G>A	CCDS4012.1																																																																																				0.567	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		24	34	0	0	0	1	0	24	34				
XIRP2	129446	broad.mit.edu	37	2	168099595	168099595	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168099595G>A	ENST00000409195.1	+	9	1782	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E343K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E565K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	390					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATACTTGGAATGGGATGA	0.418																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1693-1695)Gaa>Aaa		xin actin-binding repeat containing 2							53.0	51.0	52.0					2																	168099595		1858	4099	5957	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099595G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1693G>A	2.37:g.168099595G>A	ENSP00000386840:p.Glu565Lys					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E565K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E343K|XIRP2_ENST00000409043.1_Intron	p.E565K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1782	+			390					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1693G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995092	0.74703	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03413	3.94;3.94;3.94	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	L	0.54323	1.7	0.80722	D	1	P;P;D	0.69078	0.908;0.944;0.997	B;P;P	0.57960	0.444;0.646;0.83	T	0.01124	-1.1444	10	0.59425	D	0.04	-12.0601	16.2085	0.82144	0.0:0.1332:0.8668:0.0	.	390;390;343	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	565;565;343	ENSP00000386840:E565K;ENSP00000295237:E565K;ENSP00000387255:E343K	ENSP00000295237:E565K	E	+	1	0	XIRP2	167807841	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	3.340000	0.52143	1.318000	0.45170	0.655000	0.94253	GAA		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	28	0	0	0	1	0	21	28				
NACA	4666	broad.mit.edu	37	12	57113481	57113481	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57113481A>G	ENST00000454682.1	-	3	2114	c.1833T>C	c.(1831-1833)ccT>ccC	p.P611P	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	611	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAACACCCAGAGGGGAGGTCA	0.517			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1831-1833)ccT>ccC		nascent polypeptide-associated complex alpha subunit							47.0	47.0	47.0					12																	57113481		1568	3582	5150	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113481A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1833T>C	12.37:g.57113481A>G						NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	p.P611P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2114	-			82						Silent	SNP	ENST00000454682.1	37	c.1833T>C																																																																																					0.517	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		16	17	0	0	0	1	0	16	17				
XPO5	57510	broad.mit.edu	37	6	43540301	43540301	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43540301C>A	ENST00000265351.7	-	3	452	c.242G>T	c.(241-243)gGc>gTc	p.G81V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	81	Necessary for interaction with Ran.			G -> S (in Ref. 1; AAG53603). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCGAGACATGCCGTTCCACCG	0.408																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(241-243)gGc>gTc		exportin 5							178.0	166.0	169.0					6																	43540301		1962	4159	6121	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43540301C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.242G>T	6.37:g.43540301C>A	ENSP00000265351:p.Gly81Val						p.G81V	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		3	452	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		81	G -> S (in Ref. 1; AAG53603).		Necessary for interaction with Ran.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.242G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803179	0.31869	.	.	ENSG00000124571	ENST00000265351	T	0.66638	-0.22	4.88	-0.363	0.12556	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (1);	0.404222	0.28958	N	0.013582	T	0.16642	0.0400	N	0.03608	-0.345	0.46061	D	0.998843	B	0.06786	0.001	B	0.04013	0.001	T	0.02885	-1.1098	10	0.25751	T	0.34	-0.9988	5.0732	0.14617	0.0:0.2321:0.282:0.4859	.	81	Q9HAV4	XPO5_HUMAN	V	81	ENSP00000265351:G81V	ENSP00000265351:G81V	G	-	2	0	XPO5	43648279	0.990000	0.36364	0.998000	0.56505	0.985000	0.73830	0.214000	0.17541	0.210000	0.20664	0.655000	0.94253	GGC		0.408	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		26	30	1	0	1.26454e-06	1	1.31807e-06	26	30				
ATP11A	23250	broad.mit.edu	37	13	113479755	113479755	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113479755C>T	ENST00000487903.1	+	11	972	c.884C>T	c.(883-885)gCg>gTg	p.A295V	ATP11A_ENST00000375630.2_Missense_Mutation_p.A295V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A295V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A295V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	295					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCGATGAATGCGTTCCTCATT	0.473																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(883-885)gCg>gTg		ATPase, class VI, type 11A							140.0	107.0	118.0					13																	113479755		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113479755C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.884C>T	13.37:g.113479755C>T	ENSP00000420387:p.Ala295Val					ATP11A_ENST00000375630.2_Missense_Mutation_p.A295V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A295V|ATP11A_ENST00000375645.3_Missense_Mutation_p.A295V	p.A295V			P98196	AT11A_HUMAN			11	972	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	295					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.884C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.539|3.539	-0.094156|-0.094156	0.07053|0.07053	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.90620|.	-2.7;-2.7;-2.7;-2.7|.	5.2|5.2	-2.2|-2.2	0.06994|0.06994	ATPase, P-type, ATPase-associated domain (1);|.	0.426190|.	0.26959|.	N|.	0.021628|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.12182|0.12182	0.205|0.205	0.24690|0.24690	N|N	0.993312|0.993312	B;B;B|.	0.11235|.	0.004;0.002;0.0|.	B;B;B|.	0.16722|.	0.016;0.005;0.003|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|5	0.10111|.	T|.	0.7|.	.|.	11.4733|11.4733	0.50282|0.50282	0.0:0.5067:0.0:0.4933|0.0:0.5067:0.0:0.4933	.|.	295;295;295|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	V|C	295|270	ENSP00000420387:A295V;ENSP00000364781:A295V;ENSP00000364796:A295V;ENSP00000283558:A295V|.	ENSP00000283558:A295V|.	A|R	+|+	2|1	0|0	ATP11A|ATP11A	112527756|112527756	0.169000|0.169000	0.23002|0.23002	0.025000|0.025000	0.17156|0.17156	0.026000|0.026000	0.11368|0.11368	0.325000|0.325000	0.19628|0.19628	-0.072000|-0.072000	0.12864|0.12864	-0.459000|-0.459000	0.05422|0.05422	GCG|CGT		0.473	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		22	41	0	0	0	1	0	22	41				
DSC3	1825	broad.mit.edu	37	18	28602420	28602420	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28602420G>A	ENST00000360428.4	-	7	904	c.824C>T	c.(823-825)aCa>aTa	p.T275I	DSC3_ENST00000434452.1_Missense_Mutation_p.T275I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	275	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CGTATGCATTGTGTCCGGTTC	0.443																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(823-825)aCa>aTa		desmocollin 3							148.0	128.0	135.0					18																	28602420		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602420G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.824C>T	18.37:g.28602420G>A	ENSP00000353608:p.Thr275Ile					DSC3_ENST00000360428.4_Missense_Mutation_p.T275I	p.T275I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	978	-			275			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.824C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736806	0.69304	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54866	0.55;0.55	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	N	0.004227	T	0.78729	0.4329	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83759	0.0213	10	0.87932	D	0	.	17.3489	0.87317	0.0:0.0:1.0:0.0	.	275;275	Q14574;Q14574-2	DSC3_HUMAN;.	I	275	ENSP00000353608:T275I;ENSP00000392068:T275I	ENSP00000353608:T275I	T	-	2	0	DSC3	26856418	1.000000	0.71417	0.981000	0.43875	0.393000	0.30537	7.907000	0.87430	2.683000	0.91414	0.655000	0.94253	ACA		0.443	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		40	49	0	0	0	1	0	40	49				
NAA16	79612	broad.mit.edu	37	13	41947883	41947883	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:41947883C>T	ENST00000379406.3	+	18	2590	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	756					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTTTCTGAAACGTAACGCTAC	0.363																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(2266-2268)Cgt>Tgt		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							115.0	121.0	119.0					13																	41947883		2203	4300	6503	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41947883C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2266C>T	13.37:g.41947883C>T	ENSP00000368716:p.Arg756Cys					NAA16_ENST00000497143.1_3'UTR	p.R756C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			18	2590	+			756					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.2266C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361861	0.24684	.	.	ENSG00000172766	ENST00000379406	T	0.46451	0.87	5.76	2.98	0.34508	.	0.372994	0.27941	N	0.017225	T	0.26159	0.0638	N	0.24115	0.695	0.09310	N	0.99999	P	0.52316	0.952	B	0.40741	0.339	T	0.09796	-1.0658	10	0.54805	T	0.06	-0.2123	7.7421	0.28848	0.1314:0.7243:0.0:0.1443	.	756	Q6N069	NAA16_HUMAN	C	756	ENSP00000368716:R756C	ENSP00000368716:R756C	R	+	1	0	NAA16	40845883	0.001000	0.12720	0.000000	0.03702	0.337000	0.28794	0.313000	0.19415	0.299000	0.22661	0.655000	0.94253	CGT		0.363	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		34	56	0	0	0	1	0	34	56				
USP15	9958	broad.mit.edu	37	12	62749197	62749197	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62749197C>T	ENST00000280377.5	+	8	914	c.856C>T	c.(856-858)Cca>Tca	p.P286S	USP15_ENST00000393654.3_Missense_Mutation_p.P261S|USP15_ENST00000353364.3_Missense_Mutation_p.P257S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	286					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAATGAACAGCCAGGCCTCTG	0.368																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(856-858)Cca>Tca		ubiquitin specific peptidase 15							96.0	91.0	93.0					12																	62749197		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749197C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.856C>T	12.37:g.62749197C>T	ENSP00000280377:p.Pro286Ser					USP15_ENST00000353364.3_Missense_Mutation_p.P257S|USP15_ENST00000393654.3_Missense_Mutation_p.P261S	p.P286S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	914	+			286					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.856C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463598	0.63513	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.31769	4.05;4.05;1.48	5.6	5.6	0.85130	.	0.062189	0.64402	D	0.000003	T	0.35885	0.0947	M	0.66939	2.045	0.58432	D	0.999996	P;P	0.36683	0.565;0.56	B;B	0.34242	0.178;0.16	T	0.11991	-1.0565	9	.	.	.	-7.5939	19.6137	0.95619	0.0:1.0:0.0:0.0	.	286;257	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	257;286;261	ENSP00000258123:P257S;ENSP00000280377:P286S;ENSP00000377264:P261S	.	P	+	1	0	USP15	61035464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.288000	0.51739	2.650000	0.89964	0.557000	0.71058	CCA		0.368	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		8	34	0	0	0	1	0	8	34				
IL31RA	133396	broad.mit.edu	37	5	55204233	55204233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:55204233G>T	ENST00000447346.2	+	11	1560	c.1495G>T	c.(1495-1497)Gga>Tga	p.G499*	IL31RA_ENST00000396834.1_Nonsense_Mutation_p.G480*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.G357*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.G499*|IL31RA_ENST00000396836.2_Nonsense_Mutation_p.G499*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.G480*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.G357*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	467	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGTGGAAAAGGATTCTGTAA	0.478																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1438-1440)Gga>Tga		interleukin 31 receptor A							129.0	110.0	116.0					5																	55204233		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204233G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1495G>T	5.37:g.55204233G>T	ENSP00000415900:p.Gly499*					IL31RA_ENST00000396836.2_Nonsense_Mutation_p.G499*|IL31RA_ENST00000354961.4_Nonsense_Mutation_p.G480*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.G499*|IL31RA_ENST00000297015.3_Nonsense_Mutation_p.G357*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.G357*|IL31RA_ENST00000447346.2_Nonsense_Mutation_p.G499*	p.G480*	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			13	1934	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	467			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.1438G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	36	5.864452	0.97043	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	.	.	.	6.08	4.29	0.51040	.	0.386133	0.28828	N	0.014005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-26.2949	10.9008	0.47051	0.1496:0.0:0.8504:0.0	.	.	.	.	X	499;480;499;499;357;357;480	.	ENSP00000297015:G357X	G	+	1	0	IL31RA	55239990	1.000000	0.71417	0.966000	0.40874	0.881000	0.50899	2.307000	0.43682	0.884000	0.36064	0.655000	0.94253	GGA		0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		18	29	1	0	2.94398e-08	1	3.10271e-08	18	29				
FABP6	2172	broad.mit.edu	37	5	159665625	159665625	+	Missense_Mutation	SNP	G	G	A	rs369110932		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159665625G>A	ENST00000402432.3	+	4	474	c.346G>A	c.(346-348)Gga>Aga	p.G116R	FABP6_ENST00000393980.4_Missense_Mutation_p.G165R|FABP6_ENST00000393982.1_Missense_Mutation_p.G165R	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	116					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACCATCGGAGGCGTGAC	0.587																																					Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(493-495)Gga>Aga		fatty acid binding protein 6, ileal		G	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	63.0	65.0	65.0		493,493,346	2.6	0.0	5		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FABP6	NM_001040442.1,NM_001130958.1,NM_001445.2	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	165/178,165/178,116/129	159665625	1,13005	2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159665625G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.346G>A	5.37:g.159665625G>A	ENSP00000385433:p.Gly116Arg					FABP6_ENST00000393982.1_Missense_Mutation_p.G165R|FABP6_ENST00000402432.3_Missense_Mutation_p.G116R	p.G165R	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	639	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	116					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.493G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145606	0.21288	0.0	1.16E-4	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.26067	1.76;1.76;1.76	5.54	2.64	0.31445	Calycin-like (1);Cytosolic fatty-acid binding (1);Calycin (1);	0.551923	0.19438	N	0.114258	T	0.25827	0.0629	M	0.64404	1.975	0.09310	N	1	B;P	0.35481	0.262;0.504	B;B	0.36378	0.086;0.223	T	0.14727	-1.0462	10	0.72032	D	0.01	-3.1537	7.7703	0.29004	0.2684:0.0:0.7316:0.0	.	116;165	P51161;P51161-2	FABP6_HUMAN;.	R	165;165;116	ENSP00000377549:G165R;ENSP00000377551:G165R;ENSP00000385433:G116R	ENSP00000377549:G165R	G	+	1	0	FABP6	159598203	0.000000	0.05858	0.001000	0.08648	0.287000	0.27160	0.538000	0.23160	0.231000	0.21079	0.462000	0.41574	GGA		0.587	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		16	42	0	0	0	1	0	16	42				
FAM24A	118670	broad.mit.edu	37	10	124671241	124671241	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124671241T>C	ENST00000368894.1	+	2	212	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	31						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AAGTGTTGTGTTCTGTCTTTA	0.468																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(91-93)Ttc>Ctc		family with sequence similarity 24, member A							454.0	415.0	428.0					10																	124671241		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671241T>C		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.91T>C	10.37:g.124671241T>C	ENSP00000357889:p.Phe31Leu						p.F31L	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	212	+		all_neural(114;0.169)|Glioma(114;0.222)	31						Missense_Mutation	SNP	ENST00000368894.1	37	c.91T>C	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	T	4.488	0.090479	0.08632	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.61	-6.63	0.01807	.	1.814210	0.03505	N	0.218624	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	9	0.02654	T	1	.	2.2326	0.04000	0.1986:0.4347:0.0983:0.2683	.	31	A6NFZ4	FA24A_HUMAN	L	31	.	ENSP00000357889:F31L	F	+	1	0	FAM24A	124661231	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.356000	0.00499	-1.266000	0.02446	-0.381000	0.06696	TTC		0.468	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		9	228	0	0	0	1	0	9	228				
RGS3	5998	broad.mit.edu	37	9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	rs144334750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:116358026C>T	ENST00000374140.2	+	25	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1131	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3391-3393)gCg>gTg		regulator of G-protein signaling 3		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	180.0	144.0	156.0		1355,2549,302,3392,731	5.5	0.5	9	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4,NM_144489.2	64,64,64,64,64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	452/520,850/918,101/169,1131/1199,244/312	116358026	3,13003	2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116358026C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3392C>T	9.37:g.116358026C>T	ENSP00000363255:p.Ala1131Val					RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V	p.A1131V	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			25	3601	+			1131			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3392C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103554	0.76983	4.54E-4	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34;4.34;4.34	5.46	5.46	0.80206	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	M	0.62266	1.93	0.80722	D	1	D;P;D;D;D;D	0.89917	0.993;0.899;0.996;1.0;1.0;0.997	P;B;P;D;D;P	0.72625	0.488;0.245;0.636;0.966;0.978;0.57	T	0.00804	-1.1559	10	0.39692	T	0.17	.	18.3694	0.90402	0.0:1.0:0.0:0.0	.	524;244;1027;850;1021;1131	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	V	1131;1131;850;524;299;452;101;452;244	ENSP00000363255:A1131V;ENSP00000259406:A1131V;ENSP00000340284:A850V;ENSP00000378141:A524V;ENSP00000420356:A452V;ENSP00000343359:A101V;ENSP00000363249:A452V;ENSP00000436168:A244V	ENSP00000343359:A101V	A	+	2	0	RGS3	115397847	1.000000	0.71417	0.507000	0.27676	0.603000	0.37013	5.778000	0.68940	2.564000	0.86499	0.456000	0.33151	GCG		0.567	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		15	24	0	0	0	1	0	15	24				
PYDC1	260434	broad.mit.edu	37	16	31228335	31228335	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31228335G>A	ENST00000302964.3	-	1	345	c.15C>T	c.(13-15)cgC>cgT	p.R5R	TRIM72_ENST00000322122.3_Intron|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	5	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGATGGCCTCGCGCTTCGTTC	0.652																																						ENST00000302964.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(13-15)cgC>cgT		PYD (pyrin domain) containing 1							49.0	42.0	44.0					16																	31228335		2197	4300	6497	SO:0001819	synonymous_variant	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228335G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.15C>T	16.37:g.31228335G>A						TRIM72_ENST00000322122.3_Intron	p.R5R	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN			1	345	-			5			DAPIN.		B2R8L4|Q8NFP8	Silent	SNP	ENST00000302964.3	37	c.15C>T	CCDS10710.1																																																																																				0.652	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		6	10	0	0	0	1	0	6	10				
NKTR	4820	broad.mit.edu	37	3	42680699	42680699	+	Missense_Mutation	SNP	C	C	T	rs571337393		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:42680699C>T	ENST00000232978.8	+	13	3691	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1168					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATATGGCAACGGAACATCCT	0.473																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3502-3504)aCg>aTg		natural killer-tumor recognition sequence							95.0	86.0	89.0					3																	42680699		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680699C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3503C>T	3.37:g.42680699C>T	ENSP00000232978:p.Thr1168Met					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.T1168M	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3691	+			1168						Missense_Mutation	SNP	ENST00000232978.8	37	c.3503C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355882	0.24598	.	.	ENSG00000114857	ENST00000232978	D	0.81821	-1.54	5.05	-2.46	0.06461	.	1.642650	0.03210	N	0.176066	T	0.62696	0.2449	N	0.25647	0.755	0.09310	N	1	B;B	0.31893	0.345;0.0	B;B	0.19391	0.025;0.001	T	0.51379	-0.8713	10	0.44086	T	0.13	2.3764	0.8061	0.01084	0.1668:0.3197:0.2255:0.288	.	868;1168	Q6M1B8;P30414	.;NKTR_HUMAN	M	1168	ENSP00000232978:T1168M	ENSP00000232978:T1168M	T	+	2	0	NKTR	42655703	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.120000	0.03273	-0.128000	0.11641	0.557000	0.71058	ACG		0.473	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		14	14	0	0	0	1	0	14	14				
PHF7	51533	broad.mit.edu	37	3	52455688	52455688	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52455688C>T	ENST00000327906.3	+	8	1258	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PHF7_ENST00000347025.2_Missense_Mutation_p.H200Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	200						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ATCAGCAAAGCATTTCTTCAA	0.433																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(598-600)Cat>Tat		PHD finger protein 7							95.0	91.0	92.0					3																	52455688		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52455688C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.598C>T	3.37:g.52455688C>T	ENSP00000333024:p.His200Tyr					PHF7_ENST00000478707.1_Missense_Mutation_p.H200Y|PHF7_ENST00000347025.2_Missense_Mutation_p.H200Y	p.H200Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	8	1258	+			200					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.598C>T	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380764	0.42207	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	D;D;D	0.91631	-1.92;-1.92;-2.88	6.05	6.05	0.98169	Zinc finger, RING-type (2);	0.100972	0.64402	D	0.000001	D	0.92189	0.7523	L	0.35414	1.06	0.40125	D	0.976649	D;D	0.69078	0.997;0.993	D;D	0.75484	0.986;0.968	D	0.87106	0.2182	10	0.02654	T	1	0.1672	16.1087	0.81244	0.0:1.0:0.0:0.0	.	200;200	A8K856;Q9BWX1	.;PHF7_HUMAN	Y	200;200;200;108	ENSP00000419316:H200Y;ENSP00000333024:H200Y;ENSP00000246282:H200Y	ENSP00000333024:H200Y	H	+	1	0	PHF7	52430728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.395000	0.44459	2.880000	0.98712	0.655000	0.94253	CAT		0.433	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		9	40	0	0	0	1	0	9	40				
MON2	23041	broad.mit.edu	37	12	62887726	62887726	+	Missense_Mutation	SNP	G	G	T	rs367768584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:62887726G>T	ENST00000393632.2	+	3	598	c.207G>T	c.(205-207)caG>caT	p.Q69H	MON2_ENST00000280379.6_Missense_Mutation_p.Q69H|MON2_ENST00000552738.1_Missense_Mutation_p.Q69H|MON2_ENST00000549378.1_Intron|MON2_ENST00000552115.1_Missense_Mutation_p.Q69H|MON2_ENST00000393630.3_Missense_Mutation_p.Q69H|MON2_ENST00000546600.1_Missense_Mutation_p.Q69H|MON2_ENST00000393629.2_Missense_Mutation_p.Q69H	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	69					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGGTTGTACAGCCTTTTTTAA	0.343																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(205-207)caG>caT		MON2 homolog (S. cerevisiae)							92.0	79.0	84.0					12																	62887726		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62887726G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.207G>T	12.37:g.62887726G>T	ENSP00000377252:p.Gln69His					MON2_ENST00000280379.6_Missense_Mutation_p.Q69H|MON2_ENST00000552738.1_Missense_Mutation_p.Q69H|MON2_ENST00000552115.1_Missense_Mutation_p.Q69H|MON2_ENST00000393632.2_Missense_Mutation_p.Q69H|MON2_ENST00000549378.1_Intron|MON2_ENST00000546600.1_Missense_Mutation_p.Q69H|MON2_ENST00000393629.2_Missense_Mutation_p.Q69H	p.Q69H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	3	598	+			69					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.207G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336517	0.41398	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.67698	-0.18;-0.28;-0.28;-0.18;-0.18;-0.28;1.38	5.66	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	L	0.55743	1.74	0.58432	D	0.999999	D;P;P;P	0.71674	0.998;0.745;0.845;0.923	P;P;P;P	0.62382	0.901;0.458;0.458;0.671	T	0.69258	-0.5192	9	.	.	.	-7.106	10.9225	0.47174	0.2023:0.0:0.7977:0.0	.	69;69;69;69	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	H	69	ENSP00000377252:Q69H;ENSP00000377250:Q69H;ENSP00000280379:Q69H;ENSP00000447407:Q69H;ENSP00000449215:Q69H;ENSP00000377249:Q69H;ENSP00000446635:Q69H	.	Q	+	3	2	MON2	61173993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.935000	0.48963	0.351000	0.24027	0.591000	0.81541	CAG		0.343	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		12	12	1	0	1.08611e-07	1	1.14056e-07	12	12				
TRAV29DV5	28653	broad.mit.edu	37	14	22631699	22631699	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22631699G>T	ENST00000390458.3	+	0	402									T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene)																		AAAGTGCCAAGCACCTCTCTC	0.478											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390458.3																			0																				50.0	51.0	50.0					14																	22631699		1943	4146	6089			0							g.chr14:22631699G>T	AE000660		14q11.2	2012-02-07	2008-09-12		ENSG00000211810	ENSG00000211810		"""T cell receptors / TRA locus"""	12127	other	T cell receptor gene			"""T cell receptor alpha variable 29/delta variable 5"""			8188290	Standard	NG_001332		Approved	TRAV29/DV5			OTTHUMG00000170658		14.37:g.22631699G>T			OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757									0	402	+									RNA	SNP	ENST00000390458.3	37																																																																																						0.478	TRAV29DV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409906.1	NG_001332		12	12	1	0	2.32078e-09	1	2.46314e-09	12	12				
CALCOCO2	10241	broad.mit.edu	37	17	46925456	46925456	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46925456A>G	ENST00000258947.3	+	3	312	c.211A>G	c.(211-213)Acc>Gcc	p.T71A	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.T92A|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.T71A|CALCOCO2_ENST00000508679.1_5'UTR|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.T95A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	71					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TGAGTATTACACCTTCATGTG	0.423																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(211-213)Acc>Gcc		calcium binding and coiled-coil domain 2							114.0	98.0	104.0					17																	46925456		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925456A>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.211A>G	17.37:g.46925456A>G	ENSP00000258947:p.Thr71Ala					CALCOCO2_ENST00000509507.1_Missense_Mutation_p.T92A|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.T71A|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.T95A|CALCOCO2_ENST00000508679.1_5'UTR	p.T71A	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			3	312	+			71					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.211A>G	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681794	0.88542	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000505071;ENST00000502761	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	T	0.48537	0.1505	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.63046	0.992;0.989;0.989;0.989	D;D;D;D	0.70016	0.93;0.967;0.966;0.966	T	0.57831	-0.7743	10	0.72032	D	0.01	-8.7021	15.3333	0.74231	1.0:0.0:0.0:0.0	.	71;95;92;71	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	A	71;92;95;71;71;71	ENSP00000258947:T71A;ENSP00000424352:T92A;ENSP00000398523:T95A;ENSP00000406974:T71A;ENSP00000422697:T71A;ENSP00000424889:T71A	ENSP00000258947:T71A	T	+	1	0	CALCOCO2	44280455	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.134000	0.77268	2.107000	0.64212	0.482000	0.46254	ACC		0.423	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		13	25	0	0	0	1	0	13	25				
CTSF	8722	broad.mit.edu	37	11	66329000	66329000	+	IGR	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66329000G>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCAGCAGGAGCAGAACATTA	0.597																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							39.0	42.0	41.0					11																	66329000		2081	4221	6302	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66329000G>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329000G>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2164	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		6	9	1	0	0.0215528	1	0.0217053	6	9				
SLC36A1	206358	broad.mit.edu	37	5	150847345	150847345	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150847345G>A	ENST00000243389.3	+	7	805	c.582G>A	c.(580-582)tcG>tcA	p.S194S	SLC36A1_ENST00000429484.2_Silent_p.S194S|SLC36A1_ENST00000521925.1_Silent_p.S194S|SLC36A1_ENST00000520701.1_Silent_p.S194S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	194					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCATGGACTCGCGACTCTACA	0.532																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(580-582)tcG>tcA		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						288.0	252.0	264.0					5																	150847345		2203	4300	6503	SO:0001819	synonymous_variant	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150847345G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.582G>A	5.37:g.150847345G>A						SLC36A1_ENST00000429484.2_Silent_p.S194S|SLC36A1_ENST00000520701.1_Silent_p.S194S|SLC36A1_ENST00000521925.1_Silent_p.S194S	p.S194S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	805	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	194					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	c.582G>A	CCDS4316.1																																																																																				0.532	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		39	31	0	0	0	1	0	39	31				
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	rs200000493		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(286-288)Gcc>Acc		parvin, gamma							105.0	93.0	97.0					22																	44585032		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585032G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.286G>A	22.37:g.44585032G>A	ENSP00000391583:p.Ala96Thr					PARVG_ENST00000444313.2_Missense_Mutation_p.A96T|PARVG_ENST00000415224.1_Missense_Mutation_p.A96T	p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			6	710	+		Ovarian(80;0.024)|all_neural(38;0.0299)	96			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.286G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422888	0.11928	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94862	-3.54;-3.54;-3.54	4.86	2.71	0.32032	Calponin homology domain (4);	0.066647	0.64402	D	0.000012	D	0.87981	0.6315	N	0.26130	0.795	0.42608	D	0.993305	D	0.55172	0.97	P	0.47118	0.538	D	0.84913	0.0849	10	0.02654	T	1	-19.638	7.1608	0.25662	0.093:0.0:0.7309:0.1761	.	96	Q9HBI0	PARVG_HUMAN	T	96	ENSP00000391453:A96T;ENSP00000391583:A96T;ENSP00000416761:A96T	ENSP00000349378:A96T	A	+	1	0	PARVG	42916365	0.962000	0.33011	0.008000	0.14137	0.331000	0.28603	2.592000	0.46171	0.418000	0.25898	0.555000	0.69702	GCC		0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		20	32	0	0	0	1	0	20	32				
KIF2B	84643	broad.mit.edu	37	17	51901669	51901669	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:51901669C>T	ENST00000268919.4	+	1	1431	c.1275C>T	c.(1273-1275)agC>agT	p.S425S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	425	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATCCAGGAGCCATGCAGTGT	0.493																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1273-1275)agC>agT		kinesin family member 2B							88.0	68.0	75.0					17																	51901669		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901669C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1275C>T	17.37:g.51901669C>T							p.S425S	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1431	+			425			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1275C>T	CCDS32685.1																																																																																				0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		14	24	0	0	0	1	0	14	24				
ALG14	199857	broad.mit.edu	37	1	95530491	95530491	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:95530491A>G	ENST00000370205.5	-	2	265	c.219T>C	c.(217-219)acT>acC	p.T73T	ALG14_ENST00000495856.1_5'UTR|RP11-313A24.1_ENST00000451611.1_RNA	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	73					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TCATTTCATCAGTGTCAGCAA	0.388																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(217-219)acT>acC		ALG14, UDP-N-acetylglucosaminyltransferase subunit							126.0	122.0	123.0					1																	95530491		2203	4300	6503	SO:0001819	synonymous_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95530491A>G		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.219T>C	1.37:g.95530491A>G						RP11-313A24.1_ENST00000451611.1_RNA|ALG14_ENST00000495856.1_5'UTR	p.T73T	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	2	265	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	73					A8K030	Silent	SNP	ENST00000370205.5	37	c.219T>C	CCDS752.1																																																																																				0.388	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		7	19	0	0	0	1	0	7	19				
LRBA	987	broad.mit.edu	37	4	151682934	151682934	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151682934C>A	ENST00000357115.3	-	35	5889		c.e35+1		LRBA_ENST00000510413.1_Splice_Site|LRBA_ENST00000535741.1_Splice_Site|LRBA_ENST00000507224.1_Splice_Site	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					aaataaattaCCTTCCTTCAT	0.284																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e35+1		LPS-responsive vesicle trafficking, beach and anchor containing							33.0	38.0	36.0					4																	151682934		2198	4272	6470	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151682934C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5645+1G>T	4.37:g.151682934C>A						LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000510413.1_Splice_Site				P50851	LRBA_HUMAN			35	6119	-	all_hematologic(180;0.151)							Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	ENST00000357115.3	37		CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372535	0.42003	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000509835;ENST00000507224	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5067	0.90900	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRBA	151902384	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.128000	0.77217	2.352000	0.79861	0.655000	0.94253	.		0.284	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Intron	36	52	1	0	6.05902e-23	1	6.74593e-23	36	52				
DCST2	127579	broad.mit.edu	37	1	154991112	154991112	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154991112C>T	ENST00000368424.3	-	15	2288	c.2230G>A	c.(2230-2232)Gcc>Acc	p.A744T		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	744	Pro-rich.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTTAGTGGCGGAGGATGTC	0.587																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(2230-2232)Gcc>Acc		DC-STAMP domain containing 2							75.0	91.0	86.0					1																	154991112		2038	4212	6250	SO:0001583	missense	127579					integral to membrane		g.chr1:154991112C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2230G>A	1.37:g.154991112C>T	ENSP00000357409:p.Ala744Thr						p.A744T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		15	2288	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		744			Pro-rich.		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.2230G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	9.437	1.087002	0.20390	.	.	ENSG00000163354	ENST00000368424	T	0.23950	1.88	2.1	1.12	0.20585	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P	0.37083	0.581	B	0.15052	0.012	T	0.32955	-0.9887	9	0.59425	D	0.04	.	5.0304	0.14407	0.0:0.8132:0.0:0.1868	.	744	Q5T1A1	DCST2_HUMAN	T	744	ENSP00000357409:A744T	ENSP00000357409:A744T	A	-	1	0	DCST2	153257736	0.000000	0.05858	0.023000	0.16930	0.126000	0.20510	-0.620000	0.05565	0.393000	0.25203	0.462000	0.41574	GCC		0.587	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		15	26	0	0	0	1	0	15	26				
TSC2	7249	broad.mit.edu	37	16	2096314	2096314	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2096314G>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.R65C|TSC2_ENST00000439673.2_5'Flank|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000382538.6_5'Flank|TSC2_ENST00000353929.4_5'Flank|TSC2_ENST00000401874.2_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000568454.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TAGGCCACACGCAGTCTCTGT	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219066.1			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(193-195)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							90.0	90.0	90.0					16																	2096314		2198	4300	6498	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2096314G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096314G>A	Exception_encountered						p.R65C	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			2	211	-			65					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.193C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104818	0.20632	.	.	ENSG00000065057	ENST00000219066	T	0.15017	2.46	4.83	-3.91	0.04168	.	1.371960	0.04747	N	0.423898	T	0.05502	0.0145	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.31447	-0.9943	10	0.52906	T	0.07	2.3349	1.731	0.02931	0.2845:0.1055:0.3926:0.2175	.	65;65	E5KTI5;P78549	.;NTHL1_HUMAN	C	65	ENSP00000219066:R65C	ENSP00000219066:R65C	R	-	1	0	NTHL1	2036315	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.580000	0.05827	-0.571000	0.06014	-1.149000	0.01842	CGT		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		27	50	0	0	0	1	0	27	50				
ZMYND8	23613	broad.mit.edu	37	20	45867671	45867671	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45867671C>T	ENST00000311275.7	-	15	2689	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P	ZMYND8_ENST00000536340.1_Silent_p.P839P|ZMYND8_ENST00000355972.4_Silent_p.P812P|ZMYND8_ENST00000471951.2_Silent_p.P832P|ZMYND8_ENST00000352431.2_Silent_p.P832P|ZMYND8_ENST00000540497.1_Silent_p.P760P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Silent_p.P812P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Silent_p.P807P|ZMYND8_ENST00000360911.3_Silent_p.P807P|ZMYND8_ENST00000446994.2_Silent_p.P749P|ZMYND8_ENST00000396281.4_Silent_p.P812P|ZMYND8_ENST00000461685.1_Silent_p.P832P	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	812					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGCACGGCCGGGGCAGTCT	0.622																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2434-2436)ccG>ccA		zinc finger, MYND-type containing 8							61.0	73.0	69.0					20																	45867671		2193	4287	6480	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45867671C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2436G>A	20.37:g.45867671C>T						ZMYND8_ENST00000352431.2_Silent_p.P832P|ZMYND8_ENST00000540497.1_Silent_p.P760P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Silent_p.P812P|ZMYND8_ENST00000262975.4_Silent_p.P812P|ZMYND8_ENST00000536340.1_Silent_p.P839P|ZMYND8_ENST00000471951.2_Silent_p.P832P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Silent_p.P812P|ZMYND8_ENST00000372023.3_Silent_p.P807P|ZMYND8_ENST00000360911.3_Silent_p.P807P|ZMYND8_ENST00000461685.1_Silent_p.P832P|ZMYND8_ENST00000446994.2_Silent_p.P749P	p.P812P			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2689	-			812					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.2436G>A		.	.	.	.	.	.	.	.	.	.	C	7.138	0.581189	0.13686	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.71	-0.179	0.13299	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37709	-0.9694	4	.	.	.	-3.2474	5.2	0.15258	0.2081:0.3343:0.0:0.4576	.	.	.	.	S	740	.	.	G	-	1	0	ZMYND8	45301078	0.249000	0.23941	0.998000	0.56505	0.651000	0.38670	-0.473000	0.06615	0.072000	0.16694	0.591000	0.81541	GGC		0.622	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		33	54	0	0	0	1	0	33	54				
YARS2	51067	broad.mit.edu	37	12	32903660	32903660	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32903660C>T	ENST00000324868.8	-	3	1123	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	366					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TACCTTTTAGCAGAATCCAAT	0.403																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1096-1098)Gct>Act		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						132.0	115.0	121.0					12																	32903660		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903660C>T	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1096G>A	12.37:g.32903660C>T	ENSP00000320658:p.Ala366Thr						p.A366T	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1123	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		366					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1096G>A	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182219	0.94885	.	.	ENSG00000139131	ENST00000324868	T	0.55760	0.5	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.90082	3.085	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.82559	-0.0397	10	0.87932	D	0	-18.7732	16.9729	0.86305	0.0:1.0:0.0:0.0	.	366	Q9Y2Z4	SYYM_HUMAN	T	366	ENSP00000320658:A366T	ENSP00000320658:A366T	A	-	1	0	YARS2	32794927	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.234000	0.78134	2.515000	0.84797	0.650000	0.86243	GCT		0.403	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		13	36	0	0	0	1	0	13	36				
NARF	26502	broad.mit.edu	37	17	80417915	80417915	+	Silent	SNP	C	C	T	rs368518853		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80417915C>T	ENST00000309794.11	+	2	273	c.75C>T	c.(73-75)gcC>gcT	p.A25A	NARF_ENST00000457415.3_Silent_p.A25A|RP13-20L14.6_ENST00000579095.1_RNA|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Silent_p.A25A|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	25						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ATGTGTCAGCCGATGCACCGA	0.408																																						ENST00000309794.10																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(73-75)gcC>gcT		nuclear prelamin A recognition factor		C	,,,	1,4405	2.1+/-5.4	0,1,2202	108.0	107.0	107.0		,75,75,75	-6.6	0.0	17		107	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	NARF	NM_001038618.2,NM_001083608.1,NM_012336.3,NM_031968.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,25/409,25/457,25/503	80417915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26502					lamin filament	lamin binding	g.chr17:80417915C>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.75C>T	17.37:g.80417915C>T						NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_5'UTR|NARF_ENST00000457415.3_Silent_p.A25A|NARF_ENST00000345415.7_Silent_p.A25A	p.A25A	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	273	+	Breast(20;0.00106)|all_neural(118;0.0804)		25					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	c.75C>T	CCDS32777.1																																																																																				0.408	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		19	27	0	0	0	1	0	19	27				
CARD11	84433	broad.mit.edu	37	7	2962899	2962899	+	Missense_Mutation	SNP	G	G	A	rs3735134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2962899G>A	ENST00000396946.4	-	16	2412	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	670	PDZ.		T -> M (in dbSNP:rs3735134).		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCATTCAGCGTCGTGTGCTG	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2008-2010)aCg>aTg		caspase recruitment domain family, member 11		G	MET/THR	0,4406		0,0,2203	43.0	46.0	45.0		2009	4.0	0.0	7	dbSNP_107	45	1,8595		0,1,4297	no	missense	CARD11	NM_032415.4	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	670/1155	2962899	1,13001	2203	4298	6501	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962899G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2009C>T	7.37:g.2962899G>A	ENSP00000380150:p.Thr670Met						p.T670M	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	16	2412	-		Ovarian(82;0.0115)	670		T -> M (in dbSNP:rs3735134).	PDZ.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2009C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007869	0.35415	0.0	1.16E-4	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.56611	0.45;0.45	4.89	4.01	0.46588	PDZ/DHR/GLGF (1);	0.196824	0.44483	N	0.000450	T	0.24736	0.0600	N	0.08118	0	0.18873	N	0.999986	P	0.36753	0.568	B	0.20955	0.032	T	0.09552	-1.0669	10	0.38643	T	0.18	-16.4286	9.0534	0.36389	0.1708:0.0:0.8292:0.0	rs3735134	670	Q9BXL7	CAR11_HUMAN	M	670;141	ENSP00000380150:T670M;ENSP00000347695:T141M	ENSP00000347695:T141M	T	-	2	0	CARD11	2929425	0.840000	0.29493	0.008000	0.14137	0.004000	0.04260	3.035000	0.49759	1.061000	0.40601	0.555000	0.69702	ACG		0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	30	0	0	0	1	0	12	30				
KIF20A	10112	broad.mit.edu	37	5	137520619	137520619	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137520619C>T	ENST00000394894.3	+	14	2033	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	KIF20A_ENST00000508792.1_Missense_Mutation_p.R585W	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	603					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATGCAACAGCGGGAACAGTG	0.493																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1807-1809)Cgg>Tgg		kinesin family member 20A							127.0	123.0	124.0					5																	137520619		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520619C>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1807C>T	5.37:g.137520619C>T	ENSP00000378356:p.Arg603Trp					KIF20A_ENST00000508792.1_Missense_Mutation_p.R585W	p.R603W	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	2033	+			603					B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1807C>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236408	0.58886	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.72051	-0.6;-0.62	5.41	4.54	0.55810	.	0.000000	0.38217	N	0.001770	T	0.76018	0.3929	L	0.50333	1.59	0.30883	N	0.731206	D;D	0.76494	0.997;0.999	P;P	0.57468	0.821;0.798	T	0.78270	-0.2269	10	0.62326	D	0.03	-18.4055	13.7355	0.62815	0.3311:0.6688:0.0:0.0	.	585;603	B4DL79;O95235	.;KI20A_HUMAN	W	603;585	ENSP00000378356:R603W;ENSP00000420880:R585W	ENSP00000378356:R603W	R	+	1	2	KIF20A	137548518	0.991000	0.36638	0.943000	0.38184	0.994000	0.84299	2.502000	0.45398	1.498000	0.48600	0.557000	0.71058	CGG		0.493	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	41	0	0	0	1	0	33	41				
TSSK2	23617	broad.mit.edu	37	22	19119445	19119445	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19119445C>T	ENST00000399635.2	+	1	1125	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TTCTGCGGGTCGGCAGCATAT	0.582																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(532-534)tCg>tTg		testis-specific serine kinase 2							100.0	96.0	98.0					22																	19119445		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119445C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.533C>T	22.37:g.19119445C>T	ENSP00000382544:p.Ser178Leu					DGCR14_ENST00000252137.6_3'UTR	p.S178L	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1125	+	Colorectal(54;0.0993)		178			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.533C>T	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875501	0.72180	.	.	ENSG00000206203	ENST00000399635	D	0.84944	-1.92	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000402	D	0.93491	0.7923	M	0.87097	2.86	0.45272	D	0.998271	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	10	0.87932	D	0	.	18.1358	0.89618	0.0:1.0:0.0:0.0	.	178	Q96PF2	TSSK2_HUMAN	L	178	ENSP00000382544:S178L	ENSP00000382544:S178L	S	+	2	0	TSSK2	17499445	1.000000	0.71417	0.952000	0.39060	0.360000	0.29518	5.733000	0.68571	2.575000	0.86900	0.655000	0.94253	TCG		0.582	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			24	60	0	0	0	1	0	24	60				
NPNT	255743	broad.mit.edu	37	4	106859520	106859520	+	Missense_Mutation	SNP	C	C	T	rs145340246		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106859520C>T	ENST00000379987.2	+	5	664	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	NPNT_ENST00000514622.1_Missense_Mutation_p.R150W|NPNT_ENST00000305572.8_Missense_Mutation_p.R150W|NPNT_ENST00000506666.1_Missense_Mutation_p.R180W|NPNT_ENST00000453617.2_Missense_Mutation_p.R167W|NPNT_ENST00000427316.2_Missense_Mutation_p.R180W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	150	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|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)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGGACAAATACGGTGCCAGTG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17027	0.0		0.0	False		,,,				2504	0.0					ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(448-450)Cgg>Tgg		nephronectin		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	20,4386	27.2+/-55.0	0,20,2183	92.0	82.0	86.0		448,499,538,448,538	4.4	0.3	4	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NPNT	NM_001033047.2,NM_001184690.1,NM_001184691.1,NM_001184692.1,NM_001184693.1	101,101,101,101,101	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	150/566,167/583,180/596,150/537,180/567	106859520	20,12986	2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106859520C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.448C>T	4.37:g.106859520C>T	ENSP00000369323:p.Arg150Trp					NPNT_ENST00000506666.1_Missense_Mutation_p.R180W|NPNT_ENST00000453617.2_Missense_Mutation_p.R167W|NPNT_ENST00000514622.1_Missense_Mutation_p.R150W|NPNT_ENST00000427316.2_Missense_Mutation_p.R180W|NPNT_ENST00000305572.8_Missense_Mutation_p.R150W	p.R150W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	5	664	+		Hepatocellular(203;0.217)	150			EGF-like 3.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.448C>T	CCDS34046.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	16.39|16.39	3.111057|3.111057	0.56398|0.56398	0.004539|0.004539	0.0|0.0	ENSG00000168743|ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;T;D;D;T;T|.	0.87809|.	-2.3;-2.3;-2.3;-1.1;-2.3;-2.3;-1.11;-0.27|.	5.22|5.22	4.37|4.37	0.52481|0.52481	Epidermal growth factor-like (1);|.	0.052801|.	0.85682|.	D|.	0.000000|.	D|D	0.82572|0.82572	0.5066|0.5066	M|M	0.89095|0.89095	3.005|3.005	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.78314|.	0.989;0.973;0.982;0.973;0.982;0.984;0.991|.	D|D	0.85935|0.85935	0.1454|0.1454	10|5	0.72032|.	D|.	0.01|.	.|.	15.5699|15.5699	0.76326|0.76326	0.1391:0.8609:0.0:0.0|0.1391:0.8609:0.0:0.0	.|.	150;180;180;167;197;150;150|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	W|M	46;150;167;180;150;150;180;197|126	ENSP00000426951:R46W;ENSP00000369323:R150W;ENSP00000402884:R167W;ENSP00000389252:R180W;ENSP00000422044:R150W;ENSP00000302557:R150W;ENSP00000422474:R180W;ENSP00000426146:R197W|.	ENSP00000302557:R150W|.	R|T	+|+	1|2	2|0	NPNT|NPNT	107078969|107078969	1.000000|1.000000	0.71417|0.71417	0.260000|0.260000	0.24451|0.24451	0.132000|0.132000	0.20833|0.20833	4.486000|4.486000	0.60286|0.60286	1.319000|1.319000	0.45190|0.45190	-0.152000|-0.152000	0.13540|0.13540	CGG|ACG		0.532	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		18	37	0	0	0	1	0	18	37				
NOXRED1	122945	broad.mit.edu	37	14	77861007	77861007	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77861007C>A	ENST00000380835.2	-	6	1213	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	349					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAATGACTGGCTGTTCTTTGG	0.433																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1045-1047)caG>caT		NADP-dependent oxidoreductase domain containing 1							153.0	137.0	142.0					14																	77861007		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77861007C>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.1047G>T	14.37:g.77861007C>A	ENSP00000370215:p.Gln349His						p.Q349H	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			6	1213	-			349					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.1047G>T	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454320	0.26161	.	.	ENSG00000165555	ENST00000380835	T	0.55930	0.49	4.84	1.85	0.25348	.	0.846081	0.10444	N	0.673876	T	0.41419	0.1158	L	0.51422	1.61	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.36841	-0.9731	10	0.42905	T	0.14	-0.2854	2.3018	0.04164	0.1562:0.5096:0.1523:0.1819	.	349	Q6NXP6	NXRD1_HUMAN	H	349	ENSP00000370215:Q349H	ENSP00000370215:Q349H	Q	-	3	2	C14orf148	76930760	0.000000	0.05858	0.028000	0.17463	0.457000	0.32468	-0.073000	0.11468	0.519000	0.28406	0.563000	0.77884	CAG		0.433	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		18	30	1	0	1.37657e-19	1	1.52335e-19	18	30				
RNF149	284996	broad.mit.edu	37	2	101911428	101911428	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101911428G>A	ENST00000295317.3	-	2	783	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	226					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TATAGGAAACGCTGTATATAG	0.373																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(676-678)Cgt>Tgt		ring finger protein 149							66.0	68.0	68.0					2																	101911428		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101911428G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.676C>T	2.37:g.101911428G>A	ENSP00000295317:p.Arg226Cys						p.R226C	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			2	783	-			226					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.676C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045576	0.75846	.	.	ENSG00000163162	ENST00000295317	T	0.13196	2.61	5.54	4.66	0.58398	.	0.000000	0.64402	D	0.000006	T	0.38852	0.1056	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.38001	-0.9681	10	0.87932	D	0	.	14.1587	0.65432	0.0714:0.0:0.9286:0.0	.	226	Q8NC42	RN149_HUMAN	C	226	ENSP00000295317:R226C	ENSP00000295317:R226C	R	-	1	0	RNF149	101277860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.731000	0.62022	1.345000	0.45676	0.591000	0.81541	CGT		0.373	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		12	46	0	0	0	1	0	12	46				
SUPT3H	8464	broad.mit.edu	37	6	44921078	44921078	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44921078G>A	ENST00000371459.1	-	9	935	c.770C>T	c.(769-771)gCa>gTa	p.A257V	SUPT3H_ENST00000371461.2_Missense_Mutation_p.A268V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A40V|SUPT3H_ENST00000371460.1_Missense_Mutation_p.A268V|SUPT3H_ENST00000306867.5_Missense_Mutation_p.A257V	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	339				QTR -> HNS (in Ref. 1; AAC70014). {ECO:0000305}.	chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AATGAAGGTTGCAGAAATGGC	0.403																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(802-804)gCa>gTa		suppressor of Ty 3 homolog (S. cerevisiae)							104.0	98.0	100.0					6																	44921078		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44921078G>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.770C>T	6.37:g.44921078G>A	ENSP00000360514:p.Ala257Val					SUPT3H_ENST00000306867.5_Missense_Mutation_p.A257V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A40V|SUPT3H_ENST00000371461.2_Missense_Mutation_p.A268V|SUPT3H_ENST00000371459.1_Missense_Mutation_p.A257V	p.A268V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			11	1120	-			339					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.803C>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565316	0.86439	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.47177	0.85;0.87;0.85;0.87;0.85	6.04	6.04	0.98038	.	0.202880	0.52532	D	0.000080	T	0.47358	0.1441	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.57257	0.974;0.979	P;B	0.50659	0.647;0.444	T	0.23154	-1.0196	10	0.26408	T	0.33	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	268;339	O75486-3;O75486	.;SUPT3_HUMAN	V	268;257;40;257;268	ENSP00000360515:A268V;ENSP00000360514:A257V;ENSP00000360513:A40V;ENSP00000306718:A257V;ENSP00000360516:A268V	ENSP00000306718:A257V	A	-	2	0	SUPT3H	45029056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.441000	0.90313	2.873000	0.98535	0.563000	0.77884	GCA		0.403	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		6	12	0	0	0	1	0	6	12				
ACOX2	8309	broad.mit.edu	37	3	58520136	58520136	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58520136G>A	ENST00000302819.5	-	3	565	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	ACOX2_ENST00000459701.2_Missense_Mutation_p.R92W	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	92					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCCAGGCGCCGAGCTATCAAC	0.527																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(274-276)Cgg>Tgg		acyl-CoA oxidase 2, branched chain							109.0	104.0	106.0					3																	58520136		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520136G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.274C>T	3.37:g.58520136G>A	ENSP00000307697:p.Arg92Trp					ACOX2_ENST00000459701.2_Missense_Mutation_p.R92W	p.R92W	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	3	565	-			92					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.274C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752620	0.31046	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.51817	0.69;0.69;0.69	5.38	0.748	0.18376	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.945300	0.08898	N	0.877647	T	0.23572	0.0570	N	0.11560	0.145	0.09310	N	1	B	0.23316	0.083	B	0.16289	0.015	T	0.17992	-1.0351	10	0.40728	T	0.16	-3.0464	2.3567	0.04297	0.1602:0.1008:0.3752:0.3638	.	92	Q99424	ACOX2_HUMAN	W	92	ENSP00000418562:R92W;ENSP00000307697:R92W;ENSP00000419927:R92W	ENSP00000307697:R92W	R	-	1	2	ACOX2	58495176	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.284000	0.18864	0.307000	0.22880	0.655000	0.94253	CGG		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			4	76	0	0	0	1	0	4	76				
CRAMP1L	57585	broad.mit.edu	37	16	1706079	1706079	+	Missense_Mutation	SNP	G	G	A	rs571857474		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1706079G>A	ENST00000397412.3	+	10	1420	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.V438M|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.V441M|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	441						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGACGCCCACGTGCTGCCCCC	0.711													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14952	0.0		0.0	False		,,,				2504	0.0					ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1321-1323)Gtg>Atg		Crm, cramped-like (Drosophila)							10.0	14.0	13.0					16																	1706079		1969	4121	6090	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1706079G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1321G>A	16.37:g.1706079G>A	ENSP00000380559:p.Val441Met					CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.V438M|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.V441M	p.V441M			Q96RY5	CRML_HUMAN			10	1420	+			441					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1321G>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	4.633	0.117672	0.08881	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.02	-10.0	0.00425	.	1.258540	0.05485	N	0.555545	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.27500	0.08	T	0.39461	-0.9613	9	0.59425	D	0.04	-0.0329	0.4283	0.00467	0.2126:0.2129:0.1595:0.415	.	441	Q96RY5	CRML_HUMAN	M	441;441;438	.	ENSP00000293925:V441M	V	+	1	0	CRAMP1L	1646080	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.013000	0.03645	-2.195000	0.00752	-0.274000	0.10170	GTG		0.711	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	6	0	0	0	1	0	4	6				
CNTROB	116840	broad.mit.edu	37	17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7842903C>T	ENST00000563694.1	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000380262.3_Missense_Mutation_p.R334W	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1000-1002)Cgg>Tgg		centrobin, centrosomal BRCA2 interacting protein							82.0	77.0	79.0					17																	7842903		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7842903C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1000C>T	17.37:g.7842903C>T	ENSP00000456335:p.Arg334Trp					CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W	p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			8	1925	+		Prostate(122;0.173)	334					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1000C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277488	0.59758	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.65732	-0.17;0.72	5.26	5.26	0.73747	.	0.141093	0.32952	N	0.005452	T	0.61800	0.2376	L	0.29908	0.895	0.39509	D	0.968331	D;B;B;D	0.76494	0.999;0.124;0.124;0.998	P;B;B;P	0.56916	0.809;0.027;0.027;0.809	T	0.65882	-0.6060	10	0.62326	D	0.03	-11.6849	9.9811	0.41813	0.0:0.9069:0.0:0.0931	.	334;334;334;334	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	W	334	ENSP00000369614:R334W;ENSP00000369605:R334W	ENSP00000369605:R334W	R	+	1	2	CNTROB	7783628	0.992000	0.36948	0.998000	0.56505	0.192000	0.23643	2.031000	0.41117	2.475000	0.83589	0.313000	0.20887	CGG		0.592	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		30	54	0	0	0	1	0	30	54				
CACNG1	786	broad.mit.edu	37	17	65052280	65052280	+	Missense_Mutation	SNP	G	G	A	rs372713806		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65052280G>A	ENST00000226021.3	+	4	633	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	188					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCCTGTGCCGCCTTCATCCT	0.607																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(562-564)Gcc>Acc		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						207.0	150.0	170.0					17																	65052280		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65052280G>A	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.562G>A	17.37:g.65052280G>A	ENSP00000226021:p.Ala188Thr						p.A188T	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			4	633	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		188					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.562G>A	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438058	0.62955	.	.	ENSG00000108878	ENST00000226021	T	0.72615	-0.67	5.0	3.96	0.45880	.	0.073911	0.56097	D	0.000031	T	0.74824	0.3767	M	0.81239	2.535	0.48135	D	0.999597	D	0.53462	0.96	P	0.46110	0.504	T	0.81174	-0.1053	10	0.87932	D	0	.	14.0746	0.64882	0.0:0.0:0.7658:0.2342	.	188	Q06432	CCG1_HUMAN	T	188	ENSP00000226021:A188T	ENSP00000226021:A188T	A	+	1	0	CACNG1	62482742	1.000000	0.71417	0.253000	0.24343	0.160000	0.22226	3.442000	0.52900	2.482000	0.83794	0.462000	0.41574	GCC		0.607	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			14	25	0	0	0	1	0	14	25				
DYNC1H1	1778	broad.mit.edu	37	14	102494048	102494048	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102494048C>T	ENST00000360184.4	+	47	9305	c.9141C>T	c.(9139-9141)caC>caT	p.H3047H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3047	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGACTCGCACGAGGAGCTCT	0.572																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9139-9141)caC>caT		dynein, cytoplasmic 1, heavy chain 1							119.0	101.0	107.0					14																	102494048		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102494048C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9141C>T	14.37:g.102494048C>T							p.H3047H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			47	9305	+			3047			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.9141C>T	CCDS9966.1																																																																																				0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	46	0	0	0	1	0	4	46				
KLHL31	401265	broad.mit.edu	37	6	53519296	53519296	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:53519296G>A	ENST00000407079.1	-	1	774	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	KLHL31_ENST00000370905.3_Missense_Mutation_p.R259C			Q9H511	KLH31_HUMAN	kelch-like family member 31	259	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTACCAAAGCGAATATTGCTC	0.398																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(775-777)Cgc>Tgc		kelch-like family member 31							148.0	143.0	144.0					6																	53519296		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519296G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.775C>T	6.37:g.53519296G>A	ENSP00000384644:p.Arg259Cys					KLHL31_ENST00000407079.1_Missense_Mutation_p.R259C	p.R259C	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	915	-	Lung NSC(77;0.0158)		259			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.775C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273179	0.80580	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.81163	-1.46;-1.46	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92576	0.6070	10	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	259	Q9H511	KLH31_HUMAN	C	259	ENSP00000359942:R259C;ENSP00000384644:R259C	ENSP00000359942:R259C	R	-	1	0	KLHL31	53627255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.756000	0.94617	0.561000	0.74099	CGC		0.398	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		5	113	0	0	0	1	0	5	113				
TRIM3	10612	broad.mit.edu	37	11	6478687	6478687	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:6478687C>T	ENST00000525074.1	-	5	929	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TRIM3_ENST00000537602.1_Missense_Mutation_p.A179T|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.A179T|TRIM3_ENST00000359518.3_Missense_Mutation_p.A179T|TRIM3_ENST00000536344.1_Missense_Mutation_p.A60T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	179					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGCAATTGCTGCGGACAGC	0.597																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(535-537)Gca>Aca		tripartite motif containing 3							51.0	51.0	51.0					11																	6478687		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478687C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.535G>A	11.37:g.6478687C>T	ENSP00000433102:p.Ala179Thr					TRIM3_ENST00000537602.1_Missense_Mutation_p.A179T|TRIM3_ENST00000536344.1_Missense_Mutation_p.A60T|TRIM3_ENST00000359518.3_Missense_Mutation_p.A179T|TRIM3_ENST00000345851.3_Missense_Mutation_p.A179T|TRIM3_ENST00000529058.1_5'UTR	p.A179T	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	929	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	179					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.535G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481263	0.84747	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.84516	-0.65;-0.65;-0.74;-0.65;-1.86;0.98	5.15	5.15	0.70609	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	M	0.74258	2.255	0.80722	D	1	D;D;D	0.67145	0.981;0.996;0.967	P;D;P	0.65010	0.897;0.931;0.792	D	0.88290	0.2942	10	0.18710	T	0.47	-7.922	17.1976	0.86898	0.0:1.0:0.0:0.0	.	60;60;179	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	T	179;179;179;179;168;179;179;60;179	ENSP00000433102:A179T;ENSP00000340797:A179T;ENSP00000441091:A179T;ENSP00000352508:A179T;ENSP00000445460:A60T;ENSP00000433070:A179T	ENSP00000337094:A168T	A	-	1	0	TRIM3	6435263	1.000000	0.71417	0.989000	0.46669	0.694000	0.40290	6.865000	0.75500	2.402000	0.81655	0.462000	0.41574	GCA		0.597	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		12	28	0	0	0	1	0	12	28				
PSD4	23550	broad.mit.edu	37	2	113941078	113941078	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113941078G>A	ENST00000245796.6	+	2	1240	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	PSD4_ENST00000441564.3_Missense_Mutation_p.G349R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	349					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGTCACGGGGAGAGTGA	0.612																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1045-1047)Ggg>Agg		pleckstrin and Sec7 domain containing 4																																				SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113941078G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1045G>A	2.37:g.113941078G>A	ENSP00000245796:p.Gly349Arg					PSD4_ENST00000441564.2_Missense_Mutation_p.G349R	p.G349R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	1240	+			349					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1045G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588667	0.28357	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.12361	2.83;2.69	5.49	0.547	0.17202	.	1.970240	0.01880	N	0.037806	T	0.10078	0.0247	L	0.27053	0.805	0.09310	N	1	B;B	0.21225	0.04;0.053	B;B	0.09377	0.003;0.004	T	0.25117	-1.0141	9	.	.	.	.	4.8987	0.13764	0.3198:0.0:0.5399:0.1403	.	349;349	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	R	349	ENSP00000245796:G349R;ENSP00000413997:G349R	.	G	+	1	0	PSD4	113657549	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.804000	0.27098	0.100000	0.17581	-0.811000	0.03165	GGG		0.612	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	15	0	0	0	1	0	7	15				
KIF18B	146909	broad.mit.edu	37	17	43006261	43006261	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43006261G>T	ENST00000593135.1	-	12	1746	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	KIF18B_ENST00000339151.4_Missense_Mutation_p.P562H|KIF18B_ENST00000438933.2_Missense_Mutation_p.P562H|KIF18B_ENST00000587309.1_Missense_Mutation_p.P562H|KIF18B_ENST00000590129.1_Missense_Mutation_p.P571H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	571					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTCTGCCCCAGGCTCAATTTT	0.592																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1684-1686)cCt>cAt		kinesin family member 18B							63.0	63.0	63.0					17																	43006261		1979	4168	6147	SO:0001583	missense	146909							g.chr17:43006261G>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1649C>A	17.37:g.43006261G>T	ENSP00000465992:p.Pro550His					KIF18B_ENST00000438933.2_Missense_Mutation_p.P562H|KIF18B_ENST00000593135.1_Missense_Mutation_p.P550H|KIF18B_ENST00000590129.1_Missense_Mutation_p.P571H|KIF18B_ENST00000339151.4_Missense_Mutation_p.P562H	p.P562H	NM_001264573.1	NP_001251503.1					12	1708	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1685C>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953009	0.18431	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.62788	-0.0;-0.0	4.8	2.76	0.32466	.	.	.	.	.	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;B;B	0.15473	0.002;0.013;0.003	B;B;B	0.18561	0.004;0.022;0.01	T	0.43653	-0.9378	9	0.51188	T	0.08	.	5.6872	0.17809	0.1003:0.0:0.7004:0.1994	.	571;559;571	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	562	ENSP00000412798:P562H;ENSP00000341466:P562H	ENSP00000341466:P562H	P	-	2	0	KIF18B	40361787	0.014000	0.17966	0.007000	0.13788	0.021000	0.10359	1.955000	0.40372	0.573000	0.29400	-0.254000	0.11334	CCT		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		4	17	1	0	0.150653	1	0.151081	4	17				
HSPH1	10808	broad.mit.edu	37	13	31724105	31724105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31724105C>A	ENST00000320027.5	-	8	1467	c.1123G>T	c.(1123-1125)Gga>Tga	p.G375*	HSPH1_ENST00000380405.4_Nonsense_Mutation_p.G375*|HSPH1_ENST00000429785.2_Nonsense_Mutation_p.G194*|HSPH1_ENST00000380406.5_Nonsense_Mutation_p.G334*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.G377*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	375					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AATGCACATCCTCTGGCTACT	0.423																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1123-1125)Gga>Tga		heat shock 105kDa/110kDa protein 1							109.0	104.0	106.0					13																	31724105		2203	4300	6503	SO:0001587	stop_gained	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31724105C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1123G>T	13.37:g.31724105C>A	ENSP00000318687:p.Gly375*					HSPH1_ENST00000380406.5_Nonsense_Mutation_p.G334*|HSPH1_ENST00000429785.2_Nonsense_Mutation_p.G194*|HSPH1_ENST00000380405.4_Nonsense_Mutation_p.G375*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.G377*	p.G375*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	8	1467	-		Lung SC(185;0.0257)	375					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Nonsense_Mutation	SNP	ENST00000320027.5	37	c.1123G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	38	6.991064	0.97987	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.0178	19.7842	0.96430	0.0:1.0:0.0:0.0	.	.	.	.	X	375;375;334;377;194;426	.	ENSP00000318687:G375X	G	-	1	0	HSPH1	30622105	1.000000	0.71417	0.954000	0.39281	0.534000	0.34807	7.487000	0.81328	2.676000	0.91093	0.591000	0.81541	GGA		0.423	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			27	47	1	0	8.24728e-16	1	9.04077e-16	27	47				
SLC35C1	55343	broad.mit.edu	37	11	45832372	45832372	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45832372T>C	ENST00000314134.3	+	2	1977	c.581T>C	c.(580-582)cTg>cCg	p.L194P	SLC35C1_ENST00000442528.2_Missense_Mutation_p.L181P|SLC35C1_ENST00000456334.1_Missense_Mutation_p.L181P|CTD-2210P24.6_ENST00000534128.1_lincRNA	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	194					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GAAGGCACCCTGTCGTGGCTG	0.657																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(580-582)cTg>cCg		solute carrier family 35 (GDP-fucose transporter), member C1							45.0	47.0	46.0					11																	45832372		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45832372T>C		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.581T>C	11.37:g.45832372T>C	ENSP00000313318:p.Leu194Pro					SLC35C1_ENST00000456334.1_Missense_Mutation_p.L181P|SLC35C1_ENST00000442528.2_Missense_Mutation_p.L181P	p.L194P	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	2	1977	+			194					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.581T>C	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671436	0.67814	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.67345	-0.25;-0.25;-0.26	6.08	6.08	0.98989	.	0.061401	0.64402	D	0.000003	D	0.83658	0.5302	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85919	0.1445	10	0.66056	D	0.02	-11.7661	16.6438	0.85155	0.0:0.0:0.0:1.0	.	194	Q96A29	FUCT1_HUMAN	P	181;181;115;194;194	ENSP00000412408:L181P;ENSP00000399779:L181P;ENSP00000313318:L194P	ENSP00000313318:L194P	L	+	2	0	SLC35C1	45788948	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.799000	0.85936	2.333000	0.79357	0.533000	0.62120	CTG		0.657	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		11	19	0	0	0	1	0	11	19				
DNAAF1	123872	broad.mit.edu	37	16	84211392	84211392	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84211392G>A	ENST00000378553.5	+	12	2247	c.2123G>A	c.(2122-2124)aGc>aAc	p.S708N	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	708					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GCCCAGCCCAGCCAAGCTCTG	0.542																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(2122-2124)aGc>aAc		dynein, axonemal, assembly factor 1							121.0	111.0	115.0					16																	84211392		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84211392G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2123G>A	16.37:g.84211392G>A	ENSP00000367815:p.Ser708Asn					DNAAF1_ENST00000563818.1_3'UTR	p.S708N	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			12	2247	+			708					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.2123G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506466	0.26949	.	.	ENSG00000154099	ENST00000378553	T	0.28255	1.62	2.91	-5.81	0.02340	.	.	.	.	.	T	0.15089	0.0364	L	0.36672	1.1	0.09310	N	0.999998	P;P	0.45827	0.867;0.654	B;B	0.41271	0.352;0.079	T	0.17899	-1.0354	9	0.10377	T	0.69	1.4862	2.1682	0.03843	0.1053:0.266:0.1764:0.4523	.	472;708	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	N	708	ENSP00000367815:S708N	ENSP00000367815:S708N	S	+	2	0	DNAAF1	82768893	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.278000	0.18753	-1.431000	0.01982	0.596000	0.82720	AGC		0.542	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		7	49	0	0	0	1	0	7	49				
MAP3K6	9064	broad.mit.edu	37	1	27687252	27687252	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27687252G>A	ENST00000493901.1	-	16	2237	c.1998C>T	c.(1996-1998)cgC>cgT	p.R666R	MAP3K6_ENST00000374040.3_Silent_p.R658R|MAP3K6_ENST00000357582.2_Silent_p.R666R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGCGATCGCGGCCCGCGT	0.697																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1996-1998)cgC>cgT		mitogen-activated protein kinase kinase kinase 6							23.0	26.0	25.0					1																	27687252		2200	4298	6498	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687252G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1998C>T	1.37:g.27687252G>A						MAP3K6_ENST00000357582.2_Silent_p.R666R|MAP3K6_ENST00000374040.3_Silent_p.R658R	p.R666R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	16	2237	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	666			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1998C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818627	0.16607	.	.	ENSG00000142733	ENST00000472410	.	.	.	4.55	-0.0554	0.13809	.	.	.	.	.	T	0.50786	0.1636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	4	.	.	.	.	5.6611	0.17670	0.0864:0.3659:0.4415:0.1062	.	.	.	.	V	390	.	.	A	-	2	0	MAP3K6	27559839	0.009000	0.17119	0.954000	0.39281	0.474000	0.32979	-1.107000	0.03316	-0.082000	0.12640	-1.134000	0.01955	GCG		0.697	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		8	16	0	0	0	1	0	8	16				
ST8SIA5	29906	broad.mit.edu	37	18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(856-858)tCg>tTg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							109.0	81.0	91.0					18																	44260279		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260279G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.857C>T	18.37:g.44260279G>A	ENSP00000321343:p.Ser286Leu					ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L	p.S286L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1517	-			286					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.857C>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664650	0.67700	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.30448	1.53;1.53;1.53	5.51	5.51	0.81932	.	0.144412	0.49305	D	0.000160	T	0.33847	0.0877	L	0.43152	1.355	0.48341	D	0.999633	P;B;D	0.58970	0.948;0.134;0.984	B;B;P	0.47827	0.254;0.067;0.558	T	0.03750	-1.1007	10	0.11182	T	0.66	-5.6475	19.4172	0.94706	0.0:0.0:1.0:0.0	.	255;322;286	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	L	286;322;255	ENSP00000321343:S286L;ENSP00000445492:S322L;ENSP00000443683:S255L	ENSP00000321343:S286L	S	-	2	0	ST8SIA5	42514277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.205000	0.65186	2.584000	0.87258	0.561000	0.74099	TCG		0.617	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		16	14	0	0	0	1	0	16	14				
ALKBH4	54784	broad.mit.edu	37	7	102098266	102098266	+	Missense_Mutation	SNP	G	G	A	rs372884323		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102098266G>A	ENST00000292566.3	-	3	523	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	162					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GCAGAGCCCCGCTCGGGGCAG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		14501	0.001		0.0	False		,,,				2504	0.0					ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(484-486)Cgg>Tgg		alkB, alkylation repair homolog 4 (E. coli)		G	TRP/ARG	0,4396		0,0,2198	15.0	16.0	16.0		484	1.8	0.4	7		16	1,8567		0,1,4283	no	missense	ALKBH4	NM_017621.3	101	0,1,6481	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	162/303	102098266	1,12963	2198	4284	6482	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098266G>A	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.484C>T	7.37:g.102098266G>A	ENSP00000292566:p.Arg162Trp						p.R162W	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	523	-			162					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.484C>T	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847517	0.51164	0.0	1.17E-4	ENSG00000160993	ENST00000292566	T	0.14391	2.51	4.56	1.79	0.24919	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.88105	2.93	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.05022	-1.0911	10	0.87932	D	0	-10.2001	3.6789	0.08302	0.2693:0.0:0.4749:0.2558	.	162	Q9NXW9	ALKB4_HUMAN	W	162	ENSP00000292566:R162W	ENSP00000292566:R162W	R	-	1	2	ALKBH4	101885271	1.000000	0.71417	0.370000	0.25965	0.714000	0.41099	1.457000	0.35212	0.189000	0.20188	-0.258000	0.10820	CGG		0.701	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		10	12	0	0	0	1	0	10	12				
PNPLA6	10908	broad.mit.edu	37	19	7607506	7607506	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7607506G>A	ENST00000221249.6	+	14	1626	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	PNPLA6_ENST00000414982.3_Missense_Mutation_p.V447M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.V399M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V438M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V399M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	438					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGGATCTCCGTGTCCCTGCA	0.677																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)Gtg>Atg		patatin-like phospholipase domain containing 6							27.0	32.0	30.0					19																	7607506		2202	4299	6501	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7607506G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1195G>A	19.37:g.7607506G>A	ENSP00000221249:p.Val399Met					PNPLA6_ENST00000414982.3_Missense_Mutation_p.V447M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.V438M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.V399M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.V399M	p.V399M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			14	1626	+			438					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1195G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689745	0.29962	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.04454	3.69;3.62;3.69;3.69	5.24	1.9	0.25705	.	0.338573	0.30085	N	0.010450	T	0.04907	0.0132	L	0.51422	1.61	0.35697	D	0.815318	B;B;B;B	0.18013	0.006;0.025;0.011;0.006	B;B;B;B	0.20577	0.007;0.03;0.016;0.01	T	0.28299	-1.0048	10	0.35671	T	0.21	.	5.3463	0.16010	0.1824:0.1668:0.6508:0.0	.	438;399;438;399	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	M	399;399;447;336;399	ENSP00000221249:V399M;ENSP00000443323:V399M;ENSP00000407509:V447M;ENSP00000394348:V399M	ENSP00000221249:V399M	V	+	1	0	PNPLA6	7513506	0.876000	0.30132	0.349000	0.25694	0.643000	0.38383	0.524000	0.22940	0.207000	0.20607	-0.140000	0.14226	GTG		0.677	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		14	19	0	0	0	1	0	14	19				
G3BP2	9908	broad.mit.edu	37	4	76570792	76570792	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:76570792C>T	ENST00000359707.4	-	12	2056	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	G3BP2_ENST00000395719.3_Missense_Mutation_p.R424H|G3BP2_ENST00000357854.3_Missense_Mutation_p.R391H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	424	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATATCCCTGCGATCATCACC	0.498																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1270-1272)cGc>cAc		GTPase activating protein (SH3 domain) binding protein 2							272.0	212.0	232.0					4																	76570792		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570792C>T	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1271G>A	4.37:g.76570792C>T	ENSP00000352738:p.Arg424His					G3BP2_ENST00000395719.3_Missense_Mutation_p.R424H|G3BP2_ENST00000357854.3_Missense_Mutation_p.R391H	p.R424H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	2056	-			424			Gly-rich.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1271G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329933	0.81690	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.75154	-0.91;-0.91;-0.91	6.17	6.17	0.99709	.	0.043515	0.85682	D	0.000000	T	0.82075	0.4958	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.72075	0.725;0.976	T	0.73630	-0.3922	10	0.12103	T	0.63	-8.4454	20.8794	0.99867	0.0:1.0:0.0:0.0	.	391;424	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	424;424;391	ENSP00000379069:R424H;ENSP00000352738:R424H;ENSP00000350518:R391H	ENSP00000350518:R391H	R	-	2	0	G3BP2	76789816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	CGC		0.498	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		32	22	0	0	0	1	0	32	22				
NR2C2AP	126382	broad.mit.edu	37	19	19313664	19313664	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19313664G>A	ENST00000331552.7	-	2	428	c.65C>T	c.(64-66)aCt>aTt	p.T22I	NR2C2AP_ENST00000420605.3_Missense_Mutation_p.T22I|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.T22I|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.T22I	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	22					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AAACTGCCGAGTGTTGCGATT	0.582																																						ENST00000331552.6																			0				breast(1)|cervix(1)|kidney(2)|ovary(1)	5						c.(64-66)aCt>aTt		nuclear receptor 2C2-associated protein							104.0	97.0	99.0					19																	19313664		2203	4300	6503	SO:0001583	missense	126382				cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm		g.chr19:19313664G>A	AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.65C>T	19.37:g.19313664G>A	ENSP00000332823:p.Thr22Ile					NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000538165.2_Missense_Mutation_p.T22I|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.T22I|NR2C2AP_ENST00000420605.2_Missense_Mutation_p.T22I	p.T22I	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	Epithelial(12;0.00235)		2	428	-			22					A6NGP7|B4DW92	Missense_Mutation	SNP	ENST00000331552.7	37	c.65C>T	CCDS32967.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198566	0.38806	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	D;D	0.98329	-4.87;-4.87	4.08	-1.14	0.09741	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.392191	0.24730	N	0.036075	D	0.91630	0.7355	N	0.20685	0.6	0.20926	N	0.99983	B;B	0.30146	0.27;0.032	B;B	0.24541	0.054;0.019	D	0.85662	0.1289	10	0.23891	T	0.37	-11.2965	2.2316	0.03998	0.1205:0.3836:0.314:0.1819	.	22;22	B4DW92;Q86WQ0	.;NR2CA_HUMAN	I	22	ENSP00000332823:T22I;ENSP00000402756:T22I	ENSP00000332823:T22I	T	-	2	0	NR2C2AP	19174664	0.966000	0.33281	0.102000	0.21198	0.920000	0.55202	1.868000	0.39509	0.026000	0.15269	0.462000	0.41574	ACT		0.582	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402936.4	NM_176880		21	34	0	0	0	1	0	21	34				
HDC	3067	broad.mit.edu	37	15	50546791	50546791	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:50546791G>A	ENST00000267845.3	-	5	914	c.512C>T	c.(511-513)aCg>aTg	p.T171M	HDC_ENST00000543581.1_Missense_Mutation_p.T171M	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GGGCTCAGACGTTTTCATTTC	0.552																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(511-513)aCg>aTg		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						106.0	96.0	99.0					15																	50546791		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50546791G>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.512C>T	15.37:g.50546791G>A	ENSP00000267845:p.Thr171Met					HDC_ENST00000543581.1_Missense_Mutation_p.T171M	p.T171M	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	5	914	-		all_lung(180;0.0138)	171						Missense_Mutation	SNP	ENST00000267845.3	37	c.512C>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	G	7.793	0.712008	0.15306	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.38401	1.14;1.14	5.79	-6.07	0.02158	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.244700	0.05238	N	0.511660	T	0.21186	0.0510	L	0.31752	0.955	0.09310	N	1	B;B	0.28667	0.219;0.002	B;B	0.32149	0.141;0.013	T	0.32134	-0.9918	10	0.59425	D	0.04	4.1908	0.2415	0.00193	0.3499:0.1744:0.2153:0.2603	.	171;171	B7ZM01;P19113	.;DCHS_HUMAN	M	171	ENSP00000267845:T171M;ENSP00000440252:T171M	ENSP00000267845:T171M	T	-	2	0	HDC	48334083	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.307000	0.08167	-0.710000	0.05001	-1.779000	0.00650	ACG		0.552	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			10	25	0	0	0	1	0	10	25				
PARM1	25849	broad.mit.edu	37	4	75938008	75938008	+	Silent	SNP	G	G	A	rs555343310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:75938008G>A	ENST00000307428.7	+	2	629	c.417G>A	c.(415-417)tcG>tcA	p.S139S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	139					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTACACTGTCGCAGTCCGCTG	0.582													g|||	2	0.000399361	0.0	0.0	5008	,	,		19152	0.0		0.0	False		,,,				2504	0.002					ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(415-417)tcG>tcA		prostate androgen-regulated mucin-like protein 1							135.0	149.0	144.0					4																	75938008		2129	4242	6371	SO:0001819	synonymous_variant	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938008G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.417G>A	4.37:g.75938008G>A						PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.S139S	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	629	+			139					B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	c.417G>A	CCDS47077.1																																																																																				0.582	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		29	55	0	0	0	1	0	29	55				
KCNH7	90134	broad.mit.edu	37	2	163292018	163292018	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:163292018G>A	ENST00000332142.5	-	8	1743	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	KCNH7_ENST00000328032.4_Silent_p.G541G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAACAGCAGCGCCATATTCTG	0.463																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1642-1644)ggC>ggT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						82.0	78.0	80.0					2																	163292018		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292018G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1644C>T	2.37:g.163292018G>A						KCNH7_ENST00000328032.4_Silent_p.G541G	p.G548G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1743	-			548					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1644C>T	CCDS2219.1																																																																																				0.463	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		6	15	0	0	0	1	0	6	15				
TEKT5	146279	broad.mit.edu	37	16	10769939	10769939	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10769939C>A	ENST00000283025.2	-	5	1034	c.963G>T	c.(961-963)gaG>gaT	p.E321D		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	321						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CAAAGAGGTGCTCCGCCTCCT	0.552																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(961-963)gaG>gaT		tektin 5							144.0	120.0	129.0					16																	10769939		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10769939C>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.963G>T	16.37:g.10769939C>A	ENSP00000283025:p.Glu321Asp						p.E321D	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			5	1034	-			321					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.963G>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154452	0.21371	.	.	ENSG00000153060	ENST00000283025	T	0.02236	4.38	4.68	0.103	0.14526	.	0.325530	0.25944	N	0.027297	T	0.00967	0.0032	N	0.04959	-0.14	0.46437	D	0.999048	B	0.06786	0.001	B	0.15052	0.012	T	0.51818	-0.8657	10	0.09843	T	0.71	-20.6429	3.6556	0.08220	0.1341:0.5772:0.1305:0.1582	.	321	Q96M29	TEKT5_HUMAN	D	321	ENSP00000283025:E321D	ENSP00000283025:E321D	E	-	3	2	TEKT5	10677440	0.970000	0.33590	0.915000	0.36163	0.619000	0.37552	0.538000	0.23160	0.157000	0.19338	-1.092000	0.02172	GAG		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		12	74	1	0	4.3838e-07	1	4.58243e-07	12	74				
LRIF1	55791	broad.mit.edu	37	1	111494603	111494603	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111494603C>T	ENST00000369763.4	-	2	1293	c.903G>A	c.(901-903)acG>acA	p.T301T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAGAGATGGCGTAAAAGGCT	0.348																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(901-903)acG>acA		ligand dependent nuclear receptor interacting factor 1							100.0	95.0	96.0					1																	111494603		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494603C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.903G>A	1.37:g.111494603C>T						LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	p.T301T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1293	-			301					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.903G>A	CCDS30800.1																																																																																				0.348	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		28	39	0	0	0	1	0	28	39				
GPR113	165082	broad.mit.edu	37	2	26539917	26539917	+	Missense_Mutation	SNP	G	G	A	rs180836893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26539917G>A	ENST00000311519.1	-	4	364	c.365C>T	c.(364-366)gCg>gTg	p.A122V	GPR113_ENST00000541401.1_Intron|GPR113_ENST00000333478.6_Missense_Mutation_p.A63V|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.A53V	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	122					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGACCAGCGCTGATTCTAC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17071	0.0		0.0	False		,,,				2504	0.0					ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(187-189)gCg>gTg		G protein-coupled receptor 113							52.0	52.0	52.0					2																	26539917		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26539917G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.365C>T	2.37:g.26539917G>A	ENSP00000307831:p.Ala122Val					GPR113_ENST00000311519.1_Missense_Mutation_p.A122V|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.A53V	p.A63V	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			3	770	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		122					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.188C>T	CCDS46239.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.38	1.919185	0.33908	.	.	ENSG00000173567	ENST00000333478;ENST00000421160;ENST00000311519;ENST00000433584	T;T;T	0.28666	1.64;1.73;1.6	4.57	-6.61	0.01818	.	.	.	.	.	T	0.13415	0.0325	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.36841	-0.9731	9	0.18276	T	0.48	-35.3905	15.0522	0.71881	0.2292:0.0:0.7708:0.0	.	53;63;122	E9PEV1;Q8IZF5-2;Q8IZF5	.;.;GP113_HUMAN	V	63;53;122;63	ENSP00000327396:A63V;ENSP00000388537:A53V;ENSP00000307831:A122V	ENSP00000307831:A122V	A	-	2	0	GPR113	26393421	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.387000	0.07361	-1.272000	0.02427	-0.424000	0.05967	GCG		0.592	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		8	6	0	0	0	1	0	8	6				
KIFC3	3801	broad.mit.edu	37	16	57798061	57798061	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57798061C>T	ENST00000379655.4	-	12	1868	c.1611G>A	c.(1609-1611)acG>acA	p.T537T	KIFC3_ENST00000543930.1_Silent_p.T395T|KIFC3_ENST00000541240.1_Silent_p.T559T|KIFC3_ENST00000445690.2_Silent_p.T537T|KIFC3_ENST00000562903.1_Silent_p.T398T|KIFC3_ENST00000465878.2_Silent_p.T398T|KIFC3_ENST00000421376.2_Silent_p.T398T|KIFC3_ENST00000539578.1_Silent_p.T479T|KIFC3_ENST00000540079.2_Silent_p.T435T	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	537	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCACCTCCATCGTGTACGTCT	0.577																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1609-1611)acG>acA		kinesin family member C3							75.0	67.0	70.0					16																	57798061		2198	4300	6498	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57798061C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1611G>A	16.37:g.57798061C>T						KIFC3_ENST00000541240.1_Silent_p.T559T|KIFC3_ENST00000465878.2_Silent_p.T398T|KIFC3_ENST00000543930.1_Silent_p.T395T|KIFC3_ENST00000540079.2_Silent_p.T435T|KIFC3_ENST00000539578.1_Silent_p.T479T|KIFC3_ENST00000445690.2_Silent_p.T537T|KIFC3_ENST00000421376.2_Silent_p.T398T|KIFC3_ENST00000562903.1_Silent_p.T398T	p.T537T	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1868	-		all_neural(199;0.224)	537			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1611G>A	CCDS10789.2																																																																																				0.577	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		11	25	0	0	0	1	0	11	25				
GPR113	165082	broad.mit.edu	37	2	26534169	26534169	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:26534169G>A	ENST00000311519.1	-	11	2426	c.2427C>T	c.(2425-2427)caC>caT	p.H809H	GPR113_ENST00000541401.1_Silent_p.H412H|GPR113_ENST00000333478.6_Silent_p.H610H|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.H740H	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	809					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGGCGGCGTGGCGGAAAT	0.622																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1828-1830)caC>caT		G protein-coupled receptor 113							70.0	56.0	60.0					2																	26534169		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534169G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2427C>T	2.37:g.26534169G>A						GPR113_ENST00000311519.1_Silent_p.H809H|GPR113_ENST00000541401.1_Silent_p.H412H|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Silent_p.H740H	p.H610H	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2412	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		809					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.1830C>T	CCDS46239.1																																																																																				0.622	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		5	11	0	0	0	1	0	5	11				
OSBPL8	114882	broad.mit.edu	37	12	76844712	76844712	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:76844712G>A	ENST00000261183.3	-	4	615	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	OSBPL8_ENST00000393250.4_Missense_Mutation_p.R4C|OSBPL8_ENST00000393249.2_Missense_Mutation_p.R4C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	46					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTCCTTGGCGCTGACTCATC	0.443																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(136-138)Cgc>Tgc		oxysterol binding protein-like 8							159.0	138.0	145.0					12																	76844712		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76844712G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.136C>T	12.37:g.76844712G>A	ENSP00000261183:p.Arg46Cys					OSBPL8_ENST00000393249.2_Missense_Mutation_p.R4C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R4C	p.R46C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			4	615	-			46					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.136C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406271	0.62288	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000548341;ENST00000553139;ENST00000549570;ENST00000551927;ENST00000547544	T;T;T;T;T;T	0.53857	1.32;2.61;1.32;2.61;2.61;0.6	5.66	4.76	0.60689	.	0.368655	0.29752	N	0.011290	T	0.42268	0.1195	N	0.19112	0.55	0.50813	D	0.999896	D	0.69078	0.997	B	0.44315	0.446	T	0.47420	-0.9119	10	0.66056	D	0.02	-3.9225	14.6966	0.69126	0.0:0.0:0.8536:0.1464	.	46	Q9BZF1	OSBL8_HUMAN	C	4;46;31;4;46;46;33;4;4;46;43	ENSP00000376939:R4C;ENSP00000261183:R46C;ENSP00000376940:R4C;ENSP00000450238:R46C;ENSP00000446886:R33C;ENSP00000449618:R4C	ENSP00000261183:R46C	R	-	1	0	OSBPL8	75368843	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.153000	0.71819	1.373000	0.46208	-0.182000	0.12963	CGC		0.443	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		4	64	0	0	0	1	0	4	64				
MYH6	4624	broad.mit.edu	37	14	23853677	23853677	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23853677G>A	ENST00000356287.3	-	35	5568	c.5539C>T	c.(5539-5541)Cgg>Tgg	p.R1847W	MYH6_ENST00000405093.3_Missense_Mutation_p.R1847W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1847					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGATGCGCCGCTCGCTCTTC	0.652																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5539-5541)Cgg>Tgg		myosin, heavy chain 6, cardiac muscle, alpha							122.0	122.0	122.0					14																	23853677		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853677G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5539C>T	14.37:g.23853677G>A	ENSP00000348634:p.Arg1847Trp					MYH6_ENST00000356287.3_Missense_Mutation_p.R1847W	p.R1847W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5609	-	all_cancers(95;2.54e-05)		1847					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5539C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	18.45	3.627555	0.66901	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83914	-1.78;-1.78	4.3	3.33	0.38152	Myosin tail (1);	.	.	.	.	D	0.93575	0.7949	H	0.97265	3.97	0.50813	D	0.999895	D	0.89917	1.0	D	0.97110	1.0	D	0.94643	0.7832	9	0.87932	D	0	.	12.1652	0.54125	0.0:0.0:0.7026:0.2974	.	1847	P13533	MYH6_HUMAN	W	1847	ENSP00000386041:R1847W;ENSP00000348634:R1847W	ENSP00000348634:R1847W	R	-	1	2	MYH6	22923517	0.911000	0.30947	1.000000	0.80357	0.998000	0.95712	-0.020000	0.12525	2.395000	0.81488	0.561000	0.74099	CGG		0.652	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			50	85	0	0	0	1	0	50	85				
RMI1	80010	broad.mit.edu	37	9	86617190	86617190	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86617190C>T	ENST00000325875.3	+	3	1621	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	430					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATAAAACAAACCAGCAGTTCA	0.284																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1288-1290)aCc>aTc		RecQ mediated genome instability 1							37.0	44.0	42.0					9																	86617190		2182	4282	6464	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617190C>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1289C>T	9.37:g.86617190C>T	ENSP00000317039:p.Thr430Ile						p.T430I	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1621	+			430					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1289C>T	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	5.878	0.346056	0.11126	.	.	ENSG00000178966	ENST00000325875	T	0.32515	1.45	5.21	-2.81	0.05805	.	1.540700	0.03547	N	0.224886	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10776	-1.0615	9	.	.	.	0.8107	1.4715	0.02417	0.1217:0.3655:0.2369:0.276	.	430	Q9H9A7	RMI1_HUMAN	I	430	ENSP00000317039:T430I	.	T	+	2	0	RMI1	85807010	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-0.344000	0.07780	-0.511000	0.06514	0.655000	0.94253	ACC		0.284	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		19	28	0	0	0	1	0	19	28				
EFCAB13	124989	broad.mit.edu	37	17	45456578	45456578	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45456578T>C	ENST00000331493.2	+	14	1952	c.1541T>C	c.(1540-1542)gTa>gCa	p.V514A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.V418A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	514	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GATGACTTTGTAAATGCTCTC	0.338																																						ENST00000331493.2																			0											c.(1540-1542)gTa>gCa		EF-hand calcium binding domain 13							111.0	104.0	106.0					17																	45456578		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45456578T>C	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1541T>C	17.37:g.45456578T>C	ENSP00000332111:p.Val514Ala					EFCAB13_ENST00000517484.1_Missense_Mutation_p.V418A	p.V514A	NM_152347.4	NP_689560.3					14	1952	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1541T>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	9.045	0.990585	0.18966	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.65549	0.24;-0.16;0.91	3.5	2.41	0.29592	EF-hand-like domain (1);	1.368180	0.04718	N	0.418775	T	0.49508	0.1561	N	0.22421	0.69	0.09310	N	1	B;B;B	0.18310	0.027;0.017;0.003	B;B;B	0.19391	0.025;0.022;0.009	T	0.43956	-0.9359	10	0.87932	D	0	0.0265	5.7008	0.17881	0.0:0.1304:0.0:0.8696	.	466;514;418	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	514;418;466;40	ENSP00000332111:V514A;ENSP00000430048:V418A;ENSP00000429566:V40A	ENSP00000332111:V514A	V	+	2	0	C17orf57	42811577	0.239000	0.23836	0.059000	0.19551	0.016000	0.09150	1.524000	0.35942	0.504000	0.28082	-0.736000	0.03550	GTA		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		9	32	0	0	0	1	0	9	32				
SPTA1	6708	broad.mit.edu	37	1	158639538	158639538	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158639538G>A	ENST00000368147.4	-	13	1818	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	546					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCATAATGGTCATCACCAA	0.408																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1636-1638)gaC>gaT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							232.0	214.0	220.0					1																	158639538		1903	4116	6019	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639538G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1638C>T	1.37:g.158639538G>A						SPTA1_ENST00000368147.3_Silent_p.D546D	p.D546D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			13	1818	-	all_hematologic(112;0.0378)		546					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1638C>T	CCDS41423.1																																																																																				0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		70	101	0	0	0	1	0	70	101				
HECTD4	283450	broad.mit.edu	37	12	112667566	112667566	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112667566G>A	ENST00000430131.2	-	40	6334	c.5189C>T	c.(5188-5190)gCc>gTc	p.A1730V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2006V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1980V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1730					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCGGCAACGGCCTGGCGTGC	0.493																																						ENST00000550722.1																			0											c.(6016-6018)gCc>gTc		HECT domain containing E3 ubiquitin protein ligase 4							148.0	151.0	150.0					12																	112667566		1968	4138	6106	SO:0001583	missense	283450							g.chr12:112667566G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5189C>T	12.37:g.112667566G>A	ENSP00000404379:p.Ala1730Val					HECTD4_ENST00000377560.5_Missense_Mutation_p.A1980V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A1730V	p.A2006V	NM_001109662.3	NP_001103132.3					41	6412	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6017C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.183494	0.78677	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48522	0.81;0.81;0.81	5.96	5.96	0.96718	.	.	.	.	.	T	0.50514	0.1620	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.53173	-0.8476	9	0.30078	T	0.28	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1730	Q9Y4D8	K0614_HUMAN	V	1980;1730;2006	ENSP00000366783:A1980V;ENSP00000404379:A1730V;ENSP00000449784:A2006V	ENSP00000366783:A1980V	A	-	2	0	C12orf51	111151949	1.000000	0.71417	0.972000	0.41901	0.884000	0.51177	9.175000	0.94831	2.831000	0.97527	0.650000	0.86243	GCC		0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		38	43	0	0	0	1	0	38	43				
MARCH5	54708	broad.mit.edu	37	10	94109442	94109442	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94109442G>A	ENST00000358935.2	+	5	900	c.568G>A	c.(568-570)Gtt>Att	p.V190I	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	190					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGTTGTCCTGTTCCTCGAAT	0.413																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(568-570)Gtt>Att		membrane-associated ring finger (C3HC4) 5							321.0	319.0	320.0					10																	94109442		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109442G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.568G>A	10.37:g.94109442G>A	ENSP00000351813:p.Val190Ile					MARCH5_ENST00000467521.2_3'UTR	p.V190I	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	900	+			190						Missense_Mutation	SNP	ENST00000358935.2	37	c.568G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257187	0.59321	.	.	ENSG00000198060	ENST00000358935	T	0.43294	0.95	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	N	0.22421	0.69	0.80722	D	1	B	0.16603	0.018	B	0.09377	0.004	T	0.07385	-1.0775	10	0.21014	T	0.42	-17.3084	20.5407	0.99260	0.0:0.0:1.0:0.0	.	190	Q9NX47	MARH5_HUMAN	I	190	ENSP00000351813:V190I	ENSP00000351813:V190I	V	+	1	0	MARCH5	94099422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.865000	0.98341	0.655000	0.94253	GTT		0.413	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		125	174	0	0	0	1	0	125	174				
HLA-DRB5	3127	broad.mit.edu	37	6	32489898	32489898	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32489898G>A	ENST00000374975.3	-	2	216	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AACCGCACCCGCTCCGTCCCG	0.617																																						ENST00000374975.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						c.(154-156)Cgg>Tgg		major histocompatibility complex, class II, DR beta 5							28.0	28.0	28.0					6																	32489898		1579	3013	4592	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32489898G>A		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.154C>T	6.37:g.32489898G>A	ENSP00000364114:p.Arg52Trp						p.R52W	NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN			2	216	-			52			Beta-1.			Missense_Mutation	SNP	ENST00000374975.3	37	c.154C>T	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.996385	0.35226	.	.	ENSG00000198502	ENST00000374975	T	0.00297	8.23	4.81	3.93	0.45458	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.673446	0.14973	N	0.287676	T	0.00608	0.0020	H	0.97491	4.015	0.36179	D	0.849316	D	0.89917	1.0	D	0.97110	1.0	T	0.16988	-1.0384	10	0.87932	D	0	.	10.2514	0.43370	0.0:0.0:0.6403:0.3597	.	52	Q30154	DRB5_HUMAN	W	52	ENSP00000364114:R52W	ENSP00000364114:R52W	R	-	1	2	HLA-DRB5	32597876	0.819000	0.29175	0.508000	0.27688	0.011000	0.07611	1.014000	0.29950	0.992000	0.38840	-0.723000	0.03601	CGG		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		9	14	0	0	0	1	0	9	14				
SLC4A5	57835	broad.mit.edu	37	2	74492275	74492275	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74492275G>A	ENST00000377634.4	-	9	917	c.518C>T	c.(517-519)aCg>aTg	p.T173M	SLC4A5_ENST00000357822.5_Missense_Mutation_p.T173M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.T109M|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.T173M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.T173M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.T173M					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCAGCACCGTCCCCGTCTG	0.607																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(517-519)aCg>aTg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							117.0	107.0	110.0					2																	74492275		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74492275G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.518C>T	2.37:g.74492275G>A	ENSP00000366861:p.Thr173Met					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.T173M|SLC4A5_ENST00000377632.1_Missense_Mutation_p.T173M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.T109M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.T173M|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.T173M	p.T173M	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			9	915	-			173						Missense_Mutation	SNP	ENST00000377634.4	37	c.518C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916248	0.73098	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	4.79	4.79	0.61399	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.106583	0.64402	D	0.000005	D	0.82426	0.5034	M	0.89601	3.045	0.43007	D	0.994532	D;D;D;D;D	0.71674	0.989;0.995;0.991;0.996;0.998	P;D;P;D;D	0.66196	0.855;0.919;0.832;0.937;0.942	D	0.85448	0.1159	10	0.72032	D	0.01	.	11.3904	0.49811	0.0:0.1829:0.8171:0.0	.	173;173;109;173;173	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	M	173;173;173;109;173;109;173;173;173;173;57	ENSP00000377587:T173M;ENSP00000251768:T173M;ENSP00000352461:T109M;ENSP00000395804:T173M;ENSP00000351513:T109M;ENSP00000350475:T173M;ENSP00000366859:T173M;ENSP00000366861:T173M;ENSP00000405678:T173M;ENSP00000414162:T57M	ENSP00000251768:T173M	T	-	2	0	SLC4A5	74345783	1.000000	0.71417	0.969000	0.41365	0.992000	0.81027	6.331000	0.72929	2.641000	0.89580	0.591000	0.81541	ACG		0.607	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	38	0	0	0	1	0	8	38				
AGL	178	broad.mit.edu	37	1	100346680	100346680	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100346680G>A	ENST00000294724.4	+	15	2426	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	AGL_ENST00000361302.3_Missense_Mutation_p.A634T|AGL_ENST00000370165.3_Missense_Mutation_p.A650T|AGL_ENST00000361915.3_Missense_Mutation_p.A650T|AGL_ENST00000361522.4_Missense_Mutation_p.A633T|AGL_ENST00000370161.2_Missense_Mutation_p.A634T|AGL_ENST00000370163.3_Missense_Mutation_p.A650T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	650					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTTCTATGGCATGTTGTGC	0.368																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1948-1950)Gca>Aca		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							188.0	171.0	177.0					1																	100346680		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346680G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1948G>A	1.37:g.100346680G>A	ENSP00000294724:p.Ala650Thr					AGL_ENST00000370161.2_Missense_Mutation_p.A634T|AGL_ENST00000361302.3_Missense_Mutation_p.A634T|AGL_ENST00000361915.3_Missense_Mutation_p.A650T|AGL_ENST00000370165.3_Missense_Mutation_p.A650T|AGL_ENST00000361522.4_Missense_Mutation_p.A633T|AGL_ENST00000370163.3_Missense_Mutation_p.A650T	p.A650T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	15	2426	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	650					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.1948G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762413	0.69763	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	6.01	6.01	0.97437	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.99;0.99;0.991	D	0.88001	0.2756	10	0.51188	T	0.08	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	633;634;650	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	T	650;650;650;650;634;634;633	ENSP00000355106:A650T;ENSP00000359184:A650T;ENSP00000359182:A650T;ENSP00000294724:A650T;ENSP00000354971:A634T;ENSP00000359180:A634T;ENSP00000354635:A633T	ENSP00000294724:A650T	A	+	1	0	AGL	100119268	1.000000	0.71417	0.999000	0.59377	0.103000	0.19146	7.560000	0.82277	2.850000	0.98022	0.655000	0.94253	GCA		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		25	38	0	0	0	1	0	25	38				
DENND5B	160518	broad.mit.edu	37	12	31545313	31545313	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31545313G>A	ENST00000389082.5	-	19	3618	c.3354C>T	c.(3352-3354)acC>acT	p.T1118T	DENND5B_ENST00000536562.1_Silent_p.T1153T|DENND5B_ENST00000306833.6_Silent_p.T1153T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1118	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGCAACACGGTGAGGCTTC	0.463																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3352-3354)acC>acT		DENN/MADD domain containing 5B							54.0	52.0	52.0					12																	31545313		1917	4119	6036	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31545313G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3354C>T	12.37:g.31545313G>A						DENND5B_ENST00000536562.1_Silent_p.T1153T|DENND5B_ENST00000306833.6_Silent_p.T1153T	p.T1118T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			19	3618	-			1118			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.3354C>T	CCDS44857.1																																																																																				0.463	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		13	19	0	0	0	1	0	13	19				
DNAH3	55567	broad.mit.edu	37	16	21008665	21008665	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21008665C>T	ENST00000261383.3	-	44	6540	c.6541G>A	c.(6541-6543)Gtg>Atg	p.V2181M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2181	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCATGTCCACGATGTCCAGC	0.552																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6541-6543)Gtg>Atg		dynein, axonemal, heavy chain 3							118.0	107.0	111.0					16																	21008665		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21008665C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6541G>A	16.37:g.21008665C>T	ENSP00000261383:p.Val2181Met					DNAH3_ENST00000415178.1_3'UTR	p.V2181M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	44	6540	-			2181			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6541G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166293	0.57476	.	.	ENSG00000158486	ENST00000261383	T	0.35973	1.28	5.23	3.24	0.37175	ATPase, AAA+ type, core (1);	0.328841	0.28706	N	0.014407	T	0.40645	0.1125	M	0.85710	2.77	0.19575	N	0.999969	B	0.27853	0.191	B	0.30572	0.117	T	0.43343	-0.9397	10	0.54805	T	0.06	.	6.4895	0.22107	0.0:0.6466:0.1341:0.2193	.	2181	Q8TD57	DYH3_HUMAN	M	2181	ENSP00000261383:V2181M	ENSP00000261383:V2181M	V	-	1	0	DNAH3	20916166	0.001000	0.12720	0.925000	0.36789	0.962000	0.63368	0.024000	0.13555	1.176000	0.42840	0.650000	0.86243	GTG		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		26	34	0	0	0	1	0	26	34				
TTN	7273	broad.mit.edu	37	2	179449464	179449464	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179449464C>T	ENST00000591111.1	-	260	60205	c.59981G>A	c.(59980-59982)cGt>cAt	p.R19994H	TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21635H|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCAGCACGGACCCGGAA	0.488																																						ENST00000589042.1																			4	Substitution - Missense(4)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64903-64905)cGt>cAt		titin							179.0	178.0	178.0					2																	179449464		1919	4115	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449464C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59981G>A	2.37:g.179449464C>T	ENSP00000465570:p.Arg19994His					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN_ENST00000591111.1_Missense_Mutation_p.R19994H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R21635H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	65128	-			19994			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64904G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665617	0.88251	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78123	0.4234	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79200	-0.1901	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19067;12570;12762;12695;12568	ENSP00000343764:R19067H;ENSP00000434586:R12570H;ENSP00000340554:R12762H;ENSP00000352154:R12695H	ENSP00000340554:R12762H	R	-	2	0	TTN	179157710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.941000	0.99782	0.655000	0.94253	CGT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	90	0	0	0	1	0	73	90				
PKD1L1	168507	broad.mit.edu	37	7	47955197	47955197	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47955197C>A	ENST00000289672.2	-	8	1111		c.e8-1			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						aaaaaaatacctataaaagca	0.274																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.e8-1		polycystic kidney disease 1 like 1							39.0	39.0	39.0					7																	47955197		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47955197C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1061-1G>T	7.37:g.47955197C>A								NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			8	1111	-								Q6UWK1	Splice_Site	SNP	ENST00000289672.2	37		CCDS34633.1																																																																																				0.274	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Intron	7	18	1	0	5.18039e-06	1	5.37127e-06	7	18				
IL36A	27179	broad.mit.edu	37	2	113763657	113763657	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113763657G>A	ENST00000259211.6	+	2	528	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	39					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AGGACCGTATGTCTCCAGGTG	0.522																																						ENST00000259211.6																			0				large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						c.(115-117)atG>atA		interleukin 36, alpha							48.0	52.0	51.0					2																	113763657		2052	4206	6258	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113763657G>A	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.117G>A	2.37:g.113763657G>A	ENSP00000259211:p.Met39Ile						p.M39I	NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN			2	528	+			39					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.117G>A	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212086	0.22289	.	.	ENSG00000136694	ENST00000259211	T	0.15834	2.39	4.69	-0.536	0.11876	.	1.380940	0.04319	N	0.350340	T	0.08313	0.0207	N	0.04746	-0.17	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31861	-0.9928	10	0.35671	T	0.21	25.0497	4.6589	0.12632	0.3576:0.1532:0.4891:0.0	.	39	Q9UHA7	IL36A_HUMAN	I	39	ENSP00000259211:M39I	ENSP00000259211:M39I	M	+	3	0	IL36A	113480128	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.080000	0.11339	-0.216000	0.10048	-0.225000	0.12378	ATG		0.522	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		11	20	0	0	0	1	0	11	20				
SSTR5	6755	broad.mit.edu	37	16	1129348	1129348	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1129348C>T	ENST00000293897.4	+	1	568	c.480C>T	c.(478-480)agC>agT	p.S160S	SSTR5_ENST00000562758.1_Silent_p.S160S|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Silent_p.S160S	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	160					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGCTGGCGAGCGCCGCGGCCT	0.711																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(478-480)agC>agT		somatostatin receptor 5	Octreotide(DB00104)																																			SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129348C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.480C>T	16.37:g.1129348C>T						SSTR5_ENST00000562758.1_Silent_p.S160S|SSTR5_ENST00000397547.2_Silent_p.S160S	p.S160S	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	568	+		Hepatocellular(780;0.00369)	160					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.480C>T	CCDS10429.1																																																																																				0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			8	6	0	0	0	1	0	8	6				
PITPNM1	9600	broad.mit.edu	37	11	67260513	67260513	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67260513G>A	ENST00000534749.1	-	22	3551	c.3363C>T	c.(3361-3363)gcC>gcT	p.A1121A	PITPNM1_ENST00000436757.2_Silent_p.A1120A|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Silent_p.A1121A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1121					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACCCATAACCGGCCACGATGT	0.662																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(3361-3363)gcC>gcT		phosphatidylinositol transfer protein, membrane-associated 1							106.0	114.0	112.0					11																	67260513		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67260513G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3363C>T	11.37:g.67260513G>A						PITPNM1_ENST00000436757.2_Silent_p.A1120A|PITPNM1_ENST00000534749.1_Silent_p.A1121A	p.A1121A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			23	3588	-			1121					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.3363C>T	CCDS31620.1																																																																																				0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		44	78	0	0	0	1	0	44	78				
SVEP1	79987	broad.mit.edu	37	9	113208265	113208265	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113208265C>T	ENST00000401783.2	-	26	4651	c.4315G>A	c.(4315-4317)Gtc>Atc	p.V1439I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V1439I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1416I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1439	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTAGCATGACATATCCATAG	0.433																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4315-4317)Gtc>Atc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							101.0	95.0	97.0					9																	113208265		1922	4139	6061	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208265C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4315G>A	9.37:g.113208265C>T	ENSP00000384917:p.Val1439Ile					SVEP1_ENST00000302728.8_Missense_Mutation_p.V1439I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1416I|SVEP1_ENST00000467821.1_5'UTR	p.V1439I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4651	-			1439			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4315G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519086	0.44866	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.75477	0.19;0.19;-0.94	5.5	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111161	0.64402	N	0.000011	T	0.75693	0.3884	M	0.73598	2.24	0.34461	D	0.701743	B;B	0.23442	0.014;0.085	B;B	0.28916	0.028;0.096	T	0.80736	-0.1249	10	0.52906	T	0.07	.	14.6806	0.69015	0.0:0.9297:0.0:0.0703	.	1439;1439	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	I	1439;1416;1439	ENSP00000384917:V1439I;ENSP00000363593:V1416I;ENSP00000304118:V1439I	ENSP00000304118:V1439I	V	-	1	0	SVEP1	112248086	1.000000	0.71417	0.432000	0.26747	0.253000	0.25986	5.746000	0.68681	1.465000	0.48006	0.655000	0.94253	GTC		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	12	0	0	0	1	0	9	12				
FRMD1	79981	broad.mit.edu	37	6	168461456	168461456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168461456G>A	ENST00000283309.6	-	9	1391	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R214C|FRMD1_ENST00000440994.2_Missense_Mutation_p.R375C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	443						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGTCACCACGTGTGCTGGGG	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1327-1329)Cgt>Tgt		FERM domain containing 1							37.0	35.0	35.0					6																	168461456		2203	4299	6502	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461456G>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1327C>T	6.37:g.168461456G>A	ENSP00000283309:p.Arg443Cys					FRMD1_ENST00000440994.2_Missense_Mutation_p.R375C|FRMD1_ENST00000537786.1_Missense_Mutation_p.R214C|FRMD1_ENST00000432403.1_5'UTR	p.R443C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1391	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	443					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1327C>T	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	6.390	0.440082	0.12104	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.53423	0.62;0.62;0.62	2.36	-1.15	0.09709	.	19.015600	0.01103	N	0.005415	T	0.08044	0.0201	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.09377	0.002;0.002;0.004;0.002	T	0.17198	-1.0377	10	0.51188	T	0.08	.	7.0588	0.25113	0.2587:0.4396:0.3017:0.0	.	378;443;375;338	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	C	443;375;214	ENSP00000283309:R443C;ENSP00000414115:R375C;ENSP00000440078:R214C	ENSP00000283309:R443C	R	-	1	0	FRMD1	168204305	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.055000	0.30467	-0.731000	0.04862	-1.786000	0.00637	CGT		0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		9	18	0	0	0	1	0	9	18				
QPCT	25797	broad.mit.edu	37	2	37599550	37599550	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37599550G>A	ENST00000338415.3	+	6	1033	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	QPCT_ENST00000537448.1_Missense_Mutation_p.R243Q	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	292					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTGGAGGGGCGGTATTTCCAG	0.368																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(874-876)cGg>cAg		glutaminyl-peptide cyclotransferase							195.0	191.0	192.0					2																	37599550		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599550G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.875G>A	2.37:g.37599550G>A	ENSP00000344829:p.Arg292Gln					QPCT_ENST00000537448.1_Missense_Mutation_p.R243Q	p.R292Q	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			6	1033	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	292					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.875G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	3.718	-0.058062	0.07317	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.42	-10.8	0.00216	Peptidase M28 (1);	1.029980	0.07645	N	0.931015	T	0.13713	0.0332	N	0.04373	-0.215	0.09310	N	1	B;B	0.18610	0.029;0.02	B;B	0.04013	0.0;0.001	T	0.23154	-1.0196	10	0.07813	T	0.8	-7.6531	10.1924	0.43035	0.2595:0.4096:0.3309:0.0	.	243;292	Q16769-2;Q16769	.;QPCT_HUMAN	Q	292;243;243;57	ENSP00000344829:R292Q;ENSP00000385391:R243Q;ENSP00000441606:R243Q;ENSP00000389227:R57Q	ENSP00000344829:R292Q	R	+	2	0	QPCT	37453054	0.220000	0.23631	0.001000	0.08648	0.589000	0.36550	-0.170000	0.09897	-2.307000	0.00653	-0.290000	0.09829	CGG		0.368	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			64	96	0	0	0	1	0	64	96				
ATAD3A	55210	broad.mit.edu	37	1	1469346	1469346	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1469346C>T	ENST00000378755.5	+	16	1893	c.1799C>T	c.(1798-1800)gCc>gTc	p.A600V	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A473V|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A552V	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	600					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CTGACCGAGGCCATGATGGAC	0.672																																						ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1798-1800)gCc>gTc		ATPase family, AAA domain containing 3A							46.0	47.0	47.0					1																	1469346		2203	4298	6501	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1469346C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1799C>T	1.37:g.1469346C>T	ENSP00000368030:p.Ala600Val					ATAD3A_ENST00000536055.1_Missense_Mutation_p.A473V|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A552V	p.A600V	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	16	1893	+	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)	600					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1799C>T	CCDS31.1	.	.	.	.	.	.	.	.	.	.	-	13.02	2.112446	0.37242	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055	T;T;T	0.79247	-1.25;-1.25;-1.25	4.0	3.06	0.35304	.	0.000000	0.85682	U	0.000000	T	0.69557	0.3124	M	0.69185	2.1	0.58432	D	0.999998	P;B	0.40794	0.729;0.042	B;B	0.33846	0.171;0.075	T	0.69877	-0.5026	10	0.31617	T	0.26	.	10.3958	0.44201	0.0:0.9016:0.0:0.0984	.	552;600	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	V	552;600;229;473	ENSP00000368031:A552V;ENSP00000368030:A600V;ENSP00000439290:A473V	ENSP00000368030:A600V	A	+	2	0	ATAD3A	1459209	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.474000	0.60203	1.964000	0.57103	0.478000	0.44815	GCC		0.672	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		22	31	0	0	0	1	0	22	31				
USP29	57663	broad.mit.edu	37	19	57640482	57640482	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57640482C>T	ENST00000254181.4	+	4	893	c.439C>T	c.(439-441)Cct>Tct	p.P147S	USP29_ENST00000598197.1_Missense_Mutation_p.P147S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	147					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGAAGATGCCTTTGTTTAT	0.363																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(439-441)Cct>Tct		ubiquitin specific peptidase 29							81.0	76.0	78.0					19																	57640482		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640482C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.439C>T	19.37:g.57640482C>T	ENSP00000254181:p.Pro147Ser					USP29_ENST00000598197.1_Missense_Mutation_p.P147S	p.P147S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	893	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	147						Missense_Mutation	SNP	ENST00000254181.4	37	c.439C>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658628	0.29515	.	.	ENSG00000131864	ENST00000254181	T	0.56611	0.45	2.53	1.48	0.22813	.	1.055250	0.07639	U	0.930035	T	0.56717	0.2004	L	0.54323	1.7	0.09310	N	1	D	0.62365	0.991	P	0.54210	0.745	T	0.44697	-0.9311	10	0.66056	D	0.02	-3.9695	4.979	0.14155	0.0:0.8264:0.0:0.1736	.	147	Q9HBJ7	UBP29_HUMAN	S	147	ENSP00000254181:P147S	ENSP00000254181:P147S	P	+	1	0	USP29	62332294	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	-0.110000	0.10824	0.590000	0.29694	0.591000	0.81541	CCT		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			20	33	0	0	0	1	0	20	33				
ALDH1A2	8854	broad.mit.edu	37	15	58287286	58287286	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58287286T>C	ENST00000249750.4	-	5	1312	c.545A>G	c.(544-546)cAg>cGg	p.Q182R	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q86R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q161R|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q153R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q182R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	182					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TGGGATGATCTGTCCACACAC	0.393																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(544-546)cAg>cGg		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						164.0	155.0	158.0					15																	58287286		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58287286T>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.545A>G	15.37:g.58287286T>C	ENSP00000249750:p.Gln182Arg					ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q153R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q161R|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q182R|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q86R	p.Q182R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	5	1312	-			182					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.545A>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077783	0.76528	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.78049	2.395	0.54753	D	0.999985	D;D;D;D	0.63880	0.993;0.991;0.99;0.989	D;P;P;D	0.65874	0.925;0.877;0.844;0.939	T	0.40079	-0.9582	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	153;161;182;182	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	R	182;86;153;182;161	ENSP00000249750:Q182R;ENSP00000309623:Q182R;ENSP00000438296:Q161R	ENSP00000249750:Q182R	Q	-	2	0	ALDH1A2	56074578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.720000	0.68470	2.371000	0.80710	0.533000	0.62120	CAG		0.393	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			36	51	0	0	0	1	0	36	51				
ZDHHC16	84287	broad.mit.edu	37	10	99211512	99211512	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99211512G>A	ENST00000370854.3	+	2	269	c.80G>A	c.(79-81)cGc>cAc	p.R27H	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27H|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27H	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	27					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TACAGGCGCCGCTGTCCACCT	0.667																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(79-81)cGc>cAc		zinc finger, DHHC-type containing 16							37.0	40.0	39.0					10																	99211512		2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99211512G>A	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.80G>A	10.37:g.99211512G>A	ENSP00000359891:p.Arg27His					ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27H|ZDHHC16_ENST00000495735.1_3'UTR	p.R27H	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	3	429	+		Colorectal(252;0.0846)	27					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.80G>A	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.513036|4.513036	0.85389|0.85389	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089|ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	.|T;T;T;T;T;T;T;T;T	.|0.20332	.|2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.112641	.|0.64402	.|D	.|0.000014	T|T	0.28200|0.28200	0.0696|0.0696	N|N	0.04959|0.04959	-0.14|-0.14	0.41952|0.41952	D|D	0.990668|0.990668	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.996;0.999;1.0;0.999;0.998	.|D;D;P;P;D;D;D;D	.|0.85130	.|0.964;0.992;0.858;0.586;0.984;0.997;0.984;0.976	T|T	0.42155|0.42155	-0.9468|-0.9468	5|10	.|0.66056	.|D	.|0.02	0.2961|0.2961	17.755|17.755	0.88446|0.88446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|27;27;27;2;27;27;27;27	.|B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.|.;.;.;.;.;.;.;ZDH16_HUMAN	T|H	3|27	.|ENSP00000359891:R27H;ENSP00000377357:R27H;ENSP00000400719:R27H;ENSP00000359883:R27H;ENSP00000345383:R27H;ENSP00000323360:R27H;ENSP00000359879:R27H;ENSP00000304487:R27H;ENSP00000398532:R27H	.|ENSP00000304487:R27H	A|R	+|+	1|2	0|0	ZDHHC16|ZDHHC16	99201502|99201502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.797000|6.797000	0.75150|0.75150	2.641000|2.641000	0.89580|0.89580	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.667	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		21	21	0	0	0	1	0	21	21				
ANKRD44	91526	broad.mit.edu	37	2	197878290	197878290	+	Silent	SNP	G	G	A	rs200094490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197878290G>A	ENST00000328737.2	-	18	1870	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	ANKRD44_ENST00000282272.8_Silent_p.G615G|ANKRD44_ENST00000337207.5_Silent_p.G598G|ANKRD44_ENST00000450567.1_Silent_p.G598G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	623										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGATGGATGCGCCCTGATTGA	0.493																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1792-1794)ggC>ggT		ankyrin repeat domain 44		G		0,4406		0,0,2203	213.0	200.0	205.0		1869	-4.3	0.7	2		205	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANKRD44	NM_001195144.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		623/994	197878290	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197878290G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1794C>T	2.37:g.197878290G>A						ANKRD44_ENST00000450567.1_Silent_p.G598G|ANKRD44_ENST00000337207.5_Silent_p.G598G|ANKRD44_ENST00000282272.8_Silent_p.G615G	p.G598G			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1870	-			623					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1794C>T																																																																																					0.493	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		59	70	0	0	0	1	0	59	70				
SLC9B2	133308	broad.mit.edu	37	4	103947622	103947622	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103947622G>A	ENST00000394785.3	-	12	2150	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	SLC9B2_ENST00000503103.1_Missense_Mutation_p.S404F|SLC9B2_ENST00000362026.3_Silent_p.L507L|SLC9B2_ENST00000503230.1_Silent_p.L450L|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	507					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCAATAAGCAGACTTCCAATT	0.433																																						ENST00000503103.1																			0											c.(1210-1212)tCt>tTt		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							117.0	116.0	116.0					4																	103947622		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947622G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1519C>T	4.37:g.103947622G>A						SLC9B2_ENST00000362026.3_Silent_p.L507L|SLC9B2_ENST00000394785.3_Silent_p.L507L|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Silent_p.L450L	p.S404F			Q86UD5	NHDC2_HUMAN			10	1401	-			0					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1211C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213379	0.58452	.	.	ENSG00000164038	ENST00000503103	T	0.26660	1.72	5.13	5.13	0.70059	.	.	.	.	.	T	0.30135	0.0755	.	.	.	0.80722	D	1	P	0.42409	0.779	B	0.42462	0.388	T	0.08576	-1.0715	8	0.87932	D	0	-9.0368	13.9389	0.64043	0.0758:0.0:0.9242:0.0	.	404	B7Z676	.	F	404	ENSP00000425385:S404F	ENSP00000425385:S404F	S	-	2	0	SLC9B2	104167071	1.000000	0.71417	0.939000	0.37840	0.983000	0.72400	2.702000	0.47102	2.356000	0.79943	0.585000	0.79938	TCT		0.433	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		30	53	0	0	0	1	0	30	53				
FLG2	388698	broad.mit.edu	37	1	152326915	152326915	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152326915C>T	ENST00000388718.5	-	3	3419	c.3347G>A	c.(3346-3348)gGc>gAc	p.G1116D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1116	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATATTGGCCAAAGCCAGA	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3346-3348)gGc>gAc		filaggrin family member 2							235.0	240.0	238.0					1																	152326915		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326915C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3347G>A	1.37:g.152326915C>T	ENSP00000373370:p.Gly1116Asp					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1116D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3419	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1116			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3347G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215466	0.22373	.	.	ENSG00000143520	ENST00000388718	T	0.24908	1.83	4.78	2.8	0.32819	.	.	.	.	.	T	0.06781	0.0173	L	0.43152	1.355	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.35699	-0.9778	9	0.16420	T	0.52	.	7.3026	0.26430	0.0:0.7753:0.0:0.2247	.	1116	Q5D862	FILA2_HUMAN	D	1116	ENSP00000373370:G1116D	ENSP00000373370:G1116D	G	-	2	0	FLG2	150593539	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.292000	0.08332	0.946000	0.37632	0.558000	0.71614	GGC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		89	165	0	0	0	1	0	89	165				
SNHG24	101929369	broad.mit.edu	37	14	101435337	101435337	+	lincRNA	SNP	G	G	A	rs376688146		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:101435337G>A	ENST00000554693.2	+	0	212				SNORD114-11_ENST00000363738.1_RNA|SNORD114-13_ENST00000364377.1_RNA|SNORD114-12_ENST00000365400.1_RNA|SNORD114-9_ENST00000364370.1_RNA|SNORD114-10_ENST00000363409.1_RNA																							TGAATAATACGTGTCTGGAAC	0.363													g|||	1	0.000199681	0.0	0.0	5008	,	,		15778	0.001		0.0	False		,,,				2504	0.0					ENST00000554693.2																			0																				102.0	101.0	101.0					14																	101435337		876	1991	2867			0							g.chr14:101435337G>A																													14.37:g.101435337G>A						SNORD114-12_ENST00000365400.1_RNA								0	212	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.363	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			8	50	0	0	0	1	0	8	50				
CNBP	7555	broad.mit.edu	37	3	128890476	128890476	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128890476C>A	ENST00000422453.2	-	2	285		c.e2+1		CNBP_ENST00000502976.1_Intron|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000446936.2_Intron|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000500450.2_Intron	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|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)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CGACAAAATACCTCTATCCGA	0.468																																						ENST00000422453.2																			0				biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						c.e2+1		CCHC-type zinc finger, nucleic acid binding protein							56.0	56.0	56.0					3																	128890476		2203	4300	6503	SO:0001630	splice_region_variant	7555				cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:128890476C>A	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.124+1G>T	3.37:g.128890476C>A						CNBP_ENST00000500450.2_Intron|CNBP_ENST00000502976.1_Intron|CNBP_ENST00000451728.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000446936.2_Intron		NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN			2	285	-								A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Splice_Site	SNP	ENST00000422453.2	37		CCDS3056.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764614	0.69878	.	.	ENSG00000169714	ENST00000422453;ENST00000451728;ENST00000504813;ENST00000441626	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1659	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNBP	130373166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.116000	0.31221	2.894000	0.99253	0.591000	0.81541	.		0.468	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418	Intron	5	37	1	0	0.014758	1	0.0148771	5	37				
AMPD2	271	broad.mit.edu	37	1	110170723	110170723	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110170723G>A	ENST00000256578.3	+	10	1621	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	AMPD2_ENST00000528454.1_Missense_Mutation_p.A303T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A340T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.A421T|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.A302T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A346T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	421					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCACATCCATGCCTCGTCCTG	0.607																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1261-1263)Gcc>Acc		adenosine monophosphate deaminase 2							68.0	63.0	65.0					1																	110170723		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170723G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1261G>A	1.37:g.110170723G>A	ENSP00000256578:p.Ala421Thr					AMPD2_ENST00000358729.4_Missense_Mutation_p.A346T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A302T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A340T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A421T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A303T|AMPD2_ENST00000526301.1_3'UTR	p.A421T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1621	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	421					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1261G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.236315|5.236315	0.95240|0.95240	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.92911|.	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Adenosine/AMP deaminase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	0.996;1.0;0.786;1.0|.	D;D;P;D|.	0.80764|.	0.99;0.994;0.823;0.994|.	T|T	0.72104|0.72104	-0.4391|-0.4391	10|5	0.25106|.	T|.	0.35|.	-27.1791|-27.1791	17.3138|17.3138	0.87217|0.87217	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346;302;421;340|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|Y	340;421;421;346;303;302|391	ENSP00000345498:A340T;ENSP00000436541:A421T;ENSP00000256578:A421T;ENSP00000351573:A346T;ENSP00000437164:A303T;ENSP00000377292:A302T|.	ENSP00000256578:A421T|.	A|C	+|+	1|2	0|0	AMPD2|AMPD2	109972246|109972246	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.985000|0.985000	0.73830|0.73830	9.559000|9.559000	0.98135|0.98135	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.607	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			7	7	0	0	0	1	0	7	7				
FAM160B1	57700	broad.mit.edu	37	10	116621019	116621019	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116621019G>T	ENST00000369248.4	+	16	2453	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q706H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	706										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTCGAATCCAGCGTATTCAAG	0.418																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(2116-2118)caG>caT		family with sequence similarity 160, member B1							146.0	128.0	134.0					10																	116621019		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116621019G>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2118G>T	10.37:g.116621019G>T	ENSP00000358251:p.Gln706His					FAM160B1_ENST00000369250.3_Missense_Mutation_p.Q706H	p.Q706H	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			16	2453	+			706					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.2118G>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583807	0.65992	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000411414	T;T;T	0.53206	0.63;0.63;0.63	5.56	3.69	0.42338	.	0.050279	0.85682	D	0.000000	T	0.38639	0.1048	L	0.34521	1.04	0.80722	D	1	B;B	0.24258	0.1;0.008	B;B	0.31547	0.132;0.006	T	0.32428	-0.9907	10	0.52906	T	0.07	-18.2468	10.6975	0.45907	0.2074:0.0:0.7926:0.0	.	706;706	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	H	706;706;43	ENSP00000358251:Q706H;ENSP00000358253:Q706H;ENSP00000411924:Q43H	ENSP00000358251:Q706H	Q	+	3	2	FAM160B1	116611009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.571000	0.45990	1.352000	0.45808	0.591000	0.81541	CAG		0.418	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		18	43	1	0	0.204396	1	0.204795	18	43				
RAPH1	65059	broad.mit.edu	37	2	204304354	204304354	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204304354G>A	ENST00000319170.5	-	14	3858	c.3559C>T	c.(3559-3561)Cgc>Tgc	p.R1187C	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1239C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1187					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGACATGCGGGAGGAGAGT	0.562																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3559-3561)Cgc>Tgc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							118.0	107.0	111.0					2																	204304354		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304354G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3559C>T	2.37:g.204304354G>A	ENSP00000316543:p.Arg1187Cys					RAPH1_ENST00000374493.3_Missense_Mutation_p.R1239C|RAPH1_ENST00000457812.1_Intron	p.R1187C	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3858	-			1187					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3559C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853584	0.32791	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.50548	0.74;0.74	5.18	5.18	0.71444	.	0.439260	0.16868	U	0.196247	T	0.54935	0.1889	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.59637	-0.7417	10	0.72032	D	0.01	-6.8817	18.6811	0.91546	0.0:0.0:1.0:0.0	.	1187	Q70E73	RAPH1_HUMAN	C	1187;1239	ENSP00000316543:R1187C;ENSP00000363617:R1239C	ENSP00000316543:R1187C	R	-	1	0	RAPH1	204012599	0.999000	0.42202	0.333000	0.25482	0.305000	0.27757	4.018000	0.57174	2.405000	0.81733	0.563000	0.77884	CGC		0.562	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		16	22	0	0	0	1	0	16	22				
NLRP3	114548	broad.mit.edu	37	1	247587868	247587868	+	Missense_Mutation	SNP	G	G	A	rs61841179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247587868G>A	ENST00000336119.3	+	3	1869	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NLRP3_ENST00000391827.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366497.2_Missense_Mutation_p.E375K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E375K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E375K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	375	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGTTTCTCCGAGGCCAAAAG	0.552																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1123-1125)Gag>Aag		NLR family, pyrin domain containing 3							62.0	62.0	62.0					1																	247587868		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587868G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1123G>A	1.37:g.247587868G>A	ENSP00000337383:p.Glu375Lys					NLRP3_ENST00000391828.3_Missense_Mutation_p.E375K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E375K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E375K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E375K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E375K	p.E375K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1903	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	375			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1123G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762499	0.49574	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.52532	D	0.000070	D	0.87374	0.6161	M	0.75150	2.29	0.36523	D	0.870285	D;D;D;D;P	0.89917	0.981;0.997;1.0;0.972;0.951	P;D;D;P;P	0.70227	0.824;0.915;0.968;0.782;0.752	D	0.89673	0.3885	10	0.54805	T	0.06	.	11.5521	0.50726	0.0:0.0:1.0:0.0	rs61841179	375;375;375;375;375	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	375	ENSP00000375704:E375K;ENSP00000355453:E375K;ENSP00000337383:E375K;ENSP00000294752:E375K;ENSP00000355452:E375K;ENSP00000375703:E375K	ENSP00000337383:E375K	E	+	1	0	NLRP3	245654491	0.896000	0.30565	0.329000	0.25429	0.296000	0.27459	2.102000	0.41796	2.436000	0.82500	0.563000	0.77884	GAG		0.552	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	45	0	0	0	1	0	17	45				
CACNB2	783	broad.mit.edu	37	10	18439868	18439868	+	Silent	SNP	G	G	A	rs372915981		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18439868G>A	ENST00000324631.7	+	2	237	c.177G>A	c.(175-177)acG>acA	p.T59T	CACNB2_ENST00000282343.8_Silent_p.T31T|CACNB2_ENST00000352115.6_Silent_p.T59T|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377331.2_Silent_p.T31T|CACNB2_ENST00000377328.1_Silent_p.T59T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	59					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGGAAGCACGTCATCTGATA	0.294																																						ENST00000282343.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(91-93)acG>acA		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	133.0	142.0	139.0		93,93,93,177,177,177	-11.9	0.0	10		139	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNB2	NM_001167945.1,NM_201571.3,NM_201572.3,NM_201593.2,NM_201596.2,NM_201597.2	,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	31/595,31/633,31/609,59/623,59/661,59/637	18439868	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18439868G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.177G>A	10.37:g.18439868G>A						CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377331.2_Silent_p.T31T|CACNB2_ENST00000352115.6_Silent_p.T59T|CACNB2_ENST00000324631.7_Silent_p.T59T|CACNB2_ENST00000377328.1_Silent_p.T59T	p.T31T	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN			2	315	+			59					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.93G>A	CCDS7125.1																																																																																				0.294	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		32	83	0	0	0	1	0	32	83				
EMX2	2018	broad.mit.edu	37	10	119305160	119305160	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119305160G>A	ENST00000553456.3	+	2	1248	c.424G>A	c.(424-426)Gag>Aag	p.E142K	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	142					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACTAGCCCCGAGAGTTTCCT	0.642																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(424-426)Gag>Aag		empty spiracles homeobox 2							62.0	53.0	56.0					10																	119305160		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305160G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.424G>A	10.37:g.119305160G>A	ENSP00000450962:p.Glu142Lys					EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	p.E142K	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1248	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	142					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.424G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564181	0.86335	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.77	5.77	0.91146	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	L	0.52573	1.65	0.80722	D	1	P	0.35527	0.507	B	0.27380	0.079	T	0.48790	-0.9004	9	0.27082	T	0.32	-14.8166	19.9805	0.97323	0.0:0.0:1.0:0.0	.	142	Q04743	EMX2_HUMAN	K	142	.	ENSP00000358202:E142K	E	+	1	0	EMX2	119295150	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.869000	0.99810	2.726000	0.93360	0.549000	0.68633	GAG		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		7	20	0	0	0	1	0	7	20				
FBN3	84467	broad.mit.edu	37	19	8152025	8152025	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:8152025A>G	ENST00000600128.1	-	54	7104	c.6690T>C	c.(6688-6690)ggT>ggC	p.G2230G	FBN3_ENST00000270509.2_Silent_p.G2230G|FBN3_ENST00000601739.1_Silent_p.G2230G			Q75N90	FBN3_HUMAN	fibrillin 3	2230	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACGCGAAGGTACCGATGAGGT	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6688-6690)ggT>ggC		fibrillin 3							98.0	86.0	90.0					19																	8152025		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152025A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6690T>C	19.37:g.8152025A>G						FBN3_ENST00000270509.2_Silent_p.G2230G|FBN3_ENST00000601739.1_Silent_p.G2230G	p.G2230G			Q75N90	FBN3_HUMAN			54	7104	-			2230			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.6690T>C	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	43	0	0	0	1	0	16	43				
ATAD3B	83858	broad.mit.edu	37	1	1421968	1421968	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1421968C>T	ENST00000308647.7	+	11	1250	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	378						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			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)		TCATGACAGGCGGGGACGTGG	0.617																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1132-1134)ggC>ggT		ATPase family, AAA domain containing 3B							30.0	29.0	30.0					1																	1421968		2183	4253	6436	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421968C>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.1134C>T	1.37:g.1421968C>T							p.G378G	NM_031921.4	NP_114127.3	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)	11	1250	+	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)	378					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1134C>T	CCDS30.1																																																																																				0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		6	20	0	0	0	1	0	6	20				
FRK	2444	broad.mit.edu	37	6	116263644	116263644	+	Missense_Mutation	SNP	C	C	T	rs141525046	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116263644C>T	ENST00000606080.1	-	8	1897	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	FRK_ENST00000538210.1_Missense_Mutation_p.R342H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AAGTTTCCAACGCAGTGTCTC	0.388													c|||	5	0.000998403	0.0	0.0014	5008	,	,		20780	0.0		0.004	False		,,,				2504	0.0					ENST00000606080.1																			1	Substitution - Missense(1)	p.R484L(1)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1450-1452)cGt>cAt		fyn-related kinase		C	HIS/ARG	0,4406		0,0,2203	137.0	132.0	134.0		1451	1.8	0.1	6	dbSNP_134	134	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FRK	NM_002031.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	484/506	116263644	4,13002	2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263644C>T	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1451G>A	6.37:g.116263644C>T	ENSP00000476145:p.Arg484His					FRK_ENST00000538210.1_Missense_Mutation_p.R342H	p.R484H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1897	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	484			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1451G>A	CCDS5103.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	c	5.636	0.301940	0.10678	0.0	4.65E-4	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.34667	1.35;1.35	5.59	1.83	0.25207	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.644681	0.14692	N	0.304140	T	0.10637	0.0260	L	0.41492	1.28	0.23249	N	0.998042	B	0.02656	0.0	B	0.01281	0.0	T	0.29701	-1.0003	10	0.41790	T	0.15	.	6.2639	0.20915	0.1184:0.1318:0.0:0.7498	.	484	P42685	FRK_HUMAN	H	484;342	ENSP00000357615:R484H;ENSP00000443075:R342H	ENSP00000357615:R484H	R	-	2	0	FRK	116370337	0.905000	0.30787	0.114000	0.21550	0.181000	0.23173	1.393000	0.34497	0.074000	0.16767	-0.374000	0.07098	CGT		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		22	40	0	0	0	1	0	22	40				
CDHR2	54825	broad.mit.edu	37	5	176008535	176008535	+	Silent	SNP	C	C	T	rs139851773		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176008535C>T	ENST00000510636.1	+	17	2284	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	CDHR2_ENST00000261944.5_Silent_p.C670C|CDHR2_ENST00000506348.1_Silent_p.C670C	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGTCTGACTGCGGCGAGCCTG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17505	0.0		0.0	False		,,,				2504	0.0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2008-2010)tgC>tgT		cadherin-related family member 2		C	,	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	50.0		2010,2010	-9.2	0.0	5	dbSNP_134	50	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	670/1311,670/1311	176008535	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008535C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2010C>T	5.37:g.176008535C>T						CDHR2_ENST00000506348.1_Silent_p.C670C|CDHR2_ENST00000261944.5_Silent_p.C670C	p.C670C	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			17	2284	+			670			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2010C>T	CCDS34297.1																																																																																				0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		12	25	0	0	0	1	0	12	25				
SYN3	8224	broad.mit.edu	37	22	33402644	33402644	+	Missense_Mutation	SNP	T	T	C	rs369941129		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:33402644T>C	ENST00000358763.2	-	2	246	c.4A>G	c.(4-6)Aat>Gat	p.N2D	SYN3_ENST00000332840.5_Missense_Mutation_p.N2D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	2	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGAGGAAATTCATGGCTGTG	0.572											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(4-6)Aat>Gat		synapsin III		T	ASP/ASN,ASP/ASN,ASP/ASN	0,4406		0,0,2203	69.0	72.0	71.0		4,4,4	4.7	1.0	22		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	23,23,23	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	2/580,2/581,2/445	33402644	1,13005	2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402644T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.4A>G	22.37:g.33402644T>C	ENSP00000351614:p.Asn2Asp		OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	839	SYN3_ENST00000332840.5_Missense_Mutation_p.N2D	p.N2D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			2	246	-			2			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.4A>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.862351	0.91511	0.0	1.16E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.64404	1.975	0.52501	D	0.999956	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.79108	0.992;0.992;0.992	T	0.65705	-0.6103	10	0.87932	D	0	-5.8986	14.4949	0.67680	0.0:0.0:0.0:1.0	.	2;2;2	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	D	2	ENSP00000351614:N2D;ENSP00000330219:N2D	ENSP00000330219:N2D	N	-	1	0	SYN3	31732644	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.883000	0.87264	1.883000	0.54544	0.374000	0.22700	AAT		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			24	34	0	0	0	1	0	24	34				
PIFO	128344	broad.mit.edu	37	1	111889622	111889622	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111889622T>C	ENST00000369738.4	+	2	475	c.110T>C	c.(109-111)gTc>gCc	p.V37A	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.V37A	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	37					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										AACAAGTTTGTCCCTCTTAGG	0.473																																						ENST00000369738.4																			0											c.(109-111)gTc>gCc		primary cilia formation							84.0	80.0	81.0					1																	111889622		2203	4300	6503	SO:0001583	missense	128344							g.chr1:111889622T>C	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.110T>C	1.37:g.111889622T>C	ENSP00000358753:p.Val37Ala					PIFO_ENST00000369737.4_Missense_Mutation_p.V37A|PIFO_ENST00000484512.1_3'UTR	p.V37A	NM_181643.4	NP_857594.2					2	475	+								D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	c.110T>C	CCDS833.1	.	.	.	.	.	.	.	.	.	.	T	6.725	0.502467	0.12822	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.24908	1.83;1.83	5.1	2.8	0.32819	.	0.572940	0.16433	N	0.214647	T	0.05410	0.0143	N	0.21194	0.64	0.21147	N	0.999776	P;B;B	0.42871	0.792;0.372;0.372	B;B;B	0.40864	0.342;0.121;0.121	T	0.27872	-1.0061	10	0.18710	T	0.47	-1.4664	6.523	0.22285	0.0:0.1885:0.0:0.8115	.	37;37;37	Q8TCI5-2;Q8TCI5-3;Q8TCI5	.;.;PIFO_HUMAN	A	37	ENSP00000358753:V37A;ENSP00000358752:V37A	ENSP00000358752:V37A	V	+	2	0	C1orf88	111691145	0.557000	0.26546	0.992000	0.48379	0.870000	0.49936	0.960000	0.29253	0.423000	0.26033	0.459000	0.35465	GTC		0.473	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		18	31	0	0	0	1	0	18	31				
EDEM3	80267	broad.mit.edu	37	1	184695464	184695464	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184695464G>T	ENST00000318130.8	-	7	938	c.672C>A	c.(670-672)acC>acA	p.T224T	EDEM3_ENST00000367512.3_Silent_p.T181T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	224					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGCTGTACAGGTATCTGTCT	0.373																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(670-672)acC>acA		ER degradation enhancer, mannosidase alpha-like 3							103.0	101.0	102.0					1																	184695464		2203	4300	6503	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184695464G>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.672C>A	1.37:g.184695464G>T						EDEM3_ENST00000367512.3_Silent_p.T181T	p.T224T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			7	938	-			224					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.672C>A	CCDS1363.2																																																																																				0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		31	46	1	0	3.1745e-13	1	3.44526e-13	31	46				
ITPR2	3709	broad.mit.edu	37	12	26551961	26551961	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26551961G>T	ENST00000381340.3	-	54	7960	c.7544C>A	c.(7543-7545)gCt>gAt	p.A2515D	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2515					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACTCGGGCAGCAAACAAGGG	0.328																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7543-7545)gCt>gAt		inositol 1,4,5-trisphosphate receptor, type 2							38.0	33.0	35.0					12																	26551961		1802	4069	5871	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26551961G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7544C>A	12.37:g.26551961G>T	ENSP00000370744:p.Ala2515Asp					RP11-513G19.1_ENST00000535324.1_RNA	p.A2515D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			54	7960	-	Colorectal(261;0.0847)		2515					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7544C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125453	0.77436	.	.	ENSG00000123104	ENST00000381340	D	0.98437	-4.93	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.99764	1.1022	10	0.66056	D	0.02	.	18.4021	0.90520	0.0:0.0:1.0:0.0	.	2515	Q14571	ITPR2_HUMAN	D	2515	ENSP00000370744:A2515D	ENSP00000370744:A2515D	A	-	2	0	ITPR2	26443228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.732000	0.84908	2.567000	0.86603	0.603000	0.83216	GCT		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		16	19	1	0	3.41278e-10	1	3.64137e-10	16	19				
OR5C1	392391	broad.mit.edu	37	9	125551311	125551311	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125551311A>G	ENST00000373680.2	+	1	162	c.100A>G	c.(100-102)Acc>Gcc	p.T34A		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCTCTTCCTGACCTGCCTGCC	0.607																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(100-102)Acc>Gcc		olfactory receptor, family 5, subfamily C, member 1							99.0	92.0	94.0					9																	125551311		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551311A>G	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.100A>G	9.37:g.125551311A>G	ENSP00000362784:p.Thr34Ala						p.T34A	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	162	+			34					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.100A>G	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950199	0.34377	.	.	ENSG00000148215	ENST00000373680	T	0.02944	4.1	5.29	-2.62	0.06152	.	0.684052	0.11890	U	0.519690	T	0.01592	0.0051	N	0.05031	-0.125	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.44544	-0.9321	10	0.59425	D	0.04	.	8.8888	0.35420	0.3709:0.1248:0.5044:0.0	.	34	Q8NGR4	OR5C1_HUMAN	A	34	ENSP00000362784:T34A	ENSP00000362784:T34A	T	+	1	0	OR5C1	124591132	0.000000	0.05858	0.923000	0.36655	0.830000	0.47004	-2.434000	0.01021	-0.345000	0.08325	0.528000	0.53228	ACC		0.607	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			19	25	0	0	0	1	0	19	25				
PCDHB2	56133	broad.mit.edu	37	5	140475094	140475094	+	Silent	SNP	C	C	T	rs112071111		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140475094C>T	ENST00000194155.4	+	1	868	c.720C>T	c.(718-720)aaC>aaT	p.N240N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCAGAGT	0.567																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(718-720)aaC>aaT									55.0	57.0	56.0					5																	140475094		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475094C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.720C>T	5.37:g.140475094C>T							p.N240N	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	868	+			240			Cadherin 2.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.720C>T	CCDS4244.1																																																																																				0.567	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		14	27	0	0	0	1	0	14	27				
BAK1	578	broad.mit.edu	37	6	33543083	33543083	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33543083A>G	ENST00000374467.3	-	4	590	c.342T>C	c.(340-342)atT>atC	p.I114I	BAK1_ENST00000360661.5_Silent_p.I114I|BAK1_ENST00000442998.2_Silent_p.I114I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	114					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						ACCTGGTGGCAATCTTGGTGA	0.567																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(340-342)atT>atC		BCL2-antagonist/killer 1							170.0	133.0	145.0					6																	33543083		2203	4300	6503	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543083A>G	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.342T>C	6.37:g.33543083A>G						BAK1_ENST00000360661.5_Silent_p.I114I|BAK1_ENST00000442998.2_Silent_p.I114I	p.I114I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	590	-			114					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.342T>C	CCDS4781.1																																																																																				0.567	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		12	19	0	0	0	1	0	12	19				
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6142-6144)tcC>tcT		death inducer-obliterator 1							36.0	44.0	41.0					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	20.37:g.61511164G>A						DIDO1_ENST00000395343.1_Silent_p.S2048S	p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6469	-	Breast(26;5.68e-08)		2048					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6144C>T	CCDS33506.1																																																																																				0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		34	50	0	0	0	1	0	34	50				
DKK3	27122	broad.mit.edu	37	11	12029974	12029974	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:12029974G>A	ENST00000396505.2	-	2	394	c.156C>T	c.(154-156)cgC>cgT	p.R52R	DKK3_ENST00000326932.4_Silent_p.R52R|DKK3_ENST00000525493.1_Silent_p.R52R|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000450094.2_Silent_p.R52R	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	52					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CCTCAACCTCGCGGAACATCT	0.697																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(154-156)cgC>cgT		dickkopf WNT signaling pathway inhibitor 3							45.0	44.0	44.0					11																	12029974		2201	4294	6495	SO:0001819	synonymous_variant	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12029974G>A	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.156C>T	11.37:g.12029974G>A						DKK3_ENST00000450094.2_Silent_p.R52R|DKK3_ENST00000326932.4_Silent_p.R52R|DKK3_ENST00000525493.1_Silent_p.R52R|DKK3_ENST00000527132.1_5'UTR	p.R52R	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	2	394	-			52					A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	c.156C>T	CCDS7808.1																																																																																				0.697	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		9	13	0	0	0	1	0	9	13				
BBS12	166379	broad.mit.edu	37	4	123664110	123664110	+	Nonsense_Mutation	SNP	C	C	T	rs121918327		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123664110C>T	ENST00000314218.3	+	2	1256	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	BBS12_ENST00000542236.1_Nonsense_Mutation_p.R355*	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	355			R -> Q (in BBS12). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCAGCCTGTGCGAATAGTTCT	0.403									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21	GRCh37	CM070035	BBS12	M	rs121918327	c.(1063-1065)Cga>Tga		Bardet-Biedl syndrome 12							75.0	69.0	71.0					4																	123664110		2203	4300	6503	SO:0001587	stop_gained	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664110C>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1063C>T	4.37:g.123664110C>T	ENSP00000319062:p.Arg355*					BBS12_ENST00000314218.3_Nonsense_Mutation_p.R355*	p.R355*	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	1444	+			355					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Nonsense_Mutation	SNP	ENST00000314218.3	37	c.1063C>T	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612421	0.87258	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	.	.	.	5.68	3.87	0.44632	.	0.328714	0.30519	N	0.009448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5893	5.7827	0.18316	0.2476:0.5653:0.1203:0.0668	.	.	.	.	X	355	.	ENSP00000319062:R355X	R	+	1	2	BBS12	123883560	0.998000	0.40836	0.006000	0.13384	0.053000	0.15095	2.134000	0.42102	1.367000	0.46095	0.650000	0.86243	CGA		0.403	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		21	27	0	0	0	1	0	21	27				
IL12RB1	3594	broad.mit.edu	37	19	18193064	18193064	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18193064C>T	ENST00000600835.2	-	4	433	c.135G>A	c.(133-135)tcG>tcA	p.S45S	IL12RB1_ENST00000322153.7_Silent_p.S45S|IL12RB1_ENST00000593993.2_Silent_p.S45S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	45					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCTAGGGCCCGAGGCCGAGC	0.552																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(133-135)tcG>tcA		interleukin 12 receptor, beta 1							61.0	53.0	56.0					19																	18193064		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18193064C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.135G>A	19.37:g.18193064C>T						IL12RB1_ENST00000322153.6_Silent_p.S45S|IL12RB1_ENST00000593993.1_Silent_p.S45S|IL12RB1_ENST00000430026.2_Silent_p.S45S	p.S45S			P42701	I12R1_HUMAN			4	438	-			45			Fibronectin type-III 1.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.135G>A	CCDS54232.1																																																																																				0.552	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			3	9	0	0	0	1	0	3	9				
RPAP1	26015	broad.mit.edu	37	15	41819399	41819399	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41819399C>T	ENST00000304330.4	-	13	1828	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R571H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	571						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCGGGCCAGGCGGATGAGCAC	0.617																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1711-1713)cGc>cAc		RNA polymerase II associated protein 1							54.0	53.0	54.0					15																	41819399		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819399C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1712G>A	15.37:g.41819399C>T	ENSP00000306123:p.Arg571His					RPAP1_ENST00000561603.1_Missense_Mutation_p.R571H	p.R571H	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	13	1828	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	571					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1712G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036860	0.54896	.	.	ENSG00000103932	ENST00000304330	T	0.16073	2.37	5.1	5.1	0.69264	.	0.231474	0.45126	D	0.000384	T	0.13884	0.0336	L	0.42008	1.315	0.53688	D	0.999973	B	0.31817	0.341	B	0.26864	0.074	T	0.03278	-1.1053	10	0.87932	D	0	-16.5021	8.2741	0.31862	0.0:0.8303:0.0:0.1697	.	571	Q9BWH6	RPAP1_HUMAN	H	571	ENSP00000306123:R571H	ENSP00000306123:R571H	R	-	2	0	RPAP1	39606691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.446000	0.60014	2.530000	0.85305	0.563000	0.77884	CGC		0.617	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		10	21	0	0	0	1	0	10	21				
B4GALNT3	283358	broad.mit.edu	37	12	662873	662873	+	Missense_Mutation	SNP	C	C	T	rs148059237	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:662873C>T	ENST00000266383.5	+	14	1797	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	595					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GAAGTGGTGGCGGCCGCAGGC	0.607													C|||	33	0.00658946	0.0008	0.0058	5008	,	,		17062	0.0		0.0239	False		,,,				2504	0.0041					ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1783-1785)gCg>gTg		beta-1,4-N-acetyl-galactosaminyl transferase 3		C	VAL/ALA	26,4378	30.8+/-60.4	0,26,2176	34.0	33.0	33.0		1784	-1.0	0.0	12	dbSNP_134	33	204,8392	82.6+/-145.2	1,202,4095	yes	missense	B4GALNT3	NM_173593.3	64	1,228,6271	TT,TC,CC		2.3732,0.5904,1.7692	benign	595/999	662873	230,12770	2202	4298	6500	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662873C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1784C>T	12.37:g.662873C>T	ENSP00000266383:p.Ala595Val						p.A595V	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1797	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		595					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1784C>T	CCDS8504.1	17	0.007783882783882784	0	0.0	1	0.0027624309392265192	0	0.0	16	0.021108179419525065	C	7.496	0.651618	0.14516	0.005904	0.023732	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.31769	3.5;1.48	4.88	-1.0	0.10196	.	0.569491	0.17271	N	0.180391	T	0.06872	0.0175	N	0.16478	0.41	0.09310	N	1	B;B	0.15719	0.014;0.001	B;B	0.08055	0.003;0.001	T	0.15378	-1.0439	10	0.29301	T	0.29	-1.0217	5.3289	0.15922	0.1267:0.4403:0.0:0.433	.	498;595	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	V	595;498	ENSP00000266383:A595V;ENSP00000322953:A498V	ENSP00000266383:A595V	A	+	2	0	B4GALNT3	533134	0.000000	0.05858	0.002000	0.10522	0.138000	0.21146	-0.464000	0.06688	-0.087000	0.12528	0.561000	0.74099	GCG		0.607	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		13	26	0	0	0	1	0	13	26				
FSCN3	29999	broad.mit.edu	37	7	127236393	127236393	+	Missense_Mutation	SNP	C	C	T	rs148605578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127236393C>T	ENST00000265825.5	+	3	1072	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.R151C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	285						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R285C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGTGAGGTGCGTGCTGCTTC	0.552																																						ENST00000265825.5																			2	Substitution - Missense(2)	p.R285C(2)	large_intestine(1)|endometrium(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(853-855)Cgt>Tgt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	242.0	209.0	220.0		853	2.7	0.2	7	dbSNP_134	220	0,8600		0,0,4300	no	missense	FSCN3	NM_020369.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	285/499	127236393	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236393C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.853C>T	7.37:g.127236393C>T	ENSP00000265825:p.Arg285Cys					FSCN3_ENST00000420086.2_Missense_Mutation_p.R151C	p.R285C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			3	1072	+			285					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.853C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391742	0.04932	2.27E-4	0.0	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.43688	1.54;0.94	5.46	2.7	0.31948	Fascin domain (1);Actin cross-linking (1);	0.606401	0.16719	N	0.202340	T	0.11495	0.0280	N	0.00308	-1.67	0.09310	N	0.999999	B;B	0.14012	0.009;0.0	B;B	0.12156	0.007;0.0	T	0.27468	-1.0073	10	0.27785	T	0.31	-34.8419	7.4384	0.27169	0.0:0.1632:0.0:0.8368	.	151;285	B4DU68;Q9NQT6	.;FSCN3_HUMAN	C	285;151	ENSP00000265825:R285C;ENSP00000412243:R151C	ENSP00000265825:R285C	R	+	1	0	FSCN3	127023629	0.002000	0.14202	0.162000	0.22713	0.027000	0.11550	0.424000	0.21330	0.399000	0.25367	-0.794000	0.03295	CGT		0.552	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		55	87	0	0	0	1	0	55	87				
CHAT	1103	broad.mit.edu	37	10	50872967	50872967	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50872967G>A	ENST00000337653.2	+	15	2275	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAT_ENST00000395562.2_Missense_Mutation_p.A626T|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Missense_Mutation_p.A590T|CHAT_ENST00000351556.3_Missense_Mutation_p.A590T|CHAT_ENST00000395559.2_Missense_Mutation_p.A590T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	708					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TAGCAAGTTTGCAAAAGCTGT	0.502																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1876-1878)Gca>Aca		choline O-acetyltransferase	Choline(DB00122)						156.0	146.0	149.0					10																	50872967		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50872967G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2122G>A	10.37:g.50872967G>A	ENSP00000337103:p.Ala708Thr					CHAT_ENST00000395559.2_Missense_Mutation_p.A590T|CHAT_ENST00000337653.2_Missense_Mutation_p.A708T|CHAT_ENST00000339797.1_Missense_Mutation_p.A590T|CHAT_ENST00000351556.3_Missense_Mutation_p.A590T|CHAT_ENST00000455728.2_Intron	p.A626T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	16	2345	+		all_neural(218;0.107)	708					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1876G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156492	0.78114	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.76	5.76	0.90799	.	0.053256	0.85682	D	0.000000	D	0.91270	0.7248	M	0.71920	2.185	0.54753	D	0.999981	P	0.43633	0.813	B	0.41988	0.372	D	0.91198	0.4989	10	0.49607	T	0.09	-22.9966	19.9576	0.97228	0.0:0.0:1.0:0.0	.	708	P28329	CLAT_HUMAN	T	590;590;590;708;626	ENSP00000343486:A590T;ENSP00000345878:A590T;ENSP00000378926:A590T;ENSP00000337103:A708T;ENSP00000378929:A626T	ENSP00000337103:A708T	A	+	1	0	CHAT	50542973	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	6.547000	0.73892	2.736000	0.93811	0.655000	0.94253	GCA		0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		67	79	0	0	0	1	0	67	79				
NPAS2	4862	broad.mit.edu	37	2	101591981	101591981	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:101591981G>A	ENST00000335681.5	+	14	1629	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	NPAS2_ENST00000542504.1_Silent_p.L513L|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000433012.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	448					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCCACCCTGCCCCAAGAGT	0.582																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1342-1344)ctG>ctA		neuronal PAS domain protein 2							100.0	102.0	101.0					2																	101591981		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591981G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1344G>A	2.37:g.101591981G>A						NPAS2_ENST00000542504.1_Silent_p.L513L|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.L448L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			14	1629	+			448					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1344G>A	CCDS2048.1																																																																																				0.582	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			9	81	0	0	0	1	0	9	81				
TLN2	83660	broad.mit.edu	37	15	63125774	63125774	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63125774C>T	ENST00000561311.1	+	54	7304	c.7074C>T	c.(7072-7074)agC>agT	p.S2358S	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2358	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCACAAGCGCCCTGGTCA	0.537																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7072-7074)agC>agT		talin 2							97.0	98.0	98.0					15																	63125774		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63125774C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7074C>T	15.37:g.63125774C>T						TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA	p.S2358S			Q9Y4G6	TLN2_HUMAN			54	7304	+			2358			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7074C>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			35	45	0	0	0	1	0	35	45				
ATXN7L2	127002	broad.mit.edu	37	1	110031508	110031508	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110031508G>A	ENST00000369870.3	+	7	838	c.823G>A	c.(823-825)Gcc>Acc	p.A275T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	275	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGGGCCGGGCCAAGGACTT	0.597																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(823-825)Gcc>Acc		ataxin 7-like 2							45.0	50.0	49.0					1																	110031508		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110031508G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.823G>A	1.37:g.110031508G>A	ENSP00000358886:p.Ala275Thr						p.A275T	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	838	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	275			SCA7.			Missense_Mutation	SNP	ENST00000369870.3	37	c.823G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850369	0.32699	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.29397	1.57	5.72	4.79	0.61399	SCA7 domain (2);	0.099589	0.44688	D	0.000440	T	0.03739	0.0106	N	0.00926	-1.1	0.80722	D	1	B	0.16603	0.018	B	0.15870	0.014	T	0.29336	-1.0015	10	0.13470	T	0.59	-9.0466	13.1881	0.59693	0.0:0.0:0.84:0.16	.	275	Q5T6C5	AT7L2_HUMAN	T	275	ENSP00000358886:A275T	ENSP00000358886:A275T	A	+	1	0	ATXN7L2	109833031	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.471000	0.53107	1.375000	0.46248	0.561000	0.74099	GCC		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		6	42	0	0	0	1	0	6	42				
CCL8	6355	broad.mit.edu	37	17	32647883	32647883	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:32647883C>T	ENST00000394620.1	+	3	723	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	86					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				GTCAGGGATTCCATGAAGCAT	0.468																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(256-258)tCc>tTc		chemokine (C-C motif) ligand 8							73.0	65.0	68.0					17																	32647883		2203	4300	6503	SO:0001583	missense	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647883C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.257C>T	17.37:g.32647883C>T	ENSP00000378118:p.Ser86Phe						p.S86F	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			3	723	+		Ovarian(249;0.0443)|Breast(31;0.151)	86					A0AV77|P78388	Missense_Mutation	SNP	ENST00000394620.1	37	c.257C>T	CCDS11280.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949562	0.18356	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	.	.	.	5.34	-2.1	0.07210	Chemokine interleukin-8-like domain (3);	1.965260	0.02625	N	0.103653	T	0.17152	0.0412	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.09228	-1.0684	8	0.15066	T	0.55	.	0.8967	0.01265	0.161:0.2988:0.1566:0.3836	.	86	P80075	CCL8_HUMAN	F	96;86	.	ENSP00000225840:S86F	S	+	2	0	CCL8	29671996	0.000000	0.05858	0.056000	0.19401	0.660000	0.38997	-1.172000	0.03112	0.008000	0.14787	0.563000	0.77884	TCC		0.468	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		8	13	0	0	0	1	0	8	13				
KIAA0226L	80183	broad.mit.edu	37	13	46942206	46942206	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:46942206G>T	ENST00000429979.1	-	5	1401	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S199Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S131Y|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S266Y	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	266										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGTAGAAGACCCAGACTC	0.408																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(796-798)tCt>tAt		KIAA0226-like							168.0	162.0	164.0					13																	46942206		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46942206G>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.797C>A	13.37:g.46942206G>T	ENSP00000396935:p.Ser266Tyr					KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S109Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S266Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S131Y|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S199Y	p.S266Y	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			5	1401	-			266					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.797C>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827424	0.50845	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T;T	0.57107	0.42;0.7;0.67;0.7;0.7;0.67;0.73	5.63	3.91	0.45181	.	0.275725	0.32161	N	0.006496	T	0.65964	0.2742	M	0.64997	1.995	0.35743	D	0.818866	D;D;D;D;D;D	0.76494	0.976;0.983;0.976;0.976;0.997;0.999	P;P;P;P;D;D	0.71870	0.624;0.862;0.675;0.675;0.955;0.975	T	0.73547	-0.3948	10	0.66056	D	0.02	-2.6413	9.9959	0.41898	0.1556:0.0:0.8444:0.0	.	109;266;109;266;199;266	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.	Y	266;266;266;199;266;266;109;109;131	ENSP00000368057:S266Y;ENSP00000396935:S266Y;ENSP00000368074:S266Y;ENSP00000368061:S199Y;ENSP00000374558:S266Y;ENSP00000368064:S266Y;ENSP00000437501:S131Y	ENSP00000315633:S109Y	S	-	2	0	KIAA0226L	45840207	1.000000	0.71417	0.324000	0.25361	0.372000	0.29890	6.080000	0.71299	0.853000	0.35312	-0.136000	0.14681	TCT		0.408	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		58	97	1	0	6.20203e-27	1	6.93455e-27	58	97				
FAT3	120114	broad.mit.edu	37	11	92616214	92616214	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92616214G>A	ENST00000298047.6	+	23	12609	c.12592G>A	c.(12592-12594)Gcc>Acc	p.A4198T	FAT3_ENST00000533797.1_Missense_Mutation_p.A533T|FAT3_ENST00000409404.2_Missense_Mutation_p.A4198T|FAT3_ENST00000525166.1_Missense_Mutation_p.A4048T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4198					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCGGCCACCGCCGCCCTGCT	0.617										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12592-12594)Gcc>Acc		FAT atypical cadherin 3							49.0	61.0	57.0					11																	92616214		2019	4171	6190	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616214G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12592G>A	11.37:g.92616214G>A	ENSP00000298047:p.Ala4198Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A4198T|FAT3_ENST00000533797.1_Missense_Mutation_p.A533T|FAT3_ENST00000525166.1_Missense_Mutation_p.A4048T	p.A4198T			Q8TDW7	FAT3_HUMAN			23	12609	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4198					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12592G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.770376	0.69992	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86097	-0.9;-0.9;-0.91;-2.07	5.85	5.85	0.93711	.	.	.	.	.	D	0.87103	0.6094	L	0.38953	1.18	0.80722	D	1	D;D	0.76494	0.999;0.99	P;P	0.59948	0.866;0.475	T	0.81920	-0.0712	9	0.12430	T	0.62	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4198;4198	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4198;4198;4048;533	ENSP00000298047:A4198T;ENSP00000387040:A4198T;ENSP00000432586:A4048T;ENSP00000436399:A533T	ENSP00000298047:A4198T	A	+	1	0	FAT3	92255862	1.000000	0.71417	0.339000	0.25562	0.523000	0.34469	6.658000	0.74407	2.770000	0.95276	0.655000	0.94253	GCC		0.617	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	28	0	0	0	1	0	13	28				
TBC1D1	23216	broad.mit.edu	37	4	38022223	38022223	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38022223C>T	ENST00000261439.4	+	5	1339	c.984C>T	c.(982-984)caC>caT	p.H328H	TBC1D1_ENST00000508802.1_Silent_p.H328H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	328	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.H328H(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCATCAGACACGTGGACCACT	0.483																																						ENST00000261439.4																			1	Substitution - coding silent(1)	p.H328H(1)	lung(1)	NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(982-984)caC>caT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							287.0	273.0	278.0					4																	38022223		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022223C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.984C>T	4.37:g.38022223C>T						TBC1D1_ENST00000508802.1_Silent_p.H328H	p.H328H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			5	1339	+			328			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.984C>T	CCDS33972.1																																																																																				0.483	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		51	71	0	0	0	1	0	51	71				
LLfos-48D6.1	0	broad.mit.edu	37	19	2352991	2352991	+	RNA	SNP	G	G	A	rs199783195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2352991G>A	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCGACGGCCCGCAGCCTCCCA	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11521	0.0		0.0	False		,,,				2504	0.0					ENST00000452401.2																			0													signal peptide peptidase like 2B		G	,	6,4106		0,6,2050	19.0	27.0	24.0		,1562	-9.6	0.0	19		24	0,8374		0,0,4187	yes	utr-3,coding-synonymous	SPPL2B	NM_001077238.1,NM_152988.2	,	0,6,6237	AA,AG,GG		0.0,0.1459,0.0481	,	,521/593	2352991	6,12480	2056	4187	6243			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2352991G>A																													19.37:g.2352991G>A						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_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)	0	1703	+		Hepatocellular(1079;0.137)							RNA	SNP	ENST00000609490.1	37																																																																																						0.657	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			8	12	0	0	0	1	0	8	12				
ZNF429	353088	broad.mit.edu	37	19	21719314	21719314	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21719314C>A	ENST00000358491.4	+	4	667	c.459C>A	c.(457-459)gtC>gtA	p.V153V	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATGTAAAAGTCTTTTATGCAT	0.333																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(457-459)gtC>gtA		zinc finger protein 429							49.0	51.0	50.0					19																	21719314		2152	4282	6434	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719314C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.459C>A	19.37:g.21719314C>A						ZNF429_ENST00000597078.1_Intron	p.V153V	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	667	+			153					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.459C>A	CCDS42537.1																																																																																				0.333	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		19	23	1	0	3.99206e-14	1	4.34914e-14	19	23				
FXR2	9513	broad.mit.edu	37	17	7499262	7499262	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7499262C>A	ENST00000250113.7	-	8	1045	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	237	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCATCAGGTCCTCTCGCACTG	0.537																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(709-711)gaG>gaT		fragile X mental retardation, autosomal homolog 2							141.0	137.0	138.0					17																	7499262		2042	4191	6233	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7499262C>A	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.711G>T	17.37:g.7499262C>A	ENSP00000250113:p.Glu237Asp						p.E237D	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	8	1045	-			237			KH 1.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.711G>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702364	0.88924	.	.	ENSG00000129245	ENST00000250113	T	0.31510	1.49	5.46	4.48	0.54585	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.51422	1.61	0.54753	D	0.999982	B;B	0.21071	0.051;0.03	B;B	0.30401	0.115;0.065	T	0.09422	-1.0675	10	0.45353	T	0.12	.	8.8836	0.35389	0.0:0.8328:0.0:0.1672	.	237;237	Q86V09;P51116	.;FXR2_HUMAN	D	237	ENSP00000250113:E237D	ENSP00000250113:E237D	E	-	3	2	FXR2	7439987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.020000	0.30027	2.719000	0.93026	0.555000	0.69702	GAG		0.537	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			56	75	1	0	2.01871e-26	1	2.25616e-26	56	75				
CHD5	26038	broad.mit.edu	37	1	6166714	6166714	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6166714G>A	ENST00000262450.3	-	39	5803	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	CHD5_ENST00000378021.1_Missense_Mutation_p.R759C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGTCAGGCGGCTCAGGATG	0.736																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5704-5706)Cgc>Tgc		chromodomain helicase DNA binding protein 5							10.0	12.0	11.0					1																	6166714		2167	4272	6439	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166714G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5704C>T	1.37:g.6166714G>A	ENSP00000262450:p.Arg1902Cys					CHD5_ENST00000378021.1_Missense_Mutation_p.R759C	p.R1902C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	39	5803	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1902					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5704C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.199171	0.79015	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.94650	-3.48;1.6	4.46	4.46	0.54185	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000002	D	0.96608	0.8893	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96859	0.9631	10	0.87932	D	0	-26.2894	12.5687	0.56323	0.0:0.0:0.8337:0.1663	.	1902;759	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1902;759;759	ENSP00000262450:R1902C;ENSP00000367260:R759C	ENSP00000262450:R1902C	R	-	1	0	CHD5	6089301	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.053000	0.64269	2.204000	0.70986	0.313000	0.20887	CGC		0.736	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		8	4	0	0	0	1	0	8	4				
SREBF1	6720	broad.mit.edu	37	17	17721180	17721180	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17721180C>T	ENST00000261646.5	-	7	1418	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000355815.4_Missense_Mutation_p.V442M|SREBF1_ENST00000338854.5_Missense_Mutation_p.V412M|SREBF1_ENST00000395757.1_Missense_Mutation_p.V158M|SREBF1_ENST00000435530.2_Missense_Mutation_p.V412M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	412	Interaction with LMNA. {ECO:0000250}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCCATGAGCACGTCTGTGTTC	0.597																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1324-1326)Gtg>Atg		sterol regulatory element binding transcription factor 1							97.0	98.0	98.0					17																	17721180		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721180C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1234G>A	17.37:g.17721180C>T	ENSP00000261646:p.Val412Met					SREBF1_ENST00000338854.5_Missense_Mutation_p.V412M|SREBF1_ENST00000261646.5_Missense_Mutation_p.V412M|SREBF1_ENST00000395757.1_Missense_Mutation_p.V158M|SREBF1_ENST00000435530.2_Missense_Mutation_p.V412M	p.V442M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			8	1493	-			412			Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1324G>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.01|13.01	2.109051|2.109051	0.37242|0.37242	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79247	.|0.47;0.49;0.5;0.94;-1.25	4.74|4.74	2.76|2.76	0.32466|0.32466	.|.	.|0.213117	.|0.39210	.|N	.|0.001424	T|T	0.76421|0.76421	0.3985|0.3985	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	0.999998|0.999998	.|D;B;D;D	.|0.71674	.|0.998;0.42;0.991;0.997	.|P;B;P;P	.|0.57468	.|0.742;0.066;0.568;0.821	T|T	0.65664|0.65664	-0.6113|-0.6113	5|10	.|0.29301	.|T	.|0.29	-13.6508|-13.6508	9.2328|9.2328	0.37448|0.37448	0.0:0.8287:0.0:0.1713|0.0:0.8287:0.0:0.1713	.|.	.|412;388;412;442	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	H|M	419|412;442;412;158;249;338;412	.|ENSP00000345822:V412M;ENSP00000348069:V442M;ENSP00000261646:V412M;ENSP00000379106:V158M;ENSP00000413389:V412M	.|ENSP00000261646:V412M	R|V	-|-	2|1	0|0	SREBF1|SREBF1	17661905|17661905	0.000000|0.000000	0.05858|0.05858	0.403000|0.403000	0.26384|0.26384	0.257000|0.257000	0.26127|0.26127	0.206000|0.206000	0.17375|0.17375	0.462000|0.462000	0.27095|0.27095	-0.320000|-0.320000	0.08662|0.08662	CGT|GTG		0.597	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		30	37	0	0	0	1	0	30	37				
UGT2B28	54490	broad.mit.edu	37	4	70152508	70152508	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:70152508T>C	ENST00000335568.5	+	3	911	c.909T>C	c.(907-909)ggT>ggC	p.G303G	UGT2B28_ENST00000511240.1_Silent_p.G303G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	303					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGAAAATGGTGTTGTGGTGT	0.408																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(907-909)ggT>ggC		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						146.0	164.0	158.0					4																	70152508		2065	4249	6314	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152508T>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.909T>C	4.37:g.70152508T>C						UGT2B28_ENST00000511240.1_Silent_p.G303G	p.G303G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	911	+			303					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.909T>C	CCDS3528.1																																																																																				0.408	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		68	164	0	0	0	1	0	68	164				
PPAPDC1A	196051	broad.mit.edu	37	10	122280506	122280506	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:122280506G>A	ENST00000398250.1	+	5	696	c.344G>A	c.(343-345)cGc>cAc	p.R115H	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R115H|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R105H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	115					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTCTTTTACCGCTGCTTTCCA	0.517																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(343-345)cGc>cAc		phosphatidic acid phosphatase type 2 domain containing 1A							93.0	92.0	92.0					10																	122280506		1879	4103	5982	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280506G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.344G>A	10.37:g.122280506G>A	ENSP00000381302:p.Arg115His					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R105H|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R115H|PPAPDC1A_ENST00000398248.1_Intron	p.R115H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	696	+		Lung NSC(174;0.1)|all_lung(145;0.132)	115					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.344G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350628	0.95830	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94865	0.8025	10	0.87932	D	0	-22.3041	19.9598	0.97242	0.0:0.0:1.0:0.0	.	115;115	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	H	115;115;115;105	ENSP00000381302:R115H;ENSP00000407979:R115H;ENSP00000440493:R115H;ENSP00000358069:R105H	ENSP00000358069:R105H	R	+	2	0	PPAPDC1A	122270496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	CGC		0.517	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		18	127	0	0	0	1	0	18	127				
SIGLEC1	6614	broad.mit.edu	37	20	3673761	3673761	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3673761G>A	ENST00000344754.4	-	14	3525	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1176C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1176	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TAGGTCAGGCGCAGGTTGCGG	0.677																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3526-3528)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							17.0	24.0	22.0					20																	3673761		2172	4269	6441	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673761G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3526C>T	20.37:g.3673761G>A	ENSP00000341141:p.Arg1176Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1176C	p.R1176C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3525	-			1176			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3526C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782835	0.70222	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.25912	1.8;1.77	4.83	4.83	0.62350	.	0.605964	0.13805	N	0.361491	T	0.34395	0.0896	L	0.36672	1.1	0.40147	D	0.976902	D;D	0.89917	1.0;0.999	P;P	0.56514	0.8;0.738	T	0.02037	-1.1225	10	0.38643	T	0.18	.	13.2775	0.60196	0.0:0.0:1.0:0.0	.	1176;1176	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	1176	ENSP00000341141:R1176C;ENSP00000202578:R1176C	ENSP00000202578:R1176C	R	-	1	0	SIGLEC1	3621761	0.000000	0.05858	0.431000	0.26735	0.922000	0.55478	0.625000	0.24477	2.512000	0.84698	0.655000	0.94253	CGC		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		7	14	0	0	0	1	0	7	14				
PPARD	5467	broad.mit.edu	37	6	35392446	35392446	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35392446C>T	ENST00000311565.4	+	8	1317	c.968C>T	c.(967-969)cCc>cTc	p.P323L	PPARD_ENST00000418635.2_Missense_Mutation_p.P225L|PPARD_ENST00000360694.3_Missense_Mutation_p.P323L|PPARD_ENST00000448077.2_Missense_Mutation_p.P284L|PPARD_ENST00000540939.1_Missense_Mutation_p.P220L|PPARD_ENST00000337400.2_Missense_Mutation_p.P323L|PPARD_ENST00000444397.1_Missense_Mutation_p.P323L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	323	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTCCGCAAACCCTTCAGTGAT	0.527																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(967-969)cCc>cTc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						69.0	65.0	66.0					6																	35392446		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392446C>T	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.968C>T	6.37:g.35392446C>T	ENSP00000310928:p.Pro323Leu					PPARD_ENST00000337400.2_Missense_Mutation_p.P323L|PPARD_ENST00000540939.1_Missense_Mutation_p.P220L|PPARD_ENST00000418635.2_Missense_Mutation_p.P225L|PPARD_ENST00000448077.2_Missense_Mutation_p.P284L|PPARD_ENST00000444397.1_Missense_Mutation_p.P323L|PPARD_ENST00000360694.3_Missense_Mutation_p.P323L	p.P323L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			8	1317	+			323			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.968C>T	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090222	0.94149	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.98532	1.0628	10	0.72032	D	0.01	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	225;284;323;323	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	L	284;323;225;323;323;323;220	ENSP00000414372:P284L;ENSP00000353916:P323L;ENSP00000413314:P225L;ENSP00000410837:P323L;ENSP00000310928:P323L;ENSP00000337063:P323L;ENSP00000443759:P220L	ENSP00000310928:P323L	P	+	2	0	PPARD	35500424	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	CCC		0.527	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		14	12	0	0	0	1	0	14	12				
PDXDC2P	283970	broad.mit.edu	37	16	70029987	70029987	+	RNA	SNP	G	G	A	rs563858289		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70029987G>A	ENST00000531894.1	-	0	1789					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TCAGGTACTCGCATGGGCATG	0.587													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15648	0.0		0.0	False		,,,				2504	0.0					ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(103-105)tgC>tgT																																								0							g.chr16:70029987G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70029987G>A						PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000325845.7_5'UTR	p.C35C							1	104	-								A8K9Z5	Silent	SNP	ENST00000531894.1	37	c.105C>T																																																																																					0.587	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			4	9	0	0	0	1	0	4	9				
DNAH17	8632	broad.mit.edu	37	17	76471508	76471508	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76471508C>A	ENST00000585328.1	-	54	8472	c.8348G>T	c.(8347-8349)cGc>cTc	p.R2783L	DNAH17_ENST00000389840.5_Missense_Mutation_p.R2774L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2774	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCCAGGATGCGATTAATCCT	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8320-8322)cGc>cTc		dynein, axonemal, heavy chain 17							53.0	57.0	55.0					17																	76471508		2071	4212	6283	SO:0001583	missense	8632							g.chr17:76471508C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8348G>T	17.37:g.76471508C>A	ENSP00000465516:p.Arg2783Leu					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2783L	p.R2774L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8445	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8321G>T		.	.	.	.	.	.	.	.	.	.	C	26.1	4.703198	0.88924	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56776	0.44	4.72	4.72	0.59763	.	.	.	.	.	D	0.86818	0.6024	H	0.99942	5.005	0.53688	D	0.999976	.	.	.	.	.	.	D	0.93912	0.7198	7	0.87932	D	0	.	17.6841	0.88252	0.0:1.0:0.0:0.0	.	.	.	.	L	2783;2774	ENSP00000374490:R2774L	ENSP00000300671:R2783L	R	-	2	0	DNAH17	73983103	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	7.652000	0.83633	2.181000	0.69327	0.484000	0.47621	CGC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		25	28	1	0	2.12542e-12	1	2.29988e-12	25	28				
GPR108	56927	broad.mit.edu	37	19	6732129	6732129	+	Missense_Mutation	SNP	C	C	T	rs566849512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6732129C>T	ENST00000264080.7	-	13	1189	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.R146H	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	388						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCTTCCTCGCGGGACTCGAT	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19304	0.0		0.0	False		,,,				2504	0.0					ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1162-1164)cGc>cAc		G protein-coupled receptor 108																																				SO:0001583	missense	56927					integral to membrane		g.chr19:6732129C>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1163G>A	19.37:g.6732129C>T	ENSP00000264080:p.Arg388His					GPR108_ENST00000430424.4_Missense_Mutation_p.R146H	p.R388H	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			13	1189	-			388					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.1163G>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843122	0.71488	.	.	ENSG00000125734	ENST00000264080;ENST00000550472;ENST00000430424	T	0.22945	1.93	4.61	3.53	0.40419	.	0.149567	0.32444	U	0.006089	T	0.37293	0.0998	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.984	P;P	0.59595	0.86;0.806	T	0.17228	-1.0376	10	0.87932	D	0	-22.4648	10.1473	0.42771	0.0:0.6129:0.3871:0.0	.	388;146	Q9NPR9;B9EK73	GP108_HUMAN;.	H	388;38;146	ENSP00000264080:R388H	ENSP00000264080:R388H	R	-	2	0	GPR108	6683129	1.000000	0.71417	0.889000	0.34880	0.184000	0.23303	4.113000	0.57851	2.104000	0.64026	0.491000	0.48974	CGC		0.642	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			6	18	0	0	0	1	0	6	18				
FAM120AOS	158293	broad.mit.edu	37	9	96214909	96214909	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:96214909A>G	ENST00000375412.5	-	1	965	c.83T>C	c.(82-84)gTc>gCc	p.V28A	FAM120A_ENST00000340893.4_Intron|FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000333936.5_Intron|FAM120AOS_ENST00000423591.1_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	28										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CCGCGTGGGGACACTTGAGGG	0.662																																						ENST00000375412.5																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(82-84)gTc>gCc		family with sequence similarity 120A opposite strand							17.0	20.0	19.0					9																	96214909		1937	3925	5862	SO:0001583	missense	158293							g.chr9:96214909A>G	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.83T>C	9.37:g.96214909A>G	ENSP00000364561:p.Val28Ala					FAM120A_ENST00000333936.5_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000277165.6_Intron	p.V28A	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN			1	965	-			28					A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	c.83T>C	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	A	9.580	1.123366	0.20959	.	.	ENSG00000188938	ENST00000375412	T	0.53857	0.6	3.12	-5.67	0.02444	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.09310	N	0.999997	P	0.37573	0.6	B	0.36885	0.235	T	0.21314	-1.0249	9	0.18710	T	0.47	-1.3832	0.973	0.01420	0.2307:0.3586:0.1162:0.2945	.	28	Q5T036	F120S_HUMAN	A	28	ENSP00000364561:V28A	ENSP00000364561:V28A	V	-	2	0	FAM120AOS	95254730	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.264000	0.08658	-0.804000	0.04410	-0.349000	0.07799	GTC		0.662	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			9	20	0	0	0	1	0	9	20				
HCK	3055	broad.mit.edu	37	20	30659548	30659548	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30659548C>A	ENST00000520553.1	+	2	329	c.83C>A	c.(82-84)cCt>cAt	p.P28H	HCK_ENST00000518730.1_Missense_Mutation_p.P28H|HCK_ENST00000538448.1_Missense_Mutation_p.P28H|HCK_ENST00000375862.2_Missense_Mutation_p.P49H|HCK_ENST00000375852.2_Missense_Mutation_p.P49H|HCK_ENST00000534862.1_Missense_Mutation_p.P29H	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	49					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCACACTGTCCTGTGTACGTG	0.577																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(85-87)cCt>cAt		hemopoietic cell kinase							103.0	82.0	89.0					20																	30659548		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659548C>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.83C>A	20.37:g.30659548C>A	ENSP00000429848:p.Pro28His					HCK_ENST00000518730.1_Missense_Mutation_p.P28H|HCK_ENST00000375862.2_Missense_Mutation_p.P49H|HCK_ENST00000520553.1_Missense_Mutation_p.P28H|HCK_ENST00000375852.2_Missense_Mutation_p.P49H|HCK_ENST00000538448.1_Missense_Mutation_p.P28H	p.P29H	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	449	+			49					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.86C>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	C	9.951	1.220205	0.22457	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.74002	-0.78;-0.78;-0.8;-0.78;-0.8;-0.79	4.28	3.32	0.38043	.	0.656367	0.14400	N	0.321935	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.54146	-0.8337	10	0.48119	T	0.1	.	10.2333	0.43268	0.0:0.7982:0.2018:0.0	.	28;49	P08631-3;P08631	.;HCK_HUMAN	H	29;28;49;28;28;49	ENSP00000444986:P29H;ENSP00000441169:P28H;ENSP00000365022:P49H;ENSP00000429848:P28H;ENSP00000427757:P28H;ENSP00000365012:P49H	ENSP00000365012:P49H	P	+	2	0	HCK	30123209	0.034000	0.19679	0.001000	0.08648	0.040000	0.13550	2.552000	0.45828	1.147000	0.42369	0.305000	0.20034	CCT		0.577	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			8	23	1	0	0.000157383	1	0.000161063	8	23				
ANKAR	150709	broad.mit.edu	37	2	190611229	190611229	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190611229A>C	ENST00000520309.1	+	23	4269	c.4181A>C	c.(4180-4182)aAt>aCt	p.N1394T	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.N1323T|ANKAR_ENST00000313581.4_Missense_Mutation_p.N1394T|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1394						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GATTCCCATAATATTTTTTCT	0.333																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(4180-4182)aAt>aCt		ankyrin and armadillo repeat containing							71.0	80.0	77.0					2																	190611229		2202	4298	6500	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190611229A>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4181A>C	2.37:g.190611229A>C	ENSP00000427882:p.Asn1394Thr					ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.N1323T|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.N1394T	p.N1394T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		23	4269	+			1394					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.4181A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	9.800	1.180348	0.21787	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.24151	1.87;1.87;1.87	4.33	0.4	0.16331	.	0.425527	0.21174	N	0.078925	T	0.16385	0.0394	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.13176	-1.0519	8	0.48119	T	0.1	-11.8719	3.853	0.08963	0.6622:0.0:0.1814:0.1563	.	.	.	.	T	1394;1394;1323	ENSP00000427882:N1394T;ENSP00000313513:N1394T;ENSP00000393043:N1323T	ENSP00000313513:N1394T	N	+	2	0	ANKAR	190319474	0.018000	0.18449	0.004000	0.12327	0.934000	0.57294	0.711000	0.25764	-0.010000	0.14271	-0.403000	0.06358	AAT		0.333	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		45	63	0	0	0	1	0	45	63				
RTEL1	51750	broad.mit.edu	37	20	62324233	62324233	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62324233G>T	ENST00000360203.5	+	29	3053	c.2728G>T	c.(2728-2730)Gcc>Tcc	p.A910S	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A910S|RTEL1_ENST00000370003.1_Missense_Mutation_p.A155S|RTEL1_ENST00000318100.4_Missense_Mutation_p.A910S|RTEL1_ENST00000508582.2_Missense_Mutation_p.A934S|RTEL1_ENST00000370018.3_Missense_Mutation_p.A910S					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTGAGCCAAGCCAACTTTGC	0.652																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2728-2730)Gcc>Tcc		regulator of telomere elongation helicase 1							109.0	103.0	105.0					20																	62324233		2199	4295	6494	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324233G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2728G>T	20.37:g.62324233G>T	ENSP00000353332:p.Ala910Ser					RTEL1_ENST00000370003.1_Missense_Mutation_p.A155S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A910S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A910S|RTEL1_ENST00000370018.3_Missense_Mutation_p.A910S|RTEL1_ENST00000508582.2_Missense_Mutation_p.A934S	p.A910S			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3555	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		910						Missense_Mutation	SNP	ENST00000360203.5	37	c.2728G>T		.	.	.	.	.	.	.	.	.	.	G	10.89	1.478612	0.26511	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.59	3.64	0.41730	.	0.524574	0.20064	N	0.100007	T	0.22936	0.0554	M	0.64997	1.995	0.28070	N	0.932611	P;D;B;P	0.89917	0.887;1.0;0.155;0.876	P;D;B;P	0.87578	0.604;0.998;0.109;0.62	T	0.06250	-1.0837	10	0.11485	T	0.65	-16.2369	8.1448	0.31104	0.0909:0.1603:0.7488:0.0	.	934;155;910;910	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	S	910;910;934;910;155	ENSP00000359035:A910S;ENSP00000322287:A910S;ENSP00000424307:A934S;ENSP00000353332:A910S;ENSP00000359020:A155S	ENSP00000353332:A910S	A	+	1	0	AL353715.1	61794677	0.954000	0.32549	0.998000	0.56505	0.171000	0.22731	1.454000	0.35178	1.063000	0.40649	0.442000	0.29010	GCC		0.652	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		25	46	1	0	3.01185e-09	1	3.19065e-09	25	46				
KIAA1328	57536	broad.mit.edu	37	18	34752975	34752975	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:34752975C>A	ENST00000280020.5	+	9	1476	c.1454C>A	c.(1453-1455)cCt>cAt	p.P485H	KIAA1328_ENST00000543923.1_Missense_Mutation_p.P377H|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P237H|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P237H|KIAA1328_ENST00000591619.1_Missense_Mutation_p.P481H	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	485										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TCTACATCTCCTATGCCAACA	0.383																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1441-1443)cCt>cAt		KIAA1328							148.0	152.0	150.0					18																	34752975		2023	4192	6215	SO:0001583	missense	57536							g.chr18:34752975C>A	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1454C>A	18.37:g.34752975C>A	ENSP00000280020:p.Pro485His					KIAA1328_ENST00000280020.5_Missense_Mutation_p.P485H|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P237H|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P377H|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P237H	p.P481H			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	9	2228	+			485					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1442C>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638442	0.67130	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.66099	0.03;-0.19;0.27	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	M	0.64404	1.975	0.47621	D	0.999471	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.995	T	0.77742	-0.2474	10	0.87932	D	0	.	14.9609	0.71156	0.0:0.8584:0.1416:0.0	.	485;237;485	A8K8C3;Q86T90-3;Q86T90	.;.;K1328_HUMAN	H	377;485;485;237	ENSP00000441359:P377H;ENSP00000280020:P485H;ENSP00000390515:P237H	ENSP00000280020:P485H	P	+	2	0	KIAA1328	33006973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.375000	0.52410	2.854000	0.98071	0.655000	0.94253	CCT		0.383	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		45	47	1	0	3.50607e-19	1	3.87742e-19	45	47				
NDUFA13	51079	broad.mit.edu	37	19	19638886	19638886	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19638886C>T	ENST00000507754.4	+	5	870	c.386C>T	c.(385-387)aCc>aTc	p.T129I	NDUFA13_ENST00000503283.1_Intron|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.T212I|CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.T129I|YJEFN3_ENST00000608404.1_Intron			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	129	Important for inducing cell death.				apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGGCTGCGCACCACAGAGGAG	0.667																																						ENST00000507754.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						c.(385-387)aCc>aTc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13							48.0	43.0	45.0					19																	19638886		2203	4300	6503	SO:0001583	missense	51079							g.chr19:19638886C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.386C>T	19.37:g.19638886C>T	ENSP00000423673:p.Thr129Ile					CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.T212I|NDUFA13_ENST00000503283.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR	p.T129I							5	887	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.386C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510465	0.44660	.	.	ENSG00000186010	ENST00000507754;ENST00000252576	T;T	0.76968	-1.06;-1.06	4.7	4.7	0.59300	.	0.355002	0.26007	N	0.026914	T	0.77877	0.4196	L	0.44542	1.39	0.58432	D	0.999998	D;B	0.54397	0.966;0.257	P;B	0.52646	0.705;0.198	T	0.77913	-0.2410	10	0.42905	T	0.14	.	13.1963	0.59740	0.0:1.0:0.0:0.0	.	129;129	B4DF76;Q9P0J0	.;NDUAD_HUMAN	I	129;212	ENSP00000423673:T129I;ENSP00000252576:T212I	ENSP00000252576:T212I	T	+	2	0	NDUFA13	19499886	0.011000	0.17503	0.003000	0.11579	0.002000	0.02628	2.581000	0.46077	2.199000	0.70637	0.585000	0.79938	ACC		0.667	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		5	9	0	0	0	1	0	5	9				
WDR54	84058	broad.mit.edu	37	2	74653420	74653420	+	IGR	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74653420C>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Missense_Mutation_p.G498C|RTKN_ENST00000272430.5_Missense_Mutation_p.G548C|RTKN_ENST00000305557.5_Missense_Mutation_p.G535C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGCAGAGGCCTCTGGTCCGT	0.612																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1603-1605)Ggc>Tgc		rhotekin							90.0	101.0	97.0					2																	74653420		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653420C>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653420C>A						RTKN_ENST00000272430.5_Missense_Mutation_p.G548C|RTKN_ENST00000233330.6_Missense_Mutation_p.G498C	p.G535C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2188	-			548			Pro-rich.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1603G>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841808	0.51057	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.32753	1.45;1.44;1.45	5.3	3.52	0.40303	.	0.227277	0.44688	D	0.000436	T	0.29684	0.0741	L	0.27053	0.805	0.31045	N	0.71583	P;D	0.60575	0.938;0.988	B;P	0.53593	0.417;0.73	T	0.20974	-1.0259	10	0.56958	D	0.05	.	7.974	0.30145	0.0:0.8182:0.0:0.1818	.	548;535	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	C	535;548;498	ENSP00000305298:G535C;ENSP00000272430:G548C;ENSP00000233330:G498C	ENSP00000233330:G498C	G	-	1	0	RTKN	74506928	0.993000	0.37304	0.991000	0.47740	0.705000	0.40729	1.720000	0.38022	0.826000	0.34661	-0.140000	0.14226	GGC		0.612	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		4	96	1	0	0.00024832	1	0.000253518	4	96				
FAT1	2195	broad.mit.edu	37	4	187629095	187629095	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187629095C>T	ENST00000441802.2	-	2	2096	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	629	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCATTAGCGATCGCTTTA	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1885-1887)tcG>tcA		FAT atypical cadherin 1							84.0	78.0	80.0					4																	187629095		1876	4098	5974	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629095C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1887G>A	4.37:g.187629095C>T		HNSCC(5;0.00058)					p.S629S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2096	-			629			Cadherin 5.			Silent	SNP	ENST00000441802.2	37	c.1887G>A	CCDS47177.1																																																																																				0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		37	34	0	0	0	1	0	37	34				
RGS18	64407	broad.mit.edu	37	1	192127877	192127877	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:192127877C>T	ENST00000367460.3	+	1	291	c.110C>T	c.(109-111)gCc>gTc	p.A37V	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAAAGAAGCCAAAATCAGG	0.284																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(109-111)gCc>gTc		regulator of G-protein signaling 18							48.0	52.0	50.0					1																	192127877		2202	4287	6489	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127877C>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.110C>T	1.37:g.192127877C>T	ENSP00000356430:p.Ala37Val					RGS18_ENST00000481707.1_3'UTR	p.A37V	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			1	291	+			37					B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.110C>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244697	0.39697	.	.	ENSG00000150681	ENST00000367460	T	0.51071	0.72	6.06	0.193	0.15139	.	0.851416	0.10732	N	0.640516	T	0.31136	0.0787	L	0.41236	1.265	0.26822	N	0.968762	B	0.10296	0.003	B	0.06405	0.002	T	0.22277	-1.0221	10	0.25751	T	0.34	.	2.3317	0.04237	0.3556:0.3779:0.1161:0.1503	.	37	Q9NS28	RGS18_HUMAN	V	37	ENSP00000356430:A37V	ENSP00000356430:A37V	A	+	2	0	RGS18	190394500	0.388000	0.25197	0.998000	0.56505	0.991000	0.79684	-0.362000	0.07602	0.118000	0.18165	-0.175000	0.13238	GCC		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		4	60	0	0	0	1	0	4	60				
ZNF385A	25946	broad.mit.edu	37	12	54764451	54764451	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54764451G>A	ENST00000338010.5	-	7	942	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZNF385A_ENST00000551771.1_Silent_p.L196L|ZNF385A_ENST00000546970.1_Silent_p.L277L|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.L277L|ZNF385A_ENST00000551109.1_Silent_p.L277L|ZNF385A_ENST00000352268.6_Silent_p.L216L	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	297	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TGACGGCTCAGTAGTGGGTTG	0.701											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000546970.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(829-831)Ctg>Ttg		zinc finger protein 385A							22.0	27.0	26.0					12																	54764451		2202	4296	6498	SO:0001819	synonymous_variant	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54764451G>A	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.889C>T	12.37:g.54764451G>A			OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	ZNF385A_ENST00000394313.2_Silent_p.L277L|ZNF385A_ENST00000551109.1_Silent_p.L277L|ZNF385A_ENST00000551771.1_Silent_p.L196L|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.L216L|ZNF385A_ENST00000338010.5_Silent_p.L297L	p.L277L			Q96PM9	Z385A_HUMAN			8	1118	-			277					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	c.829C>T	CCDS44911.1																																																																																				0.701	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		9	9	0	0	0	1	0	9	9				
MRC2	9902	broad.mit.edu	37	17	60767659	60767659	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60767659C>T	ENST00000303375.5	+	26	4287	c.3885C>T	c.(3883-3885)tgC>tgT	p.C1295C	MRC2_ENST00000446119.2_Silent_p.C161C	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1295	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GACAGCGCTGCCAGAGAGGTG	0.642																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3883-3885)tgC>tgT		mannose receptor, C type 2							23.0	28.0	26.0					17																	60767659		2203	4299	6502	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767659C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3885C>T	17.37:g.60767659C>T						MRC2_ENST00000446119.2_Silent_p.C161C	p.C1295C	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			26	4287	+			1295			C-type lectin 8.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3885C>T	CCDS11634.1																																																																																				0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	16	0	0	0	1	0	4	16				
PLN	5350	broad.mit.edu	37	6	118880187	118880187	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:118880187T>G	ENST00000357525.5	+	2	295	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000360290.3_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	35					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATTTATCAATTTCTGTCTCAT	0.418																																						ENST00000357525.5																			0				large_intestine(1)|lung(3)	4						c.(103-105)Ttc>Gtc		phospholamban							187.0	168.0	175.0					6																	118880187		2203	4300	6503	SO:0001583	missense	5350				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	g.chr6:118880187T>G		CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.103T>G	6.37:g.118880187T>G	ENSP00000350132:p.Phe35Val					CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000392500.3_Intron	p.F35V	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)	2	295	+		all_cancers(87;0.0916)|all_epithelial(87;0.131)	35						Missense_Mutation	SNP	ENST00000357525.5	37	c.103T>G	CCDS5120.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263310	0.39995	.	.	ENSG00000198523	ENST00000357525	D	0.91577	-2.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	.	.	.	0.58432	D	0.999997	P	0.52842	0.956	P	0.58970	0.849	D	0.94314	0.7548	9	0.87932	D	0	-33.8086	15.7397	0.77882	0.0:0.0:0.0:1.0	.	35	P26678	PPLA_HUMAN	V	35	ENSP00000350132:F35V	ENSP00000350132:F35V	F	+	1	0	PLN	118986880	1.000000	0.71417	0.991000	0.47740	0.158000	0.22134	6.654000	0.74387	2.121000	0.65114	0.533000	0.62120	TTC		0.418	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1	NM_002667		26	33	0	0	0	1	0	26	33				
ZFP90	146198	broad.mit.edu	37	16	68597461	68597461	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68597461C>T	ENST00000570495.1	+	5	1063	c.771C>T	c.(769-771)acC>acT	p.T257T	ZFP90_ENST00000398253.2_Silent_p.T257T|ZFP90_ENST00000563169.2_Silent_p.T257T			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	257					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTACCGACTGTGGGA	0.428																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(769-771)acC>acT		ZFP90 zinc finger protein							97.0	106.0	103.0					16																	68597461		2150	4272	6422	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597461C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.771C>T	16.37:g.68597461C>T						RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.T257T|ZFP90_ENST00000398253.2_Silent_p.T257T	p.T257T			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1063	+		Ovarian(137;0.192)	257					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.771C>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171500	0.21704	.	.	ENSG00000184939	ENST00000327567	.	.	.	5.7	0.634	0.17718	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15407	-1.0438	5	0.25751	T	0.34	-2.9245	1.6274	0.02726	0.1264:0.1457:0.2616:0.4664	.	.	.	.	L	29	.	ENSP00000329859:P29L	P	+	2	0	ZFP90	67154962	0.000000	0.05858	0.988000	0.46212	0.956000	0.61745	-1.452000	0.02385	-0.113000	0.11958	-0.295000	0.09555	CCG		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		42	64	0	0	0	1	0	42	64				
ZNF286B	729288	broad.mit.edu	37	17	18566346	18566346	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566346T>C	ENST00000545289.1	-	5	723	c.473A>G	c.(472-474)gAa>gGa	p.E158G	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						ATTTTCACATTCAAGGGCTGC	0.403																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(472-474)gAa>gGa		zinc finger protein 286B							155.0	124.0	133.0					17																	18566346		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566346T>C		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.473A>G	17.37:g.18566346T>C	ENSP00000461413:p.Glu158Gly						p.E158G	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	723	-			158						Missense_Mutation	SNP	ENST00000545289.1	37	c.473A>G	CCDS58523.1																																																																																				0.403	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		4	79	0	0	0	1	0	4	79				
SGSH	6448	broad.mit.edu	37	17	78197133	78197133	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78197133C>T	ENST00000326317.6	-	0	0				SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000361193.3_Silent_p.I170I|SLC26A11_ENST00000411502.3_Silent_p.I170I|SLC26A11_ENST00000546047.2_Silent_p.I170I|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000572725.1_Silent_p.I170I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTGGACAGATCAAGGTAGGCA	0.617																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(508-510)atC>atT		solute carrier family 26 (anion exchanger), member 11							82.0	57.0	65.0					17																	78197133		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78197133C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78197133C>T	Exception_encountered					SLC26A11_ENST00000572725.1_Silent_p.I170I|SLC26A11_ENST00000411502.3_Silent_p.I170I|SLC26A11_ENST00000546047.2_Silent_p.I170I	p.I170I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	790	+	all_neural(118;0.0538)		170					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.510C>T	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		5	9	0	0	0	1	0	5	9				
NFYC	4802	broad.mit.edu	37	1	41223865	41223865	+	Missense_Mutation	SNP	G	G	A	rs139077351		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:41223865G>A	ENST00000308733.5	+	5	466	c.460G>A	c.(460-462)Gct>Act	p.A154T	MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000440226.3_Missense_Mutation_p.A154T|NFYC_ENST00000372652.1_Missense_Mutation_p.A154T|NFYC_ENST00000427410.2_Missense_Mutation_p.A116T|NFYC_ENST00000372654.1_Missense_Mutation_p.A154T|NFYC_ENST00000447388.3_Missense_Mutation_p.A154T|NFYC_ENST00000372651.1_Missense_Mutation_p.A154T|NFYC_ENST00000372653.1_Missense_Mutation_p.A154T|NFYC_ENST00000425457.2_Missense_Mutation_p.A154T|NFYC_ENST00000456393.2_Missense_Mutation_p.A154T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	154					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GCAACCCACCGCTGTCCAAGT	0.612																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(460-462)Gct>Act		nuclear transcription factor Y, gamma		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	54.0	47.0	49.0		460,460,346,460,460	5.6	1.0	1	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NFYC	NM_001142587.1,NM_001142588.1,NM_001142589.1,NM_001142590.1,NM_014223.4	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	154/335,154/355,116/298,154/302,154/336	41223865	1,13005	2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41223865G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.460G>A	1.37:g.41223865G>A	ENSP00000312617:p.Ala154Thr					NFYC_ENST00000440226.3_Missense_Mutation_p.A154T|NFYC_ENST00000427410.2_Missense_Mutation_p.A116T|NFYC_ENST00000425457.2_Missense_Mutation_p.A154T|NFYC_ENST00000372651.1_Missense_Mutation_p.A154T|NFYC_ENST00000372653.1_Missense_Mutation_p.A154T|NFYC_ENST00000372654.1_Missense_Mutation_p.A154T|NFYC_ENST00000308733.5_Missense_Mutation_p.A154T|NFYC_ENST00000456393.2_Missense_Mutation_p.A154T|NFYC_ENST00000447388.3_Missense_Mutation_p.A154T	p.A154T			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		6	728	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	154					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.460G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.549190|4.549190	0.86127|0.86127	0.0|0.0	1.16E-4|1.16E-4	ENSG00000066136|ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733|ENST00000414185	T;T;T;T;T;T;T;T;T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08;-0.08;1.38;-0.08;-0.08;-0.08;-0.08;1.38;-0.08|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.048670|.	0.85682|.	D|.	0.000000|.	T|T	0.72590|0.72590	0.3479|0.3479	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;P;B;P;B;B;D|.	0.89917|.	0.025;0.265;0.605;0.008;0.507;0.014;0.014;1.0|.	B;B;B;B;B;B;B;D|.	0.73708|.	0.005;0.03;0.033;0.002;0.051;0.005;0.005;0.981|.	T|T	0.70234|0.70234	-0.4928|-0.4928	10|5	0.51188|.	T|.	0.08|.	.|.	17.0961|17.0961	0.86635|0.86635	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116;60;154;154;154;154;154;154|.	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6|.	.;.;NFYC_HUMAN;.;.;.;.;.|.	T|H	116;154;154;154;52;52;154;154;154;154;154;154;122;154|36	ENSP00000408315:A116T;ENSP00000404427:A154T;ENSP00000396620:A154T;ENSP00000408867:A154T;ENSP00000361738:A154T;ENSP00000361737:A154T;ENSP00000361754:A154T;ENSP00000361736:A154T;ENSP00000361734:A154T;ENSP00000414299:A154T;ENSP00000409219:A122T;ENSP00000312617:A154T|.	ENSP00000312617:A154T|.	A|R	+|+	1|2	0|0	NFYC|NFYC	40996452|40996452	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	5.286000|5.286000	0.65639|0.65639	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.612	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		12	15	0	0	0	1	0	12	15				
DCHS2	54798	broad.mit.edu	37	4	155157215	155157215	+	Silent	SNP	G	G	T	rs572379226		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155157215G>T	ENST00000357232.4	-	25	7223	c.7224C>A	c.(7222-7224)tcC>tcA	p.S2408S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2408	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACCACTAAGGAGGCAGTTG	0.413																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7222-7224)tcC>tcA		dachsous cadherin-related 2							82.0	80.0	81.0					4																	155157215		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157215G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7224C>A	4.37:g.155157215G>T							p.S2408S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7223	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2408			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.7224C>A	CCDS3785.1																																																																																				0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		39	54	1	0	2.52637e-11	1	2.71738e-11	39	54				
WWP2	11060	broad.mit.edu	37	16	69965459	69965459	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69965459G>A	ENST00000359154.2	+	15	1670	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	WWP2_ENST00000448661.1_Silent_p.T523T|WWP2_ENST00000568684.1_Silent_p.T84T|WWP2_ENST00000356003.2_Silent_p.T523T|WWP2_ENST00000542271.1_Silent_p.T407T|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	523					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGGCAGACGCTTTTCGAAG	0.507																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1567-1569)acG>acA		WW domain containing E3 ubiquitin protein ligase 2							92.0	81.0	84.0					16																	69965459		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69965459G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1569G>A	16.37:g.69965459G>A						WWP2_ENST00000356003.2_Silent_p.T523T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.T407T|WWP2_ENST00000568684.1_Silent_p.T84T|WWP2_ENST00000448661.1_Silent_p.T523T	p.T523T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			15	1670	+			523					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.1569G>A	CCDS10885.1																																																																																				0.507	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		46	38	0	0	0	1	0	46	38				
AKR1E2	83592	broad.mit.edu	37	10	4875568	4875568	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:4875568C>A	ENST00000298375.7	+	3	305	c.234C>A	c.(232-234)tcC>tcA	p.S78S	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Silent_p.S78S|AKR1E2_ENST00000334019.4_Silent_p.S78S|AKR1E2_ENST00000345253.5_Silent_p.S78S	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	78						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATAAGAAGTCCTTGGTGGAAA	0.537																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(232-234)tcC>tcA		aldo-keto reductase family 1, member E2							213.0	183.0	193.0					10																	4875568		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4875568C>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.234C>A	10.37:g.4875568C>A						AKR1E2_ENST00000532248.1_Silent_p.S78S|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Silent_p.S78S|AKR1E2_ENST00000334019.4_Silent_p.S78S	p.S78S	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			3	305	+			78					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.234C>A	CCDS31134.1																																																																																				0.537	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		35	55	1	0	1.59932e-28	1	1.79037e-28	35	55				
AHDC1	27245	broad.mit.edu	37	1	27874390	27874390	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27874390G>A	ENST00000247087.5	-	5	4833	c.4237C>T	c.(4237-4239)Cgg>Tgg	p.R1413W	AHDC1_ENST00000374011.2_Missense_Mutation_p.R1413W			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1413							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCGGTGGCCGCAGCTCTTCC	0.682																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4237-4239)Cgg>Tgg		AT hook, DNA binding motif, containing 1							24.0	25.0	25.0					1																	27874390		2195	4279	6474	SO:0001583	missense	27245						DNA binding	g.chr1:27874390G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4237C>T	1.37:g.27874390G>A	ENSP00000247087:p.Arg1413Trp					AHDC1_ENST00000247087.5_Missense_Mutation_p.R1413W|AHDC1_ENST00000482400.2_Intron	p.R1413W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5205	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1413					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4237C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378010	0.61735	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.54279	0.58;0.58	5.67	4.75	0.60458	.	0.193105	0.35124	N	0.003425	T	0.56156	0.1966	N	0.19112	0.55	0.44247	D	0.997095	D	0.76494	0.999	D	0.67548	0.952	T	0.61888	-0.6970	10	0.87932	D	0	-15.0341	12.7826	0.57485	0.0:0.0:0.7024:0.2976	.	1413	Q5TGY3	AHDC1_HUMAN	W	1413	ENSP00000247087:R1413W;ENSP00000363123:R1413W	ENSP00000247087:R1413W	R	-	1	2	AHDC1	27746977	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.055000	0.49916	1.393000	0.46605	0.655000	0.94253	CGG		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			33	49	0	0	0	1	0	33	49				
GMPPB	29925	broad.mit.edu	37	3	49760429	49760429	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49760429G>A	ENST00000480687.1	-	5	494	c.378C>T	c.(376-378)caC>caT	p.H126H	GMPPB_ENST00000308388.6_Silent_p.H126H|GMPPB_ENST00000308375.6_Silent_p.H126H|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	126			H -> D (in dbSNP:rs34345884).		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTGGCCATGGTGCCGGTGGA	0.582																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(376-378)caC>caT		GDP-mannose pyrophosphorylase B							48.0	48.0	48.0					3																	49760429		2203	4299	6502	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49760429G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.378C>T	3.37:g.49760429G>A						AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.H126H|GMPPB_ENST00000308375.6_Silent_p.H126H	p.H126H			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	494	-			126		H -> D (in dbSNP:rs34345884).			A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.378C>T	CCDS2803.1																																																																																				0.582	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		4	27	0	0	0	1	0	4	27				
GAK	2580	broad.mit.edu	37	4	853455	853455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:853455C>T	ENST00000314167.4	-	24	3332	c.3222G>A	c.(3220-3222)tgG>tgA	p.W1074*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.W995*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1074					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAGACTTGGTCCAGCTGGCCT	0.612																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3220-3222)tgG>tgA		cyclin G associated kinase							59.0	64.0	62.0					4																	853455		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853455C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3222G>A	4.37:g.853455C>T	ENSP00000314499:p.Trp1074*					GAK_ENST00000511163.1_Nonsense_Mutation_p.W995*|GAK_ENST00000509566.1_5'UTR	p.W1074*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	24	3332	-			1074					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3222G>A	CCDS3340.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.8|21.8|21.8	4.200898|4.200898|4.200898	0.79015|0.79015|0.79015	.|.|.	.|.|.	ENSG00000178950|ENSG00000178950|ENSG00000178950	ENST00000510799|ENST00000511980|ENST00000398567;ENST00000314167;ENST00000511163	.|.|.	.|.|.	.|.|.	4.68|4.68|4.68	-0.157|-0.157|-0.157	0.13387|0.13387|0.13387	.|.|.	.|.|0.836525	.|.|0.10676	.|.|N	.|.|0.646924	T|T|.	0.42086|0.42086|.	0.1187|0.1187|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.50189|0.50189|.	-0.8857|-0.8857|.	3|3|.	.|.|0.42905	.|.|T	.|.|0.14	-0.025|-0.025|-0.025	6.4134|6.4134|6.4134	0.21704|0.21704|0.21704	0.0:0.5144:0.2821:0.2035|0.0:0.5144:0.2821:0.2035|0.0:0.5144:0.2821:0.2035	.|.|.	.|.|.	.|.|.	.|.|.	N|E|X	194|186|350;1074;995	.|.|.	.|.|ENSP00000314499:W1074X	D|G|W	-|-|-	1|2|3	0|0|0	GAK|GAK|GAK	843455|843455|843455	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.754000|0.754000|0.754000	0.31244|0.31244|0.31244	0.800000|0.800000|0.800000	0.45204|0.45204|0.45204	0.126000|0.126000|0.126000	0.15769|0.15769|0.15769	0.008000|0.008000|0.008000	0.14787|0.14787|0.14787	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAC|GGA|TGG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		18	33	0	0	0	1	0	18	33				
RASIP1	54922	broad.mit.edu	37	19	49238616	49238616	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49238616T>C	ENST00000222145.4	-	4	1220	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	339					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCTCCTGCTGCCGCCGCCG	0.657																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1015-1017)cAg>cGg		Ras interacting protein 1							21.0	22.0	22.0					19																	49238616		2201	4298	6499	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238616T>C	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1016A>G	19.37:g.49238616T>C	ENSP00000222145:p.Gln339Arg					RASIP1_ENST00000594232.1_5'UTR	p.Q339R	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1220	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	339					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.1016A>G	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046298	0.55110	.	.	ENSG00000105538	ENST00000222145	T	0.07216	3.21	5.27	5.27	0.74061	.	0.309004	0.30901	N	0.008659	T	0.09069	0.0224	L	0.40543	1.245	0.30641	N	0.75642	P	0.37864	0.61	B	0.37989	0.262	T	0.04509	-1.0946	10	0.48119	T	0.1	-10.7772	11.8741	0.52537	0.0:0.0:0.0:1.0	.	339	Q5U651	RAIN_HUMAN	R	339	ENSP00000222145:Q339R	ENSP00000222145:Q339R	Q	-	2	0	RASIP1	53930428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	2.126000	0.65437	0.459000	0.35465	CAG		0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		8	12	0	0	0	1	0	8	12				
RNF38	152006	broad.mit.edu	37	9	36351115	36351115	+	Silent	SNP	G	G	A	rs369087477		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36351115G>A	ENST00000259605.6	-	9	1367	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	RNF38_ENST00000357058.3_Silent_p.Y337Y|RNF38_ENST00000377877.4_Silent_p.Y344Y|RNF38_ENST00000350199.4_Silent_p.Y337Y|RNF38_ENST00000377885.2_Silent_p.Y337Y|RNF38_ENST00000353739.4_Silent_p.Y370Y	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	420					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TACTAACCTCGTAATTTTCTA	0.383																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1009-1011)taC>taT		ring finger protein 38		G	,,,,	0,4406		0,0,2203	86.0	82.0	83.0		1260,1011,1110,1011,1011	-8.9	0.9	9		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RNF38	NM_022781.4,NM_194328.2,NM_194329.2,NM_194330.2,NM_194332.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	420/516,337/433,370/466,337/433,337/433	36351115	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152006						zinc ion binding	g.chr9:36351115G>A		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1260C>T	9.37:g.36351115G>A						RNF38_ENST00000259605.6_Silent_p.Y420Y|RNF38_ENST00000377885.2_Silent_p.Y337Y|RNF38_ENST00000353739.4_Silent_p.Y370Y|RNF38_ENST00000350199.4_Silent_p.Y337Y|RNF38_ENST00000377877.4_Silent_p.Y344Y	p.Y337Y	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		9	1617	-			420			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Silent	SNP	ENST00000259605.6	37	c.1011C>T	CCDS6603.1																																																																																				0.383	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		5	7	0	0	0	1	0	5	7				
ZNF34	80778	broad.mit.edu	37	8	145998963	145998963	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145998963G>A	ENST00000343459.4	-	6	1436	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	ZNF34_ENST00000429371.2_Silent_p.S436S			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	457					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.S457R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTGTGCTTTGGCTGAAAACTT	0.488																																						ENST00000429371.2																			1	Substitution - Missense(1)	p.S457R(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1306-1308)agC>agT		zinc finger protein 34							83.0	84.0	84.0					8																	145998963		2203	4300	6503	SO:0001819	synonymous_variant	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145998963G>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1371C>T	8.37:g.145998963G>A						ZNF34_ENST00000343459.4_Silent_p.S457S	p.S436S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1461	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	457					D3DWN1|Q9BSZ0	Silent	SNP	ENST00000343459.4	37	c.1308C>T	CCDS47945.1																																																																																				0.488	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		9	32	0	0	0	1	0	9	32				
ICAM2	3384	broad.mit.edu	37	17	62081096	62081096	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62081096C>T	ENST00000412356.1	-	5	911	c.557G>A	c.(556-558)cGc>cAc	p.R186H	ICAM2_ENST00000578379.1_Missense_Mutation_p.R85H|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.R186H|ICAM2_ENST00000418105.1_Missense_Mutation_p.R186H|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.R162H|ICAM2_ENST00000579687.1_Missense_Mutation_p.R186H|ICAM2_ENST00000449662.2_Missense_Mutation_p.R186H	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	186	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGAGAAGTTGCGGTGGCCATC	0.572																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(556-558)cGc>cAc		intercellular adhesion molecule 2							69.0	58.0	61.0					17																	62081096		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081096C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.557G>A	17.37:g.62081096C>T	ENSP00000415283:p.Arg186His					ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.R162H|ICAM2_ENST00000578379.1_Missense_Mutation_p.R85H|ICAM2_ENST00000449662.2_Missense_Mutation_p.R186H|ICAM2_ENST00000418105.1_Missense_Mutation_p.R186H|ICAM2_ENST00000579788.1_Missense_Mutation_p.R186H|ICAM2_ENST00000579687.1_Missense_Mutation_p.R186H	p.R186H	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			5	911	-			186			Ig-like C2-type 2.		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.557G>A	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	9.404	1.078714	0.20227	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.03358	3.96;3.96;3.96	5.17	-5.35	0.02697	Immunoglobulin-like fold (1);	0.706306	0.13725	N	0.367095	T	0.01092	0.0036	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43925	-0.9361	10	0.22706	T	0.39	-8.8464	3.4453	0.07478	0.1564:0.4757:0.1283:0.2396	.	186	P13598	ICAM2_HUMAN	H	186	ENSP00000415283:R186H;ENSP00000388666:R186H;ENSP00000392634:R186H	ENSP00000415283:R186H	R	-	2	0	ICAM2	59434828	0.015000	0.18098	0.012000	0.15200	0.110000	0.19582	-0.211000	0.09332	-0.652000	0.05408	-1.456000	0.01031	CGC		0.572	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			22	20	0	0	0	1	0	22	20				
NUPL1	9818	broad.mit.edu	37	13	25887831	25887831	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25887831G>A	ENST00000381736.3	+	5	766	c.516G>A	c.(514-516)ggG>ggA	p.G172G	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Silent_p.G172G|NUPL1_ENST00000381718.3_Silent_p.G160G	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	172	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TCTCTTTAGGGGGAGCCTTAG	0.388																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(514-516)ggG>ggA		nucleoporin like 1							91.0	89.0	90.0					13																	25887831		2203	4300	6503	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25887831G>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.516G>A	13.37:g.25887831G>A						NUPL1_ENST00000381736.3_Silent_p.G172G|NUPL1_ENST00000381718.3_Silent_p.G160G|NUPL1_ENST00000466694.1_3'UTR	p.G172G			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	5	659	+		Lung SC(185;0.0225)|Breast(139;0.0351)	172			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.516G>A	CCDS9314.1																																																																																				0.388	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			22	64	0	0	0	1	0	22	64				
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R112L(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111.0	106.0	107.0					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	11.37:g.36595189G>A	ENSP00000299440:p.Arg112His						p.R112H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	112			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.335G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	RAG1	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		27	36	0	0	0	1	0	27	36				
TRAF7	84231	broad.mit.edu	37	16	2225572	2225572	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2225572C>T	ENST00000326181.6	+	17	1707	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	525					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GGGTGCGGGCCCTGGTGGCTG	0.622																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1573-1575)gcC>gcT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							64.0	65.0	65.0					16																	2225572		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2225572C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1575C>T	16.37:g.2225572C>T							p.A525A	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			17	1707	+			525					Q9H073	Silent	SNP	ENST00000326181.6	37	c.1575C>T	CCDS10461.1																																																																																				0.622	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		16	28	0	0	0	1	0	16	28				
GANAB	23193	broad.mit.edu	37	11	62397885	62397885	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62397885C>A	ENST00000356638.3	-	12	1495	c.1479G>T	c.(1477-1479)cgG>cgT	p.R493R	GANAB_ENST00000540933.1_Silent_p.R396R|GANAB_ENST00000346178.4_Silent_p.R515R|GANAB_ENST00000534779.1_Silent_p.R401R|GANAB_ENST00000534422.1_5'Flank	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	493					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.R493R(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CAGAGCCATCCCGGGTTTTAA	0.597																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			1	Substitution - coding silent(1)	p.R493R(1)	ovary(1)	central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1543-1545)cgG>cgT		glucosidase, alpha; neutral AB							52.0	50.0	51.0					11																	62397885		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397885C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1479G>T	11.37:g.62397885C>A						GANAB_ENST00000534779.1_Silent_p.R401R|GANAB_ENST00000356638.3_Silent_p.R493R|GANAB_ENST00000540933.1_Silent_p.R396R	p.R515R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			13	1560	-			493					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.1545G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	6.995	0.553702	0.13374	.	.	ENSG00000089597	ENST00000540002	.	.	.	5.83	-2.23	0.06930	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.1471	1.3555	0.02181	0.2222:0.3898:0.1087:0.2792	.	.	.	.	X	79	.	.	G	-	1	0	GANAB	62154461	0.034000	0.19679	0.999000	0.59377	0.919000	0.55068	-0.724000	0.04947	0.108000	0.17862	-1.101000	0.02118	GGA		0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		16	17	1	0	2.23348e-06	1	2.32236e-06	16	17				
PER2	8864	broad.mit.edu	37	2	239167146	239167146	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239167146G>A	ENST00000254657.3	-	15	2046	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	589	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACCTGATGACGCTGTCCAAGC	0.582																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1765-1767)agC>agT		period circadian clock 2							91.0	78.0	83.0					2																	239167146		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239167146G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1767C>T	2.37:g.239167146G>A						PER2_ENST00000254658.3_3'UTR	p.S589S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	15	2046	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	589			CSNK1E binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.1767C>T	CCDS2528.1																																																																																				0.582	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		17	26	0	0	0	1	0	17	26				
CHD2	1106	broad.mit.edu	37	15	93552392	93552392	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93552392G>A	ENST00000394196.4	+	35	5499	c.4431G>A	c.(4429-4431)agG>agA	p.R1477R	CHD2_ENST00000557381.1_Silent_p.R1477R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1477					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAGGATGAGGCCCGTGAAAA	0.478																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4429-4431)agG>agA		chromodomain helicase DNA binding protein 2							106.0	86.0	92.0					15																	93552392		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93552392G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4431G>A	15.37:g.93552392G>A						CHD2_ENST00000557381.1_Silent_p.R1477R	p.R1477R	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		35	5499	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1477					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.4431G>A	CCDS10374.2																																																																																				0.478	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	9	0	0	0	1	0	4	9				
MPST	4357	broad.mit.edu	37	22	37420591	37420591	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37420591G>A	ENST00000397225.2	+	2	1250	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPST_ENST00000429360.2_Missense_Mutation_p.R112H|MPST_ENST00000397129.1_Missense_Mutation_p.R132H|MPST_ENST00000404802.3_Missense_Mutation_p.R112H|MPST_ENST00000404393.1_Missense_Mutation_p.R112H|MPST_ENST00000401419.3_Missense_Mutation_p.R112H|MPST_ENST00000341116.3_Missense_Mutation_p.R112H			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	112	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCCGCCCCGCGCGTCTGGTGG	0.716																																						ENST00000397225.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						c.(334-336)cGc>cAc		mercaptopyruvate sulfurtransferase							9.0	8.0	9.0					22																	37420591		2172	4256	6428	SO:0001583	missense	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37420591G>A	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.335G>A	22.37:g.37420591G>A	ENSP00000380402:p.Arg112His					MPST_ENST00000401419.3_Missense_Mutation_p.R112H|MPST_ENST00000341116.3_Missense_Mutation_p.R112H|MPST_ENST00000404802.3_Missense_Mutation_p.R112H|MPST_ENST00000429360.2_Missense_Mutation_p.R112H|MPST_ENST00000397129.1_Missense_Mutation_p.R132H|MPST_ENST00000404393.1_Missense_Mutation_p.R112H	p.R112H			P25325	THTM_HUMAN			2	1250	+			112			Rhodanese 1.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	c.335G>A	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757010	0.96898	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86215	0.1627	10	0.87932	D	0	-16.1129	19.7782	0.96405	0.0:0.0:1.0:0.0	.	112;112;112;112;132	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	H	112;132;112;112;112;112;112;112	ENSP00000384812:R112H;ENSP00000380318:R132H;ENSP00000383950:R112H;ENSP00000342333:R112H;ENSP00000411719:R112H;ENSP00000385062:R112H;ENSP00000380402:R112H	ENSP00000342333:R112H	R	+	2	0	MPST	35750537	1.000000	0.71417	0.543000	0.28128	0.994000	0.84299	9.457000	0.97630	2.667000	0.90743	0.561000	0.74099	CGC		0.716	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		4	7	0	0	0	1	0	4	7				
OR5W2	390148	broad.mit.edu	37	11	55681353	55681353	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55681353T>C	ENST00000344514.1	-	1	705	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGAGAGCTTTGAACCTCCCC	0.408																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(706-708)Aaa>Gaa		olfactory receptor, family 5, subfamily W, member 2							77.0	88.0	84.0					11																	55681353		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681353T>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.706A>G	11.37:g.55681353T>C	ENSP00000342448:p.Lys236Glu						p.K236E	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	705	-			236						Missense_Mutation	SNP	ENST00000344514.1	37	c.706A>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952982	0.53293	.	.	ENSG00000187612	ENST00000344514	T	0.00364	7.81	5.0	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000600	T	0.01870	0.0059	H	0.99325	4.515	0.30674	N	0.753039	D	0.64830	0.994	D	0.68765	0.96	T	0.04255	-1.0965	10	0.87932	D	0	.	10.1613	0.42853	0.0:0.0:0.1681:0.8319	.	236	Q8NH69	OR5W2_HUMAN	E	236	ENSP00000342448:K236E	ENSP00000342448:K236E	K	-	1	0	OR5W2	55437929	1.000000	0.71417	0.973000	0.42090	0.295000	0.27426	6.969000	0.76092	0.727000	0.32360	0.443000	0.29094	AAA		0.408	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	32	0	0	0	1	0	8	32				
IFT122	55764	broad.mit.edu	37	3	129188250	129188250	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129188250G>A	ENST00000348417.2	+	9	883	c.806G>A	c.(805-807)aGt>aAt	p.S269N	IFT122_ENST00000440957.2_Missense_Mutation_p.S60N|IFT122_ENST00000349441.2_Missense_Mutation_p.S158N|IFT122_ENST00000431818.2_Missense_Mutation_p.S119N|IFT122_ENST00000507564.1_Missense_Mutation_p.S261N|IFT122_ENST00000504021.1_Missense_Mutation_p.S163N|IFT122_ENST00000347300.2_Missense_Mutation_p.S210N|IFT122_ENST00000296266.3_Missense_Mutation_p.S320N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	269					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TACCAGCTGAGTGGAAAACAG	0.388																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(958-960)aGt>aAt		intraflagellar transport 122 homolog (Chlamydomonas)							129.0	127.0	128.0					3																	129188250		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129188250G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.806G>A	3.37:g.129188250G>A	ENSP00000324005:p.Ser269Asn					IFT122_ENST00000349441.2_Missense_Mutation_p.S158N|IFT122_ENST00000347300.2_Missense_Mutation_p.S210N|IFT122_ENST00000348417.2_Missense_Mutation_p.S269N|IFT122_ENST00000440957.2_Missense_Mutation_p.S60N|IFT122_ENST00000504021.1_Missense_Mutation_p.S163N|IFT122_ENST00000507564.1_Missense_Mutation_p.S261N|IFT122_ENST00000431818.2_Missense_Mutation_p.S119N	p.S320N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			10	1151	+			269					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.959G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280737	0.59758	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000511498	T;T;T;D;T;T;T;D;T	0.89939	-0.21;1.57;1.57;-2.59;1.61;1.61;-0.21;-2.59;2.24	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	N	0.17082	0.46	0.80722	D	1	D;D;B;B;B;B;D;D	0.67145	0.996;0.985;0.196;0.046;0.046;0.044;0.993;0.996	D;D;B;B;B;B;D;D	0.75484	0.986;0.921;0.047;0.034;0.023;0.051;0.968;0.986	D	0.88980	0.3407	10	0.31617	T	0.26	-14.707	20.2422	0.98381	0.0:0.0:1.0:0.0	.	60;261;163;109;158;210;269;320	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	N	210;320;261;210;119;163;158;269;109;60;60	ENSP00000323973:S210N;ENSP00000296266:S320N;ENSP00000425536:S261N;ENSP00000410946:S119N;ENSP00000422179:S163N;ENSP00000324165:S158N;ENSP00000324005:S269N;ENSP00000401569:S60N;ENSP00000422237:S60N	ENSP00000296266:S320N	S	+	2	0	IFT122	130670940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.469000	0.97679	2.782000	0.95742	0.655000	0.94253	AGT		0.388	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		27	41	0	0	0	1	0	27	41				
MDC1	9656	broad.mit.edu	37	6	30680817	30680817	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30680817G>A	ENST00000376406.3	-	5	1549	c.902C>T	c.(901-903)aCa>aTa	p.T301I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.T301I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	301	Required for nuclear localization (NLS1).				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)			breast(2)|kidney(1)|ovary(1)	4						ATCCACATCTGTGTCACTGTC	0.552								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(901-903)aCa>aTa	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							143.0	123.0	130.0					6																	30680817		1511	2708	4219	SO:0001583	missense	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.chr6:30680817G>A	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.902C>T	6.37:g.30680817G>A	ENSP00000365588:p.Thr301Ile					MDC1_ENST00000376405.2_Missense_Mutation_p.T301I|MDC1-AS1_ENST00000442150.1_RNA	p.T301I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	1549	-			301			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.902C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505592	0.85282	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.08008	3.17;3.14	5.29	5.29	0.74685	.	0.000000	0.39985	N	0.001203	T	0.21062	0.0507	M	0.74881	2.28	0.42638	D	0.993407	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.83275	0.982;0.936;0.996	T	0.00146	-1.1991	10	0.87932	D	0	-13.1458	14.2988	0.66331	0.0:0.0:1.0:0.0	.	301;173;301	Q14676-2;B4DYH4;Q14676	.;.;MDC1_HUMAN	I	301;301;301;173	ENSP00000365588:T301I;ENSP00000365587:T301I	ENSP00000365587:T301I	T	-	2	0	MDC1	30788796	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.328000	0.72915	2.756000	0.94617	0.561000	0.74099	ACA		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		27	50	0	0	0	1	0	27	50				
ATP6V0A2	23545	broad.mit.edu	37	12	124241427	124241427	+	Missense_Mutation	SNP	G	G	A	rs374221951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124241427G>A	ENST00000330342.3	+	19	2607	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.V69I|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	787					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CACCTATGGCGTCTTGCTACT	0.552																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2359-2361)Gtc>Atc		ATPase, H+ transporting, lysosomal V0 subunit a2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	230.0	177.0	195.0		2359	4.8	0.6	12		195	0,8600		0,0,4300	no	missense	ATP6V0A2	NM_012463.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	787/857	124241427	1,13005	2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124241427G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2359G>A	12.37:g.124241427G>A	ENSP00000332247:p.Val787Ile					ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.V69I	p.V787I	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	19	2607	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		787					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2359G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.714059	0.03206	2.27E-4	0.0	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.87412	-2.25;-2.25;-2.25	5.71	4.82	0.62117	.	0.160189	0.56097	D	0.000031	T	0.77824	0.4188	N	0.25426	0.745	0.36556	D	0.872154	P	0.35959	0.53	B	0.34180	0.177	T	0.77824	-0.2444	10	0.21540	T	0.41	-31.9288	11.7064	0.51599	0.1411:0.0:0.8589:0.0	.	787	Q9Y487	VPP2_HUMAN	I	787;67;69	ENSP00000332247:V787I;ENSP00000443726:V67I;ENSP00000441143:V69I	ENSP00000332247:V787I	V	+	1	0	ATP6V0A2	122807380	0.988000	0.35896	0.580000	0.28601	0.011000	0.07611	1.943000	0.40253	1.419000	0.47118	-0.136000	0.14681	GTC		0.552	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		42	51	0	0	0	1	0	42	51				
FLNB	2317	broad.mit.edu	37	3	58080667	58080667	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58080667G>A	ENST00000295956.4	+	5	1057	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	FLNB_ENST00000429972.2_Missense_Mutation_p.G298R|FLNB_ENST00000493452.1_Missense_Mutation_p.G129R|FLNB_ENST00000358537.3_Missense_Mutation_p.G298R|FLNB_ENST00000357272.4_Missense_Mutation_p.G298R|FLNB_ENST00000348383.5_Missense_Mutation_p.G298R|FLNB_ENST00000419752.2_Missense_Mutation_p.G129R|FLNB_ENST00000490882.1_Missense_Mutation_p.G298R	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	298					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACCCAGAAGGGAACAAAGA	0.557																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(892-894)Ggg>Agg		filamin B, beta							211.0	191.0	198.0					3																	58080667		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58080667G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.892G>A	3.37:g.58080667G>A	ENSP00000295956:p.Gly298Arg					FLNB_ENST00000490882.1_Missense_Mutation_p.G298R|FLNB_ENST00000295956.4_Missense_Mutation_p.G298R|FLNB_ENST00000493452.1_Missense_Mutation_p.G129R|FLNB_ENST00000358537.3_Missense_Mutation_p.G298R|FLNB_ENST00000429972.2_Missense_Mutation_p.G298R|FLNB_ENST00000419752.2_Missense_Mutation_p.G129R|FLNB_ENST00000348383.5_Missense_Mutation_p.G298R	p.G298R			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	5	1057	+			298					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.892G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296386	0.95574	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.66	5.66	0.87406	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.049572	0.85682	D	0.000000	D	0.88923	0.6569	M	0.93375	3.41	0.80722	D	1	D;D;D;P;D;D	0.89917	0.995;1.0;0.998;0.511;0.996;0.996	D;D;D;B;D;D	0.79108	0.97;0.992;0.983;0.287;0.983;0.983	D	0.90873	0.4747	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	298;298;129;129;298;298	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	R	298;298;298;298;298;298;129;129	ENSP00000295956:G298R;ENSP00000420213:G298R;ENSP00000351339:G298R;ENSP00000415599:G298R;ENSP00000232447:G298R;ENSP00000349819:G298R;ENSP00000418510:G129R;ENSP00000414532:G129R	ENSP00000295956:G298R	G	+	1	0	FLNB	58055707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.797000	0.99108	2.832000	0.97577	0.655000	0.94253	GGG		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		22	51	0	0	0	1	0	22	51				
CYTL1	54360	broad.mit.edu	37	4	5016936	5016936	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5016936C>T	ENST00000307746.4	-	4	379	c.353G>A	c.(352-354)tGc>tAc	p.C118Y		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	118					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CAAGGCATTGCAGTCATCCAA	0.478																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(352-354)tGc>tAc		cytokine-like 1							125.0	107.0	113.0					4																	5016936		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016936C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.353G>A	4.37:g.5016936C>T	ENSP00000303550:p.Cys118Tyr						p.C118Y	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	379	-			118						Missense_Mutation	SNP	ENST00000307746.4	37	c.353G>A	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.340700|2.340700	0.41498|0.41498	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000509419|ENST00000307746	.|T	.|0.60920	.|0.15	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.80183|0.80183	2.485|2.485	0.50039|0.50039	D|D	0.99984|0.99984	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.79509|0.79509	-0.1774|-0.1774	5|10	.|0.87932	.|D	.|0	-26.8952|-26.8952	12.6303|12.6303	0.56653|0.56653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|118	.|Q9NRR1	.|CYTL1_HUMAN	T|Y	74|118	.|ENSP00000303550:C118Y	.|ENSP00000303550:C118Y	A|C	-|-	1|2	0|0	CYTL1|CYTL1	5067837|5067837	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.152000|0.152000	0.21847|0.21847	3.648000|3.648000	0.54410|0.54410	2.022000|2.022000	0.59522|0.59522	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.478	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		29	51	0	0	0	1	0	29	51				
LRRC8C	84230	broad.mit.edu	37	1	90179785	90179785	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90179785C>T	ENST00000370454.4	+	3	1911	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	552					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCAAAAGCAACGTTTCCAAAA	0.428																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1654-1656)aaC>aaT		leucine rich repeat containing 8 family, member C							71.0	74.0	73.0					1																	90179785		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179785C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1656C>T	1.37:g.90179785C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.N552N	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1911	+		all_lung(203;0.126)	552					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.1656C>T	CCDS725.1																																																																																				0.428	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		25	51	0	0	0	1	0	25	51				
PCLO	27445	broad.mit.edu	37	7	82595421	82595421	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82595421C>T	ENST00000333891.9	-	4	4020	c.3683G>A	c.(3682-3684)cGt>cAt	p.R1228H	PCLO_ENST00000423517.2_Missense_Mutation_p.R1228H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTCAGAACGTATCTTTTC	0.393																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3682-3684)cGt>cAt		piccolo presynaptic cytomatrix protein							204.0	196.0	199.0					7																	82595421		1799	4068	5867	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595421C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3683G>A	7.37:g.82595421C>T	ENSP00000334319:p.Arg1228His					PCLO_ENST00000333891.8_Missense_Mutation_p.R1228H	p.R1228H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4020	-			1167						Missense_Mutation	SNP	ENST00000333891.9	37	c.3683G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.797882	0.16327	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.36	3.47	-4.28	0.03732	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P;P	0.44044	0.825;0.825	B;B	0.33890	0.172;0.172	T	0.29549	-1.0008	9	0.87932	D	0	.	7.5442	0.27757	0.2406:0.4558:0.3036:0.0	.	1228;1228	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1167;1228;1228	ENSP00000334319:R1228H;ENSP00000388393:R1228H	ENSP00000334319:R1228H	R	-	2	0	PCLO	82433357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.424000	0.07025	-1.023000	0.03342	-0.165000	0.13383	CGT		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		65	80	0	0	0	1	0	65	80				
ADAMTS9	56999	broad.mit.edu	37	3	64527080	64527080	+	Missense_Mutation	SNP	G	G	A	rs200398762		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:64527080G>A	ENST00000498707.1	-	35	5645	c.5303C>T	c.(5302-5304)gCg>gTg	p.A1768V	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1768	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGCATCCCCGCACAGAATAT	0.463																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5302-5304)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 9		G	VAL/ALA	0,4406		0,0,2203	126.0	131.0	129.0		5303	5.8	1.0	3		129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADAMTS9	NM_182920.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1768/1936	64527080	1,13005	2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527080G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5303C>T	3.37:g.64527080G>A	ENSP00000418735:p.Ala1768Val					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1740V	p.A1768V	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5645	-		Lung NSC(201;0.00682)	1768			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5303C>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.225799|5.225799	0.95173|0.95173	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.18810|.	2.19;2.19|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Peptidase M12B, GON-ADAMTSs (2);|.	0.061316|.	0.64402|.	D|.	0.000005|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	P;P|.	0.41345|.	0.746;0.746|.	P;P|.	0.46850|.	0.529;0.473|.	T|T	0.74393|0.74393	-0.3680|-0.3680	10|5	0.41790|.	T|.	0.15|.	.|.	19.942|19.942	0.97168|0.97168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1740;1768|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	V|W	1740;1768|824	ENSP00000295903:A1740V;ENSP00000418735:A1768V|.	ENSP00000295903:A1740V|.	A|R	-|-	2|1	0|2	ADAMTS9|ADAMTS9	64502120|64502120	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.897000|0.897000	0.52465|0.52465	7.126000|7.126000	0.77201|0.77201	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			30	44	0	0	0	1	0	30	44				
MIR518C	574477	broad.mit.edu	37	19	54214334	54214334	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54214334G>A	ENST00000384822.1	+	0	101				MIR517A_ENST00000385001.1_RNA|MIR519D_ENST00000385246.1_RNA|MIR524_ENST00000385242.1_RNA	NR_030199.1				microRNA 518c																		GGAGTGTTACGGTTTGAGAAA	0.463																																						ENST00000385242.1																			0																				102.0	94.0	97.0					19																	54214334		1568	3582	5150			0							g.chr19:54214334G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207553	ENSG00000207553		"""ncRNAs / Micro RNAs"""	32109	non-coding RNA	RNA, micro				MIRN518C			Standard	NR_030199		Approved	hsa-mir-518c	uc021vac.1				19.37:g.54214334G>A								NR_030200.1						0	79	+									RNA	SNP	ENST00000384822.1	37																																																																																						0.463	MIR518C-201	KNOWN	basic	miRNA	miRNA		NR_030199		10	81	0	0	0	1	0	10	81				
PPM1A	5494	broad.mit.edu	37	14	60750032	60750032	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:60750032G>C	ENST00000395076.4	+	2	1041	c.611G>C	c.(610-612)tGt>tCt	p.C204S	PPM1A_ENST00000529574.1_Missense_Mutation_p.C204S|PPM1A_ENST00000325642.3_Missense_Mutation_p.C277S|PPM1A_ENST00000325658.3_Missense_Mutation_p.C204S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	204					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GATTACAAATGTGTCCATGGA	0.448																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(610-612)tGt>tCt		protein phosphatase, Mg2+/Mn2+ dependent, 1A							124.0	115.0	118.0					14																	60750032		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60750032G>C	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.611G>C	14.37:g.60750032G>C	ENSP00000378514:p.Cys204Ser					PPM1A_ENST00000325642.3_Missense_Mutation_p.C277S|PPM1A_ENST00000529574.1_Missense_Mutation_p.C204S|PPM1A_ENST00000325658.3_Missense_Mutation_p.C204S	p.C204S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	2	1041	+			204					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.611G>C	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176512	0.21704	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.12887	0.27	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.12837	0.008;0.003;0.008	T	0.17623	-1.0363	10	0.09338	T	0.73	-3.3403	19.8148	0.96562	0.0:0.0:1.0:0.0	.	204;204;204	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	S	277;204;204;204	ENSP00000327255:C277S;ENSP00000432966:C204S;ENSP00000378514:C204S;ENSP00000314850:C204S	ENSP00000327255:C277S	C	+	2	0	PPM1A	59819785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.685000	0.91497	0.585000	0.79938	TGT		0.448	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		32	32	0	0	0	1	0	32	32				
PTTG1	9232	broad.mit.edu	37	5	159854762	159854762	+	Silent	SNP	G	G	A	rs370650306		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159854762G>A	ENST00000393964.1	+	4	814	c.411G>A	c.(409-411)gcG>gcA	p.A137A	PTTG1_ENST00000520452.1_Silent_p.A137A|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.A137A	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACCAGATTGCGCACCTCCCCT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19596	0.0		0.0	False		,,,				2504	0.001					ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(409-411)gcG>gcA		pituitary tumor-transforming 1		G		0,4406		0,0,2203	105.0	98.0	100.0		411	-6.1	0.0	5		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTTG1	NM_004219.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/203	159854762	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159854762G>A	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.411G>A	5.37:g.159854762G>A						PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.A137A|PTTG1_ENST00000520452.1_Silent_p.A137A	p.A137A			O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	4	814	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	137						Silent	SNP	ENST00000393964.1	37	c.411G>A	CCDS4353.1																																																																																				0.522	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		30	39	0	0	0	1	0	30	39				
DDR2	4921	broad.mit.edu	37	1	162725543	162725543	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162725543G>A	ENST00000367922.3	+	8	1093	c.655G>A	c.(655-657)Gga>Aga	p.G219R	DDR2_ENST00000367921.3_Missense_Mutation_p.G219R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	219					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGTCTATGATGGAGCTGTTGG	0.398																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(655-657)Gga>Aga		discoidin domain receptor tyrosine kinase 2							130.0	127.0	128.0					1																	162725543		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162725543G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.655G>A	1.37:g.162725543G>A	ENSP00000356899:p.Gly219Arg					DDR2_ENST00000367921.3_Missense_Mutation_p.G219R	p.G219R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		8	1093	+	all_hematologic(112;0.115)		219					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.655G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511190	0.85389	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.27256	1.68;1.68	5.81	4.88	0.63580	.	0.103853	0.64402	D	0.000003	T	0.49864	0.1582	M	0.89601	3.045	0.41937	D	0.990593	D	0.89917	1.0	D	0.97110	1.0	T	0.65446	-0.6166	9	0.87932	D	0	.	14.7694	0.69665	0.0:0.0:0.8544:0.1456	.	219	Q16832	DDR2_HUMAN	R	219	ENSP00000356899:G219R;ENSP00000356898:G219R	ENSP00000356898:G219R	G	+	1	0	DDR2	160992167	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.033000	0.93741	1.411000	0.46957	0.650000	0.86243	GGA		0.398	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		55	78	0	0	0	1	0	55	78				
APRT	353	broad.mit.edu	37	16	88873803	88873803	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88873803G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.V464I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GCTGCGGAGCGTCTTTGTGTC	0.652																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1390-1392)Gtc>Atc		chromatin licensing and DNA replication factor 1							48.0	42.0	44.0					16																	88873803		2196	4300	6496	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873803G>A		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873803G>A							p.V464I	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	2009	+			464					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1390G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239460	0.22711	.	.	ENSG00000167513	ENST00000301019	T	0.79141	-1.24	5.58	-2.51	0.06365	.	0.340710	0.29646	N	0.011567	T	0.63271	0.2497	L	0.33245	0.995	0.40760	D	0.982997	B	0.17038	0.02	B	0.12837	0.008	T	0.47407	-0.9120	10	0.23302	T	0.38	-22.7728	14.1033	0.65072	0.1959:0.0:0.8041:0.0	.	464	Q9H211	CDT1_HUMAN	I	464	ENSP00000301019:V464I	ENSP00000301019:V464I	V	+	1	0	CDT1	87401304	0.383000	0.25156	0.000000	0.03702	0.012000	0.07955	0.680000	0.25306	-0.481000	0.06792	0.563000	0.77884	GTC		0.652	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		8	39	0	0	0	1	0	8	39				
CNPY4	245812	broad.mit.edu	37	7	99722481	99722481	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99722481C>T	ENST00000262932.3	+	6	849	c.717C>T	c.(715-717)agC>agT	p.S239S	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	239						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGACAGGAAGCCACCCCAAAC	0.557																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(715-717)agC>agT		canopy FGF signaling regulator 4							167.0	153.0	158.0					7																	99722481		2203	4300	6503	SO:0001819	synonymous_variant	245812					extracellular region		g.chr7:99722481C>T	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.717C>T	7.37:g.99722481C>T						CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.S239S	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			6	849	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		239					Q8WUN9	Silent	SNP	ENST00000262932.3	37	c.717C>T	CCDS34701.1																																																																																				0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		8	46	0	0	0	1	0	8	46				
DAAM2	23500	broad.mit.edu	37	6	39864692	39864692	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:39864692G>A	ENST00000398904.2	+	20	2628	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.G816S|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.G816S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	816	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGCGTGGGGGCGCCTACGG	0.612																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(2446-2448)Ggc>Agc		dishevelled associated activator of morphogenesis 2							35.0	42.0	39.0					6																	39864692		2016	4160	6176	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864692G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2446G>A	6.37:g.39864692G>A	ENSP00000381876:p.Gly816Ser					RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.G816S|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.G816S	p.G816S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			20	2628	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		816			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2446G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203113	0.58234	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.62639	0.01;0.01;0.01	4.66	2.85	0.33270	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.197836	0.44688	N	0.000426	T	0.29423	0.0733	L	0.27975	0.815	0.80722	D	1	B;B	0.31790	0.34;0.213	B;B	0.33846	0.171;0.137	T	0.17289	-1.0374	10	0.59425	D	0.04	.	6.4625	0.21964	0.3722:0.0:0.6278:0.0	.	816;816	G5EA45;Q86T65	.;DAAM2_HUMAN	S	816	ENSP00000274867:G816S;ENSP00000381876:G816S;ENSP00000437808:G816S	ENSP00000274867:G816S	G	+	1	0	DAAM2	39972670	1.000000	0.71417	0.922000	0.36590	0.918000	0.54935	5.268000	0.65536	0.579000	0.29504	0.561000	0.74099	GGC		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			12	13	0	0	0	1	0	12	13				
EVPL	2125	broad.mit.edu	37	17	74019483	74019483	+	Missense_Mutation	SNP	C	C	T	rs375730697		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74019483C>T	ENST00000301607.3	-	4	623	c.370G>A	c.(370-372)Gag>Aag	p.E124K	EVPL_ENST00000586740.1_Missense_Mutation_p.E124K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	124	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTCACCCGCTCGTGCAGCTGC	0.677																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(370-372)Gag>Aag		envoplakin		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64.0	69.0	67.0		370	3.7	1.0	17		67	0,8598		0,0,4299	no	missense	EVPL	NM_001988.2	56	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	124/2034	74019483	1,13003	2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019483C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.370G>A	17.37:g.74019483C>T	ENSP00000301607:p.Glu124Lys					EVPL_ENST00000586740.1_Missense_Mutation_p.E124K	p.E124K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			4	623	-			124			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.370G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998991	0.74818	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.18960	2.18	4.66	3.68	0.42216	.	0.248311	0.38778	N	0.001571	T	0.19525	0.0469	L	0.52905	1.665	0.48571	D	0.999674	P;B	0.41498	0.752;0.32	B;B	0.31495	0.131;0.036	T	0.08046	-1.0741	10	0.72032	D	0.01	-33.2038	15.1453	0.72647	0.0:0.8581:0.1419:0.0	.	124;124	B7ZLH8;Q92817	.;EVPL_HUMAN	K	124	ENSP00000301607:E124K	ENSP00000301607:E124K	E	-	1	0	EVPL	71531078	0.998000	0.40836	0.996000	0.52242	0.998000	0.95712	3.948000	0.56660	1.070000	0.40811	0.561000	0.74099	GAG		0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		30	27	0	0	0	1	0	30	27				
MYBL2	4605	broad.mit.edu	37	20	42315709	42315709	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42315709G>T	ENST00000217026.4	+	5	624	c.497G>T	c.(496-498)gGg>gTg	p.G166V	MYBL2_ENST00000396863.4_Missense_Mutation_p.G142V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	166	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGTTGCCAGGGAGGTAAGCT	0.617																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(496-498)gGg>gTg		v-myb avian myeloblastosis viral oncogene homolog-like 2							27.0	23.0	24.0					20																	42315709		2203	4297	6500	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42315709G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.497G>T	20.37:g.42315709G>T	ENSP00000217026:p.Gly166Val					MYBL2_ENST00000396863.4_Missense_Mutation_p.G142V	p.G166V	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		5	624	+		Myeloproliferative disorder(115;0.00452)	166			HTH myb-type 3.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.497G>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509504	0.85282	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.57107	1.79;0.42	5.1	5.1	0.69264	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	H	0.99104	4.43	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.924	D	0.91308	0.5072	10	0.87932	D	0	-43.1245	17.6578	0.88182	0.0:0.0:1.0:0.0	.	142;166	F8W6N6;P10244	.;MYBB_HUMAN	V	142;166	ENSP00000380072:G142V;ENSP00000217026:G166V	ENSP00000217026:G166V	G	+	2	0	MYBL2	41749123	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	9.726000	0.98782	2.538000	0.85594	0.462000	0.41574	GGG		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		11	10	1	0	2.68362e-12	1	2.90084e-12	11	10				
RNF14	9604	broad.mit.edu	37	5	141359810	141359810	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141359810G>A	ENST00000394520.2	+	6	1266	c.957G>A	c.(955-957)atG>atA	p.M319I	RNF14_ENST00000394515.3_Missense_Mutation_p.M143I|RNF14_ENST00000356143.1_Missense_Mutation_p.M319I|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Missense_Mutation_p.M193I|RNF14_ENST00000347642.3_Missense_Mutation_p.M319I|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Missense_Mutation_p.M319I	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	319					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCCTGTGATGCAGGAACCTG	0.562																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(955-957)atG>atA		ring finger protein 14							106.0	92.0	97.0					5																	141359810		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141359810G>A	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.957G>A	5.37:g.141359810G>A	ENSP00000378028:p.Met319Ile					RNF14_ENST00000394514.2_Missense_Mutation_p.M193I|RNF14_ENST00000394519.1_Missense_Mutation_p.M319I|RNF14_ENST00000347642.3_Missense_Mutation_p.M319I|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.M319I|RNF14_ENST00000394515.3_Missense_Mutation_p.M143I	p.M319I	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1266	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	319					A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.957G>A	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748813	0.69533	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000394514;ENST00000394515;ENST00000394519	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	4.99	4.99	0.66335	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.35854	1.095	0.80722	D	1	B;B	0.20988	0.05;0.008	B;B	0.24701	0.055;0.027	T	0.42207	-0.9465	10	0.18710	T	0.47	.	18.6532	0.91439	0.0:0.0:1.0:0.0	.	143;319	B7Z229;Q9UBS8	.;RNF14_HUMAN	I	319;319;319;193;143;319	ENSP00000348462:M319I;ENSP00000378028:M319I;ENSP00000324956:M319I;ENSP00000378022:M193I;ENSP00000378023:M143I;ENSP00000378027:M319I	ENSP00000324956:M319I	M	+	3	0	RNF14	141339994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.618000	0.74214	2.480000	0.83734	0.650000	0.86243	ATG		0.562	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		37	65	0	0	0	1	0	37	65				
GUCY2D	3000	broad.mit.edu	37	17	7907408	7907408	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7907408C>T	ENST00000254854.4	+	3	1110	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	320					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CTGAAGGCAGCGTGCTGGACA	0.682																																						ENST00000254854.4																			0				skin(1)	1						c.(958-960)agC>agT		guanylate cyclase 2D, membrane (retina-specific)							35.0	39.0	38.0					17																	7907408		2203	4299	6502	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907408C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.960C>T	17.37:g.7907408C>T							p.S320S	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			3	1110	+		Prostate(122;0.157)	320					Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.960C>T	CCDS11127.1																																																																																				0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			18	17	0	0	0	1	0	18	17				
C15orf54	400360	broad.mit.edu	37	15	39544513	39544513	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(175-177)acG>acA		chromosome 15 open reading frame 54							249.0	250.0	249.0					15																	39544513		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544513G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.177G>A	15.37:g.39544513G>A						RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	545	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	59		T -> M (in dbSNP:rs11853050).			B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.177G>A	CCDS10049.1																																																																																				0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		5	199	0	0	0	1	0	5	199				
RASSF9	9182	broad.mit.edu	37	12	86198613	86198613	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86198613C>T	ENST00000361228.3	-	2	1543	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	392					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAATCTCCCCATTGCTACT	0.443																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1174-1176)gGg>gAg		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							180.0	173.0	175.0					12																	86198613		1923	4144	6067	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198613C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1175G>A	12.37:g.86198613C>T	ENSP00000354884:p.Gly392Glu						p.G392E	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1543	-			392					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1175G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.858911	0.00065	.	.	ENSG00000198774	ENST00000361228	T	0.42131	0.98	5.1	-3.83	0.04269	.	1.150710	0.06500	N	0.736124	T	0.17619	0.0423	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22836	-1.0205	10	0.07813	T	0.8	-18.8667	2.5294	0.04699	0.1468:0.33:0.0904:0.4328	.	392	O75901	RASF9_HUMAN	E	392	ENSP00000354884:G392E	ENSP00000354884:G392E	G	-	2	0	RASSF9	84722744	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.012000	0.01451	-0.340000	0.08388	-0.145000	0.13849	GGG		0.443	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			6	126	0	0	0	1	0	6	126				
GIGYF1	64599	broad.mit.edu	37	7	100279357	100279357	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100279357G>A	ENST00000275732.5	-	24	4302	c.3093C>T	c.(3091-3093)agC>agT	p.S1031S		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	1031					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)					AGTCATCCACGCTCTCGATCT	0.677																																						ENST00000275732.5																			0				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						c.(3091-3093)agC>agT		GRB10 interacting GYF protein 1							38.0	39.0	38.0					7																	100279357		2202	4300	6502	SO:0001819	synonymous_variant	64599							g.chr7:100279357G>A	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.3093C>T	7.37:g.100279357G>A							p.S1031S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			24	4302	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		1031					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.3093C>T	CCDS34708.1																																																																																				0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	10	0	0	0	1	0	8	10				
LY6D	8581	broad.mit.edu	37	8	143866833	143866833	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:143866833G>A	ENST00000301263.4	-	3	266	c.191C>T	c.(190-192)gCg>gTg	p.A64V	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	64	UPAR/Ly6.				cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCACGACTCCGCACAGTCCTT	0.642																																						ENST00000301263.4																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(190-192)gCg>gTg		lymphocyte antigen 6 complex, locus D							68.0	59.0	62.0					8																	143866833		2203	4300	6503	SO:0001583	missense	8581				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	g.chr8:143866833G>A	U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.191C>T	8.37:g.143866833G>A	ENSP00000301263:p.Ala64Val					RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	p.A64V	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN			3	266	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		64			UPAR/Ly6.		B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Missense_Mutation	SNP	ENST00000301263.4	37	c.191C>T	CCDS6390.1	.	.	.	.	.	.	.	.	.	.	g	4.324	0.059563	0.08339	.	.	ENSG00000167656	ENST00000301263	T	0.71103	-0.54	3.14	-5.45	0.02616	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.568970	0.13390	N	0.391507	T	0.34106	0.0886	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.42749	-0.9433	10	0.02654	T	1	-3.3817	6.5761	0.22567	0.1635:0.0:0.7024:0.1341	.	64	Q14210	LY6D_HUMAN	V	64	ENSP00000301263:A64V	ENSP00000301263:A64V	A	-	2	0	LY6D	143863835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.868000	0.01644	-1.119000	0.02958	-1.244000	0.01528	GCG		0.642	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379774.1	NM_003695		7	16	0	0	0	1	0	7	16				
UBXN6	80700	broad.mit.edu	37	19	4454004	4454004	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4454004G>A	ENST00000301281.6	-	2	294	c.170C>T	c.(169-171)gCt>gTt	p.A57V	UBXN6_ENST00000394765.3_Missense_Mutation_p.A4V|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	57						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TAGGGCGGCAGCGGCTGCCAT	0.682																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(169-171)gCt>gTt		UBX domain protein 6							68.0	85.0	79.0					19																	4454004		2203	4299	6502	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454004G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.170C>T	19.37:g.4454004G>A	ENSP00000301281:p.Ala57Val					UBXN6_ENST00000394765.3_Missense_Mutation_p.A4V	p.A57V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	294	-			57					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.170C>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690347	0.88735	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.33865	1.78;1.39	4.24	4.24	0.50183	.	0.000000	0.85682	U	0.000000	T	0.62060	0.2397	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.87578	0.998;0.651	T	0.68191	-0.5474	10	0.56958	D	0.05	-10.0983	15.6441	0.77033	0.0:0.0:1.0:0.0	.	4;57	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	57;4	ENSP00000301281:A57V;ENSP00000378246:A4V	ENSP00000301281:A57V	A	-	2	0	UBXN6	4405004	1.000000	0.71417	0.035000	0.18076	0.886000	0.51366	8.652000	0.91083	1.915000	0.55452	0.491000	0.48974	GCT		0.682	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		36	61	0	0	0	1	0	36	61				
AADACL4	343066	broad.mit.edu	37	1	12721814	12721814	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12721814G>A	ENST00000376221.1	+	3	398	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	133						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGTTACCATGGCCTGTGCAAT	0.522																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(397-399)gGc>gAc		arylacetamide deacetylase-like 4							257.0	242.0	247.0					1																	12721814		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12721814G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.398G>A	1.37:g.12721814G>A	ENSP00000365395:p.Gly133Asp						p.G133D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	398	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	133						Missense_Mutation	SNP	ENST00000376221.1	37	c.398G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	3.322	-0.138590	0.06669	.	.	ENSG00000204518	ENST00000376221	T	0.58506	0.33	3.86	-3.89	0.04193	Alpha/beta hydrolase fold-3 (1);	0.952597	0.08840	N	0.886006	T	0.39436	0.1078	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.31024	-0.9958	10	0.12766	T	0.61	-12.6952	6.0132	0.19588	0.5524:0.1374:0.3102:0.0	.	133	Q5VUY2	ADCL4_HUMAN	D	133	ENSP00000365395:G133D	ENSP00000365395:G133D	G	+	2	0	AADACL4	12644401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.420000	0.02457	-0.804000	0.04410	-0.291000	0.09656	GGC		0.522	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		38	72	0	0	0	1	0	38	72				
RIMKLA	284716	broad.mit.edu	37	1	42880423	42880423	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42880423G>A	ENST00000431473.3	+	5	1083	c.954G>A	c.(952-954)tcG>tcA	p.S318S		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	318					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGGACTGTCGAGTCCAAGGG	0.522																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(952-954)tcG>tcA		ribosomal modification protein rimK-like family member A							103.0	93.0	97.0					1																	42880423		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880423G>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.954G>A	1.37:g.42880423G>A							p.S318S	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1083	+			318					Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.954G>A	CCDS466.2																																																																																				0.522	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		21	28	0	0	0	1	0	21	28				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819813	74819813	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74819813G>T	ENST00000370899.3	+	13	1517	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.G507W|TNNI3K_ENST00000370891.2_Splice_Site_p.G494W|TNNI3K_ENST00000326637.3_Splice_Site_p.G393W|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.G494W	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTATGAAAAAGGTATATTTTT	0.378																																						ENST00000370895.1																			0											c.e13+1									123.0	120.0	121.0					1																	74819813		2203	4300	6503	SO:0001630	splice_region_variant	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74819813G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1480+1G>T	1.37:g.74819813G>T						TNNI3K_ENST00000370891.2_Splice_Site_p.G494_splice|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G494_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.G494_splice|TNNI3K_ENST00000326637.3_Splice_Site_p.G393_splice	p.G494_splice			Q59H18	TNI3K_HUMAN			13	1515	+			393			Protein kinase.			Splice_Site	SNP	ENST00000370899.3	37	c.1480_splice		.	.	.	.	.	.	.	.	.	.	G	24.2	4.500450	0.85176	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	H	0.94423	3.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75051	-0.3454	10	0.87932	D	0	.	18.7504	0.91812	0.0:0.0:1.0:0.0	.	393;494;494;494	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	W	494;494;494;494;393	ENSP00000359936:G494W;ENSP00000359932:G494W;ENSP00000450895:G494W;ENSP00000359928:G494W;ENSP00000322251:G393W	ENSP00000322251:G393W	G	+	1	0	RP11-653A5.2;AC093158.1	74592401	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.202000	0.95026	2.658000	0.90341	0.655000	0.94253	GGG		0.378	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Missense_Mutation	13	65	1	0	1.5739e-10	1	1.6844e-10	13	65				
LOC101927209	101927209	broad.mit.edu	37	1	142713334	142713334	+	lincRNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:142713334C>A	ENST00000610091.1	-	0	2324																											CTGAGAGTATCTCTTTTCTTA	0.328																																						ENST00000369381.2																			0																																																			0							g.chr1:142713334C>A																													1.37:g.142713334C>A														0	1271	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.328	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			13	17	1	0	6.81908e-15	1	7.45441e-15	13	17				
ALX4	60529	broad.mit.edu	37	11	44286443	44286443	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:44286443C>A	ENST00000329255.3	-	4	1300	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	399					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTCCTTGGCCTTCATGCGGA	0.667																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1195-1197)aaG>aaT		ALX homeobox 4							50.0	43.0	46.0					11																	44286443		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44286443C>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1197G>T	11.37:g.44286443C>A	ENSP00000332744:p.Lys399Asn						p.K399N	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1300	-			399					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1197G>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630838	0.67015	.	.	ENSG00000052850	ENST00000329255	D	0.99598	-6.26	5.19	3.31	0.37934	Paired-like homeodomain protein, OAR (2);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.69823	2.125	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.99564	1.0969	10	0.87932	D	0	.	8.5866	0.33662	0.0:0.6371:0.0:0.3629	.	399	Q9H161	ALX4_HUMAN	N	399	ENSP00000332744:K399N	ENSP00000332744:K399N	K	-	3	2	ALX4	44243019	0.973000	0.33851	1.000000	0.80357	0.972000	0.66771	0.152000	0.16302	0.683000	0.31428	0.561000	0.74099	AAG		0.667	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			6	25	1	0	0.000274275	1	0.000279654	6	25				
PIK3R6	146850	broad.mit.edu	37	17	8732104	8732104	+	Missense_Mutation	SNP	C	C	T	rs531832284	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8732104C>T	ENST00000311434.9	-	11	1332	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	365					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CGCTGCAGCCCGGCTCGCTCC	0.677													C|||	4	0.000798722	0.0	0.0	5008	,	,		16377	0.004		0.0	False		,,,				2504	0.0					ENST00000311434.9																			0											c.(1093-1095)Ggg>Agg		phosphoinositide-3-kinase, regulatory subunit 6							14.0	16.0	15.0					17																	8732104		1929	4111	6040	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8732104C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1093G>A	17.37:g.8732104C>T	ENSP00000475670:p.Gly365Arg					PIK3R6_ENST00000434064.2_5'UTR	p.G365R	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			11	1332	-			365					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1093G>A																																																																																					0.677	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		9	7	0	0	0	1	0	9	7				
RSPRY1	89970	broad.mit.edu	37	16	57265194	57265194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57265194G>A	ENST00000537866.1	+	13	2365	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	RSPRY1_ENST00000394420.4_Missense_Mutation_p.A498T|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	498						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAATGACTACGCCTTCCTAAC	0.358																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1492-1494)Gcc>Acc		ring finger and SPRY domain containing 1							104.0	99.0	100.0					16																	57265194		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57265194G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1492G>A	16.37:g.57265194G>A	ENSP00000443176:p.Ala498Thr					RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.A498T	p.A498T			Q96DX4	RSPRY_HUMAN			13	2365	+			498					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1492G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.710805	0.96821	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86497	-2.13;-2.13	5.78	5.78	0.91487	.	0.046947	0.85682	D	0.000000	D	0.93223	0.7841	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.92714	0.6185	10	0.54805	T	0.06	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	498	Q96DX4	RSPRY_HUMAN	T	498	ENSP00000377942:A498T;ENSP00000443176:A498T	ENSP00000377942:A498T	A	+	1	0	RSPRY1	55822695	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.444000	0.97578	2.730000	0.93505	0.650000	0.86243	GCC		0.358	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		19	39	0	0	0	1	0	19	39				
ZNF468	90333	broad.mit.edu	37	19	53344567	53344567	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53344567T>C	ENST00000595646.1	-	4	1100	c.980A>G	c.(979-981)tAc>tGc	p.Y327C	ZNF468_ENST00000390651.4_Missense_Mutation_p.Y274C|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y274C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTTACATTTGTATGGTTTCTC	0.363																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(979-981)tAc>tGc		zinc finger protein 468							121.0	125.0	124.0					19																	53344567		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344567T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.980A>G	19.37:g.53344567T>C	ENSP00000470381:p.Tyr327Cys					ZNF468_ENST00000390651.4_Missense_Mutation_p.Y274C|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y274C|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR	p.Y327C			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1100	-			327					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.980A>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	7.402	0.632947	0.14322	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.25414	1.8;1.8	1.99	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48466	0.1501	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.22312	-1.0220	9	0.87932	D	0	.	8.6967	0.34301	0.0:0.0:0.0:1.0	.	327	Q5VIY5	ZN468_HUMAN	C	327;274;274;77	ENSP00000379690:Y274C;ENSP00000445669:Y274C	ENSP00000243639:Y327C	Y	-	2	0	ZNF468	58036379	0.240000	0.23847	0.056000	0.19401	0.148000	0.21650	0.808000	0.27154	0.899000	0.36444	0.386000	0.25728	TAC		0.363	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		4	120	0	0	0	1	0	4	120				
BMP7	655	broad.mit.edu	37	20	55746114	55746114	+	Silent	SNP	C	C	T	rs376461446		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55746114C>T	ENST00000395863.3	-	7	1702	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Silent_p.T333T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	399					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CATTGAGCTGCGTGGGCGCAC	0.562													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19695	0.0		0.0	False		,,,				2504	0.0					ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1195-1197)acG>acA		bone morphogenetic protein 7		C		2,4404	4.2+/-10.8	0,2,2201	110.0	90.0	97.0		1197	-10.9	0.2	20		97	0,8600		0,0,4300	no	coding-synonymous	BMP7	NM_001719.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		399/432	55746114	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55746114C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1197G>A	20.37:g.55746114C>T						BMP7_ENST00000395864.3_Silent_p.T333T|BMP7_ENST00000460817.1_5'UTR	p.T399T	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		7	1702	-	all_lung(29;0.0133)|Melanoma(10;0.242)		399					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.1197G>A	CCDS13455.1																																																																																				0.562	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			5	13	0	0	0	1	0	5	13				
GREM1	26585	broad.mit.edu	37	15	33023238	33023238	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33023238G>A	ENST00000300177.4	+	2	536	c.347G>A	c.(346-348)cGc>cAc	p.R116H	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.R75H|GREM1_ENST00000560830.1_Missense_Mutation_p.R75H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	116	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R116H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		ATCATCAACCGCTTCTGTTAC	0.542																																						ENST00000300177.4																			1	Substitution - Missense(1)	p.R116H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(346-348)cGc>cAc		gremlin 1, DAN family BMP antagonist							95.0	74.0	81.0					15																	33023238		2201	4300	6501	SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023238G>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.347G>A	15.37:g.33023238G>A	ENSP00000300177:p.Arg116His					GREM1_ENST00000322805.4_Missense_Mutation_p.R75H|GREM1_ENST00000560830.1_Missense_Mutation_p.R75H|GREM1_ENST00000560677.1_3'UTR	p.R116H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	536	+		all_lung(180;1.49e-09)	116			CTCK.		Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	c.347G>A	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006976	0.93287	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.34072	1.38;1.38	5.57	4.65	0.58169	DAN (1);Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.992	D;D;P	0.77557	0.92;0.99;0.893	T	0.55224	-0.8174	10	0.35671	T	0.21	-17.9568	13.8474	0.63477	0.0729:0.0:0.9271:0.0	.	75;116;46	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	H	116;75	ENSP00000300177:R116H;ENSP00000323101:R75H	ENSP00000300177:R116H	R	+	2	0	GREM1	30810530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.022000	0.88759	2.640000	0.89533	0.655000	0.94253	CGC		0.542	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		9	20	0	0	0	1	0	9	20				
CORO7	79585	broad.mit.edu	37	16	4411454	4411454	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4411454C>T	ENST00000251166.4	-	17	1740	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	532					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTCGGGCAGGCGGCCAGGCTT	0.667																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1594-1596)cGc>cAc		coronin 7							43.0	45.0	45.0					16																	4411454		2196	4297	6493	SO:0001583	missense	79585							g.chr16:4411454C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1595G>A	16.37:g.4411454C>T	ENSP00000251166:p.Arg532His					CORO7_ENST00000574025.1_Missense_Mutation_p.R447H|CORO7_ENST00000539968.1_Missense_Mutation_p.R312H|CORO7_ENST00000537233.2_Missense_Mutation_p.R514H|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R532H|CORO7_ENST00000423908.2_3'UTR	p.R532H	NM_024535.4	NP_078811.3					17	1740	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1595G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917255	0.73098	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.69306	-0.39;-0.39	5.11	5.11	0.69529	.	0.222920	0.36555	N	0.002540	D	0.84275	0.5436	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;P;P;D;D	0.72075	0.976;0.791;0.877;0.925;0.911	D	0.87412	0.2376	10	0.87932	D	0	-16.8601	18.1341	0.89612	0.0:1.0:0.0:0.0	.	447;514;312;532;513	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	H	532;447;312	ENSP00000251166:R532H;ENSP00000446221:R312H	ENSP00000251166:R532H	R	-	2	0	CORO7	4351455	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	2.528000	0.45624	2.373000	0.80994	0.561000	0.74099	CGC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		11	12	0	0	0	1	0	11	12				
BIN3	55909	broad.mit.edu	37	8	22481548	22481548	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22481548C>T	ENST00000276416.6	-	8	563	c.495G>A	c.(493-495)ctG>ctA	p.L165L	BIN3_ENST00000399977.4_Silent_p.L117L|BIN3_ENST00000519513.1_Silent_p.L111L|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	165	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACAGGCCGCAGCTCCTCTC	0.617																																						ENST00000276416.6																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9						c.(493-495)ctG>ctA		bridging integrator 3							29.0	35.0	33.0					8																	22481548		2022	4171	6193	SO:0001819	synonymous_variant	55909				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity	g.chr8:22481548C>T		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.495G>A	8.37:g.22481548C>T						BIN3_ENST00000399977.4_Silent_p.L117L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.L111L	p.L165L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	8	563	-		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)	165			BAR.		Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	c.495G>A	CCDS47825.1																																																																																				0.617	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			13	14	0	0	0	1	0	13	14				
OR5A1	219982	broad.mit.edu	37	11	59211466	59211466	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59211466G>T	ENST00000302030.2	+	1	850	c.825G>T	c.(823-825)aaG>aaT	p.K275N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCAGGGACAAGGTGGTGTCTG	0.512																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(823-825)aaG>aaT		olfactory receptor, family 5, subfamily A, member 1							223.0	189.0	201.0					11																	59211466		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211466G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.825G>T	11.37:g.59211466G>T	ENSP00000303096:p.Lys275Asn						p.K275N	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	850	+			275					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.825G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808777	0.31961	.	.	ENSG00000172320	ENST00000302030	T	0.00207	8.55	5.98	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.109676	0.40385	N	0.001108	T	0.00580	0.0019	M	0.87097	2.86	0.34419	D	0.697271	D	0.76494	0.999	D	0.76575	0.988	T	0.57888	-0.7733	10	0.87932	D	0	-20.5501	11.6811	0.51458	0.2302:0.0:0.7698:0.0	.	275	Q8NGJ0	OR5A1_HUMAN	N	275	ENSP00000303096:K275N	ENSP00000303096:K275N	K	+	3	2	OR5A1	58968042	0.015000	0.18098	1.000000	0.80357	0.073000	0.16967	-0.032000	0.12266	0.868000	0.35678	-0.143000	0.13931	AAG		0.512	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		60	74	1	0	2.22609e-26	1	2.48765e-26	60	74				
HK1	3098	broad.mit.edu	37	10	71158559	71158559	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71158559G>A	ENST00000359426.6	+	17	2688	c.2584G>A	c.(2584-2586)Ggg>Agg	p.G862R	HK1_ENST00000404387.2_Missense_Mutation_p.G866R|HK1_ENST00000448642.2_Missense_Mutation_p.G897R|HK1_ENST00000360289.2_Missense_Mutation_p.G850R|HK1_ENST00000298649.3_Missense_Mutation_p.G861R	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	862	Catalytic.|Glucose-6-phosphate 2 binding.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGGAGTGGACGGGACACTCTA	0.587																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2689-2691)Ggg>Agg		hexokinase 1							92.0	82.0	86.0					10																	71158559		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71158559G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2584G>A	10.37:g.71158559G>A	ENSP00000352398:p.Gly862Arg					HK1_ENST00000404387.2_Missense_Mutation_p.G866R|HK1_ENST00000298649.3_Missense_Mutation_p.G861R|HK1_ENST00000360289.2_Missense_Mutation_p.G850R|HK1_ENST00000359426.6_Missense_Mutation_p.G862R	p.G897R			P19367	HXK1_HUMAN			22	3078	+			862			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.2689G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172164	0.94807	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99905	-7.7;-7.7;-7.7;-7.7;-7.7	5.48	5.48	0.80851	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.972	D;D;D;D;B	0.97110	1.0;1.0;1.0;1.0;0.119	D	0.96051	0.9031	10	0.87932	D	0	-24.9617	18.9341	0.92579	0.0:0.0:1.0:0.0	.	862;861;897;866;850	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	R	850;897;866;861;862;862	ENSP00000353433:G850R;ENSP00000402103:G897R;ENSP00000384774:G866R;ENSP00000298649:G861R;ENSP00000352398:G862R	ENSP00000298649:G861R	G	+	1	0	HK1	70828565	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	9.869000	0.99810	2.562000	0.86427	0.557000	0.71058	GGG		0.587	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		16	27	0	0	0	1	0	16	27				
SETX	23064	broad.mit.edu	37	9	135204624	135204624	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135204624G>T	ENST00000224140.5	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000393220.1_Silent_p.I787I|SETX_ENST00000372169.2_Silent_p.I787I	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	787					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2359-2361)atC>atA		senataxin							84.0	80.0	81.0					9																	135204624		2203	4299	6502	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204624G>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2361C>A	9.37:g.135204624G>T						SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I	p.I787I			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2543	-		Myeloproliferative disorder(178;0.204)	787					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2361C>A	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		21	43	1	0	8.34094e-07	1	8.70022e-07	21	43				
CEP72	55722	broad.mit.edu	37	5	620335	620335	+	Missense_Mutation	SNP	G	G	A	rs542279058		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20813	0.0		0.0	False		,,,				2504	0.0					ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(361-363)cGc>cAc		centrosomal protein 72kDa							117.0	101.0	106.0					5																	620335		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620335G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.362G>A	5.37:g.620335G>A	ENSP00000264935:p.Arg121His					CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	452	+			121			LRRCT.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.362G>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689342	0.68271	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.31247	1.5;1.5	4.81	4.81	0.61882	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.063358	0.64402	D	0.000003	T	0.69672	0.3137	H	0.97682	4.055	0.52099	D	0.99994	D	0.89917	1.0	D	0.85130	0.997	T	0.81638	-0.0842	10	0.87932	D	0	-30.8591	15.1567	0.72749	0.0:0.0:1.0:0.0	.	121	Q9P209	CEP72_HUMAN	H	121	ENSP00000264935:R121H;ENSP00000392052:R121H	ENSP00000264935:R121H	R	+	2	0	CEP72	673335	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.539000	0.73856	2.347000	0.79759	0.462000	0.41574	CGC		0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		27	31	0	0	0	1	0	27	31				
CMYA5	202333	broad.mit.edu	37	5	79028741	79028741	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79028741C>T	ENST00000446378.2	+	2	4184	c.4153C>T	c.(4153-4155)Cgt>Tgt	p.R1385C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1385					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGTAGATCGTCCAGTCTT	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4153-4155)Cgt>Tgt		cardiomyopathy associated 5							37.0	35.0	36.0					5																	79028741		1866	4096	5962	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028741C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4153C>T	5.37:g.79028741C>T	ENSP00000394770:p.Arg1385Cys						p.R1385C	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4184	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1385					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4153C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.580971	0.03854	.	.	ENSG00000164309	ENST00000446378	T	0.04317	3.65	6.17	-3.17	0.05202	.	1.039230	0.07582	N	0.920437	T	0.06050	0.0157	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.52672	0.706	T	0.37430	-0.9706	10	0.66056	D	0.02	.	7.1384	0.25541	0.0:0.3542:0.2287:0.4171	.	1385	Q8N3K9	CMYA5_HUMAN	C	1385	ENSP00000394770:R1385C	ENSP00000394770:R1385C	R	+	1	0	CMYA5	79064497	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.637000	0.05459	-0.494000	0.06669	-0.727000	0.03589	CGT		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		7	14	0	0	0	1	0	7	14				
ABTB1	80325	broad.mit.edu	37	3	127395843	127395843	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:127395843A>G	ENST00000232744.8	+	7	646	c.560A>G	c.(559-561)gAc>gGc	p.D187G	ABTB1_ENST00000453791.2_Missense_Mutation_p.D45G|ABTB1_ENST00000468137.1_Missense_Mutation_p.D45G|ABTB1_ENST00000393363.3_Missense_Mutation_p.D45G					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATGTGAGTGACTGTGAGCGC	0.622																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(133-135)gAc>gGc		ankyrin repeat and BTB (POZ) domain containing 1							57.0	53.0	54.0					3																	127395843		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395843A>G	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.560A>G	3.37:g.127395843A>G	ENSP00000232744:p.Asp187Gly					ABTB1_ENST00000232744.8_Missense_Mutation_p.D187G|ABTB1_ENST00000453791.2_Missense_Mutation_p.D45G|ABTB1_ENST00000393363.3_Missense_Mutation_p.D45G	p.D45G			Q969K4	ABTB1_HUMAN			6	750	+			187						Missense_Mutation	SNP	ENST00000232744.8	37	c.134A>G	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084071	0.76642	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.050966	0.85682	D	0.000000	T	0.79375	0.4435	L	0.58810	1.83	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.67725	0.953;0.84	T	0.77814	-0.2448	10	0.32370	T	0.25	-7.7769	14.01	0.64490	1.0:0.0:0.0:0.0	.	187;162	Q969K4;Q969K4-3	ABTB1_HUMAN;.	G	45;187;45;45	ENSP00000377030:D45G;ENSP00000232744:D187G;ENSP00000412684:D45G;ENSP00000417366:D45G	ENSP00000232744:D187G	D	+	2	0	ABTB1	128878533	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	6.913000	0.75759	1.799000	0.52666	0.482000	0.46254	GAC		0.622	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		10	10	0	0	0	1	0	10	10				
ZMYM1	79830	broad.mit.edu	37	1	35569964	35569964	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35569964G>A	ENST00000373330.1	+	6	662	c.488G>A	c.(487-489)tGc>tAc	p.C163Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.C163Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	163						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAACTTTTTGCAGCCTATCT	0.348																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(487-489)tGc>tAc		zinc finger, MYM-type 1							51.0	50.0	50.0					1																	35569964		1832	4086	5918	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35569964G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.488G>A	1.37:g.35569964G>A	ENSP00000362427:p.Cys163Tyr					ZMYM1_ENST00000359858.4_Missense_Mutation_p.C163Y|ZMYM1_ENST00000373329.1_3'UTR	p.C163Y			Q5SVZ6	ZMYM1_HUMAN			6	662	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	163					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.488G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244720	0.59103	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.50548	0.74;1.01;0.92;1.01	4.71	4.71	0.59529	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.64402	D	0.000020	T	0.68897	0.3051	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72491	-0.4277	10	0.72032	D	0.01	-7.5978	18.2061	0.89854	0.0:0.0:1.0:0.0	.	163;163	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Y	163;163;88;163	ENSP00000394233:C163Y;ENSP00000352920:C163Y;ENSP00000362426:C88Y;ENSP00000362427:C163Y	ENSP00000352920:C163Y	C	+	2	0	ZMYM1	35342551	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.660000	0.83776	2.619000	0.88677	0.655000	0.94253	TGC		0.348	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		38	28	0	0	0	1	0	38	28				
HNF1B	6928	broad.mit.edu	37	17	36091778	36091778	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36091778C>T	ENST00000225893.4	-	4	1214	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	HNF1B_ENST00000427275.2_Missense_Mutation_p.G259S|HNF1B_ENST00000561193.1_Missense_Mutation_p.G259S|HNF1B_ENST00000560016.1_Missense_Mutation_p.G285S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	285			G -> D (in RCAD). {ECO:0000269|PubMed:16249435}.		anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGCCCAGGCCGTGGGCTTTG	0.612																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(853-855)Ggc>Agc		HNF1 homeobox B							102.0	94.0	97.0					17																	36091778		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36091778C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.853G>A	17.37:g.36091778C>T	ENSP00000225893:p.Gly285Ser					HNF1B_ENST00000561193.1_Missense_Mutation_p.G259S|HNF1B_ENST00000560016.1_Missense_Mutation_p.G285S|HNF1B_ENST00000427275.2_Missense_Mutation_p.G259S	p.G285S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1214	-		Breast(25;0.00765)|Ovarian(249;0.15)	285		G -> D (in RCAD).			B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.853G>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235789	0.95240	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.95447	-3.71;-3.71	5.56	5.56	0.83823	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.186864	0.56097	D	0.000021	D	0.97167	0.9074	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.987	D	0.96131	0.9092	10	0.37606	T	0.19	-23.0595	18.6764	0.91529	0.0:1.0:0.0:0.0	.	259;285;285	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	S	285;259;285;173	ENSP00000225893:G285S;ENSP00000412212:G259S	ENSP00000225893:G285S	G	-	1	0	HNF1B	33165891	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.320000	0.79064	2.890000	0.99128	0.655000	0.94253	GGC		0.612	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		19	47	0	0	0	1	0	19	47				
GBP4	115361	broad.mit.edu	37	1	89654413	89654413	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89654413C>T	ENST00000355754.6	-	8	1359	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	421						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTCAGCCTGGCAATATTTGGC	0.428																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(1261-1263)tGc>tAc		guanylate binding protein 4							199.0	205.0	203.0					1																	89654413		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654413C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1262G>A	1.37:g.89654413C>T	ENSP00000359490:p.Cys421Tyr						p.C421Y	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1359	-			421					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1262G>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923188	0.52653	.	.	ENSG00000162654	ENST00000355754	D	0.83075	-1.68	4.73	2.84	0.33178	Guanylate-binding protein, C-terminal (3);	0.169084	0.52532	N	0.000069	D	0.86414	0.5927	M	0.90814	3.15	0.20489	N	0.999891	D	0.64830	0.994	D	0.63283	0.913	T	0.79427	-0.1808	10	0.66056	D	0.02	.	8.2277	0.31579	0.0:0.7407:0.1697:0.0896	.	421	Q96PP9	GBP4_HUMAN	Y	421	ENSP00000359490:C421Y	ENSP00000359490:C421Y	C	-	2	0	GBP4	89427001	0.655000	0.27376	0.018000	0.16275	0.916000	0.54674	1.660000	0.37397	0.686000	0.31488	0.655000	0.94253	TGC		0.428	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		71	99	0	0	0	1	0	71	99				
EPG5	57724	broad.mit.edu	37	18	43484051	43484051	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43484051C>T	ENST00000282041.5	-	25	4395	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1454					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R1454H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGATAGATGCGCTCCATGTT	0.443																																						ENST00000282041.5																			1	Substitution - Missense(1)	p.R1454H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4360-4362)cGc>cAc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							146.0	140.0	142.0					18																	43484051		1982	4168	6150	SO:0001583	missense	57724				autophagy			g.chr18:43484051C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4361G>A	18.37:g.43484051C>T	ENSP00000282041:p.Arg1454His					EPG5_ENST00000585906.1_5'UTR	p.R1454H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4395	-			1454					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4361G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673560	0.88445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11063	2.81	6.04	6.04	0.98038	.	.	.	.	.	T	0.29976	0.0750	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00074	-1.2124	9	0.62326	D	0.03	-10.9235	16.2018	0.82087	0.1408:0.8592:0.0:0.0	.	1454	Q9HCE0	EPG5_HUMAN	H	1454;329	ENSP00000282041:R1454H	ENSP00000282041:R1454H	R	-	2	0	EPG5	41738049	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	CGC		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		14	26	0	0	0	1	0	14	26				
PIBF1	10464	broad.mit.edu	37	13	73572995	73572995	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:73572995G>A	ENST00000326291.6	+	17	2423	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	695						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCGTTAAGATGCATAGTAAAC	0.343																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2083-2085)atG>atA		progesterone immunomodulatory binding factor 1							78.0	70.0	73.0					13																	73572995		2203	4299	6502	SO:0001583	missense	10464					centrosome		g.chr13:73572995G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.2085G>A	13.37:g.73572995G>A	ENSP00000317144:p.Met695Ile					PIBF1_ENST00000489922.1_3'UTR	p.M695I	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	17	2423	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	695					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.2085G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414057	0.42817	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.23147	1.92	5.64	3.76	0.43208	.	0.150694	0.53938	N	0.000044	T	0.19525	0.0469	L	0.46157	1.445	0.33589	D	0.600822	B	0.13594	0.008	B	0.14578	0.011	T	0.14309	-1.0477	10	0.40728	T	0.16	-5.3452	4.9315	0.13919	0.1399:0.0:0.3998:0.4602	.	695	Q8WXW3	PIBF1_HUMAN	I	695;154	ENSP00000317144:M695I	ENSP00000317144:M695I	M	+	3	0	PIBF1	72470996	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	0.819000	0.27308	1.338000	0.45544	0.650000	0.86243	ATG		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		20	10	0	0	0	1	0	20	10				
KCNAB1	7881	broad.mit.edu	37	3	156009906	156009906	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:156009906C>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Silent_p.G70G|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.G70G	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCAGACTGGCATGAAATATA	0.517																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(208-210)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, beta member 1							63.0	58.0	60.0					3																	156009906		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009906C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129499C>T	3.37:g.156009906C>T						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Silent_p.G70G|KCNAB1_ENST00000389636.5_Intron	p.G70G	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	1081	+			88					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.210C>T	CCDS3174.1																																																																																				0.517	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		15	31	0	0	0	1	0	15	31				
SRPK1	6732	broad.mit.edu	37	6	35840373	35840373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:35840373G>A	ENST00000373825.2	-	8	1003	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SRPK1_ENST00000373822.1_Nonsense_Mutation_p.R133*|SRPK1_ENST00000423325.2_Nonsense_Mutation_p.R224*|SRPK1_ENST00000373821.2_5'Flank					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTCCAGATCGCTGCCATTCT	0.428																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(718-720)Cga>Tga		SRSF protein kinase 1							63.0	59.0	60.0					6																	35840373		1922	4128	6050	SO:0001587	stop_gained	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35840373G>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.718C>T	6.37:g.35840373G>A	ENSP00000362931:p.Arg240*					SRPK1_ENST00000373822.1_Nonsense_Mutation_p.R133*|SRPK1_ENST00000423325.2_Nonsense_Mutation_p.R224*	p.R240*			Q96SB4	SRPK1_HUMAN			8	1003	-			240			Protein kinase.			Nonsense_Mutation	SNP	ENST00000373825.2	37	c.718C>T	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.849154	0.97023	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.37	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.9903	12.7944	0.57551	0.0:0.0:0.5849:0.4151	.	.	.	.	X	240;256;224;133	.	ENSP00000354674:R256X	R	-	1	2	SRPK1	35948351	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.012000	0.49575	1.248000	0.43934	0.655000	0.94253	CGA		0.428	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		4	12	0	0	0	1	0	4	12				
SPATA32	124783	broad.mit.edu	37	17	43333080	43333080	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43333080G>T	ENST00000331780.4	-	4	564	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.L136I	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	157					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											GCCCAGAAGAGGTGCTTGGAG	0.577																																						ENST00000543122.1																			0											c.(406-408)Ctc>Atc		spermatogenesis associated 32							111.0	94.0	100.0					17																	43333080		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43333080G>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.469C>A	17.37:g.43333080G>T	ENSP00000331532:p.Leu157Ile					MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.L157I|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA	p.L136I							6	1187	-								Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.406C>A	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781482	0.70222	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.63417	-0.04;-0.04	4.23	3.24	0.37175	.	0.000000	0.37761	N	0.001941	T	0.65678	0.2714	L	0.36672	1.1	0.29901	N	0.824436	D	0.76494	0.999	D	0.67725	0.953	T	0.63102	-0.6712	10	0.87932	D	0	-9.1226	8.1744	0.31272	0.1108:0.0:0.8892:0.0	.	157	Q96LK8	CQ046_HUMAN	I	157;136	ENSP00000331532:L157I;ENSP00000442724:L136I	ENSP00000331532:L157I	L	-	1	0	C17orf46	40688863	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.409000	0.34680	0.997000	0.38969	0.561000	0.74099	CTC		0.577	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		6	60	1	0	3.59834e-05	1	3.7043e-05	6	60				
TUFM	7284	broad.mit.edu	37	16	28854382	28854382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28854382G>A	ENST00000313511.3	-	10	1420	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	425					translational elongation (GO:0006414)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation elongation factor activity (GO:0003746)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TTGCCATCTCGCAGGGTGAAA	0.532																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1282-1284)Cga>Tga		Tu translation elongation factor, mitochondrial							144.0	122.0	129.0					16																	28854382		2197	4300	6497	SO:0001587	stop_gained	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28854382G>A	L38995	CCDS10642.1	16p11.2	2010-10-26			ENSG00000178952	ENSG00000178952			12420	protein-coding gene	gene with protein product		602389				9332382, 9545647	Standard	NM_003321		Approved	EFTu, EF-TuMT, EFTU	uc002drh.2	P49411	OTTHUMG00000097039	ENST00000313511.3:c.1282C>T	16.37:g.28854382G>A	ENSP00000322439:p.Arg428*						p.R428*	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			10	1420	-			425					O15276	Nonsense_Mutation	SNP	ENST00000313511.3	37	c.1282C>T	CCDS10642.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317895	0.95682	.	.	ENSG00000178952	ENST00000313511	.	.	.	4.92	-1.35	0.09114	.	0.067936	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4833	15.1575	0.72755	0.0:0.0:0.3974:0.6026	.	.	.	.	X	428	.	ENSP00000322439:R428X	R	-	1	2	TUFM	28761883	1.000000	0.71417	0.919000	0.36401	0.914000	0.54420	1.011000	0.29911	-0.058000	0.13177	-0.831000	0.03077	CGA		0.532	TUFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214140.1	NM_003321		31	35	0	0	0	1	0	31	35				
OLFM1	10439	broad.mit.edu	37	9	138011583	138011583	+	Silent	SNP	C	C	T	rs558323197		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138011583C>T	ENST00000371793.3	+	6	1268	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	OLFM1_ENST00000371796.3_Silent_p.A312A|OLFM1_ENST00000252854.4_Silent_p.A321A	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	339	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGGACTATGCCGGTTACAACA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19100	0.001		0.0	False		,,,				2504	0.0					ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(961-963)gcC>gcT		olfactomedin 1							97.0	83.0	87.0					9																	138011583		2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011583C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1017C>T	9.37:g.138011583C>T						OLFM1_ENST00000371793.3_Silent_p.A339A|OLFM1_ENST00000371796.3_Silent_p.A312A	p.A321A	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1150	+		Myeloproliferative disorder(178;0.0333)	339			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.963C>T																																																																																					0.552	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		13	20	0	0	0	1	0	13	20				
CEP250	11190	broad.mit.edu	37	20	34091237	34091237	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34091237C>T	ENST00000397527.1	+	30	5760	c.5040C>T	c.(5038-5040)atC>atT	p.I1680I	CEP250_ENST00000342580.4_Silent_p.I1624I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1680	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGACCAAGATCCTGGAGGAGG	0.582																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5038-5040)atC>atT		centrosomal protein 250kDa							107.0	115.0	112.0					20																	34091237		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091237C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5040C>T	20.37:g.34091237C>T						CEP250_ENST00000342580.4_Silent_p.I1624I	p.I1680I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5760	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1680			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.5040C>T	CCDS13255.1																																																																																				0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		28	54	0	0	0	1	0	28	54				
GABRP	2568	broad.mit.edu	37	5	170235671	170235671	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:170235671C>A	ENST00000518525.1	+	9	1211	c.747C>A	c.(745-747)acC>acA	p.T249T	GABRP_ENST00000265294.4_Silent_p.T249T|GABRP_ENST00000519598.1_Silent_p.T249T|GABRP_ENST00000519385.1_Silent_p.T249T			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	249					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTGGAAACCTACGTTCCTT	0.428																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(745-747)acC>acA		gamma-aminobutyric acid (GABA) A receptor, pi							244.0	218.0	227.0					5																	170235671		2203	4300	6503	SO:0001819	synonymous_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235671C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.747C>A	5.37:g.170235671C>A						GABRP_ENST00000519385.1_Silent_p.T249T|GABRP_ENST00000519598.1_Silent_p.T249T|GABRP_ENST00000265294.4_Silent_p.T249T	p.T249T			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1211	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	249					A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	c.747C>A	CCDS4375.1																																																																																				0.428	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		21	29	1	0	1.96292e-10	1	2.09789e-10	21	29				
CNTNAP5	129684	broad.mit.edu	37	2	125660566	125660566	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125660566C>T	ENST00000431078.1	+	22	3905	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1181	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1181S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTGCCCTGCGCCATGCCAC	0.537																																						ENST00000431078.1																			1	Substitution - Missense(1)	p.R1181S(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3541-3543)Cgc>Tgc		contactin associated protein-like 5							63.0	64.0	64.0					2																	125660566		2132	4255	6387	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660566C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3541C>T	2.37:g.125660566C>T	ENSP00000399013:p.Arg1181Cys						p.R1181C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3905	+			1181			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3541C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683548	0.68157	.	.	ENSG00000155052	ENST00000431078	D	0.89485	-2.52	5.5	5.5	0.81552	Laminin G domain (1);	0.000000	0.49916	D	0.000128	D	0.95319	0.8481	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95685	0.8735	10	0.72032	D	0.01	.	18.4001	0.90513	0.0:1.0:0.0:0.0	.	1181	Q8WYK1	CNTP5_HUMAN	C	1181	ENSP00000399013:R1181C	ENSP00000399013:R1181C	R	+	1	0	CNTNAP5	125377036	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	5.850000	0.69473	2.597000	0.87782	0.655000	0.94253	CGC		0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	16	0	0	0	1	0	6	16				
KAT6A	7994	broad.mit.edu	37	8	41905902	41905902	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41905902C>A	ENST00000396930.3	-	3	1137	c.594G>T	c.(592-594)aaG>aaT	p.K198N	KAT6A_ENST00000406337.1_Missense_Mutation_p.K198N|KAT6A_ENST00000485568.1_Missense_Mutation_p.K198N|KAT6A_ENST00000265713.2_Missense_Mutation_p.K198N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	198	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTACCTTATCCTTTTCATGTG	0.398																																						ENST00000396930.3																			0											c.(592-594)aaG>aaT		K(lysine) acetyltransferase 6A							85.0	87.0	86.0					8																	41905902		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41905902C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.594G>T	8.37:g.41905902C>A	ENSP00000380136:p.Lys198Asn					KAT6A_ENST00000265713.2_Missense_Mutation_p.K198N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K198N|KAT6A_ENST00000485568.1_Missense_Mutation_p.K198N	p.K198N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			3	1137	-			198					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.594G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219729	0.22373	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.45	3.55	0.40652	.	0.000000	0.64402	D	0.000001	D	0.87450	0.6180	L	0.44542	1.39	0.42281	D	0.992092	P;D	0.69078	0.835;0.997	B;P	0.58520	0.368;0.84	D	0.86015	0.1503	10	0.56958	D	0.05	-34.3684	8.669	0.34138	0.0:0.7336:0.0:0.2664	.	198;198	A5PLL3;Q92794	.;KAT6A_HUMAN	N	198	ENSP00000265713:K198N;ENSP00000385888:K198N;ENSP00000380136:K198N;ENSP00000430606:K198N	ENSP00000265713:K198N	K	-	3	2	KAT6A	42025059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.788000	0.38714	0.675000	0.31264	0.655000	0.94253	AAG		0.398	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		25	32	1	0	1.2476e-16	1	1.37101e-16	25	32				
FSCN1	6624	broad.mit.edu	37	7	5643653	5643653	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5643653A>C	ENST00000382361.3	+	4	1385	c.1271A>C	c.(1270-1272)aAc>aCc	p.N424T	FSCN1_ENST00000340250.6_Missense_Mutation_p.N403T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	424					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGCGCCTACAACATCAAAGGC	0.647																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1270-1272)aAc>aCc		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							67.0	56.0	59.0					7																	5643653		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5643653A>C	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1271A>C	7.37:g.5643653A>C	ENSP00000371798:p.Asn424Thr					FSCN1_ENST00000340250.6_Missense_Mutation_p.N403T	p.N424T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	4	1385	+		Ovarian(82;0.0694)	424					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1271A>C	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	A	7.976	0.750038	0.15778	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.40225	1.04;1.04	4.43	4.43	0.53597	Fascin domain (1);Actin cross-linking (1);	0.254163	0.37857	U	0.001902	T	0.31857	0.0810	N	0.19112	0.55	0.40721	D	0.982663	P;P	0.46220	0.469;0.874	B;P	0.46172	0.36;0.506	T	0.19943	-1.0290	10	0.87932	D	0	-12.7877	7.7585	0.28938	0.9044:0.0:0.0956:0.0	.	403;424	B3KTA3;Q16658	.;FSCN1_HUMAN	T	403;424;146	ENSP00000339729:N403T;ENSP00000371798:N424T	ENSP00000339729:N403T	N	+	2	0	FSCN1	5610179	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	2.810000	0.47979	1.623000	0.50342	0.368000	0.22195	AAC		0.647	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		7	11	0	0	0	1	0	7	11				
ZNF668	79759	broad.mit.edu	37	16	31075680	31075680	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31075680G>A	ENST00000538906.1	-	2	885	c.101C>T	c.(100-102)gCg>gTg	p.A34V	ZNF668_ENST00000539836.3_Missense_Mutation_p.A57V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A34V|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.A34V|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000426488.2_Missense_Mutation_p.A57V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A34V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGCCCTGGGCGCGTTTGGAAA	0.647																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(100-102)gCg>gTg		zinc finger protein 668							54.0	58.0	57.0					16																	31075680		2197	4298	6495	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075680G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.101C>T	16.37:g.31075680G>A	ENSP00000440149:p.Ala34Val					ZNF668_ENST00000539836.3_Missense_Mutation_p.A57V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A34V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A34V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A34V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A57V	p.A34V	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	885	-			34					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.101C>T	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191125	0.58017	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849;ENST00000414399;ENST00000442862;ENST00000417935;ENST00000426488	T;T;T;T;T;T;T;T	0.48522	2.45;2.45;2.45;2.45;2.45;0.81;3.08;1.63	5.19	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.273428	0.29900	N	0.010904	T	0.27349	0.0671	N	0.19112	0.55	0.18873	N	0.999982	P	0.44006	0.824	B	0.38296	0.27	T	0.13548	-1.0505	10	0.46703	T	0.11	-22.2726	4.8188	0.13379	0.172:0.0:0.6559:0.172	.	34	Q96K58	ZN668_HUMAN	V	57;34;34;34;34;34;34;34;34	ENSP00000442573:A57V;ENSP00000441349:A34V;ENSP00000440149:A34V;ENSP00000378434:A34V;ENSP00000300849:A34V;ENSP00000412340:A34V;ENSP00000416853:A34V;ENSP00000390671:A34V	ENSP00000300849:A34V	A	-	2	0	ZNF668	30983181	0.118000	0.22208	0.949000	0.38748	0.922000	0.55478	2.721000	0.47260	1.424000	0.47217	-0.258000	0.10820	GCG		0.647	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		14	69	0	0	0	1	0	14	69				
ACAN	176	broad.mit.edu	37	15	89382166	89382166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89382166G>A	ENST00000561243.1	+	2	343	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ACAN_ENST00000558207.1_Missense_Mutation_p.D115N|ACAN_ENST00000439576.2_Missense_Mutation_p.D115N|ACAN_ENST00000559004.1_Missense_Mutation_p.D115N|ACAN_ENST00000352105.7_Missense_Mutation_p.D115N			P16112	PGCA_HUMAN	aggrecan	115	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CATCCCCAGTGACGCCACCTT	0.622																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(343-345)Gac>Aac		aggrecan							130.0	151.0	143.0					15																	89382166		2144	4261	6405	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382166G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.343G>A	15.37:g.89382166G>A	ENSP00000453342:p.Asp115Asn					ACAN_ENST00000352105.7_Missense_Mutation_p.D115N|ACAN_ENST00000559004.1_Missense_Mutation_p.D115N|ACAN_ENST00000561243.1_Missense_Mutation_p.D115N|ACAN_ENST00000558207.1_Missense_Mutation_p.D115N	p.D115N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	717	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		115					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.343G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602653	0.87157	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02682	4.2;4.2	5.36	5.36	0.76844	.	.	.	.	.	T	0.13372	0.0324	L	0.58510	1.815	0.52501	D	0.999955	D;D;P	0.89917	1.0;1.0;0.937	D;D;D	0.85130	0.997;0.997;0.923	T	0.00348	-1.1799	9	0.46703	T	0.11	-29.1174	18.4414	0.90667	0.0:0.0:1.0:0.0	.	115;115;115	E7ENV9;E7EX88;Q6PID9	.;.;.	N	115	ENSP00000387356:D115N;ENSP00000341615:D115N	ENSP00000268134:D115N	D	+	1	0	ACAN	87183170	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.715000	0.98748	2.689000	0.91719	0.591000	0.81541	GAC		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		46	56	0	0	0	1	0	46	56				
SETBP1	26040	broad.mit.edu	37	18	42643648	42643648	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42643648C>T	ENST00000282030.5	+	6	5072	c.4776C>T	c.(4774-4776)agC>agT	p.S1592S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1592						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1538S(1)|p.S1592S(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTGAGAGCGAGGTCCTTC	0.697									Schinzel-Giedion syndrome																													ENST00000282030.5																			2	Substitution - coding silent(2)	p.S1538S(1)|p.S1592S(1)	endometrium(2)	NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4774-4776)agC>agT		SET binding protein 1							13.0	18.0	16.0					18																	42643648		2133	4109	6242	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643648C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4776C>T	18.37:g.42643648C>T							p.S1592S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	5072	+			1592					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.4776C>T	CCDS11923.2																																																																																				0.697	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	3	0	0	0	1	0	4	3				
DDN	23109	broad.mit.edu	37	12	49391285	49391285	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49391285C>T	ENST00000421952.2	-	2	1395	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	458	Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1372-1374)acG>acA		dendrin							66.0	65.0	66.0					12																	49391285		2203	4300	6503	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391285C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1374G>A	12.37:g.49391285C>T							p.T458T	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1395	-			458			Interaction with CD2AP and NPHS1 (By similarity).			Silent	SNP	ENST00000421952.2	37	c.1374G>A	CCDS31791.2																																																																																				0.642	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			26	33	0	0	0	1	0	26	33				
THRAP3	9967	broad.mit.edu	37	1	36755134	36755134	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36755134G>A	ENST00000354618.5	+	5	1738	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G505D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	505	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGATCGGGGCAAGAGAAGC	0.522			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1513-1515)gGc>gAc		thyroid hormone receptor associated protein 3							87.0	99.0	95.0					1																	36755134		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755134G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1514G>A	1.37:g.36755134G>A	ENSP00000346634:p.Gly505Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.G505D	p.G505D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			5	1738	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	505					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1514G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	3.597	-0.082291	0.07141	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13657	2.57;2.57	5.84	4.88	0.63580	.	0.357416	0.26414	N	0.024507	T	0.09949	0.0244	N	0.22421	0.69	0.25023	N	0.991329	B	0.28933	0.228	B	0.27796	0.083	T	0.17745	-1.0359	10	0.46703	T	0.11	-8.411	11.5538	0.50735	0.0755:0.2077:0.7168:0.0	.	505	Q9Y2W1	TR150_HUMAN	D	505	ENSP00000346634:G505D;ENSP00000433825:G505D	ENSP00000346634:G505D	G	+	2	0	THRAP3	36527721	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.293000	0.33353	2.765000	0.95021	0.655000	0.94253	GGC		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	83	0	0	0	1	0	5	83				
PLCD1	5333	broad.mit.edu	37	3	38050790	38050790	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38050790G>A	ENST00000334661.4	-	10	1801	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	PLCD1_ENST00000463876.1_Missense_Mutation_p.R548C|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	527	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGAAGGGCACGGTTCTCAGAG	0.587																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1642-1644)Cgt>Tgt		phospholipase C, delta 1							80.0	84.0	83.0					3																	38050790		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050790G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1579C>T	3.37:g.38050790G>A	ENSP00000335600:p.Arg527Cys					PLCD1_ENST00000334661.4_Missense_Mutation_p.R527C	p.R548C	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	1995	-			527			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1642C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154462	0.78114	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.19	4.25	0.50352	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.156135	0.53938	N	0.000047	T	0.73265	0.3565	L	0.49778	1.585	0.53005	D	0.999961	D;D	0.76494	0.999;0.997	D;P	0.63033	0.91;0.892	T	0.75028	-0.3462	10	0.72032	D	0.01	.	11.3632	0.49655	0.0:0.0:0.6585:0.3415	.	527;548	P51178;B3KR14	PLCD1_HUMAN;.	C	548;527	ENSP00000430344:R548C;ENSP00000335600:R527C	ENSP00000335600:R527C	R	-	1	0	PLCD1	38025794	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.621000	0.54210	2.606000	0.88127	0.555000	0.69702	CGT		0.587	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			24	26	0	0	0	1	0	24	26				
ACAP2	23527	broad.mit.edu	37	3	195028045	195028045	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195028045G>A	ENST00000326793.6	-	12	1147	c.917C>T	c.(916-918)cCg>cTg	p.P306L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	306	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TACCACAGTCGGATTATCCTA	0.378																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(916-918)cCg>cTg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							106.0	102.0	104.0					3																	195028045		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195028045G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.917C>T	3.37:g.195028045G>A	ENSP00000324287:p.Pro306Leu						p.P306L	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			12	1147	-			306			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.917C>T	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078306	0.07184	.	.	ENSG00000114331	ENST00000326793	T	0.74632	-0.86	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.287190	0.45361	D	0.000377	T	0.61476	0.2350	N	0.20530	0.585	0.80722	D	1	B	0.20261	0.043	B	0.20384	0.029	T	0.57774	-0.7753	10	0.07813	T	0.8	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	306	Q15057	ACAP2_HUMAN	L	306	ENSP00000324287:P306L	ENSP00000324287:P306L	P	-	2	0	ACAP2	196509334	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	4.674000	0.61612	2.885000	0.99019	0.655000	0.94253	CCG		0.378	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		32	47	0	0	0	1	0	32	47				
PYGB	5834	broad.mit.edu	37	20	25263878	25263878	+	Missense_Mutation	SNP	G	G	A	rs377297438		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25263878G>A	ENST00000216962.4	+	13	1695	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	529					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGTCAGTGACGAGGTGTTCAT	0.622																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1585-1587)Gag>Aag		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	G	LYS/GLU	0,4406		0,0,2203	70.0	62.0	64.0		1585	3.7	0.8	20		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	529/844	25263878	1,13005	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25263878G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1585G>A	20.37:g.25263878G>A	ENSP00000216962:p.Glu529Lys						p.E529K	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			13	1695	+			529					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1585G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758802	0.31137	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.93488	-3.23	3.66	3.66	0.41972	.	0.102344	0.64402	D	0.000004	D	0.85923	0.5810	N	0.12831	0.26	0.58432	D	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.81564	-0.0875	10	0.27785	T	0.31	-40.4442	15.512	0.75789	0.0:0.0:1.0:0.0	.	529	P11216	PYGB_HUMAN	K	529	ENSP00000216962:E529K	ENSP00000216962:E529K	E	+	1	0	PYGB	25211878	1.000000	0.71417	0.844000	0.33320	0.067000	0.16453	9.492000	0.97957	2.038000	0.60285	0.462000	0.41574	GAG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		17	26	0	0	0	1	0	17	26				
LGI4	163175	broad.mit.edu	37	19	35617178	35617178	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35617178G>T	ENST00000310123.3	-	8	1814	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	LGI4_ENST00000392225.3_Missense_Mutation_p.P458T|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	432					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTCACCATGGAGTCCCCAAT	0.607																																						ENST00000392225.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1372-1374)Cca>Aca		leucine-rich repeat LGI family, member 4							28.0	25.0	26.0					19																	35617178		2203	4298	6501	SO:0001583	missense	163175					extracellular region		g.chr19:35617178G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1295C>A	19.37:g.35617178G>T	ENSP00000312273:p.Ser432Tyr					LGI4_ENST00000310123.3_Missense_Mutation_p.S432Y|LGI4_ENST00000493050.1_5'UTR	p.P458T			Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	1891	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		0					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1372C>A	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.611504|4.611504	0.87258|0.87258	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000392225|ENST00000310123;ENST00000437421	T|D	0.70516|0.85629	-0.49|-2.01	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.56097	.|D	.|0.000031	D|D	0.91660|0.91660	0.7364|0.7364	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.92787|0.92787	0.6245|0.6245	7|10	0.87932|0.87932	D|D	0|0	.|.	15.0589|15.0589	0.71936|0.71936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|343;432	.|Q658V8;Q8N135	.|.;LGI4_HUMAN	T|Y	458|432	ENSP00000376059:P458T|ENSP00000312273:S432Y	ENSP00000376059:P458T|ENSP00000312273:S432Y	P|S	-|-	1|2	0|0	LGI4|LGI4	40309018|40309018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.721000|9.721000	0.98766|0.98766	2.147000|2.147000	0.66899|0.66899	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.607	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			4	4	1	0	0.00024832	1	0.000253518	4	4				
MYH11	4629	broad.mit.edu	37	16	15865458	15865458	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15865458G>A	ENST00000300036.5	-	9	1110	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	MYH11_ENST00000452625.2_Missense_Mutation_p.A341V|MYH11_ENST00000396324.3_Missense_Mutation_p.A341V|MYH11_ENST00000576790.2_Missense_Mutation_p.A334V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	334	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCCATGATTGCCATGGCCTC	0.527			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1000-1002)gCa>gTa		myosin, heavy chain 11, smooth muscle							132.0	109.0	117.0					16																	15865458		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865458G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1001C>T	16.37:g.15865458G>A	ENSP00000300036:p.Ala334Val					MYH11_ENST00000576790.1_Missense_Mutation_p.A334V|MYH11_ENST00000452625.2_Missense_Mutation_p.A341V|MYH11_ENST00000396324.3_Missense_Mutation_p.A341V|MYH11_ENST00000300036.5_Missense_Mutation_p.A334V	p.A334V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			9	1107	-			334			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1001C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992201	0.35131	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.43	-4.44	0.03557	Myosin head, motor domain (2);	1.131850	0.06551	N	0.745041	T	0.64800	0.2631	L	0.39245	1.2	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20955	0.009;0.003;0.003;0.003;0.005;0.032	T	0.58624	-0.7604	10	0.72032	D	0.01	.	17.8873	0.88861	0.0:0.6609:0.2613:0.0778	.	341;334;334;341;334;341	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	V	334;334;341;341;341	ENSP00000300036:A334V;ENSP00000345136:A334V;ENSP00000379616:A341V;ENSP00000407821:A341V	ENSP00000300036:A334V	A	-	2	0	MYH11	15772959	0.000000	0.05858	0.030000	0.17652	0.758000	0.43043	-0.762000	0.04745	-0.388000	0.07797	-0.270000	0.10280	GCA		0.527	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		23	34	0	0	0	1	0	23	34				
C7orf60	154743	broad.mit.edu	37	7	112462157	112462157	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112462157G>A	ENST00000297145.4	-	5	1025	c.860C>T	c.(859-861)gCt>gTt	p.A287V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	287							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CATCATCATAGCATGACGGTT	0.398																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(859-861)gCt>gTt		chromosome 7 open reading frame 60							119.0	108.0	112.0					7																	112462157		1864	4110	5974	SO:0001583	missense	154743							g.chr7:112462157G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.860C>T	7.37:g.112462157G>A	ENSP00000297145:p.Ala287Val						p.A287V	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	1025	-			287					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.860C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562224	0.86335	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.999;0.959	D;P	0.83275	0.996;0.716	D	0.84882	0.0831	9	0.87932	D	0	-11.6085	20.327	0.98704	0.0:0.0:1.0:0.0	.	234;287	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	287;269;234	.	ENSP00000297145:A287V	A	-	2	0	C7orf60	112249393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.794000	0.96219	0.650000	0.86243	GCT		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		12	77	0	0	0	1	0	12	77				
UBE2I	7329	broad.mit.edu	37	16	1365672	1365672	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1365672C>T	ENST00000355803.4	+	4	719	c.168C>T	c.(166-168)ggC>ggT	p.G56G	UBE2I_ENST00000406620.1_Silent_p.G56G|UBE2I_ENST00000402301.1_Silent_p.G56G|UBE2I_ENST00000325437.5_Silent_p.G56G|UBE2I_ENST00000566587.1_Silent_p.G56G|UBE2I_ENST00000397515.2_Silent_p.G56G|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000397514.3_Silent_p.G56G|UBE2I_ENST00000403747.2_Silent_p.G56G	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	56					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGGAAGGAGGCTTGTTTAAAC	0.537																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(166-168)ggC>ggT		ubiquitin-conjugating enzyme E2I							139.0	136.0	137.0					16																	1365672		2199	4300	6499	SO:0001819	synonymous_variant	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1365672C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.168C>T	16.37:g.1365672C>T						UBE2I_ENST00000397515.2_Silent_p.G56G|UBE2I_ENST00000566587.1_Silent_p.G56G|UBE2I_ENST00000325437.5_Silent_p.G56G|UBE2I_ENST00000402301.1_Silent_p.G56G|UBE2I_ENST00000397514.3_Silent_p.G56G|UBE2I_ENST00000406620.1_Silent_p.G56G|UBE2I_ENST00000403747.2_Silent_p.G56G	p.G56G	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN			4	719	+		Hepatocellular(780;0.00369)	56					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Silent	SNP	ENST00000355803.4	37	c.168C>T	CCDS10433.1																																																																																				0.537	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		46	83	0	0	0	1	0	46	83				
PROCR	10544	broad.mit.edu	37	20	33762558	33762558	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33762558G>A	ENST00000216968.4	+	2	206	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	42					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCCCTATCACGTGTGGTACCA	0.632																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(124-126)Gtg>Atg		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						103.0	95.0	98.0					20																	33762558		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762558G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.124G>A	20.37:g.33762558G>A	ENSP00000216968:p.Val42Met					EDEM2_ENST00000540582.1_Intron	p.V42M	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	206	+			42					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.124G>A	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.945868	0.92593	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.83163	-1.69	5.49	5.49	0.81192	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.220120	0.31697	N	0.007213	D	0.90280	0.6960	M	0.76574	2.34	0.38603	D	0.950704	D	0.89917	1.0	D	0.74023	0.982	D	0.92024	0.5628	10	0.87932	D	0	.	14.8787	0.70516	0.0:0.0:1.0:0.0	.	42	Q9UNN8	EPCR_HUMAN	M	42	ENSP00000216968:V42M	ENSP00000216968:V42M	V	+	1	0	PROCR	33226219	0.994000	0.37717	0.995000	0.50966	0.771000	0.43674	3.147000	0.50639	2.592000	0.87571	0.556000	0.70494	GTG		0.632	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			29	45	0	0	0	1	0	29	45				
OR3A3	8392	broad.mit.edu	37	17	3324785	3324785	+	Silent	SNP	C	C	T	rs372610786		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3324785C>T	ENST00000291231.1	+	1	924	c.924C>T	c.(922-924)ggC>ggT	p.G308G		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	308					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						ATGTTCAGGGCGCTCTGTGTC	0.483																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(922-924)ggC>ggT		olfactory receptor, family 3, subfamily A, member 3		C		0,4406		0,0,2203	75.0	76.0	75.0		924	-4.0	0.0	17		75	1,8599		0,1,4299	no	coding-synonymous	OR3A3	NM_012373.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		308/322	3324785	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324785C>T	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.924C>T	17.37:g.3324785C>T							p.G308G	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	924	+			308					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	ENST00000291231.1	37	c.924C>T	CCDS11025.1																																																																																				0.483	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			30	27	0	0	0	1	0	30	27				
MRPS9	64965	broad.mit.edu	37	2	105713699	105713699	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105713699C>T	ENST00000258455.3	+	10	1126	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGGAGGTCAGCGCAGGCTGGA	0.562																																						ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1015-1017)gCg>gTg		mitochondrial ribosomal protein S9							105.0	92.0	97.0					2																	105713699		2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105713699C>T		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.1016C>T	2.37:g.105713699C>T	ENSP00000258455:p.Ala339Val					AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA	p.A339V	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			10	1126	+			339					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.1016C>T	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683635	0.68157	.	.	ENSG00000135972	ENST00000258455	T	0.52526	0.66	5.92	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S9, conserved site (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.476444	0.24530	N	0.037726	T	0.62539	0.2436	M	0.80616	2.505	0.09310	N	1	D	0.55385	0.971	P	0.51615	0.675	T	0.62243	-0.6895	10	0.87932	D	0	-2.791	15.2992	0.73933	0.0:0.9329:0.0:0.0671	.	339	P82933	RT09_HUMAN	V	339	ENSP00000258455:A339V	ENSP00000258455:A339V	A	+	2	0	MRPS9	105080131	0.375000	0.25089	0.116000	0.21606	0.954000	0.61252	3.526000	0.53509	1.509000	0.48786	0.655000	0.94253	GCG		0.562	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		20	28	0	0	0	1	0	20	28				
EPB41	2035	broad.mit.edu	37	1	29362427	29362427	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:29362427G>A	ENST00000343067.4	+	10	1582	c.1455G>A	c.(1453-1455)acG>acA	p.T485T	EPB41_ENST00000356093.2_Silent_p.T485T|EPB41_ENST00000373798.1_Silent_p.T485T|EPB41_ENST00000347529.3_Silent_p.T450T|EPB41_ENST00000373797.1_Silent_p.T485T|EPB41_ENST00000373800.3_Silent_p.T276T|EPB41_ENST00000398863.2_Silent_p.T485T|EPB41_ENST00000349460.4_Silent_p.T276T	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	485	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AACATCACACGTTTTTCAGGT	0.323																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1453-1455)acG>acA		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							100.0	96.0	97.0					1																	29362427		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29362427G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1455G>A	1.37:g.29362427G>A						EPB41_ENST00000349460.4_Silent_p.T276T|EPB41_ENST00000347529.3_Silent_p.T450T|EPB41_ENST00000356093.2_Silent_p.T485T|EPB41_ENST00000373800.3_Silent_p.T276T|EPB41_ENST00000373798.1_Silent_p.T485T|EPB41_ENST00000398863.2_Silent_p.T485T|EPB41_ENST00000373797.1_Silent_p.T485T	p.T485T	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	10	1582	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	485			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.1455G>A	CCDS53288.1																																																																																				0.323	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		18	28	0	0	0	1	0	18	28				
ADCY6	112	broad.mit.edu	37	12	49172005	49172005	+	Silent	SNP	G	G	A	rs372364253		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49172005G>A	ENST00000307885.4	-	2	1594	c.900C>T	c.(898-900)aaC>aaT	p.N300N	ADCY6_ENST00000550422.1_Silent_p.N300N|ADCY6_ENST00000357869.3_Silent_p.N300N|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	300					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCCAATGACGTTGGTGCAGA	0.602																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(898-900)aaC>aaT		adenylate cyclase 6			,	1,4405	2.1+/-5.4	0,1,2202	121.0	90.0	100.0		900,900	-8.9	0.2	12		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADCY6	NM_015270.3,NM_020983.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	300/1169,300/1116	49172005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49172005G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.900C>T	12.37:g.49172005G>A						ADCY6_ENST00000550422.1_Silent_p.N300N|ADCY6_ENST00000357869.3_Silent_p.N300N	p.N300N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			2	1594	-			300					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.900C>T	CCDS8767.1																																																																																				0.602	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		15	30	0	0	0	1	0	15	30				
INADL	10207	broad.mit.edu	37	1	62455951	62455951	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62455951G>A	ENST00000371158.2	+	28	3896	c.3782G>A	c.(3781-3783)cGc>cAc	p.R1261H	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1261H|INADL_ENST00000543708.1_Missense_Mutation_p.R45H	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1261	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACCGATCACGCATGAGCATA	0.453																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(3781-3783)cGc>cAc		InaD-like (Drosophila)							106.0	98.0	101.0					1																	62455951		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455951G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3782G>A	1.37:g.62455951G>A	ENSP00000360200:p.Arg1261His					INADL_ENST00000543708.1_Missense_Mutation_p.R45H|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1261H	p.R1261H	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			28	3896	+			1261			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3782G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691596	0.68271	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.84	3.83	0.44106	PDZ/DHR/GLGF (4);	0.073201	0.56097	D	0.000039	T	0.32102	0.0818	L	0.28274	0.84	0.80722	D	1	B;B;B;B;B	0.19583	0.001;0.022;0.022;0.005;0.037	B;B;B;B;B	0.19946	0.005;0.027;0.016;0.02;0.018	T	0.13072	-1.0523	10	0.48119	T	0.1	.	14.5702	0.68205	0.0:0.0:0.7338:0.2661	.	45;720;1261;1261;1261	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	H	1261;1261;1261;1261;45;45	ENSP00000360200:R1261H;ENSP00000326199:R1261H;ENSP00000307496:R45H;ENSP00000445790:R45H	ENSP00000307496:R45H	R	+	2	0	INADL	62228539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.785000	0.62418	1.428000	0.47296	0.655000	0.94253	CGC		0.453	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		34	58	0	0	0	1	0	34	58				
MFHAS1	9258	broad.mit.edu	37	8	8747729	8747729	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:8747729G>A	ENST00000276282.6	-	1	3426	c.2840C>T	c.(2839-2841)gCa>gTa	p.A947V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	947										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTAATGATGCATGGCTAGC	0.512																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2839-2841)gCa>gTa		malignant fibrous histiocytoma amplified sequence 1							103.0	99.0	101.0					8																	8747729		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8747729G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2840C>T	8.37:g.8747729G>A	ENSP00000276282:p.Ala947Val						p.A947V	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3426	-		Hepatocellular(245;0.217)	947					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2840C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873685	0.72180	.	.	ENSG00000147324	ENST00000276282	T	0.35973	1.28	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.29458	-1.0011	10	0.25751	T	0.34	.	19.0006	0.92832	0.0:0.0:1.0:0.0	.	947	Q9Y4C4	MFHA1_HUMAN	V	947	ENSP00000276282:A947V	ENSP00000276282:A947V	A	-	2	0	MFHAS1	8785139	1.000000	0.71417	0.931000	0.37212	0.255000	0.26057	9.377000	0.97184	2.749000	0.94314	0.655000	0.94253	GCA		0.512	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		26	42	0	0	0	1	0	26	42				
KLK15	55554	broad.mit.edu	37	19	51329883	51329883	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51329883G>T	ENST00000598239.1	-	4	642	c.612C>A	c.(610-612)tcC>tcA	p.S204S	KLK15_ENST00000326856.4_Silent_p.S203S|KLK1_ENST00000448701.2_5'Flank|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGACCTCACAGGATTCTGCGC	0.577																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(607-609)tcC>tcA		kallikrein-related peptidase 15							80.0	83.0	82.0					19																	51329883		2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329883G>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.612C>A	19.37:g.51329883G>T						KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Silent_p.S204S|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000596931.1_Intron	p.S203S	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	738	-		all_neural(266;0.057)	204			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.609C>A	CCDS12805.1																																																																																				0.577	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		18	35	1	0	7.45023e-12	1	8.03714e-12	18	35				
HIVEP3	59269	broad.mit.edu	37	1	42048551	42048551	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42048551C>A	ENST00000372583.1	-	4	2803	c.1918G>T	c.(1918-1920)Ggg>Tgg	p.G640W	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G640W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TAGATCACCCCTTTTGTTTTC	0.468																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1918-1920)Ggg>Tgg		human immunodeficiency virus type I enhancer binding protein 3							138.0	137.0	137.0					1																	42048551		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048551C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1918G>T	1.37:g.42048551C>A	ENSP00000361664:p.Gly640Trp					HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640W|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640W	p.G640W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2932	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	640			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1918G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862618	0.51482	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000058	T	0.50000	0.1590	M	0.69358	2.11	0.43408	D	0.995542	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52638	-0.8549	10	0.56958	D	0.05	3.3037	16.914	0.86147	0.0:1.0:0.0:0.0	.	640;640	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	640	ENSP00000361665:G640W;ENSP00000361664:G640W;ENSP00000247584:G640W;ENSP00000410828:G640W	ENSP00000247584:G640W	G	-	1	0	HIVEP3	41821138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.455000	0.60075	2.326000	0.78906	0.555000	0.69702	GGG		0.468	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	208	1	0	1.26484e-09	1	1.34508e-09	7	208				
CDH15	1013	broad.mit.edu	37	16	89251613	89251613	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89251613G>A	ENST00000289746.2	+	5	600	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	179	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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCCACAGATGCCGACGACCC	0.662																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(535-537)Gcc>Acc		cadherin 15, type 1, M-cadherin (myotubule)							41.0	40.0	41.0					16																	89251613		2189	4294	6483	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251613G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.535G>A	16.37:g.89251613G>A	ENSP00000289746:p.Ala179Thr						p.A179T	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	600	+			179			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.535G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505724	0.64410	.	.	ENSG00000129910	ENST00000289746	T	0.61859	0.07	4.76	4.76	0.60689	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000064	T	0.78559	0.4302	M	0.86178	2.8	0.49213	D	0.999766	D	0.89917	1.0	D	0.80764	0.994	T	0.83119	-0.0119	10	0.87932	D	0	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	179	P55291	CAD15_HUMAN	T	179	ENSP00000289746:A179T	ENSP00000289746:A179T	A	+	1	0	CDH15	87779114	1.000000	0.71417	0.134000	0.22075	0.180000	0.23129	7.409000	0.80053	2.187000	0.69744	0.462000	0.41574	GCC		0.662	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		4	13	0	0	0	1	0	4	13				
ZFP36L2	678	broad.mit.edu	37	2	43452136	43452136	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43452136C>T	ENST00000282388.3	-	2	1100	c.807G>A	c.(805-807)caG>caA	p.Q269Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	269					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCCCGGGGGCTGATGGTGGC	0.736																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(805-807)caG>caA		ZFP36 ring finger protein-like 2							13.0	22.0	19.0					2																	43452136		2162	4235	6397	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452136C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.807G>A	2.37:g.43452136C>T						THADA_ENST00000330266.7_Intron	p.Q269Q	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1100	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	269					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.807G>A	CCDS1811.1																																																																																				0.736	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		4	10	0	0	0	1	0	4	10				
KAL1	3730	broad.mit.edu	37	X	8502379	8502379	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:8502379G>T	ENST00000262648.3	-	13	2114	c.1965C>A	c.(1963-1965)ctC>ctA	p.L655L	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	655	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AAGAGGGTGGGAGCTCCGGCG	0.547																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1963-1965)ctC>ctA		Kallmann syndrome 1 sequence							49.0	41.0	44.0					X																	8502379		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8502379G>T		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1965C>A	X.37:g.8502379G>T							p.L655L	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			13	2114	-			655					B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1965C>A	CCDS14130.1																																																																																				0.547	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		14	2	1	0	2.32078e-09	1	2.46314e-09	14	2				
KCNH1	3756	broad.mit.edu	37	1	210857205	210857205	+	Silent	SNP	C	C	T	rs138875472		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210857205C>T	ENST00000271751.4	-	11	2415	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	KCNH1_ENST00000367007.4_Silent_p.T769T			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	796					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.T796T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGATACGGGCGTGGCAGGAC	0.667																																						ENST00000367007.4																			1	Substitution - coding silent(1)	p.T796T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2305-2307)acG>acA		potassium voltage-gated channel, subfamily H (eag-related), member 1		C	,	0,4406		0,0,2203	57.0	55.0	56.0		2307,2388	-1.3	1.0	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNH1	NM_002238.3,NM_172362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	769/963,796/990	210857205	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210857205C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2388G>A	1.37:g.210857205C>T						KCNH1_ENST00000271751.4_Silent_p.T796T	p.T769T	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	11	2476	-			796			Calmodulin-binding.		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.2307G>A	CCDS1496.1																																																																																				0.667	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		18	26	0	0	0	1	0	18	26				
SYMPK	8189	broad.mit.edu	37	19	46332278	46332278	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46332278G>A	ENST00000245934.7	-	14	2179	c.1935C>T	c.(1933-1935)tgC>tgT	p.C645C	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	645					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCGGATGAGGCAGTCCTCAT	0.652																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1933-1935)tgC>tgT		symplekin							70.0	70.0	70.0					19																	46332278		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332278G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1935C>T	19.37:g.46332278G>A							p.C645C	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2179	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	645					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1935C>T	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		20	34	0	0	0	1	0	20	34				
HEATR4	399671	broad.mit.edu	37	14	73989701	73989701	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73989701G>A	ENST00000553558.1	-	3	477	c.156C>T	c.(154-156)agC>agT	p.S52S	HEATR4_ENST00000560393.1_Silent_p.S5S|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Silent_p.S52S	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	52										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTACTGTGAGCTGAAGAAGA	0.522																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(154-156)agC>agT		HEAT repeat containing 4							87.0	90.0	89.0					14																	73989701		2203	4300	6503	SO:0001819	synonymous_variant	399671							g.chr14:73989701G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.156C>T	14.37:g.73989701G>A						HEATR4_ENST00000560393.1_Silent_p.S5S|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Silent_p.S52S	p.S52S	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	477	-								B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.156C>T	CCDS9815.2																																																																																				0.522	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		11	61	0	0	0	1	0	11	61				
ZNF660	285349	broad.mit.edu	37	3	44636460	44636460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:44636460C>T	ENST00000322734.2	+	3	1108	c.775C>T	c.(775-777)Cga>Tga	p.R259*	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACTTCTAATCGAAACCTTGT	0.373																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(775-777)Cga>Tga		zinc finger protein 660							59.0	60.0	60.0					3																	44636460		2203	4300	6503	SO:0001587	stop_gained	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636460C>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.775C>T	3.37:g.44636460C>T	ENSP00000324605:p.Arg259*					RP11-944L7.4_ENST00000457331.1_RNA	p.R259*	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	1108	+			259					Q7Z331|Q8N9M8	Nonsense_Mutation	SNP	ENST00000322734.2	37	c.775C>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512608	0.96402	.	.	ENSG00000144792	ENST00000322734	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.28108	N	0.931129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1249	0.30992	0.0:0.8902:0.0:0.1098	.	.	.	.	X	259	.	.	R	+	1	2	ZNF660	44611464	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.031000	0.13710	2.330000	0.79161	0.650000	0.86243	CGA		0.373	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		31	46	0	0	0	1	0	31	46				
CUBN	8029	broad.mit.edu	37	10	16932470	16932470	+	Silent	SNP	G	G	A	rs369599232		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16932470G>A	ENST00000377833.4	-	55	8720	c.8655C>T	c.(8653-8655)aaC>aaT	p.N2885N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2885	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGGAGCCACGTTCCCACAGC	0.562																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(8653-8655)aaC>aaT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G		0,4406		0,0,2203	113.0	102.0	106.0		8655	-3.2	0.0	10		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2885/3624	16932470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16932470G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8655C>T	10.37:g.16932470G>A							p.N2885N	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			55	8720	-			2885			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8655C>T	CCDS7113.1																																																																																				0.562	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	25	0	0	0	1	0	20	25				
EWSR1	2130	broad.mit.edu	37	22	29693897	29693897	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29693897C>T	ENST00000397938.2	+	13	1694	c.1375C>T	c.(1375-1377)Cca>Tca	p.P459S	EWSR1_ENST00000332050.6_Missense_Mutation_p.P386S|EWSR1_ENST00000414183.2_Missense_Mutation_p.P464S|EWSR1_ENST00000406548.1_Missense_Mutation_p.P458S|EWSR1_ENST00000332035.6_Missense_Mutation_p.P403S|EWSR1_ENST00000331029.7_Missense_Mutation_p.P421S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	459	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGTGGTCTGCCACCCCGTGA	0.493			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1375-1377)Cca>Tca		EWS RNA-binding protein 1							76.0	78.0	78.0					22																	29693897		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29693897C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1375C>T	22.37:g.29693897C>T	ENSP00000381031:p.Pro459Ser					EWSR1_ENST00000331029.7_Missense_Mutation_p.P421S|EWSR1_ENST00000414183.2_Missense_Mutation_p.P464S|EWSR1_ENST00000332035.6_Missense_Mutation_p.P403S|EWSR1_ENST00000406548.1_Missense_Mutation_p.P458S|EWSR1_ENST00000332050.6_Missense_Mutation_p.P386S	p.P459S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			13	1694	+			459			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1375C>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.720924|4.720924	0.89205|0.89205	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|T;T;T;T;T;T	.|0.73575	.|1.34;-0.76;-0.76;-0.76;-0.76;-0.76	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Nucleotide-binding, alpha-beta plait (1);	.|0.065066	.|0.64402	.|U	.|0.000007	T|T	0.71298|0.71298	0.3323|0.3323	L|L	0.50333|0.50333	1.59|1.59	0.54753|0.54753	D|D	0.99998|0.99998	.|P;P;P;P;P	.|0.52316	.|0.952;0.952;0.952;0.952;0.952	.|B;B;B;B;B	.|0.42882	.|0.401;0.401;0.312;0.312;0.312	T|T	0.67745|0.67745	-0.5591|-0.5591	5|10	.|0.15952	.|T	.|0.53	.|.	20.0263|20.0263	0.97523|0.97523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|403;458;403;464;459	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	V|S	114|386;459;458;421;464;403	.|ENSP00000330896:P386S;ENSP00000381031:P459S;ENSP00000385726:P458S;ENSP00000330516:P421S;ENSP00000400142:P464S;ENSP00000331699:P403S	.|ENSP00000330516:P421S	A|P	+|+	2|1	0|0	EWSR1|EWSR1	28023897|28023897	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.954000|0.954000	0.61252|0.61252	6.778000|6.778000	0.75043|0.75043	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.493	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		22	39	0	0	0	1	0	22	39				
PEAK1	79834	broad.mit.edu	37	15	77450876	77450876	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77450876C>T	ENST00000560626.2	-	5	3775	c.3300G>A	c.(3298-3300)ccG>ccA	p.P1100P	PEAK1_ENST00000312493.4_Silent_p.P1100P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1100					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TACAAGGGTTCGGGTCCATAG	0.423																																						ENST00000560626.2																			0											c.(3298-3300)ccG>ccA		pseudopodium-enriched atypical kinase 1							172.0	157.0	162.0					15																	77450876		1923	4127	6050	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77450876C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3300G>A	15.37:g.77450876C>T						PEAK1_ENST00000312493.4_Silent_p.P1100P	p.P1100P			Q9H792	PEAK1_HUMAN			5	3775	-			1100					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.3300G>A	CCDS42062.1																																																																																				0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			28	32	0	0	0	1	0	28	32				
EML3	256364	broad.mit.edu	37	11	62370296	62370296	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62370296C>T	ENST00000394773.2	-	21	2729	c.2422G>A	c.(2422-2424)Gtg>Atg	p.V808M	EML3_ENST00000529309.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.V591M|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000494176.2_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.V809M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	808						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCGCCACCACGCGCTCGTTG	0.692																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2422-2424)Gtg>Atg		echinoderm microtubule associated protein like 3							16.0	18.0	17.0					11																	62370296		2199	4296	6495	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62370296C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2422G>A	11.37:g.62370296C>T	ENSP00000378254:p.Val808Met					EML3_ENST00000529309.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.V591M|EML3_ENST00000494176.2_Intron|EML3_ENST00000278845.4_Missense_Mutation_p.V809M	p.V808M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			21	2729	-			808					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2422G>A	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370191	0.61624	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557	T;T;T	0.41065	1.52;1.01;1.01	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	3.431830	0.01232	N	0.008365	T	0.52370	0.1730	L	0.41906	1.305	0.80722	D	1	D;P;P	0.60160	0.987;0.882;0.681	P;B;B	0.52514	0.701;0.14;0.116	T	0.35251	-0.9796	10	0.59425	D	0.04	.	11.7029	0.51581	0.0:0.8212:0.1788:0.0	.	808;591;809	Q32P44;G3V195;B7WPE2	EMAL3_HUMAN;.;.	M	808;809;591	ENSP00000378254:V808M;ENSP00000278845:V809M;ENSP00000433417:V591M	ENSP00000278845:V809M	V	-	1	0	EML3	62126872	0.167000	0.22975	1.000000	0.80357	0.983000	0.72400	0.623000	0.24447	2.341000	0.79615	0.561000	0.74099	GTG		0.692	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		3	10	0	0	0	1	0	3	10				
CSF1R	1436	broad.mit.edu	37	5	149460389	149460389	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149460389C>T	ENST00000286301.3	-	3	539	c.248G>A	c.(247-249)cGc>cAc	p.R83H	CSF1R_ENST00000543093.1_Missense_Mutation_p.R83H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	83	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCAGTGCAGCGATAGGTCCC	0.617																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(247-249)cGc>cAc		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						111.0	77.0	88.0					5																	149460389		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460389C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.248G>A	5.37:g.149460389C>T	ENSP00000286301:p.Arg83His					CSF1R_ENST00000543093.1_Missense_Mutation_p.R83H	p.R83H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	539	-			83			Ig-like C2-type 1.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.248G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	6.465	0.453970	0.12283	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.03242	4.0;4.0	5.17	-2.31	0.06765	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.408765	0.19679	N	0.108553	T	0.03520	0.0101	L	0.55990	1.75	0.22280	N	0.999233	B;B;B	0.23540	0.087;0.023;0.022	B;B;B	0.15484	0.01;0.013;0.004	T	0.46992	-0.9151	10	0.12766	T	0.61	.	10.7928	0.46443	0.0:0.4521:0.0:0.5479	.	83;83;83	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	H	83	ENSP00000286301:R83H;ENSP00000445282:R83H	ENSP00000286301:R83H	R	-	2	0	CSF1R	149440582	0.080000	0.21391	0.607000	0.28956	0.008000	0.06430	-0.986000	0.03747	-0.457000	0.07033	-1.202000	0.01658	CGC		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		7	7	0	0	0	1	0	7	7				
COIL	8161	broad.mit.edu	37	17	55027366	55027366	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:55027366G>A	ENST00000240316.4	-	2	1271	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	413	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CCTCTCCCCCGCATGCCCCGT	0.498																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1237-1239)Cgg>Tgg		coilin							80.0	83.0	82.0					17																	55027366		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027366G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1237C>T	17.37:g.55027366G>A	ENSP00000240316:p.Arg413Trp						p.R413W	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	1271	-	Breast(9;6.15e-08)		413			2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1237C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495624	0.26774	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.75	2.66	0.31614	.	1.030250	0.07756	N	0.949292	T	0.39809	0.1092	M	0.70275	2.135	0.20764	N	0.999853	P	0.36048	0.534	B	0.28991	0.097	T	0.31530	-0.9940	9	0.59425	D	0.04	-0.9235	6.8975	0.24265	0.144:0.0:0.7148:0.1412	.	413	P38432	COIL_HUMAN	W	413	.	ENSP00000240316:R413W	R	-	1	2	COIL	52382365	0.982000	0.34865	0.111000	0.21465	0.492000	0.33523	3.049000	0.49869	0.345000	0.23873	-0.253000	0.11424	CGG		0.498	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			17	17	0	0	0	1	0	17	17				
PTTG1	9232	broad.mit.edu	37	5	159849845	159849845	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159849845C>A	ENST00000393964.1	+	2	624	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	PTTG1_ENST00000520452.1_Missense_Mutation_p.S74Y|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Missense_Mutation_p.S74Y	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	74					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACAGAAAAGTCTGTAAAGACC	0.428																																						ENST00000393964.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(220-222)tCt>tAt		pituitary tumor-transforming 1							83.0	85.0	85.0					5																	159849845		2203	4300	6503	SO:0001583	missense	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159849845C>A	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.221C>A	5.37:g.159849845C>A	ENSP00000377536:p.Ser74Tyr					PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Missense_Mutation_p.S74Y|PTTG1_ENST00000520452.1_Missense_Mutation_p.S74Y	p.S74Y			O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	2	624	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	74						Missense_Mutation	SNP	ENST00000393964.1	37	c.221C>A	CCDS4353.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841639	0.32513	.	.	ENSG00000164611	ENST00000352433;ENST00000517480;ENST00000520452;ENST00000393964	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.58	2.64	0.31445	.	0.916504	0.09216	N	0.832580	T	0.53786	0.1818	L	0.57536	1.79	0.09310	N	1	P	0.49961	0.93	P	0.53988	0.739	T	0.39583	-0.9607	9	.	.	.	-1.7958	5.9857	0.19432	0.1401:0.6479:0.1356:0.0764	.	74	O95997	PTTG1_HUMAN	Y	74;84;74;74	ENSP00000344936:S74Y;ENSP00000431068:S84Y;ENSP00000430642:S74Y;ENSP00000377536:S74Y	.	S	+	2	0	PTTG1	159782423	0.001000	0.12720	0.004000	0.12327	0.028000	0.11728	0.362000	0.20284	1.313000	0.45069	0.655000	0.94253	TCT		0.428	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1	NM_004219		47	59	1	0	4.0181e-32	1	4.50694e-32	47	59				
CATSPER4	378807	broad.mit.edu	37	1	26524256	26524256	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26524256C>A	ENST00000456354.2	+	4	606	c.539C>A	c.(538-540)tCc>tAc	p.S180Y		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	180					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AATATTCCCTCCATCAACTAC	0.512																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(538-540)tCc>tAc		cation channel, sperm associated 4							84.0	75.0	78.0					1																	26524256		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524256C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.539C>A	1.37:g.26524256C>A	ENSP00000390423:p.Ser180Tyr						p.S180Y	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	4	606	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	180					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.539C>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595019	0.28445	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97752	-4.52;-4.52	5.0	1.93	0.25924	Ion transport (1);	1.698090	0.03566	N	0.227824	D	0.95981	0.8691	L	0.45137	1.4	0.09310	N	1	P	0.46327	0.876	P	0.44597	0.454	D	0.89183	0.3545	10	0.66056	D	0.02	3.0339	5.1452	0.14981	0.0:0.6368:0.1702:0.193	.	180	Q7RTX7	CTSR4_HUMAN	Y	180	ENSP00000341006:S180Y;ENSP00000390423:S180Y	ENSP00000341006:S180Y	S	+	2	0	CATSPER4	26396843	0.000000	0.05858	0.025000	0.17156	0.013000	0.08279	0.360000	0.20250	0.099000	0.17552	0.563000	0.77884	TCC		0.512	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		19	29	1	0	2.39187e-15	1	2.6178e-15	19	29				
PLK1	5347	broad.mit.edu	37	16	23702664	23702664	+	IGR	SNP	C	C	A	rs372092990		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23702664C>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R768L|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.R868L	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAGTTGTCCCGGACCACTGC	0.682																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2602-2604)cGg>cTg		endoplasmic reticulum to nucleus signaling 2							40.0	41.0	41.0					16																	23702664		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702664C>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702664C>A						ERN2_ENST00000457008.2_Missense_Mutation_p.R768L	p.R868L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	20	2771	-			820			KEN.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2603G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082181	0.36758	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.29917	1.55;1.55	5.81	4.86	0.63082	.	0.066246	0.64402	D	0.000008	T	0.52273	0.1724	M	0.69823	2.125	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.97110	0.975;1.0	T	0.50136	-0.8863	10	0.32370	T	0.25	.	12.7075	0.57070	0.0:0.9203:0.0:0.0797	.	768;820	E7ETG2;A5YM65	.;.	L	868;768	ENSP00000256797:R868L;ENSP00000413812:R768L	ENSP00000256797:R868L	R	-	2	0	ERN2	23610165	0.272000	0.24172	0.928000	0.36995	0.036000	0.12997	0.903000	0.28475	1.463000	0.47967	-0.140000	0.14226	CGG		0.682	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		15	9	1	0	3.45872e-05	1	3.56558e-05	15	9				
ZNF883	169834	broad.mit.edu	37	9	115760169	115760169	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115760169G>A	ENST00000427548.1	-	0	1644							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACAAGGATAGGGTTTTTCTCC	0.373																																						ENST00000427548.1																			0													zinc finger protein 883							65.0	70.0	68.0					9																	115760169		2173	4288	6461			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760169G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760169G>A										P0CG24	ZN883_HUMAN			0	1644	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		12	17	0	0	0	1	0	12	17				
NPAS4	266743	broad.mit.edu	37	11	66191876	66191876	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66191876C>A	ENST00000311034.2	+	7	1691	c.1515C>A	c.(1513-1515)acC>acA	p.T505T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	505					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCCCTGCACCTCCACCTTCC	0.587																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1513-1515)acC>acA		neuronal PAS domain protein 4							198.0	194.0	195.0					11																	66191876		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191876C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1515C>A	11.37:g.66191876C>A							p.T505T	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1691	+			505					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1515C>A	CCDS8138.1																																																																																				0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		71	108	1	0	2.23852e-25	1	2.49964e-25	71	108				
P2RY4	5030	broad.mit.edu	37	X	69478929	69478929	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69478929G>A	ENST00000374519.2	-	1	725	c.546C>T	c.(544-546)acC>acT	p.T182T		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	182					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCACAGGACGGTGGTCCCTT	0.602																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(544-546)acC>acT		pyrimidinergic receptor P2Y, G-protein coupled, 4							86.0	78.0	81.0					X																	69478929		2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478929G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.546C>T	X.37:g.69478929G>A							p.T182T	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	725	-			182					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.546C>T	CCDS14398.1																																																																																				0.602	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		13	4	0	0	0	1	0	13	4				
IL17RD	54756	broad.mit.edu	37	3	57132270	57132270	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1459-1461)gaC>gaT		interleukin 17 receptor D							63.0	56.0	58.0					3																	57132270		2203	4300	6503	SO:0001819	synonymous_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57132270G>A	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1461C>T	3.37:g.57132270G>A						IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	p.D487D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1549	-			487			SEFIR.		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	c.1461C>T	CCDS2880.2																																																																																				0.567	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		11	13	0	0	0	1	0	11	13				
PRX	57716	broad.mit.edu	37	19	40899994	40899994	+	Missense_Mutation	SNP	C	C	T	rs142436702	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40899994C>T	ENST00000324001.7	-	7	4535	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1422					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCCCACTCCGGGCCTTGGG	0.687																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4264-4266)cGg>cAg		periaxin		C	,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	54.0	64.0	61.0		,4265	1.2	1.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,43	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,probably-damaging	,1422/1462	40899994	4,13002	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40899994C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4265G>A	19.37:g.40899994C>T	ENSP00000326018:p.Arg1422Gln					PRX_ENST00000291825.7_3'UTR	p.R1422Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4535	-			1422					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.4265G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650836	0.29336	6.81E-4	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02085	4.46	4.67	1.2	0.21068	.	0.627824	0.14245	N	0.331830	T	0.00936	0.0031	N	0.08118	0	0.80722	D	1	B	0.34181	0.44	B	0.21917	0.037	T	0.60362	-0.7278	10	0.15952	T	0.53	-6.842	3.1724	0.06556	0.0:0.4871:0.2231:0.2899	.	1422	Q9BXM0	PRAX_HUMAN	Q	1422;1357	ENSP00000326018:R1422Q	ENSP00000326018:R1422Q	R	-	2	0	PRX	45591834	0.001000	0.12720	0.996000	0.52242	0.996000	0.88848	-0.683000	0.05179	0.587000	0.29643	0.655000	0.94253	CGG		0.687	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		6	45	0	0	0	1	0	6	45				
LENG8	114823	broad.mit.edu	37	19	54965781	54965781	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54965781C>T	ENST00000326764.5	+	6	1078	c.599C>T	c.(598-600)aCg>aTg	p.T200M	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	163										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGCCCGCCACGGGCCAGGCC	0.642																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(598-600)aCg>aTg		leukocyte receptor cluster (LRC) member 8							13.0	13.0	13.0					19																	54965781		2085	4155	6240	SO:0001583	missense	114823						protein binding	g.chr19:54965781C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.599C>T	19.37:g.54965781C>T	ENSP00000318374:p.Thr200Met					LENG8_ENST00000376514.2_Intron	p.T200M	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	1078	+	Ovarian(34;0.19)		163					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.599C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451963	0.26074	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.46451	1.48;0.87;1.46;1.44	4.85	3.79	0.43588	.	2.094530	0.02205	N	0.062618	T	0.36690	0.0976	L	0.36672	1.1	0.23304	N	0.997942	P;P	0.46020	0.481;0.871	B;B	0.38225	0.268;0.216	T	0.33675	-0.9859	10	0.36615	T	0.2	0.5162	9.8721	0.41180	0.0:0.8927:0.0:0.1073	.	200;163	Q96PV6-2;F8W9Q9	.;.	M	200;163;200;163;200	ENSP00000318374:T200M;ENSP00000399507:T200M;ENSP00000365709:T163M;ENSP00000388053:T200M	ENSP00000301196:T163M	T	+	2	0	LENG8	59657593	0.004000	0.15560	0.002000	0.10522	0.442000	0.32017	1.947000	0.40293	1.328000	0.45358	0.655000	0.94253	ACG		0.642	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		5	10	0	0	0	1	0	5	10				
HNRNPH3	3189	broad.mit.edu	37	10	70101422	70101422	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70101422G>A	ENST00000265866.7	+	8	1021	c.856G>A	c.(856-858)Gga>Aga	p.G286R	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271R|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178R	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	286	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GGGAGGCTACGGAAGAGATGG	0.363																																						ENST00000265866.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						c.(856-858)Gga>Aga		heterogeneous nuclear ribonucleoprotein H3 (2H9)							96.0	102.0	100.0					10																	70101422		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70101422G>A		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.856G>A	10.37:g.70101422G>A	ENSP00000265866:p.Gly286Arg					HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G271R|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G178R|HNRNPH3_ENST00000469172.1_3'UTR	p.G286R	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN			8	1021	+			286			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.856G>A	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084304	0.55861	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.15952	2.74;2.38;2.56	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	L	0.58810	1.83	0.80722	D	1	D;D;D	0.57899	0.968;0.981;0.968	B;P;B	0.47402	0.382;0.546;0.382	T	0.00531	-1.1686	10	0.39692	T	0.17	.	13.048	0.58937	0.0733:0.0:0.9267:0.0	.	178;271;286	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	R	286;178;271	ENSP00000265866:G286R;ENSP00000409869:G178R;ENSP00000346726:G271R	ENSP00000265866:G286R	G	+	1	0	HNRNPH3	69771428	1.000000	0.71417	0.990000	0.47175	0.952000	0.60782	4.858000	0.62947	2.668000	0.90789	0.563000	0.77884	GGA		0.363	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			29	35	0	0	0	1	0	29	35				
PRR12	57479	broad.mit.edu	37	19	50097976	50097976	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50097976G>T	ENST00000418929.2	+	4	396	c.384G>T	c.(382-384)acG>acT	p.T128T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGGCCCCACGGAGCTCTTCA	0.677																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(382-384)acG>acT		proline rich 12							27.0	31.0	30.0					19																	50097976		2037	4185	6222	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50097976G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.384G>T	19.37:g.50097976G>T							p.T128T	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	396	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	542			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.384G>T	CCDS46143.1																																																																																				0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		12	17	1	0	2.27111e-07	1	2.37911e-07	12	17				
KANSL1	284058	broad.mit.edu	37	17	44171967	44171967	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44171967G>A	ENST00000262419.6	-	3	1860	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	KANSL1_ENST00000572904.1_Missense_Mutation_p.R464C|KANSL1_ENST00000575318.1_Missense_Mutation_p.R464C|KANSL1_ENST00000574590.1_Missense_Mutation_p.R464C|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.R464C	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	464					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTTTGCTGACGAATTCGATAT	0.438																																						ENST00000262419.6																			0											c.(1390-1392)Cgt>Tgt		KAT8 regulatory NSL complex subunit 1							119.0	134.0	129.0					17																	44171967		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44171967G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1390C>T	17.37:g.44171967G>A	ENSP00000262419:p.Arg464Cys					KANSL1_ENST00000574590.1_Missense_Mutation_p.R464C|KANSL1_ENST00000575318.1_Missense_Mutation_p.R464C|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.R464C|KANSL1_ENST00000432791.1_Missense_Mutation_p.R464C	p.R464C	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			3	1860	-			464					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1390C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766087	0.69878	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20598	2.06;2.06	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	M	0.77616	2.38	0.80722	D	1	B;P	0.37038	0.119;0.579	B;B	0.30716	0.027;0.119	T	0.26087	-1.0113	10	0.87932	D	0	-9.596	17.1421	0.86756	0.0:0.0:1.0:0.0	.	464;464	C9JHY2;Q7Z3B3	.;K1267_HUMAN	C	464	ENSP00000262419:R464C;ENSP00000387393:R464C	ENSP00000262419:R464C	R	-	1	0	KIAA1267	41527784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.069000	0.93967	2.449000	0.82847	0.655000	0.94253	CGT		0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		37	98	0	0	0	1	0	37	98				
FOXD4L3	286380	broad.mit.edu	37	9	70918906	70918906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:70918906C>T	ENST00000342833.2	+	1	1631	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	347						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AATTTGTCCCCGACCGCGTGG	0.637																																						ENST00000342833.2																			0				ovary(1)	1						c.(1039-1041)Cga>Tga		forkhead box D4-like 3							74.0	97.0	89.0					9																	70918906		2201	4294	6495	SO:0001587	stop_gained	286380					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:70918906C>T	AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.1039C>T	9.37:g.70918906C>T	ENSP00000341961:p.Arg347*						p.R347*	NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	1	1631	+			347					Q5JTX9	Nonsense_Mutation	SNP	ENST00000342833.2	37	c.1039C>T	CCDS43833.1	.	.	.	.	.	.	.	.	.	.	.	40	8.172096	0.98688	.	.	ENSG00000187559	ENST00000342833	.	.	.	4.04	0.873	0.19118	.	0.216748	0.22176	U	0.063565	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8752	0.13653	0.1726:0.6087:0.0:0.2187	.	.	.	.	X	347	.	ENSP00000341961:R347X	R	+	1	2	FOXD4L3	70108726	0.000000	0.05858	0.004000	0.12327	0.476000	0.33039	0.010000	0.13242	0.239000	0.21243	0.455000	0.32223	CGA		0.637	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052539.2	NM_199358		41	55	0	0	0	1	0	41	55				
DNAH8	1769	broad.mit.edu	37	6	38791409	38791409	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:38791409G>T	ENST00000359357.3	+	26	3395	c.3141G>T	c.(3139-3141)caG>caT	p.Q1047H	DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1264H|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1047H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1047					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTTGAACAGGAGATTGATG	0.313																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3139-3141)caG>caT		dynein, axonemal, heavy chain 8							97.0	97.0	97.0					6																	38791409		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38791409G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3141G>T	6.37:g.38791409G>T	ENSP00000352312:p.Gln1047His					DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1264H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1047H	p.Q1047H							26	3395	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3141G>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289084	0.40494	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26223	1.79;1.78;1.75	5.82	0.223	0.15292	.	0.304687	0.31577	N	0.007405	T	0.10594	0.0259	M	0.61703	1.905	0.36296	D	0.856713	B	0.21688	0.059	B	0.18561	0.022	T	0.05053	-1.0909	10	0.49607	T	0.09	.	7.7471	0.28875	0.6392:0.0:0.3608:0.0	.	1047	Q96JB1	DYH8_HUMAN	H	1252;1252;1047;1047	ENSP00000333363:Q1252H;ENSP00000352312:Q1047H;ENSP00000402294:Q1047H	ENSP00000333363:Q1252H	Q	+	3	2	DNAH8	38899387	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.272000	0.43373	0.091000	0.17302	0.563000	0.77884	CAG		0.313	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	43	1	0	2.65835e-16	1	2.91848e-16	30	43				
ARHGEF19	128272	broad.mit.edu	37	1	16534187	16534187	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16534187G>A	ENST00000270747.3	-	4	916	c.780C>T	c.(778-780)ggC>ggT	p.G260G	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	260					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGGACCAATCGCCCTCTCGTG	0.632																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(778-780)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 19							57.0	58.0	58.0					1																	16534187		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534187G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.780C>T	1.37:g.16534187G>A						ARHGEF19_ENST00000421561.1_Silent_p.G260G	p.G260G	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	916	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	260					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.780C>T	CCDS170.1																																																																																				0.632	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		22	30	0	0	0	1	0	22	30				
WHSC1	7468	broad.mit.edu	37	4	1957835	1957835	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1957835C>T	ENST00000382895.3	+	17	3232	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	WHSC1_ENST00000382891.5_Missense_Mutation_p.A934V|WHSC1_ENST00000508803.1_Missense_Mutation_p.A934V|WHSC1_ENST00000382888.3_Missense_Mutation_p.A282V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.A934V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	934	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACGCATCAGGCGCGAGTGTTC	0.493			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2800-2802)gCg>gTg		Wolf-Hirschhorn syndrome candidate 1							112.0	133.0	126.0					4																	1957835		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957835C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2801C>T	4.37:g.1957835C>T	ENSP00000372351:p.Ala934Val					WHSC1_ENST00000508803.1_Missense_Mutation_p.A934V|WHSC1_ENST00000382891.5_Missense_Mutation_p.A934V|WHSC1_ENST00000382892.2_Missense_Mutation_p.A934V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A282V	p.A934V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	17	3232	+		all_epithelial(65;1.34e-05)	934			PWWP 2.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2801C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085893	0.94100	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.76	5.76	0.90799	PWWP (3);	0.000000	0.64402	D	0.000020	T	0.56587	0.1995	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.947;0.975	T	0.56402	-0.7985	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	282;934	A2A2T2;O96028	.;NSD2_HUMAN	V	934;934;934;934;282	ENSP00000423972:A934V;ENSP00000372347:A934V;ENSP00000372348:A934V;ENSP00000372351:A934V;ENSP00000372344:A282V	ENSP00000372344:A282V	A	+	2	0	WHSC1	1927633	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.185000	0.58330	2.726000	0.93360	0.655000	0.94253	GCG		0.493	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		86	104	0	0	0	1	0	86	104				
SLC7A1	6541	broad.mit.edu	37	13	30091325	30091325	+	Missense_Mutation	SNP	C	C	T	rs548607156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:30091325C>T	ENST00000380752.5	-	11	2019	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	545					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGATGACGCCCGTGACC	0.612																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(1633-1635)Gtc>Atc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						37.0	36.0	36.0					13																	30091325		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091325C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1633G>A	13.37:g.30091325C>T	ENSP00000370128:p.Val545Ile					SLC7A1_ENST00000473577.1_5'UTR	p.V545I	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	11	2019	-		Lung SC(185;0.0257)|Breast(139;0.238)	545					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1633G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	2.559	-0.302199	0.05495	.	.	ENSG00000139514	ENST00000380752	D	0.85556	-2.0	4.6	-2.28	0.06826	.	0.382176	0.28996	N	0.013469	T	0.59293	0.2183	N	0.10733	0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53982	-0.8361	10	0.02654	T	1	.	6.5612	0.22487	0.0:0.4038:0.1361:0.4601	.	545	P30825	CTR1_HUMAN	I	545	ENSP00000370128:V545I	ENSP00000370128:V545I	V	-	1	0	SLC7A1	28989325	0.000000	0.05858	0.090000	0.20809	0.189000	0.23516	-0.741000	0.04855	-0.130000	0.11599	-0.291000	0.09656	GTC		0.612	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		16	17	0	0	0	1	0	16	17				
GRAP2	9402	broad.mit.edu	37	22	40365471	40365471	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40365471C>T	ENST00000344138.4	+	7	1010	c.747C>T	c.(745-747)ggC>ggT	p.G249G	GRAP2_ENST00000543252.1_Silent_p.G209G|GRAP2_ENST00000544756.1_Silent_p.G177G|GRAP2_ENST00000540310.1_Silent_p.G183G|GRAP2_ENST00000407075.3_Silent_p.G249G|GRAP2_ENST00000399090.2_Silent_p.G136G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	249					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCTTGGGCAGTGAAATGA	0.577																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(745-747)ggC>ggT		GRB2-related adaptor protein 2							128.0	109.0	115.0					22																	40365471		2203	4300	6503	SO:0001819	synonymous_variant	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40365471C>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.747C>T	22.37:g.40365471C>T						GRAP2_ENST00000540310.1_Silent_p.G183G|GRAP2_ENST00000407075.3_Silent_p.G249G|GRAP2_ENST00000399090.2_Silent_p.G136G|GRAP2_ENST00000544756.1_Silent_p.G177G|GRAP2_ENST00000543252.1_Silent_p.G209G	p.G249G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			7	1010	+			249					B7Z8I3|O43726|Q9NRB7	Silent	SNP	ENST00000344138.4	37	c.747C>T	CCDS13999.1																																																																																				0.577	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		19	27	0	0	0	1	0	19	27				
SHANK2	22941	broad.mit.edu	37	11	70333321	70333321	+	Missense_Mutation	SNP	G	G	A	rs377120070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70333321G>A	ENST00000423696.2	-	15	1976	c.1940C>T	c.(1939-1941)aCg>aTg	p.T647M	SHANK2_ENST00000409161.1_Missense_Mutation_p.T430M|SHANK2_ENST00000338508.4_Missense_Mutation_p.T1027M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T431M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	647					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GATGGAGCACGTCTTCTCGGG	0.652																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3079-3081)aCg>aTg		SH3 and multiple ankyrin repeat domains 2		G	MET/THR,MET/THR	0,4400		0,0,2200	110.0	108.0	109.0		2931,1313	4.9	1.0	11		109	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	SHANK2	NM_012309.3,NM_133266.3	81,81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1026/1850,438/1262	70333321	1,12987	2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333321G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1940C>T	11.37:g.70333321G>A	ENSP00000394536:p.Thr647Met					SHANK2_ENST00000423696.2_Missense_Mutation_p.T647M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T431M|SHANK2_ENST00000409161.1_Missense_Mutation_p.T430M	p.T1027M			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3079	-			647					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3080C>T		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101883	0.56183	0.0	1.16E-4	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42131	2.28;2.28;2.98;0.98;2.37;2.39	4.87	4.87	0.63330	.	0.171605	0.49916	D	0.000127	T	0.60547	0.2277	M	0.73598	2.24	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.982	P;D;P	0.64042	0.84;0.921;0.868	T	0.63950	-0.6521	10	0.56958	D	0.05	.	12.4635	0.55745	0.0812:0.0:0.9188:0.0	.	647;1026;431	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	M	431;430;305;1027;647;665;650	ENSP00000399423:T431M;ENSP00000386491:T430M;ENSP00000402944:T305M;ENSP00000345193:T1027M;ENSP00000394536:T647M;ENSP00000294018:T650M	ENSP00000294018:T650M	T	-	2	0	SHANK2	70010969	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.147000	0.64851	2.271000	0.75665	0.561000	0.74099	ACG		0.652	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		37	52	0	0	0	1	0	37	52				
GOLGB1	2804	broad.mit.edu	37	3	121415986	121415986	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121415986C>A	ENST00000340645.5	-	13	3494	c.3369G>T	c.(3367-3369)caG>caT	p.Q1123H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q1128H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1123					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGATTAACTTCTGGATAATTG	0.418																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3382-3384)caG>caT		golgin B1							203.0	178.0	187.0					3																	121415986		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415986C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3369G>T	3.37:g.121415986C>A	ENSP00000341848:p.Gln1123His					GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1123H	p.Q1128H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3494	-			1123					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3384G>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.654|3.654	-0.070943|-0.070943	0.07228|0.07228	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.25085|.	2.41;2.41;1.82|.	5.24|5.24	0.814|0.814	0.18756|0.18756	.|.	0.217169|.	0.32868|.	N|.	0.005545|.	T|T	0.42698|0.42698	0.1214|0.1214	L|L	0.34521|0.34521	1.04|1.04	0.39936|0.39936	D|D	0.974356|0.974356	B;B;B;B;B|.	0.15930|.	0.007;0.003;0.015;0.003;0.007|.	B;B;B;B;B|.	0.17433|.	0.011;0.006;0.018;0.006;0.01|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|5	0.51188|.	T|.	0.08|.	.|.	7.2701|7.2701	0.26252|0.26252	0.0:0.4978:0.0:0.5022|0.0:0.4978:0.0:0.5022	.|.	1048;1087;1128;1128;1123|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	H|I	1123;1128;1087;935|994	ENSP00000341848:Q1123H;ENSP00000377275:Q1128H;ENSP00000418231:Q1087H|.	ENSP00000341848:Q1123H|.	Q|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122898676|122898676	0.339000|0.339000	0.24784|0.24784	1.000000|1.000000	0.80357|0.80357	0.650000|0.650000	0.38633|0.38633	-0.505000|-0.505000	0.06367|0.06367	0.268000|0.268000	0.21939|0.21939	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		17	111	1	0	3.45872e-05	1	3.56558e-05	17	111				
IPO9	55705	broad.mit.edu	37	1	201835898	201835898	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201835898G>A	ENST00000361565.4	+	15	1735	c.1666G>A	c.(1666-1668)Gtg>Atg	p.V556M		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	556					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GAGTACCCACGTGCTCCAGCC	0.453																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1666-1668)Gtg>Atg		importin 9							116.0	120.0	119.0					1																	201835898		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201835898G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1666G>A	1.37:g.201835898G>A	ENSP00000354742:p.Val556Met						p.V556M	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			15	1735	+			556					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1666G>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460826	0.43736	.	.	ENSG00000198700	ENST00000361565	T	0.68479	-0.33	5.84	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.117336	0.64402	D	0.000020	T	0.45955	0.1368	N	0.21448	0.665	0.58432	D	0.999999	P	0.37688	0.605	B	0.19391	0.025	T	0.45440	-0.9261	10	0.31617	T	0.26	-11.8837	12.8372	0.57780	0.0791:0.0:0.9209:0.0	.	556	Q96P70	IPO9_HUMAN	M	556	ENSP00000354742:V556M	ENSP00000354742:V556M	V	+	1	0	IPO9	200102521	1.000000	0.71417	0.911000	0.35937	0.956000	0.61745	4.986000	0.63851	1.472000	0.48140	0.591000	0.81541	GTG		0.453	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		28	41	0	0	0	1	0	28	41				
PI4K2A	55361	broad.mit.edu	37	10	99426869	99426869	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99426869C>T	ENST00000370631.3	+	8	1327	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	PI4K2A_ENST00000555577.1_Missense_Mutation_p.R394W|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R394W	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	424	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TGCTGTCATGCGGGGCCAGGT	0.498																																						ENST00000370631.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1270-1272)Cgg>Tgg		phosphatidylinositol 4-kinase type 2 alpha							146.0	134.0	138.0					10																	99426869		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426869C>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1270C>T	10.37:g.99426869C>T	ENSP00000359665:p.Arg424Trp					PI4K2A_ENST00000370649.3_Missense_Mutation_p.R394W|PI4K2A_ENST00000555577.1_Missense_Mutation_p.R394W	p.R424W	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	8	1327	+		Colorectal(252;0.162)	424			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1270C>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722452	0.48728	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	D;D	0.89415	-2.51;-2.51	5.36	1.89	0.25635	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.91300	3.195	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95480	0.8559	10	0.87932	D	0	-14.3038	14.4906	0.67647	0.6438:0.3562:0.0:0.0	.	394;394;424	E9PAM4;B4DEP8;Q9BTU6	.;.;P4K2A_HUMAN	W	394;424;394	ENSP00000452243:R394W;ENSP00000359683:R394W	ENSP00000359665:R424W	R	+	1	2	PI4K2A;RP11-548K23.11	99416859	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.864000	0.48404	0.438000	0.26450	0.462000	0.41574	CGG		0.498	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425		39	60	0	0	0	1	0	39	60				
KIF13B	23303	broad.mit.edu	37	8	28967440	28967440	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28967440G>A	ENST00000524189.1	-	33	4116	c.4078C>T	c.(4078-4080)Cgc>Tgc	p.R1360C	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1360					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTAACCTGGCGCAGACGATCT	0.512																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(4078-4080)Cgc>Tgc		kinesin family member 13B							47.0	47.0	47.0					8																	28967440		2001	4173	6174	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28967440G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4078C>T	8.37:g.28967440G>A	ENSP00000427900:p.Arg1360Cys						p.R1360C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	33	4116	-		Ovarian(32;0.000536)	1360					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.4078C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351304	0.61183	.	.	ENSG00000197892	ENST00000524189	D	0.83506	-1.73	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90880	0.4753	10	0.87932	D	0	.	18.8062	0.92038	0.0:0.0:1.0:0.0	.	1360	F8VPJ2	.	C	1360	ENSP00000427900:R1360C	ENSP00000427900:R1360C	R	-	1	0	KIF13B	29023359	1.000000	0.71417	0.970000	0.41538	0.480000	0.33159	5.418000	0.66429	2.666000	0.90696	0.655000	0.94253	CGC		0.512	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			9	14	0	0	0	1	0	9	14				
MUC5B	727897	broad.mit.edu	37	11	1250942	1250942	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1250942G>A	ENST00000529681.1	+	10	1183	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	MUC5B_ENST00000447027.1_Silent_p.T378T|MUC5B_ENST00000531082.1_3'UTR	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	375	TIL 1.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGACATCACGCACTCTGGCT	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(1132-1134)acG>acA		mucin 5B, oligomeric mucus/gel-forming							15.0	18.0	17.0					11																	1250942		2119	4214	6333	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1250942G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1125G>A	11.37:g.1250942G>A						MUC5B_ENST00000529681.1_Silent_p.T375T|MUC5B_ENST00000531082.1_3'UTR	p.T378T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	10	1192	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	375			TIL 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.1134G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	7	0	0	0	1	0	3	7				
KCNC1	3746	broad.mit.edu	37	11	17757921	17757921	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17757921C>T	ENST00000379472.3	+	1	402	c.372C>T	c.(370-372)ggC>ggT	p.G124G	KCNC1_ENST00000265969.6_Silent_p.G124G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	124					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCTTCGGCGGCGCTCCTCTGG	0.706																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(370-372)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 1							15.0	19.0	18.0					11																	17757921		2193	4288	6481	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757921C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.372C>T	11.37:g.17757921C>T						KCNC1_ENST00000265969.6_Silent_p.G124G	p.G124G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	402	+			124					K4DI87	Silent	SNP	ENST00000379472.3	37	c.372C>T	CCDS7827.1																																																																																				0.706	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		11	8	0	0	0	1	0	11	8				
SPECC1L	23384	broad.mit.edu	37	22	24726235	24726235	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24726235G>A	ENST00000314328.9	+	8	2517	c.2232G>A	c.(2230-2232)gcG>gcA	p.A744A	SPECC1L_ENST00000541492.1_Silent_p.A744A|SPECC1L_ENST00000437398.1_Silent_p.A744A|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.A744A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	744					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGAATCTGCGGAATGGCGGC	0.363																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2230-2232)gcG>gcA		sperm antigen with calponin homology and coiled-coil domains 1-like							89.0	100.0	96.0					22																	24726235		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24726235G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2232G>A	22.37:g.24726235G>A						KB-1896H10.1_ENST00000358654.2_Silent_p.A744A|SPECC1L_ENST00000541492.1_Silent_p.A744A|SPECC1L_ENST00000437398.1_Silent_p.A744A	p.A744A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			8	2517	+			744					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.2232G>A	CCDS33619.1																																																																																				0.363	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		49	81	0	0	0	1	0	49	81				
ACADSB	36	broad.mit.edu	37	10	124813214	124813214	+	Missense_Mutation	SNP	C	C	T	rs374629804		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124813214C>T	ENST00000358776.4	+	11	1246	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	ACADSB_ENST00000368869.4_Missense_Mutation_p.T309M	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	411					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GCTTAAGGTACGATATATGAA	0.443																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1231-1233)aCg>aTg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)	C	MET/THR	0,4406		0,0,2203	152.0	138.0	143.0		1232	4.7	1.0	10		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACADSB	NM_001609.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	411/433	124813214	1,13005	2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124813214C>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1232C>T	10.37:g.124813214C>T	ENSP00000357873:p.Thr411Met					ACADSB_ENST00000368869.4_Missense_Mutation_p.T309M	p.T411M	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	11	1246	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	411					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.1232C>T	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060852	0.76074	0.0	1.16E-4	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.96522	-4.04;-4.04	5.61	4.7	0.59300	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.331422	0.35436	N	0.003210	D	0.97300	0.9117	L	0.59912	1.85	0.53688	D	0.999976	D	0.76494	0.999	D	0.72338	0.977	D	0.97757	1.0218	10	0.72032	D	0.01	.	14.4665	0.67488	0.0:0.9283:0.0:0.0717	.	411	P45954	ACDSB_HUMAN	M	309;411	ENSP00000357862:T309M;ENSP00000357873:T411M	ENSP00000357873:T411M	T	+	2	0	ACADSB	124803204	0.849000	0.29639	0.965000	0.40720	0.858000	0.48976	4.508000	0.60441	1.349000	0.45751	0.643000	0.83706	ACG		0.443	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		21	57	0	0	0	1	0	21	57				
FMNL3	91010	broad.mit.edu	37	12	50045745	50045745	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50045745G>A	ENST00000293590.5	-	14	1807	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	FMNL3_ENST00000335154.5_Missense_Mutation_p.P525L|FMNL3_ENST00000550488.1_Missense_Mutation_p.P525L|FMNL3_ENST00000352151.5_Missense_Mutation_p.P474L			Q8IVF7	FMNL3_HUMAN	formin-like 3	525	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGGGGGCAAGGGCGGAGCTGG	0.647																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1573-1575)cCc>cTc		formin-like 3							15.0	18.0	17.0					12																	50045745		1955	4126	6081	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045745G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1574C>T	12.37:g.50045745G>A	ENSP00000293590:p.Pro525Leu					FMNL3_ENST00000550488.1_Missense_Mutation_p.P525L|FMNL3_ENST00000352151.5_Missense_Mutation_p.P474L|FMNL3_ENST00000293590.5_Missense_Mutation_p.P525L	p.P525L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			14	1807	-			525			Pro-rich.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1574C>T		.	.	.	.	.	.	.	.	.	.	G	16.62	3.174168	0.57692	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.18	5.18	0.71444	.	0.117637	0.64402	N	0.000020	D	0.82870	0.5131	L	0.48642	1.525	0.80722	D	1	P;P;P	0.46064	0.872;0.872;0.798	B;B;B	0.41813	0.278;0.367;0.144	D	0.84525	0.0630	10	0.51188	T	0.08	.	17.8417	0.88717	0.0:0.0:1.0:0.0	.	474;525;525	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	L	525;525;474;525	ENSP00000335655:P525L;ENSP00000447479:P525L;ENSP00000344311:P474L;ENSP00000293590:P525L	ENSP00000293590:P525L	P	-	2	0	FMNL3	48332012	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.817000	0.75252	2.586000	0.87340	0.561000	0.74099	CCC		0.647	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		4	13	0	0	0	1	0	4	13				
ECM2	1842	broad.mit.edu	37	9	95258764	95258764	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95258764T>C	ENST00000344604.5	-	10	2082	c.1933A>G	c.(1933-1935)Aac>Gac	p.N645D	ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	645					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GGAAGAATGTTCCTAAGGAAA	0.303																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e10-1		extracellular matrix protein 2, female organ and adipocyte specific							55.0	55.0	55.0					9																	95258764		2203	4297	6500	SO:0001630	splice_region_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95258764T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1932-1A>G	9.37:g.95258764T>C						ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	p.N645_splice	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			10	2082	-			645					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Splice_Site	SNP	ENST00000344604.5	37	c.1931_splice	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427825	0.43122	.	.	ENSG00000106823	ENST00000344604	T	0.00848	5.62	5.44	2.91	0.33838	.	0.350509	0.28847	N	0.013944	T	0.00724	0.0024	N	0.10664	0.02	0.80722	D	1	B;B	0.30068	0.267;0.19	B;B	0.35971	0.215;0.067	T	0.67473	-0.5662	10	0.12103	T	0.63	.	10.8441	0.46733	0.0:0.0:0.2963:0.7037	.	645;623	O94769;B4DK93	ECM2_HUMAN;.	D	645	ENSP00000344758:N645D	ENSP00000344758:N645D	N	-	1	0	ECM2	94298585	0.501000	0.26099	0.998000	0.56505	0.981000	0.71138	0.367000	0.20382	0.985000	0.38656	0.533000	0.62120	AAC		0.303	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	Missense_Mutation	18	27	0	0	0	1	0	18	27				
MMP12	4321	broad.mit.edu	37	11	102742654	102742654	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102742654G>A	ENST00000532855.1	-	0	475							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ACATCCTCACGGTTCATGTCA	0.378																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						69.0	67.0	68.0					11																	102742654		1916	4140	6056			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742654G>A	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742654G>A										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	475	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.378	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	9	0	0	0	1	0	4	9				
NFATC1	4772	broad.mit.edu	37	18	77193714	77193714	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77193714G>A	ENST00000427363.2	+	3	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S	NFATC1_ENST00000318065.5_Silent_p.S441S|NFATC1_ENST00000542384.1_Silent_p.S454S|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000591814.1_Silent_p.S454S|NFATC1_ENST00000592223.1_Silent_p.S441S|NFATC1_ENST00000253506.5_Silent_p.S454S|NFATC1_ENST00000587635.1_Silent_p.S454S|NFATC1_ENST00000329101.4_Silent_p.S441S|NFATC1_ENST00000586434.1_Silent_p.S441S|NFATC1_ENST00000397790.2_5'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	454	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S441S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGAAGGCGTCGGCCGGAGGAC	0.622																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			1	Substitution - coding silent(1)	p.S441S(1)	endometrium(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1360-1362)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							50.0	52.0	52.0					18																	77193714		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193714G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1362G>A	18.37:g.77193714G>A						NFATC1_ENST00000329101.4_Silent_p.S441S|NFATC1_ENST00000427363.2_Silent_p.S454S|NFATC1_ENST00000542384.1_Silent_p.S454S|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Silent_p.S454S|NFATC1_ENST00000592223.1_Silent_p.S441S|NFATC1_ENST00000591814.1_Silent_p.S454S|NFATC1_ENST00000318065.5_Silent_p.S441S|NFATC1_ENST00000586434.1_Silent_p.S441S|NFATC1_ENST00000545796.1_5'UTR	p.S454S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1731	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	454			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1362G>A																																																																																					0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		6	40	0	0	0	1	0	6	40				
UTP20	27340	broad.mit.edu	37	12	101702086	101702086	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101702086G>A	ENST00000261637.4	+	18	2293	c.2119G>A	c.(2119-2121)Gta>Ata	p.V707I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	707					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V707I(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACATGATGTGGTACAGACTGC	0.393																																						ENST00000261637.4																			1	Substitution - Missense(1)	p.V707I(1)	endometrium(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2119-2121)Gta>Ata		UTP20, small subunit (SSU) processome component, homolog (yeast)							120.0	116.0	118.0					12																	101702086		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101702086G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2119G>A	12.37:g.101702086G>A	ENSP00000261637:p.Val707Ile						p.V707I	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			18	2293	+			707					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.2119G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550621	0.45383	.	.	ENSG00000120800	ENST00000261637	T	0.18657	2.2	5.71	5.71	0.89125	Armadillo-type fold (1);	0.061387	0.64402	D	0.000004	T	0.28101	0.0693	M	0.62723	1.935	0.53005	D	0.999969	B	0.22746	0.074	B	0.21546	0.035	T	0.02519	-1.1147	10	0.36615	T	0.2	-19.5368	19.8579	0.96771	0.0:0.0:1.0:0.0	.	707	O75691	UTP20_HUMAN	I	707	ENSP00000261637:V707I	ENSP00000261637:V707I	V	+	1	0	UTP20	100226217	1.000000	0.71417	0.996000	0.52242	0.509000	0.34042	5.408000	0.66368	2.687000	0.91594	0.655000	0.94253	GTA		0.393	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		21	42	0	0	0	1	0	21	42				
ZNF16	7564	broad.mit.edu	37	8	146157095	146157095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:146157095G>A	ENST00000276816.4	-	4	1264	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.R360*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	360	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTTGAGCTTCGCCTGAAGGCC	0.522																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1078-1080)Cga>Tga		zinc finger protein 16							96.0	98.0	97.0					8																	146157095		2203	4300	6503	SO:0001587	stop_gained	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157095G>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1078C>T	8.37:g.146157095G>A	ENSP00000276816:p.Arg360*					ZNF16_ENST00000394909.2_Nonsense_Mutation_p.R360*	p.R360*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1264	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	360					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Nonsense_Mutation	SNP	ENST00000276816.4	37	c.1078C>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530439	0.96446	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	.	.	.	4.02	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	10.9808	0.47492	0.0978:0.0:0.9022:0.0	.	.	.	.	X	360	.	ENSP00000276816:R360X	R	-	1	2	ZNF16	146127899	0.000000	0.05858	1.000000	0.80357	0.910000	0.53928	-1.039000	0.03550	2.056000	0.61249	0.563000	0.77884	CGA		0.522	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		23	29	0	0	0	1	0	23	29				
GMFG	9535	broad.mit.edu	37	19	39823717	39823717	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39823717C>A	ENST00000597595.1	-	4	408	c.200G>T	c.(199-201)aGg>aTg	p.R67M	GMFG_ENST00000601387.1_Splice_Site_p.R26M|GMFG_ENST00000598034.1_Splice_Site_p.R67M|GMFG_ENST00000595636.1_Splice_Site_p.R67M|GMFG_ENST00000600322.1_Splice_Site_p.R34M|GMFG_ENST00000602185.1_Splice_Site_p.R18M|GMFG_ENST00000253054.8_Splice_Site_p.R34M|GMFG_ENST00000594700.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	67	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	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;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCAGGATACCTGGGCTGTCT	0.532																																						ENST00000598034.1																			0				breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10						c.e4+1		glia maturation factor, gamma							92.0	86.0	88.0					19																	39823717		2203	4300	6503	SO:0001630	splice_region_variant	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39823717C>A	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.200+1G>T	19.37:g.39823717C>A						GMFG_ENST00000594700.1_Intron|GMFG_ENST00000600322.1_Splice_Site_p.R34_splice|GMFG_ENST00000595636.1_Splice_Site_p.R67_splice|GMFG_ENST00000597595.1_Splice_Site_p.R67_splice|GMFG_ENST00000602185.1_Splice_Site_p.R18_splice|GMFG_ENST00000253054.8_Splice_Site_p.R34_splice|GMFG_ENST00000601387.1_Splice_Site_p.R26_splice	p.R67_splice			O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		4	229	-	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)		67			ADF-H.		Q6IB37	Splice_Site	SNP	ENST00000597595.1	37	c.200_splice	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202440	0.79127	.	.	ENSG00000130755	ENST00000253054	.	.	.	3.75	3.75	0.43078	Actin-binding, cofilin/tropomyosin type (3);	0.084158	0.42172	D	0.000743	D	0.84933	0.5582	H	0.94698	3.57	0.58432	D	0.999994	D;D	0.89917	0.996;1.0	D;D	0.97110	0.944;1.0	D	0.88153	0.2852	8	.	.	.	-11.9604	11.2937	0.49265	0.0:1.0:0.0:0.0	.	67;67	O60234;Q6IB37	GMFG_HUMAN;.	M	67	.	.	R	-	2	0	GMFG	44515557	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.219000	0.72231	2.096000	0.63516	0.632000	0.83419	AGG		0.532	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		Missense_Mutation	21	35	1	0	1.2644e-06	1	1.31806e-06	21	35				
PNPLA1	285848	broad.mit.edu	37	6	36275449	36275449	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36275449C>T	ENST00000394571.2	+	8	1555	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P433S|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P424S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	519					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAGGCTTCCCAAGACATTC	0.468																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1555-1557)Cca>Tca		patatin-like phospholipase domain containing 1							98.0	90.0	93.0					6																	36275449		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36275449C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1555C>T	6.37:g.36275449C>T	ENSP00000378072:p.Pro519Ser					PNPLA1_ENST00000388715.3_Missense_Mutation_p.P424S|PNPLA1_ENST00000312917.5_Missense_Mutation_p.P433S	p.P519S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			8	1555	+			519					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1555C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	4.248	0.044961	0.08196	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.26518	1.96;1.96;1.73;1.73	5.46	2.27	0.28462	.	0.844928	0.10146	N	0.710197	T	0.06005	0.0156	L	0.27053	0.805	0.09310	N	1	B;B	0.20671	0.028;0.047	B;B	0.17979	0.006;0.02	T	0.39961	-0.9588	10	0.27082	T	0.32	-0.4312	7.9257	0.29872	0.0:0.6979:0.0:0.3021	.	519;433	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	S	424;433;520;519	ENSP00000373367:P424S;ENSP00000321116:P433S;ENSP00000391868:P520S;ENSP00000378072:P519S	ENSP00000321116:P433S	P	+	1	0	PNPLA1	36383427	0.000000	0.05858	0.300000	0.25030	0.313000	0.28021	-0.229000	0.09098	0.679000	0.31345	0.655000	0.94253	CCA		0.468	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		7	17	0	0	0	1	0	7	17				
FAT4	79633	broad.mit.edu	37	4	126367515	126367515	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126367515G>A	ENST00000394329.3	+	8	7274	c.7261G>A	c.(7261-7263)Gca>Aca	p.A2421T	FAT4_ENST00000335110.5_Missense_Mutation_p.A719T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2421	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2421T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCACCAGCGCATTGTTAGA	0.443																																						ENST00000394329.3																			2	Substitution - Missense(2)	p.A2421T(2)	large_intestine(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7261-7263)Gca>Aca		FAT atypical cadherin 4							122.0	121.0	121.0					4																	126367515		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126367515G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7261G>A	4.37:g.126367515G>A	ENSP00000377862:p.Ala2421Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A719T	p.A2421T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			8	7274	+			2421			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7261G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135541	0.37728	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52526	0.66;0.66	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004257	T	0.46464	0.1394	L	0.48218	1.51	0.42535	D	0.993055	P;D	0.59357	0.827;0.985	B;P	0.48795	0.182;0.59	T	0.29212	-1.0019	10	0.10902	T	0.67	.	14.637	0.68696	0.0:0.0:0.8545:0.1455	.	719;2421	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2421;719	ENSP00000377862:A2421T;ENSP00000335169:A719T	ENSP00000335169:A719T	A	+	1	0	FAT4	126586965	1.000000	0.71417	0.845000	0.33349	0.191000	0.23601	4.077000	0.57598	2.677000	0.91161	0.655000	0.94253	GCA		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		34	47	0	0	0	1	0	34	47				
CRTAC1	55118	broad.mit.edu	37	10	99696033	99696033	+	Silent	SNP	G	G	A	rs571436527		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99696033G>A	ENST00000370597.3	-	3	670	c.315C>T	c.(313-315)taC>taT	p.Y105Y	CRTAC1_ENST00000370591.2_Silent_p.Y105Y|CRTAC1_ENST00000298819.4_Silent_p.Y105Y	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	105						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGCAGCGCGTAGTAGGGTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18623	0.0		0.001	False		,,,				2504	0.0					ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(313-315)taC>taT		cartilage acidic protein 1							66.0	54.0	58.0					10																	99696033		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696033G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.315C>T	10.37:g.99696033G>A						CRTAC1_ENST00000370591.2_Silent_p.Y105Y|CRTAC1_ENST00000298819.4_Silent_p.Y105Y	p.Y105Y	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	670	-		Colorectal(252;0.24)	105					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.315C>T	CCDS31266.1																																																																																				0.622	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		11	24	0	0	0	1	0	11	24				
HGF	3082	broad.mit.edu	37	7	81381467	81381467	+	Silent	SNP	G	G	A	rs143891160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:81381467G>A	ENST00000222390.5	-	5	820	c.594C>T	c.(592-594)taC>taT	p.Y198Y	HGF_ENST00000457544.2_Silent_p.Y193Y|HGF_ENST00000453411.1_Silent_p.Y193Y|HGF_ENST00000444829.2_Silent_p.Y198Y|HGF_ENST00000423064.2_Silent_p.Y198Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	198	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CACAGACTTCGTAGCGTACCT	0.468																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(592-594)taC>taT		hepatocyte growth factor (hepapoietin A; scatter factor)		G	,,,,	0,4406		0,0,2203	148.0	127.0	134.0		594,594,579,579,594	5.1	1.0	7	dbSNP_134	134	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HGF	NM_000601.4,NM_001010931.1,NM_001010932.1,NM_001010933.1,NM_001010934.1	,,,,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,,,,	198/729,198/291,193/724,193/286,198/211	81381467	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381467G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.594C>T	7.37:g.81381467G>A						HGF_ENST00000453411.1_Silent_p.Y193Y|HGF_ENST00000457544.2_Silent_p.Y193Y|HGF_ENST00000444829.2_Silent_p.Y198Y|HGF_ENST00000423064.2_Silent_p.Y198Y	p.Y198Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	820	-			198			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.594C>T	CCDS5597.1																																																																																				0.468	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		18	38	0	0	0	1	0	18	38				
GNLY	10578	broad.mit.edu	37	2	85922499	85922499	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85922499C>T	ENST00000263863.4	+	2	237	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.R64C|GNLY_ENST00000409696.3_Missense_Mutation_p.R22C	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	37					cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						AGCCCACCTGCGTGATGAGGA	0.622																																						ENST00000409696.3																			0				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(64-66)Cgt>Tgt		granulysin							84.0	69.0	74.0					2																	85922499		2203	4300	6503	SO:0001583	missense	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85922499C>T	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.109C>T	2.37:g.85922499C>T	ENSP00000263863:p.Arg37Cys					GNLY_ENST00000263863.4_Missense_Mutation_p.R37C|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.R64C	p.R22C	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN			3	346	+			37					P09325|Q6GU08	Missense_Mutation	SNP	ENST00000263863.4	37	c.64C>T	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	C	1.371	-0.585989	0.03827	.	.	ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696	T;T;T	0.47869	0.92;0.83;0.92	1.64	-3.28	0.05033	.	1.004380	0.08027	N	0.992858	T	0.17365	0.0417	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11227	-1.0596	10	0.33141	T	0.24	.	3.9791	0.09487	0.0:0.3054:0.4073:0.2873	.	64;37	B4E3H9;P22749	.;GNLY_HUMAN	C	37;64;22	ENSP00000263863:R37C;ENSP00000436423:R64C;ENSP00000387116:R22C	ENSP00000263863:R37C	R	+	1	0	GNLY	85776010	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.589000	0.02104	-1.499000	0.01821	-2.643000	0.00151	CGT		0.622	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		6	17	0	0	0	1	0	6	17				
EIF4B	1975	broad.mit.edu	37	12	53412636	53412636	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53412636A>G	ENST00000262056.9	+	3	532	c.206A>G	c.(205-207)gAc>gGc	p.D69G	EIF4B_ENST00000416762.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D69G	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTCCAATTGACCGTTCCATC	0.498																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(205-207)gAc>gGc		eukaryotic translation initiation factor 4B							103.0	96.0	98.0					12																	53412636		1914	4123	6037	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53412636A>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.206A>G	12.37:g.53412636A>G	ENSP00000262056:p.Asp69Gly					EIF4B_ENST00000420463.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.D69G|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR	p.D69G	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			3	532	+			69					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.206A>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857028	0.91433	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.96688	0.8919	M	0.79475	2.455	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.77557	0.99;0.977;0.977	D	0.96219	0.9159	10	0.40728	T	0.16	.	13.6334	0.62208	1.0:0.0:0.0:0.0	.	69;69;69	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	G	69;23;69;69;69;69;69	ENSP00000262056:D69G;ENSP00000447192:D23G;ENSP00000388806:D69G;ENSP00000412530:D69G;ENSP00000449746:D69G;ENSP00000450324:D69G	ENSP00000262056:D69G	D	+	2	0	EIF4B	51698903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.128000	0.94424	2.038000	0.60285	0.482000	0.46254	GAC		0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		5	87	0	0	0	1	0	5	87				
PYGO1	26108	broad.mit.edu	37	15	55838292	55838292	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55838292C>T	ENST00000302000.6	-	3	1283	c.1189G>A	c.(1189-1191)Gct>Act	p.A397T	PYGO1_ENST00000563719.1_Missense_Mutation_p.A397T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	397					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCTTTGTCAGCCATACAGGTA	0.428																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1189-1191)Gct>Act		pygopus family PHD finger 1							115.0	100.0	105.0					15																	55838292		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838292C>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1189G>A	15.37:g.55838292C>T	ENSP00000302327:p.Ala397Thr					PYGO1_ENST00000563719.1_Missense_Mutation_p.A397T	p.A397T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	1283	-			397					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.1189G>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571882	0.65765	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	D	0.84660	-1.88	5.39	5.39	0.77823	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.067509	0.64402	D	0.000014	D	0.88625	0.6487	L	0.38175	1.15	0.43924	D	0.996572	D;D	0.71674	0.998;0.995	D;D	0.69307	0.963;0.946	D	0.87914	0.2699	10	0.40728	T	0.16	-15.326	18.1679	0.89734	0.0:1.0:0.0:0.0	.	397;397	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	397	ENSP00000302327:A397T	ENSP00000302327:A397T	A	-	1	0	PYGO1	53625584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.392000	0.52537	2.524000	0.85096	0.591000	0.81541	GCT		0.428	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		10	39	0	0	0	1	0	10	39				
FEZF1	389549	broad.mit.edu	37	7	121943235	121943235	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121943235G>A	ENST00000442488.2	-	2	999	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FEZF1_ENST00000331178.4_Missense_Mutation_p.T307M|FEZF1_ENST00000427185.2_Missense_Mutation_p.T261M|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	311					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACACACCTGCGTGTGAATGAT	0.463																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(931-933)aCg>aTg		FEZ family zinc finger 1							143.0	136.0	138.0					7																	121943235		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943235G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.932C>T	7.37:g.121943235G>A	ENSP00000411145:p.Thr311Met					FEZF1_ENST00000427185.2_Missense_Mutation_p.T261M|FEZF1_ENST00000331178.4_Missense_Mutation_p.T307M	p.T311M	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			2	999	-			311					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.932C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965809	0.92855	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.26373	1.74;1.74;1.74	5.23	5.23	0.72850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57774	-0.7753	10	0.87932	D	0	-18.979	19.2154	0.93776	0.0:0.0:1.0:0.0	.	311;261	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	M	311;307;261	ENSP00000411145:T311M;ENSP00000332777:T307M;ENSP00000392727:T261M	ENSP00000332777:T307M	T	-	2	0	FEZF1	121730471	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.758000	0.98927	2.602000	0.87976	0.650000	0.86243	ACG		0.463	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		32	44	0	0	0	1	0	32	44				
DNAJC13	23317	broad.mit.edu	37	3	132184906	132184906	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132184906C>T	ENST00000260818.6	+	18	2208	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	654					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTGTTGAAACGCATTTTGGT	0.353																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1960-1962)Cgc>Tgc		DnaJ (Hsp40) homolog, subfamily C, member 13							74.0	71.0	72.0					3																	132184906		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132184906C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1960C>T	3.37:g.132184906C>T	ENSP00000260818:p.Arg654Cys					DNAJC13_ENST00000486798.1_3'UTR	p.R654C	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			18	2208	+			654					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1960C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414359	0.83449	.	.	ENSG00000138246	ENST00000260818	T	0.35973	1.28	5.53	5.53	0.82687	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.73708	0.465;0.981	T	0.65804	-0.6079	10	0.87932	D	0	.	19.4655	0.94935	0.0:1.0:0.0:0.0	.	654;654	A7E2Y5;O75165	.;DJC13_HUMAN	C	654	ENSP00000260818:R654C	ENSP00000260818:R654C	R	+	1	0	DNAJC13	133667596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.936000	0.70153	2.602000	0.87976	0.650000	0.86243	CGC		0.353	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		3	33	0	0	0	1	0	3	33				
BPTF	2186	broad.mit.edu	37	17	65942213	65942213	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65942213G>A	ENST00000321892.4	+	23	7828	c.7767G>A	c.(7765-7767)gtG>gtA	p.V2589V	BPTF_ENST00000306378.6_Silent_p.V2463V|BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2589					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGTGGTGTGCCCCAGCAAA	0.507																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7765-7767)gtG>gtA		bromodomain PHD finger transcription factor							111.0	97.0	102.0					17																	65942213		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65942213G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7767G>A	17.37:g.65942213G>A						BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Silent_p.V2463V	p.V2589V			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7828	+	all_cancers(12;6e-11)		2589					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.7767G>A																																																																																					0.507	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		14	16	0	0	0	1	0	14	16				
SLC13A3	64849	broad.mit.edu	37	20	45188748	45188748	+	Silent	SNP	G	G	A	rs574792227		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45188748G>A	ENST00000279027.4	-	13	1740	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	SLC13A3_ENST00000435032.1_Silent_p.G159G|SLC13A3_ENST00000396360.1_Silent_p.G492G|SLC13A3_ENST00000413164.2_Silent_p.G524G|SLC13A3_ENST00000472148.1_Silent_p.G492G|SLC13A3_ENST00000495082.1_Silent_p.G527G|SLC13A3_ENST00000290317.5_Silent_p.G527G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	574					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCGGGAAGGTGCCCAGCTGGA	0.562																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1720-1722)ggC>ggT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						176.0	148.0	157.0					20																	45188748		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188748G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1722C>T	20.37:g.45188748G>A						SLC13A3_ENST00000396360.1_Silent_p.G492G|SLC13A3_ENST00000472148.1_Silent_p.G492G|SLC13A3_ENST00000413164.2_Silent_p.G524G|SLC13A3_ENST00000290317.5_Silent_p.G527G|SLC13A3_ENST00000435032.1_Silent_p.G159G|SLC13A3_ENST00000495082.1_Silent_p.G527G	p.G574G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1740	-		Myeloproliferative disorder(115;0.0122)	574					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1722C>T	CCDS13400.1																																																																																				0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			27	37	0	0	0	1	0	27	37				
LETM1	3954	broad.mit.edu	37	4	1818468	1818468	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1818468G>A	ENST00000302787.2	-	12	2213	c.1917C>T	c.(1915-1917)aaC>aaT	p.N639N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	639					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGGCATGCCGTTGGCCGGGG	0.622																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1915-1917)aaC>aaT		leucine zipper-EF-hand containing transmembrane protein 1							82.0	70.0	74.0					4																	1818468		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1818468G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1917C>T	4.37:g.1818468G>A							p.N639N	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2213	-			639					B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.1917C>T	CCDS3355.1																																																																																				0.622	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	33	0	0	0	1	0	4	33				
KDF1	126695	broad.mit.edu	37	1	27276630	27276630	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27276630C>G	ENST00000320567.5	-	4	1215	c.1127G>C	c.(1126-1128)aGc>aCc	p.S376T		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		376					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGTCATGGCTTGCTGGGTA	0.607																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1126-1128)aGc>aCc		chromosome 1 open reading frame 172							88.0	72.0	77.0					1																	27276630		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27276630C>G																												ENST00000320567.5:c.1127G>C	1.37:g.27276630C>G	ENSP00000319179:p.Ser376Thr						p.S376T	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	4	1215	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	376					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.1127G>C	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433701	0.62955	.	.	ENSG00000175707	ENST00000320567	T	0.25414	1.8	4.29	4.29	0.51040	.	0.481200	0.22393	N	0.060645	T	0.20861	0.0502	N	0.24115	0.695	0.43787	D	0.996325	B	0.32245	0.361	B	0.35770	0.21	T	0.07443	-1.0772	10	0.37606	T	0.19	.	15.4525	0.75285	0.0:1.0:0.0:0.0	.	376	Q8NAX2	CA172_HUMAN	T	376	ENSP00000319179:S376T	ENSP00000319179:S376T	S	-	2	0	C1orf172	27149217	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.058000	0.64300	2.374000	0.81015	0.655000	0.94253	AGC		0.607	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			30	36	0	0	0	1	0	30	36				
APOL4	80832	broad.mit.edu	37	22	36587468	36587468	+	Silent	SNP	G	G	A	rs199867930	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36587468G>A	ENST00000352371.1	-	6	932	c.708C>T	c.(706-708)gaC>gaT	p.D236D	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000332987.1_Silent_p.D233D|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	237					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TTGTGGCTTCGTCAAAATCAA	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		24583	0.001		0.001	False		,,,				2504	0.0					ENST00000332987.1																			0				lung(1)	1						c.(697-699)gaC>gaT		apolipoprotein L, 4			,	4,4336		0,4,2166	97.0	91.0	93.0		700,709	-3.4	0.0	22		93	1,8577		0,1,4288	yes	coding-synonymous,coding-synonymous	APOL4	NM_030643.3,NM_145660.1	,	0,5,6454	AA,AG,GG		0.0117,0.0922,0.0387	,	234/349,237/352	36587468	5,12913	2170	4289	6459	SO:0001819	synonymous_variant	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587468G>A	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.708C>T	22.37:g.36587468G>A						APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.D236D|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR	p.D233D			Q9BPW4	APOL4_HUMAN			7	1121	-			237					Q9BQ37|Q9BXQ8	Silent	SNP	ENST00000352371.1	37	c.699C>T																																																																																					0.458	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		11	28	0	0	0	1	0	11	28				
NXPH2	11249	broad.mit.edu	37	2	139429115	139429115	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:139429115G>T	ENST00000272641.3	-	2	278	c.172C>A	c.(172-174)Ctg>Atg	p.L58M		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	58	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TTAACAAACAGGCGCAGGGGA	0.572																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(172-174)Ctg>Atg		neurexophilin 2							117.0	117.0	117.0					2																	139429115		1950	4147	6097	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429115G>T	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.172C>A	2.37:g.139429115G>T	ENSP00000272641:p.Leu58Met						p.L58M	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	278	-			58			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.172C>A	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969275	0.74246	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.78097	0.4230	L	0.57536	1.79	0.51482	D	0.999925	D	0.76494	0.999	D	0.87578	0.998	T	0.73487	-0.3967	8	.	.	.	-11.5246	20.8794	0.99867	0.0:0.0:1.0:0.0	.	58	O95156	NXPH2_HUMAN	M	58	.	.	L	-	1	2	NXPH2	139145585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.203000	0.65174	2.941000	0.99782	0.655000	0.94253	CTG		0.572	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			6	89	1	0	0.000157383	1	0.000161063	6	89				
UPF1	5976	broad.mit.edu	37	19	18971713	18971713	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18971713C>T	ENST00000599848.1	+	17	2621	c.2412C>T	c.(2410-2412)atC>atT	p.I804I	UPF1_ENST00000262803.5_Silent_p.I793I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	804					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTGGCATCATCACGCCCTACG	0.617																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2377-2379)atC>atT		UPF1 regulator of nonsense transcripts homolog (yeast)							68.0	45.0	53.0					19																	18971713		2195	4300	6495	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18971713C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2412C>T	19.37:g.18971713C>T						UPF1_ENST00000599848.1_Silent_p.I804I	p.I793I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			17	2651	+			804					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2379C>T																																																																																					0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	11	0	0	0	1	0	6	11				
OR13C5	138799	broad.mit.edu	37	9	107361258	107361258	+	Missense_Mutation	SNP	G	G	A	rs75243926		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:107361258G>A	ENST00000374779.2	-	1	530	c.437C>T	c.(436-438)gCt>gTt	p.A146V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCAGGACCCAGCTGCCATGGG	0.473																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(436-438)gCt>gTt		olfactory receptor, family 13, subfamily C, member 5							112.0	109.0	110.0					9																	107361258		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361258G>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.437C>T	9.37:g.107361258G>A	ENSP00000363911:p.Ala146Val						p.A146V	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	530	-			146					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.437C>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633399	0.29068	.	.	ENSG00000255800	ENST00000374779	T	0.38077	1.16	4.17	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.737424	0.10990	U	0.611740	T	0.30386	0.0763	L	0.48218	1.51	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.22312	-1.0220	10	0.35671	T	0.21	.	6.7442	0.23453	0.2166:0.0:0.7834:0.0	.	146	Q8NGS8	O13C5_HUMAN	V	146	ENSP00000363911:A146V	ENSP00000363911:A146V	A	-	2	0	OR13C5	106401079	0.000000	0.05858	0.630000	0.29268	0.330000	0.28571	-0.002000	0.12924	0.948000	0.37687	0.531000	0.56144	GCT		0.473	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		50	48	0	0	0	1	0	50	48				
CFAP97	57587	broad.mit.edu	37	4	186097206	186097206	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186097206C>T	ENST00000458385.2	-	3	1174		c.e3-1		KIAA1430_ENST00000296775.6_Splice_Site|KIAA1430_ENST00000514798.1_Splice_Site|KIAA1430_ENST00000502992.1_Splice_Site	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN												endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGCAGAAAAGCTACAGAAAAG	0.348																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.e3-1		KIAA1430							62.0	53.0	56.0					4																	186097206		1822	4061	5883	SO:0001630	splice_region_variant	57587							g.chr4:186097206C>T																												ENST00000458385.2:c.1055-1G>A	4.37:g.186097206C>T						KIAA1430_ENST00000296775.6_Splice_Site|KIAA1430_ENST00000514798.1_Splice_Site|KIAA1430_ENST00000502992.1_Splice_Site		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	3	1174	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)						B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Splice_Site	SNP	ENST00000458385.2	37		CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270348	0.80469	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8526	0.96746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1430	186334200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.273000	0.72581	2.788000	0.95919	0.650000	0.86243	.		0.348	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2		Intron	9	8	0	0	0	1	0	9	8				
TMEM147	10430	broad.mit.edu	37	19	36038288	36038288	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36038288C>T	ENST00000222284.5	+	7	759	c.614C>T	c.(613-615)aCg>aTg	p.T205M	AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.T156M|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_3'UTR|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	205				ALLARAVVT -> VLMAGVVVK (in Ref. 1; CAA77013). {ECO:0000305}.		endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGTGGTAACGGGGCTGCTG	0.557																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(466-468)aCg>aTg		transmembrane protein 147							70.0	52.0	58.0					19																	36038288		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038288C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.614C>T	19.37:g.36038288C>T	ENSP00000222284:p.Thr205Met					TMEM147_ENST00000392205.1_3'UTR|TMEM147_ENST00000222284.5_Missense_Mutation_p.T205M	p.T156M	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	795	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		205					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.467C>T	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669673	0.88348	.	.	ENSG00000105677	ENST00000392204;ENST00000222284	T;T	0.50548	0.74;0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.87578	0.998;0.818	T	0.67799	-0.5577	10	0.87932	D	0	.	17.4169	0.87503	0.0:1.0:0.0:0.0	.	156;205	A8MWW0;Q9BVK8	.;TM147_HUMAN	M	156;205	ENSP00000376040:T156M;ENSP00000222284:T205M	ENSP00000222284:T205M	T	+	2	0	TMEM147	40730128	1.000000	0.71417	0.989000	0.46669	0.909000	0.53808	5.851000	0.69481	2.717000	0.92951	0.655000	0.94253	ACG		0.557	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		13	16	0	0	0	1	0	13	16				
SIMC1	375484	broad.mit.edu	37	5	175716874	175716874	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175716874G>A	ENST00000443967.1	+	4	697	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.S116N			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	97							SUMO polymer binding (GO:0032184)										GTGGACAGAAGCTCTCAGCCT	0.517																																						ENST00000443967.1																			0											c.(289-291)aGc>aAc		SUMO-interacting motifs containing 1							93.0	86.0	88.0					5																	175716874		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175716874G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.290G>A	5.37:g.175716874G>A	ENSP00000406571:p.Ser97Asn					SIMC1_ENST00000429602.2_Missense_Mutation_p.S116N|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR	p.S97N							4	697	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.290G>A		.	.	.	.	.	.	.	.	.	.	G	11.76	1.736188	0.30774	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.34859	2.11;1.34	4.31	2.53	0.30540	.	0.398298	0.21871	N	0.067895	T	0.25827	0.0629	.	.	.	0.18873	N	0.999989	B;B	0.11235	0.002;0.004	B;B	0.11329	0.006;0.004	T	0.21177	-1.0253	9	0.62326	D	0.03	-5.9641	6.5006	0.22166	0.2213:0.0:0.7787:0.0	.	116;97	B4DRM7;Q8NDZ2	.;CE025_HUMAN	N	97;116;8	ENSP00000406571:S97N;ENSP00000410552:S116N	ENSP00000366489:S8N	S	+	2	0	C5orf25	175649480	0.532000	0.26346	0.927000	0.36925	0.037000	0.13140	0.622000	0.24433	0.460000	0.27045	-0.199000	0.12753	AGC		0.517	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		33	41	0	0	0	1	0	33	41				
NPC1L1	29881	broad.mit.edu	37	7	44575991	44575991	+	Missense_Mutation	SNP	G	G	A	rs199844547		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44575991G>A	ENST00000289547.4	-	4	1773	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.T573M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.T573M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.T573M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	573					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGGGAGAACGTCATGATCAG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1717-1719)aCg>aTg		NPC1-like 1	Ezetimibe(DB00973)						79.0	82.0	81.0					7																	44575991		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575991G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1718C>T	7.37:g.44575991G>A	ENSP00000289547:p.Thr573Met					NPC1L1_ENST00000381160.3_Missense_Mutation_p.T573M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.T573M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.T573M	p.T573M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1773	-			573					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1718C>T	CCDS5491.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.66	3.869795	0.72065	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.95690	-3.65;-3.64;-3.78;-2.03	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.93978	3.48	0.52501	D	0.999956	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.995;0.996;0.983	D	0.99174	1.0865	10	0.72032	D	0.01	-40.1979	14.1509	0.65384	0.0:0.0:1.0:0.0	.	573;573;573;573	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	M	573	ENSP00000289547:T573M;ENSP00000370552:T573M;ENSP00000438033:T573M;ENSP00000404670:T573M	ENSP00000289547:T573M	T	-	2	0	NPC1L1	44542516	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.398000	0.90195	1.899000	0.54978	0.298000	0.19748	ACG		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	28	0	0	0	1	0	16	28				
ALOX12B	242	broad.mit.edu	37	17	7984217	7984217	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7984217T>C	ENST00000319144.4	-	4	772	c.512A>G	c.(511-513)aAc>aGc	p.N171S	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	171	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCGGTTGGGGTTGCGATGCCT	0.652										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(511-513)aAc>aGc		arachidonate 12-lipoxygenase, 12R type							71.0	71.0	71.0					17																	7984217		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984217T>C	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.512A>G	17.37:g.7984217T>C	ENSP00000315167:p.Asn171Ser	Multiple Myeloma(8;0.094)				AC129492.6_ENST00000399413.3_3'UTR	p.N171S	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN			4	772	-			171			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.512A>G	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	T	8.052	0.766158	0.15983	.	.	ENSG00000179477	ENST00000319144	D	0.89810	-2.57	4.85	3.7	0.42460	Lipoxygenase, C-terminal (2);	0.198768	0.34603	N	0.003837	T	0.81795	0.4898	L	0.40543	1.245	0.23101	N	0.998296	B	0.20780	0.048	B	0.15052	0.012	T	0.68530	-0.5384	10	0.30854	T	0.27	-35.3195	8.9617	0.35851	0.0:0.0:0.1858:0.8142	.	171	O75342	LX12B_HUMAN	S	171	ENSP00000315167:N171S	ENSP00000315167:N171S	N	-	2	0	ALOX12B	7924942	1.000000	0.71417	0.989000	0.46669	0.073000	0.16967	2.309000	0.43699	1.956000	0.56807	0.454000	0.30748	AAC		0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			22	34	0	0	0	1	0	22	34				
G6PC3	92579	broad.mit.edu	37	17	42151578	42151578	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42151578A>G	ENST00000269097.4	+	2	500	c.269A>G	c.(268-270)tAc>tGc	p.Y90C		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	90					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTGGTTACTACAGCCAGGCT	0.522																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(268-270)tAc>tGc		glucose 6 phosphatase, catalytic, 3							231.0	221.0	224.0					17																	42151578		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42151578A>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.269A>G	17.37:g.42151578A>G	ENSP00000269097:p.Tyr90Cys						p.Y90C	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	500	+		Breast(137;0.00637)|Prostate(33;0.0313)	90					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.269A>G	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196372	0.58126	.	.	ENSG00000141349	ENST00000269097	T	0.75154	-0.91	5.1	4.0	0.46444	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.355288	0.29767	N	0.011259	T	0.79281	0.4419	M	0.72894	2.215	0.29483	N	0.856181	D	0.56968	0.978	P	0.54499	0.754	T	0.75682	-0.3233	10	0.62326	D	0.03	-47.5375	9.3751	0.38278	0.6328:0.3671:0.0:0.0	.	90	Q9BUM1	G6PC3_HUMAN	C	90	ENSP00000269097:Y90C	ENSP00000269097:Y90C	Y	+	2	0	G6PC3	39507104	0.997000	0.39634	0.998000	0.56505	0.992000	0.81027	2.223000	0.42936	0.765000	0.33221	0.459000	0.35465	TAC		0.522	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		4	175	0	0	0	1	0	4	175				
LRRC61	65999	broad.mit.edu	37	7	150034640	150034640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150034640C>A	ENST00000359623.4	+	3	1278	c.690C>A	c.(688-690)tgC>tgA	p.C230*	LRRC61_ENST00000323078.7_Nonsense_Mutation_p.C230*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.C230*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	230										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGCAGGAGTGCTGGGACCTGG	0.677																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(688-690)tgC>tgA		leucine rich repeat containing 61							14.0	16.0	15.0					7																	150034640		2194	4290	6484	SO:0001587	stop_gained	65999							g.chr7:150034640C>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.690C>A	7.37:g.150034640C>A	ENSP00000352642:p.Cys230*					LRRC61_ENST00000323078.7_Nonsense_Mutation_p.C230*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.C230*	p.C230*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1278	+			230					B3KUW0|D3DWY8	Nonsense_Mutation	SNP	ENST00000359623.4	37	c.690C>A	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816315	0.97861	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	.	.	.	3.97	2.1	0.27182	.	0.069211	0.64402	U	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2326	8.251	0.31717	0.0:0.7925:0.0:0.2075	.	.	.	.	X	230	.	ENSP00000339047:C230X	C	+	3	2	LRRC61	149665573	0.118000	0.22208	0.537000	0.28052	0.693000	0.40251	0.249000	0.18216	0.904000	0.36572	0.306000	0.20318	TGC		0.677	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		10	13	1	0	0.00621372	1	0.00628055	10	13				
MIB2	142678	broad.mit.edu	37	1	1563681	1563681	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1563681C>T	ENST00000357210.4	+	15	2260	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MIB2_ENST00000360522.4_Missense_Mutation_p.R647W|MIB2_ENST00000378708.1_Missense_Mutation_p.R588W|MIB2_ENST00000520777.1_Missense_Mutation_p.R735W|MIB2_ENST00000505820.2_Missense_Mutation_p.R739W|MIB2_ENST00000378710.3_Missense_Mutation_p.R646W|MIB2_ENST00000355826.5_Missense_Mutation_p.R725W|MIB2_ENST00000518681.1_Missense_Mutation_p.R674W|MIB2_ENST00000504599.1_Missense_Mutation_p.R638W|MIB2_ENST00000378712.1_Missense_Mutation_p.R559W	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	682					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCTCGGGCGCGGCAGCTGGT	0.657																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2044-2046)Cgg>Tgg		mindbomb E3 ubiquitin protein ligase 2							22.0	28.0	26.0					1																	1563681		2016	4186	6202	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563681C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2044C>T	1.37:g.1563681C>T	ENSP00000349741:p.Arg682Trp					MIB2_ENST00000504599.1_Missense_Mutation_p.R638W|MIB2_ENST00000378712.1_Missense_Mutation_p.R559W|MIB2_ENST00000520777.1_Missense_Mutation_p.R735W|MIB2_ENST00000360522.4_Missense_Mutation_p.R647W|MIB2_ENST00000378708.1_Missense_Mutation_p.R588W|MIB2_ENST00000505820.2_Missense_Mutation_p.R739W|MIB2_ENST00000378710.3_Missense_Mutation_p.R646W|MIB2_ENST00000518681.1_Missense_Mutation_p.R674W|MIB2_ENST00000355826.5_Missense_Mutation_p.R725W	p.R682W	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	15	2260	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	682					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.2044C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.980867|3.980867	0.74474|0.74474	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000514234|ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	T|T;T;T;T;T;T;T;T;T;T	0.53857|0.65916	0.6|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.15|4.15	4.15|4.15	0.48705|0.48705	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71854|0.71854	0.3389|0.3389	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.996;1.0;1.0;1.0;1.0	T|T	0.74284|0.74284	-0.3715|-0.3715	7|10	0.38643|0.87932	T|D	0.18|0	-21.0205|-21.0205	10.9205|10.9205	0.47161|0.47161	0.1877:0.8123:0.0:0.0|0.1877:0.8123:0.0:0.0	.|.	.|647;588;559;674;735;668;682	.|Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.|.;.;.;.;.;.;MIB2_HUMAN	V|W	497|735;682;647;646;725;674;739;559;638;588	ENSP00000427680:A497V|ENSP00000428660:R735W;ENSP00000349741:R682W;ENSP00000353713:R647W;ENSP00000367982:R646W;ENSP00000348081:R725W;ENSP00000428264:R674W;ENSP00000426103:R739W;ENSP00000367984:R559W;ENSP00000426128:R638W;ENSP00000367980:R588W	ENSP00000427680:A497V|ENSP00000348081:R725W	A|R	+|+	2|1	0|2	MIB2|MIB2	1553544|1553544	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.699000|0.699000	0.40488|0.40488	4.529000|4.529000	0.60588|0.60588	2.130000|2.130000	0.65690|0.65690	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.657	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		6	21	0	0	0	1	0	6	21				
RPL36AL	6166	broad.mit.edu	37	14	50085776	50085776	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50085776C>T	ENST00000298289.6	-	2	206	c.47G>A	c.(46-48)gGc>gAc	p.G16D	RP11-649E7.5_ENST00000555043.1_RNA|MGAT2_ENST00000305386.2_5'Flank	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	16					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGATGCTTGCCACACTTCTT	0.438																																						ENST00000298289.6																			0											c.(46-48)gGc>gAc		ribosomal protein L36a-like							95.0	93.0	94.0					14																	50085776		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085776C>T	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.47G>A	14.37:g.50085776C>T	ENSP00000346012:p.Gly16Asp						p.G16D	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	206	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		16					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.47G>A	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516264	0.44763	.	.	ENSG00000165502	ENST00000298289	T	0.47177	0.85	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.167201	0.41712	U	0.000824	T	0.35393	0.0930	.	.	.	0.29253	N	0.87184	B	0.06786	0.001	B	0.17433	0.018	T	0.15723	-1.0427	9	0.28530	T	0.3	-21.5435	14.925	0.70871	0.0:1.0:0.0:0.0	.	16	Q969Q0	RL36L_HUMAN	D	16	ENSP00000346012:G16D	ENSP00000346012:G16D	G	-	2	0	RPL36AL	49155526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.151000	0.64875	2.652000	0.90054	0.579000	0.79373	GGC		0.438	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			27	49	0	0	0	1	0	27	49				
RIC1	57589	broad.mit.edu	37	9	5769250	5769250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5769250C>T	ENST00000414202.2	+	22	3609	c.3418C>T	c.(3418-3420)Cga>Tga	p.R1140*	KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R1024*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1140*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R1061*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAAAATACCGAACTGGTAA	0.368																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3418-3420)Cga>Tga		KIAA1432							116.0	128.0	124.0					9																	5769250		2203	4300	6503	SO:0001587	stop_gained	57589					integral to membrane		g.chr9:5769250C>T																												ENST00000414202.2:c.3418C>T	9.37:g.5769250C>T	ENSP00000416696:p.Arg1140*					KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1140*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R1061*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R1024*	p.R1140*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	22	3609	+		Acute lymphoblastic leukemia(23;0.154)	1140						Nonsense_Mutation	SNP	ENST00000414202.2	37	c.3418C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.772463|7.772463	0.98480|0.98480	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.82|5.82	4.9|4.9	0.64082|0.64082	.|.	.|0.059965	.|0.64402	.|D	.|0.000005	T|.	0.35595|.	0.0937|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17776|.	-1.0358|.	4|.	.|0.02654	.|T	.|1	-8.1696|-8.1696	13.065|13.065	0.59028|0.59028	0.4404:0.5596:0.0:0.0|0.4404:0.5596:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1031|1140;1140;1061;1061;1024	.|.	.|ENSP00000251879:R1140X	P|R	+|+	2|1	0|2	KIAA1432|KIAA1432	5759250|5759250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.787000|0.787000	0.44495|0.44495	3.021000|3.021000	0.49651|0.49651	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.368	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			59	82	0	0	0	1	0	59	82				
ALDOC	230	broad.mit.edu	37	17	26901208	26901208	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26901208C>T	ENST00000226253.4	-	7	1151	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	ALDOC_ENST00000395319.3_Missense_Mutation_p.G198R|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.G226R|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000543734.1_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	226					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGCAGGGTCCCCTCCAGGTAT	0.587																																						ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(676-678)Ggg>Agg		aldolase C, fructose-bisphosphate							150.0	158.0	156.0					17																	26901208		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26901208C>T	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.676G>A	17.37:g.26901208C>T	ENSP00000226253:p.Gly226Arg					ALDOC_ENST00000395321.2_Missense_Mutation_p.G226R|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.G198R	p.G226R	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			7	1151	-	Lung NSC(42;0.00431)		226					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.676G>A	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541918	0.85917	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.88431	-2.38;-2.38;-2.38	5.58	5.58	0.84498	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96420	0.9311	10	0.87932	D	0	-0.0879	19.17	0.93574	0.0:1.0:0.0:0.0	.	198;226	A8MVZ9;P09972	.;ALDOC_HUMAN	R	198;226;226	ENSP00000378729:G198R;ENSP00000226253:G226R;ENSP00000378731:G226R	ENSP00000226253:G226R	G	-	1	0	ALDOC	23925335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.810000	0.86072	2.637000	0.89404	0.555000	0.69702	GGG		0.587	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			36	64	0	0	0	1	0	36	64				
NISCH	11188	broad.mit.edu	37	3	52522464	52522464	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52522464G>A	ENST00000479054.1	+	17	3028	c.2956G>A	c.(2956-2958)Gtg>Atg	p.V986M	NISCH_ENST00000345716.4_Missense_Mutation_p.V986M			Q9Y2I1	NISCH_HUMAN	nischarin	986					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGCCATCTTCGTGCTGCCCCA	0.642																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2956-2958)Gtg>Atg		nischarin							69.0	69.0	69.0					3																	52522464		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522464G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2956G>A	3.37:g.52522464G>A	ENSP00000418232:p.Val986Met					NISCH_ENST00000479054.1_Missense_Mutation_p.V986M	p.V986M	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	3090	+			986					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2956G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631551	0.67015	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.63580	-0.05;-0.05	5.21	5.21	0.72293	.	0.134405	0.51477	D	0.000095	T	0.71350	0.3329	L	0.32530	0.975	0.40144	D	0.976866	D	0.89917	1.0	D	0.69142	0.962	T	0.75622	-0.3254	10	0.87932	D	0	-25.5171	18.7518	0.91819	0.0:0.0:1.0:0.0	.	986	Q9Y2I1	NISCH_HUMAN	M	986;986;330	ENSP00000418232:V986M;ENSP00000339958:V986M	ENSP00000339958:V986M	V	+	1	0	NISCH	52497504	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	4.219000	0.58561	2.434000	0.82447	0.462000	0.41574	GTG		0.642	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		13	51	0	0	0	1	0	13	51				
RAP1B	5908	broad.mit.edu	37	12	69044218	69044218	+	Silent	SNP	C	C	T	rs144054951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69044218C>T	ENST00000250559.9	+	3	327	c.96C>T	c.(94-96)taC>taT	p.Y32Y	RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000540209.1_Silent_p.Y32Y|RAP1B_ENST00000393436.5_Silent_p.Y32Y|RAP1B_ENST00000537460.1_Silent_p.Y32Y|RAP1B_ENST00000543697.1_Silent_p.Y32Y|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Silent_p.Y32Y|RAP1B_ENST00000341355.5_Silent_p.Y32Y|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000541216.1_Silent_p.Y32Y	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	32	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TAGAAAAATACGATCCTACGA	0.239																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(94-96)taC>taT		RAP1B, member of RAS oncogene family		T	,	1,4347		0,1,2173	23.0	27.0	26.0		96,96	1.7	1.0	12	dbSNP_134	26	0,8532		0,0,4266	no	coding-synonymous,coding-synonymous	RAP1B	NM_001010942.1,NM_015646.4	,	0,1,6439	TT,TC,CC		0.0,0.023,0.0078	,	32/185,32/185	69044218	1,12879	2174	4266	6440	SO:0001819	synonymous_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69044218C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.96C>T	12.37:g.69044218C>T						RAP1B_ENST00000543697.1_Silent_p.Y32Y|RAP1B_ENST00000541216.1_Silent_p.Y32Y|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000393436.5_Silent_p.Y32Y|RAP1B_ENST00000537460.1_Silent_p.Y32Y|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Silent_p.Y32Y|RAP1B_ENST00000540209.1_Silent_p.Y32Y|RAP1B_ENST00000341355.5_Silent_p.Y32Y	p.Y32Y	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	3	327	+	Breast(13;1.24e-05)		32					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Silent	SNP	ENST00000250559.9	37	c.96C>T	CCDS8984.1																																																																																				0.239	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		18	31	0	0	0	1	0	18	31				
PTPRF	5792	broad.mit.edu	37	1	44019259	44019259	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44019259G>A	ENST00000359947.4	+	4	528	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R63H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R63H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R63H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	63	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R53H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCAAGCCGCGCATCACATGG	0.597																																						ENST00000359947.4																			1	Substitution - Missense(1)	p.R53H(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(187-189)cGc>cAc		protein tyrosine phosphatase, receptor type, F							185.0	177.0	180.0					1																	44019259		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019259G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.188G>A	1.37:g.44019259G>A	ENSP00000353030:p.Arg63His					PTPRF_ENST00000372414.3_Missense_Mutation_p.R63H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R63H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R63H	p.R63H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			4	528	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	63			Ig-like C2-type 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.188G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820429	0.71028	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33161	N	0.005202	T	0.66127	0.2758	N	0.16708	0.43	0.80722	D	1	D;P;D;D	0.67145	0.995;0.914;0.963;0.996	P;B;P;P	0.58331	0.823;0.353;0.485;0.837	T	0.65487	-0.6156	9	.	.	.	.	18.4352	0.90643	0.0:0.0:1.0:0.0	.	63;63;63;63	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	63	ENSP00000353030:R63H;ENSP00000398822:R63H;ENSP00000361491:R63H;ENSP00000361490:R63H;ENSP00000413306:R63H	.	R	+	2	0	PTPRF	43791846	0.999000	0.42202	0.926000	0.36857	0.849000	0.48306	5.805000	0.69143	2.405000	0.81733	0.655000	0.94253	CGC		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			43	85	0	0	0	1	0	43	85				
SPIN1	10927	broad.mit.edu	37	9	91063856	91063856	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91063856G>A	ENST00000375859.3	+	3	331	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Splice_Site_p.G18D	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	18					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCTCTTACAGGCCATGCTGGA	0.378																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.e3-1		spindlin 1							149.0	143.0	145.0					9																	91063856		1907	4125	6032	SO:0001630	splice_region_variant	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91063856G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.53-1G>A	9.37:g.91063856G>A						SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Splice_Site_p.G18_splice	p.G18_splice	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			3	331	+			18					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Splice_Site	SNP	ENST00000375859.3	37	c.52_splice	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779250	0.16120	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.44083	0.93;0.93	4.58	3.68	0.42216	.	0.437321	0.18478	N	0.140018	T	0.38374	0.1038	L	0.58101	1.795	0.80722	D	1	P	0.39060	0.657	B	0.37650	0.255	T	0.22103	-1.0226	9	.	.	.	.	10.9451	0.47296	0.0:0.1884:0.8116:0.0	.	18	Q9Y657	SPIN1_HUMAN	D	18	ENSP00000365019:G18D;ENSP00000441864:G18D	.	G	+	2	0	SPIN1	90253676	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	5.172000	0.65003	1.523000	0.49018	-0.165000	0.13383	GGC		0.378	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717	Missense_Mutation	24	32	0	0	0	1	0	24	32				
MCM8	84515	broad.mit.edu	37	20	5967973	5967973	+	Missense_Mutation	SNP	G	G	A	rs146056799	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5967973G>A	ENST00000378896.3	+	17	2586	c.2209G>A	c.(2209-2211)Gct>Act	p.A737T	MCM8_ENST00000378886.2_Missense_Mutation_p.A777T|MCM8_ENST00000265187.4_Missense_Mutation_p.A721T|MCM8_ENST00000378883.1_Missense_Mutation_p.A690T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	737					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAAAGAAGACGCTGAGGATAT	0.318													G|||	4	0.000798722	0.0015	0.0	5008	,	,		17997	0.0		0.002	False		,,,				2504	0.0					ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2209-2211)Gct>Act		minichromosome maintenance complex component 8		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	106.0	111.0	109.0		2209,2161	5.9	1.0	20	dbSNP_134	109	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	58,58	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging,probably-damaging	737/841,721/825	5967973	16,12990	2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5967973G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2209G>A	20.37:g.5967973G>A	ENSP00000368174:p.Ala737Thr					MCM8_ENST00000378886.2_Missense_Mutation_p.A777T|MCM8_ENST00000378883.1_Missense_Mutation_p.A690T|MCM8_ENST00000265187.4_Missense_Mutation_p.A721T	p.A737T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			17	2586	+			737					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2209G>A	CCDS13094.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.293312	0.95546	4.54E-4	0.001628	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.998	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.9751	18.4246	0.90605	0.0:0.0:1.0:0.0	.	690;777;721;737	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	T	737;690;777;721	ENSP00000368174:A737T;ENSP00000368161:A690T;ENSP00000368164:A777T;ENSP00000265187:A721T	ENSP00000265187:A721T	A	+	1	0	MCM8	5915973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.685000	0.91246	2.774000	0.95407	0.655000	0.94253	GCT		0.318	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		22	23	0	0	0	1	0	22	23				
AURKC	6795	broad.mit.edu	37	19	57746297	57746297	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57746297G>A	ENST00000302804.7	+	6	816	c.630G>A	c.(628-630)atG>atA	p.M210I	AURKC_ENST00000598785.1_Missense_Mutation_p.M176I|AURKC_ENST00000415300.2_Missense_Mutation_p.M191I|AURKC_ENST00000448930.1_Missense_Mutation_p.M176I|AURKC_ENST00000599062.1_Missense_Mutation_p.M207I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.M176I(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGCCAGAAATGATTGAGGGGA	0.507																																						ENST00000302804.7																			1	Substitution - Missense(1)	p.M176I(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(628-630)atG>atA		aurora kinase C							143.0	117.0	126.0					19																	57746297		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746297G>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.630G>A	19.37:g.57746297G>A	ENSP00000302898:p.Met210Ile					AURKC_ENST00000599062.1_Missense_Mutation_p.M207I|AURKC_ENST00000415300.2_Missense_Mutation_p.M191I|AURKC_ENST00000448930.1_Missense_Mutation_p.M176I|AURKC_ENST00000598785.1_Missense_Mutation_p.M176I	p.M210I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	816	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	210			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.630G>A	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956976	0.34565	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.62364	0.03;0.03;0.03	4.09	1.92	0.25849	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076845	0.85682	N	0.000000	T	0.35189	0.0923	N	0.01631	-0.79	0.51012	D	0.999902	B;B;B	0.28378	0.072;0.157;0.209	B;B;B	0.37267	0.245;0.115;0.16	T	0.26916	-1.0089	10	0.66056	D	0.02	-33.7327	7.4897	0.27454	0.0959:0.1695:0.7346:0.0	.	207;210;191	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	I	191;176;210	ENSP00000407162:M191I;ENSP00000406798:M176I;ENSP00000302898:M210I	ENSP00000302898:M210I	M	+	3	0	AURKC	62438109	1.000000	0.71417	0.660000	0.29694	0.522000	0.34438	5.197000	0.65141	0.663000	0.31027	0.655000	0.94253	ATG		0.507	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		6	19	0	0	0	1	0	6	19				
TRPM7	54822	broad.mit.edu	37	15	50902042	50902042	+	Silent	SNP	G	G	A	rs373177540		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:50902042G>A	ENST00000313478.7	-	18	2678	c.2397C>T	c.(2395-2397)agC>agT	p.S799S	TRPM7_ENST00000560955.1_Silent_p.S799S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	799					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTTGTTTTCGCTGTCATCCA	0.353																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(2395-2397)agC>agT		transient receptor potential cation channel, subfamily M, member 7							173.0	151.0	158.0					15																	50902042		1853	4097	5950	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50902042G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2397C>T	15.37:g.50902042G>A						TRPM7_ENST00000560955.1_Silent_p.S799S	p.S799S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	18	2678	-			799					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.2397C>T	CCDS42035.1																																																																																				0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		23	47	0	0	0	1	0	23	47				
ANK2	287	broad.mit.edu	37	4	114177072	114177072	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114177072C>T	ENST00000357077.4	+	11	1225	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	ANK2_ENST00000264366.6_Missense_Mutation_p.P391L|ANK2_ENST00000506722.1_Missense_Mutation_p.P370L|ANK2_ENST00000394537.3_Missense_Mutation_p.P391L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	391					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGCCAATCCGAACGCCAGA	0.493																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1171-1173)cCg>cTg		ankyrin 2, neuronal							104.0	96.0	99.0					4																	114177072		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114177072C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1172C>T	4.37:g.114177072C>T	ENSP00000349588:p.Pro391Leu					ANK2_ENST00000264366.6_Missense_Mutation_p.P391L|ANK2_ENST00000394537.3_Missense_Mutation_p.P391L|ANK2_ENST00000506722.1_Missense_Mutation_p.P370L	p.P391L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1225	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	391					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1172C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280366	0.80692	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.69926	-0.44;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.112103	0.40064	N	0.001191	T	0.65004	0.2650	N	0.16016	0.355	0.80722	D	1	P;D;B;P;D	0.55385	0.5;0.964;0.006;0.531;0.971	B;P;B;B;P	0.53006	0.127;0.49;0.016;0.056;0.715	T	0.68777	-0.5319	10	0.56958	D	0.05	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	391;391;391;370;370	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	L	370;370;370;406;391;391;391;370	ENSP00000423799:P370L;ENSP00000421011:P370L;ENSP00000421067:P370L;ENSP00000424722:P406L;ENSP00000378044:P391L;ENSP00000349588:P391L;ENSP00000264366:P391L	ENSP00000264366:P391L	P	+	2	0	ANK2	114396521	1.000000	0.71417	0.431000	0.26735	0.601000	0.36947	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CCG		0.493	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	45	0	0	0	1	0	19	45				
ORM2	5005	broad.mit.edu	37	9	117092738	117092738	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:117092738G>A	ENST00000431067.2	+	2	175	c.139G>A	c.(139-141)Gca>Aca	p.A47T	ORM2_ENST00000412657.1_Missense_Mutation_p.R185H	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	47					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	GTTTTATATCGCATCGGCCTT	0.502																																					NSCLC(65;867 1308 1814 2391 12508)	ENST00000412657.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(553-555)cGc>cAc		orosomucoid 2							34.0	55.0	48.0					9																	117092738		2191	4298	6489	SO:0001583	missense	5005							g.chr9:117092738G>A		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.139G>A	9.37:g.117092738G>A	ENSP00000394936:p.Ala47Thr					ORM2_ENST00000431067.2_Missense_Mutation_p.A47T	p.R185H							1	587	+		Myeloproliferative disorder(63;0.163)						B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.554G>A	CCDS6804.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	6.998|6.998	0.554307|0.554307	0.13374|0.13374	.|.	.|.	ENSG00000228278|ENSG00000228278	ENST00000431067|ENST00000412657	T|T	0.12361|0.39229	2.69|1.09	3.11|3.11	2.19|2.19	0.27852|0.27852	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.496470|.	0.22322|.	N|.	0.061583|.	T|T	0.46132|0.46132	0.1377|0.1377	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	P|.	0.48350|.	0.909|.	B|.	0.31442|.	0.13|.	T|T	0.40496|0.40496	-0.9560|-0.9560	10|7	0.72032|0.87932	D|D	0.01|0	-20.2972|-20.2972	6.629|6.629	0.22847|0.22847	0.134:0.0:0.866:0.0|0.134:0.0:0.866:0.0	.|.	47|.	P19652|.	A1AG2_HUMAN|.	T|H	47|185	ENSP00000394936:A47T|ENSP00000407099:R185H	ENSP00000394936:A47T|ENSP00000407099:R185H	A|R	+|+	1|2	0|0	ORM2|ORM2	116132559|116132559	0.047000|0.047000	0.20315|0.20315	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	2.466000|2.466000	0.45084|0.45084	0.883000|0.883000	0.36040|0.36040	0.494000|0.494000	0.49563|0.49563	GCA|CGC		0.502	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		11	46	0	0	0	1	0	11	46				
PAK7	57144	broad.mit.edu	37	20	9543668	9543668	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:9543668C>T	ENST00000378429.3	-	7	2032	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	PAK7_ENST00000378423.1_Missense_Mutation_p.V496M|PAK7_ENST00000353224.5_Missense_Mutation_p.V496M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CGCATGATCACGACCTGGGGA	0.453																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1486-1488)Gtg>Atg		p21 protein (Cdc42/Rac)-activated kinase 7							167.0	154.0	158.0					20																	9543668		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9543668C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1486G>A	20.37:g.9543668C>T	ENSP00000367686:p.Val496Met					PAK7_ENST00000353224.5_Missense_Mutation_p.V496M|PAK7_ENST00000378423.1_Missense_Mutation_p.V496M	p.V496M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		7	2032	-			496			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1486G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253965	0.80135	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65364	-0.15;-0.15;-0.15	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	N	0.16790	0.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.64807	-0.6320	9	.	.	.	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	496;496	B0AZM9;Q9P286	.;PAK7_HUMAN	M	496;496;496;444	ENSP00000367686:V496M;ENSP00000322957:V496M;ENSP00000367679:V496M	.	V	-	1	0	PAK7	9491668	1.000000	0.71417	0.999000	0.59377	0.403000	0.30841	7.747000	0.85070	2.894000	0.99253	0.591000	0.81541	GTG		0.453	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			33	102	0	0	0	1	0	33	102				
MROH7	374977	broad.mit.edu	37	1	55168415	55168415	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55168415C>T	ENST00000421030.2	+	21	3846	c.3561C>T	c.(3559-3561)tgC>tgT	p.C1187C	MROH7-TTC4_ENST00000414150.2_Silent_p.C1187C|MROH7_ENST00000409996.1_Silent_p.C755C|MROH7_ENST00000454855.2_Silent_p.C705C	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1187						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTTGCAAGTGCCTTGTGAGTG	0.493																																						ENST00000414150.2																			0											c.(3559-3561)tgC>tgT		maestro heat-like repeat family member 7							78.0	83.0	81.0					1																	55168415		2108	4239	6347	SO:0001819	synonymous_variant	374977							g.chr1:55168415C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3561C>T	1.37:g.55168415C>T						MROH7_ENST00000454855.2_Silent_p.C705C|MROH7_ENST00000409996.1_Silent_p.C755C|MROH7_ENST00000421030.2_Silent_p.C1187C	p.C1187C							21	3839	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.3561C>T	CCDS41342.2																																																																																				0.493	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		21	31	0	0	0	1	0	21	31				
MAB21L1	4081	broad.mit.edu	37	13	36049744	36049744	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36049744C>T	ENST00000379919.4	-	1	1088	c.532G>A	c.(532-534)Ggg>Agg	p.G178R	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	178					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGCCAGATCCCGGTGCATTTA	0.592																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(532-534)Ggg>Agg		mab-21-like 1 (C. elegans)							56.0	62.0	60.0					13																	36049744		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049744C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.532G>A	13.37:g.36049744C>T	ENSP00000369251:p.Gly178Arg					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	p.G178R	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1088	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	178					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.532G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266331	0.80358	.	.	ENSG00000180660	ENST00000379919	T	0.07216	3.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.03483	-1.1032	10	0.54805	T	0.06	-45.6221	19.7375	0.96212	0.0:1.0:0.0:0.0	.	178	Q13394	MB211_HUMAN	R	178	ENSP00000369251:G178R	ENSP00000369251:G178R	G	-	1	0	MAB21L1	34947744	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.786000	0.85741	2.680000	0.91292	0.655000	0.94253	GGG		0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		11	48	0	0	0	1	0	11	48				
ADD2	119	broad.mit.edu	37	2	70903983	70903983	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70903983G>A	ENST00000264436.4	-	13	1982	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	513					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGCCCCGCTGACTTCAC	0.602																																						ENST00000264436.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1537-1539)gCg>gTg		adducin 2 (beta)							70.0	71.0	71.0					2																	70903983		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70903983G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1538C>T	2.37:g.70903983G>A	ENSP00000264436:p.Ala513Val					ADD2_ENST00000407644.2_Missense_Mutation_p.A513V|ADD2_ENST00000430656.1_Missense_Mutation_p.A529V|ADD2_ENST00000413157.2_Missense_Mutation_p.A513V|ADD2_ENST00000355733.3_Missense_Mutation_p.A513V	p.A513V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			13	1982	-			513					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1538C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220356	0.95139	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.82056	2.57	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.973;0.994;0.953;0.973;0.987;0.996	T	0.53620	-0.8413	10	0.87932	D	0	-23.7626	16.036	0.80628	0.0:0.0:1.0:0.0	.	529;513;207;513;513;513	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	V	513;513;513;207;513;207;513;529	ENSP00000264436:A513V;ENSP00000384677:A513V;ENSP00000347972:A513V;ENSP00000430243:A207V;ENSP00000388072:A513V;ENSP00000398112:A529V	ENSP00000264436:A513V	A	-	2	0	ADD2	70757491	1.000000	0.71417	0.573000	0.28510	0.967000	0.64934	8.946000	0.92992	2.646000	0.89796	0.655000	0.94253	GCG		0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		20	35	0	0	0	1	0	20	35				
RPL28	6158	broad.mit.edu	37	19	55899546	55899546	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55899546C>T	ENST00000344063.2	+	5	953				RPL28_ENST00000558815.1_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.H152Y|RPL28_ENST00000560055.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCACACCCAGCATTGGCCTAG	0.647																																						ENST00000560583.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(454-456)Cat>Tat		ribosomal protein L28							45.0	48.0	47.0					19																	55899546		692	1591	2283	SO:0001627	intron_variant	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899546C>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.325-65C>T	19.37:g.55899546C>T						RPL28_ENST00000560055.1_Intron|RPL28_ENST00000344063.2_Intron|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558131.1_Intron	p.H152Y	NM_001136134.1	NP_001129606.1	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	494	+	Breast(117;0.191)	Renal(1328;0.245)	0					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.454C>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760480	0.15914	.	.	ENSG00000108107	ENST00000426763	.	.	.	2.17	-3.96	0.04106	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	6	.	.	.	.	4.8741	0.13648	0.0:0.2615:0.1982:0.5404	.	152	B4DEP9	.	Y	152	.	.	H	+	1	0	RPL28	60591358	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.159000	0.10056	-0.728000	0.04882	-0.379000	0.06801	CAT		0.647	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		5	3	0	0	0	1	0	5	3				
TRIM67	440730	broad.mit.edu	37	1	231339665	231339665	+	Silent	SNP	C	C	T	rs376273835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231339665C>T	ENST00000366653.5	+	6	1587	c.1587C>T	c.(1585-1587)agC>agT	p.S529S	TRIM67_ENST00000449018.3_Silent_p.S467S|TRIM67_ENST00000444294.3_Silent_p.S527S|TRIM67_ENST00000366652.2_Silent_p.S529S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	529	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GTAACAACAGCGTCACGCTGG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17998	0.0		0.0	False		,,,				2504	0.0					ENST00000444294.3																			0				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						c.(1579-1581)agC>agT		tripartite motif containing 67		C		5,4221		0,5,2108	48.0	57.0	54.0		1587	-6.9	0.9	1		54	0,8434		0,0,4217	no	coding-synonymous	TRIM67	NM_001004342.3		0,5,6325	TT,TC,CC		0.0,0.1183,0.0395		529/784	231339665	5,12655	2113	4217	6330	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339665C>T	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	ENST00000366653.5:c.1587C>T	1.37:g.231339665C>T						TRIM67_ENST00000449018.3_Silent_p.S467S|TRIM67_ENST00000366653.5_Silent_p.S529S|TRIM67_ENST00000366652.2_Silent_p.S529S	p.S527S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2439	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	529			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1581C>T	CCDS44333.1																																																																																				0.662	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		14	15	0	0	0	1	0	14	15				
DST	667	broad.mit.edu	37	6	56481858	56481858	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56481858G>C	ENST00000370765.6	-	24	6514	c.6407C>G	c.(6406-6408)gCc>gGc	p.A2136G	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1893					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTGAGGTGGCTTTCGTCAG	0.423																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6406-6408)gCc>gGc		dystonin							50.0	51.0	51.0					6																	56481858		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481858G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6407C>G	6.37:g.56481858G>C	ENSP00000359801:p.Ala2136Gly					DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	p.A2136G	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6514	-	Lung NSC(77;0.103)		1527					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6407C>G	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136162	0.37728	.	.	ENSG00000151914	ENST00000370765	T	0.69306	-0.39	5.77	5.77	0.91146	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.09310	N	0.999997	B	0.14438	0.01	B	0.18561	0.022	T	0.08994	-1.0695	7	0.10111	T	0.7	.	15.1085	0.72338	0.0:0.0:0.8584:0.1416	.	2136	Q03001-3	.	G	2136	ENSP00000359801:A2136G	ENSP00000359801:A2136G	A	-	2	0	DST	56589817	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.579000	0.53900	2.890000	0.99128	0.650000	0.86243	GCC		0.423	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		23	40	0	0	0	1	0	23	40				
DCXR	51181	broad.mit.edu	37	17	79993888	79993888	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79993888C>T	ENST00000306869.2	-	8	732	c.683G>A	c.(682-684)gGc>gAc	p.G228D	DCXR_ENST00000584318.1_5'Flank|RP13-650J16.1_ENST00000582558.1_RNA|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	228					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	p.G228D(1)		kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGTGGTCATGCCACTTCGGTC	0.642																																						ENST00000306869.2																			1	Substitution - Missense(1)	p.G228D(1)	kidney(1)	kidney(1)|lung(3)	4						c.(682-684)gGc>gAc		dicarbonyl/L-xylulose reductase							72.0	60.0	64.0					17																	79993888		2203	4300	6503	SO:0001583	missense	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79993888C>T	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.683G>A	17.37:g.79993888C>T	ENSP00000303356:p.Gly228Asp						p.G228D	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	732	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		228					Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	c.683G>A	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	C	6.578	0.474933	0.12521	.	.	ENSG00000169738	ENST00000306869	T	0.21932	1.98	4.74	-0.241	0.13043	NAD(P)-binding domain (1);	1.049970	0.07423	N	0.894398	T	0.15869	0.0382	N	0.17345	0.48	0.28103	N	0.931316	B	0.17038	0.02	B	0.19666	0.026	T	0.32877	-0.9890	9	.	.	.	.	17.8393	0.88710	0.0:0.2373:0.7627:0.0	.	228	Q7Z4W1	DCXR_HUMAN	D	228	ENSP00000303356:G228D	.	G	-	2	0	DCXR	77587177	0.937000	0.31787	0.034000	0.17996	0.116000	0.19942	1.522000	0.35921	0.157000	0.19338	0.655000	0.94253	GGC		0.642	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			36	41	0	0	0	1	0	36	41				
HSPD1	3329	broad.mit.edu	37	2	198353833	198353833	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198353833G>A	ENST00000388968.3	-	9	1375	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	HSPD1_ENST00000345042.2_Missense_Mutation_p.R370C	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	370					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.R370S(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTGAATACGTTTTTCAATT	0.398																																						ENST00000388968.3																			1	Substitution - Missense(1)	p.R370S(1)	endometrium(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1108-1110)Cgt>Tgt		heat shock 60kDa protein 1 (chaperonin)							78.0	73.0	75.0					2																	198353833		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353833G>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1108C>T	2.37:g.198353833G>A	ENSP00000373620:p.Arg370Cys					HSPD1_ENST00000345042.2_Missense_Mutation_p.R370C	p.R370C	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		9	1375	-			370					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.1108C>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847630	0.71603	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	T;T	0.73047	-0.71;-0.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	H	0.94582	3.555	0.80722	D	1	P;B;B	0.43024	0.798;0.41;0.018	P;B;B	0.51415	0.669;0.312;0.012	D	0.89892	0.4038	10	0.87932	D	0	-0.5346	18.625	0.91334	0.0:0.0:1.0:0.0	.	361;370;370	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	C	370;370;226	ENSP00000373620:R370C;ENSP00000340019:R370C	ENSP00000340019:R370C	R	-	1	0	HSPD1	198062078	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.841000	0.86834	2.464000	0.83262	0.484000	0.47621	CGT		0.398	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		34	39	0	0	0	1	0	34	39				
SLC1A5	6510	broad.mit.edu	37	19	47278811	47278811	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47278811C>T	ENST00000542575.2	-	8	2210	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	SLC1A5_ENST00000412532.2_Missense_Mutation_p.A300T|SLC1A5_ENST00000434726.2_Missense_Mutation_p.A326T|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.A352T	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	528					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCATCCCCTGCGGGCCCCCGA	0.592																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1582-1584)Gca>Aca		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						90.0	101.0	97.0					19																	47278811		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278811C>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1582G>A	19.37:g.47278811C>T	ENSP00000444408:p.Ala528Thr					SLC1A5_ENST00000434726.2_Missense_Mutation_p.A326T|SLC1A5_ENST00000412532.2_Missense_Mutation_p.A300T|SLC1A5_ENST00000594991.1_Missense_Mutation_p.A352T|FKRP_ENST00000600646.1_Intron	p.A528T	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2210	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	528					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1582G>A	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	c	10.89	1.478403	0.26511	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65178	0.66;-0.14;-0.12	4.88	-2.36	0.06663	.	0.485954	0.20230	N	0.096505	T	0.38134	0.1029	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.09377	0.004;0.004;0.004	T	0.13124	-1.0521	10	0.14656	T	0.56	-34.2952	0.5073	0.00590	0.37:0.2308:0.1208:0.2783	.	326;528;528	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	T	528;326;300;535	ENSP00000444408:A528T;ENSP00000406532:A326T;ENSP00000397924:A300T	ENSP00000303623:A535T	A	-	1	0	SLC1A5	51970651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.514000	0.02254	-0.441000	0.07201	-1.328000	0.01277	GCA		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			40	66	0	0	0	1	0	40	66				
ARG1	383	broad.mit.edu	37	6	131904532	131904532	+	Missense_Mutation	SNP	G	G	A	rs104893948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131904532G>A	ENST00000368087.3	+	7	842	c.703G>A	c.(703-705)Gga>Aga	p.G235R	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.G243R			P05089	ARGI1_HUMAN	arginase 1	235			G -> R (in ARGIN). {ECO:0000269|PubMed:1463019}.		arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGATGTTGACGGACTGGACCC	0.408																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	GRCh37	CM920105|CM962599	ARG1	M	rs104893948	c.(703-705)Gga>Aga		arginase 1	L-Ornithine(DB00129)						118.0	113.0	115.0					6																	131904532		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904532G>A		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.703G>A	6.37:g.131904532G>A	ENSP00000357066:p.Gly235Arg					ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.G243R|MED23_ENST00000354577.4_Intron	p.G235R			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	7	842	+	Breast(56;0.0753)		235		G -> R (in ARGIN).			A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.703G>A	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464206	0.96257	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;D	0.85088	-1.94;-1.94	6.02	6.02	0.97574	Ureohydrolase domain (1);	0.048503	0.85682	D	0.000000	D	0.91415	0.7291	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64595	0.88;0.927	D	0.91699	0.5372	10	0.87932	D	0	-20.6168	18.0345	0.89296	0.0:0.0:1.0:0.0	.	243;235	P05089-2;P05089	.;ARGI1_HUMAN	R	235;243	ENSP00000357066:G235R;ENSP00000349446:G243R	ENSP00000349446:G243R	G	+	1	0	ARG1	131946225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.865000	0.98341	0.655000	0.94253	GGA		0.408	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			49	79	0	0	0	1	0	49	79				
PEX12	5193	broad.mit.edu	37	17	33900674	33900674	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33900674C>T	ENST00000225873.4	-	0	2675				RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAAATGCAGCGATGCGATGA	0.423																																						ENST00000592381.1																			0																				108.0	95.0	99.0					17																	33900674		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr17:33900674C>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900674C>T														0	382	+								B2R6M2	RNA	SNP	ENST00000225873.4	37		CCDS11296.1																																																																																				0.423	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		18	39	0	0	0	1	0	18	39				
PCDHA4	56144	broad.mit.edu	37	5	140188964	140188964	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140188964C>T	ENST00000530339.1	+	1	2192	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A731V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A731V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGGGCGCGTGCGCTCCG	0.667																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2191-2193)gCg>gTg									56.0	53.0	54.0					5																	140188964		2202	4299	6501	SO:0001583	missense	0							g.chr5:140188964C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2192C>T	5.37:g.140188964C>T	ENSP00000435300:p.Ala731Val					PCDHA4_ENST00000512229.2_Missense_Mutation_p.A731V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A731V|PCDHA2_ENST00000526136.1_Intron	p.A731V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2192	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2192C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	0.209	-1.038487	0.02013	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.12361	2.69;2.69;2.69	3.83	-2.37	0.06643	.	0.745147	0.11088	U	0.601135	T	0.06050	0.0157	N	0.20807	0.61	0.09310	N	1	B;B;B	0.15141	0.012;0.003;0.005	B;B;B	0.15484	0.013;0.004;0.002	T	0.41448	-0.9508	10	0.19147	T	0.46	.	2.1366	0.03764	0.149:0.1595:0.1484:0.5432	.	731;731;731	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	731	ENSP00000423470:A731V;ENSP00000349344:A731V;ENSP00000435300:A731V	ENSP00000349344:A731V	A	+	2	0	PCDHA4	140169148	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.250000	0.08830	-0.344000	0.08338	-0.458000	0.05436	GCG		0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		19	30	0	0	0	1	0	19	30				
C19orf71	100128569	broad.mit.edu	37	19	3542791	3542791	+	Intron	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3542791C>A	ENST00000329493.5	+	2	107				MFSD12_ENST00000398558.4_Missense_Mutation_p.W535C|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Intron	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71											endometrium(2)	2						AGTGGGTCCCCCAGTCTTCCC	0.622																																						ENST00000398558.4																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(1603-1605)tgG>tgT		major facilitator superfamily domain containing 12							25.0	28.0	27.0					19																	3542791		1925	4122	6047	SO:0001627	intron_variant	126321				transmembrane transport	integral to membrane		g.chr19:3542791C>A		CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.84-442C>A	19.37:g.3542791C>A						C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	p.W535C	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN			10	1604	-			0						Missense_Mutation	SNP	ENST00000329493.5	37	c.1605G>T	CCDS45918.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030716	0.19512	.	.	ENSG00000161091	ENST00000398558	T	0.20881	2.04	1.22	-1.57	0.08506	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.23018	0.043	T	0.24225	-1.0166	9	0.87932	D	0	13.6263	2.3825	0.04357	0.0:0.4123:0.3316:0.256	.	535	A8MXP7	.	C	535	ENSP00000381566:W535C	ENSP00000381566:W535C	W	-	3	0	C19orf28	3493791	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.067000	0.11579	-0.430000	0.07318	0.467000	0.42956	TGG		0.622	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580		12	5	1	0	0.0167234	1	0.0168567	12	5				
TNK2	10188	broad.mit.edu	37	3	195611759	195611759	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195611759C>T	ENST00000333602.6	-	4	997	c.380G>A	c.(379-381)cGc>cAc	p.R127H	TNK2_ENST00000316664.3_Missense_Mutation_p.R127H|TNK2_ENST00000381916.2_Missense_Mutation_p.R190H|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.R127H|TNK2_ENST00000428187.1_Missense_Mutation_p.R159H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCAGGAGGCGCAGGTCCTT	0.682																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(379-381)cGc>cAc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						39.0	39.0	39.0					3																	195611759		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611759C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.380G>A	3.37:g.195611759C>T	ENSP00000329425:p.Arg127His					TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Missense_Mutation_p.R127H|TNK2_ENST00000381916.2_Missense_Mutation_p.R190H|TNK2_ENST00000428187.1_Missense_Mutation_p.R159H|TNK2_ENST00000392400.1_Missense_Mutation_p.R127H	p.R127H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	4	997	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	127			Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.380G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131882	0.37630	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	4.92	0.347	0.16022	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.540080	0.18583	N	0.136971	T	0.73210	0.3558	L	0.50333	1.59	0.25959	N	0.98265	B;B;B;B	0.09022	0.002;0.001;0.002;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.56962	-0.7892	10	0.23302	T	0.38	.	7.3519	0.26695	0.0:0.5495:0.2658:0.1847	.	127;127;190;159	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	H	127;190;159;127;127	ENSP00000329425:R127H;ENSP00000371341:R190H;ENSP00000392546:R159H;ENSP00000376201:R127H;ENSP00000323216:R127H	ENSP00000323216:R127H	R	-	2	0	TNK2	197096156	0.534000	0.26362	0.926000	0.36857	0.960000	0.62799	0.874000	0.28065	0.107000	0.17824	0.407000	0.27541	CGC		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		5	14	0	0	0	1	0	5	14				
ADAMTSL1	92949	broad.mit.edu	37	9	18681926	18681926	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18681926C>T	ENST00000380548.4	+	12	1797	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	ADAMTSL1_ENST00000276935.6_Silent_p.C486C|ADAMTSL1_ENST00000327883.7_Silent_p.C486C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	486	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGGAATGCATCGTACCCA	0.488																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1456-1458)tgC>tgT		ADAMTS-like 1							233.0	211.0	218.0					9																	18681926		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18681926C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1458C>T	9.37:g.18681926C>T						ADAMTSL1_ENST00000327883.7_Silent_p.C486C|ADAMTSL1_ENST00000276935.6_Silent_p.C486C	p.C486C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	12	1797	+			486			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.1458C>T	CCDS47954.1																																																																																				0.488	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			38	66	0	0	0	1	0	38	66				
CCDC88B	283234	broad.mit.edu	37	11	64120867	64120867	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64120867G>T	ENST00000356786.5	+	22	3776	c.3732G>T	c.(3730-3732)caG>caT	p.Q1244H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.Q396H|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1244						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAACCGGCAGCTGCTGGCTG	0.662																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3730-3732)caG>caT		coiled-coil domain containing 88B							24.0	31.0	28.0					11																	64120867		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120867G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3732G>T	11.37:g.64120867G>T	ENSP00000349238:p.Gln1244His					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.Q396H|CCDC88B_ENST00000301897.4_5'UTR	p.Q1244H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			22	3776	+			1244					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3732G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	0.977	-0.698413	0.03279	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.58940	0.3;0.3	3.45	3.45	0.39498	.	.	.	.	.	T	0.38692	0.1050	N	0.01352	-0.895	0.80722	D	1	B;D;B;B	0.71674	0.285;0.998;0.119;0.285	B;D;B;B	0.64877	0.055;0.93;0.099;0.055	T	0.41734	-0.9492	9	0.02654	T	1	.	10.5684	0.45186	0.0:0.0:1.0:0.0	.	1244;1126;380;1244	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	H	1126;1244;396	ENSP00000349238:Q1244H;ENSP00000352974:Q396H	ENSP00000349238:Q1244H	Q	+	3	2	CCDC88B	63877443	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.524000	0.45589	1.915000	0.55452	0.407000	0.27541	CAG		0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		7	15	1	0	0.0293803	1	0.0295506	7	15				
NTSR1	4923	broad.mit.edu	37	20	61389666	61389666	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61389666G>A	ENST00000370501.3	+	3	1336	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	322	Neurotensin binding. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TACCACGTGCGGCGCCTCATG	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(964-966)cGg>cAg		neurotensin receptor 1 (high affinity)							159.0	110.0	127.0					20																	61389666		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61389666G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.965G>A	20.37:g.61389666G>A	ENSP00000359532:p.Arg322Gln					NTSR1_ENST00000482259.1_3'UTR	p.R322Q	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		3	1336	+	Breast(26;3.65e-08)		322					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.965G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832510	0.71258	.	.	ENSG00000101188	ENST00000370501	T	0.72051	-0.62	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.074698	0.52532	N	0.000078	T	0.70422	0.3222	N	0.17379	0.485	0.50313	D	0.999865	D	0.71674	0.998	D	0.69142	0.962	T	0.66512	-0.5905	10	0.14252	T	0.57	-22.9404	16.8674	0.86033	0.0:0.0:1.0:0.0	.	322	P30989	NTR1_HUMAN	Q	322	ENSP00000359532:R322Q	ENSP00000359532:R322Q	R	+	2	0	NTSR1	60860111	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.025000	0.88777	1.976000	0.57569	0.467000	0.42956	CGG		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			21	25	0	0	0	1	0	21	25				
PIK3R4	30849	broad.mit.edu	37	3	130424583	130424583	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130424583T>G	ENST00000356763.3	-	12	3311	c.2754A>C	c.(2752-2754)aaA>aaC	p.K918N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	918					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTATTACTGGTTTTTTATTTT	0.343																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2752-2754)aaA>aaC		phosphoinositide-3-kinase, regulatory subunit 4							102.0	100.0	101.0					3																	130424583		2202	4300	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130424583T>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2754A>C	3.37:g.130424583T>G	ENSP00000349205:p.Lys918Asn						p.K918N	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			12	3311	-			918					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2754A>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597821	0.28445	.	.	ENSG00000196455	ENST00000356763	T	0.44881	0.91	5.64	-0.878	0.10617	.	0.089833	0.85682	D	0.000000	T	0.19046	0.0457	N	0.08118	0	0.33982	D	0.64811	B	0.31318	0.319	B	0.28916	0.096	T	0.24012	-1.0172	10	0.20519	T	0.43	-23.8172	12.0516	0.53509	0.0:0.4966:0.0:0.5034	.	918	Q99570	PI3R4_HUMAN	N	918	ENSP00000349205:K918N	ENSP00000349205:K918N	K	-	3	2	PIK3R4	131907273	0.981000	0.34729	0.727000	0.30756	0.383000	0.30230	0.009000	0.13219	-0.109000	0.12044	0.533000	0.62120	AAA		0.343	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		28	22	0	0	0	1	0	28	22				
B3GALT5	10317	broad.mit.edu	37	21	41033253	41033253	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41033253G>T	ENST00000380620.4	+	5	1359	c.767G>T	c.(766-768)aGa>aTa	p.R256I	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.R256I|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R256I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R256I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	256					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CTGAACATCAGATTGGAGGAG	0.552																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(766-768)aGa>aTa		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							91.0	91.0	91.0					21																	41033253		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033253G>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.767G>T	21.37:g.41033253G>T	ENSP00000369994:p.Arg256Ile					B3GALT5_ENST00000398714.2_Missense_Mutation_p.R256I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R256I|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R256I	p.R256I			Q9Y2C3	B3GT5_HUMAN			5	1359	+		Prostate(19;2.55e-06)	256					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.767G>T	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.060946	0.19987	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.64	-1.7	0.08159	.	0.782790	0.11146	N	0.594673	T	0.80308	0.4599	L	0.45352	1.415	0.19775	N	0.999954	B	0.33198	0.401	B	0.36378	0.223	T	0.67177	-0.5736	10	0.38643	T	0.18	.	6.7662	0.23568	0.6012:0.2697:0.1292:0.0	.	256	Q9Y2C3	B3GT5_HUMAN	I	256	ENSP00000369994:R256I;ENSP00000369992:R256I;ENSP00000343318:R256I;ENSP00000381699:R256I	ENSP00000343318:R256I	R	+	2	0	B3GALT5	39955123	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.142000	0.16096	-0.542000	0.06249	0.655000	0.94253	AGA		0.552	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		27	39	1	0	4.22769e-11	1	4.54161e-11	27	39				
SCN4A	6329	broad.mit.edu	37	17	62049810	62049810	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62049810C>A	ENST00000435607.1	-	2	370	c.294G>T	c.(292-294)aaG>aaT	p.K98N	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Missense_Mutation_p.K98N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	98					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCCTTGCCCTTGTTGAGTA	0.577																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(292-294)aaG>aaT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						80.0	87.0	85.0					17																	62049810		2177	4273	6450	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049810C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.294G>T	17.37:g.62049810C>A	ENSP00000396320:p.Lys98Asn					SCN4A_ENST00000578147.1_Missense_Mutation_p.K98N	p.K98N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			2	370	-			98					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.294G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124295	0.56613	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	1.13	0.20643	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.86805	2.84	0.43021	D	0.994578	D	0.76494	0.999	D	0.63381	0.914	D	0.96533	0.9394	10	0.87932	D	0	.	7.5457	0.27766	0.0:0.5107:0.0:0.4893	.	98	P35499	SCN4A_HUMAN	N	98	ENSP00000396320:K98N	ENSP00000396320:K98N	K	-	3	2	SCN4A	59403542	0.730000	0.28100	0.998000	0.56505	0.963000	0.63663	-0.145000	0.10265	0.091000	0.17302	0.313000	0.20887	AAG		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		4	17	1	0	0.00116845	1	0.0011864	4	17				
C7orf31	136895	broad.mit.edu	37	7	25175697	25175697	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:25175697C>T	ENST00000409280.1	-	10	1975	c.1667G>A	c.(1666-1668)cGt>cAt	p.R556H	C7orf31_ENST00000283905.3_Missense_Mutation_p.R556H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	556								p.R556H(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTTATGGAAACGCTTTTGTGC	0.413																																						ENST00000409280.1																			1	Substitution - Missense(1)	p.R556H(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1666-1668)cGt>cAt		chromosome 7 open reading frame 31							119.0	118.0	118.0					7																	25175697		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175697C>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1667G>A	7.37:g.25175697C>T	ENSP00000386604:p.Arg556His					C7orf31_ENST00000283905.3_Missense_Mutation_p.R556H	p.R556H			Q8N865	CG031_HUMAN			10	1975	-			556					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1667G>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804797	0.50315	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07800	3.16;3.16	5.41	3.57	0.40892	.	0.200309	0.42682	D	0.000680	T	0.06600	0.0169	M	0.66939	2.045	0.19775	N	0.99996	P	0.42692	0.787	B	0.23275	0.045	T	0.39881	-0.9592	10	0.42905	T	0.14	-4.2669	5.8259	0.18554	0.142:0.635:0.0:0.223	.	556	Q8N865	CG031_HUMAN	H	556	ENSP00000386604:R556H;ENSP00000283905:R556H	ENSP00000283905:R556H	R	-	2	0	C7orf31	25142222	0.034000	0.19679	0.805000	0.32314	0.581000	0.36288	0.027000	0.13621	1.412000	0.46977	0.561000	0.74099	CGT		0.413	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		9	90	0	0	0	1	0	9	90				
KMT2D	8085	broad.mit.edu	37	12	49445673	49445673	+	Missense_Mutation	SNP	C	C	T	rs377761041		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49445673C>T	ENST00000301067.7	-	10	1792	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	598	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGAACAGACGAGATGCCTC	0.612																																						ENST00000301067.7																			0											c.(1792-1794)cGt>cAt		lysine (K)-specific methyltransferase 2D		C	HIS/ARG	0,4270		0,0,2135	97.0	100.0	99.0		1793	2.1	0.0	12		99	2,8456		0,2,4227	no	missense	MLL2	NM_003482.3	29	0,2,6362	TT,TC,CC		0.0236,0.0,0.0157	possibly-damaging	598/5538	49445673	2,12726	2135	4229	6364	SO:0001583	missense	8085							g.chr12:49445673C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1793G>A	12.37:g.49445673C>T	ENSP00000301067:p.Arg598His						p.R598H	NM_003482.3	NP_003473.3					10	1792	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1793G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325685	0.10900	0.0	2.36E-4	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	3.99	2.07	0.26955	.	.	.	.	.	T	0.53238	0.1784	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.28385	0.089	T	0.45308	-0.9270	9	0.87932	D	0	.	11.8012	0.52128	0.0:0.471:0.529:0.0	.	598	O14686	MLL2_HUMAN	H	598	ENSP00000301067:R598H	ENSP00000301067:R598H	R	-	2	0	MLL2	47731940	0.002000	0.14202	0.011000	0.14972	0.784000	0.44337	0.287000	0.18920	0.597000	0.29811	0.313000	0.20887	CGT		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	24	0	0	0	1	0	19	24				
TOX3	27324	broad.mit.edu	37	16	52498096	52498096	+	Missense_Mutation	SNP	G	G	A	rs371907581		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:52498096G>A	ENST00000219746.9	-	3	442	c.158C>T	c.(157-159)aCa>aTa	p.T53I	TOX3_ENST00000407228.3_Splice_Site_p.T48I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	53					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGTGTGGAATGTCTGCTAAAA	0.463																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(157-159)aCa>aTa		TOX high mobility group box family member 3		G	ILE/THR,ILE/THR	0,4000		0,0,2000	140.0	150.0	147.0		158,143	5.7	1.0	16		147	1,8349		0,1,4174	no	missense,missense-near-splice	TOX3	NM_001080430.2,NM_001146188.1	89,89	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	53/577,48/572	52498096	1,12349	2000	4175	6175	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52498096G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.158C>T	16.37:g.52498096G>A	ENSP00000219746:p.Thr53Ile					TOX3_ENST00000407228.3_Splice_Site_p.T48_splice	p.T53I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			3	442	-			53					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.158C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213476	0.79352	0.0	1.2E-4	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.51325	0.71;0.71	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.70981	-0.4724	10	0.87932	D	0	.	19.8609	0.96783	0.0:0.0:1.0:0.0	.	48;53	B4DRD0;O15405	.;TOX3_HUMAN	I	53;48	ENSP00000219746:T53I;ENSP00000385705:T48I	ENSP00000219746:T53I	T	-	2	0	TOX3	51055597	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.869000	0.99810	2.700000	0.92200	0.650000	0.86243	ACA		0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		19	78	0	0	0	1	0	19	78				
POLR2A	5430	broad.mit.edu	37	17	7415883	7415883	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7415883C>T	ENST00000322644.6	+	27	4979	c.4580C>T	c.(4579-4581)gCc>gTc	p.A1527V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1527					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCAACCCCTGCCTATGGCGCC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(4579-4581)gCc>gTc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							48.0	46.0	47.0					17																	7415883		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415883C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4580C>T	17.37:g.7415883C>T	ENSP00000314949:p.Ala1527Val						p.A1527V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4979	+		Prostate(122;0.173)	1527					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4580C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959123	0.34565	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.70869	-0.52	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000002	T	0.57710	0.2072	N	0.21373	0.66	0.80722	D	1	B	0.20780	0.048	B	0.13407	0.009	T	0.55270	-0.8167	10	0.36615	T	0.2	-16.9883	16.0689	0.80909	0.0:1.0:0.0:0.0	.	1527	P24928	RPB1_HUMAN	V	1483;426;1527	ENSP00000314949:A1527V	ENSP00000314949:A1527V	A	+	2	0	SLC35G6	7356607	1.000000	0.71417	0.993000	0.49108	0.707000	0.40811	5.199000	0.65152	2.301000	0.77427	0.456000	0.33151	GCC		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		12	22	0	0	0	1	0	12	22				
ACKR1	2532	broad.mit.edu	37	1	159176048	159176048	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159176048G>A	ENST00000368122.2	+	2	1498	c.819G>A	c.(817-819)ttG>ttA	p.L273L	DARC_ENST00000368121.2_Silent_p.L275L|DARC_ENST00000537147.1_Silent_p.L273L|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		273					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGTTGCTGTTGTCAACATGTC	0.567																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(817-819)ttG>ttA		Duffy blood group, atypical chemokine receptor							138.0	140.0	139.0					1																	159176048		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176048G>A																												ENST00000368122.2:c.819G>A	1.37:g.159176048G>A						DARC_ENST00000368122.2_Silent_p.L273L|DARC_ENST00000368121.2_Silent_p.L275L	p.L273L			Q16570	DUFFY_HUMAN			3	1662	+	all_hematologic(112;0.0429)		273					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.819G>A	CCDS1183.1																																																																																				0.567	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			5	135	0	0	0	1	0	5	135				
PTRH2	51651	broad.mit.edu	37	17	57774844	57774844	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57774844C>T	ENST00000470557.2	-	1	3942	c.496G>A	c.(496-498)Gca>Aca	p.A166T	PTRH2_ENST00000537860.1_Missense_Mutation_p.A166T|PTRH2_ENST00000393038.2_Missense_Mutation_p.A166T|PTRH2_ENST00000409433.2_Missense_Mutation_p.A167T|PTRH2_ENST00000579915.1_5'Flank			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	166					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATTAGGTCTGCTGGTCCTGGC	0.453																																						ENST00000470557.2																			0				large_intestine(1)	1						c.(496-498)Gca>Aca		peptidyl-tRNA hydrolase 2							80.0	76.0	78.0					17																	57774844		2203	4300	6503	SO:0001583	missense	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57774844C>T	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.496G>A	17.37:g.57774844C>T	ENSP00000464327:p.Ala166Thr					PTRH2_ENST00000409433.2_Missense_Mutation_p.A167T|PTRH2_ENST00000537860.1_Missense_Mutation_p.A166T|PTRH2_ENST00000393038.2_Missense_Mutation_p.A166T	p.A166T			Q9Y3E5	PTH2_HUMAN			1	3942	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		166					B3KUY4|Q9NTE5	Missense_Mutation	SNP	ENST00000470557.2	37	c.496G>A	CCDS11618.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164503	0.78339	.	.	ENSG00000141378	ENST00000393038;ENST00000409433;ENST00000537860	.	.	.	5.82	5.82	0.92795	Peptidyl-tRNA hydrolase II domain (2);	0.136532	0.48767	U	0.000175	T	0.59321	0.2185	L	0.55481	1.735	0.80722	D	1	B	0.30211	0.273	B	0.27076	0.076	T	0.54470	-0.8289	9	0.20046	T	0.44	-0.5042	20.0953	0.97838	0.0:1.0:0.0:0.0	.	166	Q9Y3E5	PTH2_HUMAN	T	166;167;166	.	ENSP00000376758:A166T	A	-	1	0	PTRH2	55129626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.861000	0.62969	2.767000	0.95098	0.655000	0.94253	GCA		0.453	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		13	38	0	0	0	1	0	13	38				
ARHGEF10	9639	broad.mit.edu	37	8	1857628	1857628	+	Missense_Mutation	SNP	C	C	T	rs201394769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1857628C>T	ENST00000398564.1	+	18	2210	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A737V|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.A736V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A674V|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A712V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	737					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GTTGCTAACGCGAAACCAAGT	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19030	0.0		0.0	False		,,,				2504	0.0					ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2206-2208)gCg>gTg		Rho guanine nucleotide exchange factor (GEF) 10		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	56.0	53.0	54.0		2135	-1.0	0.0	8		54	0,8600		0,0,4300	no	missense	ARHGEF10	NM_014629.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	712/1345	1857628	1,13005	2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1857628C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2210C>T	8.37:g.1857628C>T	ENSP00000381571:p.Ala737Val					ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A712V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A737V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A674V|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A737V	p.A736V			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2370	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	737					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2207C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.166	0.398875	0.11696	2.27E-4	0.0	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.59638	0.27;0.31;0.27;0.27;0.25;0.41	5.07	-1.03	0.10102	.	0.988105	0.08237	N	0.976690	T	0.41442	0.1159	N	0.22421	0.69	0.47905	D	0.999542	B;B;B	0.20671	0.047;0.037;0.005	B;B;B	0.12156	0.004;0.007;0.005	T	0.12268	-1.0554	10	0.32370	T	0.25	-7.7201	10.9716	0.47442	0.0:0.7597:0.0:0.2403	.	737;674;712	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	V	712;674;736;737;737;385	ENSP00000340297:A712V;ENSP00000427909:A674V;ENSP00000431012:A736V;ENSP00000381571:A737V;ENSP00000262112:A737V;ENSP00000427768:A385V	ENSP00000262112:A737V	A	+	2	0	ARHGEF10	1845035	0.003000	0.15002	0.005000	0.12908	0.292000	0.27327	0.141000	0.16076	-0.163000	0.10946	-0.322000	0.08575	GCG		0.612	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				11	16	0	0	0	1	0	11	16				
TNK1	8711	broad.mit.edu	37	17	7287852	7287852	+	Missense_Mutation	SNP	G	G	A	rs376599357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7287852G>A	ENST00000576812.1	+	7	1285	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	TNK1_ENST00000311668.2_Missense_Mutation_p.V306M|TNK1_ENST00000570896.1_Missense_Mutation_p.V306M	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				TGCCTCGGACGTGTGGATGTT	0.667																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(916-918)Gtg>Atg		tyrosine kinase, non-receptor, 1		G	MET/VAL	0,4218		0,0,2109	27.0	31.0	30.0		916	5.0	1.0	17		30	1,8437		0,1,4218	no	missense	TNK1	NM_003985.3	21	0,1,6327	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	306/662	7287852	1,12655	2109	4219	6328	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7287852G>A	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.916G>A	17.37:g.7287852G>A	ENSP00000459799:p.Val306Met					TNK1_ENST00000311668.2_Missense_Mutation_p.V306M|TNK1_ENST00000576812.1_Missense_Mutation_p.V306M	p.V306M			Q13470	TNK1_HUMAN			8	1362	+		Prostate(122;0.157)	306			Protein kinase.			Missense_Mutation	SNP	ENST00000576812.1	37	c.916G>A	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867393	0.91511	0.0	1.19E-4	ENSG00000174292	ENST00000311668	D	0.88431	-2.38	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44285	D	0.000468	D	0.94791	0.8318	M	0.85630	2.765	0.48236	D	0.999619	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95112	0.8239	10	0.72032	D	0.01	.	16.1351	0.81476	0.0:0.0:1.0:0.0	.	306;306	Q13470-2;Q13470	.;TNK1_HUMAN	M	306	ENSP00000312309:V306M	ENSP00000312309:V306M	V	+	1	0	TNK1	7228576	0.957000	0.32711	0.998000	0.56505	0.964000	0.63967	2.308000	0.43690	2.764000	0.94973	0.555000	0.69702	GTG		0.667	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		8	9	0	0	0	1	0	8	9				
CHRNB2	1141	broad.mit.edu	37	1	154544124	154544124	+	Silent	SNP	G	G	A	rs140739605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154544124G>A	ENST00000368476.3	+	5	1089	c.825G>A	c.(823-825)gcG>gcA	p.A275A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	275					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TGCTGCTGGCGCTCACGGTCT	0.577																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(823-825)gcG>gcA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)	G		0,4406		0,0,2203	264.0	197.0	219.0		825	-0.8	1.0	1	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHRNB2	NM_000748.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		275/503	154544124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544124G>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.825G>A	1.37:g.154544124G>A							p.A275A	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1089	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		275					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.825G>A	CCDS1070.1																																																																																				0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		35	44	0	0	0	1	0	35	44				
SALL1	6299	broad.mit.edu	37	16	51174772	51174772	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:51174772C>T	ENST00000251020.4	-	2	1394	c.1361G>A	c.(1360-1362)tGc>tAc	p.C454Y	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C357Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	454					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GACCTTCGCGCAGAACCTGCA	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1069-1071)tGc>tAc		spalt-like transcription factor 1							105.0	97.0	99.0					16																	51174772		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174772C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1361G>A	16.37:g.51174772C>T	ENSP00000251020:p.Cys454Tyr					SALL1_ENST00000251020.4_Missense_Mutation_p.C454Y|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.C357Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1501	-		all_cancers(37;0.0322)	454					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1070G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499849	0.64298	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.57752	0.38;0.38	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79790	-0.1655	10	0.66056	D	0.02	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	454	Q9NSC2	SALL1_HUMAN	Y	454;357;418	ENSP00000251020:C454Y;ENSP00000407914:C357Y	ENSP00000251020:C454Y	C	-	2	0	SALL1	49732273	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	7.814000	0.86154	2.386000	0.81285	0.563000	0.77884	TGC		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		17	70	0	0	0	1	0	17	70				
KCNJ14	3770	broad.mit.edu	37	19	48965166	48965166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48965166G>A	ENST00000391884.1	+	1	661	c.185G>A	c.(184-186)cGt>cAt	p.R62H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	62					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TGCAACGTGCGTTTCGTAAAC	0.687																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(184-186)cGt>cAt		potassium inwardly-rectifying channel, subfamily J, member 14							53.0	35.0	41.0					19																	48965166		2202	4300	6502	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965166G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.185G>A	19.37:g.48965166G>A	ENSP00000375756:p.Arg62His					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62H	p.R62H			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	661	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	62						Missense_Mutation	SNP	ENST00000391884.1	37	c.185G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670327	0.29693	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94046	-3.34;-3.34	4.26	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.299511	0.33161	N	0.005212	D	0.82875	0.5132	N	0.12527	0.23	0.32810	D	0.501303	B	0.22346	0.068	B	0.22386	0.039	T	0.77544	-0.2548	10	0.09590	T	0.72	.	8.2071	0.31463	0.107:0.0:0.893:0.0	.	62	Q9UNX9	IRK14_HUMAN	H	62	ENSP00000341479:R62H;ENSP00000375756:R62H	ENSP00000341479:R62H	R	+	2	0	KCNJ14	53656978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.777000	0.62361	2.371000	0.80710	0.655000	0.94253	CGT		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		4	7	0	0	0	1	0	4	7				
ARV1	64801	broad.mit.edu	37	1	231132996	231132996	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231132996C>T	ENST00000310256.2	+	5	860	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ARV1_ENST00000366658.2_Missense_Mutation_p.S228F	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	268					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		ATCTTTAAATCTCAGGACTTC	0.423																																						ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(802-804)tCt>tTt		ARV1 homolog (S. cerevisiae)							225.0	200.0	209.0					1																	231132996		2203	4300	6503	SO:0001583	missense	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231132996C>T	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.803C>T	1.37:g.231132996C>T	ENSP00000312458:p.Ser268Phe					ARV1_ENST00000366658.2_Missense_Mutation_p.S228F	p.S268F	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	5	860	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	268					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	ENST00000310256.2	37	c.803C>T	CCDS1589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.96|10.96	1.498369|1.498369	0.26861|0.26861	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256;ENST00000366658	.|T;T	.|0.15372	.|2.43;2.43	4.42|4.42	1.3|1.3	0.21679|0.21679	.|.	.|1.075820	.|0.07239	.|N	.|0.863904	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.39800|0.39800	-0.9596|-0.9596	5|9	.|.	.|.	.|.	-0.6929|-0.6929	6.201|6.201	0.20575|0.20575	0.3135:0.5976:0.0:0.0889|0.3135:0.5976:0.0:0.0889	.|.	.|268	.|Q9H2C2	.|ARV1_HUMAN	F|F	265;288|268;228	.|ENSP00000312458:S268F;ENSP00000355618:S228F	.|.	L|S	+|+	1|2	0|0	ARV1|ARV1	229199619|229199619	0.037000|0.037000	0.19845|0.19845	0.081000|0.081000	0.20488|0.20488	0.720000|0.720000	0.41350|0.41350	0.215000|0.215000	0.17562|0.17562	0.175000|0.175000	0.19841|0.19841	0.645000|0.645000	0.84053|0.84053	CTC|TCT		0.423	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		27	41	0	0	0	1	0	27	41				
MDN1	23195	broad.mit.edu	37	6	90484448	90484448	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90484448T>C	ENST00000369393.3	-	13	1941	c.1826A>G	c.(1825-1827)gAa>gGa	p.E609G	MDN1_ENST00000428876.1_Missense_Mutation_p.E609G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	609					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAAAGAATTCAGCCTGTAG	0.403																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1825-1827)gAa>gGa		MDN1, midasin homolog (yeast)							100.0	95.0	97.0					6																	90484448		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90484448T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1826A>G	6.37:g.90484448T>C	ENSP00000358400:p.Glu609Gly					MDN1_ENST00000428876.1_Missense_Mutation_p.E609G	p.E609G			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	13	1941	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	609					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1826A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379114	0.24944	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.20463	3.84;3.84;2.07	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.143577	0.45867	D	0.000321	T	0.21921	0.0528	M	0.81802	2.56	0.47308	D	0.999385	P;B	0.36392	0.551;0.249	B;B	0.40602	0.334;0.122	T	0.03259	-1.1055	10	0.51188	T	0.08	.	14.9554	0.71110	0.0:0.0:0.0:1.0	.	536;609	Q5T795;Q9NU22	.;MDN1_HUMAN	G	609;609;536	ENSP00000358400:E609G;ENSP00000413970:E609G;ENSP00000409664:E536G	ENSP00000358400:E609G	E	-	2	0	MDN1	90541169	1.000000	0.71417	0.938000	0.37757	0.341000	0.28922	6.029000	0.70895	2.018000	0.59344	0.533000	0.62120	GAA		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			20	28	0	0	0	1	0	20	28				
ATP5C1	509	broad.mit.edu	37	10	7841803	7841803	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7841803C>T	ENST00000356708.7	+	5	576	c.497C>T	c.(496-498)gCg>gTg	p.A166V	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A166V|ATP5C1_ENST00000541227.1_Missense_Mutation_p.A119V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	166					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTGGAGATGCGTCAGTCATT	0.398																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(496-498)gCg>gTg		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							61.0	61.0	61.0					10																	7841803		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7841803C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.497C>T	10.37:g.7841803C>T	ENSP00000349142:p.Ala166Val					ATP5C1_ENST00000541227.1_Missense_Mutation_p.A119V|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A166V	p.A166V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			5	576	+			166					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.497C>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971894	0.92919	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.73	5.73	0.89815	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.64404	1.975	0.80722	D	1	P	0.50369	0.934	P	0.44897	0.463	T	0.67848	-0.5564	9	0.87932	D	0	-12.3949	20.2602	0.98440	0.0:1.0:0.0:0.0	.	166	P36542	ATPG_HUMAN	V	166;166;119	.	ENSP00000338568:A166V	A	+	2	0	ATP5C1	7881809	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	7.729000	0.84864	2.861000	0.98227	0.655000	0.94253	GCG		0.398	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		18	39	0	0	0	1	0	18	39				
FAM178A	55719	broad.mit.edu	37	10	102683848	102683848	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102683848C>T	ENST00000238961.4	+	5	1632	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	FAM178A_ENST00000370269.3_Missense_Mutation_p.R364C|FAM178A_ENST00000370271.3_Missense_Mutation_p.R364C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	364						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CCTTGAGAAGCGTCCTGATGG	0.393																																						ENST00000238961.3																			0											c.(1090-1092)Cgt>Tgt		family with sequence similarity 178, member A							58.0	59.0	59.0					10																	102683848		2203	4300	6503	SO:0001583	missense	0							g.chr10:102683848C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1090C>T	10.37:g.102683848C>T	ENSP00000238961:p.Arg364Cys					FAM178A_ENST00000370271.3_Missense_Mutation_p.R364C|FAM178A_ENST00000370269.3_Missense_Mutation_p.R364C	p.R364C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1238	+			364					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1090C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063401	0.55432	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.62364	0.03;0.69;0.67	5.37	4.4	0.53042	.	0.000000	0.56097	D	0.000034	T	0.62024	0.2394	L	0.27053	0.805	0.40747	D	0.982889	D;D;D;D	0.76494	0.999;0.994;0.997;0.999	P;P;P;P	0.59703	0.855;0.742;0.742;0.862	T	0.64580	-0.6374	10	0.72032	D	0.01	-7.8632	10.6552	0.45671	0.1906:0.8094:0.0:0.0	.	13;364;364;364	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	364	ENSP00000359294:R364C;ENSP00000238961:R364C;ENSP00000359292:R364C	ENSP00000238961:R364C	R	+	1	0	FAM178A	102673838	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.833000	0.39161	2.902000	0.99343	0.650000	0.86243	CGT		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			26	36	0	0	0	1	0	26	36				
NNMT	4837	broad.mit.edu	37	11	114168749	114168749	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114168749C>A	ENST00000535401.1	+	4	495	c.231C>A	c.(229-231)tcC>tcA	p.S77S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'Flank|NNMT_ENST00000299964.3_Silent_p.S77S|NNMT_ENST00000545255.1_5'Flank			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	77					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTTGTGAATCCTTTAAGGAGA	0.532																																						ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)tcC>tcA		nicotinamide N-methyltransferase	Niacin(DB00627)						164.0	157.0	159.0					11																	114168749		2201	4296	6497	SO:0001819	synonymous_variant	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114168749C>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.231C>A	11.37:g.114168749C>A						NNMT_ENST00000299964.3_Silent_p.S77S|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR	p.S77S			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	495	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	77						Silent	SNP	ENST00000535401.1	37	c.231C>A	CCDS8368.1																																																																																				0.532	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		34	49	1	0	1.90571e-15	1	2.08616e-15	34	49				
SDK1	221935	broad.mit.edu	37	7	4198177	4198177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4198177C>T	ENST00000404826.2	+	31	4862	c.4723C>T	c.(4723-4725)Cag>Tag	p.Q1575*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1575*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1575	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCACGCTGCAGGATGGTGA	0.617																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4723-4725)Cag>Tag		sidekick cell adhesion molecule 1							78.0	70.0	73.0					7																	4198177		2203	4300	6503	SO:0001587	stop_gained	221935				cell adhesion	integral to membrane		g.chr7:4198177C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4723C>T	7.37:g.4198177C>T	ENSP00000385899:p.Gln1575*					SDK1_ENST00000389531.3_Nonsense_Mutation_p.Q1575*	p.Q1575*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	31	4862	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1575					Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	c.4723C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	47	13.140219	0.99722	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.8759	0.88825	0.0:1.0:0.0:0.0	.	.	.	.	X	1575	.	ENSP00000374182:Q1575X	Q	+	1	0	SDK1	4164703	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.717000	0.84732	2.210000	0.71456	0.563000	0.77884	CAG		0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	19	0	0	0	1	0	10	19				
NFKBIB	4793	broad.mit.edu	37	19	39398152	39398152	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39398152C>T	ENST00000313582.5	+	5	856	c.822C>T	c.(820-822)ggC>ggT	p.G274G	NFKBIB_ENST00000572515.1_Silent_p.G274G|NFKBIB_ENST00000392079.3_Silent_p.G242G	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	274					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGTACGGTGGCCGCACCCCAC	0.697																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(724-726)ggC>ggT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							31.0	32.0	32.0					19																	39398152		2199	4296	6495	SO:0001819	synonymous_variant	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398152C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.822C>T	19.37:g.39398152C>T						NFKBIB_ENST00000313582.5_Silent_p.G274G|NFKBIB_ENST00000572515.1_Silent_p.G274G	p.G242G			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	824	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		274					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.726C>T	CCDS12524.1																																																																																				0.697	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		15	26	0	0	0	1	0	15	26				
BTAF1	9044	broad.mit.edu	37	10	93753481	93753481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93753481G>T	ENST00000265990.6	+	22	3384	c.3076G>T	c.(3076-3078)Gga>Tga	p.G1026*	BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1026					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAACGGAGAGGAGCTGAATT	0.358																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3076-3078)Gga>Tga		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							95.0	90.0	92.0					10																	93753481		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93753481G>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3076G>T	10.37:g.93753481G>T	ENSP00000265990:p.Gly1026*						p.G1026*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			22	3384	+		Colorectal(252;0.0846)	1026					B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.3076G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	44	10.714386	0.99455	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8956	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	1026	.	ENSP00000265990:G1026X	G	+	1	0	BTAF1	93743461	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.225000	0.95219	2.468000	0.83385	0.650000	0.86243	GGA		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		26	32	1	0	6.12954e-19	1	6.77144e-19	26	32				
NUP210L	91181	broad.mit.edu	37	1	154042824	154042824	+	Silent	SNP	G	G	A	rs367667136		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154042824G>A	ENST00000368559.3	-	17	2550	c.2479C>T	c.(2479-2481)Cta>Tta	p.L827L	NUP210L_ENST00000271854.3_Silent_p.L827L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	827					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AAATGGGCTAGTGTTTCATTG	0.393																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2479-2481)Cta>Tta		nucleoporin 210kDa-like							150.0	137.0	141.0					1																	154042824		1901	4113	6014	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154042824G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2479C>T	1.37:g.154042824G>A						NUP210L_ENST00000271854.3_Silent_p.L827L	p.L827L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		17	2550	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		827					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2479C>T	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		49	68	0	0	0	1	0	49	68				
TMEM150A	129303	broad.mit.edu	37	2	85828160	85828160	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85828160C>T	ENST00000409668.1	-	3	651	c.184G>A	c.(184-186)Gat>Aat	p.D62N	TMEM150A_ENST00000306353.3_Silent_p.T31T|TMEM150A_ENST00000334462.5_Missense_Mutation_p.D62N			Q86TG1	T150A_HUMAN	transmembrane protein 150A	62					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGGGGGACATCGTCCAGGGTG	0.622																																						ENST00000409668.1																			0				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						c.(184-186)Gat>Aat		transmembrane protein 150A							55.0	50.0	51.0					2																	85828160		2203	4300	6503	SO:0001583	missense	129303					integral to membrane|plasma membrane		g.chr2:85828160C>T	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.184G>A	2.37:g.85828160C>T	ENSP00000387292:p.Asp62Asn					TMEM150A_ENST00000306353.3_Silent_p.T31T|TMEM150A_ENST00000334462.5_Missense_Mutation_p.D62N	p.D62N			Q86TG1	T150A_HUMAN			3	651	-			62					A8K764|B7WPQ9|D6W5L2|Q8N2R6	Missense_Mutation	SNP	ENST00000409668.1	37	c.184G>A	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006418	0.07773	.	.	ENSG00000168890	ENST00000334462;ENST00000409668	T;T	0.42900	0.96;0.96	5.06	4.18	0.49190	.	0.277582	0.39274	N	0.001403	T	0.27765	0.0683	L	0.29908	0.895	0.34689	D	0.725534	B	0.31290	0.318	B	0.23419	0.046	T	0.26155	-1.0111	10	0.17832	T	0.49	-45.7568	12.5659	0.56310	0.0:0.9117:0.0:0.0883	.	62	Q86TG1	T150A_HUMAN	N	62	ENSP00000334708:D62N;ENSP00000387292:D62N	ENSP00000334708:D62N	D	-	1	0	TMEM150A	85681671	0.918000	0.31147	0.968000	0.41197	0.915000	0.54546	1.820000	0.39032	0.537000	0.28751	-0.797000	0.03246	GAT		0.622	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342		3	18	0	0	0	1	0	3	18				
TAS1R3	83756	broad.mit.edu	37	1	1267214	1267214	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1267214A>G	ENST00000339381.5	+	2	420	c.388A>G	c.(388-390)Aac>Gac	p.N130D		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	130					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CGCCTACTGCAACTACACGCA	0.617																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(388-390)Aac>Gac		taste receptor, type 1, member 3	Aspartame(DB00168)						48.0	51.0	50.0					1																	1267214		2201	4295	6496	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267214A>G	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.388A>G	1.37:g.1267214A>G	ENSP00000344411:p.Asn130Asp						p.N130D	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	2	420	+	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)	130					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.388A>G	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	8.907	0.957788	0.18507	.	.	ENSG00000169962	ENST00000339381	D	0.82526	-1.62	4.89	-0.289	0.12851	Extracellular ligand-binding receptor (1);	0.077300	0.48767	N	0.000167	T	0.70552	0.3237	L	0.29908	0.895	0.32500	N	0.539025	B	0.21225	0.053	B	0.27796	0.083	T	0.62310	-0.6881	10	0.42905	T	0.14	.	7.5913	0.28023	0.4599:0.1169:0.4232:0.0	.	130	Q7RTX0	TS1R3_HUMAN	D	130	ENSP00000344411:N130D	ENSP00000344411:N130D	N	+	1	0	TAS1R3	1257077	0.942000	0.31987	0.470000	0.27216	0.086000	0.17979	2.031000	0.41117	-0.298000	0.08921	-0.464000	0.05259	AAC		0.617	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	13	0	0	0	1	0	9	13				
SEMA4G	57715	broad.mit.edu	37	10	102739701	102739701	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102739701G>A	ENST00000370250.4	+	9	1453	c.1080G>A	c.(1078-1080)cgG>cgA	p.R360R	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_Silent_p.R360R|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.R360R	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ATGGTTCCCGGCGCTGGGGTC	0.642																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1078-1080)cgG>cgA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							101.0	111.0	108.0					10																	102739701		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102739701G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1080G>A	10.37:g.102739701G>A						SEMA4G_ENST00000370250.4_Silent_p.R360R|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Silent_p.R360R	p.R360R			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	9	1158	+		Colorectal(252;0.234)	360			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.1080G>A																																																																																					0.642	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			4	118	0	0	0	1	0	4	118				
PDZRN3	23024	broad.mit.edu	37	3	73657797	73657797	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73657797C>T	ENST00000263666.4	-	2	876	c.762G>A	c.(760-762)cgG>cgA	p.R254R	PDZRN3_ENST00000308537.4_Silent_p.R254R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	254	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCCGGAGTCCCGATGCAGGA	0.428																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(760-762)cgG>cgA		PDZ domain containing ring finger 3							52.0	56.0	55.0					3																	73657797		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73657797C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.762G>A	3.37:g.73657797C>T						PDZRN3_ENST00000308537.4_Silent_p.R254R	p.R254R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	2	876	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	254			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.762G>A	CCDS33789.1																																																																																				0.428	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	10	0	0	0	1	0	4	10				
PLXND1	23129	broad.mit.edu	37	3	129280710	129280710	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129280710C>T	ENST00000324093.4	-	28	5040	c.4862G>A	c.(4861-4863)cGg>cAg	p.R1621Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1621Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1621					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCAGGTCCCGAAGGATGTA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4861-4863)cGg>cAg		plexin D1							81.0	72.0	75.0					3																	129280710		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129280710C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4862G>A	3.37:g.129280710C>T	ENSP00000317128:p.Arg1621Gln					PLXND1_ENST00000324093.4_Missense_Mutation_p.R1621Q	p.R1621Q			Q9Y4D7	PLXD1_HUMAN			28	5040	-			1621					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4862G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915153	0.17907	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10960	2.82;2.82	5.0	5.0	0.66597	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.175996	0.41001	D	0.000976	T	0.02767	0.0083	N	0.01152	-0.98	0.45439	D	0.998414	B;D	0.53151	0.267;0.958	B;B	0.32211	0.007;0.142	T	0.48980	-0.8986	10	0.02654	T	1	.	18.3082	0.90189	0.0:1.0:0.0:0.0	.	216;1621	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Q	1621	ENSP00000317128:R1621Q;ENSP00000376931:R1621Q	ENSP00000317128:R1621Q	R	-	2	0	PLXND1	130763400	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	2.900000	0.48687	2.315000	0.78130	0.462000	0.41574	CGG		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		20	27	0	0	0	1	0	20	27				
CNRIP1	25927	broad.mit.edu	37	2	68521098	68521098	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68521098G>A	ENST00000263655.3	-	3	996	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	131										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CAGTGATCCCGCTTGTGGTAA	0.488																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(391-393)Cgg>Tgg		cannabinoid receptor interacting protein 1							140.0	116.0	124.0					2																	68521098		2203	4300	6503	SO:0001583	missense	25927						protein binding	g.chr2:68521098G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.391C>T	2.37:g.68521098G>A	ENSP00000263655:p.Arg131Trp					CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_5'UTR	p.R131W	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			3	996	-			131					B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	c.391C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129014	0.77549	.	.	ENSG00000119865	ENST00000263655	.	.	.	5.54	4.6	0.57074	.	0.166784	0.50627	D	0.000106	T	0.64271	0.2583	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.67007	-0.5779	9	0.87932	D	0	-1.5641	13.0756	0.59085	0.0:0.0:0.7187:0.2813	.	131	Q96F85	CNRP1_HUMAN	W	131	.	ENSP00000263655:R131W	R	-	1	2	CNRIP1	68374602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.185000	0.50934	2.598000	0.87819	0.650000	0.86243	CGG		0.488	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		19	33	0	0	0	1	0	19	33				
ANKRD27	84079	broad.mit.edu	37	19	33137498	33137498	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33137498C>T	ENST00000306065.4	-	4	395	c.237G>A	c.(235-237)agG>agA	p.R79R	ANKRD27_ENST00000587352.1_Silent_p.R79R	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	79					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTAATTTAATCCTGTTCCCTT	0.478																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(235-237)agG>agA		ankyrin repeat domain 27 (VPS9 domain)							73.0	72.0	72.0					19																	33137498		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137498C>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.237G>A	19.37:g.33137498C>T						ANKRD27_ENST00000587352.1_Silent_p.R79R|ANKRD27_ENST00000586693.2_5'UTR	p.R79R	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			4	395	-	Esophageal squamous(110;0.137)		79					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.237G>A	CCDS32986.1																																																																																				0.478	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		11	25	0	0	0	1	0	11	25				
TENM3	55714	broad.mit.edu	37	4	183714557	183714557	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:183714557G>A	ENST00000511685.1	+	26	6855	c.6732G>A	c.(6730-6732)caG>caA	p.Q2244Q	TENM3_ENST00000406950.2_Silent_p.Q2244Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2244					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCTAGGACAGCACCTGCAGT	0.448																																						ENST00000511685.1																			0											c.(6730-6732)caG>caA		teneurin transmembrane protein 3							67.0	68.0	68.0					4																	183714557		1895	4116	6011	SO:0001819	synonymous_variant	55714							g.chr4:183714557G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6732G>A	4.37:g.183714557G>A						TENM3_ENST00000406950.2_Silent_p.Q2244Q	p.Q2244Q							26	6855	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6732G>A	CCDS47165.1																																																																																				0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	15	0	0	0	1	0	12	15				
SYT10	341359	broad.mit.edu	37	12	33529798	33529798	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33529798G>A	ENST00000228567.3	-	7	1835	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	SYT10_ENST00000535526.1_Silent_p.S332S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	513					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAGAAGGGCAGGATCCTTGAC	0.403																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1537-1539)tcC>tcT		synaptotagmin X							143.0	138.0	140.0					12																	33529798		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529798G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1539C>T	12.37:g.33529798G>A						SYT10_ENST00000535526.1_Silent_p.S332S	p.S513S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1835	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		513					Q495U2	Silent	SNP	ENST00000228567.3	37	c.1539C>T	CCDS8732.1																																																																																				0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		5	21	0	0	0	1	0	5	21				
NFATC3	4775	broad.mit.edu	37	16	68200917	68200917	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68200917C>A	ENST00000346183.3	+	5	1797	c.1773C>A	c.(1771-1773)tgC>tgA	p.C591*	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.C591*|NFATC3_ENST00000349223.5_Splice_Site_p.C591*|NFATC3_ENST00000329524.4_Splice_Site_p.C591*	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	591	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCGTTGAGTGCTGTAAGTGAG	0.398																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.e5+1		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							218.0	210.0	213.0					16																	68200917		2198	4300	6498	SO:0001630	splice_region_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200917C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1774+1C>A	16.37:g.68200917C>A						NFATC3_ENST00000346183.3_Splice_Site_p.C591_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.C591_splice|NFATC3_ENST00000329524.4_Splice_Site_p.C591_splice	p.C591_splice	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1997	+		Ovarian(137;0.0563)	591			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Splice_Site	SNP	ENST00000346183.3	37	c.1774_splice	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293187	0.80914	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	.	.	.	5.73	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9796	10.9062	0.47081	0.0:0.8571:0.0:0.1429	.	.	.	.	X	591;591;591;112	.	ENSP00000331324:C591X	C	+	3	2	NFATC3	66758418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.677000	0.46892	1.551000	0.49450	0.655000	0.94253	TGC		0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555	Nonsense_Mutation	34	59	1	0	3.21399e-22	1	3.57409e-22	34	59				
HMCN1	83872	broad.mit.edu	37	1	185894194	185894194	+	Missense_Mutation	SNP	C	C	T	rs369085610		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:185894194C>T	ENST00000271588.4	+	9	1530	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T434M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	434	Ig-like C2-type 1.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAAAGTTACGATGCCTGAG	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1300-1302)aCg>aTg		hemicentin 1		C	MET/THR	0,4406		0,0,2203	79.0	73.0	75.0		1301	5.0	1.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	434/5636	185894194	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185894194C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1301C>T	1.37:g.185894194C>T	ENSP00000271588:p.Thr434Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.T434M	p.T434M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			9	1530	+			434			Ig-like C2-type 1.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1301C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214292	0.58452	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.15;-0.16	5.89	4.99	0.66335	Immunoglobulin-like (1);	0.433013	0.26390	N	0.024656	T	0.57607	0.2065	L	0.46157	1.445	0.29890	N	0.825309	P	0.48998	0.918	P	0.45276	0.475	T	0.59568	-0.7430	10	0.39692	T	0.17	.	11.2529	0.49037	0.0:0.8042:0.1276:0.0683	.	434	Q96RW7	HMCN1_HUMAN	M	434	ENSP00000271588:T434M;ENSP00000356462:T434M	ENSP00000271588:T434M	T	+	2	0	HMCN1	184160817	0.949000	0.32298	0.997000	0.53966	0.991000	0.79684	0.663000	0.25053	1.506000	0.48736	0.655000	0.94253	ACG		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	9	0	0	0	1	0	13	9				
CEBPG	1054	broad.mit.edu	37	19	33870419	33870419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33870419C>T	ENST00000284000.4	+	2	936	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	CEBPG_ENST00000585933.2_Nonsense_Mutation_p.Q92*	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	92	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				B cell differentiation (GO:0030183)|enucleate erythrocyte differentiation (GO:0043353)|immune response (GO:0006955)|liver development (GO:0001889)|mRNA metabolic process (GO:0016071)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA repair (GO:0045739)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AGACACACTGCAGAGAGTCAA	0.438																																						ENST00000284000.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7						c.(274-276)Cag>Tag		CCAAT/enhancer binding protein (C/EBP), gamma							98.0	86.0	90.0					19																	33870419		2203	4300	6503	SO:0001587	stop_gained	1054				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:33870419C>T	U20240	CCDS12432.1	19q13.2	2013-01-10				ENSG00000153879		"""basic leucine zipper proteins"""	1837	protein-coding gene	gene with protein product		138972				1884998	Standard	NM_001806		Approved	GPE1BP, IG/EBP-1	uc021usd.1	P53567		ENST00000284000.4:c.274C>T	19.37:g.33870419C>T	ENSP00000284000:p.Gln92*						p.Q92*	NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN			2	936	+	Esophageal squamous(110;0.137)		92					B2R946|Q5U052	Nonsense_Mutation	SNP	ENST00000284000.4	37	c.274C>T	CCDS12432.1	.	.	.	.	.	.	.	.	.	.	C	37	6.428537	0.97559	.	.	ENSG00000153879	ENST00000284000	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-17.4765	19.3504	0.94381	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000284000:Q92X	Q	+	1	0	CEBPG	38562259	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.711000	0.84669	2.885000	0.99019	0.655000	0.94253	CAG		0.438	CEBPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451427.2	NM_001806		9	13	0	0	0	1	0	9	13				
COL6A3	1293	broad.mit.edu	37	2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	rs371441617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.R1798H(1)	large_intestine(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5392-5394)cGc>cAc		collagen, type VI, alpha 3							97.0	89.0	92.0					2																	238275437		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275437C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5393G>A	2.37:g.238275437C>T	ENSP00000295550:p.Arg1798His					COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H	p.R1798H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5845	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1798			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5393G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597341	0.28445	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.51	3.69	0.42338	von Willebrand factor, type A (3);	0.000000	0.48286	D	0.000191	D	0.86351	0.5912	N	0.26130	0.795	0.43088	D	0.994755	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.97110	1.0;0.999;0.845	T	0.83021	-0.0167	10	0.23302	T	0.38	.	14.8057	0.69952	0.263:0.737:0.0:0.0	.	1191;1592;1798	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1798;1597;1592;1191;1592;1598	ENSP00000295550:R1798H;ENSP00000315609:R1597H;ENSP00000315873:R1592H;ENSP00000418285:R1191H;ENSP00000386844:R1592H;ENSP00000295546:R1598H	ENSP00000295550:R1798H	R	-	2	0	COL6A3	237940176	1.000000	0.71417	0.506000	0.27664	0.147000	0.21601	4.669000	0.61575	0.663000	0.31027	0.650000	0.86243	CGC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	67	0	0	0	1	0	9	67				
ATP2B3	492	broad.mit.edu	37	X	152815021	152815021	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152815021G>T	ENST00000349466.2	+	10	1731	c.1405G>T	c.(1405-1407)Gcc>Tcc	p.A469S	ATP2B3_ENST00000359149.3_Missense_Mutation_p.A469S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A455S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A469S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A455S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.A455S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	469					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACGCCACAGCCATCTGCTC	0.592																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1363-1365)Gcc>Tcc		ATPase, Ca++ transporting, plasma membrane 3							185.0	143.0	157.0					X																	152815021		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815021G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1405G>T	X.37:g.152815021G>T	ENSP00000343886:p.Ala469Ser					ATP2B3_ENST00000370181.2_Missense_Mutation_p.A455S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A469S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A455S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A469S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A469S	p.A455S			Q16720	AT2B3_HUMAN			9	1689	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		469					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1363G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431920	0.62844	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	4.83	4.83	0.62350	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93229	0.7843	L	0.31752	0.955	0.58432	D	0.999997	B;B	0.21821	0.061;0.049	B;B	0.26310	0.068;0.04	D	0.90819	0.4707	10	0.44086	T	0.13	-30.0095	15.8646	0.79055	0.0:0.0:1.0:0.0	.	469;469	Q16720;Q16720-2	AT2B3_HUMAN;.	S	455;469;455;469;469;455	ENSP00000359205:A455S;ENSP00000343886:A469S;ENSP00000377425:A455S;ENSP00000352062:A469S;ENSP00000263519:A469S;ENSP00000359200:A455S	ENSP00000263519:A469S	A	+	1	0	ATP2B3	152468215	1.000000	0.71417	0.980000	0.43619	0.912000	0.54170	7.971000	0.88012	1.991000	0.58162	0.525000	0.51046	GCC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		18	7	1	0	1.99824e-07	1	2.09433e-07	18	7				
KCNU1	157855	broad.mit.edu	37	8	36768621	36768621	+	Silent	SNP	G	G	A	rs377444778		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36768621G>A	ENST00000399881.3	+	22	2542	c.2505G>A	c.(2503-2505)ccG>ccA	p.P835P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	835					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTCTGACCCGTCACCCTCAG	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.0					ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2503-2505)ccG>ccA		potassium channel, subfamily U, member 1		G		3,3983		0,3,1990	65.0	65.0	65.0		2505	-1.0	0.0	8		65	0,8378		0,0,4189	no	coding-synonymous	KCNU1	NM_001031836.2		0,3,6179	AA,AG,GG		0.0,0.0753,0.0243		835/1150	36768621	3,12361	1993	4189	6182	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768621G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2505G>A	8.37:g.36768621G>A							p.P835P	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2542	+			835						Silent	SNP	ENST00000399881.3	37	c.2505G>A	CCDS55220.1																																																																																				0.463	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	8	0	0	0	1	0	4	8				
HOMEZ	57594	broad.mit.edu	37	14	23745398	23745398	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23745398T>G	ENST00000357460.5	-	2	1203	c.1039A>C	c.(1039-1041)Aca>Cca	p.T347P	HOMEZ_ENST00000561013.1_Missense_Mutation_p.T349P|HOMEZ_ENST00000431326.2_Missense_Mutation_p.T349P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGTACTCTGTGGGGCCAACT	0.522																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(1039-1041)Aca>Cca		homeobox and leucine zipper encoding							165.0	165.0	165.0					14																	23745398		1975	4143	6118	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745398T>G	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1039A>C	14.37:g.23745398T>G	ENSP00000350049:p.Thr347Pro					HOMEZ_ENST00000431326.2_Missense_Mutation_p.T349P|HOMEZ_ENST00000561013.1_Missense_Mutation_p.T349P	p.T347P	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1203	-	all_cancers(95;5.54e-06)		347					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1039A>C	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	T	2.734	-0.263840	0.05754	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.79	5.87	0.856	0.19019	.	0.644234	0.13093	N	0.414382	T	0.11965	0.0291	N	0.19112	0.55	0.09310	N	1	P;B	0.37864	0.61;0.337	B;B	0.35413	0.202;0.1	T	0.21348	-1.0248	10	0.18276	T	0.48	-1.5572	4.0219	0.09670	0.2809:0.4755:0.0:0.2436	.	349;347	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	P	347;349	ENSP00000350049:T347P;ENSP00000406579:T349P	ENSP00000350049:T347P	T	-	1	0	HOMEZ	22815238	0.830000	0.29337	0.002000	0.10522	0.155000	0.21991	0.143000	0.16115	-0.061000	0.13110	-0.408000	0.06270	ACA		0.522	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		4	87	0	0	0	1	0	4	87				
MYH15	22989	broad.mit.edu	37	3	108175705	108175705	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108175705T>C	ENST00000273353.3	-	20	2162	c.2106A>G	c.(2104-2106)ctA>ctG	p.L702L	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	702	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAACTGCTGTAGAACCAAGT	0.413																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2104-2106)ctA>ctG		myosin, heavy chain 15							134.0	123.0	126.0					3																	108175705		1841	4083	5924	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175705T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2106A>G	3.37:g.108175705T>C						MYH15_ENST00000495753.2_5'UTR	p.L702L	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			20	2162	-			702			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.2106A>G	CCDS43127.1																																																																																				0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		39	63	0	0	0	1	0	39	63				
SLX4	84464	broad.mit.edu	37	16	3656526	3656526	+	Missense_Mutation	SNP	G	G	A	rs199912910	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3656526G>A	ENST00000294008.3	-	3	1349	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	237	Interaction with SLX4IP, ERCC4 and MSH2.		R -> Q (in dbSNP:rs138615800). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTTCTTCCCGCGCAGCCTCG	0.512								Direct reversal of damage					G|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.002		0.0	False		,,,				2504	0.001					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(709-711)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							228.0	224.0	225.0					16																	3656526		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3656526G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.709C>T	16.37:g.3656526G>A	ENSP00000294008:p.Arg237Trp						p.R237W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			3	1349	-			237			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.709C>T	CCDS10506.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.34	1.610408	0.28712	.	.	ENSG00000188827	ENST00000294008	T	0.01126	5.3	5.16	-3.39	0.04868	.	2.253860	0.01848	N	0.035730	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	P	0.36616	0.561	B	0.19148	0.024	T	0.44590	-0.9318	10	0.59425	D	0.04	.	2.7089	0.05169	0.214:0.4239:0.2131:0.149	.	237	Q8IY92	SLX4_HUMAN	W	237	ENSP00000294008:R237W	ENSP00000294008:R237W	R	-	1	2	SLX4	3596527	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.870000	0.04228	-0.341000	0.08376	-0.345000	0.07892	CGG		0.512	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	171	0	0	0	1	0	25	171				
PPARGC1B	133522	broad.mit.edu	37	5	149212311	149212311	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149212311C>T	ENST00000309241.5	+	5	707	c.675C>T	c.(673-675)tgC>tgT	p.C225C	PPARGC1B_ENST00000360453.4_Silent_p.C186C|PPARGC1B_ENST00000403750.1_Silent_p.C161C|PPARGC1B_ENST00000394320.3_Silent_p.C225C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	225					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGGCACAGTGCTGCCTGCAGG	0.622																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(673-675)tgC>tgT		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							110.0	104.0	106.0					5																	149212311		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212311C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.675C>T	5.37:g.149212311C>T						PPARGC1B_ENST00000403750.1_Silent_p.C161C|PPARGC1B_ENST00000360453.4_Silent_p.C186C|PPARGC1B_ENST00000394320.3_Silent_p.C225C	p.C225C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	707	+			225					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.675C>T	CCDS4298.1																																																																																				0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		30	41	0	0	0	1	0	30	41				
NIN	51199	broad.mit.edu	37	14	51239164	51239164	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51239164C>T	ENST00000382041.3	-	9	1026	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NIN_ENST00000324330.9_Missense_Mutation_p.R279H|NIN_ENST00000245441.5_Missense_Mutation_p.R279H|NIN_ENST00000530997.2_Missense_Mutation_p.R279H|NIN_ENST00000382043.4_Missense_Mutation_p.R279H|NIN_ENST00000389868.3_Missense_Mutation_p.R279H|NIN_ENST00000453196.1_Missense_Mutation_p.R279H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	279					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGTTGTGGTACGTCGTCCACT	0.502			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(835-837)cGt>cAt		ninein (GSK3B interacting protein)							103.0	81.0	88.0					14																	51239164		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239164C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.836G>A	14.37:g.51239164C>T	ENSP00000371472:p.Arg279His					NIN_ENST00000530997.2_Missense_Mutation_p.R279H|NIN_ENST00000453196.1_Missense_Mutation_p.R279H|NIN_ENST00000389868.3_Missense_Mutation_p.R279H|NIN_ENST00000382041.3_Missense_Mutation_p.R279H|NIN_ENST00000382043.4_Missense_Mutation_p.R279H|NIN_ENST00000324330.9_Missense_Mutation_p.R279H	p.R279H	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			9	1026	-	all_epithelial(31;0.00244)|Breast(41;0.127)		279					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.836G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816944	0.90790	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.65	5.65	0.86999	EF-hand-like domain (1);	0.093316	0.64402	D	0.000001	T	0.44540	0.1298	L	0.39397	1.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.997;0.996	T	0.12142	-1.0559	10	0.42905	T	0.14	-11.13	18.7058	0.91637	0.0:1.0:0.0:0.0	.	285;279;279;279;279	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	H	279;279;279;279;285;279;279;279;241	ENSP00000245441:R279H;ENSP00000374518:R279H;ENSP00000371474:R279H;ENSP00000371472:R279H;ENSP00000324210:R279H;ENSP00000412391:R279H;ENSP00000398641:R241H	ENSP00000245441:R279H	R	-	2	0	NIN	50308914	1.000000	0.71417	0.867000	0.34043	0.663000	0.39108	7.437000	0.80417	2.670000	0.90874	0.563000	0.77884	CGT		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		19	15	0	0	0	1	0	19	15				
NUP85	79902	broad.mit.edu	37	17	73208112	73208112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73208112C>T	ENST00000245544.4	+	4	387	c.316C>T	c.(316-318)Cga>Tga	p.R106*	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Nonsense_Mutation_p.R106*|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Nonsense_Mutation_p.R60*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	106					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TAAAAACTACCGATCAGTCAT	0.448																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(316-318)Cga>Tga		nucleoporin 85kDa							136.0	112.0	120.0					17																	73208112		2203	4300	6503	SO:0001587	stop_gained	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73208112C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.316C>T	17.37:g.73208112C>T	ENSP00000245544:p.Arg106*					NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Nonsense_Mutation_p.R60*|NUP85_ENST00000579298.1_Nonsense_Mutation_p.R106*|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000449421.2_3'UTR	p.R106*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		4	387	+	all_lung(278;0.14)|Lung NSC(278;0.168)		106					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Nonsense_Mutation	SNP	ENST00000245544.4	37	c.316C>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.840129	0.97009	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8954	18.7185	0.91685	0.0:1.0:0.0:0.0	.	.	.	.	X	106;60;60	.	ENSP00000245544:R106X	R	+	1	2	NUP85	70719707	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.164000	0.50770	2.513000	0.84729	0.591000	0.81541	CGA		0.448	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		7	19	0	0	0	1	0	7	19				
GNE	10020	broad.mit.edu	37	9	36246342	36246342	+	Missense_Mutation	SNP	C	C	T	rs144727134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36246342C>T	ENST00000539815.1	-	2	342	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GNE_ENST00000543356.2_Missense_Mutation_p.R96H|GNE_ENST00000396594.3_Missense_Mutation_p.R132H|GNE_ENST00000377902.5_Missense_Mutation_p.R101H|GNE_ENST00000447283.2_Missense_Mutation_p.R101H|GNE_ENST00000539208.1_Missense_Mutation_p.R42H			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	101					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AGGCTTCAGGCGATTAAGGAC	0.502																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(394-396)cGc>cAc		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	66.0	69.0		395,302,125,287,302	5.6	1.0	9	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	GNE	NM_001128227.2,NM_001190383.1,NM_001190384.1,NM_001190388.1,NM_005476.5	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	132/754,101/649,42/613,96/718,101/723	36246342	1,13005	2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36246342C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.302G>A	9.37:g.36246342C>T	ENSP00000439155:p.Arg101His					GNE_ENST00000539208.1_Missense_Mutation_p.R42H|GNE_ENST00000447283.2_Missense_Mutation_p.R101H|GNE_ENST00000539815.1_Missense_Mutation_p.R101H|GNE_ENST00000543356.2_Missense_Mutation_p.R96H|GNE_ENST00000377902.5_Missense_Mutation_p.R101H	p.R132H	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	506	-			101		H -> Q (in NM).			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.395G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928961	0.92389	2.27E-4	0.0	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.999	P;D;P;D;D	0.68943	0.906;0.934;0.861;0.961;0.943	D	0.99486	1.0949	10	0.59425	D	0.04	-13.2369	17.0847	0.86608	0.0:1.0:0.0:0.0	.	42;60;132;101;101	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	H	101;132;96;101;73;42;101	ENSP00000367134:R101H;ENSP00000379839:R132H;ENSP00000439155:R101H;ENSP00000445117:R42H;ENSP00000414760:R101H	ENSP00000340770:R96H	R	-	2	0	GNE	36236342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.143000	0.77348	2.627000	0.88993	0.467000	0.42956	CGC		0.502	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		20	30	0	0	0	1	0	20	30				
ZNF408	79797	broad.mit.edu	37	11	46724280	46724280	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46724280C>T	ENST00000311764.2	+	3	587	c.357C>T	c.(355-357)gaC>gaT	p.D119D	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CATGGGGAGACGTGTGTGCCT	0.473																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(355-357)gaC>gaT		zinc finger protein 408							259.0	248.0	252.0					11																	46724280		2201	4299	6500	SO:0001819	synonymous_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46724280C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.357C>T	11.37:g.46724280C>T							p.D119D	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			3	587	+			119						Silent	SNP	ENST00000311764.2	37	c.357C>T	CCDS7923.1																																																																																				0.473	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		35	64	0	0	0	1	0	35	64				
MVB12B	89853	broad.mit.edu	37	9	129148856	129148856	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129148856G>A	ENST00000361171.3	+	4	409	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	MVB12B_ENST00000545391.1_Missense_Mutation_p.V110M|MVB12B_ENST00000436593.3_Missense_Mutation_p.V95M|MVB12B_ENST00000535766.1_Missense_Mutation_p.V103M	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	110	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										TCTGGGGAACGTGTTAGTAGA	0.443																																						ENST00000361171.3																			0											c.(328-330)Gtg>Atg		multivesicular body subunit 12B							114.0	90.0	98.0					9																	129148856		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129148856G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.328G>A	9.37:g.129148856G>A	ENSP00000354772:p.Val110Met					MVB12B_ENST00000535766.1_Missense_Mutation_p.V103M|MVB12B_ENST00000436593.3_Missense_Mutation_p.V95M|MVB12B_ENST00000545391.1_Missense_Mutation_p.V110M	p.V110M	NM_033446.2	NP_258257.1					4	409	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.328G>A	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549116	0.86127	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.29	5.29	0.74685	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85199	0.1014	10	0.87932	D	0	24.7789	18.9439	0.92613	0.0:0.0:1.0:0.0	.	103;95;110	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	M	110;110;95;95;103	ENSP00000354772:V110M;ENSP00000441988:V110M;ENSP00000384751:V95M;ENSP00000401379:V95M;ENSP00000442846:V103M	ENSP00000354772:V110M	V	+	1	0	FAM125B	128188677	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.544000	0.82117	2.474000	0.83562	0.650000	0.86243	GTG		0.443	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		8	20	0	0	0	1	0	8	20				
VPS52	6293	broad.mit.edu	37	6	33236315	33236315	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33236315G>A	ENST00000445902.2	-	7	878	c.660C>T	c.(658-660)tgC>tgT	p.C220C	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.C95C|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	220					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGACATCTGCGCAGGCTGCTG	0.597																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(658-660)tgC>tgT		vacuolar protein sorting 52 homolog (S. cerevisiae)							89.0	78.0	82.0					6																	33236315		1509	2708	4217	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236315G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.660C>T	6.37:g.33236315G>A						VPS52_ENST00000436044.2_Silent_p.C95C|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.C220C	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			7	878	-			220					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.660C>T	CCDS4770.2																																																																																				0.597	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		24	29	0	0	0	1	0	24	29				
KLHL10	317719	broad.mit.edu	37	17	39998228	39998228	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39998228A>G	ENST00000293303.4	+	2	501	c.348A>G	c.(346-348)gcA>gcG	p.A116A	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	116					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTGCTGCTGCAGACCAGTTTA	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(346-348)gcA>gcG		kelch-like family member 10							126.0	118.0	120.0					17																	39998228		2007	4173	6180	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39998228A>G	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.348A>G	17.37:g.39998228A>G						KLHL10_ENST00000485613.1_3'UTR	p.A116A	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			2	501	+		Breast(137;0.000162)	116					Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.348A>G	CCDS42340.1																																																																																				0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		17	68	0	0	0	1	0	17	68				
NLRC5	84166	broad.mit.edu	37	16	57092918	57092918	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57092918C>A	ENST00000262510.6	+	29	4090	c.3865C>A	c.(3865-3867)Ctg>Atg	p.L1289M	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1260M|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1260M|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1289M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1289					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAAAGTGCCCTGTACCTGCT	0.587																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3865-3867)Ctg>Atg		NLR family, CARD domain containing 5							261.0	236.0	244.0					16																	57092918		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092918C>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3865C>A	16.37:g.57092918C>A	ENSP00000262510:p.Leu1289Met					NLRC5_ENST00000262510.6_Missense_Mutation_p.L1289M|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1260M|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1260M	p.L1289M			Q86WI3	NLRC5_HUMAN			29	4090	+		all_neural(199;0.225)	1289					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3865C>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.321|2.321	-0.355564|-0.355564	0.05138|0.05138	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805;ENST00000399221	T;T;T;T;T|.	0.54479|.	0.57;5.39;0.57;5.39;0.57|.	4.64|4.64	2.57|2.57	0.30868|0.30868	.|.	.|.	.|.	.|.	.|.	T|T	0.43722|0.43722	0.1260|0.1260	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	P;P;B;B|.	0.47253|.	0.892;0.849;0.158;0.082|.	P;P;B;B|.	0.47430|.	0.547;0.542;0.074;0.054|.	T|T	0.32025|0.32025	-0.9922|-0.9922	9|5	0.46703|.	T|.	0.11|.	.|.	5.788|5.788	0.18345|0.18345	0.1895:0.7091:0.0:0.1013|0.1895:0.7091:0.0:0.1013	.|.	973;1260;1289;1289|.	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	M|H	1289;1260;1289;732;1260;765|1040;40	ENSP00000262510:L1289M;ENSP00000308886:L1260M;ENSP00000389739:L1289M;ENSP00000441727:L1260M;ENSP00000441597:L765M|.	ENSP00000262510:L1289M|.	L|P	+|+	1|2	2|0	NLRC5|NLRC5	55650419|55650419	0.005000|0.005000	0.15991|0.15991	0.233000|0.233000	0.24025|0.24025	0.041000|0.041000	0.13682|0.13682	0.064000|0.064000	0.14437|0.14437	1.177000|1.177000	0.42855|0.42855	0.544000|0.544000	0.68410|0.68410	CTG|CCT		0.587	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		56	92	1	0	2.69953e-25	1	3.01344e-25	56	92				
TRIM71	131405	broad.mit.edu	37	3	32932570	32932570	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32932570G>A	ENST00000383763.5	+	4	1937	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	625					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCGCCGACCGCAGCAACAAC	0.652																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1873-1875)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							28.0	33.0	31.0					3																	32932570		2144	4249	6393	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932570G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1874G>A	3.37:g.32932570G>A	ENSP00000373272:p.Arg625His						p.R625H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	1937	+			625						Missense_Mutation	SNP	ENST00000383763.5	37	c.1874G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437747	0.83885	.	.	ENSG00000206557	ENST00000383763	T	0.73047	-0.71	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82786	-0.0285	10	0.37606	T	0.19	-41.8803	18.6812	0.91547	0.0:0.0:1.0:0.0	.	625	Q2Q1W2	LIN41_HUMAN	H	625	ENSP00000373272:R625H	ENSP00000373272:R625H	R	+	2	0	TRIM71	32907574	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.767000	0.95098	0.650000	0.86243	CGC		0.652	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		10	9	0	0	0	1	0	10	9				
FAM83C	128876	broad.mit.edu	37	20	33875362	33875362	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33875362G>T	ENST00000374408.3	-	4	1316	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	407										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATAGAGCCCAGGAGGGGAGCC	0.627																																						ENST00000374408.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1219-1221)cCt>cAt		family with sequence similarity 83, member C							98.0	78.0	85.0					20																	33875362		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875362G>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1220C>A	20.37:g.33875362G>T	ENSP00000363529:p.Pro407His						p.P407H	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1316	-			407					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1220C>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	5.752	0.323229	0.10900	.	.	ENSG00000125998	ENST00000374408	T	0.06768	3.26	5.05	0.338	0.15974	.	0.929306	0.08920	N	0.874600	T	0.08313	0.0207	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43589	-0.9382	10	0.62326	D	0.03	-14.4273	0.9538	0.01382	0.2806:0.1569:0.4013:0.1612	.	407	Q9BQN1	FA83C_HUMAN	H	407	ENSP00000363529:P407H	ENSP00000363529:P407H	P	-	2	0	FAM83C	33338776	0.003000	0.15002	0.034000	0.17996	0.382000	0.30200	0.890000	0.28295	0.209000	0.20645	0.561000	0.74099	CCT		0.627	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			11	9	1	0	3.86212e-05	1	3.97146e-05	11	9				
PCLO	27445	broad.mit.edu	37	7	82584469	82584469	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82584469C>T	ENST00000333891.9	-	5	6137	c.5800G>A	c.(5800-5802)Gca>Aca	p.A1934T	PCLO_ENST00000423517.2_Missense_Mutation_p.A1934T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTTCATTTGCAGCTGGAAAA	0.358																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5800-5802)Gca>Aca		piccolo presynaptic cytomatrix protein							59.0	57.0	57.0					7																	82584469		1856	4084	5940	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584469C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5800G>A	7.37:g.82584469C>T	ENSP00000334319:p.Ala1934Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.A1934T	p.A1934T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6137	-			1865						Missense_Mutation	SNP	ENST00000333891.9	37	c.5800G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409132	0.11812	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.36	4.86	2.97	0.34412	.	.	.	.	.	T	0.12305	0.0299	L	0.34521	1.04	0.42293	D	0.992145	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.08411	-1.0723	9	0.87932	D	0	.	5.9686	0.19338	0.2035:0.6013:0.1181:0.0771	.	1934;1934	Q9Y6V0-5;Q9Y6V0-6	.;.	T	1865;1934;1934	ENSP00000334319:A1934T;ENSP00000388393:A1934T	ENSP00000334319:A1934T	A	-	1	0	PCLO	82422405	0.000000	0.05858	1.000000	0.80357	0.853000	0.48598	-1.504000	0.02275	1.275000	0.44379	0.655000	0.94253	GCA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	27	0	0	0	1	0	6	27				
VWA8	23078	broad.mit.edu	37	13	42273290	42273290	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42273290C>T	ENST00000379310.3	-	29	3549	c.3481G>A	c.(3481-3483)Gcc>Acc	p.A1161T		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1161						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACGCCATTGGCTGTTCTTGGG	0.473																																						ENST00000379310.3																			0											c.(3481-3483)Gcc>Acc		von Willebrand factor A domain containing 8							97.0	98.0	97.0					13																	42273290		1900	4111	6011	SO:0001583	missense	23078							g.chr13:42273290C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3481G>A	13.37:g.42273290C>T	ENSP00000368612:p.Ala1161Thr						p.A1161T	NM_015058.1	NP_055873.1					29	3549	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3481G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	c	2.221	-0.378341	0.05000	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09817	2.94	5.66	0.561	0.17285	.	0.412532	0.26824	N	0.022310	T	0.07818	0.0196	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30179	-0.9987	10	0.14252	T	0.57	.	6.5555	0.22458	0.2193:0.5946:0.0:0.1862	.	1161	A3KMH1	K0564_HUMAN	T	1065;1161	ENSP00000368612:A1161T	ENSP00000251030:A1065T	A	-	1	0	KIAA0564	41171290	0.741000	0.28217	0.145000	0.22337	0.054000	0.15201	1.149000	0.31626	0.116000	0.18110	-0.958000	0.02645	GCC		0.473	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		32	44	0	0	0	1	0	32	44				
GPR116	221395	broad.mit.edu	37	6	46851338	46851338	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46851338G>T	ENST00000283296.7	-	6	858	c.570C>A	c.(568-570)tcC>tcA	p.S190S	GPR116_ENST00000362015.4_Silent_p.S190S|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Silent_p.S190S|GPR116_ENST00000265417.7_Silent_p.S190S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	190	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGGGCGGAGGAAGTGTTCA	0.423																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(568-570)tcC>tcA		G protein-coupled receptor 116							103.0	94.0	97.0					6																	46851338		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46851338G>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.570C>A	6.37:g.46851338G>T						GPR116_ENST00000265417.7_Silent_p.S190S|GPR116_ENST00000456426.2_Silent_p.S190S|GPR116_ENST00000362015.4_Silent_p.S190S	p.S190S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		6	858	-			190			SEA.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.570C>A	CCDS4919.1																																																																																				0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		11	29	1	0	0.000673444	1	0.000685014	11	29				
SPAG5	10615	broad.mit.edu	37	17	26904749	26904749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26904749C>A	ENST00000321765.5	-	24	3882	c.3550G>T	c.(3550-3552)Gaa>Taa	p.E1184*	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1184					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCCTGTAGTTCTTTGCATCCC	0.512																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3550-3552)Gaa>Taa		sperm associated antigen 5							69.0	69.0	69.0					17																	26904749		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26904749C>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3550G>T	17.37:g.26904749C>A	ENSP00000323300:p.Glu1184*						p.E1184*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			24	3882	-	Lung NSC(42;0.00431)		1184					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.3550G>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	43	10.244783	0.99367	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.98	4.0	0.46444	.	0.219986	0.37955	N	0.001867	.	.	.	.	.	.	0.31632	N	0.648865	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.1387	8.8829	0.35384	0.0:0.831:0.0:0.169	.	.	.	.	X	1184	.	ENSP00000323300:E1184X	E	-	1	0	SPAG5	23928876	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.374000	0.34283	0.864000	0.35578	0.651000	0.88453	GAA		0.512	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		28	34	1	0	1.30897e-18	1	1.44543e-18	28	34				
BAGE2	85319	broad.mit.edu	37	21	11058296	11058296	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:11058296C>T	ENST00000470054.1	-	0	351							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGATAGTGGCTCCAAAGTGC	0.408																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							132.0	98.0	109.0					21																	11058296		692	1591	2283			85319							g.chr21:11058296C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058296C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	351	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	190	0	0	0	1	0	11	190				
SELO	83642	broad.mit.edu	37	22	50649339	50649339	+	Splice_Site	SNP	C	C	T	rs369786492	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50649339C>T	ENST00000380903.2	+	5	1408	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		450													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGCATCTGACCGGTGAGTGAC	0.602											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	3	0.000599042	0.0023	0.0	5008	,	,		18283	0.0		0.0	False		,,,				2504	0.0					ENST00000380903.2																			0											c.e5+1				C		1,4263		0,1,2131	80.0	93.0	89.0		1350	-11.0	0.7	22		89	0,8452		0,0,4226	no	coding-synonymous-near-splice	SELO	NM_031454.1		0,1,6357	TT,TC,CC		0.0,0.0235,0.0079		450/670	50649339	1,12715	2132	4226	6358	SO:0001630	splice_region_variant	0							g.chr22:50649339C>T																												ENST00000380903.2:c.1351+1C>T	22.37:g.50649339C>T			OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.T450_splice	NM_031454.1	NP_113642.1					5	1408	+								Q2TAL2|Q5JZ81|Q8WUI0	Splice_Site	SNP	ENST00000380903.2	37	c.1351_splice	CCDS43034.1																																																																																				0.602	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2		Silent	42	65	0	0	0	1	0	42	65				
COBLL1	22837	broad.mit.edu	37	2	165548758	165548758	+	Silent	SNP	C	C	T	rs143772614	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165548758C>T	ENST00000392717.2	-	14	3505	c.3501G>A	c.(3499-3501)tcG>tcA	p.S1167S	COBLL1_ENST00000194871.6_Silent_p.S1196S|COBLL1_ENST00000409184.3_Silent_p.S1129S|COBLL1_ENST00000342193.4_Silent_p.S1129S|COBLL1_ENST00000375458.2_Silent_p.S1091S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1167	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGCCTCTCCCGAACGGATTG	0.428																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(3271-3273)tcG>tcA		cordon-bleu WH2 repeat protein-like 1		C		0,4406		0,0,2203	82.0	78.0	80.0		3387	-2.6	1.0	2	dbSNP_134	80	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	COBLL1	NM_014900.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		1129/1167	165548758	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165548758C>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3501G>A	2.37:g.165548758C>T						COBLL1_ENST00000194871.6_Silent_p.S1196S|COBLL1_ENST00000392717.2_Silent_p.S1167S|COBLL1_ENST00000409184.3_Silent_p.S1129S|COBLL1_ENST00000342193.4_Silent_p.S1129S	p.S1091S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			12	3494	-			1167					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.3273G>A																																																																																					0.428	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		5	43	0	0	0	1	0	5	43				
PLEKHG3	26030	broad.mit.edu	37	14	65205538	65205538	+	Missense_Mutation	SNP	C	C	T	rs375116826		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65205538C>T	ENST00000394691.1	+	15	1630	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R28C|PLEKHG3_ENST00000484731.2_5'UTR|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R439C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	495							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TACTGAGAAGCGCATGAGCTT	0.567																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(1315-1317)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3		C	CYS/ARG	0,4406		0,0,2203	61.0	49.0	53.0		1315	2.4	1.0	14		53	1,8597		0,1,4298	no	missense	PLEKHG3	NM_015549.1	180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	439/1164	65205538	1,13003	2203	4299	6502	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65205538C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1483C>T	14.37:g.65205538C>T	ENSP00000378183:p.Arg495Cys					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R495C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R28C|PLEKHG3_ENST00000484731.2_5'UTR	p.R439C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	13	1623	+			495					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.189940	0.38707	0.0	1.16E-4	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182	T;T;T	0.30981	1.51;1.51;1.51	5.3	2.36	0.29203	.	0.525519	0.19141	N	0.121698	T	0.18467	0.0443	L	0.34521	1.04	0.80722	D	1	B;B;B	0.24368	0.054;0.102;0.08	B;B;B	0.14578	0.011;0.01;0.011	T	0.06789	-1.0807	10	0.39692	T	0.17	.	4.1593	0.10275	0.4447:0.375:0.0:0.1804	.	28;495;439	A1L390-2;A1L390;A1L390-3	.;PKHG3_HUMAN;.	C	439;495;28	ENSP00000247226:R439C;ENSP00000378183:R495C;ENSP00000450945:R28C	ENSP00000247226:R439C	R	+	1	0	PLEKHG3	64275291	0.065000	0.20965	1.000000	0.80357	0.998000	0.95712	-0.063000	0.11655	0.563000	0.29222	0.561000	0.74099	CGC		0.567	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		5	5	0	0	0	1	0	5	5				
TGFBRAP1	9392	broad.mit.edu	37	2	105924480	105924480	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105924480C>T	ENST00000393359.2	-	2	705	c.279G>A	c.(277-279)gtG>gtA	p.V93V	TGFBRAP1_ENST00000258449.1_Silent_p.V93V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	93	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGTCACACAGCACCAGCAGCC	0.602																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(277-279)gtG>gtA		transforming growth factor, beta receptor associated protein 1							40.0	39.0	39.0					2																	105924480		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924480C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.279G>A	2.37:g.105924480C>T						TGFBRAP1_ENST00000258449.1_Silent_p.V93V	p.V93V			Q8WUH2	TGFA1_HUMAN			2	705	-			93			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.279G>A	CCDS2067.1																																																																																				0.602	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		7	38	0	0	0	1	0	7	38				
MYO18A	399687	broad.mit.edu	37	17	27420010	27420010	+	Missense_Mutation	SNP	G	G	A	rs200860055	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27420010G>A	ENST00000527372.1	-	33	5116	c.4936C>T	c.(4936-4938)Cgg>Tgg	p.R1646W	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1609W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1646W|TIAF1_ENST00000408971.2_5'Flank|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1646W|MYO18A_ENST00000529578.1_5'Flank	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1646					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCAAAGTCCCGCCGGTTCACC	0.612													g|||	2	0.000399361	0.0008	0.0	5008	,	,		18848	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4936-4938)Cgg>Tgg		myosin XVIIIA			TRP/ARG,TRP/ARG	0,4122		0,0,2061	32.0	40.0	37.0		4936,4936	2.4	1.0	17		37	1,8383		0,1,4191	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	101,101	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1646/2055,1646/2040	27420010	1,12505	2061	4192	6253	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27420010G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4936C>T	17.37:g.27420010G>A	ENSP00000437073:p.Arg1646Trp					MYO18A_ENST00000354329.4_Missense_Mutation_p.R1646W|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1609W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1646W	p.R1646W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		33	5116	-			1646					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4936C>T	CCDS45642.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	18.03	3.533539	0.64972	0.0	1.19E-4	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.89875	-1.15;-2.58;-1.15;-1.15	4.57	2.38	0.29361	Myosin tail (1);	0.232471	0.42548	D	0.000696	D	0.93051	0.7788	M	0.74647	2.275	0.37060	D	0.898019	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;D	0.68765	0.9;0.9;0.9;0.96	D	0.94723	0.7902	10	0.62326	D	0.03	.	13.9616	0.64182	0.0:0.0:0.5827:0.4173	.	1249;1609;1646;1646	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	W	1646;1609;1609;1646;1646;542;542;1249	ENSP00000346291:R1646W;ENSP00000435932:R1609W;ENSP00000434228:R1646W;ENSP00000437073:R1646W	ENSP00000346291:R1646W	R	-	1	2	MYO18A	24444136	0.952000	0.32445	1.000000	0.80357	0.991000	0.79684	0.177000	0.16801	1.071000	0.40834	0.461000	0.40582	CGG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		19	19	0	0	0	1	0	19	19				
STRC	161497	broad.mit.edu	37	15	43910131	43910131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43910131C>T	ENST00000450892.2	-	2	565	c.488G>A	c.(487-489)cGt>cAt	p.R163H	STRC_ENST00000541030.1_De_novo_Start_OutOfFrame	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	163					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGGCCCATCACGGGTGCATGG	0.652																																						ENST00000541030.1																			0				skin(4)	4								stereocilin																																				SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43910131C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.488G>A	15.37:g.43910131C>T	ENSP00000401513:p.Arg163His					STRC_ENST00000450892.2_Missense_Mutation_p.R163H				Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	0	563	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)							Translation_Start_Site	SNP	ENST00000450892.2	37		CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580594	0.65992	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	T	0.78246	-1.16	5.05	4.14	0.48551	.	0.094319	0.45361	D	0.000364	T	0.78162	0.4240	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.78160	-0.2312	10	0.54805	T	0.06	-8.3957	9.3322	0.38030	0.0:0.9009:0.0:0.0991	.	163;163	E9PBT5;Q7RTU9	.;STRC_HUMAN	H	163;163;163;103	ENSP00000401513:R163H	ENSP00000299992:R163H	R	-	2	0	STRC	41697423	0.994000	0.37717	0.979000	0.43373	0.746000	0.42486	2.066000	0.41452	1.138000	0.42230	0.632000	0.83419	CGT		0.652	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		5	71	0	0	0	1	0	5	71				
PAPOLB	56903	broad.mit.edu	37	7	4901260	4901260	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4901260C>T	ENST00000404991.1	-	1	365	c.179G>A	c.(178-180)cGc>cAc	p.R60H	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	60					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAAAATCCTGCGCTGCAGTTC	0.473																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(178-180)cGc>cAc		poly(A) polymerase beta (testis specific)							36.0	35.0	36.0					7																	4901260		1906	4152	6058	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901260C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.179G>A	7.37:g.4901260C>T	ENSP00000384700:p.Arg60His					RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.R60H	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	365	-		Ovarian(82;0.0175)	60					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.179G>A		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.715214	0.00706	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	2.33	0.28932	.	.	.	.	.	T	0.15609	0.0376	N	0.02181	-0.65	0.39232	D	0.96369	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	8	0.02654	T	1	.	6.6633	0.23027	0.0:0.7863:0.0:0.2137	.	61	A4D1Z6	.	H	60	.	ENSP00000384700:R60H	R	-	2	0	PAPOLB	4867786	1.000000	0.71417	0.989000	0.46669	0.575000	0.36095	3.032000	0.49736	0.709000	0.31976	-0.136000	0.14681	CGC		0.473	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		8	25	0	0	0	1	0	8	25				
MAPKAP1	79109	broad.mit.edu	37	9	128230310	128230310	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:128230310G>A	ENST00000373498.1	-	9	1354	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.P237L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.P393L|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.P429L|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.P142L|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.P382L|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.P237L			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	429					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GATTGAGATGGGTTTCTGCTT	0.458																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1285-1287)cCc>cTc		mitogen-activated protein kinase associated protein 1							212.0	201.0	205.0					9																	128230310		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128230310G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1286C>T	9.37:g.128230310G>A	ENSP00000362597:p.Pro429Leu					MAPKAP1_ENST00000373498.1_Missense_Mutation_p.P429L|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.P382L|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.P237L|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.P142L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.P393L|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.P237L	p.P429L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			10	1618	-			429					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.1286C>T	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785850	0.90282	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.65975	2.015	0.80722	D	1	P;D;D;D	0.76494	0.711;0.998;0.999;0.984	P;D;D;P	0.71414	0.451;0.944;0.973;0.906	T	0.78018	-0.2368	9	0.59425	D	0.04	-8.5772	20.6593	0.99626	0.0:0.0:1.0:0.0	.	142;382;393;429	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	L	382;393;237;429;429;237;142;201	.	ENSP00000265960:P429L	P	-	2	0	MAPKAP1	127270131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCC		0.458	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			26	39	0	0	0	1	0	26	39				
XAB2	56949	broad.mit.edu	37	19	7687517	7687517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:7687517C>T	ENST00000358368.4	-	11	1439	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	XAB2_ENST00000534844.1_Missense_Mutation_p.E465K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	468					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCAAAGTACTCGGCCCGGCGG	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1402-1404)Gag>Aag	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							36.0	37.0	37.0					19																	7687517		2203	4299	6502	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687517C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1402G>A	19.37:g.7687517C>T	ENSP00000351137:p.Glu468Lys					XAB2_ENST00000534844.1_Missense_Mutation_p.E465K	p.E468K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			11	1439	-			468					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1402G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137679	0.37728	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03441	3.93;3.93	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	L	0.31207	0.915	0.80722	D	1	B	0.22683	0.073	B	0.11329	0.006	T	0.36915	-0.9728	10	0.07325	T	0.83	-32.6766	15.4833	0.75545	0.0:1.0:0.0:0.0	.	468	Q9HCS7	SYF1_HUMAN	K	468;465	ENSP00000351137:E468K;ENSP00000438225:E465K	ENSP00000351137:E468K	E	-	1	0	XAB2	7593517	1.000000	0.71417	0.999000	0.59377	0.437000	0.31866	7.331000	0.79192	2.176000	0.68965	0.561000	0.74099	GAG		0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		15	28	0	0	0	1	0	15	28				
ARAP3	64411	broad.mit.edu	37	5	141052155	141052155	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141052155C>T	ENST00000239440.4	-	9	1414	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.R372Q|ARAP3_ENST00000513878.1_Missense_Mutation_p.R112Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	450	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTCAAAGCTTCGACTCTTGGT	0.637																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1348-1350)cGa>cAa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							44.0	43.0	43.0					5																	141052155		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052155C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1349G>A	5.37:g.141052155C>T	ENSP00000239440:p.Arg450Gln					ARAP3_ENST00000508305.1_Missense_Mutation_p.R372Q|ARAP3_ENST00000513878.1_Missense_Mutation_p.R112Q	p.R450Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			9	1414	-			450			PH 2.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1349G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423338	0.43020	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.16073	2.37;3.06;2.94;2.84	4.25	3.39	0.38822	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.190818	0.37577	N	0.002031	T	0.22666	0.0547	L	0.41824	1.3	0.25297	N	0.98932	P;D;D	0.71674	0.791;0.998;0.996	B;P;P	0.59115	0.195;0.852;0.644	T	0.05835	-1.0861	10	0.22706	T	0.39	.	8.6086	0.33789	0.0:0.8191:0.0:0.1809	.	112;372;450	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	369;372;450;112;450	ENSP00000421826:R372Q;ENSP00000239440:R450Q;ENSP00000421468:R112Q;ENSP00000421148:R450Q	ENSP00000239440:R450Q	R	-	2	0	ARAP3	141032339	0.989000	0.36119	1.000000	0.80357	0.776000	0.43924	1.939000	0.40213	0.997000	0.38969	-0.448000	0.05591	CGA		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		10	13	0	0	0	1	0	10	13				
RNF213	57674	broad.mit.edu	37	17	78341603	78341603	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78341603G>A	ENST00000582970.1	+	43	12070	c.11927G>A	c.(11926-11928)cGc>cAc	p.R3976H	RNF213_ENST00000508628.2_Missense_Mutation_p.R4025H|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2049H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3976					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCGTGATGCGCACTCTCTGT	0.547																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11926-11928)cGc>cAc		ring finger protein 213							84.0	78.0	80.0					17																	78341603		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78341603G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11927G>A	17.37:g.78341603G>A	ENSP00000464087:p.Arg3976His					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2049H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4025H	p.R3976H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		43	12070	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11927G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	9.629	1.135791	0.21123	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24538	1.85	5.08	-0.703	0.11261	.	1.761980	0.02354	N	0.076264	T	0.12732	0.0309	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.21552	-1.0242	10	0.42905	T	0.14	.	5.2415	0.15473	0.5536:0.2603:0.1126:0.0735	.	4025;2049	C9JCP4;Q63HN8	.;RN213_HUMAN	H	3976;4025;2049	ENSP00000338218:R2049H	ENSP00000338218:R2049H	R	+	2	0	RNF213	75956198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.832000	0.04400	-0.351000	0.08249	-1.990000	0.00449	CGC		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	35	0	0	0	1	0	4	35				
DNAJC3	5611	broad.mit.edu	37	13	96443194	96443194	+	Silent	SNP	C	C	T	rs3087338	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:96443194C>T	ENST00000602402.1	+	12	1542	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	DNAJC3_ENST00000376795.6_Silent_p.G424G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	475					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GAGGCGGCGGCAACCCTTTCC	0.438																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1423-1425)ggC>ggT		DnaJ (Hsp40) homolog, subfamily C, member 3							99.0	105.0	103.0					13																	96443194		2203	4300	6503	SO:0001819	synonymous_variant	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96443194C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1425C>T	13.37:g.96443194C>T						DNAJC3_ENST00000376795.6_Silent_p.G424G	p.G475G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		12	1542	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		475					Q86WT9|Q8N4N2	Silent	SNP	ENST00000602402.1	37	c.1425C>T	CCDS9479.1																																																																																				0.438	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			34	15	0	0	0	1	0	34	15				
ACKR1	2532	broad.mit.edu	37	1	159175630	159175630	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159175630G>A	ENST00000368122.2	+	2	1080	c.401G>A	c.(400-402)tGt>tAt	p.C134Y	DARC_ENST00000368121.2_Missense_Mutation_p.C136Y|DARC_ENST00000537147.1_Missense_Mutation_p.C134Y|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		134					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGGGCTACTGTGTCTGGTAT	0.647																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(400-402)tGt>tAt		Duffy blood group, atypical chemokine receptor							60.0	47.0	52.0					1																	159175630		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175630G>A																												ENST00000368122.2:c.401G>A	1.37:g.159175630G>A	ENSP00000357104:p.Cys134Tyr					DARC_ENST00000368122.2_Missense_Mutation_p.C134Y|DARC_ENST00000368121.2_Missense_Mutation_p.C136Y	p.C134Y			Q16570	DUFFY_HUMAN			3	1244	+	all_hematologic(112;0.0429)		134					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.401G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.162572	0.01673	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000435307;ENST00000368121	T;T;T;T	0.34072	1.38;1.38;1.98;1.38	5.23	2.15	0.27550	.	1.202960	0.06726	U	0.775838	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	P;P	0.35944	0.529;0.529	B;B	0.32980	0.156;0.156	T	0.30327	-0.9982	10	0.52906	T	0.07	-0.1866	2.8868	0.05663	0.1022:0.1353:0.5216:0.2409	.	136;134	Q5Y7A1;Q16570	.;DUFFY_HUMAN	Y	134;134;134;136;136	ENSP00000357104:C134Y;ENSP00000441985:C134Y;ENSP00000398406:C136Y;ENSP00000357103:C136Y	ENSP00000352341:C134Y	C	+	2	0	DARC	157442254	0.001000	0.12720	0.221000	0.23827	0.840000	0.47671	0.496000	0.22499	0.210000	0.20664	-0.258000	0.10820	TGT		0.647	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			8	15	0	0	0	1	0	8	15				
KDELC1	79070	broad.mit.edu	37	13	103443702	103443702	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:103443702G>T	ENST00000376004.4	-	5	1087	c.751C>A	c.(751-753)Cat>Aat	p.H251N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	251						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGATCGGATGGATGTTTGAA	0.443																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(751-753)Cat>Aat		KDEL (Lys-Asp-Glu-Leu) containing 1							244.0	257.0	253.0					13																	103443702		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443702G>T	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.751C>A	13.37:g.103443702G>T	ENSP00000365172:p.His251Asn					KDELC1_ENST00000460338.1_5'UTR	p.H251N	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1087	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		251					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.751C>A	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051557	0.36181	.	.	ENSG00000134901	ENST00000376004	T	0.21361	2.01	5.87	5.02	0.67125	.	0.197889	0.53938	D	0.000048	T	0.21387	0.0515	L	0.51422	1.61	0.43103	D	0.994797	B	0.27316	0.175	B	0.24701	0.055	T	0.02743	-1.1116	10	0.27785	T	0.31	.	14.7142	0.69254	0.0687:0.0:0.9313:0.0	.	251	Q6UW63	KDEL1_HUMAN	N	251	ENSP00000365172:H251N	ENSP00000365172:H251N	H	-	1	0	KDELC1	102241703	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.524000	0.73791	1.499000	0.48617	0.650000	0.86243	CAT		0.443	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			26	211	1	0	3.73808e-20	1	4.14251e-20	26	211				
SLU7	10569	broad.mit.edu	37	5	159834777	159834777	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:159834777T>C	ENST00000297151.4	-	10	1348	c.961A>G	c.(961-963)Acc>Gcc	p.T321A		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	321					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGAAATGGTATCTCCTGTG	0.333																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(961-963)Acc>Gcc		SLU7 splicing factor homolog (S. cerevisiae)							108.0	104.0	105.0					5																	159834777		2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159834777T>C	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.961A>G	5.37:g.159834777T>C	ENSP00000297151:p.Thr321Ala						p.T321A	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1348	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	321					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.961A>G	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980775	0.74474	.	.	ENSG00000164609	ENST00000297151	T	0.35973	1.28	6.17	6.17	0.99709	Pre-mRNA splicing Prp18-interacting factor (1);	0.042690	0.85682	N	0.000000	T	0.43344	0.1243	N	0.16233	0.39	0.80722	D	1	D	0.65815	0.995	D	0.64237	0.923	T	0.37220	-0.9715	10	0.40728	T	0.16	-10.1574	16.8222	0.85835	0.0:0.0:0.0:1.0	.	321	O95391	SLU7_HUMAN	A	321	ENSP00000297151:T321A	ENSP00000297151:T321A	T	-	1	0	SLU7	159767355	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.621000	0.83083	2.371000	0.80710	0.533000	0.62120	ACC		0.333	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		6	134	0	0	0	1	0	6	134				
ZBTB7C	201501	broad.mit.edu	37	18	45567115	45567115	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:45567115C>T	ENST00000588982.1	-	3	865	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.V122M			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	122							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCAGGCACACGTTCACGATG	0.587																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(364-366)Gtg>Atg		zinc finger and BTB domain containing 7C							132.0	95.0	108.0					18																	45567115		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567115C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.364G>A	18.37:g.45567115C>T	ENSP00000468782:p.Val122Met					ZBTB7C_ENST00000586438.1_Missense_Mutation_p.V122M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.V122M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.V122M	p.V122M			A1YPR0	ZBT7C_HUMAN			3	865	-			122					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.364G>A	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305682	0.81247	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	L	0.56396	1.775	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.981;0.981	T	0.81805	-0.0764	10	0.72032	D	0.01	.	19.0131	0.92882	0.0:1.0:0.0:0.0	.	122;122;122	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	M	122	ENSP00000439781:V122M;ENSP00000328732:V122M	ENSP00000328732:V122M	V	-	1	0	ZBTB7C	43821113	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.491000	0.84063	0.561000	0.74099	GTG		0.587	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		4	23	0	0	0	1	0	4	23				
AP1B1	162	broad.mit.edu	37	22	29735056	29735056	+	Missense_Mutation	SNP	C	C	T	rs145640648		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29735056C>T	ENST00000405198.1	-	15	2117	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S|AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000357586.2_Missense_Mutation_p.G696S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	696	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGCCACTGCCGATGGGTGCT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19266	0.0		0.001	False		,,,				2504	0.0					ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2086-2088)Ggc>Agc		adaptor-related protein complex 1, beta 1 subunit		C	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	130.0	125.0	127.0		2086,2065,2065	3.8	0.9	22	dbSNP_134	127	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	56,56,56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign,benign,benign	696/950,689/920,689/940	29735056	5,13001	2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29735056C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2086G>A	22.37:g.29735056C>T	ENSP00000384194:p.Gly696Ser					AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S|AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000405198.1_Missense_Mutation_p.G696S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S	p.G696S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			16	2272	-			696			Pro-rich (stalk region).		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2086G>A	CCDS13855.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.156	0.584658	0.13749	0.0	5.81E-4	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.24538	1.92;1.85;1.85;1.92;1.92;1.85;1.85	5.84	3.76	0.43208	.	0.129990	0.64402	N	0.000001	T	0.11495	0.0280	N	0.08118	0	0.58432	D	0.999991	B;B;B;B;B	0.12013	0.0;0.001;0.0;0.0;0.005	B;B;B;B;B	0.13407	0.0;0.002;0.0;0.0;0.009	T	0.09552	-1.0669	10	0.07325	T	0.83	-27.9536	11.5386	0.50653	0.0:0.8528:0.0:0.1472	.	249;689;689;696;689	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	S	696;689;689;696;689;689;689	ENSP00000350199:G696S;ENSP00000348297:G689S;ENSP00000400065:G689S;ENSP00000384194:G696S;ENSP00000319361:G689S;ENSP00000386071:G689S;ENSP00000387612:G689S	ENSP00000319361:G689S	G	-	1	0	AP1B1	28065056	0.879000	0.30193	0.929000	0.37066	0.892000	0.51952	1.653000	0.37323	0.795000	0.33922	-0.140000	0.14226	GGC		0.567	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		44	48	0	0	0	1	0	44	48				
CDH9	1007	broad.mit.edu	37	5	26881665	26881665	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:26881665G>A	ENST00000231021.4	-	12	2122	c.1950C>T	c.(1948-1950)gaC>gaT	p.D650D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	650					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCCGGACATCGTCTTTTGAAA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1948-1950)gaC>gaT		cadherin 9, type 2 (T1-cadherin)							106.0	110.0	109.0					5																	26881665		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881665G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1950C>T	5.37:g.26881665G>A							p.D650D	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2122	-			650					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1950C>T	CCDS3893.1																																																																																				0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		47	53	0	0	0	1	0	47	53				
ZBED1	9189	broad.mit.edu	37	X	2407908	2407908	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2407908C>T	ENST00000381223.4	-	2	1056	c.853G>A	c.(853-855)Gca>Aca	p.A285T	ZBED1_ENST00000381222.2_Missense_Mutation_p.A285T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A285T|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	285					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGTGCACTGCGACGTCCAGC	0.637																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(853-855)Gca>Aca		zinc finger, BED-type containing 1							117.0	107.0	110.0					X																	2407908		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407908C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.853G>A	X.37:g.2407908C>T	ENSP00000370621:p.Ala285Thr					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A285T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A285T	p.A285T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1056	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	285					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.853G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	c	2.076	-0.411960	0.04799	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.19	1.1	0.20463	Ribonuclease H-like (1);	1.823150	0.04833	N	0.439042	T	0.18467	0.0443	.	.	.	0.09310	N	1	B	0.20261	0.043	B	0.12837	0.008	T	0.20207	-1.0282	8	0.08381	T	0.77	-9.9506	6.73	0.23379	0.1239:0.1923:0.6838:0.0	.	285	O96006	ZBED1_HUMAN	T	285	.	ENSP00000370616:A285T	A	-	1	0	ZBED1	2417908	0.974000	0.33945	0.006000	0.13384	0.009000	0.06853	0.105000	0.15333	-0.282000	0.09128	0.515000	0.50301	GCA		0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		36	68	0	0	0	1	0	36	68				
LAMA5	3911	broad.mit.edu	37	20	60904261	60904261	+	Missense_Mutation	SNP	G	G	A	rs563144177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60904261G>A	ENST00000252999.3	-	33	4234	c.4168C>T	c.(4168-4170)Cgg>Tgg	p.R1390W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1390	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTCCTCCCGGAGGTAGCCA	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16748	0.0		0.0	False		,,,				2504	0.0					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4168-4170)Cgg>Tgg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	66.0	63.0					20																	60904261		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60904261G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4168C>T	20.37:g.60904261G>A	ENSP00000252999:p.Arg1390Trp						p.R1390W	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		33	4234	-	Breast(26;1.57e-08)		1390			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4168C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267478	0.40095	.	.	ENSG00000130702	ENST00000252999	T	0.19532	2.14	4.7	2.66	0.31614	.	0.785271	0.12264	U	0.484426	T	0.18882	0.0453	L	0.47716	1.5	0.19300	N	0.999971	D	0.65815	0.995	B	0.44315	0.446	T	0.16867	-1.0388	10	0.62326	D	0.03	.	3.9881	0.09525	0.0788:0.1421:0.4862:0.293	.	1390	O15230	LAMA5_HUMAN	W	1390	ENSP00000252999:R1390W	ENSP00000252999:R1390W	R	-	1	2	LAMA5	60337656	0.830000	0.29337	0.092000	0.20876	0.794000	0.44872	1.615000	0.36922	0.353000	0.24079	-0.310000	0.09108	CGG		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		22	40	0	0	0	1	0	22	40				
SLC1A4	6509	broad.mit.edu	37	2	65243582	65243582	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65243582C>A	ENST00000234256.3	+	5	1052	c.809C>A	c.(808-810)cCt>cAt	p.P270H	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	270					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AGGTACGTACCTGTGGGCATC	0.507																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(808-810)cCt>cAt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						157.0	135.0	142.0					2																	65243582		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243582C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.809C>A	2.37:g.65243582C>A	ENSP00000234256:p.Pro270His					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	p.P270H	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1052	+			270					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.809C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239600	0.95240	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	D	0.90955	-2.76	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97725	1.0199	10	0.87932	D	0	-37.3515	20.5827	0.99408	0.0:1.0:0.0:0.0	.	270;270	P43007;B2R7N6	SATT_HUMAN;.	H	190;270	ENSP00000234256:P270H	ENSP00000234256:P270H	P	+	2	0	SLC1A4	65097086	0.999000	0.42202	0.995000	0.50966	0.984000	0.73092	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCT		0.507	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		14	45	1	0	4.3838e-07	1	4.58243e-07	14	45				
STARD10	10809	broad.mit.edu	37	11	72470359	72470359	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72470359C>T	ENST00000334805.6	-	3	1194	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.R46H|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000543304.1_Missense_Mutation_p.R92H|STARD10_ENST00000545082.1_Missense_Mutation_p.R63H	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	92	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CCATTTCTTGCGGTACTCAAT	0.527																																						ENST00000334805.6																			0				endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8						c.(274-276)cGc>cAc		StAR-related lipid transfer (START) domain containing 10							150.0	155.0	153.0					11																	72470359		2182	4270	6452	SO:0001583	missense	10809							g.chr11:72470359C>T	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.275G>A	11.37:g.72470359C>T	ENSP00000335247:p.Arg92His					STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Missense_Mutation_p.R46H|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.R63H|STARD10_ENST00000543304.1_Missense_Mutation_p.R92H	p.R92H	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		3	1194	-			92			START.		O60532	Missense_Mutation	SNP	ENST00000334805.6	37	c.275G>A	CCDS41688.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044944	0.93685	.	.	ENSG00000214530	ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000535054	T;T;T;T;T;T;T;T;T;D;T	0.86865	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;-2.18;0.58	5.61	4.69	0.59074	Lipid-binding START (3);START-like domain (1);	0.158692	0.41396	U	0.000894	D	0.93667	0.7977	M	0.92970	3.365	0.43734	D	0.996226	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.975	D	0.93669	0.6988	10	0.66056	D	0.02	-8.17	8.4866	0.33076	0.0:0.7626:0.1535:0.0839	.	46;92	F5GY11;Q9Y365	.;PCTL_HUMAN	H	92;92;46;63;23;92;23;92;92;63;46	ENSP00000438792:R92H;ENSP00000335247:R92H;ENSP00000440016:R46H;ENSP00000443548:R63H;ENSP00000438357:R23H;ENSP00000445657:R92H;ENSP00000442414:R23H;ENSP00000443597:R92H;ENSP00000445886:R92H;ENSP00000441589:R63H;ENSP00000440924:R46H	ENSP00000335247:R92H	R	-	2	0	STARD10	72148007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.653000	0.90120	0.655000	0.94253	CGC		0.527	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1			28	52	0	0	0	1	0	28	52				
FBN2	2201	broad.mit.edu	37	5	127614381	127614381	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127614381C>T	ENST00000508053.1	-	63	8265	c.7291G>A	c.(7291-7293)Gcc>Acc	p.A2431T	FBN2_ENST00000262464.4_Missense_Mutation_p.A2431T			P35556	FBN2_HUMAN	fibrillin 2	2431	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGTACTGGGCAGTTCCAGGA	0.468																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7291-7293)Gcc>Acc		fibrillin 2							111.0	104.0	107.0					5																	127614381		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614381C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7291G>A	5.37:g.127614381C>T	ENSP00000424571:p.Ala2431Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.A2431T	p.A2431T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	63	8265	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2431			TB 9.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7291G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.374826	0.24857	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93366	-3.21;-3.21	5.08	4.21	0.49690	Matrix fibril-associated (3);TGF-beta binding (1);	0.237499	0.29631	N	0.011607	D	0.86401	0.5924	L	0.38838	1.175	0.29427	N	0.860169	B	0.15473	0.013	B	0.17433	0.018	T	0.71869	-0.4462	10	0.16420	T	0.52	.	5.7847	0.18326	0.188:0.6709:0.0:0.1411	.	2431	P35556	FBN2_HUMAN	T	2431	ENSP00000262464:A2431T;ENSP00000424571:A2431T	ENSP00000262464:A2431T	A	-	1	0	FBN2	127642280	0.010000	0.17322	1.000000	0.80357	0.959000	0.62525	-0.039000	0.12124	2.791000	0.96007	0.650000	0.86243	GCC		0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	60	0	0	0	1	0	7	60				
BTN2A2	10385	broad.mit.edu	37	6	26392674	26392674	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26392674C>T	ENST00000356709.4	+	8	1162	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.R235W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R351W|BTN2A2_ENST00000482536.1_Missense_Mutation_p.R141W|BTN2A2_ENST00000469230.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	351	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAGTGTGAGGCGGGGCCCCTA	0.577																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1051-1053)Cgg>Tgg		butyrophilin, subfamily 2, member A2							71.0	72.0	72.0					6																	26392674		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392674C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1051C>T	6.37:g.26392674C>T	ENSP00000349143:p.Arg351Trp					BTN2A2_ENST00000416795.2_Missense_Mutation_p.R351W|BTN2A2_ENST00000352867.2_Missense_Mutation_p.R235W|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.R141W	p.R351W	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1162	+			351			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1051C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.403533	0.25291	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	3.92	0.869	0.19096	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.45361	D	0.000363	T	0.10035	0.0246	L	0.58354	1.805	0.09310	N	1	D;P;P	0.89917	1.0;0.615;0.577	D;B;B	0.73708	0.981;0.227;0.111	T	0.12630	-1.0540	10	0.35671	T	0.21	.	5.8657	0.18773	0.334:0.5681:0.0:0.098	.	141;235;351	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	W	146;351;235;141;351	ENSP00000418965:R146W;ENSP00000349143:R351W;ENSP00000337117:R235W;ENSP00000419451:R141W;ENSP00000399308:R351W	ENSP00000337117:R235W	R	+	1	2	BTN2A2	26500653	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-1.659000	0.01975	-0.065000	0.13021	0.454000	0.30748	CGG		0.577	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			12	42	0	0	0	1	0	12	42				
GPR101	83550	broad.mit.edu	37	X	136113733	136113733	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:136113733C>T	ENST00000298110.1	-	1	100	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGGTTGAGCGGATGATGCC	0.607																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(100-102)cGc>cAc		G protein-coupled receptor 101							97.0	72.0	80.0					X																	136113733		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113733C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.101G>A	X.37:g.136113733C>T	ENSP00000298110:p.Arg34His						p.R34H	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	100	-	Acute lymphoblastic leukemia(192;0.000127)		34					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.101G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801154	0.50315	.	.	ENSG00000165370	ENST00000298110	T	0.37058	1.22	5.09	5.09	0.68999	.	.	.	.	.	T	0.44201	0.1282	L	0.27053	0.805	0.29707	N	0.839708	D	0.76494	0.999	D	0.71184	0.972	T	0.35871	-0.9771	9	0.49607	T	0.09	-14.9789	10.2042	0.43103	0.1981:0.8019:0.0:0.0	.	34	Q96P66	GP101_HUMAN	H	34	ENSP00000298110:R34H	ENSP00000298110:R34H	R	-	2	0	GPR101	135941399	0.294000	0.24380	0.991000	0.47740	0.686000	0.39977	0.902000	0.28459	2.100000	0.63781	0.544000	0.68410	CGC		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			32	7	0	0	0	1	0	32	7				
HAX1	10456	broad.mit.edu	37	1	154245979	154245979	+	Missense_Mutation	SNP	G	G	A	rs151225652		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154245979G>A	ENST00000328703.7	+	2	434	c.221G>A	c.(220-222)cGt>cAt	p.R74H	HAX1_ENST00000457918.2_Missense_Mutation_p.R26H|HAX1_ENST00000483970.2_Missense_Mutation_p.R74H|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	74					cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGGATACGTTTCCACGAT	0.562									Kostmann syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18307	0.0		0.0	False		,,,				2504	0.0					ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(220-222)cGt>cAt		HCLS1 associated protein X-1		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	88.0	91.0		77,221	0.5	0.8	1	dbSNP_134	91	0,8600		0,0,4300	no	missense,missense	HAX1	NM_001018837.1,NM_006118.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	26/232,74/280	154245979	1,13005	2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245979G>A	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.221G>A	1.37:g.154245979G>A	ENSP00000329002:p.Arg74His					HAX1_ENST00000457918.2_Missense_Mutation_p.R26H|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.R74H	p.R74H	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	434	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		74					A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.221G>A	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088437	0.76756	2.27E-4	0.0	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.58	0.503	0.16940	.	0.305368	0.33457	N	0.004884	T	0.16257	0.0391	L	0.49126	1.545	0.80722	D	1	B;B;B	0.25667	0.131;0.035;0.131	B;B;B	0.22880	0.042;0.007;0.026	T	0.05007	-1.0912	10	0.37606	T	0.19	-0.6272	7.5765	0.27939	0.4374:0.0:0.5626:0.0	.	74;26;74	O00165-2;O00165-5;O00165	.;.;HAX1_HUMAN	H	74;26;74;74	ENSP00000329002:R74H;ENSP00000411448:R26H;ENSP00000435088:R74H;ENSP00000394920:R74H	ENSP00000329002:R74H	R	+	2	0	HAX1	152512603	0.990000	0.36364	0.847000	0.33407	0.974000	0.67602	0.850000	0.27737	0.120000	0.18254	-0.150000	0.13652	CGT		0.562	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		15	23	0	0	0	1	0	15	23				
AMER1	139285	broad.mit.edu	37	X	63410418	63410418	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63410418C>T	ENST00000330258.3	-	2	3021	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	917					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCATCAGACTCGAGGTAGCCC	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2749-2751)Gag>Aag		APC membrane recruitment protein 1							50.0	49.0	49.0					X																	63410418		2024	4169	6193	SO:0001583	missense	139285							g.chrX:63410418C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2749G>A	X.37:g.63410418C>T	ENSP00000329117:p.Glu917Lys					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.E917K	NM_152424.3	NP_689637.3					2	3021	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2749G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	4.145	0.025342	0.08054	.	.	ENSG00000184675	ENST00000330258	T	0.41065	1.01	4.79	4.79	0.61399	.	.	.	.	.	T	0.24509	0.0594	N	0.24115	0.695	0.80722	D	1	B	0.23058	0.079	B	0.11329	0.006	T	0.09862	-1.0655	8	.	.	.	-1.8284	6.5483	0.22418	0.0:0.8005:0.0:0.1995	.	917	Q5JTC6	F123B_HUMAN	K	917	ENSP00000329117:E917K	.	E	-	1	0	FAM123B	63327143	0.695000	0.27747	0.861000	0.33841	0.324000	0.28378	1.757000	0.38400	2.385000	0.81259	0.529000	0.55759	GAG		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		11	28	0	0	0	1	0	11	28				
INADL	10207	broad.mit.edu	37	1	62550224	62550224	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:62550224G>A	ENST00000371158.2	+	33	4395	c.4281G>A	c.(4279-4281)acG>acA	p.T1427T	INADL_ENST00000545929.1_Silent_p.T100T|INADL_ENST00000316485.6_Silent_p.T1427T|INADL_ENST00000543708.1_Silent_p.T211T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1427					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACCCCGCAACGTGTCCCATTG	0.512																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4279-4281)acG>acA		InaD-like (Drosophila)							94.0	87.0	89.0					1																	62550224		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550224G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4281G>A	1.37:g.62550224G>A						INADL_ENST00000543708.1_Silent_p.T211T|INADL_ENST00000545929.1_Silent_p.T100T|INADL_ENST00000316485.6_Silent_p.T1427T	p.T1427T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			33	4395	+			1427					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.4281G>A	CCDS617.2																																																																																				0.512	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		33	38	0	0	0	1	0	33	38				
GJC2	57165	broad.mit.edu	37	1	228345790	228345790	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228345790C>T	ENST00000366714.2	+	2	506	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	111					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCAGGAgcggcgccgcgccct	0.766																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(331-333)Cgc>Tgc		gap junction protein, gamma 2, 47kDa							12.0	11.0	11.0					1																	228345790		2179	4255	6434	SO:0001583	missense	57165				cell death	connexon complex|integral to membrane		g.chr1:228345790C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.331C>T	1.37:g.228345790C>T	ENSP00000355675:p.Arg111Cys						p.R111C	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	506	+		Prostate(94;0.0405)	111					O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	ENST00000366714.2	37	c.331C>T	CCDS1569.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357167	0.24598	.	.	ENSG00000198835	ENST00000366714	D	0.98234	-4.81	4.23	2.23	0.28157	.	0.158448	0.31472	N	0.007594	D	0.97377	0.9142	L	0.56769	1.78	0.25078	N	0.990941	D	0.69078	0.997	P	0.55055	0.767	D	0.93367	0.6732	10	0.87932	D	0	.	6.8721	0.24127	0.4797:0.4229:0.0:0.0974	.	111	Q5T442	CXG2_HUMAN	C	111	ENSP00000355675:R111C	ENSP00000355675:R111C	R	+	1	0	GJC2	226412413	.	.	0.035000	0.18076	0.003000	0.03518	.	.	0.346000	0.23899	-0.339000	0.08088	CGC		0.766	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		13	3	0	0	0	1	0	13	3				
EPHA1	2041	broad.mit.edu	37	7	143097138	143097138	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143097138C>T	ENST00000275815.3	-	4	527	c.441G>A	c.(439-441)acG>acA	p.T147T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	147	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCAGCCACCGTGGTTACCT	0.552																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(439-441)acG>acA		EPH receptor A1							28.0	30.0	30.0					7																	143097138		2201	4296	6497	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143097138C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.441G>A	7.37:g.143097138C>T							p.T147T	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	527	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	147					A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.441G>A	CCDS5884.1																																																																																				0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	11	0	0	0	1	0	9	11				
OVCH1	341350	broad.mit.edu	37	12	29630489	29630489	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:29630489G>A	ENST00000318184.5	-	10	1091	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	364	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTTTTCCATCGTCTTCCATGA	0.358																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(1090-1092)gaC>gaT		ovochymase 1							90.0	87.0	88.0					12																	29630489		1863	4097	5960	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630489G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1092C>T	12.37:g.29630489G>A						OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.D364D	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			10	1091	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		364			CUB 1.			Silent	SNP	ENST00000318184.5	37	c.1092C>T																																																																																					0.358	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		7	17	0	0	0	1	0	7	17				
SCN3A	6328	broad.mit.edu	37	2	165984285	165984285	+	Silent	SNP	G	G	A	rs199850080		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165984285G>A	ENST00000360093.3	-	18	3740	c.3249C>T	c.(3247-3249)taC>taT	p.Y1083Y	SCN3A_ENST00000283254.7_Silent_p.Y1083Y|SCN3A_ENST00000409101.3_Silent_p.Y1034Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1083					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATCGATTACGTATTTTTCAA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18107	0.0		0.001	False		,,,				2504	0.0					ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3247-3249)taC>taT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						148.0	132.0	137.0					2																	165984285		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165984285G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3249C>T	2.37:g.165984285G>A						SCN3A_ENST00000409101.3_Silent_p.Y1034Y|SCN3A_ENST00000283254.7_Silent_p.Y1083Y	p.Y1083Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			18	3740	-			1083					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.3249C>T																																																																																					0.378	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		34	35	0	0	0	1	0	34	35				
MX1	4599	broad.mit.edu	37	21	42823102	42823102	+	Missense_Mutation	SNP	C	C	T	rs149908360		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:42823102C>T	ENST00000398600.2	+	17	2466	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	MX1_ENST00000398598.3_Missense_Mutation_p.R481W|MX1_ENST00000288383.6_Missense_Mutation_p.R458W|MX1_ENST00000455164.2_Missense_Mutation_p.R481W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	481	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGATATGGTCCGGCTTGCTTT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13628	0.0		0.0	False		,,,				2504	0.0					ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1441-1443)Cgg>Tgg		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	172.0	192.0	185.0		1441,1441,1441	2.7	0.2	21	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	481/663,481/663,481/663	42823102	1,13005	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42823102C>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1441C>T	21.37:g.42823102C>T	ENSP00000381601:p.Arg481Trp					MX1_ENST00000455164.2_Missense_Mutation_p.R481W|MX1_ENST00000398598.3_Missense_Mutation_p.R481W|MX1_ENST00000288383.6_Missense_Mutation_p.R458W	p.R481W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			17	2466	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	481					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1441C>T	CCDS13673.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.811	0.150771	0.09185	0.0	1.16E-4	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.62	2.72	0.32119	Dynamin central domain (1);	0.386186	0.27654	N	0.018412	T	0.67344	0.2883	M	0.65975	2.015	0.09310	N	0.999997	B	0.25312	0.123	B	0.28139	0.086	T	0.59963	-0.7355	10	0.48119	T	0.1	-16.13	3.8511	0.08955	0.1666:0.5782:0.162:0.0932	.	481	P20591	MX1_HUMAN	W	481;481;481;458	ENSP00000381601:R481W;ENSP00000381599:R481W;ENSP00000410523:R481W;ENSP00000288383:R458W	ENSP00000288383:R458W	R	+	1	2	MX1	41744972	0.298000	0.24417	0.166000	0.22797	0.102000	0.19082	1.132000	0.31418	0.582000	0.29556	0.655000	0.94253	CGG		0.323	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			47	30	0	0	0	1	0	47	30				
LYVE1	10894	broad.mit.edu	37	11	10580686	10580686	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10580686G>A	ENST00000256178.3	-	6	1099	c.941C>T	c.(940-942)aCc>aTc	p.T314I	LYVE1_ENST00000531706.1_5'Flank|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.T210I	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	314					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GCATCGCACGGTAGTTTTGCT	0.463																																						ENST00000256178.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(940-942)aCc>aTc		lymphatic vessel endothelial hyaluronan receptor 1							301.0	277.0	285.0					11																	10580686		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10580686G>A	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.941C>T	11.37:g.10580686G>A	ENSP00000256178:p.Thr314Ile					LYVE1_ENST00000529598.1_Missense_Mutation_p.T210I|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA	p.T314I	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	6	1099	-			314					Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.941C>T	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184228	0.38609	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	T;T	0.39056	2.87;1.1	6.02	6.02	0.97574	.	0.131978	0.52532	D	0.000067	T	0.62708	0.2450	M	0.71581	2.175	0.46849	D	0.999221	D;D	0.63880	0.992;0.993	P;P	0.61800	0.894;0.844	T	0.63849	-0.6544	10	0.87932	D	0	-4.9574	17.4575	0.87611	0.0:0.0:1.0:0.0	.	210;314	F2Z296;Q9Y5Y7	.;LYVE1_HUMAN	I	314;210	ENSP00000256178:T314I;ENSP00000436016:T210I	ENSP00000256178:T314I	T	-	2	0	LYVE1	10537262	0.965000	0.33210	0.954000	0.39281	0.105000	0.19272	3.716000	0.54904	2.865000	0.98341	0.655000	0.94253	ACC		0.463	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		85	91	0	0	0	1	0	85	91				
PEA15	8682	broad.mit.edu	37	1	160182919	160182919	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160182919G>A	ENST00000360472.4	+	3	380	c.192G>A	c.(190-192)gaG>gaA	p.E64E	PEA15_ENST00000368077.1_Silent_p.E42E|PEA15_ENST00000368076.1_Silent_p.E85E|PEA15_ENST00000488858.1_3'UTR	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	64	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTACATTGAGCACATCTTTG	0.537																																						ENST00000368076.1																			0				large_intestine(1)|lung(4)	5						c.(253-255)gaG>gaA		phosphoprotein enriched in astrocytes 15							206.0	179.0	188.0					1																	160182919		2203	4300	6503	SO:0001819	synonymous_variant	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160182919G>A	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.192G>A	1.37:g.160182919G>A						PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Silent_p.E42E|PEA15_ENST00000360472.4_Silent_p.E64E	p.E85E			Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	603	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		64					B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	37	c.255G>A	CCDS1199.1																																																																																				0.537	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		6	66	0	0	0	1	0	6	66				
RHBDD2	57414	broad.mit.edu	37	7	75517369	75517369	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75517369G>T	ENST00000006777.6	+	4	932	c.797G>T	c.(796-798)aGc>aTc	p.S266I	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Missense_Mutation_p.S125I|RHBDD2_ENST00000428119.1_Missense_Mutation_p.S125I	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	266						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CTGTCCCCAAGCCACCCTGTG	0.632																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(373-375)aGc>aTc		rhomboid domain containing 2							74.0	91.0	85.0					7																	75517369		2129	4225	6354	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517369G>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.797G>T	7.37:g.75517369G>T	ENSP00000006777:p.Ser266Ile					RHBDD2_ENST00000006777.6_Missense_Mutation_p.S266I|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.S125I	p.S125I	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			5	1003	+			266					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.374G>T	CCDS43602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.160|3.160	-0.172262|-0.172262	0.06421|0.06421	.|.	.|.	ENSG00000005486|ENSG00000005486	ENST00000413229|ENST00000006777;ENST00000318622;ENST00000428119	.|T	.|0.34472	.|1.36	5.29|5.29	-4.82|-4.82	0.03171|0.03171	.|.	.|1.457470	.|0.03401	.|N	.|0.203378	T|T	0.21427|0.21427	0.0516|0.0516	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23735	.|0.09	.|B	.|0.25759	.|0.063	T|T	0.19128|0.19128	-1.0315|-1.0315	6|10	0.28530|0.30078	T|T	0.3|0.28	-4.3984|-4.3984	8.7288|8.7288	0.34485|0.34485	0.5015:0.2185:0.2801:0.0|0.5015:0.2185:0.2801:0.0	.|.	.|266	.|Q6NTF9	.|RHBD2_HUMAN	N|I	310|266;125;125	.|ENSP00000006777:S266I	ENSP00000407074:K310N|ENSP00000006777:S266I	K|S	+|+	3|2	2|0	RHBDD2|RHBDD2	75355305|75355305	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.169000|0.169000	0.16641|0.16641	-1.092000|-1.092000	0.03062|0.03062	-1.731000|-1.731000	0.00696|0.00696	AAG|AGC		0.632	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		27	45	1	0	1.5548e-18	1	1.71633e-18	27	45				
BRCA1	672	broad.mit.edu	37	17	41226394	41226394	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41226394C>T	ENST00000357654.3	-	14	4747	c.4629G>A	c.(4627-4629)ggG>ggA	p.G1543G	BRCA1_ENST00000493795.1_Silent_p.G1496G|BRCA1_ENST00000468300.1_Silent_p.G439G|BRCA1_ENST00000591534.1_Silent_p.G34G|BRCA1_ENST00000352993.3_Silent_p.G401G|BRCA1_ENST00000351666.3_Silent_p.G360G|BRCA1_ENST00000491747.2_Silent_p.G439G|BRCA1_ENST00000309486.4_Silent_p.G1247G|BRCA1_ENST00000471181.2_Silent_p.G1564G|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1543					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATCGTGTGGCCCAGACTCTT	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(3739-3741)ggG>ggA	Homologous recombination	breast cancer 1, early onset							149.0	156.0	154.0					17																	41226394		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41226394C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4629G>A	17.37:g.41226394C>T		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Silent_p.G1496G|BRCA1_ENST00000491747.2_Silent_p.G439G|BRCA1_ENST00000468300.1_Silent_p.G439G|BRCA1_ENST00000471181.2_Silent_p.G1564G|BRCA1_ENST00000357654.3_Silent_p.G1543G|BRCA1_ENST00000591534.1_Silent_p.G34G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Silent_p.G360G|BRCA1_ENST00000352993.3_Silent_p.G401G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Intron	p.G1247G	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	4768	-		Breast(137;0.000717)	1543					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.3741G>A	CCDS11453.1																																																																																				0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		23	25	0	0	0	1	0	23	25				
CHRNA6	8973	broad.mit.edu	37	8	42614217	42614217	+	Missense_Mutation	SNP	G	G	A	rs201337765		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42614217G>A	ENST00000276410.2	-	3	614	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Intron	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	87					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CATACGTGACGCAGCCACAAA	0.393																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(259-261)Cgt>Tgt		cholinergic receptor, nicotinic, alpha 6 (neuronal)		G	,CYS/ARG	0,4406		0,0,2203	194.0	166.0	176.0		,259	5.7	1.0	8		176	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	CHRNA6	NM_001199279.1,NM_004198.3	,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging	,87/495	42614217	2,13004	2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42614217G>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.259C>T	8.37:g.42614217G>A	ENSP00000276410:p.Arg87Cys					CHRNA6_ENST00000534622.1_Intron|CHRNA6_ENST00000530869.1_5'UTR	p.R87C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	614	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	87					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.259C>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247735	0.80024	0.0	2.33E-4	ENSG00000147434	ENST00000276410;ENST00000533810	T;T	0.80566	-1.39;-1.39	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90681	0.4605	10	0.87932	D	0	.	15.6001	0.76616	0.0:0.0:0.8541:0.1459	.	87	Q15825	ACHA6_HUMAN	C	87;8	ENSP00000276410:R87C;ENSP00000434659:R8C	ENSP00000276410:R87C	R	-	1	0	CHRNA6	42733374	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	2.420000	0.44679	2.712000	0.92718	0.561000	0.74099	CGT		0.393	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			21	53	0	0	0	1	0	21	53				
MRPS2	51116	broad.mit.edu	37	9	138395974	138395974	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138395974C>A	ENST00000371785.1	+	5	1095	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.L296M|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	296					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GAGCCATTCCCTGTGATGTTC	0.637																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(886-888)Ctg>Atg		mitochondrial ribosomal protein S2							19.0	20.0	20.0					9																	138395974		2197	4299	6496	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395974C>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.886C>A	9.37:g.138395974C>A	ENSP00000360850:p.Leu296Met					MRPS2_ENST00000241600.5_Missense_Mutation_p.L296M|RP11-426A6.5_ENST00000415062.1_RNA	p.L296M			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	5	1095	+			296					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.886C>A	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149877	0.37923	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.26660	1.72;1.72	2.89	-1.98E-4	0.14039	.	1.249430	0.06604	N	0.754415	T	0.15176	0.0366	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.38327	0.271	T	0.22452	-1.0216	10	0.59425	D	0.04	.	6.4735	0.22022	0.0:0.625:0.0:0.375	.	296	Q9Y399	RT02_HUMAN	M	296	ENSP00000360850:L296M;ENSP00000241600:L296M	ENSP00000241600:L296M	L	+	1	2	MRPS2	137535795	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.392000	0.07314	0.001000	0.14605	0.467000	0.42956	CTG		0.637	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			3	8	1	0	0.115264	1	0.115739	3	8				
TICRR	90381	broad.mit.edu	37	15	90137697	90137697	+	Silent	SNP	C	C	T	rs369430806		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90137697C>T	ENST00000268138.7	+	6	1698	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.G530G			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	531					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AAACTGAAGGCGAATTAATAC	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		14228	0.0		0.0	False		,,,				2504	0.001					ENST00000268138.7																			0											c.(1591-1593)ggC>ggT		TOPBP1-interacting checkpoint and replication regulator							81.0	74.0	76.0					15																	90137697		1856	4091	5947	SO:0001819	synonymous_variant	90381							g.chr15:90137697C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1593C>T	15.37:g.90137697C>T						TICRR_ENST00000560985.1_Silent_p.G530G	p.G531G							6	1698	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.1593C>T	CCDS10352.2																																																																																				0.393	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		25	23	0	0	0	1	0	25	23				
PAPD5	64282	broad.mit.edu	37	16	50245299	50245299	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50245299G>A	ENST00000561678.1	+	2	532	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	PAPD5_ENST00000436909.3_Missense_Mutation_p.R220Q|PAPD5_ENST00000357464.3_Missense_Mutation_p.R141Q			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GAGAAGATGCGGATGGAGGTG	0.458																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(421-423)cGg>cAg		PAP associated domain containing 5							112.0	115.0	114.0					16																	50245299		2030	4190	6220	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50245299G>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.458G>A	16.37:g.50245299G>A	ENSP00000455837:p.Arg153Gln					PAPD5_ENST00000436909.3_Missense_Mutation_p.R220Q|PAPD5_ENST00000561678.1_Missense_Mutation_p.R153Q	p.R141Q			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	3	422	+		all_cancers(37;0.0452)	141					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.422G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.717000	0.96830	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.64618	-0.11;0.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84048	0.0368	10	0.87932	D	0	.	19.2241	0.93810	0.0:0.0:1.0:0.0	.	220;141	B4DV38;Q8NDF8	.;PAPD5_HUMAN	Q	220;141	ENSP00000396995:R220Q;ENSP00000350054:R141Q	ENSP00000350054:R141Q	R	+	2	0	PAPD5	48802800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.427000	0.97472	2.636000	0.89361	0.591000	0.81541	CGG		0.458	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		11	20	0	0	0	1	0	11	20				
MVK	4598	broad.mit.edu	37	12	110034289	110034289	+	Silent	SNP	C	C	T	rs104895372		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110034289C>T	ENST00000228510.3	+	11	1174	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	MVK_ENST00000539696.1_Silent_p.D85D|MVK_ENST00000541384.1_Silent_p.D172D|MVK_ENST00000392727.3_Silent_p.D314D|MVK_ENST00000539575.1_Silent_p.D314D	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	366					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTGGCTTTGACTGCTTGGAAA	0.647																																						ENST00000228510.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(1096-1098)gaC>gaT		mevalonate kinase							84.0	77.0	80.0					12																	110034289		2203	4300	6503	SO:0001819	synonymous_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110034289C>T	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.1098C>T	12.37:g.110034289C>T						MVK_ENST00000392727.3_Silent_p.D314D|MVK_ENST00000541384.1_Silent_p.D172D|MVK_ENST00000539575.1_Silent_p.D314D|MVK_ENST00000539696.1_Silent_p.D85D	p.D366D	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN			11	1174	+			366						Silent	SNP	ENST00000228510.3	37	c.1098C>T	CCDS9132.1																																																																																				0.647	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1	NM_000431		7	29	0	0	0	1	0	7	29				
WNT7A	7476	broad.mit.edu	37	3	13916637	13916637	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13916637G>A	ENST00000285018.4	-	2	409	c.105C>T	c.(103-105)agC>agT	p.S35S	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	35				S -> T (in Ref. 1; AAC51319). {ECO:0000305}.	asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TACAGATGATGCTTGCGCCCA	0.602																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(103-105)agC>agT		wingless-type MMTV integration site family, member 7A							40.0	41.0	41.0					3																	13916637		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916637G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.105C>T	3.37:g.13916637G>A						WNT7A_ENST00000497808.1_5'UTR	p.S35S	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			2	409	-			35	S -> T (in Ref. 1; AAC51319).				Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.105C>T	CCDS2616.1																																																																																				0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		10	15	0	0	0	1	0	10	15				
ARF1	375	broad.mit.edu	37	1	228285129	228285129	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228285129C>T	ENST00000541182.1	+	3	497	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Missense_Mutation_p.R79C|ARF1_ENST00000272102.5_Missense_Mutation_p.R79C|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCCCCTGTGGCGCCACTACTT	0.607																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(235-237)Cgc>Tgc		ADP-ribosylation factor 1							73.0	73.0	73.0					1																	228285129		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285129C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.235C>T	1.37:g.228285129C>T	ENSP00000440005:p.Arg79Cys					ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.R79C|ARF1_ENST00000272102.5_Missense_Mutation_p.R79C	p.R79C	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			3	497	+		Prostate(94;0.0405)	79					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.235C>T	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834395	0.71373	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	T;T;T	0.67171	-0.25;-0.25;-0.25	5.39	4.47	0.54385	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000010	T	0.76449	0.3989	H	0.96111	3.77	0.80722	D	1	P	0.40578	0.722	B	0.35607	0.206	D	0.84325	0.0518	10	0.87932	D	0	-13.7481	15.5702	0.76330	0.1388:0.8612:0.0:0.0	.	79	P84077	ARF1_HUMAN	C	79	ENSP00000272102:R79C;ENSP00000442980:R79C;ENSP00000440005:R79C	ENSP00000272102:R79C	R	+	1	0	ARF1	226351752	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.588000	0.82629	1.489000	0.48450	0.467000	0.42956	CGC		0.607	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		18	25	0	0	0	1	0	18	25				
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18828568G>A	ENST00000324631.7	+	14	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R578H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1732-1734)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	64.0	66.0					10																	18828568		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828568G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1898G>A	10.37:g.18828568G>A	ENSP00000320025:p.Arg633His					CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H	p.R578H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2234	+			633					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1733G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743626	0.69418	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.85;1.95;-2.07;-1.84;1.95;-1.96;-1.98;-1.96;-1.96	5.7	5.7	0.88788	.	0.402357	0.29900	N	0.010916	D	0.88209	0.6375	L	0.50333	1.59	0.58432	D	0.999999	P;P;D;P;D;P;D;P;D;P;D;D;D	0.89917	0.63;0.924;1.0;0.924;0.987;0.955;0.969;0.746;0.974;0.955;0.993;0.992;0.969	B;P;P;B;P;P;P;B;P;P;P;P;P	0.62560	0.217;0.468;0.904;0.344;0.668;0.669;0.468;0.388;0.55;0.669;0.681;0.822;0.468	D	0.88470	0.3061	10	0.87932	D	0	-14.0587	10.8677	0.46864	0.1137:0.0:0.8863:0.0	.	547;605;383;585;555;579;589;540;581;605;595;609;633	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	633;609;383;605;581;578;540;579;585	ENSP00000320025:R633H;ENSP00000344474:R609H;ENSP00000366545:R383H;ENSP00000282343:R605H;ENSP00000366548:R581H;ENSP00000379821:R578H;ENSP00000366536:R540H;ENSP00000366546:R579H;ENSP00000366532:R585H	ENSP00000282343:R605H	R	+	2	0	CACNB2	18868574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.756000	0.55205	2.703000	0.92315	0.655000	0.94253	CGC		0.527	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		4	57	0	0	0	1	0	4	57				
PARM1	25849	broad.mit.edu	37	4	75937973	75937973	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:75937973G>A	ENST00000307428.7	+	2	594	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	128					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						ACACAGCTCGGGCACTCCTGA	0.577																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(382-384)Ggc>Agc		prostate androgen-regulated mucin-like protein 1							139.0	146.0	144.0					4																	75937973		2126	4233	6359	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937973G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.382G>A	4.37:g.75937973G>A	ENSP00000370224:p.Gly128Ser					PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.G128S	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	594	+			128					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.382G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155125	0.38021	.	.	ENSG00000169116	ENST00000307428	T	0.44083	0.93	5.34	0.518	0.17030	.	1.269630	0.05151	N	0.496109	T	0.29126	0.0724	L	0.29908	0.895	0.09310	N	1	B	0.19331	0.035	B	0.23275	0.045	T	0.19778	-1.0295	10	0.23302	T	0.38	-1.265	4.2355	0.10623	0.3421:0.0:0.5085:0.1493	.	128	Q6UWI2	PARM1_HUMAN	S	128	ENSP00000370224:G128S	ENSP00000370224:G128S	G	+	1	0	PARM1	76156997	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.846000	0.04336	-0.003000	0.14444	-0.309000	0.09137	GGC		0.577	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		23	37	0	0	0	1	0	23	37				
SYT3	84258	broad.mit.edu	37	19	51135606	51135606	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51135606C>A	ENST00000338916.4	-	2	1244	c.611G>T	c.(610-612)aGt>aTt	p.S204I	SYT3_ENST00000600079.1_Missense_Mutation_p.S204I|SYT3_ENST00000544769.1_Missense_Mutation_p.S204I|SYT3_ENST00000593901.1_Missense_Mutation_p.S204I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	204					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCCCCACCACTGGGGGGCAG	0.647																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(610-612)aGt>aTt		synaptotagmin III							43.0	47.0	45.0					19																	51135606		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135606C>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.611G>T	19.37:g.51135606C>A	ENSP00000340914:p.Ser204Ile					SYT3_ENST00000600079.1_Missense_Mutation_p.S204I|SYT3_ENST00000593901.1_Missense_Mutation_p.S204I|SYT3_ENST00000544769.1_Missense_Mutation_p.S204I	p.S204I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1244	-		all_neural(266;0.131)	204					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.611G>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568169	0.45798	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60548	0.18;0.18	5.14	5.14	0.70334	.	0.394979	0.23336	U	0.049292	T	0.32346	0.0826	N	0.08118	0	0.23478	N	0.997596	P	0.38978	0.652	B	0.30316	0.114	T	0.34875	-0.9811	10	0.87932	D	0	.	10.0989	0.42493	0.0:0.9067:0.0:0.0933	.	204	Q9BQG1	SYT3_HUMAN	I	204	ENSP00000340914:S204I;ENSP00000438883:S204I	ENSP00000340914:S204I	S	-	2	0	SYT3	55827418	0.147000	0.22687	0.978000	0.43139	0.996000	0.88848	1.421000	0.34815	2.548000	0.85928	0.655000	0.94253	AGT		0.647	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		25	15	1	0	7.92952e-12	1	8.55149e-12	25	15				
FAM47B	170062	broad.mit.edu	37	X	34961471	34961471	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:34961471G>T	ENST00000329357.5	+	1	559	c.523G>T	c.(523-525)Gta>Tta	p.V175L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	175										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACAACCGAGGTACCCACCGA	0.617																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(523-525)Gta>Tta		family with sequence similarity 47, member B							33.0	33.0	33.0					X																	34961471		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961471G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.523G>T	X.37:g.34961471G>T	ENSP00000328307:p.Val175Leu						p.V175L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	559	+			175					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.523G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059174	0.08339	.	.	ENSG00000189132	ENST00000329357	T	0.14766	2.48	0.843	-0.533	0.11887	.	.	.	.	.	T	0.10594	0.0259	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.33803	-0.9854	9	0.32370	T	0.25	.	6.2664	0.20930	0.0:0.31:0.6899:0.0	.	175	Q8NA70	FA47B_HUMAN	L	175	ENSP00000328307:V175L	ENSP00000328307:V175L	V	+	1	0	FAM47B	34871392	0.274000	0.24191	0.002000	0.10522	0.022000	0.10575	1.545000	0.36169	-0.219000	0.10003	0.292000	0.19580	GTA		0.617	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		9	6	1	0	2.17888e-05	1	2.24846e-05	9	6				
CDC25A	993	broad.mit.edu	37	3	48200534	48200534	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48200534C>T	ENST00000302506.3	-	15	1884	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	CDC25A_ENST00000351231.3_Silent_p.E452E	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	492					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTTTAAAGTCCTCGTGGTGCA	0.552																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1474-1476)gaG>gaA		cell division cycle 25A							75.0	74.0	74.0					3																	48200534		2203	4300	6503	SO:0001819	synonymous_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200534C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1476G>A	3.37:g.48200534C>T						CDC25A_ENST00000351231.3_Silent_p.E452E	p.E492E	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	15	1884	-			492					Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	ENST00000302506.3	37	c.1476G>A	CCDS2760.1																																																																																				0.552	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		13	17	0	0	0	1	0	13	17				
PKHD1	5314	broad.mit.edu	37	6	51720866	51720866	+	Missense_Mutation	SNP	G	G	A	rs78361537	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:51720866G>A	ENST00000371117.3	-	49	8011	c.7736C>T	c.(7735-7737)gCg>gTg	p.A2579V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2579V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2579					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAGTATTCGCTCTAAGGTG	0.353													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0					ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7735-7737)gCg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	VAL/ALA,VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	95.0	103.0	100.0		7736,7736	-2.7	0.0	6	dbSNP_131	100	0,8600		0,0,4300	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	64,64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	2579/4075,2579/3397	51720866	6,13000	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51720866G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7736C>T	6.37:g.51720866G>A	ENSP00000360158:p.Ala2579Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.A2579V	p.A2579V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			49	8011	-	Lung NSC(77;0.0605)		2579					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7736C>T	CCDS4935.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.69	1.713536	0.30413	0.001362	0.0	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.04;-2.23	6.17	-2.69	0.06022	.	1.088580	0.06877	N	0.801770	T	0.58991	0.2161	L	0.45581	1.43	0.09310	N	1	B;P;B	0.41008	0.089;0.735;0.342	B;B;B	0.27887	0.01;0.084;0.028	T	0.55166	-0.8183	10	0.52906	T	0.07	.	1.8017	0.03073	0.4238:0.0922:0.2933:0.1907	.	2579;2579;2579	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2579	ENSP00000360158:A2579V;ENSP00000341097:A2579V	ENSP00000341097:A2579V	A	-	2	0	PKHD1	51828825	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.031000	0.12287	-0.235000	0.09767	0.655000	0.94253	GCG		0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	50	0	0	0	1	0	28	50				
THSD7B	80731	broad.mit.edu	37	2	138330060	138330060	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138330060C>T	ENST00000409968.1	+	17	3535	c.3357C>T	c.(3355-3357)tcC>tcT	p.S1119S	THSD7B_ENST00000272643.3_Silent_p.S1122S|THSD7B_ENST00000413152.2_Silent_p.S1091S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1121	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAACCCAGTCCTGTTCTCTTA	0.463																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3355-3357)tcC>tcT		thrombospondin, type I, domain containing 7B							93.0	97.0	95.0					2																	138330060		1969	4145	6114	SO:0001819	synonymous_variant	80731							g.chr2:138330060C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3357C>T	2.37:g.138330060C>T						THSD7B_ENST00000272643.3_Silent_p.S1122S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.S1091S	p.S1119S						BRCA - Breast invasive adenocarcinoma(221;0.19)	17	3535	+									Silent	SNP	ENST00000409968.1	37	c.3357C>T																																																																																					0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		12	18	0	0	0	1	0	12	18				
PAK6	56924	broad.mit.edu	37	15	40558610	40558610	+	Missense_Mutation	SNP	C	C	T	rs143324236		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40558610C>T	ENST00000542403.2	+	3	883	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R258C|PAK6_ENST00000453867.1_Missense_Mutation_p.R258C|PAK6_ENST00000560346.1_Missense_Mutation_p.R258C|PAK6_ENST00000455577.2_Missense_Mutation_p.R258C|PAK6_ENST00000260404.4_Missense_Mutation_p.R258C|PAK6_ENST00000559901.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	258	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCCTGAAGCGCAGGCTATT	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18520	0.0		0.0	False		,,,				2504	0.0					ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(772-774)Cgc>Tgc		p21 protein (Cdc42/Rac)-activated kinase 6							40.0	40.0	40.0					15																	40558610		2201	4298	6499	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558610C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.772C>T	15.37:g.40558610C>T	ENSP00000439597:p.Arg258Cys					PAK6_ENST00000542403.2_Missense_Mutation_p.R258C|PAK6_ENST00000560346.1_Missense_Mutation_p.R258C|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R258C|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R258C|PAK6_ENST00000453867.1_Missense_Mutation_p.R258C	p.R258C	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1684	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	258			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.772C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258111	0.39896	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74421	-0.8;-0.8;-0.84;-0.8;-0.8	5.48	4.48	0.54585	.	1.262190	0.05126	N	0.491584	T	0.67795	0.2931	N	0.19112	0.55	0.47094	D	0.999318	P;D	0.59767	0.916;0.986	B;B	0.43052	0.23;0.406	T	0.64909	-0.6296	10	0.56958	D	0.05	.	15.3823	0.74669	0.1875:0.8125:0.0:0.0	.	258;258	Q9NQU5;G5E9R2	PAK6_HUMAN;.	C	258	ENSP00000406873:R258C;ENSP00000401153:R258C;ENSP00000409465:R258C;ENSP00000260404:R258C;ENSP00000439597:R258C	ENSP00000260404:R258C	R	+	1	0	PAK6	38345902	0.923000	0.31300	1.000000	0.80357	0.830000	0.47004	1.053000	0.30442	2.590000	0.87494	0.561000	0.74099	CGC		0.652	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			7	13	0	0	0	1	0	7	13				
SIPA1	6494	broad.mit.edu	37	11	65412536	65412536	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65412536C>A	ENST00000394224.3	+	5	1391	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	SIPA1_ENST00000394227.3_Silent_p.T365T|SIPA1_ENST00000527525.1_Silent_p.T365T|SIPA1_ENST00000534313.1_Silent_p.T365T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	365	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGTTTCTCACCTTGCTGGGCG	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1093-1095)acC>acA		signal-induced proliferation-associated 1							127.0	117.0	120.0					11																	65412536		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65412536C>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1095C>A	11.37:g.65412536C>A						SIPA1_ENST00000534313.1_Silent_p.T365T|SIPA1_ENST00000394227.3_Silent_p.T365T|SIPA1_ENST00000527525.1_Silent_p.T365T	p.T365T	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			5	1391	+			365			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1095C>A	CCDS8108.1																																																																																				0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		25	54	1	0	9.90768e-06	1	1.02613e-05	25	54				
OR2W5	441932	broad.mit.edu	37	1	247654839	247654839	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247654839G>A	ENST00000522351.1	+	0	470							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGTCATGCGCCCACATCTC	0.592																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															116.0	86.0	96.0					1																	247654839		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654839G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654839G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	470	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.592	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		23	18	0	0	0	1	0	23	18				
TENM2	57451	broad.mit.edu	37	5	167379716	167379716	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167379716G>A	ENST00000518659.1	+	4	875	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.R88Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R279Q|TENM2_ENST00000519204.1_Missense_Mutation_p.R158Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R112Q|TENM2_ENST00000520393.1_3'UTR	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	279	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCAATCGGCGGAGTCAGATC	0.627																																						ENST00000519204.1																			0											c.(472-474)cGg>cAg		teneurin transmembrane protein 2							77.0	89.0	85.0					5																	167379716		2196	4283	6479	SO:0001583	missense	57451							g.chr5:167379716G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.836G>A	5.37:g.167379716G>A	ENSP00000429430:p.Arg279Gln					CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.R112Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R279Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R88Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R279Q|TENM2_ENST00000520393.1_3'UTR	p.R158Q							3	591	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.473G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.357092	0.82243	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90133	-2.08;-2.07;-2.18;-2.62;-2.55	5.47	5.47	0.80525	Teneurin intracellular, N-terminal (2);	0.130194	0.49916	D	0.000123	D	0.94036	0.8089	L	0.50333	1.59	0.50313	D	0.999861	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.968;0.964;0.986	D	0.93916	0.7201	10	0.54805	T	0.06	.	19.3358	0.94319	0.0:0.0:1.0:0.0	.	279;88;158	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	279;279;158;88;112	ENSP00000429430:R279Q;ENSP00000438635:R279Q;ENSP00000428964:R158Q;ENSP00000427874:R88Q;ENSP00000384905:R112Q	ENSP00000384905:R112Q	R	+	2	0	ODZ2	167312294	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	9.439000	0.97543	2.567000	0.86603	0.563000	0.77884	CGG		0.627	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	7	0	0	0	1	0	3	7				
MED15	51586	broad.mit.edu	37	22	20929464	20929464	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20929464C>T	ENST00000263205.7	+	9	1286	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	406	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTACCACCGCTGTGTCCGCC	0.627																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1216-1218)gCt>gTt		mediator complex subunit 15							105.0	91.0	95.0					22																	20929464		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929464C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1217C>T	22.37:g.20929464C>T	ENSP00000263205:p.Ala406Val					MED15_ENST00000541476.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000406969.1_Intron	p.A406V	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1286	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	406			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1217C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121143	0.56613	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.29	5.29	0.74685	Mediator complex, subunit Med15, metazoa (1);	1.094130	0.06877	N	0.801877	T	0.40272	0.1110	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.18429	-1.0337	9	0.02654	T	1	.	9.9613	0.41697	0.0:0.9072:0.0:0.0928	.	352;406	B4DGD6;Q96RN5	.;MED15_HUMAN	V	406;352	.	ENSP00000263205:A406V	A	+	2	0	MED15	19259464	0.788000	0.28762	0.028000	0.17463	0.885000	0.51271	3.183000	0.50918	2.484000	0.83849	0.591000	0.81541	GCT		0.627	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		4	64	0	0	0	1	0	4	64				
SHISA2	387914	broad.mit.edu	37	13	26620664	26620664	+	Missense_Mutation	SNP	G	G	A	rs376374452		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26620664G>A	ENST00000319420.3	-	2	930	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	292					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TACAGTCACCGCTGGGTACAT	0.557																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(874-876)gCg>gTg		shisa family member 2		G	VAL/ALA	0,4406		0,0,2203	85.0	78.0	80.0		875	4.2	0.2	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHISA2	NM_001007538.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	292/296	26620664	1,13005	2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26620664G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.875C>T	13.37:g.26620664G>A	ENSP00000313079:p.Ala292Val						p.A292V	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	930	-			292					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.875C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408791	0.62399	0.0	1.16E-4	ENSG00000180730	ENST00000319420	T	0.53857	0.6	5.05	4.21	0.49690	.	0.249971	0.35207	N	0.003371	T	0.38931	0.1059	N	0.19112	0.55	0.53005	D	0.999963	B	0.11235	0.004	B	0.08055	0.003	T	0.26677	-1.0096	10	0.62326	D	0.03	-12.3738	13.825	0.63346	0.0742:0.0:0.9258:0.0	.	292	Q6UWI4	SHSA2_HUMAN	V	292	ENSP00000313079:A292V	ENSP00000313079:A292V	A	-	2	0	SHISA2	25518664	1.000000	0.71417	0.246000	0.24233	0.934000	0.57294	6.013000	0.70776	1.355000	0.45865	0.650000	0.86243	GCG		0.557	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		25	28	0	0	0	1	0	25	28				
POGZ	23126	broad.mit.edu	37	1	151380973	151380973	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151380973C>T	ENST00000271715.2	-	14	2460	c.2146G>A	c.(2146-2148)Gca>Aca	p.A716T	POGZ_ENST00000540984.1_Missense_Mutation_p.A78T|POGZ_ENST00000531094.1_Missense_Mutation_p.A654T|POGZ_ENST00000392723.1_Missense_Mutation_p.A663T|POGZ_ENST00000368863.2_Missense_Mutation_p.A621T|POGZ_ENST00000409503.1_Missense_Mutation_p.A707T|POGZ_ENST00000361398.3_Missense_Mutation_p.A663T|POGZ_ENST00000491586.1_Missense_Mutation_p.A672T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	716					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCAGCGGTGCTGCCTCCTGC	0.567																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(2146-2148)Gca>Aca		pogo transposable element with ZNF domain							68.0	69.0	68.0					1																	151380973		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151380973C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2146G>A	1.37:g.151380973C>T	ENSP00000271715:p.Ala716Thr					POGZ_ENST00000368863.2_Missense_Mutation_p.A621T|POGZ_ENST00000361398.3_Missense_Mutation_p.A663T|POGZ_ENST00000392723.1_Missense_Mutation_p.A663T|POGZ_ENST00000409503.1_Missense_Mutation_p.A707T|POGZ_ENST00000540984.1_Missense_Mutation_p.A78T|POGZ_ENST00000491586.1_Missense_Mutation_p.A672T|POGZ_ENST00000531094.1_Missense_Mutation_p.A654T	p.A716T	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		14	2460	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		716					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.2146G>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978199	0.34942	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.30448	5.88;5.92;5.88;5.87;5.9;5.89;1.96;5.38;1.53	5.07	1.98	0.26296	.	0.484383	0.19326	N	0.117008	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.19331	0.02;0.0;0.013;0.001;0.035;0.02	B;B;B;B;B;B	0.17722	0.007;0.0;0.007;0.006;0.019;0.007	T	0.42699	-0.9436	10	0.23302	T	0.38	-0.1365	5.24	0.15467	0.0:0.6373:0.1663:0.1964	.	654;707;621;672;663;716	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	T	663;716;663;621;707;654;78;672;116	ENSP00000376484:A663T;ENSP00000271715:A716T;ENSP00000354467:A663T;ENSP00000357856:A621T;ENSP00000386836:A707T;ENSP00000431259:A654T;ENSP00000443547:A78T;ENSP00000418408:A672T;ENSP00000432295:A116T	ENSP00000271715:A716T	A	-	1	0	POGZ	149647597	0.005000	0.15991	0.257000	0.24404	0.966000	0.64601	-0.114000	0.10757	0.241000	0.21283	-0.150000	0.13652	GCA		0.567	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	72	0	0	0	1	0	7	72				
KIAA0355	9710	broad.mit.edu	37	19	34791438	34791438	+	Silent	SNP	C	C	T	rs558834376	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34791438C>T	ENST00000299505.6	+	2	933	c.60C>T	c.(58-60)ggC>ggT	p.G20G		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	20								p.G20G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCTGCTTGGCGGGTCCAAGC	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		18118	0.0		0.0	False		,,,				2504	0.0031					ENST00000299505.6																			1	Substitution - coding silent(1)	p.G20G(1)	urinary_tract(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(58-60)ggC>ggT		KIAA0355							39.0	35.0	36.0					19																	34791438		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791438C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.60C>T	19.37:g.34791438C>T							p.G20G	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	933	+	Esophageal squamous(110;0.162)		20					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.60C>T	CCDS12436.1																																																																																				0.622	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		19	14	0	0	0	1	0	19	14				
ARHGAP31	57514	broad.mit.edu	37	3	119133271	119133271	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:119133271G>A	ENST00000264245.4	+	12	3027	c.2495G>A	c.(2494-2496)aGc>aAc	p.S832N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	832					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGATCTCTAGCCTCTGTCAG	0.512																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2494-2496)aGc>aAc		Rho GTPase activating protein 31							52.0	54.0	53.0					3																	119133271		1934	4134	6068	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133271G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2495G>A	3.37:g.119133271G>A	ENSP00000264245:p.Ser832Asn						p.S832N	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3027	+			832					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2495G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	7.006	0.555766	0.13436	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07327	3.2	5.01	-1.47	0.08772	.	1.459060	0.03718	N	0.251434	T	0.04363	0.0120	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37731	-0.9693	10	0.21014	T	0.42	.	2.4236	0.04454	0.2057:0.1067:0.4695:0.2181	.	832	Q2M1Z3	RHG31_HUMAN	N	832	ENSP00000264245:S832N	ENSP00000264245:S832N	S	+	2	0	ARHGAP31	120615961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.154000	0.16343	-0.894000	0.03925	-2.067000	0.00394	AGC		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			22	24	0	0	0	1	0	22	24				
FBXW8	26259	broad.mit.edu	37	12	117465865	117465865	+	Missense_Mutation	SNP	C	C	T	rs536148392		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:117465865C>T	ENST00000309909.5	+	11	1767	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	FBXW8_ENST00000455858.2_Missense_Mutation_p.A496V			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	562					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TATGAGTTTGCGGTGGACCAG	0.612																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1486-1488)gCg>gTg		F-box and WD repeat domain containing 8							110.0	82.0	91.0					12																	117465865		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465865C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1685C>T	12.37:g.117465865C>T	ENSP00000310686:p.Ala562Val					FBXW8_ENST00000309909.5_Missense_Mutation_p.A562V	p.A496V	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1560	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		562					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1487C>T	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789550	0.70337	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08370	3.1;3.11	4.93	4.93	0.64822	.	0.119114	0.64402	D	0.000014	T	0.09468	0.0233	L	0.57536	1.79	0.42356	D	0.992395	P;P	0.45044	0.745;0.849	B;B	0.32928	0.155;0.118	T	0.13926	-1.0491	10	0.44086	T	0.13	-12.9131	15.9314	0.79663	0.0:1.0:0.0:0.0	.	562;496	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	V	562;496;496	ENSP00000310686:A562V;ENSP00000389144:A496V	ENSP00000310686:A562V	A	+	2	0	FBXW8	115950248	0.998000	0.40836	0.806000	0.32338	0.661000	0.39034	5.149000	0.64863	2.271000	0.75665	0.591000	0.81541	GCG		0.612	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		14	18	0	0	0	1	0	14	18				
LTBP1	4052	broad.mit.edu	37	2	33588460	33588460	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:33588460C>T	ENST00000404816.2	+	29	4627	c.4274C>T	c.(4273-4275)gCa>gTa	p.A1425V	LTBP1_ENST00000418533.2_Missense_Mutation_p.A1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A1044V|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1426V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A1099V|LTBP1_ENST00000272273.5_Missense_Mutation_p.A323V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A1046V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A1100V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1425	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCGTAGATGCAGATGAATGC	0.363																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4273-4275)gCa>gTa		latent transforming growth factor beta binding protein 1							99.0	92.0	94.0					2																	33588460		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33588460C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4274C>T	2.37:g.33588460C>T	ENSP00000386043:p.Ala1425Val					LTBP1_ENST00000354476.3_Missense_Mutation_p.A1426V|LTBP1_ENST00000272273.5_Missense_Mutation_p.A323V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A1100V|LTBP1_ENST00000418533.2_Missense_Mutation_p.A1057V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A1044V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A1046V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A1099V	p.A1425V			Q14766	LTBP1_HUMAN			29	4627	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1425			EGF-like 15; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4274C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515580	0.85389	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;D;D;D;D;D;D;T	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-2.43;-1.41	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);	.	.	.	.	D	0.89455	0.6720	N	0.00642	-1.3	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.985;1.0;1.0;1.0	P;D;D;D;D;D;D	0.91635	0.893;0.998;0.997;0.918;0.999;0.999;0.999	D	0.85878	0.1420	9	0.02654	T	1	.	19.0478	0.93028	0.0:1.0:0.0:0.0	.	323;1425;1057;1046;1099;1100;1426	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	V	1425;1426;1100;1057;1044;1046;1099;323;261	ENSP00000386043:A1425V;ENSP00000346467:A1426V;ENSP00000374653:A1100V;ENSP00000393057:A1057V;ENSP00000384373:A1044V;ENSP00000385359:A1046V;ENSP00000384091:A1099V;ENSP00000272273:A323V;ENSP00000395211:A261V	ENSP00000272273:A323V	A	+	2	0	LTBP1	33441964	0.996000	0.38824	0.993000	0.49108	0.748000	0.42578	3.249000	0.51437	2.502000	0.84385	0.563000	0.77884	GCA		0.363	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	62	0	0	0	1	0	11	62				
PPP1R3A	5506	broad.mit.edu	37	7	113519788	113519788	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:113519788T>C	ENST00000284601.3	-	4	1427	c.1359A>G	c.(1357-1359)atA>atG	p.I453M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	453					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGGGGCAAGGTATTTGCACTG	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1357-1359)atA>atG		protein phosphatase 1, regulatory subunit 3A							99.0	90.0	93.0					7																	113519788		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519788T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1359A>G	7.37:g.113519788T>C	ENSP00000284601:p.Ile453Met						p.I453M	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1427	-			453					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1359A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	7.729	0.698828	0.15106	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.35973	2.23;1.28	5.4	1.44	0.22558	.	1.097360	0.06912	N	0.807836	T	0.22589	0.0545	N	0.25144	0.715	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.22941	-1.0202	10	0.38643	T	0.18	-1.837	4.4233	0.11492	0.1399:0.2329:0.0:0.6272	.	453	Q16821	PPR3A_HUMAN	M	453;132	ENSP00000284601:I453M;ENSP00000401278:I132M	ENSP00000284601:I453M	I	-	3	3	PPP1R3A	113307024	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.218000	0.17622	0.898000	0.36418	0.459000	0.35465	ATA		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		30	54	0	0	0	1	0	30	54				
TSC2	7249	broad.mit.edu	37	16	2110816	2110816	+	Splice_Site	SNP	T	T	C	rs137854173		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2110816T>C	ENST00000219476.3	+	11	1749		c.e11+2		TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000401874.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTCCAGGTGGGGTGGGGG	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.e11+2		tuberous sclerosis 2							51.0	46.0	48.0					16																	2110816		2198	4300	6498	SO:0001630	splice_region_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2110816T>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1119+2T>C	16.37:g.2110816T>C						TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000401874.2_Splice_Site		NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			11	1749	+		Hepatocellular(780;0.0202)						A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37		CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.540409	0.27563	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.6	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9837	0.41828	0.0:0.0811:0.0:0.9189	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2050817	1.000000	0.71417	0.916000	0.36221	0.627000	0.37826	6.151000	0.71806	0.726000	0.32339	0.459000	0.35465	.		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	9	15	0	0	0	1	0	9	15				
WDR25	79446	broad.mit.edu	37	14	100950458	100950458	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:100950458C>T	ENST00000335290.6	+	4	1324	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	WDR25_ENST00000542471.2_Silent_p.G109G|WDR25_ENST00000402312.3_Silent_p.G366G|WDR25_ENST00000554998.1_Silent_p.G366G	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	366										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TAAGGACTGGCAAGGTAATAG	0.408																																						ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1096-1098)ggC>ggT		WD repeat domain 25							115.0	120.0	119.0					14																	100950458		2203	4300	6503	SO:0001819	synonymous_variant	79446							g.chr14:100950458C>T	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.1098C>T	14.37:g.100950458C>T						WDR25_ENST00000542471.2_Silent_p.G109G|WDR25_ENST00000554998.1_Silent_p.G366G|WDR25_ENST00000402312.3_Silent_p.G366G	p.G366G	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			4	1324	+		Melanoma(154;0.212)	366					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1098C>T	CCDS32157.1																																																																																				0.408	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		53	84	0	0	0	1	0	53	84				
ZNF337	26152	broad.mit.edu	37	20	25657081	25657081	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:25657081C>T	ENST00000376436.1	-	4	1382	c.843G>A	c.(841-843)gtG>gtA	p.V281V	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Silent_p.V249V|ZNF337_ENST00000252979.5_Silent_p.V281V|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TTCTCTCATGCACAGTGAGGT	0.498																																						ENST00000376436.1																			0				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						c.(841-843)gtG>gtA		zinc finger protein 337							180.0	167.0	171.0					20																	25657081		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25657081C>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.843G>A	20.37:g.25657081C>T						RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.V281V|ZNF337_ENST00000538750.1_Silent_p.V249V|RP4-694B14.5_ENST00000455791.1_RNA	p.V281V							4	1382	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.843G>A	CCDS13174.1																																																																																				0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			42	85	0	0	0	1	0	42	85				
BRPF1	7862	broad.mit.edu	37	3	9776113	9776113	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9776113C>T	ENST00000457855.1	+	1	300	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	BRPF1_ENST00000424362.1_Missense_Mutation_p.R97C|BRPF1_ENST00000383829.2_Missense_Mutation_p.R97C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R97C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R97C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	97	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAGGCCCAGCGCATGGTGGA	0.627																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(289-291)Cgc>Tgc		bromodomain and PHD finger containing, 1							127.0	133.0	131.0					3																	9776113		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776113C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.289C>T	3.37:g.9776113C>T	ENSP00000410210:p.Arg97Cys					BRPF1_ENST00000457855.1_Missense_Mutation_p.R97C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R97C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R97C|BRPF1_ENST00000424362.1_Missense_Mutation_p.R97C	p.R97C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	693	+	Medulloblastoma(99;0.227)		97			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.289C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937860	0.52972	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.55930	1.98;1.97;3.36;1.97;0.49;1.97	5.73	5.73	0.89815	.	0.046766	0.85682	D	0.000000	T	0.71995	0.3406	M	0.76838	2.35	0.80722	D	1	D;P;P;D	0.89917	1.0;0.705;0.705;0.999	D;B;B;D	0.72338	0.977;0.118;0.363;0.915	T	0.73310	-0.4023	10	0.52906	T	0.07	.	14.3475	0.66678	0.1483:0.8517:0.0:0.0	.	97;97;97;97	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	97	ENSP00000402485:R97C;ENSP00000398863:R97C;ENSP00000373340:R97C;ENSP00000306297:R97C;ENSP00000404235:R97C;ENSP00000410210:R97C	ENSP00000306297:R97C	R	+	1	0	BRPF1	9751113	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.833000	0.48159	2.709000	0.92574	0.563000	0.77884	CGC		0.627	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		16	30	0	0	0	1	0	16	30				
EYA2	2139	broad.mit.edu	37	20	45801489	45801489	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45801489A>G	ENST00000327619.5	+	12	1546	c.1172A>G	c.(1171-1173)tAc>tGc	p.Y391C	EYA2_ENST00000317304.6_Missense_Mutation_p.Y361C|EYA2_ENST00000357410.3_Missense_Mutation_p.Y391C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	391					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AAGGAGATGTACAATACCTAC	0.602																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1171-1173)tAc>tGc		eyes absent homolog 2 (Drosophila)							85.0	68.0	74.0					20																	45801489		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45801489A>G		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1172A>G	20.37:g.45801489A>G	ENSP00000333640:p.Tyr391Cys					EYA2_ENST00000317304.6_Missense_Mutation_p.Y361C|EYA2_ENST00000357410.3_Missense_Mutation_p.Y391C	p.Y391C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			12	1546	+		Myeloproliferative disorder(115;0.0241)	391					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1172A>G	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548187	0.86022	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82893	-1.66;-1.66;-1.66	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.92806	0.6260	10	0.87932	D	0	-17.1213	15.7516	0.77989	1.0:0.0:0.0:0.0	.	391;361;391;391	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	391;391;361;361	ENSP00000333640:Y391C;ENSP00000349986:Y391C;ENSP00000321590:Y361C	ENSP00000321590:Y361C	Y	+	2	0	EYA2	45234896	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.232000	0.95325	2.127000	0.65507	0.533000	0.62120	TAC		0.602	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		14	21	0	0	0	1	0	14	21				
UNC5B	219699	broad.mit.edu	37	10	73055702	73055702	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73055702G>A	ENST00000335350.6	+	14	2726	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	UNC5B_ENST00000373192.4_Silent_p.L759L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	770	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGAGCAAGCTGCTGGCCAAAT	0.627																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2308-2310)ctG>ctA		unc-5 homolog B (C. elegans)							91.0	77.0	82.0					10																	73055702		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055702G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2310G>A	10.37:g.73055702G>A						UNC5B_ENST00000373192.4_Silent_p.L759L	p.L770L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2726	+			770					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.2310G>A	CCDS7309.1																																																																																				0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		12	18	0	0	0	1	0	12	18				
ATMIN	23300	broad.mit.edu	37	16	81078146	81078146	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81078146C>T	ENST00000299575.4	+	4	2067	c.2043C>T	c.(2041-2043)acC>acT	p.T681T	ATMIN_ENST00000564241.1_Silent_p.T525T|ATMIN_ENST00000566488.1_Silent_p.T525T|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	681					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGCAGATACCTCTGCTCAGT	0.448																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1573-1575)acC>acT		ATM interactor							102.0	110.0	107.0					16																	81078146		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078146C>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2043C>T	16.37:g.81078146C>T						ATMIN_ENST00000299575.4_Silent_p.T681T|ATMIN_ENST00000564241.1_Silent_p.T525T|ATMIN_ENST00000539819.1_3'UTR	p.T525T			O43313	ATMIN_HUMAN			3	2538	+			681	Y -> H (in Ref. 2; CAH18291).				A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.1575C>T	CCDS32494.1																																																																																				0.448	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		30	65	0	0	0	1	0	30	65				
CDC25A	993	broad.mit.edu	37	3	48219456	48219456	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48219456C>T	ENST00000302506.3	-	7	980	c.572G>A	c.(571-573)aGc>aAc	p.S191N	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.S151N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	191					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGGTTCACTGCTATCTCTTTC	0.413																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(571-573)aGc>aAc		cell division cycle 25A							126.0	131.0	129.0					3																	48219456		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48219456C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.572G>A	3.37:g.48219456C>T	ENSP00000303706:p.Ser191Asn					CDC25A_ENST00000351231.3_Missense_Mutation_p.S151N	p.S191N	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	980	-			191					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.572G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580258	0.03854	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.20463	2.07;2.07;2.07	5.32	-1.49	0.08718	.	1.207920	0.05269	N	0.517200	T	0.07773	0.0195	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.30679	-0.9970	10	0.13108	T	0.6	.	1.1936	0.01870	0.1403:0.3322:0.2744:0.253	.	151;191	P30304-2;P30304	.;MPIP1_HUMAN	N	191;151;190	ENSP00000303706:S191N;ENSP00000343166:S151N;ENSP00000416483:S190N	ENSP00000303706:S191N	S	-	2	0	CDC25A	48194460	0.000000	0.05858	0.003000	0.11579	0.315000	0.28087	-1.870000	0.01641	-0.036000	0.13669	-0.143000	0.13931	AGC		0.413	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		4	126	0	0	0	1	0	4	126				
TANC1	85461	broad.mit.edu	37	2	160050801	160050801	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160050801G>A	ENST00000263635.6	+	17	3013	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	TANC1_ENST00000454300.1_Missense_Mutation_p.V820M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	926					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGGGCCAACGTGAACTACAG	0.502																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2776-2778)Gtg>Atg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							77.0	77.0	77.0					2																	160050801		1969	4153	6122	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050801G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2776G>A	2.37:g.160050801G>A	ENSP00000263635:p.Val926Met					TANC1_ENST00000454300.1_Missense_Mutation_p.V820M	p.V926M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			17	3013	+			926					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2776G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963867	0.92791	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69040	2.19;-0.37	5.64	5.64	0.86602	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.986	D	0.85080	0.0945	10	0.59425	D	0.04	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	918;820;926	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	M	820;926	ENSP00000396339:V820M;ENSP00000263635:V926M	ENSP00000263635:V926M	V	+	1	0	TANC1	159759047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.783000	0.75078	2.685000	0.91497	0.650000	0.86243	GTG		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			8	53	0	0	0	1	0	8	53				
FZD5	7855	broad.mit.edu	37	2	208631911	208631911	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208631911C>T	ENST00000295417.3	-	2	2106	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	518					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GATCCAGACGCCCGACGTGAT	0.706																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1552-1554)gGc>gAc		frizzled family receptor 5							14.0	10.0	11.0					2																	208631911		2158	4236	6394	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208631911C>T	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1553G>A	2.37:g.208631911C>T	ENSP00000354607:p.Gly518Asp						p.G518D	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	2106	-			518					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1553G>A	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549499	0.86127	.	.	ENSG00000163251	ENST00000295417	D	0.83755	-1.76	4.84	4.84	0.62591	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94165	0.8128	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	.	18.1374	0.89624	0.0:1.0:0.0:0.0	.	518	Q13467	FZD5_HUMAN	D	518	ENSP00000354607:G518D	ENSP00000354607:G518D	G	-	2	0	FZD5	208340156	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.868000	0.69605	2.504000	0.84457	0.561000	0.74099	GGC		0.706	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		4	6	0	0	0	1	0	4	6				
ABHD2	11057	broad.mit.edu	37	15	89698746	89698746	+	Silent	SNP	G	G	A	rs139707395		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89698746G>A	ENST00000352732.5	+	5	1039	c.519G>A	c.(517-519)tcG>tcA	p.S173S	ABHD2_ENST00000355100.3_Silent_p.S173S|ABHD2_ENST00000565973.1_Silent_p.S173S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	173					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATTGACCTCGCCACGCATGT	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21941	0.0		0.0	False		,,,				2504	0.0				Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(517-519)tcG>tcA		abhydrolase domain containing 2		G	,	1,4399	2.1+/-5.4	0,1,2199	136.0	116.0	122.0		519,519	-11.0	0.1	15	dbSNP_134	122	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ABHD2	NM_007011.7,NM_152924.4	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	173/426,173/426	89698746	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89698746G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.519G>A	15.37:g.89698746G>A						ABHD2_ENST00000565973.1_Silent_p.S173S|ABHD2_ENST00000355100.3_Silent_p.S173S	p.S173S	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			5	1039	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		173					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.519G>A	CCDS10348.1																																																																																				0.488	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			43	44	0	0	0	1	0	43	44				
ESRRG	2104	broad.mit.edu	37	1	216850735	216850735	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216850735C>T	ENST00000408911.3	-	2	308	c.155G>A	c.(154-156)aGc>aAc	p.S52N	ESRRG_ENST00000361525.3_Missense_Mutation_p.S29N|ESRRG_ENST00000391890.3_Missense_Mutation_p.S29N|ESRRG_ENST00000366940.2_Missense_Mutation_p.S29N|ESRRG_ENST00000361395.2_Missense_Mutation_p.S29N|ESRRG_ENST00000463665.1_Missense_Mutation_p.S29N|ESRRG_ENST00000487276.1_Missense_Mutation_p.S29N|ESRRG_ENST00000360012.3_Missense_Mutation_p.S29N|ESRRG_ENST00000359162.2_Missense_Mutation_p.S29N|ESRRG_ENST00000493603.1_Missense_Mutation_p.S29N|ESRRG_ENST00000366937.1_Missense_Mutation_p.S57N|ESRRG_ENST00000366938.2_Missense_Mutation_p.S29N|ESRRG_ENST00000493748.1_Missense_Mutation_p.S29N	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	52					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTGGTTGACGCTGTCCGTCAG	0.542																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(85-87)aGc>aAc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						99.0	89.0	92.0					1																	216850735		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850735C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.155G>A	1.37:g.216850735C>T	ENSP00000386171:p.Ser52Asn					ESRRG_ENST00000366940.2_Missense_Mutation_p.S29N|ESRRG_ENST00000487276.1_Missense_Mutation_p.S29N|ESRRG_ENST00000408911.3_Missense_Mutation_p.S52N|ESRRG_ENST00000359162.2_Missense_Mutation_p.S29N|ESRRG_ENST00000463665.1_Missense_Mutation_p.S29N|ESRRG_ENST00000493748.1_Missense_Mutation_p.S29N|ESRRG_ENST00000361395.2_Missense_Mutation_p.S29N|ESRRG_ENST00000360012.3_Missense_Mutation_p.S29N|ESRRG_ENST00000366938.2_Missense_Mutation_p.S29N|ESRRG_ENST00000366937.1_Missense_Mutation_p.S57N|ESRRG_ENST00000361525.3_Missense_Mutation_p.S29N|ESRRG_ENST00000493603.1_Missense_Mutation_p.S29N	p.S29N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	603	-			52					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.86G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335765	0.95758	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.95307	-3.3;-3.3;-3.29;-3.28;-3.3;-3.3;-3.3;-3.3;-3.3;-3.32;-3.67;-3.3;-3.3;-3.12;0.83;0.73;0.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	L	0.48642	1.525	0.80722	D	1	B;P;B	0.36535	0.073;0.557;0.421	B;B;B	0.35971	0.045;0.215;0.074	D	0.91347	0.5101	10	0.46703	T	0.11	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	29;57;52	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	N	29;29;57;52;29;29;29;29;29;29;29;29;29;29;29;29;29;29	ENSP00000355225:S29N;ENSP00000355907:S29N;ENSP00000355904:S57N;ENSP00000386171:S52N;ENSP00000352077:S29N;ENSP00000354584:S29N;ENSP00000355905:S29N;ENSP00000353108:S29N;ENSP00000419594:S29N;ENSP00000375761:S29N;ENSP00000418629:S29N;ENSP00000419155:S29N;ENSP00000417374:S29N;ENSP00000419514:S29N;ENSP00000417900:S29N;ENSP00000420370:S29N;ENSP00000418895:S29N	ENSP00000346386:S29N	S	-	2	0	ESRRG	214917358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.992000	0.56980	2.937000	0.99478	0.650000	0.86243	AGC		0.542	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		10	25	0	0	0	1	0	10	25				
SYNE1	23345	broad.mit.edu	37	6	152686088	152686088	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152686088C>T	ENST00000367255.5	-	63	10640	c.10039G>A	c.(10039-10041)Gtc>Atc	p.V3347I	SYNE1_ENST00000265368.4_Missense_Mutation_p.V3347I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3386I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3354I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3347					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGAAGGACAGATTCTCCC	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(10039-10041)Gtc>Atc		spectrin repeat containing, nuclear envelope 1							154.0	144.0	147.0					6																	152686088		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.chr6:152686088C>T	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.10039G>A	6.37:g.152686088C>T	ENSP00000356224:p.Val3347Ile	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3386I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3354I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3347I	p.V3347I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10640	-		Ovarian(120;0.0955)	3347					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.10039G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140254	0.56936	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49720	1.41;1.4;1.41;1.4;0.77	5.17	5.17	0.71159	.	0.114883	0.38663	N	0.001612	T	0.43299	0.1241	M	0.77820	2.39	0.80722	D	1	B;B;B;B	0.22800	0.045;0.045;0.045;0.075	B;B;B;B	0.33846	0.051;0.051;0.051;0.171	T	0.44236	-0.9341	10	0.22706	T	0.39	.	18.6813	0.91547	0.0:1.0:0.0:0.0	.	3347;3347;3347;3354	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3347;3354;3347;3354;3386	ENSP00000356224:V3347I;ENSP00000396024:V3354I;ENSP00000265368:V3347I;ENSP00000390975:V3354I;ENSP00000341887:V3386I	ENSP00000265368:V3347I	V	-	1	0	SYNE1	152727781	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	4.681000	0.61663	2.405000	0.81733	0.650000	0.86243	GTC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	51	0	0	0	1	0	30	51				
SPTA1	6708	broad.mit.edu	37	1	158618332	158618332	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158618332G>A	ENST00000368147.4	-	26	3861	c.3681C>T	c.(3679-3681)ggC>ggT	p.G1227G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1227					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTTTCAAAGCCCTCATGCC	0.507																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3679-3681)ggC>ggT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							117.0	118.0	118.0					1																	158618332		1942	4121	6063	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618332G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3681C>T	1.37:g.158618332G>A						SPTA1_ENST00000368147.3_Silent_p.G1227G	p.G1227G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3861	-	all_hematologic(112;0.0378)		1227					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3681C>T	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	31	0	0	0	1	0	21	31				
ARID1B	57492	broad.mit.edu	37	6	157522284	157522284	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:157522284G>A	ENST00000350026.5	+	17	4518	c.4517G>A	c.(4516-4518)cGt>cAt	p.R1506H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1501H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1519H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1559H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1506	Pro-rich.		R -> H. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCAGCCAGCGTCAGCCTTAT	0.582																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4555-4557)cGt>cAt		AT rich interactive domain 1B (SWI1-like)							168.0	156.0	161.0					6																	157522284		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522284G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4517G>A	6.37:g.157522284G>A	ENSP00000055163:p.Arg1506His					ARID1B_ENST00000367148.1_Missense_Mutation_p.R1559H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R1506H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1501H	p.R1519H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4557	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1506			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4556G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099524	0.56183	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02395	4.65;4.63;4.63;4.63;4.31	5.18	4.31	0.51392	.	0.112953	0.64402	D	0.000009	T	0.01387	0.0045	L	0.43152	1.355	0.48236	D	0.999618	B;B;B	0.34255	0.317;0.445;0.445	B;B;B	0.25140	0.026;0.058;0.058	T	0.54990	-0.8210	10	0.54805	T	0.06	.	14.0758	0.64889	0.0726:0.0:0.9274:0.0	.	1506;1519;1501	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1519;1506;1559;1501;1028	ENSP00000344546:R1519H;ENSP00000055163:R1506H;ENSP00000356116:R1559H;ENSP00000275248:R1501H;ENSP00000412835:R1028H	ENSP00000275248:R1501H	R	+	2	0	ARID1B	157563976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.259000	0.72494	1.326000	0.45319	0.655000	0.94253	CGT		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		24	25	0	0	0	1	0	24	25				
KLHL26	55295	broad.mit.edu	37	19	18779107	18779107	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18779107G>A	ENST00000300976.4	+	3	990	c.900G>A	c.(898-900)ccG>ccA	p.P300P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	300										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCAGTCTCCGCGCACCGCCG	0.662																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(898-900)ccG>ccA		kelch-like family member 26							43.0	46.0	45.0					19																	18779107		2193	4274	6467	SO:0001819	synonymous_variant	55295							g.chr19:18779107G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.900G>A	19.37:g.18779107G>A						KLHL26_ENST00000599006.1_Intron	p.P300P	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	990	+			300					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.900G>A	CCDS12384.1																																																																																				0.662	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		16	14	0	0	0	1	0	16	14				
ITGA3	3675	broad.mit.edu	37	17	48154745	48154745	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48154745C>T	ENST00000320031.8	+	16	2403	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	ITGA3_ENST00000007722.7_Silent_p.P691P	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	691					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTCCTCAGCCCGGGGCCTGCC	0.592																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2071-2073)ccC>ccT		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							95.0	88.0	91.0					17																	48154745		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48154745C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2073C>T	17.37:g.48154745C>T						ITGA3_ENST00000007722.7_Silent_p.P691P	p.P691P	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			16	2403	+			691					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2073C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	7.030	0.560340	0.13498	.	.	ENSG00000005884	ENST00000506827	.	.	.	5.32	0.0401	0.14207	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.23266	N	0.998011	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	.	5.8095	0.18457	0.0:0.2241:0.257:0.5189	.	.	.	.	W	70	.	.	R	+	1	2	ITGA3	45509744	0.020000	0.18652	0.052000	0.19188	0.010000	0.07245	-0.468000	0.06656	-0.466000	0.06943	-2.750000	0.00124	CGG		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		19	26	0	0	0	1	0	19	26				
GGCX	2677	broad.mit.edu	37	2	85777082	85777082	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85777082G>A	ENST00000233838.4	-	15	2332	c.2252C>T	c.(2251-2253)cCt>cTt	p.P751L	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.P694L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	751					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GACAGGATCAGGATTTGACTC	0.468																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2251-2253)cCt>cTt		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						67.0	66.0	67.0					2																	85777082		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777082G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2252C>T	2.37:g.85777082G>A	ENSP00000233838:p.Pro751Leu					GGCX_ENST00000430215.3_Missense_Mutation_p.P694L	p.P751L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2332	-			751					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.2252C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059518	0.55325	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93488	-3.23;-3.16	6.07	5.12	0.69794	.	1.184050	0.05727	N	0.598825	D	0.86142	0.5862	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.71388	-0.4608	10	0.42905	T	0.14	-1.9126	13.3525	0.60609	0.0:0.0:0.8326:0.1674	.	694;567;751	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	L	751;694	ENSP00000233838:P751L;ENSP00000408045:P694L	ENSP00000233838:P751L	P	-	2	0	GGCX	85630593	0.032000	0.19561	0.058000	0.19502	0.503000	0.33858	2.699000	0.47077	2.884000	0.98904	0.655000	0.94253	CCT		0.468	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		6	24	0	0	0	1	0	6	24				
PCED1A	64773	broad.mit.edu	37	20	2819013	2819013	+	Missense_Mutation	SNP	G	G	A	rs200943983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2819013G>A	ENST00000360652.2	-	6	1208	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R185W|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	236	His-rich.																ACTGCATGCCGGAAGTGAAAG	0.607																																						ENST00000360652.2																			0											c.(706-708)Cgg>Tgg		PC-esterase domain containing 1A							143.0	121.0	128.0					20																	2819013		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2819013G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.706C>T	20.37:g.2819013G>A	ENSP00000353868:p.Arg236Trp					PCED1A_ENST00000356872.3_Missense_Mutation_p.R185W	p.R236W	NM_022760.3	NP_073597.2					6	1208	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.706C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089244	0.76756	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.14	4.14	0.48551	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.984;0.971;0.999	T	0.61372	-0.7076	10	0.87932	D	0	-21.0297	14.2925	0.66289	0.0:0.0:1.0:0.0	.	185;232;83;236	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	W	185;236;185;236	ENSP00000349334:R185W;ENSP00000353868:R236W;ENSP00000388935:R185W;ENSP00000401711:R236W	ENSP00000349334:R185W	R	-	1	2	FAM113A	2767013	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.182000	0.65059	2.309000	0.77851	0.563000	0.77884	CGG		0.607	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		19	25	0	0	0	1	0	19	25				
LMNA	4000	broad.mit.edu	37	1	156106169	156106169	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156106169C>T	ENST00000368300.4	+	7	1534	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	LMNA_ENST00000347559.2_Missense_Mutation_p.A441V|LMNA_ENST00000473598.2_Missense_Mutation_p.A342V|LMNA_ENST00000368301.2_Missense_Mutation_p.A441V|LMNA_ENST00000368299.3_Missense_Mutation_p.A441V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A441V|LMNA_ENST00000392353.3_Missense_Mutation_p.A360V|LMNA_ENST00000448611.2_Missense_Mutation_p.A329V|LMNA_ENST00000368297.1_Missense_Mutation_p.A360V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	441	LTD.|Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGGCGCGTGGCCGTGGAGGAG	0.612									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1321-1323)gCc>gTc		lamin A/C							43.0	47.0	46.0					1																	156106169		2203	4299	6502	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156106169C>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1322C>T	1.37:g.156106169C>T	ENSP00000357283:p.Ala441Val					LMNA_ENST00000392353.3_Missense_Mutation_p.A360V|LMNA_ENST00000368297.1_Missense_Mutation_p.A360V|LMNA_ENST00000368299.3_Missense_Mutation_p.A441V|LMNA_ENST00000448611.2_Missense_Mutation_p.A329V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A441V|LMNA_ENST00000368301.2_Missense_Mutation_p.A441V|LMNA_ENST00000347559.2_Missense_Mutation_p.A441V|LMNA_ENST00000473598.2_Missense_Mutation_p.A342V	p.A441V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			7	1534	+	Hepatocellular(266;0.158)		441			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.1322C>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021698	0.75275	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.74	5.74	0.90152	Intermediate filament, C-terminal (1);	0.107907	0.40302	N	0.001137	D	0.94899	0.8351	N	0.17082	0.46	0.45464	D	0.998438	D;P;P;P;D;D;P;D	0.58620	0.964;0.926;0.938;0.918;0.983;0.968;0.915;0.957	B;B;P;B;P;B;B;B	0.45681	0.254;0.254;0.49;0.254;0.456;0.389;0.231;0.357	D	0.95849	0.8873	10	0.66056	D	0.02	.	17.4233	0.87520	0.0:1.0:0.0:0.0	.	97;329;441;342;360;441;441;441	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	V	441;441;441;441;441;441;329;360;342;360;67	ENSP00000357284:A441V;ENSP00000292304:A441V;ENSP00000355292:A441V;ENSP00000357283:A441V;ENSP00000357282:A441V;ENSP00000395597:A329V;ENSP00000357280:A360V;ENSP00000421821:A342V;ENSP00000376164:A360V;ENSP00000424977:A67V	ENSP00000292302:A441V	A	+	2	0	LMNA	154372793	1.000000	0.71417	0.979000	0.43373	0.898000	0.52572	4.109000	0.57824	2.695000	0.91970	0.655000	0.94253	GCC		0.612	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		5	6	0	0	0	1	0	5	6				
OAS3	4940	broad.mit.edu	37	12	113379554	113379554	+	Silent	SNP	G	G	A	rs373041711		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113379554G>A	ENST00000228928.7	+	2	536	c.357G>A	c.(355-357)acG>acA	p.T119T	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.T119T|OAS3_ENST00000548514.1_Silent_p.T119T|OAS3_ENST00000546638.1_Intron	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	119	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGAGACTCACGTTTCCTGAGC	0.602																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(355-357)acG>acA		2'-5'-oligoadenylate synthetase 3, 100kDa		G		0,4184		0,0,2092	102.0	108.0	106.0		357	2.7	0.0	12		106	1,8473		0,1,4236	no	coding-synonymous	OAS3	NM_006187.2		0,1,6328	AA,AG,GG		0.0118,0.0,0.0079		119/1088	113379554	1,12657	2092	4237	6329	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113379554G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.357G>A	12.37:g.113379554G>A						OAS3_ENST00000546638.1_Intron|OAS3_ENST00000548514.1_Silent_p.T119T|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.T119T	p.T119T	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			2	536	+			119			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.357G>A	CCDS44981.1																																																																																				0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			35	35	0	0	0	1	0	35	35				
RBMXL1	494115	broad.mit.edu	37	1	89449362	89449362	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89449362C>T	ENST00000321792.5	-	2	575	c.148G>A	c.(148-150)Gga>Aga	p.G50R	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G50R|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	50	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										AAAGCAAATCCTCTTGATTTG	0.408											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399794.2																			0											c.(148-150)Gga>Aga		RNA binding motif protein, X-linked-like 1							189.0	181.0	184.0					1																	89449362		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449362C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.148G>A	1.37:g.89449362C>T	ENSP00000318415:p.Gly50Arg		OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.G50R	p.G50R	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	863	-			50			RRM.			Missense_Mutation	SNP	ENST00000321792.5	37	c.148G>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678625	0.88542	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.83250	-1.7;-1.7	1.59	1.59	0.23543	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000001	D	0.88592	0.6478	M	0.90870	3.155	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.87731	0.2579	10	0.87932	D	0	-6.9986	6.5804	0.22591	0.0:1.0:0.0:0.0	.	50	Q96E39	RBMXL_HUMAN	R	50	ENSP00000318415:G50R;ENSP00000446099:G50R	ENSP00000318415:G50R	G	-	1	0	RBMXL1	89221950	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.892000	0.63193	0.884000	0.36064	0.306000	0.20318	GGA		0.408	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		63	185	0	0	0	1	0	63	185				
TSPAN14	81619	broad.mit.edu	37	10	82264514	82264514	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:82264514C>T	ENST00000429989.3	+	3	335	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372158.1_Silent_p.L38L|TSPAN14_ENST00000341863.6_Silent_p.L38L|TSPAN14_ENST00000372156.1_Silent_p.L38L|TSPAN14_ENST00000481124.1_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	38					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGAGTCGGGCTGTGGGCATG	0.517																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(112-114)Ctg>Ttg		tetraspanin 14							211.0	178.0	189.0					10																	82264514		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82264514C>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.112C>T	10.37:g.82264514C>T						TSPAN14_ENST00000372158.1_Silent_p.L38L|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Silent_p.L38L|TSPAN14_ENST00000372156.1_Silent_p.L38L	p.L38L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	335	+			38					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.112C>T	CCDS7369.1																																																																																				0.517	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		17	47	0	0	0	1	0	17	47				
FAM186B	84070	broad.mit.edu	37	12	49993361	49993361	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49993361G>T	ENST00000257894.2	-	4	2223	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.L598M	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	688						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGCTGCGCAGGTAGTGGGGC	0.552																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1792-1794)Ctg>Atg		family with sequence similarity 186, member B							71.0	58.0	63.0					12																	49993361		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993361G>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2062C>A	12.37:g.49993361G>T	ENSP00000257894:p.Leu688Met					FAM186B_ENST00000257894.2_Missense_Mutation_p.L688M|FAM186B_ENST00000551047.1_Intron	p.L598M			Q8IYM0	F186B_HUMAN			4	2391	-			688					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1792C>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286254	0.40494	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.52754	0.65;0.65;0.65	5.1	4.2	0.49525	.	0.208574	0.24236	N	0.040311	T	0.65048	0.2654	M	0.75447	2.3	0.25906	N	0.983291	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.57723	-0.7762	9	.	.	.	-9.034	9.7438	0.40435	0.0969:0.0:0.9031:0.0	.	598;688	B4DZ15;Q8IYM0	.;F186B_HUMAN	M	598;301;688	ENSP00000438569:L598M;ENSP00000436995:L301M;ENSP00000257894:L688M	.	L	-	1	2	FAM186B	48279628	0.994000	0.37717	0.264000	0.24511	0.163000	0.22366	2.291000	0.43540	1.276000	0.44395	0.650000	0.86243	CTG		0.552	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		10	36	1	0	7.48243e-07	1	7.8103e-07	10	36				
CADM1	23705	broad.mit.edu	37	11	115109305	115109305	+	Silent	SNP	G	G	A	rs372592095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:115109305G>A	ENST00000452722.3	-	3	359	c.339C>T	c.(337-339)aaC>aaT	p.N113N	CADM1_ENST00000331581.6_Silent_p.N113N|CADM1_ENST00000542447.2_Silent_p.N113N|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.N113N|CADM1_ENST00000536727.1_Silent_p.N113N	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAATTGAGACGTTTGTCAATG	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(337-339)aaC>aaT		cell adhesion molecule 1		G	,	1,4401	2.1+/-5.4	0,1,2200	117.0	111.0	113.0		339,339	-4.4	0.9	11		113	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CADM1	NM_001098517.1,NM_014333.3	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	113/415,113/443	115109305	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109305G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.339C>T	11.37:g.115109305G>A						CADM1_ENST00000537058.1_Silent_p.N113N|CADM1_ENST00000452722.2_Silent_p.N113N|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.N113N|CADM1_ENST00000331581.6_Silent_p.N113N	p.N113N	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	467	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	113			Ig-like V-type.			Silent	SNP	ENST00000452722.3	37	c.339C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.429|7.429	0.638269|0.638269	0.14386|0.14386	2.27E-4|2.27E-4	0.0|0.0	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000543249	.|.	.|.	.|.	5.38|5.38	-4.37|-4.37	0.03633|0.03633	.|.	.|.	.|.	.|.	.|.	T|T	0.64616|0.64616	0.2614|0.2614	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63849|0.63849	-0.6544|-0.6544	4|4	.|.	.|.	.|.	.|.	15.2006|15.2006	0.73132|0.73132	0.3903:0.0:0.6097:0.0|0.3903:0.0:0.6097:0.0	.|.	.|.	.|.	.|.	C|M	112|97	.|.	.|.	R|T	-|-	1|2	0|0	CADM1|CADM1	114614515|114614515	0.071000|0.071000	0.21146|0.21146	0.895000|0.895000	0.35142|0.35142	0.965000|0.965000	0.64279|0.64279	-0.551000|-0.551000	0.06027|0.06027	-1.091000|-1.091000	0.03065|0.03065	-0.143000|-0.143000	0.13931|0.13931	CGT|ACG		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		27	43	0	0	0	1	0	27	43				
MACF1	23499	broad.mit.edu	37	1	39927670	39927670	+	Silent	SNP	G	G	A	rs142801936	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39927670G>A	ENST00000372915.3	+	92	21423	c.21336G>A	c.(21334-21336)gcG>gcA	p.A7112A	MACF1_ENST00000564288.1_Silent_p.A7213A|MACF1_ENST00000289893.4_Silent_p.A5656A|MACF1_ENST00000539005.1_Silent_p.A5024A|MACF1_ENST00000545844.1_Silent_p.A5154A|MACF1_ENST00000567887.1_Silent_p.A7250A|MACF1_ENST00000317713.7_Silent_p.A5154A|MACF1_ENST00000361689.2_Silent_p.A5154A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7112	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGATGCGTATCGACCAA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21637-21639)gcG>gcA		microtubule-actin crosslinking factor 1		G	,	2,4404	4.2+/-10.8	0,2,2201	158.0	146.0	150.0		15462,16968	2.7	1.0	1	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	,	5154/5431,5656/5939	39927670	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39927670G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21336G>A	1.37:g.39927670G>A						MACF1_ENST00000567887.1_Silent_p.A7250A|MACF1_ENST00000539005.1_Silent_p.A5024A|MACF1_ENST00000372915.3_Silent_p.A7112A|MACF1_ENST00000361689.2_Silent_p.A5154A|MACF1_ENST00000317713.7_Silent_p.A5154A|MACF1_ENST00000289893.4_Silent_p.A5656A|MACF1_ENST00000545844.1_Silent_p.A5154A	p.A7213A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		93	22416	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7112			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.21639G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.854|9.854	1.194472|1.194472	0.22037|0.22037	4.54E-4|4.54E-4	2.33E-4|2.33E-4	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	6.17|6.17	2.66|2.66	0.31614|0.31614	.|.	.|.	.|.	.|.	.|.	T|T	0.42944|0.42944	0.1225|0.1225	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27054|0.27054	-1.0085|-1.0085	4|4	.|.	.|.	.|.	.|.	1.1111|1.1111	0.01704|0.01704	0.1316:0.2285:0.2827:0.3572|0.1316:0.2285:0.2827:0.3572	.|.	.|.	.|.	.|.	H|I	261;55|4158;136	.|.	.|.	R|V	+|+	2|1	0|0	MACF1|MACF1	39700257|39700257	0.826000|0.826000	0.29277|0.29277	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	-0.058000|-0.058000	0.11750|0.11750	0.217000|0.217000	0.20800|0.20800	-1.072000|-1.072000	0.02254|0.02254	CGT|GTA		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		43	49	0	0	0	1	0	43	49				
TNIP2	79155	broad.mit.edu	37	4	2749522	2749522	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2749522G>T	ENST00000315423.7	-	2	513	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	TNIP2_ENST00000503235.1_Missense_Mutation_p.L143M|TNIP2_ENST00000510267.1_Missense_Mutation_p.L36M|TNIP2_ENST00000505186.1_5'Flank	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCGGCACAGGACGTCACTG	0.652																																						ENST00000510267.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(106-108)Ctg>Atg		TNFAIP3 interacting protein 2							115.0	111.0	112.0					4																	2749522		2203	4300	6503	SO:0001583	missense	79155					cytosol	protein binding	g.chr4:2749522G>T	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.427C>A	4.37:g.2749522G>T	ENSP00000321203:p.Leu143Met					TNIP2_ENST00000315423.7_Missense_Mutation_p.L143M|TNIP2_ENST00000503235.1_Missense_Mutation_p.L143M	p.L36M	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	533	-			143						Missense_Mutation	SNP	ENST00000315423.7	37	c.106C>A	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.988420	0.74589	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.70631	-0.5;1.82;1.82	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000006	D	0.82513	0.5053	M	0.81341	2.54	0.42395	D	0.992541	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.83983	0.0333	10	0.54805	T	0.06	-18.7251	10.998	0.47589	0.0966:0.0:0.9033:0.0	.	143;143	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	M	36;143;143	ENSP00000427613:L36M;ENSP00000321203:L143M;ENSP00000426314:L143M	ENSP00000321203:L143M	L	-	1	2	TNIP2	2719320	1.000000	0.71417	0.913000	0.36048	0.763000	0.43281	6.680000	0.74518	2.143000	0.66587	0.550000	0.68814	CTG		0.652	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		53	67	1	0	1.57914e-17	1	1.73871e-17	53	67				
CALB2	794	broad.mit.edu	37	16	71423690	71423690	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71423690C>T	ENST00000302628.4	+	11	815	c.738C>T	c.(736-738)agC>agT	p.S246S	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	246	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				ACAGAAAGAGCGTCATGTCCT	0.557																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(736-738)agC>agT		calbindin 2							160.0	142.0	148.0					16																	71423690		2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71423690C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.738C>T	16.37:g.71423690C>T						CALB2_ENST00000349553.5_3'UTR	p.S246S	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			11	815	+		Ovarian(137;0.125)	246			EF-hand 6.		A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	c.738C>T	CCDS10899.1																																																																																				0.557	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		62	84	0	0	0	1	0	62	84				
ZNF321P	399669	broad.mit.edu	37	19	53432418	53432418	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53432418G>A	ENST00000391777.3	-	4	561	c.440C>T	c.(439-441)gCt>gTt	p.A147V	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.A147V|ZNF816_ENST00000549216.1_Missense_Mutation_p.A78V			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTTGTTTCCAGCATGCCTTTG	0.433																																						ENST00000549216.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(232-234)gCt>gTt		zinc finger protein 816							192.0	189.0	190.0					19																	53432418		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53432418G>A	AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.440C>T	19.37:g.53432418G>A	ENSP00000375656:p.Ala147Val					ZNF816_ENST00000434371.2_Missense_Mutation_p.A147V|ZNF321P_ENST00000391777.3_Missense_Mutation_p.A147V|ZNF816-ZNF321P_ENST00000313956.4_RNA	p.A78V	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN			2	303	-			147			KRAB.		B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	c.233C>T	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	g	12.91	2.079192	0.36662	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.02236	4.38;5.65;5.65	1.78	0.6	0.17524	.	.	.	.	.	T	0.06462	0.0166	M	0.61703	1.905	0.09310	N	1	D	0.61697	0.99	P	0.62014	0.897	T	0.33979	-0.9847	9	0.33141	T	0.24	.	5.2838	0.15690	0.0:0.0:0.6613:0.3387	.	78	Q8N8H1	ZN321_HUMAN	V	78;147;147	ENSP00000449832:A78V;ENSP00000438519:A147V;ENSP00000375656:A147V	ENSP00000375656:A147V	A	-	2	0	ZNF321P;ZNF816	58124230	0.002000	0.14202	0.004000	0.12327	0.085000	0.17905	0.663000	0.25053	0.080000	0.16959	0.134000	0.15878	GCT		0.433	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805		5	218	0	0	0	1	0	5	218				
XIRP2	129446	broad.mit.edu	37	2	168110575	168110575	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168110575C>T	ENST00000409728.1	+	10	1398	c.1309C>T	c.(1309-1311)Ctt>Ttt	p.L437F	XIRP2_ENST00000409043.1_Missense_Mutation_p.L404F|XIRP2_ENST00000409605.1_Missense_Mutation_p.L182F|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3308I|XIRP2_ENST00000409195.1_Missense_Mutation_p.T3530I|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3530I|XIRP2_ENST00000409756.2_Missense_Mutation_p.L404F|XIRP2_ENST00000420519.1_Missense_Mutation_p.L437F	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATATGTATACTTTGTCAAAA	0.353																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10588-10590)aCt>aTt		xin actin-binding repeat containing 2							75.0	72.0	73.0					2																	168110575		1836	4089	5925	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168110575C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1309C>T	2.37:g.168110575C>T	ENSP00000386619:p.Leu437Phe					XIRP2_ENST00000420519.1_Missense_Mutation_p.L437F|XIRP2_ENST00000409728.1_Missense_Mutation_p.L437F|XIRP2_ENST00000409756.2_Missense_Mutation_p.L404F|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3530I|XIRP2_ENST00000409605.1_Missense_Mutation_p.L182F|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3308I|XIRP2_ENST00000409043.1_Missense_Mutation_p.L404F	p.T3530I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			10	10678	+			3355					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.10589C>T	CCDS56143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.715825|3.715825	0.68844|0.68844	.|.	.|.	ENSG00000163092|ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605|ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	D;D;D;D;D|T;T;T	0.87491|0.02631	-2.26;-2.26;-2.26;-2.26;-2.26|4.22;4.22;4.22	5.69|5.69	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.09247|0.09247	0.0228|0.0228	.|.	.|.	.|.	0.26934|0.26934	N|N	0.966407|0.966407	D;D|P;P	0.69078|0.49090	0.997;0.997|0.868;0.919	D;D|B;P	0.65987|0.54312	0.94;0.94|0.289;0.748	T|T	0.04413|0.04413	-1.0953|-1.0953	8|8	0.23891|0.54805	T|T	0.37|0.06	-1.0369|-1.0369	13.4077|13.4077	0.60924|0.60924	0.2949:0.7051:0.0:0.0|0.2949:0.7051:0.0:0.0	.|.	404;437|3355;3308	A4UGR9-4;A4UGR9-6|A4UGR9;A4UGR9-2	.;.|XIRP2_HUMAN;.	F|I	404;437;404;437;182|3530;3530;3308;944	ENSP00000386454:L404F;ENSP00000386619:L437F;ENSP00000386724:L404F;ENSP00000415541:L437F;ENSP00000386981:L182F|ENSP00000386840:T3530I;ENSP00000295237:T3530I;ENSP00000387255:T3308I	ENSP00000386454:L404F|ENSP00000295237:T3530I	L|T	+|+	1|2	0|0	XIRP2|XIRP2	167818821|167818821	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.724000|2.724000	0.47285|0.47285	1.356000|1.356000	0.45884|0.45884	0.563000|0.563000	0.77884|0.77884	CTT|ACT		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		26	29	0	0	0	1	0	26	29				
TMEM40	55287	broad.mit.edu	37	3	12791290	12791290	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12791290A>G	ENST00000314124.7	-	2	398	c.42T>C	c.(40-42)agT>agC	p.S14S	TMEM40_ENST00000264728.8_Silent_p.S14S|TMEM40_ENST00000431022.2_Silent_p.S30S|TMEM40_ENST00000435575.1_Silent_p.S14S|TMEM40_ENST00000435218.2_Silent_p.S14S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	14						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGTGGACTTGACTGTTGTCCT	0.448																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(40-42)agT>agC		transmembrane protein 40							217.0	183.0	194.0					3																	12791290		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12791290A>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.42T>C	3.37:g.12791290A>G						TMEM40_ENST00000435575.1_Silent_p.S14S|TMEM40_ENST00000435218.2_Silent_p.S14S|TMEM40_ENST00000264728.8_Silent_p.S14S|TMEM40_ENST00000431022.2_Silent_p.S30S	p.S14S	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			2	398	-			14					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.42T>C	CCDS2613.1																																																																																				0.448	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		30	35	0	0	0	1	0	30	35				
ZNF74	7625	broad.mit.edu	37	22	20761115	20761115	+	Missense_Mutation	SNP	G	G	A	rs548640768		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20761115G>A	ENST00000400451.2	+	5	2306	c.1792G>A	c.(1792-1794)Gtg>Atg	p.V598M	ZNF74_ENST00000356671.5_Missense_Mutation_p.V598M|ZNF74_ENST00000405993.1_Missense_Mutation_p.V566M|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	598					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			cacatactacgtgcctggcag	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21569	0.0		0.0	False		,,,				2504	0.0					ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1792-1794)Gtg>Atg		zinc finger protein 74							44.0	50.0	48.0					22																	20761115		2146	4261	6407	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761115G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1792G>A	22.37:g.20761115G>A	ENSP00000383301:p.Val598Met					ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.V598M|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.V566M	p.V598M	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2306	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	598					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1792G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.943	0.357914	0.11239	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.06371	3.41;3.41;3.31	4.17	-5.72	0.02406	.	0.942976	0.08673	N	0.910542	T	0.04182	0.0116	N	0.16790	0.44	0.09310	N	1	B	0.22003	0.063	B	0.13407	0.009	T	0.40232	-0.9574	10	0.56958	D	0.05	.	12.2036	0.54340	0.6767:0.0:0.3233:0.0	.	598	Q16587	ZNF74_HUMAN	M	598;598;566	ENSP00000383301:V598M;ENSP00000349098:V598M;ENSP00000385855:V566M	ENSP00000349098:V598M	V	+	1	0	ZNF74	19091115	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	-1.319000	0.02702	-1.085000	0.03088	-0.140000	0.14226	GTG		0.612	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		8	26	0	0	0	1	0	8	26				
LILRP2	79166	broad.mit.edu	37	19	55222078	55222078	+	RNA	SNP	C	C	T	rs572398187		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55222078C>T	ENST00000413439.1	+	0	1605									leukocyte immunoglobulin-like receptor pseudogene 2																		GCTGAATTCCCCATGAGTCCT	0.602																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55222078C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55222078C>T														0	1605	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.602	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		24	37	0	0	0	1	0	24	37				
ENTPD4	9583	broad.mit.edu	37	8	23290518	23290518	+	Missense_Mutation	SNP	C	C	T	rs200186299	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23290518C>T	ENST00000358689.4	-	13	2007	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R583H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	591					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGGGGAGTGCGCCTGTGGAT	0.647													C|||	7	0.00139776	0.0	0.0	5008	,	,		12526	0.006		0.0	False		,,,				2504	0.001					ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1771-1773)cGc>cAc		ectonucleoside triphosphate diphosphohydrolase 4		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	35.0	38.0	37.0		1748,1772	5.7	0.0	8		37	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ENTPD4	NM_001128930.2,NM_004901.4	29,29	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	583/609,591/617	23290518	4,13002	2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290518C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1772G>A	8.37:g.23290518C>T	ENSP00000351520:p.Arg591His					ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Missense_Mutation_p.R583H|ENTPD4_ENST00000356206.6_Intron	p.R591H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	2007	-		Prostate(55;0.114)	591					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1772G>A	CCDS6041.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.644293	0.96704	4.54E-4	2.33E-4	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.17213	2.3;2.29	5.68	5.68	0.88126	.	0.404849	0.26103	N	0.026331	T	0.43634	0.1256	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.75020	0.985;0.717	T	0.25537	-1.0129	10	0.72032	D	0.01	-4.8996	18.3625	0.90379	0.0:1.0:0.0:0.0	.	583;591	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	H	591;583	ENSP00000351520:R591H;ENSP00000408573:R583H	ENSP00000351520:R591H	R	-	2	0	ENTPD4	23346463	0.996000	0.38824	0.018000	0.16275	0.127000	0.20565	5.999000	0.70665	2.687000	0.91594	0.563000	0.77884	CGC		0.647	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		8	8	0	0	0	1	0	8	8				
MAGEE1	57692	broad.mit.edu	37	X	75649356	75649356	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:75649356C>T	ENST00000361470.2	+	1	1311	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	345	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCCGCCCACTCC	0.682																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1033-1035)Ccg>Tcg		melanoma antigen family E, 1							31.0	29.0	29.0					X																	75649356		2202	4298	6500	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649356C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1033C>T	X.37:g.75649356C>T	ENSP00000354912:p.Pro345Ser						p.P345S	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1311	+			345			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1033C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368689	0.11352	.	.	ENSG00000198934	ENST00000361470	T	0.03386	3.95	1.95	-0.0134	0.13984	.	.	.	.	.	T	0.02418	0.0074	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46289	-0.9202	9	0.33141	T	0.24	.	4.305	0.10942	0.0:0.5997:0.2339:0.1664	.	345	Q9HCI5	MAGE1_HUMAN	S	345	ENSP00000354912:P345S	ENSP00000354912:P345S	P	+	1	0	MAGEE1	75565760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.810000	0.04505	-0.109000	0.12044	0.529000	0.55759	CCG		0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		7	1	0	0	0	1	0	7	1				
GFI1B	8328	broad.mit.edu	37	9	135863817	135863817	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135863817C>A	ENST00000339463.3	+	8	1291	c.472C>A	c.(472-474)Cca>Aca	p.P158T	GFI1B_ENST00000372124.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372122.1_Missense_Mutation_p.P158T|GFI1B_ENST00000534944.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372123.1_Missense_Mutation_p.P158T|GFI1B_ENST00000450530.1_Missense_Mutation_p.P158T			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	158	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCTACTCCCCAGGCATGGA	0.637																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(472-474)Cca>Aca		growth factor independent 1B transcription repressor							55.0	42.0	47.0					9																	135863817		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863817C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.472C>A	9.37:g.135863817C>A	ENSP00000344782:p.Pro158Thr					GFI1B_ENST00000372124.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372123.1_Missense_Mutation_p.P158T|GFI1B_ENST00000534944.1_Missense_Mutation_p.P158T|GFI1B_ENST00000372122.1_Missense_Mutation_p.P158T|GFI1B_ENST00000450530.1_Missense_Mutation_p.P158T	p.P158T			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	8	1291	+			158			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.472C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171412	0.38315	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.11169	3.0;2.8;2.8;3.0;3.0;2.8	5.08	5.08	0.68730	.	0.062211	0.64402	D	0.000005	T	0.19685	0.0473	M	0.72894	2.215	0.58432	D	0.999992	D;B	0.61080	0.989;0.126	P;B	0.56700	0.804;0.058	T	0.13361	-1.0512	10	0.02654	T	1	-26.5384	10.9663	0.47414	0.0:0.904:0.0:0.096	.	158;158	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	T	158	ENSP00000361197:P158T;ENSP00000344782:P158T;ENSP00000409546:P158T;ENSP00000446134:P158T;ENSP00000361196:P158T;ENSP00000361195:P158T	ENSP00000344782:P158T	P	+	1	0	GFI1B	134853638	0.995000	0.38212	0.948000	0.38648	0.593000	0.36681	3.519000	0.53458	2.334000	0.79466	0.563000	0.77884	CCA		0.637	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		8	17	1	0	7.48243e-07	1	7.8103e-07	8	17				
CTAGE1	64693	broad.mit.edu	37	18	19997347	19997347	+	5'Flank	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19997347A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.I143T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TAGCGACTGTATCCTTTTGGA	0.363																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(427-429)aTa>aCa		cutaneous T-cell lymphoma-associated antigen 1							104.0	115.0	111.0					18																	19997347		2195	4296	6491	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997347A>G	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997347A>G	Exception_encountered						p.I143T	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	531	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		143					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.428T>C		.	.	.	.	.	.	.	.	.	.	A	10.74	1.435991	0.25813	.	.	ENSG00000212710	ENST00000391403	T	0.37411	1.2	0.909	-0.546	0.11840	.	.	.	.	.	T	0.52645	0.1747	M	0.85299	2.745	0.09310	N	1	D	0.65815	0.995	P	0.62014	0.897	T	0.42582	-0.9443	8	.	.	.	.	3.0397	0.06134	0.6821:0.0:0.3179:0.0	.	143	Q96RT6	CTGE2_HUMAN	T	143	ENSP00000375220:I143T	.	I	-	2	0	CTAGE1	18251345	0.001000	0.12720	0.003000	0.11579	0.256000	0.26092	0.685000	0.25378	-0.173000	0.10761	0.369000	0.22263	ATA		0.363	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		54	79	0	0	0	1	0	54	79				
RYR3	6263	broad.mit.edu	37	15	34078152	34078152	+	Silent	SNP	C	C	T	rs556697081		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34078152C>T	ENST00000389232.4	+	66	9628	c.9558C>T	c.(9556-9558)atC>atT	p.I3186I	RYR3_ENST00000415757.3_Silent_p.I3186I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3186					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGGCATCGATGAGGCCT	0.542																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9556-9558)atC>atT		ryanodine receptor 3							135.0	146.0	143.0					15																	34078152		2137	4256	6393	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078152C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9558C>T	15.37:g.34078152C>T						RYR3_ENST00000415757.3_Silent_p.I3186I	p.I3186I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9628	+		all_lung(180;7.18e-09)	3186					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9558C>T	CCDS45210.1																																																																																				0.542	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			45	57	0	0	0	1	0	45	57				
FAT1	2195	broad.mit.edu	37	4	187531072	187531072	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:187531072G>A	ENST00000441802.2	-	15	10160	c.9951C>T	c.(9949-9951)gaC>gaT	p.D3317D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3317	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTGGCAACGTCGCTCAGTG	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9949-9951)gaC>gaT		FAT atypical cadherin 1							115.0	118.0	117.0					4																	187531072		2032	4191	6223	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187531072G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9951C>T	4.37:g.187531072G>A		HNSCC(5;0.00058)					p.D3317D	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			15	10160	-			3317			Cadherin 30.			Silent	SNP	ENST00000441802.2	37	c.9951C>T	CCDS47177.1																																																																																				0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	16	0	0	0	1	0	15	16				
AHNAK	79026	broad.mit.edu	37	11	62289163	62289163	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62289163G>A	ENST00000378024.4	-	5	13000	c.12726C>T	c.(12724-12726)ggC>ggT	p.G4242G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4242					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGAATTTAGGGCCCTTTAGTT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12724-12726)ggC>ggT		AHNAK nucleoprotein							208.0	217.0	214.0					11																	62289163		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289163G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12726C>T	11.37:g.62289163G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G4242G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13000	-		Melanoma(852;0.155)	4242					A1A586	Silent	SNP	ENST00000378024.4	37	c.12726C>T	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		100	145	0	0	0	1	0	100	145				
HIPK1	204851	broad.mit.edu	37	1	114512767	114512767	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114512767G>A	ENST00000369558.1	+	14	3193	c.2961G>A	c.(2959-2961)gtG>gtA	p.V987V	HIPK1_ENST00000369553.1_Silent_p.V593V|HIPK1_ENST00000340480.4_Silent_p.V613V|HIPK1_ENST00000369561.4_Silent_p.V953V|HIPK1_ENST00000369554.2_Silent_p.V942V|HIPK1_ENST00000369559.4_Silent_p.V987V|HIPK1_ENST00000426820.2_Silent_p.V987V|HIPK1_ENST00000406344.1_Silent_p.V593V|HIPK1_ENST00000369555.2_Silent_p.V942V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	987	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCATTGTGCCTCCACTGA	0.527																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2959-2961)gtG>gtA		homeodomain interacting protein kinase 1							116.0	103.0	107.0					1																	114512767		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114512767G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2961G>A	1.37:g.114512767G>A						HIPK1_ENST00000406344.1_Silent_p.V593V|HIPK1_ENST00000369555.2_Silent_p.V942V|HIPK1_ENST00000340480.4_Silent_p.V613V|HIPK1_ENST00000369559.4_Silent_p.V987V|HIPK1_ENST00000369553.1_Silent_p.V593V|HIPK1_ENST00000426820.2_Silent_p.V987V|HIPK1_ENST00000369561.4_Silent_p.V953V|HIPK1_ENST00000369554.2_Silent_p.V942V	p.V987V			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	3193	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	987			Interaction with TP53.|Required for localization to nuclear speckles (By similarity).		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2961G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194645	0.22037	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.77	3.89	0.44902	.	.	.	.	.	T	0.41858	0.1177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35895	-0.9770	4	.	.	.	.	7.1371	0.25535	0.152:0.1401:0.7079:0.0	.	.	.	.	T	268	.	.	A	+	1	0	HIPK1	114314290	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.396000	0.20867	0.762000	0.33152	0.561000	0.74099	GCC		0.527	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		21	79	0	0	0	1	0	21	79				
SEMA3D	223117	broad.mit.edu	37	7	84694864	84694864	+	Silent	SNP	C	C	T	rs370398304		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84694864C>T	ENST00000284136.6	-	6	637	c.594G>A	c.(592-594)gaG>gaA	p.E198E	SEMA3D_ENST00000444867.1_Silent_p.E198E	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTAGAGGTACTCATCTGAGA	0.413																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(592-594)gaG>gaA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D		C		0,4406		0,0,2203	101.0	91.0	94.0		594	3.1	1.0	7		94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEMA3D	NM_152754.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		198/778	84694864	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84694864C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.594G>A	7.37:g.84694864C>T						SEMA3D_ENST00000444867.1_Silent_p.E198E	p.E198E	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			6	637	-			198			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.594G>A	CCDS34676.1																																																																																				0.413	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		14	30	0	0	0	1	0	14	30				
CEP350	9857	broad.mit.edu	37	1	179985037	179985037	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179985037G>C	ENST00000367607.3	+	11	2524	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	702					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACAAAGTACAGGAACGTCCCC	0.418																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2104-2106)caG>caC		centrosomal protein 350kDa							99.0	87.0	91.0					1																	179985037		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179985037G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2106G>C	1.37:g.179985037G>C	ENSP00000356579:p.Gln702His						p.Q702H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			11	2524	+			702					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2106G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806605	0.50421	.	.	ENSG00000135837	ENST00000367607	T	0.13657	2.57	5.57	3.37	0.38596	.	0.000000	0.43416	D	0.000563	T	0.18215	0.0437	N	0.20986	0.625	0.41059	D	0.985361	D;P	0.67145	0.996;0.553	D;B	0.75484	0.986;0.335	T	0.05007	-1.0912	9	.	.	.	.	6.7267	0.23361	0.3565:0.0:0.6435:0.0	.	702;702	E7EU22;Q5VT06	.;CE350_HUMAN	H	702	ENSP00000356579:Q702H	.	Q	+	3	2	CEP350	178251660	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.174000	0.16743	1.370000	0.46153	0.563000	0.77884	CAG		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		7	16	0	0	0	1	0	7	16				
CDH8	1006	broad.mit.edu	37	16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					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)			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)		TTTATGCCGCCGTAGAGTTAC	0.383																																						ENST00000577390.1																			0				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						c.(1933-1935)cGg>cAg		cadherin 8, type 2							61.0	61.0	61.0					16																	61687978		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.chr16:61687978C>T	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.1934G>A	16.37:g.61687978C>T	ENSP00000462701:p.Arg645Gln					CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	p.R645Q	NM_001796.4	NP_001787.2	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)	12	2888	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	645					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1934G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035522	0.97221	.	.	ENSG00000150394	ENST00000299345	T	0.59906	0.23	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.74864	-0.3519	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	645	P55286	CADH8_HUMAN	Q	645	ENSP00000299345:R645Q	ENSP00000299345:R645Q	R	-	2	0	CDH8	60245479	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	CGG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		36	49	0	0	0	1	0	36	49				
GSDMA	284110	broad.mit.edu	37	17	38133270	38133270	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38133270G>A	ENST00000301659.4	+	12	1415	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	433					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGCTCTTTATGCAGGCCTCTC	0.567																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1297-1299)Gca>Aca		gasdermin A							104.0	106.0	105.0					17																	38133270		1960	4155	6115	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133270G>A	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1297G>A	17.37:g.38133270G>A	ENSP00000301659:p.Ala433Thr						p.A433T	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			12	1415	+			433					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1297G>A	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662607	0.67700	.	.	ENSG00000167914	ENST00000301659	T	0.35048	1.33	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000003	T	0.45538	0.1347	L	0.53561	1.675	0.42300	D	0.992172	P	0.48503	0.911	P	0.49387	0.609	T	0.39761	-0.9598	10	0.62326	D	0.03	-10.9192	15.6776	0.77341	0.0:0.0:1.0:0.0	.	433	Q96QA5	GSDMA_HUMAN	T	433	ENSP00000301659:A433T	ENSP00000301659:A433T	A	+	1	0	GSDMA	35386796	0.864000	0.29904	0.971000	0.41717	0.719000	0.41307	3.493000	0.53266	2.771000	0.95319	0.561000	0.74099	GCA		0.567	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		21	31	0	0	0	1	0	21	31				
MYD88	4615	broad.mit.edu	37	3	38182003	38182003	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38182003C>T	ENST00000396334.3	+	3	811	c.627C>T	c.(625-627)cgC>cgT	p.R209R	MYD88_ENST00000424893.1_Silent_p.R164R|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000417037.2_Silent_p.R209R	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	196	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.R209R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTCTGACCGCGATGTCCTGC	0.542			Mis		ABC-DLBCL																																	ENST00000417037.2				Dom	yes		3	3p22	4615	Mis	myeloid differentiation primary response gene (88)			L			ABC-DLBCL		1	Substitution - coding silent(1)	p.R209R(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(625-627)cgC>cgT		myeloid differentiation primary response 88							173.0	148.0	156.0					3																	38182003		2203	4300	6503	SO:0001819	synonymous_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38182003C>T	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.627C>T	3.37:g.38182003C>T						MYD88_ENST00000495303.1_Intron|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Silent_p.R209R|MYD88_ENST00000424893.1_Silent_p.R164R	p.R209R	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	3	811	+			196			TIR.		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	ENST00000396334.3	37	c.627C>T	CCDS2674.2																																																																																				0.542	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		33	42	0	0	0	1	0	33	42				
DERL1	79139	broad.mit.edu	37	8	124031544	124031544	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124031544C>T	ENST00000259512.4	-	7	808	c.508G>A	c.(508-510)Gta>Ata	p.V170I	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Splice_Site_p.V70I|DERL1_ENST00000419562.2_Splice_Site_p.V70I|DERL1_ENST00000519018.1_Splice_Site_p.V70I|DERL1_ENST00000405944.3_Intron	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	170					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATTGATTACCCTGCAAAGA	0.388																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.e7-1		derlin 1							61.0	59.0	60.0					8																	124031544		2203	4300	6503	SO:0001630	splice_region_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124031544C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.507-1G>A	8.37:g.124031544C>T						DERL1_ENST00000419562.2_Splice_Site_p.V70_splice|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Splice_Site_p.V70_splice|DERL1_ENST00000523036.1_Splice_Site_p.V70_splice|DERL1_ENST00000405944.3_Intron	p.V170_splice	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		7	808	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		170					B3KW41|E9PH19	Splice_Site	SNP	ENST00000259512.4	37	c.506_splice	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	4.321	0.058999	0.08339	.	.	ENSG00000136986	ENST00000259512;ENST00000419562;ENST00000519018;ENST00000523036	T;T;T;T	0.31247	2.83;1.5;2.83;2.83	5.51	4.63	0.57726	.	0.057033	0.64402	D	0.000002	T	0.27454	0.0674	N	0.20986	0.625	0.51012	D	0.999905	P;B	0.39624	0.681;0.0	P;B	0.48166	0.569;0.003	T	0.03750	-1.1007	10	0.14252	T	0.57	.	11.5934	0.50959	0.0:0.8562:0.0:0.1438	.	70;170	B4E1G1;Q9BUN8	.;DERL1_HUMAN	I	170;70;70;70	ENSP00000259512:V170I;ENSP00000389965:V70I;ENSP00000430086:V70I;ENSP00000429199:V70I	ENSP00000259512:V170I	V	-	1	0	DERL1	124100725	0.997000	0.39634	0.988000	0.46212	0.977000	0.68977	2.228000	0.42981	1.318000	0.45170	0.655000	0.94253	GTA		0.388	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295	Missense_Mutation	10	16	0	0	0	1	0	10	16				
LINGO1	84894	broad.mit.edu	37	15	77907625	77907625	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77907625G>A	ENST00000355300.6	-	2	798	c.624C>T	c.(622-624)acC>acT	p.T208T	LINGO1_ENST00000561030.1_Silent_p.T202T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	208					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGCGCCTCGGTGGGGATGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(622-624)acC>acT		leucine rich repeat and Ig domain containing 1							104.0	114.0	111.0					15																	77907625		2174	4272	6446	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907625G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.624C>T	15.37:g.77907625G>A						LINGO1_ENST00000561030.1_Silent_p.T202T	p.T208T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	798	-			208					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.624C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		43	41	0	0	0	1	0	43	41				
TDG	6996	broad.mit.edu	37	12	104377098	104377098	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104377098A>C	ENST00000392872.3	+	7	957	c.723A>C	c.(721-723)gaA>gaC	p.E241D	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.E98D|TDG_ENST00000542036.1_Missense_Mutation_p.E37D|TDG_ENST00000266775.9_Missense_Mutation_p.E237D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	241					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTAGTAAAGAAGTTTTTGGAG	0.279								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(721-723)gaA>gaC	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							47.0	49.0	48.0					12																	104377098		2166	4277	6443	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377098A>C	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.723A>C	12.37:g.104377098A>C	ENSP00000376611:p.Glu241Asp					TDG_ENST00000544861.1_Missense_Mutation_p.E98D|TDG_ENST00000542036.1_Missense_Mutation_p.E37D|TDG_ENST00000266775.9_Missense_Mutation_p.E237D	p.E241D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	7	957	+			241					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.723A>C	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882516	0.72294	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.92;0.92	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	L	0.50919	1.6	0.53688	D	0.999977	D;B;P	0.71674	0.998;0.32;0.856	D;B;P	0.65684	0.937;0.394;0.788	T	0.62868	-0.6763	10	0.44086	T	0.13	-33.6997	10.617	0.45456	0.925:0.0:0.075:0.0	.	37;241;241	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	D	241;237;98;234;37	ENSP00000376611:E241D;ENSP00000266775:E237D;ENSP00000445899:E98D;ENSP00000439825:E234D;ENSP00000439054:E37D	ENSP00000266775:E237D	E	+	3	2	TDG	102901228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.137000	0.50562	2.037000	0.60232	0.460000	0.39030	GAA		0.279	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			38	54	0	0	0	1	0	38	54				
ZFYVE28	57732	broad.mit.edu	37	4	2307027	2307027	+	Missense_Mutation	SNP	C	C	T	rs372107124		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2307027C>T	ENST00000290974.2	-	8	1379	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317H|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277H|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	347					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGGACCATGCGGCTGAGCTG	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1039-1041)cGc>cAc		zinc finger, FYVE domain containing 28							48.0	49.0	49.0					4																	2307027		2203	4299	6502	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307027C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1040G>A	4.37:g.2307027C>T	ENSP00000290974:p.Arg347His					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317H|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277H	p.R347H	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1379	-			347					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1040G>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530922	0.64972	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.59502	0.27;0.26;0.26	5.56	4.53	0.55603	.	0.186707	0.53938	D	0.000046	T	0.62048	0.2396	L	0.60455	1.87	0.80722	D	1	D;D	0.63046	0.992;0.99	P;P	0.53861	0.736;0.628	T	0.63202	-0.6690	10	0.52906	T	0.07	.	9.3347	0.38043	0.1471:0.7679:0.0:0.085	.	317;347	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	H	347;317;277	ENSP00000290974:R347H;ENSP00000425706:R317H;ENSP00000426299:R277H	ENSP00000290974:R347H	R	-	2	0	ZFYVE28	2276825	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	3.427000	0.52785	2.634000	0.89283	0.537000	0.68136	CGC		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		14	20	0	0	0	1	0	14	20				
ZDHHC14	79683	broad.mit.edu	37	6	158093781	158093781	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158093781G>A	ENST00000359775.5	+	9	1983	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	365					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGCATTCAGAGCACCAAATTC	0.662																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(1093-1095)aGc>aAc		zinc finger, DHHC-type containing 14							28.0	26.0	27.0					6																	158093781		2158	4210	6368	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093781G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1094G>A	6.37:g.158093781G>A	ENSP00000352821:p.Ser365Asn					ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR	p.S365N			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	1983	+		Breast(66;0.00586)|Ovarian(120;0.123)	365					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.1094G>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525305	0.85600	.	.	ENSG00000175048	ENST00000359775;ENST00000538483	T	0.28255	1.62	5.53	5.53	0.82687	.	0.717398	0.14313	N	0.327523	T	0.20780	0.0500	L	0.59436	1.845	0.80722	D	1	B	0.33694	0.421	B	0.32864	0.154	T	0.07309	-1.0779	10	0.18710	T	0.47	-27.3392	19.4714	0.94965	0.0:0.0:1.0:0.0	.	365	Q8IZN3	ZDH14_HUMAN	N	365;369	ENSP00000352821:S365N	ENSP00000352821:S365N	S	+	2	0	ZDHHC14	158013769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.312000	0.96287	2.596000	0.87737	0.563000	0.77884	AGC		0.662	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		10	15	0	0	0	1	0	10	15				
PRPF8	10594	broad.mit.edu	37	17	1585167	1585167	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1585167G>A	ENST00000572621.1	-	4	865	c.600C>T	c.(598-600)gaC>gaT	p.D200D	PRPF8_ENST00000304992.6_Silent_p.D200D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	200					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACACAGGGGCGTCCTCCTCAG	0.542																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(598-600)gaC>gaT		pre-mRNA processing factor 8							98.0	103.0	101.0					17																	1585167		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585167G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.600C>T	17.37:g.1585167G>A						PRPF8_ENST00000304992.6_Silent_p.D200D	p.D200D			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	4	865	-			200					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.600C>T	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			25	52	0	0	0	1	0	25	52				
KIF1A	547	broad.mit.edu	37	2	241713664	241713664	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241713664T>C	ENST00000320389.7	-	12	1131	c.973A>G	c.(973-975)Aca>Gca	p.T325A	KIF1A_ENST00000498729.2_Missense_Mutation_p.T325A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	325	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCATAGCTGTCCTTGAGTTA	0.577																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(973-975)Aca>Gca		kinesin family member 1A							66.0	69.0	68.0					2																	241713664		2120	4227	6347	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713664T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.973A>G	2.37:g.241713664T>C	ENSP00000322791:p.Thr325Ala					KIF1A_ENST00000320389.7_Missense_Mutation_p.T325A	p.T325A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1219	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	325			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.973A>G	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.70|16.70	3.194833|3.194833	0.58017|0.58017	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000428768|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|D;D;D	.|0.91068	.|-2.78;-2.78;-2.78	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Kinesin, motor domain (4);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.96078|0.96078	0.8722|0.8722	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.97110	.|1.0;0.988;0.999	D|D	0.96825|0.96825	0.9607|0.9607	5|10	.|0.87932	.|D	.|0	.|.	13.1872|13.1872	0.59688|0.59688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|325;325;325	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	G|A	132|325	.|ENSP00000322791:T325A;ENSP00000438388:T325A;ENSP00000384231:T325A	.|ENSP00000322791:T325A	D|T	-|-	2|1	0|0	KIF1A|KIF1A	241362337|241362337	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.300000|0.300000	0.27592|0.27592	7.716000|7.716000	0.84723|0.84723	1.593000|1.593000	0.50029|0.50029	0.374000|0.374000	0.22700|0.22700	GAC|ACA		0.577	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		12	11	0	0	0	1	0	12	11				
KCTD19	146212	broad.mit.edu	37	16	67327470	67327470	+	Missense_Mutation	SNP	C	C	A	rs73592842	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67327470C>A	ENST00000304372.5	-	12	2250	c.2195G>T	c.(2194-2196)aGc>aTc	p.S732I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	732					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTCTGCTTGCTCCAGTCCTT	0.542																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2194-2196)aGc>aTc		potassium channel tetramerization domain containing 19							107.0	113.0	111.0					16																	67327470		2014	4173	6187	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327470C>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2195G>T	16.37:g.67327470C>A	ENSP00000305702:p.Ser732Ile						p.S732I	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2250	-		Ovarian(137;0.192)	732					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2195G>T	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084983	0.36758	.	.	ENSG00000168676	ENST00000304372	T	0.59083	0.29	5.86	1.43	0.22495	.	0.924310	0.09123	N	0.845444	T	0.36991	0.0987	N	0.08118	0	0.21445	N	0.99968	B	0.06786	0.001	B	0.09377	0.004	T	0.32666	-0.9898	10	0.87932	D	0	-3.0649	9.1884	0.37184	0.0:0.5018:0.4198:0.0785	.	732	Q17RG1	KCD19_HUMAN	I	732	ENSP00000305702:S732I	ENSP00000305702:S732I	S	-	2	0	KCTD19	65884971	0.988000	0.35896	0.999000	0.59377	0.945000	0.59286	0.218000	0.17622	0.348000	0.23949	-0.253000	0.11424	AGC		0.542	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		26	66	1	0	1.2476e-16	1	1.37101e-16	26	66				
ZNF789	285989	broad.mit.edu	37	7	99084663	99084663	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99084663G>T	ENST00000331410.5	+	5	1100	c.830G>T	c.(829-831)aGg>aTg	p.R277M	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAACATAAGAGGATTCACACC	0.398																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(829-831)aGg>aTg		zinc finger protein 789							72.0	76.0	75.0					7																	99084663		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084663G>T	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.830G>T	7.37:g.99084663G>T	ENSP00000331927:p.Arg277Met					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.R277M	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	1100	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		277					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.830G>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498614	0.44455	.	.	ENSG00000198556	ENST00000331410	T	0.25579	1.79	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47764	0.1463	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.53704	-0.8401	9	0.72032	D	0.01	.	10.9586	0.47372	0.0:0.0:1.0:0.0	.	277	Q5FWF6	ZN789_HUMAN	M	277	ENSP00000331927:R277M	ENSP00000331927:R277M	R	+	2	0	ZNF789	98922599	0.002000	0.14202	0.019000	0.16419	0.718000	0.41266	1.162000	0.31786	1.678000	0.50952	0.557000	0.71058	AGG		0.398	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		24	27	1	0	6.44725e-10	1	6.8705e-10	24	27				
PIP	5304	broad.mit.edu	37	7	142836256	142836256	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142836256C>T	ENST00000291009.3	+	3	330	c.290C>T	c.(289-291)aCc>aTc	p.T97I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	97					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AATCCAAAAACCTTCTACTGG	0.438																																						ENST00000291009.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18						c.(289-291)aCc>aTc		prolactin-induced protein							116.0	104.0	108.0					7																	142836256		2203	4299	6502	SO:0001583	missense	5304					extracellular region	actin binding	g.chr7:142836256C>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.290C>T	7.37:g.142836256C>T	ENSP00000291009:p.Thr97Ile						p.T97I	NM_002652.2	NP_002643.1	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	3	330	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	97					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.290C>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324256	0.41197	.	.	ENSG00000159763	ENST00000291009	T	0.17054	2.3	4.84	-4.37	0.03633	.	0.486571	0.19124	N	0.122110	T	0.27629	0.0679	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	D	0.63033	0.91	T	0.06734	-1.0810	10	0.54805	T	0.06	.	9.5971	0.39580	0.3477:0.1982:0.4542:0.0	.	97	P12273	PIP_HUMAN	I	97	ENSP00000291009:T97I	ENSP00000291009:T97I	T	+	2	0	PIP	142546378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.053000	0.01400	-0.568000	0.06038	-0.974000	0.02594	ACC		0.438	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652		22	86	0	0	0	1	0	22	86				
MMP17	4326	broad.mit.edu	37	12	132334397	132334397	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132334397C>T	ENST00000360564.1	+	9	1357	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	MMP17_ENST00000535291.1_Missense_Mutation_p.R335C|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	419					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	AGGATACCCGCGCCCCGTCTC	0.612																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1255-1257)Cgc>Tgc		matrix metallopeptidase 17 (membrane-inserted)							93.0	95.0	94.0					12																	132334397		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334397C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1255C>T	12.37:g.132334397C>T	ENSP00000353767:p.Arg419Cys					MMP17_ENST00000535291.1_Missense_Mutation_p.R335C|MMP17_ENST00000535004.1_Intron	p.R419C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	9	1357	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		419			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1255C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103237	0.76983	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.067667	0.64402	D	0.000016	T	0.24122	0.0584	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.09509	-1.0671	10	0.87932	D	0	.	12.3093	0.54920	0.1693:0.8307:0.0:0.0	.	419	Q9ULZ9	MMP17_HUMAN	C	419;335;260;49	ENSP00000353767:R419C;ENSP00000441106:R335C;ENSP00000442104:R260C;ENSP00000439542:R49C	ENSP00000353767:R419C	R	+	1	0	MMP17	130900350	0.973000	0.33851	0.980000	0.43619	0.819000	0.46315	2.404000	0.44539	2.054000	0.61138	0.471000	0.43371	CGC		0.612	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		4	75	0	0	0	1	0	4	75				
FLT4	2324	broad.mit.edu	37	5	180057555	180057555	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180057555C>A	ENST00000261937.6	-	3	478	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	FLT4_ENST00000502649.1_Splice_Site_p.D134Y|FLT4_ENST00000393347.3_Splice_Site_p.D134Y|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	134					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTCTCACCTCTCACGAAC	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e3+1		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69.0	61.0	64.0					5																	180057555		2202	4298	6500	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057555C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.400+1G>T	5.37:g.180057555C>A						FLT4_ENST00000502649.1_Splice_Site_p.D134_splice|FLT4_ENST00000393347.3_Splice_Site_p.D134_splice|FLT4_ENST00000424276.2_5'UTR	p.D134_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	478	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	134					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.400_splice	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620467	0.87460	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.50813	0.73;0.73;0.73	4.9	4.9	0.64082	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69922	0.3165	M	0.79123	2.44	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.939;0.939	D;D;P;P	0.74023	0.976;0.982;0.685;0.685	T	0.72070	-0.4401	8	.	.	.	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	134;134;134;134	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	Y	134	ENSP00000261937:D134Y;ENSP00000377016:D134Y;ENSP00000426057:D134Y	.	D	-	1	0	FLT4	179990161	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.142000	0.77339	2.465000	0.83290	0.456000	0.33151	GAC		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Missense_Mutation	13	8	1	0	2.48551e-13	1	2.69865e-13	13	8				
RMND1	55005	broad.mit.edu	37	6	151744681	151744681	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151744681A>G	ENST00000367303.4	-	7	1038	c.916T>C	c.(916-918)Tcc>Ccc	p.S306P	RMND1_ENST00000336451.3_Missense_Mutation_p.S95P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	306					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		AGAGCATTGGAGAAAGCAAAC	0.398																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(916-918)Tcc>Ccc		required for meiotic nuclear division 1 homolog (S. cerevisiae)							138.0	133.0	135.0					6																	151744681		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151744681A>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.916T>C	6.37:g.151744681A>G	ENSP00000356272:p.Ser306Pro					RMND1_ENST00000336451.3_Missense_Mutation_p.S95P	p.S306P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	7	1038	-		Ovarian(120;0.125)	306					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.916T>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770360	0.90108	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000444024	D;T	0.89050	-2.46;-1.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97114	0.9806	10	0.87932	D	0	-15.0818	15.8226	0.78667	1.0:0.0:0.0:0.0	.	306	Q9NWS8	RMND1_HUMAN	P	95;306;136	ENSP00000336683:S95P;ENSP00000356272:S306P	ENSP00000336683:S95P	S	-	1	0	RMND1	151786374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.021000	0.88750	2.213000	0.71641	0.477000	0.44152	TCC		0.398	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		33	44	0	0	0	1	0	33	44				
BRINP2	57795	broad.mit.edu	37	1	177250451	177250451	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:177250451G>A	ENST00000361539.4	+	8	2451	c.2139G>A	c.(2137-2139)caG>caA	p.Q713Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	713					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AAGGTTCCCAGGACTCTGCAC	0.532																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(2137-2139)caG>caA									107.0	106.0	106.0					1																	177250451		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:177250451G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2139G>A	1.37:g.177250451G>A						FAM5B_ENST00000478325.1_3'UTR	p.Q713Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2451	+			713					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.2139G>A	CCDS1320.1																																																																																				0.532	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		25	71	0	0	0	1	0	25	71				
NDUFAF6	137682	broad.mit.edu	37	8	96059229	96059229	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:96059229G>T	ENST00000396124.4	+	6	611	c.588G>T	c.(586-588)aaG>aaT	p.K196N	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.K144N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.K44N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.K104N|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.K104N	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	196					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TAGGTATAAAGGATCTTCATG	0.368																																						ENST00000396113.1																			0											c.(310-312)aaG>aaT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							110.0	97.0	101.0					8																	96059229		1874	4116	5990	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96059229G>T	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.588G>T	8.37:g.96059229G>T	ENSP00000379430:p.Lys196Asn					NDUFAF6_ENST00000396111.2_Missense_Mutation_p.K104N|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.K196N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.K44N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.K144N	p.K104N			Q330K2	CH038_HUMAN			12	1362	+			196					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.312G>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618985	0.46736	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000286687;ENST00000519804	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.61	4.73	0.59995	Terpenoid synthase (2);	0.952772	0.08576	N	0.925321	T	0.81969	0.4935	M	0.64170	1.965	0.80722	D	1	P;B;B;B	0.36837	0.571;0.11;0.222;0.277	B;B;B;B	0.39152	0.213;0.139;0.149;0.292	T	0.77024	-0.2741	10	0.62326	D	0.03	-17.6934	7.5476	0.27777	0.2472:0.0:0.7528:0.0	.	44;196;144;164	B4DW83;Q330K2;Q330K2-2;B4DQ45	.;CH038_HUMAN;.;.	N	104;104;104;85;144;196;44;85	ENSP00000428034:K104N;ENSP00000379419:K104N;ENSP00000379417:K104N;ENSP00000429585:K85N;ENSP00000444515:K144N;ENSP00000379430:K196N;ENSP00000286687:K44N;ENSP00000430230:K85N	ENSP00000286687:K44N	K	+	3	2	C8orf38	96128405	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.695000	0.37763	1.367000	0.46095	0.655000	0.94253	AAG		0.368	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		15	24	1	0	1.3612e-06	1	1.41782e-06	15	24				
USP19	10869	broad.mit.edu	37	3	49148431	49148431	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49148431C>T	ENST00000398888.2	-	22	3506	c.3188G>A	c.(3187-3189)tGc>tAc	p.C1063Y	USP19_ENST00000398892.3_Missense_Mutation_p.C1103Y|USP19_ENST00000417901.1_Missense_Mutation_p.C1166Y|USP19_ENST00000398898.2_Missense_Mutation_p.C1103Y|USP19_ENST00000434032.2_Missense_Mutation_p.C1164Y|USP19_ENST00000398896.1_Missense_Mutation_p.C871Y|USP19_ENST00000453664.1_Missense_Mutation_p.C1154Y	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1063	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTTGAGGCACTGGTCCAG	0.612																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3460-3462)tGc>tAc		ubiquitin specific peptidase 19							55.0	65.0	62.0					3																	49148431		2011	4165	6176	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49148431C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3188G>A	3.37:g.49148431C>T	ENSP00000381863:p.Cys1063Tyr					USP19_ENST00000434032.2_Missense_Mutation_p.C1164Y|USP19_ENST00000417901.1_Missense_Mutation_p.C1166Y|USP19_ENST00000398892.3_Missense_Mutation_p.C1103Y|USP19_ENST00000398888.2_Missense_Mutation_p.C1063Y|USP19_ENST00000398896.1_Missense_Mutation_p.C871Y|USP19_ENST00000398898.2_Missense_Mutation_p.C1103Y	p.C1154Y	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	23	3779	-			1063					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3461G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337832	0.81911	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.079988	0.85682	D	0.000000	T	0.75155	0.3811	H	0.97051	3.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;0.998;1.0	D	0.83524	0.0087	10	0.87932	D	0	-17.5838	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1164;1154;1063;1103;871	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	Y	871;1103;1166;1154;1103;1063;1164	ENSP00000381870:C871Y;ENSP00000381872:C1103Y;ENSP00000395260:C1166Y;ENSP00000400090:C1154Y;ENSP00000381867:C1103Y;ENSP00000381863:C1063Y;ENSP00000401197:C1164Y	ENSP00000381863:C1063Y	C	-	2	0	USP19	49123435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.719000	0.84751	2.706000	0.92434	0.655000	0.94253	TGC		0.612	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		13	35	0	0	0	1	0	13	35				
DDX39B	7919	broad.mit.edu	37	6	31508224	31508224	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31508224G>C	ENST00000396172.1	-	2	716	c.86C>G	c.(85-87)gCc>gGc	p.A29G	DDX39B_ENST00000417556.2_Missense_Mutation_p.A29G|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.A29G|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Missense_Mutation_p.A29G|DDX39B_ENST00000458640.1_Missense_Mutation_p.A29G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000415382.2_Missense_Mutation_p.P25A|DDX39B_ENST00000453105.2_Missense_Mutation_p.P25A|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	29					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)			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						CTTGGCAGGGGCCTCAGCCCC	0.572																																						ENST00000417556.2																			0				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						c.(85-87)gCc>gGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							87.0	82.0	84.0					6																	31508224		2203	4300	6503	SO:0001583	missense	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.chr6:31508224G>C	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.86C>G	6.37:g.31508224G>C	ENSP00000379475:p.Ala29Gly					DDX39B_ENST00000396172.1_Missense_Mutation_p.A29G|DDX39B_ENST00000453105.2_Missense_Mutation_p.P25A|DDX39B_ENST00000376177.2_Missense_Mutation_p.A29G|DDX39B_ENST00000458640.1_Missense_Mutation_p.A29G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.P25A|DDX39B_ENST00000449074.2_Missense_Mutation_p.A29G	p.A29G			Q13838	DX39B_HUMAN			2	716	-			29					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.86C>G	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.481766|3.481766	0.63849|0.63849	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215|ENST00000415382;ENST00000431908;ENST00000453105	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T;T	0.46063|0.44482	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|0.92;2.56;3.22	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.224173|.	0.38217|.	N|.	0.001779|.	T|T	0.47948|0.47948	0.1473|0.1473	L|L	0.38175|0.38175	1.15|1.15	0.50467|0.50467	D|D	0.999877|0.999877	B;B;B|D;B;D	0.09022|0.89917	0.001;0.0;0.002|1.0;0.007;0.999	B;B;B|D;B;D	0.08055|0.78314	0.003;0.001;0.003|0.991;0.028;0.979	T|T	0.48917|0.48917	-0.8992|-0.8992	10|9	0.19147|0.62326	T|D	0.46|0.03	-13.377|-13.377	16.9509|16.9509	0.86245|0.86245	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;29;29|25;25;25	Q59G92;Q13838;Q5STU3|B4DIZ8;B4DIJ6;B4DP52	.;DX39B_HUMAN;.|.;.;.	G|A	29;29;29;29;29;29;29;29;29;29;52;29;44;29;29|25	ENSP00000365347:A29G;ENSP00000416269:A29G;ENSP00000379475:A29G;ENSP00000412582:A29G;ENSP00000399371:A29G;ENSP00000392672:A29G;ENSP00000410313:A29G;ENSP00000416350:A29G;ENSP00000391946:A29G;ENSP00000405707:A29G;ENSP00000409426:A52G;ENSP00000393984:A29G;ENSP00000399841:A44G;ENSP00000405245:A29G|ENSP00000392669:P25A;ENSP00000408000:P25A;ENSP00000400328:P25A	ENSP00000365347:A29G|ENSP00000392669:P25A	A|P	-|-	2|1	0|0	DDX39B|DDX39B	31616203|31616203	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.551000|2.551000	0.45820|0.45820	2.592000|2.592000	0.87571|0.87571	0.563000|0.563000	0.77884|0.77884	GCC|CCC		0.572	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		19	50	0	0	0	1	0	19	50				
TAF4	6874	broad.mit.edu	37	20	60581673	60581673	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60581673C>T	ENST00000252996.4	-	7	2115	c.2116G>A	c.(2116-2118)Gcc>Acc	p.A706T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	706					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCTTCCCGGCCGTGCGCTGG	0.721																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2116-2118)Gcc>Acc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							16.0	19.0	18.0					20																	60581673		2197	4282	6479	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581673C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2116G>A	20.37:g.60581673C>T	ENSP00000252996:p.Ala706Thr					TAF4_ENST00000488539.1_5'UTR	p.A706T	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2115	-	Breast(26;1e-08)		706					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2116G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954498	0.73902	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26223	1.76;1.75	5.46	5.46	0.80206	.	0.192215	0.45606	D	0.000353	T	0.45518	0.1346	L	0.47716	1.5	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.09997	-1.0649	10	0.28530	T	0.3	-18.8187	19.2974	0.94128	0.0:1.0:0.0:0.0	.	706	O00268	TAF4_HUMAN	T	706;570	ENSP00000252996:A706T;ENSP00000399091:A570T	ENSP00000252996:A706T	A	-	1	0	TAF4	60015068	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	5.108000	0.64609	2.550000	0.86006	0.563000	0.77884	GCC		0.721	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	9	0	0	0	1	0	5	9				
CECR6	27439	broad.mit.edu	37	22	17600946	17600946	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17600946G>A	ENST00000331437.3	-	1	1197	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Silent_p.L3L	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	358										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGCACCGACAGCGCCATGGTG	0.697																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(1072-1074)Ctg>Ttg		cat eye syndrome chromosome region, candidate 6							39.0	31.0	33.0					22																	17600946		2202	4296	6498	SO:0001819	synonymous_variant	27439							g.chr22:17600946G>A	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1072C>T	22.37:g.17600946G>A						CECR6_ENST00000399875.1_Silent_p.L3L	p.L358L	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1197	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	358					A8MYY1	Silent	SNP	ENST00000331437.3	37	c.1072C>T	CCDS13740.1																																																																																				0.697	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		15	45	0	0	0	1	0	15	45				
ZNF587	84914	broad.mit.edu	37	19	58371214	58371214	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58371214C>T	ENST00000339656.5	+	3	1616	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.S477S	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					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.S478R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATAAGCACAGCGTGACTATAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			1	Substitution - Missense(1)	p.S478R(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1432-1434)agC>agT		zinc finger protein 587							152.0	146.0	148.0					19																	58371214		2203	4300	6503	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371214C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1434C>T	19.37:g.58371214C>T						ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.S477S|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S	p.S478S	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1616	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	478					A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.1434C>T	CCDS12964.1																																																																																				0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		54	92	0	0	0	1	0	54	92				
SLC18A2	6571	broad.mit.edu	37	10	119013558	119013558	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119013558G>T	ENST00000298472.5	+	5	666		c.e5-1		SLC18A2_ENST00000497497.1_Splice_Site	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTCGGCAGTGTTTGCCTT	0.592																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.e5-1		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						148.0	131.0	137.0					10																	119013558		2203	4300	6503	SO:0001630	splice_region_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119013558G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.524-1G>T	10.37:g.119013558G>T						SLC18A2_ENST00000497497.1_Splice_Site		NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	5	666	+		Colorectal(252;0.19)						B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Splice_Site	SNP	ENST00000298472.5	37		CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210592	0.79240	.	.	ENSG00000165646	ENST00000298472	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC18A2	119003548	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.827000	0.99397	2.816000	0.96949	0.563000	0.77884	.		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	Intron	53	69	1	0	1.3268e-25	1	1.48173e-25	53	69				
SPAG17	200162	broad.mit.edu	37	1	118635826	118635826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:118635826G>A	ENST00000336338.5	-	8	1191	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	376						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTAACCACTTGTGGAACATTA	0.398																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1126-1128)Caa>Taa		sperm associated antigen 17							113.0	105.0	108.0					1																	118635826		2203	4300	6503	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635826G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1126C>T	1.37:g.118635826G>A	ENSP00000337804:p.Gln376*						p.Q376*	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1191	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	376					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.1126C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126907	0.77549	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.46	5.46	0.80206	.	1.087270	0.06913	N	0.808028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.7965	0.69881	0.0:0.0:1.0:0.0	.	.	.	.	X	376	.	ENSP00000337804:Q376X	Q	-	1	0	SPAG17	118437349	0.972000	0.33761	0.602000	0.28890	0.174000	0.22865	4.858000	0.62947	2.549000	0.85964	0.591000	0.81541	CAA		0.398	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		34	41	0	0	0	1	0	34	41				
TLE3	7090	broad.mit.edu	37	15	70347431	70347431	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70347431C>T	ENST00000558939.1	-	15	2921	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	TLE3_ENST00000557997.1_Missense_Mutation_p.S507N|TLE3_ENST00000557907.1_Missense_Mutation_p.S507N|TLE3_ENST00000559191.1_Missense_Mutation_p.S96N|TLE3_ENST00000442299.2_Missense_Mutation_p.S507N|TLE3_ENST00000558201.1_Missense_Mutation_p.S521N|TLE3_ENST00000440567.3_Missense_Mutation_p.S505N|TLE3_ENST00000539550.1_Missense_Mutation_p.S442N|TLE3_ENST00000560589.1_Missense_Mutation_p.S459N|TLE3_ENST00000558379.1_Missense_Mutation_p.S510N|TLE3_ENST00000560939.1_Missense_Mutation_p.S517N|TLE3_ENST00000559929.1_Missense_Mutation_p.S525N|TLE3_ENST00000559048.1_Missense_Mutation_p.S515N|TLE3_ENST00000451782.2_Missense_Mutation_p.S512N|TLE3_ENST00000317509.8_Missense_Mutation_p.S503N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	515					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCTGGCTGGCTGATGTCCCA	0.647																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1543-1545)aGc>aAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							43.0	45.0	45.0					15																	70347431		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347431C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1544G>A	15.37:g.70347431C>T	ENSP00000452871:p.Ser515Asn					TLE3_ENST00000442299.2_Missense_Mutation_p.S507N|TLE3_ENST00000560939.1_Missense_Mutation_p.S517N|TLE3_ENST00000559191.1_Missense_Mutation_p.S96N|TLE3_ENST00000559929.1_Missense_Mutation_p.S525N|TLE3_ENST00000560589.1_Missense_Mutation_p.S459N|TLE3_ENST00000317509.8_Missense_Mutation_p.S503N|TLE3_ENST00000558201.1_Missense_Mutation_p.S521N|TLE3_ENST00000557997.1_Missense_Mutation_p.S507N|TLE3_ENST00000539550.1_Missense_Mutation_p.S442N|TLE3_ENST00000557907.1_Missense_Mutation_p.S507N|TLE3_ENST00000558379.1_Missense_Mutation_p.S510N|TLE3_ENST00000440567.3_Missense_Mutation_p.S505N|TLE3_ENST00000559048.1_Missense_Mutation_p.S515N|TLE3_ENST00000451782.2_Missense_Mutation_p.S512N	p.S515N			Q04726	TLE3_HUMAN			15	2921	-			515					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1544G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205019	0.58234	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.54	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046653	0.85682	D	0.000000	T	0.07638	0.0192	N	0.03608	-0.345	0.58432	D	0.999997	B;B;B;B;B;B;B;B	0.29988	0.264;0.008;0.014;0.018;0.003;0.004;0.179;0.003	B;B;B;B;B;B;B;B	0.37989	0.262;0.008;0.025;0.018;0.01;0.005;0.177;0.006	T	0.47420	-0.9119	10	0.40728	T	0.16	-26.9844	16.2284	0.82315	0.0:1.0:0.0:0.0	.	505;512;507;510;503;515;515;442	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	N	507;512;515;505;442;182	ENSP00000390007:S507N;ENSP00000394717:S512N;ENSP00000415057:S505N;ENSP00000442594:S442N	ENSP00000319233:S515N	S	-	2	0	TLE3	68134485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.553000	0.82203	2.352000	0.79861	0.462000	0.41574	AGC		0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		7	14	0	0	0	1	0	7	14				
GRIK1	2897	broad.mit.edu	37	21	30927538	30927538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30927538C>T	ENST00000399907.1	-	16	2853	c.2442G>A	c.(2440-2442)tgG>tgA	p.W814*	GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W799*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W814*|GRIK1_ENST00000399914.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W814*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W816*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W814*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W816*	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	814					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CATTCCCACGCCACCACTTCT	0.483																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2395-2397)tgG>tgA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						96.0	98.0	98.0					21																	30927538		2203	4299	6502	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927538C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2442G>A	21.37:g.30927538C>T	ENSP00000382791:p.Trp814*					GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W799*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W814*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W816*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W814*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W799*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W814*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W816*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W814*	p.W799*			P39086	GRIK1_HUMAN			15	2918	-			814					Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000399907.1	37	c.2397G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	38	6.910232	0.97928	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	.	.	.	X	814;799;814;799;816;675;814;814;799;816	.	ENSP00000311646:W816X	W	-	3	0	GRIK1	29849409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.582000	0.82546	2.549000	0.85964	0.650000	0.86243	TGG		0.483	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			30	19	0	0	0	1	0	30	19				
OR51A4	401666	broad.mit.edu	37	11	4967865	4967865	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4967865G>T	ENST00000380373.2	-	1	491	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAACCAGGAGCATGCTCTTA	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(466-468)Ctc>Atc		olfactory receptor, family 51, subfamily A, member 4							176.0	172.0	173.0					11																	4967865		2192	4270	6462	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967865G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.466C>A	11.37:g.4967865G>T	ENSP00000369731:p.Leu156Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L156I	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	491	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	156						Missense_Mutation	SNP	ENST00000380373.2	37	c.466C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	g	8.380	0.837236	0.16891	.	.	ENSG00000205497	ENST00000380373	T	0.43294	0.95	3.44	-4.21	0.03812	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30070	0.0753	L	0.54323	1.7	0.09310	N	1	B	0.21071	0.051	B	0.30251	0.113	T	0.39563	-0.9608	9	0.21540	T	0.41	.	1.4486	0.02370	0.2388:0.1147:0.4131:0.2333	.	156	Q8NGJ6	O51A4_HUMAN	I	156	ENSP00000369731:L156I	ENSP00000369731:L156I	L	-	1	0	OR51A4	4924441	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-5.362000	0.00128	-0.679000	0.05217	-2.272000	0.00274	CTC		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		92	94	1	0	4.76065e-52	1	5.35449e-52	92	94				
USH2A	7399	broad.mit.edu	37	1	216371664	216371664	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:216371664T>C	ENST00000307340.3	-	18	4460	c.4074A>G	c.(4072-4074)ggA>ggG	p.G1358G	USH2A_ENST00000366942.3_Silent_p.G1358G|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Silent_p.G1358G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1358	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGATTCTCCCGTTCTTT	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(4072-4074)ggA>ggG		Usher syndrome 2A (autosomal recessive, mild)							91.0	89.0	90.0					1																	216371664		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371664T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4074A>G	1.37:g.216371664T>C		HNSCC(13;0.011)				USH2A_ENST00000366942.3_Silent_p.G1358G|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Silent_p.G1358G	p.G1358G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4460	-			1358					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4074A>G	CCDS31025.1																																																																																				0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	56	0	0	0	1	0	36	56				
IGHJ6	28475	broad.mit.edu	37	14	106330039	106330039	+	RNA	SNP	C	C	T	rs371442870	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106330039C>T	ENST00000390560.2	-	0	0				IGHJ3_ENST00000463911.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHD7-27_ENST00000439842.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		GAGACGGTGACCAGGGTTCCC	0.607																																						ENST00000488476.1																			0															C		0,3812		0,0,1906	37.0	44.0	42.0			5.4	0.4	14		42	3,8265		1,1,4132	no	intergenic				1,1,6038	TT,TC,CC		0.0363,0.0,0.0248			106330039	3,12077	1906	4134	6040			0							g.chr14:106330039C>T	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106330039C>T														0	33	-									RNA	SNP	ENST00000390560.2	37																																																																																						0.607	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		7	9	0	0	0	1	0	7	9				
NPHP4	261734	broad.mit.edu	37	1	5965426	5965426	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5965426C>T	ENST00000378156.4	-	15	2146	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	627			T -> M (in SLSN4; dbSNP:rs199891059). {ECO:0000269|PubMed:15776426}.		actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGTTAAACGTCACAGGTT	0.493																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1879-1881)acG>acA		nephronophthisis 4							142.0	141.0	141.0					1																	5965426		1979	4172	6151	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5965426C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1881G>A	1.37:g.5965426C>T						NPHP4_ENST00000478423.2_5'UTR	p.T627T	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	15	2146	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	627		T -> M (in SLSN4).			Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1881G>A	CCDS44052.1																																																																																				0.493	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	138	0	0	0	1	0	4	138				
WDR5	11091	broad.mit.edu	37	9	137023095	137023095	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137023095C>T	ENST00000358625.3	+	14	1156	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	WDR5_ENST00000425041.1_Silent_p.L329L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	329					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AACAATTAAACTGTGGAAGAG	0.493																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(985-987)Ctg>Ttg		WD repeat domain 5							144.0	122.0	129.0					9																	137023095		2203	4300	6503	SO:0001819	synonymous_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137023095C>T	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.985C>T	9.37:g.137023095C>T						WDR5_ENST00000425041.1_Silent_p.L329L	p.L329L	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	14	1156	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	329					Q91VA5|Q9NWX7|Q9UGP9	Silent	SNP	ENST00000358625.3	37	c.985C>T	CCDS6981.1																																																																																				0.493	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		25	37	0	0	0	1	0	25	37				
JAG2	3714	broad.mit.edu	37	14	105615403	105615403	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105615403C>T	ENST00000331782.3	-	14	2180	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	JAG2_ENST00000347004.2_Missense_Mutation_p.A555T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	593	EGF-like 10; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCCCCGCGTCTGACCCG	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1777-1779)Gcg>Acg		jagged 2							12.0	14.0	14.0					14																	105615403		2181	4279	6460	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615403C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1777G>A	14.37:g.105615403C>T	ENSP00000328169:p.Ala593Thr					JAG2_ENST00000347004.2_Missense_Mutation_p.A555T	p.A593T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	14	2180	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	593			EGF-like 10; atypical.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1777G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	0.117	-1.130119	0.01756	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86230	-2.09;-2.09	3.92	3.02	0.34903	Epidermal growth factor-like (1);	0.208400	0.40302	N	0.001133	T	0.72740	0.3498	N	0.16478	0.41	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.09377	0.004;0.002	T	0.54616	-0.8267	10	0.13470	T	0.59	.	8.362	0.32363	0.0:0.8819:0.0:0.1181	.	555;593	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	593;555	ENSP00000328169:A593T;ENSP00000328566:A555T	ENSP00000328169:A593T	A	-	1	0	JAG2	104686448	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.888000	0.28268	0.944000	0.37579	-0.263000	0.10527	GCG		0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			3	5	0	0	0	1	0	3	5				
PDZD2	23037	broad.mit.edu	37	5	32061205	32061205	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32061205G>A	ENST00000438447.1	+	14	2804	c.2416G>A	c.(2416-2418)Gtt>Att	p.V806I	PDZD2_ENST00000282493.3_Missense_Mutation_p.V806I			O15018	PDZD2_HUMAN	PDZ domain containing 2	806	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGACCCGTTCGCCTTGT	0.537																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2416-2418)Gtt>Att		PDZ domain containing 2							94.0	76.0	82.0					5																	32061205		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32061205G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2416G>A	5.37:g.32061205G>A	ENSP00000402033:p.Val806Ile					PDZD2_ENST00000282493.3_Missense_Mutation_p.V806I	p.V806I			O15018	PDZD2_HUMAN			14	2804	+			806			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2416G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448731	0.96205	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.25579	1.79;1.79	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.43110	D	0.000604	T	0.46678	0.1405	L	0.49256	1.55	0.58432	D	0.999998	D;D	0.89917	0.992;1.0	P;D	0.87578	0.636;0.998	T	0.13469	-1.0508	10	0.40728	T	0.16	.	17.4751	0.87657	0.0:0.0:1.0:0.0	.	632;806	B4E3P2;O15018	.;PDZD2_HUMAN	I	806	ENSP00000402033:V806I;ENSP00000282493:V806I	ENSP00000282493:V806I	V	+	1	0	PDZD2	32096962	1.000000	0.71417	0.884000	0.34674	0.975000	0.68041	7.417000	0.80156	2.726000	0.93360	0.655000	0.94253	GTT		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			18	31	0	0	0	1	0	18	31				
IK	3550	broad.mit.edu	37	5	140032579	140032579	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140032579G>A	ENST00000417647.2	+	5	393	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	85					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAGCTACGCCAACAAGAA	0.468																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(253-255)cGc>cAc		IK cytokine, down-regulator of HLA II							62.0	57.0	59.0					5																	140032579		1932	4150	6082	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032579G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.254G>A	5.37:g.140032579G>A	ENSP00000396301:p.Arg85His					IK_ENST00000523672.1_3'UTR	p.R85H	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	393	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	85					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.254G>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279409	0.95489	.	.	ENSG00000113141	ENST00000513256;ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	N	0.08118	0	0.80722	D	1	P;D	0.76494	0.529;0.999	B;D	0.80764	0.04;0.994	T	0.68796	-0.5314	9	0.59425	D	0.04	.	19.9686	0.97276	0.0:0.0:1.0:0.0	.	85;85	Q9UK43;Q13123	.;RED_HUMAN	H	81;85;92;85;85;85	.	ENSP00000261812:R85H	R	+	2	0	IK	140012763	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.795000	0.85887	2.820000	0.97059	0.650000	0.86243	CGC		0.468	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		15	10	0	0	0	1	0	15	10				
C22orf29	79680	broad.mit.edu	37	22	19838799	19838799	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19838799T>C	ENST00000405640.1	-	2	1654	c.986A>G	c.(985-987)gAg>gGg	p.E329G	C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E329G|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E329G			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	329					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CAAAACCTCCTCCTCTGTTTT	0.602																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(985-987)gAg>gGg		chromosome 22 open reading frame 29							47.0	43.0	44.0					22																	19838799		2203	4300	6503	SO:0001583	missense	79680							g.chr22:19838799T>C	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.986A>G	22.37:g.19838799T>C	ENSP00000384924:p.Glu329Gly					GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E329G|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E329G|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron	p.E329G			Q7L3V2	CV029_HUMAN			2	1654	-	Colorectal(54;0.0993)		329					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.986A>G	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588146	0.28268	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.24151	1.87;1.87;1.87	3.1	2.06	0.26882	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.64321	0.924	T	0.07712	-1.0758	9	0.59425	D	0.04	.	4.9196	0.13864	0.0:0.1428:0.0:0.8572	.	329	Q7L3V2	CV029_HUMAN	G	329	ENSP00000386111:E329G;ENSP00000330596:E329G;ENSP00000384924:E329G	ENSP00000330596:E329G	E	-	2	0	C22orf29	18218799	0.012000	0.17670	0.010000	0.14722	0.090000	0.18270	1.896000	0.39789	0.594000	0.29761	0.528000	0.53228	GAG		0.602	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		3	18	0	0	0	1	0	3	18				
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196729521G>A	ENST00000312428.6	-	41	6958	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6856-6858)atC>atT		dynein, axonemal, heavy chain 7							210.0	198.0	202.0					2																	196729521		1896	4119	6015	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729521G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6858C>T	2.37:g.196729521G>A							p.I2286I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6958	-			2286					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.6858C>T	CCDS42794.1																																																																																				0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		41	59	0	0	0	1	0	41	59				
PGC	5225	broad.mit.edu	37	6	41704632	41704632	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41704632G>A	ENST00000373025.3	-	9	1187	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	TFEB_ENST00000403298.4_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000230323.4_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	375					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGCCCAAGTCGTAGACGGAAT	0.612																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(1123-1125)taC>taT		progastricsin (pepsinogen C)							124.0	102.0	109.0					6																	41704632		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704632G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1125C>T	6.37:g.41704632G>A							p.Y375Y	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1187	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		375					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.1125C>T	CCDS4859.1																																																																																				0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			6	18	0	0	0	1	0	6	18				
EDN3	1908	broad.mit.edu	37	20	57899383	57899383	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57899383C>T	ENST00000337938.2	+	5	974				EDN3_ENST00000395654.3_Splice_Site_p.Q182*|EDN3_ENST00000371025.3_Intron|EDN3_ENST00000311585.7_Intron|EDN3_ENST00000371028.2_Intron	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3						blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TTCCCCAAGACAGGTTGAAGT	0.498																																						ENST00000395654.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.e4-1		endothelin 3							83.0	86.0	85.0					20																	57899383		2203	4300	6503	SO:0001627	intron_variant	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57899383C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.589-3C>T	20.37:g.57899383C>T						EDN3_ENST00000371028.2_Intron|EDN3_ENST00000311585.7_Intron|EDN3_ENST00000371025.3_Intron|EDN3_ENST00000337938.2_Intron	p.Q182_splice	NM_207033.1	NP_996916.1	P14138	EDN3_HUMAN			4	654	+	all_lung(29;0.0115)		196					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Splice_Site	SNP	ENST00000337938.2	37	c.542_splice	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842047	0.32513	.	.	ENSG00000124205	ENST00000395654	.	.	.	4.78	-5.11	0.02901	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.1787	0.59642	0.0:0.6355:0.0:0.3645	.	.	.	.	X	182	.	ENSP00000379015:Q182X	Q	+	1	0	EDN3	57332778	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.751000	0.01821	-1.150000	0.02840	-1.021000	0.02439	CAG		0.498	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		6	73	0	0	0	1	0	6	73				
C2	717	broad.mit.edu	37	6	31910873	31910873	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31910873C>T	ENST00000299367.5	+	10	1633	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	CFB_ENST00000425368.2_5'Flank|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Silent_p.L300L|CFB_ENST00000556679.1_Silent_p.L300L|C2_ENST00000442278.2_Silent_p.L321L|C2_ENST00000469372.1_Silent_p.L207L|C2_ENST00000452323.2_Silent_p.L239L	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	453					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGAACATATGCTGGGTGAGTG	0.572																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(898-900)Ctg>Ttg		complement factor B							240.0	255.0	250.0					6																	31910873		1511	2708	4219	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31910873C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1357C>T	6.37:g.31910873C>T						C2_ENST00000452323.2_Silent_p.L239L|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.L453L|C2_ENST00000469372.1_Silent_p.L207L|C2_ENST00000442278.2_Silent_p.L321L|CFB_ENST00000556679.1_Silent_p.L300L	p.L300L			P00751	CFAB_HUMAN			7	953	+			469	V -> L (in Ref. 10; AAA36225).		VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.898C>T	CCDS4728.1																																																																																				0.572	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			27	136	0	0	0	1	0	27	136				
ATP2B1	490	broad.mit.edu	37	12	90036015	90036015	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:90036015A>G	ENST00000428670.3	-	3	782	c.326T>C	c.(325-327)gTc>gCc	p.V109A	ATP2B1_ENST00000261173.2_Missense_Mutation_p.V109A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.V109A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.V109A			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	109					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AATTAAAGTGACATCTTGTAA	0.358																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(325-327)gTc>gCc		ATPase, Ca++ transporting, plasma membrane 1							175.0	203.0	193.0					12																	90036015		2203	4299	6502	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90036015A>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.326T>C	12.37:g.90036015A>G	ENSP00000392043:p.Val109Ala					ATP2B1_ENST00000261173.2_Missense_Mutation_p.V109A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.V109A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.V109A	p.V109A			P20020	AT2B1_HUMAN			3	782	-			109					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.326T>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590588	0.86851	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.55017	1.72	0.80722	D	1	P;B	0.50443	0.935;0.304	P;B	0.50708	0.648;0.289	T	0.79822	-0.1641	9	.	.	.	-26.8486	16.0785	0.80982	1.0:0.0:0.0:0.0	.	109;109	P20020-3;P20020-2	.;.	A	109	ENSP00000261173:V109A;ENSP00000343599:V109A;ENSP00000352054:V109A;ENSP00000392043:V109A	.	V	-	2	0	ATP2B1	88560146	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.287000	0.95975	2.200000	0.70718	0.379000	0.24179	GTC		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		50	162	0	0	0	1	0	50	162				
FANCA	2175	broad.mit.edu	37	16	89805299	89805299	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89805299G>A	ENST00000389301.3	-	42	4281	c.4251C>T	c.(4249-4251)caC>caT	p.H1417H	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.R1419C	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1417			H -> D (in FA; dbSNP:rs17227403). {ECO:0000269|PubMed:9371798}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGCCACGTGTGAGAAGC	0.532			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000568369.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(4255-4257)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							80.0	80.0	80.0					16																	89805299		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89805299G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4251C>T	16.37:g.89805299G>A						FANCA_ENST00000389301.3_Silent_p.H1417H|ZNF276_ENST00000289816.5_3'UTR	p.R1419C			O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	42	4285	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	0					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.4255C>T	CCDS32515.1																																																																																				0.532	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			6	87	0	0	0	1	0	6	87				
TRNT1	51095	broad.mit.edu	37	3	3178985	3178985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3178985G>T	ENST00000251607.6	+	3	292	c.190G>T	c.(190-192)Gga>Tga	p.G64*	TRNT1_ENST00000280591.6_Nonsense_Mutation_p.G64*	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	64					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AATAGCAGGAGGAGCAGTGAG	0.363																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(190-192)Gga>Tga		tRNA nucleotidyl transferase, CCA-adding, 1							70.0	68.0	69.0					3																	3178985		2203	4300	6503	SO:0001587	stop_gained	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3178985G>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.190G>T	3.37:g.3178985G>T	ENSP00000251607:p.Gly64*					TRNT1_ENST00000280591.6_Nonsense_Mutation_p.G64*	p.G64*	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	3	292	+			64					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Nonsense_Mutation	SNP	ENST00000251607.6	37	c.190G>T	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007891	0.93287	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.841	18.8582	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000251607:G64X	G	+	1	0	TRNT1	3153985	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	9.604000	0.98317	2.447000	0.82792	0.655000	0.94253	GGA		0.363	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			7	14	1	0	2.7689e-08	1	2.91998e-08	7	14				
SH3GLB2	56904	broad.mit.edu	37	9	131777084	131777084	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131777084C>T	ENST00000372564.3	-	4	579	c.434G>A	c.(433-435)cGc>cAc	p.R145H	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.R145H|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.R145H	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	145	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CAGGAAGTTGCGCAAGGGTGT	0.572																																						ENST00000372564.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(433-435)cGc>cAc		SH3-domain GRB2-like endophilin B2							101.0	104.0	103.0					9																	131777084		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131777084C>T	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.434G>A	9.37:g.131777084C>T	ENSP00000361645:p.Arg145His					SH3GLB2_ENST00000372554.4_Missense_Mutation_p.R145H|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.R145H|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.R145H	p.R145H	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			4	579	-			145			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.434G>A	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660689	0.96734	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.57	5.57	0.84162	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.77070	-0.2724	10	0.33940	T	0.23	-1.1613	18.8971	0.92427	0.0:1.0:0.0:0.0	.	145;145	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	H	145	ENSP00000361645:R145H;ENSP00000361640:R145H;ENSP00000361634:R145H;ENSP00000402566:R145H;ENSP00000388282:R145H	ENSP00000361634:R145H	R	-	2	0	SH3GLB2	130816905	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.499000	0.81566	2.785000	0.95823	0.655000	0.94253	CGC		0.572	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			31	60	0	0	0	1	0	31	60				
HIF1A	3091	broad.mit.edu	37	14	62207832	62207832	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:62207832A>G	ENST00000337138.4	+	12	2284	c.2019A>G	c.(2017-2019)ggA>ggG	p.G673G	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Silent_p.G614G|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.G697G|HIF1A_ENST00000394997.1_Silent_p.G674G|HIF1A_ENST00000323441.6_Silent_p.G673G	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	673	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ACAGAGCAGGAAAAGGAGTCA	0.398																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(2020-2022)ggA>ggG		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							100.0	94.0	96.0					14																	62207832		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207832A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2019A>G	14.37:g.62207832A>G						HIF1A_ENST00000323441.6_Silent_p.G673G|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000539097.1_Silent_p.G697G|HIF1A_ENST00000337138.4_Silent_p.G673G|HIF1A_ENST00000557538.1_Silent_p.G614G|HIF1A-AS2_ENST00000554254.1_lincRNA	p.G674G			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2287	+			673			ID.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.2022A>G	CCDS9753.1																																																																																				0.398	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		22	36	0	0	0	1	0	22	36				
DLC1	10395	broad.mit.edu	37	8	12957581	12957581	+	Silent	SNP	C	C	T	rs138749997	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12957581C>T	ENST00000276297.4	-	9	2674	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_ENST00000520226.1_Silent_p.T244T|DLC1_ENST00000358919.2_Silent_p.T318T|DLC1_ENST00000512044.2_Silent_p.T352T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	755	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2263-2265)acG>acA		deleted in liver cancer 1							55.0	49.0	51.0					8																	12957581		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957581C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2265G>A	8.37:g.12957581C>T						DLC1_ENST00000512044.2_Silent_p.T352T|DLC1_ENST00000520226.1_Silent_p.T244T|DLC1_ENST00000358919.2_Silent_p.T318T	p.T755T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2674	-			755					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2265G>A	CCDS5989.1																																																																																				0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	28	0	0	0	1	0	8	28				
FCHO1	23149	broad.mit.edu	37	19	17893965	17893965	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17893965G>A	ENST00000596536.1	+	24	2360	c.2077G>A	c.(2077-2079)Gcc>Acc	p.A693T	FCHO1_ENST00000539407.1_Missense_Mutation_p.A693T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693T|FCHO1_ENST00000594202.1_Missense_Mutation_p.A693T|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700T	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	693	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCAGCCCAACGCCGATCTGCT	0.617																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2077-2079)Gcc>Acc		FCH domain only 1							99.0	73.0	82.0					19																	17893965		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17893965G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2077G>A	19.37:g.17893965G>A	ENSP00000470731:p.Ala693Thr					FCHO1_ENST00000596536.1_Missense_Mutation_p.A693T|FCHO1_ENST00000539407.1_Missense_Mutation_p.A693T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A693T|FCHO1_ENST00000597512.1_Missense_Mutation_p.A700T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A693T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A693T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A693T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A643T	p.A693T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			24	2356	+			693					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2077G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629085	0.14257	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.42513	0.97;0.97;0.97	3.84	-1.18	0.09617	Muniscin C-terminal mu homology domain (1);	0.527792	0.18809	N	0.130573	T	0.23370	0.0565	L	0.39898	1.24	0.21256	N	0.999748	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.004	T	0.16600	-1.0397	10	0.12766	T	0.61	-3.4352	3.2945	0.06961	0.3097:0.0:0.3669:0.3234	.	693;693	O14526;O14526-2	FCHO1_HUMAN;.	T	693	ENSP00000252771:A693T;ENSP00000373785:A693T;ENSP00000437978:A693T	ENSP00000252771:A693T	A	+	1	0	FCHO1	17754965	0.067000	0.21026	0.611000	0.29010	0.047000	0.14425	0.683000	0.25349	-0.064000	0.13043	0.305000	0.20034	GCC		0.617	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		7	15	0	0	0	1	0	7	15				
RSAD2	91543	broad.mit.edu	37	2	7018222	7018222	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:7018222C>A	ENST00000382040.3	+	1	427	c.291C>A	c.(289-291)tcC>tcA	p.S97S	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCAAAACATCCTTTGTGCTGC	0.507																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(289-291)tcC>tcA		radical S-adenosyl methionine domain containing 2							114.0	101.0	106.0					2																	7018222		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018222C>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.291C>A	2.37:g.7018222C>A							p.S97S	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	427	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		97						Silent	SNP	ENST00000382040.3	37	c.291C>A	CCDS1656.1																																																																																				0.507	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		12	23	1	0	0.00010058	1	0.000103117	12	23				
PNPLA8	50640	broad.mit.edu	37	7	108155563	108155563	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:108155563G>A	ENST00000422087.1	-	4	779	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	PNPLA8_ENST00000453144.1_Missense_Mutation_p.R25C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R125C|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R125C|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R125C	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	125					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGAGCTAAACGTGAAATCATT	0.338																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(373-375)Cgt>Tgt		patatin-like phospholipase domain containing 8							56.0	60.0	58.0					7																	108155563		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155563G>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.373C>T	7.37:g.108155563G>A	ENSP00000410804:p.Arg125Cys					PNPLA8_ENST00000453144.1_Missense_Mutation_p.R25C|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R125C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R125C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R125C	p.R125C	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	498	-			125					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.373C>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356068	0.41700	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98777	-3.97;-5.13;-3.96;-5.13;-5.05;-5.13;-5.04	5.78	4.91	0.64330	.	0.172969	0.51477	N	0.000085	D	0.97368	0.9139	M	0.63843	1.955	0.53005	D	0.999961	B	0.21225	0.053	B	0.16289	0.015	D	0.95906	0.8919	10	0.62326	D	0.03	.	14.8785	0.70513	0.0688:0.0:0.9311:0.0	.	125	Q9NP80	PLPL8_HUMAN	C	125;125;125;125;25;125;25;125	ENSP00000394988:R125C;ENSP00000257694:R125C;ENSP00000373380:R125C;ENSP00000410804:R125C;ENSP00000387789:R25C;ENSP00000406779:R125C;ENSP00000402274:R25C	ENSP00000257694:R125C	R	-	1	0	PNPLA8	107942799	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.950000	0.56676	1.457000	0.47850	0.591000	0.81541	CGT		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		28	43	0	0	0	1	0	28	43				
ITGA11	22801	broad.mit.edu	37	15	68628055	68628055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68628055G>A	ENST00000315757.7	-	12	1491	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	ITGA11_ENST00000423218.2_Nonsense_Mutation_p.Q469*	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	469					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CGCATAGCCTGGTGGATGGTG	0.637																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(1405-1407)Cag>Tag		integrin, alpha 11	Tirofiban(DB00775)						30.0	37.0	35.0					15																	68628055		2042	4186	6228	SO:0001587	stop_gained	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68628055G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1405C>T	15.37:g.68628055G>A	ENSP00000327290:p.Gln469*					ITGA11_ENST00000315757.7_Nonsense_Mutation_p.Q469*	p.Q469*			Q9UKX5	ITA11_HUMAN			12	1500	-			469					J3KQM2|Q8WYI8|Q9UKQ1	Nonsense_Mutation	SNP	ENST00000315757.7	37	c.1405C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	40	7.960839	0.98583	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	.	.	.	5.77	5.77	0.91146	.	0.108809	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.9796	0.92751	0.0:0.0:1.0:0.0	.	.	.	.	X	469;469;104;469	.	ENSP00000327290:Q469X	Q	-	1	0	ITGA11	66415109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.596000	0.74113	2.723000	0.93209	0.655000	0.94253	CAG		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	9	0	0	0	1	0	10	9				
ATP2B4	493	broad.mit.edu	37	1	203680202	203680202	+	Missense_Mutation	SNP	C	C	T	rs556425707		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203680202C>T	ENST00000357681.5	+	12	3120	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	666					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTATCGCGGTGGTGGGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21282	0.0		0.0	False		,,,				2504	0.001					ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1996-1998)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 4							97.0	85.0	89.0					1																	203680202		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680202C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1997C>T	1.37:g.203680202C>T	ENSP00000350310:p.Ala666Val					ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666V	p.A666V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	3120	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		666					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1997C>T	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602215	0.66445	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.35	3.38	0.38709	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.603831	0.14938	N	0.289674	D	0.83440	0.5255	M	0.85859	2.78	0.09310	N	0.999991	D;P;D	0.89917	0.998;0.867;1.0	D;B;D	0.69479	0.93;0.384;0.964	T	0.73202	-0.4057	10	0.87932	D	0	-5.8825	10.7214	0.46042	0.0:0.7095:0.2168:0.0737	.	666;666;666	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	666;666;654;666;666	ENSP00000350310:A666V;ENSP00000356187:A666V;ENSP00000356188:A654V;ENSP00000375816:A666V;ENSP00000340930:A666V	ENSP00000340930:A666V	A	+	2	0	ATP2B4	201946825	0.000000	0.05858	0.262000	0.24481	0.880000	0.50808	1.006000	0.29847	1.386000	0.46466	0.655000	0.94253	GCG		0.557	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	31	0	0	0	1	0	25	31				
ZNF585A	199704	broad.mit.edu	37	19	37644232	37644232	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37644232T>C	ENST00000356958.4	-	5	827	c.569A>G	c.(568-570)gAa>gGa	p.E190G	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E135G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCACATTCATTGCATTT	0.408																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(568-570)gAa>gGa		zinc finger protein 585A							111.0	106.0	108.0					19																	37644232		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644232T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.569A>G	19.37:g.37644232T>C	ENSP00000349440:p.Glu190Gly					ZNF585A_ENST00000355533.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E135G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E135G|ZNF585A_ENST00000588723.1_Intron	p.E190G			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	827	-			190					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	T	9.493	1.101307	0.20632	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.410581	0.17875	N	0.159067	T	0.18215	0.0437	L	0.48218	1.51	0.24090	N	0.995914	B	0.15141	0.012	B	0.28232	0.087	T	0.19095	-1.0316	10	0.62326	D	0.03	.	11.057	0.47925	0.0:0.0:0.0:1.0	.	190	Q6P3V2	Z585A_HUMAN	G	190;135;135;135	ENSP00000349440:E190G;ENSP00000292841:E135G;ENSP00000375998:E135G;ENSP00000347724:E135G	ENSP00000292841:E135G	E	-	2	0	ZNF585A	42336072	0.005000	0.15991	0.292000	0.24919	0.662000	0.39071	1.619000	0.36965	1.498000	0.48600	0.459000	0.35465	GAA		0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		24	112	0	0	0	1	0	24	112				
FAAH	2166	broad.mit.edu	37	1	46874155	46874155	+	Missense_Mutation	SNP	C	C	T	rs200449828		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46874155C>T	ENST00000243167.8	+	8	1060	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	326					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCAGCCCCTGCGTGTGGGGTA	0.602																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(976-978)Cgt>Tgt		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						194.0	202.0	199.0					1																	46874155		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46874155C>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.976C>T	1.37:g.46874155C>T	ENSP00000243167:p.Arg326Cys					FAAH_ENST00000493735.1_3'UTR	p.R326C	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN			8	1060	+	Acute lymphoblastic leukemia(166;0.155)		326					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.976C>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233549	0.79688	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.72282	-0.64	5.4	4.47	0.54385	Amidase signature domain (2);	0.057091	0.64402	D	0.000002	D	0.85771	0.5774	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88545	0.3112	10	0.87932	D	0	-13.5191	15.323	0.74139	0.1409:0.8591:0.0:0.0	.	326	O00519	FAAH1_HUMAN	C	326;33	ENSP00000243167:R326C	ENSP00000243167:R326C	R	+	1	0	FAAH	46646742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.958000	0.49145	1.250000	0.43966	0.655000	0.94253	CGT		0.602	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		95	147	0	0	0	1	0	95	147				
FAT4	79633	broad.mit.edu	37	4	126241422	126241422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126241422C>T	ENST00000394329.3	+	1	3869	c.3856C>T	c.(3856-3858)Caa>Taa	p.Q1286*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1286	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTGTAATTCAAGCAGTGGA	0.373																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3856-3858)Caa>Taa		FAT atypical cadherin 4							93.0	85.0	88.0					4																	126241422		1883	4109	5992	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241422C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3856C>T	4.37:g.126241422C>T	ENSP00000377862:p.Gln1286*						p.Q1286*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3869	+			1286			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.3856C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	42	9.412131	0.99163	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.81	3.96	0.45880	.	0.000000	0.33419	U	0.004930	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.272	0.73708	0.0:0.8594:0.1406:0.0	.	.	.	.	X	1286	.	ENSP00000377862:Q1286X	Q	+	1	0	FAT4	126460872	1.000000	0.71417	0.899000	0.35326	0.965000	0.64279	2.207000	0.42788	1.251000	0.43983	-0.264000	0.10439	CAA		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		25	50	0	0	0	1	0	25	50				
BMP2	650	broad.mit.edu	37	20	6750939	6750939	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:6750939C>T	ENST00000378827.4	+	2	1385	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	56					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GTTCGAGTTGCGGCTGCTCAG	0.667																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(166-168)Cgg>Tgg		bone morphogenetic protein 2	Simvastatin(DB00641)						20.0	22.0	21.0					20																	6750939		2203	4295	6498	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6750939C>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.166C>T	20.37:g.6750939C>T	ENSP00000368104:p.Arg56Trp						p.R56W	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1385	+			56						Missense_Mutation	SNP	ENST00000378827.4	37	c.166C>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081631	0.94050	.	.	ENSG00000125845	ENST00000378827	T	0.67345	-0.26	5.14	4.17	0.49024	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.85945	2.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.85606	0.1255	10	0.66056	D	0.02	.	14.5229	0.67867	0.1525:0.8475:0.0:0.0	.	56	P12643	BMP2_HUMAN	W	56	ENSP00000368104:R56W	ENSP00000368104:R56W	R	+	1	2	BMP2	6698939	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.679000	0.37597	1.215000	0.43411	0.557000	0.71058	CGG		0.667	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			6	12	0	0	0	1	0	6	12				
PLXNB3	5365	broad.mit.edu	37	X	153043066	153043066	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153043066G>A	ENST00000361971.5	+	31	5298	c.5184G>A	c.(5182-5184)ctG>ctA	p.L1728L	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.L1381L|PLXNB3_ENST00000538966.1_Silent_p.L1751L|PLXNB3_ENST00000485980.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1728					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGTACCTGTTTGACCTTC	0.602																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(5251-5253)ctG>ctA		plexin B3							209.0	158.0	175.0					X																	153043066		2203	4300	6503	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043066G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5184G>A	X.37:g.153043066G>A						PLXNB3_ENST00000361971.5_Silent_p.L1728L|PLXNB3_ENST00000538776.1_Silent_p.L1381L|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR	p.L1751L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			32	5524	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1728					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.5253G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	1.434	-0.569454	0.03910	.	.	ENSG00000198753	ENST00000448847	.	.	.	4.7	2.85	0.33270	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	.	1.7654	0.03001	0.2066:0.157:0.4737:0.1627	.	.	.	.	Y	32	.	.	C	+	2	0	PLXNB3	152696260	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	0.996000	0.29719	0.874000	0.35823	0.529000	0.55759	TGT		0.602	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			47	5	0	0	0	1	0	47	5				
KIAA0556	23247	broad.mit.edu	37	16	27761475	27761475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27761475C>T	ENST00000261588.4	+	16	3213	c.3194C>T	c.(3193-3195)aCg>aTg	p.T1065M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1065						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1065M(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATTGACTTCACGCACCCTTGC	0.537																																						ENST00000261588.4																			2	Substitution - Missense(2)	p.T1065M(2)	ovary(2)	breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3193-3195)aCg>aTg		KIAA0556							99.0	89.0	92.0					16																	27761475		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761475C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3194C>T	16.37:g.27761475C>T	ENSP00000261588:p.Thr1065Met						p.T1065M	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	3213	+			1065					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3194C>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	c	5.055	0.195815	0.09599	.	.	ENSG00000047578	ENST00000261588	T	0.13901	2.55	5.32	-10.4	0.00318	.	1.269500	0.05103	N	0.487448	T	0.09818	0.0241	L	0.40543	1.245	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.27706	-1.0066	10	0.46703	T	0.11	-3.206	9.0779	0.36534	0.1543:0.2942:0.0:0.5515	.	1065	O60303	K0556_HUMAN	M	1065	ENSP00000261588:T1065M	ENSP00000261588:T1065M	T	+	2	0	KIAA0556	27668976	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.514000	0.06298	-2.123000	0.00823	-0.739000	0.03532	ACG		0.537	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		16	19	0	0	0	1	0	16	19				
CC2D1A	54862	broad.mit.edu	37	19	14037354	14037354	+	Silent	SNP	C	C	T	rs368063676		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14037354C>T	ENST00000318003.7	+	18	2206	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N	CC2D1A_ENST00000589606.1_Silent_p.N655N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	655	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCAGCAGCAACGACATGCTCC	0.642																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1963-1965)aaC>aaT		coiled-coil and C2 domain containing 1A		C		2,4166		0,2,2082	58.0	59.0	59.0		1965	-4.5	1.0	19		59	1,8429		0,1,4214	no	coding-synonymous	CC2D1A	NM_017721.4		0,3,6296	TT,TC,CC		0.0119,0.048,0.0238		655/952	14037354	3,12595	2084	4215	6299	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14037354C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1965C>T	19.37:g.14037354C>T						CC2D1A_ENST00000589606.1_Silent_p.N655N	p.N655N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		18	2206	+			655			C2.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.1965C>T	CCDS42512.1																																																																																				0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	23	0	0	0	1	0	8	23				
MYH3	4621	broad.mit.edu	37	17	10539137	10539137	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10539137C>T	ENST00000583535.1	-	29	3977	c.3890G>A	c.(3889-3891)aGc>aAc	p.S1297N	MYH3_ENST00000226209.7_Missense_Mutation_p.S1297N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1297					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGATACTATGCTTTCTTTTTC	0.433																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(3889-3891)aGc>aAc		myosin, heavy chain 3, skeletal muscle, embryonic							184.0	181.0	182.0					17																	10539137		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10539137C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3890G>A	17.37:g.10539137C>T	ENSP00000464317:p.Ser1297Asn					MYH3_ENST00000226209.7_Missense_Mutation_p.S1297N	p.S1297N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			29	3977	-			1297					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3890G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693764	0.48202	.	.	ENSG00000109063	ENST00000226209	D	0.83335	-1.71	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	D	0.85044	0.5607	M	0.81112	2.525	0.23806	N	0.996795	B	0.18166	0.026	B	0.27715	0.082	T	0.76225	-0.3037	9	0.49607	T	0.09	.	14.7739	0.69703	0.0:0.7398:0.2602:0.0	.	1297	P11055	MYH3_HUMAN	N	1297	ENSP00000226209:S1297N	ENSP00000226209:S1297N	S	-	2	0	MYH3	10479862	0.701000	0.27806	1.000000	0.80357	0.933000	0.57130	4.636000	0.61339	2.813000	0.96785	0.655000	0.94253	AGC		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		59	100	0	0	0	1	0	59	100				
FIP1L1	81608	broad.mit.edu	37	4	54256787	54256787	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:54256787G>A	ENST00000337488.6	+	7	691	c.497G>A	c.(496-498)cGt>cAt	p.R166H	FIP1L1_ENST00000306932.6_Missense_Mutation_p.R151H|FIP1L1_ENST00000507166.1_Missense_Mutation_p.R166H|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R151H|FIP1L1_ENST00000507922.1_Missense_Mutation_p.R151H	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	166	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAACCATGGCGTAAACCTGGT	0.318			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000507166.1				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(496-498)cGt>cAt		factor interacting with PAPOLA and CPSF1							88.0	88.0	88.0					4																	54256787		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54256787G>A	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.497G>A	4.37:g.54256787G>A	ENSP00000336752:p.Arg166His					FIP1L1_ENST00000507922.1_Missense_Mutation_p.R151H|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R151H|FIP1L1_ENST00000337488.6_Missense_Mutation_p.R166H|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R151H	p.R166H			Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		7	497	+			166			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.497G>A	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627729	0.87560	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	D	0.85773	-2.03	5.43	5.43	0.79202	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.64402	D	0.000003	D	0.94693	0.8288	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.989;1.0;0.999	D	0.95724	0.8769	9	.	.	.	-11.8379	19.2217	0.93799	0.0:0.0:1.0:0.0	.	151;151;166;151	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	H	166;151;151;151;166	ENSP00000423325:R166H	.	R	+	2	0	FIP1L1	53951544	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.429000	0.97481	2.534000	0.85438	0.591000	0.81541	CGT		0.318	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		18	30	0	0	0	1	0	18	30				
ANXA4	307	broad.mit.edu	37	2	70047882	70047882	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70047882G>T	ENST00000394295.4	+	12	1083	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	ANXA4_ENST00000536030.1_Nonsense_Mutation_p.E195*|ANXA4_ENST00000409920.1_Nonsense_Mutation_p.E257*	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	277					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TTCTCGAGCAGAAATTGACAT	0.438																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(835-837)Gaa>Taa		annexin A4							157.0	146.0	150.0					2																	70047882		2203	4300	6503	SO:0001587	stop_gained	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70047882G>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.835G>T	2.37:g.70047882G>T	ENSP00000377833:p.Glu279*					ANXA4_ENST00000409920.1_Nonsense_Mutation_p.E257*|ANXA4_ENST00000536030.1_Nonsense_Mutation_p.E195*	p.E279*	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			12	1083	+			277					B4DDF9|Q96F33|Q9BWK1	Nonsense_Mutation	SNP	ENST00000394295.4	37	c.835G>T	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.708238	0.98444	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	.	.	.	5.85	5.85	0.93711	.	0.045721	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6514	0.88165	0.0:0.0:1.0:0.0	.	.	.	.	X	257;279;195	.	.	E	+	1	0	ANXA4	69901386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.405000	0.97313	2.773000	0.95371	0.650000	0.86243	GAA		0.438	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		43	50	1	0	7.88023e-25	1	8.79368e-25	43	50				
CADPS	8618	broad.mit.edu	37	3	62518602	62518602	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62518602G>A	ENST00000383710.4	-	13	2584	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	CADPS_ENST00000357948.3_Silent_p.D728D|CADPS_ENST00000283269.9_Silent_p.D745D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	745					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAGGGTGGGGTCGATCATGG	0.522																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2233-2235)gaC>gaT		Ca++-dependent secretion activator							148.0	126.0	134.0					3																	62518602		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62518602G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2235C>T	3.37:g.62518602G>A						CADPS_ENST00000283269.9_Silent_p.D745D|CADPS_ENST00000357948.3_Silent_p.D728D	p.D745D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	13	2584	-		Lung SC(41;0.0452)	745					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.2235C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.253505|1.253505	0.22965|0.22965	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000468271;ENST00000478434	.|.	.|.	.|.	5.77|5.77	4.9|4.9	0.64082|0.64082	.|.	.|.	.|.	.|.	.|.	T|T	0.70762|0.70762	0.3261|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70185|0.70185	-0.4941|-0.4941	4|4	.|.	.|.	.|.	.|.	15.0108|15.0108	0.71547|0.71547	0.0686:0.0:0.9314:0.0|0.0686:0.0:0.9314:0.0	.|.	.|.	.|.	.|.	S|I	52|90;176	.|.	.|.	P|T	-|-	1|2	0|0	CADPS|CADPS	62493642|62493642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.971000|2.971000	0.49248|0.49248	1.444000|1.444000	0.47605|0.47605	0.557000|0.557000	0.71058|0.71058	CCC|ACC		0.522	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		6	44	0	0	0	1	0	6	44				
CPSF1	29894	broad.mit.edu	37	8	145622732	145622732	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145622732G>A	ENST00000349769.3	-	22	2449	c.2355C>T	c.(2353-2355)tgC>tgT	p.C785C	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	785					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCACCAGCAGGCACCAGTGGG	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2353-2355)tgC>tgT		cleavage and polyadenylation specific factor 1, 160kDa							30.0	34.0	33.0					8																	145622732		2202	4298	6500	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622732G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2355C>T	8.37:g.145622732G>A							p.C785C	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2449	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		785					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.2355C>T	CCDS34966.1																																																																																				0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		7	12	0	0	0	1	0	7	12				
CHD2	1106	broad.mit.edu	37	15	93567736	93567736	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93567736G>A	ENST00000394196.4	+	39	6356	c.5288G>A	c.(5287-5289)cGc>cAc	p.R1763H		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1763					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACCATTACCGCTCTTTCCAC	0.527																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5287-5289)cGc>cAc		chromodomain helicase DNA binding protein 2							86.0	91.0	90.0					15																	93567736		1916	4130	6046	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567736G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5288G>A	15.37:g.93567736G>A	ENSP00000377747:p.Arg1763His						p.R1763H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	6356	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1763					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5288G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304124	0.81136	.	.	ENSG00000173575	ENST00000394196	D	0.90732	-2.72	5.74	5.74	0.90152	.	.	.	.	.	D	0.91126	0.7206	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89686	0.3894	9	0.28530	T	0.3	-9.9313	20.2982	0.98569	0.0:0.0:1.0:0.0	.	1763	O14647	CHD2_HUMAN	H	1763	ENSP00000377747:R1763H	ENSP00000377747:R1763H	R	+	2	0	CHD2	91368740	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.881000	0.92415	2.873000	0.98535	0.563000	0.77884	CGC		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	36	0	0	0	1	0	12	36				
LRP5	4041	broad.mit.edu	37	11	68205926	68205926	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68205926C>T	ENST00000294304.7	+	20	4230	c.4124C>T	c.(4123-4125)cCg>cTg	p.P1375L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1375					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACCAAGCCGCCCTCAGAC	0.592																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4123-4125)cCg>cTg		low density lipoprotein receptor-related protein 5							90.0	94.0	93.0					11																	68205926		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68205926C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4124C>T	11.37:g.68205926C>T	ENSP00000294304:p.Pro1375Leu						p.P1375L	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			20	4230	+			1375					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4124C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588492	0.28357	.	.	ENSG00000162337	ENST00000294304	D	0.94046	-3.34	4.53	2.62	0.31277	.	0.129483	0.33217	N	0.005145	D	0.89570	0.6753	M	0.72353	2.195	0.46564	D	0.999102	B;B	0.26041	0.14;0.14	B;B	0.14023	0.01;0.01	T	0.81765	-0.0783	10	0.10636	T	0.68	.	9.9753	0.41779	0.0:0.8314:0.0:0.1686	.	1375;1375	Q9UES7;O75197	.;LRP5_HUMAN	L	1375	ENSP00000294304:P1375L	ENSP00000294304:P1375L	P	+	2	0	LRP5	67962502	0.987000	0.35691	0.556000	0.28293	0.085000	0.17905	2.856000	0.48341	0.528000	0.28580	0.585000	0.79938	CCG		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		14	34	0	0	0	1	0	14	34				
CEBPE	1053	broad.mit.edu	37	14	23586748	23586748	+	Missense_Mutation	SNP	C	C	T	rs199967428		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23586748C>T	ENST00000206513.5	-	2	1318	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	265	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGAATCTGGCGGAAGAGGTT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15887	0.0		0.001	False		,,,				2504	0.0				NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(793-795)cGc>cAc		CCAAT/enhancer binding protein (C/EBP), epsilon							50.0	39.0	43.0					14																	23586748		2203	4300	6503	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23586748C>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.794G>A	14.37:g.23586748C>T	ENSP00000206513:p.Arg265His						p.R265H	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	2	1318	-	all_cancers(95;4.6e-05)		265			Leucine-zipper.		Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.794G>A	CCDS9589.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.0	4.589588	0.86851	.	.	ENSG00000092067	ENST00000206513	T	0.42900	0.96	5.49	5.49	0.81192	Basic-leucine zipper (bZIP) transcription factor (2);	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.46157	1.445	0.45567	D	0.998518	D	0.76494	0.999	D	0.64506	0.926	T	0.59332	-0.7474	10	0.72032	D	0.01	-23.6527	18.1405	0.89638	0.0:1.0:0.0:0.0	.	265	Q15744	CEBPE_HUMAN	H	265	ENSP00000206513:R265H	ENSP00000206513:R265H	R	-	2	0	CEBPE	22656588	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	1.635000	0.37134	2.578000	0.87016	0.655000	0.94253	CGC		0.647	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		7	10	0	0	0	1	0	7	10				
HMOX1	3162	broad.mit.edu	37	22	35782930	35782930	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35782930G>A	ENST00000216117.8	+	3	736	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	133					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GGTGGCCCACGCCTACACCCG	0.662																																						ENST00000216117.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(397-399)Gcc>Acc		heme oxygenase (decycling) 1	NADH(DB00157)						36.0	43.0	40.0					22																	35782930		2203	4300	6503	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35782930G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.397G>A	22.37:g.35782930G>A	ENSP00000216117:p.Ala133Thr						p.A133T	NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN			3	736	+			133						Missense_Mutation	SNP	ENST00000216117.8	37	c.397G>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770502	0.69992	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.25912	1.77;1.77	5.8	3.71	0.42584	Haem oxygenase conserved site (1);Haem oxygenase-like, multi-helical (2);	0.047923	0.85682	N	0.000000	T	0.34337	0.0894	M	0.86028	2.79	0.80722	D	1	P	0.41524	0.753	B	0.38500	0.275	T	0.35599	-0.9782	10	0.54805	T	0.06	-18.6418	12.8496	0.57850	0.1332:0.0:0.8668:0.0	.	133	P09601	HMOX1_HUMAN	T	133	ENSP00000413316:A133T;ENSP00000216117:A133T	ENSP00000216117:A133T	A	+	1	0	HMOX1	34112930	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	2.919000	0.48836	0.808000	0.34231	-0.140000	0.14226	GCC		0.662	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			17	24	0	0	0	1	0	17	24				
SLC44A2	57153	broad.mit.edu	37	19	10742304	10742304	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10742304G>A	ENST00000335757.5	+	8	881	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SLC44A2_ENST00000407327.4_Missense_Mutation_p.A167T|SLC44A2_ENST00000586078.1_Missense_Mutation_p.A169T			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	169					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCATGCAGTGGCCCGGAGATG	0.607																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(505-507)Gcc>Acc		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						59.0	53.0	55.0					19																	10742304		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742304G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.505G>A	19.37:g.10742304G>A	ENSP00000336888:p.Ala169Thr					SLC44A2_ENST00000335757.5_Missense_Mutation_p.A169T|SLC44A2_ENST00000407327.4_Missense_Mutation_p.A167T	p.A169T	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		8	614	+			169					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.505G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707325	0.48412	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.09911	2.93;2.93	4.73	4.73	0.59995	.	0.235047	0.43579	D	0.000559	T	0.05640	0.0148	N	0.05230	-0.09	0.32815	D	0.501976	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.06144	-1.0843	10	0.46703	T	0.11	.	10.3087	0.43695	0.0918:0.0:0.9082:0.0	.	169;167	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	T	167;169;169	ENSP00000385135:A167T;ENSP00000336888:A169T	ENSP00000336888:A169T	A	+	1	0	SLC44A2	10603304	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.253000	0.51469	2.480000	0.83734	0.456000	0.33151	GCC		0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			10	15	0	0	0	1	0	10	15				
MAP3K4	4216	broad.mit.edu	37	6	161470982	161470982	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161470982G>A	ENST00000392142.4	+	3	1826	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A560T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.A560T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	560					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGCACGTATAGCATTGGTAAA	0.368																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1678-1680)Gca>Aca		mitogen-activated protein kinase kinase kinase 4							98.0	101.0	100.0					6																	161470982		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470982G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1678G>A	6.37:g.161470982G>A	ENSP00000375986:p.Ala560Thr					MAP3K4_ENST00000366920.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.A560T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.A560T	p.A560T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1826	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	560					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1678G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141002	0.77775	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01053	-1.1467	10	0.27785	T	0.31	-25.5178	19.5993	0.95554	0.0:0.0:1.0:0.0	.	560;560	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	T	560	ENSP00000355886:A560T;ENSP00000375986:A560T;ENSP00000355887:A560T;ENSP00000297332:A560T	ENSP00000297332:A560T	A	+	1	0	MAP3K4	161390972	1.000000	0.71417	0.368000	0.25939	0.979000	0.70002	9.441000	0.97557	2.628000	0.89032	0.655000	0.94253	GCA		0.368	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	89	0	0	0	1	0	5	89				
SLIT2	9353	broad.mit.edu	37	4	20555519	20555519	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20555519C>T	ENST00000504154.1	+	26	2905	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	885	LRRCT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAATTGCTCGTTGTGCTGG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2653-2655)Cgt>Tgt		slit homolog 2 (Drosophila)							139.0	131.0	134.0					4																	20555519		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20555519C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2653C>T	4.37:g.20555519C>T	ENSP00000422591:p.Arg885Cys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C	p.R885C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			26	2905	+			885			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2653C>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966759|3.966759	0.74131|0.74131	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;T;T;D|.	0.90324|.	-1.5;-1.51;-1.42;-1.49;-2.65|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Cysteine-rich flanking region, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84575|0.84575	0.5502|0.5502	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.995;0.999|.	D|D	0.87960|0.87960	0.2729|0.2729	10|5	0.62326|.	D|.	0.03|.	.|.	14.1363|14.1363	0.65289|0.65289	0.1501:0.8499:0.0:0.0|0.1501:0.8499:0.0:0.0	.|.	877;885|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|L	877;885;889;881;881;86|15	ENSP00000427548:R877C;ENSP00000422591:R885C;ENSP00000273739:R889C;ENSP00000422261:R881C;ENSP00000421975:R86C|.	ENSP00000273739:R889C|.	R|S	+|+	1|2	0|0	SLIT2|SLIT2	20164617|20164617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.690000|0.690000	0.40134|0.40134	5.890000|5.890000	0.69774|0.69774	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	CGT|TCG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			47	53	0	0	0	1	0	47	53				
ARID3B	10620	broad.mit.edu	37	15	74883635	74883635	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74883635C>T	ENST00000346246.5	+	6	1256	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	342	Interaction with RB1.|Poly-Ala.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCACCTGCTGCGGCTACTGCT	0.647																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1024-1026)gCg>gTg		AT rich interactive domain 3B (BRIGHT-like)							39.0	50.0	46.0					15																	74883635		2164	4241	6405	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883635C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1025C>T	15.37:g.74883635C>T	ENSP00000343126:p.Ala342Val						p.A342V	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1256	+			342			Interaction with RB1.|Poly-Ala.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1025C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174168	0.38413	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.48522	0.81	3.76	3.76	0.43208	.	0.579508	0.14858	N	0.294253	T	0.29028	0.0721	N	0.22421	0.69	0.09310	N	1	P;P;P	0.43287	0.614;0.702;0.802	B;B;B	0.32090	0.057;0.066;0.14	T	0.16808	-1.0390	10	0.49607	T	0.09	-2.4592	11.3852	0.49780	0.0:1.0:0.0:0.0	.	342;342;342	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	V	342	ENSP00000343126:A342V	ENSP00000343126:A342V	A	+	2	0	ARID3B	72670688	0.059000	0.20769	0.078000	0.20375	0.307000	0.27823	2.481000	0.45215	2.410000	0.81850	0.655000	0.94253	GCG		0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		48	58	0	0	0	1	0	48	58				
PROC	5624	broad.mit.edu	37	2	128186326	128186326	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128186326C>T	ENST00000234071.3	+	9	1277	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	PROC_ENST00000422777.3_Missense_Mutation_p.A397V|PROC_ENST00000453608.2_Missense_Mutation_p.A452V|PROC_ENST00000409048.1_Missense_Mutation_p.A431V	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	397	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CGGCAGGATGCCTGCGAGGGC	0.647																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	GRCh37	CM981643	PROC	M		c.(1354-1356)gCc>gTc		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						61.0	69.0	67.0					2																	128186326		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186326C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1190C>T	2.37:g.128186326C>T	ENSP00000234071:p.Ala397Val					PROC_ENST00000422777.3_Missense_Mutation_p.A397V|PROC_ENST00000409048.1_Missense_Mutation_p.A431V|PROC_ENST00000234071.3_Missense_Mutation_p.A397V	p.A452V			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1363	+	Colorectal(110;0.1)		397					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1355C>T	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488295|4.488295	0.84854|0.84854	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.43747|.	D|.	0.000527|.	T|T	0.71753|0.71753	0.3377|0.3377	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.993;0.992;0.996;0.993|.	T|T	0.69888|0.69888	-0.5023|-0.5023	10|5	0.87932|.	D|.	0|.	.|.	18.1613|18.1613	0.89708|0.89708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	452;453;431;397|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	V|S	397;356;452;431;397|172	ENSP00000234071:A397V;ENSP00000404030:A452V;ENSP00000386679:A431V;ENSP00000409543:A397V|.	ENSP00000234071:A397V|.	A|P	+|+	2|1	0|0	PROC|PROC	127902796|127902796	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.366000|0.366000	0.29705|0.29705	7.504000|7.504000	0.81646|0.81646	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.647	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		40	48	0	0	0	1	0	40	48				
EFCAB6	64800	broad.mit.edu	37	22	44067925	44067925	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44067925C>T	ENST00000262726.7	-	15	1821	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R371H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	523	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGGCCAATGCGCCCTGTGTC	0.333																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1567-1569)cGc>cAc		EF-hand calcium binding domain 6							97.0	91.0	93.0					22																	44067925		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44067925C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1568G>A	22.37:g.44067925C>T	ENSP00000262726:p.Arg523His					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R371H	p.R523H	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			15	1821	-		Ovarian(80;0.0247)|all_neural(38;0.025)	523			EF-hand 6.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1568G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	c	5.486	0.274730	0.10403	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.29917	1.55;1.55	5.17	1.67	0.24075	EF-hand-like domain (1);	1.308090	0.05244	N	0.512777	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999996	P	0.44521	0.837	B	0.37198	0.243	T	0.10706	-1.0618	10	0.15499	T	0.54	-2.8676	4.478	0.11753	0.6771:0.183:0.1399:0.0	.	523	Q5THR3	EFCB6_HUMAN	H	371;523	ENSP00000379533:R371H;ENSP00000262726:R523H	ENSP00000262726:R523H	R	-	2	0	EFCAB6	42399258	0.166000	0.22962	0.080000	0.20451	0.068000	0.16541	0.527000	0.22987	0.087000	0.17167	-0.272000	0.10252	CGC		0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		42	46	0	0	0	1	0	42	46				
MAN2A2	4122	broad.mit.edu	37	15	91455466	91455466	+	Missense_Mutation	SNP	G	G	A	rs200668237		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91455466G>A	ENST00000559717.1	+	15	2762	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R276H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R768H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	768					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCAGCAACCGCTACATGCAG	0.627																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2302-2304)cGc>cAc		mannosidase, alpha, class 2A, member 2		G	HIS/ARG	0,4396		0,0,2198	94.0	94.0	94.0		2303	4.4	1.0	15		94	1,8595	1.2+/-3.3	0,1,4297	yes	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	768/1151	91455466	1,12991	2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455466G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2303G>A	15.37:g.91455466G>A	ENSP00000452948:p.Arg768His					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R768H|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R276H	p.R768H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2321	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		768					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2303G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635054	0.47049	0.0	1.16E-4	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83250	-1.7;-1.7	5.32	4.4	0.53042	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.289846	0.41001	N	0.000975	T	0.78780	0.4337	M	0.68317	2.08	0.80722	D	1	B;B;B	0.14438	0.004;0.01;0.002	B;B;B	0.15484	0.009;0.013;0.005	T	0.74047	-0.3790	10	0.44086	T	0.13	-18.3369	7.061	0.25125	0.2413:0.0:0.7587:0.0	.	276;396;768	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	768;276	ENSP00000353655:R768H;ENSP00000388221:R276H	ENSP00000353655:R768H	R	+	2	0	MAN2A2	89256470	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.138000	0.42140	1.249000	0.43950	0.555000	0.69702	CGC		0.627	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		31	42	0	0	0	1	0	31	42				
CMTR1	23070	broad.mit.edu	37	6	37421017	37421017	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:37421017G>A	ENST00000373451.4	+	8	870	c.706G>A	c.(706-708)Gca>Aca	p.A236T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	236	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										TTATTGCAGGGCAGCAATGAA	0.448																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.e8-1									192.0	177.0	182.0					6																	37421017		2203	4300	6503	SO:0001630	splice_region_variant	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37421017G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.705-1G>A	6.37:g.37421017G>A							p.A236_splice	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			8	870	+			236					A8K949|Q14670|Q96FJ9	Splice_Site	SNP	ENST00000373451.4	37	c.704_splice	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316368	0.95655	.	.	ENSG00000137200	ENST00000373451	T	0.39406	1.08	5.92	5.92	0.95590	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77140	-0.2697	10	0.87932	D	0	-13.1703	19.3225	0.94248	0.0:0.0:1.0:0.0	.	236	Q8N1G2	MTR1_HUMAN	T	236	ENSP00000362550:A236T	ENSP00000362550:A236T	A	+	1	0	FTSJD2	37528995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GCA		0.448	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	Missense_Mutation	41	68	0	0	0	1	0	41	68				
SLC38A11	151258	broad.mit.edu	37	2	165755097	165755097	+	Silent	SNP	G	G	A	rs146184099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165755097G>A	ENST00000409149.3	-	11	1362	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000409058.1_Silent_p.F388F|SLC38A11_ENST00000409662.1_Silent_p.F357F|SLC38A11_ENST00000303735.4_Silent_p.F335F	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	357					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TAGCCATGACGAATCCAAAAA	0.433																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1003-1005)ttC>ttT		solute carrier family 38, member 11		G	,	1,4405	2.1+/-5.4	0,1,2202	126.0	111.0	116.0		1071,1005	1.6	1.0	2	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC38A11	NM_001199148.1,NM_173512.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	357/407,335/385	165755097	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755097G>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1071C>T	2.37:g.165755097G>A						SLC38A11_ENST00000409662.1_Silent_p.F357F|SLC38A11_ENST00000409149.3_Silent_p.F357F|SLC38A11_ENST00000409058.1_Silent_p.F388F	p.F335F	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			10	1335	-			357					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.1005C>T	CCDS56142.1																																																																																				0.433	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		14	25	0	0	0	1	0	14	25				
TLN1	7094	broad.mit.edu	37	9	35733078	35733078	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35733078C>T	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000353704.2_Missense_Mutation_p.P72L|CREB3_ENST00000486056.1_3'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCCAACCCCTGCCTTGTC	0.557																																						ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(214-216)cCc>cTc		cAMP responsive element binding protein 3							141.0	138.0	139.0					9																	35733078		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35733078C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733078C>T	Exception_encountered					CREB3_ENST00000486056.1_3'UTR	p.P72L	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	2	653	+	all_epithelial(49;0.167)		72			Transcription activation (acidic).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.215C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.245700	0.39697	.	.	ENSG00000107175	ENST00000353704	T	0.63913	-0.07	4.23	1.04	0.20106	.	0.702707	0.14081	N	0.342724	T	0.49558	0.1564	L	0.59436	1.845	0.09310	N	1	B	0.32829	0.386	B	0.27170	0.077	T	0.42749	-0.9433	10	0.49607	T	0.09	.	4.1595	0.10277	0.2095:0.4744:0.2327:0.0834	.	72	O43889-2	.	L	72	ENSP00000342136:P72L	ENSP00000342136:P72L	P	+	2	0	CREB3	35723078	0.000000	0.05858	0.002000	0.10522	0.291000	0.27294	0.966000	0.29331	0.363000	0.24346	0.580000	0.79431	CCC		0.557	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		16	30	0	0	0	1	0	16	30				
PCSK5	5125	broad.mit.edu	37	9	78907174	78907174	+	Silent	SNP	C	C	T	rs547201124		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:78907174C>T	ENST00000545128.1	+	25	3706	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1056	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTACATCTTGCGCTATGGGGT	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19044	0.0		0.0	False		,,,				2504	0.0					ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3166-3168)tgC>tgT		proprotein convertase subtilisin/kexin type 5							168.0	162.0	164.0					9																	78907174		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78907174C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3168C>T	9.37:g.78907174C>T							p.C1056C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			25	3706	+			756					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.3168C>T	CCDS55320.1																																																																																				0.358	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	84	0	0	0	1	0	17	84				
MICALL1	85377	broad.mit.edu	37	22	38328608	38328608	+	Missense_Mutation	SNP	G	G	A	rs142424154		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38328608G>A	ENST00000215957.6	+	11	2191	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	689	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)			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)					TGGAGAGATGGATACCATTGA	0.657																																						ENST00000215957.6																			0				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						c.(2065-2067)Gat>Aat		MICAL-like 1							62.0	63.0	62.0					22																	38328608		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38328608G>A	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.2065G>A	22.37:g.38328608G>A	ENSP00000215957:p.Asp689Asn					MICALL1_ENST00000402631.1_3'UTR	p.D689N	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			11	2191	+	Melanoma(58;0.045)		689					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.2065G>A	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.296980|4.296980	0.81025|0.81025	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008|ENST00000454685	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Domain of unknown function DUF3585 (1);|.	0.085202|.	0.49916|.	D|.	0.000123|.	T|T	0.55970|0.55970	0.1954|0.1954	N|N	0.21097|0.21097	0.63|0.63	0.45733|0.45733	D|D	0.998638|0.998638	D|.	0.57257|.	0.979|.	P|.	0.54759|.	0.76|.	T|T	0.50250|0.50250	-0.8850|-0.8850	10|5	0.25751|.	T|.	0.34|.	.|.	19.3396|19.3396	0.94336|0.94336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	689|.	Q8N3F8|.	MILK1_HUMAN|.	N|E	689;116;3|264	ENSP00000215957:D689N;ENSP00000384608:D116N;ENSP00000416766:D3N|.	ENSP00000215957:D689N|.	D|G	+|+	1|2	0|0	MICALL1|MICALL1	36658554|36658554	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.911000|0.911000	0.54048|0.54048	3.593000|3.593000	0.54001|0.54001	2.572000|2.572000	0.86782|0.86782	0.491000|0.491000	0.48974|0.48974	GAT|GGA		0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		20	18	0	0	0	1	0	20	18				
SBSN	374897	broad.mit.edu	37	19	36017621	36017621	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36017621G>A	ENST00000452271.2	-	1	1591	c.1563C>T	c.(1561-1563)ggC>ggT	p.G521G	SBSN_ENST00000518157.1_Silent_p.G178G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	521	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGCCTGGCCAGCAGCAT	0.577																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1561-1563)ggC>ggT		suprabasin							135.0	114.0	121.0					19																	36017621		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36017621G>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1563C>T	19.37:g.36017621G>A						SBSN_ENST00000518157.1_Silent_p.G178G	p.G521G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	1591	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		178					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.1563C>T	CCDS54253.1																																																																																				0.577	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		29	53	0	0	0	1	0	29	53				
DDX10	1662	broad.mit.edu	37	11	108788748	108788748	+	Intron	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108788748A>T	ENST00000322536.3	+	17	2579				DDX10_ENST00000526794.1_Missense_Mutation_p.Y818F	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10						metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAAATAAGGTATGTTTTTACT	0.333			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2452-2454)tAt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							82.0	89.0	87.0					11																	108788748		2201	4298	6499	SO:0001627	intron_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788748A>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2450+3A>T	11.37:g.108788748A>T						DDX10_ENST00000322536.3_Intron	p.Y818F			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2485	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	0					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.2453A>T	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	6.400	0.441973	0.12164	.	.	ENSG00000178105	ENST00000526794	T	0.41758	0.99	5.66	3.29	0.37713	.	.	.	.	.	T	0.32526	0.0832	.	.	.	0.20196	N	0.999922	P	0.40250	0.709	B	0.39617	0.305	T	0.07158	-1.0787	7	.	.	.	.	8.9806	0.35964	0.8451:0.0:0.1549:0.0	.	818	E9PIF2	.	F	818	ENSP00000432032:Y818F	.	Y	+	2	0	DDX10	108293958	0.999000	0.42202	1.000000	0.80357	0.005000	0.04900	1.255000	0.32909	0.480000	0.27534	-0.250000	0.11733	TAT		0.333	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		24	32	0	0	0	1	0	24	32				
SLIT1	6585	broad.mit.edu	37	10	98761034	98761034	+	Silent	SNP	C	C	T	rs143588507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:98761034C>T	ENST00000266058.4	-	37	4685	c.4440G>A	c.(4438-4440)acG>acA	p.T1480T	SLIT1_ENST00000371070.4_Missense_Mutation_p.R1439H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1480	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.T1480T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACAGGGGGCGCGTGGTCTGGC	0.657																																						ENST00000371070.4																			1	Substitution - coding silent(1)	p.T1480T(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4315-4317)cGc>cAc		slit homolog 1 (Drosophila)		C		0,4406		0,0,2203	49.0	57.0	54.0		4440	0.9	1.0	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT1	NM_003061.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1480/1535	98761034	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98761034C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4440G>A	10.37:g.98761034C>T						SLIT1_ENST00000266058.4_Silent_p.T1480T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.R1439H			O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4399	-		Colorectal(252;0.162)	1128			EGF-like 9.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4316G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361794	0.24684	0.0	1.16E-4	ENSG00000187122	ENST00000371070	D	0.81579	-1.51	5.09	0.873	0.19118	.	.	.	.	.	T	0.76535	0.4001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69705	-0.5073	6	0.44086	T	0.13	.	2.7851	0.05371	0.1121:0.4723:0.1205:0.2952	.	.	.	.	H	1439	ENSP00000360109:R1439H	ENSP00000360109:R1439H	R	-	2	0	SLIT1	98751024	0.003000	0.15002	1.000000	0.80357	0.945000	0.59286	-1.144000	0.03197	0.308000	0.22923	-0.258000	0.10820	CGC		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		29	46	0	0	0	1	0	29	46				
SLAIN2	57606	broad.mit.edu	37	4	48422198	48422198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48422198C>T	ENST00000264313.6	+	7	1835	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*	SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.Q306*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	473					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						GGCTCTTCGGCAACCAGTGAA	0.488																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1417-1419)Caa>Taa		SLAIN motif family, member 2							94.0	90.0	91.0					4																	48422198		1985	4159	6144	SO:0001587	stop_gained	57606					centrosome		g.chr4:48422198C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1417C>T	4.37:g.48422198C>T	ENSP00000264313:p.Gln473*					SLAIN2_ENST00000512093.1_Nonsense_Mutation_p.Q306*	p.Q473*	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			7	1835	+			473					A8K4P1|Q8N5R3	Nonsense_Mutation	SNP	ENST00000264313.6	37	c.1417C>T	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772538|3.772538	0.69992|0.69992	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000510595|ENST00000264313;ENST00000512093	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.114057	.|0.64402	.|D	.|0.000010	T|.	0.77491|.	0.4138|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80636|.	-0.1294|.	3|.	.|0.72032	.|D	.|0.01	-7.1498|-7.1498	18.3366|18.3366	0.90290|0.90290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	81|473;306	.|.	.|ENSP00000264313:Q473X	A|Q	+|+	2|1	0|0	SLAIN2|SLAIN2	48116955|48116955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.683000|0.683000	0.39861|0.39861	6.429000|6.429000	0.73387|0.73387	2.346000|2.346000	0.79739|0.79739	0.557000|0.557000	0.71058|0.71058	GCA|CAA		0.488	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		18	22	0	0	0	1	0	18	22				
BBS4	585	broad.mit.edu	37	15	73029851	73029851	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73029851C>T	ENST00000268057.4	+	16	1524	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	BBS4_ENST00000539603.1_Missense_Mutation_p.P483S|BBS4_ENST00000395205.2_Missense_Mutation_p.P503S|BBS4_ENST00000542334.1_Missense_Mutation_p.P323S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	495	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CACAAAGCCCCCATCTCTTCC	0.403									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1483-1485)Cca>Tca		Bardet-Biedl syndrome 4							51.0	49.0	49.0					15																	73029851		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73029851C>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1483C>T	15.37:g.73029851C>T	ENSP00000268057:p.Pro495Ser					BBS4_ENST00000539603.1_Missense_Mutation_p.P483S|BBS4_ENST00000395205.2_Missense_Mutation_p.P503S|BBS4_ENST00000542334.1_Missense_Mutation_p.P323S	p.P495S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			16	1524	+			495			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1483C>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609957	0.46527	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.74842	-0.75;-0.88;-0.88;-0.87	5.17	4.25	0.50352	.	0.226724	0.38605	N	0.001632	T	0.67581	0.2908	M	0.67953	2.075	0.46927	D	0.99925	P;P;B	0.35628	0.513;0.513;0.379	B;B;B	0.32533	0.147;0.147;0.07	T	0.63488	-0.6626	10	0.12766	T	0.61	-12.1593	12.0719	0.53622	0.0:0.9186:0.0:0.0814	.	483;503;495	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	S	323;495;483;503	ENSP00000445964:P323S;ENSP00000268057:P495S;ENSP00000442492:P483S;ENSP00000378631:P503S	ENSP00000268057:P495S	P	+	1	0	BBS4	70816904	0.990000	0.36364	0.937000	0.37676	0.979000	0.70002	5.009000	0.63998	1.309000	0.44985	0.655000	0.94253	CCA		0.403	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		3	18	0	0	0	1	0	3	18				
ANAPC2	29882	broad.mit.edu	37	9	140074793	140074793	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140074793T>C	ENST00000323927.2	-	10	1734	c.1730A>G	c.(1729-1731)gAg>gGg	p.E577G		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	577					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTTCTCATCCTCCTCCCGGAT	0.682																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1729-1731)gAg>gGg		anaphase promoting complex subunit 2							51.0	50.0	51.0					9																	140074793		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074793T>C	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1730A>G	9.37:g.140074793T>C	ENSP00000314004:p.Glu577Gly						p.E577G	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	10	1734	-	all_cancers(76;0.0926)		577					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1730A>G	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970838	0.74246	.	.	ENSG00000176248	ENST00000323927	T	0.74842	-0.88	4.79	3.56	0.40772	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.73962	2.25	0.80722	D	1	D;D	0.58620	0.983;0.979	P;P	0.58013	0.831;0.74	T	0.79750	-0.1672	10	0.44086	T	0.13	-25.6647	8.511	0.33217	0.1736:0.0:0.0:0.8264	.	577;574	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	G	577	ENSP00000314004:E577G	ENSP00000314004:E577G	E	-	2	0	ANAPC2	139194614	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.322000	0.59215	1.785000	0.52413	0.379000	0.24179	GAG		0.682	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		19	34	0	0	0	1	0	19	34				
CDS2	8760	broad.mit.edu	37	20	5159511	5159511	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5159511G>A	ENST00000460006.1	+	5	745	c.438G>A	c.(436-438)acG>acA	p.T146T	CDS2_ENST00000379062.4_Silent_p.T26T|CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	146					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGACAGTGACGGATTACTTCT	0.448																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(436-438)acG>acA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							171.0	152.0	158.0					20																	5159511		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5159511G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.438G>A	20.37:g.5159511G>A						CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.T26T|CDS2_ENST00000535100.1_5'UTR	p.T146T	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			5	745	+			146					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.438G>A	CCDS13088.1																																																																																				0.448	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			35	47	0	0	0	1	0	35	47				
ALDH6A1	4329	broad.mit.edu	37	14	74535652	74535652	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74535652T>C	ENST00000553458.1	-	7	861	c.763A>G	c.(763-765)Aaa>Gaa	p.K255E	ALDH6A1_ENST00000556852.1_5'Flank|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.K242E	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	255					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CTGATTGCTTTGATGTCCGGA	0.403																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(763-765)Aaa>Gaa		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						80.0	76.0	77.0					14																	74535652		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74535652T>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.763A>G	14.37:g.74535652T>C	ENSP00000450436:p.Lys255Glu					ALDH6A1_ENST00000350259.4_Missense_Mutation_p.K242E|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'UTR	p.K255E	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	861	-			255					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.763A>G	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001544	0.93227	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.91011	-2.77;-2.77	5.98	5.98	0.97165	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.093263	0.64402	D	0.000001	D	0.91878	0.7429	M	0.78801	2.425	0.80722	D	1	P;P	0.39809	0.689;0.466	P;P	0.44696	0.458;0.458	D	0.92342	0.5882	10	0.72032	D	0.01	.	12.3403	0.55091	0.0:0.0:0.1407:0.8593	.	242;255	B4DFS8;Q02252	.;MMSA_HUMAN	E	255;242	ENSP00000450436:K255E;ENSP00000342564:K242E	ENSP00000342564:K255E	K	-	1	0	ALDH6A1	73605405	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.188000	0.72045	2.288000	0.76882	0.528000	0.53228	AAA		0.403	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			7	42	0	0	0	1	0	7	42				
PRRC2B	84726	broad.mit.edu	37	9	134351102	134351102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134351102C>T	ENST00000357304.4	+	15	3641	c.3586C>T	c.(3586-3588)Cga>Tga	p.R1196*	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1196							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGCCAAGAGCCGAGGCCCTCG	0.622																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3586-3588)Cga>Tga		proline-rich coiled-coil 2B							21.0	23.0	22.0					9																	134351102		1939	4142	6081	SO:0001587	stop_gained	84726						protein binding	g.chr9:134351102C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3586C>T	9.37:g.134351102C>T	ENSP00000349856:p.Arg1196*					PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	p.R1196*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3641	+			1196					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.3586C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	41	8.985826	0.99027	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	.	.	.	5.54	0.958	0.19619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3638	0.66792	0.7505:0.2494:0.0:0.0	.	.	.	.	X	1196;492	.	.	R	+	1	2	PRRC2B	133340923	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	5.333000	0.65917	0.247000	0.21414	0.462000	0.41574	CGA		0.622	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	10	0	0	0	1	0	3	10				
MTNR1B	4544	broad.mit.edu	37	11	92714946	92714946	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92714946G>A	ENST00000257068.2	+	2	563	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	186					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TACGACCCACGCATCTATTCC	0.617																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(556-558)cGc>cAc		melatonin receptor 1B	Ramelteon(DB00980)						91.0	87.0	88.0					11																	92714946		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714946G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.557G>A	11.37:g.92714946G>A	ENSP00000257068:p.Arg186His						p.R186H	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	563	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	186						Missense_Mutation	SNP	ENST00000257068.2	37	c.557G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515259	0.64634	.	.	ENSG00000134640	ENST00000257068	T	0.72394	-0.65	4.21	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.87617	2.895	0.58432	D	0.999997	P	0.47409	0.895	P	0.50162	0.633	T	0.81061	-0.1103	10	0.39692	T	0.17	-21.8726	13.6018	0.62024	0.0:0.0:0.8434:0.1566	.	186	P49286	MTR1B_HUMAN	H	186	ENSP00000257068:R186H	ENSP00000257068:R186H	R	+	2	0	MTNR1B	92354594	1.000000	0.71417	0.691000	0.30163	0.603000	0.37013	7.031000	0.76491	1.097000	0.41459	0.491000	0.48974	CGC		0.617	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			6	11	0	0	0	1	0	6	11				
ABCC5	10057	broad.mit.edu	37	3	183696309	183696309	+	Silent	SNP	G	G	A	rs375709303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183696309G>A	ENST00000334444.6	-	9	1518	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	ABCC5_ENST00000265586.6_Silent_p.F426F|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	426	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTGTCAGATCGAAGCCCAGGG	0.517																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1276-1278)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		G		0,4128		0,0,2064	85.0	95.0	92.0		1278	1.8	1.0	3		92	1,8435		0,1,4217	no	coding-synonymous	ABCC5	NM_005688.2		0,1,6281	AA,AG,GG		0.0119,0.0,0.0080		426/1438	183696309	1,12563	2064	4218	6282	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183696309G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1278C>T	3.37:g.183696309G>A						ABCC5_ENST00000265586.6_Silent_p.F426F|ABCC5_ENST00000492216.1_5'UTR	p.F426F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1518	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		426			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.1278C>T	CCDS43176.1																																																																																				0.517	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	33	0	0	0	1	0	8	33				
ELMOD2	255520	broad.mit.edu	37	4	141471406	141471406	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:141471406C>T	ENST00000323570.3	+	9	891	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	253	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ATGAATTTGACAAGTTTTGGT	0.294																																						ENST00000323570.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(757-759)gaC>gaT		ELMO/CED-12 domain containing 2							59.0	62.0	61.0					4																	141471406		2199	4278	6477	SO:0001819	synonymous_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141471406C>T	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.759C>T	4.37:g.141471406C>T							p.D253D	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			9	891	+	all_hematologic(180;0.162)		253			ELMO.		B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.759C>T	CCDS3752.1																																																																																				0.294	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702		12	28	0	0	0	1	0	12	28				
FAM91A1	157769	broad.mit.edu	37	8	124799552	124799552	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124799552G>A	ENST00000334705.7	+	13	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CACACGAAGCGCATCGCATTC	0.388																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1129-1131)cGc>cAc		family with sequence similarity 91, member A1							77.0	74.0	74.0					8																	124799552		1881	4108	5989	SO:0001583	missense	157769							g.chr8:124799552G>A	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1130G>A	8.37:g.124799552G>A	ENSP00000335082:p.Arg377His					FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377H	p.R377H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		13	1376	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		377					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1130G>A	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715967	0.68844	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.60040	0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.81179	2.53	0.80722	D	1	B;P	0.36048	0.308;0.534	B;B	0.28991	0.067;0.097	T	0.67401	-0.5680	10	0.62326	D	0.03	.	19.8193	0.96586	0.0:0.0:1.0:0.0	.	377;377	E7ER68;Q658Y4	.;F91A1_HUMAN	H	377	ENSP00000429491:R377H;ENSP00000335082:R377H	ENSP00000335082:R377H	R	+	2	0	FAM91A1	124868733	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	9.793000	0.99091	2.699000	0.92147	0.650000	0.86243	CGC		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		12	27	0	0	0	1	0	12	27				
FAM193A	8603	broad.mit.edu	37	4	2691278	2691278	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2691278G>A	ENST00000324666.5	+	12	1855	c.1504G>A	c.(1504-1506)Gta>Ata	p.V502I	FAM193A_ENST00000502458.1_Missense_Mutation_p.V524I|FAM193A_ENST00000505311.1_Missense_Mutation_p.V502I|FAM193A_ENST00000382839.3_Missense_Mutation_p.V502I|FAM193A_ENST00000545951.1_Missense_Mutation_p.V502I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	502										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGCATCAGGTATTCAATGC	0.348																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1504-1506)Gta>Ata		family with sequence similarity 193, member A							99.0	95.0	96.0					4																	2691278		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691278G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1504G>A	4.37:g.2691278G>A	ENSP00000324587:p.Val502Ile					FAM193A_ENST00000505311.1_Missense_Mutation_p.V502I|FAM193A_ENST00000502458.1_Missense_Mutation_p.V524I|FAM193A_ENST00000545951.1_Missense_Mutation_p.V502I|FAM193A_ENST00000382839.3_Missense_Mutation_p.V502I	p.V502I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1855	+			502					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1504G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495511	0.64186	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.38	5.38	0.77491	.	0.119417	0.56097	D	0.000028	T	0.27489	0.0675	L	0.47716	1.5	0.35872	D	0.82827	B;P;B;B;B	0.34639	0.373;0.461;0.373;0.189;0.189	B;B;B;B;B	0.34180	0.177;0.145;0.177;0.131;0.131	T	0.25606	-1.0127	10	0.42905	T	0.14	-12.6959	18.1813	0.89779	0.0:0.0:1.0:0.0	.	502;524;502;524;502	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	I	502;502;502;524;356	ENSP00000372290:V502I;ENSP00000324587:V502I;ENSP00000443617:V502I;ENSP00000427505:V524I;ENSP00000427260:V356I	ENSP00000324587:V502I	V	+	1	0	FAM193A	2661076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.655000	0.54460	2.532000	0.85374	0.558000	0.71614	GTA		0.348	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		40	52	0	0	0	1	0	40	52				
NPIPB15	440348	broad.mit.edu	37	16	74425467	74425467	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74425467T>C	ENST00000429990.1	+	7	917	c.821T>C	c.(820-822)cTt>cCt	p.L274P				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	274	Pro-rich.					extracellular region (GO:0005576)											CTTCATCCCCTTCCACCCTCA	0.507																																						ENST00000429990.1																			0											c.(820-822)cTt>cCt		nuclear pore complex interacting protein family, member B15							148.0	145.0	146.0					16																	74425467		2181	4287	6468	SO:0001583	missense	440348							g.chr16:74425467T>C	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.821T>C	16.37:g.74425467T>C	ENSP00000411140:p.Leu274Pro						p.L274P							7	917	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.821T>C		.	.	.	.	.	.	.	.	.	.	-	8.573	0.880494	0.17467	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.52057	0.68	.	.	.	.	.	.	.	.	T	0.42966	0.1226	L	0.55481	1.735	0.09310	N	1	B	0.28419	0.211	B	0.35688	0.208	T	0.44221	-0.9342	6	0.48119	T	0.1	.	.	.	.	.	213	A6NHN6	NPPL2_HUMAN	P	152;274	ENSP00000411140:L274P	ENSP00000411140:L274P	L	+	2	0	NPIPL2	72982968	.	.	.	.	.	.	.	.	.	.	.	.	CTT		0.507	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		8	195	0	0	0	1	0	8	195				
ABCB1	5243	broad.mit.edu	37	7	87138668	87138668	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87138668G>A	ENST00000265724.3	-	27	3829	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074W|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1138	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GACACCACCCGGCTGTTGTCT	0.512																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3412-3414)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						160.0	145.0	150.0					7																	87138668		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138668G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3412C>T	7.37:g.87138668G>A	ENSP00000265724:p.Arg1138Trp					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074W	p.R1138W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3829	-	Esophageal squamous(14;0.00164)		1138			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3412C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214255	0.58452	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88975	-2.45;-2.45	6.06	5.13	0.70059	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.052964	0.64402	D	0.000001	D	0.90324	0.6973	L	0.59967	1.855	0.80722	D	1	D;P	0.54964	0.969;0.835	P;B	0.52758	0.708;0.186	D	0.90760	0.4664	10	0.87932	D	0	-11.022	13.2406	0.59995	0.0:0.0:0.7281:0.2719	.	1074;1138	B5AK60;P08183	.;MDR1_HUMAN	W	919;1138;1074	ENSP00000265724:R1138W;ENSP00000444095:R1074W	ENSP00000265724:R1138W	R	-	1	2	ABCB1	86976604	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.212000	0.32394	2.871000	0.98454	0.655000	0.94253	CGG		0.512	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		32	63	0	0	0	1	0	32	63				
RPL6	6128	broad.mit.edu	37	12	112846078	112846078	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112846078T>C	ENST00000424576.2	-	3	487	c.302A>G	c.(301-303)aAc>aGc	p.N101S	RPL6_ENST00000202773.9_Missense_Mutation_p.N101S	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GGTACCGCCGTTCTTGTCACC	0.403																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(301-303)aAc>aGc		ribosomal protein L6							81.0	83.0	82.0					12																	112846078		2203	4300	6503	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112846078T>C	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.302A>G	12.37:g.112846078T>C	ENSP00000403172:p.Asn101Ser					RPL6_ENST00000202773.9_Missense_Mutation_p.N101S	p.N101S	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			3	487	-			101					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.302A>G	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064968	0.76187	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.35421	1.31;1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.88181	2.935	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.74137	-0.3762	10	0.87932	D	0	.	15.1616	0.72791	0.0:0.0:0.0:1.0	.	101	Q02878	RL6_HUMAN	S	101;101;41;101;101;101;101	ENSP00000202773:N101S;ENSP00000403172:N101S	ENSP00000202773:N101S	N	-	2	0	RPL6	111330461	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	7.604000	0.82830	1.992000	0.58205	0.533000	0.62120	AAC		0.403	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			5	68	0	0	0	1	0	5	68				
ADTRP	84830	broad.mit.edu	37	6	11714746	11714746	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:11714746C>A	ENST00000414691.3	-	6	1069		c.e6-1		ADTRP_ENST00000229583.5_Splice_Site|ADTRP_ENST00000514824.1_Splice_Site	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCATGTCACCTGTACAAACA	0.423																																						ENST00000414691.3																			0											c.e6-1		androgen-dependent TFPI-regulating protein							142.0	135.0	138.0					6																	11714746		2203	4300	6503	SO:0001630	splice_region_variant	84830					integral to membrane		g.chr6:11714746C>A	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.659-1G>T	6.37:g.11714746C>A						ADTRP_ENST00000229583.5_Splice_Site|ADTRP_ENST00000514824.1_Splice_Site		NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			6	1069	-								B2R7T9|B4DV39|Q5THW1	Splice_Site	SNP	ENST00000414691.3	37		CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938452	0.73557	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0378	0.80642	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf105	11822732	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.383000	0.52471	2.941000	0.99782	0.655000	0.94253	.		0.423	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744	Intron	35	31	1	0	1.47197e-15	1	1.61186e-15	35	31				
PPP3CC	5533	broad.mit.edu	37	8	22398279	22398279	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22398279G>A	ENST00000240139.5	+	14	1830	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000397775.3_Silent_p.A510A|PPP3CC_ENST00000289963.8_Silent_p.A491A	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	501			A -> V (in dbSNP:rs28764007).		apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CACATGCTGCGCACAGGAGCG	0.473																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1501-1503)gcG>gcA		protein phosphatase 3, catalytic subunit, gamma isozyme							55.0	51.0	52.0					8																	22398279		2203	4300	6503	SO:0001819	synonymous_variant	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22398279G>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1503G>A	8.37:g.22398279G>A						PPP3CC_ENST00000397775.3_Silent_p.A510A|PPP3CC_ENST00000289963.8_Silent_p.A491A	p.A501A	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	14	1830	+		Prostate(55;0.104)	501		A -> V (in dbSNP:rs28764007).			B4DRT5|Q9BSS6|Q9H4M5	Silent	SNP	ENST00000240139.5	37	c.1503G>A	CCDS34859.1																																																																																				0.473	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		12	15	0	0	0	1	0	12	15				
ARRDC4	91947	broad.mit.edu	37	15	98511267	98511267	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98511267G>T	ENST00000268042.6	+	4	710	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ARRDC4_ENST00000538249.1_Missense_Mutation_p.E95D	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	182					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AAACTCAAGAGAAAATGGTTG	0.348																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(544-546)gaG>gaT		arrestin domain containing 4							96.0	106.0	103.0					15																	98511267		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98511267G>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.546G>T	15.37:g.98511267G>T	ENSP00000268042:p.Glu182Asp					ARRDC4_ENST00000538249.1_Missense_Mutation_p.E95D	p.E182D	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		4	710	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		182					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.546G>T	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	g	17.64	3.439166	0.63067	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.06933	3.24;3.24	5.68	1.78	0.24846	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	L	0.52905	1.665	0.49299	D	0.999776	P;B	0.37636	0.603;0.38	B;B	0.30316	0.089;0.114	T	0.22906	-1.0203	10	0.51188	T	0.08	-1.7953	9.0412	0.36319	0.4162:0.0:0.5838:0.0	.	182;95	Q8NCT1;F5H824	ARRD4_HUMAN;.	D	95;182	ENSP00000443774:E95D;ENSP00000268042:E182D	ENSP00000268042:E182D	E	+	3	2	ARRDC4	96312271	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.771000	0.26633	0.085000	0.17107	-0.127000	0.14921	GAG		0.348	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		21	29	1	0	1.55795e-14	1	1.69983e-14	21	29				
TPR	7175	broad.mit.edu	37	1	186326648	186326648	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186326648C>A	ENST00000367478.4	-	14	1901	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	535					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATACTAGATGCTGTGATATTA	0.403			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1603-1605)caG>caT		translocated promoter region, nuclear basket protein							141.0	129.0	133.0					1																	186326648		1847	4097	5944	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186326648C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1605G>T	1.37:g.186326648C>A	ENSP00000356448:p.Gln535His					TPR_ENST00000474852.1_5'UTR	p.Q535H	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1901	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	535					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1605G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924691	0.73213	.	.	ENSG00000047410	ENST00000367478	T	0.25085	1.82	5.39	5.39	0.77823	.	0.164921	0.56097	D	0.000040	T	0.32734	0.0839	L	0.52759	1.655	0.47009	D	0.999285	P;D	0.61697	0.771;0.99	B;P	0.53593	0.404;0.73	T	0.05920	-1.0856	10	0.72032	D	0.01	.	7.3584	0.26731	0.0:0.7952:0.0:0.2048	.	535;535	Q15624;P12270	.;TPR_HUMAN	H	535	ENSP00000356448:Q535H	ENSP00000356448:Q535H	Q	-	3	2	TPR	184593271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.785000	0.38684	2.685000	0.91497	0.591000	0.81541	CAG		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		33	44	1	0	1.22384e-17	1	1.34778e-17	33	44				
ITGA2B	3674	broad.mit.edu	37	17	42461310	42461310	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42461310G>A	ENST00000262407.5	-	11	981	c.950C>T	c.(949-951)gCg>gTg	p.A317V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.A2V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.A317V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	317					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAAATACGACGCCATCTGCAA	0.532																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(949-951)gCg>gTg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						77.0	74.0	75.0					17																	42461310		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42461310G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.950C>T	17.37:g.42461310G>A	ENSP00000262407:p.Ala317Val					ITGA2B_ENST00000353281.4_Missense_Mutation_p.A317V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.A2V	p.A317V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	11	981	-		Prostate(33;0.0181)	317					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.950C>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544070	0.86022	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.72167	-0.63;-0.63;-0.63	5.23	5.23	0.72850	.	0.000000	0.34986	N	0.003525	D	0.84651	0.5519	M	0.77712	2.385	0.50813	D	0.999896	D	0.89917	1.0	D	0.91635	0.999	D	0.86687	0.1920	10	0.87932	D	0	.	17.5798	0.87963	0.0:0.0:1.0:0.0	.	317	P08514	ITA2B_HUMAN	V	317;317;2	ENSP00000262407:A317V;ENSP00000340536:A317V;ENSP00000366268:A2V	ENSP00000262407:A317V	A	-	2	0	ITGA2B	39816836	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.296000	0.59055	2.432000	0.82394	0.561000	0.74099	GCG		0.532	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			11	3	0	0	0	1	0	11	3				
GOLM1	51280	broad.mit.edu	37	9	88650460	88650460	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88650460C>T	ENST00000388712.3	-	8	1006	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.V280M	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	280					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGTCTTCCACCACCTGCTCC	0.607											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(838-840)Gtg>Atg		golgi membrane protein 1							149.0	163.0	158.0					9																	88650460		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650460C>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.838G>A	9.37:g.88650460C>T	ENSP00000373364:p.Val280Met		OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_ENST00000388711.3_Missense_Mutation_p.V280M	p.V280M	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			8	1006	-			280					Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.838G>A	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348363	0.24426	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.44881	0.91;0.91	4.54	2.63	0.31362	.	2.476840	0.01390	N	0.013219	T	0.41789	0.1174	L	0.44542	1.39	0.09310	N	1	B	0.21753	0.06	B	0.32465	0.146	T	0.34030	-0.9845	10	0.48119	T	0.1	-3.2651	5.5635	0.17157	0.0:0.6877:0.2045:0.1077	.	280	Q8NBJ4	GOLM1_HUMAN	M	280	ENSP00000373364:V280M;ENSP00000373363:V280M	ENSP00000373363:V280M	V	-	1	0	GOLM1	87840280	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.070000	0.11523	1.226000	0.43582	0.462000	0.41574	GTG		0.607	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		54	87	0	0	0	1	0	54	87				
ABCB1	5243	broad.mit.edu	37	7	87196170	87196170	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87196170G>T	ENST00000265724.3	-	7	878	c.461C>A	c.(460-462)gCt>gAt	p.A154D	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	154	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCGCATTATAGCATGAAAAAA	0.423																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(460-462)gCt>gAt		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						134.0	138.0	137.0					7																	87196170		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196170G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.461C>A	7.37:g.87196170G>T	ENSP00000265724:p.Ala154Asp					ABCB1_ENST00000543898.1_Intron	p.A154D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			7	878	-	Esophageal squamous(14;0.00164)		154			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.461C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258599	0.80246	.	.	ENSG00000085563	ENST00000265724	D	0.90676	-2.71	5.91	5.91	0.95273	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.494167	0.23537	N	0.047108	D	0.96430	0.8835	H	0.95679	3.705	0.80722	D	1	D	0.60575	0.988	P	0.56823	0.807	D	0.96750	0.9553	10	0.62326	D	0.03	-6.7113	20.2963	0.98556	0.0:0.0:1.0:0.0	.	154	P08183	MDR1_HUMAN	D	154	ENSP00000265724:A154D	ENSP00000265724:A154D	A	-	2	0	ABCB1	87034106	0.938000	0.31826	0.967000	0.41034	0.928000	0.56348	5.291000	0.65667	2.813000	0.96785	0.655000	0.94253	GCT		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		22	44	1	0	5.45024e-15	1	5.96122e-15	22	44				
ZNF616	90317	broad.mit.edu	37	19	52619169	52619169	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52619169C>T	ENST00000600228.1	-	4	1509	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TACTGAAGACCTTGCCACATT	0.408																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1246-1248)aaG>aaA		zinc finger protein 616							175.0	162.0	166.0					19																	52619169		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619169C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1248G>A	19.37:g.52619169C>T						ZNF616_ENST00000330123.5_3'UTR	p.K416K	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1509	-			416					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1248G>A	CCDS33090.1																																																																																				0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		21	167	0	0	0	1	0	21	167				
SLITRK3	22865	broad.mit.edu	37	3	164906130	164906130	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164906130A>G	ENST00000475390.1	-	2	2932	c.2489T>C	c.(2488-2490)aTa>aCa	p.I830T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I830T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	830					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CACCGTCACTATGGTGTTAAG	0.552										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2488-2490)aTa>aCa		SLIT and NTRK-like family, member 3							108.0	107.0	107.0					3																	164906130		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906130A>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2489T>C	3.37:g.164906130A>G	ENSP00000420091:p.Ile830Thr	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.I830T	p.I830T			O94933	SLIK3_HUMAN			2	2932	-			830					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2489T>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092082	0.36952	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.61392	0.11;0.11	5.33	5.33	0.75918	.	0.000000	0.41500	D	0.000863	T	0.63165	0.2488	L	0.27053	0.805	0.54753	D	0.999982	D	0.57899	0.981	D	0.67231	0.95	T	0.64457	-0.6403	10	0.46703	T	0.11	-12.603	14.4161	0.67151	1.0:0.0:0.0:0.0	.	830	O94933	SLIK3_HUMAN	T	830	ENSP00000420091:I830T;ENSP00000241274:I830T	ENSP00000241274:I830T	I	-	2	0	SLITRK3	166388824	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.462000	0.66707	2.241000	0.73720	0.533000	0.62120	ATA		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		18	39	0	0	0	1	0	18	39				
B4GALNT2	124872	broad.mit.edu	37	17	47247084	47247084	+	Silent	SNP	C	C	T	rs147352919		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47247084C>T	ENST00000300404.2	+	11	1754	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	B4GALNT2_ENST00000393354.2_Silent_p.A505A|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Silent_p.A479A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCCAATGTGCCGCATAAAGGT	0.512																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gcC>gcT		beta-1,4-N-acetyl-galactosaminyl transferase 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	62.0	51.0	55.0		1515,1437,1695	-0.8	0.0	17	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	505/507,479/481,565/567	47247084	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247084C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1695C>T	17.37:g.47247084C>T						B4GALNT2_ENST00000393354.2_Silent_p.A505A|B4GALNT2_ENST00000504681.1_Silent_p.A479A	p.A565A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		11	1754	+			565					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1695C>T	CCDS11544.1																																																																																				0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		12	31	0	0	0	1	0	12	31				
MGAM	8972	broad.mit.edu	37	7	141750044	141750044	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:141750044C>T	ENST00000549489.2	+	23	2692	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V	MGAM_ENST00000475668.2_Missense_Mutation_p.A866V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	866	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATACTGTGGCCAATAAAGTG	0.423																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2596-2598)gCc>gTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						301.0	277.0	284.0					7																	141750044		1886	4117	6003	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141750044C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2597C>T	7.37:g.141750044C>T	ENSP00000447378:p.Ala866Val					MGAM_ENST00000549489.2_Missense_Mutation_p.A866V	p.A866V			O43451	MGA_HUMAN			23	2651	+	Melanoma(164;0.0272)		866			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2597C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843892	0.32606	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89343	-2.5	5.38	3.51	0.40186	.	0.558091	0.16242	N	0.223090	D	0.82898	0.5137	L	0.43152	1.355	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.73739	-0.3888	10	0.52906	T	0.07	.	7.3244	0.26547	0.3495:0.5689:0.0:0.0816	.	866	O43451	MGA_HUMAN	V	866;866;743	ENSP00000447378:A866V	ENSP00000316431:A743V	A	+	2	0	MGAM	141396513	0.226000	0.23696	0.377000	0.26055	0.808000	0.45660	0.450000	0.21762	1.280000	0.44463	0.563000	0.77884	GCC		0.423	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			18	54	0	0	0	1	0	18	54				
CLTCL1	8218	broad.mit.edu	37	22	19178854	19178854	+	Missense_Mutation	SNP	G	G	A	rs190366603	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19178854G>A	ENST00000263200.10	-	27	4357	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1429	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGTCCAGCCGGGGTGAAAGC	0.493			T	?	ALCL								G|||	3	0.000599042	0.0023	0.0	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4285-4287)Cgg>Tgg		clathrin, heavy chain-like 1		G	TRP/ARG,TRP/ARG	5,3907		0,5,1951	80.0	84.0	83.0		4285,4285	3.6	1.0	22		83	0,8286		0,0,4143	yes	missense,missense	CLTCL1	NM_007098.3,NM_001835.3	101,101	0,5,6094	AA,AG,GG		0.0,0.1278,0.041	benign,benign	1429/1641,1429/1584	19178854	5,12193	1956	4143	6099	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19178854G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4285C>T	22.37:g.19178854G>A	ENSP00000445677:p.Arg1429Trp					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1429W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1429W|CLTCL1_ENST00000442042.2_5'UTR	p.R1429W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			27	4357	-	Colorectal(54;0.0993)		1429			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4285C>T	CCDS46662.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.39	3.613700	0.66672	0.001278	0.0	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20332	2.08;2.08;2.08	3.61	3.61	0.41365	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.40956	0.1138	M	0.92649	3.33	0.80722	D	1	B;B;B	0.33171	0.4;0.318;0.266	B;B;B	0.39217	0.283;0.256;0.294	T	0.57888	-0.7733	10	0.87932	D	0	-17.9135	15.4348	0.75137	0.0:0.0:1.0:0.0	.	1429;252;1429	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	W	1429	ENSP00000439662:R1429W;ENSP00000445677:R1429W;ENSP00000441158:R1429W	ENSP00000445677:R1429W	R	-	1	2	CLTCL1	17558854	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	2.973000	0.49264	1.868000	0.54150	0.585000	0.79938	CGG		0.493	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		30	35	0	0	0	1	0	30	35				
PAX8	7849	broad.mit.edu	37	2	113977703	113977703	+	Silent	SNP	G	G	A	rs200817352		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113977703G>A	ENST00000429538.3	-	11	1436	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	PAX8_ENST00000397647.3_Missense_Mutation_p.A277V|PAX8_ENST00000263335.7_Missense_Mutation_p.A311V|PAX8_ENST00000348715.5_Missense_Mutation_p.A388V|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.A388V	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	414					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGCCTCGCTGTAGGAGG	0.617			T	PPARG	follicular thyroid		Thyroid dysgenesis						G|||	1	0.000199681	0.0	0.0	5008	,	,		18112	0.001		0.0	False		,,,				2504	0.0				Ovarian(188;7 2067 9084 29802 29892)	ENST00000348715.5				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(1162-1164)gCg>gTg		paired box 8		G	,VAL/ALA,VAL/ALA,VAL/ALA	1,3909		0,1,1954	36.0	37.0	37.0		1242,1163,932,830	-1.6	0.9	2		37	0,8272		0,0,4136	yes	coding-synonymous,missense,missense,missense	PAX8	NM_003466.3,NM_013952.3,NM_013953.3,NM_013992.3	,64,64,64	0,1,6090	AA,AG,GG		0.0,0.0256,0.0082	,,,	414/451,388/399,311/322,277/288	113977703	1,12181	1955	4136	6091	SO:0001819	synonymous_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113977703G>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1242C>T	2.37:g.113977703G>A						PAX8_ENST00000263334.5_Missense_Mutation_p.A388V|PAX8_ENST00000263335.7_Missense_Mutation_p.A311V|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000429538.3_Silent_p.S414S|PAX8_ENST00000397647.3_Missense_Mutation_p.A277V	p.A388V	NM_013952.3	NP_039246.1	Q06710	PAX8_HUMAN			11	1318	-			0					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.1163C>T	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.522|3.522	-0.097629|-0.097629	0.07010|0.07010	2.56E-4|2.56E-4	0.0|0.0	ENSG00000125618|ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000263334|ENST00000468980	D;D;D;D|.	0.97959|.	-4.63;-4.56;-4.42;-4.42|.	4.29|4.29	-1.58|-1.58	0.08479|0.08479	.|.	.|.	.|.	.|.	.|.	T|.	0.19725|.	0.0474|.	.|.	.|.	.|.	0.25680|0.25680	N|N	0.9858|0.9858	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|.	0.24119|.	-1.0169|.	8|.	0.62326|.	D|.	0.03|.	.|.	1.3681|1.3681	0.02205|0.02205	0.448:0.1485:0.2527:0.1508|0.448:0.1485:0.2527:0.1508	.|.	388;277;311|.	Q06710-3;Q06710-5;Q06710-4|.	.;.;.|.	V|X	311;277;388;388|137	ENSP00000263335:A311V;ENSP00000380768:A277V;ENSP00000314750:A388V;ENSP00000263334:A388V|.	ENSP00000263334:A388V|.	A|R	-|-	2|1	0|2	PAX8|PAX8	113694174|113694174	0.004000|0.004000	0.15560|0.15560	0.889000|0.889000	0.34880|0.34880	0.990000|0.990000	0.78478|0.78478	-0.678000|-0.678000	0.05209|0.05209	-0.621000|-0.621000	0.05633|0.05633	-0.444000|-0.444000	0.05651|0.05651	GCG|CGA		0.617	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	14	0	0	0	1	0	7	14				
TENC1	23371	broad.mit.edu	37	12	53445735	53445735	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53445735G>A	ENST00000314250.6	+	2	462	c.172G>A	c.(172-174)Gtt>Att	p.V58I	TENC1_ENST00000451358.1_Missense_Mutation_p.V58I|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000552570.1_Missense_Mutation_p.V58I|TENC1_ENST00000549700.1_Missense_Mutation_p.V58I|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.V68I|TENC1_ENST00000546602.1_Missense_Mutation_p.V58I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	58					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGGGACAGGCGTTTCGTGCAG	0.542																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(172-174)Gtt>Att		tensin like C1 domain containing phosphatase (tensin 2)							220.0	177.0	191.0					12																	53445735		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53445735G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.172G>A	12.37:g.53445735G>A	ENSP00000319684:p.Val58Ile					TENC1_ENST00000451358.1_Missense_Mutation_p.V58I|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.V58I|TENC1_ENST00000549700.1_Missense_Mutation_p.V58I|TENC1_ENST00000552570.1_Missense_Mutation_p.V58I|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000314276.3_Missense_Mutation_p.V68I	p.V58I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			2	462	+			58					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.172G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424930	0.43020	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.36	1.07	0.20283	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.361989	0.22016	N	0.065787	T	0.65780	0.2724	N	0.11201	0.11	0.09310	N	0.999998	B;B;B;B	0.19935	0.023;0.04;0.038;0.009	B;B;B;B	0.12837	0.003;0.006;0.008;0.007	T	0.53351	-0.8451	10	0.35671	T	0.21	-10.1651	4.6222	0.12461	0.2705:0.2034:0.5261:0.0	.	58;58;68;35	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	I	68;58;58;58;58;58;58	ENSP00000319756:V68I;ENSP00000319684:V58I;ENSP00000393362:V58I;ENSP00000449363:V58I;ENSP00000447021:V58I;ENSP00000449361:V58I	ENSP00000319684:V58I	V	+	1	0	TENC1	51732002	0.913000	0.31002	0.986000	0.45419	0.841000	0.47740	0.774000	0.26675	0.356000	0.24157	-0.119000	0.15052	GTT		0.542	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		15	34	0	0	0	1	0	15	34				
MYO9B	4650	broad.mit.edu	37	19	17212765	17212765	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17212765G>A	ENST00000594824.1	+	2	385	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A80T|CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.A80T			Q13459	MYO9B_HUMAN	myosin IXB	80	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGTGCTGGACGCCAACGACTC	0.632																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(238-240)Gcc>Acc		myosin IXB							49.0	55.0	53.0					19																	17212765		2089	4207	6296	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212765G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.238G>A	19.37:g.17212765G>A	ENSP00000471367:p.Ala80Thr					MYO9B_ENST00000397274.2_Missense_Mutation_p.A80T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A80T	p.A80T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	390	+			80			Myosin head-like.|Ras-associating.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	G	11.41	1.629578	0.28978	.	.	ENSG00000099331	ENST00000397274	T	0.17370	2.28	4.93	3.87	0.44632	Ras-association (3);	0.138273	0.33127	N	0.005242	T	0.10165	0.0249	L	0.29908	0.895	0.22127	N	0.999348	B;B;B	0.31519	0.327;0.327;0.327	B;B;B	0.28139	0.086;0.086;0.055	T	0.21999	-1.0229	10	0.49607	T	0.09	.	3.4103	0.07356	0.0964:0.1728:0.5524:0.1784	.	80;80;86	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	80	ENSP00000380444:A80T	ENSP00000380444:A80T	A	+	1	0	MYO9B	17073765	0.094000	0.21725	0.160000	0.22671	0.856000	0.48823	0.654000	0.24918	1.017000	0.39495	0.655000	0.94253	GCC		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	26	0	0	0	1	0	7	26				
STRIP1	85369	broad.mit.edu	37	1	110584162	110584162	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110584162C>A	ENST00000369795.3	+	7	677	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	STRIP1_ENST00000369796.1_Missense_Mutation_p.L124M	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	219					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCTCAGGGTCCTGCTCAACAT	0.547																																						ENST00000369795.3																			0											c.(655-657)Ctg>Atg		striatin interacting protein 1							80.0	71.0	74.0					1																	110584162		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110584162C>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.655C>A	1.37:g.110584162C>A	ENSP00000358810:p.Leu219Met					STRIP1_ENST00000369796.1_Missense_Mutation_p.L124M	p.L219M	NM_033088.2	NP_149079.2					7	677	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.655C>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029520	0.75504	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.49720	0.78;0.77	6.17	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;0.961	D;D	0.79108	0.992;0.938	T	0.66048	-0.6020	10	0.62326	D	0.03	-17.1271	12.046	0.53480	0.0:0.8589:0.0:0.1411	.	124;219	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	M	124;219	ENSP00000358811:L124M;ENSP00000358810:L219M	ENSP00000358810:L219M	L	+	1	2	FAM40A	110385685	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.058000	0.49939	0.912000	0.36772	-0.140000	0.14226	CTG		0.547	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		9	24	1	0	0.000274275	1	0.000279654	9	24				
STAU2	27067	broad.mit.edu	37	8	74600977	74600977	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:74600977C>A	ENST00000521419.1	-	4	378	c.72G>T	c.(70-72)caG>caT	p.Q24H	STAU2_ENST00000519961.1_Missense_Mutation_p.Q62H|STAU2_ENST00000524300.1_Missense_Mutation_p.Q62H|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.Q30H|STAU2_ENST00000521451.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.Q30H|STAU2_ENST00000355780.5_Missense_Mutation_p.Q30H|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.Q24H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q30H|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521727.1_Missense_Mutation_p.Q42H			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	62	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CAACAGCCTGCTGAGCCTTCT	0.428																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(88-90)caG>caT		staufen double-stranded RNA binding protein 2							202.0	183.0	190.0					8																	74600977		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74600977C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.72G>T	8.37:g.74600977C>A	ENSP00000428681:p.Gln24His					STAU2_ENST00000517542.1_Missense_Mutation_p.Q24H|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.Q30H|STAU2_ENST00000522695.1_Missense_Mutation_p.Q30H|STAU2_ENST00000519961.1_Missense_Mutation_p.Q62H|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.Q24H|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_Missense_Mutation_p.Q62H|STAU2_ENST00000521727.1_Missense_Mutation_p.Q42H|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Missense_Mutation_p.Q30H|STAU2_ENST00000521210.1_Intron	p.Q30H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		4	308	-	Breast(64;0.0138)		62			DRBM 1.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521419.1	37	c.90G>T		.	.	.	.	.	.	.	.	.	.	T	13.51	2.258380	0.39896	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000521447;ENST00000524104;ENST00000521419;ENST00000521736	T;T;T;T;T;T;T;T	0.77620	0.6;-1.11;0.62;-1.11;0.57;0.62;0.62;0.21	5.73	-5.44	0.02624	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.92412	3.305	0.48696	D	0.999694	B;B;B;B;B;B;B	0.21309	0.028;0.028;0.028;0.047;0.005;0.006;0.054	B;B;B;B;B;B;B	0.33254	0.012;0.012;0.016;0.027;0.011;0.003;0.16	T	0.69800	-0.5047	10	0.72032	D	0.01	-36.8174	14.6551	0.68828	0.0877:0.5907:0.0:0.3216	.	42;30;24;30;62;30;62	E7EPX0;A8K276;E5RGT3;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	H	30;62;30;62;42;30;24;30;30;24;30	ENSP00000428456:Q30H;ENSP00000428756:Q62H;ENSP00000348026:Q30H;ENSP00000430907:Q62H;ENSP00000429973:Q42H;ENSP00000427977:Q30H;ENSP00000431111:Q24H;ENSP00000428829:Q30H	ENSP00000348026:Q30H	Q	-	3	2	STAU2	74763531	0.016000	0.18221	0.703000	0.30354	0.794000	0.44872	-1.065000	0.03458	-1.328000	0.02261	-1.033000	0.02402	CAG		0.428	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379012.2	NM_001164380		59	87	1	0	5.82218e-30	1	6.52265e-30	59	87				
ZFAT	57623	broad.mit.edu	37	8	135649893	135649893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:135649893C>A	ENST00000377838.3	-	3	433	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E75*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E87*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E75*	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	87					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTCCTCTTCTGTGCTGGAC	0.547																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(223-225)Gaa>Taa		zinc finger and AT hook domain containing							131.0	129.0	130.0					8																	135649893		2140	4246	6386	SO:0001587	stop_gained	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649893C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.259G>T	8.37:g.135649893C>A	ENSP00000367069:p.Glu87*					ZFAT_ENST00000520356.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.E75*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.E75*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.E87*|ZFAT_ENST00000377838.3_Nonsense_Mutation_p.E87*	p.E75*	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	522	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		87					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	c.223G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	37	6.198903	0.97371	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	.	.	.	5.09	4.15	0.48705	.	0.464109	0.20012	N	0.101112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-23.4383	13.3943	0.60840	0.1578:0.8422:0.0:0.0	.	.	.	.	X	75;75;75;87;75;75;87;75;25;75	.	ENSP00000326997:E75X	E	-	1	0	ZFAT	135719075	0.992000	0.36948	0.694000	0.30210	0.417000	0.31264	3.679000	0.54634	2.367000	0.80283	0.561000	0.74099	GAA		0.547	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	96	1	0	0.014758	1	0.0148771	5	96				
TFIP11	24144	broad.mit.edu	37	22	26888203	26888203	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26888203C>T	ENST00000407690.1	-	15	2573	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	TFIP11_ENST00000407148.1_Missense_Mutation_p.V764M|TFIP11_ENST00000407431.1_Missense_Mutation_p.V764M|SRRD_ENST00000215917.7_3'UTR|TFIP11_ENST00000405938.1_Missense_Mutation_p.V764M	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	764					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTAGCGGCCACGCCAATGCCC	0.572																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2290-2292)Gtg>Atg		tuftelin interacting protein 11							116.0	89.0	98.0					22																	26888203		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888203C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.2290G>A	22.37:g.26888203C>T	ENSP00000384421:p.Val764Met					TFIP11_ENST00000407148.1_Missense_Mutation_p.V764M|TFIP11_ENST00000407431.1_Missense_Mutation_p.V764M|TFIP11_ENST00000405938.1_Missense_Mutation_p.V764M	p.V764M	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2573	-			764					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2290G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592612	0.28357	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	4.36	0.52297	.	0.463445	0.22652	N	0.057304	T	0.25606	0.0623	N	0.14661	0.345	0.22330	N	0.999198	B;B	0.15473	0.001;0.013	B;B	0.11329	0.001;0.006	T	0.09596	-1.0667	10	0.45353	T	0.12	-26.6798	10.397	0.44207	0.0:0.8521:0.0:0.1479	.	764;123	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	M	764;764;764;449;764	ENSP00000384421:V764M;ENSP00000383892:V764M;ENSP00000385861:V764M;ENSP00000384297:V764M	ENSP00000384297:V764M	V	-	1	0	TFIP11	25218203	0.040000	0.19996	0.952000	0.39060	0.887000	0.51463	0.409000	0.21082	2.804000	0.96469	0.655000	0.94253	GTG		0.572	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		20	26	0	0	0	1	0	20	26				
IRS1	3667	broad.mit.edu	37	2	227662817	227662817	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:227662817C>T	ENST00000305123.5	-	1	1658	c.638G>A	c.(637-639)cGc>cAc	p.R213H	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	213	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGCCACAGCGCCTGATGTT	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(637-639)cGc>cAc		insulin receptor substrate 1							70.0	74.0	73.0					2																	227662817		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662817C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.638G>A	2.37:g.227662817C>T	ENSP00000304895:p.Arg213His		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R213H	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1658	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	213			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.638G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949130	0.92660	.	.	ENSG00000169047	ENST00000305123	T	0.60548	0.18	5.78	5.78	0.91487	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.64402	D	0.000002	T	0.80954	0.4723	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83304	-0.0026	10	0.87932	D	0	-44.5186	20.0016	0.97412	0.0:1.0:0.0:0.0	.	213	P35568	IRS1_HUMAN	H	213	ENSP00000304895:R213H	ENSP00000304895:R213H	R	-	2	0	IRS1	227371061	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.731000	0.93534	0.555000	0.69702	CGC		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		16	29	0	0	0	1	0	16	29				
FMO2	2327	broad.mit.edu	37	1	171174642	171174642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171174642C>T	ENST00000209929.7	+	7	1210	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.S351L|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	350					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATATGGTCTCACTGTATAAA	0.428																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1051-1053)tCa>tTa		flavin containing monooxygenase 2 (non-functional)							90.0	86.0	87.0					1																	171174642		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174642C>T	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1052C>T	1.37:g.171174642C>T	ENSP00000209929:p.Ser351Leu					RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S351L|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA	p.S351L	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1169	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		351					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1052C>T	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650264	0.29336	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.58210	0.35;0.35	5.85	2.69	0.31865	.	0.237789	0.44097	D	0.000490	T	0.31104	0.0786	M	0.74881	2.28	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.32161	-0.9917	10	0.34782	T	0.22	-6.5803	10.2116	0.43145	0.1326:0.7742:0.0:0.0932	.	351	Q99518	FMO2_HUMAN	L	351	ENSP00000209929:S351L;ENSP00000405905:S351L	ENSP00000209929:S351L	S	+	2	0	FMO2	169441266	0.780000	0.28664	0.665000	0.29768	0.569000	0.35902	1.570000	0.36439	0.829000	0.34733	0.655000	0.94253	TCA		0.428	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		15	26	0	0	0	1	0	15	26				
CX3CL1	6376	broad.mit.edu	37	16	57413554	57413554	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57413554C>A	ENST00000006053.6	+	2	190	c.79C>A	c.(79-81)Cac>Aac	p.H27N	CX3CL1_ENST00000563383.1_Missense_Mutation_p.H33N|CX3CL1_ENST00000565912.1_5'UTR|CX3CL1_ENST00000564948.1_Intron	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	27	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGACAGCACCACGGTGTGAC	0.537																																						ENST00000006053.6																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(79-81)Cac>Aac		chemokine (C-X3-C motif) ligand 1							144.0	103.0	117.0					16																	57413554		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57413554C>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.79C>A	16.37:g.57413554C>A	ENSP00000006053:p.His27Asn					CX3CL1_ENST00000565912.1_5'UTR|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.H33N	p.H27N	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN			2	190	+			27			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.79C>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375285	0.11409	.	.	ENSG00000006210	ENST00000006053	T	0.13538	2.58	3.26	2.31	0.28768	Chemokine interleukin-8-like domain (1);	2.705570	0.02415	N	0.082059	T	0.10252	0.0251	N	0.24115	0.695	0.20926	N	0.999825	B	0.33073	0.396	B	0.23574	0.047	T	0.25779	-1.0122	10	0.87932	D	0	-11.9967	6.5199	0.22269	0.0:0.8674:0.0:0.1326	.	27	P78423	X3CL1_HUMAN	N	27	ENSP00000006053:H27N	ENSP00000006053:H27N	H	+	1	0	CX3CL1	55971055	0.002000	0.14202	0.046000	0.18839	0.137000	0.21094	0.966000	0.29331	0.969000	0.38237	0.456000	0.33151	CAC		0.537	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		11	21	1	0	4.68919e-08	1	4.93693e-08	11	21				
SCN10A	6336	broad.mit.edu	37	3	38783942	38783942	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38783942G>T	ENST00000449082.2	-	13	1945	c.1946C>A	c.(1945-1947)cCc>cAc	p.P649H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	649					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACCCACATGGGGCAGCAATC	0.502																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1945-1947)cCc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						161.0	145.0	151.0					3																	38783942		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38783942G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1946C>A	3.37:g.38783942G>T	ENSP00000390600:p.Pro649His						p.P649H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	13	1945	-			649					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1946C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730261	0.69074	.	.	ENSG00000185313	ENST00000449082	D	0.96334	-3.98	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.81802	2.56	0.38712	D	0.953242	D	0.60160	0.987	P	0.53988	0.739	D	0.97294	0.9926	10	0.52906	T	0.07	.	12.3227	0.54993	0.0:0.0:0.8308:0.1692	.	649	Q9Y5Y9	SCNAA_HUMAN	H	649	ENSP00000390600:P649H	ENSP00000390600:P649H	P	-	2	0	SCN10A	38758946	1.000000	0.71417	0.781000	0.31783	0.766000	0.43426	3.535000	0.53575	2.445000	0.82738	0.585000	0.79938	CCC		0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		23	45	1	0	2.32416e-17	1	2.5579e-17	23	45				
AJUBA	84962	broad.mit.edu	37	14	23444069	23444069	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23444069G>A	ENST00000262713.2	-	6	1776	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	AJUBA_ENST00000397388.3_Silent_p.G50G|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.G467G	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	467	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GGATGGGTTGGCCACAGGCTG	0.572																																						ENST00000262713.2																			0											c.(1399-1401)ggC>ggT		ajuba LIM protein							101.0	90.0	94.0					14																	23444069		2203	4300	6503	SO:0001819	synonymous_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444069G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1401C>T	14.37:g.23444069G>A						RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Silent_p.G50G|AJUBA_ENST00000361265.4_Silent_p.G467G	p.G467G	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			6	1776	-			467			LIM zinc-binding 3.		A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	c.1401C>T	CCDS9581.1																																																																																				0.572	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			15	17	0	0	0	1	0	15	17				
PHACTR4	65979	broad.mit.edu	37	1	28793151	28793151	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28793151G>T	ENST00000373839.3	+	6	956	c.695G>T	c.(694-696)aGg>aTg	p.R232M	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R242M	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	232	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCCAGGACTCTGCCT	0.582																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(694-696)aGg>aTg		phosphatase and actin regulator 4							55.0	64.0	61.0					1																	28793151		2109	4228	6337	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28793151G>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.695G>T	1.37:g.28793151G>T	ENSP00000362945:p.Arg232Met					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R242M	p.R232M	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	6	956	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	232			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.695G>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906934	0.52333	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.26660	1.72;1.8	5.55	4.64	0.57946	.	0.165305	0.53938	D	0.000050	T	0.43299	0.1241	L	0.46157	1.445	0.46478	D	0.999062	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.31194	-0.9952	10	0.56958	D	0.05	-5.1548	13.1298	0.59375	0.0779:0.0:0.9221:0.0	.	242;232;216	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	M	232;242;231	ENSP00000362945:R232M;ENSP00000362942:R242M	ENSP00000362942:R242M	R	+	2	0	PHACTR4	28665738	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.090000	0.50191	1.348000	0.45733	0.561000	0.74099	AGG		0.582	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		19	27	1	0	2.94398e-08	1	3.10271e-08	19	27				
ZDHHC17	23390	broad.mit.edu	37	12	77244672	77244672	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:77244672C>T	ENST00000426126.2	+	17	2455	c.1806C>T	c.(1804-1806)tgC>tgT	p.C602C	ZDHHC17_ENST00000334822.5_Silent_p.C602C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	602					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AATTTCGATGCTGTGGCCTCT	0.408																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1804-1806)tgC>tgT		zinc finger, DHHC-type containing 17							157.0	157.0	157.0					12																	77244672		1902	4124	6026	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77244672C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1806C>T	12.37:g.77244672C>T						ZDHHC17_ENST00000334822.5_Silent_p.C602C	p.C602C	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			17	2455	+			602					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.1806C>T	CCDS44946.1																																																																																				0.408	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		36	68	0	0	0	1	0	36	68				
SMOX	54498	broad.mit.edu	37	20	4167394	4167394	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:4167394G>A	ENST00000305958.4	+	7	1755				SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.G459E|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase						cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	caccagcatggaagctccaca	0.512																																						ENST00000278795.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1375-1377)gGa>gAa		spermine oxidase	Spermine(DB00127)						92.0	85.0	87.0					20																	4167394		2203	4300	6503	SO:0001627	intron_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4167394G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1531-523G>A	20.37:g.4167394G>A						SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000305958.4_Intron|SMOX_ENST00000339123.6_Intron	p.G459E	NM_175842.1	NP_787036.1	Q9NWM0	SMOX_HUMAN			8	1601	+			510					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1376G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021971	0.35701	.	.	ENSG00000088826	ENST00000278795;ENST00000457205	T;T	0.28666	1.61;1.6	3.34	3.34	0.38264	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	B;D	0.69078	0.205;0.997	B;D	0.70487	0.062;0.969	T	0.10660	-1.0620	8	0.08381	T	0.77	.	10.478	0.44676	0.0:0.0:1.0:0.0	.	512;459	Q9NWM0-6;Q9NWM0-4	.;.	E	459;369	ENSP00000278795:G459E;ENSP00000407269:G369E	ENSP00000278795:G459E	G	+	2	0	SMOX	4115394	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.708000	0.54845	2.177000	0.69029	0.655000	0.94253	GGA		0.512	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		17	96	0	0	0	1	0	17	96				
ZNF574	64763	broad.mit.edu	37	19	42585299	42585299	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42585299G>A	ENST00000600245.1	+	2	3196	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.Q847Q|ZNF574_ENST00000222339.7_Silent_p.Q937Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	847					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ATCAGCAGCAGCATCAGGCAG	0.642																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2539-2541)caG>caA		zinc finger protein 574							62.0	66.0	65.0					19																	42585299		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585299G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2541G>A	19.37:g.42585299G>A						ZNF574_ENST00000359044.4_Silent_p.Q847Q|ZNF574_ENST00000222339.7_Silent_p.Q937Q	p.Q847Q			Q6ZN55	ZN574_HUMAN			2	3196	+		Prostate(69;0.059)	847					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.2541G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	3.014	-0.203304	0.06180	.	.	ENSG00000105732	ENST00000535775	.	.	.	4.71	3.65	0.41850	.	.	.	.	.	T	0.34135	0.0887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12889	-1.0530	5	0.02654	T	1	-20.8292	12.3237	0.54999	0.0857:0.0:0.9143:0.0	.	.	.	.	N	454	.	ENSP00000445515:S454N	S	+	2	0	ZNF574	47277139	0.698000	0.27777	1.000000	0.80357	0.966000	0.64601	0.000000	0.12993	1.174000	0.42811	0.460000	0.39030	AGC		0.642	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		7	50	0	0	0	1	0	7	50				
CNTNAP1	8506	broad.mit.edu	37	17	40845554	40845554	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40845554G>A	ENST00000264638.4	+	18	3209	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	998					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTGCAACCACGGTAAGTGCTG	0.542																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.e18+1		contactin associated protein 1							100.0	95.0	96.0					17																	40845554		2203	4300	6503	SO:0001630	splice_region_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40845554G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2992+1G>A	17.37:g.40845554G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.D998_splice	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3209	+		Breast(137;0.000143)	998						Splice_Site	SNP	ENST00000264638.4	37	c.2992_splice	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607082	0.87157	.	.	ENSG00000108797	ENST00000264638	T	0.79141	-1.24	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.72653	0.3487	L	0.52126	1.63	0.58432	D	0.999999	P	0.43287	0.802	B	0.34180	0.177	T	0.74853	-0.3523	10	0.44086	T	0.13	.	19.815	0.96564	0.0:0.0:1.0:0.0	.	998	P78357	CNTP1_HUMAN	N	998	ENSP00000264638:D998N	ENSP00000264638:D998N	D	+	1	0	CNTNAP1	38099080	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.654000	0.74387	2.681000	0.91329	0.561000	0.74099	GAT		0.542	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Missense_Mutation	12	70	0	0	0	1	0	12	70				
UTP20	27340	broad.mit.edu	37	12	101727206	101727206	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101727206G>A	ENST00000261637.4	+	28	3719	c.3545G>A	c.(3544-3546)gGt>gAt	p.G1182D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1182					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTTTCATGGTGCAGTTTGG	0.378																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3544-3546)gGt>gAt		UTP20, small subunit (SSU) processome component, homolog (yeast)							168.0	168.0	168.0					12																	101727206		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101727206G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3545G>A	12.37:g.101727206G>A	ENSP00000261637:p.Gly1182Asp						p.G1182D	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			28	3719	+			1182					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3545G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146186	0.57044	.	.	ENSG00000120800	ENST00000261637	T	0.16897	2.31	5.76	5.76	0.90799	Armadillo-type fold (1);	0.110201	0.64402	D	0.000008	T	0.18718	0.0449	L	0.40543	1.245	0.42134	D	0.991485	P	0.51240	0.943	P	0.47470	0.548	T	0.02064	-1.1220	10	0.11794	T	0.64	-20.2009	14.7327	0.69393	0.0:0.2521:0.7479:0.0	.	1182	O75691	UTP20_HUMAN	D	1182	ENSP00000261637:G1182D	ENSP00000261637:G1182D	G	+	2	0	UTP20	100251337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.724000	0.54962	2.882000	0.98803	0.655000	0.94253	GGT		0.378	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		55	71	0	0	0	1	0	55	71				
PPRC1	23082	broad.mit.edu	37	10	103900822	103900822	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103900822C>T	ENST00000278070.2	+	5	2596	c.2557C>T	c.(2557-2559)Cca>Tca	p.P853S	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.P853S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	853	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGGAGATGCCACTGTTGGC	0.617																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2557-2559)Cca>Tca		peroxisome proliferator-activated receptor gamma, coactivator-related 1							171.0	134.0	146.0					10																	103900822		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900822C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2557C>T	10.37:g.103900822C>T	ENSP00000278070:p.Pro853Ser					PPRC1_ENST00000413464.2_Missense_Mutation_p.P853S	p.P853S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2596	+		Colorectal(252;0.122)	853			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2557C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294075	0.40594	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.32272	1.6;1.46	5.38	4.46	0.54185	.	1.597240	0.03662	N	0.242786	T	0.29256	0.0728	L	0.27053	0.805	0.27962	N	0.936732	B;B;B	0.21821	0.036;0.061;0.036	B;B;B	0.23419	0.021;0.046;0.021	T	0.30822	-0.9965	10	0.30078	T	0.28	.	13.613	0.62091	0.0:0.9223:0.0:0.0777	.	853;733;853	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	853	ENSP00000278070:P853S;ENSP00000399743:P853S	ENSP00000278070:P853S	P	+	1	0	PPRC1	103890812	0.002000	0.14202	0.747000	0.31113	0.331000	0.28603	0.886000	0.28241	1.369000	0.46134	0.561000	0.74099	CCA		0.617	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		19	22	0	0	0	1	0	19	22				
ACE	1636	broad.mit.edu	37	17	61557711	61557711	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61557711G>T	ENST00000290866.4	+	5	693	c.669G>T	c.(667-669)acG>acT	p.T223T	ACE_ENST00000428043.1_Silent_p.T223T|ACE_ENST00000538928.1_Silent_p.T223T|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				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)			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)	TCACAGACACGGGGGCCTACT	0.612																																						ENST00000290866.4																			0				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						c.(667-669)acG>acT		angiotensin I converting enzyme	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)						87.0	79.0	82.0					17																	61557711		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:61557711G>T	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.669G>T	17.37:g.61557711G>T						ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.T223T|ACE_ENST00000538928.1_Silent_p.T223T	p.T223T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	693	+			223			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.669G>T	CCDS11637.1																																																																																				0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	15	1	0	1.12685e-05	1	1.16601e-05	7	15				
MYCBP2	23077	broad.mit.edu	37	13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:77671856A>G	ENST00000544440.2	-	56	9336	c.9319T>C	c.(9319-9321)Tcc>Ccc	p.S3107P	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S3145P					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATGCATGGACATTTCAAAA	0.403																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9433-9435)Tcc>Ccc		MYC binding protein 2, E3 ubiquitin protein ligase							129.0	112.0	118.0					13																	77671856		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77671856A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9319T>C	13.37:g.77671856A>G	ENSP00000444596:p.Ser3107Pro					MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P	p.S3145P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9699	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3107						Missense_Mutation	SNP	ENST00000544440.2	37	c.9433T>C		.	.	.	.	.	.	.	.	.	.	A	10.65	1.409384	0.25378	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.58;1.58;1.58	5.57	4.37	0.52481	.	0.062205	0.64402	D	0.000003	T	0.14874	0.0359	N	0.08118	0	0.43164	D	0.994955	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.06570	-1.0819	10	0.35671	T	0.21	.	7.2937	0.26380	0.7809:0.1467:0.0724:0.0	.	493;3107;3107	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	P	3107;3145;3107	ENSP00000349892:S3107P;ENSP00000384288:S3145P;ENSP00000444596:S3107P	ENSP00000349892:S3107P	S	-	1	0	MYCBP2	76569857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.173000	0.58249	0.918000	0.36919	0.533000	0.62120	TCC		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		24	11	0	0	0	1	0	24	11				
ANKRD49	54851	broad.mit.edu	37	11	94231249	94231249	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94231249C>T	ENST00000544612.1	+	3	768	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W|ANKRD49_ENST00000540349.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	91					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.R91W(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCACAGTGCGGAGACTCCT	0.383																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544612.1																			2	Substitution - Missense(2)	p.R91W(2)	large_intestine(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(271-273)Cgg>Tgg		ankyrin repeat domain 49							47.0	48.0	48.0					11																	94231249		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231249C>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.271C>T	11.37:g.94231249C>T	ENSP00000440396:p.Arg91Trp					ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W	p.R91W	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN			3	768	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	91					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.271C>T	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621846	0.66787	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000545130;ENST00000302755	T;T;T	0.67523	-0.27;-0.27;-0.27	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.912497	0.09637	N	0.775476	T	0.81442	0.4823	M	0.84156	2.68	0.09310	N	1	D	0.57571	0.98	P	0.55303	0.773	T	0.73861	-0.3849	10	0.87932	D	0	-2.4181	16.2596	0.82533	0.1404:0.8596:0.0:0.0	.	91	Q8WVL7	ANR49_HUMAN	W	91;50;126;91	ENSP00000440396:R91W;ENSP00000442449:R50W;ENSP00000303518:R91W	ENSP00000303518:R91W	R	+	1	2	ANKRD49	93870897	0.009000	0.17119	0.845000	0.33349	0.785000	0.44390	1.673000	0.37534	2.885000	0.99019	0.655000	0.94253	CGG		0.383	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		10	16	0	0	0	1	0	10	16				
ARRDC4	91947	broad.mit.edu	37	15	98512457	98512457	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98512457A>G	ENST00000268042.6	+	5	894	c.730A>G	c.(730-732)Aca>Gca	p.T244A	ARRDC4_ENST00000538249.1_Missense_Mutation_p.T157A	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	244					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TAGTGGAAAAACAAAGACCAT	0.438																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(730-732)Aca>Gca		arrestin domain containing 4							92.0	83.0	86.0					15																	98512457		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98512457A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.730A>G	15.37:g.98512457A>G	ENSP00000268042:p.Thr244Ala					ARRDC4_ENST00000538249.1_Missense_Mutation_p.T157A	p.T244A	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	894	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		244					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.730A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902166	0.72754	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.05996	3.36;3.36	5.11	5.11	0.69529	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.071898	0.56097	D	0.000022	T	0.12347	0.0300	M	0.67625	2.065	0.46631	D	0.999131	P;B	0.42456	0.78;0.252	B;B	0.43301	0.415;0.066	T	0.01587	-1.1318	10	0.48119	T	0.1	-5.4581	15.1847	0.72989	1.0:0.0:0.0:0.0	.	244;157	Q8NCT1;F5H824	ARRD4_HUMAN;.	A	157;244	ENSP00000443774:T157A;ENSP00000268042:T244A	ENSP00000268042:T244A	T	+	1	0	ARRDC4	96313461	1.000000	0.71417	0.061000	0.19648	0.926000	0.56050	7.256000	0.78350	2.052000	0.61016	0.482000	0.46254	ACA		0.438	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		21	31	0	0	0	1	0	21	31				
WISP3	8838	broad.mit.edu	37	6	112386138	112386138	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:112386138A>G	ENST00000368666.2	+	3	813	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	WISP3_ENST00000230529.5_Missense_Mutation_p.Q176R|WISP3_ENST00000604763.1_Missense_Mutation_p.Q176R|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000361714.1_Missense_Mutation_p.Q194R|WISP3_ENST00000368663.3_Missense_Mutation_p.Q153R	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	176					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AAGTCTGATCAGTCAAACTGT	0.478																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(580-582)cAg>cGg		WNT1 inducible signaling pathway protein 3							128.0	121.0	124.0					6																	112386138		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112386138A>G	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.527A>G	6.37:g.112386138A>G	ENSP00000357655:p.Gln176Arg					WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000604763.1_Missense_Mutation_p.Q176R|WISP3_ENST00000368663.3_Missense_Mutation_p.Q153R|WISP3_ENST00000368666.2_Missense_Mutation_p.Q176R|WISP3_ENST00000230529.5_Missense_Mutation_p.Q176R	p.Q194R			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	3	626	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	176					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.581A>G	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.459876	0.26248	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.79352	-1.24;-1.24;-1.26;-1.24	5.44	-2.12	0.07165	.	1.862450	0.04039	U	0.302790	T	0.41926	0.1180	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.001	T	0.23297	-1.0192	10	0.46703	T	0.11	-2.7881	2.7628	0.05312	0.4888:0.2773:0.1306:0.1034	.	194;176	O95389-2;O95389	.;WISP3_HUMAN	R	176;176;194;176;153	ENSP00000357655:Q176R;ENSP00000230529:Q176R;ENSP00000354734:Q194R;ENSP00000357652:Q153R	ENSP00000230529:Q176R	Q	+	2	0	WISP3	112492831	0.001000	0.12720	0.001000	0.08648	0.861000	0.49209	1.016000	0.29976	-0.229000	0.09854	0.454000	0.30748	CAG		0.478	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		41	51	0	0	0	1	0	41	51				
NPRL3	8131	broad.mit.edu	37	16	169162	169162	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:169162A>G	ENST00000399953.3	-	3	683	c.281T>C	c.(280-282)gTt>gCt	p.V94A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	94					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TGGGTGCCCAACAAATCGCAC	0.493																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(280-282)gTt>gCt		nitrogen permease regulator-like 3 (S. cerevisiae)							88.0	91.0	90.0					16																	169162		1977	4153	6130	SO:0001583	missense	8131						protein binding	g.chr16:169162A>G		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.281T>C	16.37:g.169162A>G	ENSP00000382834:p.Val94Ala					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	p.V94A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			3	683	-			94					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.281T>C		.	.	.	.	.	.	.	.	.	.	A	21.3	4.135633	0.77662	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000419636	.	.	.	5.18	5.18	0.71444	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.983;0.999;0.997;0.992	P;D;D;D	0.79108	0.904;0.984;0.992;0.989	T	0.82096	-0.0626	8	0.87932	D	0	-20.4455	14.5017	0.67727	1.0:0.0:0.0:0.0	.	16;94;94;94	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	A	94;94;107	.	ENSP00000262313:V94A	V	-	2	0	NPRL3	109162	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.948000	0.93006	2.077000	0.62373	0.533000	0.62120	GTT		0.493	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		3	4	0	0	0	1	0	3	4				
RANGRF	29098	broad.mit.edu	37	17	8193159	8193159	+	Missense_Mutation	SNP	G	G	A	rs552055941	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8193159G>A	ENST00000226105.6	+	5	758	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000580340.1_Intron|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000439238.3_3'UTR	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	156					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						TCTTGGCCCCGAAAATCTGTC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.002					ENST00000226105.6																			0				endometrium(1)	1						c.(466-468)Gaa>Aaa		RAN guanine nucleotide release factor							108.0	105.0	106.0					17																	8193159		2203	4300	6503	SO:0001583	missense	29098				protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity	g.chr17:8193159G>A	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.466G>A	17.37:g.8193159G>A	ENSP00000226105:p.Glu156Lys					SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000380067.2_Intron|RANGRF_ENST00000407006.4_3'UTR|RANGRF_ENST00000580434.1_3'UTR|SLC25A35_ENST00000579192.1_Intron	p.E156K	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN			5	758	+			156					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	Missense_Mutation	SNP	ENST00000226105.6	37	c.466G>A	CCDS11137.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660703	0.29515	.	.	ENSG00000108961	ENST00000226105	T	0.76578	-1.03	5.61	3.46	0.39613	Mog1/PsbP, alpha/beta/alpha sandwich (1);Mog1/PsbP/DUF1795, alpha/beta/alpha sandwich (1);	0.385828	0.25820	N	0.028089	T	0.55862	0.1947	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48364	-0.9042	10	0.07644	T	0.81	-0.399	7.3064	0.26451	0.0913:0.1706:0.7381:0.0	.	156	Q9HD47	MOG1_HUMAN	K	156	ENSP00000226105:E156K	ENSP00000226105:E156K	E	+	1	0	RANGRF	8133884	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.254000	0.43214	2.633000	0.89246	0.511000	0.50034	GAA		0.537	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	NM_016492		36	64	0	0	0	1	0	36	64				
MAST4	375449	broad.mit.edu	37	5	66461160	66461160	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:66461160G>A	ENST00000403625.2	+	29	6448	c.6153G>A	c.(6151-6153)gcG>gcA	p.A2051A	MAST4_ENST00000261569.7_Silent_p.A1857A|MAST4_ENST00000405643.1_Silent_p.A1872A|MAST4_ENST00000403666.1_Silent_p.A1862A|MAST4_ENST00000404260.3_Silent_p.A2054A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2054						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGGTGAGGCGAGGCCCCCGC	0.607																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6160-6162)gcG>gcA		microtubule associated serine/threonine kinase family member 4							33.0	41.0	38.0					5																	66461160		1970	4141	6111	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461160G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6153G>A	5.37:g.66461160G>A						MAST4_ENST00000261569.7_Silent_p.A1857A|MAST4_ENST00000403625.2_Silent_p.A2051A|MAST4_ENST00000403666.1_Silent_p.A1862A|MAST4_ENST00000405643.1_Silent_p.A1872A	p.A2054A			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6470	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2054					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.6162G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	4.798	0.148299	0.09134	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.89	-1.96	0.07525	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.44547	D	0.997502	.	.	.	.	.	.	T	0.29243	-1.0018	4	.	.	.	3.1975	2.0671	0.03605	0.3538:0.1949:0.3439:0.1074	.	.	.	.	K	1108	.	.	E	+	1	0	MAST4	66496916	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-1.003000	0.03682	-0.213000	0.10094	-0.244000	0.11960	GAG		0.607	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			12	21	0	0	0	1	0	12	21				
SP110	3431	broad.mit.edu	37	2	231050721	231050721	+	Missense_Mutation	SNP	G	G	A	rs556856317		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231050721G>A	ENST00000358662.4	-	11	1346	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	SP110_ENST00000392048.3_Missense_Mutation_p.S421F|SP110_ENST00000338556.3_Missense_Mutation_p.S125F|SP110_ENST00000258382.5_Missense_Mutation_p.S423F|SP110_ENST00000540870.1_Missense_Mutation_p.S429F|SP110_ENST00000258381.6_Missense_Mutation_p.S423F	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	423					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTTCAATCTGGACTTTCGGGC	0.448																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1267-1269)tCc>tTc		SP110 nuclear body protein							225.0	196.0	206.0					2																	231050721		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231050721G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1268C>T	2.37:g.231050721G>A	ENSP00000351488:p.Ser423Phe					SP110_ENST00000392048.3_Missense_Mutation_p.S421F|SP110_ENST00000338556.3_Missense_Mutation_p.S125F|SP110_ENST00000540870.1_Missense_Mutation_p.S429F|SP110_ENST00000358662.4_Missense_Mutation_p.S423F|SP110_ENST00000258382.5_Missense_Mutation_p.S423F	p.S423F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	11	1345	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	423					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1268C>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641828	0.29157	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.74106	0.52;0.36;-0.81;-0.78;-0.76;1.91	2.46	1.57	0.23409	.	0.617002	0.12642	N	0.451230	T	0.76615	0.4012	L	0.42245	1.32	0.09310	N	1	P;P;P;P;P	0.50528	0.782;0.936;0.782;0.879;0.926	D;P;D;B;P	0.63703	0.917;0.474;0.917;0.35;0.552	T	0.62996	-0.6735	10	0.87932	D	0	.	5.1526	0.15017	0.1739:0.0:0.8261:0.0	.	421;125;429;423;423	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	F	423;423;421;423;429;125	ENSP00000258381:S423F;ENSP00000351488:S423F;ENSP00000375902:S421F;ENSP00000258382:S423F;ENSP00000439558:S429F;ENSP00000344049:S125F	ENSP00000258381:S423F	S	-	2	0	SP110	230758965	0.015000	0.18098	0.001000	0.08648	0.019000	0.09904	2.088000	0.41663	0.591000	0.29711	0.305000	0.20034	TCC		0.448	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		53	81	0	0	0	1	0	53	81				
NBR1	4077	broad.mit.edu	37	17	41345493	41345493	+	Silent	SNP	G	G	A	rs367563168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41345493G>A	ENST00000422280.1	+	12	1821	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	NBR1_ENST00000341165.6_Silent_p.T454T|NBR1_ENST00000590996.1_Silent_p.T454T|NBR1_ENST00000389312.4_Silent_p.T454T|NBR1_ENST00000589872.1_Silent_p.T454T|NBR1_ENST00000542611.1_Silent_p.T433T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	454					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGGAGGGAACGTATACTTCCC	0.532																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1360-1362)acG>acA		neighbor of BRCA1 gene 1		G	,,	0,3810		0,0,1905	88.0	84.0	85.0		1362,1362,1362	-10.2	0.8	17		85	1,8221		0,1,4110	no	coding-synonymous,coding-synonymous,coding-synonymous	NBR1	NM_005899.3,NM_031858.2,NM_031862.2	,,	0,1,6015	AA,AG,GG		0.0122,0.0,0.0083	,,	454/967,454/967,454/967	41345493	1,12031	1905	4111	6016	SO:0001819	synonymous_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41345493G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1362G>A	17.37:g.41345493G>A						NBR1_ENST00000341165.6_Silent_p.T454T|NBR1_ENST00000590996.1_Silent_p.T454T|NBR1_ENST00000589872.1_Silent_p.T454T|NBR1_ENST00000542611.1_Silent_p.T433T|NBR1_ENST00000389312.4_Silent_p.T454T	p.T454T	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	12	1821	+		Breast(137;0.00086)	454					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	c.1362G>A	CCDS45694.1																																																																																				0.532	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		12	17	0	0	0	1	0	12	17				
NRIP2	83714	broad.mit.edu	37	12	2936801	2936801	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2936801A>T	ENST00000337508.4	-	5	783	c.743T>A	c.(742-744)cTt>cAt	p.L248H	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	248					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTTGAGAGAAAGCAGAGTCTG	0.527																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(742-744)cTt>cAt		nuclear receptor interacting protein 2							195.0	198.0	197.0					12																	2936801		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2936801A>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.743T>A	12.37:g.2936801A>T	ENSP00000337501:p.Leu248His					ITFG2_ENST00000542548.1_Intron	p.L248H	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	783	-			248					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.743T>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338422	0.60963	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	T	0.41758	0.99	4.61	3.37	0.38596	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.112377	0.36167	N	0.002745	T	0.55465	0.1922	M	0.65975	2.015	0.38931	D	0.957953	D	0.89917	1.0	D	0.72982	0.979	T	0.56038	-0.8045	10	0.33940	T	0.23	-11.0659	7.8256	0.29313	0.8147:0.0:0.0:0.1853	.	248	Q9BQI9	NRIP2_HUMAN	H	248;237	ENSP00000337501:L248H	ENSP00000337501:L248H	L	-	2	0	NRIP2	2807062	0.995000	0.38212	0.974000	0.42286	0.983000	0.72400	3.468000	0.53086	1.699000	0.51192	0.402000	0.26972	CTT		0.527	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		14	125	0	0	0	1	0	14	125				
FAM71B	153745	broad.mit.edu	37	5	156589546	156589546	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156589546G>A	ENST00000302938.4	-	2	1825	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	577						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACCCTGGGCTTTCTCCAC	0.483																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1729-1731)gCc>gTc		family with sequence similarity 71, member B							277.0	273.0	275.0					5																	156589546		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589546G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1730C>T	5.37:g.156589546G>A	ENSP00000305596:p.Ala577Val						p.A577V	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1825	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	577					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1730C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121047	0.37436	.	.	ENSG00000170613	ENST00000302938	T	0.18174	2.23	3.47	1.54	0.23209	.	1.188320	0.06271	N	0.695580	T	0.17534	0.0421	M	0.68593	2.085	0.09310	N	1	P	0.45126	0.851	B	0.35859	0.212	T	0.30179	-0.9987	10	0.72032	D	0.01	-0.8578	5.4728	0.16680	0.0:0.2058:0.5361:0.2581	.	577	Q8TC56	FA71B_HUMAN	V	577	ENSP00000305596:A577V	ENSP00000305596:A577V	A	-	2	0	FAM71B	156522124	0.087000	0.21565	0.001000	0.08648	0.352000	0.29268	1.210000	0.32370	0.386000	0.24997	0.655000	0.94253	GCC		0.483	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		64	100	0	0	0	1	0	64	100				
TRIP11	9321	broad.mit.edu	37	14	92470564	92470564	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:92470564C>A	ENST00000267622.4	-	11	4129	c.3756G>T	c.(3754-3756)caG>caT	p.Q1252H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1252					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAACCAAAACCTGTGCTTGAA	0.413			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3754-3756)caG>caT		thyroid hormone receptor interactor 11							76.0	65.0	69.0					14																	92470564		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470564C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3756G>T	14.37:g.92470564C>A	ENSP00000267622:p.Gln1252His						p.Q1252H	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4129	-			1252					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3756G>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.490|9.490	1.100436|1.100436	0.20552|0.20552	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.05258	.|3.47	5.24|5.24	-1.25|-1.25	0.09405|0.09405	.|.	.|0.061162	.|0.64402	.|D	.|0.000003	T|T	0.13114|0.13114	0.0318|0.0318	L|L	0.32530|0.32530	0.975|0.975	0.39134|0.39134	D|D	0.961907|0.961907	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.78314	.|0.943;0.991	T|T	0.00019|0.00019	-1.2365|-1.2365	5|10	.|0.56958	.|D	.|0.05	.|.	13.5502|13.5502	0.61728|0.61728	0.0:0.6469:0.0:0.3531|0.0:0.6469:0.0:0.3531	.|.	.|988;1252	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	C|H	968|1252;988	.|ENSP00000267622:Q1252H	.|ENSP00000267622:Q1252H	G|Q	-|-	1|3	0|2	TRIP11|TRIP11	91540317|91540317	0.999000|0.999000	0.42202|0.42202	0.268000|0.268000	0.24571|0.24571	0.166000|0.166000	0.22503|0.22503	0.717000|0.717000	0.25851|0.25851	-0.548000|-0.548000	0.06199|0.06199	-0.693000|-0.693000	0.03709|0.03709	GGT|CAG		0.413	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			21	22	1	0	1.50039e-11	1	1.61536e-11	21	22				
IGHV3-23	28442	broad.mit.edu	37	14	106725634	106725634	+	RNA	SNP	C	C	T	rs181072648		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106725634C>T	ENST00000390609.2	-	0	99									immunoglobulin heavy variable 3-23																		CAAGAAAAAGCCAGCTCAGCC	0.438																																						ENST00000390609.2																			0																				115.0	137.0	130.0					14																	106725634		1884	4114	5998			0							g.chr14:106725634C>T	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725634C>T														0	99	-									RNA	SNP	ENST00000390609.2	37																																																																																						0.438	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		6	126	0	0	0	1	0	6	126				
MRPL39	54148	broad.mit.edu	37	21	26961154	26961154	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:26961154C>T	ENST00000352957.4	-	9	1003	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	MRPL39_ENST00000307301.7_Missense_Mutation_p.R321Q	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	321						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TACCATTTTCCGAGATCTTTC	0.323																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(961-963)cGg>cAg		mitochondrial ribosomal protein L39							124.0	134.0	130.0					21																	26961154		2203	4298	6501	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26961154C>T	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.962G>A	21.37:g.26961154C>T	ENSP00000284967:p.Arg321Gln					MRPL39_ENST00000352957.4_Missense_Mutation_p.R321Q	p.R321Q	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			9	1003	-			321					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.962G>A	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189335	0.38707	.	.	ENSG00000154719	ENST00000352957;ENST00000307301	T;T	0.46063	0.91;0.88	5.04	5.04	0.67666	.	0.410282	0.27012	N	0.021378	T	0.26195	0.0639	N	0.16130	0.375	0.32566	N	0.530474	B;B	0.28378	0.085;0.209	B;B	0.28553	0.031;0.091	T	0.28490	-1.0042	10	0.38643	T	0.18	-6.4834	11.1412	0.48404	0.0:0.9139:0.0:0.0861	.	321;321	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	Q	321	ENSP00000284967:R321Q;ENSP00000305682:R321Q	ENSP00000305682:R321Q	R	-	2	0	MRPL39	25883025	0.972000	0.33761	1.000000	0.80357	0.999000	0.98932	-0.092000	0.11129	2.779000	0.95612	0.655000	0.94253	CGG		0.323	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		44	22	0	0	0	1	0	44	22				
AKR7L	246181	broad.mit.edu	37	1	19600455	19600455	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19600455G>A	ENST00000429712.1	-	0	233				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGTGTGGCCGCGCTCCAGGA	0.716																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							29.0	31.0	31.0					1																	19600455		690	1591	2281			246181							g.chr1:19600455G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19600455G>A						AKR7L_ENST00000429712.1_RNA								0	113	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.716	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	1	0	0	0	1	0	3	1				
CHD6	84181	broad.mit.edu	37	20	40102132	40102132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40102132G>A	ENST00000373233.3	-	17	2671	c.2494C>T	c.(2494-2496)Cga>Tga	p.R832*	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	832	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCCGTACTCGCCCATCAATT	0.537																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2494-2496)Cga>Tga		chromodomain helicase DNA binding protein 6							83.0	75.0	78.0					20																	40102132		2203	4300	6503	SO:0001587	stop_gained	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40102132G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2494C>T	20.37:g.40102132G>A	ENSP00000362330:p.Arg832*					CHD6_ENST00000309279.7_Intron	p.R832*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			17	2671	-		Myeloproliferative disorder(115;0.00425)	832			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.2494C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	41	8.537393	0.98854	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.45	4.46	0.54185	.	0.000000	0.44483	D	0.000445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3315	13.4338	0.61071	0.0:0.0:0.7187:0.2813	.	.	.	.	X	832	.	ENSP00000362330:R832X	R	-	1	2	CHD6	39535546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.154000	0.64894	2.571000	0.86741	0.650000	0.86243	CGA		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			25	25	0	0	0	1	0	25	25				
NUP98	4928	broad.mit.edu	37	11	3707219	3707219	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3707219G>A	ENST00000324932.7	-	29	5080	c.4660C>T	c.(4660-4662)Cac>Tac	p.H1554Y	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1571					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTGTCAATGTGCAGGAGGACA	0.532			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4660-4662)Cac>Tac		nucleoporin 98kDa							67.0	64.0	65.0					11																	3707219		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3707219G>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4660C>T	11.37:g.3707219G>A	ENSP00000316032:p.His1554Tyr					NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	p.H1554Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	29	5080	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1571					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4660C>T	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184375|3.184375	0.57800|0.57800	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85952|0.85952	0.5817|0.5817	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.81914	.|0.995;0.909	D|D	0.87491|0.87491	0.2427|0.2427	5|9	.|0.54805	.|T	.|0.06	-12.14|-12.14	18.992|18.992	0.92796|0.92796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1554;1468	.|P52948-5;P52948-6	.|.;.	V|Y	506|1554	.|.	.|ENSP00000316032:H1554Y	A|H	-|-	2|1	0|0	NUP98|NUP98	3663795|3663795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.357000|0.357000	0.29423|0.29423	7.564000|7.564000	0.82326|0.82326	2.805000|2.805000	0.96524|0.96524	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.532	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		31	47	0	0	0	1	0	31	47				
TNFRSF21	27242	broad.mit.edu	37	6	47253964	47253964	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47253964C>A	ENST00000296861.2	-	2	857	c.464G>T	c.(463-465)gGt>gTt	p.G155V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	155					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTCCGCACACCCCAACCCAC	0.552																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(463-465)gGt>gTt		tumor necrosis factor receptor superfamily, member 21							256.0	198.0	218.0					6																	47253964		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253964C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.464G>T	6.37:g.47253964C>A	ENSP00000296861:p.Gly155Val						p.G155V	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		2	857	-			155					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.464G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245052	0.79912	.	.	ENSG00000146072	ENST00000296861	T	0.72394	-0.65	5.68	4.82	0.62117	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.044680	0.85682	D	0.000000	T	0.77552	0.4147	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81538	-0.0887	10	0.87932	D	0	.	15.041	0.71791	0.0:0.9315:0.0:0.0685	.	155	O75509	TNR21_HUMAN	V	155	ENSP00000296861:G155V	ENSP00000296861:G155V	G	-	2	0	TNFRSF21	47361923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.221000	0.78016	1.555000	0.49500	0.591000	0.81541	GGT		0.552	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		30	47	1	0	2.61193e-14	1	2.84738e-14	30	47				
SUPT16H	11198	broad.mit.edu	37	14	21829364	21829364	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21829364C>T	ENST00000216297.2	-	16	2140	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	601					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATTTGATGCTCGGTATGTACT	0.368																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1801-1803)cGa>cAa		suppressor of Ty 16 homolog (S. cerevisiae)							101.0	101.0	101.0					14																	21829364		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829364C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1802G>A	14.37:g.21829364C>T	ENSP00000216297:p.Arg601Gln						p.R601Q	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	16	2140	-	all_cancers(95;0.00115)		601					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1802G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339970	0.95783	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.52	5.52	0.82312	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	D	0.87297	0.6142	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90565	0.4518	9	0.87932	D	0	-4.7938	18.2076	0.89859	0.0:1.0:0.0:0.0	.	601	Q9Y5B9	SP16H_HUMAN	Q	601	.	ENSP00000216297:R601Q	R	-	2	0	SUPT16H	20899204	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.907000	0.75724	2.596000	0.87737	0.585000	0.79938	CGA		0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			35	67	0	0	0	1	0	35	67				
ADCK2	90956	broad.mit.edu	37	7	140373595	140373595	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:140373595G>A	ENST00000072869.4	+	1	643	c.465G>A	c.(463-465)cgG>cgA	p.R155R	ADCK2_ENST00000476491.1_Silent_p.R155R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	155						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCAGCACCCGGCGCGATCTGT	0.617																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(463-465)cgG>cgA		aarF domain containing kinase 2							51.0	58.0	56.0					7																	140373595		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373595G>A	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.465G>A	7.37:g.140373595G>A						ADCK2_ENST00000476491.1_Silent_p.R155R	p.R155R	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	643	+	Melanoma(164;0.00956)		155					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.465G>A	CCDS5861.1																																																																																				0.617	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		21	42	0	0	0	1	0	21	42				
SEC24B	10427	broad.mit.edu	37	4	110394176	110394176	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110394176C>A	ENST00000265175.5	+	3	949	c.894C>A	c.(892-894)tcC>tcA	p.S298S	SEC24B_ENST00000399100.2_Silent_p.S298S|SEC24B_ENST00000504968.2_Silent_p.S329S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	298					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATTCTTTATCCTGTCCTGTTA	0.363																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(892-894)tcC>tcA		SEC24 family member B							120.0	107.0	111.0					4																	110394176		1839	4098	5937	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110394176C>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.894C>A	4.37:g.110394176C>A						SEC24B_ENST00000399100.2_Silent_p.S298S|SEC24B_ENST00000504968.2_Silent_p.S329S	p.S298S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	3	949	+		Hepatocellular(203;0.217)	298					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.894C>A	CCDS47124.1																																																																																				0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			22	31	1	0	7.92952e-12	1	8.55149e-12	22	31				
EFCAB7	84455	broad.mit.edu	37	1	63999837	63999837	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63999837G>A	ENST00000371088.4	+	6	1000	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	252							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTTACCATGGGGGCTAATGG	0.353																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(754-756)Ggg>Agg		EF-hand calcium binding domain 7							90.0	88.0	89.0					1																	63999837		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999837G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.754G>A	1.37:g.63999837G>A	ENSP00000360129:p.Gly252Arg						p.G252R	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	1000	+			252					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.754G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230417	0.05983	.	.	ENSG00000203965	ENST00000371088	T	0.60299	0.2	5.65	-1.31	0.09230	.	0.890633	0.10034	N	0.724320	T	0.21550	0.0519	L	0.33485	1.01	0.52099	D	0.999941	B	0.29805	0.257	B	0.27500	0.08	T	0.31943	-0.9925	10	0.56958	D	0.05	-1.4926	2.6118	0.04893	0.3841:0.1107:0.3925:0.1126	.	252	A8K855	EFCB7_HUMAN	R	252	ENSP00000360129:G252R	ENSP00000360129:G252R	G	+	1	0	EFCAB7	63772425	0.570000	0.26651	0.186000	0.23195	0.122000	0.20287	0.275000	0.18698	0.021000	0.15133	-0.140000	0.14226	GGG		0.353	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		21	81	0	0	0	1	0	21	81				
LAMA3	3909	broad.mit.edu	37	18	21501508	21501508	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:21501508C>T	ENST00000313654.9	+	62	8377	c.8136C>T	c.(8134-8136)agC>agT	p.S2712S	LAMA3_ENST00000399516.3_Silent_p.S2656S|LAMA3_ENST00000269217.6_Silent_p.S1103S|LAMA3_ENST00000587184.1_Silent_p.S1047S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2712	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTGATTTCAGCACATATTATC	0.333																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8134-8136)agC>agT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						125.0	129.0	128.0					18																	21501508		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501508C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8136C>T	18.37:g.21501508C>T						LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.S1047S|LAMA3_ENST00000269217.6_Silent_p.S1103S|LAMA3_ENST00000399516.3_Silent_p.S2656S	p.S2712S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			62	8377	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2712			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8136C>T	CCDS42419.1																																																																																				0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		22	54	0	0	0	1	0	22	54				
ADAMTS20	80070	broad.mit.edu	37	12	43944804	43944804	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:43944804C>T	ENST00000389420.3	-	2	360	c.361G>A	c.(361-363)Gca>Aca	p.A121T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A121T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	121					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAGGGCCCTGCGTCGCTCTCC	0.657																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(361-363)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 20							23.0	26.0	25.0					12																	43944804		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944804C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.361G>A	12.37:g.43944804C>T	ENSP00000374071:p.Ala121Thr					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A121T	p.A121T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	360	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	121					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.361G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	1.220	-0.627288	0.03610	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06068	3.35;3.35	3.5	-3.64	0.04515	Peptidase M12B, propeptide (1);	1.274900	0.05834	N	0.618111	T	0.02610	0.0079	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.18561	0.022	T	0.44329	-0.9335	10	0.13108	T	0.6	.	0.4397	0.00484	0.2111:0.1936:0.2624:0.3328	.	121	P59510	ATS20_HUMAN	T	121	ENSP00000374071:A121T;ENSP00000448341:A121T	ENSP00000374068:A121T	A	-	1	0	ADAMTS20	42231071	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.433000	0.06948	-0.863000	0.04084	0.591000	0.81541	GCA		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	5	0	0	0	1	0	4	5				
ENDOV	284131	broad.mit.edu	37	17	78409945	78409945	+	3'UTR	SNP	C	C	T	rs549419552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78409945C>T	ENST00000518137.1	+	0	879				ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518907.1_Missense_Mutation_p.R49C|ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000520284.1_Missense_Mutation_p.R49C	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V						DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ctttgttgaacgtggtggtga	0.537								Direct reversal of damage					c|||	1	0.000199681	0.0	0.0	5008	,	,		22404	0.0		0.0	False		,,,				2504	0.001					ENST00000520284.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(145-147)Cgt>Tgt	Direct reversal of damage	endonuclease V							109.0	88.0	95.0					17																	78409945		1568	3582	5150	SO:0001624	3_prime_UTR_variant	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78409945C>T		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.*2C>T	17.37:g.78409945C>T						ENDOV_ENST00000518907.1_Missense_Mutation_p.R49C|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR	p.R49C			Q8N8Q3	ENDOV_HUMAN			6	563	+			0					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.145C>T	CCDS54172.1																																																																																				0.537	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		16	25	0	0	0	1	0	16	25				
UNC79	57578	broad.mit.edu	37	14	94088324	94088324	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94088324G>T	ENST00000393151.2	+	30	4745	c.4745G>T	c.(4744-4746)aGg>aTg	p.R1582M	UNC79_ENST00000553484.1_Missense_Mutation_p.R1604M|UNC79_ENST00000555664.1_Missense_Mutation_p.R1582M|UNC79_ENST00000256339.4_Missense_Mutation_p.R1405M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1582					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAGAGGTTAGGTTAAACTGT	0.473																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(4810-4812)aGg>aTg		unc-79 homolog (C. elegans)							73.0	77.0	75.0					14																	94088324		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088324G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4745G>T	14.37:g.94088324G>T	ENSP00000376858:p.Arg1582Met					UNC79_ENST00000393151.2_Missense_Mutation_p.R1582M|UNC79_ENST00000555664.1_Missense_Mutation_p.R1582M|UNC79_ENST00000256339.4_Missense_Mutation_p.R1405M	p.R1604M			Q9P2D8	UNC79_HUMAN			31	4965	+			1582					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4811G>T		.	.	.	.	.	.	.	.	.	.	G	13.97	2.394926	0.42512	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32515	1.51;1.45;1.52;1.51	5.98	5.98	0.97165	.	0.046390	0.85682	D	0.000000	T	0.48943	0.1528	L	0.32530	0.975	0.49213	D	0.999769	D	0.89917	1.0	D	0.85130	0.997	T	0.42899	-0.9424	10	0.72032	D	0.01	-21.9133	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1604	C9JQL1	.	M	1405;1582;1604;1582;1604	ENSP00000256339:R1405M;ENSP00000450868:R1582M;ENSP00000451360:R1604M;ENSP00000376858:R1582M	ENSP00000256339:R1405M	R	+	2	0	KIAA1409	93158077	1.000000	0.71417	0.773000	0.31616	0.037000	0.13140	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	AGG		0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		24	55	1	0	3.01185e-09	1	3.19065e-09	24	55				
RSPH3	83861	broad.mit.edu	37	6	159403613	159403613	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159403613C>T	ENST00000252655.1	-	5	1215	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RSPH3_ENST00000297262.3_Silent_p.L246L|RSPH3_ENST00000367069.2_Silent_p.L200L|RSPH3_ENST00000449822.1_Silent_p.L104L	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	342										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GACTGGCCCGCAGGTTAGCCA	0.448																																						ENST00000367069.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23						c.(598-600)ctG>ctA		radial spoke 3 homolog (Chlamydomonas)							79.0	69.0	73.0					6																	159403613		2203	4300	6503	SO:0001819	synonymous_variant	83861							g.chr6:159403613C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1026G>A	6.37:g.159403613C>T						RSPH3_ENST00000449822.1_Silent_p.L104L|RSPH3_ENST00000297262.3_Silent_p.L246L|RSPH3_ENST00000252655.1_Silent_p.L342L	p.L200L			Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	5	1236	-		Breast(66;0.00519)|Ovarian(120;0.123)	342					Q96LQ5|Q96LX2|Q9BX75	Silent	SNP	ENST00000252655.1	37	c.600G>A	CCDS5260.1																																																																																				0.448	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		20	35	0	0	0	1	0	20	35				
PPP1R13B	23368	broad.mit.edu	37	14	104209063	104209063	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104209063C>A	ENST00000202556.9	-	10	1530	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_De_novo_Start_OutOfFrame	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	416					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGACAGACCCCTCCACGCTCG	0.557																																						ENST00000423488.2																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33								protein phosphatase 1, regulatory subunit 13B							57.0	61.0	59.0					14																	104209063		1982	4146	6128	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104209063C>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1248G>T	14.37:g.104209063C>A	ENSP00000202556:p.Glu416Asp					PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000202556.9_Missense_Mutation_p.E416D				Q96KQ4	ASPP1_HUMAN			0	213	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)						B2RMX5|O94870	Translation_Start_Site	SNP	ENST00000202556.9	37		CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	2.956	-0.215708	0.06101	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.48522	0.81	5.93	3.89	0.44902	.	0.344894	0.36482	N	0.002567	T	0.22742	0.0549	N	0.10809	0.05	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12066	-1.0562	10	0.02654	T	1	.	10.0948	0.42469	0.2575:0.642:0.1005:0.0	.	416	Q96KQ4	ASPP1_HUMAN	D	416;283	ENSP00000202556:E416D	ENSP00000202556:E416D	E	-	3	2	PPP1R13B	103278816	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	1.189000	0.32114	1.470000	0.48102	0.561000	0.74099	GAG		0.557	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		34	48	1	0	5.43694e-19	1	6.01085e-19	34	48				
PHLPP1	23239	broad.mit.edu	37	18	60646384	60646384	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60646384G>A	ENST00000262719.5	+	17	5108	c.4874G>A	c.(4873-4875)gGc>gAc	p.G1625D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G1113D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1625					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AGGGCCAATGGCTCTGTTGCG	0.607																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3337-3339)gGc>gAc		PH domain and leucine rich repeat protein phosphatase 1							30.0	33.0	32.0					18																	60646384		1959	4151	6110	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646384G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4874G>A	18.37:g.60646384G>A	ENSP00000262719:p.Gly1625Asp					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1625D	p.G1113D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	5119	+			1625					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3338G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433602	0.83776	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.66099	0.35;-0.19	4.08	4.08	0.47627	.	.	.	.	.	T	0.76652	0.4017	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80487	-0.1361	9	0.87932	D	0	-18.9999	16.4745	0.84128	0.0:0.0:1.0:0.0	.	1625	O60346	PHLP1_HUMAN	D	1113;1625	ENSP00000383170:G1113D;ENSP00000262719:G1625D	ENSP00000262719:G1625D	G	+	2	0	PHLPP1	58797364	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.327000	0.96396	2.115000	0.64714	0.561000	0.74099	GGC		0.607	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		8	10	0	0	0	1	0	8	10				
ISLR2	57611	broad.mit.edu	37	15	74427292	74427292	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74427292G>A	ENST00000361742.3	+	4	2966	c.2197G>A	c.(2197-2199)Gcc>Acc	p.A733T	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A733T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A733T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A733T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A733T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A733T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A733T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	733					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGTCAACATCGCCCAGGAGAT	0.657											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(2197-2199)Gcc>Acc		immunoglobulin superfamily containing leucine-rich repeat 2							42.0	47.0	45.0					15																	74427292		2197	4296	6493	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74427292G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.2197G>A	15.37:g.74427292G>A	ENSP00000355402:p.Ala733Thr		OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_ENST00000565540.1_Missense_Mutation_p.A733T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.A733T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A733T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A733T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A733T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A733T	p.A733T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2966	+			733					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.2197G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.393976	0.62066	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.69	3.77	0.43336	.	0.260709	0.32459	U	0.006071	T	0.32704	0.0838	L	0.27053	0.805	0.35744	D	0.818875	P	0.35401	0.499	B	0.26693	0.072	T	0.43686	-0.9376	10	0.72032	D	0.01	.	6.7486	0.23475	0.0939:0.0:0.7304:0.1757	.	733	Q6UXK2	ISLR2_HUMAN	T	733;733;733;733;322;733	ENSP00000403244:A733T;ENSP00000355402:A733T;ENSP00000411443:A733T;ENSP00000411834:A733T;ENSP00000408872:A733T	ENSP00000355402:A733T	A	+	1	0	ISLR2	72214345	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	3.513000	0.53414	0.951000	0.37770	0.313000	0.20887	GCC		0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		11	16	0	0	0	1	0	11	16				
ATAD3C	219293	broad.mit.edu	37	1	1389861	1389861	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1389861C>T	ENST00000378785.2	+	4	1354	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	120							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		GTGCTTGAGGCGCTGCGGCAC	0.662																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(358-360)gCg>gTg		ATPase family, AAA domain containing 3C							23.0	37.0	32.0					1																	1389861		692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1389861C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.359C>T	1.37:g.1389861C>T	ENSP00000368062:p.Ala120Val						p.A120V	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_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)	4	1354	+	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)	120					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.359C>T	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	9.917	1.211003	0.22289	.	.	ENSG00000215915	ENST00000378785	D	0.94232	-3.38	2.51	2.51	0.30379	.	0.175564	0.51477	D	0.000098	D	0.89399	0.6704	M	0.64630	1.985	0.58432	D	0.999996	B	0.28801	0.223	B	0.17098	0.017	D	0.85660	0.1288	10	0.29301	T	0.29	.	10.1382	0.42719	0.0:1.0:0.0:0.0	.	120	Q5T2N8	ATD3C_HUMAN	V	120	ENSP00000368062:A120V	ENSP00000368062:A120V	A	+	2	0	ATAD3C	1379724	1.000000	0.71417	0.802000	0.32245	0.066000	0.16364	4.897000	0.63231	1.224000	0.43551	0.195000	0.17529	GCG		0.662	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		4	8	0	0	0	1	0	4	8				
PHRF1	57661	broad.mit.edu	37	11	581559	581559	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:581559C>T	ENST00000264555.5	+	2	175	c.47C>T	c.(46-48)cCg>cTg	p.P16L	PHRF1_ENST00000413872.2_Missense_Mutation_p.P16L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P16L|PHRF1_ENST00000533464.1_Missense_Mutation_p.P16L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	16					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCCCAGGGCCGGATGGACAC	0.632																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(46-48)cCg>cTg		PHD and ring finger domains 1							31.0	36.0	34.0					11																	581559		2001	4151	6152	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:581559C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.47C>T	11.37:g.581559C>T	ENSP00000264555:p.Pro16Leu					PHRF1_ENST00000413872.2_Missense_Mutation_p.P16L|PHRF1_ENST00000533464.1_Missense_Mutation_p.P16L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P16L	p.P16L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			2	175	+			16					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.47C>T		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999671	0.54147	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.79454	-1.23;-1.21;-1.23;-1.27	4.56	2.65	0.31530	.	0.216999	0.23378	N	0.048822	T	0.66327	0.2778	L	0.27053	0.805	0.18873	N	0.999984	D;D;D;D	0.56287	0.957;0.975;0.975;0.957	B;P;P;B	0.47827	0.355;0.558;0.558;0.355	T	0.56619	-0.7949	10	0.34782	T	0.22	-14.6232	6.3816	0.21538	0.0:0.7154:0.185:0.0995	.	16;16;16;16	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	16	ENSP00000264555:P16L;ENSP00000388589:P16L;ENSP00000410626:P16L;ENSP00000431870:P16L	ENSP00000264555:P16L	P	+	2	0	PHRF1	571559	0.002000	0.14202	0.014000	0.15608	0.058000	0.15608	0.139000	0.16036	0.651000	0.30788	0.655000	0.94253	CCG		0.632	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		10	19	0	0	0	1	0	10	19				
EHD4	30844	broad.mit.edu	37	15	42193242	42193242	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42193242C>T	ENST00000220325.4	-	6	1310	c.1227G>A	c.(1225-1227)acG>acA	p.T409T	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	409					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCACCAGCTGCGTGGGCGTGC	0.657																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1225-1227)acG>acA		EH-domain containing 4							67.0	59.0	62.0					15																	42193242		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193242C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1227G>A	15.37:g.42193242C>T							p.T409T	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1310	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	409					Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.1227G>A	CCDS10081.1																																																																																				0.657	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		18	24	0	0	0	1	0	18	24				
PPP2R2A	5520	broad.mit.edu	37	8	26227725	26227725	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26227725A>G	ENST00000380737.3	+	10	1469	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	PPP2R2A_ENST00000315985.7_Silent_p.E390E	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	380					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAACCCTAGAAGCATCGCGGG	0.423																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(1138-1140)gaA>gaG		protein phosphatase 2, regulatory subunit B, alpha							82.0	77.0	79.0					8																	26227725		2203	4300	6503	SO:0001819	synonymous_variant	5520							g.chr8:26227725A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1140A>G	8.37:g.26227725A>G						PPP2R2A_ENST00000315985.7_Silent_p.E390E	p.E380E	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1469	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	c.1140A>G	CCDS34867.1																																																																																				0.423	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	46	0	0	0	1	0	4	46				
CYTL1	54360	broad.mit.edu	37	4	5018575	5018575	+	Silent	SNP	C	C	T	rs141557297		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5018575C>T	ENST00000307746.4	-	3	341	c.315G>A	c.(313-315)tcG>tcA	p.S105S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	105					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TCCTGCAGAACGAGTTCATGA	0.493																																					Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(313-315)tcG>tcA		cytokine-like 1		C		0,4406		0,0,2203	130.0	128.0	129.0		315	-9.9	0.8	4	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYTL1	NM_018659.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		105/137	5018575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5018575C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.315G>A	4.37:g.5018575C>T							p.S105S	NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	3	341	-			105						Silent	SNP	ENST00000307746.4	37	c.315G>A	CCDS3379.1																																																																																				0.493	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		28	65	0	0	0	1	0	28	65				
ALPK3	57538	broad.mit.edu	37	15	85384034	85384034	+	Silent	SNP	C	C	T	rs142698933		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85384034C>T	ENST00000258888.5	+	5	2297	c.2130C>T	c.(2128-2130)tgC>tgT	p.C710C		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	710					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCCAGAATGCGGGGCCCAGA	0.612																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2128-2130)tgC>tgT		alpha-kinase 3		C		0,4406	2.1+/-5.4	0,0,2203	40.0	42.0	41.0		2130	-10.3	0.0	15	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ALPK3	NM_020778.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		710/1908	85384034	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384034C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2130C>T	15.37:g.85384034C>T							p.C710C	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2297	+			710					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2130C>T	CCDS10333.1																																																																																				0.612	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		12	19	0	0	0	1	0	12	19				
TLE1	7088	broad.mit.edu	37	9	84226784	84226784	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84226784G>A	ENST00000376499.3	-	13	2218	c.1154C>T	c.(1153-1155)aCc>aTc	p.T385I	TLE1_ENST00000376472.1_Missense_Mutation_p.T60I|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_Missense_Mutation_p.T60I	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	385	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTGGGCTGGTCAGCTCGCC	0.672																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1153-1155)aCc>aTc		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							47.0	51.0	50.0					9																	84226784		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226784G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1154C>T	9.37:g.84226784G>A	ENSP00000365682:p.Thr385Ile					TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_Missense_Mutation_p.T60I|TLE1_ENST00000376472.1_Missense_Mutation_p.T60I	p.T385I	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2218	-			385			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1154C>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101868	0.94245	.	.	ENSG00000196781	ENST00000376499;ENST00000376484;ENST00000376472	T;T;T	0.51817	0.96;0.69;0.69	5.84	4.93	0.64822	.	0.158410	0.56097	D	0.000022	T	0.62780	0.2456	L	0.55481	1.735	0.49299	D	0.999779	P;B;P;B	0.50156	0.932;0.104;0.616;0.402	P;B;B;B	0.61397	0.888;0.187;0.258;0.365	T	0.66488	-0.5911	10	0.87932	D	0	-21.6339	16.1851	0.81946	0.0:0.0:0.8657:0.1343	.	311;370;411;385	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	I	385;60;60	ENSP00000365682:T385I;ENSP00000365667:T60I;ENSP00000365655:T60I	ENSP00000365655:T60I	T	-	2	0	TLE1	83416604	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.869000	0.99810	1.443000	0.47586	0.655000	0.94253	ACC		0.672	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		21	16	0	0	0	1	0	21	16				
C10orf82	143379	broad.mit.edu	37	10	118423536	118423536	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118423536G>A	ENST00000588184.1	-	6	625	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	C10orf82_ENST00000369210.3_3'UTR			Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	196										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TCTCTCAGGGGCCTTCCAAGG	0.567																																						ENST00000588184.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(586-588)Ccc>Tcc		chromosome 10 open reading frame 82																																				SO:0001583	missense	143379							g.chr10:118423536G>A	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000588184.1:c.586C>T	10.37:g.118423536G>A	ENSP00000465712:p.Pro196Ser					C10orf82_ENST00000369210.3_3'UTR	p.P196S			Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	6	625	-			196					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000588184.1	37	c.586C>T		.	.	.	.	.	.	.	.	.	.	G	8.185	0.794629	0.16327	.	.	ENSG00000165863	ENST00000388884	.	.	.	3.77	2.87	0.33458	.	0.422780	0.17626	N	0.167555	T	0.41396	0.1157	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25950	-1.0117	6	0.48119	T	0.1	-15.1414	9.1952	0.37224	0.0:0.2469:0.7531:0.0	.	.	.	.	S	196	.	ENSP00000373536:P196S	P	-	1	0	C10orf82	118413526	0.003000	0.15002	0.009000	0.14445	0.175000	0.22909	0.269000	0.18589	1.175000	0.42826	0.655000	0.94253	CCC		0.567	C10orf82-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000460064.1	NM_144661		4	5	0	0	0	1	0	4	5				
PLK2	10769	broad.mit.edu	37	5	57753106	57753106	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:57753106G>A	ENST00000274289.3	-	7	1210	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCAGGAGCCAGCAATGAGGAC	0.428																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(910-912)Ctg>Ttg		polo-like kinase 2							85.0	81.0	83.0					5																	57753106		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753106G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.910C>T	5.37:g.57753106G>A						PLK2_ENST00000502671.1_5'UTR	p.L304L	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	7	1210	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	304			Protein kinase.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.910C>T	CCDS3974.1																																																																																				0.428	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		21	16	0	0	0	1	0	21	16				
DPP9	91039	broad.mit.edu	37	19	4704219	4704219	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4704219C>T	ENST00000598800.1	-	7	942	c.437G>A	c.(436-438)aGc>aAc	p.S146N	DPP9_ENST00000597849.1_Missense_Mutation_p.S175N|DPP9_ENST00000594671.1_Missense_Mutation_p.S146N|DPP9_ENST00000262960.9_Missense_Mutation_p.S175N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	146						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCACTCTCGCTGTGGAAGTC	0.652																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(523-525)aGc>aAc		dipeptidyl-peptidase 9							56.0	68.0	64.0					19																	4704219		2071	4196	6267	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704219C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.437G>A	19.37:g.4704219C>T	ENSP00000469603:p.Ser146Asn					DPP9_ENST00000597849.1_Missense_Mutation_p.S175N|DPP9_ENST00000594671.1_Missense_Mutation_p.S146N|DPP9_ENST00000598800.1_Missense_Mutation_p.S146N	p.S175N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	801	-		Hepatocellular(1079;0.137)	146					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.524G>A		.	.	.	.	.	.	.	.	.	.	C	6.931	0.541423	0.13250	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30714	1.52	4.5	3.43	0.39272	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.151980	0.64402	D	0.000018	T	0.32526	0.0832	L	0.46157	1.445	0.35797	D	0.822819	B;B	0.31705	0.336;0.166	B;B	0.39027	0.288;0.139	T	0.44329	-0.9335	10	0.44086	T	0.13	-31.6673	13.4805	0.61332	0.0:0.8419:0.1581:0.0	.	146;175	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	N	254;116;175	ENSP00000262960:S175N	ENSP00000262960:S175N	S	-	2	0	DPP9	4655219	0.724000	0.28038	0.900000	0.35374	0.045000	0.14185	1.895000	0.39778	1.065000	0.40693	0.561000	0.74099	AGC		0.652	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			28	36	0	0	0	1	0	28	36				
MSH6	2956	broad.mit.edu	37	2	48026079	48026079	+	Silent	SNP	G	G	A	rs375210430		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026079G>A	ENST00000234420.5	+	4	1109	c.957G>A	c.(955-957)acG>acA	p.T319T	MSH6_ENST00000538136.1_Silent_p.T17T|MSH6_ENST00000540021.1_Silent_p.T189T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	319					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAAGGAAACGCCCTCAGCCA	0.463			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(955-957)acG>acA	Mismatch excision repair (MMR)	mutS homolog 6		G		0,4406		0,0,2203	148.0	157.0	154.0		957	0.5	0.1	2		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MSH6	NM_000179.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/1361	48026079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026079G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.957G>A	2.37:g.48026079G>A						MSH6_ENST00000538136.1_Silent_p.T17T|MSH6_ENST00000540021.1_Silent_p.T189T|FBXO11_ENST00000405808.1_Intron	p.T319T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1109	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	319					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.957G>A	CCDS1836.1																																																																																				0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		68	96	0	0	0	1	0	68	96				
UNC13C	440279	broad.mit.edu	37	15	54542540	54542540	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54542540G>T	ENST00000260323.11	+	7	3346	c.3346G>T	c.(3346-3348)Ggg>Tgg	p.G1116W	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1116W|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1114W	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1116					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAGTGTGAAGGGCTCCTGTG	0.517																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3346-3348)Ggg>Tgg		unc-13 homolog C (C. elegans)							102.0	100.0	101.0					15																	54542540		2132	4275	6407	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542540G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3346G>T	15.37:g.54542540G>T	ENSP00000260323:p.Gly1116Trp					UNC13C_ENST00000260323.11_Missense_Mutation_p.G1116W|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1114W	p.G1116W			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3346	+			1116					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3346G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535530	0.85812	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.92911	-3.13;-3.13;-3.13	5.42	5.42	0.78866	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.111748	0.64402	D	0.000011	D	0.96806	0.8957	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.97470	1.0040	10	0.87932	D	0	.	18.2085	0.89863	0.0:0.0:1.0:0.0	.	1116	Q8NB66	UN13C_HUMAN	W	1116;1116;1114	ENSP00000260323:G1116W;ENSP00000438156:G1116W;ENSP00000442569:G1114W	ENSP00000260323:G1116W	G	+	1	0	UNC13C	52329832	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.856000	0.99531	2.538000	0.85594	0.650000	0.86243	GGG		0.517	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		13	25	1	0	0.00010058	1	0.000103117	13	25				
ZNF615	284370	broad.mit.edu	37	19	52497638	52497638	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52497638G>A	ENST00000602063.1	-	6	1040	c.691C>T	c.(691-693)Cct>Tct	p.P231S	ZNF615_ENST00000391795.3_Missense_Mutation_p.P236S|ZNF615_ENST00000598071.1_Missense_Mutation_p.P242S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P242S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P231S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATACATGAGGTTTTTCTCCA	0.408																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(691-693)Cct>Tct		zinc finger protein 615							167.0	160.0	162.0					19																	52497638		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497638G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.691C>T	19.37:g.52497638G>A	ENSP00000473089:p.Pro231Ser					ZNF615_ENST00000598071.1_Missense_Mutation_p.P242S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P242S|ZNF615_ENST00000391795.3_Missense_Mutation_p.P236S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P231S	p.P231S			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1040	-		all_neural(266;0.117)	231					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.691C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	9.691	1.151810	0.21371	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.16743	2.32;2.32	3.23	2.19	0.27852	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	L	0.56769	1.78	0.32886	D	0.511199	B;B;B;B	0.13145	0.007;0.005;0.005;0.007	B;B;B;B	0.14578	0.011;0.006;0.006;0.007	T	0.09751	-1.0660	9	0.45353	T	0.12	.	9.743	0.40429	0.108:0.0:0.892:0.0	.	236;238;242;231	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	231;241;236;241	ENSP00000365906:P231S;ENSP00000375672:P236S	ENSP00000347019:P241S	P	-	1	0	ZNF615	57189450	0.644000	0.27277	0.788000	0.31933	0.763000	0.43281	1.802000	0.38853	0.687000	0.31509	-0.263000	0.10527	CCT		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		56	85	0	0	0	1	0	56	85				
MAP1LC3C	440738	broad.mit.edu	37	1	242159571	242159571	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:242159571C>A	ENST00000357246.3	-	4	402	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	113					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTACACGAAGCCATCCTCATC	0.557																																						ENST00000357246.3																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13						c.(337-339)gGc>gTc		microtubule-associated protein 1 light chain 3 gamma							212.0	183.0	193.0					1																	242159571		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159571C>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.338G>T	1.37:g.242159571C>A	ENSP00000349785:p.Gly113Val						p.G113V	NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	402	-			113					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.338G>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004330	0.74932	.	.	ENSG00000197769	ENST00000357246	T	0.46819	0.86	4.18	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79480	-0.1786	10	0.87932	D	0	.	11.3885	0.49800	0.0:0.9105:0.0:0.0895	.	113	Q9BXW4	MLP3C_HUMAN	V	113	ENSP00000349785:G113V	ENSP00000349785:G113V	G	-	2	0	MAP1LC3C	240226194	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	5.110000	0.64622	0.966000	0.38159	0.643000	0.83706	GGC		0.557	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		31	63	1	0	3.1745e-13	1	3.44526e-13	31	63				
ACE	1636	broad.mit.edu	37	17	61574235	61574235	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61574235G>A	ENST00000290866.4	+	24	3604	c.3580G>A	c.(3580-3582)Gcc>Acc	p.A1194T	ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.A620T|ACE_ENST00000577647.1_Missense_Mutation_p.A620T|ACE_ENST00000421982.2_Missense_Mutation_p.A399T|ACE_ENST00000413513.3_Missense_Mutation_p.A579T|ACE_ENST00000490216.2_Missense_Mutation_p.A620T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1194	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)			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)	CAACATGAGCGCCTCGGCCAT	0.642																																						ENST00000577647.1																			0				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						c.(1858-1860)Gcc>Acc		angiotensin I converting enzyme	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)						34.0	35.0	35.0					17																	61574235		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.chr17:61574235G>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.3580G>A	17.37:g.61574235G>A	ENSP00000290866:p.Ala1194Thr					ACE_ENST00000490216.2_Missense_Mutation_p.A620T|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.A399T|ACE_ENST00000290866.4_Missense_Mutation_p.A1194T|ACE_ENST00000413513.3_Missense_Mutation_p.A579T|ACE_ENST00000290863.6_Missense_Mutation_p.A620T	p.A620T			P12821	ACE_HUMAN			13	1903	+			1194			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1858G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747086	0.30955	.	.	ENSG00000159640	ENST00000290866;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T	0.45668	0.89;0.89;1.21;1.21	5.06	4.08	0.47627	.	0.052933	0.85682	N	0.000000	T	0.59321	0.2185	M	0.70595	2.14	0.58432	D	0.999996	P;D;D;D	0.76494	0.931;0.972;0.991;0.999	P;P;P;P	0.62089	0.511;0.692;0.507;0.898	T	0.59994	-0.7349	10	0.36615	T	0.2	-13.341	14.7347	0.69406	0.0:0.0:0.8539:0.1461	.	399;579;620;1194	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	T	1194;620;579;399	ENSP00000290866:A1194T;ENSP00000290863:A620T;ENSP00000392247:A579T;ENSP00000387760:A399T	ENSP00000290863:A620T	A	+	1	0	ACE	58927967	1.000000	0.71417	0.022000	0.16811	0.144000	0.21451	6.725000	0.74752	1.097000	0.41459	0.479000	0.44913	GCC		0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	38	0	0	0	1	0	5	38				
ZHX2	22882	broad.mit.edu	37	8	123963874	123963874	+	Missense_Mutation	SNP	G	G	A	rs375028357		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:123963874G>A	ENST00000314393.4	+	3	959	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	42					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGCCTGACGTGGCCAAGGA	0.483																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(124-126)Gtg>Atg		zinc fingers and homeoboxes 2		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	76.0	67.0	70.0		124	-3.3	0.0	8		70	0,8600		0,0,4300	no	missense	ZHX2	NM_014943.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	42/838	123963874	1,13005	2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963874G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.124G>A	8.37:g.123963874G>A	ENSP00000314709:p.Val42Met						p.V42M	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	959	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		42						Missense_Mutation	SNP	ENST00000314393.4	37	c.124G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	7.534	0.659230	0.14645	2.27E-4	0.0	ENSG00000178764	ENST00000314393	T	0.18502	2.21	5.52	-3.35	0.04928	.	2.173980	0.02378	N	0.078563	T	0.15262	0.0368	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41161	-0.9524	10	0.51188	T	0.08	0.2628	13.0214	0.58789	0.3548:0.0:0.6452:0.0	.	42	Q9Y6X8	ZHX2_HUMAN	M	42	ENSP00000314709:V42M	ENSP00000314709:V42M	V	+	1	0	ZHX2	124033055	0.000000	0.05858	0.000000	0.03702	0.683000	0.39861	-1.137000	0.03219	-0.495000	0.06659	0.561000	0.74099	GTG		0.483	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		6	8	0	0	0	1	0	6	8				
TNFRSF13B	23495	broad.mit.edu	37	17	16855889	16855889	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16855889C>A	ENST00000261652.2	-	2	82	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G24C|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	24					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GTCCACAGGCCCTGTGGAACT	0.612									IgA Deficiency, Selective																													ENST00000261652.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(70-72)Ggc>Tgc		tumor necrosis factor receptor superfamily, member 13B							49.0	44.0	46.0					17																	16855889		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16855889C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.70G>T	17.37:g.16855889C>A	ENSP00000261652:p.Gly24Cys					TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G24C|TNFRSF13B_ENST00000581616.2_5'UTR	p.G24C	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN			2	82	-			24					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.70G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.975	-0.007550	0.07773	.	.	ENSG00000240505	ENST00000261652	D	0.93859	-3.3	3.02	3.02	0.34903	.	.	.	.	.	D	0.90920	0.7146	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.951	D	0.90717	0.4632	9	0.72032	D	0.01	-14.6161	9.8025	0.40773	0.0:1.0:0.0:0.0	.	24;24	B7Z6V8;O14836	.;TR13B_HUMAN	C	24	ENSP00000261652:G24C	ENSP00000261652:G24C	G	-	1	0	TNFRSF13B	16796614	0.993000	0.37304	0.997000	0.53966	0.141000	0.21300	2.032000	0.41127	2.003000	0.58678	0.460000	0.39030	GGC		0.612	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			8	16	1	0	0.00307968	1	0.00311927	8	16				
TAOK1	57551	broad.mit.edu	37	17	27818816	27818816	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27818816G>A	ENST00000261716.3	+	10	1283	c.764G>A	c.(763-765)cGc>cAc	p.R255H	TAOK1_ENST00000536202.1_Missense_Mutation_p.R255H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATTATTTTCGCAACTTTGTA	0.333																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(763-765)cGc>cAc		TAO kinase 1							114.0	109.0	111.0					17																	27818816		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27818816G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.764G>A	17.37:g.27818816G>A	ENSP00000261716:p.Arg255His					TAOK1_ENST00000536202.1_Missense_Mutation_p.R255H	p.R255H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		10	1283	+			255			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.764G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555611	0.86231	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.90261	-2.64;-2.64	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	L	0.43554	1.36	0.80722	D	1	P;P;D	0.89917	0.662;0.793;1.0	P;P;D	0.83275	0.526;0.521;0.996	D	0.92881	0.6323	10	0.42905	T	0.14	.	19.0727	0.93147	0.0:0.0:1.0:0.0	.	255;81;255	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	H	255	ENSP00000261716:R255H;ENSP00000438819:R255H	ENSP00000261716:R255H	R	+	2	0	TAOK1	24842942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.790000	0.99075	2.590000	0.87494	0.455000	0.32223	CGC		0.333	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		51	111	0	0	0	1	0	51	111				
MAN2B1	4125	broad.mit.edu	37	19	12772078	12772078	+	Missense_Mutation	SNP	G	G	A	rs574049175		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12772078G>A	ENST00000456935.2	-	7	1062	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A341V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	341			Missing (in MANSA). {ECO:0000269|PubMed:22161967}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTGACCTGCGCATTTACCAG	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20854	0.0		0.0	False		,,,				2504	0.0					ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1021-1023)gCg>gTg		mannosidase, alpha, class 2B, member 1							220.0	172.0	188.0					19																	12772078		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12772078G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1022C>T	19.37:g.12772078G>A	ENSP00000395473:p.Ala341Val					MAN2B1_ENST00000221363.4_Missense_Mutation_p.A341V	p.A341V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			7	1062	-			341					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1022C>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032247	0.54790	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.79653	-0.81;-1.29	5.51	0.694	0.18062	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.860335	0.09892	N	0.742231	T	0.70753	0.3260	M	0.81497	2.545	0.09310	N	1	P;P	0.44380	0.8;0.834	B;B	0.27715	0.082;0.067	T	0.61811	-0.6986	10	0.39692	T	0.17	-11.183	1.8366	0.03141	0.158:0.1377:0.4356:0.2686	.	341;341	G5E928;O00754	.;MA2B1_HUMAN	V	341;280;341	ENSP00000395473:A341V;ENSP00000221363:A341V	ENSP00000221363:A341V	A	-	2	0	MAN2B1	12633078	0.027000	0.19231	0.000000	0.03702	0.393000	0.30537	1.668000	0.37481	-0.014000	0.14175	0.561000	0.74099	GCG		0.532	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			25	27	0	0	0	1	0	25	27				
QRICH2	84074	broad.mit.edu	37	17	74286133	74286133	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74286133C>T	ENST00000262765.5	-	5	3419	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1080										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GCTGCTCCTGCAGTTCAGGAG	0.453																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(3238-3240)ctG>ctA		glutamine rich 2							124.0	139.0	134.0					17																	74286133		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74286133C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3240G>A	17.37:g.74286133C>T							p.L1080L	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			5	3419	-			1080					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.3240G>A	CCDS32741.1																																																																																				0.453	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		46	80	0	0	0	1	0	46	80				
ADCY6	112	broad.mit.edu	37	12	49165679	49165679	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49165679G>A	ENST00000307885.4	-	18	3559	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D	ADCY6_ENST00000550422.1_Silent_p.D902D|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Silent_p.D902D|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	955					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGCCGCCACGTCCTTGGGCA	0.567																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2863-2865)gaC>gaT		adenylate cyclase 6							125.0	90.0	102.0					12																	49165679		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49165679G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2865C>T	12.37:g.49165679G>A						ADCY6_ENST00000550422.1_Silent_p.D902D|ADCY6_ENST00000357869.3_Silent_p.D902D	p.D955D	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			18	3559	-			955					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.2865C>T	CCDS8767.1																																																																																				0.567	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		16	26	0	0	0	1	0	16	26				
C17orf53	78995	broad.mit.edu	37	17	42226031	42226031	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42226031C>T	ENST00000319977.4	+	3	1097	c.860C>T	c.(859-861)aCc>aTc	p.T287I	C17orf53_ENST00000245382.6_Missense_Mutation_p.T287I|C17orf53_ENST00000585683.1_Missense_Mutation_p.T287I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	287										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTAGAGGGACCATTCAGAGC	0.532																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(859-861)aCc>aTc		chromosome 17 open reading frame 53							145.0	139.0	141.0					17																	42226031		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226031C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.860C>T	17.37:g.42226031C>T	ENSP00000313500:p.Thr287Ile					C17orf53_ENST00000585683.1_Missense_Mutation_p.T287I|C17orf53_ENST00000245382.6_Missense_Mutation_p.T287I	p.T287I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1097	+		Breast(137;0.0364)|Prostate(33;0.0376)	287					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.860C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810054	0.32053	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.47528	0.85;0.84	4.79	2.65	0.31530	.	0.921495	0.09115	N	0.846598	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P;B;P	0.37276	0.589;0.131;0.589	B;B;B	0.35813	0.211;0.06;0.211	T	0.13899	-1.0492	10	0.21014	T	0.42	0.2991	5.4818	0.16727	0.2565:0.6404:0.0:0.1031	.	287;287;287	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	287	ENSP00000313500:T287I;ENSP00000245382:T287I	ENSP00000245382:T287I	T	+	2	0	C17orf53	39581557	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	0.318000	0.19504	1.252000	0.44001	0.555000	0.69702	ACC		0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		49	61	0	0	0	1	0	49	61				
FBN2	2201	broad.mit.edu	37	5	127641254	127641254	+	Missense_Mutation	SNP	G	G	A	rs142454731		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:127641254G>A	ENST00000508053.1	-	50	6597	c.5623C>T	c.(5623-5625)Cgc>Tgc	p.R1875C	FBN2_ENST00000262464.4_Missense_Mutation_p.R1875C			P35556	FBN2_HUMAN	fibrillin 2	1875	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTCACAGCGGTAACTACCA	0.453																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5623-5625)Cgc>Tgc		fibrillin 2		G	CYS/ARG	0,4406		0,0,2203	96.0	94.0	95.0		5623	4.5	1.0	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1875/2913	127641254	1,13005	2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641254G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5623C>T	5.37:g.127641254G>A	ENSP00000424571:p.Arg1875Cys					FBN2_ENST00000262464.4_Missense_Mutation_p.R1875C	p.R1875C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6597	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1875			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5623C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365374	0.82463	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92545	-3.06;-3.06	5.35	4.47	0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.199017	0.36338	N	0.002644	D	0.96430	0.8835	M	0.90369	3.11	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	D	0.96430	0.9318	10	0.72032	D	0.01	.	14.9771	0.71283	0.0715:0.0:0.9285:0.0	.	1875	P35556	FBN2_HUMAN	C	1875	ENSP00000262464:R1875C;ENSP00000424571:R1875C	ENSP00000262464:R1875C	R	-	1	0	FBN2	127669153	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.321000	0.79088	2.941000	0.99782	0.655000	0.94253	CGC		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		39	43	0	0	0	1	0	39	43				
TFRC	7037	broad.mit.edu	37	3	195796403	195796403	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195796403C>A	ENST00000360110.4	-	7	893	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.D242Y|TFRC_ENST00000420415.1_Missense_Mutation_p.D161Y	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	242	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|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 plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TCCTCAAAATCTTTTTTAGTA	0.343			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(724-726)Gat>Tat		transferrin receptor							61.0	64.0	63.0					3																	195796403		2203	4299	6502	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195796403C>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.724G>T	3.37:g.195796403C>A	ENSP00000353224:p.Asp242Tyr					TFRC_ENST00000392396.3_Missense_Mutation_p.D242Y|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.D161Y	p.D242Y	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	7	893	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		242			PA.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.724G>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725157	0.68959	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.33654	1.4;1.4;1.4	4.45	4.45	0.53987	Protease-associated domain, PA (1);	0.142317	0.64402	D	0.000009	T	0.73337	0.3574	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83121	-0.0118	10	0.87932	D	0	-22.0887	12.7656	0.57391	0.0:1.0:0.0:0.0	.	242	P02786	TFR1_HUMAN	Y	242;161;242	ENSP00000353224:D242Y;ENSP00000390133:D161Y;ENSP00000376197:D242Y	ENSP00000353224:D242Y	D	-	1	0	TFRC	197280800	1.000000	0.71417	0.981000	0.43875	0.786000	0.44442	6.323000	0.72891	2.462000	0.83206	0.655000	0.94253	GAT		0.343	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			13	16	1	0	1.02788e-11	1	1.10723e-11	13	16				
KRT10	3858	broad.mit.edu	37	17	38978721	38978721	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38978721G>A	ENST00000269576.5	-	1	126	c.117C>T	c.(115-117)agC>agT	p.S39S	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	39	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GGGAGCCTTTGCTGCTAGAAA	0.582																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(115-117)agC>agT		keratin 10							65.0	63.0	64.0					17																	38978721		2203	4300	6503	SO:0001819	synonymous_variant	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978721G>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.117C>T	17.37:g.38978721G>A						TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.S39S	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	126	-		Breast(137;0.000301)	39			Gly-rich.|Head.		Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	c.117C>T	CCDS11377.1																																																																																				0.582	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		12	18	0	0	0	1	0	12	18				
ZNF645	158506	broad.mit.edu	37	X	22291617	22291617	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:22291617G>A	ENST00000323684.1	+	1	553	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	170					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCCCTAAAAGACTGCAAGAC	0.458																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(508-510)aGa>aAa		zinc finger protein 645							103.0	95.0	98.0					X																	22291617		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291617G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.509G>A	X.37:g.22291617G>A	ENSP00000323348:p.Arg170Lys						p.R170K	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	553	+			170					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.509G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.899901	0.00517	.	.	ENSG00000175809	ENST00000323684	T	0.30981	1.51	1.65	-3.31	0.04988	.	0.459032	0.21654	U	0.071134	T	0.12390	0.0301	L	0.43923	1.385	0.09310	N	1	P	0.34977	0.478	B	0.20577	0.03	T	0.47209	-0.9135	10	0.05620	T	0.96	.	4.1632	0.10295	0.0:0.158:0.4238:0.4182	.	170	Q8N7E2	ZN645_HUMAN	K	170	ENSP00000323348:R170K	ENSP00000323348:R170K	R	+	2	0	ZNF645	22201538	0.249000	0.23941	0.000000	0.03702	0.001000	0.01503	0.447000	0.21710	-1.103000	0.03019	-1.297000	0.01338	AGA		0.458	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		37	7	0	0	0	1	0	37	7				
LOC100294341	100294341	broad.mit.edu	37	17	43596380	43596380	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43596380G>A	ENST00000253803.2	+	0	267																											TCTTTGAAGTGCCTTTTCTGG	0.542																																						ENST00000253803.2																			0																																																			0							g.chr17:43596380G>A																													17.37:g.43596380G>A														0	267	+									RNA	SNP	ENST00000253803.2	37																																																																																						0.542	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				24	249	0	0	0	1	0	24	249				
CPXM2	119587	broad.mit.edu	37	10	125528119	125528119	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:125528119C>T	ENST00000241305.3	-	9	1376	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	408					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCAGGTGGACGATGCGCGCA	0.652																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1222-1224)Gtc>Atc		carboxypeptidase X (M14 family), member 2							106.0	94.0	98.0					10																	125528119		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528119C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1222G>A	10.37:g.125528119C>T	ENSP00000241305:p.Val408Ile					CPXM2_ENST00000368854.3_5'UTR	p.V408I	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1376	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	408					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1222G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692973	0.30052	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11063	2.81	4.96	4.04	0.47022	Peptidase M14, carboxypeptidase A (1);	0.147777	0.44902	D	0.000418	T	0.08980	0.0222	L	0.41356	1.27	0.80722	D	1	B	0.18166	0.026	B	0.21708	0.036	T	0.13124	-1.0521	10	0.34782	T	0.22	-40.41	7.1798	0.25765	0.0:0.71:0.1454:0.1446	.	408	Q8N436	CPXM2_HUMAN	I	408;241;408	ENSP00000241305:V408I	ENSP00000241305:V408I	V	-	1	0	CPXM2	125518109	1.000000	0.71417	0.899000	0.35326	0.351000	0.29236	1.817000	0.39002	2.565000	0.86533	0.655000	0.94253	GTC		0.652	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		24	37	0	0	0	1	0	24	37				
CENPP	401541	broad.mit.edu	37	9	95142122	95142122	+	Missense_Mutation	SNP	G	G	A	rs112987350	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95142122G>A	ENST00000375587.3	+	5	1060	c.545G>A	c.(544-546)cGc>cAc	p.R182H		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	182					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.R182H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TATCGTAAGCGCACGTTTAAA	0.343													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17519	0.0		0.001	False		,,,				2504	0.0					ENST00000375587.3																			1	Substitution - Missense(1)	p.R182H(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(544-546)cGc>cAc		centromere protein P		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	148.0	149.0		545	1.8	1.0	9	dbSNP_132	149	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CENPP	NM_001012267.1	29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	182/289	95142122	6,13000	2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95142122G>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.545G>A	9.37:g.95142122G>A	ENSP00000364737:p.Arg182His						p.R182H	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			5	1060	+			182					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.545G>A	CCDS35063.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.77	2.336917	0.41398	2.27E-4	5.81E-4	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	4.92	1.81	0.25067	.	0.826243	0.10755	N	0.637906	T	0.18759	0.0450	L	0.43152	1.355	0.09310	N	1	B;P	0.43885	0.002;0.82	B;B	0.35607	0.007;0.206	T	0.10337	-1.0634	9	0.12430	T	0.62	-0.8251	5.4346	0.16474	0.3146:0.1366:0.5488:0.0	.	182;141	Q6IPU0;Q7Z672	CENPP_HUMAN;.	H	182;141	.	ENSP00000364737:R182H	R	+	2	0	CENPP	94181943	0.019000	0.18553	0.979000	0.43373	0.645000	0.38454	0.675000	0.25232	0.581000	0.29539	-0.244000	0.11960	CGC		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		20	33	0	0	0	1	0	20	33				
MYO10	4651	broad.mit.edu	37	5	16818191	16818191	+	Missense_Mutation	SNP	G	G	A	rs373617137		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16818191G>A	ENST00000513610.1	-	3	660	c.206C>T	c.(205-207)gCg>gTg	p.A69V	MYO10_ENST00000507288.1_Missense_Mutation_p.A69V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	69	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCAAGGACGCCATGTCATC	0.468																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(205-207)gCg>gTg		myosin X							68.0	68.0	68.0					5																	16818191		1979	4157	6136	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16818191G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.206C>T	5.37:g.16818191G>A	ENSP00000421280:p.Ala69Val					MYO10_ENST00000507288.1_Missense_Mutation_p.A69V	p.A69V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			3	660	-			69			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.206C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377401	0.82682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436;ENST00000507288	T;T;T;D	0.95272	-0.6;-0.6;-0.6;-3.66	6.08	6.08	0.98989	Myosin head, motor domain (2);	.	.	.	.	D	0.96156	0.8747	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.97;0.912	D	0.96064	0.9041	9	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	69;36;69	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	V	69;80;36;69	ENSP00000421280:A69V;ENSP00000421309:A80V;ENSP00000426783:A36V;ENSP00000426664:A69V	ENSP00000426783:A36V	A	-	2	0	MYO10	16871191	1.000000	0.71417	0.947000	0.38551	0.136000	0.21042	8.971000	0.93419	2.894000	0.99253	0.655000	0.94253	GCG		0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		7	14	0	0	0	1	0	7	14				
WNT2	7472	broad.mit.edu	37	7	116955208	116955208	+	Missense_Mutation	SNP	G	G	A	rs149362965		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:116955208G>A	ENST00000265441.3	-	3	804	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	169					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R169C(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAAATGCGCGGGCAAATTTG	0.478																																						ENST00000265441.3																			1	Substitution - Missense(1)	p.R169C(1)	skin(1)	breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(505-507)Cgc>Tgc		wingless-type MMTV integration site family member 2							144.0	131.0	135.0					7																	116955208		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955208G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.505C>T	7.37:g.116955208G>A	ENSP00000265441:p.Arg169Cys					AC002465.2_ENST00000436097.1_RNA	p.R169C	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	804	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		169					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.505C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918456	0.52546	.	.	ENSG00000105989	ENST00000265441	T	0.79033	-1.23	5.65	4.77	0.60923	.	0.059928	0.64402	D	0.000002	D	0.89928	0.6857	H	0.95470	3.675	0.53005	D	0.999968	D;D	0.76494	0.999;0.999	D;D	0.67725	0.953;0.953	D	0.91402	0.5144	10	0.87932	D	0	.	9.7806	0.40645	0.0:0.118:0.5005:0.3815	.	169;169	A4D0V1;P09544	.;WNT2_HUMAN	C	169	ENSP00000265441:R169C	ENSP00000265441:R169C	R	-	1	0	WNT2	116742444	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	1.711000	0.37930	1.510000	0.48803	0.655000	0.94253	CGC		0.478	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		35	53	0	0	0	1	0	35	53				
ADAMTS16	170690	broad.mit.edu	37	5	5235199	5235199	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5235199C>T	ENST00000274181.7	+	13	2061	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	641	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAAATGTCCCCGGGACAGTG	0.517																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1921-1923)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							74.0	77.0	76.0					5																	5235199		1940	4140	6080	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235199C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1923C>T	5.37:g.5235199C>T						ADAMTS16_ENST00000513709.1_3'UTR	p.P641P	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2061	+			641			TSP type-1 1.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.1923C>T	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		22	28	0	0	0	1	0	22	28				
MICALL1	85377	broad.mit.edu	37	22	38318135	38318135	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38318135G>A	ENST00000215957.6	+	6	852	c.726G>A	c.(724-726)caG>caA	p.Q242Q		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	242					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)			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)					AGCAGCACCAGCAGCAACTCG	0.662																																						ENST00000215957.6																			0				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						c.(724-726)caG>caA		MICAL-like 1							32.0	33.0	33.0					22																	38318135		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318135G>A	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.726G>A	22.37:g.38318135G>A							p.Q242Q	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			6	852	+	Melanoma(58;0.045)		242					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.726G>A	CCDS13961.1																																																																																				0.662	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	14	0	0	0	1	0	8	14				
TRIM46	80128	broad.mit.edu	37	1	155156356	155156356	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155156356G>A	ENST00000334634.4	+	10	1970	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D	TRIM46_ENST00000368382.1_Missense_Mutation_p.G634D|TRIM46_ENST00000545012.1_Missense_Mutation_p.G531D|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	657	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTAACCATTGGCATGGGCAAG	0.672																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1900-1902)gGc>gAc		tripartite motif containing 46							60.0	60.0	60.0					1																	155156356		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156356G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1970G>A	1.37:g.155156356G>A	ENSP00000334657:p.Gly657Asp					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.G657D|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.G531D	p.G634D	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2038	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		657			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1901G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473053	0.63737	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.65364	-0.15;-0.15;-0.15	3.66	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.66076	0.2753	L	0.54323	1.7	0.50171	D	0.999852	D	0.89917	1.0	D	0.83275	0.996	T	0.65245	-0.6215	10	0.37606	T	0.19	.	13.2723	0.60167	0.0:0.0:1.0:0.0	.	657	Q7Z4K8	TRI46_HUMAN	D	615;531;634;657	ENSP00000440254:G531D;ENSP00000357366:G634D;ENSP00000334657:G657D	ENSP00000334657:G657D	G	+	2	0	TRIM46	153422980	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	8.994000	0.93529	2.065000	0.61736	0.313000	0.20887	GGC		0.672	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		18	39	0	0	0	1	0	18	39				
FAT2	2196	broad.mit.edu	37	5	150945295	150945295	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150945295C>T	ENST00000261800.5	-	1	3210	c.3198G>A	c.(3196-3198)gaG>gaA	p.E1066E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1066	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACTGGAGCTCCCCATCCA	0.622																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3196-3198)gaG>gaA		FAT atypical cadherin 2							53.0	53.0	53.0					5																	150945295		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945295C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3198G>A	5.37:g.150945295C>T							p.E1066E	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3210	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1066			Cadherin 9.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3198G>A	CCDS4317.1																																																																																				0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	12	0	0	0	1	0	7	12				
SIAE	54414	broad.mit.edu	37	11	124530523	124530523	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124530523C>T	ENST00000263593.3	-	3	578		c.e3+1		SIAE_ENST00000545756.1_Splice_Site			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase						carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CTGCAAATTACCTGTAACACA	0.438																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.e3+1		sialic acid acetylesterase							132.0	123.0	126.0					11																	124530523		2201	4299	6500	SO:0001630	splice_region_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124530523C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.405+1G>A	11.37:g.124530523C>T						SIAE_ENST00000545756.1_Splice_Site				Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	3	578	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Splice_Site	SNP	ENST00000263593.3	37		CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221947	0.58560	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1308	0.93406	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIAE	124035733	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	4.906000	0.63293	2.807000	0.96579	0.591000	0.81541	.		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601	Intron	25	50	0	0	0	1	0	25	50				
FBXO42	54455	broad.mit.edu	37	1	16577179	16577179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16577179G>A	ENST00000375592.3	-	10	2356	c.2140C>T	c.(2140-2142)Cga>Tga	p.R714*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	714										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTTTGCTCGTACAAAGTAC	0.398																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(2140-2142)Cga>Tga		F-box protein 42							136.0	131.0	133.0					1																	16577179		2203	4300	6503	SO:0001587	stop_gained	54455							g.chr1:16577179G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2140C>T	1.37:g.16577179G>A	ENSP00000364742:p.Arg714*						p.R714*	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2356	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	714					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	ENST00000375592.3	37	c.2140C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	39	7.877589	0.98539	.	.	ENSG00000037637	ENST00000375592	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1812	18.7864	0.91957	0.0:0.0:1.0:0.0	.	.	.	.	X	714	.	ENSP00000364742:R714X	R	-	1	2	FBXO42	16449766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.360000	0.73064	2.767000	0.95098	0.655000	0.94253	CGA		0.398	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			41	61	0	0	0	1	0	41	61				
PCDHA3	56145	broad.mit.edu	37	5	140182316	140182316	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140182316G>A	ENST00000522353.2	+	1	1534	c.1534G>A	c.(1534-1536)Gcg>Acg	p.A512T	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGGTACACGCGGAGAGCGG	0.701																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1534-1536)Gcg>Acg									75.0	77.0	76.0					5																	140182316		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182316G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1534G>A	5.37:g.140182316G>A	ENSP00000429808:p.Ala512Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512T|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.A512T	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1534	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1534G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934157	0.52866	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.47869	0.83;0.83	4.75	2.79	0.32731	Cadherin (4);Cadherin-like (1);	0.183399	0.25355	U	0.031265	T	0.38852	0.1056	L	0.31526	0.94	0.22292	N	0.999221	P;P	0.52692	0.955;0.653	P;B	0.46320	0.512;0.192	T	0.23511	-1.0186	10	0.62326	D	0.03	.	10.3414	0.43879	0.0:0.1039:0.5561:0.34	.	512;512	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	512	ENSP00000429808:A512T;ENSP00000434086:A512T	ENSP00000429808:A512T	A	+	1	0	PCDHA3	140162500	0.000000	0.05858	1.000000	0.80357	0.857000	0.48899	-1.305000	0.02738	1.119000	0.41883	0.461000	0.40582	GCG		0.701	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		46	52	0	0	0	1	0	46	52				
FANCD2OS	115795	broad.mit.edu	37	3	10146209	10146209	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10146209T>C	ENST00000450660.2	-	2	466	c.250A>G	c.(250-252)Aac>Gac	p.N84D	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.N84D	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	84																	AGTCCTTTGTTGTTCATCGTG	0.542																																						ENST00000450660.2																			0											c.(250-252)Aac>Gac		FANCD2 opposite strand							123.0	113.0	117.0					3																	10146209		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146209T>C	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.250A>G	3.37:g.10146209T>C	ENSP00000429608:p.Asn84Asp					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.N84D	p.N84D	NM_001164839.1	NP_001158311.1					2	466	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.250A>G	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	T	5.020	0.189427	0.09547	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.62	0.0145	0.14100	.	0.774949	0.11867	N	0.521772	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	9	0.28530	T	0.3	.	1.0828	0.01646	0.147:0.202:0.1523:0.4986	.	84	Q96PS1	CC024_HUMAN	D	84	.	ENSP00000429608:N84D	N	-	1	0	C3orf24	10121209	0.015000	0.18098	0.029000	0.17559	0.751000	0.42716	0.661000	0.25023	0.001000	0.14605	0.456000	0.33151	AAC		0.542	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		37	28	0	0	0	1	0	37	28				
GOLPH3	64083	broad.mit.edu	37	5	32135758	32135758	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32135758A>G	ENST00000265070.6	-	3	707	c.392T>C	c.(391-393)gTt>gCt	p.V131A	GOLPH3_ENST00000512668.1_5'UTR|Y_RNA_ENST00000363195.1_RNA	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	131					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ATCAAGAAGAACATCCCCTGT	0.398																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(391-393)gTt>gCt		golgi phosphoprotein 3 (coat-protein)							116.0	112.0	114.0					5																	32135758		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32135758A>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.392T>C	5.37:g.32135758A>G	ENSP00000265070:p.Val131Ala					GOLPH3_ENST00000512668.1_5'UTR	p.V131A	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			3	707	-			131					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.392T>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.305484	0.81247	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.38	5.38	0.77491	.	0.108327	0.64402	D	0.000007	T	0.75162	0.3812	M	0.82056	2.57	0.80722	D	1	B	0.19706	0.038	B	0.39617	0.305	T	0.71797	-0.4484	9	0.27785	T	0.31	.	15.7265	0.77763	1.0:0.0:0.0:0.0	.	131	Q9H4A6	GOLP3_HUMAN	A	131;114	.	ENSP00000265070:V131A	V	-	2	0	GOLPH3	32171515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.183000	0.69458	0.524000	0.50904	GTT		0.398	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		22	49	0	0	0	1	0	22	49				
MPDZ	8777	broad.mit.edu	37	9	13168390	13168390	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:13168390G>A	ENST00000319217.7	-	22	3476	c.3229C>T	c.(3229-3231)Cat>Tat	p.H1077Y	MPDZ_ENST00000381022.2_Missense_Mutation_p.H1077Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000538841.1_5'Flank|MPDZ_ENST00000536827.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.H1077Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.H1077Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1077	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGAGAGAATGTCTTCTCAAC	0.408																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3229-3231)Cat>Tat		multiple PDZ domain protein							201.0	193.0	195.0					9																	13168390		1915	4141	6056	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168390G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3229C>T	9.37:g.13168390G>A	ENSP00000320006:p.His1077Tyr					MPDZ_ENST00000541718.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.H1077Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.H1077Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.H1077Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.H1077Y	p.H1077Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3476	-			1077			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3229C>T		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668075	0.88348	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.36	5.36	0.76844	.	0.000000	0.41396	D	0.000899	T	0.58779	0.2146	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50074	-0.8870	10	0.20046	T	0.44	.	19.4592	0.94910	0.0:0.0:1.0:0.0	.	1077;1077;1077	B7ZMI4;O75970-3;O75970-2	.;.;.	Y	1077;1077;1077;83;1077;1077;1077;1027;1077	ENSP00000320006:H1077Y;ENSP00000439807:H1077Y;ENSP00000370410:H1077Y;ENSP00000444230:H83Y;ENSP00000444151:H1077Y;ENSP00000415208:H1077Y;ENSP00000370403:H1077Y;ENSP00000446358:H1077Y	ENSP00000320006:H1077Y	H	-	1	0	MPDZ	13158390	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.420000	0.97426	2.656000	0.90262	0.655000	0.94253	CAT		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		61	84	0	0	0	1	0	61	84				
TEP1	7011	broad.mit.edu	37	14	20871919	20871919	+	Missense_Mutation	SNP	C	C	T	rs145795987	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20871919C>T	ENST00000262715.5	-	6	1197	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	386	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCTTGGCCCGGTGCTTCCG	0.637													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16213	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1156-1158)cGg>cAg		telomerase-associated protein 1		C	GLN/ARG	15,4391	23.3+/-48.9	0,15,2188	74.0	84.0	81.0		1157	5.5	1.0	14	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TEP1	NM_007110.4	43	0,17,6486	TT,TC,CC		0.0233,0.3404,0.1307	probably-damaging	386/2628	20871919	17,12989	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871919C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1157G>A	14.37:g.20871919C>T	ENSP00000262715:p.Arg386Gln					TEP1_ENST00000556935.1_Intron	p.R386Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1197	-	all_cancers(95;0.00123)	all_lung(585;0.235)	386			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1157G>A	CCDS9548.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	35	5.434921	0.96150	0.003404	2.33E-4	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.24908	1.83	5.54	5.54	0.83059	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54316	-0.8312	10	0.66056	D	0.02	-27.9235	18.2635	0.90044	0.0:1.0:0.0:0.0	.	386	Q99973	TEP1_HUMAN	Q	386	ENSP00000262715:R386Q	ENSP00000262715:R386Q	R	-	2	0	TEP1	19941759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.071000	0.71229	2.601000	0.87937	0.655000	0.94253	CGG		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		28	42	0	0	0	1	0	28	42				
SPOCK1	6695	broad.mit.edu	37	5	136324289	136324289	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:136324289G>A	ENST00000394945.1	-	8	919	c.750C>T	c.(748-750)ggC>ggT	p.G250G	SPOCK1_ENST00000282223.7_Silent_p.G250G|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	250					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAACATCCAGCCCAGGGAGT	0.512																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(748-750)ggC>ggT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							125.0	105.0	111.0					5																	136324289		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324289G>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.750C>T	5.37:g.136324289G>A						SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.G250G	p.G250G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	919	-			250					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.750C>T	CCDS4191.1																																																																																				0.512	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		5	23	0	0	0	1	0	5	23				
RECK	8434	broad.mit.edu	37	9	36087701	36087701	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36087701C>T	ENST00000377966.3	+	9	1214	c.648C>T	c.(646-648)tgC>tgT	p.C216C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	216	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTTTATATTGCTGTGACAGAG	0.373																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(646-648)tgC>tgT		reversion-inducing-cysteine-rich protein with kazal motifs							76.0	75.0	75.0					9																	36087701		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087701C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.648C>T	9.37:g.36087701C>T							p.C216C	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	1214	+			216			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.648C>T	CCDS6597.1																																																																																				0.373	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			17	28	0	0	0	1	0	17	28				
HEATR4	399671	broad.mit.edu	37	14	73985771	73985771	+	Missense_Mutation	SNP	G	G	T	rs141181710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73985771G>T	ENST00000553558.1	-	5	1487	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	HEATR4_ENST00000560393.1_Missense_Mutation_p.P342H|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.P389H	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	389										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TGGAGTTTCAGGGAAGACCTT	0.473																																						ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1165-1167)cCt>cAt		HEAT repeat containing 4							154.0	138.0	143.0					14																	73985771		2203	4300	6503	SO:0001583	missense	399671							g.chr14:73985771G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1166C>A	14.37:g.73985771G>T	ENSP00000450444:p.Pro389His					HEATR4_ENST00000560393.1_Missense_Mutation_p.P342H|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.P389H	p.P389H	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	5	1487	-								B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.1166C>A	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278397	0.80692	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.77620	-1.11	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	D	0.83308	0.5226	L	0.36672	1.1	0.39591	D	0.969585	D	0.89917	1.0	D	0.91635	0.999	D	0.85013	0.0907	10	0.87932	D	0	-15.2431	15.7964	0.78412	0.0:0.0:1.0:0.0	.	389	Q86WZ0	HEAT4_HUMAN	H	389;342	ENSP00000450444:P389H	ENSP00000335447:P342H	P	-	2	0	HEATR4	73055524	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.805000	0.62561	2.813000	0.96785	0.655000	0.94253	CCT		0.473	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		27	36	1	0	2.48779e-11	1	2.67617e-11	27	36				
A1CF	29974	broad.mit.edu	37	10	52587968	52587968	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52587968T>C	ENST00000373993.1	-	5	736	c.692A>G	c.(691-693)aAa>aGa	p.K231R	A1CF_ENST00000373997.3_Missense_Mutation_p.K231R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.K231R|A1CF_ENST00000395489.2_Missense_Mutation_p.K224R|A1CF_ENST00000374001.2_Missense_Mutation_p.K231R|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.K239R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATATAGGATTTTCACTGAAGA	0.363																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(670-672)aAa>aGa		APOBEC1 complementation factor							142.0	139.0	140.0					10																	52587968		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52587968T>C	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.692A>G	10.37:g.52587968T>C	ENSP00000363105:p.Lys231Arg					A1CF_ENST00000374001.1_Missense_Mutation_p.K231R|A1CF_ENST00000373995.3_Missense_Mutation_p.K239R|A1CF_ENST00000373993.1_Missense_Mutation_p.K231R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.K231R|A1CF_ENST00000282641.2_Missense_Mutation_p.K231R	p.K224R	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			9	1067	-			231					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.671A>G	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525594	0.85600	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.48	5.48	0.80851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	L	0.35288	1.05	0.80722	D	1	P;P;D;P	0.71674	0.537;0.609;0.998;0.562	B;B;D;B	0.80764	0.214;0.253;0.994;0.413	T	0.74853	-0.3523	10	0.36615	T	0.2	.	13.525	0.61591	0.0:0.0:0.0:1.0	.	224;231;231;239	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	R	231;231;231;239;231;214;224	ENSP00000363113:K231R;ENSP00000363105:K231R;ENSP00000363109:K231R;ENSP00000363107:K239R;ENSP00000282641:K231R;ENSP00000378868:K224R	ENSP00000282641:K231R	K	-	2	0	A1CF	52257974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.076000	0.62316	0.460000	0.39030	AAA		0.363	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		6	81	0	0	0	1	0	6	81				
FRYL	285527	broad.mit.edu	37	4	48514664	48514664	+	Missense_Mutation	SNP	G	G	A	rs372544952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48514664G>A	ENST00000503238.1	-	54	7978	c.7979C>T	c.(7978-7980)aCg>aTg	p.T2660M	FRYL_ENST00000537810.1_Missense_Mutation_p.T2660M|FRYL_ENST00000507873.2_Missense_Mutation_p.T56M|FRYL_ENST00000358350.4_Missense_Mutation_p.T2660M|FRYL_ENST00000264319.7_Missense_Mutation_p.T56M			O94915	FRYL_HUMAN	FRY-like	2660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGAGGCGACGTCTGTACTTC	0.443																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7978-7980)aCg>aTg		FRY-like		G	MET/THR	0,4106		0,0,2053	73.0	77.0	76.0		7979	4.0	0.1	4		76	1,8413		0,1,4206	no	missense	FRYL	NM_015030.1	81	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	2660/3014	48514664	1,12519	2053	4207	6260	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48514664G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7979C>T	4.37:g.48514664G>A	ENSP00000426064:p.Thr2660Met					FRYL_ENST00000507873.2_Missense_Mutation_p.T56M|FRYL_ENST00000264319.7_Missense_Mutation_p.T56M|FRYL_ENST00000503238.1_Missense_Mutation_p.T2660M|FRYL_ENST00000358350.4_Missense_Mutation_p.T2660M	p.T2660M			O94915	FRYL_HUMAN			57	8583	-			2660					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7979C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929514	0.34096	0.0	1.19E-4	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23950	1.88;1.88;1.89	4.8	3.96	0.45880	.	0.153570	0.43110	U	0.000607	T	0.32971	0.0847	L	0.43152	1.355	0.48762	D	0.999705	P;P;P	0.52463	0.771;0.853;0.953	B;P;P	0.51999	0.411;0.616;0.687	T	0.06534	-1.0821	10	0.54805	T	0.06	.	13.512	0.61517	0.0763:0.0:0.9237:0.0	.	2660;2660;56	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2660;2660;2660;56;56	ENSP00000426064:T2660M;ENSP00000351113:T2660M;ENSP00000441114:T2660M	ENSP00000264319:T56M	T	-	2	0	FRYL	48209421	1.000000	0.71417	0.062000	0.19696	0.006000	0.05464	4.349000	0.59385	1.156000	0.42514	-0.459000	0.05422	ACG		0.443	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	24	0	0	0	1	0	15	24				
PTPRO	5800	broad.mit.edu	37	12	15733025	15733025	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15733025C>A	ENST00000281171.4	+	21	3303	c.2973C>A	c.(2971-2973)gaC>gaA	p.D991E	PTPRO_ENST00000542557.1_Missense_Mutation_p.D152E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D180E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D152E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D180E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D963E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	991	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGGTGCAGACTACATCAATG	0.388																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2971-2973)gaC>gaA		protein tyrosine phosphatase, receptor type, O							62.0	64.0	63.0					12																	15733025		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733025C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2973C>A	12.37:g.15733025C>A	ENSP00000281171:p.Asp991Glu					PTPRO_ENST00000348962.2_Missense_Mutation_p.D963E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D180E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D152E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D152E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D180E	p.D991E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			21	3303	+		Hepatocellular(102;0.244)	991			Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2973C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678125	0.68042	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32	4.5	1.69	0.24217	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.53938	D	0.000046	T	0.42108	0.1188	M	0.88640	2.97	0.52501	D	0.999951	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.991;0.99;0.994	T	0.37934	-0.9684	10	0.87932	D	0	.	7.9246	0.29867	0.0:0.6:0.0:0.4	.	152;963;991	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	991;963;180;152;180;152	ENSP00000281171:D991E;ENSP00000343434:D963E;ENSP00000404188:D180E;ENSP00000437571:D152E;ENSP00000393449:D180E;ENSP00000439234:D152E	ENSP00000281171:D991E	D	+	3	2	PTPRO	15624292	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.394000	0.34509	0.635000	0.30488	-0.137000	0.14449	GAC		0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			17	22	1	0	1.96292e-10	1	2.09789e-10	17	22				
LAMB2	3913	broad.mit.edu	37	3	49169075	49169075	+	Missense_Mutation	SNP	C	C	T	rs1131785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49169075C>T	ENST00000418109.1	-	6	705	c.541G>A	c.(541-543)Gac>Aac	p.D181N	LAMB2_ENST00000305544.4_Missense_Mutation_p.D181N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	181	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCCACAGTCATAGGAGAAA	0.577																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(541-543)Gac>Aac		laminin, beta 2 (laminin S)							97.0	102.0	100.0					3																	49169075		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169075C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.541G>A	3.37:g.49169075C>T	ENSP00000388325:p.Asp181Asn					LAMB2_ENST00000305544.4_Missense_Mutation_p.D181N	p.D181N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	705	-			181			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.541G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085998	0.36758	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.76968	-1.06;-1.06;-1.06	4.85	3.98	0.46160	Laminin, N-terminal (3);	0.160261	0.53938	N	0.000056	T	0.62405	0.2425	N	0.16602	0.42	0.80722	D	1	B	0.13594	0.008	B	0.19148	0.024	T	0.56183	-0.8021	10	0.26408	T	0.33	.	12.6443	0.56725	0.0:0.9198:0.0:0.0802	.	181	P55268	LAMB2_HUMAN	N	181;181;32	ENSP00000388325:D181N;ENSP00000307156:D181N;ENSP00000444751:D32N	ENSP00000307156:D181N	D	-	1	0	LAMB2	49144079	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.631000	0.46502	1.281000	0.44480	0.655000	0.94253	GAC		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		18	41	0	0	0	1	0	18	41				
PACRGL	133015	broad.mit.edu	37	4	20715073	20715073	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:20715073G>A	ENST00000503585.1	+	7	911	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.V174M|PACRGL_ENST00000538990.1_Missense_Mutation_p.V76M|PACRGL_ENST00000507634.1_Missense_Mutation_p.V174M|PACRGL_ENST00000513459.1_Missense_Mutation_p.V121M|PACRGL_ENST00000295290.8_Missense_Mutation_p.V174M|PACRGL_ENST00000444671.2_Missense_Mutation_p.V76M|PACRGL_ENST00000502374.1_Missense_Mutation_p.V121M	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	174										endometrium(2)|lung(7)|prostate(1)	10						GGATGATGAAGTGTTTGAAAG	0.428																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(520-522)Gtg>Atg		PARK2 co-regulated-like							231.0	192.0	206.0					4																	20715073		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715073G>A	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.520G>A	4.37:g.20715073G>A	ENSP00000423881:p.Val174Met					PACRGL_ENST00000503585.1_Missense_Mutation_p.V174M|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.V174M|PACRGL_ENST00000538990.1_Missense_Mutation_p.V76M|PACRGL_ENST00000502374.1_Missense_Mutation_p.V121M|PACRGL_ENST00000444671.2_Missense_Mutation_p.V76M|PACRGL_ENST00000513459.1_Missense_Mutation_p.V121M|PACRGL_ENST00000295290.8_Missense_Mutation_p.V174M	p.V174M	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	911	+			174					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.520G>A	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559533	0.86335	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.73152	3.3;-0.72;3.3;3.3;0.69;3.3;3.3;3.3;3.3;3.3	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.077714	0.53938	D	0.000055	D	0.85843	0.5791	M	0.81942	2.565	0.35820	D	0.824509	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.79784	0.993;0.986;0.972;0.988;0.987;0.976	D	0.88908	0.3357	10	0.72032	D	0.01	-13.8708	20.2228	0.98330	0.0:0.0:1.0:0.0	.	121;174;222;76;121;174	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	M	222;174;174;174;76;76;121;121;76;174;76;174;121;121	ENSP00000423499:V222M;ENSP00000423881:V174M;ENSP00000354171:V174M;ENSP00000295290:V174M;ENSP00000422394:V121M;ENSP00000425461:V121M;ENSP00000422425:V174M;ENSP00000425938:V174M;ENSP00000426286:V121M;ENSP00000421687:V121M	ENSP00000295290:V174M	V	+	1	0	PACRGL	20324171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.083000	0.76859	2.789000	0.95967	0.655000	0.94253	GTG		0.428	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		18	24	0	0	0	1	0	18	24				
XPO4	64328	broad.mit.edu	37	13	21396280	21396280	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21396280G>T	ENST00000255305.6	-	8	1060	c.989C>A	c.(988-990)aCt>aAt	p.T330N	XPO4_ENST00000400602.2_Missense_Mutation_p.T330N			Q9C0E2	XPO4_HUMAN	exportin 4	330					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCCATTGATAGTATTCAGTAA	0.403																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(988-990)aCt>aAt		exportin 4							109.0	103.0	105.0					13																	21396280		1883	4105	5988	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21396280G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.989C>A	13.37:g.21396280G>T	ENSP00000255305:p.Thr330Asn					XPO4_ENST00000255305.6_Missense_Mutation_p.T330N	p.T330N	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	8	1024	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	330					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.989C>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550126	0.45383	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.66638	-0.22;-0.22	5.44	5.44	0.79542	Armadillo-type fold (1);	0.044796	0.85682	D	0.000000	T	0.47655	0.1457	N	0.08118	0	0.49687	D	0.999812	B	0.28971	0.229	B	0.19666	0.026	T	0.42327	-0.9458	10	0.23891	T	0.37	-17.4853	19.622	0.95660	0.0:0.0:1.0:0.0	.	330	Q9C0E2	XPO4_HUMAN	N	330;200;330	ENSP00000383444:T330N;ENSP00000255305:T330N	ENSP00000255305:T330N	T	-	2	0	XPO4	20294280	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.890000	0.75633	2.710000	0.92621	0.563000	0.77884	ACT		0.403	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		28	31	1	0	5.77227e-19	1	6.37883e-19	28	31				
CHTF8	54921	broad.mit.edu	37	16	69154482	69154482	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69154482G>A	ENST00000448552.2	-	4	333	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71V|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000523421.1_Intron	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	71					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										GACAAGGACTGCAAAAGGTTT	0.517																																						ENST00000448552.2																			0											c.(211-213)gCa>gTa		CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)							119.0	120.0	120.0					16																	69154482		1961	4154	6115	SO:0001583	missense	54921				cell cycle|DNA replication	nucleus	DNA binding	g.chr16:69154482G>A		CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.212C>T	16.37:g.69154482G>A	ENSP00000408367:p.Ala71Val					CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71V|CHTF8_ENST00000522091.1_3'UTR	p.A71V	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN			4	333	-			71					A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	c.212C>T	CCDS42185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.925054|2.925054	0.52759|0.52759	.|.	.|.	ENSG00000168802|ENSG00000168802	ENST00000448552;ENST00000398235|ENST00000519520;ENST00000520529	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|.	.|.	.|.	.|.	T|.	0.73760|.	0.3628|.	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	P|.	0.58266|.	0.836|.	T|.	0.76454|.	-0.2953|.	8|.	0.25106|0.87932	T|D	0.35|0	.|.	18.4902|18.4902	0.90844|0.90844	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71|.	P0CG13|.	CTF8_HUMAN|.	V|X	71|12	.|.	ENSP00000381290:A71V|ENSP00000427718:Q12X	A|Q	-|-	2|1	0|0	CHTF8|CHTF8	67711983|67711983	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.947000|0.947000	0.59692|0.59692	8.983000|8.983000	0.93477|0.93477	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.517	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804		29	41	0	0	0	1	0	29	41				
UPF2	26019	broad.mit.edu	37	10	12001315	12001315	+	Missense_Mutation	SNP	G	G	A	rs570251555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12001315G>A	ENST00000356352.2	-	11	2698	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	UPF2_ENST00000397053.2_Missense_Mutation_p.A742V|UPF2_ENST00000357604.5_Missense_Mutation_p.A742V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	742	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GACGTATCTCGCATCAAGATG	0.393																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(2224-2226)gCg>gTg		UPF2 regulator of nonsense transcripts homolog (yeast)							205.0	161.0	176.0					10																	12001315		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12001315G>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2225C>T	10.37:g.12001315G>A	ENSP00000348708:p.Ala742Val					UPF2_ENST00000357604.5_Missense_Mutation_p.A742V|UPF2_ENST00000397053.2_Missense_Mutation_p.A742V	p.A742V			Q9HAU5	RENT2_HUMAN			11	2698	-		Renal(717;0.228)	742			MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2225C>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481077	0.63849	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23348	1.91;1.91;1.91	5.12	5.12	0.69794	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.31578	0.945	0.54753	D	0.999985	P	0.42456	0.78	B	0.36666	0.23	T	0.02603	-1.1135	10	0.27082	T	0.32	.	18.5419	0.91031	0.0:0.0:1.0:0.0	.	742	Q9HAU5	RENT2_HUMAN	V	742	ENSP00000348708:A742V;ENSP00000350221:A742V;ENSP00000380244:A742V	ENSP00000348708:A742V	A	-	2	0	UPF2	12041321	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.568000	0.82369	2.391000	0.81399	0.585000	0.79938	GCG		0.393	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			31	56	0	0	0	1	0	31	56				
ZNF683	257101	broad.mit.edu	37	1	26689533	26689533	+	Missense_Mutation	SNP	C	C	T	rs202155950	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26689533C>T	ENST00000436292.1	-	5	1247	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	ZNF683_ENST00000349618.3_Missense_Mutation_p.R376Q|ZNF683_ENST00000374204.1_Missense_Mutation_p.R376Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R376Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	376					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTTGTGGGGCCGCTCCCCAGT	0.592													C|||	3	0.000599042	0.0	0.0	5008	,	,		19562	0.002		0.0	False		,,,				2504	0.001					ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1126-1128)cGg>cAg		zinc finger protein 683							65.0	56.0	59.0					1																	26689533		2202	4300	6502	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26689533C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1127G>A	1.37:g.26689533C>T	ENSP00000388792:p.Arg376Gln					ZNF683_ENST00000374204.1_Missense_Mutation_p.R376Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.R376Q|ZNF683_ENST00000403843.1_Missense_Mutation_p.R376Q	p.R376Q			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	5	1247	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	376					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1127G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	20.5	4.000406	0.74818	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.19806	2.34;2.34;2.12;2.12	4.28	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31188	N	0.008092	T	0.20495	0.0493	L	0.32530	0.975	0.35601	D	0.807897	D;D	0.60575	0.988;0.979	P;P	0.50934	0.654;0.452	T	0.20240	-1.0281	10	0.72032	D	0.01	-16.5551	6.3224	0.21225	0.0:0.7798:0.0:0.2202	.	376;376	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	Q	376	ENSP00000384782:R376Q;ENSP00000388792:R376Q;ENSP00000363320:R376Q;ENSP00000344095:R376Q	ENSP00000344095:R376Q	R	-	2	0	ZNF683	26562120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.664000	0.54525	1.008000	0.39264	0.462000	0.41574	CGG		0.592	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		4	8	0	0	0	1	0	4	8				
GLYCTK	132158	broad.mit.edu	37	3	52325023	52325023	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52325023C>T	ENST00000436784.2	+	3	485	c.425C>T	c.(424-426)gCg>gTg	p.A142V	GLYCTK_ENST00000473032.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000471180.1_Missense_Mutation_p.A15V|GLYCTK_ENST00000477382.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000354773.4_Missense_Mutation_p.A142V|GLYCTK_ENST00000461183.1_Missense_Mutation_p.A58V|GLYCTK_ENST00000305690.8_Missense_Mutation_p.A142V|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	142					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TTCGAGGGTGCGGAGGACAAC	0.627																																						ENST00000354773.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(424-426)gCg>gTg		glycerate kinase							108.0	88.0	95.0					3																	52325023		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52325023C>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.425C>T	3.37:g.52325023C>T	ENSP00000389175:p.Ala142Val					GLYCTK_ENST00000471180.1_Missense_Mutation_p.A15V|GLYCTK_ENST00000436784.2_Missense_Mutation_p.A142V|GLYCTK_ENST00000305690.8_Missense_Mutation_p.A142V|GLYCTK_ENST00000461183.1_Missense_Mutation_p.A58V|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.A142V|GLYCTK_ENST00000473032.1_Missense_Mutation_p.A142V	p.A142V	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	3	521	+			142					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.425C>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947626	0.73787	.	.	ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000354773;ENST00000471180;ENST00000436784;ENST00000477382	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.38	4.48	0.54585	.	0.051472	0.85682	N	0.000000	D	0.84529	0.5492	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	D	0.87610	0.2503	10	0.87932	D	0	-10.868	13.2457	0.60022	0.0:0.9197:0.0:0.0803	.	142;142;142	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	V	58;142;142;142;15;142;142	ENSP00000417264:A58V;ENSP00000418951:A142V;ENSP00000301965:A142V;ENSP00000346825:A142V;ENSP00000417526:A15V;ENSP00000389175:A142V;ENSP00000419008:A142V	ENSP00000301965:A142V	A	+	2	0	GLYCTK	52300063	1.000000	0.71417	0.152000	0.22495	0.436000	0.31835	7.279000	0.78599	1.187000	0.43000	0.655000	0.94253	GCG		0.627	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		8	15	0	0	0	1	0	8	15				
GALNT12	79695	broad.mit.edu	37	9	101597550	101597550	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:101597550G>T	ENST00000375011.3	+	5	937	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	313	Catalytic subdomain B.				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)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATGGCTGGTGGGCTGTTTGC	0.418																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(937-939)Ggg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							142.0	150.0	147.0					9																	101597550		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101597550G>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.937G>T	9.37:g.101597550G>T	ENSP00000364150:p.Gly313Trp						p.G313W	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			5	937	+		Acute lymphoblastic leukemia(62;0.0559)	313			Catalytic subdomain B.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.937G>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295451	0.81025	.	.	ENSG00000119514	ENST00000375011	T	0.62364	0.03	5.43	5.43	0.79202	Glycosyl transferase, family 2 (1);	0.046562	0.85682	D	0.000000	D	0.87585	0.6214	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92039	0.5639	10	0.87932	D	0	.	17.0949	0.86632	0.0:0.0:1.0:0.0	.	313	Q8IXK2	GLT12_HUMAN	W	313	ENSP00000364150:G313W	ENSP00000364150:G313W	G	+	1	0	GALNT12	100637371	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	9.781000	0.99029	2.722000	0.93159	0.655000	0.94253	GGG		0.418	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		39	80	1	0	4.32679e-17	1	4.75887e-17	39	80				
FBXO34	55030	broad.mit.edu	37	14	55818976	55818976	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55818976G>A	ENST00000313833.4	+	2	2113	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R623Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	623	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGCTGGGTTCGAGATCCACGC	0.478																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1867-1869)cGa>cAa		F-box protein 34							100.0	91.0	94.0					14																	55818976		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818976G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1868G>A	14.37:g.55818976G>A	ENSP00000313159:p.Arg623Gln					FBXO34_ENST00000440021.1_Missense_Mutation_p.R623Q	p.R623Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2113	+			623			F-box.		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1868G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650200	0.29336	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.24151	1.87;1.87	5.91	5.03	0.67393	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.506389	0.19123	N	0.122126	T	0.18467	0.0443	L	0.43757	1.38	0.09310	N	1	P	0.52463	0.953	B	0.35114	0.196	T	0.13953	-1.0490	10	0.33141	T	0.24	.	11.0222	0.47724	0.1412:0.0:0.8588:0.0	.	623	Q9NWN3	FBX34_HUMAN	Q	623	ENSP00000313159:R623Q;ENSP00000394117:R623Q	ENSP00000313159:R623Q	R	+	2	0	FBXO34	54888729	0.023000	0.18921	0.990000	0.47175	0.930000	0.56654	2.143000	0.42187	1.512000	0.48834	0.655000	0.94253	CGA		0.478	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			16	38	0	0	0	1	0	16	38				
ZNF214	7761	broad.mit.edu	37	11	7022150	7022150	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7022150C>T	ENST00000278314.4	-	3	1079	c.764G>A	c.(763-765)tGc>tAc	p.C255Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.C255Y|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTGAGAGAAGCATGCTTTACA	0.398																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(763-765)tGc>tAc		zinc finger protein 214							108.0	102.0	104.0					11																	7022150		2201	4296	6497	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022150C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.764G>A	11.37:g.7022150C>T	ENSP00000278314:p.Cys255Tyr					ZNF214_ENST00000536068.1_Missense_Mutation_p.C255Y	p.C255Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1079	-			255					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.764G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.489297	0.01018	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.14766	2.48;2.48	3.75	0.743	0.18347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.352740	0.04818	N	0.436502	T	0.16685	0.0401	M	0.66378	2.025	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.35895	-0.9770	10	0.66056	D	0.02	.	4.5705	0.12207	0.1917:0.6042:0.0:0.2041	.	255	Q9UL59	ZN214_HUMAN	Y	255	ENSP00000278314:C255Y;ENSP00000445373:C255Y	ENSP00000278314:C255Y	C	-	2	0	ZNF214	6978726	0.000000	0.05858	0.095000	0.20976	0.087000	0.18053	-0.051000	0.11885	0.158000	0.19367	-0.284000	0.09977	TGC		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			30	66	0	0	0	1	0	30	66				
AGO1	26523	broad.mit.edu	37	1	36358239	36358239	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36358239C>T	ENST00000373204.4	+	3	504	c.291C>T	c.(289-291)aaC>aaT	p.N97N	AGO1_ENST00000373206.1_Silent_p.N22N	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	97					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAAAGAAGAACATTTACACTG	0.517																																						ENST00000373204.4																			0											c.(289-291)aaC>aaT		argonaute RISC catalytic component 1							132.0	112.0	119.0					1																	36358239		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36358239C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.291C>T	1.37:g.36358239C>T						AGO1_ENST00000373206.1_Silent_p.N22N	p.N97N	NM_012199.2	NP_036331.1					3	504	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.291C>T	CCDS398.1																																																																																				0.517	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			12	24	0	0	0	1	0	12	24				
PCM1	5108	broad.mit.edu	37	8	17797628	17797628	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:17797628G>A	ENST00000518537.1	+	7	1141	c.861G>A	c.(859-861)tcG>tcA	p.S287S	PCM1_ENST00000325083.8_Intron|PCM1_ENST00000524226.1_Intron|PCM1_ENST00000519253.1_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1	262					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGAGCACATCGCTAAACATAG	0.413			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000518537.1				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(859-861)tcG>tcA		pericentriolar material 1							16.0	15.0	15.0					8																	17797628		875	1989	2864	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17797628G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000518537.1:c.861G>A	8.37:g.17797628G>A						PCM1_ENST00000325083.8_Intron|PCM1_ENST00000519253.1_Intron|PCM1_ENST00000524226.1_Intron	p.S287S			Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	7	1141	+			264					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000518537.1	37	c.861G>A																																																																																					0.413	PCM1-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000374797.1	NM_006197		5	3	0	0	0	1	0	5	3				
HOXB3	3213	broad.mit.edu	37	17	46628468	46628468	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628468C>T	ENST00000470495.1	-	2	1971	c.524G>A	c.(523-525)gGc>gAc	p.G175D	HOXB3_ENST00000311626.4_Missense_Mutation_p.G175D|HOXB3_ENST00000489475.1_Missense_Mutation_p.G102D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G175D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G102D|HOXB3_ENST00000490677.1_Missense_Mutation_p.G41D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G43D|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G43D|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G175D			P14651	HXB3_HUMAN	homeobox B3	175	Gly-rich.				angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCTCCCccgccgccgccgcc	0.771																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(523-525)gGc>gAc		homeobox B3							6.0	9.0	8.0					17																	46628468		1890	3749	5639	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628468C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.524G>A	17.37:g.46628468C>T	ENSP00000417207:p.Gly175Asp					HOXB3_ENST00000490677.1_Missense_Mutation_p.G41D|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G175D|HOXB3_ENST00000311626.4_Missense_Mutation_p.G175D|HOXB3_ENST00000476342.1_Missense_Mutation_p.G175D|HOXB3_ENST00000489475.1_Missense_Mutation_p.G102D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G43D|HOXB3_ENST00000472863.1_Missense_Mutation_p.G102D|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G43D	p.G175D			P14651	HXB3_HUMAN			2	1971	-			175			Gly-rich.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.524G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979343	0.18812	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;T;D;D;D;D	0.98455	-2.89;-4.94;-2.89;-2.89;-0.74;-4.94;-4.94;-4.94;-2.89	3.93	1.9	0.25705	Homeodomain-related (1);	0.246616	0.41605	D	0.000844	D	0.91988	0.7462	N	0.22421	0.69	0.80722	D	1	B	0.32245	0.361	B	0.26416	0.069	D	0.87028	0.2133	10	0.05959	T	0.93	.	5.4238	0.16415	0.0:0.6807:0.2057:0.1137	.	175	P14651	HXB3_HUMAN	D	175;102;175;175;41;43;43;102;175	ENSP00000417207:G175D;ENSP00000419676:G102D;ENSP00000308252:G175D;ENSP00000420595:G175D;ENSP00000449977:G41D;ENSP00000418035:G43D;ENSP00000438747:G43D;ENSP00000418729:G102D;ENSP00000418892:G175D	ENSP00000308252:G175D	G	-	2	0	HOXB3	43983467	0.997000	0.39634	1.000000	0.80357	0.457000	0.32468	0.841000	0.27613	0.434000	0.26340	-0.150000	0.13652	GGC		0.771	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			19	19	0	0	0	1	0	19	19				
LOC645166	645166	broad.mit.edu	37	1	148932814	148932814	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:148932814G>A	ENST00000539543.1	+	0	70					NR_027355.2																						AAGCTAGCCCGCCAGGCCTCC	0.602																																						ENST00000539543.1																			0																																																			0							g.chr1:148932814G>A																													1.37:g.148932814G>A								NR_027355.1						0	70	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.602	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				6	94	0	0	0	1	0	6	94				
RRP12	23223	broad.mit.edu	37	10	99141223	99141223	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99141223G>A	ENST00000370992.4	-	12	1449	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	RRP12_ENST00000414986.1_Silent_p.C385C|RRP12_ENST00000315563.6_Silent_p.C346C|RRP12_ENST00000536831.1_Silent_p.C164C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	446						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGGAGCCACGCATTCCTTCA	0.612																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1336-1338)tgC>tgT		ribosomal RNA processing 12 homolog (S. cerevisiae)							62.0	50.0	54.0					10																	99141223		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99141223G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1338C>T	10.37:g.99141223G>A						RRP12_ENST00000536831.1_Silent_p.C164C|RRP12_ENST00000414986.1_Silent_p.C385C|RRP12_ENST00000315563.6_Silent_p.C346C	p.C446C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	12	1449	-		Colorectal(252;0.162)	446					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.1338C>T	CCDS7457.1																																																																																				0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		5	12	0	0	0	1	0	5	12				
SRSF12	135295	broad.mit.edu	37	6	89814883	89814883	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:89814883C>T	ENST00000452027.2	-	4	564	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	124	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CCATGAAGAACTTCTACTTCG	0.418																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(370-372)aGt>aAt		serine/arginine-rich splicing factor 12							76.0	66.0	69.0					6																	89814883		1830	4085	5915	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89814883C>T	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.371G>A	6.37:g.89814883C>T	ENSP00000414302:p.Ser124Asn						p.S124N	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			4	564	-			124			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.371G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197200	0.38806	.	.	ENSG00000154548	ENST00000452027	T	0.10192	2.9	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.20047	0.0482	M	0.71206	2.165	0.43902	D	0.996537	D	0.57899	0.981	D	0.67900	0.954	T	0.03306	-1.1050	10	0.15952	T	0.53	.	17.6188	0.88075	0.0:1.0:0.0:0.0	.	124	Q8WXF0	SRS12_HUMAN	N	124	ENSP00000414302:S124N	ENSP00000414302:S124N	S	-	2	0	SRSF12	89871602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.538000	0.73852	2.695000	0.91970	0.650000	0.86243	AGT		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		14	8	0	0	0	1	0	14	8				
C5orf51	285636	broad.mit.edu	37	5	41917210	41917210	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:41917210A>C	ENST00000381647.2	+	6	713	c.694A>C	c.(694-696)Aat>Cat	p.N232H		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	232										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCAACCAGAAAATCATGAAGT	0.418																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(694-696)Aat>Cat		chromosome 5 open reading frame 51							124.0	119.0	121.0					5																	41917210		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41917210A>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.694A>C	5.37:g.41917210A>C	ENSP00000371061:p.Asn232His						p.N232H	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			6	713	+			232					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.694A>C	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	A	8.602	0.887119	0.17540	.	.	ENSG00000205765	ENST00000381647	D	0.82255	-1.59	5.67	1.68	0.24146	.	0.425256	0.24357	N	0.039225	T	0.64305	0.2586	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52388	-0.8582	10	0.37606	T	0.19	-1.7831	6.4428	0.21859	0.6216:0.3003:0.0781:0.0	.	232	A6NDU8	CE051_HUMAN	H	232	ENSP00000371061:N232H	ENSP00000371061:N232H	N	+	1	0	C5orf51	41952967	0.358000	0.24947	0.078000	0.20375	0.452000	0.32318	1.038000	0.30254	0.398000	0.25338	-0.250000	0.11733	AAT		0.418	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		30	60	0	0	0	1	0	30	60				
THBS1	7057	broad.mit.edu	37	15	39883713	39883713	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:39883713C>T	ENST00000260356.5	+	16	2586	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	807					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAGGTATCCTCAATGAACGGG	0.478																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2419-2421)ctC>ctT		thrombospondin 1	Becaplermin(DB00102)						149.0	130.0	137.0					15																	39883713		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39883713C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2421C>T	15.37:g.39883713C>T							p.L807L	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	16	2586	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	807					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.2421C>T	CCDS32194.1																																																																																				0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		11	16	0	0	0	1	0	11	16				
ABI1	10006	broad.mit.edu	37	10	27048050	27048050	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27048050G>A	ENST00000376142.2	-	9	1090	c.1019C>T	c.(1018-1020)aCt>aTt	p.T340I	ABI1_ENST00000490841.2_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.T341I|ABI1_ENST00000376138.3_Missense_Mutation_p.T313I|ABI1_ENST00000359188.4_Missense_Mutation_p.T312I|ABI1_ENST00000376170.4_Missense_Mutation_p.T312I|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Missense_Mutation_p.T313I|ABI1_ENST00000376134.3_Missense_Mutation_p.T314I|ABI1_ENST00000376139.2_Missense_Mutation_p.T308I|ABI1_ENST00000346832.5_Missense_Mutation_p.T357I|ABI1_ENST00000376166.1_Missense_Mutation_p.T307I|ABI1_ENST00000376160.1_Missense_Mutation_p.T307I|ABI1_ENST00000536334.1_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	340	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTGAGCAGTCACAGAGGG	0.463																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1021-1023)aCt>aTt		abl-interactor 1							155.0	141.0	146.0					10																	27048050		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27048050G>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1019C>T	10.37:g.27048050G>A	ENSP00000365312:p.Thr340Ile					ABI1_ENST00000536334.1_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Missense_Mutation_p.T312I|ABI1_ENST00000376134.3_Missense_Mutation_p.T314I|ABI1_ENST00000359188.4_Missense_Mutation_p.T312I|ABI1_ENST00000376138.3_Missense_Mutation_p.T313I|ABI1_ENST00000376139.2_Missense_Mutation_p.T308I|ABI1_ENST00000346832.5_Missense_Mutation_p.T357I|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376160.1_Missense_Mutation_p.T307I|ABI1_ENST00000376142.2_Missense_Mutation_p.T340I|ABI1_ENST00000376166.1_Missense_Mutation_p.T307I|ABI1_ENST00000376140.3_Missense_Mutation_p.T313I	p.T341I			Q8IZP0	ABI1_HUMAN			9	1245	-			340			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.1022C>T	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522925	0.85600	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T	0.42513	1.14;1.17;1.18;1.07;1.01;1.07;1.07;1.11;1.15;0.97;1.07	5.67	4.77	0.60923	.	0.150356	0.64402	D	0.000012	T	0.51975	0.1706	L	0.42245	1.32	0.80722	D	1	D;D;P;P;P;D;P;P;P	0.60160	0.977;0.961;0.951;0.821;0.586;0.987;0.821;0.821;0.871	P;P;P;B;B;P;B;P;B	0.58660	0.756;0.653;0.503;0.415;0.342;0.843;0.415;0.471;0.424	T	0.54351	-0.8307	10	0.59425	D	0.04	-8.1553	14.7856	0.69800	0.0694:0.0:0.9305:0.0	.	179;307;337;312;357;313;308;313;340	B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;ABI1_HUMAN	I	313;312;307;307;340;312;308;341;357;314;313	ENSP00000365308:T313I;ENSP00000365340:T312I;ENSP00000365336:T307I;ENSP00000365330:T307I;ENSP00000365312:T340I;ENSP00000352114:T312I;ENSP00000365309:T308I;ENSP00000347555:T341I;ENSP00000279599:T357I;ENSP00000365304:T314I;ENSP00000365310:T313I	ENSP00000279599:T357I	T	-	2	0	ABI1	27088056	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.845000	0.99498	1.402000	0.46780	0.591000	0.81541	ACT		0.463	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		29	29	0	0	0	1	0	29	29				
PARS2	25973	broad.mit.edu	37	1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55224719C>T	ENST00000371279.3	-	2	198	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	39					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.607																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(115-117)cGc>cAc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						33.0	33.0	33.0					1																	55224719		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224719C>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.116G>A	1.37:g.55224719C>T	ENSP00000360327:p.Arg39His						p.R39H	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	198	-			39					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.116G>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681541	0.14907	.	.	ENSG00000162396	ENST00000371279	T	0.47528	0.84	5.1	1.06	0.20224	.	0.414217	0.25526	N	0.030071	T	0.40272	0.1110	M	0.69823	2.125	0.36904	D	0.890576	B	0.24317	0.101	B	0.14023	0.01	T	0.37009	-0.9724	10	0.72032	D	0.01	-10.2981	4.6579	0.12628	0.1524:0.6082:0.0:0.2394	.	39	Q7L3T8	SYPM_HUMAN	H	39	ENSP00000360327:R39H	ENSP00000360327:R39H	R	-	2	0	PARS2	54997307	1.000000	0.71417	0.987000	0.45799	0.006000	0.05464	2.032000	0.41127	0.169000	0.19679	-0.218000	0.12543	CGC		0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		7	11	0	0	0	1	0	7	11				
AHCYL1	10768	broad.mit.edu	37	1	110561184	110561184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110561184G>A	ENST00000369799.5	+	13	1596	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R363H|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R363H	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	410	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ACCAGCCTCCGCACTCCGGAG	0.502																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1228-1230)cGc>cAc		adenosylhomocysteinase-like 1							73.0	57.0	62.0					1																	110561184		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110561184G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1229G>A	1.37:g.110561184G>A	ENSP00000358814:p.Arg410His					AHCYL1_ENST00000393614.4_Missense_Mutation_p.R363H|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R363H	p.R410H	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	13	1596	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	410			NAD binding (By similarity).		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1229G>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854645	0.71719	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78246	-1.16;-1.14;-1.14	5.42	5.42	0.78866	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.45352	1.415	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.62148	-0.6915	10	0.49607	T	0.09	-18.1059	19.2323	0.93845	0.0:0.0:1.0:0.0	.	410	O43865	SAHH2_HUMAN	H	410;363;363	ENSP00000358814:R410H;ENSP00000352092:R363H;ENSP00000377238:R363H	ENSP00000352092:R363H	R	+	2	0	AHCYL1	110362707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.541000	0.85698	0.655000	0.94253	CGC		0.502	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			10	15	0	0	0	1	0	10	15				
PDXK	8566	broad.mit.edu	37	21	45172433	45172433	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45172433C>T	ENST00000291565.4	+	8	728	c.545C>T	c.(544-546)aCc>aTc	p.T182I	PDXK_ENST00000468090.1_Missense_Mutation_p.T154I|PDXK_ENST00000467908.1_Missense_Mutation_p.T142I	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	182					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)			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)	GGCCCCGACACCGTGGTCATC	0.642																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(544-546)aCc>aTc		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						122.0	78.0	93.0					21																	45172433		2203	4300	6503	SO:0001583	missense	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.chr21:45172433C>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.545C>T	21.37:g.45172433C>T	ENSP00000291565:p.Thr182Ile					PDXK_ENST00000467908.1_Missense_Mutation_p.T142I|PDXK_ENST00000468090.1_Missense_Mutation_p.T154I	p.T182I	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	8	728	+			182					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.545C>T	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958549	0.53400	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	T;T;T	0.77750	-1.12;-1.12;-1.12	5.0	5.0	0.66597	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	L	0.54323	1.7	0.80722	D	1	B;P;P	0.40376	0.197;0.675;0.715	B;B;P	0.55161	0.346;0.382;0.77	T	0.78380	-0.2226	10	0.19590	T	0.45	-40.0324	18.2893	0.90124	0.0:1.0:0.0:0.0	.	182;154;182	F2Z3F8;O00764-2;O00764	.;.;PDXK_HUMAN	I	154;182;182;142	ENSP00000418359:T154I;ENSP00000291565:T182I;ENSP00000420708:T142I	ENSP00000291565:T182I	T	+	2	0	PDXK	43996861	1.000000	0.71417	0.891000	0.34965	0.497000	0.33675	6.866000	0.75506	2.487000	0.83934	0.530000	0.56133	ACC		0.642	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		15	6	0	0	0	1	0	15	6				
NBPF10	100132406	broad.mit.edu	37	1	145311109	145311109	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145311109G>A	ENST00000369339.3	+	10	1248	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	NBPF10_ENST00000369338.1_Missense_Mutation_p.R332Q|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R603Q			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	603						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAGGACATCGGTGGGATCAA	0.448																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1807-1809)cGg>cAg		neuroblastoma breakpoint family, member 10							152.0	126.0	134.0					1																	145311109		692	1591	2283	SO:0001583	missense	100132406							g.chr1:145311109G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.995G>A	1.37:g.145311109G>A	ENSP00000358345:p.Arg332Gln					NBPF10_ENST00000369339.2_Missense_Mutation_p.R332Q|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.R332Q	p.R603Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	13	1843	+	all_hematologic(923;0.032)		603					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1808G>A		.	.	.	.	.	.	.	.	.	.	.	0.817	-0.749848	0.03041	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000369338;ENST00000369364;ENST00000342960	T;T	0.03330	4.03;3.97	0.429	0.429	0.16506	.	.	.	.	.	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	D	0.56746	0.977	P	0.47075	0.536	T	0.33292	-0.9874	8	0.20046	T	0.44	.	.	.	.	.	278	Q4VC10	.	Q	334;528;332;9;603	ENSP00000358344:R332Q;ENSP00000345684:R603Q	ENSP00000345684:R603Q	R	+	2	0	NBPF10	144022466	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	-0.590000	0.05760	-1.011000	0.03391	-1.514000	0.00941	CGG		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		34	430	0	0	0	1	0	34	430				
GCN1L1	10985	broad.mit.edu	37	12	120594309	120594309	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120594309C>T	ENST00000300648.6	-	28	3280	c.3268G>A	c.(3268-3270)Gcc>Acc	p.A1090T	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1090					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGCAAGGCACAGAGCAGC	0.607																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3268-3270)Gcc>Acc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							53.0	60.0	57.0					12																	120594309		2184	4277	6461	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120594309C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3268G>A	12.37:g.120594309C>T	ENSP00000300648:p.Ala1090Thr						p.A1090T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			28	3280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1090					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3268G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463191	0.96257	.	.	ENSG00000089154	ENST00000300648	T	0.39056	1.1	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.051148	0.85682	D	0.000000	T	0.58119	0.2100	M	0.69823	2.125	0.80722	D	1	D	0.58268	0.982	P	0.51701	0.677	T	0.56992	-0.7887	10	0.51188	T	0.08	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1090	Q92616	GCN1L_HUMAN	T	1090	ENSP00000300648:A1090T	ENSP00000300648:A1090T	A	-	1	0	GCN1L1	119078692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.467000	0.66737	2.871000	0.98454	0.655000	0.94253	GCC		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	6	0	0	0	1	0	5	6				
DROSHA	29102	broad.mit.edu	37	5	31435893	31435893	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31435893C>T	ENST00000511367.2	-	24	3265	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	DROSHA_ENST00000513349.1_Silent_p.Q970Q|DROSHA_ENST00000442743.1_Silent_p.Q970Q|DROSHA_ENST00000344624.3_Silent_p.Q1007Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1007	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGGCAAGGTGCTGATTCTGAA	0.403																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3019-3021)caG>caA		drosha, ribonuclease type III							119.0	116.0	117.0					5																	31435893		1949	4145	6094	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31435893C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3021G>A	5.37:g.31435893C>T						DROSHA_ENST00000344624.3_Silent_p.Q1007Q|DROSHA_ENST00000513349.1_Silent_p.Q970Q|DROSHA_ENST00000442743.1_Silent_p.Q970Q	p.Q1007Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			24	3265	-			1007			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.3021G>A	CCDS47195.1																																																																																				0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		14	29	0	0	0	1	0	14	29				
KBTBD13	390594	broad.mit.edu	37	15	65370349	65370349	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65370349G>A	ENST00000432196.2	+	1	1196	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	399					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						GCCGTGGTGCGCGGTGACACC	0.672																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(1195-1197)cGc>cAc		kelch repeat and BTB (POZ) domain containing 13							15.0	16.0	16.0					15																	65370349		2070	4138	6208	SO:0001583	missense	390594					cytoplasm		g.chr15:65370349G>A		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.1196G>A	15.37:g.65370349G>A	ENSP00000388723:p.Arg399His						p.R399H	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	1196	+			399						Missense_Mutation	SNP	ENST00000432196.2	37	c.1196G>A	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375322	0.42105	.	.	ENSG00000234438	ENST00000432196	T	0.65732	-0.17	4.97	4.97	0.65823	Kelch-type beta propeller (1);	.	.	.	.	T	0.68137	0.2968	L	0.55990	1.75	0.35340	D	0.786392	D	0.89917	1.0	D	0.63957	0.92	T	0.69030	-0.5253	9	0.15066	T	0.55	.	9.9831	0.41826	0.1312:0.0:0.8688:0.0	.	399	C9JR72	KBTBD_HUMAN	H	399	ENSP00000388723:R399H	ENSP00000388723:R399H	R	+	2	0	KBTBD13	63157402	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	4.058000	0.57463	2.295000	0.77249	0.655000	0.94253	CGC		0.672	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		4	13	0	0	0	1	0	4	13				
TPTE	7179	broad.mit.edu	37	21	10933852	10933852	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:10933852C>A	ENST00000361285.4	-	17	1356	c.1027G>T	c.(1027-1029)Gat>Tat	p.D343Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.D305Y|TPTE_ENST00000298232.7_Splice_Site_p.D325Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	343	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTTATTACCTGTGCCTCCT	0.323																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e16+1		transmembrane phosphatase with tensin homology							231.0	225.0	227.0					21																	10933852		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933852C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1027+1G>T	21.37:g.10933852C>A						TPTE_ENST00000361285.4_Splice_Site_p.D343_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.D305_splice	p.D325_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1340	-			343			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.973_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515098	0.27123	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85629	-2.01;-2.01;-2.01	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	N	0.08118	0	0.26565	N	0.973663	B;B;P	0.40515	0.273;0.273;0.719	B;B;P	0.49477	0.04;0.04;0.612	T	0.65055	-0.6261	9	.	.	.	-10.3928	7.7201	0.28727	0.0:1.0:0.0:0.0	.	305;325;343	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	325;343;305	ENSP00000298232:D325Y;ENSP00000355208:D343Y;ENSP00000344441:D305Y	.	D	-	1	0	TPTE	9955723	1.000000	0.71417	0.803000	0.32268	0.006000	0.05464	5.711000	0.68400	1.470000	0.48102	0.194000	0.17425	GAT		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	28	131	1	0	1.80694e-10	1	1.9322e-10	28	131				
ZNF221	7638	broad.mit.edu	37	19	44470941	44470941	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44470941G>T	ENST00000251269.5	+	6	1615	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	ZNF221_ENST00000592350.1_Missense_Mutation_p.K429N|ZNF221_ENST00000587682.1_Missense_Mutation_p.K429N	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AATGTGGGAAGGGATTTTATA	0.418																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1285-1287)aaG>aaT		zinc finger protein 221							71.0	72.0	72.0					19																	44470941		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470941G>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1287G>T	19.37:g.44470941G>T	ENSP00000251269:p.Lys429Asn					ZNF221_ENST00000587682.1_Missense_Mutation_p.K429N|ZNF221_ENST00000592350.1_Missense_Mutation_p.K429N	p.K429N	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1615	+		Prostate(69;0.0352)	429					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1287G>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	18.64	3.666479	0.67814	.	.	ENSG00000159905	ENST00000251269	T	0.27890	1.64	2.33	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53834	0.1821	M	0.91459	3.21	0.09310	N	0.999991	D	0.76494	0.999	D	0.72982	0.979	T	0.44498	-0.9324	9	0.87932	D	0	.	3.2952	0.06964	0.5026:0.0:0.3042:0.1933	.	429	Q9UK13	ZN221_HUMAN	N	429	ENSP00000251269:K429N	ENSP00000251269:K429N	K	+	3	2	ZNF221	49162781	0.010000	0.17322	0.004000	0.12327	0.961000	0.63080	0.050000	0.14120	-0.519000	0.06444	0.313000	0.20887	AAG		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			24	33	1	0	1.85244e-09	1	1.96811e-09	24	33				
TAOK3	51347	broad.mit.edu	37	12	118639201	118639201	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:118639201G>T	ENST00000392533.3	-	12	1377	c.887C>A	c.(886-888)gCa>gAa	p.A296E	TAOK3_ENST00000419821.2_Missense_Mutation_p.A296E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	296					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCACGAACTGCATCTTTTGT	0.433																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(886-888)gCa>gAa		TAO kinase 3							132.0	118.0	123.0					12																	118639201		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639201G>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.887C>A	12.37:g.118639201G>T	ENSP00000376317:p.Ala296Glu					TAOK3_ENST00000419821.2_Missense_Mutation_p.A296E	p.A296E	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			12	1377	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		296					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.887C>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491436	0.96339	.	.	ENSG00000135090	ENST00000419821;ENST00000392533	D;D	0.85339	-1.97;-1.97	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.80847	2.515	0.80722	D	1	D	0.54047	0.964	P	0.50405	0.64	D	0.91639	0.5325	10	0.87932	D	0	.	18.0158	0.89239	0.0:0.0:1.0:0.0	.	296	Q9H2K8	TAOK3_HUMAN	E	296	ENSP00000416374:A296E;ENSP00000376317:A296E	ENSP00000376317:A296E	A	-	2	0	TAOK3	117123584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.564000	0.98151	2.489000	0.83994	0.591000	0.81541	GCA		0.433	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		37	31	1	0	6.90743e-12	1	7.45315e-12	37	31				
AEN	64782	broad.mit.edu	37	15	89172628	89172628	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89172628G>A	ENST00000332810.3	+	3	863	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AEN_ENST00000379231.3_Missense_Mutation_p.A238T	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	238	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAGGACCTGGCCCTGCAGCT	0.652																																						ENST00000332810.3																			0				NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(712-714)Gcc>Acc		apoptosis enhancing nuclease							44.0	49.0	47.0					15																	89172628		2200	4299	6499	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89172628G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.712G>A	15.37:g.89172628G>A	ENSP00000331944:p.Ala238Thr					AEN_ENST00000379231.3_Missense_Mutation_p.A238T	p.A238T	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN			3	863	+			238			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.712G>A	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506372	0.64410	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.26518	1.73;1.73	5.6	4.63	0.57726	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.093179	0.45361	D	0.000374	T	0.27900	0.0687	N	0.20304	0.555	0.43942	D	0.996602	P;P	0.36438	0.498;0.553	P;P	0.51806	0.551;0.68	T	0.03503	-1.1030	10	0.13470	T	0.59	-1.1628	14.3846	0.66934	0.0:0.0:0.8517:0.1483	.	238;238	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	T	238	ENSP00000331944:A238T;ENSP00000368533:A238T	ENSP00000331944:A238T	A	+	1	0	AEN	86973632	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.774000	0.47694	2.644000	0.89710	0.655000	0.94253	GCC		0.652	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		7	48	0	0	0	1	0	7	48				
PDE5A	8654	broad.mit.edu	37	4	120442131	120442131	+	Missense_Mutation	SNP	C	C	T	rs199541416		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:120442131C>T	ENST00000354960.3	-	13	2183	c.1864G>A	c.(1864-1866)Gct>Act	p.A622T	PDE5A_ENST00000512739.1_5'Flank|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.A580T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A570T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	622	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ATGCACTGAGCTGTATTAAAG	0.328																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1864-1866)Gct>Act		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						138.0	140.0	139.0					4																	120442131		2202	4300	6502	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442131C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1864G>A	4.37:g.120442131C>T	ENSP00000347046:p.Ala622Thr					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.A570T|PDE5A_ENST00000264805.5_Missense_Mutation_p.A580T	p.A622T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			13	2183	-			622			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1864G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129329	0.77549	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.79940	-1.32;-1.32;-1.32	5.93	5.93	0.95920	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.095616	0.64402	N	0.000001	T	0.73613	0.3609	N	0.16790	0.44	0.80722	D	1	P;P	0.38535	0.484;0.635	B;B	0.40702	0.338;0.134	T	0.72676	-0.4221	10	0.37606	T	0.19	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	622;580	O76074;O76074-2	PDE5A_HUMAN;.	T	622;570;580	ENSP00000347046:A622T;ENSP00000377957:A570T;ENSP00000264805:A580T	ENSP00000264805:A580T	A	-	1	0	PDE5A	120661579	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.950000	0.70265	2.805000	0.96524	0.655000	0.94253	GCT		0.328	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		8	92	0	0	0	1	0	8	92				
LSR	51599	broad.mit.edu	37	19	35741376	35741376	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35741376G>A	ENST00000361790.3	+	2	571	c.412G>A	c.(412-414)Gat>Aat	p.D138N	LSR_ENST00000360798.3_Missense_Mutation_p.D138N|LSR_ENST00000597933.1_3'UTR|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.D90N|LSR_ENST00000347609.4_Missense_Mutation_p.D101N|LSR_ENST00000602122.1_Missense_Mutation_p.D138N|LSR_ENST00000354900.3_Missense_Mutation_p.D138N	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	138	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGCATCGCCGATGCCTTCTC	0.632																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(412-414)Gat>Aat		lipolysis stimulated lipoprotein receptor							141.0	119.0	126.0					19																	35741376		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741376G>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.412G>A	19.37:g.35741376G>A	ENSP00000354575:p.Asp138Asn					LSR_ENST00000354900.3_Missense_Mutation_p.D138N|LSR_ENST00000347609.4_Missense_Mutation_p.D101N|LSR_ENST00000427250.1_Missense_Mutation_p.D90N|LSR_ENST00000361790.3_Missense_Mutation_p.D138N|LSR_ENST00000360798.3_Missense_Mutation_p.D138N|LSR_ENST00000597933.1_3'UTR	p.D138N			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	899	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		138			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.412G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102322	0.76983	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.70516	0.09;0.17;-0.21;-0.13;-0.49	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.055341	0.64402	D	0.000001	T	0.80752	0.4683	L	0.55990	1.75	0.35176	D	0.772069	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.76071	0.946;0.963;0.987;0.982;0.956;0.97	D	0.86070	0.1537	10	0.72032	D	0.01	-19.434	15.5729	0.76354	0.0:0.0:1.0:0.0	.	95;101;138;138;138;138	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	N	138;138;138;101;90	ENSP00000354575:D138N;ENSP00000346976:D138N;ENSP00000354034:D138N;ENSP00000262627:D101N;ENSP00000394479:D90N	ENSP00000262627:D101N	D	+	1	0	LSR	40433216	1.000000	0.71417	0.803000	0.32268	0.200000	0.23975	5.966000	0.70395	2.548000	0.85928	0.655000	0.94253	GAT		0.632	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		22	37	0	0	0	1	0	22	37				
GPR179	440435	broad.mit.edu	37	17	36489878	36489878	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36489878G>A	ENST00000342292.4	-	9	1848	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	610					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L610F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGAAGAAGAGGAGGAGGGTC	0.612											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342292.4																			1	Substitution - Missense(1)	p.L610F(1)	endometrium(1)	breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1828-1830)Ctc>Ttc		G protein-coupled receptor 179							77.0	98.0	91.0					17																	36489878		2155	4246	6401	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489878G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1828C>T	17.37:g.36489878G>A	ENSP00000345060:p.Leu610Phe		OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.L610F	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			9	1848	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	610						Missense_Mutation	SNP	ENST00000342292.4	37	c.1828C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661613	0.67700	.	.	ENSG00000188888	ENST00000342292	D	0.88201	-2.35	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000014	D	0.93203	0.7835	M	0.72894	2.215	0.45390	D	0.99837	D	0.89917	1.0	D	0.81914	0.995	D	0.92825	0.6275	10	0.54805	T	0.06	-18.4219	13.1933	0.59723	0.0:0.0:0.8399:0.1601	.	610	Q6PRD1	GP179_HUMAN	F	610	ENSP00000345060:L610F	ENSP00000345060:L610F	L	-	1	0	GPR179	33743404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.793000	0.62474	2.769000	0.95229	0.563000	0.77884	CTC		0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			12	26	0	0	0	1	0	12	26				
FMO3	2328	broad.mit.edu	37	1	171085413	171085413	+	Missense_Mutation	SNP	C	C	T	rs149551557	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171085413C>T	ENST00000367755.4	+	8	1360	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	FMO3_ENST00000392085.2_Missense_Mutation_p.R417C|FMO3_ENST00000542847.1_Missense_Mutation_p.R397C|FMO3_ENST00000538429.1_Missense_Mutation_p.R354C	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	417					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGAGAAAAAGCGCAAATGGTA	0.328													C|||	3	0.000599042	0.0	0.0	5008	,	,		18812	0.0		0.0	False		,,,				2504	0.0031					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1249-1251)Cgc>Tgc		flavin containing monooxygenase 3		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134.0	133.0	134.0		1249,1249	0.5	0.0	1	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	FMO3	NM_001002294.2,NM_006894.5	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	417/533,417/533	171085413	2,13004	2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171085413C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1249C>T	1.37:g.171085413C>T	ENSP00000356729:p.Arg417Cys					FMO3_ENST00000538429.1_Missense_Mutation_p.R354C|FMO3_ENST00000542847.1_Missense_Mutation_p.R397C|FMO3_ENST00000392085.2_Missense_Mutation_p.R417C	p.R417C	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			8	1360	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		417					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1249C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	3.924	-0.017629	0.07681	0.0	2.33E-4	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.71	0.484	0.16825	.	1.116300	0.06681	N	0.767918	T	0.35248	0.0925	L	0.45137	1.4	0.09310	N	1	P;P;P	0.50943	0.94;0.901;0.6	B;P;P	0.49140	0.398;0.594;0.601	T	0.18840	-1.0324	10	0.52906	T	0.07	-0.3399	3.8448	0.08930	0.3761:0.3755:0.0:0.2484	.	354;397;417	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	C	417;417;397;354	ENSP00000356729:R417C;ENSP00000375935:R417C;ENSP00000444073:R397C;ENSP00000439500:R354C	ENSP00000356729:R417C	R	+	1	0	FMO3	169352037	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.251000	0.08818	0.174000	0.19809	-0.147000	0.13772	CGC		0.328	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		30	82	0	0	0	1	0	30	82				
GFOD2	81577	broad.mit.edu	37	16	67719373	67719373	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67719373G>A	ENST00000268797.7	-	2	591	c.246C>T	c.(244-246)tcC>tcT	p.S82S	GFOD2_ENST00000602377.1_Intron	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	82					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GAGCCTTCACGGATATCTGCC	0.592																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(244-246)tcC>tcT		glucose-fructose oxidoreductase domain containing 2							71.0	64.0	66.0					16																	67719373		2198	4300	6498	SO:0001819	synonymous_variant	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67719373G>A	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.246C>T	16.37:g.67719373G>A						GFOD2_ENST00000602377.1_Intron	p.S82S	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	2	591	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	82					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	c.246C>T	CCDS10845.1																																																																																				0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		8	8	0	0	0	1	0	8	8				
ZNF830	91603	broad.mit.edu	37	17	33289429	33289429	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33289429A>T	ENST00000361952.3	+	1	881	c.844A>T	c.(844-846)Agg>Tgg	p.R282W	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	282					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAAAGCCATGAGGCAGGTCAA	0.483																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(844-846)Agg>Tgg		zinc finger protein 830							113.0	97.0	103.0					17																	33289429		2203	4300	6503	SO:0001583	missense	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289429A>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.844A>T	17.37:g.33289429A>T	ENSP00000354518:p.Arg282Trp						p.R282W	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	881	+		Ovarian(249;0.17)	282					Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	c.844A>T	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913480	0.72983	.	.	ENSG00000198783	ENST00000361952	T	0.15487	2.42	6.08	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.73598	2.24	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.12293	-1.0553	10	0.87932	D	0	-21.9137	10.2954	0.43620	0.6811:0.3189:0.0:0.0	.	282	Q96NB3	ZN830_HUMAN	W	282	ENSP00000354518:R282W	ENSP00000354518:R282W	R	+	1	2	ZNF830	30313542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.134000	0.42102	0.473000	0.27368	0.533000	0.62120	AGG		0.483	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		20	25	0	0	0	1	0	20	25				
FBLN1	2192	broad.mit.edu	37	22	45944611	45944611	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45944611C>T	ENST00000327858.6	+	13	1655	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	FBLN1_ENST00000340923.5_Silent_p.G520G|FBLN1_ENST00000442170.2_Silent_p.G520G|FBLN1_ENST00000348697.2_Silent_p.G520G|FBLN1_ENST00000402984.3_Silent_p.G558G|FBLN1_ENST00000262722.7_Silent_p.G520G|FBLN1_ENST00000476366.1_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	520	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCCCAATGGCCGCAACTGCC	0.672																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1558-1560)ggC>ggT		fibulin 1							54.0	42.0	46.0					22																	45944611		2203	4300	6503	SO:0001819	synonymous_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944611C>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1560C>T	22.37:g.45944611C>T						FBLN1_ENST00000402984.3_Silent_p.G558G|FBLN1_ENST00000327858.6_Silent_p.G520G|FBLN1_ENST00000262722.7_Silent_p.G520G|FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000340923.5_Silent_p.G520G|FBLN1_ENST00000442170.2_Silent_p.G520G	p.G520G			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1707	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	520			EGF-like 8; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	c.1560C>T	CCDS14067.1																																																																																				0.672	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		5	12	0	0	0	1	0	5	12				
LAMP1	3916	broad.mit.edu	37	13	113976601	113976601	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113976601G>T	ENST00000332556.4	+	9	1313	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	LAMP1_ENST00000397181.3_Missense_Mutation_p.E320D|LAMP1_ENST00000471046.1_3'UTR	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	373	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGGCAGTGGAGGAGTGTCTGC	0.627																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(1117-1119)gaG>gaT		lysosomal-associated membrane protein 1							75.0	89.0	85.0					13																	113976601		2132	4243	6375	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113976601G>T	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1119G>T	13.37:g.113976601G>T	ENSP00000333298:p.Glu373Asp					LAMP1_ENST00000471046.1_3'UTR|LAMP1_ENST00000397181.3_Missense_Mutation_p.E320D	p.E373D	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		9	1313	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	373			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.1119G>T	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748539	0.69533	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35048	1.33;1.33	5.12	-1.23	0.09465	.	0.155451	0.56097	D	0.000035	T	0.55226	0.1907	M	0.80028	2.48	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.53092	-0.8487	10	0.33940	T	0.23	-41.3934	11.6855	0.51483	0.7797:0.0:0.2203:0.0	.	320;373	B4DWL3;P11279	.;LAMP1_HUMAN	D	373;320	ENSP00000333298:E373D;ENSP00000415354:E320D	ENSP00000333298:E373D	E	+	3	2	LAMP1	113024602	1.000000	0.71417	0.988000	0.46212	0.890000	0.51754	0.953000	0.29162	-0.365000	0.08076	0.313000	0.20887	GAG		0.627	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			18	26	1	0	5.35267e-07	1	5.59292e-07	18	26				
LIPC	3990	broad.mit.edu	37	15	58834094	58834094	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58834094C>T	ENST00000356113.6	+	5	999	c.384C>T	c.(382-384)gaC>gaT	p.D128D	LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Silent_p.D128D|LIPC_ENST00000414170.3_Silent_p.D128D			P11150	LIPC_HUMAN	lipase, hepatic	128					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGGCCCACGACCACTACACCA	0.642																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(382-384)gaC>gaT		lipase, hepatic							54.0	47.0	49.0					15																	58834094		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834094C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.384C>T	15.37:g.58834094C>T						LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Silent_p.D128D|LIPC_ENST00000299022.5_Silent_p.D128D	p.D128D			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	4	671	+		Colorectal(260;0.215)	128					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.384C>T	CCDS10166.1																																																																																				0.642	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			7	18	0	0	0	1	0	7	18				
PAX3	5077	broad.mit.edu	37	2	223159003	223159003	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223159003T>C	ENST00000350526.4	-	4	605	c.469A>G	c.(469-471)Atc>Gtc	p.I157V	PAX3_ENST00000409828.3_Missense_Mutation_p.I157V|PAX3_ENST00000336840.6_Missense_Mutation_p.I157V|PAX3_ENST00000392070.2_Missense_Mutation_p.I157V|PAX3_ENST00000409551.3_Missense_Mutation_p.I156V|PAX3_ENST00000258387.5_Missense_Mutation_p.I157V|PAX3_ENST00000344493.4_Missense_Mutation_p.I157V|PAX3_ENST00000392069.2_Missense_Mutation_p.I157V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	157	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTCAGGATGCGGCTGATG	0.597			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(469-471)Atc>Gtc		paired box 3							108.0	82.0	91.0					2																	223159003		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223159003T>C		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.469A>G	2.37:g.223159003T>C	ENSP00000343052:p.Ile157Val					PAX3_ENST00000258387.5_Missense_Mutation_p.I157V|PAX3_ENST00000409828.3_Missense_Mutation_p.I157V|PAX3_ENST00000409551.3_Missense_Mutation_p.I156V|PAX3_ENST00000392070.2_Missense_Mutation_p.I157V|PAX3_ENST00000336840.6_Missense_Mutation_p.I157V|PAX3_ENST00000392069.2_Missense_Mutation_p.I157V|PAX3_ENST00000344493.4_Missense_Mutation_p.I157V	p.I157V	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	605	-		Renal(207;0.0183)	157			Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.469A>G	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	T	6.710	0.499704	0.12762	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99376	-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79;-5.79	5.11	5.11	0.69529	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.141423	0.64402	D	0.000006	D	0.97005	0.9022	N	0.25060	0.705	0.52501	D	0.999951	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.17098	0.017;0.001;0.002;0.003;0.001;0.003;0.003	D	0.95982	0.8978	10	0.25106	T	0.35	.	14.5791	0.68274	0.0:0.0:0.0:1.0	.	157;157;157;156;157;157;157	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	V	157;157;157;157;157;156;157;157	ENSP00000375921:I157V;ENSP00000342092:I157V;ENSP00000343052:I157V;ENSP00000375922:I157V;ENSP00000338767:I157V;ENSP00000386750:I156V;ENSP00000386817:I157V;ENSP00000258387:I157V	ENSP00000258387:I157V	I	-	1	0	PAX3	222867247	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.526000	0.53509	1.924000	0.55735	0.454000	0.30748	ATC		0.597	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			5	30	0	0	0	1	0	5	30				
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	C	T	rs377690361		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3424-3426)agC>agT		ring finger protein 123		C		2,4404	4.2+/-10.8	0,2,2201	247.0	249.0	248.0		3426	-5.3	0.8	3		248	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1142/1315	49753836	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753836C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3426C>T	3.37:g.49753836C>T						RNF123_ENST00000433785.1_Silent_p.S254S	p.S1142S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	35	3570	+			1142					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3426C>T	CCDS33758.1																																																																																				0.632	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		81	103	0	0	0	1	0	81	103				
OSBPL5	114879	broad.mit.edu	37	11	3140843	3140843	+	Missense_Mutation	SNP	C	C	T	rs539611416		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3140843C>T	ENST00000263650.7	-	7	784	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	OSBPL5_ENST00000348039.5_Missense_Mutation_p.V141M|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Missense_Mutation_p.V141M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V120M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATGGAGCCCACGCTCTCACCT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.0					ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(625-627)Gtg>Atg		oxysterol binding protein-like 5							84.0	78.0	80.0					11																	3140843		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3140843C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.625G>A	11.37:g.3140843C>T	ENSP00000263650:p.Val209Met					OSBPL5_ENST00000348039.5_Missense_Mutation_p.V141M|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V120M|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Missense_Mutation_p.V141M	p.V209M	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	784	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	209			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.625G>A	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258254	0.80246	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.35789	1.32;1.29;2.64;1.29	4.33	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000010	T	0.39989	0.1099	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.52463	0.953;0.555;0.953;0.865	B;B;B;P	0.47626	0.372;0.25;0.372;0.552	T	0.23619	-1.0183	10	0.35671	T	0.21	-10.1419	17.0269	0.86450	0.0:1.0:0.0:0.0	.	120;170;141;209	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	M	209;141;120;141	ENSP00000263650:V209M;ENSP00000374639:V141M;ENSP00000433342:V120M;ENSP00000302872:V141M	ENSP00000263650:V209M	V	-	1	0	OSBPL5	3097419	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.073000	0.76784	2.256000	0.74724	0.561000	0.74099	GTG		0.627	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			15	28	0	0	0	1	0	15	28				
TTC7B	145567	broad.mit.edu	37	14	91044611	91044611	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91044611C>T	ENST00000328459.6	-	19	2270	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	TTC7B_ENST00000357056.2_Missense_Mutation_p.A734T|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	717										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGGGTACAGGCTGTGGCTTCT	0.597																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2200-2202)Gcc>Acc		tetratricopeptide repeat domain 7B							111.0	96.0	102.0					14																	91044611		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91044611C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2149G>A	14.37:g.91044611C>T	ENSP00000336127:p.Ala717Thr					TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.A717T	p.A734T			Q86TV6	TTC7B_HUMAN			20	2321	-		Melanoma(154;0.222)	717					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2200G>A	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422716|4.422716	0.83559|0.83559	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972|ENST00000557292	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76147|0.76147	0.3947|0.3947	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	P;D|.	0.67145|.	0.856;0.996|.	B;D|.	0.73708|.	0.396;0.981|.	T|T	0.75110|0.75110	-0.3433|-0.3433	10|5	0.09084|.	T|.	0.74|.	-14.4977|-14.4977	19.1392|19.1392	0.93441|0.93441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	717;734|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	T|N	615;734;717;204|144	ENSP00000349564:A734T;ENSP00000336127:A717T;ENSP00000451440:A204T|.	ENSP00000336127:A717T|.	A|S	-|-	1|2	0|0	TTC7B|TTC7B	90114364|90114364	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.988000|0.988000	0.76386|0.76386	7.751000|7.751000	0.85126|0.85126	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.597	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			6	20	0	0	0	1	0	6	20				
CROCCP2	84809	broad.mit.edu	37	1	16945454	16945454	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16945454G>A	ENST00000412962.1	-	0	2065				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCTACGACGGCAGGCCTACC	0.642																																						ENST00000412962.1																			0																																																			0							g.chr1:16945454G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945454G>A														0	2065	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		9	63	0	0	0	1	0	9	63				
LRP6	4040	broad.mit.edu	37	12	12397436	12397436	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12397436A>G	ENST00000261349.4	-	2	285	c.209T>C	c.(208-210)gTc>gCc	p.V70A	LRP6_ENST00000543091.1_Missense_Mutation_p.V70A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	70	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTCTTCGCTGACATCACTCCA	0.443																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(208-210)gTc>gCc		low density lipoprotein receptor-related protein 6							119.0	98.0	105.0					12																	12397436		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397436A>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.209T>C	12.37:g.12397436A>G	ENSP00000261349:p.Val70Ala					LRP6_ENST00000543091.1_Missense_Mutation_p.V70A	p.V70A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	285	-		Prostate(47;0.0865)	70			Beta-propeller 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.209T>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180837	0.57800	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91011	-2.77;-2.77	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.47093	U	0.000260	D	0.94709	0.8293	M	0.83603	2.65	0.80722	D	1	D;D	0.64830	0.983;0.994	D;D	0.67548	0.936;0.952	D	0.93612	0.6940	10	0.25106	T	0.35	.	14.9552	0.71107	1.0:0.0:0.0:0.0	.	70;70	F5H7J9;O75581	.;LRP6_HUMAN	A	70	ENSP00000261349:V70A;ENSP00000442472:V70A	ENSP00000261349:V70A	V	-	2	0	LRP6	12288703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.123000	0.65237	0.377000	0.23210	GTC		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			24	27	0	0	0	1	0	24	27				
ZNF37A	7587	broad.mit.edu	37	10	38406981	38406981	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:38406981G>A	ENST00000361085.5	+	7	1247	c.902G>A	c.(901-903)tGt>tAt	p.C301Y	ZNF37A_ENST00000351773.3_Missense_Mutation_p.C301Y	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CCCTATGAATGTCATGAATGT	0.408																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(901-903)tGt>tAt		zinc finger protein 37A							68.0	71.0	70.0					10																	38406981		2203	4299	6502	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406981G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.902G>A	10.37:g.38406981G>A	ENSP00000354377:p.Cys301Tyr					ZNF37A_ENST00000361085.4_Missense_Mutation_p.C301Y	p.C301Y	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1732	+			301					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.902G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080503	0.36662	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	D;D	0.85088	-1.94;-1.94	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94453	0.8215	H	0.98111	4.15	0.41335	D	0.987264	D	0.89917	1.0	D	0.97110	1.0	D	0.94684	0.7868	9	0.87932	D	0	.	10.3666	0.44028	0.0:0.0:1.0:0.0	.	301	P17032	ZN37A_HUMAN	Y	301	ENSP00000329141:C301Y;ENSP00000354377:C301Y	ENSP00000329141:C301Y	C	+	2	0	ZNF37A	38446987	1.000000	0.71417	0.888000	0.34837	0.239000	0.25481	7.358000	0.79466	1.313000	0.45069	0.591000	0.81541	TGT		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		41	58	0	0	0	1	0	41	58				
GUSBP3	653188	broad.mit.edu	37	5	68902961	68902961	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68902961G>T	ENST00000510264.2	+	0	36																											GACGGACAGAGCATTTGTTCT	0.393																																						ENST00000510264.2																			0																																																			0							g.chr5:68902961G>T																													5.37:g.68902961G>T														0	36	+									RNA	SNP	ENST00000510264.2	37																																																																																						0.393	RP11-848G14.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000379152.1			11	107	1	0	5.35356e-11	1	5.74024e-11	11	107				
SOBP	55084	broad.mit.edu	37	6	107854672	107854672	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:107854672T>G	ENST00000317357.5	+	4	1090	c.431T>G	c.(430-432)gTg>gGg	p.V144G		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAAGATGATGTGTCAAATGTA	0.418																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(430-432)gTg>gGg		sine oculis binding protein homolog (Drosophila)							82.0	85.0	84.0					6																	107854672		1884	4106	5990	SO:0001583	missense	55084						metal ion binding	g.chr6:107854672T>G	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.431T>G	6.37:g.107854672T>G	ENSP00000318900:p.Val144Gly						p.V144G	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1090	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	144						Missense_Mutation	SNP	ENST00000317357.5	37	c.431T>G	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971580	0.74246	.	.	ENSG00000112320	ENST00000317357	T	0.16743	2.32	5.46	5.46	0.80206	.	0.073240	0.53938	D	0.000050	T	0.06462	0.0166	N	0.24115	0.695	0.80722	D	1	P	0.46859	0.885	B	0.39805	0.31	T	0.24440	-1.0160	10	0.34782	T	0.22	-11.8123	15.5149	0.75815	0.0:0.0:0.0:1.0	.	144	A7XYQ1	SOBP_HUMAN	G	144	ENSP00000318900:V144G	ENSP00000318900:V144G	V	+	2	0	SOBP	107961365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.020000	0.49643	2.068000	0.61886	0.383000	0.25322	GTG		0.418	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		24	42	0	0	0	1	0	24	42				
TIAF1	9220	broad.mit.edu	37	17	27400976	27400976	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27400976G>A	ENST00000359450.6	-	1	4899	c.242C>T	c.(241-243)cCa>cTa	p.P81L	MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P81L|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	81					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TAGTTGGAATGGGTTTACCTT	0.537																																						ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(241-243)cCa>cTa		TGFB1-induced anti-apoptotic factor 1							154.0	126.0	136.0					17																	27400976		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27400976G>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.242C>T	17.37:g.27400976G>A	ENSP00000352424:p.Pro81Leu					TIAF1_ENST00000408971.2_Missense_Mutation_p.P81L|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR	p.P81L	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4899	-	Lung NSC(42;0.015)		81					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.242C>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699318	0.30142	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	4.98	1.89	0.25635	.	.	.	.	.	T	0.22437	0.0541	N	0.08118	0	0.31339	N	0.683913	B	0.24576	0.106	B	0.26770	0.073	T	0.20840	-1.0263	8	0.87932	D	0	.	6.5403	0.22377	0.3051:0.0:0.6949:0.0	.	81	O95411	TIAF1_HUMAN	L	81	.	ENSP00000386130:P81L	P	-	2	0	TIAF1	24425102	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.847000	0.27696	0.379000	0.24794	0.655000	0.94253	CCA		0.537	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		33	56	0	0	0	1	0	33	56				
EPHA1	2041	broad.mit.edu	37	7	143096356	143096356	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096356C>T	ENST00000275815.3	-	5	1072	c.986G>A	c.(985-987)tGc>tAc	p.C329Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	329	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACCTGTGCATGCCACCTG	0.617																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(985-987)tGc>tAc		EPH receptor A1							40.0	48.0	45.0					7																	143096356		2202	4299	6501	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096356C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.986G>A	7.37:g.143096356C>T	ENSP00000275815:p.Cys329Tyr						p.C329Y	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			5	1072	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	329			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.986G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742601	0.89573	.	.	ENSG00000146904	ENST00000275815	D	0.96265	-3.96	5.2	5.2	0.72013	Growth factor, receptor (1);	0.088409	0.50627	D	0.000117	D	0.98670	0.9554	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99509	1.0955	10	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	329	P21709	EPHA1_HUMAN	Y	329	ENSP00000275815:C329Y	ENSP00000275815:C329Y	C	-	2	0	EPHA1	142806478	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.084000	0.76866	2.698000	0.92095	0.650000	0.86243	TGC		0.617	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			15	25	0	0	0	1	0	15	25				
RPN2	6185	broad.mit.edu	37	20	35833290	35833290	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35833290C>T	ENST00000237530.6	+	6	987	c.676C>T	c.(676-678)Cca>Tca	p.P226S	RPN2_ENST00000373622.5_Missense_Mutation_p.P194S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	226					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GGGGACTGAGCCATCCATTAA	0.468																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(676-678)Cca>Tca		ribophorin II							91.0	84.0	86.0					20																	35833290		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35833290C>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.676C>T	20.37:g.35833290C>T	ENSP00000237530:p.Pro226Ser					RPN2_ENST00000373622.5_Missense_Mutation_p.P194S	p.P226S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			6	987	+		Myeloproliferative disorder(115;0.00878)	226					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.676C>T	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554048	0.86231	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.998	T	0.52689	-0.8542	10	0.25106	T	0.35	-10.4369	16.6999	0.85346	0.0:1.0:0.0:0.0	.	101;194;226;226	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	S	69;226;194;242;242	ENSP00000399137:P69S;ENSP00000237530:P226S;ENSP00000362724:P194S;ENSP00000362735:P242S	ENSP00000237530:P226S	P	+	1	0	RPN2	35266704	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.047000	0.76599	2.809000	0.96659	0.557000	0.71058	CCA		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	55	0	0	0	1	0	6	55				
RALGAPA1	253959	broad.mit.edu	37	14	36104725	36104725	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36104725G>T	ENST00000389698.3	-	31	4628	c.4238C>A	c.(4237-4239)gCt>gAt	p.A1413D	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.A1460D|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1426D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1413D	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1413	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTCCCGTAGCATGAAATGG	0.363																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4378-4380)gCt>gAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							50.0	46.0	48.0					14																	36104725		2203	4297	6500	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36104725G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4238C>A	14.37:g.36104725G>T	ENSP00000374348:p.Ala1413Asp					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1426D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1413D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1413D	p.A1460D			Q6GYQ0	RGPA1_HUMAN			32	4769	-			1413			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4379C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083685	0.36758	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.41	3.56	0.40772	.	0.673047	0.15925	N	0.237947	T	0.18718	0.0449	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.25850	0.026;0.021;0.002;0.136	B;B;B;B	0.22880	0.029;0.04;0.008;0.042	T	0.12682	-1.0538	10	0.30078	T	0.28	-4.4742	6.6724	0.23076	0.1481:0.0:0.7072:0.1446	.	1460;1426;1413;1413	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	D	1413;1413;1413;1460;51;1426;1460	ENSP00000374348:A1413D;ENSP00000302647:A1413D;ENSP00000258840:A1460D;ENSP00000451133:A51D;ENSP00000371803:A1426D;ENSP00000451877:A1460D	ENSP00000258840:A1460D	A	-	2	0	RALGAPA1	35174476	0.993000	0.37304	0.622000	0.29159	0.973000	0.67179	3.758000	0.55220	1.407000	0.46875	0.563000	0.77884	GCT		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	31	1	0	0.00024832	1	0.000253518	4	31				
CRHBP	1393	broad.mit.edu	37	5	76259283	76259283	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:76259283C>T	ENST00000274368.4	+	6	1231	c.809C>T	c.(808-810)cCg>cTg	p.P270L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	270					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTCATGGCCCGGGTGAGGTA	0.448																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(808-810)cCg>cTg		corticotropin releasing hormone binding protein							162.0	163.0	162.0					5																	76259283		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259283C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.809C>T	5.37:g.76259283C>T	ENSP00000274368:p.Pro270Leu					CRHBP_ENST00000514258.1_3'UTR	p.P270L	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1231	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	270					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.809C>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130764	0.56828	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.281327	0.41396	D	0.000881	T	0.58850	0.2151	L	0.49350	1.555	0.80722	D	1	B	0.31193	0.312	B	0.24155	0.051	T	0.58572	-0.7613	9	0.51188	T	0.08	-0.4274	19.7713	0.96366	0.0:1.0:0.0:0.0	.	270	P24387	CRHBP_HUMAN	L	270	.	ENSP00000274368:P270L	P	+	2	0	CRHBP	76295039	0.952000	0.32445	0.982000	0.44146	0.370000	0.29829	4.012000	0.57131	2.662000	0.90505	0.643000	0.83706	CCG		0.448	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		55	87	0	0	0	1	0	55	87				
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													C|||	7	0.00139776	0.0	0.0043	5008	,	,		19508	0.0		0.004	False		,,,				2504	0.0					ENST00000295522.3																			0				lung(9)	9						c.(370-372)Gcg>Acg		claudin 1		C	THR/ALA	3,4403		0,3,2200	218.0	179.0	192.0		370	2.8	0.5	3	dbSNP_134	192	17,8583	5.0+/-18.6	0,17,4283	yes	missense	CLDN1	NM_021101.4	58	0,20,6483	TT,TC,CC		0.1977,0.0681,0.1538	benign	124/212	190030679	20,12986	2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190030679C>T	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.370G>A	3.37:g.190030679C>T	ENSP00000295522:p.Ala124Thr						p.A124T	NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	2	638	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		124						Missense_Mutation	SNP	ENST00000295522.3	37	c.370G>A	CCDS3295.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	16.00	2.999096	0.54147	6.81E-4	0.001977	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.89050	-2.46	6.04	2.79	0.32731	.	0.336788	0.35124	N	0.003435	T	0.79257	0.4415	N	0.25332	0.735	0.19575	N	0.999961	P	0.36183	0.542	B	0.42462	0.388	T	0.74219	-0.3736	10	0.72032	D	0.01	.	9.4241	0.38570	0.0:0.7291:0.0:0.2709	.	124	O95832	CLD1_HUMAN	T	124;79	ENSP00000295522:A124T	ENSP00000295522:A124T	A	-	1	0	CLDN1	191513373	0.000000	0.05858	0.453000	0.27007	0.753000	0.42808	0.332000	0.19751	0.637000	0.30526	0.561000	0.74099	GCG		0.458	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		28	59	0	0	0	1	0	28	59				
C10orf71	118461	broad.mit.edu	37	10	50532618	50532618	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50532618G>A	ENST00000374144.3	+	3	2316	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	C10orf71_ENST00000323868.4_Silent_p.V676V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	676										endometrium(1)	1						CCAGATCTGTGTCCCAAGAGA	0.522																																						ENST00000374144.3																			0				endometrium(1)	1						c.(2026-2028)gtG>gtA		chromosome 10 open reading frame 71							41.0	44.0	43.0					10																	50532618		1877	4103	5980	SO:0001819	synonymous_variant	118461							g.chr10:50532618G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2028G>A	10.37:g.50532618G>A						C10orf71_ENST00000323868.4_Silent_p.V676V	p.V676V			Q711Q0	CJ071_HUMAN			3	2316	+			676					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.2028G>A	CCDS44387.1																																																																																				0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		16	24	0	0	0	1	0	16	24				
CYP2A7	1549	broad.mit.edu	37	19	41386435	41386435	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41386435G>A	ENST00000301146.4	-	3	983	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R97C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	148						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTGGATGCGCTCCTCGATG	0.662																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(442-444)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 7							46.0	42.0	43.0					19																	41386435		2202	4300	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386435G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.442C>T	19.37:g.41386435G>A	ENSP00000301146:p.Arg148Cys					CYP2A7_ENST00000291764.3_Missense_Mutation_p.R97C|CTC-490E21.12_ENST00000601627.1_Intron	p.R148C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	983	-			148					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.442C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	g	14.61	2.588256	0.46110	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69926	-0.44;-0.44	2.2	2.2	0.27929	.	0.066533	0.64402	U	0.000010	T	0.72260	0.3438	L	0.50993	1.605	0.35200	D	0.774183	D;D;D	0.76494	0.999;0.994;0.979	P;P;P	0.62491	0.903;0.811;0.652	T	0.80233	-0.1467	10	0.72032	D	0.01	.	11.4542	0.50171	0.0:0.0:1.0:0.0	.	148;97;148	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	148;97	ENSP00000301146:R148C;ENSP00000291764:R97C	ENSP00000291764:R97C	R	-	1	0	CYP2A7	46078275	0.873000	0.30073	0.116000	0.21606	0.027000	0.11550	1.974000	0.40559	1.216000	0.43427	0.187000	0.17357	CGC		0.662	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		9	24	0	0	0	1	0	9	24				
ACTN2	88	broad.mit.edu	37	1	236902770	236902770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236902770C>T	ENST00000366578.4	+	10	1211	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q349*|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	349					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAACACGCTGCAGACCAAGCT	0.602																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1045-1047)Cag>Tag		actinin, alpha 2							137.0	108.0	118.0					1																	236902770		2203	4300	6503	SO:0001587	stop_gained	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236902770C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1045C>T	1.37:g.236902770C>T	ENSP00000355537:p.Gln349*					ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q349*	p.Q349*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		10	1211	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	349					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	c.1045C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	40	8.368927	0.98781	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	.	.	.	5.51	5.51	0.81932	.	0.105350	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4071	0.94651	0.0:1.0:0.0:0.0	.	.	.	.	X	349;349;118	.	ENSP00000355537:Q349X	Q	+	1	0	ACTN2	234969393	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.780000	0.85658	2.585000	0.87301	0.555000	0.69702	CAG		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		20	21	0	0	0	1	0	20	21				
CD226	10666	broad.mit.edu	37	18	67562982	67562982	+	Missense_Mutation	SNP	C	C	T	rs146723371	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:67562982C>T	ENST00000280200.4	-	4	950	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	228	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.A228T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTTTCTCCTGCGCTGGCCTGC	0.542													C|||	4	0.000798722	0.003	0.0	5008	,	,		18442	0.0		0.0	False		,,,				2504	0.0				NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			1	Substitution - Missense(1)	p.A228T(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(682-684)Gca>Aca		CD226 molecule		C	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	133.0	134.0	134.0		682	-0.9	0.0	18	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CD226	NM_006566.2	58	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	228/337	67562982	5,13001	2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562982C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.682G>A	18.37:g.67562982C>T	ENSP00000280200:p.Ala228Thr					CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T	p.A228T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	950	-		Esophageal squamous(42;0.129)	228			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.682G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565719	0.03910	9.08E-4	1.16E-4	ENSG00000150637	ENST00000280200	T	0.12255	2.7	4.82	-0.932	0.10435	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.434279	0.24513	N	0.037863	T	0.01489	0.0048	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40776	-0.9545	10	0.02654	T	1	.	2.8128	0.05446	0.318:0.183:0.0:0.499	.	228	Q15762	CD226_HUMAN	T	228	ENSP00000280200:A228T	ENSP00000280200:A228T	A	-	1	0	CD226	65713962	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	0.019000	0.13444	-0.166000	0.10890	-0.300000	0.09419	GCA		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		40	67	0	0	0	1	0	40	67				
RRAS2	22800	broad.mit.edu	37	11	14303157	14303157	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14303157C>T	ENST00000256196.4	-	5	831	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	RRAS2_ENST00000545643.1_Missense_Mutation_p.R179Q|RRAS2_ENST00000534746.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96Q|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138Q|RRAS2_ENST00000526063.1_Missense_Mutation_p.R96Q			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	173					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		CCTGATAACCCGGACAAGTTC	0.348																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(535-537)cGg>cAg		related RAS viral (r-ras) oncogene homolog 2							225.0	190.0	201.0					11																	14303157		2199	4294	6493	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14303157C>T	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.518G>A	11.37:g.14303157C>T	ENSP00000256196:p.Arg173Gln					RRAS2_ENST00000526063.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000534746.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000256196.4_Missense_Mutation_p.R173Q|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138Q|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96Q|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96Q|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96Q	p.R179Q	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	5	849	-			173					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.536G>A	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585787	0.96578	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807	T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.67725	0.783;0.953	D	0.88634	0.3171	10	0.87932	D	0	.	18.8082	0.92047	0.0:1.0:0.0:0.0	.	179;173	B7Z5Z2;P62070	.;RRAS2_HUMAN	Q	138;179;96;96;173;96;96;96;154	ENSP00000437547:R138Q;ENSP00000441722:R179Q;ENSP00000403282:R96Q;ENSP00000433230:R96Q;ENSP00000256196:R173Q;ENSP00000437083:R96Q;ENSP00000434104:R96Q;ENSP00000431954:R96Q;ENSP00000435453:R154Q	ENSP00000256196:R173Q	R	-	2	0	RRAS2	14259733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.506000	0.81665	2.525000	0.85131	0.650000	0.86243	CGG		0.348	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		29	49	0	0	0	1	0	29	49				
CEP350	9857	broad.mit.edu	37	1	180061797	180061797	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180061797C>T	ENST00000367607.3	+	34	6975	c.6557C>T	c.(6556-6558)tCt>tTt	p.S2186F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2186					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGTCTTTATCTGCATATGCA	0.358																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6556-6558)tCt>tTt		centrosomal protein 350kDa							63.0	62.0	62.0					1																	180061797		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180061797C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6557C>T	1.37:g.180061797C>T	ENSP00000356579:p.Ser2186Phe					CEP350_ENST00000490141.1_3'UTR	p.S2186F	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	6975	+			2186					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6557C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047646	0.36085	.	.	ENSG00000135837	ENST00000367607	T	0.58940	0.3	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000189	T	0.49795	0.1578	L	0.36672	1.1	0.43347	D	0.995409	B;B	0.14012	0.002;0.009	B;B	0.14023	0.005;0.01	T	0.37056	-0.9722	9	.	.	.	.	18.3863	0.90468	0.0:1.0:0.0:0.0	.	2186;2186	E7EU22;Q5VT06	.;CE350_HUMAN	F	2186	ENSP00000356579:S2186F	.	S	+	2	0	CEP350	178328420	0.912000	0.30974	0.087000	0.20705	0.799000	0.45148	2.534000	0.45676	2.780000	0.95670	0.655000	0.94253	TCT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	16	0	0	0	1	0	9	16				
PCNXL2	80003	broad.mit.edu	37	1	233353643	233353643	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233353643A>G	ENST00000258229.9	-	12	2926		c.e12+1		PCNXL2_ENST00000430153.1_Splice_Site|PCNXL2_ENST00000488780.2_Splice_Site	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGGAAACTTACGTGTATTGG	0.433																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.e12+1		pecanex-like 2 (Drosophila)							74.0	71.0	72.0					1																	233353643		1916	4116	6032	SO:0001630	splice_region_variant	80003					integral to membrane		g.chr1:233353643A>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2691+1T>C	1.37:g.233353643A>G						PCNXL2_ENST00000488780.2_Splice_Site|PCNXL2_ENST00000430153.1_Splice_Site		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			12	2926	-		all_cancers(173;0.0347)|Prostate(94;0.137)						O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Splice_Site	SNP	ENST00000258229.9	37		CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102662	0.76983	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000430153	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8579	0.78994	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCNXL2	231420266	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	8.604000	0.90877	2.191000	0.70037	0.528000	0.53228	.		0.433	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	Intron	8	15	0	0	0	1	0	8	15				
TLX2	3196	broad.mit.edu	37	2	74742863	74742863	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74742863G>A	ENST00000233638.7	+	2	827	c.504G>A	c.(502-504)caG>caA	p.Q168Q		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	168					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CCCGCTCACAGGTGCTGGAGT	0.677																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(502-504)caG>caA		T-cell leukemia homeobox 2							28.0	32.0	31.0					2																	74742863		2203	4300	6503	SO:0001819	synonymous_variant	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742863G>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.504G>A	2.37:g.74742863G>A							p.Q168Q	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	827	+			168					Q9UD56|Q9UQ48	Silent	SNP	ENST00000233638.7	37	c.504G>A	CCDS1947.1																																																																																				0.677	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			12	19	0	0	0	1	0	12	19				
CD164	8763	broad.mit.edu	37	6	109699120	109699120	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:109699120G>A	ENST00000310786.4	-	3	379	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CD164_ENST00000512821.1_Missense_Mutation_p.T105M|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000275080.7_Missense_Mutation_p.T105M|CD164_ENST00000324953.5_Missense_Mutation_p.T105M|CD164_ENST00000413644.2_Missense_Mutation_p.T105M|CD164_ENST00000504373.1_Missense_Mutation_p.T71M|CD164_ENST00000368961.5_Missense_Mutation_p.T105M	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	105	Thr-rich.				cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GAAGTCTGTCGTGTTCCCCAC	0.473																																						ENST00000368961.5																			0				breast(1)|lung(2)	3						c.(313-315)aCg>aTg		CD164 molecule, sialomucin							150.0	137.0	141.0					6																	109699120		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109699120G>A	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.314C>T	6.37:g.109699120G>A	ENSP00000309376:p.Thr105Met					CD164_ENST00000275080.7_Missense_Mutation_p.T105M|CD164_ENST00000324953.5_Missense_Mutation_p.T105M|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000310786.4_Missense_Mutation_p.T105M|CD164_ENST00000512821.1_Missense_Mutation_p.T105M|CD164_ENST00000504373.1_Missense_Mutation_p.T71M|CD164_ENST00000413644.2_Missense_Mutation_p.T105M	p.T105M			Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	3	494	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	105			Thr-rich.		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.314C>T	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051505	0.36181	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	4.83	-1.23	0.09465	.	1.531590	0.03308	N	0.190068	T	0.24392	0.0591	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D	0.62365	0.991;0.99;0.99;0.988;0.986	P;P;P;P;P	0.48982	0.597;0.556;0.556;0.594;0.458	T	0.09378	-1.0677	10	0.41790	T	0.15	10.5357	5.59	0.17295	0.0:0.3109:0.4227:0.2664	.	105;105;105;105;105	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	M	105;105;105;105;105;105;71	ENSP00000402237:T105M;ENSP00000357957:T105M;ENSP00000314177:T105M;ENSP00000309376:T105M;ENSP00000275080:T105M;ENSP00000427546:T105M;ENSP00000422999:T71M	ENSP00000275080:T105M	T	-	2	0	CD164	109805813	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.342000	0.01099	-0.139000	0.11414	-0.302000	0.09304	ACG		0.473	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		27	33	0	0	0	1	0	27	33				
PLEKHM2	23207	broad.mit.edu	37	1	16046306	16046306	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16046306C>T	ENST00000375799.3	+	6	770	c.543C>T	c.(541-543)cgC>cgT	p.R181R	PLEKHM2_ENST00000375793.2_Silent_p.R181R|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	181	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTGAAGACCGCCTTCCCAGCT	0.577																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(541-543)cgC>cgT		pleckstrin homology domain containing, family M (with RUN domain) member 2							98.0	97.0	98.0					1																	16046306		2003	4174	6177	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16046306C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.543C>T	1.37:g.16046306C>T						PLEKHM2_ENST00000375793.2_Silent_p.R181R	p.R181R	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	770	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	181			Interaction with KIF5B.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.543C>T	CCDS44063.1																																																																																				0.577	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		19	35	0	0	0	1	0	19	35				
CILP2	148113	broad.mit.edu	37	19	19656215	19656215	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19656215G>A	ENST00000291495.5	+	8	2946	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	CILP2_ENST00000586018.1_Missense_Mutation_p.R960H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	954						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TATATGGTCCGCTCCCACAAC	0.682																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2878-2880)cGc>cAc		cartilage intermediate layer protein 2							17.0	18.0	18.0					19																	19656215		2201	4298	6499	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656215G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2861G>A	19.37:g.19656215G>A	ENSP00000291495:p.Arg954His					CILP2_ENST00000291495.4_Missense_Mutation_p.R954H	p.R960H			Q8IUL8	CILP2_HUMAN			8	2981	+			954					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2879G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271831	0.59649	.	.	ENSG00000160161	ENST00000291495	T	0.11277	2.79	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.67397	2.05	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.00907	-1.1519	10	0.87932	D	0	-25.9	17.571	0.87934	0.0:0.0:1.0:0.0	.	954;954	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	954	ENSP00000291495:R954H	ENSP00000291495:R954H	R	+	2	0	CILP2	19517215	1.000000	0.71417	0.104000	0.21259	0.008000	0.06430	9.583000	0.98217	2.757000	0.94681	0.555000	0.69702	CGC		0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		7	15	0	0	0	1	0	7	15				
GBP7	388646	broad.mit.edu	37	1	89597932	89597932	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89597932G>A	ENST00000294671.2	-	11	1955	c.1817C>T	c.(1816-1818)gCa>gTa	p.A606V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	606						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGTAGTGCTGCAATAAATAT	0.378																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1816-1818)gCa>gTa		guanylate binding protein 7							94.0	94.0	94.0					1																	89597932		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89597932G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1817C>T	1.37:g.89597932G>A	ENSP00000294671:p.Ala606Val						p.A606V	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	11	1955	-		Lung NSC(277;0.0908)	606						Missense_Mutation	SNP	ENST00000294671.2	37	c.1817C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	3.571	-0.087703	0.07097	.	.	ENSG00000213512	ENST00000294671	T	0.61392	0.11	4.11	-5.37	0.02681	.	1.499430	0.04297	N	0.346596	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.04752	-1.0929	10	0.08837	T	0.75	.	5.7055	0.17905	0.5539:0.0:0.3186:0.1275	.	606	Q8N8V2	GBP7_HUMAN	V	606	ENSP00000294671:A606V	ENSP00000294671:A606V	A	-	2	0	GBP7	89370520	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.328000	0.02680	-0.962000	0.03604	0.462000	0.41574	GCA		0.378	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		23	46	0	0	0	1	0	23	46				
JAKMIP3	282973	broad.mit.edu	37	10	133930934	133930934	+	Silent	SNP	C	C	T	rs369892382		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:133930934C>T	ENST00000298622.4	+	2	627	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	163						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCTCAAGGGCGCCAAAAGGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16932	0.0		0.0	False		,,,				2504	0.001					ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(487-489)ggC>ggT		Janus kinase and microtubule interacting protein 3		C		0,4352		0,0,2176	66.0	79.0	74.0		489	-9.0	0.9	10		74	1,8519		0,1,4259	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6435	TT,TC,CC		0.0117,0.0,0.0078		163/845	133930934	1,12871	2176	4260	6436	SO:0001819	synonymous_variant	282973							g.chr10:133930934C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.489C>T	10.37:g.133930934C>T							p.G163G	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	627	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.489C>T	CCDS44494.1																																																																																				0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	25	0	0	0	1	0	11	25				
MEGF6	1953	broad.mit.edu	37	1	3511909	3511909	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3511909G>A	ENST00000356575.4	-	3	595	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	123	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCCGAGAGGCAGCCCTCCT	0.687																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(367-369)tgC>tgT		multiple EGF-like-domains 6							21.0	28.0	25.0					1																	3511909		1909	4018	5927	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3511909G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.369C>T	1.37:g.3511909G>A							p.C123C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	3	595	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	123			EMI.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.369C>T	CCDS41237.1																																																																																				0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	26	0	0	0	1	0	12	26				
BUB1B	701	broad.mit.edu	37	15	40468811	40468811	+	Missense_Mutation	SNP	C	C	T	rs552380700		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40468811C>T	ENST00000287598.6	+	5	713	c.518C>T	c.(517-519)gCg>gTg	p.A173V	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.A187V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	173	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for interaction with CASC5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAAGCAGATGCGATATTTCAG	0.408			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		15856	0.001		0.0	False		,,,				2504	0.0					ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(517-519)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase B							115.0	115.0	115.0					15																	40468811		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40468811C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.518C>T	15.37:g.40468811C>T	ENSP00000287598:p.Ala173Val					BUB1B_ENST00000412359.3_Missense_Mutation_p.A187V|BUB1B_ENST00000560120.1_3'UTR	p.A173V	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	5	713	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	173			BUB1 N-terminal.|Necessary for interaction with CASC5.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.518C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313950	0.23908	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.64803	1.26;-0.12	5.58	-3.77	0.04346	Mad3/BUB1 homology region 1 (3);	1.192050	0.05633	N	0.582022	T	0.51278	0.1665	L	0.59436	1.845	0.09310	N	1	B;B	0.19200	0.028;0.034	B;B	0.12156	0.004;0.007	T	0.32268	-0.9913	10	0.30854	T	0.27	3.1881	4.1672	0.10312	0.3773:0.31:0.0:0.3127	.	187;173	O60566-3;O60566	.;BUB1B_HUMAN	V	173;187;119	ENSP00000287598:A173V;ENSP00000398470:A187V	ENSP00000287598:A173V	A	+	2	0	BUB1B	38256103	0.000000	0.05858	0.008000	0.14137	0.508000	0.34012	-0.649000	0.05384	-0.575000	0.05982	-0.345000	0.07892	GCG		0.408	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			23	40	0	0	0	1	0	23	40				
CSTF3	1479	broad.mit.edu	37	11	33118431	33118431	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33118431G>A	ENST00000323959.4	-	14	1361	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACATGGTGGCGGGTTCTGGTA	0.358																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1222-1224)Cgc>Tgc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							153.0	143.0	146.0					11																	33118431		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33118431G>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1222C>T	11.37:g.33118431G>A	ENSP00000315791:p.Arg408Cys					TCP11L1_ENST00000324357.9_Intron	p.R408C	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			14	1361	-			408					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1222C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937406	0.92458	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35236	1.32	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.43152	1.355	0.80722	D	1	P	0.47762	0.9	B	0.33750	0.169	T	0.21895	-1.0232	10	0.56958	D	0.05	.	19.7787	0.96409	0.0:0.0:1.0:0.0	.	408	Q12996	CSTF3_HUMAN	C	408;341	ENSP00000315791:R408C	ENSP00000315791:R408C	R	-	1	0	CSTF3	33075007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.656000	0.83736	2.689000	0.91719	0.305000	0.20034	CGC		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		35	38	0	0	0	1	0	35	38				
AKAP12	9590	broad.mit.edu	37	6	151671538	151671538	+	Missense_Mutation	SNP	G	G	A	rs190920353	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151671538G>A	ENST00000253332.1	+	3	2201	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	AKAP12_ENST00000359755.5_Missense_Mutation_p.R566H|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573H|AKAP12_ENST00000402676.2_Missense_Mutation_p.R671H			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	671					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCAAAGCGCAAGGTGGAT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20025	0.001		0.0	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2011-2013)cGc>cAc		A kinase (PRKA) anchor protein 12							85.0	82.0	83.0					6																	151671538		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671538G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2012G>A	6.37:g.151671538G>A	ENSP00000253332:p.Arg671His					AKAP12_ENST00000359755.5_Missense_Mutation_p.R566H|AKAP12_ENST00000253332.1_Missense_Mutation_p.R671H|AKAP12_ENST00000354675.6_Missense_Mutation_p.R573H	p.R671H	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2252	+		Ovarian(120;0.125)	671					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2012G>A	CCDS5229.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	19.18	3.778035	0.70107	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12465	2.68;2.68;2.7;2.7	5.52	4.65	0.58169	.	0.000000	0.40818	N	0.001005	T	0.10380	0.0254	M	0.73962	2.25	0.43304	D	0.995305	D;D;D	0.59767	0.986;0.986;0.975	P;P;B	0.45428	0.48;0.48;0.287	T	0.04650	-1.0936	10	0.41790	T	0.15	.	8.9363	0.35702	0.2216:0.0:0.7784:0.0	.	566;573;671	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	H	671;671;573;566	ENSP00000384537:R671H;ENSP00000253332:R671H;ENSP00000346702:R573H;ENSP00000352794:R566H	ENSP00000253332:R671H	R	+	2	0	AKAP12	151713231	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.981000	0.63819	1.332000	0.45431	0.650000	0.86243	CGC		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	30	0	0	0	1	0	5	30				
GBGT1	26301	broad.mit.edu	37	9	136030608	136030608	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136030608G>A	ENST00000372040.3	-	6	627	c.316C>T	c.(316-318)Cca>Tca	p.P106S	RALGDS_ENST00000542690.1_Missense_Mutation_p.A118V|GBGT1_ENST00000372038.3_Missense_Mutation_p.A118V|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.P106S|GBGT1_ENST00000540636.1_Missense_Mutation_p.P89S	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	106					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGGTTCAGTGGCTGGTAGATG	0.602																																						ENST00000542690.1										T					CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(352-354)gCc>gTc		ral guanine nucleotide dissociation stimulator							101.0	93.0	95.0					9																	136030608		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136030608G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.316C>T	9.37:g.136030608G>A	ENSP00000361110:p.Pro106Ser					GBGT1_ENST00000372043.3_Missense_Mutation_p.P106S|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372040.3_Missense_Mutation_p.P106S|GBGT1_ENST00000540636.1_Missense_Mutation_p.P89S|GBGT1_ENST00000372038.3_Missense_Mutation_p.A118V	p.A118V			Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	6	633	-			0			N-terminal Ras-GEF.		A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.353C>T	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.296|9.296	1.051857|1.051857	0.19827|0.19827	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040;ENST00000540636	T;T|T;T;T	0.37584|0.01192	1.81;1.19|5.2;5.2;5.2	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.303301	.|0.31392	.|N	.|0.007734	T|T	0.03434|0.03434	0.0099|0.0099	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	P|P;P	0.45531|0.46064	0.86|0.872;0.872	B|P;P	0.44044|0.51101	0.439|0.659;0.659	T|T	0.38908|0.38908	-0.9639|-0.9639	9|10	0.87932|0.30854	D|T	0|0.27	-11.6346|-11.6346	12.367|12.367	0.55234|0.55234	0.0:0.0:0.8316:0.1684|0.0:0.0:0.8316:0.1684	.|.	118|89;106	F5H6M6|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	V|S	118|106;106;89	ENSP00000437518:A118V;ENSP00000361108:A118V|ENSP00000361113:P106S;ENSP00000361110:P106S;ENSP00000437663:P89S	ENSP00000361108:A118V|ENSP00000361110:P106S	A|P	-|-	2|1	0|0	GBGT1;RALGDS|GBGT1	135020429|135020429	0.168000|0.168000	0.22989|0.22989	0.715000|0.715000	0.30552|0.30552	0.022000|0.022000	0.10575|0.10575	2.251000|2.251000	0.43187|0.43187	2.294000|2.294000	0.77228|0.77228	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.602	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		8	17	0	0	0	1	0	8	17				
VDR	7421	broad.mit.edu	37	12	48251385	48251385	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48251385G>A	ENST00000395324.2	-	5	632	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	VDR_ENST00000549336.1_Missense_Mutation_p.P122S|VDR_ENST00000535672.1_Missense_Mutation_p.P90S|VDR_ENST00000229022.3_Missense_Mutation_p.P122S|VDR_ENST00000550325.1_Missense_Mutation_p.P172S			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	122	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GACAGCTTGGGCCGCAGACTG	0.582																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(364-366)Ccc>Tcc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						158.0	121.0	133.0					12																	48251385		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48251385G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.364C>T	12.37:g.48251385G>A	ENSP00000378734:p.Pro122Ser					VDR_ENST00000535672.1_Missense_Mutation_p.P90S|VDR_ENST00000395324.2_Missense_Mutation_p.P122S|VDR_ENST00000549336.1_Missense_Mutation_p.P122S|VDR_ENST00000550325.1_Missense_Mutation_p.P172S	p.P122S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	6	645	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	122			Hinge.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.364C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469829	0.84533	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.93811	-3.25;-3.25;-3.25;-3.29;-3.21;-2.81	4.44	4.44	0.53790	Nuclear hormone receptor, ligand-binding (1);	0.114325	0.64402	D	0.000013	D	0.95478	0.8531	L	0.57536	1.79	0.80722	D	1	P;P;D	0.89917	0.786;0.786;1.0	B;P;D	0.91635	0.443;0.546;0.999	D	0.95046	0.8182	10	0.48119	T	0.1	.	14.9439	0.71014	0.0:0.0:1.0:0.0	.	90;122;172	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	S	122;122;122;172;90;122	ENSP00000378734:P122S;ENSP00000229022:P122S;ENSP00000449573:P122S;ENSP00000447173:P172S;ENSP00000442145:P90S;ENSP00000448659:P122S	ENSP00000229022:P122S	P	-	1	0	VDR	46537652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.461000	0.83175	0.491000	0.48974	CCC		0.582	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			18	28	0	0	0	1	0	18	28				
ZKSCAN5	23660	broad.mit.edu	37	7	99129371	99129371	+	Silent	SNP	C	C	T	rs372286821		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99129371C>T	ENST00000394170.2	+	7	2270	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	ZKSCAN5_ENST00000326775.5_Silent_p.Y673Y|ZKSCAN5_ENST00000451158.1_Silent_p.Y673Y	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTTTTCAGTACGTTAGCCTAA	0.458																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(2017-2019)taC>taT		zinc finger with KRAB and SCAN domains 5		C	,	0,4406		0,0,2203	135.0	123.0	127.0		2019,2019	-6.6	0.6	7		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZKSCAN5	NM_014569.3,NM_145102.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	673/840,673/840	99129371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129371C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2019C>T	7.37:g.99129371C>T						ZKSCAN5_ENST00000326775.5_Silent_p.Y673Y|ZKSCAN5_ENST00000451158.1_Silent_p.Y673Y	p.Y673Y	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			7	2270	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		673					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.2019C>T	CCDS5667.1																																																																																				0.458	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		7	101	0	0	0	1	0	7	101				
OLFML2A	169611	broad.mit.edu	37	9	127561615	127561615	+	Missense_Mutation	SNP	C	C	T	rs533587628	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127561615C>T	ENST00000373580.3	+	4	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	OLFML2A_ENST00000288815.5_5'Flank	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	172					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGACAGCGTGCGCCACCTCAG	0.597													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17727	0.001		0.0	False		,,,				2504	0.0					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(514-516)Cgc>Tgc		olfactomedin-like 2A							45.0	51.0	49.0					9																	127561615		2157	4275	6432	SO:0001583	missense	169611							g.chr9:127561615C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.514C>T	9.37:g.127561615C>T	ENSP00000362682:p.Arg172Cys						p.R172C	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			4	514	+			172					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.514C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413372	0.62511	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.47177	0.85;0.85	5.67	3.76	0.43208	.	0.489979	0.22803	N	0.055449	T	0.51075	0.1653	L	0.44542	1.39	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.55785	0.784;0.517	T	0.51395	-0.8711	10	0.62326	D	0.03	.	10.8651	0.46851	0.1204:0.661:0.2186:0.0	.	136;172	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	C	136;136;172	ENSP00000336425:R136C;ENSP00000362682:R172C	ENSP00000336425:R136C	R	+	1	0	OLFML2A	126601436	0.683000	0.27633	1.000000	0.80357	0.691000	0.40173	1.032000	0.30178	2.681000	0.91329	0.655000	0.94253	CGC		0.597	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		16	18	0	0	0	1	0	16	18				
KRT31	3881	broad.mit.edu	37	17	39552805	39552805	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39552805C>T	ENST00000251645.2	-	3	507	c.455G>A	c.(454-456)cGg>cAg	p.R152Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	152	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CACCAGCTGCCGCAGGGACAG	0.567																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(454-456)cGg>cAg		keratin 31							71.0	61.0	65.0					17																	39552805		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39552805C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.455G>A	17.37:g.39552805C>T	ENSP00000251645:p.Arg152Gln						p.R152Q	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			3	507	-		Breast(137;0.000496)	152			Coil 1B.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.455G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	33	5.210027	0.95069	.	.	ENSG00000094796	ENST00000251645	D	0.91740	-2.9	5.11	5.11	0.69529	Filament (1);	0.000000	0.64402	D	0.000013	D	0.97476	0.9174	H	0.96333	3.805	0.36698	D	0.879938	D	0.89917	1.0	D	0.87578	0.998	D	0.99960	1.1716	10	0.72032	D	0.01	.	17.895	0.88885	0.0:1.0:0.0:0.0	.	152	Q15323	K1H1_HUMAN	Q	152	ENSP00000251645:R152Q	ENSP00000251645:R152Q	R	-	2	0	KRT31	36806331	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	4.923000	0.63412	2.523000	0.85059	0.655000	0.94253	CGG		0.567	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		20	29	0	0	0	1	0	20	29				
ITGA7	3679	broad.mit.edu	37	12	56092305	56092305	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56092305C>A	ENST00000555728.1	-	8	1214	c.1186G>T	c.(1186-1188)Ggg>Tgg	p.G396W	ITGA7_ENST00000394230.2_Missense_Mutation_p.G356W|ITGA7_ENST00000257880.7_Missense_Mutation_p.G396W|ITGA7_ENST00000452168.2_Missense_Mutation_p.G259W|ITGA7_ENST00000553804.1_Missense_Mutation_p.G356W|ITGA7_ENST00000394229.2_Missense_Mutation_p.G352W|ITGA7_ENST00000257879.6_Missense_Mutation_p.G352W|ITGA7_ENST00000347027.6_Missense_Mutation_p.G352W			Q13683	ITA7_HUMAN	integrin, alpha 7	396					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCACCCCCCAGCTCTTCT	0.602																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1186-1188)Ggg>Tgg		integrin, alpha 7							62.0	70.0	67.0					12																	56092305		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092305C>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1186G>T	12.37:g.56092305C>A	ENSP00000452387:p.Gly396Trp					ITGA7_ENST00000555728.1_Missense_Mutation_p.G396W|ITGA7_ENST00000257879.6_Missense_Mutation_p.G352W|ITGA7_ENST00000553804.1_Missense_Mutation_p.G356W|ITGA7_ENST00000452168.2_Missense_Mutation_p.G259W|ITGA7_ENST00000394229.2_Missense_Mutation_p.G352W|ITGA7_ENST00000394230.2_Missense_Mutation_p.G356W|ITGA7_ENST00000347027.6_Missense_Mutation_p.G352W	p.G396W			Q13683	ITA7_HUMAN			8	1405	-			396					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1186G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.555825	0.86231	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.88134	0.6355	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90398	0.4400	10	0.87932	D	0	.	16.0142	0.80425	0.0:1.0:0.0:0.0	.	259;396;356;415	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	356;352;352;259;396;356;352;396;396	ENSP00000452120:G356W;ENSP00000257879:G352W;ENSP00000343009:G352W;ENSP00000393844:G259W;ENSP00000257880:G396W;ENSP00000377777:G356W;ENSP00000377776:G352W;ENSP00000452387:G396W	ENSP00000257879:G352W	G	-	1	0	ITGA7	54378572	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.736000	0.84948	2.456000	0.83038	0.561000	0.74099	GGG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	50	1	0	0.00198382	1	0.0020125	6	50				
BPIFB3	359710	broad.mit.edu	37	20	31652621	31652621	+	Silent	SNP	C	C	T	rs199598368	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31652621C>T	ENST00000375494.3	+	8	894	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	298					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGACCAACGGCGCCCTCGACA	0.617													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18643	0.002		0.0	False		,,,				2504	0.0					ENST00000375494.3																			0											c.(892-894)ggC>ggT		BPI fold containing family B, member 3							63.0	53.0	56.0					20																	31652621		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31652621C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.894C>T	20.37:g.31652621C>T							p.G298G	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			8	894	+			298					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.894C>T	CCDS13212.1																																																																																				0.617	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		5	27	0	0	0	1	0	5	27				
RGL1	23179	broad.mit.edu	37	1	183853014	183853014	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183853014C>T	ENST00000360851.3	+	6	883	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RGL1_ENST00000539189.1_Silent_p.L235L|RGL1_ENST00000304685.4_Silent_p.L270L|RGL1_ENST00000536277.1_Silent_p.L233L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	235	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CAGAAGATCTCGTGGCAGAGC	0.507																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(808-810)ctC>ctT		ral guanine nucleotide dissociation stimulator-like 1							172.0	146.0	155.0					1																	183853014		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183853014C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.705C>T	1.37:g.183853014C>T						RGL1_ENST00000360851.3_Silent_p.L235L|RGL1_ENST00000539189.1_Silent_p.L235L|RGL1_ENST00000536277.1_Silent_p.L233L|RGL1_ENST00000367531.1_Silent_p.L270L	p.L270L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			7	1271	+			235			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.810C>T																																																																																					0.507	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		9	68	0	0	0	1	0	9	68				
NPR2	4882	broad.mit.edu	37	9	35807107	35807107	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35807107C>T	ENST00000342694.2	+	17	2862	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	869	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACATTGTTGGCTTCACAGCAT	0.557																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2605-2607)ggC>ggT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						97.0	84.0	88.0					9																	35807107		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807107C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2607C>T	9.37:g.35807107C>T							p.G869G	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		17	2862	+	all_epithelial(49;0.161)		869			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2607C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	6.454	0.451950	0.12283	.	.	ENSG00000159899	ENST00000421267	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.71728	0.3374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68432	-0.5410	4	.	.	.	.	14.9956	0.71428	0.0:0.8579:0.1421:0.0	.	.	.	.	V	216	.	.	A	+	2	0	NPR2	35797107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.212000	0.32394	2.941000	0.99782	0.655000	0.94253	GCT		0.557	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	27	0	0	0	1	0	21	27				
PLEKHG1	57480	broad.mit.edu	37	6	151130361	151130361	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151130361G>A	ENST00000358517.2	+	8	1244	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D345N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		CTTCCTCTTCGACAAGCTGCT	0.557																																						ENST00000367328.1																			0				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						c.(1033-1035)Gac>Aac		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							109.0	103.0	105.0					6																	151130361		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130361G>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.1033G>A	6.37:g.151130361G>A	ENSP00000351318:p.Asp345Asn					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.D345N	p.D345N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	9	1345	+			345			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1033G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504422	0.96371	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.88896	-2.44;-2.44	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.044180	0.85682	D	0.000000	D	0.94152	0.8124	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.975;1.0;1.0	P;D;D	0.85130	0.708;0.997;0.997	D	0.94402	0.7624	10	0.87932	D	0	.	19.3815	0.94540	0.0:0.0:1.0:0.0	.	152;345;345	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	N	345	ENSP00000356297:D345N;ENSP00000351318:D345N	ENSP00000351318:D345N	D	+	1	0	PLEKHG1	151172054	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	7.732000	0.84908	2.583000	0.87209	0.555000	0.69702	GAC		0.557	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			18	29	0	0	0	1	0	18	29				
CELSR3	1951	broad.mit.edu	37	3	48685381	48685381	+	Missense_Mutation	SNP	C	C	T	rs574354699	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48685381C>T	ENST00000164024.4	-	20	7302	c.7022G>A	c.(7021-7023)cGt>cAt	p.R2341H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2346H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCG	0.632													c|||	2	0.000399361	0.0	0.0	5008	,	,		10884	0.0		0.0	False		,,,				2504	0.002					ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7036-7038)cGt>cAt		cadherin, EGF LAG seven-pass G-type receptor 3							105.0	116.0	112.0					3																	48685381		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685381C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7022G>A	3.37:g.48685381C>T	ENSP00000164024:p.Arg2341His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R2341H	p.R2346H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7317	-			2341					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7037G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.433249	0.25813	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09723	2.95;2.95	4.94	-0.954	0.10359	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.08891	0.0220	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.12156	0.003;0.007	T	0.34030	-0.9845	9	0.35671	T	0.21	.	10.2391	0.43301	0.0:0.6151:0.0:0.3849	.	2341;2411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	2341;2346	ENSP00000164024:R2341H;ENSP00000445694:R2346H	ENSP00000164024:R2341H	R	-	2	0	CELSR3	48660385	0.069000	0.21087	0.073000	0.20177	0.715000	0.41141	0.242000	0.18087	-0.145000	0.11294	-1.355000	0.01225	CGT		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		27	76	0	0	0	1	0	27	76				
RNASEL	6041	broad.mit.edu	37	1	182555596	182555596	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182555596C>T	ENST00000367559.3	-	2	599	c.346G>A	c.(346-348)Gca>Aca	p.A116T	RNASEL_ENST00000539397.1_Missense_Mutation_p.A116T|RNASEL_ENST00000444138.1_Missense_Mutation_p.A116T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	116					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTGACATCTGCTCCTTTAGAA	0.478																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(346-348)Gca>Aca		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							53.0	53.0	53.0					1																	182555596		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555596C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.346G>A	1.37:g.182555596C>T	ENSP00000356530:p.Ala116Thr					RNASEL_ENST00000539397.1_Missense_Mutation_p.A116T|RNASEL_ENST00000444138.1_Missense_Mutation_p.A116T	p.A116T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	599	-			116					Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.346G>A	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128924	0.37533	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.80824	-1.42;-1.42;-1.42	4.56	1.25	0.21368	Ankyrin repeat-containing domain (3);	0.551980	0.16674	N	0.204252	T	0.80623	0.4658	M	0.89658	3.05	0.09310	N	1	B;B;B	0.30741	0.293;0.293;0.293	B;B;B	0.28553	0.091;0.091;0.091	T	0.71461	-0.4586	10	0.49607	T	0.09	-6.886	7.7065	0.28653	0.4789:0.4294:0.0:0.0916	.	116;116;116	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	T	116	ENSP00000356530:A116T;ENSP00000411147:A116T;ENSP00000440844:A116T	ENSP00000356530:A116T	A	-	1	0	RNASEL	180822219	0.006000	0.16342	0.001000	0.08648	0.074000	0.17049	0.513000	0.22770	0.083000	0.17047	0.467000	0.42956	GCA		0.478	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		14	18	0	0	0	1	0	14	18				
DVL2	1856	broad.mit.edu	37	17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	rs144205338		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(493-495)cGc>cAc		dishevelled segment polarity protein 2							47.0	44.0	45.0					17																	7133391		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133391C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.494G>A	17.37:g.7133391C>T	ENSP00000005340:p.Arg165His					DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.R159H	p.R165H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			4	776	-			165					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.494G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495159	0.85069	.	.	ENSG00000004975	ENST00000005340	T	0.04970	3.52	5.32	5.32	0.75619	Dishevelled protein domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.56280	1.765	0.47341	D	0.999391	D;D;D;D	0.89917	1.0;0.977;1.0;1.0	D;P;D;D	0.87578	0.998;0.581;0.997;0.97	T	0.00759	-1.1578	10	0.32370	T	0.25	-14.4293	10.0093	0.41977	0.0:0.9077:0.0:0.0923	.	72;159;165;165	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	H	165	ENSP00000005340:R165H	ENSP00000005340:R165H	R	-	2	0	DVL2	7074115	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.760000	0.68793	2.492000	0.84095	0.609000	0.83330	CGC		0.642	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		17	20	0	0	0	1	0	17	20				
CCDC91	55297	broad.mit.edu	37	12	28458701	28458701	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:28458701G>T	ENST00000545336.1	+	7	648	c.229G>T	c.(229-231)Gca>Tca	p.A77S	CCDC91_ENST00000539107.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381256.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381259.1_Missense_Mutation_p.A77S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A47S|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	77					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TACACATGCAGCAAATAGCAT	0.378																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(229-231)Gca>Tca		coiled-coil domain containing 91							176.0	161.0	166.0					12																	28458701		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458701G>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.229G>T	12.37:g.28458701G>T	ENSP00000438040:p.Ala77Ser					CCDC91_ENST00000381259.1_Missense_Mutation_p.A77S|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.A77S|CCDC91_ENST00000381256.1_Missense_Mutation_p.A77S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A47S	p.A77S			Q7Z6B0	CCD91_HUMAN			7	648	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		77					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.229G>T	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	6.134	0.392965	0.11638	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.34275	1.37;1.4;1.4;1.4;1.4;1.37;1.38	4.66	3.73	0.42828	.	1.196070	0.05936	N	0.636032	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.003;0.006	T	0.22556	-1.0213	10	0.13108	T	0.6	-1.9446	8.1316	0.31031	0.1164:0.0:0.8836:0.0	.	77;47	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	S	77;77;77;77;77;77;77;77;47	ENSP00000440513:A77S;ENSP00000445660:A77S;ENSP00000438040:A77S;ENSP00000442544:A77S;ENSP00000370658:A77S;ENSP00000370655:A77S;ENSP00000305075:A47S	ENSP00000305075:A47S	A	+	1	0	CCDC91	28349968	0.007000	0.16637	0.008000	0.14137	0.006000	0.05464	1.485000	0.35519	1.249000	0.43950	0.591000	0.81541	GCA		0.378	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		38	55	1	0	6.97489e-18	1	7.68957e-18	38	55				
STRN	6801	broad.mit.edu	37	2	37078199	37078199	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37078199G>A	ENST00000263918.4	-	16	2038	c.2030C>T	c.(2029-2031)cCg>cTg	p.P677L	STRN_ENST00000379213.2_Missense_Mutation_p.P628L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	677				P -> S (in Ref. 1; CAA11560). {ECO:0000305}.	dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GATGCTGATCGGAAGAGTAGG	0.303																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(2029-2031)cCg>cTg		striatin, calmodulin binding protein							98.0	96.0	97.0					2																	37078199		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37078199G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2030C>T	2.37:g.37078199G>A	ENSP00000263918:p.Pro677Leu					STRN_ENST00000379213.2_Missense_Mutation_p.P628L	p.P677L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			16	2038	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	677	P -> S (in Ref. 1; CAA11560).				Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.2030C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282685	0.95489	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.28454	1.61;1.61	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.70525	-0.4848	10	0.66056	D	0.02	-10.9208	20.5948	0.99439	0.0:0.0:1.0:0.0	.	628;677	O43815-2;O43815	.;STRN_HUMAN	L	677;652;628	ENSP00000263918:P677L;ENSP00000368513:P628L	ENSP00000263918:P677L	P	-	2	0	STRN	36931703	1.000000	0.71417	0.965000	0.40720	0.983000	0.72400	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	CCG		0.303	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			16	33	0	0	0	1	0	16	33				
CYP2A6	1548	broad.mit.edu	37	19	41354570	41354570	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41354570G>A	ENST00000301141.5	-	3	462	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	148					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCTGGATGCGCTCCTCGATG	0.692																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(442-444)Cgc>Tgc		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						40.0	42.0	42.0					19																	41354570		2203	4299	6502	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354570G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.442C>T	19.37:g.41354570G>A	ENSP00000301141:p.Arg148Cys					CTC-490E21.12_ENST00000601627.1_Intron	p.R148C	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	462	-			148					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.442C>T	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	18.41	3.617654	0.66787	.	.	ENSG00000255974	ENST00000301141	T	0.69926	-0.44	2.95	0.504	0.16946	.	0.066533	0.64402	U	0.000010	T	0.60025	0.2237	L	0.48642	1.525	0.37884	D	0.930477	D	0.54207	0.965	P	0.48677	0.586	T	0.60642	-0.7223	10	0.72032	D	0.01	.	5.946	0.19219	0.1125:0.0:0.7008:0.1866	.	148	P11509	CP2A6_HUMAN	C	148	ENSP00000301141:R148C	ENSP00000301141:R148C	R	-	1	0	CYP2A6	46046410	0.001000	0.12720	0.975000	0.42487	0.346000	0.29079	0.632000	0.24583	-0.016000	0.14127	0.380000	0.24917	CGC		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		6	38	0	0	0	1	0	6	38				
AMZ1	155185	broad.mit.edu	37	7	2752068	2752068	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2752068C>T	ENST00000312371.4	+	7	1421	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.H295Y	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	351							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGACTCGGGCATGTGCTGTG	0.701																																						ENST00000407112.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(883-885)Cat>Tat		archaelysin family metallopeptidase 1							23.0	27.0	26.0					7																	2752068		2203	4298	6501	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752068C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1053C>T	7.37:g.2752068C>T						AMZ1_ENST00000312371.4_Silent_p.G351G|AMZ1_ENST00000489665.1_Intron	p.H295Y			Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1196	+		Ovarian(82;0.0779)	0					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.883C>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	5.340	0.248007	0.10130	.	.	ENSG00000174945	ENST00000407112	T	0.35421	1.31	4.85	1.33	0.21861	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.22330	N	0.999194	B	0.32653	0.379	B	0.31686	0.134	T	0.19353	-1.0308	8	0.02654	T	1	-55.3502	10.0019	0.41933	0.1332:0.2528:0.614:0.0	.	295	B3KRS0	.	Y	295	ENSP00000386020:H295Y	ENSP00000386020:H295Y	H	+	1	0	AMZ1	2718594	0.991000	0.36638	0.603000	0.28903	0.157000	0.22087	0.704000	0.25661	0.443000	0.26582	0.462000	0.41574	CAT		0.701	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		9	11	0	0	0	1	0	9	11				
LRP12	29967	broad.mit.edu	37	8	105503421	105503421	+	Missense_Mutation	SNP	G	G	A	rs190890755		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105503421G>A	ENST00000276654.5	-	7	2168	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.A668V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	687					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCTACTGTCGCTTCTACTGC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18223	0.0		0.0	False		,,,				2504	0.0					ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2059-2061)gCg>gTg		low density lipoprotein receptor-related protein 12							91.0	80.0	84.0					8																	105503421		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503421G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2060C>T	8.37:g.105503421G>A	ENSP00000276654:p.Ala687Val					LRP12_ENST00000424843.2_Missense_Mutation_p.A668V|LRP12_ENST00000518375.1_5'UTR	p.A687V	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2168	-			687					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2060C>T	CCDS6303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.49	3.635488	0.67130	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.86627	-2.15;-2.08	5.49	5.49	0.81192	.	0.046422	0.85682	D	0.000000	D	0.84714	0.5533	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.49561	0.615;0.55	D	0.83881	0.0279	10	0.33940	T	0.23	-20.9411	19.7571	0.96298	0.0:0.0:1.0:0.0	.	668;687	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	V	668;687;52	ENSP00000399148:A668V;ENSP00000276654:A687V	ENSP00000276654:A687V	A	-	2	0	LRP12	105572597	1.000000	0.71417	0.941000	0.38009	0.888000	0.51559	5.989000	0.70587	2.744000	0.94065	0.650000	0.86243	GCG		0.507	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		16	32	0	0	0	1	0	16	32				
PITRM1	10531	broad.mit.edu	37	10	3208440	3208440	+	Silent	SNP	C	C	T	rs375556940		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3208440C>T	ENST00000224949.4	-	4	433	c.399G>A	c.(397-399)acG>acA	p.T133T	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.T133T|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Silent_p.T101T			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	133					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTTCATGAACGTGGAGAGGG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20730	0.0		0.001	False		,,,				2504	0.0					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(397-399)acG>acA		pitrilysin metallopeptidase 1		C	,,	1,3835		0,1,1917	217.0	210.0	212.0		399,303,399	-11.1	0.0	10		212	1,8275		0,1,4137	no	coding-synonymous,coding-synonymous,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	0,2,6054	TT,TC,CC		0.0121,0.0261,0.0165	,,	133/1039,101/940,133/1038	3208440	2,12110	1918	4138	6056	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3208440C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.399G>A	10.37:g.3208440C>T						PITRM1_ENST00000224949.4_Silent_p.T133T|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.T101T	p.T133T	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			4	437	-			101					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.399G>A	CCDS59208.1																																																																																				0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			33	78	0	0	0	1	0	33	78				
ABCC8	6833	broad.mit.edu	37	11	17491740	17491740	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17491740T>C	ENST00000389817.3	-	3	388	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	ABCC8_ENST00000302539.4_Missense_Mutation_p.Y107C			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	107					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGCTGGCATGTACAGGTGCAG	0.537																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(319-321)tAc>tGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						101.0	80.0	87.0					11																	17491740		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17491740T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.320A>G	11.37:g.17491740T>C	ENSP00000374467:p.Tyr107Cys					ABCC8_ENST00000389817.3_Missense_Mutation_p.Y107C	p.Y107C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	3	445	-			107					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.320A>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766480	0.69878	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.96830	-4.14;-4.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	M	0.66939	2.045	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	D	0.97424	1.0011	10	0.62326	D	0.03	.	11.2831	0.49206	0.1361:0.0:0.0:0.8639	.	107;107	B7Z4N0;Q09428	.;ABCC8_HUMAN	C	107;107;121	ENSP00000374467:Y107C;ENSP00000303960:Y107C	ENSP00000303960:Y107C	Y	-	2	0	ABCC8	17448316	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.687000	0.46976	2.223000	0.72356	0.482000	0.46254	TAC		0.537	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		4	25	0	0	0	1	0	4	25				
GP1BA	2811	broad.mit.edu	37	17	4836171	4836171	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4836171C>T	ENST00000329125.5	+	2	347	c.272C>T	c.(271-273)aCg>aTg	p.T91M		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	91					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GTCGATGGGACGCTGCCAGTG	0.597																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(271-273)aCg>aTg		glycoprotein Ib (platelet), alpha polypeptide							70.0	73.0	72.0					17																	4836171		2145	4246	6391	SO:0001583	missense	2811							g.chr17:4836171C>T		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.272C>T	17.37:g.4836171C>T	ENSP00000329380:p.Thr91Met						p.T91M	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	347	+			91					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.272C>T	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	C	6.325	0.428002	0.11987	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.52983	0.64	4.55	-9.1	0.00714	.	3.082520	0.01432	N	0.014798	T	0.21550	0.0519	N	0.16602	0.42	0.09310	N	1	P	0.34639	0.461	B	0.26094	0.066	T	0.18840	-1.0324	10	0.40728	T	0.16	1.2033	1.5667	0.02606	0.3447:0.2107:0.0795:0.3651	.	91	A5CKE2	.	M	91	ENSP00000329380:T91M	ENSP00000329380:T91M	T	+	2	0	GP1BA	4776951	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.624000	0.00109	-2.487000	0.00519	-1.872000	0.00552	ACG		0.597	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			25	16	0	0	0	1	0	25	16				
QRICH2	84074	broad.mit.edu	37	17	74288562	74288562	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74288562C>T	ENST00000262765.5	-	4	1927	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	583	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GACCAAACCACGCTGATGATC	0.537																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1747-1749)cGt>cAt		glutamine rich 2							160.0	142.0	148.0					17																	74288562		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74288562C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1748G>A	17.37:g.74288562C>T	ENSP00000262765:p.Arg583His						p.R583H	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1927	-			583			Gln-rich.		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.1748G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238416	0.22711	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08458	3.09	4.5	-8.52	0.00920	.	.	.	.	.	T	0.04815	0.0130	L	0.40543	1.245	0.09310	N	1	B;B	0.15473	0.013;0.011	B;B	0.09377	0.002;0.004	T	0.40403	-0.9565	9	0.15066	T	0.55	0.2272	5.2482	0.15508	0.1397:0.4114:0.3486:0.1003	.	583;583	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	583	ENSP00000262765:R583H	ENSP00000262765:R583H	R	-	2	0	QRICH2	71800157	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-4.590000	0.00211	-1.818000	0.01218	-2.294000	0.00264	CGT		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		14	62	0	0	0	1	0	14	62				
CD109	135228	broad.mit.edu	37	6	74516566	74516566	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:74516566G>T	ENST00000287097.5	+	25	3072		c.e25-1		CD109_ENST00000437994.2_Splice_Site|CD109_ENST00000422508.2_Splice_Site			Q6YHK3	CD109_HUMAN	CD109 molecule						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTCATAAAGGTTGTCAGCT	0.343																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e25-1		CD109 molecule							37.0	34.0	35.0					6																	74516566		2202	4299	6501	SO:0001630	splice_region_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74516566G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2961-1G>T	6.37:g.74516566G>T						CD109_ENST00000287097.5_Splice_Site|CD109_ENST00000422508.2_Splice_Site		NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			25	3391	+								A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Splice_Site	SNP	ENST00000287097.5	37		CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868923	0.72065	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0111	0.89224	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD109	74573287	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.915000	0.87484	2.561000	0.86390	0.650000	0.86243	.		0.343	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	Intron	12	24	1	0	9.05144e-12	1	9.75833e-12	12	24				
AHNAK2	113146	broad.mit.edu	37	14	105418103	105418103	+	Missense_Mutation	SNP	C	C	T	rs371284486		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105418103C>T	ENST00000333244.5	-	7	3804	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1229						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGCTTCACGTCCACCTGG	0.622													.|||	1	0.000199681	0.0	0.0	5008	,	,		14298	0.001		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3685-3687)Gtg>Atg		AHNAK nucleoprotein 2							78.0	56.0	63.0					14																	105418103		1894	3834	5728	SO:0001583	missense	113146					nucleus		g.chr14:105418103C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3685G>A	14.37:g.105418103C>T	ENSP00000353114:p.Val1229Met					AHNAK2_ENST00000557457.1_Intron	p.V1229M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3804	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1229					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3685G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	10.81	1.454069	0.26161	.	.	ENSG00000185567	ENST00000333244	T	0.01185	5.21	4.55	-3.82	0.04281	.	.	.	.	.	T	0.00695	0.0023	L	0.27053	0.805	0.09310	N	1	P	0.43314	0.803	B	0.32724	0.151	T	0.48055	-0.9068	9	0.30078	T	0.28	.	3.9444	0.09343	0.1054:0.2535:0.1043:0.5369	.	1229	Q8IVF2	AHNK2_HUMAN	M	1229	ENSP00000353114:V1229M	ENSP00000353114:V1229M	V	-	1	0	AHNAK2	104489148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.087000	0.00152	-0.771000	0.04608	-1.367000	0.01198	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		54	9	0	0	0	1	0	54	9				
ZBTB8A	653121	broad.mit.edu	37	1	33058588	33058588	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33058588G>T	ENST00000373510.4	+	3	285	c.56G>T	c.(55-57)aGg>aTg	p.R19M	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R19M	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAGCAGCGCAGGCAAGATGTA	0.428																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(55-57)aGg>aTg		zinc finger and BTB domain containing 8A							69.0	63.0	65.0					1																	33058588		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058588G>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.56G>T	1.37:g.33058588G>T	ENSP00000362609:p.Arg19Met					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R19M|RP1-27O5.3_ENST00000480336.1_3'UTR	p.R19M	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	285	+			19					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.56G>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710479	0.68730	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.68331	-0.32;-0.32	5.32	5.32	0.75619	BTB/POZ (1);BTB/POZ fold (2);	0.119539	0.53938	U	0.000060	T	0.74450	0.3718	L	0.35487	1.065	0.40741	D	0.98283	D;D	0.76494	0.988;0.999	D;D	0.73708	0.961;0.981	T	0.74731	-0.3566	10	0.44086	T	0.13	-14.9683	18.3637	0.90384	0.0:0.0:1.0:0.0	.	19;19	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	M	19	ENSP00000362609:R19M;ENSP00000317561:R19M	ENSP00000317561:R19M	R	+	2	0	ZBTB8A	32831175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.207000	0.51106	2.651000	0.90000	0.585000	0.79938	AGG		0.428	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		23	32	1	0	7.87624e-14	1	8.57347e-14	23	32				
CCNF	899	broad.mit.edu	37	16	2498959	2498959	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2498959G>A	ENST00000397066.4	+	11	1286	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	400	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GATCGTCTCCGCCTTGGAAGG	0.527																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1198-1200)Gcc>Acc		cyclin F							99.0	86.0	90.0					16																	2498959		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2498959G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1198G>A	16.37:g.2498959G>A	ENSP00000380256:p.Ala400Thr						p.A400T	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1286	+		Ovarian(90;0.17)	400			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1198G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331870	0.41297	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.09723	2.95	5.39	1.15	0.20763	Cyclin, N-terminal (1);Cyclin-like (2);	0.202131	0.52532	N	0.000073	T	0.05868	0.0153	N	0.13352	0.335	0.45515	D	0.998471	B	0.18968	0.032	B	0.19391	0.025	T	0.41179	-0.9523	10	0.26408	T	0.33	-11.61	9.2348	0.37459	0.2696:0.0:0.7304:0.0	.	400	P41002	CCNF_HUMAN	T	400;315	ENSP00000380256:A400T	ENSP00000293968:A315T	A	+	1	0	CCNF	2438960	1.000000	0.71417	0.131000	0.22000	0.901000	0.52897	4.555000	0.60767	-0.012000	0.14223	0.462000	0.41574	GCC		0.527	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		19	39	0	0	0	1	0	19	39				
NDUFS2	4720	broad.mit.edu	37	1	161183492	161183492	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161183492C>T	ENST00000367993.3	+	13	1714	c.1266C>T	c.(1264-1266)tgC>tgT	p.C422C	FCER1G_ENST00000289902.1_5'Flank|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000392179.4_Silent_p.C422C	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	422					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTTATCGATGCAAGATCAAGG	0.443																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(1264-1266)tgC>tgT		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						124.0	117.0	119.0					1																	161183492		2203	4300	6503	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161183492C>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1266C>T	1.37:g.161183492C>T						NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Silent_p.C422C	p.C422C	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		12	1505	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		422					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.1266C>T	CCDS1224.1																																																																																				0.443	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		17	102	0	0	0	1	0	17	102				
GPR98	84059	broad.mit.edu	37	5	89938497	89938497	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:89938497G>A	ENST00000405460.2	+	12	2381	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	762					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATACTAGCCGTGACCTAATT	0.398																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2284-2286)cGt>cAt		G protein-coupled receptor 98							112.0	115.0	114.0					5																	89938497		1799	4072	5871	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938497G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2285G>A	5.37:g.89938497G>A	ENSP00000384582:p.Arg762His						p.R762H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	12	2381	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	762					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2285G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175203	0.94807	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27104	1.69	5.09	5.09	0.68999	.	0.154594	0.64402	D	0.000018	T	0.49508	0.1561	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.48948	-0.8989	10	0.54805	T	0.06	.	18.4937	0.90856	0.0:0.0:1.0:0.0	.	762	Q8WXG9	GPR98_HUMAN	H	762	ENSP00000384582:R762H	ENSP00000296619:R762H	R	+	2	0	GPR98	89974253	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	7.610000	0.82949	2.358000	0.79984	0.460000	0.39030	CGT		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	55	0	0	0	1	0	28	55				
STAB1	23166	broad.mit.edu	37	3	52552767	52552767	+	Missense_Mutation	SNP	G	G	A	rs148162424		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52552767G>A	ENST00000321725.6	+	48	4992	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1639	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGTGCGCATCGCCAGCTGGTG	0.692																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4915-4917)cGc>cAc		stabilin 1							39.0	43.0	42.0					3																	52552767		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52552767G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4916G>A	3.37:g.52552767G>A	ENSP00000312946:p.Arg1639His						p.R1639H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	48	4992	+			1639			FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4916G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586560	0.28268	.	.	ENSG00000010327	ENST00000321725	D	0.90444	-2.67	5.26	4.39	0.52855	FAS1 domain (5);	0.379400	0.27172	N	0.020582	T	0.80686	0.4670	N	0.24115	0.695	0.31758	N	0.633732	B	0.21606	0.058	B	0.19946	0.027	T	0.72640	-0.4232	10	0.13470	T	0.59	.	7.1336	0.25515	0.0878:0.0:0.7324:0.1798	.	1639	Q9NY15	STAB1_HUMAN	H	1639	ENSP00000312946:R1639H	ENSP00000312946:R1639H	R	+	2	0	STAB1	52527807	0.999000	0.42202	0.804000	0.32291	0.171000	0.22731	2.526000	0.45607	1.217000	0.43442	0.655000	0.94253	CGC		0.692	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		8	12	0	0	0	1	0	8	12				
ZNF876P	642280	broad.mit.edu	37	4	247864	247864	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:247864G>A	ENST00000356347.3	+	0	688					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAACATAAGAGAATTCATACT	0.378																																						ENST00000356347.3																			0																																																			0							g.chr4:247864G>A	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247864G>A								NR_027481.1						0	688	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.378	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		16	20	0	0	0	1	0	16	20				
NGEF	25791	broad.mit.edu	37	2	233756165	233756165	+	Missense_Mutation	SNP	G	G	A	rs377471982		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233756165G>A	ENST00000264051.3	-	8	1453	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	NGEF_ENST00000539537.1_Missense_Mutation_p.A115V|NGEF_ENST00000373552.4_Missense_Mutation_p.A300V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	392	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTCTAGCTGCGCGATCAGCTC	0.607																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1174-1176)gCg>gTg		neuronal guanine nucleotide exchange factor		G	VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	91.0	83.0	86.0		899,1175	5.2	0.0	2		86	0,8600		0,0,4300	no	missense,missense	NGEF	NM_001114090.1,NM_019850.2	64,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	300/619,392/711	233756165	2,13004	2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233756165G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1175C>T	2.37:g.233756165G>A	ENSP00000264051:p.Ala392Val					NGEF_ENST00000539537.1_Missense_Mutation_p.A115V|NGEF_ENST00000373552.4_Missense_Mutation_p.A300V	p.A392V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	8	1453	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	392			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1175C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086528	0.55861	4.54E-4	0.0	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	6.07	5.19	0.71726	Dbl homology (DH) domain (5);	0.579014	0.19410	N	0.114946	T	0.35913	0.0948	L	0.49778	1.585	0.19775	N	0.999959	P;P	0.49862	0.539;0.929	P;B	0.46253	0.509;0.355	T	0.17899	-1.0354	10	0.36615	T	0.2	-9.4337	15.6668	0.77236	0.0:0.2745:0.7255:0.0	.	300;392	E9PC42;Q8N5V2	.;NGEF_HUMAN	V	392;300;282;115;115;115	ENSP00000264051:A392V;ENSP00000362653:A300V;ENSP00000439035:A115V;ENSP00000401063:A115V;ENSP00000412614:A115V	ENSP00000264051:A392V	A	-	2	0	NGEF	233464409	0.904000	0.30761	0.010000	0.14722	0.209000	0.24338	4.313000	0.59160	1.563000	0.49615	0.655000	0.94253	GCG		0.607	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		6	25	0	0	0	1	0	6	25				
TEK	7010	broad.mit.edu	37	9	27206684	27206684	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:27206684C>T	ENST00000380036.4	+	15	2911	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	TEK_ENST00000519097.1_Silent_p.D675D|TEK_ENST00000406359.4_Silent_p.D780D	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	823					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACTGGAATGACATCAAATTTC	0.458																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2467-2469)gaC>gaT		TEK tyrosine kinase, endothelial							83.0	77.0	79.0					9																	27206684		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27206684C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2469C>T	9.37:g.27206684C>T						TEK_ENST00000406359.4_Silent_p.D780D|TEK_ENST00000519097.1_Silent_p.D675D	p.D823D	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	15	2911	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	823					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.2469C>T	CCDS6519.1																																																																																				0.458	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			9	9	0	0	0	1	0	9	9				
PDIK1L	149420	broad.mit.edu	37	1	26448718	26448718	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26448718G>A	ENST00000374271.4	+	4	963	c.676G>A	c.(676-678)Gct>Act	p.A226T	PDIK1L_ENST00000374269.1_Missense_Mutation_p.A226T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTACATGGCTCCTGAAGT	0.438																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(676-678)Gct>Act		PDLIM1 interacting kinase 1 like							65.0	61.0	62.0					1																	26448718		2203	4300	6503	SO:0001583	missense	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448718G>A	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.676G>A	1.37:g.26448718G>A	ENSP00000363389:p.Ala226Thr					PDIK1L_ENST00000374269.1_Missense_Mutation_p.A226T	p.A226T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	963	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	226			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	c.676G>A	CCDS274.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675356	0.88445	.	.	ENSG00000175087	ENST00000374271;ENST00000374269	T;T	0.51325	0.71;0.71	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.93939	3.475	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.83471	0.0059	9	.	.	.	-13.9668	19.6725	0.95915	0.0:0.0:1.0:0.0	.	226	Q8N165	PDK1L_HUMAN	T	226	ENSP00000363389:A226T;ENSP00000363387:A226T	.	A	+	1	0	PDIK1L	26321305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GCT		0.438	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		26	30	0	0	0	1	0	26	30				
TUBGCP2	10844	broad.mit.edu	37	10	135116328	135116328	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135116328C>T	ENST00000252936.3	-	1	157	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.V40I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.V40I|TUBGCP2_ENST00000417178.2_Intron|TUBGCP2_ENST00000470829.1_5'UTR			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	40					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTGGTAGTGACGTACGGGGTC	0.572																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(118-120)Gtc>Atc		tubulin, gamma complex associated protein 2							286.0	203.0	231.0					10																	135116328		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135116328C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.118G>A	10.37:g.135116328C>T	ENSP00000252936:p.Val40Ile					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.V40I|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.V40I|TUBGCP2_ENST00000417178.2_Intron	p.V40I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	2	474	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	40					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.118G>A	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024614	0.54683	.	.	ENSG00000130640	ENST00000252936;ENST00000368563;ENST00000543663	T;T;T	0.41400	1.0;1.0;1.0	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.28740	0.885	0.80722	D	1	P;P;P	0.39903	0.687;0.56;0.694	B;B;B	0.31390	0.129;0.061;0.051	T	0.09058	-1.0692	10	0.27082	T	0.32	-44.0797	15.9227	0.79589	0.0:1.0:0.0:0.0	.	40;40;40	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	40	ENSP00000252936:V40I;ENSP00000357551:V40I;ENSP00000446093:V40I	ENSP00000252936:V40I	V	-	1	0	TUBGCP2	134966318	1.000000	0.71417	0.086000	0.20670	0.939000	0.58152	7.060000	0.76692	2.168000	0.68352	0.467000	0.42956	GTC		0.572	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	41	0	0	0	1	0	15	41				
GRM5	2915	broad.mit.edu	37	11	88300528	88300528	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:88300528C>T	ENST00000305447.4	-	7	2472	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T	GRM5_ENST00000455756.2_Missense_Mutation_p.A775T|GRM5_ENST00000418177.2_Missense_Mutation_p.A775T|GRM5_ENST00000305432.5_Missense_Mutation_p.A775T|GRM5_ENST00000393297.1_Missense_Mutation_p.A775T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	775					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATTGTGAAGGCGATATACTTG	0.438																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2323-2325)Gcc>Acc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						188.0	168.0	175.0					11																	88300528		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300528C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2323G>A	11.37:g.88300528C>T	ENSP00000306138:p.Ala775Thr					GRM5_ENST00000455756.2_Missense_Mutation_p.A775T|GRM5_ENST00000305432.5_Missense_Mutation_p.A775T|GRM5_ENST00000305447.4_Missense_Mutation_p.A775T|GRM5_ENST00000393297.1_Missense_Mutation_p.A775T	p.A775T			P41594	GRM5_HUMAN			8	2690	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	775					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2323G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879468	0.91740	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.58	5.58	0.84498	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	N	0.01817	-0.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85354	0.1103	9	.	.	.	.	19.5629	0.95380	0.0:1.0:0.0:0.0	.	775;775	P41594-2;P41594	.;GRM5_HUMAN	T	775	ENSP00000402912:A775T;ENSP00000405690:A775T;ENSP00000305905:A775T;ENSP00000306138:A775T;ENSP00000376975:A775T	.	A	-	1	0	GRM5	87940176	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.798000	0.85924	2.640000	0.89533	0.561000	0.74099	GCC		0.438	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		40	76	0	0	0	1	0	40	76				
CHD5	26038	broad.mit.edu	37	1	6194781	6194781	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6194781G>A	ENST00000262450.3	-	19	3108	c.3009C>T	c.(3007-3009)gcC>gcT	p.A1003A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AACCTACCACGGCAGCCACAG	0.592																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(3007-3009)gcC>gcT		chromodomain helicase DNA binding protein 5							158.0	170.0	166.0					1																	6194781		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194781G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3009C>T	1.37:g.6194781G>A						CHD5_ENST00000378021.1_5'UTR	p.A1003A	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	19	3108	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1003					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.3009C>T	CCDS57.1																																																																																				0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		28	42	0	0	0	1	0	28	42				
SALL3	27164	broad.mit.edu	37	18	76754985	76754985	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:76754985C>T	ENST00000537592.2	+	2	2994	c.2994C>T	c.(2992-2994)agC>agT	p.S998S	SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	998					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACTACCGCAGCCATACTAAGG	0.542																																						ENST00000537592.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2992-2994)agC>agT		spalt-like transcription factor 3							61.0	61.0	61.0					18																	76754985		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754985C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2994C>T	18.37:g.76754985C>T						SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron	p.S998S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2994	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	998					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2994C>T	CCDS12013.1																																																																																				0.542	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		18	19	0	0	0	1	0	18	19				
ELFN1	392617	broad.mit.edu	37	7	1785521	1785521	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1785521T>C	ENST00000424383.2	+	3	1776	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	ELFN1_ENST00000541472.1_Missense_Mutation_p.V430A|ELFN1_ENST00000561626.1_Missense_Mutation_p.V430A			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	430					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						TTCGGCATGGTGCTGGTGCTG	0.697																																						ENST00000424383.2																			0				endometrium(1)	1						c.(1288-1290)gTg>gCg		extracellular leucine-rich repeat and fibronectin type III domain containing 1							27.0	25.0	25.0					7																	1785521		692	1591	2283	SO:0001583	missense	392617							g.chr7:1785521T>C		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1289T>C	7.37:g.1785521T>C	ENSP00000456548:p.Val430Ala					ELFN1_ENST00000541472.1_Missense_Mutation_p.V430A|ELFN1_ENST00000561626.1_Missense_Mutation_p.V430A	p.V430A							3	1776	+								H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	c.1289T>C	CCDS59046.1																																																																																				0.697	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636		2	2	0	0	0	1	0	2	2				
ADAM12	8038	broad.mit.edu	37	10	127730740	127730740	+	Intron	SNP	C	C	T	rs374599336		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:127730740C>T	ENST00000368679.4	-	18	2423				ADAM12_ENST00000368676.4_Silent_p.S726S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATGCTCCTGCGATCCCACGG	0.602																																						ENST00000368676.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2176-2178)tcG>tcA		ADAM metallopeptidase domain 12		C	,	0,4406		0,0,2203	98.0	69.0	79.0		,2178	-3.4	0.0	10		79	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,726/739	127730740	1,13005	2203	4300	6503	SO:0001627	intron_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127730740C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2113+868G>A	10.37:g.127730740C>T						ADAM12_ENST00000368679.4_Intron	p.S726S	NM_021641.3	NP_067673.2	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	19	2487	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	0					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2178G>A	CCDS7653.1																																																																																				0.602	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			9	18	0	0	0	1	0	9	18				
ANKRD11	29123	broad.mit.edu	37	16	89350883	89350883	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89350883G>A	ENST00000301030.4	-	9	2527	c.2067C>T	c.(2065-2067)caC>caT	p.H689H	ANKRD11_ENST00000378330.2_Silent_p.H689H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	689	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTCGCGATCGTGCTTTAACA	0.338																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2065-2067)caC>caT		ankyrin repeat domain 11							152.0	146.0	148.0					16																	89350883		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350883G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2067C>T	16.37:g.89350883G>A						ANKRD11_ENST00000378330.2_Silent_p.H689H	p.H689H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2527	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	689			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2067C>T	CCDS32513.1																																																																																				0.338	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		45	79	0	0	0	1	0	45	79				
MUC17	140453	broad.mit.edu	37	7	100685810	100685810	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100685810C>T	ENST00000306151.4	+	3	11177	c.11113C>T	c.(11113-11115)Cgt>Tgt	p.R3705C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3705	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACACGTGTGACCAG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11113-11115)Cgt>Tgt		mucin 17, cell surface associated							225.0	209.0	214.0					7																	100685810		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685810C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11113C>T	7.37:g.100685810C>T	ENSP00000302716:p.Arg3705Cys						p.R3705C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11177	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3705			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11113C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	6.741	0.505582	0.12822	.	.	ENSG00000169876	ENST00000306151	T	0.03496	3.91	2.12	-1.73	0.08081	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	D	0.66351	0.943	T	0.35425	-0.9789	9	0.36615	T	0.2	.	2.3315	0.04237	0.2356:0.4415:0.0:0.3229	.	3705	Q685J3	MUC17_HUMAN	C	3705	ENSP00000302716:R3705C	ENSP00000302716:R3705C	R	+	1	0	MUC17	100472530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.541000	0.00062	-0.671000	0.05274	-0.521000	0.04368	CGT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		24	93	0	0	0	1	0	24	93				
TGM2	7052	broad.mit.edu	37	20	36767992	36767992	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36767992G>A	ENST00000361475.2	-	9	1337	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	TGM2_ENST00000536701.1_Silent_p.Y307Y|TGM2_ENST00000536724.1_Silent_p.Y328Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	388					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGGCGCATCGTACTTGGTGC	0.587																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1162-1164)taC>taT		transglutaminase 2	L-Glutamine(DB00130)						115.0	83.0	94.0					20																	36767992		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36767992G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1164C>T	20.37:g.36767992G>A						TGM2_ENST00000536724.1_Silent_p.Y328Y|TGM2_ENST00000536701.1_Silent_p.Y307Y	p.Y388Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			9	1337	-		Myeloproliferative disorder(115;0.00878)	388					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.1164C>T	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		16	29	0	0	0	1	0	16	29				
GPR124	25960	broad.mit.edu	37	8	37691600	37691600	+	Missense_Mutation	SNP	G	G	A	rs376864601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37691600G>A	ENST00000412232.2	+	11	1575	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	GPR124_ENST00000315215.7_Missense_Mutation_p.R521H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	521					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCCTGGAGCGCATTGGGGGG	0.687																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1561-1563)cGc>cAc		G protein-coupled receptor 124		G	HIS/ARG	0,4392		0,0,2196	24.0	29.0	28.0		1562	4.6	1.0	8		28	1,8575		0,1,4287	no	missense	GPR124	NM_032777.9	29	0,1,6483	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	521/1339	37691600	1,12967	2196	4288	6484	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691600G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1562G>A	8.37:g.37691600G>A	ENSP00000406367:p.Arg521His					GPR124_ENST00000412232.2_Missense_Mutation_p.R521H	p.R521H			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	1925	+			521					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1562G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899110	0.33535	0.0	1.17E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.59906	0.23;0.31	4.59	4.59	0.56863	.	0.382752	0.24332	N	0.039449	T	0.43166	0.1235	L	0.40543	1.245	0.29614	N	0.846699	P;P	0.43024	0.797;0.798	B;B	0.35182	0.186;0.197	T	0.53436	-0.8439	10	0.62326	D	0.03	-12.334	8.581	0.33628	0.1733:0.0:0.8267:0.0	.	521;521	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	514;521;521	ENSP00000323508:R521H;ENSP00000406367:R521H	ENSP00000323508:R521H	R	+	2	0	GPR124	37810758	1.000000	0.71417	0.999000	0.59377	0.366000	0.29705	1.749000	0.38319	2.108000	0.64289	0.456000	0.33151	CGC		0.687	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	17	0	0	0	1	0	14	17				
UBQLNL	143630	broad.mit.edu	37	11	5536527	5536527	+	Missense_Mutation	SNP	G	G	A	rs367649472		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5536527G>A	ENST00000380184.1	-	1	1408	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	382										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCTAGGTAAGGCTGGTATCCA	0.488																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)gCc>gTc		ubiquilin-like							181.0	173.0	176.0					11																	5536527		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536527G>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1145C>T	11.37:g.5536527G>A	ENSP00000369531:p.Ala382Val					HBG2_ENST00000380259.2_Intron	p.A382V	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1408	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	382					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1145C>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005191	0.02112	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.49139	0.79	5.03	2.05	0.26809	.	0.738625	0.11588	N	0.549048	T	0.27629	0.0679	N	0.17474	0.49	0.09310	N	1	B	0.27997	0.197	B	0.24269	0.052	T	0.15954	-1.0419	10	0.25751	T	0.34	.	7.4287	0.27115	0.2784:0.0:0.7216:0.0	.	382	Q8IYU4	UBQLN_HUMAN	V	382;167	ENSP00000369531:A382V	ENSP00000369531:A382V	A	-	2	0	UBQLNL	5493103	0.091000	0.21658	0.010000	0.14722	0.057000	0.15508	0.619000	0.24388	0.668000	0.31126	0.655000	0.94253	GCC		0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		38	49	0	0	0	1	0	38	49				
SIK2	23235	broad.mit.edu	37	11	111592580	111592580	+	Silent	SNP	C	C	T	rs374853322		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111592580C>T	ENST00000304987.3	+	13	2144	c.1971C>T	c.(1969-1971)agC>agT	p.S657S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	657					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCAGGAAAGCGTCTCCACTC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19255	0.001		0.0	False		,,,				2504	0.0					ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1969-1971)agC>agT		salt-inducible kinase 2							75.0	71.0	72.0					11																	111592580		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111592580C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1971C>T	11.37:g.111592580C>T							p.S657S	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			13	2144	+			657					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.1971C>T	CCDS8347.1																																																																																				0.562	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		3	18	0	0	0	1	0	3	18				
HOXA4	3201	broad.mit.edu	37	7	27169077	27169077	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27169077G>A	ENST00000360046.5	-	2	795	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R244C	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	244					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TCGATGCGGCGCCGCCGGGTC	0.582																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(730-732)Cgc>Tgc		homeobox A4							147.0	131.0	137.0					7																	27169077		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169077G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.730C>T	7.37:g.27169077G>A	ENSP00000353151:p.Arg244Cys					HOXA4_ENST00000428284.2_Missense_Mutation_p.R244C|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	p.R244C	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	795	-			244					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.730C>T	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.060132|4.060132	0.76074|0.76074	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000360046;ENST00000428284	.|D;D	.|0.96200	.|-3.94;-3.94	4.96|4.96	4.96|4.96	0.65561|0.65561	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.64402	.|D	.|0.000011	D|D	0.98686|0.98686	0.9559|0.9559	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99727|0.99727	1.1011|1.1011	5|10	.|0.87932	.|D	.|0	.|.	18.6494|18.6494	0.91425|0.91425	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|244	.|Q00056	.|HXA4_HUMAN	V|C	63|244	.|ENSP00000353151:R244C;ENSP00000408845:R244C	.|ENSP00000353151:R244C	A|R	-|-	2|1	0|0	HOXA4|HOXA4	27135602|27135602	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	5.174000|5.174000	0.65015|0.65015	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.582	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			29	47	0	0	0	1	0	29	47				
ADAM17	6868	broad.mit.edu	37	2	9637268	9637268	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:9637268C>T	ENST00000310823.3	-	14	1940	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	586	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACTCCAGCTGCTGTTCCCTCT	0.517																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(1756-1758)caG>caA		ADAM metallopeptidase domain 17							199.0	170.0	180.0					2																	9637268		2203	4300	6503	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9637268C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1758G>A	2.37:g.9637268C>T							p.Q586Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	14	1940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		586			Cys-rich.		O60226	Silent	SNP	ENST00000310823.3	37	c.1758G>A	CCDS1665.1																																																																																				0.517	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			29	38	0	0	0	1	0	29	38				
NAA50	80218	broad.mit.edu	37	3	113442298	113442298	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113442298C>T	ENST00000240922.3	-	3	560	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493900.1_Missense_Mutation_p.C78Y|NAA50_ENST00000497525.1_Missense_Mutation_p.C5Y|NAA50_ENST00000477813.1_Intron|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000493454.1_Missense_Mutation_p.C5Y	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	79	Coenzyme A binding.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						AGGTGCCAGACATCCTAGTGT	0.388																																						ENST00000240922.2																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(235-237)tGt>tAt		N(alpha)-acetyltransferase 50, NatE catalytic subunit							109.0	100.0	103.0					3																	113442298		2203	4300	6503	SO:0001583	missense	80218				N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding	g.chr3:113442298C>T	AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"""N(alpha)-acetyltransferase subunits"""	29533	protein-coding gene	gene with protein product		610834	"""Mak3 homolog (S. cerevisiae)"", ""N-acetyltransferase 13"", ""N-acetyltransferase 13 (GCN5-related)"""	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.236G>A	3.37:g.113442298C>T	ENSP00000240922:p.Cys79Tyr					NAA50_ENST00000497525.1_Missense_Mutation_p.C5Y|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000477813.1_Intron|NAA50_ENST00000493900.1_Missense_Mutation_p.C78Y|NAA50_ENST00000493454.1_Missense_Mutation_p.C5Y	p.C79Y	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN			3	560	-			79			Coenzyme A binding.|N-acetyltransferase.		D3DN74|Q68DQ1	Missense_Mutation	SNP	ENST00000240922.3	37	c.236G>A	CCDS2975.1	.	.	.	.	.	.	.	.	.	.	c	31	5.075822	0.94000	.	.	ENSG00000121579	ENST00000240922;ENST00000497525;ENST00000493454;ENST00000493900	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.9	5.9	0.94986	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70110	-0.4962	10	0.87932	D	0	-3.3875	20.2704	0.98474	0.0:1.0:0.0:0.0	.	79	Q9GZZ1	NAA50_HUMAN	Y	79;5;5;78	ENSP00000240922:C79Y;ENSP00000417488:C5Y;ENSP00000418473:C5Y;ENSP00000417837:C78Y	ENSP00000240922:C79Y	C	-	2	0	NAA50	114924988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.591000	0.81541	TGT		0.388	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354446.2	NM_025146		19	31	0	0	0	1	0	19	31				
OPRK1	4986	broad.mit.edu	37	8	54147579	54147579	+	Missense_Mutation	SNP	G	G	A	rs527490946		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:54147579G>A	ENST00000265572.3	-	3	647	c.350C>T	c.(349-351)aCg>aTg	p.T117M	OPRK1_ENST00000524278.1_Missense_Mutation_p.T28M|OPRK1_ENST00000520287.1_Missense_Mutation_p.T117M|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	117					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAAGTAGACCGTACTCTGAAA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		21904	0.0		0.0	False		,,,				2504	0.001					ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(349-351)aCg>aTg		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						177.0	167.0	171.0					8																	54147579		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147579G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.350C>T	8.37:g.54147579G>A	ENSP00000265572:p.Thr117Met					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.T117M|OPRK1_ENST00000524278.1_Missense_Mutation_p.T28M	p.T117M	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			3	647	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	117					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.350C>T	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192430	0.58017	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.72505	-0.66;-0.66;-0.66	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.084732	0.85682	D	0.000000	D	0.83422	0.5251	M	0.79693	2.465	0.80722	D	1	D	0.54964	0.969	P	0.58266	0.836	T	0.81331	-0.0981	10	0.36615	T	0.2	.	20.3732	0.98896	0.0:0.0:1.0:0.0	.	117	P41145	OPRK_HUMAN	M	117;28;117;103	ENSP00000265572:T117M;ENSP00000430923:T28M;ENSP00000429706:T117M	ENSP00000265572:T117M	T	-	2	0	OPRK1	54310132	1.000000	0.71417	0.862000	0.33874	0.421000	0.31385	9.711000	0.98735	2.809000	0.96659	0.650000	0.86243	ACG		0.403	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			29	59	0	0	0	1	0	29	59				
ZFX	7543	broad.mit.edu	37	X	24225495	24225495	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:24225495C>T	ENST00000379177.1	+	7	1126	c.699C>T	c.(697-699)gaC>gaT	p.D233D	ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Silent_p.D233D|ZFX_ENST00000304543.5_Silent_p.D233D|ZFX_ENST00000539115.1_Silent_p.D4D|ZFX_ENST00000540034.1_Silent_p.D272D|ZFX_ENST00000338565.3_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	233					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGACCATGGACACAGAGTCGG	0.388																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(697-699)gaC>gaT		zinc finger protein, X-linked							158.0	142.0	147.0					X																	24225495		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225495C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.699C>T	X.37:g.24225495C>T						ZFX_ENST00000379188.3_Silent_p.D233D|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Silent_p.D4D|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Silent_p.D272D|ZFX_ENST00000304543.5_Silent_p.D233D	p.D233D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			7	1126	+			233					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.699C>T	CCDS14211.1																																																																																				0.388	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		55	9	0	0	0	1	0	55	9				
ZNF436	80818	broad.mit.edu	37	1	23688553	23688553	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23688553G>A	ENST00000314011.4	-	4	1458	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T441M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCTCCCGTGTGAACTCT	0.463																																						ENST00000314011.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1321-1323)aCg>aTg		zinc finger protein 436							98.0	103.0	101.0					1																	23688553		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688553G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1322C>T	1.37:g.23688553G>A	ENSP00000313582:p.Thr441Met					ZNF436_ENST00000374608.3_Missense_Mutation_p.T441M|ZNF436_ENST00000374609.1_Intron	p.T441M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1458	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	441					Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.1322C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028673	0.75390	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	T;T	0.26373	1.74;1.74	6.17	6.17	0.99709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.63165	0.2488	M	0.92367	3.3	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.70124	-0.4958	10	0.87932	D	0	-20.0553	18.3732	0.90420	0.0:0.0:1.0:0.0	.	441	Q9C0F3	ZN436_HUMAN	M	441	ENSP00000313582:T441M;ENSP00000363736:T441M	ENSP00000313582:T441M	T	-	2	0	ZNF436	23561140	1.000000	0.71417	0.888000	0.34837	0.981000	0.71138	4.169000	0.58223	2.941000	0.99782	0.655000	0.94253	ACG		0.463	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		53	60	0	0	0	1	0	53	60				
ERCC6L2	375748	broad.mit.edu	37	9	98775458	98775458	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:98775458C>T	ENST00000407474.3	+	4	2082	c.1569C>T	c.(1567-1569)aaC>aaT	p.N523N				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1553	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CAGATGAAAACGCAACCAATA	0.393																																						ENST00000407474.3																			0											c.(1567-1569)aaC>aaT		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							59.0	65.0	63.0					9																	98775458		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98775458C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1569C>T	9.37:g.98775458C>T							p.N523N			Q5T890	RAD26_HUMAN			4	2082	+			0			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000407474.3	37	c.1569C>T		.	.	.	.	.	.	.	.	.	.	C	6.865	0.529013	0.13127	.	.	ENSG00000182150	ENST00000320486	.	.	.	5.31	-0.199	0.13220	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	.	6.2783	0.20993	0.0:0.5109:0.2521:0.237	.	.	.	.	M	514	.	.	T	+	2	0	C9orf102	97815279	0.004000	0.15560	0.004000	0.12327	0.441000	0.31987	0.195000	0.17155	0.083000	0.17047	-0.142000	0.14014	ACG		0.393	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		24	34	0	0	0	1	0	24	34				
ACTL6A	86	broad.mit.edu	37	3	179287663	179287663	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179287663G>A	ENST00000429709.2	+	2	290	c.77G>A	c.(76-78)gGt>gAt	p.G26D	ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	26					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GTGAGAGCTGGTTATGCTGGT	0.348																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(76-78)gGt>gAt		actin-like 6A							150.0	152.0	151.0					3																	179287663		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287663G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.77G>A	3.37:g.179287663G>A	ENSP00000397552:p.Gly26Asp					ACTL6A_ENST00000450518.2_5'UTR|ACTL6A_ENST00000392662.1_5'UTR	p.G26D	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		2	290	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		26					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.77G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160238	0.94727	.	.	ENSG00000136518	ENST00000429709	D	0.99730	-6.56	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96586	0.9434	10	0.87932	D	0	.	18.9343	0.92579	0.0:0.0:1.0:0.0	.	26	O96019	ACL6A_HUMAN	D	26	ENSP00000397552:G26D	ENSP00000397552:G26D	G	+	2	0	ACTL6A	180770357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.542000	0.85734	0.650000	0.86243	GGT		0.348	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		10	76	0	0	0	1	0	10	76				
HEATR1	55127	broad.mit.edu	37	1	236746392	236746392	+	Silent	SNP	G	G	A	rs371355576		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:236746392G>A	ENST00000366582.3	-	18	2460	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	HEATR1_ENST00000366581.2_Silent_p.A782A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	782					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTCCTCCACGGCCACCCTCT	0.433																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2344-2346)gcC>gcT		HEAT repeat containing 1		G		1,4405	2.1+/-5.4	0,1,2202	148.0	144.0	145.0		2346	-8.7	0.0	1		145	0,8600		0,0,4300	no	coding-synonymous	HEATR1	NM_018072.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		782/2145	236746392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746392G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2346C>T	1.37:g.236746392G>A						HEATR1_ENST00000366581.2_Silent_p.A782A	p.A782A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2460	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	782					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2346C>T	CCDS31066.1																																																																																				0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		56	87	0	0	0	1	0	56	87				
KIF13B	23303	broad.mit.edu	37	8	29102917	29102917	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:29102917G>A	ENST00000524189.1	-	2	133	c.95C>T	c.(94-96)gCa>gTa	p.A32V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A32V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	32	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACCTTGTTTGCATCCACATC	0.358																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(94-96)gCa>gTa		kinesin family member 13B							69.0	61.0	64.0					8																	29102917		1888	4119	6007	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29102917G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.95C>T	8.37:g.29102917G>A	ENSP00000427900:p.Ala32Val					KIF13B_ENST00000521515.1_Missense_Mutation_p.A32V	p.A32V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	2	133	-		Ovarian(32;0.000536)	32			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.95C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860029	0.51482	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.88354	-2.37;-2.37	5.51	3.71	0.42584	.	0.432627	0.25052	N	0.033509	T	0.82098	0.4963	L	0.31207	0.915	0.80722	D	1	B;B	0.22746	0.004;0.074	B;B	0.29077	0.004;0.098	T	0.76307	-0.3007	10	0.87932	D	0	.	6.9403	0.24488	0.0886:0.0:0.7389:0.1725	.	32;32	A0JLQ2;F8VPJ2	.;.	V	32	ENSP00000427900:A32V;ENSP00000429201:A32V	ENSP00000429201:A32V	A	-	2	0	KIF13B	29158836	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.420000	0.44679	0.686000	0.31488	0.557000	0.71058	GCA		0.358	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			6	8	0	0	0	1	0	6	8				
VAMP7	6845	broad.mit.edu	37	X	155169449	155169449	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:155169449G>A	ENST00000286448.6	+	7	751	c.586G>A	c.(586-588)Gta>Ata	p.V196I	VAMP7_ENST00000460621.1_Missense_Mutation_p.V155I|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.R173H	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	196					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCATCATCGTATCAATTGT	0.348													G|||	4	0.000798722	0.0	0.0	5008	,	,		18004	0.001		0.001	False		,,,				2504	0.002					ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(586-588)Gta>Ata		vesicle-associated membrane protein 7		G	ILE/VAL,HIS/ARG,ILE/VAL	1,4405		0,1,2202	531.0	539.0	536.0		463,518,586	0.1	0.1	X	dbSNP_134	536	2,8590		0,2,4294	yes	missense,missense,missense	VAMP7	NM_001145149.2,NM_001185183.1,NM_005638.5	29,29,29	0,3,6496	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	155/180,173/261,196/221	155169449	3,12995	2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169449G>A	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.586G>A	X.37:g.155169449G>A	ENSP00000286448:p.Val196Ile					VAMP7_ENST00000460621.1_Missense_Mutation_p.V155I|VAMP7_ENST00000262640.6_Missense_Mutation_p.R173H|VAMP7_ENST00000479687.1_3'UTR	p.V196I	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			7	751	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		196					Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.586G>A	CCDS14770.4	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	0.008|0.008	-1.882337|-1.882337	0.00532|0.00532	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000124333|ENSG00000124333	ENST00000262640|ENST00000286448;ENST00000460621	T|T;T	0.21361|0.44482	2.01|0.92;0.92	2.99|2.99	0.121|0.121	0.14695|0.14695	.|Synaptobrevin (2);	3.505800|.	0.01732|.	N|.	0.028908|.	T|T	0.19725|0.19725	0.0474|0.0474	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B;B;B	0.06786|0.23540	0.001|0.021;0.014;0.014;0.087	B|B;B;B;B	0.01281|0.25614	0.0|0.012;0.015;0.016;0.062	T|T	0.31420|0.31420	-0.9944|-0.9944	9|8	0.59425|0.08599	D|T	0.04|0.76	.|.	6.6714|6.6714	0.23070|0.23070	0.375:0.0:0.625:0.0|0.375:0.0:0.625:0.0	.|.	173|129;157;155;196	P51809-2|B4DE96;B4DIH9;P51809-3;P51809	.|.;.;.;VAMP7_HUMAN	H|I	173|196;155	ENSP00000262640:R173H|ENSP00000286448:V196I;ENSP00000427822:V155I	ENSP00000262640:R173H|ENSP00000286448:V196I	R|V	+|+	2|1	0|0	VAMP7|VAMP7	154822643|154822643	1.000000|1.000000	0.71417|0.71417	0.147000|0.147000	0.22382|0.22382	0.082000|0.082000	0.17680|0.17680	3.336000|3.336000	0.52113|0.52113	-0.230000|-0.230000	0.09840|0.09840	-0.757000|-0.757000	0.03467|0.03467	CGT|GTA		0.348	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		10	86	0	0	0	1	0	10	86				
FNIP2	57600	broad.mit.edu	37	4	159790204	159790204	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159790204G>A	ENST00000264433.6	+	13	2491	c.2416G>A	c.(2416-2418)Gca>Aca	p.A806T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A829T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	806	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AAACGACATGGCAGCAGATAT	0.587																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2416-2418)Gca>Aca		folliculin interacting protein 2							89.0	94.0	92.0					4																	159790204		2142	4261	6403	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790204G>A	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2416G>A	4.37:g.159790204G>A	ENSP00000264433:p.Ala806Thr					FNIP2_ENST00000379346.3_Missense_Mutation_p.A829T	p.A806T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2491	+	all_hematologic(180;0.24)		806			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2416G>A	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057842	0.19987	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.22743	1.94;1.94	5.18	-0.186	0.13272	.	2.209180	0.01935	N	0.041506	T	0.07052	0.0179	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33445	-0.9868	9	.	.	.	.	10.5696	0.45192	0.4968:0.0:0.5032:0.0	.	806	Q9P278	FNIP2_HUMAN	T	806;829	ENSP00000264433:A806T;ENSP00000368651:A829T	.	A	+	1	0	FNIP2	160009654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.011000	0.13264	-0.312000	0.08741	-0.880000	0.02959	GCA		0.587	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		42	52	0	0	0	1	0	42	52				
NPLOC4	55666	broad.mit.edu	37	17	79536061	79536061	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79536061T>C	ENST00000331134.6	-	14	1645	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000573876.1_5'Flank|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D316G|NPLOC4_ENST00000374747.5_Missense_Mutation_p.D477G	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	477					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACCCAATACATCCCGGTTTTC	0.358																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1429-1431)gAt>gGt		nuclear protein localization 4 homolog (S. cerevisiae)							97.0	95.0	96.0					17																	79536061		1859	4099	5958	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79536061T>C	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1430A>G	17.37:g.79536061T>C	ENSP00000331487:p.Asp477Gly					NPLOC4_ENST00000539314.1_Missense_Mutation_p.D316G|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D477G	p.D477G			Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		14	1559	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		477					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1430A>G	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434943	0.62955	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.044283	0.85682	D	0.000000	T	0.62938	0.2469	M	0.61703	1.905	0.80722	D	1	B;B;B	0.29646	0.156;0.213;0.253	B;B;B	0.36030	0.216;0.108;0.173	T	0.59568	-0.7430	9	0.24483	T	0.36	-29.278	14.8257	0.70110	0.0:0.0:0.0:1.0	.	316;477;477	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	G	477;476;316	.	ENSP00000331487:D477G	D	-	2	0	NPLOC4	77146498	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.800000	0.69108	2.152000	0.67230	0.460000	0.39030	GAT		0.358	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			15	26	0	0	0	1	0	15	26				
APBA1	320	broad.mit.edu	37	9	72067036	72067036	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72067036A>G	ENST00000265381.4	-	9	2191		c.e9+1			NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTAAGTACCCACATCTTTACA	0.532																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.e9+1		amyloid beta (A4) precursor protein-binding, family A, member 1							163.0	156.0	158.0					9																	72067036		2203	4300	6503	SO:0001630	splice_region_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72067036A>G	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1968+1T>C	9.37:g.72067036A>G								NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			9	2191	-								O14914|O60570|Q5VYR8	Splice_Site	SNP	ENST00000265381.4	37		CCDS6630.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992559	0.74703	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.54	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3951	0.49836	0.929:0.0:0.071:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APBA1	71256856	1.000000	0.71417	0.973000	0.42090	0.846000	0.48090	7.429000	0.80309	0.937000	0.37394	0.533000	0.62120	.		0.532	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	Intron	12	68	0	0	0	1	0	12	68				
ABCC5	10057	broad.mit.edu	37	3	183703152	183703152	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:183703152G>A	ENST00000334444.6	-	6	832				ABCC5_ENST00000382494.2_Silent_p.G202G|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000427120.2_3'UTR|ABCC5_ENST00000492216.1_5'Flank	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCAGAATACAGCCATCCTGAA	0.488																																						ENST00000382494.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(604-606)ggC>ggT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							141.0	146.0	144.0					3																	183703152		2203	4300	6503	SO:0001627	intron_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183703152G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.592-2357C>T	3.37:g.183703152G>A						ABCC5_ENST00000334444.6_Intron|ABCC5_ENST00000265586.6_Intron|ABCC5_ENST00000392579.2_Intron|ABCC5_ENST00000427120.2_3'UTR	p.G202G	NM_001023587.1	NP_001018881.1	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	720	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		0			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.606C>T	CCDS43176.1																																																																																				0.488	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		35	64	0	0	0	1	0	35	64				
RFX7	64864	broad.mit.edu	37	15	56388088	56388088	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:56388088G>A	ENST00000559447.2	-	9	1818	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	RFX7_ENST00000423270.1_Missense_Mutation_p.T613M|RFX7_ENST00000422057.1_Missense_Mutation_p.T516M|RFX7_ENST00000317318.6_Missense_Mutation_p.T613M			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	516					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCCTGTTGACGTGCCTGGCAG	0.418																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1837-1839)aCg>aTg		regulatory factor X, 7							101.0	95.0	97.0					15																	56388088		1986	4166	6152	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388088G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1547C>T	15.37:g.56388088G>A	ENSP00000453281:p.Thr516Met					RFX7_ENST00000317318.6_Missense_Mutation_p.T613M|RFX7_ENST00000559447.2_Missense_Mutation_p.T516M|RFX7_ENST00000422057.1_Missense_Mutation_p.T516M	p.T613M	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1837	-			516					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1838C>T		.	.	.	.	.	.	.	.	.	.	G	11.88	1.769353	0.31320	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.53206	0.64;0.63;0.63	5.09	4.16	0.48862	.	0.483859	0.21149	N	0.079347	T	0.23846	0.0577	N	0.08118	0	0.30649	N	0.755647	B;P	0.36027	0.173;0.533	B;B	0.20767	0.031;0.031	T	0.17930	-1.0353	10	0.62326	D	0.03	-1.1381	11.7369	0.51769	0.0872:0.0:0.9128:0.0	.	516;516	Q2KHR2;C9JU50	RFX7_HUMAN;.	M	516;613;613	ENSP00000387504:T516M;ENSP00000313299:T613M;ENSP00000397644:T613M	ENSP00000313299:T613M	T	-	2	0	RFX7	54175380	0.964000	0.33143	0.910000	0.35882	0.955000	0.61496	1.863000	0.39459	1.086000	0.41228	0.655000	0.94253	ACG		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		10	19	0	0	0	1	0	10	19				
XIRP2	129446	broad.mit.edu	37	2	168074807	168074807	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168074807G>A	ENST00000409728.1	+	6	1043	c.954G>A	c.(952-954)gaG>gaA	p.E318E	XIRP2_ENST00000409043.1_Silent_p.E285E|XIRP2_ENST00000409605.1_Silent_p.E63E|XIRP2_ENST00000409273.1_Silent_p.E63E|XIRP2_ENST00000409195.1_Silent_p.E285E|XIRP2_ENST00000295237.9_Silent_p.E285E|XIRP2_ENST00000409756.2_Silent_p.E285E|XIRP2_ENST00000420519.1_Silent_p.E318E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	110					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGATCTGAGCAGGTAATAC	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(853-855)gaG>gaA		xin actin-binding repeat containing 2							70.0	68.0	68.0					2																	168074807		1891	4123	6014	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168074807G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.954G>A	2.37:g.168074807G>A						XIRP2_ENST00000420519.1_Silent_p.E318E|XIRP2_ENST00000409728.1_Silent_p.E318E|XIRP2_ENST00000409756.2_Silent_p.E285E|XIRP2_ENST00000295237.9_Silent_p.E285E|XIRP2_ENST00000409605.1_Silent_p.E63E|XIRP2_ENST00000409273.1_Silent_p.E63E|XIRP2_ENST00000409043.1_Silent_p.E285E	p.E285E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			5	944	+			110					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.855G>A	CCDS56143.1																																																																																				0.388	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		5	40	0	0	0	1	0	5	40				
UNC80	285175	broad.mit.edu	37	2	210642204	210642204	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210642204G>A	ENST00000439458.1	+	4	601	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	UNC80_ENST00000272845.6_Missense_Mutation_p.R174Q|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	174					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R174Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAGAACAACCGAAGAAAGATC	0.502																																						ENST00000439458.1																			2	Substitution - Missense(2)	p.R174Q(2)	large_intestine(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(520-522)cGa>cAa		unc-80 homolog (C. elegans)							119.0	121.0	121.0					2																	210642204		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642204G>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.521G>A	2.37:g.210642204G>A	ENSP00000391088:p.Arg174Gln					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R174Q	p.R174Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			4	601	+			174					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.521G>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466773	0.96257	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.32515	1.45;1.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.77557	0.99;0.748	T	0.43782	-0.9370	10	0.51188	T	0.08	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	174;174	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Q	174	ENSP00000391088:R174Q;ENSP00000272845:R174Q	ENSP00000272845:R174Q	R	+	2	0	UNC80	210350449	1.000000	0.71417	0.953000	0.39169	0.991000	0.79684	7.755000	0.85180	2.894000	0.99253	0.655000	0.94253	CGA		0.502	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		32	58	0	0	0	1	0	32	58				
ORAI3	93129	broad.mit.edu	37	16	30964860	30964860	+	Missense_Mutation	SNP	G	G	A	rs553613759		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30964860G>A	ENST00000318663.4	+	2	807	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.G195R	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	195					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCGGGTGCCCGGGACTCTGGC	0.627											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(583-585)Ggg>Agg		ORAI calcium release-activated calcium modulator 3							150.0	178.0	168.0					16																	30964860		2197	4300	6497	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30964860G>A	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.583G>A	16.37:g.30964860G>A	ENSP00000322249:p.Gly195Arg		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.G195R|AC135048.13_ENST00000566056.1_RNA	p.G195R	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	807	+			195					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.583G>A	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	G	8.263	0.811536	0.16537	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.29917	1.55	4.81	3.84	0.44239	.	0.316676	0.22658	N	0.057223	T	0.10895	0.0266	N	0.02011	-0.69	0.19945	N	0.999949	B	0.13145	0.007	B	0.11329	0.006	T	0.15235	-1.0444	10	0.29301	T	0.29	-10.4495	7.2779	0.26294	0.0961:0.1697:0.7342:0.0	.	195	Q9BRQ5	ORAI3_HUMAN	R	195	ENSP00000322249:G195R	ENSP00000322249:G195R	G	+	1	0	ORAI3	30872361	0.946000	0.32159	0.998000	0.56505	0.330000	0.28571	3.181000	0.50903	2.227000	0.72691	0.650000	0.86243	GGG		0.627	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		99	143	0	0	0	1	0	99	143				
AMBRA1	55626	broad.mit.edu	37	11	46564389	46564389	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46564389C>T	ENST00000458649.2	-	7	1596	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AMBRA1_ENST00000533727.1_Missense_Mutation_p.R303H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R393H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R303H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	393					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCCAAAGAGCGGCGGGTAGG	0.607																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1177-1179)cGc>cAc		autophagy/beclin-1 regulator 1							68.0	78.0	75.0					11																	46564389		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564389C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1178G>A	11.37:g.46564389C>T	ENSP00000415327:p.Arg393His					AMBRA1_ENST00000533727.1_Missense_Mutation_p.R303H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R303H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R393H|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R393H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R393H	p.R393H			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1596	-			393					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.1178G>A		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075548	0.55646	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.73047	-0.55;-0.71;-0.33;-0.45;-0.33;-0.47;-0.45	5.85	5.85	0.93711	.	0.174333	0.49916	D	0.000129	T	0.78566	0.4303	L	0.29908	0.895	0.49582	D	0.999803	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999	P;D;D;D;D;D	0.79784	0.77;0.989;0.989;0.989;0.993;0.989	T	0.80072	-0.1535	10	0.87932	D	0	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	393;393;393;303;303;303	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	303;303;393;393;393;303;393;393	ENSP00000318313:R303H;ENSP00000433372:R303H;ENSP00000431926:R393H;ENSP00000410899:R393H;ENSP00000298834:R393H;ENSP00000415327:R393H;ENSP00000433945:R393H	ENSP00000298834:R393H	R	-	2	0	AMBRA1	46520965	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.335000	0.65929	2.767000	0.95098	0.563000	0.77884	CGC		0.607	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		16	35	0	0	0	1	0	16	35				
F9	2158	broad.mit.edu	37	X	138630553	138630553	+	Silent	SNP	C	C	T	rs150041781	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:138630553C>T	ENST00000218099.2	+	5	430	c.423C>T	c.(421-423)tgC>tgT	p.C141C	F9_ENST00000394090.2_Silent_p.C103C	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	141	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	ATGGCAGATGCGAGCAGTTTT	0.383																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CI043724|CM940497|CM940498	F9	I|M	rs150041781	c.(421-423)tgC>tgT		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	C		0,3835		0,0,0,1632,571	188.0	163.0	171.0		423	3.1	1.0	X	dbSNP_134	171	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		141/462	138630553	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630553C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.423C>T	X.37:g.138630553C>T						F9_ENST00000394090.2_Silent_p.C103C	p.C141C	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			5	430	+	Acute lymphoblastic leukemia(192;0.000127)		141			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.423C>T	CCDS14666.1																																																																																				0.383	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			22	24	0	0	0	1	0	22	24				
NIN	51199	broad.mit.edu	37	14	51192762	51192762	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51192762G>A	ENST00000382041.3	-	30	6291	c.6101C>T	c.(6100-6102)aCt>aTt	p.T2034I	NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.T2034I|NIN_ENST00000530997.2_Missense_Mutation_p.T2034I|NIN_ENST00000382043.4_Missense_Mutation_p.T1321I|NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2034					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCCATGACAGTTACCAGTTG	0.388			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(6100-6102)aCt>aTt		ninein (GSK3B interacting protein)							155.0	136.0	142.0					14																	51192762		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192762G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6101C>T	14.37:g.51192762G>A	ENSP00000371472:p.Thr2034Ile					NIN_ENST00000530997.2_Missense_Mutation_p.T2034I|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382041.3_Missense_Mutation_p.T2034I|NIN_ENST00000382043.4_Missense_Mutation_p.T1321I|NIN_ENST00000324330.9_3'UTR	p.T2034I	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			30	6291	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2034					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6101C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886645	0.33348	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	T;T;T	0.29917	1.55;2.71;3.23	5.93	-1.29	0.09288	.	0.782660	0.11689	N	0.539071	T	0.19725	0.0474	L	0.44542	1.39	0.09310	N	0.999999	B;B;B;B	0.30439	0.279;0.279;0.112;0.279	B;B;B;B	0.28139	0.086;0.086;0.039;0.086	T	0.20371	-1.0277	10	0.44086	T	0.13	-0.7316	2.7873	0.05377	0.1561:0.1025:0.201:0.5404	.	2040;2034;1321;2034	Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.;NIN_HUMAN;.;.	I	2034;2017;1321;2040;2034	ENSP00000245441:T2034I;ENSP00000371474:T1321I;ENSP00000371472:T2034I	ENSP00000245441:T2034I	T	-	2	0	NIN	50262512	0.677000	0.27577	0.098000	0.21074	0.778000	0.44026	1.053000	0.30442	0.071000	0.16664	-0.176000	0.13171	ACT		0.388	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		30	31	0	0	0	1	0	30	31				
ENTPD3	956	broad.mit.edu	37	3	40457492	40457492	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:40457492G>A	ENST00000301825.3	+	7	877	c.759G>A	c.(757-759)acG>acA	p.T253T	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.T253T|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.T253T|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	253					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.T253T(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACGTATACACGCTCTACACAC	0.542																																						ENST00000301825.3																			1	Substitution - coding silent(1)	p.T253T(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(757-759)acG>acA		ectonucleoside triphosphate diphosphohydrolase 3							102.0	84.0	90.0					3																	40457492		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457492G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.759G>A	3.37:g.40457492G>A						ENTPD3_ENST00000445129.1_Silent_p.T253T|ENTPD3_ENST00000456402.1_Silent_p.T253T|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	p.T253T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	877	+			253					B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.759G>A	CCDS2691.1																																																																																				0.542	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		12	9	0	0	0	1	0	12	9				
CERCAM	51148	broad.mit.edu	37	9	131191242	131191242	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131191242C>T	ENST00000372838.4	+	8	1395	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R255C|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	333					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGGCCTGACCGTCGGGAACG	0.667																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(763-765)Cgt>Tgt		cerebral endothelial cell adhesion molecule							43.0	30.0	34.0					9																	131191242		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131191242C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.997C>T	9.37:g.131191242C>T	ENSP00000361929:p.Arg333Cys					CERCAM_ENST00000372838.4_Missense_Mutation_p.R333C	p.R255C			Q5T4B2	GT253_HUMAN			9	3907	+			333					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.763C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314602	0.81358	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.90563	-2.61;-2.69	5.39	4.48	0.54585	.	0.122861	0.53938	D	0.000057	D	0.96343	0.8807	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97070	0.9777	10	0.87932	D	0	-2.4505	14.1548	0.65410	0.1513:0.8487:0.0:0.0	.	333	Q5T4B2	GT253_HUMAN	C	255;333;286	ENSP00000361933:R255C;ENSP00000361929:R333C	ENSP00000361929:R333C	R	+	1	0	CERCAM	130231063	1.000000	0.71417	0.775000	0.31657	0.121000	0.20230	3.154000	0.50693	1.231000	0.43661	0.557000	0.71058	CGT		0.667	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		4	5	0	0	0	1	0	4	5				
NUTM1	256646	broad.mit.edu	37	15	34646000	34646000	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34646000G>T	ENST00000333756.4	+	4	1073	c.918G>T	c.(916-918)caG>caT	p.Q306H	NUTM1_ENST00000537011.1_Missense_Mutation_p.Q334H|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q324H	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	306						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATGGGTCTCAGGGCCTGTCTC	0.537																																						ENST00000537011.1																			0											c.(1000-1002)caG>caT		NUT midline carcinoma, family member 1							142.0	128.0	133.0					15																	34646000		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34646000G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.918G>T	15.37:g.34646000G>T	ENSP00000329448:p.Gln306His					NUTM1_ENST00000333756.4_Missense_Mutation_p.Q306H|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q324H	p.Q334H							5	1384	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1002G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872995	0.33069	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.27104	1.69;1.69;1.69	5.49	3.62	0.41486	Nuclear Testis  protein, N-terminal (1);	0.721992	0.12605	N	0.454367	T	0.46908	0.1417	M	0.78637	2.42	0.18873	N	0.999983	D;D;D	0.60575	0.988;0.985;0.983	P;P;P	0.60886	0.853;0.77;0.88	T	0.29150	-1.0021	10	0.66056	D	0.02	.	9.6043	0.39624	0.1295:0.0:0.8705:0.0	.	324;334;306	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	H	334;324;306	ENSP00000444896:Q334H;ENSP00000407031:Q324H;ENSP00000329448:Q306H	ENSP00000329448:Q306H	Q	+	3	2	C15orf55	32433292	0.969000	0.33509	0.264000	0.24511	0.155000	0.21991	0.447000	0.21710	0.682000	0.31407	0.557000	0.71058	CAG		0.537	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		35	46	1	0	1.36161e-19	1	1.50697e-19	35	46				
BCL9	607	broad.mit.edu	37	1	147096381	147096381	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147096381A>G	ENST00000234739.3	+	10	4642	c.3902A>G	c.(3901-3903)gAc>gGc	p.D1301G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1301	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGAACTCCGGACATCCCTCTT	0.577			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(3901-3903)gAc>gGc		B-cell CLL/lymphoma 9							91.0	72.0	78.0					1																	147096381		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096381A>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3902A>G	1.37:g.147096381A>G	ENSP00000234739:p.Asp1301Gly						p.D1301G	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			10	4642	+	all_hematologic(923;0.115)		1301			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3902A>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384562	0.25031	.	.	ENSG00000116128	ENST00000234739	T	0.57907	0.37	5.26	5.26	0.73747	.	0.046708	0.85682	D	0.000000	T	0.22126	0.0533	N	0.21373	0.66	0.58432	D	0.999999	P;P	0.34934	0.476;0.476	B;B	0.33295	0.161;0.161	T	0.09292	-1.0681	10	0.16420	T	0.52	-19.6306	15.1655	0.72821	1.0:0.0:0.0:0.0	.	1301;1301	Q1JQ81;O00512	.;BCL9_HUMAN	G	1301	ENSP00000234739:D1301G	ENSP00000234739:D1301G	D	+	2	0	BCL9	145563005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.959000	0.93110	1.987000	0.57996	0.528000	0.53228	GAC		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		15	14	0	0	0	1	0	15	14				
NLRP3	114548	broad.mit.edu	37	1	247587175	247587175	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247587175G>A	ENST00000336119.3	+	3	1176	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	NLRP3_ENST00000391827.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366497.2_Missense_Mutation_p.V144M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.V144M|NLRP3_ENST00000391828.3_Missense_Mutation_p.V144M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAAAGTACGTGAGAAGCAG	0.507																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(430-432)Gtg>Atg		NLR family, pyrin domain containing 3							91.0	72.0	78.0					1																	247587175		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587175G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.430G>A	1.37:g.247587175G>A	ENSP00000337383:p.Val144Met					NLRP3_ENST00000391828.3_Missense_Mutation_p.V144M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.V144M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V144M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V144M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V144M	p.V144M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1210	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	144					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.430G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	6.914	0.538263	0.13188	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.27	1.42	0.22433	.	0.548784	0.15781	N	0.244915	D	0.89382	0.6699	M	0.70595	2.14	0.09310	N	1	D;P;D;D;P	0.89917	0.999;0.881;1.0;0.998;0.915	P;B;D;D;P	0.87578	0.774;0.357;0.998;0.921;0.475	T	0.78196	-0.2298	10	0.08837	T	0.75	.	6.1282	0.20192	0.3155:0.0:0.6845:0.0	.	144;144;144;144;144	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	144	ENSP00000375704:V144M;ENSP00000355453:V144M;ENSP00000337383:V144M;ENSP00000294752:V144M;ENSP00000355452:V144M;ENSP00000375703:V144M	ENSP00000337383:V144M	V	+	1	0	NLRP3	245653798	0.007000	0.16637	0.002000	0.10522	0.069000	0.16628	0.112000	0.15479	0.348000	0.23949	-0.150000	0.13652	GTG		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		4	20	0	0	0	1	0	4	20				
EXOC6	54536	broad.mit.edu	37	10	94679782	94679782	+	Missense_Mutation	SNP	G	G	A	rs563282365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94679782G>A	ENST00000260762.6	+	8	877	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Missense_Mutation_p.R304Q|EXOC6_ENST00000371552.4_Missense_Mutation_p.R283Q	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	288					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCTGTTTATCGATGTTTGCAC	0.264													G|||	1	0.000199681	0.0	0.0	5008	,	,		16832	0.0		0.001	False		,,,				2504	0.0					ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(847-849)cGa>cAa		exocyst complex component 6							135.0	122.0	127.0					10																	94679782		2201	4295	6496	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94679782G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.863G>A	10.37:g.94679782G>A	ENSP00000260762:p.Arg288Gln					EXOC6_ENST00000260762.6_Missense_Mutation_p.R288Q|EXOC6_ENST00000371547.4_Missense_Mutation_p.R304Q|EXOC6_ENST00000443748.2_Intron	p.R283Q	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			8	877	+		Colorectal(252;0.123)	288					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.848G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268657	0.59540	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000260762	T;T;T	0.33216	1.42;1.42;1.42	5.67	2.85	0.33270	.	0.048832	0.85682	N	0.000000	T	0.28797	0.0714	L	0.52823	1.66	0.80722	D	1	P;P;P;P	0.48911	0.873;0.917;0.665;0.665	B;B;B;B	0.41332	0.354;0.298;0.206;0.206	T	0.06338	-1.0832	10	0.72032	D	0.01	-0.7436	10.896	0.47023	0.2056:0.0:0.7944:0.0	.	304;280;288;283	F2Z2Q3;B4DEZ1;Q8TAG9;E9PHI3	.;.;EXOC6_HUMAN;.	Q	304;283;288	ENSP00000360602:R304Q;ENSP00000360607:R283Q;ENSP00000260762:R288Q	ENSP00000260762:R288Q	R	+	2	0	EXOC6	94669762	1.000000	0.71417	0.978000	0.43139	0.438000	0.31896	3.467000	0.53078	0.437000	0.26423	0.585000	0.79938	CGA		0.264	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		6	14	0	0	0	1	0	6	14				
ARSK	153642	broad.mit.edu	37	5	94903715	94903715	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:94903715T>C	ENST00000380009.4	+	3	583	c.378T>C	c.(376-378)ttT>ttC	p.F126F		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	126					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CACAGAAATTTGGGAAACTGG	0.388																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(376-378)ttT>ttC		arylsulfatase family, member K							76.0	76.0	76.0					5																	94903715		2203	4300	6503	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94903715T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.378T>C	5.37:g.94903715T>C							p.F126F	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	583	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	126					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.378T>C	CCDS4073.1																																																																																				0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		10	25	0	0	0	1	0	10	25				
SNX4	8723	broad.mit.edu	37	3	125216976	125216976	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125216976T>C	ENST00000251775.4	-	3	350	c.326A>G	c.(325-327)gAa>gGa	p.E109G	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAACTCAAATTCACTATATCG	0.393																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(325-327)gAa>gGa		sorting nexin 4							70.0	71.0	71.0					3																	125216976		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125216976T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.326A>G	3.37:g.125216976T>C	ENSP00000251775:p.Glu109Gly					SNX4_ENST00000536067.1_5'UTR|SNX4_ENST00000473417.1_5'UTR	p.E109G	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			3	350	-			109			PX.		B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.326A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529378	0.85706	.	.	ENSG00000114520	ENST00000251775	T	0.50548	0.74	5.24	5.24	0.73138	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	H	0.96142	3.775	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.85565	0.1230	10	0.87932	D	0	-20.1444	15.322	0.74129	0.0:0.0:0.0:1.0	.	109	O95219	SNX4_HUMAN	G	109	ENSP00000251775:E109G	ENSP00000251775:E109G	E	-	2	0	SNX4	126699666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.050000	0.76620	2.201000	0.70794	0.528000	0.53228	GAA		0.393	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		22	67	0	0	0	1	0	22	67				
SOGA3	387104	broad.mit.edu	37	6	127797040	127797040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127797040G>A	ENST00000525778.1	-	6	2876	c.2131C>T	c.(2131-2133)Cag>Tag	p.Q711*	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000368268.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000481848.2_Nonsense_Mutation_p.Q711*			Q5TF21	SOGA3_HUMAN	SOGA family member 3	711					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCGTTGATCTGCAGGCGCGCC	0.632																																						ENST00000556132.1																			0											c.(2131-2133)Cag>Tag		SOGA family member 3							67.0	74.0	71.0					6																	127797040		2196	4296	6492	SO:0001587	stop_gained	387104					integral to membrane		g.chr6:127797040G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2131C>T	6.37:g.127797040G>A	ENSP00000434570:p.Gln711*					SOGA3_ENST00000481848.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000368268.2_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000525778.1_Nonsense_Mutation_p.Q711*|SOGA3_ENST00000465909.2_Nonsense_Mutation_p.Q711*	p.Q711*	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2995	-			711						Nonsense_Mutation	SNP	ENST00000525778.1	37	c.2131C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	47	13.656243	0.99755	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.5159	18.783	0.91942	0.0:0.0:1.0:0.0	.	.	.	.	X	711	.	ENSP00000435559:Q711X	Q	-	1	0	C6orf174	127838733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.804000	0.85993	2.445000	0.82738	0.561000	0.74099	CAG		0.632	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		34	41	0	0	0	1	0	34	41				
KDM4B	23030	broad.mit.edu	37	19	5039901	5039901	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5039901G>A	ENST00000159111.4	+	4	414	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	KDM4B_ENST00000536461.1_Missense_Mutation_p.V66M|KDM4B_ENST00000381759.4_Missense_Mutation_p.V66M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	66					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CATCGACGACGTGGTGATCCC	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(196-198)Gtg>Atg		lysine (K)-specific demethylase 4B							81.0	77.0	78.0					19																	5039901		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5039901G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.196G>A	19.37:g.5039901G>A	ENSP00000159111:p.Val66Met					KDM4B_ENST00000536461.1_Missense_Mutation_p.V66M|KDM4B_ENST00000381759.4_Missense_Mutation_p.V66M	p.V66M	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	414	+			66					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.196G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989899	0.18966	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.46819	0.86;0.86;0.86	4.04	3.0	0.34707	.	0.052972	0.64402	D	0.000001	T	0.16685	0.0401	N	0.02685	-0.53	0.36302	D	0.857108	B;B;B	0.28820	0.224;0.056;0.143	B;B;B	0.19148	0.024;0.011;0.011	T	0.11421	-1.0588	10	0.27082	T	0.32	-36.8251	3.7518	0.08569	0.3562:0.0:0.6438:0.0	.	66;66;66	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	M	66	ENSP00000159111:V66M;ENSP00000371178:V66M;ENSP00000440495:V66M	ENSP00000159111:V66M	V	+	1	0	KDM4B	4990901	0.904000	0.30761	1.000000	0.80357	0.778000	0.44026	1.614000	0.36911	2.240000	0.73641	0.462000	0.41574	GTG		0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		20	36	0	0	0	1	0	20	36				
ELAVL3	1995	broad.mit.edu	37	19	11565665	11565665	+	Silent	SNP	C	C	T	rs528658221		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11565665C>T	ENST00000359227.3	-	7	1204	c.780G>A	c.(778-780)tcG>tcA	p.S260S	ELAVL3_ENST00000438662.2_Silent_p.S253S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	260					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCGATCGGCGAGAACCTGG	0.682													c|||	1	0.000199681	0.0	0.0	5008	,	,		13406	0.0		0.0	False		,,,				2504	0.001					ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(778-780)tcG>tcA		ELAV like neuron-specific RNA binding protein 3							104.0	117.0	113.0					19																	11565665		2202	4291	6493	SO:0001819	synonymous_variant	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11565665C>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.780G>A	19.37:g.11565665C>T						ELAVL3_ENST00000438662.2_Silent_p.S253S	p.S260S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			7	1204	-			260					Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	c.780G>A	CCDS32912.1																																																																																				0.682	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		54	98	0	0	0	1	0	54	98				
PNMAL2	57469	broad.mit.edu	37	19	46998410	46998410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46998410G>A	ENST00000377655.2	-	1	312	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.C174Y|PNMAL2_ENST00000599531.1_Nonsense_Mutation_p.Q105*			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	105										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CGTCTCATCTGCCTCAGGACC	0.687																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(313-315)Cag>Tag		paraneoplastic Ma antigen family-like 2							99.0	105.0	103.0					19																	46998410		2203	4300	6503	SO:0001587	stop_gained	57469							g.chr19:46998410G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.313C>T	19.37:g.46998410G>A	ENSP00000366883:p.Gln105*					PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.C174Y|PNMAL2_ENST00000377655.2_Nonsense_Mutation_p.Q105*	p.Q105*	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1345	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	105					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Nonsense_Mutation	SNP	ENST00000377655.2	37	c.313C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.840742|5.840742	0.97009|0.97009	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|.	.|.	.|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|.	.|.	.|.	.|.	T|.	0.42877|.	0.1222|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|.	0.51865|.	-0.8651|.	6|.	0.87932|0.27785	D|T	0|0.31	-10.1627|-10.1627	9.1281|9.1281	0.36828|0.36828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174|.	Q6ZVU4|.	.|.	Y|X	174|105	.|.	ENSP00000366880:C174Y|ENSP00000366883:Q105X	C|Q	+|-	2|1	0|0	AC011484.1|PNMAL2	51690250|51690250	0.928000|0.928000	0.31464|0.31464	0.984000|0.984000	0.44739|0.44739	0.882000|0.882000	0.50991|0.50991	2.359000|2.359000	0.44142|0.44142	1.811000|1.811000	0.52892|0.52892	0.561000|0.561000	0.74099|0.74099	TGC|CAG		0.687	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		10	114	0	0	0	1	0	10	114				
WNK2	65268	broad.mit.edu	37	9	95993352	95993352	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95993352C>T	ENST00000297954.4	+	3	1037	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A346V|WNK2_ENST00000395475.2_Missense_Mutation_p.A332V|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TTGGGCCTGGCCACTCTGAAA	0.537																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(1036-1038)gCc>gTc		WNK lysine deficient protein kinase 2							177.0	179.0	178.0					9																	95993352		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:95993352C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1037C>T	9.37:g.95993352C>T	ENSP00000297954:p.Ala346Val					WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A346V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.A332V|WNK2_ENST00000427277.2_5'UTR	p.A346V			Q9Y3S1	WNK2_HUMAN			3	1037	+			346			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.1037C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649535|4.649535	0.87958|0.87958	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475|ENST00000432730	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77538|0.77538	0.4145|0.4145	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.76740|0.76740	-0.2848|-0.2848	10|5	0.87932|.	D|.	0|.	.|.	19.4417|19.4417	0.94823|0.94823	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	346;346;346;346|.	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|S	346;346;346;332|342	ENSP00000412465:A346V;ENSP00000297954:A346V;ENSP00000378860:A346V;ENSP00000378858:A332V|.	ENSP00000297954:A346V|.	A|P	+|+	2|1	0|0	WNK2|WNK2	95033173|95033173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.638000|7.638000	0.83328|0.83328	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.537	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		45	66	0	0	0	1	0	45	66				
SLC25A37	51312	broad.mit.edu	37	8	23423701	23423701	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23423701C>T	ENST00000519973.1	+	2	489	c.291C>T	c.(289-291)acC>acT	p.T97T	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	97					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TCATGCGGACCGAAGGCTTCT	0.532																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(289-291)acC>acT		solute carrier family 25 (mitochondrial iron transporter), member 37							56.0	53.0	54.0					8																	23423701		1890	4110	6000	SO:0001819	synonymous_variant	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423701C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.291C>T	8.37:g.23423701C>T						SLC25A37_ENST00000517923.1_3'UTR	p.T97T	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	489	+		Prostate(55;0.114)	97					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	ENST00000519973.1	37	c.291C>T	CCDS47828.1																																																																																				0.532	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		16	21	0	0	0	1	0	16	21				
ZNF226	7769	broad.mit.edu	37	19	44680182	44680182	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44680182A>G	ENST00000590089.1	+	7	1134	c.767A>G	c.(766-768)gAg>gGg	p.E256G	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E256G|ZNF226_ENST00000337433.5_Missense_Mutation_p.E256G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGTAATGAGTGTAAAAAA	0.383																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(766-768)gAg>gGg		zinc finger protein 226							78.0	76.0	76.0					19																	44680182		1954	4159	6113	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680182A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.767A>G	19.37:g.44680182A>G	ENSP00000465121:p.Glu256Gly					ZNF226_ENST00000337433.5_Missense_Mutation_p.E256G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.E256G	p.E256G			Q9NYT6	ZN226_HUMAN			7	1134	+		Prostate(69;0.0352)|all_neural(266;0.202)	256					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.767A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	A	5.161	0.215222	0.09810	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.50548	0.74;0.74	3.67	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.543741	0.13834	N	0.359502	T	0.42630	0.1211	M	0.73372	2.23	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.41215	-0.9521	10	0.52906	T	0.07	.	4.9584	0.14054	0.5216:0.1627:0.0:0.3157	.	256	Q9NYT6	ZN226_HUMAN	G	256	ENSP00000336719:E256G;ENSP00000393265:E256G	ENSP00000336719:E256G	E	+	2	0	ZNF226	49372022	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	-0.065000	0.11617	0.107000	0.17824	-0.301000	0.09380	GAG		0.383	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			14	29	0	0	0	1	0	14	29				
ELOVL6	79071	broad.mit.edu	37	4	110972738	110972738	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110972738G>A	ENST00000394607.3	-	5	717	c.554C>T	c.(553-555)gCg>gTg	p.A185V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A185V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	185					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GAAACCTGCCGCCCGCAAGGC	0.527																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(553-555)gCg>gTg		ELOVL fatty acid elongase 6							68.0	60.0	63.0					4																	110972738		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972738G>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.554C>T	4.37:g.110972738G>A	ENSP00000378105:p.Ala185Val					ELOVL6_ENST00000302274.3_Missense_Mutation_p.A185V	p.A185V			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	717	-			185					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.554C>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815435	0.90790	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.26223	1.75;1.75	5.97	5.12	0.69794	.	0.239813	0.49305	D	0.000155	T	0.54046	0.1834	M	0.84156	2.68	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.61008	-0.7149	10	0.54805	T	0.06	-11.8924	16.6339	0.85041	0.0:0.0:0.869:0.131	.	185	Q9H5J4	ELOV6_HUMAN	V	185	ENSP00000378105:A185V;ENSP00000304736:A185V	ENSP00000304736:A185V	A	-	2	0	ELOVL6	111192187	1.000000	0.71417	0.736000	0.30914	0.829000	0.46940	9.775000	0.98995	1.512000	0.48834	0.655000	0.94253	GCG		0.527	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		19	20	0	0	0	1	0	19	20				
MEGF10	84466	broad.mit.edu	37	5	126781226	126781226	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:126781226G>A	ENST00000274473.6	+	21	2836	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	MEGF10_ENST00000503335.2_Missense_Mutation_p.G857R|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	857	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTACCAGATCGGGGCCATTGC	0.433																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2569-2571)Ggg>Agg		multiple EGF-like-domains 10							165.0	153.0	157.0					5																	126781226		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126781226G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2569G>A	5.37:g.126781226G>A	ENSP00000274473:p.Gly857Arg					MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.G857R	p.G857R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	21	2836	+		Prostate(80;0.165)	857			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2569G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020354	0.93462	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	D;D	0.82526	-1.62;-1.62	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.88297	0.2947	10	0.30854	T	0.27	-12.9308	19.7775	0.96400	0.0:0.0:1.0:0.0	.	857	Q96KG7	MEG10_HUMAN	R	857	ENSP00000423354:G857R;ENSP00000274473:G857R	ENSP00000274473:G857R	G	+	1	0	MEGF10	126809125	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.827000	0.99397	2.681000	0.91329	0.563000	0.77884	GGG		0.433	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		35	55	0	0	0	1	0	35	55				
DNER	92737	broad.mit.edu	37	2	230456385	230456385	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230456385G>T	ENST00000341772.4	-	2	630	c.496C>A	c.(496-498)Ctg>Atg	p.L166M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	166					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GAGCGAGGCAGGATTTTGTCA	0.552																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(496-498)Ctg>Atg		delta/notch-like EGF repeat containing							91.0	80.0	84.0					2																	230456385		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456385G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.496C>A	2.37:g.230456385G>T	ENSP00000345229:p.Leu166Met						p.L166M	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	630	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	166					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.496C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824737	0.32237	.	.	ENSG00000187957	ENST00000341772	D	0.86432	-2.12	5.69	1.65	0.23941	.	0.765712	0.12162	N	0.493870	T	0.78559	0.4302	N	0.24115	0.695	0.09310	N	1	P	0.43169	0.8	B	0.41723	0.365	T	0.67833	-0.5568	10	0.51188	T	0.08	.	8.6474	0.34013	0.1153:0.3569:0.5278:0.0	.	166	Q8NFT8	DNER_HUMAN	M	166	ENSP00000345229:L166M	ENSP00000345229:L166M	L	-	1	2	DNER	230164629	0.076000	0.21285	0.003000	0.11579	0.116000	0.19942	0.767000	0.26575	0.671000	0.31185	0.655000	0.94253	CTG		0.552	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		10	18	1	0	1.58986e-06	1	1.65464e-06	10	18				
CCR1	1230	broad.mit.edu	37	3	46244868	46244868	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46244868G>A	ENST00000296140.3	-	2	1062	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	313					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AACAACTGCCGCAGGTACTTC	0.597																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(937-939)Cgg>Tgg		chemokine (C-C motif) receptor 1							92.0	78.0	83.0					3																	46244868		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244868G>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.937C>T	3.37:g.46244868G>A	ENSP00000296140:p.Arg313Trp					CCR3_ENST00000357422.2_Intron	p.R313W	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1062	-			313					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.937C>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	G	3.293	-0.144576	0.06627	.	.	ENSG00000163823	ENST00000296140	T	0.40225	1.04	5.41	2.62	0.31277	.	0.378699	0.25958	N	0.027212	T	0.44286	0.1286	M	0.82923	2.615	0.09310	N	1	B	0.18461	0.028	B	0.17979	0.02	T	0.40251	-0.9573	10	0.36615	T	0.2	.	10.5098	0.44855	0.275:0.0:0.725:0.0	.	313	P32246	CCR1_HUMAN	W	313	ENSP00000296140:R313W	ENSP00000296140:R313W	R	-	1	2	CCR1	46219872	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.513000	0.06305	0.777000	0.33496	0.561000	0.74099	CGG		0.597	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		16	11	0	0	0	1	0	16	11				
CEMP1	752014	broad.mit.edu	37	16	2581028	2581028	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2581028C>T	ENST00000567119.1	-	1	381	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	CEMP1_ENST00000382350.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.C16Y	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	16						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGAGGTTGAGCATCGCCTGTG	0.617																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(46-48)tGc>tAc		cementum protein 1							36.0	40.0	39.0					16																	2581028		2106	4227	6333	SO:0001583	missense	752014					cytoplasm		g.chr16:2581028C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.47G>A	16.37:g.2581028C>T	ENSP00000457380:p.Cys16Tyr					CEMP1_ENST00000567119.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.C16Y|AMDHD2_ENST00000565570.1_3'UTR	p.C16Y			Q6PRD7	CEMP1_HUMAN			1	392	-			16					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.47G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476793	0.04414	.	.	ENSG00000205923	ENST00000382350	T	0.56275	0.47	0.999	0.999	0.19862	.	.	.	.	.	T	0.45975	0.1369	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.68039	0.955	T	0.27331	-1.0077	9	0.87932	D	0	.	5.3539	0.16050	0.0:1.0:0.0:0.0	.	16	Q6PRD7	CEMP1_HUMAN	Y	16	ENSP00000371787:C16Y	ENSP00000371787:C16Y	C	-	2	0	CEMP1	2521029	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.526000	0.06207	0.857000	0.35407	0.561000	0.74099	TGC		0.617	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		20	45	0	0	0	1	0	20	45				
DLL1	28514	broad.mit.edu	37	6	170594658	170594658	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170594658C>A	ENST00000366756.3	-	6	1194	c.861G>T	c.(859-861)caG>caT	p.Q287H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	287					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AAGGCTTACCCTGGTTGCAGA	0.577																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.e6+1		delta-like 1 (Drosophila)							51.0	60.0	57.0					6																	170594658		2203	4300	6503	SO:0001630	splice_region_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594658C>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.862+1G>T	6.37:g.170594658C>A							p.Q287_splice	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1194	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	287					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Splice_Site	SNP	ENST00000366756.3	37	c.862_splice	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117533	0.56505	.	.	ENSG00000198719	ENST00000366756	T	0.07216	3.21	5.08	0.0374	0.14196	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.52759	1.655	0.58432	D	0.999993	D	0.54397	0.966	P	0.50934	0.654	T	0.18116	-1.0347	10	0.56958	D	0.05	.	10.2575	0.43405	0.0:0.5095:0.0:0.4905	.	287	O00548	DLL1_HUMAN	H	287	ENSP00000355718:Q287H	ENSP00000355718:Q287H	Q	-	3	2	DLL1	170436583	0.847000	0.29606	0.996000	0.52242	0.843000	0.47879	-0.066000	0.11598	-0.051000	0.13334	-0.251000	0.11542	CAG		0.577	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		Missense_Mutation	16	27	1	0	1.33834e-09	1	1.42249e-09	16	27				
FZD4	8322	broad.mit.edu	37	11	86662967	86662967	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:86662967C>T	ENST00000531380.1	-	2	1136	c.831G>A	c.(829-831)cgG>cgA	p.R277R	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	277					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATATCCTTTCCCGGCCTACAG	0.408																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(829-831)cgG>cgA		frizzled family receptor 4							34.0	35.0	34.0					11																	86662967		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662967C>T	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.831G>A	11.37:g.86662967C>T						PRSS23_ENST00000533902.2_3'UTR	p.R277R	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1136	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	277					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.831G>A	CCDS8279.1																																																																																				0.408	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		15	14	0	0	0	1	0	15	14				
DSG2	1829	broad.mit.edu	37	18	29126255	29126255	+	Missense_Mutation	SNP	C	C	A	rs373598034	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29126255C>A	ENST00000261590.8	+	15	3115	c.2906C>A	c.(2905-2907)gCt>gAt	p.A969D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	969					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGGGTGTATGCTCCAGCTTCT	0.498																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2905-2907)gCt>gAt		desmoglein 2							108.0	110.0	109.0					18																	29126255		1987	4167	6154	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126255C>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2906C>A	18.37:g.29126255C>A	ENSP00000261590:p.Ala969Asp					RP11-75N4.2_ENST00000583706.1_RNA	p.A969D	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3115	+			969					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2906C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060370	0.55432	.	.	ENSG00000046604	ENST00000261590	T	0.76448	-1.02	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000016	D	0.85729	0.5764	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.86477	0.1789	10	0.87932	D	0	.	14.781	0.69766	0.0:0.8562:0.1438:0.0	.	969	Q14126	DSG2_HUMAN	D	969	ENSP00000261590:A969D	ENSP00000261590:A969D	A	+	2	0	DSG2	27380253	0.860000	0.29831	0.274000	0.24659	0.414000	0.31173	2.581000	0.46077	2.840000	0.97914	0.655000	0.94253	GCT		0.498	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		23	30	1	0	3.10358e-05	1	3.20141e-05	23	30				
MYLK	4638	broad.mit.edu	37	3	123426765	123426765	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123426765G>A	ENST00000475616.1	-	13	2225	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000360772.3_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2224-2226)tgC>tgT		myosin light chain kinase							58.0	50.0	53.0					3																	123426765		2203	4299	6502	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123426765G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2226C>T	3.37:g.123426765G>A						MYLK_ENST00000346322.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000475616.1_Silent_p.C742C	p.C742C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	17	2604	-		Lung NSC(201;0.0496)	742			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2226C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		12	15	0	0	0	1	0	12	15				
GRK6	2870	broad.mit.edu	37	5	176860983	176860983	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176860983C>T	ENST00000355472.5	+	9	975	c.807C>T	c.(805-807)ggC>ggT	p.G269G	GRK6_ENST00000355958.5_Silent_p.G269G|GRK6_ENST00000528793.1_Silent_p.G269G|GRK6_ENST00000393576.3_Intron|GRK6_ENST00000507633.1_Silent_p.G269G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACGGGGGCGACCTCAAGT	0.657																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(805-807)ggC>ggT		G protein-coupled receptor kinase 6							78.0	55.0	63.0					5																	176860983		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860983C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.807C>T	5.37:g.176860983C>T						GRK6_ENST00000355958.5_Silent_p.G269G|GRK6_ENST00000528793.1_Silent_p.G269G|GRK6_ENST00000393576.3_Intron|GRK6_ENST00000507633.1_Silent_p.G269G	p.G269G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	975	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	269			Protein kinase.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.807C>T	CCDS34303.1																																																																																				0.657	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		9	15	0	0	0	1	0	9	15				
KIAA0319	9856	broad.mit.edu	37	6	24547556	24547556	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24547556C>T	ENST00000378214.3	-	21	3580	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1019N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S974N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S1010N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S958N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1019					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGCTCTGTGCTTCGGTGCTT	0.512																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(3028-3030)aGc>aAc		KIAA0319							129.0	115.0	119.0					6																	24547556		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24547556C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3056G>A	6.37:g.24547556C>T	ENSP00000367459:p.Ser1019Asn					KIAA0319_ENST00000378214.3_Missense_Mutation_p.S1019N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.S974N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1019N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S958N	p.S1010N	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			22	3671	-			1019					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.3029G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519320	0.64634	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13307	2.6;3.05;3.07;3.05;3.05	4.76	4.76	0.60689	.	0.177579	0.47093	D	0.000258	T	0.18964	0.0455	L	0.47716	1.5	0.47778	D	0.999515	D;D;D	0.59357	0.959;0.985;0.974	P;P;P	0.58873	0.714;0.847;0.707	T	0.00728	-1.1591	10	0.45353	T	0.12	-11.897	17.9513	0.89053	0.0:1.0:0.0:0.0	.	958;1010;1019	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	958;1010;974;1019;1019	ENSP00000439700:S958N;ENSP00000442403:S1010N;ENSP00000401086:S974N;ENSP00000367459:S1019N;ENSP00000437656:S1019N	ENSP00000367459:S1019N	S	-	2	0	KIAA0319	24655535	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.283000	0.72646	2.451000	0.82905	0.655000	0.94253	AGC		0.512	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		13	30	0	0	0	1	0	13	30				
FLNB	2317	broad.mit.edu	37	3	58064443	58064443	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58064443G>A	ENST00000295956.4	+	3	706		c.e3-1		FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTGTTAACAGGTCTGTGCCC	0.473																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e3-1		filamin B, beta							52.0	51.0	51.0					3																	58064443		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58064443G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.542-1G>A	3.37:g.58064443G>A						FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	3	706	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657874	0.67586	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58039483	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.813000	0.99286	2.724000	0.93272	0.563000	0.77884	.		0.473	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	11	16	0	0	0	1	0	11	16				
RADIL	55698	broad.mit.edu	37	7	4856948	4856948	+	Silent	SNP	C	C	T	rs372659155		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4856948C>T	ENST00000399583.3	-	7	1837	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	RADIL_ENST00000538469.1_Silent_p.T310T|RADIL_ENST00000536091.1_Missense_Mutation_p.G497S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	550	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCGCTGGCCGTCAGCGTGC	0.637																																						ENST00000536091.1																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1489-1491)Ggc>Agc		Ras association and DIL domains		C		0,4402		0,0,2201	50.0	54.0	53.0		1650	-1.9	1.0	7		53	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	RADIL	NM_018059.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		550/1076	4856948	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4856948C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1650G>A	7.37:g.4856948C>T						RADIL_ENST00000538469.1_Silent_p.T310T|RADIL_ENST00000399583.3_Silent_p.T550T	p.G497S			Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	6	1621	-		Ovarian(82;0.0175)	882			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1489G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686946	0.29962	0.0	1.16E-4	ENSG00000157927	ENST00000536091	T	0.25250	1.81	5.7	-1.93	0.07594	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.24232	N	0.995393	.	.	.	.	.	.	T	0.43130	-0.9410	6	0.87932	D	0	-24.319	12.089	0.53715	0.0:0.5129:0.0:0.4871	.	.	.	.	S	497	ENSP00000442533:G497S	ENSP00000442533:G497S	G	-	1	0	RADIL	4823474	0.487000	0.25988	0.989000	0.46669	0.489000	0.33432	-0.235000	0.09016	-0.211000	0.10124	-0.461000	0.05368	GGC		0.637	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		10	21	0	0	0	1	0	10	21				
ASPN	54829	broad.mit.edu	37	9	95228839	95228839	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95228839G>A	ENST00000375544.3	-	4	645	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ASPN_ENST00000375543.1_Silent_p.N134N|ASPN_ENST00000395538.3_Silent_p.N134N|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	134					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GCTTGTTGTTGTTCAGGATCA	0.383																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(400-402)aaC>aaT		asporin							193.0	183.0	186.0					9																	95228839		2203	4300	6503	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228839G>A	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.402C>T	9.37:g.95228839G>A						ASPN_ENST00000395538.3_Silent_p.N134N|ASPN_ENST00000375543.1_Silent_p.N134N|CENPP_ENST00000375587.3_Intron	p.N134N	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			4	645	-			134					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.402C>T																																																																																					0.383	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		27	77	0	0	0	1	0	27	77				
EFNA2	1943	broad.mit.edu	37	19	1295701	1295701	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1295701G>A	ENST00000215368.2	+	2	313	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	100	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGGCCACGCCTCCTGCGA	0.687																																						ENST00000215368.2																			0				lung(2)	2						c.(298-300)Gcc>Acc		ephrin-A2							17.0	16.0	16.0					19																	1295701		2197	4294	6491	SO:0001583	missense	1943				cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding	g.chr19:1295701G>A		CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"""Ephrins"""	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.298G>A	19.37:g.1295701G>A	ENSP00000215368:p.Ala100Thr					MUM1_ENST00000344663.3_Intron	p.A100T	NM_001405.3	NP_001396.2	O43921	EFNA2_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)	2	313	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	100					O76020	Missense_Mutation	SNP	ENST00000215368.2	37	c.298G>A	CCDS12061.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238825	0.39598	.	.	ENSG00000099617	ENST00000215368	T	0.41758	0.99	3.82	2.66	0.31614	Cupredoxin (2);	0.369443	0.27031	U	0.021274	T	0.28863	0.0716	L	0.28458	0.855	0.37903	D	0.931126	B	0.27679	0.185	B	0.24155	0.051	T	0.30060	-0.9991	10	0.44086	T	0.13	.	10.9691	0.47428	0.0:0.0:0.8124:0.1876	.	100	O43921	EFNA2_HUMAN	T	100	ENSP00000215368:A100T	ENSP00000215368:A100T	A	+	1	0	EFNA2	1246701	0.964000	0.33143	1.000000	0.80357	0.997000	0.91878	2.205000	0.42770	1.836000	0.53414	0.478000	0.44815	GCC		0.687	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450016.1	NM_001405		8	14	0	0	0	1	0	8	14				
DENND4A	10260	broad.mit.edu	37	15	66030196	66030196	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66030196C>T	ENST00000431932.2	-	7	1097	c.889G>A	c.(889-891)Gca>Aca	p.A297T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A297T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	297					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTCCCATCTGCTGATGTTAAA	0.383																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(889-891)Gca>Aca		DENN/MADD domain containing 4A							68.0	62.0	64.0					15																	66030196		1836	4094	5930	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66030196C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.889G>A	15.37:g.66030196C>T	ENSP00000396830:p.Ala297Thr					DENND4A_ENST00000431932.2_Missense_Mutation_p.A297T	p.A297T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			7	1104	-			297					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.889G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565379	0.27915	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05139	3.5;3.49	5.29	3.38	0.38709	.	0.575725	0.18143	N	0.150343	T	0.04952	0.0133	N	0.24115	0.695	0.23862	N	0.996633	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38156	-0.9674	10	0.21014	T	0.42	.	12.1679	0.54141	0.0:0.8509:0.0:0.1491	.	297;297;297	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	297	ENSP00000391167:A297T;ENSP00000396830:A297T	ENSP00000396830:A297T	A	-	1	0	DENND4A	63817250	0.000000	0.05858	0.813000	0.32504	0.996000	0.88848	0.897000	0.28390	1.374000	0.46228	0.591000	0.81541	GCA		0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		5	5	0	0	0	1	0	5	5				
SLC22A15	55356	broad.mit.edu	37	1	116569517	116569517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:116569517C>T	ENST00000369503.4	+	5	732	c.602C>T	c.(601-603)tCg>tTg	p.S201L	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	201					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S201L(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATTAGGATCGATTGGCGGC	0.498																																						ENST00000369503.4																			2	Substitution - Missense(2)	p.S201L(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(601-603)tCg>tTg		solute carrier family 22, member 15							224.0	208.0	213.0					1																	116569517		1962	4135	6097	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569517C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.602C>T	1.37:g.116569517C>T	ENSP00000358515:p.Ser201Leu					SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	732	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	201					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.602C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698299	0.68386	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.11	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054615	0.85682	D	0.000000	T	0.64427	0.2597	L	0.31845	0.965	0.54753	D	0.999987	P;D	0.54964	0.66;0.969	B;B	0.44085	0.252;0.44	T	0.66404	-0.5932	10	0.38643	T	0.18	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	201;201	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	L	201	ENSP00000358515:S201L;ENSP00000358514:S201L	ENSP00000358514:S201L	S	+	2	0	SLC22A15	116371040	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.400000	0.66320	2.710000	0.92621	0.563000	0.77884	TCG		0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		51	76	0	0	0	1	0	51	76				
COL22A1	169044	broad.mit.edu	37	8	139611048	139611048	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:139611048G>T	ENST00000303045.6	-	61	4725	c.4279C>A	c.(4279-4281)Ctg>Atg	p.L1427M	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1407M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1427	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCATCAGGCCTGTGTGG	0.597										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4279-4281)Ctg>Atg		collagen, type XXII, alpha 1							65.0	64.0	64.0					8																	139611048		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611048G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4279C>A	8.37:g.139611048G>T	ENSP00000303153:p.Leu1427Met	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1407M	p.L1427M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4725	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1427			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4279C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257346	0.39896	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93426	-3.22;-3.22	5.61	4.63	0.57726	.	0.289177	0.19381	U	0.115654	D	0.89715	0.6795	N	0.12182	0.205	0.30914	N	0.728809	P;P	0.45594	0.862;0.476	P;B	0.54499	0.754;0.326	D	0.86427	0.1758	10	0.42905	T	0.14	.	8.2483	0.31702	0.2008:0.0:0.7992:0.0	.	1407;1427	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	M	1427;1407;1120	ENSP00000303153:L1427M;ENSP00000387655:L1407M	ENSP00000303153:L1427M	L	-	1	2	COL22A1	139680230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.254000	0.43214	2.638000	0.89438	0.650000	0.86243	CTG		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	24	1	0	1.3612e-06	1	1.41782e-06	16	24				
SYNE1	23345	broad.mit.edu	37	6	152674874	152674874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152674874C>T	ENST00000367255.5	-	68	11533	c.10932G>A	c.(10930-10932)tgG>tgA	p.W3644*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W3644*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W3615*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W3629*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3644					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTTCGTGCCACTTCTGAA	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(10930-10932)tgG>tgA		spectrin repeat containing, nuclear envelope 1							129.0	116.0	121.0					6																	152674874		2203	4300	6503	SO:0001587	stop_gained	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.chr6:152674874C>T	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.10932G>A	6.37:g.152674874C>T	ENSP00000356224:p.Trp3644*	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W3615*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W3629*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W3644*	p.W3644*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	68	11533	-		Ovarian(120;0.0955)	3644					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.10932G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	55	24.553214	0.99961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	3644;3629;3644;3629;3615	.	ENSP00000265368:W3644X	W	-	3	0	SYNE1	152716567	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.490000	0.60319	2.716000	0.92895	0.655000	0.94253	TGG		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		26	49	0	0	0	1	0	26	49				
OIT3	170392	broad.mit.edu	37	10	74673183	74673183	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74673183T>C	ENST00000334011.5	+	6	1126	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	303	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGCACCCATGTCAACATCCTC	0.547																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(907-909)gTc>gCc		oncoprotein induced transcript 3							131.0	111.0	118.0					10																	74673183		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74673183T>C		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.908T>C	10.37:g.74673183T>C	ENSP00000333900:p.Val303Ala						p.V303A	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1126	+	Prostate(51;0.0198)		303			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.908T>C	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252881	0.80135	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.82255	-1.59	5.95	5.95	0.96441	Zona pellucida sperm-binding protein (3);	0.115539	0.36854	N	0.002365	D	0.83806	0.5334	M	0.71036	2.16	0.54753	D	0.999984	P	0.39044	0.656	B	0.42495	0.389	T	0.81226	-0.1029	10	0.17832	T	0.49	-27.6602	16.4237	0.83790	0.0:0.0:0.0:1.0	.	303	Q8WWZ8	OIT3_HUMAN	A	303	ENSP00000333900:V303A	ENSP00000333900:V303A	V	+	2	0	OIT3	74343189	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	7.739000	0.84976	2.279000	0.76181	0.533000	0.62120	GTC		0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		26	38	0	0	0	1	0	26	38				
RNF32	140545	broad.mit.edu	37	7	156437440	156437440	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156437440C>T	ENST00000405335.1	+	4	672	c.263C>T	c.(262-264)cCg>cTg	p.P88L	RNF32_ENST00000343665.4_Missense_Mutation_p.P88L|RNF32_ENST00000432459.2_Missense_Mutation_p.P88L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.P88L|RNF32_ENST00000311822.8_Missense_Mutation_p.P88L|RNF32_ENST00000392740.1_Missense_Mutation_p.P88L|RNF32_ENST00000392741.2_Missense_Mutation_p.P88L|RNF32_ENST00000317955.5_Missense_Mutation_p.P88L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	88						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAACCGCCGCCGTTGACTTTG	0.343																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(262-264)cCg>cTg		ring finger protein 32							64.0	69.0	67.0					7																	156437440		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437440C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.263C>T	7.37:g.156437440C>T	ENSP00000385285:p.Pro88Leu					RNF32_ENST00000343665.4_Missense_Mutation_p.P88L|RNF32_ENST00000311822.8_Missense_Mutation_p.P88L|RNF32_ENST00000432459.2_Missense_Mutation_p.P88L|RNF32_ENST00000317955.5_Missense_Mutation_p.P88L|RNF32_ENST00000405335.1_Missense_Mutation_p.P88L|RNF32_ENST00000392740.1_Missense_Mutation_p.P88L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.P88L	p.P88L			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	351	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	88					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.263C>T	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331851	0.24167	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;1.78	5.17	4.28	0.50868	.	0.224693	0.46145	D	0.000317	D	0.95326	0.8483	M	0.81341	2.54	0.25656	N	0.986058	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.75020	0.873;0.985;0.977;0.956	D	0.89625	0.3851	10	0.72032	D	0.01	-10.4956	10.6689	0.45747	0.2614:0.6122:0.1264:0.0	.	88;88;88;88	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	L	88	ENSP00000385815:P88L;ENSP00000405588:P88L;ENSP00000315950:P88L;ENSP00000385285:P88L;ENSP00000308894:P88L;ENSP00000376499:P88L;ENSP00000376497:P88L;ENSP00000341185:P88L	ENSP00000308894:P88L	P	+	2	0	RNF32	156130201	0.376000	0.25098	0.009000	0.14445	0.001000	0.01503	1.937000	0.40193	1.153000	0.42468	-0.181000	0.13052	CCG		0.343	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		27	53	0	0	0	1	0	27	53				
ALDH1A1	216	broad.mit.edu	37	9	75531836	75531836	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:75531836C>A	ENST00000297785.3	-	9	1089	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	345					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTATACTTACCTGAGGGCCTT	0.398																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.e9+1		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						80.0	72.0	75.0					9																	75531836		2203	4300	6503	SO:0001630	splice_region_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75531836C>A	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1035+1G>T	9.37:g.75531836C>A							p.Q345_splice	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			9	1089	-			345					O00768|Q5SYR1	Splice_Site	SNP	ENST00000297785.3	37	c.1035_splice	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062963	0.76187	.	.	ENSG00000165092	ENST00000297785	T	0.76316	-1.01	5.96	5.04	0.67666	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	M	0.87547	2.89	0.80722	D	1	B;B	0.28783	0.222;0.042	B;B	0.41666	0.363;0.141	T	0.81731	-0.0799	9	.	.	.	.	11.2102	0.48793	0.0:0.8359:0.0:0.1641	.	266;345	B4DDF8;P00352	.;AL1A1_HUMAN	H	345	ENSP00000297785:Q345H	.	Q	-	3	2	ALDH1A1	74721656	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.614000	0.54160	1.464000	0.47987	0.655000	0.94253	CAG		0.398	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		Missense_Mutation	4	58	1	0	0.000602214	1	0.000612743	4	58				
KIAA1109	84162	broad.mit.edu	37	4	123227142	123227142	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123227142T>C	ENST00000264501.4	+	57	10156	c.9783T>C	c.(9781-9783)gcT>gcC	p.A3261A	KIAA1109_ENST00000388738.3_Silent_p.A3261A|KIAA1109_ENST00000455637.1_Silent_p.A3261A			Q2LD37	K1109_HUMAN	KIAA1109	3261					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATAGGGAAGCTGTGCTTATTA	0.388																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(9781-9783)gcT>gcC		KIAA1109							148.0	144.0	145.0					4																	123227142		1848	4082	5930	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123227142T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9783T>C	4.37:g.123227142T>C						KIAA1109_ENST00000455637.1_Silent_p.A3261A|KIAA1109_ENST00000388738.3_Silent_p.A3261A	p.A3261A			Q2LD37	K1109_HUMAN			57	10156	+			3261					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.9783T>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226434	0.22542	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.39	0.105	0.14535	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34054	-0.9844	4	.	.	.	.	4.8988	0.13764	0.1254:0.2809:0.0:0.5937	.	.	.	.	R	1219	.	.	C	+	1	0	KIAA1109	123446592	0.259000	0.24043	0.997000	0.53966	0.997000	0.91878	-0.433000	0.06948	-0.173000	0.10761	0.482000	0.46254	TGT		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		25	106	0	0	0	1	0	25	106				
RALGAPA1	253959	broad.mit.edu	37	14	36103833	36103833	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:36103833G>T	ENST00000389698.3	-	32	4814	c.4424C>A	c.(4423-4425)cCt>cAt	p.P1475H	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1522H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1488H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1475H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1475	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAGTGCAGAGGCTCAGGCTC	0.418																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4564-4566)cCt>cAt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							81.0	76.0	77.0					14																	36103833		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36103833G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4424C>A	14.37:g.36103833G>T	ENSP00000374348:p.Pro1475His					RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1488H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1475H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1475H	p.P1522H			Q6GYQ0	RGPA1_HUMAN			33	4955	-			1475			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4565C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523310	0.85600	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.72894	2.215	0.58432	D	0.999995	D;D;P;D	0.89917	1.0;1.0;0.675;0.998	D;D;P;D	0.97110	1.0;0.989;0.468;0.959	T	0.49173	-0.8967	10	0.30854	T	0.27	-16.9603	19.5007	0.95093	0.0:0.0:1.0:0.0	.	1522;1488;1475;1475	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1475;1475;1475;1522;113;1488;1522	ENSP00000374348:P1475H;ENSP00000302647:P1475H;ENSP00000258840:P1522H;ENSP00000451133:P113H;ENSP00000371803:P1488H;ENSP00000451877:P1522H	ENSP00000258840:P1522H	P	-	2	0	RALGAPA1	35173584	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.173000	0.94815	2.673000	0.90976	0.650000	0.86243	CCT		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		21	26	1	0	6.44725e-10	1	6.8705e-10	21	26				
EPHA1	2041	broad.mit.edu	37	7	143091383	143091383	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143091383G>T	ENST00000275815.3	-	15	2492	c.2406C>A	c.(2404-2406)atC>atA	p.I802I	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGTGGTGAAGATCCGATGGG	0.547																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2404-2406)atC>atA		EPH receptor A1							156.0	130.0	139.0					7																	143091383		2203	4300	6503	SO:0001819	synonymous_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143091383G>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2406C>A	7.37:g.143091383G>T							p.I802I	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			15	2492	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	802			Protein kinase.		A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	c.2406C>A	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			16	27	1	0	1.02788e-11	1	1.10723e-11	16	27				
EBF2	64641	broad.mit.edu	37	8	25716010	25716010	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25716010G>A	ENST00000520164.1	-	14	1890	c.1353C>T	c.(1351-1353)cgC>cgT	p.R451R	EBF2_ENST00000535548.1_Silent_p.R182R|EBF2_ENST00000408929.3_Silent_p.R303R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	451					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGCTTGTGTTGCGGATGTACC	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1351-1353)cgC>cgT		early B-cell factor 2							120.0	120.0	120.0					8																	25716010		2044	4193	6237	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25716010G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1353C>T	8.37:g.25716010G>A						EBF2_ENST00000408929.3_Silent_p.R303R|EBF2_ENST00000535548.1_Silent_p.R182R	p.R451R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1890	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	451					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.1353C>T	CCDS43726.1																																																																																				0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		22	24	0	0	0	1	0	22	24				
ARNTL2	56938	broad.mit.edu	37	12	27533279	27533279	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27533279T>C	ENST00000266503.5	+	5	444	c.426T>C	c.(424-426)cgT>cgC	p.R142R	ARNTL2_ENST00000544915.1_Silent_p.R108R|ARNTL2_ENST00000546179.1_Silent_p.R105R|ARNTL2_ENST00000261178.5_Silent_p.R94R|ARNTL2_ENST00000395901.2_Silent_p.R105R|ARNTL2_ENST00000311001.5_Silent_p.R128R|ARNTL2_ENST00000542388.1_Silent_p.R57R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCATGGCGCGTAAACTGGACA	0.418																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(322-324)cgT>cgC		aryl hydrocarbon receptor nuclear translocator-like 2							129.0	116.0	120.0					12																	27533279		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27533279T>C	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.426T>C	12.37:g.27533279T>C						ARNTL2_ENST00000266503.5_Silent_p.R142R|ARNTL2_ENST00000395901.2_Silent_p.R105R|ARNTL2_ENST00000261178.5_Silent_p.R94R|ARNTL2_ENST00000542388.1_Silent_p.R57R|ARNTL2_ENST00000546179.1_Silent_p.R105R|ARNTL2_ENST00000311001.5_Silent_p.R128R	p.R108R	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			4	543	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		142					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.324T>C	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104554	0.20632	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.33	-5.7	0.02421	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	.	0.582	0.00713	0.206:0.1941:0.1875:0.4124	.	.	.	.	A	94	.	.	V	+	2	0	ARNTL2	27424546	0.000000	0.05858	0.064000	0.19789	0.978000	0.69477	-3.439000	0.00470	-1.083000	0.03097	0.533000	0.62120	GTA		0.418	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		42	47	0	0	0	1	0	42	47				
PRKACA	5566	broad.mit.edu	37	19	14208433	14208433	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14208433G>A	ENST00000308677.4	-	7	796	c.600C>T	c.(598-600)tgC>tgT	p.C200C	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.C192C	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)	p.C200C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CAGGGGTGCCGCACAAGGTCC	0.637																																						ENST00000308677.4																			1	Substitution - coding silent(1)	p.C200C(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(598-600)tgC>tgT		protein kinase, cAMP-dependent, catalytic, alpha							46.0	49.0	48.0					19																	14208433		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208433G>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.600C>T	19.37:g.14208433G>A						PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.C192C|PRKACA_ENST00000350356.3_5'UTR	p.C200C	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			7	796	-			200			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.600C>T	CCDS12304.1																																																																																				0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		8	18	0	0	0	1	0	8	18				
SP2	6668	broad.mit.edu	37	17	45994483	45994483	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:45994483C>T	ENST00000376741.4	+	3	1183	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	349					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCAGCTGAGCCGACACCTACT	0.577																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1045-1047)cCg>cTg		Sp2 transcription factor							57.0	53.0	54.0					17																	45994483		2142	4216	6358	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994483C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1046C>T	17.37:g.45994483C>T	ENSP00000365931:p.Pro349Leu					AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	p.P349L	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	1183	+			349					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.1046C>T	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921223	0.33908	.	.	ENSG00000167182	ENST00000376741	T	0.11712	2.75	5.41	4.43	0.53597	.	0.480344	0.23506	N	0.047458	T	0.06280	0.0162	L	0.47716	1.5	0.52501	D	0.99995	P	0.45078	0.85	B	0.25614	0.062	T	0.31752	-0.9932	10	0.09084	T	0.74	.	9.5376	0.39231	0.1784:0.6813:0.1403:0.0	.	349	Q02086	SP2_HUMAN	L	349	ENSP00000365931:P349L	ENSP00000365931:P349L	P	+	2	0	SP2	43349482	0.974000	0.33945	0.783000	0.31826	0.963000	0.63663	3.683000	0.54663	1.457000	0.47850	0.563000	0.77884	CCG		0.577	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		21	44	0	0	0	1	0	21	44				
EDNRA	1909	broad.mit.edu	37	4	148453683	148453683	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:148453683C>T	ENST00000324300.5	+	4	1089	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.S149L|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	192					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CTCCTGGAGTCGTGTTCAGGG	0.408																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(574-576)Cgt>Tgt		endothelin receptor type A	Bosentan(DB00559)						161.0	151.0	154.0					4																	148453683		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148453683C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.574C>T	4.37:g.148453683C>T	ENSP00000315011:p.Arg192Cys					EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.S149L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Intron	p.R192C	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	4	1089	+	all_hematologic(180;0.151)		192					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.574C>T	CCDS3769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.272813|4.272813	0.80580|0.80580	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	T|D	0.43294|0.83075	0.95|-1.68	5.55|5.55	4.68|4.68	0.58851|0.58851	GPCR, rhodopsin-like superfamily (1);|.	0.049966|.	0.85682|.	D|.	0.000000|.	D|D	0.84302|0.84302	0.5442|0.5442	M|M	0.91561|0.91561	3.22|3.22	0.30451|0.30451	N|N	0.775231|0.775231	D|P	0.89917|0.44946	1.0|0.846	D|B	0.91635|0.30401	0.999|0.115	D|D	0.87194|0.87194	0.2236|0.2236	10|9	0.87932|0.72032	D|D	0|0.01	-13.9814|-13.9814	15.8177|15.8177	0.78615|0.78615	0.1364:0.8636:0.0:0.0|0.1364:0.8636:0.0:0.0	.|.	192|149	P25101|P25101-2	EDNRA_HUMAN|.	C|L	192|149	ENSP00000315011:R192C|ENSP00000341556:S149L	ENSP00000315011:R192C|ENSP00000341556:S149L	R|S	+|+	1|2	0|0	EDNRA|EDNRA	148673133|148673133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.851000|2.851000	0.48302|0.48302	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.408	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			56	72	0	0	0	1	0	56	72				
DCANP1	140947	broad.mit.edu	37	5	134785304	134785304	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134785304C>T	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.G109D|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCTGGATGCCTGAGAAGGA	0.577																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(325-327)gGc>gAc		TRAF-interacting protein with forkhead-associated domain, family member B							97.0	100.0	99.0					5																	134785304		2076	4215	6291	SO:0001631	upstream_gene_variant	497189							g.chr5:134785304C>T																													5.37:g.134785304C>T	Exception_encountered						p.G109D	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	526	-			109						Missense_Mutation	SNP	ENST00000503143.2	37	c.326G>A	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	2.208	-0.381314	0.05000	.	.	ENSG00000255833	ENST00000537858	T	0.39592	1.07	5.27	3.5	0.40072	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.284658	0.28659	U	0.014572	T	0.24547	0.0595	L	0.32530	0.975	0.09310	N	1	B	0.24882	0.113	B	0.20184	0.028	T	0.28933	-1.0028	10	0.02654	T	1	.	8.2498	0.31710	0.0:0.8295:0.0:0.1705	.	109	Q6ZNK6	TIFAB_HUMAN	D	109	ENSP00000440509:G109D	ENSP00000440509:G109D	G	-	2	0	TIFAB	134813203	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.883000	0.28200	0.619000	0.30197	0.563000	0.77884	GGC		0.577	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			5	85	0	0	0	1	0	5	85				
CCDC18	343099	broad.mit.edu	37	1	93672762	93672762	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93672762G>A	ENST00000343253.7	+	9	1518	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N	CCDC18_ENST00000557479.1_Missense_Mutation_p.S457N|CCDC18_ENST00000338949.4_Missense_Mutation_p.S138N|CCDC18_ENST00000401026.3_Missense_Mutation_p.S339N|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	339										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTAGACAAAGTATTTTGAAG	0.333																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1015-1017)aGt>aAt		coiled-coil domain containing 18							52.0	47.0	49.0					1																	93672762		1833	4080	5913	SO:0001583	missense	343099							g.chr1:93672762G>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1016G>A	1.37:g.93672762G>A	ENSP00000343377:p.Ser339Asn					CCDC18_ENST00000401026.3_Missense_Mutation_p.S339N|CCDC18_ENST00000338949.4_Missense_Mutation_p.S138N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.S457N	p.S339N			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1518	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	339					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1016G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.867|8.867	0.948291|0.948291	0.18356|0.18356	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15;2.15|.	5.83|5.83	-0.408|-0.408	0.12381|0.12381	.|.	0.449783|.	0.27549|.	N|.	0.018870|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.08055|.	0.0;0.003|.	T|T	0.05733|0.05733	-1.0867|-1.0867	10|5	0.12103|.	T|.	0.63|.	.|.	8.706|8.706	0.34354|0.34354	0.7307:0.0:0.2693:0.0|0.7307:0.0:0.2693:0.0	.|.	339;457|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|I	339;339;457;138;59|393	ENSP00000343377:S339N;ENSP00000383808:S339N;ENSP00000451099:S457N;ENSP00000344380:S138N;ENSP00000391151:S59N|.	ENSP00000344380:S138N|.	S|V	+|+	2|1	0|0	CCDC18|CCDC18	93445350|93445350	0.975000|0.975000	0.34042|0.34042	0.970000|0.970000	0.41538|0.41538	0.537000|0.537000	0.34900|0.34900	0.040000|0.040000	0.13905|0.13905	0.022000|0.022000	0.15160|0.15160	0.555000|0.555000	0.69702|0.69702	AGT|GTA		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		15	19	0	0	0	1	0	15	19				
GMIP	51291	broad.mit.edu	37	19	19746265	19746265	+	Missense_Mutation	SNP	C	C	T	rs146115077		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19746265C>T	ENST00000203556.4	-	15	1656	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	GMIP_ENST00000445806.2_Missense_Mutation_p.E478K|GMIP_ENST00000587238.1_Missense_Mutation_p.E481K|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	507					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCGCACTCGCGGCACTTG	0.632																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1519-1521)Gag>Aag		GEM interacting protein		C	LYS/GLU	0,4406		0,0,2203	91.0	82.0	85.0		1519	4.9	0.9	19	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMIP	NM_016573.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	507/971	19746265	1,13005	2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19746265C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1519G>A	19.37:g.19746265C>T	ENSP00000203556:p.Glu507Lys					GMIP_ENST00000587238.1_Missense_Mutation_p.E481K|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.E478K	p.E507K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			15	1656	-			507					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1519G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103933	0.76983	0.0	1.16E-4	ENSG00000089639	ENST00000203556;ENST00000445806	D;D	0.84070	-1.8;-1.8	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.151030	0.30602	N	0.009279	D	0.88966	0.6581	M	0.69358	2.11	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.985;0.999	D;P;D	0.63877	0.919;0.625;0.919	D	0.89500	0.3763	10	0.52906	T	0.07	-16.5884	15.5963	0.76583	0.0:1.0:0.0:0.0	.	478;481;507	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	K	507;478	ENSP00000203556:E507K;ENSP00000397075:E478K	ENSP00000203556:E507K	E	-	1	0	GMIP	19607265	1.000000	0.71417	0.894000	0.35097	0.819000	0.46315	5.644000	0.67902	2.267000	0.75376	0.561000	0.74099	GAG		0.632	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		14	30	0	0	0	1	0	14	30				
TTN	7273	broad.mit.edu	37	2	179613263	179613263	+	Intron	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179613263A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y4622H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGAGAATACATTTGTTTT	0.363																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13864-13866)Tat>Cat		titin							103.0	112.0	109.0					2																	179613263		2202	4298	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613263A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4587T>C	2.37:g.179613263A>G						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.Y4622H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14086	-			741			Ig-like 26.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13864T>C		.	.	.	.	.	.	.	.	.	.	A	12.30	1.898074	0.33535	.	.	ENSG00000155657	ENST00000360870	T	0.68331	-0.32	5.9	4.74	0.60224	.	.	.	.	.	T	0.53594	0.1806	L	0.29908	0.895	0.80722	D	1	B	0.18166	0.026	B	0.18561	0.022	T	0.41893	-0.9483	9	0.44086	T	0.13	.	10.5079	0.44845	0.823:0.0:0.177:0.0	.	4622	Q8WZ42-6	.	H	4622	ENSP00000354117:Y4622H	ENSP00000354117:Y4622H	Y	-	1	0	TTN	179321508	0.980000	0.34600	0.999000	0.59377	0.266000	0.26442	1.151000	0.31651	0.484000	0.27630	-1.162000	0.01777	TAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	76	0	0	0	1	0	43	76				
PDE3B	5140	broad.mit.edu	37	11	14840740	14840740	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:14840740T>G	ENST00000282096.4	+	7	2145	c.1792T>G	c.(1792-1794)Tgc>Ggc	p.C598G	PDE3B_ENST00000455098.2_Missense_Mutation_p.C547G	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	598					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TACAGATTGCTGCAGTGGAAA	0.299																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1792-1794)Tgc>Ggc		phosphodiesterase 3B, cGMP-inhibited							77.0	87.0	83.0					11																	14840740		2200	4293	6493	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14840740T>G	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1792T>G	11.37:g.14840740T>G	ENSP00000282096:p.Cys598Gly					PDE3B_ENST00000455098.2_Missense_Mutation_p.C547G	p.C598G	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			7	2145	+			598					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1792T>G	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	T	1.009	-0.688521	0.03328	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.60548	0.18;0.19	5.86	3.99	0.46301	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12837	0.008;0.005	T	0.19128	-1.0315	9	0.21014	T	0.42	.	10.1804	0.42963	0.0:0.8423:0.0:0.1577	.	547;598	B7ZM37;Q13370	.;PDE3B_HUMAN	G	598;547	ENSP00000282096:C598G;ENSP00000388644:C547G	ENSP00000282096:C598G	C	+	1	0	PDE3B	14797316	0.278000	0.24230	0.648000	0.29521	0.002000	0.02628	1.122000	0.31295	0.808000	0.34231	-0.472000	0.04984	TGC		0.299	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		4	84	0	0	0	1	0	4	84				
ULK2	9706	broad.mit.edu	37	17	19699557	19699557	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19699557A>T	ENST00000395544.4	-	19	2347	c.1848T>A	c.(1846-1848)tcT>tcA	p.S616S	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Silent_p.S616S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	616					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACAGGTTGGAAGATGCTTGAG	0.413																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1846-1848)tcT>tcA		unc-51 like autophagy activating kinase 2							88.0	84.0	86.0					17																	19699557		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19699557A>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1848T>A	17.37:g.19699557A>T						ULK2_ENST00000361658.2_Silent_p.S616S	p.S616S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			19	2347	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		616					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.1848T>A	CCDS11213.1																																																																																				0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		31	51	0	0	0	1	0	31	51				
BIRC3	330	broad.mit.edu	37	11	102195288	102195288	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:102195288C>T	ENST00000263464.3	+	2	2798	c.48C>T	c.(46-48)agC>agT	p.S16S	BIRC3_ENST00000532808.1_Silent_p.S16S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	16					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATGAAAAGCGCCAACACGT	0.403			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(46-48)agC>agT		baculoviral IAP repeat containing 3							126.0	115.0	119.0					11																	102195288		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195288C>T	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.48C>T	11.37:g.102195288C>T						BIRC3_ENST00000532808.1_Silent_p.S16S	p.S16S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2798	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	16					Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.48C>T	CCDS8315.1																																																																																				0.403	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		21	48	0	0	0	1	0	21	48				
TMEM199	147007	broad.mit.edu	37	17	26691899	26691899	+	IGR	SNP	G	G	A	rs201656992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26691899G>A	ENST00000292114.3	+	0	3148				VTN_ENST00000438614.1_Missense_Mutation_p.A62V|VTN_ENST00000431468.1_Missense_Mutation_p.A63V|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.2_ENST00000555059.2_Silent_p.G136G|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Missense_Mutation_p.A62V|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCTGCAAACGCCCTCTCCAG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18284	0.001		0.0	False		,,,				2504	0.0					ENST00000536498.1																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(184-186)gCg>gTg		SEBOX homeobox							64.0	76.0	72.0					17																	26691899		2187	4280	6467	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691899G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691899G>A						SEBOX_ENST00000438614.1_Missense_Mutation_p.A62V|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000431468.1_Missense_Mutation_p.A63V	p.A62V			Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	9	1582	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		63						Missense_Mutation	SNP	ENST00000292114.3	37	c.185C>T	CCDS11228.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.448	-0.895248	0.02491	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.95447	-3.71;-3.71;-3.71	5.14	1.45	0.22620	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.495017	0.16922	N	0.194025	D	0.87398	0.6167	N	0.16233	0.39	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.12837	0.008;0.008	T	0.75196	-0.3403	10	0.07030	T	0.85	.	9.1376	0.36883	0.7043:0.0:0.2957:0.0	.	63;62	Q9HB31;C9JDG5	SEBOX_HUMAN;.	V	63;62;62;67;88	ENSP00000416240:A63V;ENSP00000444503:A62V;ENSP00000395142:A62V	ENSP00000247029:A67V	A	-	2	0	VTN;CTB-96E2.2	23716026	0.975000	0.34042	0.830000	0.32933	0.049000	0.14656	1.379000	0.34340	0.096000	0.17463	-1.036000	0.02392	GCG		0.627	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		11	15	0	0	0	1	0	11	15				
GMPR	2766	broad.mit.edu	37	6	16254845	16254845	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:16254845G>A	ENST00000259727.4	+	4	458	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	115					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AAGATGACCAGCATCCTGGAA	0.448																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(343-345)aGc>aAc		guanosine monophosphate reductase							213.0	201.0	205.0					6																	16254845		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16254845G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.344G>A	6.37:g.16254845G>A	ENSP00000259727:p.Ser115Asn						p.S115N	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			4	458	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	115					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.344G>A	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941369	0.34283	.	.	ENSG00000137198	ENST00000259727	T	0.78481	-1.18	5.65	2.91	0.33838	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.455245	0.29192	N	0.012872	T	0.41119	0.1145	N	0.17564	0.495	0.45515	D	0.998478	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.38643	T	0.18	-7.7709	6.648	0.22947	0.2024:0.0:0.6705:0.127	.	115	P36959	GMPR1_HUMAN	N	115	ENSP00000259727:S115N	ENSP00000259727:S115N	S	+	2	0	GMPR	16362824	1.000000	0.71417	0.951000	0.38953	0.559000	0.35586	1.444000	0.35068	0.320000	0.23234	0.655000	0.94253	AGC		0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			15	83	0	0	0	1	0	15	83				
PKD1	5310	broad.mit.edu	37	16	2153765	2153765	+	Missense_Mutation	SNP	G	G	A	rs144979397	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2153765G>A	ENST00000262304.4	-	23	8501	c.8293C>T	c.(8293-8295)Cgc>Tgc	p.R2765C	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2765	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		R -> C (in dbSNP:rs144979397). {ECO:0000269|PubMed:11115377, ECO:0000269|PubMed:11857740}.|R -> RILMR (in PKD1).		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGCGGGAGCGCATGAGGATG	0.692													g|||	10	0.00199681	0.0	0.0058	5008	,	,		10724	0.0		0.006	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(8293-8295)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)		G	CYS/ARG,CYS/ARG	12,4340		0,12,2164	24.0	25.0	25.0		8293,8293	3.9	1.0	16	dbSNP_134	25	63,8493		0,63,4215	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	180,180	0,75,6379	AA,AG,GG		0.7363,0.2757,0.581	probably-damaging,probably-damaging	2765/4303,2765/4304	2153765	75,12833	2176	4278	6454	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153765G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8293C>T	16.37:g.2153765G>A	ENSP00000262304:p.Arg2765Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C|PKD1_ENST00000561991.1_5'UTR	p.R2765C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			23	8501	-			2765		R -> C.|R -> RILMR (in ADPKD1).	REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8293C>T	CCDS32369.1	10	0.004578754578754579	0	0.0	0	0.0	0	0.0	10	0.013192612137203167	G	21.7	4.190255	0.78789	0.002757	0.007363	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.38401	1.14;1.14	4.89	3.88	0.44766	Egg jelly receptor, REJ-like (1);	0.315268	0.32785	N	0.005656	T	0.40171	0.1106	L	0.56769	1.78	0.43107	D	0.994805	D;D	0.76494	0.999;0.998	P;P	0.59703	0.862;0.719	T	0.41233	-0.9520	10	0.56958	D	0.05	.	10.5734	0.45212	0.0:0.0:0.618:0.382	.	2765;2765	P98161-3;P98161	.;PKD1_HUMAN	C	2765;2765;2100;1044	ENSP00000262304:R2765C;ENSP00000399501:R2765C	ENSP00000262304:R2765C	R	-	1	0	PKD1	2093766	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.491000	0.66887	2.535000	0.85469	0.555000	0.69702	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			15	21	0	0	0	1	0	15	21				
SEMA3F	6405	broad.mit.edu	37	3	50211246	50211246	+	Missense_Mutation	SNP	G	G	A	rs147135053		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50211246G>A	ENST00000002829.3	+	3	617	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Missense_Mutation_p.A45T|MIR566_ENST00000385187.1_RNA	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	45	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACAGGCACCGCCCACTTCTT	0.567																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(133-135)Gcc>Acc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F		G	THR/ALA	0,4406		0,0,2203	135.0	106.0	116.0		133	4.4	0.9	3	dbSNP_134	116	1,8597	1.2+/-3.3	0,1,4298	no	missense	SEMA3F	NM_004186.3	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	45/786	50211246	1,13003	2203	4299	6502	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50211246G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.133G>A	3.37:g.50211246G>A	ENSP00000002829:p.Ala45Thr					SEMA3F_ENST00000434342.1_Missense_Mutation_p.A45T|SEMA3F_ENST00000413852.1_5'UTR	p.A45T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	3	617	+			45			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.133G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586187	0.28268	0.0	1.16E-4	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342;ENST00000420831	T;T;T;T;T;T	0.45668	1.98;1.98;1.98;1.98;1.98;0.89	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	L	0.49256	1.55	0.49687	D	0.999816	D;D	0.89917	0.99;1.0	P;D	0.67548	0.588;0.952	T	0.48614	-0.9020	10	0.16420	T	0.52	.	15.1196	0.72432	0.0:0.0:0.857:0.143	.	45;45	C9JQ85;Q13275	.;SEM3F_HUMAN	T	45;45;45;45;45;3	ENSP00000392588:A45T;ENSP00000398399:A45T;ENSP00000002829:A45T;ENSP00000400549:A45T;ENSP00000409859:A45T;ENSP00000416356:A3T	ENSP00000002829:A45T	A	+	1	0	SEMA3F	50186250	1.000000	0.71417	0.864000	0.33941	0.000000	0.00434	5.451000	0.66632	1.333000	0.45449	-0.181000	0.13052	GCC		0.567	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		5	11	0	0	0	1	0	5	11				
F13B	2165	broad.mit.edu	37	1	197030913	197030913	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:197030913C>T	ENST00000367412.1	-	3	495		c.e3+1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GATTCTTATACCATGTTCTTT	0.338																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.e3+1		coagulation factor XIII, B polypeptide							109.0	94.0	99.0					1																	197030913		2203	4300	6503	SO:0001630	splice_region_variant	2165				blood coagulation	extracellular region		g.chr1:197030913C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.451+1G>A	1.37:g.197030913C>T								NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	495	-								A8K3E5|Q5VYL5	Splice_Site	SNP	ENST00000367412.1	37		CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201011	0.58234	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F13B	195297536	1.000000	0.71417	0.935000	0.37517	0.515000	0.34225	5.096000	0.64535	2.768000	0.95171	0.655000	0.94253	.		0.338	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	Intron	20	27	0	0	0	1	0	20	27				
SKIDA1	387640	broad.mit.edu	37	10	21804814	21804814	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21804814C>T	ENST00000449193.2	-	4	4190	c.1938G>A	c.(1936-1938)acG>acA	p.T646T	SKIDA1_ENST00000444772.3_Silent_p.T567T	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	565						nucleus (GO:0005634)											AGGGCAAATCCGTAGCAAATT	0.443																																						ENST00000449193.2																			0											c.(1936-1938)acG>acA		SKI/DACH domain containing 1							61.0	61.0	61.0					10																	21804814		1896	4130	6026	SO:0001819	synonymous_variant	387640							g.chr10:21804814C>T	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1938G>A	10.37:g.21804814C>T						SKIDA1_ENST00000444772.3_Silent_p.T567T	p.T646T	NM_207371.3	NP_997254.3					4	4190	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.1938G>A	CCDS44363.1																																																																																				0.443	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		27	36	0	0	0	1	0	27	36				
SERINC3	10955	broad.mit.edu	37	20	43135507	43135507	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43135507G>A	ENST00000342374.4	-	6	901	c.744C>T	c.(742-744)tgC>tgT	p.C248C	SERINC3_ENST00000255175.1_Silent_p.C248C|SERINC3_ENST00000541235.1_Silent_p.C193C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	248					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AAGCCACAACGCAAAGGATCA	0.373																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(742-744)tgC>tgT		serine incorporator 3							108.0	100.0	102.0					20																	43135507		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135507G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.744C>T	20.37:g.43135507G>A						SERINC3_ENST00000255175.1_Silent_p.C248C|SERINC3_ENST00000541235.1_Silent_p.C193C	p.C248C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	901	-		Myeloproliferative disorder(115;0.0122)	248					B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.744C>T	CCDS13333.1																																																																																				0.373	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		23	34	0	0	0	1	0	23	34				
RREB1	6239	broad.mit.edu	37	6	7230078	7230078	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7230078G>A	ENST00000349384.6	+	10	2060	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	RREB1_ENST00000334984.6_Silent_p.P582P|RREB1_ENST00000379938.2_Silent_p.P582P|RREB1_ENST00000379933.3_Silent_p.P582P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	582					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGCAGCAGCCGCGGGCGGAGC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1744-1746)ccG>ccA		ras responsive element binding protein 1							8.0	10.0	9.0					6																	7230078		1864	3740	5604	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230078G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1746G>A	6.37:g.7230078G>A						RREB1_ENST00000379933.3_Silent_p.P582P|RREB1_ENST00000349384.6_Silent_p.P582P|RREB1_ENST00000334984.6_Silent_p.P582P	p.P582P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2283	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	582					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1746G>A	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	7	0	0	0	1	0	5	7				
MOV10	4343	broad.mit.edu	37	1	113239370	113239370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113239370C>A	ENST00000413052.2	+	14	2490	c.2100C>A	c.(2098-2100)taC>taA	p.Y700*	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000369644.1_Nonsense_Mutation_p.Y644*|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Nonsense_Mutation_p.Y700*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	700					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACTGGGATACTCACTGCTGG	0.597																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1930-1932)taC>taA		Mov10, Moloney leukemia virus 10, homolog (mouse)							63.0	50.0	54.0					1																	113239370		2203	4299	6502	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113239370C>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2100C>A	1.37:g.113239370C>A	ENSP00000399797:p.Tyr700*					MOV10_ENST00000413052.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Nonsense_Mutation_p.Y700*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.Y700*	p.Y644*			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	15	2961	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	700					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.1932C>A	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	48	14.188311	0.99783	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	4.99	2.95	0.34219	.	0.748281	0.13438	N	0.387871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-7.3397	6.3911	0.21587	0.0:0.6765:0.1535:0.17	.	.	.	.	X	700;700;644;700;638	.	ENSP00000350028:Y700X	Y	+	3	2	MOV10	113040893	0.789000	0.28775	0.971000	0.41717	0.898000	0.52572	1.347000	0.33975	1.418000	0.47098	0.561000	0.74099	TAC		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	8	1	0	0.000602214	1	0.000612743	5	8				
CUBN	8029	broad.mit.edu	37	10	16975190	16975190	+	Missense_Mutation	SNP	G	G	A	rs140202552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:16975190G>A	ENST00000377833.4	-	40	6085	c.6020C>T	c.(6019-6021)aCg>aTg	p.T2007M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2007	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATGAGCCACGTACAGTCCAC	0.532																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(6019-6021)aCg>aTg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	MET/THR	0,4406		0,0,2203	120.0	103.0	109.0		6020	-5.0	0.0	10	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CUBN	NM_001081.3	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	2007/3624	16975190	3,13003	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16975190G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6020C>T	10.37:g.16975190G>A	ENSP00000367064:p.Thr2007Met						p.T2007M	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			40	6085	-			2007			CUB 14.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6020C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810025	0.32053	0.0	3.49E-4	ENSG00000107611	ENST00000377833	T	0.36878	1.23	5.85	-5.0	0.03001	CUB (5);	1.745590	0.03445	N	0.209875	T	0.29976	0.0750	L	0.58969	1.84	0.09310	N	1	P	0.35628	0.513	B	0.30646	0.118	T	0.25572	-1.0128	10	0.28530	T	0.3	.	8.4503	0.32866	0.3679:0.1713:0.4608:0.0	.	2007	O60494	CUBN_HUMAN	M	2007	ENSP00000367064:T2007M	ENSP00000367064:T2007M	T	-	2	0	CUBN	17015196	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.798000	0.27014	-0.931000	0.03746	-0.165000	0.13383	ACG		0.532	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		12	30	0	0	0	1	0	12	30				
CLN6	54982	broad.mit.edu	37	15	68510983	68510983	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:68510983C>A	ENST00000249806.5	-	2	246	c.89G>T	c.(88-90)gGc>gTc	p.G30V	RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000564752.1_Missense_Mutation_p.G30V|CLN6_ENST00000566347.1_Missense_Mutation_p.G30V|CLN6_ENST00000538696.1_Missense_Mutation_p.G62V|CLN6_ENST00000418702.2_5'UTR|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	30					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTCACAGAGCCATGCCTGGG	0.572																																						ENST00000249806.5																			0				large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(88-90)gGc>gTc		ceroid-lipofuscinosis, neuronal 6, late infantile, variant							73.0	69.0	71.0					15																	68510983		2200	4298	6498	SO:0001583	missense	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68510983C>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.89G>T	15.37:g.68510983C>A	ENSP00000249806:p.Gly30Val					CLN6_ENST00000418702.2_5'UTR|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000564752.1_Missense_Mutation_p.G30V|CLN6_ENST00000538696.1_Missense_Mutation_p.G62V|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Missense_Mutation_p.G30V	p.G30V	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN			2	246	-			30					A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	ENST00000249806.5	37	c.89G>T	CCDS10227.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948306	0.34377	.	.	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.95205	-3.64;-3.64	5.27	2.04	0.26737	.	1.074220	0.07144	N	0.847785	D	0.91399	0.7286	L	0.40543	1.245	0.09310	N	0.999995	B;B	0.14438	0.01;0.002	B;B	0.15484	0.013;0.004	T	0.80786	-0.1227	10	0.40728	T	0.16	-5.4113	11.6403	0.51228	0.0:0.6588:0.2678:0.0734	.	62;30	B4DDH6;Q9NWW5	.;CLN6_HUMAN	V	30;62	ENSP00000249806:G30V;ENSP00000445770:G62V	ENSP00000249806:G30V	G	-	2	0	CLN6	66298037	0.004000	0.15560	0.077000	0.20336	0.172000	0.22775	1.741000	0.38238	0.582000	0.29556	0.561000	0.74099	GGC		0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		10	22	1	0	0.00621372	1	0.00628055	10	22				
GATA5	140628	broad.mit.edu	37	20	61048565	61048565	+	Missense_Mutation	SNP	G	G	A	rs542925110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61048565G>A	ENST00000252997.2	-	3	654	c.593C>T	c.(592-594)cCg>cTg	p.P198L		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	198					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCGCCACAGCGGTGTGGACAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		11735	0.0		0.0	False		,,,				2504	0.001					ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(592-594)cCg>cTg		GATA binding protein 5							46.0	39.0	41.0					20																	61048565		2195	4298	6493	SO:0001583	missense	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61048565G>A	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.593C>T	20.37:g.61048565G>A	ENSP00000252997:p.Pro198Leu						p.P198L	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		3	654	-	Breast(26;2.05e-08)		198					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.593C>T	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145994	0.94603	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.99711	-6.49	4.78	4.78	0.61160	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96615	0.9455	10	0.87932	D	0	-39.3521	17.8742	0.88819	0.0:0.0:1.0:0.0	.	198	Q9BWX5	GATA5_HUMAN	L	198;218;198	ENSP00000252997:P198L	ENSP00000252997:P198L	P	-	2	0	GATA5	60481960	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	9.681000	0.98653	2.218000	0.71995	0.556000	0.70494	CCG		0.662	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	3	0	0	0	1	0	3	3				
SCD	6319	broad.mit.edu	37	10	102116398	102116398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:102116398C>T	ENST00000370355.2	+	5	1138	c.757C>T	c.(757-759)Cga>Tga	p.R253*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	253					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CACTTTCTTGCGATATGCTGT	0.502																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(757-759)Cga>Tga		stearoyl-CoA desaturase (delta-9-desaturase)							157.0	118.0	131.0					10																	102116398		2203	4300	6503	SO:0001587	stop_gained	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102116398C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.757C>T	10.37:g.102116398C>T	ENSP00000359380:p.Arg253*						p.R253*	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	5	1138	+		Colorectal(252;0.0323)	253					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Nonsense_Mutation	SNP	ENST00000370355.2	37	c.757C>T	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	C	37	6.317028	0.97467	.	.	ENSG00000099194	ENST00000370355	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9704	19.2404	0.93879	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	.	R	+	1	2	SCD	102106388	1.000000	0.71417	0.214000	0.23707	0.070000	0.16714	1.950000	0.40323	2.529000	0.85273	0.561000	0.74099	CGA		0.502	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		25	43	0	0	0	1	0	25	43				
SIDT2	51092	broad.mit.edu	37	11	117052666	117052666	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117052666G>A	ENST00000324225.4	+	3	980	c.449G>A	c.(448-450)cGc>cAc	p.R150H	SIDT2_ENST00000431081.2_Missense_Mutation_p.R150H|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	150					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.R150H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CGGGTCAGCCGCATGGACGAT	0.597																																						ENST00000324225.4																			1	Substitution - Missense(1)	p.R150H(1)	lung(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(448-450)cGc>cAc		SID1 transmembrane family, member 2							64.0	59.0	61.0					11																	117052666		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052666G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.449G>A	11.37:g.117052666G>A	ENSP00000314023:p.Arg150His					SIDT2_ENST00000431081.2_Missense_Mutation_p.R150H|SIDT2_ENST00000530948.1_3'UTR	p.R150H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	980	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	150					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.449G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308160	0.60305	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T	0.18960	2.2;2.18;2.19	5.14	5.14	0.70334	.	0.062208	0.64402	D	0.000004	T	0.15219	0.0367	L	0.31926	0.97	0.47862	D	0.999538	B;B;B;B	0.28258	0.205;0.054;0.13;0.13	B;B;B;B	0.29663	0.105;0.017;0.032;0.049	T	0.05115	-1.0905	10	0.10111	T	0.7	-14.2607	12.1632	0.54115	0.0778:0.0:0.9222:0.0	.	150;150;150;150	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	H	150;150;150;49	ENSP00000314023:R150H;ENSP00000278951:R150H;ENSP00000399635:R150H	ENSP00000278951:R150H	R	+	2	0	SIDT2	116557876	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.760000	0.68793	2.676000	0.91093	0.561000	0.74099	CGC		0.597	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		10	8	0	0	0	1	0	10	8				
ANKHD1	54882	broad.mit.edu	37	5	139865209	139865209	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139865209T>C	ENST00000360839.2	+	13	2188	c.2034T>C	c.(2032-2034)ggT>ggC	p.G678G	ANKHD1_ENST00000297183.6_Silent_p.G678G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G678G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	678						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAAAGGGTGGCCATACTA	0.373																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2032-2034)ggT>ggC		ankyrin repeat and KH domain containing 1							132.0	124.0	127.0					5																	139865209		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139865209T>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2034T>C	5.37:g.139865209T>C						ANKHD1_ENST00000360839.2_Silent_p.G678G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G678G	p.G678G	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2158	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.2034T>C	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	9.975	1.226442	0.22542	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62044	-0.6937	4	.	.	.	.	10.7641	0.46283	0.176:0.0:0.0:0.824	.	.	.	.	A	173	.	.	V	+	2	0	ANKHD1	139845393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.188000	0.42612	2.189000	0.69895	0.459000	0.35465	GTG		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		20	38	0	0	0	1	0	20	38				
LRRC37A6P	387646	broad.mit.edu	37	10	27535727	27535727	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27535727G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTGATCACCTGGGGACGAGAA	0.473																																						ENST00000574842.1																			0																																																			0							g.chr10:27535727G>A																													10.37:g.27535727G>A														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.473	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			45	79	0	0	0	1	0	45	79				
PSG2	5670	broad.mit.edu	37	19	43579557	43579557	+	Missense_Mutation	SNP	G	G	A	rs146901045	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43579557G>A	ENST00000406487.1	-	3	756	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	220	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R220W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCTGAGTTCCGTATTTCACAT	0.507													G|||	13	0.00259585	0.0076	0.0014	5008	,	,		19839	0.001		0.0	False		,,,				2504	0.001					ENST00000406487.1																			1	Substitution - Missense(1)	p.R220W(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(658-660)Cgg>Tgg		pregnancy specific beta-1-glycoprotein 2		G	TRP/ARG	21,4383		2,17,2183	231.0	242.0	238.0		658	-2.7	0.0	19	dbSNP_134	238	2,8594		0,2,4296	no	missense	PSG2	NM_031246.3	101	2,19,6479	AA,AG,GG		0.0233,0.4768,0.1769		220/336	43579557	23,12977	2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579557G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.658C>T	19.37:g.43579557G>A	ENSP00000385706:p.Arg220Trp						p.R220W	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			3	756	-		Prostate(69;0.00682)	220			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.658C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.825994	0.00589	0.004768	2.33E-4	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.13901	2.55	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07279	0.0184	N	0.17564	0.495	0.09310	N	1	B;B	0.22276	0.034;0.067	B;B	0.27170	0.022;0.077	T	0.24048	-1.0171	9	0.42905	T	0.14	.	2.9936	0.05991	0.3723:0.0:0.3049:0.3227	rs1058092;rs3198702;rs16976439	220;220	B5MCM8;P11465	.;PSG2_HUMAN	W	220	ENSP00000385706:R220W	ENSP00000332984:R220W	R	-	1	2	PSG2	48271397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.886000	0.00342	-3.875000	0.00096	-3.574000	0.00029	CGG		0.507	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		14	245	0	0	0	1	0	14	245				
CDC23	8697	broad.mit.edu	37	5	137533941	137533941	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137533941G>A	ENST00000394886.2	-	9	989	c.959C>T	c.(958-960)gCt>gTt	p.A320V		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	320					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAGGTTATGAGCCAGATAACT	0.294																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(958-960)gCt>gTt		cell division cycle 23							88.0	94.0	92.0					5																	137533941		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137533941G>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.959C>T	5.37:g.137533941G>A	ENSP00000378350:p.Ala320Val						p.A320V	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	989	-			320					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.959C>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905147	0.92035	.	.	ENSG00000094880	ENST00000394886	T	0.59502	0.26	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	M	0.92604	3.325	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.85835	0.1394	10	0.66056	D	0.02	-11.7325	19.1093	0.93310	0.0:0.0:1.0:0.0	.	320	Q9UJX2	CDC23_HUMAN	V	320	ENSP00000378350:A320V	ENSP00000378350:A320V	A	-	2	0	CDC23	137561840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.081000	0.94049	2.748000	0.94277	0.462000	0.41574	GCT		0.294	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			36	78	0	0	0	1	0	36	78				
DCLK1	9201	broad.mit.edu	37	13	36700137	36700137	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:36700137C>T	ENST00000360631.3	-	2	349	c.138G>A	c.(136-138)acG>acA	p.T46T	DCLK1_ENST00000379892.4_Silent_p.T46T|DCLK1_ENST00000255448.4_Silent_p.T46T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	46			T -> M (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			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)		GCGTCTGCAGCGTGCGGGTGC	0.597																																						ENST00000255448.4																			0				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						c.(136-138)acG>acA		doublecortin-like kinase 1							74.0	69.0	71.0					13																	36700137		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:36700137C>T	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.138G>A	13.37:g.36700137C>T						DCLK1_ENST00000360631.3_Silent_p.T46T|DCLK1_ENST00000379892.4_Silent_p.T46T	p.T46T	NM_004734.4	NP_004725.1	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)	2	349	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	46		T -> M (in a gastric adenocarcinoma sample; somatic mutation).			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.138G>A																																																																																					0.597	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		20	27	0	0	0	1	0	20	27				
CAST	831	broad.mit.edu	37	5	96011269	96011269	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:96011269G>A	ENST00000510756.1	+	2	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	CAST_ENST00000508830.1_Silent_p.S34S|CAST_ENST00000395812.2_Silent_p.S34S|CAST_ENST00000359176.4_Silent_p.S34S|CAST_ENST00000338252.3_5'UTR|CAST_ENST00000325674.7_Silent_p.S34S|CAST_ENST00000508608.1_Silent_p.S19S|CAST_ENST00000395813.1_Silent_p.S34S			P20810	ICAL_HUMAN	calpastatin	384					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAGTGAATCGCCTTCCAAAC	0.353																																						ENST00000395813.1																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(100-102)tcG>tcA		calpastatin							142.0	129.0	133.0					5																	96011269		1824	4073	5897	SO:0001819	synonymous_variant	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96011269G>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000510756.1:c.102G>A	5.37:g.96011269G>A						CAST_ENST00000338252.3_5'UTR|CAST_ENST00000508830.1_Silent_p.S34S|CAST_ENST00000325674.7_Silent_p.S34S|CAST_ENST00000510756.1_Silent_p.S34S|CAST_ENST00000395812.2_Silent_p.S34S|CAST_ENST00000508608.1_Silent_p.S19S|CAST_ENST00000359176.4_Silent_p.S34S	p.S34S			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	2	288	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	99					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent	SNP	ENST00000510756.1	37	c.102G>A	CCDS54882.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253397	0.10185	.	.	ENSG00000153113	ENST00000512620	.	.	.	4.77	-5.21	0.02815	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.38929	-0.9638	4	.	.	.	-0.8378	13.8212	0.63322	0.8436:0.0:0.1564:0.0	.	.	.	.	H	17	.	.	R	+	2	0	CAST	96037025	0.008000	0.16893	0.135000	0.22099	0.655000	0.38815	-0.453000	0.06778	-0.919000	0.03803	-0.145000	0.13849	CGC		0.353	CAST-010	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370546.1	NM_173062		4	55	0	0	0	1	0	4	55				
DGKK	139189	broad.mit.edu	37	X	50213386	50213386	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:50213386C>T	ENST00000376025.2	-	0	351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggctctgtggcaggttctggg	0.652																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							66.0	80.0	76.0					X																	50213386		1818	4055	5873			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213386C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213386C>T										Q5KSL6	DGKK_HUMAN			0	351	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.652	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		91	17	0	0	0	1	0	91	17				
MFN1	55669	broad.mit.edu	37	3	179085366	179085366	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179085366G>A	ENST00000471841.1	+	8	1019	c.893G>A	c.(892-894)gGg>gAg	p.G298E	MFN1_ENST00000280653.7_Missense_Mutation_p.G298E|MFN1_ENST00000263969.5_Missense_Mutation_p.G298E	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	298	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAAGCACAGGGGATGCCAGAA	0.403																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(892-894)gGg>gAg		mitofusin 1							56.0	57.0	57.0					3																	179085366		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179085366G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.893G>A	3.37:g.179085366G>A	ENSP00000420617:p.Gly298Glu					MFN1_ENST00000263969.5_Missense_Mutation_p.G298E|MFN1_ENST00000280653.7_Missense_Mutation_p.G298E	p.G298E	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		8	1019	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		298					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.893G>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981674	0.74474	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98645	1.0677	10	0.42905	T	0.14	-13.5304	19.1816	0.93625	0.0:0.0:1.0:0.0	.	298;326;298	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	E	298;298;298;298;161	ENSP00000420617:G298E;ENSP00000280653:G298E;ENSP00000263969:G298E;ENSP00000419926:G161E	ENSP00000263969:G298E	G	+	2	0	MFN1	180568060	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.358000	0.97109	2.601000	0.87937	0.655000	0.94253	GGG		0.403	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		18	23	0	0	0	1	0	18	23				
WNT5B	81029	broad.mit.edu	37	12	1755276	1755276	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1755276G>A	ENST00000397196.2	+	5	1170	c.938G>A	c.(937-939)gGc>gAc	p.G313D	WNT5B_ENST00000537031.1_Missense_Mutation_p.G313D|WNT5B_ENST00000310594.3_Missense_Mutation_p.G313D|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	313					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCATGGATGGCTGTGAGCTC	0.637																																						ENST00000397196.2																			0				skin(1)	1						c.(937-939)gGc>gAc		wingless-type MMTV integration site family, member 5B							58.0	63.0	61.0					12																	1755276		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1755276G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.938G>A	12.37:g.1755276G>A	ENSP00000380379:p.Gly313Asp					WNT5B_ENST00000537031.1_Missense_Mutation_p.G313D|WNT5B_ENST00000310594.3_Missense_Mutation_p.G313D|WNT5B_ENST00000545747.1_3'UTR	p.G313D	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		5	1170	+	Ovarian(42;0.107)		313					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.938G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987968	0.93106	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.76968	-1.06;-1.06;-1.06	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92179	0.5750	10	0.87932	D	0	.	18.8196	0.92090	0.0:0.0:1.0:0.0	.	313	Q9H1J7	WNT5B_HUMAN	D	313	ENSP00000439312:G313D;ENSP00000308887:G313D;ENSP00000380379:G313D	ENSP00000308887:G313D	G	+	2	0	WNT5B	1625537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.648000	0.98483	2.673000	0.90976	0.655000	0.94253	GGC		0.637	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			25	29	0	0	0	1	0	25	29				
KEL	3792	broad.mit.edu	37	7	142643378	142643378	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142643378G>A	ENST00000355265.2	-	11	1704	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	410					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCCTCCACGCACTTCATCC	0.567																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1228-1230)tgC>tgT		Kell blood group, metallo-endopeptidase							84.0	71.0	75.0					7																	142643378		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142643378G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1230C>T	7.37:g.142643378G>A						KEL_ENST00000479768.2_5'UTR	p.C410C	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			11	1704	-	Melanoma(164;0.059)		410					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1230C>T	CCDS34766.1																																																																																				0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		5	7	0	0	0	1	0	5	7				
RBM33	155435	broad.mit.edu	37	7	155537713	155537713	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155537713G>A	ENST00000401878.3	+	14	2594	c.2396G>A	c.(2395-2397)cGc>cAc	p.R799H	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	799							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GAACAGAAACGCCTAAGAGAA	0.463																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2395-2397)cGc>cAc		RNA binding motif protein 33							24.0	26.0	25.0					7																	155537713		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155537713G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2396G>A	7.37:g.155537713G>A	ENSP00000384160:p.Arg799His						p.R799H	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	14	2594	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	799					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2396G>A	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.976190|4.976190	0.92982|0.92982	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|T	.|0.61274	.|0.12	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.75883|0.75883	-0.3160|-0.3160	5|10	.|0.72032	.|D	.|0.01	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|516;799	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	T|H	571|799	.|ENSP00000384160:R799H	.|ENSP00000384160:R799H	A|R	+|+	1|2	0|0	RBM33|RBM33	155230474|155230474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.027000|9.027000	0.93706|0.93706	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.463	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		3	7	0	0	0	1	0	3	7				
NRDE2	55051	broad.mit.edu	37	14	90778852	90778852	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:90778852C>T	ENST00000354366.3	-	4	675	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	148																	CCAAACAAAGCGATGTCCAGT	0.473																																						ENST00000354366.3																			0											c.(442-444)cGc>cAc		NRDE-2, necessary for RNA interference, domain containing							150.0	138.0	142.0					14																	90778852		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90778852C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.443G>A	14.37:g.90778852C>T	ENSP00000346335:p.Arg148His					NRDE2_ENST00000357904.3_5'UTR	p.R148H	NM_017970.3	NP_060440.2					4	675	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.443G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906337	0.52333	.	.	ENSG00000119720	ENST00000354366	T	0.24723	1.84	5.14	1.18	0.20946	.	0.501710	0.23803	N	0.044401	T	0.16685	0.0401	L	0.40543	1.245	0.09310	N	0.999994	B	0.11235	0.004	B	0.04013	0.001	T	0.31558	-0.9939	10	0.12103	T	0.63	-7.1808	9.1536	0.36978	0.0:0.6014:0.0:0.3986	.	148	Q9H7Z3	CN102_HUMAN	H	148	ENSP00000346335:R148H	ENSP00000346335:R148H	R	-	2	0	C14orf102	89848605	0.000000	0.05858	0.001000	0.08648	0.972000	0.66771	-0.008000	0.12788	0.257000	0.21650	0.549000	0.68633	CGC		0.473	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		6	149	0	0	0	1	0	6	149				
COL14A1	7373	broad.mit.edu	37	8	121282370	121282370	+	Missense_Mutation	SNP	G	G	T	rs200771692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121282370G>T	ENST00000297848.3	+	26	3440	c.3170G>T	c.(3169-3171)aGc>aTc	p.S1057I	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1057I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S962I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCTATACAGCACTGTTGGA	0.393																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3169-3171)aGc>aTc		collagen, type XIV, alpha 1							96.0	91.0	93.0					8																	121282370		2203	4299	6502	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121282370G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3170G>T	8.37:g.121282370G>T	ENSP00000297848:p.Ser1057Ile					COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1057I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S962I	p.S1057I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		26	3440	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1057			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3170G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769732	0.69992	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.83837	-1.77;-1.77;-1.77	5.21	0.864	0.19068	von Willebrand factor, type A (3);	0.118196	0.85682	D	0.000000	D	0.87410	0.6170	M	0.75615	2.305	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	D	0.86909	0.2059	10	0.72032	D	0.01	.	11.4189	0.49969	0.2812:0.0:0.7188:0.0	.	1057	Q05707	COEA1_HUMAN	I	1057;1057;962	ENSP00000311809:S1057I;ENSP00000297848:S1057I;ENSP00000247781:S962I	ENSP00000247781:S962I	S	+	2	0	COL14A1	121351551	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	3.925000	0.56484	0.274000	0.22072	0.561000	0.74099	AGC		0.393	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		23	42	1	0	5.35047e-06	1	5.54705e-06	23	42				
PTK2	5747	broad.mit.edu	37	8	141856769	141856769	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:141856769G>A	ENST00000522684.1	-	6	688	c.459C>T	c.(457-459)agC>agT	p.S153S	PTK2_ENST00000395218.2_Silent_p.S153S|PTK2_ENST00000517887.1_Silent_p.S197S|PTK2_ENST00000521059.1_Silent_p.S153S|PTK2_ENST00000519419.1_Silent_p.S197S|PTK2_ENST00000535192.1_Silent_p.S153S|PTK2_ENST00000340930.3_Silent_p.S153S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	153	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACATATAATCGCTCTTCACCT	0.338																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(457-459)agC>agT		protein tyrosine kinase 2							97.0	91.0	93.0					8																	141856769		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856769G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.459C>T	8.37:g.141856769G>A						PTK2_ENST00000340930.3_Silent_p.S153S|PTK2_ENST00000521059.1_Silent_p.S153S|PTK2_ENST00000517887.1_Silent_p.S197S|PTK2_ENST00000519419.1_Silent_p.S197S|PTK2_ENST00000535192.1_Silent_p.S153S|PTK2_ENST00000395218.2_Silent_p.S153S	p.S153S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		6	688	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	153			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.459C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	9.816	1.184433	0.21870	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.45	-7.9	0.01169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.074	0.72063	0.5039:0.0:0.4961:0.0	.	.	.	.	X	164	.	.	R	-	1	2	PTK2	141925951	0.545000	0.26449	0.958000	0.39756	0.911000	0.54048	-0.157000	0.10085	-1.014000	0.03379	-1.056000	0.02311	CGA		0.338	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		10	30	0	0	0	1	0	10	30				
DHX33	56919	broad.mit.edu	37	17	5372013	5372013	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5372013G>A	ENST00000225296.3	-	1	367	c.167C>T	c.(166-168)gCc>gTc	p.A56V	DHX33_ENST00000433302.3_Missense_Mutation_p.A56V|CTC-524C5.5_ENST00000571506.1_lincRNA	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	56					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGAGGGCTGGGCCAGGGGCGG	0.701																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(166-168)gCc>gTc		DEAH (Asp-Glu-Ala-His) box polypeptide 33							14.0	16.0	15.0					17																	5372013		2186	4284	6470	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5372013G>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.167C>T	17.37:g.5372013G>A	ENSP00000225296:p.Ala56Val					DHX33_ENST00000433302.3_Missense_Mutation_p.A56V	p.A56V	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			1	367	-			56					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.167C>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907109	0.33628	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.26223	1.75;1.75	4.64	1.19	0.21007	.	0.395614	0.26546	N	0.023779	T	0.16214	0.0390	N	0.19112	0.55	0.20821	N	0.999843	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.002	T	0.22977	-1.0201	10	0.35671	T	0.21	.	13.5092	0.61502	0.0:0.4467:0.5533:0.0	.	56;56	Q05BE5;Q9H6R0	.;DHX33_HUMAN	V	56	ENSP00000225296:A56V;ENSP00000413779:A56V	ENSP00000225296:A56V	A	-	2	0	DHX33	5312737	0.910000	0.30920	1.000000	0.80357	0.967000	0.64934	0.082000	0.14847	0.637000	0.30526	-0.502000	0.04539	GCC		0.701	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		13	15	0	0	0	1	0	13	15				
NOSIP	51070	broad.mit.edu	37	19	50059642	50059642	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50059642G>A	ENST00000596358.1	-	8	824	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	NOSIP_ENST00000339093.3_Missense_Mutation_p.R259W|NOSIP_ENST00000391853.3_Missense_Mutation_p.R256W	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	256					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ATGTCCTTCCGAATCAGCTTC	0.622																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(766-768)Cgg>Tgg		nitric oxide synthase interacting protein							108.0	83.0	91.0					19																	50059642		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50059642G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.766C>T	19.37:g.50059642G>A	ENSP00000470034:p.Arg256Trp					NOSIP_ENST00000596358.1_Missense_Mutation_p.R256W|NOSIP_ENST00000339093.3_Missense_Mutation_p.R259W	p.R256W	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	9	917	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	256					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.766C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935888	0.52972	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.77358	-1.09	5.15	4.09	0.47781	Zinc finger, RING/FYVE/PHD-type (1);	0.147912	0.44097	D	0.000481	T	0.72676	0.3490	L	0.58101	1.795	0.42845	D	0.99406	B	0.22414	0.069	B	0.16289	0.015	T	0.71414	-0.4600	10	0.66056	D	0.02	-18.9981	11.3806	0.49754	0.0:0.0:0.5497:0.4503	.	256	Q9Y314	NOSIP_HUMAN	W	256	ENSP00000375726:R256W	ENSP00000343497:R256W	R	-	1	2	NOSIP	54751454	0.756000	0.28383	1.000000	0.80357	0.966000	0.64601	1.348000	0.33987	1.132000	0.42129	0.462000	0.41574	CGG		0.622	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			15	17	0	0	0	1	0	15	17				
STK10	6793	broad.mit.edu	37	5	171482621	171482621	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:171482621C>T	ENST00000176763.5	-	16	2840	c.2497G>A	c.(2497-2499)Gca>Aca	p.A833T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	833	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTCAGCTGCGCTGCCCCCG	0.652																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2497-2499)Gca>Aca		serine/threonine kinase 10							30.0	25.0	27.0					5																	171482621		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171482621C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2497G>A	5.37:g.171482621C>T	ENSP00000176763:p.Ala833Thr						p.A833T	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		16	2840	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	833			Gln-rich.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2497G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649511	0.29336	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.30714	1.52	5.23	4.35	0.52113	.	0.187402	0.47093	D	0.000242	T	0.40767	0.1130	L	0.50333	1.59	0.43959	D	0.996639	P	0.48998	0.918	P	0.52909	0.713	T	0.21999	-1.0229	10	0.49607	T	0.09	.	13.5904	0.61957	0.0:0.8427:0.1572:0.0	.	833	O94804	STK10_HUMAN	T	833	ENSP00000176763:A833T	ENSP00000176763:A833T	A	-	1	0	STK10	171415226	0.194000	0.23325	0.596000	0.28811	0.085000	0.17905	0.789000	0.26886	1.202000	0.43218	0.561000	0.74099	GCA		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		10	7	0	0	0	1	0	10	7				
GCN1L1	10985	broad.mit.edu	37	12	120574343	120574343	+	Missense_Mutation	SNP	G	G	A	rs201840533		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120574343G>A	ENST00000300648.6	-	51	6983	c.6971C>T	c.(6970-6972)gCg>gTg	p.A2324V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2324					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCAGAGCCGCCTTCACATT	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6970-6972)gCg>gTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G	VAL/ALA	1,4055		0,1,2027	46.0	50.0	49.0		6971	4.4	1.0	12		49	1,8389		0,1,4194	yes	missense	GCN1L1	NM_006836.1	64	0,2,6221	AA,AG,GG		0.0119,0.0247,0.0161	benign	2324/2672	120574343	2,12444	2028	4195	6223	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120574343G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6971C>T	12.37:g.120574343G>A	ENSP00000300648:p.Ala2324Val						p.A2324V	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			51	6983	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2324					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6971C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435552	0.43224	2.47E-4	1.19E-4	ENSG00000089154	ENST00000300648	T	0.64260	-0.09	5.45	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.219310	0.39834	N	0.001250	T	0.37293	0.0998	N	0.12182	0.205	0.34874	D	0.743908	B	0.10296	0.003	B	0.09377	0.004	T	0.41627	-0.9498	10	0.40728	T	0.16	.	3.5439	0.07821	0.3605:0.0:0.6395:0.0	.	2324	Q92616	GCN1L_HUMAN	V	2324	ENSP00000300648:A2324V	ENSP00000300648:A2324V	A	-	2	0	GCN1L1	119058726	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	4.882000	0.63121	2.548000	0.85928	0.591000	0.81541	GCG		0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	19	0	0	0	1	0	6	19				
URB2	9816	broad.mit.edu	37	1	229771763	229771763	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229771763G>A	ENST00000258243.2	+	4	1539	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	468						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAGTGCCACGGTTGTTTGAA	0.557																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1402-1404)cGg>cAg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							120.0	129.0	126.0					1																	229771763		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771763G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1403G>A	1.37:g.229771763G>A	ENSP00000258243:p.Arg468Gln						p.R468Q	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	1539	+			468					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1403G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105458	0.20632	.	.	ENSG00000135763	ENST00000258243	T	0.42513	0.97	5.35	0.07	0.14376	.	0.411376	0.27249	N	0.020232	T	0.30572	0.0769	M	0.64997	1.995	0.09310	N	1	B	0.30193	0.272	B	0.17433	0.018	T	0.12553	-1.0543	9	.	.	.	-11.9357	5.7552	0.18168	0.3905:0.0:0.4897:0.1198	.	468	Q14146	URB2_HUMAN	Q	468	ENSP00000258243:R468Q	.	R	+	2	0	URB2	227838386	0.102000	0.21896	0.035000	0.18076	0.318000	0.28184	0.913000	0.28611	-0.153000	0.11137	-0.157000	0.13467	CGG		0.557	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		8	128	0	0	0	1	0	8	128				
LAMB2	3913	broad.mit.edu	37	3	49158715	49158715	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49158715G>A	ENST00000418109.1	-	33	5505	c.5341C>T	c.(5341-5343)Cgc>Tgc	p.R1781C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000453664.1_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.R1781C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1781	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCACGCTGCGCATCCTGGCC	0.582																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(5341-5343)Cgc>Tgc		laminin, beta 2 (laminin S)							118.0	97.0	104.0					3																	49158715		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49158715G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.5341C>T	3.37:g.49158715G>A	ENSP00000388325:p.Arg1781Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R1781C	p.R1781C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	33	5505	-			1781			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.5341C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306981	0.81247	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35789	1.29;1.29	5.27	4.31	0.51392	.	0.126311	0.52532	D	0.000080	T	0.43010	0.1228	L	0.50333	1.59	0.58432	D	0.999998	D	0.76494	0.999	P	0.53689	0.732	T	0.36648	-0.9739	10	0.66056	D	0.02	.	10.6758	0.45785	0.0:0.0:0.5672:0.4328	.	1781	P55268	LAMB2_HUMAN	C	1781	ENSP00000388325:R1781C;ENSP00000307156:R1781C	ENSP00000307156:R1781C	R	-	1	0	LAMB2	49133719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.463000	0.45058	2.449000	0.82847	0.561000	0.74099	CGC		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		14	30	0	0	0	1	0	14	30				
FOXC2	2303	broad.mit.edu	37	16	86602198	86602198	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1255-1257)gcG>gcA		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							7.0	9.0	8.0					16																	86602198		2059	4069	6128	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602198G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1257G>A	16.37:g.86602198G>A							p.A419A	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1342	+			419			Ala/Pro-rich.|Poly-Ala.		C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.1257G>A	CCDS10958.1																																																																																				0.756	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		5	14	0	0	0	1	0	5	14				
SZT2	23334	broad.mit.edu	37	1	43870163	43870163	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43870163C>A	ENST00000562955.1	+	4	440	c.440C>A	c.(439-441)cCt>cAt	p.P147H	SZT2_ENST00000372450.4_Missense_Mutation_p.P145H|SZT2_ENST00000310739.4_Missense_Mutation_p.P147H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	147					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACTTCCAGCCTGAGATCTAT	0.522																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(439-441)cCt>cAt		seizure threshold 2 homolog (mouse)							130.0	113.0	119.0					1																	43870163		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43870163C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.440C>A	1.37:g.43870163C>A	ENSP00000457168:p.Pro147His					SZT2_ENST00000310739.4_Missense_Mutation_p.P147H|SZT2_ENST00000372450.4_Missense_Mutation_p.P145H	p.P147H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			4	440	+			147					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.440C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	32	5.116985	0.94385	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	T;T	0.19938	2.11;2.11	5.8	5.8	0.92144	.	.	.	.	.	T	0.46814	0.1412	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.33523	-0.9865	9	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	147;145	Q5T011-4;Q5T011-7	.;.	H	145;147;147	ENSP00000361528:P145H;ENSP00000312234:P147H	ENSP00000312234:P147H	P	+	2	0	AL139289.1	43642750	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.420000	0.80191	2.735000	0.93741	0.655000	0.94253	CCT		0.522	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		11	83	1	0	3.07112e-06	1	3.18879e-06	11	83				
ZNF598	90850	broad.mit.edu	37	16	2049981	2049981	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2049981C>T	ENST00000563630.1	-	9	1646	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A468A|ZNF598_ENST00000431526.1_Silent_p.A523A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	523							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGGTAGCCTGCGCCGAGAGTG	0.692																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1402-1404)gcG>gcA		zinc finger protein 598							6.0	8.0	7.0					16																	2049981		1936	4049	5985	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2049981C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1404G>A	16.37:g.2049981C>T						ZNF598_ENST00000431526.1_Silent_p.A523A|ZNF598_ENST00000562103.1_Silent_p.A468A	p.A468A			Q86UK7	ZN598_HUMAN			9	1646	-			523					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1404G>A																																																																																					0.692	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	3	0	0	0	1	0	3	3				
SLC6A18	348932	broad.mit.edu	37	5	1244331	1244331	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1244331C>T	ENST00000324642.3	+	10	1462	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	447					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCCAGGGCTGGTCTGCCT	0.632																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1339-1341)Ctg>Ttg		solute carrier family 6 (neutral amino acid transporter), member 18							72.0	71.0	71.0					5																	1244331		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244331C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1339C>T	5.37:g.1244331C>T						SLC6A18_ENST00000296821.4_Intron	p.L447L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1462	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		447						Silent	SNP	ENST00000324642.3	37	c.1339C>T	CCDS3860.1																																																																																				0.632	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		10	46	0	0	0	1	0	10	46				
VARS2	57176	broad.mit.edu	37	6	30887557	30887557	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30887557G>A	ENST00000321897.5	+	11	1729	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	VARS2_ENST00000542001.1_Missense_Mutation_p.R226H|VARS2_ENST00000541562.1_Missense_Mutation_p.R396H|VARS2_ENST00000416670.2_Missense_Mutation_p.R366H			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	366					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CGACAGCTTCGTCACCCCTTG	0.597																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1096-1098)cGt>cAt		valyl-tRNA synthetase 2, mitochondrial							265.0	285.0	278.0					6																	30887557		1508	2708	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30887557G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1097G>A	6.37:g.30887557G>A	ENSP00000316092:p.Arg366His					VARS2_ENST00000542001.1_Missense_Mutation_p.R226H|VARS2_ENST00000541562.1_Missense_Mutation_p.R396H|VARS2_ENST00000416670.2_Missense_Mutation_p.R366H	p.R366H			Q5ST30	SYVM_HUMAN			11	1729	+			366					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1097G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072684	0.20147	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.51	3.57	0.40892	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.235601	0.40385	N	0.001102	T	0.13670	0.0331	L	0.52905	1.665	0.35137	D	0.768517	B;B;B	0.24675	0.007;0.015;0.109	B;B;B	0.18561	0.01;0.008;0.022	T	0.06954	-1.0798	10	0.26408	T	0.33	-0.3613	5.1511	0.15009	0.1059:0.0:0.6876:0.2065	.	366;396;366	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	H	366;366;226;396	ENSP00000316092:R366H;ENSP00000394802:R366H;ENSP00000438200:R226H;ENSP00000441000:R396H	ENSP00000316092:R366H	R	+	2	0	VARS2	30995536	0.462000	0.25791	0.998000	0.56505	0.821000	0.46438	1.382000	0.34374	2.222000	0.72286	0.462000	0.41574	CGT		0.597	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		89	116	0	0	0	1	0	89	116				
CEP97	79598	broad.mit.edu	37	3	101474433	101474433	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101474433A>G	ENST00000341893.3	+	7	1640	c.888A>G	c.(886-888)aaA>aaG	p.K296K	CEP97_ENST00000327230.4_Silent_p.K296K|CEP97_ENST00000494050.1_Silent_p.K296K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	296					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTTTGAGCAAACAGAGGTAAG	0.433																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)aaA>aaG		centrosomal protein 97kDa							112.0	106.0	108.0					3																	101474433		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101474433A>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.888A>G	3.37:g.101474433A>G						CEP97_ENST00000494050.1_Silent_p.K296K|CEP97_ENST00000327230.4_Silent_p.K296K	p.K296K			Q8IW35	CEP97_HUMAN			7	1640	+			296					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.888A>G	CCDS2944.1																																																																																				0.433	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		3	70	0	0	0	1	0	3	70				
POFUT1	23509	broad.mit.edu	37	20	30803241	30803241	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30803241C>T	ENST00000375749.3	+	3	478	c.416C>T	c.(415-417)aCg>aTg	p.T139M	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.T139M|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	139					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GATAAGAAGACGTGCCCCATG	0.577																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(415-417)aCg>aTg		protein O-fucosyltransferase 1							67.0	71.0	70.0					20																	30803241		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30803241C>T	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.416C>T	20.37:g.30803241C>T	ENSP00000364902:p.Thr139Met					POFUT1_ENST00000375730.3_Missense_Mutation_p.T139M|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR	p.T139M	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	478	+			139					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.416C>T	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646670	0.67358	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T	0.31247	1.5	5.64	5.64	0.86602	.	0.142966	0.56097	D	0.000021	T	0.49949	0.1587	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.63703	0.759;0.917	T	0.47522	-0.9111	10	0.66056	D	0.02	-18.9715	15.2249	0.73342	0.0:0.86:0.14:0.0	.	139;139	Q9H488;Q9H488-2	OFUT1_HUMAN;.	M	139	ENSP00000364902:T139M	ENSP00000364882:T139M	T	+	2	0	POFUT1	30266902	0.990000	0.36364	0.996000	0.52242	0.991000	0.79684	2.690000	0.47001	2.664000	0.90586	0.655000	0.94253	ACG		0.577	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		14	56	0	0	0	1	0	14	56				
RFPL1	5988	broad.mit.edu	37	22	29837923	29837923	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29837923G>A	ENST00000354373.2	+	2	975	c.766G>A	c.(766-768)Gtt>Att	p.V256I	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	256	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CATGCAGAACGTTTCCTTTTT	0.517																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(766-768)Gtt>Att		ret finger protein-like 1							156.0	120.0	132.0					22																	29837923		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837923G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.766G>A	22.37:g.29837923G>A	ENSP00000346342:p.Val256Ile					RFPL1S_ENST00000461286.2_RNA	p.V256I	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	975	+			256			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.766G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	5.382	0.255723	0.10185	.	.	ENSG00000128250	ENST00000354373	T	0.64438	-0.1	1.42	0.00106	0.14045	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33000	0.0848	N	0.10645	0.015	0.09310	N	0.999997	B	0.23937	0.094	B	0.25759	0.063	T	0.24225	-1.0166	9	0.08599	T	0.76	.	4.7558	0.13082	0.4327:0.0:0.5673:0.0	.	256	O75677	RFPL1_HUMAN	I	256	ENSP00000346342:V256I	ENSP00000346342:V256I	V	+	1	0	RFPL1	28167923	0.026000	0.19158	0.001000	0.08648	0.130000	0.20726	0.100000	0.15231	-0.217000	0.10033	0.195000	0.17529	GTT		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		17	46	0	0	0	1	0	17	46				
DRC7	84229	broad.mit.edu	37	16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H			Q8IY82	CC135_HUMAN		615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1843-1845)cGc>cAc		coiled-coil domain containing 135							61.0	53.0	56.0					16																	57760065		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760065G>A																												ENST00000360716.3:c.1844G>A	16.37:g.57760065G>A	ENSP00000353942:p.Arg615His					CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H|CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H	p.R615H			Q8IY82	CC135_HUMAN			14	2065	+			615					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1844G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650959	0.67472	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10763	3.0;2.84;3.0	4.87	3.92	0.45320	.	0.178139	0.42682	D	0.000671	T	0.30479	0.0766	M	0.80847	2.515	0.32648	N	0.519777	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.43310	-0.9399	10	0.59425	D	0.04	-28.8677	8.1322	0.31033	0.0847:0.0:0.7591:0.1562	.	550;615	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	615;550;615	ENSP00000377869:R615H;ENSP00000338938:R550H;ENSP00000353942:R615H	ENSP00000338938:R550H	R	+	2	0	CCDC135	56317566	0.999000	0.42202	1.000000	0.80357	0.784000	0.44337	2.094000	0.41719	1.064000	0.40671	-0.119000	0.15052	CGC		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	14	0	0	0	1	0	7	14				
FAM101B	359845	broad.mit.edu	37	17	293240	293240	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:293240G>A	ENST00000329099.4	-	2	149	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	120					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)	p.D50D(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GCTGCACGTCGTCGATGAAGT	0.657																																						ENST00000329099.4																			2	Substitution - coding silent(2)	p.D50D(2)	large_intestine(1)|breast(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13						c.(148-150)gaC>gaT		family with sequence similarity 101, member B							62.0	69.0	66.0					17																	293240		2154	4253	6407	SO:0001819	synonymous_variant	359845							g.chr17:293240G>A			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.150C>T	17.37:g.293240G>A							p.D50D	NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	2	149	-		Myeloproliferative disorder(207;0.204)	120						Silent	SNP	ENST00000329099.4	37	c.150C>T																																																																																					0.657	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		22	48	0	0	0	1	0	22	48				
LRRC37A16P	651250	broad.mit.edu	37	17	66130875	66130875	+	RNA	SNP	C	C	T	rs183996137	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:66130875C>T	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		ATGGACTTGTCGTAAGATCGG	0.602													C|||	4	0.000798722	0.0	0.0	5008	,	,		17811	0.004		0.0	False		,,,				2504	0.0					ENST00000590019.1																			0																																																			0							g.chr17:66130875C>T			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66130875C>T														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.602	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			4	5	0	0	0	1	0	4	5				
NCAPG	64151	broad.mit.edu	37	4	17838849	17838849	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:17838849G>T	ENST00000251496.2	+	15	2353	c.2177G>T	c.(2176-2178)aGc>aTc	p.S726I		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	726					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTTTTGGTCAGCAGCAGGATT	0.428																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2176-2178)aGc>aTc		non-SMC condensin I complex, subunit G							163.0	140.0	148.0					4																	17838849		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17838849G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2177G>T	4.37:g.17838849G>T	ENSP00000251496:p.Ser726Ile						p.S726I	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	15	2353	+			726					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2177G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290724	0.95546	.	.	ENSG00000109805	ENST00000251496	T	0.46819	0.86	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74172	-0.3751	10	0.66056	D	0.02	-12.165	20.4209	0.99038	0.0:0.0:1.0:0.0	.	726	Q9BPX3	CND3_HUMAN	I	726	ENSP00000251496:S726I	ENSP00000251496:S726I	S	+	2	0	NCAPG	17447947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.417000	0.97391	2.823000	0.97156	0.591000	0.81541	AGC		0.428	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		8	66	1	0	0.00448238	1	0.00453641	8	66				
ABCG2	9429	broad.mit.edu	37	4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T	rs199578838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	113	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATTGGCAGGTCGCGGTGCTCC	0.393																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(337-339)cGa>cAa		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98.0	91.0	93.0					4																	89052995		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052995C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.338G>A	4.37:g.89052995C>T	ENSP00000237612:p.Arg113Gln					ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	883	-		Hepatocellular(203;0.114)	113			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.338G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965615	0.18583	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.93712	-3.27;-3.27	5.42	0.583	0.17417	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.179846	0.50627	N	0.000109	D	0.82917	0.5141	N	0.17082	0.46	0.27922	N	0.93821	B;B	0.15719	0.014;0.009	B;B	0.11329	0.006;0.003	T	0.68153	-0.5484	10	0.14656	T	0.56	3.9295	7.2445	0.26114	0.0:0.345:0.0:0.655	.	113;113	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	Q	113	ENSP00000426917:R113Q;ENSP00000237612:R113Q	ENSP00000237612:R113Q	R	-	2	0	ABCG2	89272019	0.972000	0.33761	0.634000	0.29324	0.258000	0.26162	1.310000	0.33551	0.209000	0.20645	0.655000	0.94253	CGA		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		14	17	0	0	0	1	0	14	17				
A4GALT	53947	broad.mit.edu	37	22	43089595	43089595	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43089595G>A	ENST00000401850.1	-	2	852	c.363C>T	c.(361-363)aaC>aaT	p.N121N	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.N121N|A4GALT_ENST00000381278.3_Silent_p.N121N			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	121					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCAGAGAGGCGTTGCCACCCG	0.637																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(361-363)aaC>aaT		alpha 1,4-galactosyltransferase							82.0	90.0	87.0					22																	43089595		2203	4300	6503	SO:0001819	synonymous_variant	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089595G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.363C>T	22.37:g.43089595G>A						A4GALT_ENST00000249005.2_Silent_p.N121N|A4GALT_ENST00000381278.3_Silent_p.N121N	p.N121N			Q9NPC4	A4GAT_HUMAN			2	852	-			121					B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	c.363C>T	CCDS14041.1																																																																																				0.637	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		39	47	0	0	0	1	0	39	47				
HNRNPUL1	11100	broad.mit.edu	37	19	41808629	41808629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41808629C>T	ENST00000392006.3	+	12	1920	c.1747C>T	c.(1747-1749)Cag>Tag	p.Q583*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q469*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q583*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q494*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q483*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	583	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGAGCTGCAGCGGGAGGA	0.562																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1747-1749)Cag>Tag		heterogeneous nuclear ribonucleoprotein U-like 1							84.0	79.0	81.0					19																	41808629		2203	4300	6503	SO:0001587	stop_gained	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808629C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1747C>T	19.37:g.41808629C>T	ENSP00000375863:p.Gln583*					HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q469*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q483*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q583*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q494*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q483*	p.Q583*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			12	1920	+			583			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Nonsense_Mutation	SNP	ENST00000392006.3	37	c.1747C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	39	7.632872	0.98403	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.7685	17.9067	0.88920	0.0:1.0:0.0:0.0	.	.	.	.	X	483;583;469;494	.	ENSP00000263367:Q494X	Q	+	1	0	HNRNPUL1	46500469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	2.837000	0.97791	0.591000	0.81541	CAG		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		20	29	0	0	0	1	0	20	29				
PCDHA12	56137	broad.mit.edu	37	5	140256125	140256125	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140256125G>A	ENST00000398631.2	+	1	1068	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	356	Cadherin 4. {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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACTGTCGCTCCCTGTGC	0.517																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1066-1068)tcG>tcA									88.0	90.0	90.0					5																	140256125		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140256125G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1068G>A	5.37:g.140256125G>A						PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.S356S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1068	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1068G>A	CCDS47285.1																																																																																				0.517	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		16	28	0	0	0	1	0	16	28				
GPRC5C	55890	broad.mit.edu	37	17	72443003	72443003	+	Missense_Mutation	SNP	G	G	A	rs367868727		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72443003G>A	ENST00000392627.1	+	4	2423	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	GPRC5C_ENST00000342648.5_Missense_Mutation_p.D73N|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.D400N|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	388					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGGAGCTTACGACATCATCCT	0.637																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1297-1299)Gac>Aac		G protein-coupled receptor, family C, group 5, member C		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	51.0	46.0	48.0		1198,1297	5.6	1.0	17		48	1,8599		0,1,4299	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	400/454,433/487	72443003	1,13005	2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443003G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1297G>A	17.37:g.72443003G>A	ENSP00000376403:p.Asp433Asn					GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.D73N|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.D400N	p.D433N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			4	2423	+			388					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1297G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260736	0.95368	0.0	1.16E-4	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.24350	1.86	5.59	5.59	0.84812	.	0.165515	0.52532	D	0.000070	T	0.42966	0.1226	L	0.34521	1.04	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;0.998;0.999	D;P;P;P	0.97110	1.0;0.794;0.794;0.845	T	0.30736	-0.9968	10	0.87932	D	0	-32.7619	18.1601	0.89705	0.0:0.0:1.0:0.0	.	99;388;388;400	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	N	388;433;99;400;388	ENSP00000376405:D400N	ENSP00000262616:D99N	D	+	1	0	GPRC5C	69954598	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.172000	0.65003	2.648000	0.89879	0.561000	0.74099	GAC		0.637	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			13	23	0	0	0	1	0	13	23				
STAT4	6775	broad.mit.edu	37	2	192011454	192011454	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192011454G>A	ENST00000392320.2	-	3	472	c.158C>T	c.(157-159)gCa>gTa	p.A53V	STAT4_ENST00000358470.4_Missense_Mutation_p.A53V|STAT4_ENST00000409995.1_Missense_Mutation_p.A53V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	53					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAATCGTTGCCATGGTTTC	0.318																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(157-159)gCa>gTa		signal transducer and activator of transcription 4							77.0	74.0	75.0					2																	192011454		2203	4299	6502	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:192011454G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.158C>T	2.37:g.192011454G>A	ENSP00000376134:p.Ala53Val					STAT4_ENST00000358470.4_Missense_Mutation_p.A53V|STAT4_ENST00000409995.1_Missense_Mutation_p.A53V	p.A53V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		3	472	-			53					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.158C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223582	0.95139	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064;ENST00000409995;ENST00000450994	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.45	5.45	0.79879	STAT transcription factor, protein interaction (4);	0.193409	0.43416	D	0.000571	T	0.76990	0.4065	M	0.76574	2.34	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.931;0.931	T	0.78041	-0.2359	10	0.66056	D	0.02	-33.1339	19.4782	0.94998	0.0:0.0:1.0:0.0	.	53;53;53	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	V	53;53;26;53;53	ENSP00000351255:A53V;ENSP00000376134:A53V;ENSP00000403238:A26V;ENSP00000386288:A53V;ENSP00000412397:A53V	ENSP00000351255:A53V	A	-	2	0	STAT4	191719699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.061000	0.89467	2.838000	0.97847	0.655000	0.94253	GCA		0.318	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		17	17	0	0	0	1	0	17	17				
MESDC2	23184	broad.mit.edu	37	15	81271611	81271611	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81271611A>G	ENST00000261758.4	-	3	740	c.654T>C	c.(652-654)tcT>tcC	p.S218S	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	218					mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TGGAAGACCGAGATTTCAGAT	0.507																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(652-654)tcT>tcC		mesoderm development candidate 2							84.0	88.0	87.0					15																	81271611		2203	4300	6503	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81271611A>G	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.654T>C	15.37:g.81271611A>G							p.S218S	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			3	740	-			218					B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.654T>C	CCDS32308.1																																																																																				0.507	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		14	25	0	0	0	1	0	14	25				
ZNF646	9726	broad.mit.edu	37	16	31092695	31092695	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31092695C>T	ENST00000394979.2	+	1	5473	c.5050C>T	c.(5050-5052)Cgc>Tgc	p.R1684C	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1684C			O15015	ZN646_HUMAN	zinc finger protein 646	1684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAGTGCGGGCGCTCCTACCG	0.647																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(5050-5052)Cgc>Tgc		zinc finger protein 646							71.0	82.0	78.0					16																	31092695		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092695C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5050C>T	16.37:g.31092695C>T	ENSP00000378429:p.Arg1684Cys					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1684C	p.R1684C			O15015	ZN646_HUMAN			1	5473	+			1684					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.5050C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.060168	0.76074	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.55760	0.5;0.5	5.8	5.8	0.92144	.	.	.	.	.	T	0.68284	0.2984	L	0.59912	1.85	0.51233	D	0.999918	D	0.89917	1.0	D	0.77004	0.989	T	0.69818	-0.5042	9	0.87932	D	0	-12.5219	13.7609	0.62966	0.1538:0.8461:0.0:0.0	.	1684	O15015-2	.	C	1684	ENSP00000300850:R1684C;ENSP00000378429:R1684C	ENSP00000300850:R1684C	R	+	1	0	ZNF646	31000196	0.935000	0.31712	1.000000	0.80357	0.994000	0.84299	0.619000	0.24388	2.755000	0.94549	0.655000	0.94253	CGC		0.647	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		26	29	0	0	0	1	0	26	29				
OR1D5	8386	broad.mit.edu	37	17	2966211	2966211	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:2966211C>A	ENST00000575751.1	-	1	690	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	231					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						TTCTTAGAGGCCGAGGGCATT	0.507																																						ENST00000575751.1																			0				kidney(1)|lung(10)	11						c.(691-693)Gcc>Tcc		olfactory receptor, family 1, subfamily D, member 5							101.0	110.0	107.0					17																	2966211		2176	4293	6469	SO:0001583	missense	8386				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:2966211C>A	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.691G>T	17.37:g.2966211C>A	ENSP00000459028:p.Ala231Ser						p.A231S	NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN			1	690	-			231					Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.691G>T	CCDS58499.1																																																																																				0.507	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		5	36	1	0	0.0215528	1	0.0217053	5	36				
DNAH2	146754	broad.mit.edu	37	17	7691458	7691458	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7691458G>A	ENST00000572933.1	+	44	8256	c.6796G>A	c.(6796-6798)Gcc>Acc	p.A2266T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2266T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2266	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAGATGCTGGCCTTTAAGAA	0.552																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6796-6798)Gcc>Acc		dynein, axonemal, heavy chain 2							67.0	58.0	61.0					17																	7691458		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691458G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6796G>A	17.37:g.7691458G>A	ENSP00000458355:p.Ala2266Thr					DNAH2_ENST00000389173.2_Missense_Mutation_p.A2266T	p.A2266T			Q9P225	DYH2_HUMAN			44	8256	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2266			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6796G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261588	0.23051	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.86694	-2.16	4.84	-5.95	0.02241	.	0.818451	0.10899	N	0.621820	T	0.73426	0.3585	N	0.19112	0.55	0.37228	D	0.905577	B	0.02656	0.0	B	0.04013	0.001	T	0.47032	-0.9148	10	0.17369	T	0.5	.	12.9358	0.58313	0.4295:0.0:0.5705:0.0	.	2266	Q9P225	DYH2_HUMAN	T	2266	ENSP00000373825:A2266T	ENSP00000353818:A2266T	A	+	1	0	DNAH2	7632183	0.007000	0.16637	0.013000	0.15412	0.678000	0.39670	0.057000	0.14279	-1.273000	0.02424	-0.367000	0.07326	GCC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	17	0	0	0	1	0	6	17				
ITIH5	80760	broad.mit.edu	37	10	7608139	7608139	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7608139G>A	ENST00000256861.6	-	13	2459	c.2381C>T	c.(2380-2382)gCc>gTc	p.A794V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A576V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A580V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	794					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTGACATTGGCGTTGGCAGA	0.597																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2380-2382)gCc>gTc		inter-alpha-trypsin inhibitor heavy chain family, member 5							109.0	85.0	93.0					10																	7608139		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608139G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2381C>T	10.37:g.7608139G>A	ENSP00000256861:p.Ala794Val					ITIH5_ENST00000446830.2_Missense_Mutation_p.A576V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.A580V	p.A794V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			13	2459	-			794					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2381C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116543	0.77323	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.12147	2.71;2.71;2.71	5.98	5.98	0.97165	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.247666	0.48286	D	0.000186	T	0.19366	0.0465	.	.	.	0.80722	D	1	P;B	0.37207	0.587;0.239	B;B	0.38985	0.287;0.189	T	0.00451	-1.1731	9	0.52906	T	0.07	-42.0365	20.4293	0.99080	0.0:0.0:1.0:0.0	.	794;580	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	794;580;576	ENSP00000256861:A794V;ENSP00000298441:A580V;ENSP00000387969:A576V	ENSP00000256861:A794V	A	-	2	0	ITIH5	7648145	1.000000	0.71417	0.947000	0.38551	0.420000	0.31355	9.306000	0.96204	2.833000	0.97629	0.655000	0.94253	GCC		0.597	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		8	9	0	0	0	1	0	8	9				
PDE9A	5152	broad.mit.edu	37	21	44189204	44189204	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44189204C>T	ENST00000291539.6	+	17	1589	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	PDE9A_ENST00000398232.3_Missense_Mutation_p.A443V|PDE9A_ENST00000398236.3_Missense_Mutation_p.A424V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A469V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A382V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A376V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A484V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A382V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Missense_Mutation_p.A450V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A383V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A457V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A409V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A350V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A408V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	510	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GTGACCAAGGCCACAGCCCAG	0.507																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1528-1530)gCc>gTc		phosphodiesterase 9A							214.0	168.0	184.0					21																	44189204		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44189204C>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1529C>T	21.37:g.44189204C>T	ENSP00000291539:p.Ala510Val					PDE9A_ENST00000398236.3_Missense_Mutation_p.A424V|PDE9A_ENST00000380328.2_Missense_Mutation_p.A457V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A450V|PDE9A_ENST00000398232.3_Missense_Mutation_p.A443V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A350V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A382V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A376V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A484V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A469V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A409V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A382V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A383V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A408V|PDE9A_ENST00000470987.1_3'UTR	p.A510V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			17	1589	+			510			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1529C>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942725	0.73672	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	4.75	4.75	0.60458	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.108656	0.64402	D	0.000005	T	0.80071	0.4556	M	0.80332	2.49	0.46725	D	0.999173	P;B;B;P;P;P;B;P;P;B;P;P;P;B;P	0.47910	0.806;0.383;0.383;0.806;0.902;0.729;0.383;0.583;0.583;0.383;0.806;0.834;0.692;0.383;0.839	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.40636	0.193;0.139;0.139;0.335;0.215;0.156;0.255;0.255;0.255;0.139;0.139;0.215;0.139;0.255;0.292	D	0.85052	0.0929	10	0.72032	D	0.01	.	17.7454	0.88419	0.0:1.0:0.0:0.0	.	443;424;409;484;469;402;450;293;350;376;382;408;457;383;510	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	450;382;510;457;443;409;424;484;408;469;376;350;382;383	ENSP00000335242:A450V;ENSP00000441899:A382V;ENSP00000291539:A510V;ENSP00000369685:A457V;ENSP00000381287:A443V;ENSP00000381289:A409V;ENSP00000381291:A424V;ENSP00000328699:A484V;ENSP00000335365:A408V;ENSP00000381281:A469V;ENSP00000381285:A376V;ENSP00000381283:A350V;ENSP00000344730:A382V;ENSP00000381280:A383V	ENSP00000291539:A510V	A	+	2	0	PDE9A	43062273	1.000000	0.71417	0.990000	0.47175	0.783000	0.44284	7.356000	0.79445	2.190000	0.69967	0.313000	0.20887	GCC		0.507	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	7	0	0	0	1	0	11	7				
KEAP1	9817	broad.mit.edu	37	19	10610427	10610427	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10610427C>T	ENST00000171111.5	-	2	830	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KEAP1_ENST00000393623.2_Missense_Mutation_p.A95T|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	95	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACCTTGTGGGCCATGAACTGG	0.612																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(283-285)Gcc>Acc		kelch-like ECH-associated protein 1							83.0	65.0	71.0					19																	10610427		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610427C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.283G>A	19.37:g.10610427C>T	ENSP00000171111:p.Ala95Thr					KEAP1_ENST00000393623.2_Missense_Mutation_p.A95T	p.A95T	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	830	-			95			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.283G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027068	0.75390	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77098	-1.07;-1.07	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.053923	0.64402	D	0.000001	T	0.76905	0.4053	L	0.46819	1.47	0.58432	D	0.999999	P	0.47034	0.889	P	0.46758	0.526	T	0.80346	-0.1421	10	0.66056	D	0.02	.	15.0979	0.72250	0.0:1.0:0.0:0.0	.	95	Q14145	KEAP1_HUMAN	T	95	ENSP00000171111:A95T;ENSP00000377245:A95T	ENSP00000171111:A95T	A	-	1	0	KEAP1	10471427	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.015000	0.76387	2.162000	0.67917	0.462000	0.41574	GCC		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	10	0	0	0	1	0	6	10				
CCDC185	164127	broad.mit.edu	37	1	223566990	223566990	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223566990G>A	ENST00000366875.3	+	1	276	c.173G>A	c.(172-174)tGc>tAc	p.C58Y		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		58										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGGGGCGTGCTGGCTGCAC	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(172-174)tGc>tAc		chromosome 1 open reading frame 65							8.0	10.0	9.0					1																	223566990		1946	4016	5962	SO:0001583	missense	164127							g.chr1:223566990G>A																												ENST00000366875.3:c.173G>A	1.37:g.223566990G>A	ENSP00000355840:p.Cys58Tyr						p.C58Y	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	276	+			58					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.173G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989939	0.18966	.	.	ENSG00000178395	ENST00000366875	T	0.18502	2.21	3.38	0.0842	0.14436	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.14578	0.011	T	0.31194	-0.9952	9	0.56958	D	0.05	.	5.5233	0.16945	0.0:0.4757:0.4019:0.1224	.	58	Q8N715	CA065_HUMAN	Y	58	ENSP00000355840:C58Y	ENSP00000355840:C58Y	C	+	2	0	C1orf65	221633613	0.000000	0.05858	0.030000	0.17652	0.069000	0.16628	-0.431000	0.06965	0.154000	0.19237	-0.256000	0.11100	TGC		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			8	8	0	0	0	1	0	8	8				
FBXO34	55030	broad.mit.edu	37	14	55817903	55817903	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55817903A>G	ENST00000313833.4	+	2	1040	c.795A>G	c.(793-795)ggA>ggG	p.G265G	FBXO34_ENST00000440021.1_Silent_p.G265G	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	265										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGAAAGGGGAAATCTTGAGG	0.552																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(793-795)ggA>ggG		F-box protein 34							81.0	83.0	82.0					14																	55817903		2203	4300	6503	SO:0001819	synonymous_variant	55030							g.chr14:55817903A>G	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.795A>G	14.37:g.55817903A>G						FBXO34_ENST00000440021.1_Silent_p.G265G	p.G265G	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1040	+			265					Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	c.795A>G	CCDS32086.1																																																																																				0.552	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			20	38	0	0	0	1	0	20	38				
PTPRF	5792	broad.mit.edu	37	1	44054509	44054509	+	Missense_Mutation	SNP	G	G	A	rs368337407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44054509G>A	ENST00000359947.4	+	8	1127	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372414.3_Missense_Mutation_p.V263M|PTPRF_ENST00000372413.3_Missense_Mutation_p.V263M|PTPRF_ENST00000438120.1_Missense_Mutation_p.V263M	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	263	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGCCCTACGTGAAGTGGAT	0.617																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(787-789)Gtg>Atg		protein tyrosine phosphatase, receptor type, F		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	87.0	95.0		787,787	5.2	1.0	1		95	0,8600		0,0,4300	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	263/1908,263/1899	44054509	1,13005	2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44054509G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.787G>A	1.37:g.44054509G>A	ENSP00000353030:p.Val263Met					PTPRF_ENST00000372414.3_Missense_Mutation_p.V263M|PTPRF_ENST00000438120.1_Missense_Mutation_p.V263M|PTPRF_ENST00000372413.3_Missense_Mutation_p.V263M	p.V263M	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			8	1127	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	263			Ig-like C2-type 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.787G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546502	0.86022	2.27E-4	0.0	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31347	N	0.007811	D	0.89986	0.6874	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.66602	0.756;0.945	D	0.88992	0.3415	10	0.32370	T	0.25	.	19.6648	0.95889	0.0:0.0:1.0:0.0	.	263;263	P10586-2;P10586	.;PTPRF_HUMAN	M	263	ENSP00000353030:V263M;ENSP00000398822:V263M;ENSP00000361491:V263M;ENSP00000361490:V263M	ENSP00000353030:V263M	V	+	1	0	PTPRF	43827096	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	7.864000	0.87037	2.811000	0.96726	0.655000	0.94253	GTG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	12	0	0	0	1	0	8	12				
UVSSA	57654	broad.mit.edu	37	4	1348948	1348948	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1348948C>T	ENST00000389851.4	+	7	1538	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	AC078852.1_ENST00000504748.1_RNA|UVSSA_ENST00000511216.1_Missense_Mutation_p.A364V|UVSSA_ENST00000507531.1_Missense_Mutation_p.A364V	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	364					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TTAAAGCGTGCCATTGACCTG	0.627																																						ENST00000389851.4																			0											c.(1090-1092)gCc>gTc		UV-stimulated scaffold protein A							63.0	62.0	62.0					4																	1348948		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1348948C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1091C>T	4.37:g.1348948C>T	ENSP00000374501:p.Ala364Val					UVSSA_ENST00000507531.1_Missense_Mutation_p.A364V|UVSSA_ENST00000511216.1_Missense_Mutation_p.A364V	p.A364V	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			7	1538	+			364					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1091C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271892	0.80469	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.32515	1.45;1.45;1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	P	0.61722	0.893	T	0.10660	-1.0620	10	0.15066	T	0.55	.	18.8478	0.92213	0.0:1.0:0.0:0.0	.	364	Q2YD98	K1530_HUMAN	V	364	ENSP00000425130:A364V;ENSP00000374501:A364V;ENSP00000421741:A364V	ENSP00000374501:A364V	A	+	2	0	KIAA1530	1338948	1.000000	0.71417	0.978000	0.43139	0.123000	0.20343	5.829000	0.69316	2.455000	0.83008	0.561000	0.74099	GCC		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	6	0	0	0	1	0	3	6				
ZNF407	55628	broad.mit.edu	37	18	72776060	72776060	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72776060C>T	ENST00000299687.5	+	8	6383	c.6383C>T	c.(6382-6384)gCg>gTg	p.A2128V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATGCAGGAGGCGCAGGGCGAG	0.647																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6382-6384)gCg>gTg		zinc finger protein 407							30.0	37.0	35.0					18																	72776060		2180	4269	6449	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72776060C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6383C>T	18.37:g.72776060C>T	ENSP00000299687:p.Ala2128Val						p.A2128V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6383	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2128					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6383C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085194	0.55861	.	.	ENSG00000215421	ENST00000299687	T	0.15603	2.41	4.67	4.67	0.58626	.	.	.	.	.	T	0.22244	0.0536	M	0.64997	1.995	0.53005	D	0.999964	D	0.52996	0.957	B	0.40677	0.337	T	0.00193	-1.1934	9	0.87932	D	0	.	15.7626	0.78096	0.0:1.0:0.0:0.0	.	2128	Q9C0G0	ZN407_HUMAN	V	2128	ENSP00000299687:A2128V	ENSP00000299687:A2128V	A	+	2	0	ZNF407	70905048	0.998000	0.40836	0.008000	0.14137	0.490000	0.33462	4.272000	0.58908	-0.611000	0.05709	-0.467000	0.05162	GCG		0.647	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		3	5	0	0	0	1	0	3	5				
FBXO6	26270	broad.mit.edu	37	1	11733705	11733705	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11733705G>A	ENST00000376753.4	+	6	814	c.679G>A	c.(679-681)Gtc>Atc	p.V227I		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	227	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCGGGGTGTCCGCTACAT	0.637																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(679-681)Gtc>Atc		F-box protein 6							81.0	79.0	80.0					1																	11733705		2203	4300	6503	SO:0001583	missense	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11733705G>A	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.679G>A	1.37:g.11733705G>A	ENSP00000365944:p.Val227Ile						p.V227I	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	814	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	227			FBA.		B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	c.679G>A	CCDS133.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137919	0.77775	.	.	ENSG00000116663	ENST00000376753	T	0.46451	0.87	5.72	5.72	0.89469	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.053834	0.64402	D	0.000001	T	0.63343	0.2503	M	0.78801	2.425	0.41753	D	0.989674	D	0.58970	0.984	P	0.61592	0.891	T	0.63866	-0.6540	10	0.45353	T	0.12	.	16.5806	0.84714	0.0:0.0:1.0:0.0	.	227	Q9NRD1	FBX6_HUMAN	I	227	ENSP00000365944:V227I	ENSP00000365944:V227I	V	+	1	0	FBXO6	11656292	1.000000	0.71417	0.965000	0.40720	0.474000	0.32979	5.386000	0.66238	2.703000	0.92315	0.561000	0.74099	GTC		0.637	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		5	54	0	0	0	1	0	5	54				
SEPT1	1731	broad.mit.edu	37	16	30387747	30387747	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30387747G>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.R59H			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCTCCAGGCCGCCTCAATGTG	0.577																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(175-177)cGc>cAc		myosin light chain, phosphorylatable, fast skeletal muscle							90.0	95.0	93.0					16																	30387747		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387747G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387747G>A							p.R59H	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		4	257	+			59			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	G	24.2	4.500651	0.85176	.	.	ENSG00000180209	ENST00000322861	T	0.74632	-0.86	5.49	4.52	0.55395	EF-hand-like domain (1);	0.164385	0.56097	D	0.000029	T	0.72350	0.3449	L	0.31476	0.935	0.47374	D	0.999409	D	0.55800	0.973	P	0.51266	0.664	T	0.76438	-0.2959	10	0.87932	D	0	.	15.0914	0.72198	0.0:0.143:0.857:0.0	.	59	Q96A32	MLRS_HUMAN	H	59	ENSP00000325239:R59H	ENSP00000325239:R59H	R	+	2	0	MYLPF	30295248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.029000	0.57253	1.291000	0.44653	0.467000	0.42956	CGC		0.577	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	39	0	0	0	1	0	9	39				
ZBTB8A	653121	broad.mit.edu	37	1	33058779	33058779	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33058779G>A	ENST00000373510.4	+	3	476	c.247G>A	c.(247-249)Gta>Ata	p.V83I	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.V83I	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						CTTGGACTTCGTATATTCTGG	0.418																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(247-249)Gta>Ata		zinc finger and BTB domain containing 8A							113.0	108.0	110.0					1																	33058779		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058779G>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.247G>A	1.37:g.33058779G>A	ENSP00000362609:p.Val83Ile					ZBTB8A_ENST00000316459.4_Missense_Mutation_p.V83I|RP1-27O5.3_ENST00000480336.1_3'UTR	p.V83I	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	476	+			83			BTB.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.247G>A	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068068	0.55539	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.68331	-0.32;-0.32	5.32	5.32	0.75619	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.140555	0.47093	U	0.000250	T	0.42675	0.1213	N	0.02286	-0.61	0.39462	D	0.967582	P;P	0.42973	0.622;0.796	B;B	0.40782	0.34;0.252	T	0.49995	-0.8879	10	0.10111	T	0.7	-11.1661	18.3637	0.90384	0.0:0.0:1.0:0.0	.	83;83	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	I	83	ENSP00000362609:V83I;ENSP00000317561:V83I	ENSP00000317561:V83I	V	+	1	0	ZBTB8A	32831366	1.000000	0.71417	0.988000	0.46212	0.961000	0.63080	6.113000	0.71553	2.651000	0.90000	0.585000	0.79938	GTA		0.418	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		61	65	0	0	0	1	0	61	65				
IGFALS	3483	broad.mit.edu	37	16	1841078	1841078	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1841078C>T	ENST00000215539.3	-	2	1451	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	IGFALS_ENST00000415638.3_Silent_p.T485T			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	447					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GGGGCAGGTGCGTGAGCTGGT	0.692																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1453-1455)acG>acA		insulin-like growth factor binding protein, acid labile subunit							16.0	18.0	17.0					16																	1841078		2180	4274	6454	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841078C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1341G>A	16.37:g.1841078C>T						IGFALS_ENST00000215539.3_Silent_p.T447T	p.T485T	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1534	-			447					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.1455G>A	CCDS10446.1																																																																																				0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			7	19	0	0	0	1	0	7	19				
NOD1	10392	broad.mit.edu	37	7	30492455	30492455	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:30492455T>A	ENST00000222823.4	-	6	1103	c.578A>T	c.(577-579)gAg>gTg	p.E193V	NOD1_ENST00000423334.2_Missense_Mutation_p.E193V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTCACCCTGCTCATTGAGGAT	0.622																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(577-579)gAg>gTg		nucleotide-binding oligomerization domain containing 1							103.0	93.0	97.0					7																	30492455		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492455T>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.578A>T	7.37:g.30492455T>A	ENSP00000222823:p.Glu193Val					NOD1_ENST00000423334.2_Missense_Mutation_p.E193V	p.E193V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1103	-			193					B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.578A>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	7.767	0.706663	0.15239	.	.	ENSG00000106100	ENST00000222823;ENST00000423334	T	0.21191	2.02	5.49	2.96	0.34315	.	0.198415	0.52532	D	0.000065	T	0.16214	0.0390	L	0.45137	1.4	0.45762	D	0.998658	B;B	0.26120	0.142;0.022	B;B	0.20577	0.03;0.007	T	0.05194	-1.0900	10	0.42905	T	0.14	.	8.2174	0.31521	0.1323:0.0:0.1387:0.7289	.	193;193	B4DTU3;Q9Y239	.;NOD1_HUMAN	V	193	ENSP00000222823:E193V	ENSP00000222823:E193V	E	-	2	0	NOD1	30458980	1.000000	0.71417	0.994000	0.49952	0.134000	0.20937	2.246000	0.43142	0.890000	0.36211	-0.316000	0.08728	GAG		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			20	29	0	0	0	1	0	20	29				
MICU2	221154	broad.mit.edu	37	13	22069324	22069324	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:22069324T>C	ENST00000382374.4	-	11	1241	c.1176A>G	c.(1174-1176)aaA>aaG	p.K392K	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	392	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GCATTCTGTTTTTTAACACCC	0.313																																						ENST00000382374.4																			0											c.(1174-1176)aaA>aaG		mitochondrial calcium uptake 2							91.0	85.0	87.0					13																	22069324		2203	4300	6503	SO:0001819	synonymous_variant	221154							g.chr13:22069324T>C	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1176A>G	13.37:g.22069324T>C						MICU2_ENST00000479790.1_5'UTR	p.K392K	NM_152726.2	NP_689939.1					11	1241	-								Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.1176A>G	CCDS9297.1																																																																																				0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		18	21	0	0	0	1	0	18	21				
NTNG1	22854	broad.mit.edu	37	1	108023405	108023405	+	Silent	SNP	C	C	T	rs549268470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:108023405C>T	ENST00000370068.1	+	8	2409	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	NTNG1_ENST00000370073.2_Silent_p.S521S|NTNG1_ENST00000370061.3_Silent_p.S487S|NTNG1_ENST00000542803.1_Silent_p.S521S|NTNG1_ENST00000370066.1_Silent_p.S462S|NTNG1_ENST00000370067.1_Silent_p.S442S|NTNG1_ENST00000370072.3_Silent_p.S476S|NTNG1_ENST00000370070.2_Silent_p.S442S|NTNG1_ENST00000370065.1_Silent_p.S476S|NTNG1_ENST00000370074.4_Silent_p.S420S|NTNG1_ENST00000370071.2_Silent_p.S462S			Q9Y2I2	NTNG1_HUMAN	netrin G1	521				S -> T (in Ref. 2; AAQ88731). {ECO:0000305}.	axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGCACGGCTCCCCAGCGCTGC	0.721													C|||	1	0.000199681	0.0	0.0	5008	,	,		11048	0.0		0.0	False		,,,				2504	0.001					ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1324-1326)tcC>tcT		netrin G1							8.0	9.0	9.0					1																	108023405		2185	4248	6433	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023405C>T	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1563C>T	1.37:g.108023405C>T						NTNG1_ENST00000370072.3_Silent_p.S476S|NTNG1_ENST00000370074.4_Silent_p.S420S|NTNG1_ENST00000370061.3_Silent_p.S487S|NTNG1_ENST00000370065.1_Silent_p.S476S|NTNG1_ENST00000370066.1_Silent_p.S462S|NTNG1_ENST00000370073.2_Silent_p.S521S|NTNG1_ENST00000370068.1_Silent_p.S521S|NTNG1_ENST00000370070.2_Silent_p.S442S|NTNG1_ENST00000542803.1_Silent_p.S521S|NTNG1_ENST00000370071.2_Silent_p.S462S	p.S442S			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1953	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	521			Laminin EGF-like 3.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1326C>T	CCDS44180.1																																																																																				0.721	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		4	1	0	0	0	1	0	4	1				
USP47	55031	broad.mit.edu	37	11	11913565	11913565	+	Silent	SNP	G	G	A	rs188261952		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:11913565G>A	ENST00000399455.2	+	5	588	c.468G>A	c.(466-468)ccG>ccA	p.P156P	USP47_ENST00000527733.1_Silent_p.P136P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.P68P	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	156					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATAGGTCCGCTTCCAAGAG	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18482	0.0		0.0	False		,,,				2504	0.0					ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(202-204)ccG>ccA		ubiquitin specific peptidase 47		G		6,3756		0,6,1875	181.0	176.0	178.0		204	-10.2	1.0	11		178	0,8186		0,0,4093	no	coding-synonymous	USP47	NM_017944.3		0,6,5968	AA,AG,GG		0.0,0.1595,0.0502		68/1288	11913565	6,11942	1881	4093	5974	SO:0001819	synonymous_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11913565G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.468G>A	11.37:g.11913565G>A						USP47_ENST00000527733.1_Silent_p.P136P|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.P156P	p.P68P	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	3	967	+			156					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	ENST00000399455.2	37	c.204G>A																																																																																					0.388	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		64	73	0	0	0	1	0	64	73				
KIAA1586	57691	broad.mit.edu	37	6	56915637	56915637	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56915637C>T	ENST00000370733.4	+	3	378	c.171C>T	c.(169-171)agC>agT	p.S57S	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	57							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAACCCTAGCGCCTATTATA	0.383																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(169-171)agC>agT		KIAA1586							260.0	222.0	235.0					6																	56915637		2203	4300	6503	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56915637C>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.171C>T	6.37:g.56915637C>T						KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	p.S57S	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	378	+	Lung NSC(77;0.0969)		57					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.171C>T	CCDS34480.1																																																																																				0.383	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		43	78	0	0	0	1	0	43	78				
ZNF292	23036	broad.mit.edu	37	6	87971050	87971050	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:87971050C>T	ENST00000369577.3	+	8	7746	c.7703C>T	c.(7702-7704)gCt>gTt	p.A2568V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2563V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2568						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAGAAACTGCTGTTGCCATT	0.388																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7702-7704)gCt>gTt		zinc finger protein 292							42.0	42.0	42.0					6																	87971050		1893	4111	6004	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87971050C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7703C>T	6.37:g.87971050C>T	ENSP00000358590:p.Ala2568Val					ZNF292_ENST00000339907.4_Missense_Mutation_p.A2563V	p.A2568V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7746	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2568					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.7703C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697533	0.30142	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08102	3.13;3.14	5.85	5.85	0.93711	.	0.255356	0.46145	D	0.000308	T	0.03608	0.0103	L	0.48877	1.53	0.40349	D	0.979116	P	0.48503	0.911	B	0.36766	0.232	T	0.50915	-0.8771	10	0.25106	T	0.35	.	13.3656	0.60682	0.0:0.9281:0.0:0.0719	.	2568	O60281	ZN292_HUMAN	V	2568;2563	ENSP00000358590:A2568V;ENSP00000342847:A2563V	ENSP00000342847:A2563V	A	+	2	0	ZNF292	88027769	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.787000	0.55439	2.755000	0.94549	0.655000	0.94253	GCT		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	12	0	0	0	1	0	9	12				
C1orf110	339512	broad.mit.edu	37	1	162824960	162824960	+	Silent	SNP	G	G	A	rs190249067	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162824960G>A	ENST00000367910.1	-	4	624	c.504C>T	c.(502-504)gaC>gaT	p.D168D	C1orf110_ENST00000367912.2_Silent_p.D167D|C1orf110_ENST00000367911.2_Silent_p.D163D|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	168										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGGGGTCTACGTCCTTAGATG	0.463													G|||	3	0.000599042	0.0	0.0	5008	,	,		20117	0.002		0.001	False		,,,				2504	0.0					ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(499-501)gaC>gaT		chromosome 1 open reading frame 110		G		2,3840		0,2,1919	274.0	261.0	265.0		504	-0.1	0.0	1		265	33,8235		0,33,4101	no	coding-synonymous	C1orf110	NM_178550.4		0,35,6020	AA,AG,GG		0.3991,0.0521,0.289		168/303	162824960	35,12075	1921	4134	6055	SO:0001819	synonymous_variant	339512							g.chr1:162824960G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.504C>T	1.37:g.162824960G>A						C1orf110_ENST00000367910.1_Silent_p.D168D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Silent_p.D163D	p.D167D			Q86UF4	CA110_HUMAN			4	675	-			168					Q5JSG1|Q6ZW57	Silent	SNP	ENST00000367910.1	37	c.501C>T	CCDS44269.1																																																																																				0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		8	157	0	0	0	1	0	8	157				
TRANK1	9881	broad.mit.edu	37	3	36898725	36898725	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:36898725C>T	ENST00000429976.2	-	12	2603	c.2356G>A	c.(2356-2358)Gat>Aat	p.D786N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D236N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D236N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	786							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCATGTTATCGAAGTCCTGG	0.498																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(706-708)Gat>Aat		tetratricopeptide repeat and ankyrin repeat containing 1							236.0	228.0	231.0					3																	36898725		2030	4199	6229	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898725C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2356G>A	3.37:g.36898725C>T	ENSP00000416168:p.Asp786Asn					TRANK1_ENST00000428977.2_Missense_Mutation_p.D236N|TRANK1_ENST00000429976.2_Missense_Mutation_p.D786N	p.D236N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	2603	-			786					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.706G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013084	0.54468	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35421	1.31;1.68;1.31	5.64	5.64	0.86602	.	0.272984	0.25804	N	0.028196	T	0.27933	0.0688	L	0.27053	0.805	0.37679	D	0.923401	P	0.35793	0.521	B	0.25405	0.06	T	0.20672	-1.0268	10	0.56958	D	0.05	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	786	O15050	TRNK1_HUMAN	N	236;786;236	ENSP00000416826:D236N;ENSP00000416168:D786N;ENSP00000301807:D236N	ENSP00000301807:D236N	D	-	1	0	TRANK1	36873729	0.999000	0.42202	0.951000	0.38953	0.890000	0.51754	4.337000	0.59310	2.837000	0.97791	0.655000	0.94253	GAT		0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		93	129	0	0	0	1	0	93	129				
DEGS1	8560	broad.mit.edu	37	1	224377662	224377662	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:224377662G>A	ENST00000323699.4	+	2	632	c.466G>A	c.(466-468)Gct>Act	p.A156T	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.A156T	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	156					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTTCTGTACCGCTTTCAGAAA	0.423																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(466-468)Gct>Act		delta(4)-desaturase, sphingolipid 1							215.0	208.0	210.0					1																	224377662		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377662G>A	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.466G>A	1.37:g.224377662G>A	ENSP00000316476:p.Ala156Thr					DEGS1_ENST00000391877.3_Missense_Mutation_p.A156T|DEGS1_ENST00000465848.1_3'UTR	p.A156T	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	632	+	Breast(184;0.193)		156						Missense_Mutation	SNP	ENST00000323699.4	37	c.466G>A	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	3.539	-0.094201	0.07053	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.17528	2.27;2.27;2.27	6.02	1.13	0.20643	Fatty acid desaturase, type 1 (1);	0.293557	0.43579	N	0.000552	T	0.03651	0.0104	N	0.00960	-1.095	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.36311	-0.9753	10	0.16896	T	0.51	.	2.2083	0.03941	0.407:0.3239:0.1676:0.1015	.	156;135	O15121;E7EMA0	DEGS1_HUMAN;.	T	135;156;156	ENSP00000400545:A135T;ENSP00000316476:A156T;ENSP00000375749:A156T	ENSP00000316476:A156T	A	+	1	0	DEGS1	222444285	0.195000	0.23338	0.289000	0.24876	0.969000	0.65631	2.102000	0.41796	0.175000	0.19841	-0.362000	0.07510	GCT		0.423	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			61	85	0	0	0	1	0	61	85				
TTN	7273	broad.mit.edu	37	2	179577222	179577222	+	Missense_Mutation	SNP	C	C	T	rs186857044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179577222C>T	ENST00000591111.1	-	93	26700	c.26476G>A	c.(26476-26478)Gtt>Att	p.V8826I	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7899I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V9143I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12975	Ig-like 71.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGTAACCGAAATGGGA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27427-27429)Gtt>Att		titin							64.0	62.0	63.0					2																	179577222		1850	4091	5941	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577222C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26476G>A	2.37:g.179577222C>T	ENSP00000465570:p.Val8826Ile					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8826I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7899I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.V9143I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	27651	-			8826			Ig-like 74.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27427G>A		.	.	.	.	.	.	.	.	.	.	C	8.868	0.948610	0.18356	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.88	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71143	0.3305	L	0.42245	1.32	0.80722	D	1	P	0.45634	0.863	P	0.48227	0.571	T	0.74842	-0.3527	9	0.87932	D	0	.	15.2405	0.73465	0.0:0.9327:0.0:0.0673	.	8826	Q8WZ42	TITIN_HUMAN	I	7899	ENSP00000343764:V7899I	ENSP00000343764:V7899I	V	-	1	0	TTN	179285467	1.000000	0.71417	0.011000	0.14972	0.005000	0.04900	4.902000	0.63266	1.485000	0.48380	-0.137000	0.14449	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	22	0	0	0	1	0	17	22				
GJC2	57165	broad.mit.edu	37	1	228345726	228345726	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228345726G>A	ENST00000366714.2	+	2	442	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	89					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCATCTCCACGCCCTCGGTCA	0.716																																						ENST00000366714.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(265-267)acG>acA		gap junction protein, gamma 2, 47kDa							43.0	36.0	38.0					1																	228345726		2203	4300	6503	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228345726G>A	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.267G>A	1.37:g.228345726G>A							p.T89T	NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN			2	442	+		Prostate(94;0.0405)	89					O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.267G>A	CCDS1569.1																																																																																				0.716	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		9	19	0	0	0	1	0	9	19				
MYO18A	399687	broad.mit.edu	37	17	27448161	27448161	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27448161G>A	ENST00000527372.1	-	6	1620	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	480	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTGTATGCGGTCTGGGCCA	0.587																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1438-1440)acC>acT		myosin XVIIIA							42.0	44.0	43.0					17																	27448161		2151	4244	6395	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448161G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1440C>T	17.37:g.27448161G>A						MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T	p.T480T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1620	-			480			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.1440C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473054	0.12461	.	.	ENSG00000196535	ENST00000528564	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49263	-0.8958	4	.	.	.	.	2.5029	0.04638	0.4888:0.1928:0.151:0.1674	.	.	.	.	C	186	.	.	R	-	1	0	MYO18A	24472287	0.000000	0.05858	0.007000	0.13788	0.751000	0.42716	-3.592000	0.00421	-3.801000	0.00105	-0.258000	0.10820	CGC		0.587	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		5	9	0	0	0	1	0	5	9				
ZDBF2	57683	broad.mit.edu	37	2	207173107	207173107	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207173107A>G	ENST00000374423.3	+	5	4241	c.3855A>G	c.(3853-3855)atA>atG	p.I1285M		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1285							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGAATAAATTTTGATT	0.393																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3853-3855)atA>atG		zinc finger, DBF-type containing 2							34.0	35.0	35.0					2																	207173107		1801	4078	5879	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173107A>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3855A>G	2.37:g.207173107A>G	ENSP00000363545:p.Ile1285Met						p.I1285M	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4241	+			1285					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3855A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	5.652	0.304906	0.10678	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	3.88	1.45	0.22620	.	.	.	.	.	T	0.36110	0.0955	L	0.49126	1.545	0.09310	N	1	B	0.30584	0.286	B	0.27887	0.084	T	0.29181	-1.0020	9	0.49607	T	0.09	.	3.898	0.09147	0.6679:0.2182:0.1138:0.0	.	1285	Q9HCK1	ZDBF2_HUMAN	M	1285	ENSP00000363545:I1285M	ENSP00000363545:I1285M	I	+	3	3	ZDBF2	206881352	0.002000	0.14202	0.005000	0.12908	0.001000	0.01503	0.949000	0.29109	0.310000	0.22990	0.528000	0.53228	ATA		0.393	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	44	0	0	0	1	0	4	44				
TRABD	80305	broad.mit.edu	37	22	50636541	50636541	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50636541C>T	ENST00000303434.4	+	9	1001	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRABD_ENST00000395827.1_Silent_p.G294G|TRABD_ENST00000395829.1_Silent_p.G294G|RP3-402G11.26_ENST00000608025.1_RNA|SELO_ENST00000380903.2_5'Flank|TRABD_ENST00000380909.4_Silent_p.G294G	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	294										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TGGTCGTGGGCGTCGTGGGCA	0.667																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(880-882)ggC>ggT		TraB domain containing							55.0	50.0	52.0					22																	50636541		2199	4299	6498	SO:0001819	synonymous_variant	80305							g.chr22:50636541C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.882C>T	22.37:g.50636541C>T						TRABD_ENST00000395829.1_Silent_p.G294G|TRABD_ENST00000380909.4_Silent_p.G294G|TRABD_ENST00000395827.1_Silent_p.G294G	p.G294G	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	9	1001	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	294					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.882C>T	CCDS14086.1																																																																																				0.667	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		10	10	0	0	0	1	0	10	10				
PSMB9	5698	broad.mit.edu	37	6	32826307	32826307	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32826307C>T	ENST00000374859.2	+	5	601				PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_Missense_Mutation_p.P142L	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	GGAAGGGTACCTGGGGAGGGC	0.498																																						ENST00000453265.2																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(424-426)cCt>cTt		proteasome (prosome, macropain) subunit, beta type, 9							42.0	47.0	45.0					6																	32826307		1508	2708	4216	SO:0001627	intron_variant	5698				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr6:32826307C>T		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.532+25C>T	6.37:g.32826307C>T						PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_Intron	p.P142L			P28065	PSB9_HUMAN			4	494	+			0					B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	c.425C>T	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731225	0.48939	.	.	ENSG00000240065	ENST00000453265	T	0.43294	0.95	4.85	1.8	0.24995	.	.	.	.	.	T	0.10423	0.0255	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.19391	0.025	T	0.33317	-0.9873	7	.	.	.	.	8.0477	0.30559	0.1692:0.5022:0.3285:0.0	.	142	B4DZW2	.	L	142	ENSP00000394773:P142L	.	P	+	2	0	PSMB9	32934285	0.509000	0.26163	0.059000	0.19551	0.915000	0.54546	2.572000	0.45999	0.702000	0.31825	0.643000	0.83706	CCT		0.498	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5	NM_002800		10	20	0	0	0	1	0	10	20				
VPS16	64601	broad.mit.edu	37	20	2845812	2845812	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2845812C>T	ENST00000380445.3	+	21	2095	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	VPS16_ENST00000380443.3_Missense_Mutation_p.R361W|VPS16_ENST00000380469.3_Missense_Mutation_p.R531W|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	675					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GGATCAAATGCGGCTCCTACG	0.582																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2023-2025)Cgg>Tgg		vacuolar protein sorting 16 homolog (S. cerevisiae)							65.0	71.0	69.0					20																	2845812		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2845812C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2023C>T	20.37:g.2845812C>T	ENSP00000369810:p.Arg675Trp					VPS16_ENST00000380443.3_Missense_Mutation_p.R361W|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R531W	p.R675W	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			21	2095	+			675					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2023C>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271586	0.59649	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.52983	0.64;0.64;0.64	4.89	-1.44	0.08856	Vps16, C-terminal (1);	0.112447	0.56097	D	0.000027	T	0.63165	0.2488	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;0.999	P;D;D;D	0.65987	0.875;0.94;0.926;0.94	T	0.69522	-0.5123	10	0.87932	D	0	-22.8414	14.661	0.68870	0.7619:0.2381:0.0:0.0	.	151;361;531;675	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	W	675;531;361	ENSP00000369810:R675W;ENSP00000369836:R531W;ENSP00000369808:R361W	ENSP00000369808:R361W	R	+	1	2	VPS16	2793812	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.586000	0.36611	-0.081000	0.12662	-0.182000	0.12963	CGG		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		18	38	0	0	0	1	0	18	38				
TARS	6897	broad.mit.edu	37	5	33467737	33467737	+	Missense_Mutation	SNP	G	G	A	rs200221822		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:33467737G>A	ENST00000265112.3	+	19	2407	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	TARS_ENST00000502553.1_Missense_Mutation_p.R699H|TARS_ENST00000541634.1_Missense_Mutation_p.R595H|TARS_ENST00000455217.2_Missense_Mutation_p.R732H|TARS_ENST00000414361.2_Missense_Mutation_p.R578H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	699					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CACGGGGAACGCACCATTTCT	0.423																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(2095-2097)cGc>cAc		threonyl-tRNA synthetase	L-Threonine(DB00156)	G	HIS/ARG	0,4406		0,0,2203	65.0	64.0	65.0		2096	5.2	0.5	5		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TARS	NM_152295.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	699/724	33467737	1,13005	2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467737G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2096G>A	5.37:g.33467737G>A	ENSP00000265112:p.Arg699His					TARS_ENST00000414361.2_Missense_Mutation_p.R578H|TARS_ENST00000541634.1_Missense_Mutation_p.R595H|TARS_ENST00000455217.2_Missense_Mutation_p.R732H|TARS_ENST00000502553.1_Missense_Mutation_p.R699H	p.R699H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			19	2407	+			699					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.2096G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	11.11	1.541186	0.27563	0.0	1.16E-4	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.2	5.2	0.72013	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	N	0.20766	0.605	0.80722	D	1	B;B;B;B	0.18610	0.007;0.029;0.005;0.007	B;B;B;B	0.13407	0.009;0.009;0.005;0.009	T	0.67256	-0.5716	10	0.15066	T	0.55	-17.8947	18.7427	0.91780	0.0:0.0:1.0:0.0	.	578;732;595;699	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	699;699;595;732;578	ENSP00000424387:R699H;ENSP00000265112:R699H;ENSP00000438469:R595H;ENSP00000387710:R732H;ENSP00000394291:R578H	ENSP00000265112:R699H	R	+	2	0	TARS	33503494	0.996000	0.38824	0.455000	0.27031	0.603000	0.37013	3.221000	0.51215	2.418000	0.82041	0.557000	0.71058	CGC		0.423	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		19	27	0	0	0	1	0	19	27				
HOXD3	3232	broad.mit.edu	37	2	177036997	177036997	+	Missense_Mutation	SNP	C	C	A	rs572940906		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036997C>A	ENST00000468418.3	+	4	3384	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	HOXD3_ENST00000249440.3_Missense_Mutation_p.L432M|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.L432M			P31249	HXD3_HUMAN	homeobox D3	432					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACTGACGCATCTGTAGCGGCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14490	0.0		0.001	False		,,,				2504	0.0					ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(1294-1296)Ctg>Atg		homeobox D3							27.0	32.0	30.0					2																	177036997		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036997C>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1294C>A	2.37:g.177036997C>A	ENSP00000424734:p.Leu432Met					HOXD3_ENST00000249440.3_Missense_Mutation_p.L432M|HOXD3_ENST00000410016.1_Missense_Mutation_p.L432M	p.L432M			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3384	+			432					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1294C>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720142	0.68844	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.96232	-3.95;-3.95;-3.95	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	D	0.97999	0.9341	M	0.78049	2.395	0.50632	D	0.999887	D	0.71674	0.998	D	0.77557	0.99	D	0.98844	1.0756	10	0.87932	D	0	.	18.3539	0.90351	0.0:1.0:0.0:0.0	.	432	P31249	HXD3_HUMAN	M	432	ENSP00000424734:L432M;ENSP00000386498:L432M;ENSP00000249440:L432M	ENSP00000249440:L432M	L	+	1	2	HOXD3	176745243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.698000	0.61789	2.576000	0.86940	0.491000	0.48974	CTG		0.647	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	14	1	0	0.0293803	1	0.0295506	6	14				
DNAJB8	165721	broad.mit.edu	37	3	128181497	128181497	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128181497G>A	ENST00000469083.1	-	2	3149	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R198C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	198					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.R198C(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCACGATGCGCTTGGTGGTG	0.602																																						ENST00000469083.1																			1	Substitution - Missense(1)	p.R198C(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(592-594)Cgc>Tgc		DnaJ (Hsp40) homolog, subfamily B, member 8							154.0	125.0	134.0					3																	128181497		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181497G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.592C>T	3.37:g.128181497G>A	ENSP00000417418:p.Arg198Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R198C	p.R198C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3149	-			198					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.592C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101449	0.37048	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.49432	0.78;0.78	4.75	1.68	0.24146	.	0.131699	0.47455	D	0.000229	T	0.65709	0.2717	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	T	0.72181	-0.4368	10	0.87932	D	0	.	11.8136	0.52195	0.0:0.0:0.3542:0.6457	.	198	Q8NHS0	DNJB8_HUMAN	C	198	ENSP00000417418:R198C;ENSP00000316053:R198C	ENSP00000316053:R198C	R	-	1	0	DNAJB8	129664187	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	4.227000	0.58612	0.399000	0.25367	-0.310000	0.09108	CGC		0.602	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		26	37	0	0	0	1	0	26	37				
SCAMP2	10066	broad.mit.edu	37	15	75146410	75146410	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75146410C>T	ENST00000268099.9	-	3	286	c.177G>A	c.(175-177)caG>caA	p.Q59Q		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	59					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAACCGCTGGCTGTGAGGACC	0.527																																						ENST00000268099.9																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(175-177)caG>caA		secretory carrier membrane protein 2							119.0	109.0	113.0					15																	75146410		2197	4295	6492	SO:0001819	synonymous_variant	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75146410C>T	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.177G>A	15.37:g.75146410C>T							p.Q59Q	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN			3	286	-			59					B2RDF0|Q9BQE8	Silent	SNP	ENST00000268099.9	37	c.177G>A	CCDS10271.1																																																																																				0.527	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		15	17	0	0	0	1	0	15	17				
DLL1	28514	broad.mit.edu	37	6	170594702	170594702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:170594702G>A	ENST00000366756.3	-	6	1150	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	273	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGTTGCACTGCCAGGGCTGC	0.627																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(817-819)Cag>Tag		delta-like 1 (Drosophila)							39.0	47.0	44.0					6																	170594702		2203	4300	6503	SO:0001587	stop_gained	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594702G>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.817C>T	6.37:g.170594702G>A	ENSP00000355718:p.Gln273*						p.Q273*	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1150	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	273			EGF-like 2.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Nonsense_Mutation	SNP	ENST00000366756.3	37	c.817C>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	41	8.770183	0.98948	.	.	ENSG00000198719	ENST00000366756	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.4705	0.90773	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000355718:Q273X	Q	-	1	0	DLL1	170436627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.376000	0.81061	0.563000	0.77884	CAG		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			20	23	0	0	0	1	0	20	23				
BCL11B	64919	broad.mit.edu	37	14	99640796	99640796	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99640796G>A	ENST00000357195.3	-	4	2386	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	BCL11B_ENST00000345514.2_Missense_Mutation_p.R722C|BCL11B_ENST00000443726.2_Missense_Mutation_p.R599C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	793					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCGCTGCGGCGGCCCTCCTTG	0.736			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2164-2166)Cgc>Tgc		B-cell CLL/lymphoma 11B (zinc finger protein)							12.0	12.0	12.0					14																	99640796		2182	4250	6432	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640796G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2377C>T	14.37:g.99640796G>A	ENSP00000349723:p.Arg793Cys					BCL11B_ENST00000357195.3_Missense_Mutation_p.R793C|BCL11B_ENST00000443726.2_Missense_Mutation_p.R599C	p.R722C	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2430	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	793					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2164C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098168	0.56183	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13901	2.57;2.57;2.55	4.48	4.48	0.54585	.	0.104565	0.37053	N	0.002280	T	0.34861	0.0912	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.09773	-1.0659	10	0.87932	D	0	-15.2137	12.601	0.56497	0.0:0.0:0.8339:0.1661	.	722;793	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	C	793;722;599	ENSP00000349723:R793C;ENSP00000280435:R722C;ENSP00000387419:R599C	ENSP00000280435:R722C	R	-	1	0	BCL11B	98710549	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	3.767000	0.55288	2.205000	0.71048	0.561000	0.74099	CGC		0.736	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	3	0	0	0	1	0	5	3				
DEPDC5	9681	broad.mit.edu	37	22	32272191	32272191	+	Missense_Mutation	SNP	C	C	T	rs147817091		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32272191C>T	ENST00000382112.3	+	36	3788	c.3718C>T	c.(3718-3720)Cgg>Tgg	p.R1240W	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1149W|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R1249W|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R66W|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1227W|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1249W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1218W|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1218W	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1249	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGAAGCCTGGCGGACCTTCAT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16567	0.0		0.0	False		,,,				2504	0.0					ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3745-3747)Cgg>Tgg		DEP domain containing 5							163.0	157.0	159.0					22																	32272191		1904	4134	6038	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32272191C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3718C>T	22.37:g.32272191C>T	ENSP00000371546:p.Arg1240Trp					DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1227W|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1149W|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1218W|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1249W|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R66W|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1240W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1218W	p.R1249W			O75140	DEPD5_HUMAN			37	3887	+			1218					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3745C>T	CCDS46692.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	24.6|24.6	4.545761|4.545761	0.86022|0.86022	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.27|5.27	4.25|4.25	0.50352|0.50352	.|DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.067862	.|0.64402	.|D	.|0.000018	T|T	0.44891|0.44891	0.1315|0.1315	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.997;0.998;0.998	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.72032	.|D	.|0.01	.|.	12.4372|12.4372	0.55606|0.55606	0.3038:0.6962:0.0:0.0|0.3038:0.6962:0.0:0.0	.|.	.|1249;1149;635;1227;1240;1218	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	V|W	624|1149;1227;1218;1149;1249;1240;1249;1218;66	.|ENSP00000440210:R1149W;ENSP00000266091:R1227W;ENSP00000383108:R1218W;ENSP00000383105:R1249W;ENSP00000371546:R1240W;ENSP00000371545:R1249W;ENSP00000383107:R1218W;ENSP00000446286:R66W	.|ENSP00000266091:R1227W	A|R	+|+	2|1	0|2	DEPDC5|DEPDC5	30602191|30602191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.573000|2.573000	0.46007|0.46007	1.217000|1.217000	0.43442|0.43442	0.645000|0.645000	0.84053|0.84053	GCG|CGG		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		41	76	0	0	0	1	0	41	76				
RANBP3	8498	broad.mit.edu	37	19	5925679	5925679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5925679C>T	ENST00000340578.6	-	10	940	c.883G>A	c.(883-885)Gca>Aca	p.A295T	RANBP3_ENST00000034275.8_Missense_Mutation_p.A227T|RANBP3_ENST00000591092.1_Missense_Mutation_p.A222T|RANBP3_ENST00000439268.2_Missense_Mutation_p.A290T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A167T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	295					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TAGTTCGTTGCGGTTGGCGTG	0.587																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(883-885)Gca>Aca		RAN binding protein 3							80.0	89.0	86.0					19																	5925679		2122	4226	6348	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5925679C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.883G>A	19.37:g.5925679C>T	ENSP00000341483:p.Ala295Thr					RANBP3_ENST00000591092.1_Missense_Mutation_p.A222T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A167T|RANBP3_ENST00000034275.8_Missense_Mutation_p.A227T|RANBP3_ENST00000439268.2_Missense_Mutation_p.A290T	p.A295T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			10	940	-			295					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.883G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117399	0.56505	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.33865	1.39;1.4;2.15;1.41	5.19	5.19	0.71726	.	0.342924	0.34802	N	0.003662	T	0.41305	0.1153	M	0.63428	1.95	0.35594	D	0.807355	P;D;P;P;P;D;D	0.63880	0.92;0.987;0.87;0.87;0.92;0.993;0.987	B;B;B;B;B;P;B	0.46758	0.321;0.326;0.129;0.129;0.254;0.526;0.326	T	0.51164	-0.8740	10	0.27082	T	0.32	-22.7138	14.6031	0.68456	0.0:1.0:0.0:0.0	.	167;290;167;222;227;290;295	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	T	295;290;227;226;167	ENSP00000341483:A295T;ENSP00000404837:A290T;ENSP00000034275:A227T;ENSP00000445071:A167T	ENSP00000034275:A227T	A	-	1	0	RANBP3	5876679	0.993000	0.37304	0.164000	0.22755	0.493000	0.33554	4.375000	0.59549	2.583000	0.87209	0.561000	0.74099	GCA		0.587	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		16	63	0	0	0	1	0	16	63				
CDC37	11140	broad.mit.edu	37	19	10505948	10505948	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10505948C>A	ENST00000222005.2	-	4	612	c.559G>T	c.(559-561)Gcc>Tcc	p.A187S		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	187					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGTAATTGGCTGTCTCCTCG	0.577																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(559-561)Gcc>Tcc		cell division cycle 37							234.0	202.0	213.0					19																	10505948		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505948C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.559G>T	19.37:g.10505948C>A	ENSP00000222005:p.Ala187Ser						p.A187S	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	612	-			187					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.559G>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534706	0.85812	.	.	ENSG00000105401	ENST00000222005	T	0.46063	0.88	4.01	4.01	0.46588	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.87827	2.91	0.80722	D	1	P;P	0.51449	0.945;0.945	P;P	0.59889	0.865;0.865	T	0.72962	-0.4132	10	0.72032	D	0.01	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	187;187	Q6FG59;Q16543	.;CDC37_HUMAN	S	187	ENSP00000222005:A187S	ENSP00000222005:A187S	A	-	1	0	CDC37	10366948	1.000000	0.71417	0.919000	0.36401	0.896000	0.52359	7.035000	0.76517	1.948000	0.56530	0.462000	0.41574	GCC		0.577	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		9	155	1	0	3.86212e-05	1	3.97146e-05	9	155				
PI4KB	5298	broad.mit.edu	37	1	151278675	151278675	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151278675C>T	ENST00000368873.1	-	5	1515	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	PI4KB_ENST00000368874.4_Silent_p.V434V|PI4KB_ENST00000368872.1_Silent_p.V434V|PI4KB_ENST00000529142.1_Silent_p.V117V|PI4KB_ENST00000271657.5_Silent_p.V461V|PI4KB_ENST00000368875.2_Silent_p.V461V			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	449					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAGTTGGGCACAGTGCTGA	0.567																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1381-1383)gtG>gtA		phosphatidylinositol 4-kinase, catalytic, beta							116.0	96.0	103.0					1																	151278675		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278675C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1347G>A	1.37:g.151278675C>T						PI4KB_ENST00000368873.1_Silent_p.V449V|PI4KB_ENST00000529142.1_Silent_p.V117V|PI4KB_ENST00000271657.5_Silent_p.V461V|PI4KB_ENST00000368872.1_Silent_p.V434V|PI4KB_ENST00000368874.4_Silent_p.V434V	p.V461V	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1963	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		449					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.1383G>A																																																																																					0.567	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		30	37	0	0	0	1	0	30	37				
KCNU1	157855	broad.mit.edu	37	8	36698503	36698503	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36698503T>C	ENST00000399881.3	+	16	1722	c.1685T>C	c.(1684-1686)cTc>cCc	p.L562P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TACAAGTCCCTCTTTACGGAT	0.403																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1684-1686)cTc>cCc		potassium channel, subfamily U, member 1							168.0	150.0	156.0					8																	36698503		1958	4151	6109	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698503T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1685T>C	8.37:g.36698503T>C	ENSP00000382770:p.Leu562Pro						p.L562P	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	16	1722	+			562						Missense_Mutation	SNP	ENST00000399881.3	37	c.1685T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	8.707	0.911141	0.17833	.	.	ENSG00000215262	ENST00000399881	T	0.31769	1.48	5.06	-10.1	0.00402	.	.	.	.	.	T	0.13586	0.0329	L	0.34521	1.04	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.06373	-1.0830	9	0.34782	T	0.22	-4.8726	2.8144	0.05452	0.189:0.4645:0.1931:0.1534	.	562	A8MYU2	KCNU1_HUMAN	P	562	ENSP00000382770:L562P	ENSP00000382770:L562P	L	+	2	0	KCNU1	36817661	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.737000	0.04877	-1.794000	0.01256	0.528000	0.53228	CTC		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		11	19	0	0	0	1	0	11	19				
PC	5091	broad.mit.edu	37	11	66620277	66620277	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66620277G>A	ENST00000393958.2	-	13	1637	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	PC_ENST00000393955.2_Missense_Mutation_p.P515L|PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.P515L|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	515					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GACGGGAATCGGGGTGGTTGG	0.627																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1543-1545)cCg>cTg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						94.0	87.0	89.0					11																	66620277		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620277G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1544C>T	11.37:g.66620277G>A	ENSP00000377530:p.Pro515Leu					PC_ENST00000393955.2_Missense_Mutation_p.P515L|PC_ENST00000393958.2_Missense_Mutation_p.P515L	p.P515L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	14	1825	-		Melanoma(852;0.0525)	515					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1544C>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285291	0.59867	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.95690	-3.78;-3.78;-3.78	5.53	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	L	0.33245	0.995	0.80722	D	1	P	0.34837	0.472	B	0.25140	0.058	D	0.87995	0.2752	10	0.31617	T	0.26	-31.7116	11.4026	0.49878	0.0863:0.0:0.9137:0.0	.	515	P11498	PYC_HUMAN	L	515	ENSP00000377527:P515L;ENSP00000377530:P515L;ENSP00000377532:P515L	ENSP00000377527:P515L	P	-	2	0	PC	66376853	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	4.716000	0.61916	2.605000	0.88082	0.655000	0.94253	CCG		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	30	0	0	0	1	0	7	30				
FBXL18	80028	broad.mit.edu	37	7	5541110	5541110	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5541110C>T	ENST00000382368.3	-	3	913	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A264T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	264									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ATGAGGAAGGCGTGGAGGTTC	0.652																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(790-792)Gcc>Acc		F-box and leucine-rich repeat protein 18							41.0	48.0	46.0					7																	5541110		2127	4225	6352	SO:0001583	missense	80028							g.chr7:5541110C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.790G>A	7.37:g.5541110C>T	ENSP00000371805:p.Ala264Thr					FBXL18_ENST00000453700.3_Missense_Mutation_p.A264T	p.A264T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	913	-		Ovarian(82;0.0607)	264					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.790G>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183657	0.78677	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.51817	0.73;0.69	5.54	5.54	0.83059	.	0.218482	0.47093	D	0.000243	T	0.29223	0.0727	N	0.19112	0.55	0.43814	D	0.996375	P;P	0.43314	0.803;0.803	B;B	0.28849	0.095;0.095	T	0.10917	-1.0609	10	0.19147	T	0.46	.	18.4757	0.90791	0.0:1.0:0.0:0.0	.	264;264	F5H4Z4;Q96ME1-4	.;.	T	264	ENSP00000371805:A264T;ENSP00000444797:A264T	ENSP00000311990:A264T	A	-	1	0	FBXL18	5507636	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	4.892000	0.63193	2.615000	0.88500	0.655000	0.94253	GCC		0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		12	12	0	0	0	1	0	12	12				
TOR4A	54863	broad.mit.edu	37	9	140173475	140173475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140173475C>T	ENST00000357503.2	+	2	530	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	112					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GTATCGGCCGCGCGTGGAGCA	0.662																																						ENST00000357503.2																			0											c.(334-336)Cgc>Tgc		torsin family 4, member A							13.0	12.0	12.0					9																	140173475		2196	4294	6490	SO:0001583	missense	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173475C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.334C>T	9.37:g.140173475C>T	ENSP00000350102:p.Arg112Cys						p.R112C	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	530	+			112					A2BFA4	Missense_Mutation	SNP	ENST00000357503.2	37	c.334C>T	CCDS7041.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615651	0.46631	.	.	ENSG00000198113	ENST00000357503	T	0.58940	0.3	3.21	3.21	0.36854	.	0.344419	0.23454	N	0.048008	T	0.47691	0.1459	L	0.29908	0.895	0.29010	N	0.886954	D	0.69078	0.997	P	0.47044	0.535	T	0.47407	-0.9120	10	0.49607	T	0.09	-4.5614	10.1651	0.42875	0.0:1.0:0.0:0.0	.	112	Q9NXH8	CI167_HUMAN	C	112	ENSP00000350102:R112C	ENSP00000350102:R112C	R	+	1	0	C9orf167	139293296	0.025000	0.19082	0.695000	0.30226	0.964000	0.63967	0.384000	0.20668	2.097000	0.63578	0.561000	0.74099	CGC		0.662	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		3	7	0	0	0	1	0	3	7				
CSMD3	114788	broad.mit.edu	37	8	113323358	113323358	+	Silent	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113323358T>A	ENST00000297405.5	-	50	7978	c.7734A>T	c.(7732-7734)ggA>ggT	p.G2578G	CSMD3_ENST00000455883.2_Silent_p.G2474G|CSMD3_ENST00000343508.3_Silent_p.G2538G|CSMD3_ENST00000352409.3_Silent_p.G2508G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2578	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAATATATCCATGAGGTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7732-7734)ggA>ggT		CUB and Sushi multiple domains 3							109.0	96.0	101.0					8																	113323358		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113323358T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7734A>T	8.37:g.113323358T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.G2538G|CSMD3_ENST00000352409.3_Silent_p.G2508G|CSMD3_ENST00000455883.2_Silent_p.G2474G	p.G2578G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			50	7978	-			2578			Sushi 14.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7734A>T	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		39	32	0	0	0	1	0	39	32				
CHRNA4	1137	broad.mit.edu	37	20	61982381	61982381	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61982381T>C	ENST00000370263.4	-	5	605		c.e5-2		CHRNA4_ENST00000463705.1_Splice_Site	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)						action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCGTCAGCACTGGGCAGGAAG	0.652																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.e5-2		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						31.0	31.0	31.0					20																	61982381		2201	4300	6501	SO:0001630	splice_region_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982381T>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.384-2A>G	20.37:g.61982381T>C						CHRNA4_ENST00000463705.1_Splice_Site		NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	605	-	all_cancers(38;1.71e-10)							Q4JGR7|Q4VAQ5|Q4VAQ6	Splice_Site	SNP	ENST00000370263.4	37		CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328934	0.24167	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4626	0.67462	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRNA4	61452825	1.000000	0.71417	0.349000	0.25694	0.011000	0.07611	6.133000	0.71682	1.806000	0.52798	0.459000	0.35465	.		0.652	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		Intron	3	11	0	0	0	1	0	3	11				
TP53BP1	7158	broad.mit.edu	37	15	43720314	43720314	+	Missense_Mutation	SNP	C	C	T	rs375277812		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43720314C>T	ENST00000263801.3	-	18	3965	c.3713G>A	c.(3712-3714)cGt>cAt	p.R1238H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1243H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1243H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1238					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTCATGTGACGATGTAAGAC	0.438								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3712-3714)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	232.0	200.0	211.0		3728,3728,3713	5.5	1.0	15		211	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	TP53BP1	NM_001141979.1,NM_001141980.1,NM_005657.2	29,29,29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1243/1976,1243/1978,1238/1973	43720314	1,12997	2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43720314C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3713G>A	15.37:g.43720314C>T	ENSP00000263801:p.Arg1238His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1243H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1243H	p.R1238H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	18	3965	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1238					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3713G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589927	0.96590	0.0	1.16E-4	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.09073	3.15;3.15;3.02;3.14	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00473	-1.1718	10	0.72032	D	0.01	-8.1402	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1243;1238;1243;1243	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1238;1243;1243;1243	ENSP00000263801:R1238H;ENSP00000371475:R1243H;ENSP00000371470:R1243H;ENSP00000393497:R1243H	ENSP00000263801:R1238H	R	-	2	0	TP53BP1	41507606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.467000	0.60155	2.747000	0.94245	0.650000	0.86243	CGT		0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			46	54	0	0	0	1	0	46	54				
OR6C65	403282	broad.mit.edu	37	12	55795143	55795143	+	Silent	SNP	C	C	A	rs138141433		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55795143C>A	ENST00000379665.2	+	1	930	c.831C>A	c.(829-831)acC>acA	p.T277T		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGCTTAATACCTCTGTTGCTC	0.368																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(829-831)acC>acA		olfactory receptor, family 6, subfamily C, member 65							82.0	78.0	80.0					12																	55795143		2203	4300	6503	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795143C>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.831C>A	12.37:g.55795143C>A							p.T277T	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	930	+			277					B2RNH9	Silent	SNP	ENST00000379665.2	37	c.831C>A	CCDS31821.1																																																																																				0.368	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			14	31	1	0	4.36969e-10	1	4.65946e-10	14	31				
MSH6	2956	broad.mit.edu	37	2	48026577	48026577	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026577G>A	ENST00000234420.5	+	4	1607	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	MSH6_ENST00000538136.1_Silent_p.Q183Q|MSH6_ENST00000540021.1_Silent_p.Q355Q|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	485					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGTGGAACAGACTGAGACTC	0.463			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1453-1455)caG>caA	Mismatch excision repair (MMR)	mutS homolog 6							89.0	82.0	84.0					2																	48026577		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026577G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1455G>A	2.37:g.48026577G>A						MSH6_ENST00000538136.1_Silent_p.Q183Q|MSH6_ENST00000540021.1_Silent_p.Q355Q|FBXO11_ENST00000405808.1_Intron	p.Q485Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1607	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	485					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1455G>A	CCDS1836.1																																																																																				0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		21	20	0	0	0	1	0	21	20				
SERTAD4	56256	broad.mit.edu	37	1	210415061	210415061	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210415061C>T	ENST00000367012.3	+	4	680	c.450C>T	c.(448-450)tgC>tgT	p.C150C	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	150						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		ATAACTGGTGCTTCCCTGCCT	0.453																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(448-450)tgC>tgT		SERTA domain containing 4							128.0	131.0	130.0					1																	210415061		2203	4300	6503	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415061C>T	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.450C>T	1.37:g.210415061C>T						SERTAD4_ENST00000490620.1_3'UTR	p.C150C	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	680	+			150					B2RD32	Silent	SNP	ENST00000367012.3	37	c.450C>T	CCDS1494.1																																																																																				0.453	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		34	51	0	0	0	1	0	34	51				
TUBGCP2	10844	broad.mit.edu	37	10	135098974	135098974	+	Silent	SNP	C	C	T	rs370556173		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135098974C>T	ENST00000252936.3	-	11	1920	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	TUBGCP2_ENST00000368562.1_Silent_p.S220S|TUBGCP2_ENST00000543663.1_Silent_p.S655S|TUBGCP2_ENST00000368563.2_Silent_p.S627S|TUBGCP2_ENST00000417178.2_Silent_p.S497S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	627					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGATGATGAGCGAAAGGGGCC	0.637																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1879-1881)tcG>tcA		tubulin, gamma complex associated protein 2							39.0	43.0	42.0					10																	135098974		2202	4300	6502	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135098974C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1881G>A	10.37:g.135098974C>T						TUBGCP2_ENST00000252936.3_Silent_p.S627S|TUBGCP2_ENST00000368562.1_Silent_p.S220S|TUBGCP2_ENST00000543663.1_Silent_p.S655S|TUBGCP2_ENST00000417178.2_Silent_p.S497S	p.S627S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	12	2237	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	627					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1881G>A	CCDS7676.1																																																																																				0.637	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			5	4	0	0	0	1	0	5	4				
MYH8	4626	broad.mit.edu	37	17	10307651	10307651	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10307651T>C	ENST00000403437.2	-	22	2778	c.2684A>G	c.(2683-2685)cAa>cGa	p.Q895R	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	895					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCACAGATTGAACCTGGAG	0.373									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2683-2685)cAa>cGa		myosin, heavy chain 8, skeletal muscle, perinatal							114.0	103.0	107.0					17																	10307651		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10307651T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2684A>G	17.37:g.10307651T>C	ENSP00000384330:p.Gln895Arg					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q895R	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			22	2778	-			895					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2684A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548836	0.65311	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.93763	-3.28	5.31	5.31	0.75309	.	0.000000	0.40064	U	0.001184	D	0.95971	0.8688	M	0.93720	3.45	0.32555	N	0.531922	P	0.45957	0.869	P	0.49829	0.623	D	0.98808	1.0742	10	0.87932	D	0	.	11.4363	0.50070	0.0:0.0:0.1505:0.8495	.	895	P13535	MYH8_HUMAN	R	895	ENSP00000384330:Q895R	ENSP00000252173:Q895R	Q	-	2	0	MYH8	10248376	0.943000	0.32029	1.000000	0.80357	0.973000	0.67179	1.988000	0.40697	2.231000	0.72958	0.533000	0.62120	CAA		0.373	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		11	57	0	0	0	1	0	11	57				
GLTSCR2	29997	broad.mit.edu	37	19	48259855	48259855	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48259855G>T	ENST00000246802.5	+	11	1405	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	456				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413). {ECO:0000305}.|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCTCGAGAGAGAGCCAAGTAA	0.617																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1366-1368)aGa>aTa		glioma tumor suppressor candidate region gene 2							42.0	47.0	45.0					19																	48259855		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48259855G>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1367G>T	19.37:g.48259855G>T	ENSP00000246802:p.Arg456Ile					GLTSCR2_ENST00000598681.1_3'UTR	p.R456I	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	11	1405	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	456	EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1367G>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736443	0.89482	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.34859	1.34	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42447	-0.9451	10	0.62326	D	0.03	-11.8295	13.5075	0.61491	0.0:0.0:1.0:0.0	.	456	Q9NZM5	GSCR2_HUMAN	I	456;450;241	ENSP00000246802:R456I	ENSP00000246802:R456I	R	+	2	0	GLTSCR2	52951667	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.204000	0.77872	2.657000	0.90304	0.655000	0.94253	AGA		0.617	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		8	18	1	0	0.000274275	1	0.000279654	8	18				
OR51D1	390038	broad.mit.edu	37	11	4661076	4661076	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4661076T>C	ENST00000357605.2	+	1	132	c.56T>C	c.(55-57)gTc>gCc	p.V19A		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAAATCTGGTCCACGCAGCA	0.488																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(55-57)gTc>gCc		olfactory receptor, family 51, subfamily D, member 1							164.0	148.0	154.0					11																	4661076		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661076T>C	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.56T>C	11.37:g.4661076T>C	ENSP00000350222:p.Val19Ala						p.V19A	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	132	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	19					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.56T>C	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	T	0.746	-0.774675	0.02951	.	.	ENSG00000197428	ENST00000357605	T	0.37584	1.19	4.59	3.47	0.39725	.	0.746604	0.11457	N	0.562220	T	0.28366	0.0701	L	0.48642	1.525	0.23492	N	0.99756	B	0.02656	0.0	B	0.06405	0.002	T	0.26395	-1.0104	10	0.19147	T	0.46	.	6.7153	0.23300	0.0:0.1067:0.0:0.8933	.	19	Q8NGF3	O51D1_HUMAN	A	19	ENSP00000350222:V19A	ENSP00000350222:V19A	V	+	2	0	OR51D1	4617652	0.291000	0.24352	0.989000	0.46669	0.001000	0.01503	0.663000	0.25053	0.901000	0.36495	0.455000	0.32223	GTC		0.488	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		13	117	0	0	0	1	0	13	117				
APBB1IP	54518	broad.mit.edu	37	10	26856412	26856412	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26856412T>A	ENST00000376236.4	+	15	2451	c.1996T>A	c.(1996-1998)Tcc>Acc	p.S666T		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	666					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGCAACGTGTCCTAGGGACG	0.552																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1996-1998)Tcc>Acc		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							51.0	48.0	49.0					10																	26856412		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26856412T>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1996T>A	10.37:g.26856412T>A	ENSP00000365411:p.Ser666Thr						p.S666T	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			15	2451	+			666					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1996T>A	CCDS31167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.82|14.82	2.648861|2.648861	0.47362|0.47362	.|.	.|.	ENSG00000077420|ENSG00000077420	ENST00000376236|ENST00000445780	T|.	0.34072|.	1.38|.	5.36|5.36	-5.97|-5.97	0.02227|0.02227	.|.	0.779066|.	0.12086|.	N|.	0.500868|.	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.46741|0.46741	1.465|1.465	0.34053|0.34053	D|D	0.656372|0.656372	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|T	0.53521|0.53521	-0.8427|-0.8427	10|6	0.66056|0.87932	D|D	0.02|0	.|.	2.9154|2.9154	0.05751|0.05751	0.1116:0.3232:0.3425:0.2227|0.1116:0.3232:0.3425:0.2227	.|.	666|.	Q7Z5R6|.	AB1IP_HUMAN|.	T|D	666|609	ENSP00000365411:S666T|.	ENSP00000365411:S666T|ENSP00000412699:V609D	S|V	+|+	1|2	0|0	APBB1IP|APBB1IP	26896418|26896418	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.021000|0.021000	0.10359|0.10359	-0.382000|-0.382000	0.07408|0.07408	-1.540000|-1.540000	0.01730|0.01730	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.552	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		12	7	0	0	0	1	0	12	7				
DHX15	1665	broad.mit.edu	37	4	24544563	24544563	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:24544563C>T	ENST00000336812.4	-	7	1491	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	445	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAATATGTACCTTCTGTTTCG	0.328																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.e7+1		DEAH (Asp-Glu-Ala-His) box helicase 15							112.0	105.0	108.0					4																	24544563		2203	4300	6503	SO:0001630	splice_region_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24544563C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1335+1G>A	4.37:g.24544563C>T							p.K445_splice	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			7	1491	-		Breast(46;0.0503)	445			Helicase C-terminal.		Q9NQT7	Splice_Site	SNP	ENST00000336812.4	37	c.1335_splice	CCDS33966.1																																																																																				0.328	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	Silent	21	44	0	0	0	1	0	21	44				
GALNT13	114805	broad.mit.edu	37	2	155098657	155098657	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:155098657C>T	ENST00000392825.3	+	5	993	c.426C>T	c.(424-426)tcC>tcT	p.S142S	GALNT13_ENST00000409237.1_Silent_p.S142S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	142	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAAATCGTTCCCCACACTATC	0.373																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(424-426)tcC>tcT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							129.0	119.0	123.0					2																	155098657		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098657C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.426C>T	2.37:g.155098657C>T						GALNT13_ENST00000409237.1_Silent_p.S142S	p.S142S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			5	993	+			142			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.426C>T	CCDS2199.1																																																																																				0.373	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		11	29	0	0	0	1	0	11	29				
SORBS2	8470	broad.mit.edu	37	4	186536198	186536198	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186536198C>T	ENST00000284776.7	-	16	3264		c.e16+1		SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000431808.1_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						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)			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)		AGAGGACCTACCTCTACGTAT	0.458																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.e17+1		sorbin and SH3 domain containing 2							135.0	129.0	131.0					4																	186536198		2203	4300	6503	SO:0001630	splice_region_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.chr4:186536198C>T		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.2754+1G>A	4.37:g.186536198C>T						SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000284776.7_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site				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)	17	3318	-		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)						A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Splice_Site	SNP	ENST00000284776.7	37		CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176180	0.57692	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS2	186773192	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	7.802000	0.85969	2.937000	0.99478	0.650000	0.86243	.		0.458	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Intron	10	35	0	0	0	1	0	10	35				
PCNT	5116	broad.mit.edu	37	21	47851715	47851715	+	Silent	SNP	C	C	T	rs572339918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47851715C>T	ENST00000359568.5	+	38	8444	c.8337C>T	c.(8335-8337)tgC>tgT	p.C2779C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.C2779C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGGCTTGCGTGCACCAGG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0					ENST00000359568.5																			1	Substitution - coding silent(1)	p.C2779C(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8335-8337)tgC>tgT		pericentrin							35.0	36.0	35.0					21																	47851715		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851715C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8337C>T	21.37:g.47851715C>T						PCNT_ENST00000480896.1_3'UTR	p.C2779C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8444	+	Breast(49;0.112)		2779					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8337C>T	CCDS33592.1																																																																																				0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	6	0	0	0	1	0	5	6				
MYRF	745	broad.mit.edu	37	11	61537762	61537762	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61537762G>A	ENST00000278836.5	+	5	601	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.V160M	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	169	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACTGTGCCACGTGGGAGTGCC	0.687																																						ENST00000278836.5																			0											c.(505-507)Gtg>Atg		myelin regulatory factor							22.0	20.0	21.0					11																	61537762		2199	4299	6498	SO:0001583	missense	745							g.chr11:61537762G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.505G>A	11.37:g.61537762G>A	ENSP00000278836:p.Val169Met					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.V160M	p.V169M	NM_001127392.1	NP_001120864.1					5	601	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.505G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102061	0.56183	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.30981	1.51;1.52	4.55	4.55	0.56014	.	0.229124	0.44285	D	0.000461	T	0.10809	0.0264	N	0.04508	-0.205	0.80722	D	1	P;P	0.39352	0.626;0.669	B;B	0.27608	0.081;0.046	T	0.10428	-1.0630	10	0.30854	T	0.27	-24.4155	8.7171	0.34419	0.2191:0.0:0.7809:0.0	.	160;169	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	M	169;160	ENSP00000278836:V169M;ENSP00000265460:V160M	ENSP00000265460:V160M	V	+	1	0	C11orf9	61294338	0.995000	0.38212	0.999000	0.59377	0.963000	0.63663	2.126000	0.42026	2.469000	0.83416	0.549000	0.68633	GTG		0.687	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		6	5	0	0	0	1	0	6	5				
ARHGEF12	23365	broad.mit.edu	37	11	120348948	120348948	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120348948C>T	ENST00000397843.2	+	37	3782	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1187C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1103C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1206					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCAGAGGTACGTGATCTGTT	0.413			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3616-3618)Cgt>Tgt		Rho guanine nucleotide exchange factor (GEF) 12							93.0	86.0	88.0					11																	120348948		1889	4126	6015	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348948C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3616C>T	11.37:g.120348948C>T	ENSP00000380942:p.Arg1206Cys					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1103C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1187C	p.R1206C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3782	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1206					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3616C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388505	0.42308	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66099	-0.09;-0.19;-0.08	5.48	3.58	0.41010	.	0.799639	0.10802	N	0.632613	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	B;B	0.27498	0.18;0.113	B;B	0.11329	0.006;0.003	T	0.31696	-0.9934	10	0.72032	D	0.01	-0.0266	9.6058	0.39632	0.0803:0.1509:0.7687:0.0	.	1187;1206	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	C	1206;1187;1103	ENSP00000380942:R1206C;ENSP00000349056:R1187C;ENSP00000432984:R1103C	ENSP00000349056:R1187C	R	+	1	0	ARHGEF12	119854158	0.233000	0.23772	0.030000	0.17652	0.968000	0.65278	2.019000	0.41001	1.436000	0.47453	-0.165000	0.13383	CGT		0.413	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		31	48	0	0	0	1	0	31	48				
OGDH	4967	broad.mit.edu	37	7	44685060	44685060	+	Silent	SNP	C	C	T	rs116191385	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44685060C>T	ENST00000222673.5	+	3	399	c.357C>T	c.(355-357)aaC>aaT	p.N119N	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.N59N|OGDH_ENST00000447398.1_Silent_p.N119N|OGDH_ENST00000443864.2_Silent_p.N119N|OGDH_ENST00000449767.1_Silent_p.N119N|OGDH_ENST00000444676.1_Silent_p.N119N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	119					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CACAGCCCAACGTGGACAAGC	0.637													C|||	9	0.00179712	0.0061	0.0	5008	,	,		18649	0.0		0.001	False		,,,				2504	0.0					ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(355-357)aaC>aaT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	,,	13,4393	20.2+/-43.8	0,13,2190	77.0	69.0	72.0		357,357,357	-8.8	0.1	7	dbSNP_133	72	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDH	NM_001003941.2,NM_001165036.1,NM_002541.3	,,	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	,,	119/428,119/1020,119/1024	44685060	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44685060C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.357C>T	7.37:g.44685060C>T						OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Silent_p.N119N|OGDH_ENST00000444676.1_Silent_p.N119N|OGDH_ENST00000447398.1_Silent_p.N119N|OGDH_ENST00000543843.1_Silent_p.N59N|OGDH_ENST00000449767.1_Silent_p.N119N	p.N119N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	399	+			119					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.357C>T	CCDS34627.1																																																																																				0.637	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			13	15	0	0	0	1	0	13	15				
NEUROD1	4760	broad.mit.edu	37	2	182542533	182542533	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:182542533G>A	ENST00000295108.3	-	2	1512	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	352					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGAAATATGGCATTGAGCTG	0.507																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1054-1056)gCc>gTc		neuronal differentiation 1							154.0	148.0	150.0					2																	182542533		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542533G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.1055C>T	2.37:g.182542533G>A	ENSP00000295108:p.Ala352Val					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.A352V	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1512	-			352					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.1055C>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740871	0.69304	.	.	ENSG00000162992	ENST00000295108	D	0.97352	-4.35	5.6	5.6	0.85130	.	0.050689	0.85682	D	0.000000	D	0.97823	0.9285	M	0.72353	2.195	0.58432	D	0.999998	P	0.52316	0.952	P	0.55615	0.78	D	0.98440	1.0586	10	0.87932	D	0	-0.268	19.611	0.95606	0.0:0.0:1.0:0.0	.	352	Q13562	NDF1_HUMAN	V	352	ENSP00000295108:A352V	ENSP00000295108:A352V	A	-	2	0	NEUROD1	182250778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.990000	0.88215	2.625000	0.88918	0.650000	0.86243	GCC		0.507	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		55	96	0	0	0	1	0	55	96				
MYH14	79784	broad.mit.edu	37	19	50783375	50783375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50783375G>T	ENST00000596571.1	+	28	3991	c.3991G>T	c.(3991-3993)Gaa>Taa	p.E1331*	MYH14_ENST00000440075.2_Nonsense_Mutation_p.E1372*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.E1372*|MYH14_ENST00000425460.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000601313.1_Nonsense_Mutation_p.E1372*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.E1364*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.E1339*			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1331					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGCAGCACAGAAGCCCAGCT	0.622																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4114-4116)Gaa>Taa		myosin, heavy chain 14, non-muscle							56.0	65.0	62.0					19																	50783375		2191	4283	6474	SO:0001587	stop_gained	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50783375G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3991G>T	19.37:g.50783375G>T	ENSP00000472819:p.Glu1331*					MYH14_ENST00000425460.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000376970.2_Nonsense_Mutation_p.E1364*|MYH14_ENST00000262269.8_Nonsense_Mutation_p.E1372*|MYH14_ENST00000601313.1_Nonsense_Mutation_p.E1372*|MYH14_ENST00000598205.1_Nonsense_Mutation_p.E1339*|MYH14_ENST00000596571.1_Nonsense_Mutation_p.E1331*	p.E1372*			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	31	4161	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1331					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Nonsense_Mutation	SNP	ENST00000596571.1	37	c.4114G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	39	7.726547	0.98456	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.6516	0.56764	0.0:0.0:1.0:0.0	.	.	.	.	X	1331;1372;1364;1339;1372	.	ENSP00000262269:E1372X	E	+	1	0	MYH14	55475187	1.000000	0.71417	0.760000	0.31359	0.203000	0.24098	5.991000	0.70602	1.922000	0.55676	0.455000	0.32223	GAA		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		6	4	1	0	0.0293803	1	0.0295506	6	4				
TET3	200424	broad.mit.edu	37	2	74300738	74300738	+	Missense_Mutation	SNP	G	G	A	rs186320730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74300738G>A	ENST00000409262.3	+	2	2152	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	718					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACGGTCGCCTCTATCCG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18354	0.0		0.001	False		,,,				2504	0.0					ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2152-2154)Gcc>Acc		tet methylcytosine dioxygenase 3							41.0	45.0	44.0					2																	74300738		1857	4094	5951	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74300738G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2152G>A	2.37:g.74300738G>A	ENSP00000386869:p.Ala718Thr						p.A718T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			2	2152	+			718					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2152G>A	CCDS46339.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.4	5.006168	0.93287	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.38887	1.11	5.36	5.36	0.76844	TET cysteine-rich domain (1);	.	.	.	.	T	0.63402	0.2508	M	0.72894	2.215	0.49213	D	0.999762	D	0.76494	0.999	D	0.65443	0.935	T	0.62964	-0.6742	9	0.49607	T	0.09	.	18.0225	0.89259	0.0:0.0:1.0:0.0	.	718	O43151	TET3_HUMAN	T	718	ENSP00000386869:A718T	ENSP00000233310:A718T	A	+	1	0	TET3	74154246	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	5.974000	0.70465	2.763000	0.94921	0.655000	0.94253	GCC		0.448	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	9	0	0	0	1	0	5	9				
CYP2C19	1557	broad.mit.edu	37	10	96612526	96612526	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96612526T>A	ENST00000371321.3	+	9	1410	c.1328T>A	c.(1327-1329)aTg>aAg	p.M443K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	443					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTGGCCCGCATGGAGCTGTTT	0.428																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1327-1329)aTg>aAg		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139.0	131.0	134.0					10																	96612526		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612526T>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1328T>A	10.37:g.96612526T>A	ENSP00000360372:p.Met443Lys					CYP2C19_ENST00000464755.1_3'UTR	p.M443K	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1410	+		Colorectal(252;0.09)	443					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1328T>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327327	0.60743	.	.	ENSG00000165841	ENST00000371321	T	0.71698	-0.59	3.2	0.582	0.17412	.	0.000000	0.85682	U	0.000000	T	0.80824	0.4697	M	0.86097	2.795	0.34420	D	0.697324	D	0.71674	0.998	D	0.71656	0.974	T	0.81988	-0.0680	10	0.87932	D	0	.	6.1013	0.20049	0.0:0.2525:0.0:0.7475	.	443	P33261	CP2CJ_HUMAN	K	443	ENSP00000360372:M443K	ENSP00000360372:M443K	M	+	2	0	CYP2C19	96602516	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	4.133000	0.57983	0.210000	0.20664	0.491000	0.48974	ATG		0.428	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		38	70	0	0	0	1	0	38	70				
KSR1	8844	broad.mit.edu	37	17	25932771	25932771	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:25932771G>A	ENST00000319524.6	+	15	1992	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	KSR1_ENST00000268763.6_Silent_p.T527T|KSR1_ENST00000398988.3_Silent_p.T527T|KSR1_ENST00000509603.2_Silent_p.T642T			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	664	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCGGCAGACGCGGCATGAGA	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1579-1581)acG>acA		kinase suppressor of ras 1							20.0	22.0	22.0					17																	25932771		2051	4187	6238	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932771G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1992G>A	17.37:g.25932771G>A						KSR1_ENST00000319524.6_Silent_p.T664T|KSR1_ENST00000509603.2_Silent_p.T642T|KSR1_ENST00000268763.6_Silent_p.T527T	p.T527T	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2026	+	Lung NSC(42;0.00836)		662					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1581G>A		.	.	.	.	.	.	.	.	.	.	G	8.290	0.817523	0.16607	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.47432	0.1445	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60495	-0.7252	4	.	.	.	.	10.5325	0.44986	0.5092:0.2087:0.2821:0.0	.	.	.	.	T	378	.	.	A	+	1	0	KSR1	22956898	0.056000	0.20664	0.514000	0.27761	0.860000	0.49131	-0.765000	0.04730	-1.788000	0.01266	-1.686000	0.00732	GCG		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		12	11	0	0	0	1	0	12	11				
CCDC158	339965	broad.mit.edu	37	4	77292662	77292662	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77292662G>A	ENST00000388914.3	-	9	1209	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	353										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GAGTTGGCAAGGACTAACTGC	0.383																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1057-1059)Ctt>Ttt		coiled-coil domain containing 158							103.0	92.0	96.0					4																	77292662		1844	4089	5933	SO:0001583	missense	339965							g.chr4:77292662G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1057C>T	4.37:g.77292662G>A	ENSP00000373566:p.Leu353Phe						p.L353F	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			9	1209	-			353					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1057C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498651	0.64298	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.79033	-1.23	5.98	5.14	0.70334	.	0.138452	0.31092	N	0.008270	T	0.78629	0.4313	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80125	-0.1513	10	0.56958	D	0.05	.	10.5095	0.44853	0.1514:0.0:0.8486:0.0	.	353	Q5M9N0	CD158_HUMAN	F	353	ENSP00000373566:L353F	ENSP00000316815:L353F	L	-	1	0	CCDC158	77511686	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	2.650000	0.46665	1.549000	0.49425	0.644000	0.83932	CTT		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		22	41	0	0	0	1	0	22	41				
ADAM19	8728	broad.mit.edu	37	5	156918644	156918644	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156918644T>C	ENST00000517905.1	-	18	2118	c.2074A>G	c.(2074-2076)Agt>Ggt	p.S692G	ADAM19_ENST00000257527.4_Missense_Mutation_p.S692G|ADAM19_ENST00000430702.2_Missense_Mutation_p.S425G|ADAM19_ENST00000394020.1_Missense_Mutation_p.S694G			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	692					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAGGCCCACTGTCGATACTG	0.637																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2074-2076)Agt>Ggt		ADAM metallopeptidase domain 19							20.0	21.0	20.0					5																	156918644		2201	4298	6499	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156918644T>C	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2074A>G	5.37:g.156918644T>C	ENSP00000428654:p.Ser692Gly					ADAM19_ENST00000394020.1_Missense_Mutation_p.S694G|ADAM19_ENST00000517905.1_Missense_Mutation_p.S692G|ADAM19_ENST00000430702.2_Missense_Mutation_p.S425G	p.S692G	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	2152	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	692					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2074A>G		.	.	.	.	.	.	.	.	.	.	T	26.3	4.719664	0.89205	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.94522	0.8236	M	0.91196	3.185	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.81914	0.995;0.989;0.989	D	0.95651	0.8707	10	0.87932	D	0	.	14.5796	0.68278	0.0:0.0:0.0:1.0	.	692;692;425	Q9H013-2;Q9H013;E9PD32	.;ADA19_HUMAN;.	G	425;692;694;692	ENSP00000414088:S425G;ENSP00000257527:S692G;ENSP00000377588:S694G;ENSP00000428654:S692G	ENSP00000257527:S692G	S	-	1	0	ADAM19	156851222	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.040000	0.89188	1.854000	0.53819	0.460000	0.39030	AGT		0.637	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	7	0	0	0	1	0	7	7				
CUL1	8454	broad.mit.edu	37	7	148427245	148427245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:148427245G>A	ENST00000325222.4	+	2	310	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	CUL1_ENST00000409469.1_Missense_Mutation_p.G11S|CUL1_ENST00000602748.1_Missense_Mutation_p.G11S|AC005229.1_ENST00000578165.1_RNA	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	11					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)				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)			GAACCCCCACGGCCTGAAGCA	0.532																																						ENST00000325222.4																			0				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						c.(31-33)Ggc>Agc		cullin 1							108.0	103.0	105.0					7																	148427245		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.chr7:148427245G>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.31G>A	7.37:g.148427245G>A	ENSP00000326804:p.Gly11Ser					CUL1_ENST00000602748.1_Missense_Mutation_p.G11S|CUL1_ENST00000409469.1_Missense_Mutation_p.G11S	p.G11S	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	310	+	Melanoma(164;0.15)		11					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.31G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754322	0.89843	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.74209	-0.82;-0.82	5.79	5.79	0.91817	.	0.048888	0.85682	D	0.000000	T	0.61375	0.2342	N	0.26130	0.795	0.80722	D	1	B	0.29508	0.246	B	0.18871	0.023	T	0.59343	-0.7472	10	0.09843	T	0.71	-20.0358	20.0155	0.97477	0.0:0.0:1.0:0.0	.	11	Q13616	CUL1_HUMAN	S	11	ENSP00000387160:G11S;ENSP00000326804:G11S	ENSP00000326804:G11S	G	+	1	0	CUL1	148058178	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	9.507000	0.97996	2.742000	0.94016	0.591000	0.81541	GGC		0.532	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		32	37	0	0	0	1	0	32	37				
DCDC1	341019	broad.mit.edu	37	11	30922042	30922042	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:30922042T>C	ENST00000597505.1	-	31	4504	c.4505A>G	c.(4504-4506)aAt>aGt	p.N1502S	DCDC1_ENST00000339794.5_Missense_Mutation_p.N581S|DCDC1_ENST00000406071.2_Missense_Mutation_p.N240S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTCTTGGATTTTCTGGTGG	0.279																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4504-4506)aAt>aGt		doublecortin domain containing 1							77.0	67.0	71.0					11																	30922042		2198	4293	6491	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30922042T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4505A>G	11.37:g.30922042T>C	ENSP00000472625:p.Asn1502Ser					DCDC1_ENST00000406071.2_Missense_Mutation_p.N240S|DCDC1_ENST00000339794.5_Missense_Mutation_p.N581S	p.N1502S			P59894	DCDC1_HUMAN			31	4504	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4505A>G		.	.	.	.	.	.	.	.	.	.	T	9.273	1.046249	0.19748	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.95	3.63	0.41609	.	0.346810	0.28409	N	0.015447	T	0.30978	0.0782	L	0.49455	1.56	0.23933	N	0.996422	B	0.18461	0.028	B	0.17979	0.02	T	0.27606	-1.0069	9	0.12103	T	0.63	-8.5832	6.5838	0.22610	0.0:0.0805:0.1558:0.7637	.	581	Q6ZRR9	DCDC5_HUMAN	S	240;581	.	ENSP00000341700:N581S	N	-	2	0	DCDC5	30878618	0.026000	0.19158	0.561000	0.28357	0.161000	0.22273	-0.033000	0.12246	0.508000	0.28173	0.533000	0.62120	AAT		0.279	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		6	12	0	0	0	1	0	6	12				
PCIF1	63935	broad.mit.edu	37	20	44576010	44576010	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44576010C>T	ENST00000372409.3	+	16	2180	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	606					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCGCTTCAAACGCCACCAGTT	0.622																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1816-1818)Cgc>Tgc		PDX1 C-terminal inhibiting factor 1							56.0	50.0	52.0					20																	44576010		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44576010C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1816C>T	20.37:g.44576010C>T	ENSP00000361486:p.Arg606Cys					PCIF1_ENST00000479348.1_3'UTR	p.R606C	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			16	2180	+			606					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1816C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922864	0.73213	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.03	5.03	0.67393	Phosphorylated CTD interacting factor 1, WW domain (1);	0.059271	0.64402	D	0.000005	D	0.83751	0.5322	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86428	0.1759	9	0.72032	D	0.01	-24.1547	14.1532	0.65401	0.1501:0.8499:0.0:0.0	.	606;606	B7Z5U5;Q9H4Z3	.;PCIF1_HUMAN	C	606	.	ENSP00000361486:R606C	R	+	1	0	PCIF1	44009417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.493000	0.53266	2.616000	0.88540	0.455000	0.32223	CGC		0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		9	10	0	0	0	1	0	9	10				
LINC00471	151477	broad.mit.edu	37	2	232374032	232374032	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:232374032C>T	ENST00000313064.2	-	0	386					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		ATTCTTCCTGCAATTCTTATG	0.473																																						ENST00000313064.2																			0																				83.0	87.0	86.0					2																	232374032		2203	4300	6503			0							g.chr2:232374032C>T	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232374032C>T								NR_024079.1						0	386	-									RNA	SNP	ENST00000313064.2	37																																																																																						0.473	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		7	31	0	0	0	1	0	7	31				
FAM47C	442444	broad.mit.edu	37	X	37027856	37027856	+	Missense_Mutation	SNP	G	G	A	rs200849623		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:37027856G>A	ENST00000358047.3	+	1	1425	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	458										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGGGTGTCCAGT	0.632																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1372-1374)cGg>cAg		family with sequence similarity 47, member C							61.0	60.0	60.0					X																	37027856		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027856G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1373G>A	X.37:g.37027856G>A	ENSP00000367913:p.Arg458Gln						p.R458Q	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1425	+			458					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1373G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	6.815	0.519429	0.13005	.	.	ENSG00000198173	ENST00000358047	T	0.14266	2.52	1.46	-2.93	0.05598	.	.	.	.	.	T	0.04679	0.0127	L	0.28115	0.83	0.09310	N	1	P	0.36222	0.544	B	0.22880	0.042	T	0.37842	-0.9688	9	0.12766	T	0.61	.	0.2586	0.00215	0.3949:0.2095:0.1858:0.2097	.	458	Q5HY64	FA47C_HUMAN	Q	458	ENSP00000367913:R458Q	ENSP00000367913:R458Q	R	+	2	0	FAM47C	36937777	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-1.247000	0.02507	-1.239000	0.01543	CGG		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		47	7	0	0	0	1	0	47	7				
BAI2	576	broad.mit.edu	37	1	32207730	32207730	+	Silent	SNP	G	G	A	rs530331422		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32207730G>A	ENST00000373658.3	-	8	1682	c.1341C>T	c.(1339-1341)agC>agT	p.S447S	BAI2_ENST00000398542.1_Silent_p.S380S|BAI2_ENST00000440175.2_Silent_p.S89S|BAI2_ENST00000398547.1_Silent_p.S380S|BAI2_ENST00000257070.4_Silent_p.S447S|BAI2_ENST00000398538.1_Silent_p.S435S|BAI2_ENST00000398556.3_Silent_p.S395S|BAI2_ENST00000527361.1_Silent_p.S447S|BAI2_ENST00000373655.2_Silent_p.S447S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	447	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCCCGCCACGCTGCACTTCC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18783	0.0		0.0	False		,,,				2504	0.001					ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1339-1341)agC>agT		brain-specific angiogenesis inhibitor 2							32.0	37.0	35.0					1																	32207730		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207730G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1341C>T	1.37:g.32207730G>A						BAI2_ENST00000398538.1_Silent_p.S435S|BAI2_ENST00000527361.1_Silent_p.S447S|BAI2_ENST00000373655.2_Silent_p.S447S|BAI2_ENST00000398542.1_Silent_p.S380S|BAI2_ENST00000440175.2_Silent_p.S89S|BAI2_ENST00000398556.3_Silent_p.S395S|BAI2_ENST00000398547.1_Silent_p.S380S|BAI2_ENST00000257070.4_Silent_p.S447S	p.S447S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1682	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	447			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.1341C>T	CCDS346.2																																																																																				0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	20	0	0	0	1	0	6	20				
NSD1	64324	broad.mit.edu	37	5	176719086	176719086	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176719086C>T	ENST00000439151.2	+	22	6435	c.6390C>T	c.(6388-6390)ctC>ctT	p.L2130L	NSD1_ENST00000347982.4_Silent_p.L1861L|NSD1_ENST00000361032.4_Silent_p.L2027L|NSD1_ENST00000354179.4_Silent_p.L1861L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2130					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGGCCAGCTCGTCTCCTGCA	0.507			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6388-6390)ctC>ctT		nuclear receptor binding SET domain protein 1							91.0	74.0	80.0					5																	176719086		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176719086C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6390C>T	5.37:g.176719086C>T		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Silent_p.L2027L|NSD1_ENST00000354179.4_Silent_p.L1861L|NSD1_ENST00000347982.4_Silent_p.L1861L	p.L2130L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	22	6435	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2130					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.6390C>T	CCDS4412.1																																																																																				0.507	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	17	0	0	0	1	0	10	17				
TIRAP	114609	broad.mit.edu	37	11	126162649	126162649	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:126162649C>T	ENST00000392680.2	+	5	750	c.345C>T	c.(343-345)cgC>cgT	p.R115R	TIRAP_ENST00000392678.3_Silent_p.R115R|RP11-712L6.5_ENST00000528876.1_5'Flank|TIRAP_ENST00000392679.1_Silent_p.R115R|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	115	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCAGCCTGCGCTGCTTCCTGC	0.627																																						ENST00000392679.1																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(343-345)cgC>cgT		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							32.0	29.0	30.0					11																	126162649		2201	4298	6499	SO:0001819	synonymous_variant	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126162649C>T	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.345C>T	11.37:g.126162649C>T						TIRAP_ENST00000392678.3_Silent_p.R115R|TIRAP_ENST00000392680.2_Silent_p.R115R	p.R115R			P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	4	628	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	115			TIR.		B3KW65|Q56UH9|Q56UI0|Q8N5E5	Silent	SNP	ENST00000392680.2	37	c.345C>T	CCDS8472.1																																																																																				0.627	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		5	9	0	0	0	1	0	5	9				
CDH26	60437	broad.mit.edu	37	20	58562607	58562607	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58562607T>C	ENST00000244047.5	+	8	1248	c.937T>C	c.(937-939)Ttc>Ctc	p.F313L	CDH26_ENST00000348616.4_Missense_Mutation_p.F313L			Q8IXH8	CAD26_HUMAN	cadherin 26	313	Cadherin 3. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGAGCAAAATTCAACATATT	0.458																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(937-939)Ttc>Ctc		cadherin 26							114.0	92.0	100.0					20																	58562607		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562607T>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.937T>C	20.37:g.58562607T>C	ENSP00000244047:p.Phe313Leu					CDH26_ENST00000244047.5_Missense_Mutation_p.F313L	p.F313L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1237	+	all_lung(29;0.00963)		313			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.937T>C		.	.	.	.	.	.	.	.	.	.	T	14.04	2.417314	0.42918	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.64991	-0.13;-0.13	4.66	3.52	0.40303	.	0.123149	0.56097	D	0.000027	T	0.72495	0.3467	M	0.75264	2.295	0.23685	N	0.997114	D	0.54772	0.968	P	0.59171	0.853	T	0.64723	-0.6340	10	0.87932	D	0	.	9.3926	0.38383	0.0:0.0:0.18:0.82	.	313	Q8IXH8-4	.	L	313	ENSP00000244047:F313L;ENSP00000339390:F313L	ENSP00000244047:F313L	F	+	1	0	CDH26	57996002	0.971000	0.33674	0.032000	0.17829	0.027000	0.11550	5.449000	0.66619	0.699000	0.31761	0.533000	0.62120	TTC		0.458	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		24	35	0	0	0	1	0	24	35				
GSN	2934	broad.mit.edu	37	9	124094730	124094730	+	Missense_Mutation	SNP	C	C	T	rs142854368		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124094730C>T	ENST00000373818.4	+	17	2267	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	GSN_ENST00000394353.2_Missense_Mutation_p.T693M|GSN_ENST00000373823.3_Missense_Mutation_p.T682M|GSN_ENST00000412819.1_Missense_Mutation_p.T682M|GSN_ENST00000436847.1_Missense_Mutation_p.T693M|GSN_ENST00000341272.2_Missense_Mutation_p.T682M|GSN_ENST00000545652.1_Missense_Mutation_p.T690M|GSN_ENST00000449733.1_Missense_Mutation_p.T682M|GSN_ENST00000373808.2_Missense_Mutation_p.T682M|GSN_ENST00000373806.1_Missense_Mutation_p.T158M	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	733	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TACATCGAGACGGACCCAGCC	0.577											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(2044-2046)aCg>aTg		gelsolin		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	139.0	125.0	129.0		2198,2045,2045,2045,2045,2078,2078,2045	6.1	1.0	9	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	81,81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	733/783,682/732,682/732,682/732,682/732,693/743,693/743,682/732	124094730	1,13005	2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094730C>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2198C>T	9.37:g.124094730C>T	ENSP00000362924:p.Thr733Met		OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000373818.4_Missense_Mutation_p.T733M|GSN_ENST00000545652.1_Missense_Mutation_p.T690M|GSN_ENST00000373808.2_Missense_Mutation_p.T682M|GSN_ENST00000412819.1_Missense_Mutation_p.T682M|GSN_ENST00000449733.1_Missense_Mutation_p.T682M|GSN_ENST00000373806.1_Missense_Mutation_p.T158M|GSN_ENST00000341272.2_Missense_Mutation_p.T682M|GSN_ENST00000436847.1_Missense_Mutation_p.T693M|GSN_ENST00000394353.2_Missense_Mutation_p.T693M	p.T682M			P06396	GELS_HUMAN			25	2950	+			733			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.2045C>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643379	0.87859	0.0	1.16E-4	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	6.07	6.07	0.98685	Gelsolin domain (1);	0.049049	0.85682	D	0.000000	T	0.50205	0.1602	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.976;0.993;0.991	T	0.37641	-0.9697	10	0.45353	T	0.12	-14.4923	15.1622	0.72793	0.0:0.8596:0.1404:0.0	.	706;690;693;733	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	M	682;693;693;682;682;682;682;666;656;690;733;158;139	ENSP00000362929:T682M;ENSP00000411293:T693M;ENSP00000377882:T693M;ENSP00000409358:T682M;ENSP00000416586:T682M;ENSP00000340888:T682M;ENSP00000362914:T682M;ENSP00000445823:T690M;ENSP00000362924:T733M;ENSP00000362912:T158M	ENSP00000340888:T682M	T	+	2	0	GSN	123134551	1.000000	0.71417	0.971000	0.41717	0.962000	0.63368	5.569000	0.67391	2.885000	0.99019	0.655000	0.94253	ACG		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		17	20	0	0	0	1	0	17	20				
PER1	5187	broad.mit.edu	37	17	8052891	8052891	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8052891C>T	ENST00000317276.4	-	6	979	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	PER1_ENST00000354903.5_Missense_Mutation_p.V232M|PER1_ENST00000581082.1_Missense_Mutation_p.V228M	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	248	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGGAACACGTCCCGCTTG	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(742-744)Gtg>Atg	Other conserved DNA damage response genes	period circadian clock 1							37.0	38.0	37.0					17																	8052891		2201	4297	6498	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8052891C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.742G>A	17.37:g.8052891C>T	ENSP00000314420:p.Val248Met					PER1_ENST00000354903.5_Missense_Mutation_p.V232M|PER1_ENST00000581082.1_Missense_Mutation_p.V228M	p.V248M	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			6	979	-			248			PAS 1.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.742G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963744	0.53507	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.36520	2.6;1.25	5.55	4.58	0.56647	PAS (1);	0.529651	0.20549	N	0.090148	T	0.47655	0.1457	L	0.40543	1.245	0.30722	N	0.748162	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.76071	0.869;0.904;0.987	T	0.40289	-0.9571	10	0.35671	T	0.21	-15.1962	11.4266	0.50014	0.0:0.9135:0.0:0.0865	.	248;232;248	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	M	248;232	ENSP00000314420:V248M;ENSP00000346979:V232M	ENSP00000314420:V248M	V	-	1	0	PER1	7993616	0.000000	0.05858	0.996000	0.52242	0.935000	0.57460	0.177000	0.16801	2.620000	0.88729	0.563000	0.77884	GTG		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			13	20	0	0	0	1	0	13	20				
ZNF407	55628	broad.mit.edu	37	18	72344288	72344288	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72344288G>A	ENST00000299687.5	+	1	1313	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	ZNF407_ENST00000309902.6_Missense_Mutation_p.G438D|ZNF407_ENST00000582337.1_Missense_Mutation_p.G438D|ZNF407_ENST00000577538.1_Missense_Mutation_p.G438D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACCTTGAAGGGCCAGGCAAAG	0.428																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(1312-1314)gGc>gAc		zinc finger protein 407							68.0	68.0	68.0					18																	72344288		1885	4128	6013	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344288G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1313G>A	18.37:g.72344288G>A	ENSP00000299687:p.Gly438Asp					ZNF407_ENST00000577538.1_Missense_Mutation_p.G438D|ZNF407_ENST00000309902.6_Missense_Mutation_p.G438D|ZNF407_ENST00000582337.1_Missense_Mutation_p.G438D	p.G438D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1313	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	438					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1313G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513551	0.64522	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09538	2.97;3.41	5.39	2.27	0.28462	.	0.787900	0.09778	U	0.757119	T	0.18841	0.0452	L	0.50333	1.59	0.30039	N	0.812753	P;D;P	0.56287	0.904;0.975;0.845	P;P;B	0.56343	0.494;0.796;0.298	T	0.15407	-1.0438	10	0.17369	T	0.5	.	9.4727	0.38853	0.0758:0.4152:0.509:0.0	.	438;438;438	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	D	438	ENSP00000299687:G438D;ENSP00000310359:G438D	ENSP00000299687:G438D	G	+	2	0	ZNF407	70473276	0.998000	0.40836	0.933000	0.37362	0.987000	0.75469	1.246000	0.32803	0.040000	0.15660	-0.157000	0.13467	GGC		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		11	34	0	0	0	1	0	11	34				
MAGI3	260425	broad.mit.edu	37	1	114165511	114165511	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114165511G>A	ENST00000307546.9	+	9	1330	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MAGI3_ENST00000369617.4_Missense_Mutation_p.G444R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G419R|MAGI3_ENST00000369615.1_Missense_Mutation_p.G419R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	444					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCACAATGGGATTTGGTTT	0.413																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1255-1257)Gga>Aga		membrane associated guanylate kinase, WW and PDZ domain containing 3							104.0	98.0	100.0					1																	114165511		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114165511G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1255G>A	1.37:g.114165511G>A	ENSP00000304604:p.Gly419Arg					MAGI3_ENST00000369617.4_Missense_Mutation_p.G444R|MAGI3_ENST00000307546.9_Missense_Mutation_p.G419R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G419R	p.G419R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1317	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	444					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1255G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199595	0.94997	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82918	-0.0219	10	0.87932	D	0	-13.7927	19.9981	0.97395	0.0:0.0:1.0:0.0	.	419;419;444	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	R	444;419;419;419	ENSP00000358630:G444R;ENSP00000304604:G419R;ENSP00000358628:G419R;ENSP00000358624:G419R	ENSP00000304604:G419R	G	+	1	0	MAGI3	113967034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.729000	0.93468	0.655000	0.94253	GGA		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		10	18	0	0	0	1	0	10	18				
TNK2	10188	broad.mit.edu	37	3	195594514	195594514	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195594514C>A	ENST00000333602.6	-	12	3227	c.2610G>T	c.(2608-2610)gaG>gaT	p.E870D	TNK2_ENST00000381916.2_Missense_Mutation_p.E948D|TNK2_ENST00000392400.1_Missense_Mutation_p.E870D|TNK2_ENST00000428187.1_Missense_Mutation_p.E902D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	870	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGGTAGCGCTCCAGGTAGG	0.697																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2608-2610)gaG>gaT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						28.0	28.0	28.0					3																	195594514		2201	4294	6495	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594514C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2610G>T	3.37:g.195594514C>A	ENSP00000329425:p.Glu870Asp					TNK2_ENST00000381916.2_Missense_Mutation_p.E948D|TNK2_ENST00000428187.1_Missense_Mutation_p.E902D|TNK2_ENST00000392400.1_Missense_Mutation_p.E870D	p.E870D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	3227	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	870	Missing (in Ref. 4; AAH08884).		EBD domain (By similarity).|Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.2610G>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497345	0.12762	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.64991	-0.13;0.03;3.6;0.04;-0.13	5.29	2.41	0.29592	.	0.056628	0.64402	D	0.000001	T	0.36853	0.0982	N	0.11064	0.09	0.80722	D	1	B;B;B;B	0.20459	0.015;0.009;0.001;0.045	B;B;B;B	0.25987	0.01;0.006;0.002;0.065	T	0.03933	-1.0991	10	0.20519	T	0.43	.	5.399	0.16284	0.0:0.516:0.2293:0.2547	.	870;948;902;395	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	D	870;948;437;902;870	ENSP00000329425:E870D;ENSP00000371341:E948D;ENSP00000398614:E437D;ENSP00000392546:E902D;ENSP00000376201:E870D	ENSP00000329425:E870D	E	-	3	2	TNK2	197078911	0.987000	0.35691	1.000000	0.80357	0.789000	0.44602	0.151000	0.16283	0.182000	0.20032	0.563000	0.77884	GAG		0.697	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		6	17	1	0	0.248553	1	0.248844	6	17				
BMP1	649	broad.mit.edu	37	8	22053008	22053008	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22053008G>A	ENST00000306385.5	+	13	2343	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	BMP1_ENST00000397816.3_Missense_Mutation_p.G558D|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G558D|BMP1_ENST00000397814.3_Missense_Mutation_p.G558D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	558	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AACCGCGGGGGCTGTGAGCAG	0.642																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1672-1674)gGc>gAc		bone morphogenetic protein 1							47.0	47.0	47.0					8																	22053008		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22053008G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1673G>A	8.37:g.22053008G>A	ENSP00000305714:p.Gly558Asp					BMP1_ENST00000397816.3_Missense_Mutation_p.G558D|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.G558D|BMP1_ENST00000306349.8_Missense_Mutation_p.G558D	p.G558D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2343	+			558			EGF-like 1; calcium-binding (Potential).		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1673G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607074	0.66558	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.19	4.31	0.51392	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37053	U	0.002275	D	0.98096	0.9372	L	0.50847	1.595	0.80722	D	1	P;P;P;D	0.67145	0.737;0.804;0.948;0.996	P;P;P;D	0.66847	0.795;0.507;0.847;0.947	D	0.98290	1.0513	10	0.62326	D	0.03	.	12.2182	0.54418	0.084:0.0:0.916:0.0	.	558;631;558;558	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	D	558	ENSP00000305714:G558D;ENSP00000380917:G558D;ENSP00000306121:G558D;ENSP00000380915:G558D	ENSP00000306121:G558D	G	+	2	0	BMP1	22108953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.947000	0.87758	1.183000	0.42943	0.563000	0.77884	GGC		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		14	28	0	0	0	1	0	14	28				
MNX1	3110	broad.mit.edu	37	7	156798500	156798500	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156798500G>A	ENST00000252971.6	-	3	1220	c.920C>T	c.(919-921)gCg>gTg	p.A307V	MNX1_ENST00000543409.1_Missense_Mutation_p.A95V|MNX1-AS2_ENST00000429228.1_RNA|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	307					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTTCCTGCGCCGCCTGCTC	0.687																																						ENST00000252971.6																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(919-921)gCg>gTg		motor neuron and pancreas homeobox 1							28.0	37.0	34.0					7																	156798500		2203	4298	6501	SO:0001583	missense	3110				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156798500G>A	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.920C>T	7.37:g.156798500G>A	ENSP00000252971:p.Ala307Val					MNX1_ENST00000543409.1_Missense_Mutation_p.A95V|MNX1_ENST00000469500.1_Intron	p.A307V	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	307					F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	c.920C>T	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756747	0.89843	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972	D;D	0.93426	-2.91;-3.22	4.12	4.12	0.48240	.	0.000000	0.39909	U	0.001227	D	0.88310	0.6402	L	0.54323	1.7	0.46478	D	0.999063	P;P;P	0.46859	0.885;0.885;0.868	B;B;B	0.34301	0.106;0.179;0.127	D	0.87342	0.2332	10	0.39692	T	0.17	-13.6831	10.1851	0.42993	0.0959:0.0:0.9041:0.0	.	143;307;95	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	V	307;95;137	ENSP00000252971:A307V;ENSP00000438552:A95V	ENSP00000252971:A307V	A	-	2	0	MNX1	156491261	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.019000	0.76412	2.000000	0.58554	0.306000	0.20318	GCG		0.687	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			27	57	0	0	0	1	0	27	57				
KCNN2	3781	broad.mit.edu	37	5	113740489	113740489	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:113740489G>A	ENST00000512097.3	+	4	1955	c.937G>A	c.(937-939)Gta>Ata	p.V313I	KCNN2_ENST00000264773.3_Missense_Mutation_p.V313I|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	313					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CCCAGGAACTGTACTCTTGGT	0.368																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(937-939)Gta>Ata		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							144.0	143.0	143.0					5																	113740489		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740489G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.937G>A	5.37:g.113740489G>A	ENSP00000427120:p.Val313Ile					KCNN2_ENST00000264773.3_Missense_Mutation_p.V313I|KCNN2_ENST00000507750.1_Intron	p.V313I			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1955	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	313					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.937G>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027645	0.75390	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.22945	1.93;1.93	5.42	5.42	0.78866	.	0.056409	0.64402	D	0.000001	T	0.44973	0.1319	L	0.56124	1.755	0.80722	D	1	P	0.45240	0.854	P	0.56648	0.803	T	0.32719	-0.9896	10	0.87932	D	0	-4.695	18.8255	0.92117	0.0:0.0:1.0:0.0	.	313	Q9H2S1	KCNN2_HUMAN	I	313	ENSP00000427120:V313I;ENSP00000264773:V313I	ENSP00000264773:V313I	V	+	1	0	KCNN2	113768388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.545000	0.85829	0.491000	0.48974	GTA		0.368	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		48	62	0	0	0	1	0	48	62				
ZNF81	347344	broad.mit.edu	37	X	47774323	47774323	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47774323A>G	ENST00000376954.1	+	6	646	c.278A>G	c.(277-279)gAt>gGt	p.D93G	ZNF81_ENST00000338637.7_Splice_Site_p.D93G			P51508	ZNF81_HUMAN	zinc finger protein 81	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTCTTTTTAGATGGGAAATTT	0.338																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.e6-1		zinc finger protein 81							20.0	16.0	17.0					X																	47774323		1794	4038	5832	SO:0001630	splice_region_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774323A>G	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.278-1A>G	X.37:g.47774323A>G						ZNF81_ENST00000338637.7_Splice_Site_p.D93_splice	p.D93_splice			P51508	ZNF81_HUMAN			6	646	+		all_lung(315;0.0973)	93					Q6RX22|Q96QH6	Splice_Site	SNP	ENST00000376954.1	37	c.277_splice	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	1.409	-0.575948	0.03882	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000399918	T;T	0.07908	3.15;3.15	3.85	1.35	0.21983	.	0.370356	0.20167	N	0.097825	T	0.03651	0.0104	N	0.12502	0.225	0.25786	N	0.984676	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	9	.	.	.	.	4.6281	0.12488	0.6387:0.0:0.3613:0.0	.	93	P51508	ZNF81_HUMAN	G	93	ENSP00000366153:D93G;ENSP00000341151:D93G	.	D	+	2	0	ZNF81	47659267	0.806000	0.28996	0.556000	0.28293	0.832000	0.47134	0.819000	0.27308	0.184000	0.20083	0.486000	0.48141	GAT		0.338	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	Missense_Mutation	23	6	0	0	0	1	0	23	6				
SERAC1	84947	broad.mit.edu	37	6	158571515	158571515	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:158571515T>G	ENST00000367104.3	-	4	366	c.235A>C	c.(235-237)Aca>Cca	p.T79P	SERAC1_ENST00000367101.1_Missense_Mutation_p.T79P|SERAC1_ENST00000367102.2_Missense_Mutation_p.T79P|SERAC1_ENST00000607000.1_Missense_Mutation_p.T79P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	79					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAAGAAACTGTGTGCACATAT	0.323																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(235-237)Aca>Cca		serine active site containing 1							101.0	101.0	101.0					6																	158571515		2203	4297	6500	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158571515T>G	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.235A>C	6.37:g.158571515T>G	ENSP00000356071:p.Thr79Pro					SERAC1_ENST00000367101.1_Missense_Mutation_p.T79P|SERAC1_ENST00000367104.3_Missense_Mutation_p.T79P|SERAC1_ENST00000607000.1_Missense_Mutation_p.T79P	p.T79P			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	4	376	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	79					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.235A>C	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270431	0.10349	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.67865	-0.29;-0.29;-0.29	5.91	-1.31	0.09230	.	0.737214	0.14024	N	0.346608	T	0.33089	0.0851	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27434	-1.0074	10	0.52906	T	0.07	-4.4005	1.7869	0.03044	0.11:0.234:0.2249:0.431	.	79	Q96JX3	SRAC1_HUMAN	P	79	ENSP00000356069:T79P;ENSP00000356071:T79P;ENSP00000356068:T79P	ENSP00000356068:T79P	T	-	1	0	SERAC1	158491503	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.185000	0.09684	-0.146000	0.11274	-0.133000	0.14855	ACA		0.323	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		15	31	0	0	0	1	0	15	31				
SLC8A1	6546	broad.mit.edu	37	2	40342635	40342635	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:40342635C>T	ENST00000403092.1	-	11	2713	c.2680G>A	c.(2680-2682)Gca>Aca	p.A894T	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A858T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A894T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A889T|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A886T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A889T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	894					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGGCTGCGTGGTAGATG	0.542																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2572-2574)Gca>Aca		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101.0	78.0	86.0					2																	40342635		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342635C>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2680G>A	2.37:g.40342635C>T	ENSP00000384763:p.Ala894Thr					SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A889T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A858T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A858T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A886T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A894T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A894T|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A889T	p.A858T			P32418	NAC1_HUMAN			8	2761	-			894					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2572G>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.185693	0.38609	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Sodium/calcium exchanger membrane region (1);	0.242680	0.41823	D	0.000803	T	0.77301	0.4110	M	0.69823	2.125	0.21256	N	0.999744	D;P;P;P	0.63046	0.992;0.945;0.857;0.872	D;B;B;B	0.64042	0.921;0.311;0.197;0.293	T	0.70132	-0.4956	10	0.45353	T	0.12	.	17.8596	0.88777	0.0:1.0:0.0:0.0	.	858;881;889;894	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	T	858;894;889;894;889;858;858;894;886;881;858;858	ENSP00000383886:A858T;ENSP00000440727:A889T;ENSP00000384763:A894T;ENSP00000385678:A889T;ENSP00000385188:A858T;ENSP00000385535:A858T;ENSP00000332931:A894T;ENSP00000384908:A886T;ENSP00000385811:A858T;ENSP00000443515:A858T	ENSP00000332931:A894T	A	-	1	0	SLC8A1	40196139	0.990000	0.36364	0.654000	0.29608	0.955000	0.61496	2.644000	0.46613	2.820000	0.97059	0.650000	0.86243	GCA		0.542	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	17	0	0	0	1	0	11	17				
RNF213	57674	broad.mit.edu	37	17	78293254	78293254	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78293254G>A	ENST00000582970.1	+	17	3167				RNF213_ENST00000508628.2_Intron|CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000319921.4_Missense_Mutation_p.A1056T|RNF213_ENST00000456466.1_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCTCCCTCGCCAAGGGCAA	0.572																																						ENST00000319921.4																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(3166-3168)Gcc>Acc		ring finger protein 213							71.0	68.0	69.0					17																	78293254		2203	4300	6503	SO:0001627	intron_variant	57674							g.chr17:78293254G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.3024+142G>A	17.37:g.78293254G>A						RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron	p.A1056T	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		17	3307	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.3166G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.967572	0.53507	.	.	ENSG00000173821	ENST00000319921	.	.	.	3.07	-0.374	0.12512	.	0.667620	0.11838	N	0.524575	T	0.17365	0.0417	N	0.22421	0.69	0.09310	N	1	B	0.28470	0.213	B	0.22753	0.041	T	0.17684	-1.0361	8	.	.	.	.	2.4235	0.04454	0.2794:0.0:0.4906:0.23	.	1056	Q9HCF4-2	.	T	1056	.	.	A	+	1	0	RNF213	75907849	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.253000	0.08794	-0.020000	0.14032	0.645000	0.84053	GCC		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	25	0	0	0	1	0	16	25				
TTN	7273	broad.mit.edu	37	2	179446516	179446516	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179446516G>A	ENST00000591111.1	-	266	61780	c.61556C>T	c.(61555-61557)cCg>cTg	p.P20519L	TTN_ENST00000342992.6_Missense_Mutation_p.P19592L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13220L|TTN_ENST00000460472.2_Missense_Mutation_p.P13095L|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22160L|TTN_ENST00000342175.6_Missense_Mutation_p.P13287L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20519	Fibronectin type-III 49. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGAAAGCCGGTGGGCCAGG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66478-66480)cCg>cTg		titin							20.0	19.0	19.0					2																	179446516		1843	4090	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446516G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61556C>T	2.37:g.179446516G>A	ENSP00000465570:p.Pro20519Leu					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13287L|TTN_ENST00000591111.1_Missense_Mutation_p.P20519L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13095L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19592L|TTN_ENST00000359218.5_Missense_Mutation_p.P13220L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.P22160L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		316	66703	-			20519		V -> I.	Fibronectin type-III 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66479C>T		.	.	.	.	.	.	.	.	.	.	G	16.43	3.120610	0.56613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90707	0.7084	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93595	0.6925	9	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	13095;13220;13287;20519	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19592;13095;13287;13220;13093	ENSP00000343764:P19592L;ENSP00000434586:P13095L;ENSP00000340554:P13287L;ENSP00000352154:P13220L	ENSP00000340554:P13287L	P	-	2	0	TTN	179154762	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.661000	0.83786	2.826000	0.97356	0.655000	0.94253	CCG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	16	0	0	0	1	0	6	16				
SLC43A1	8501	broad.mit.edu	37	11	57268766	57268766	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57268766C>T	ENST00000278426.3	-	3	546	c.191G>A	c.(190-192)cGc>cAc	p.R64H	SLC43A1_ENST00000528450.1_Missense_Mutation_p.R64H|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGCCACCTGCGCTGCTCATC	0.627																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(190-192)cGc>cAc		solute carrier family 43 (amino acid system L transporter), member 1							100.0	83.0	89.0					11																	57268766		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57268766C>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.191G>A	11.37:g.57268766C>T	ENSP00000278426:p.Arg64His					SLC43A1_ENST00000528450.1_Missense_Mutation_p.R64H	p.R64H	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			3	546	-			64						Missense_Mutation	SNP	ENST00000278426.3	37	c.191G>A	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	c	11.50	1.656042	0.29425	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.67	-9.28	0.00656	Major facilitator superfamily domain, general substrate transporter (1);	2.292740	0.01567	N	0.020403	T	0.20740	0.0499	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14755	-1.0461	10	0.42905	T	0.14	0.1474	5.2502	0.15517	0.118:0.1279:0.095:0.6591	.	64	O75387	LAT3_HUMAN	H	64	ENSP00000278426:R64H;ENSP00000435673:R64H;ENSP00000435647:R64H;ENSP00000435486:R64H	ENSP00000278426:R64H	R	-	2	0	SLC43A1	57025342	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.094000	0.03359	-1.429000	0.01987	-0.144000	0.13903	CGC		0.627	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		9	51	0	0	0	1	0	9	51				
GYS1	2997	broad.mit.edu	37	19	49490492	49490492	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49490492C>T	ENST00000323798.3	-	3	647	c.451G>A	c.(451-453)Gct>Act	p.A151T	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.A71T|GYS1_ENST00000540532.1_Missense_Mutation_p.A71T|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	151					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAGAGGACAGCGTCGTTGGCC	0.607																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(451-453)Gct>Act		glycogen synthase 1 (muscle)							89.0	68.0	75.0					19																	49490492		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490492C>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.451G>A	19.37:g.49490492C>T	ENSP00000317904:p.Ala151Thr					GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.A71T|GYS1_ENST00000541188.1_Missense_Mutation_p.A71T|GYS1_ENST00000263276.6_Intron	p.A151T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	3	647	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	151					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.451G>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193954	0.58017	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.68181	-0.31;-0.31;-0.31	3.82	3.82	0.43975	.	0.056312	0.64402	D	0.000001	T	0.61413	0.2345	L	0.35793	1.09	0.58432	D	0.999999	B;P	0.51653	0.128;0.947	B;P	0.47827	0.055;0.558	T	0.60606	-0.7230	10	0.30854	T	0.27	-12.7705	14.0486	0.64719	0.0:1.0:0.0:0.0	.	71;151	B7Z806;P13807	.;GYS1_HUMAN	T	151;71;71;150	ENSP00000317904:A151T;ENSP00000437922:A71T;ENSP00000445197:A71T	ENSP00000317904:A151T	A	-	1	0	GYS1	54182304	0.997000	0.39634	0.967000	0.41034	0.943000	0.58893	3.512000	0.53407	2.088000	0.63022	0.557000	0.71058	GCT		0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		6	11	0	0	0	1	0	6	11				
ALOX15	246	broad.mit.edu	37	17	4535496	4535496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4535496C>T	ENST00000570836.1	-	13	1717	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	ALOX15_ENST00000293761.3_Missense_Mutation_p.A541T|ALOX15_ENST00000574640.1_Missense_Mutation_p.A502T|ALOX15_ENST00000545513.1_Missense_Mutation_p.A563T			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	541	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGCACAGAGGCGTGTTGGCCG	0.592																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1621-1623)Gcc>Acc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						70.0	69.0	70.0					17																	4535496		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535496C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1621G>A	17.37:g.4535496C>T	ENSP00000458832:p.Ala541Thr					ALOX15_ENST00000293761.3_Missense_Mutation_p.A541T|ALOX15_ENST00000574640.1_Missense_Mutation_p.A502T|ALOX15_ENST00000545513.1_Missense_Mutation_p.A563T	p.A541T			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	13	1717	-			541			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.1621G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779393	0.31502	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.11821	2.74;2.74	4.08	1.78	0.24846	Lipoxygenase, C-terminal (3);	0.225560	0.37178	N	0.002216	T	0.21347	0.0514	M	0.91612	3.225	0.22811	N	0.998705	B;B;B	0.32365	0.367;0.222;0.222	B;B;B	0.29942	0.066;0.109;0.109	T	0.17077	-1.0381	10	0.72032	D	0.01	-18.673	8.1772	0.31289	0.5884:0.4116:0.0:0.0	.	563;502;541	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	T	541;563	ENSP00000293761:A541T;ENSP00000439855:A563T	ENSP00000293761:A541T	A	-	1	0	ALOX15	4482245	0.253000	0.23982	0.828000	0.32881	0.529000	0.34654	0.206000	0.17375	0.144000	0.18951	-0.335000	0.08231	GCC		0.592	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			12	19	0	0	0	1	0	12	19				
KCNJ14	3770	broad.mit.edu	37	19	48965165	48965165	+	Missense_Mutation	SNP	C	C	T	rs370291546		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48965165C>T	ENST00000391884.1	+	1	660	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62C			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	62					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CTGCAACGTGCGTTTCGTAAA	0.687																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(184-186)Cgt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 14		C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	52.0	34.0	40.0		184,184	4.3	1.0	19		40	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	KCNJ14	NM_013348.2,NM_170720.1	180,180	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	62/437,62/437	48965165	3,13001	2202	4300	6502	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965165C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.184C>T	19.37:g.48965165C>T	ENSP00000375756:p.Arg62Cys					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R62C	p.R62C			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	660	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	62						Missense_Mutation	SNP	ENST00000391884.1	37	c.184C>T	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811321	0.70797	0.0	3.49E-4	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94232	-3.38;-3.38	4.26	4.26	0.50523	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.299511	0.33161	N	0.005212	D	0.94794	0.8319	M	0.64997	1.995	0.44227	D	0.997061	D	0.67145	0.996	D	0.65443	0.935	D	0.93837	0.7133	10	0.46703	T	0.11	.	10.4401	0.44460	0.0:0.8019:0.1981:0.0	.	62	Q9UNX9	IRK14_HUMAN	C	62	ENSP00000341479:R62C;ENSP00000375756:R62C	ENSP00000341479:R62C	R	+	1	0	KCNJ14	53656977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.105000	0.31086	2.371000	0.80710	0.655000	0.94253	CGT		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		6	5	0	0	0	1	0	6	5				
ARID1A	8289	broad.mit.edu	37	1	27105808	27105808	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27105808A>G	ENST00000324856.7	+	20	5790	c.5419A>G	c.(5419-5421)Agt>Ggt	p.S1807G	ARID1A_ENST00000540690.1_Missense_Mutation_p.S135G|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1424G|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1590G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1807					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)		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)		GAAGCTGATCAGTAAGTTTGA	0.448			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(5419-5421)Agt>Ggt		AT rich interactive domain 1A (SWI-like)							74.0	63.0	67.0					1																	27105808		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.chr1:27105808A>G	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.5419A>G	1.37:g.27105808A>G	ENSP00000320485:p.Ser1807Gly					ARID1A_ENST00000374152.2_Missense_Mutation_p.S1424G|ARID1A_ENST00000540690.1_Missense_Mutation_p.S135G|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1590G	p.S1807G	NM_006015.4	NP_006006.3	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)	20	5790	+		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)	1807					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5419A>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.38|19.38	3.816164|3.816164	0.70912|0.70912	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.13307	.|4.0;3.91;3.84;2.6	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32041|0.32041	0.0816|0.0816	L|L	0.59436|0.59436	1.845|1.845	0.50813|0.50813	D|D	0.999896|0.999896	.|P;B;D	.|0.61697	.|0.607;0.296;0.99	.|P;B;D	.|0.72982	.|0.461;0.177;0.979	T|T	0.01397|0.01397	-1.1365|-1.1365	5|10	.|0.28530	.|T	.|0.3	-7.4966|-7.4966	15.2589|15.2589	0.73606|0.73606	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1424;1807;1590	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	R|G	703|1807;1590;1424;135	.|ENSP00000320485:S1807G;ENSP00000387636:S1590G;ENSP00000363267:S1424G;ENSP00000442437:S135G	.|ENSP00000320485:S1807G	Q|S	+|+	2|1	0|0	ARID1A|ARID1A	26978395|26978395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.540000|8.540000	0.90641|0.90641	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	CAG|AGT		0.448	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	23	0	0	0	1	0	3	23				
ARHGAP8	23779	broad.mit.edu	37	22	45244820	45244820	+	Missense_Mutation	SNP	G	G	A	rs112956019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45244820G>A	ENST00000389774.2	+	11	991	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V463M|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V253M|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V463M|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V384M|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V253M|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V375M	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	284	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGGGAAGCCCGTGAACTTTGA	0.612																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1387-1389)Gtg>Atg									187.0	143.0	158.0					22																	45244820		2203	4300	6503	SO:0001583	missense	0							g.chr22:45244820G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.850G>A	22.37:g.45244820G>A	ENSP00000374424:p.Val284Met					ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V253M|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V253M|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V375M|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V463M|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V284M|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V384M	p.V463M							15	1387	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.1387G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637265	0.67130	.	.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	3.84	3.84	0.44239	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31897	U	0.006882	T	0.71467	0.3343	M	0.88105	2.93	0.45852	D	0.998719	D;D;D;D;D;D;D	0.89917	0.998;0.984;0.998;0.999;0.991;1.0;0.999	P;P;P;D;P;D;P	0.91635	0.879;0.831;0.568;0.923;0.779;0.999;0.901	T	0.77827	-0.2443	10	0.72032	D	0.01	.	12.7531	0.57320	0.0:0.0:1.0:0.0	.	289;253;289;284;294;463;384	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.	M	384;463;463;375;284;253;253	ENSP00000354732:V384M;ENSP00000262731:V463M;ENSP00000429240:V463M;ENSP00000374423:V375M;ENSP00000374424:V284M;ENSP00000337287:V253M;ENSP00000348407:V253M	ENSP00000337287:V253M	V	+	1	0	PRR5-ARHGAP8;ARHGAP8	43623484	1.000000	0.71417	0.998000	0.56505	0.534000	0.34807	7.582000	0.82546	1.970000	0.57323	0.467000	0.42956	GTG		0.612	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		30	51	0	0	0	1	0	30	51				
C1orf146	388649	broad.mit.edu	37	1	92707800	92707800	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:92707800G>A	ENST00000370375.3	+	3	246	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	33										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CTAGAAAATCGAAGCCACAAA	0.299																																						ENST00000370375.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(97-99)cGa>cAa		chromosome 1 open reading frame 146							109.0	111.0	110.0					1																	92707800		2203	4299	6502	SO:0001583	missense	388649							g.chr1:92707800G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.98G>A	1.37:g.92707800G>A	ENSP00000359401:p.Arg33Gln					C1orf146_ENST00000370373.2_5'UTR	p.R33Q	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	3	246	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	33					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.98G>A	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901185	0.17760	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.15	-6.53	0.01866	.	0.957612	0.08610	N	0.920183	T	0.07458	0.0188	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32025	-0.9922	9	0.16420	T	0.52	-2.1548	17.9604	0.89083	0.867:0.0:0.133:0.0	.	33	Q5VVC0	CA146_HUMAN	Q	33;12	.	ENSP00000359399:R12Q	R	+	2	0	C1orf146	92480388	0.923000	0.31300	0.236000	0.24074	0.850000	0.48378	0.220000	0.17660	-1.285000	0.02387	-0.793000	0.03317	CGA		0.299	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		34	41	0	0	0	1	0	34	41				
RUNX1T1	862	broad.mit.edu	37	8	92998436	92998436	+	Missense_Mutation	SNP	C	C	T	rs377594753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:92998436C>T	ENST00000523629.1	-	9	1649	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A399T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A410T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A362T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	399					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AAGTCCTCGGCGTCACTGTAC	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1195-1197)Gcc>Acc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	105.0	109.0	108.0		1084,1084,1195,1114,1372,1228,1135,1114,1195,1195,1195,1195,1195,1195,1114	5.7	0.8	8		108	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	RUNX1T1	NM_175636.2,NM_175635.2,NM_175634.2,NM_004349.3,NM_001198679.1,NM_001198634.1,NM_001198633.1,NM_001198632.1,NM_001198631.1,NM_001198630.1,NM_001198629.1,NM_001198628.1,NM_001198627.1,NM_001198626.1,NM_001198625.1	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	362/568,362/568,399/605,372/578,458/664,410/616,379/585,372/578,399/605,399/605,399/605,399/605,399/605,399/605,372/578	92998436	1,13005	2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998436C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1195G>A	8.37:g.92998436C>T	ENSP00000428543:p.Ala399Thr					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A410T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A399T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A362T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A372T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A362T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A372T	p.A399T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1649	-			399					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1195G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996115	0.74703	2.27E-4	0.0	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.44542	1.39	0.80722	D	1	B;B;B	0.31077	0.091;0.178;0.307	B;B;B	0.31245	0.014;0.022;0.126	T	0.15150	-1.0447	10	0.36615	T	0.2	-15.8922	19.773	0.96379	0.0:1.0:0.0:0.0	.	410;399;372	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	T	399;372;399;362;362;362;410;372	ENSP00000428543:A399T;ENSP00000379520:A372T;ENSP00000265814:A399T;ENSP00000353504:A362T;ENSP00000390137:A362T;ENSP00000428742:A362T;ENSP00000402257:A410T;ENSP00000430728:A372T	ENSP00000265814:A399T	A	-	1	0	RUNX1T1	93067612	1.000000	0.71417	0.815000	0.32552	0.957000	0.61999	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	GCC		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		40	58	0	0	0	1	0	40	58				
FAM132A	388581	broad.mit.edu	37	1	1179365	1179365	+	Missense_Mutation	SNP	C	C	T	rs200792498		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1179365C>T	ENST00000330388.2	-	4	531	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_001014980.2	NP_001014980.1	Q5T7M4	ADIPL_HUMAN	family with sequence similarity 132, member A	167	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCAGCGTCCGCTTGTCCAC	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11185	0.0		0.0	False		,,,				2504	0.0					ENST00000330388.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(499-501)cGg>cAg		family with sequence similarity 132, member A							7.0	10.0	9.0					1																	1179365		2109	4231	6340	SO:0001583	missense	388581					extracellular region		g.chr1:1179365C>T	BC089443	CCDS30554.1	1p36.33	2012-03-26	2007-03-27	2007-03-27	ENSG00000184163	ENSG00000184163			32308	protein-coding gene	gene with protein product	"""adipolin"", ""adipose-derived insulin-sensitizing factor"""		"""C1q domain containing 2"""	C1QDC2		21849507	Standard	NM_001014980		Approved	MGC105127, C1QTNF12, CTRP12	uc001adl.2	Q5T7M4	OTTHUMG00000001412	ENST00000330388.2:c.500G>A	1.37:g.1179365C>T	ENSP00000329137:p.Arg167Gln						p.R167Q	NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	531	-	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)	167					Q5EBL5	Missense_Mutation	SNP	ENST00000330388.2	37	c.500G>A	CCDS30554.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	13.83	2.353261	0.41700	.	.	ENSG00000184163	ENST00000330388	T	0.43294	0.95	4.03	-6.22	0.02058	Tumour necrosis factor-like (1);	0.201745	0.39909	N	0.001225	T	0.18964	0.0455	L	0.38175	1.15	0.24866	N	0.99232	P	0.46327	0.876	B	0.31495	0.131	T	0.20571	-1.0271	10	0.66056	D	0.02	-5.7071	6.822	0.23862	0.1497:0.5438:0.0:0.3065	.	167	Q5T7M4	F132A_HUMAN	Q	167	ENSP00000329137:R167Q	ENSP00000329137:R167Q	R	-	2	0	FAM132A	1169228	0.877000	0.30153	0.757000	0.31301	0.081000	0.17604	-0.195000	0.09546	-1.326000	0.02266	-0.332000	0.08345	CGG		0.701	FAM132A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004080.4	XM_371208		3	5	0	0	0	1	0	3	5				
TMEM199	147007	broad.mit.edu	37	17	26687580	26687580	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26687580A>G	ENST00000292114.3	+	4	494	c.404A>G	c.(403-405)gAc>gGc	p.D135G	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.7_ENST00000577850.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.D135G|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	135						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACTCTCAGCGACCTGGGAAAG	0.463																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(403-405)gAc>gGc		transmembrane protein 199							115.0	105.0	108.0					17																	26687580		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26687580A>G	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.404A>G	17.37:g.26687580A>G	ENSP00000292114:p.Asp135Gly					TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.D135G|CTB-96E2.3_ENST00000591482.1_RNA	p.D135G	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	494	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		135						Missense_Mutation	SNP	ENST00000292114.3	37	c.404A>G	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973777	0.53720	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.29917	1.55;1.55	5.85	4.76	0.60689	.	0.264454	0.48286	D	0.000181	T	0.20700	0.0498	N	0.20685	0.6	0.46631	D	0.999136	B;B	0.21821	0.061;0.003	B;B	0.27887	0.084;0.009	T	0.05767	-1.0865	10	0.38643	T	0.18	-13.998	9.9423	0.41587	0.9204:0.0:0.0796:0.0	.	135;135	E9PBQ3;Q8N511	.;TM199_HUMAN	G	135;135;53	ENSP00000292114:D135G;ENSP00000427614:D135G	ENSP00000292114:D135G	D	+	2	0	TMEM199	23711707	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.212000	0.58514	2.238000	0.73509	0.533000	0.62120	GAC		0.463	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		12	13	0	0	0	1	0	12	13				
KCNU1	157855	broad.mit.edu	37	8	36675211	36675211	+	Missense_Mutation	SNP	G	G	A	rs201465659		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:36675211G>A	ENST00000399881.3	+	10	1076	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	347	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A347T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGTGTGACCGCTTTCCTGAG	0.468																																						ENST00000399881.3																			2	Substitution - Missense(2)	p.A347T(2)	central_nervous_system(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1039-1041)Gct>Act		potassium channel, subfamily U, member 1							173.0	159.0	163.0					8																	36675211		1939	4138	6077	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36675211G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1039G>A	8.37:g.36675211G>A	ENSP00000382770:p.Ala347Thr						p.A347T	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	10	1076	+			347			RCK N-terminal.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1039G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559510	0.27827	.	.	ENSG00000215262	ENST00000399881	T	0.30182	1.54	5.31	3.39	0.38822	.	0.199578	0.24039	U	0.042118	T	0.34600	0.0903	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	P	0.57620	0.824	T	0.04103	-1.0977	10	0.31617	T	0.26	-13.5186	12.5296	0.56106	0.0:0.0:0.7027:0.2973	.	347	A8MYU2	KCNU1_HUMAN	T	347	ENSP00000382770:A347T	ENSP00000382770:A347T	A	+	1	0	KCNU1	36794369	1.000000	0.71417	0.898000	0.35279	0.964000	0.63967	4.064000	0.57506	1.344000	0.45657	0.655000	0.94253	GCT		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		19	53	0	0	0	1	0	19	53				
PRKD2	25865	broad.mit.edu	37	19	47195019	47195019	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47195019A>G	ENST00000291281.4	-	12	1900	c.1675T>C	c.(1675-1677)Tca>Cca	p.S559P	PRKD2_ENST00000601806.1_Missense_Mutation_p.S402P|PRKD2_ENST00000600194.1_Missense_Mutation_p.S402P|PRKD2_ENST00000433867.1_Missense_Mutation_p.S559P|PRKD2_ENST00000595515.1_Missense_Mutation_p.S559P|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AACTGCCCTGAGCCCAGCACT	0.587																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1675-1677)Tca>Cca		protein kinase D2							91.0	87.0	88.0					19																	47195019		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47195019A>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1675T>C	19.37:g.47195019A>G	ENSP00000291281:p.Ser559Pro					PRKD2_ENST00000291281.4_Missense_Mutation_p.S559P|PRKD2_ENST00000601806.1_Missense_Mutation_p.S402P|PRKD2_ENST00000600194.1_Missense_Mutation_p.S402P|PRKD2_ENST00000595515.1_Missense_Mutation_p.S559P	p.S559P	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2152	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	559			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1675T>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318286	0.81469	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68025	-0.3;-0.3	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.81143	0.4761	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.979;0.999	D	0.83801	0.0236	10	0.87932	D	0	-9.6302	12.0941	0.53744	1.0:0.0:0.0:0.0	.	559;559	E7ER94;Q9BZL6	.;KPCD2_HUMAN	P	559	ENSP00000291281:S559P;ENSP00000393978:S559P	ENSP00000291281:S559P	S	-	1	0	PRKD2	51886859	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.326000	0.79133	1.816000	0.52996	0.454000	0.30748	TCA		0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		22	35	0	0	0	1	0	22	35				
AHDC1	27245	broad.mit.edu	37	1	27877906	27877906	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27877906C>T	ENST00000247087.5	-	5	1317	c.721G>A	c.(721-723)Gac>Aac	p.D241N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D241N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	241	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ATGTCGGCGTCAGCAAGTTCT	0.667																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(721-723)Gac>Aac		AT hook, DNA binding motif, containing 1							41.0	46.0	44.0					1																	27877906		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27877906C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.721G>A	1.37:g.27877906C>T	ENSP00000247087:p.Asp241Asn					AHDC1_ENST00000247087.5_Missense_Mutation_p.D241N|AHDC1_ENST00000482400.2_5'UTR	p.D241N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1689	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	241			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.721G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593635	0.86953	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50548	0.74;0.74	5.16	5.16	0.70880	.	0.212918	0.22742	U	0.056192	T	0.34629	0.0904	N	0.14661	0.345	0.37000	D	0.895225	P	0.37330	0.59	B	0.37451	0.25	T	0.47686	-0.9098	10	0.56958	D	0.05	-6.3498	15.5661	0.76294	0.0:1.0:0.0:0.0	.	241	Q5TGY3	AHDC1_HUMAN	N	241	ENSP00000247087:D241N;ENSP00000363123:D241N	ENSP00000247087:D241N	D	-	1	0	AHDC1	27750493	0.990000	0.36364	0.565000	0.28409	0.808000	0.45660	5.119000	0.64679	2.407000	0.81776	0.467000	0.42956	GAC		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			11	27	0	0	0	1	0	11	27				
IGHV1-46	28465	broad.mit.edu	37	14	106967495	106967495	+	RNA	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106967495T>G	ENST00000390622.2	-	0	293									immunoglobulin heavy variable 1-46																		GGTGAAGAACTTTCCTCTCAG	0.488																																						ENST00000390622.2																			0																				74.0	76.0	75.0					14																	106967495		1887	4106	5993			0							g.chr14:106967495T>G	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967495T>G														0	293	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.488	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		14	21	0	0	0	1	0	14	21				
THOC2	57187	broad.mit.edu	37	X	122761551	122761551	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:122761551T>C	ENST00000245838.8	-	23	2781	c.2750A>G	c.(2749-2751)cAg>cGg	p.Q917R	THOC2_ENST00000491737.1_Missense_Mutation_p.Q802R|THOC2_ENST00000355725.4_Missense_Mutation_p.Q917R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	917					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACCATTTCCTGATTGTCATC	0.343																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2749-2751)cAg>cGg		THO complex 2							165.0	135.0	144.0					X																	122761551		1877	4097	5974	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122761551T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2750A>G	X.37:g.122761551T>C	ENSP00000245838:p.Gln917Arg					THOC2_ENST00000491737.1_Missense_Mutation_p.Q802R|THOC2_ENST00000355725.4_Missense_Mutation_p.Q917R	p.Q917R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			23	2781	-			917					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2750A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923880	0.34002	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	T;T;T	0.46819	0.86;0.86;0.86	5.73	5.73	0.89815	THO complex, subunitTHOC2, C-terminal (1);	0.187686	0.37393	N	0.002113	T	0.10594	0.0259	N	0.00045	-2.445	0.34381	D	0.693073	B;B	0.06786	0.001;0.001	B;B	0.17098	0.004;0.017	T	0.25433	-1.0132	10	0.08599	T	0.76	-10.3962	10.4581	0.44563	0.1472:0.0:0.0:0.8528	.	842;917	B4DKZ6;Q8NI27	.;THOC2_HUMAN	R	917;917;802;842	ENSP00000245838:Q917R;ENSP00000347959:Q917R;ENSP00000419795:Q802R	ENSP00000245838:Q917R	Q	-	2	0	THOC2	122589232	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.960000	0.63673	2.036000	0.60181	0.486000	0.48141	CAG		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			23	11	0	0	0	1	0	23	11				
RBM15B	29890	broad.mit.edu	37	3	51431205	51431205	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:51431205C>T	ENST00000323686.4	+	1	2475	c.2375C>T	c.(2374-2376)gCg>gTg	p.A792V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	792	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACGGCTATGCGGTCCTCTTA	0.637																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(2374-2376)gCg>gTg		RNA binding motif protein 15B							44.0	48.0	47.0					3																	51431205		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51431205C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2375C>T	3.37:g.51431205C>T	ENSP00000313890:p.Ala792Val						p.A792V	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2475	+			792			Interaction with Epstein-Barr virus BMLF1.|SPOC.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.2375C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637670	0.67130	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.20200	2.09	5.82	4.84	0.62591	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.22475	0.0542	L	0.54323	1.7	0.48341	D	0.999636	B	0.24043	0.096	B	0.21151	0.033	T	0.02398	-1.1165	9	0.54805	T	0.06	-11.2713	13.383	0.60780	0.0:0.8973:0.0:0.1027	.	792	Q8NDT2	RB15B_HUMAN	V	792;113;465;211	ENSP00000313890:A792V	ENSP00000313890:A792V	A	+	2	0	RBM15B	51406245	0.999000	0.42202	0.455000	0.27031	0.874000	0.50279	3.982000	0.56909	2.756000	0.94617	0.561000	0.74099	GCG		0.637	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		13	21	0	0	0	1	0	13	21				
KRTAP19-3	337970	broad.mit.edu	37	21	31864120	31864120	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:31864120G>A	ENST00000334063.4	-	1	155	c.156C>T	c.(154-156)ggC>ggT	p.G52G		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	52						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CATATCCATAGCCTCCAAAGC	0.542																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(154-156)ggC>ggT		keratin associated protein 19-3							191.0	196.0	194.0					21																	31864120		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864120G>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.156C>T	21.37:g.31864120G>A							p.G52G	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	155	-			52						Silent	SNP	ENST00000334063.4	37	c.156C>T	CCDS13596.1																																																																																				0.542	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			80	36	0	0	0	1	0	80	36				
SLC35A4	113829	broad.mit.edu	37	5	139947311	139947311	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139947311C>T	ENST00000514199.1	+	2	2243	c.557C>T	c.(556-558)cCg>cTg	p.P186L	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.P186L			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	186	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.P186L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATATCACTCCGCTAGGCCTG	0.617																																						ENST00000514199.1																			1	Substitution - Missense(1)	p.P186L(1)	endometrium(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(556-558)cCg>cTg		solute carrier family 35, member A4							84.0	79.0	81.0					5																	139947311		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947311C>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.557C>T	5.37:g.139947311C>T	ENSP00000424566:p.Pro186Leu					APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.P186L	p.P186L			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2243	+			186			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.557C>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	C	5.297	0.240145	0.10023	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.37752	1.18;1.18	4.78	3.91	0.45181	.	0.213202	0.41194	D	0.000936	T	0.20414	0.0491	N	0.19112	0.55	0.44976	D	0.997991	B	0.18968	0.032	B	0.15484	0.013	T	0.06023	-1.0850	9	.	.	.	-25.3299	8.0979	0.30840	0.0:0.751:0.0:0.249	.	186	Q96G79	S35A4_HUMAN	L	186	ENSP00000327133:P186L;ENSP00000424566:P186L	.	P	+	2	0	SLC35A4	139927495	0.967000	0.33354	0.996000	0.52242	0.690000	0.40134	2.797000	0.47877	1.234000	0.43709	0.462000	0.41574	CCG		0.617	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		35	50	0	0	0	1	0	35	50				
AFF3	3899	broad.mit.edu	37	2	100181979	100181979	+	Missense_Mutation	SNP	G	G	A	rs530073150		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:100181979G>A	ENST00000409236.2	-	18	3201	c.3089C>T	c.(3088-3090)aCg>aTg	p.T1030M	AFF3_ENST00000356421.2_Missense_Mutation_p.T1055M|AFF3_ENST00000409579.1_Missense_Mutation_p.T1055M|AFF3_ENST00000317233.4_Missense_Mutation_p.T1030M			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1030				T -> YL (in Ref. 1; AAA98763). {ECO:0000305}.	embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAATACATCGTATAAGGAGA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20230	0.0		0.0	False		,,,				2504	0.001					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3088-3090)aCg>aTg		AF4/FMR2 family, member 3							192.0	180.0	184.0					2																	100181979		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100181979G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3089C>T	2.37:g.100181979G>A	ENSP00000387207:p.Thr1030Met					AFF3_ENST00000409579.1_Missense_Mutation_p.T1055M|AFF3_ENST00000356421.2_Missense_Mutation_p.T1055M|AFF3_ENST00000409236.1_Missense_Mutation_p.T1030M	p.T1030M	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			19	3324	-			1030	T -> YL (in Ref. 1; AAA98763).				B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3089C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025103	0.75390	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.67	4.79	0.61399	.	0.055536	0.64402	N	0.000001	D	0.83184	0.5199	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;0.975	D;B	0.85130	0.997;0.356	D	0.86314	0.1688	10	0.72032	D	0.01	.	15.1141	0.72388	0.0683:0.0:0.9317:0.0	.	1030;1055	P51826;P51826-2	AFF3_HUMAN;.	M	1030;1055;1055;1030;72	ENSP00000317421:T1030M;ENSP00000348793:T1055M;ENSP00000386834:T1055M;ENSP00000387207:T1030M;ENSP00000416685:T72M	ENSP00000317421:T1030M	T	-	2	0	AFF3	99548411	1.000000	0.71417	0.297000	0.24988	0.990000	0.78478	7.915000	0.87484	1.531000	0.49152	-0.150000	0.13652	ACG		0.448	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		44	61	0	0	0	1	0	44	61				
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	A	rs202002897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:26881626G>A	ENST00000231021.4	-	12	2161	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16632	0.001		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1987-1989)ggC>ggT		cadherin 9, type 2 (T1-cadherin)							162.0	164.0	163.0					5																	26881626		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881626G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1989C>T	5.37:g.26881626G>A							p.G663G	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2161	-			663					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1989C>T	CCDS3893.1																																																																																				0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		56	68	0	0	0	1	0	56	68				
EXD2	55218	broad.mit.edu	37	14	69704572	69704572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69704572C>T	ENST00000409018.3	+	8	1701	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	EXD2_ENST00000409014.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000312994.5_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409949.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000492815.1_3'UTR|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000449989.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409675.1_Nonsense_Mutation_p.Q400*	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	525							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGAGCTGCTGCAAGCACTCAG	0.587																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1198-1200)Caa>Taa		exonuclease 3'-5' domain containing 2							26.0	29.0	28.0					14																	69704572		2203	4300	6503	SO:0001587	stop_gained	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704572C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1573C>T	14.37:g.69704572C>T	ENSP00000387331:p.Gln525*					EXD2_ENST00000409675.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000409018.3_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000312994.5_Nonsense_Mutation_p.Q525*|EXD2_ENST00000409949.1_Nonsense_Mutation_p.Q400*|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN			10	1855	+			400					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Nonsense_Mutation	SNP	ENST00000409018.3	37	c.1198C>T	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534109	0.85812	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	.	.	.	5.51	4.61	0.57282	.	0.811875	0.12233	N	0.487249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.0376	11.4275	0.50020	0.1419:0.7218:0.1364:0.0	.	.	.	.	X	525;400;400;400;400;525;400	.	ENSP00000313140:Q525X	Q	+	1	0	EXD2	68774325	0.976000	0.34144	0.985000	0.45067	0.657000	0.38888	1.845000	0.39279	1.546000	0.49388	-0.312000	0.09012	CAA		0.587	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			8	5	0	0	0	1	0	8	5				
AOC2	314	broad.mit.edu	37	17	40998087	40998087	+	Missense_Mutation	SNP	C	C	T	rs151168110		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40998087C>T	ENST00000253799.3	+	1	1471	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	AOC2_ENST00000452774.2_Missense_Mutation_p.R482W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	482					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.R482W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTTGAAGGGCGGGTCCATGC	0.547																																						ENST00000253799.3																			1	Substitution - Missense(1)	p.R482W(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1444-1446)Cgg>Tgg		amine oxidase, copper containing 2 (retina-specific)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	106.0	107.0		1444,1444	2.0	0.4	17	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	AOC2	NM_001158.3,NM_009590.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	482/730,482/757	40998087	1,13005	2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40998087C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1444C>T	17.37:g.40998087C>T	ENSP00000253799:p.Arg482Trp					AOC2_ENST00000452774.2_Missense_Mutation_p.R482W	p.R482W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1471	+		Breast(137;0.000143)	482					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1444C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207614	0.39003	2.27E-4	0.0	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03831	3.79;3.79	5.23	1.96	0.26148	Copper amine oxidase, C-terminal (3);	0.089274	0.50627	D	0.000118	T	0.19406	0.0466	M	0.76002	2.32	0.44469	D	0.997402	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.975	T	0.00443	-1.1736	10	0.87932	D	0	-1.194	14.6237	0.68605	0.6848:0.3152:0.0:0.0	.	482;482	O75106;O75106-2	AOC2_HUMAN;.	W	482	ENSP00000253799:R482W;ENSP00000406134:R482W	ENSP00000253799:R482W	R	+	1	2	AOC2	38251613	1.000000	0.71417	0.450000	0.26969	0.501000	0.33797	3.040000	0.49799	0.154000	0.19237	-0.282000	0.10007	CGG		0.547	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	88	0	0	0	1	0	5	88				
ZNF366	167465	broad.mit.edu	37	5	71752270	71752270	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:71752270G>A	ENST00000318442.5	-	3	1975	c.1485C>T	c.(1483-1485)caC>caT	p.H495H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	495	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGACGATCATGTGTGCCTTGA	0.547																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1483-1485)caC>caT		zinc finger protein 366							329.0	278.0	295.0					5																	71752270		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752270G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1485C>T	5.37:g.71752270G>A							p.H495H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1975	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	495					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1485C>T	CCDS4015.1																																																																																				0.547	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			90	106	0	0	0	1	0	90	106				
MDH1	4190	broad.mit.edu	37	2	63833095	63833095	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:63833095T>C	ENST00000233114.8	+	8	1247	c.812T>C	c.(811-813)gTt>gCt	p.V271A	MDH1_ENST00000394423.1_Missense_Mutation_p.V271A|MDH1_ENST00000409476.1_Missense_Mutation_p.V147A|MDH1_ENST00000544381.1_Missense_Mutation_p.V182A|MDH1_ENST00000539945.1_Missense_Mutation_p.V289A|MDH1_ENST00000409908.1_Missense_Mutation_p.V106A	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	271					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						TCCATGGGTGTTATCTCTGAT	0.378																																						ENST00000233114.8																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						c.(811-813)gTt>gCt		malate dehydrogenase 1, NAD (soluble)	NADH(DB00157)						407.0	368.0	381.0					2																	63833095		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63833095T>C		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.812T>C	2.37:g.63833095T>C	ENSP00000233114:p.Val271Ala					MDH1_ENST00000544381.1_Missense_Mutation_p.V182A|MDH1_ENST00000539945.1_Missense_Mutation_p.V289A|MDH1_ENST00000409908.1_Missense_Mutation_p.V106A|MDH1_ENST00000409476.1_Missense_Mutation_p.V147A|MDH1_ENST00000394423.1_Missense_Mutation_p.V271A	p.V271A	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN			8	1247	+			271					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.812T>C	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545961	0.86022	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.63	5.63	0.86233	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.288102	0.38837	N	0.001553	D	0.87569	0.6210	M	0.93550	3.43	0.80722	D	1	P;D	0.60575	0.891;0.988	P;D	0.65874	0.695;0.939	D	0.90816	0.4705	10	0.87932	D	0	-14.6366	16.1297	0.81418	0.0:0.0:0.0:1.0	.	289;271	F5H098;P40925	.;MDHC_HUMAN	A	271;106;147;289;182;271	ENSP00000233114:V271A;ENSP00000386743:V106A;ENSP00000386719:V147A;ENSP00000438144:V289A;ENSP00000446395:V182A;ENSP00000377945:V271A	ENSP00000233114:V271A	V	+	2	0	MDH1	63686599	1.000000	0.71417	0.087000	0.20705	0.963000	0.63663	7.655000	0.83696	2.270000	0.75569	0.460000	0.39030	GTT		0.378	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			51	98	0	0	0	1	0	51	98				
HHAT	55733	broad.mit.edu	37	1	210591653	210591653	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210591653C>T	ENST00000367010.1	+	7	1067	c.840C>T	c.(838-840)gtC>gtT	p.V280V	HHAT_ENST00000537898.1_Silent_p.V215V|HHAT_ENST00000261458.3_Silent_p.V280V|HHAT_ENST00000541565.1_Silent_p.V143V|HHAT_ENST00000545154.1_Silent_p.V281V|HHAT_ENST00000545781.1_Silent_p.V217V|HHAT_ENST00000391905.3_Silent_p.V280V|HHAT_ENST00000308852.6_Silent_p.V235V|HHAT_ENST00000413764.2_Silent_p.V280V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	280					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGAGACTGTCTCTTGTTGGA	0.562																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(838-840)gtC>gtT		hedgehog acyltransferase							90.0	84.0	86.0					1																	210591653		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591653C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.840C>T	1.37:g.210591653C>T						HHAT_ENST00000537898.1_Silent_p.V215V|HHAT_ENST00000308852.6_Silent_p.V235V|HHAT_ENST00000545781.1_Silent_p.V217V|HHAT_ENST00000545154.1_Silent_p.V281V|HHAT_ENST00000541565.1_Silent_p.V143V|HHAT_ENST00000391905.3_Silent_p.V280V|HHAT_ENST00000413764.2_Silent_p.V280V|HHAT_ENST00000261458.3_Silent_p.V280V	p.V280V	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	7	1067	+			280					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.840C>T	CCDS1495.1																																																																																				0.562	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		4	36	0	0	0	1	0	4	36				
PTPN9	5780	broad.mit.edu	37	15	75761284	75761284	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75761284C>A	ENST00000306726.2	-	13	2120	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	536	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAAGCTCCTCCAGCTGTG	0.527																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1606-1608)gaG>gaT		protein tyrosine phosphatase, non-receptor type 9							77.0	63.0	67.0					15																	75761284		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75761284C>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1608G>T	15.37:g.75761284C>A	ENSP00000303554:p.Glu536Asp						p.E536D	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			13	2120	-			536			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1608G>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286754	0.40494	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	6.17	2.99	0.34606	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.157674	0.56097	D	0.000024	T	0.74718	0.3753	L	0.33339	1.005	0.46499	D	0.999077	B	0.06786	0.001	B	0.12837	0.008	T	0.69465	-0.5138	10	0.72032	D	0.01	.	5.322	0.15885	0.1449:0.5864:0.0:0.2688	.	536	P43378	PTN9_HUMAN	D	536;526	ENSP00000303554:E536D	ENSP00000303554:E536D	E	-	3	2	PTPN9	73548337	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.443000	0.21644	0.943000	0.37553	0.655000	0.94253	GAG		0.527	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			5	19	1	0	0.014758	1	0.0148771	5	19				
CLTB	1212	broad.mit.edu	37	5	175824951	175824951	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175824951C>A	ENST00000310418.4	-	3	537	c.332G>T	c.(331-333)aGg>aTg	p.R111M	CLTB_ENST00000345807.2_Missense_Mutation_p.R111M	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	111	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CAGCCGTTTCCTCTGCTCCTC	0.657																																						ENST00000310418.4																			0				lung(1)	1						c.(331-333)aGg>aTg		clathrin, light chain B							96.0	105.0	102.0					5																	175824951		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824951C>A	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.332G>T	5.37:g.175824951C>A	ENSP00000309415:p.Arg111Met					CLTB_ENST00000345807.2_Missense_Mutation_p.R111M	p.R111M	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	3	537	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	111			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.332G>T	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161191	0.38119	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000508425	.	.	.	4.33	-3.74	0.04385	.	0.310848	0.33712	N	0.004632	T	0.37679	0.1012	N	0.20685	0.6	0.25802	N	0.984495	B;D	0.58620	0.027;0.983	B;P	0.57776	0.043;0.827	T	0.46076	-0.9217	9	0.41790	T	0.15	.	13.8693	0.63608	0.0:0.1033:0.0:0.8967	.	111;111	P09497-2;P09497	.;CLCB_HUMAN	M	111;111;77	.	ENSP00000309415:R111M	R	-	2	0	CLTB	175757557	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	2.204000	0.42761	-0.680000	0.05211	-0.391000	0.06502	AGG		0.657	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			33	60	1	0	5.71845e-15	1	6.25391e-15	33	60				
TTC21A	199223	broad.mit.edu	37	3	39159586	39159586	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:39159586T>C	ENST00000431162.2	+	7	877	c.743T>C	c.(742-744)aTt>aCt	p.I248T	TTC21A_ENST00000301819.6_Missense_Mutation_p.I248T|TTC21A_ENST00000440121.1_Missense_Mutation_p.I207T			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	248										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGAGCAATATTGATGCCTGC	0.428																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(742-744)aTt>aCt		tetratricopeptide repeat domain 21A							155.0	160.0	158.0					3																	39159586		2085	4220	6305	SO:0001583	missense	199223						binding	g.chr3:39159586T>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.743T>C	3.37:g.39159586T>C	ENSP00000398211:p.Ile248Thr					TTC21A_ENST00000431162.2_Missense_Mutation_p.I248T|TTC21A_ENST00000440121.1_Missense_Mutation_p.I207T	p.I248T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	7	920	+			248					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.743T>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630915	0.67015	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.58210	0.35;0.35;2.31	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.104677	0.42964	D	0.000633	T	0.67468	0.2896	M	0.73962	2.25	0.23802	N	0.996809	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.998;0.999	D;D;D;P;D	0.65443	0.926;0.935;0.935;0.863;0.935	T	0.61412	-0.7068	10	0.15952	T	0.53	-7.2065	13.4454	0.61138	0.0:0.0:0.0:1.0	.	207;248;248;248;248	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	T	248;248;248;207	ENSP00000301819:I248T;ENSP00000398211:I248T;ENSP00000410882:I207T	ENSP00000301819:I248T	I	+	2	0	TTC21A	39134590	0.977000	0.34250	0.033000	0.17914	0.990000	0.78478	3.590000	0.53979	2.064000	0.61679	0.460000	0.39030	ATT		0.428	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		44	63	0	0	0	1	0	44	63				
UNC5C	8633	broad.mit.edu	37	4	96106267	96106267	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:96106267G>A	ENST00000453304.1	-	13	2565	c.2217C>T	c.(2215-2217)caC>caT	p.H739H		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	739					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGCGCAGGTTGTGGGTGCTGC	0.463																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2215-2217)caC>caT		unc-5 homolog C (C. elegans)							115.0	114.0	114.0					4																	96106267		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106267G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2217C>T	4.37:g.96106267G>A							p.H739H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2565	-		Hepatocellular(203;0.114)	739					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2217C>T	CCDS3643.1																																																																																				0.463	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		46	65	0	0	0	1	0	46	65				
CYP2C9	1559	broad.mit.edu	37	10	96701627	96701627	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:96701627T>C	ENST00000260682.6	+	2	193	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	61					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCAAAGGTCTATGGCCCTGT	0.413																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(181-183)Tat>Cat		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						239.0	231.0	233.0					10																	96701627		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701627T>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.181T>C	10.37:g.96701627T>C	ENSP00000260682:p.Tyr61His					CYP2C9_ENST00000461906.1_3'UTR	p.Y61H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	193	+		Colorectal(252;0.0902)	61					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.181T>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995715	0.35226	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.74632	-0.86	3.56	3.56	0.40772	.	0.200793	0.34555	U	0.003876	D	0.85405	0.5689	M	0.86651	2.83	0.36276	D	0.855502	P;P;D	0.57571	0.945;0.945;0.98	P;P;D	0.66716	0.889;0.889;0.946	D	0.89460	0.3736	10	0.72032	D	0.01	.	10.3538	0.43952	0.0:0.0:0.0:1.0	.	61;61;61	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	H	61	ENSP00000260682:Y61H	ENSP00000260682:Y61H	Y	+	1	0	CYP2C9	96691617	0.998000	0.40836	0.804000	0.32291	0.164000	0.22412	3.066000	0.50002	1.595000	0.50050	0.397000	0.26171	TAT		0.413	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		44	84	0	0	0	1	0	44	84				
PLCXD1	55344	broad.mit.edu	37	X	207434	207434	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:207434G>A	ENST00000381657.2	+	4	898	c.384G>A	c.(382-384)gcG>gcA	p.A128A	PLCXD1_ENST00000399012.1_Silent_p.A128A|PLCXD1_ENST00000381663.3_Silent_p.A128A|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	128	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACACAACGGCGCTGGTGGAGG	0.667																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(382-384)gcG>gcA		phosphatidylinositol-specific phospholipase C, X domain containing 1							169.0	147.0	154.0					X																	207434		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:207434G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.384G>A	X.37:g.207434G>A						PLCXD1_ENST00000381663.3_Silent_p.A128A|PLCXD1_ENST00000399012.1_Silent_p.A128A|PLCXD1_ENST00000484611.2_3'UTR	p.A128A	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			4	898	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	128			PI-PLC X-box.		A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.384G>A	CCDS14103.1																																																																																				0.667	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		9	20	0	0	0	1	0	9	20				
ERICH3	127254	broad.mit.edu	37	1	75037218	75037218	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75037218C>T	ENST00000326665.5	-	14	4394	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1392	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTACTAACTCATCCTGTT	0.498																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(4174-4176)gaG>gaA		chromosome 1 open reading frame 173							100.0	97.0	98.0					1																	75037218		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037218C>T																												ENST00000326665.5:c.4176G>A	1.37:g.75037218C>T						C1orf173_ENST00000433746.2_5'UTR	p.E1392E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4394	-			1392			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4176G>A	CCDS30755.1																																																																																				0.498	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			26	47	0	0	0	1	0	26	47				
TSC22D1	8848	broad.mit.edu	37	13	45148315	45148315	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:45148315C>A	ENST00000458659.2	-	1	2386	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	632	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCATTGGTTGCTGTTGTCCAT	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1894-1896)caG>caT		TSC22 domain family, member 1							114.0	112.0	113.0					13																	45148315		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148315C>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1896G>T	13.37:g.45148315C>A	ENSP00000397435:p.Gln632His					TSC22D1_ENST00000501704.2_Intron	p.Q632H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2386	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	632			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1896G>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101292	0.06967	.	.	ENSG00000102804	ENST00000458659	T	0.32272	1.46	4.68	0.976	0.19727	.	0.238614	0.29653	N	0.011551	T	0.14787	0.0357	L	0.27053	0.805	0.30027	N	0.813779	B	0.06786	0.001	B	0.04013	0.001	T	0.09997	-1.0649	10	0.27785	T	0.31	.	0.7954	0.01065	0.1609:0.3426:0.1571:0.3394	.	632	Q15714	T22D1_HUMAN	H	632	ENSP00000397435:Q632H	ENSP00000397435:Q632H	Q	-	3	2	TSC22D1	44046315	0.987000	0.35691	0.038000	0.18304	0.664000	0.39144	0.414000	0.21164	-0.028000	0.13850	0.491000	0.48974	CAG		0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		27	45	1	0	1.75199e-13	1	1.90424e-13	27	45				
OR2L13	284521	broad.mit.edu	37	1	248263256	248263256	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248263256C>T	ENST00000358120.2	+	2	724	c.579C>T	c.(577-579)gtC>gtT	p.V193V	OR2L13_ENST00000366478.2_Silent_p.V193V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			ATACTTGGGTCTATGAATATA	0.438																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(577-579)gtC>gtT		olfactory receptor, family 2, subfamily L, member 13							239.0	221.0	227.0					1																	248263256		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263256C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.579C>T	1.37:g.248263256C>T						OR2L13_ENST00000358120.2_Silent_p.V193V	p.V193V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	916	+	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)		193					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.579C>T	CCDS1637.1																																																																																				0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		55	66	0	0	0	1	0	55	66				
ZNF18	7566	broad.mit.edu	37	17	11896029	11896029	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11896029C>T	ENST00000322748.3	-	4	722	c.118G>A	c.(118-120)Gca>Aca	p.A40T	ZNF18_ENST00000454073.3_Missense_Mutation_p.A40T|ZNF18_ENST00000580306.2_Missense_Mutation_p.A40T	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	40					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTGGCGTGCGGTCTCAGGG	0.582																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(118-120)Gca>Aca		zinc finger protein 18							87.0	82.0	84.0					17																	11896029		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11896029C>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.118G>A	17.37:g.11896029C>T	ENSP00000315664:p.Ala40Thr					ZNF18_ENST00000580613.1_5'UTR|ZNF18_ENST00000580306.1_Missense_Mutation_p.A40T|ZNF18_ENST00000454073.3_Missense_Mutation_p.A40T	p.A40T	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	722	-			40					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.118G>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294389	0.60086	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.04406	3.63;3.63	5.29	4.25	0.50352	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.45361	D	0.000367	T	0.19366	0.0465	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.929;0.98	T	0.02909	-1.1095	10	0.36615	T	0.2	-14.3875	10.3898	0.44162	0.195:0.805:0.0:0.0	.	40;40	P17022-2;P17022	.;ZNF18_HUMAN	T	40	ENSP00000391376:A40T;ENSP00000315664:A40T	ENSP00000315664:A40T	A	-	1	0	ZNF18	11836754	0.018000	0.18449	0.236000	0.24074	0.888000	0.51559	0.536000	0.23129	2.473000	0.83533	0.655000	0.94253	GCA		0.582	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		26	37	0	0	0	1	0	26	37				
PTGS2	5743	broad.mit.edu	37	1	186646006	186646006	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186646006G>A	ENST00000367468.5	-	6	818	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	228			R -> H (in dbSNP:rs3218622). {ECO:0000269|Ref.6}.		anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CGCAGTTTACGCTGTCTAGCC	0.308																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(682-684)Cgt>Tgt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						132.0	148.0	143.0					1																	186646006		2203	4299	6502	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186646006G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.682C>T	1.37:g.186646006G>A	ENSP00000356438:p.Arg228Cys					PTGS2_ENST00000490885.2_5'UTR	p.R228C	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			6	818	-			228		R -> H (in dbSNP:rs3218622).			A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.682C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597529	0.87055	.	.	ENSG00000073756	ENST00000367468	T	0.70516	-0.49	5.51	5.51	0.81932	.	0.139327	0.64402	D	0.000004	T	0.72236	0.3435	L	0.34521	1.04	0.26906	N	0.967016	P;P	0.45283	0.855;0.844	B;P	0.53062	0.088;0.717	T	0.68750	-0.5326	10	0.72032	D	0.01	-21.3273	15.0873	0.72165	0.0:0.0:0.8578:0.1422	.	228;228	Q8IZA9;P35354	.;PGH2_HUMAN	C	228	ENSP00000356438:R228C	ENSP00000356438:R228C	R	-	1	0	PTGS2	184912629	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.431000	0.59915	2.586000	0.87340	0.650000	0.86243	CGT		0.308	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		52	96	0	0	0	1	0	52	96				
DYTN	391475	broad.mit.edu	37	2	207527852	207527852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207527852G>A	ENST00000452335.2	-	11	1524	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	470						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCATCTTTTGTGTTTGGCTT	0.493																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(1408-1410)Caa>Taa		dystrotelin							179.0	170.0	173.0					2																	207527852		2014	4184	6198	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207527852G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1408C>T	2.37:g.207527852G>A	ENSP00000396593:p.Gln470*						p.Q470*	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1524	-			470						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.1408C>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707587	0.89018	.	.	ENSG00000232125	ENST00000452335	.	.	.	5.12	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-6.2503	11.4036	0.49885	0.0:0.1823:0.8177:0.0	.	.	.	.	X	470	.	ENSP00000396593:Q470X	Q	-	1	0	DYTN	207236097	0.964000	0.33143	0.437000	0.26809	0.018000	0.09664	2.892000	0.48625	1.454000	0.47793	0.650000	0.86243	CAA		0.493	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			14	17	0	0	0	1	0	14	17				
SMURF1	57154	broad.mit.edu	37	7	98633252	98633252	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98633252C>T	ENST00000361125.1	-	17	2294	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M	SMURF1_ENST00000361368.2_Missense_Mutation_p.V633M|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	659	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			AACCACCGCACGATGTTGCTG	0.577																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1975-1977)Gtg>Atg		SMAD specific E3 ubiquitin protein ligase 1							119.0	106.0	110.0					7																	98633252		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98633252C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1975G>A	7.37:g.98633252C>T	ENSP00000354621:p.Val659Met					AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.V633M|AC004893.11_ENST00000468960.2_RNA	p.V659M	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		17	2294	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		659			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1975G>A	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310098	0.95629	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.61392	0.11;0.11	5.37	5.37	0.77165	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72625	0.962;0.964;0.978	D	0.84449	0.0587	10	0.87932	D	0	.	19.1035	0.93283	0.0:1.0:0.0:0.0	.	633;659;633	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	M	633;659	ENSP00000355326:V633M;ENSP00000354621:V659M	ENSP00000354621:V659M	V	-	1	0	SMURF1	98471188	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	7.792000	0.85828	2.535000	0.85469	0.655000	0.94253	GTG		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		15	20	0	0	0	1	0	15	20				
ZBTB9	221504	broad.mit.edu	37	6	33423633	33423633	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33423633A>G	ENST00000395064.2	+	2	1024	c.756A>G	c.(754-756)ccA>ccG	p.P252P		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	252	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACCCCACCCACTGCCCATGA	0.562																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(754-756)ccA>ccG		zinc finger and BTB domain containing 9							64.0	66.0	65.0					6																	33423633		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423633A>G	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.756A>G	6.37:g.33423633A>G							p.P252P	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1024	+			252			Pro-rich.		A2AB19	Silent	SNP	ENST00000395064.2	37	c.756A>G	CCDS4780.1																																																																																				0.562	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		13	25	0	0	0	1	0	13	25				
VPS26A	9559	broad.mit.edu	37	10	70917884	70917884	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70917884C>A	ENST00000373382.1	+	6	1121	c.468C>A	c.(466-468)acC>acA	p.T156T	VPS26A_ENST00000263559.6_Silent_p.T156T|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000395098.1_Silent_p.T156T|VPS26A_ENST00000489794.1_Silent_p.T131T|VPS26A_ENST00000546041.1_Silent_p.T139T|VPS26A_ENST00000541711.1_Silent_p.T45T			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	156					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGCTTGCCACCTATCCTGATG	0.323																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(466-468)acC>acA		vacuolar protein sorting 26 homolog A (S. pombe)							93.0	90.0	91.0					10																	70917884		2203	4300	6503	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917884C>A	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.468C>A	10.37:g.70917884C>A						VPS26A_ENST00000395098.1_Silent_p.T156T|VPS26A_ENST00000263559.6_Silent_p.T156T|VPS26A_ENST00000546041.1_Silent_p.T139T|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000489794.1_Silent_p.T131T|VPS26A_ENST00000541711.1_Silent_p.T45T	p.T156T			O75436	VP26A_HUMAN			6	1121	+			156					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.468C>A	CCDS7286.1																																																																																				0.323	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		14	25	1	0	6.94344e-10	1	7.39541e-10	14	25				
TMEM132B	114795	broad.mit.edu	37	12	126138923	126138923	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:126138923C>T	ENST00000299308.3	+	9	2912	c.2904C>T	c.(2902-2904)tgC>tgT	p.C968C	TMEM132B_ENST00000535886.1_Silent_p.C480C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	968						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGAGGAGTGCACAACCATGA	0.512																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2902-2904)tgC>tgT		transmembrane protein 132B							67.0	64.0	65.0					12																	126138923		1913	4123	6036	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138923C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2904C>T	12.37:g.126138923C>T						TMEM132B_ENST00000535886.1_Silent_p.C480C	p.C968C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2912	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		968					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2904C>T	CCDS41859.1																																																																																				0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		13	21	0	0	0	1	0	13	21				
ATM	472	broad.mit.edu	37	11	108139244	108139244	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108139244G>A	ENST00000452508.2	+	19	2935	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	AP001925.1_ENST00000596081.1_5'Flank|ATM_ENST00000278616.4_Missense_Mutation_p.V916M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	916					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GACCAATACTGTGTCCTTTAG	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(2746-2748)Gtg>Atg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							218.0	204.0	209.0					11																	108139244		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108139244G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2746G>A	11.37:g.108139244G>A	ENSP00000388058:p.Val916Met	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.V916M	p.V916M	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	18	3131	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	916					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.2746G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216749	0.09810	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.73363	-0.74;-0.74;-0.74	5.96	3.09	0.35607	Armadillo-type fold (1);	0.316892	0.34853	N	0.003632	T	0.59662	0.2210	L	0.32530	0.975	0.21822	N	0.999528	B	0.09022	0.002	B	0.13407	0.009	T	0.46789	-0.9166	10	0.33141	T	0.24	.	7.3199	0.26521	0.1899:0.226:0.5841:0.0	.	916	Q13315	ATM_HUMAN	M	916	ENSP00000435747:V916M;ENSP00000278616:V916M;ENSP00000388058:V916M	ENSP00000278616:V916M	V	+	1	0	ATM	107644454	0.992000	0.36948	0.495000	0.27527	0.211000	0.24417	2.151000	0.42263	0.423000	0.26033	-0.175000	0.13238	GTG		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	117	0	0	0	1	0	4	117				
YBX3	8531	broad.mit.edu	37	12	10865863	10865863	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10865863G>A	ENST00000228251.4	-	5	720	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	YBX3_ENST00000279550.7_Missense_Mutation_p.R174W	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	174					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TAACGGCGCCGATCTGCAGCG	0.517																																						ENST00000228251.4																			0											c.(520-522)Cgg>Tgg		Y box binding protein 3							93.0	101.0	98.0					12																	10865863		2203	4300	6503	SO:0001583	missense	8531							g.chr12:10865863G>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.520C>T	12.37:g.10865863G>A	ENSP00000228251:p.Arg174Trp					YBX3_ENST00000279550.7_Missense_Mutation_p.R174W	p.R174W	NM_003651.4	NP_003642.3					5	720	-								B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.520C>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050652	0.93740	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.32023	1.47;1.47	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000010	T	0.58163	0.2103	M	0.76838	2.35	0.49915	D	0.999832	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.60367	-0.7277	10	0.56958	D	0.05	.	16.8488	0.85988	0.0:0.0:1.0:0.0	.	174;174	P16989-2;P16989	.;DBPA_HUMAN	W	174	ENSP00000279550:R174W;ENSP00000228251:R174W	ENSP00000228251:R174W	R	-	1	2	CSDA	10757130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.102000	0.50291	2.569000	0.86673	0.491000	0.48974	CGG		0.517	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		4	81	0	0	0	1	0	4	81				
POMGNT2	84892	broad.mit.edu	37	3	43121556	43121556	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43121556G>T	ENST00000344697.2	-	2	1713	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S	POMGNT2_ENST00000441964.1_Silent_p.S456S	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	456					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TTTGAATGAGGGACGGGATGT	0.617																																						ENST00000344697.2																			0											c.(1366-1368)tcC>tcA									41.0	40.0	41.0					3																	43121556		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr3:43121556G>T	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1368C>A	3.37:g.43121556G>T						GTDC2_ENST00000441964.1_Silent_p.S456S	p.S456S	NM_032806.4	NP_116195.2					2	1713	-								B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.1368C>A	CCDS2709.1																																																																																				0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		10	5	1	0	2.80697e-09	1	2.97546e-09	10	5				
TBL3	10607	broad.mit.edu	37	16	2031296	2031296	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2031296C>T	ENST00000568546.1	+	0	5165				GFER_ENST00000248114.6_5'Flank|NOXO1_ENST00000566005.1_5'Flank|NOXO1_ENST00000356120.4_De_novo_Start_OutOfFrame|GFER_ENST00000569451.1_5'Flank|NOXO1_ENST00000397280.4_5'Flank|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_De_novo_Start_OutOfFrame	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3						G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCTGGCAACACCTCAAGCCTG	0.617																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000354249.4																			0				lung(2)	2								NADPH oxidase organizer 1																																				SO:0001624	3_prime_UTR_variant	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2031296C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.*2610C>T	16.37:g.2031296C>T						TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_De_novo_Start_OutOfFrame		NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN			0	254	-								Q59GD6|Q8IVB7|Q96A78	Translation_Start_Site	SNP	ENST00000568546.1	37		CCDS10453.1																																																																																				0.617	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		4	2	0	0	0	1	0	4	2				
DUOX2	50506	broad.mit.edu	37	15	45400384	45400384	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45400384G>T	ENST00000603300.1	-	13	1637	c.1435C>A	c.(1435-1437)Cta>Ata	p.L479I	DUOX2_ENST00000389039.6_Missense_Mutation_p.L479I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	479	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCTGGGATAGGTCCTGGTTG	0.627																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1435-1437)Cta>Ata		dual oxidase 2							57.0	57.0	57.0					15																	45400384		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45400384G>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1435C>A	15.37:g.45400384G>T	ENSP00000475084:p.Leu479Ile					DUOX2_ENST00000603300.1_Missense_Mutation_p.L479I	p.L479I			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	13	1820	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	479			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1435C>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046963	0.36085	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.47	4.55	0.56014	.	0.196259	0.42821	D	0.000646	T	0.29976	0.0750	N	0.20445	0.575	0.35795	D	0.82269	B;P	0.41597	0.047;0.756	B;B	0.42882	0.05;0.401	T	0.29912	-0.9996	9	0.20046	T	0.44	-6.0593	4.6945	0.12797	0.0801:0.1427:0.6088:0.1685	.	479;41	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	I	479	.	ENSP00000373691:L479I	L	-	1	2	DUOX2	43187676	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	1.335000	0.33839	1.309000	0.44985	0.655000	0.94253	CTA		0.627	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	27	1	0	3.86212e-05	1	3.97146e-05	11	27				
BTBD2	55643	broad.mit.edu	37	19	1990006	1990006	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1990006C>T	ENST00000255608.4	-	5	1001	c.985G>A	c.(985-987)Gca>Aca	p.A329T	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	329						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTTACCTGCAGCGAACTCC	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(985-987)Gca>Aca		BTB (POZ) domain containing 2							40.0	39.0	40.0					19																	1990006		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1990006C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.985G>A	19.37:g.1990006C>T	ENSP00000255608:p.Ala329Thr					AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	p.A329T	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_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)	5	1001	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	329					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.985G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665869	0.47677	.	.	ENSG00000133243	ENST00000255608	T	0.74002	-0.8	3.9	3.9	0.45041	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	L	0.54323	1.7	0.80722	D	1	P	0.38250	0.624	B	0.36378	0.223	T	0.70303	-0.4909	10	0.33940	T	0.23	.	15.0283	0.71687	0.0:1.0:0.0:0.0	.	329	Q9BX70	BTBD2_HUMAN	T	329	ENSP00000255608:A329T	ENSP00000255608:A329T	A	-	1	0	BTBD2	1941006	1.000000	0.71417	0.873000	0.34254	0.449000	0.32228	7.495000	0.81514	2.020000	0.59435	0.549000	0.68633	GCA		0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			12	14	0	0	0	1	0	12	14				
BHMT	635	broad.mit.edu	37	5	78417174	78417174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:78417174G>A	ENST00000274353.5	+	5	718	c.611G>A	c.(610-612)cGc>cAc	p.R204H	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	204	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGTGCAGTGCGCCTGGTGAAA	0.468																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(610-612)cGc>cAc		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						80.0	72.0	74.0					5																	78417174		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417174G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.611G>A	5.37:g.78417174G>A	ENSP00000274353:p.Arg204His					DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	p.R204H	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	718	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	204			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.611G>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591814	0.86953	.	.	ENSG00000145692	ENST00000274353	T	0.12147	2.71	5.3	5.3	0.74995	Homocysteine S-methyltransferase (4);	0.088987	0.85682	D	0.000000	T	0.38374	0.1038	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.37174	-0.9717	10	0.15066	T	0.55	-20.9064	13.1645	0.59562	0.0837:0.0:0.9163:0.0	.	204	Q93088	BHMT1_HUMAN	H	204	ENSP00000274353:R204H	ENSP00000274353:R204H	R	+	2	0	BHMT	78452930	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.106000	0.64597	2.637000	0.89404	0.650000	0.86243	CGC		0.468	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		19	29	0	0	0	1	0	19	29				
ABAT	18	broad.mit.edu	37	16	8851662	8851662	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8851662C>T	ENST00000396600.2	+	6	1303	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ABAT_ENST00000268251.8_Splice_Site_p.A122V|ABAT_ENST00000425191.2_Splice_Site_p.A122V|ABAT_ENST00000569156.1_Splice_Site_p.A122V|ABAT_ENST00000567812.1_Splice_Site_p.A137V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	122					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCTCAAAATGCGGTAGGTCTT	0.473																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.e6+1		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						118.0	99.0	105.0					16																	8851662		2197	4300	6497	SO:0001630	splice_region_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8851662C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.366+1C>T	16.37:g.8851662C>T						ABAT_ENST00000567812.1_Splice_Site_p.A137_splice|ABAT_ENST00000268251.8_Splice_Site_p.A122_splice|ABAT_ENST00000425191.2_Splice_Site_p.A122_splice|ABAT_ENST00000569156.1_Splice_Site_p.A122_splice	p.A122_splice	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			6	1303	+			122					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.366_splice	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	0.503	-0.869831	0.02570	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86432	-2.12;-2.12;-2.12	4.96	-0.368	0.12537	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.792828	0.11817	N	0.526634	T	0.70798	0.3265	N	0.17248	0.465	0.32936	D	0.517747	B	0.02656	0.0	B	0.04013	0.001	T	0.60772	-0.7197	10	0.02654	T	1	-10.077	8.2507	0.31715	0.0:0.4548:0.0:0.5452	.	122	P80404	GABT_HUMAN	V	122	ENSP00000268251:A122V;ENSP00000379845:A122V;ENSP00000411916:A122V	ENSP00000268251:A122V	A	+	2	0	ABAT	8759163	0.259000	0.24043	0.226000	0.23910	0.277000	0.26821	0.291000	0.18994	-0.375000	0.07955	-0.367000	0.07326	GCG		0.473	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	Missense_Mutation	15	15	0	0	0	1	0	15	15				
RPGRIP1L	23322	broad.mit.edu	37	16	53672318	53672318	+	Silent	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53672318A>C	ENST00000379925.3	-	20	3014	c.2964T>G	c.(2962-2964)acT>acG	p.T988T	RPGRIP1L_ENST00000262135.4_Intron|RPGRIP1L_ENST00000564374.1_Silent_p.T988T|RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000563746.1_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	988					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAGGAGGAGAAGTCTCCTTAT	0.318																																						ENST00000379925.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(2962-2964)acT>acG		RPGRIP1-like							84.0	81.0	82.0					16																	53672318		2198	4298	6496	SO:0001819	synonymous_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53672318A>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2964T>G	16.37:g.53672318A>C						RPGRIP1L_ENST00000564374.1_Silent_p.T988T|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron	p.T988T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN			20	3014	-		all_cancers(37;0.0973)	988					A0PJ88|Q9Y2K8	Silent	SNP	ENST00000379925.3	37	c.2964T>G	CCDS32447.1																																																																																				0.318	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		14	21	0	0	0	1	0	14	21				
RSPH6A	81492	broad.mit.edu	37	19	46299297	46299297	+	Missense_Mutation	SNP	G	G	A	rs577242494	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46299297G>A	ENST00000221538.3	-	6	2126	c.1984C>T	c.(1984-1986)Cca>Tca	p.P662S	RSPH6A_ENST00000600188.1_Missense_Mutation_p.P398S|RSPH6A_ENST00000597055.1_Silent_p.C660C	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	662	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ATGGGGGCTGGCAGGGCCGGG	0.552													G|||	3	0.000599042	0.0	0.0	5008	,	,		13254	0.0		0.0	False		,,,				2504	0.0031					ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1984-1986)Cca>Tca		radial spoke head 6 homolog A (Chlamydomonas)							111.0	122.0	119.0					19																	46299297		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46299297G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1984C>T	19.37:g.46299297G>A	ENSP00000221538:p.Pro662Ser					RSPH6A_ENST00000597055.1_Silent_p.C660C|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P398S	p.P662S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2126	-			662			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1984C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.067963	0.76301	.	.	ENSG00000104941	ENST00000221538	T	0.26223	1.75	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.72353	2.195	0.33688	D	0.613011	D	0.89917	1.0	D	0.80764	0.994	T	0.64266	-0.6448	10	0.66056	D	0.02	-17.129	14.6161	0.68549	0.0:0.0:1.0:0.0	.	662	Q9H0K4	RSH6A_HUMAN	S	662	ENSP00000221538:P662S	ENSP00000221538:P662S	P	-	1	0	RSPH6A	50991137	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.835000	0.69368	2.382000	0.81193	0.551000	0.68910	CCA		0.552	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			47	69	0	0	0	1	0	47	69				
LARP1	23367	broad.mit.edu	37	5	154174848	154174848	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:154174848C>T	ENST00000336314.4	+	8	1139	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	449					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGAGTGCAGGCCCTTACCACT	0.517																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1114-1116)gCc>gTc		La ribonucleoprotein domain family, member 1							166.0	132.0	144.0					5																	154174848		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154174848C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1115C>T	5.37:g.154174848C>T	ENSP00000336721:p.Ala372Val						p.A372V	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		8	1139	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	449					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1115C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936253	0.97122	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78981	-0.1989	10	0.59425	D	0.04	-20.0539	20.6439	0.99570	0.0:1.0:0.0:0.0	.	449;372	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	V	372;449;244;157;56	ENSP00000336721:A372V;ENSP00000428589:A449V;ENSP00000429904:A244V;ENSP00000430438:A157V;ENSP00000431072:A56V	ENSP00000336721:A372V	A	+	2	0	LARP1	154155041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.755000	0.85180	2.884000	0.98904	0.655000	0.94253	GCC		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		15	19	0	0	0	1	0	15	19				
LOC81691	81691	broad.mit.edu	37	16	20835781	20835781	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20835781T>A	ENST00000261377.6	+	7	846	c.637T>A	c.(637-639)Ttt>Att	p.F213I	AC004381.6_ENST00000567297.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.F213I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.F213I|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTGTGAAAACTTTTTACTTAC	0.338																																						ENST00000261377.6																			0											c.(637-639)Ttt>Att									110.0	104.0	106.0					16																	20835781		2201	4299	6500	SO:0001583	missense	0							g.chr16:20835781T>A																												ENST00000261377.6:c.637T>A	16.37:g.20835781T>A	ENSP00000261377:p.Phe213Ile					AC004381.6_ENST00000564274.1_Missense_Mutation_p.F213I|AC004381.6_ENST00000348433.6_Missense_Mutation_p.F213I|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_Intron	p.F213I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					7	846	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.637T>A	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144743	0.57044	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33654	1.4;1.79	4.92	4.92	0.64577	.	0.103370	0.64402	D	0.000002	T	0.34774	0.0909	L	0.48642	1.525	0.45378	D	0.998366	B;B	0.16802	0.019;0.0	B;B	0.21917	0.037;0.004	T	0.19224	-1.0312	10	0.66056	D	0.02	-14.3769	13.8455	0.63466	0.0:0.0:0.0:1.0	.	213;213	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	213	ENSP00000261378:F213I;ENSP00000261377:F213I	ENSP00000261377:F213I	F	+	1	0	AC004381.6	20743282	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.969000	0.70422	1.960000	0.56953	0.459000	0.35465	TTT		0.338	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			20	31	0	0	0	1	0	20	31				
NRIP1	8204	broad.mit.edu	37	21	16339101	16339101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:16339101C>T	ENST00000400202.1	-	3	2125	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.W471*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.W471*|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	471	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTTTTGGATCCCAAGTGTTTA	0.393																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1411-1413)tgG>tgA		nuclear receptor interacting protein 1							135.0	131.0	132.0					21																	16339101		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339101C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1413G>A	21.37:g.16339101C>T	ENSP00000383063:p.Trp471*					NRIP1_ENST00000400199.1_Nonsense_Mutation_p.W471*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.W471*	p.W471*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2125	-			471			Repression domain 2.|Required for targeting to small nuclear foci.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.1413G>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	43	10.385200	0.99395	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4934	20.1669	0.98153	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000327213:W471X	W	-	3	0	NRIP1	15260972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.770000	0.95276	0.650000	0.86243	TGG		0.393	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		18	36	0	0	0	1	0	18	36				
THSD7B	80731	broad.mit.edu	37	2	138400111	138400111	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:138400111C>T	ENST00000409968.1	+	21	4031	c.3853C>T	c.(3853-3855)Cca>Tca	p.P1285S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P1288S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1257S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1287	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAAGGACGGCCATGCCCCAC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3853-3855)Cca>Tca		thrombospondin, type I, domain containing 7B							117.0	118.0	118.0					2																	138400111		1903	4108	6011	SO:0001583	missense	80731							g.chr2:138400111C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3853C>T	2.37:g.138400111C>T	ENSP00000387145:p.Pro1285Ser					THSD7B_ENST00000272643.3_Missense_Mutation_p.P1288S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1257S	p.P1285S						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4031	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3853C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.981467	0.74474	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.53640	0.61;0.61;0.61	5.33	5.33	0.75918	.	0.157915	0.64402	D	0.000019	T	0.52869	0.1761	L	0.57130	1.785	0.80722	D	1	B	0.31790	0.34	B	0.40825	0.341	T	0.44907	-0.9297	10	0.26408	T	0.33	.	17.9482	0.89045	0.0:1.0:0.0:0.0	.	1257	C9JKN6	.	S	1285;1288;1257	ENSP00000387145:P1285S;ENSP00000272643:P1288S;ENSP00000413841:P1257S	ENSP00000272643:P1288S	P	+	1	0	THSD7B	138116581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.721000	0.61951	2.768000	0.95171	0.655000	0.94253	CCA		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		20	27	0	0	0	1	0	20	27				
CUX1	1523	broad.mit.edu	37	7	101926360	101926360	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101926360C>T	ENST00000437600.4	+	23	2361	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	CUX1_ENST00000292538.4_Missense_Mutation_p.A672V|CUX1_ENST00000393824.3_Missense_Mutation_p.A633V|CUX1_ENST00000560541.1_3'UTR|SH2B2_ENST00000536178.1_5'Flank|CUX1_ENST00000547394.2_Missense_Mutation_p.A656V|CUX1_ENST00000425244.2_Missense_Mutation_p.A626V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACGGGGCTGCGGCTGGTGAC	0.622																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2008-2010)gCg>gTg		cut-like homeobox 1							89.0	76.0	80.0					7																	101926360		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101926360C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.2009C>T	7.37:g.101926360C>T	ENSP00000414091:p.Ala670Val					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.A656V|CUX1_ENST00000393824.3_Missense_Mutation_p.A633V|CUX1_ENST00000292538.4_Missense_Mutation_p.A672V|CUX1_ENST00000425244.2_Missense_Mutation_p.A626V	p.A670V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			23	2361	+			0					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.2009C>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039815	0.35989	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	2.66	1.72	0.24424	.	.	.	.	.	T	0.26593	0.0650	N	0.14661	0.345	0.09310	N	1	D;D;D;B;D	0.71674	0.997;0.997;0.998;0.354;0.993	P;P;P;B;P	0.56612	0.689;0.689;0.802;0.061;0.561	T	0.11542	-1.0583	9	0.30854	T	0.27	.	7.2608	0.26201	0.0:0.7235:0.2765:0.0	.	633;626;656;670;672	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	672;656;626;670	ENSP00000292538:A672V;ENSP00000449371:A656V;ENSP00000409745:A626V;ENSP00000414091:A670V	ENSP00000292538:A672V	A	+	2	0	CUX1	101713080	0.098000	0.21812	0.007000	0.13788	0.120000	0.20174	0.905000	0.28504	0.654000	0.30846	0.561000	0.74099	GCG		0.622	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		5	9	0	0	0	1	0	5	9				
CLTCL1	8218	broad.mit.edu	37	22	19210286	19210286	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19210286C>T	ENST00000263200.10	-	15	2411	c.2339G>A	c.(2338-2340)cGt>cAt	p.R780H	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R780H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R780H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	780	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAAGCCAAAACGATCACACAC	0.502			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2338-2340)cGt>cAt		clathrin, heavy chain-like 1							108.0	112.0	110.0					22																	19210286		2109	4220	6329	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19210286C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2339G>A	22.37:g.19210286C>T	ENSP00000445677:p.Arg780His					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R780H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R780H	p.R780H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			15	2411	-	Colorectal(54;0.0993)		780			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2339G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871457	0.51695	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.15256	2.45;2.44;2.44	4.17	3.14	0.36123	Tetratricopeptide-like helical (1);	0.071181	0.56097	D	0.000033	T	0.47746	0.1462	M	0.91818	3.245	0.58432	D	0.999995	D;D	0.89917	1.0;0.998	D;D	0.75484	0.985;0.986	T	0.58797	-0.7573	10	0.87932	D	0	-15.2981	12.2086	0.54367	0.0:0.9155:0.0:0.0845	.	780;780	P53675-2;P53675	.;CLH2_HUMAN	H	780	ENSP00000439662:R780H;ENSP00000445677:R780H;ENSP00000441158:R780H	ENSP00000445677:R780H	R	-	2	0	CLTCL1	17590286	1.000000	0.71417	0.132000	0.22025	0.026000	0.11368	4.183000	0.58317	0.960000	0.38005	0.561000	0.74099	CGT		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	7	0	0	0	1	0	4	7				
ITPRIPL1	150771	broad.mit.edu	37	2	96993213	96993213	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96993213G>A	ENST00000439118.2	+	3	1095	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.V290M	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V290M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTAGGGGACGTGCTGTGCCT	0.612																																						ENST00000361124.4																			1	Substitution - Missense(1)	p.V290M(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(868-870)Gtg>Atg		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							66.0	62.0	63.0					2																	96993213		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993213G>A		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.844G>A	2.37:g.96993213G>A	ENSP00000389308:p.Val282Met					ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.V282M	p.V290M	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1279	+			282					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.868G>A	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.341930	0.11069	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.18502	2.22;2.22;2.21;2.22	5.24	5.24	0.73138	.	0.000000	0.44285	D	0.000480	T	0.11879	0.0289	N	0.08118	0	0.34180	D	0.670804	D;D	0.61697	0.99;0.983	P;P	0.53809	0.735;0.548	T	0.03555	-1.1025	10	0.02654	T	1	-15.4045	11.2036	0.48756	0.0841:0.0:0.9159:0.0	.	290;282	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	M	274;282;290;274	ENSP00000439566:V274M;ENSP00000389308:V282M;ENSP00000355121:V290M;ENSP00000438212:V274M	ENSP00000355121:V290M	V	+	1	0	ITPRIPL1	96356940	0.998000	0.40836	0.974000	0.42286	0.948000	0.59901	2.985000	0.49362	2.706000	0.92434	0.655000	0.94253	GTG		0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	13	0	0	0	1	0	7	13				
CEP350	9857	broad.mit.edu	37	1	179990054	179990054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179990054C>T	ENST00000367607.3	+	12	3563	c.3145C>T	c.(3145-3147)Caa>Taa	p.Q1049*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1049					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGTGGTACACAAAGCAAAGG	0.368																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3145-3147)Caa>Taa		centrosomal protein 350kDa							20.0	21.0	21.0					1																	179990054		2178	4242	6420	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:179990054C>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3145C>T	1.37:g.179990054C>T	ENSP00000356579:p.Gln1049*						p.Q1049*	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			12	3563	+			1049					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.3145C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	40	8.158561	0.98683	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.9	2.94	0.34122	.	0.153350	0.30374	N	0.009761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0697	0.42325	0.0:0.53:0.3994:0.0706	.	.	.	.	X	1049	.	.	Q	+	1	0	CEP350	178256677	0.666000	0.27475	0.734000	0.30879	0.228000	0.25075	1.068000	0.30629	0.366000	0.24427	-0.175000	0.13238	CAA		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	8	0	0	0	1	0	5	8				
CACNA2D4	93589	broad.mit.edu	37	12	1995182	1995182	+	Silent	SNP	G	G	A	rs182502291		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1995182G>A	ENST00000382722.5	-	9	1379	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	CACNA2D4_ENST00000587995.1_Silent_p.I339I|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Silent_p.I275I|CACNA2D4_ENST00000588077.1_Silent_p.I275I|CACNA2D4_ENST00000586184.1_Silent_p.I339I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AACAAGGCTCGATGTAATGGA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		20860	0.001		0.0	False		,,,				2504	0.0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1015-1017)atC>atT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							62.0	65.0	64.0					12																	1995182		2053	4187	6240	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995182G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1017C>T	12.37:g.1995182G>A						CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Silent_p.I339I|CACNA2D4_ENST00000588077.1_Silent_p.I275I|CACNA2D4_ENST00000585708.1_Silent_p.I275I|CACNA2D4_ENST00000586184.1_Silent_p.I339I	p.I339I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	9	1379	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	339			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1017C>T	CCDS44785.1																																																																																				0.542	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			7	15	0	0	0	1	0	7	15				
SCN8A	6334	broad.mit.edu	37	12	52056609	52056609	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52056609C>T	ENST00000354534.6	+	2	186	c.8C>T	c.(7-9)gCg>gTg	p.A3V	SCN8A_ENST00000545061.1_Missense_Mutation_p.A3V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A3V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	3					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AAGATGGCAGCGCGGCTGCTT	0.517																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(7-9)gCg>gTg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						100.0	100.0	100.0					12																	52056609		2046	4210	6256	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52056609C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.8C>T	12.37:g.52056609C>T	ENSP00000346534:p.Ala3Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.A3V|SCN8A_ENST00000550891.1_Missense_Mutation_p.A3V	p.A3V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	2	186	+			3					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.8C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488132	0.84854	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.96716	-4.08;-4.1;-4.1;-3.96	4.97	4.07	0.47477	.	.	.	.	.	D	0.91962	0.7454	L	0.37630	1.12	0.80722	D	1	P	0.44816	0.844	B	0.32342	0.144	D	0.91903	0.5533	9	0.54805	T	0.06	.	14.967	0.71201	0.0:0.7295:0.2705:0.0	.	3	Q9UQD0	SCN8A_HUMAN	V	3	ENSP00000448415:A3V;ENSP00000346534:A3V;ENSP00000440360:A3V;ENSP00000347255:A3V	ENSP00000346534:A3V	A	+	2	0	SCN8A	50342876	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	2.566000	0.45948	1.442000	0.47568	0.655000	0.94253	GCG		0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		16	79	0	0	0	1	0	16	79				
NCLN	56926	broad.mit.edu	37	19	3192474	3192474	+	Missense_Mutation	SNP	G	G	A	rs370383654		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3192474G>A	ENST00000246117.4	+	2	622	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	64					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGCACACGGAATGCAGTG	0.697																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(190-192)cGg>cAg		nicalin							13.0	14.0	13.0					19																	3192474		2171	4239	6410	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192474G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.191G>A	19.37:g.3192474G>A	ENSP00000246117:p.Arg64Gln					NCLN_ENST00000590671.1_5'UTR	p.R64Q	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	622	+		Hepatocellular(1079;0.137)	64					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.191G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812201	0.70797	.	.	ENSG00000125912	ENST00000246117	T	0.41758	0.99	4.38	4.38	0.52667	.	0.096714	0.56097	D	0.000030	T	0.66307	0.2776	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70328	-0.4902	10	0.44086	T	0.13	-7.1289	15.5394	0.76031	0.0:0.0:1.0:0.0	.	64	Q969V3	NCLN_HUMAN	Q	64	ENSP00000246117:R64Q	ENSP00000246117:R64Q	R	+	2	0	NCLN	3143474	1.000000	0.71417	0.876000	0.34364	0.010000	0.07245	9.272000	0.95707	1.992000	0.58205	0.555000	0.69702	CGG		0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		3	6	0	0	0	1	0	3	6				
DLGAP1	9229	broad.mit.edu	37	18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	rs113585667		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:3879237C>T	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	278					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGACCAGGCGCTCTTCTTC	0.652																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(832-834)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 1							56.0	53.0	54.0					18																	3879237		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879237C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.832G>A	18.37:g.3879237C>T	ENSP00000316377:p.Ala278Thr					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1427	-		Colorectal(8;0.0257)	278					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.832G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212225	0.58452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.14022	2.54;2.54	5.51	4.58	0.56647	.	0.184023	0.49305	D	0.000142	T	0.07683	0.0193	N	0.14661	0.345	0.37849	D	0.929314	B;P;B	0.45240	0.205;0.854;0.033	B;B;B	0.37144	0.038;0.242;0.011	T	0.27123	-1.0083	10	0.39692	T	0.17	-24.3113	11.6909	0.51514	0.3485:0.6515:0.0:0.0	.	278;278;278	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	T	278	ENSP00000316377:A278T;ENSP00000445973:A278T	ENSP00000316377:A278T	A	-	1	0	DLGAP1	3869237	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.347000	0.73004	2.605000	0.88082	0.655000	0.94253	GCC		0.652	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			17	37	0	0	0	1	0	17	37				
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:56227286C>T	ENST00000341744.3	-	4	1006	c.687G>A	c.(685-687)ccG>ccA	p.P229P	PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(685-687)ccG>ccA		prostate transmembrane protein, androgen induced 1							13.0	16.0	15.0					20																	56227286		2193	4289	6482	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227286C>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.687G>A	20.37:g.56227286C>T						PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P	p.P229P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	1006	-			229					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.687G>A	CCDS13463.1																																																																																				0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		10	10	0	0	0	1	0	10	10				
DOCK5	80005	broad.mit.edu	37	8	25216578	25216578	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e28+1		dedicator of cytokinesis 5							238.0	209.0	219.0					8																	25216578		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25216578G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2949+1G>A	8.37:g.25216578G>A								NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	28	2993	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)						B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Splice_Site	SNP	ENST00000276440.7	37		CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643231	0.87859	.	.	ENSG00000147459	ENST00000276440;ENST00000444569	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK5	25272495	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	9.845000	0.99498	2.826000	0.97356	0.655000	0.94253	.		0.458	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Intron	12	64	0	0	0	1	0	12	64				
PLCL1	5334	broad.mit.edu	37	2	198950184	198950184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:198950184G>A	ENST00000428675.1	+	2	2341	c.1943G>A	c.(1942-1944)aGg>aAg	p.R648K	PLCL1_ENST00000437704.2_Missense_Mutation_p.R550K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	648	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTGCCATGAGGATCGATTCC	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1942-1944)aGg>aAg		phospholipase C-like 1	Quinacrine(DB01103)						40.0	43.0	42.0					2																	198950184		2203	4299	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950184G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1943G>A	2.37:g.198950184G>A	ENSP00000402861:p.Arg648Lys					PLCL1_ENST00000437704.2_Missense_Mutation_p.R550K	p.R648K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2341	+			648			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1943G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650725	0.67472	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	D;D	0.82433	-1.61;-1.61	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.075672	0.56097	D	0.000030	D	0.92635	0.7660	M	0.90483	3.12	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67382	0.951;0.951	D	0.93307	0.6681	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	648;574	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	648;550	ENSP00000402861:R648K;ENSP00000414138:R550K	.	R	+	2	0	PLCL1	198658429	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	AGG		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	22	0	0	0	1	0	20	22				
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000479765.1_Silent_p.L429L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(262-264)ctC>ctA		WD repeat domain 49							61.0	58.0	59.0					3																	167293928		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167293928G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.264C>A	3.37:g.167293928G>T						WDR49_ENST00000479765.1_Silent_p.L429L|WDR49_ENST00000453925.2_Silent_p.L141L	p.L88L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			4	569	-			88					Q8N297	Silent	SNP	ENST00000308378.3	37	c.264C>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551242	0.13374	.	.	ENSG00000174776	ENST00000472600	.	.	.	5.76	4.89	0.63831	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63120	-0.6708	4	.	.	.	.	12.858	0.57897	0.0757:0.0:0.9243:0.0	.	.	.	.	Y	153	.	.	S	-	2	0	WDR49	168776622	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.848000	0.39309	1.472000	0.48140	0.650000	0.86243	TCT		0.388	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		9	16	1	0	2.17888e-05	1	2.24846e-05	9	16				
ATP1B2	482	broad.mit.edu	37	17	7559184	7559184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7559184G>A	ENST00000250111.4	+	7	1251	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	282	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CGGCCGCGTGGCCTTCAAACT	0.587																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(844-846)Gcc>Acc		ATPase, Na+/K+ transporting, beta 2 polypeptide							65.0	58.0	60.0					17																	7559184		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7559184G>A	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.844G>A	17.37:g.7559184G>A	ENSP00000250111:p.Ala282Thr						p.A282T	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	7	1251	+		all_cancers(10;0.000178)|Prostate(122;0.081)	282					A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.844G>A	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	4.340	0.062469	0.08388	.	.	ENSG00000129244	ENST00000250111	T	0.30182	1.54	4.67	3.68	0.42216	.	0.060946	0.64402	D	0.000003	T	0.15349	0.0370	N	0.12920	0.275	0.39447	D	0.967346	B	0.25772	0.134	B	0.24848	0.056	T	0.07065	-1.0792	10	0.08599	T	0.76	-9.4228	9.8607	0.41112	0.0:0.0:0.6271:0.3729	.	282	P14415	AT1B2_HUMAN	T	282	ENSP00000250111:A282T	ENSP00000250111:A282T	A	+	1	0	ATP1B2	7499909	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	4.285000	0.58989	1.161000	0.42604	0.313000	0.20887	GCC		0.587	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		7	15	0	0	0	1	0	7	15				
DDI1	414301	broad.mit.edu	37	11	103908404	103908404	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:103908404G>A	ENST00000302259.3	+	1	1097	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	285							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGGACCGACGGTGGGCTGGG	0.512																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(853-855)cGg>cAg		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							104.0	98.0	100.0					11																	103908404		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908404G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.854G>A	11.37:g.103908404G>A	ENSP00000302805:p.Arg285Gln					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.R285Q	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1097	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	285					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.854G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489586	0.64074	.	.	ENSG00000170967	ENST00000302259	T	0.54479	0.57	5.21	4.3	0.51218	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.93720	3.45	0.21719	N	0.999578	D	0.89917	1.0	D	0.85130	0.997	T	0.72659	-0.4226	10	0.87932	D	0	-11.3261	12.2687	0.54693	0.0827:0.0:0.9173:0.0	.	285	Q8WTU0	DDI1_HUMAN	Q	285	ENSP00000302805:R285Q	ENSP00000302805:R285Q	R	+	2	0	DDI1	103413614	0.999000	0.42202	0.003000	0.11579	0.431000	0.31685	8.821000	0.92009	1.569000	0.49696	0.655000	0.94253	CGG		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		25	45	0	0	0	1	0	25	45				
TNS3	64759	broad.mit.edu	37	7	47344500	47344500	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:47344500G>C	ENST00000398879.1	-	21	3118	c.2752C>G	c.(2752-2754)Ccc>Gcc	p.P918A	TNS3_ENST00000355730.3_Missense_Mutation_p.P678A|TNS3_ENST00000311160.9_Missense_Mutation_p.P918A			Q68CZ2	TENS3_HUMAN	tensin 3	918					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGAAAGGAGGGCGTCGAGGAC	0.572																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2752-2754)Ccc>Gcc		tensin 3							69.0	78.0	75.0					7																	47344500		2116	4248	6364	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47344500G>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2752C>G	7.37:g.47344500G>C	ENSP00000381854:p.Pro918Ala					TNS3_ENST00000311160.9_Missense_Mutation_p.P918A|TNS3_ENST00000355730.3_Missense_Mutation_p.P678A	p.P918A			Q68CZ2	TENS3_HUMAN			21	3118	-			918					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2752C>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	3.072	-0.190979	0.06299	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93712	-2.81;-2.81;-3.27;-2.97	5.7	1.77	0.24775	.	0.390514	0.26227	N	0.025589	D	0.84897	0.5574	L	0.36672	1.1	0.25087	N	0.990889	P	0.34864	0.473	B	0.28553	0.091	T	0.75986	-0.3124	10	0.49607	T	0.09	-13.1487	2.5985	0.04860	0.1631:0.1465:0.5391:0.1514	.	918	Q68CZ2	TENS3_HUMAN	A	918;1028;918;678;374;1021	ENSP00000312143:P918A;ENSP00000381854:P918A;ENSP00000347968:P678A;ENSP00000414358:P1021A	ENSP00000312143:P918A	P	-	1	0	TNS3	47311025	0.992000	0.36948	0.005000	0.12908	0.002000	0.02628	2.265000	0.43311	0.042000	0.15717	-0.895000	0.02911	CCC		0.572	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		7	14	0	0	0	1	0	7	14				
ITGB7	3695	broad.mit.edu	37	12	53586194	53586194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53586194G>A	ENST00000267082.5	-	14	2306	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	ITGB7_ENST00000338737.4_Missense_Mutation_p.T544I|ITGB7_ENST00000422257.3_Missense_Mutation_p.T692I|ITGB7_ENST00000550743.2_Missense_Mutation_p.T544I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	692					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTGTCCAGGGTCCGCTCTTT	0.577																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2074-2076)aCc>aTc		integrin, beta 7							141.0	127.0	131.0					12																	53586194		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53586194G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2075C>T	12.37:g.53586194G>A	ENSP00000267082:p.Thr692Ile					ITGB7_ENST00000550743.2_Missense_Mutation_p.T544I|ITGB7_ENST00000422257.3_Missense_Mutation_p.T692I|ITGB7_ENST00000338737.4_Missense_Mutation_p.T544I	p.T692I	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			14	2306	-			692					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.2075C>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346552	0.41599	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.90444	-1.67;-1.67;-2.67	4.83	4.83	0.62350	Integrin beta subunit, tail (1);	0.000000	0.43919	D	0.000505	D	0.88890	0.6560	M	0.67953	2.075	0.24901	N	0.992105	P	0.39964	0.697	B	0.36030	0.216	D	0.84965	0.0879	10	0.56958	D	0.05	.	15.2499	0.73536	0.0:0.0:1.0:0.0	.	692	P26010	ITB7_HUMAN	I	692;692;544	ENSP00000408741:T692I;ENSP00000267082:T692I;ENSP00000345501:T544I	ENSP00000267082:T692I	T	-	2	0	ITGB7	51872461	0.851000	0.29673	0.681000	0.30009	0.420000	0.31355	2.526000	0.45607	2.420000	0.82092	0.561000	0.74099	ACC		0.577	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			24	46	0	0	0	1	0	24	46				
SERPINB5	5268	broad.mit.edu	37	18	61170612	61170612	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:61170612G>A	ENST00000382771.4	+	7	1077	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	262					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACTAATCCCAGCACCATGGCC	0.373																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(784-786)aGc>aAc		serpin peptidase inhibitor, clade B (ovalbumin), member 5							53.0	51.0	52.0					18																	61170612		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61170612G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.785G>A	18.37:g.61170612G>A	ENSP00000372221:p.Ser262Asn					SERPINB5_ENST00000464346.1_3'UTR	p.S262N	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			7	1077	+			262					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.785G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176395	0.94846	.	.	ENSG00000206075	ENST00000382771	D	0.84370	-1.84	5.95	5.95	0.96441	Serpin domain (3);	0.100486	0.64402	D	0.000001	D	0.88808	0.6537	L	0.48877	1.53	0.80722	D	1	P	0.49783	0.928	P	0.55112	0.769	D	0.88512	0.3090	10	0.62326	D	0.03	.	20.3886	0.98946	0.0:0.0:1.0:0.0	.	262	P36952	SPB5_HUMAN	N	262	ENSP00000372221:S262N	ENSP00000372221:S262N	S	+	2	0	SERPINB5	59321592	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.394000	0.66285	2.824000	0.97209	0.655000	0.94253	AGC		0.373	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		13	28	0	0	0	1	0	13	28				
PNPLA7	375775	broad.mit.edu	37	9	140391713	140391713	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140391713G>A	ENST00000277531.4	-	17	2050	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R228C|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R647C	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	622					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATCACAGAGCGCAGCCGGCCG	0.682																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1939-1941)Cgc>Tgc		patatin-like phospholipase domain containing 7							31.0	30.0	31.0					9																	140391713		2196	4290	6486	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140391713G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1864C>T	9.37:g.140391713G>A	ENSP00000277531:p.Arg622Cys					PNPLA7_ENST00000277531.4_Missense_Mutation_p.R622C|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R228C	p.R647C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2275	-	all_cancers(76;0.126)		622					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1939C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731111	0.69189	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	4.66	4.66	0.58398	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98768	1.0727	10	0.87932	D	0	-25.4943	16.8772	0.86055	0.0:0.0:1.0:0.0	.	647;622	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	C	228;622;647;622;613	ENSP00000360512:R228C;ENSP00000277531:R622C;ENSP00000384610:R647C;ENSP00000400582:R613C	ENSP00000277531:R622C	R	-	1	0	PNPLA7	139511534	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	9.384000	0.97219	2.308000	0.77769	0.561000	0.74099	CGC		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		3	8	0	0	0	1	0	3	8				
PPP2R2D	55844	broad.mit.edu	37	10	133769188	133769188	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:133769188C>T	ENST00000422256.2	+	8	883	c.398C>T	c.(397-399)gCg>gTg	p.A133V	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	0					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TTTTGAACAGCGCCATCATGA	0.602																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.e8-1		protein phosphatase 2, regulatory subunit B, delta							40.0	42.0	41.0					10																	133769188		2035	4206	6241	SO:0001630	splice_region_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769188C>T	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.398-1C>T	10.37:g.133769188C>T						PPP2R2D_ENST00000470416.1_3'UTR	p.A133_splice			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	8	883	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A8KAK0|Q5SQJ2|Q9P1Y7	Splice_Site	SNP	ENST00000422256.2	37	c.397_splice		.	.	.	.	.	.	.	.	.	.	c	12.71	2.021030	0.35606	.	.	ENSG00000175470	ENST00000422256	.	.	.	3.39	-6.78	0.01721	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.40194	-0.9576	4	.	.	.	.	15.2029	0.73153	0.0:0.6025:0.0:0.3975	.	.	.	.	V	133	.	.	A	+	2	0	PPP2R2D	133619178	0.714000	0.27936	0.010000	0.14722	0.005000	0.04900	-0.292000	0.08332	-1.566000	0.01673	-1.309000	0.01313	GCG		0.602	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461	Missense_Mutation	14	17	0	0	0	1	0	14	17				
ASCL4	121549	broad.mit.edu	37	12	108169471	108169471	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108169471C>T	ENST00000342331.4	+	1	1310	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	159					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						AAGGCCTCTTCGGCGCCTTCG	0.781																																					GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(478-480)tCg>tTg		achaete-scute family bHLH transcription factor 4							5.0	7.0	7.0					12																	108169471		1883	3934	5817	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169471C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.479C>T	12.37:g.108169471C>T	ENSP00000345420:p.Ser160Leu						p.S160L	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1310	+			159					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.479C>T	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088054	0.36855	.	.	ENSG00000187855	ENST00000342331	D	0.96992	-4.2	4.61	2.73	0.32206	.	0.503904	0.18407	N	0.142168	D	0.89543	0.6745	N	0.19112	0.55	0.28765	N	0.900669	B	0.22211	0.066	B	0.14023	0.01	T	0.81064	-0.1102	10	0.24483	T	0.36	-18.1015	5.872	0.18809	0.0:0.6532:0.1803:0.1665	.	159	Q6XD76	ASCL4_HUMAN	L	160	ENSP00000345420:S160L	ENSP00000345420:S160L	S	+	2	0	ASCL4	106693601	0.951000	0.32395	0.956000	0.39512	0.238000	0.25445	1.749000	0.38319	1.043000	0.40175	0.491000	0.48974	TCG		0.781	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		4	8	0	0	0	1	0	4	8				
HEG1	57493	broad.mit.edu	37	3	124731627	124731627	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124731627G>A	ENST00000311127.4	-	6	2863	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	932					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)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGCTGTAACGCCAAGCTTTG	0.502																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(2794-2796)ggC>ggT		heart development protein with EGF-like domains 1							179.0	193.0	188.0					3																	124731627		2052	4194	6246	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731627G>A	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.2796C>T	3.37:g.124731627G>A							p.G932G	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			6	2863	-			932					Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.2796C>T	CCDS46898.1																																																																																				0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		6	26	0	0	0	1	0	6	26				
CARKD	55739	broad.mit.edu	37	13	111279791	111279791	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111279791G>A	ENST00000309957.2	+	5	406	c.392G>A	c.(391-393)aGc>aAc	p.S131N	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Missense_Mutation_p.S21N|CARKD_ENST00000397191.4_Missense_Mutation_p.S68N|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TTTAGTGACAGCCCCAATGCT	0.443																																						ENST00000309957.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(391-393)aGc>aAc		carbohydrate kinase domain containing							117.0	98.0	105.0					13																	111279791		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111279791G>A	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.392G>A	13.37:g.111279791G>A	ENSP00000311984:p.Ser131Asn					CARKD_ENST00000424185.2_Missense_Mutation_p.S21N|CARKD_ENST00000397191.4_Missense_Mutation_p.S68N|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron	p.S131N	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN			5	406	+			131			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.392G>A	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149173	0.37923	.	.	ENSG00000213995	ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T	0.23552	1.92;1.9;2.0	5.13	4.29	0.51040	Uncharacterised domain, carbohydrate kinase-related (3);	0.187213	0.56097	N	0.000029	T	0.37812	0.1017	M	0.62723	1.935	0.42411	D	0.9926	B;B;P;B;B	0.48998	0.099;0.202;0.918;0.257;0.129	B;B;P;B;B	0.54856	0.107;0.091;0.762;0.146;0.063	T	0.14420	-1.0473	10	0.49607	T	0.09	-25.8531	9.0633	0.36447	0.1711:0.0:0.8289:0.0	.	21;113;68;131;131	Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	N	21;113;68;131	ENSP00000413191:S21N;ENSP00000380375:S68N;ENSP00000311984:S131N	ENSP00000311984:S131N	S	+	2	0	CARKD	110077792	1.000000	0.71417	0.914000	0.36105	0.027000	0.11550	4.977000	0.63792	1.150000	0.42419	-0.258000	0.10820	AGC		0.443	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		32	53	0	0	0	1	0	32	53				
GPR35	2859	broad.mit.edu	37	2	241555812	241555812	+	5'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241555812G>A	ENST00000319838.5	+	0	374				GPR35_ENST00000403859.1_5'UTR|CAPN10_ENST00000270364.7_Missense_Mutation_p.C94Y|GPR35_ENST00000438013.2_5'UTR	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TAGGTCTCttgccctgtgcag	0.582																																						ENST00000270364.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(280-282)tGc>tAc		calpain 10							189.0	205.0	200.0					2																	241555812		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241555812G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.-569G>A	2.37:g.241555812G>A						GPR35_ENST00000319838.5_5'UTR|GPR35_ENST00000403859.1_5'UTR|GPR35_ENST00000438013.2_5'UTR	p.C94Y			Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	3	421	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	94			Calpain catalytic.		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.281G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	2.304	-0.359543	0.05138	.	.	ENSG00000142330	ENST00000270364	T	0.39056	1.1	0.199	0.199	0.15175	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.27264	0.173	B	0.08055	0.003	T	0.21177	-1.0253	7	0.87932	D	0	.	.	.	.	.	94	Q9HC96-7	.	Y	94	ENSP00000270364:C94Y	ENSP00000270364:C94Y	C	+	2	0	CAPN10	241204485	0.010000	0.17322	0.023000	0.16930	0.023000	0.10783	0.655000	0.24933	0.300000	0.22699	0.306000	0.20318	TGC		0.582	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		92	148	0	0	0	1	0	92	148				
ZKSCAN8	7745	broad.mit.edu	37	6	28116402	28116402	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:28116402C>T	ENST00000330236.6	+	2	401	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R73W	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	73	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GATCCAACTACGGGCCCTTTG	0.552																																						ENST00000330236.6																			0											c.(217-219)Cgg>Tgg		zinc finger with KRAB and SCAN domains 8							88.0	82.0	84.0					6																	28116402		2203	4300	6503	SO:0001583	missense	0							g.chr6:28116402C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.217C>T	6.37:g.28116402C>T	ENSP00000332750:p.Arg73Trp					ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.R73W	p.R73W	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					2	401	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.217C>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660688	0.88154	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.05447	3.44;3.44;3.44	5.13	5.13	0.70059	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46758	D	0.000278	T	0.12008	0.0292	L	0.41710	1.295	0.44061	D	0.9968	D	0.89917	1.0	D	0.87578	0.998	T	0.01578	-1.1320	10	0.62326	D	0.03	.	16.3626	0.83275	0.0:1.0:0.0:0.0	.	73	Q15776	ZN192_HUMAN	W	73	ENSP00000332750:R73W;ENSP00000402948:R73W;ENSP00000439117:R73W	ENSP00000332750:R73W	R	+	1	2	ZNF192	28224381	0.634000	0.27190	1.000000	0.80357	0.977000	0.68977	2.324000	0.43831	2.771000	0.95319	0.563000	0.77884	CGG		0.552	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			18	31	0	0	0	1	0	18	31				
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114112358G>A	ENST00000478244.1	-	7	1048	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.R123C	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256										breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(367-369)Cgc>Tgc		DCN1, defective in cullin neddylation 1, domain containing 2							233.0	239.0	237.0					13																	114112358		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114112358G>A	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.766C>T	13.37:g.114112358G>A	ENSP00000417706:p.Arg256Cys		OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C	p.R123C			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		5	401	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	256			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.367C>T	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350226	0.41599	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.79	2.07	0.26955	.	0.053400	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.29081	N	0.882718	D	0.56287	0.975	P	0.46339	0.513	T	0.09250	-1.0683	9	0.59425	D	0.04	.	6.2333	0.20747	0.0737:0.1391:0.6531:0.1341	.	256	Q6PH85	DCNL2_HUMAN	C	123;256	.	ENSP00000330629:R123C	R	-	1	0	DCUN1D2	113160359	1.000000	0.71417	0.000000	0.03702	0.011000	0.07611	7.020000	0.76419	0.098000	0.17522	-0.181000	0.13052	CGC		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		32	242	0	0	0	1	0	32	242				
INPP5D	3635	broad.mit.edu	37	2	233990468	233990468	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233990468G>A	ENST00000359570.5	+	4	363	c.363G>A	c.(361-363)gtG>gtA	p.V121V	INPP5D_ENST00000538935.1_Silent_p.V121V|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAAGTGTCGTGTCTCCACCCG	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(361-363)gtG>gtA		inositol polyphosphate-5-phosphatase, 145kDa							32.0	37.0	35.0					2																	233990468		2183	4286	6469	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990468G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.363G>A	2.37:g.233990468G>A						INPP5D_ENST00000538935.1_Silent_p.V121V|INPP5D_ENST00000474278.1_3'UTR	p.V121V			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	363	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	121					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.363G>A																																																																																					0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		3	7	0	0	0	1	0	3	7				
HRNR	388697	broad.mit.edu	37	1	152192191	152192191	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:152192191C>G	ENST00000368801.2	-	3	1989	c.1914G>C	c.(1912-1914)caG>caC	p.Q638H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	638					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGCCATGCTGACCGTGGC	0.567																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1912-1914)caG>caC		hornerin							231.0	226.0	228.0					1																	152192191		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192191C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1914G>C	1.37:g.152192191C>G	ENSP00000357791:p.Gln638His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q638H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1989	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		638					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1914G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.126	0.208772	0.09757	.	.	ENSG00000197915	ENST00000368801	T	0.05258	3.47	4.03	-8.06	0.01102	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.48625	-0.9019	9	0.40728	T	0.16	.	4.0782	0.09914	0.1018:0.1829:0.0944:0.6208	.	638	Q86YZ3	HORN_HUMAN	H	638	ENSP00000357791:Q638H	ENSP00000357791:Q638H	Q	-	3	2	HRNR	150458815	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.906000	0.01590	-1.673000	0.01462	-0.852000	0.03032	CAG		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		36	161	0	0	0	1	0	36	161				
TBC1D5	9779	broad.mit.edu	37	3	17447938	17447938	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:17447938C>T	ENST00000253692.7	-	5	1912	c.248G>A	c.(247-249)aGc>aAc	p.S83N	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S35N|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S83N|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S83N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	83	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GAACCTGCTGCTTCTCAGCTG	0.383																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(247-249)aGc>aAc		TBC1 domain family, member 5							180.0	173.0	175.0					3																	17447938		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17447938C>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.248G>A	3.37:g.17447938C>T	ENSP00000253692:p.Ser83Asn					TBC1D5_ENST00000429383.4_Missense_Mutation_p.S83N|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S83N|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S35N	p.S83N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			5	1912	-			83			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.248G>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477743	0.63849	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877	T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.31	4.41	0.53225	Rab-GAP/TBC domain (3);	0.072660	0.85682	D	0.000000	T	0.40619	0.1124	M	0.62723	1.935	0.80722	D	1	B;D;D	0.53745	0.034;0.962;0.962	B;P;P	0.60415	0.076;0.822;0.874	T	0.24835	-1.0149	10	0.46703	T	0.11	-19.4049	16.023	0.80512	0.0:0.8652:0.1348:0.0	.	35;83;83	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	N	83;83;83;35;83;83;83;83;83;83	ENSP00000253692:S83N;ENSP00000398127:S83N;ENSP00000402935:S83N;ENSP00000411925:S35N;ENSP00000396239:S83N;ENSP00000387395:S83N;ENSP00000399967:S83N;ENSP00000410596:S83N;ENSP00000393882:S83N;ENSP00000424998:S83N	ENSP00000253692:S83N	S	-	2	0	TBC1D5	17422942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.939000	0.75911	1.299000	0.44798	0.655000	0.94253	AGC		0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		10	71	0	0	0	1	0	10	71				
KCTD18	130535	broad.mit.edu	37	2	201354980	201354980	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201354980C>T	ENST00000359878.3	-	7	1634	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R375Q|KCTD18_ENST00000468413.1_5'Flank	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	375					protein homooligomerization (GO:0051260)			p.R375L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CTTTATCACCCGCTGGGGTGT	0.647																																						ENST00000359878.3																			1	Substitution - Missense(1)	p.R375L(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1123-1125)cGg>cAg		potassium channel tetramerization domain containing 18							82.0	81.0	81.0					2																	201354980		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354980C>T	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1124G>A	2.37:g.201354980C>T	ENSP00000352941:p.Arg375Gln					KCTD18_ENST00000409157.1_Missense_Mutation_p.R375Q	p.R375Q	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1634	-			375					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1124G>A	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821269	0.90873	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.41758	0.99;0.99	4.88	4.88	0.63580	.	0.000000	0.49916	D	0.000139	T	0.54319	0.1851	L	0.32530	0.975	0.37150	D	0.902106	D	0.89917	1.0	D	0.85130	0.997	T	0.62798	-0.6778	10	0.87932	D	0	-11.2607	15.981	0.80111	0.0:1.0:0.0:0.0	.	375	Q6PI47	KCD18_HUMAN	Q	375	ENSP00000352941:R375Q;ENSP00000386751:R375Q	ENSP00000352941:R375Q	R	-	2	0	KCTD18	201063225	0.026000	0.19158	0.216000	0.23742	0.021000	0.10359	1.849000	0.39318	2.531000	0.85337	0.655000	0.94253	CGG		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		21	25	0	0	0	1	0	21	25				
DGCR8	54487	broad.mit.edu	37	22	20078990	20078990	+	Missense_Mutation	SNP	C	C	T	rs369018600		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20078990C>T	ENST00000351989.3	+	6	1768	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	DGCR8_ENST00000383024.2_Missense_Mutation_p.R447C|DGCR8_ENST00000407755.1_Missense_Mutation_p.R447C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	447	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCTGGAGAAGCGTTTTGACTT	0.473																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1339-1341)Cgt>Tgt		DGCR8 microprocessor complex subunit							123.0	135.0	131.0					22																	20078990		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20078990C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1339C>T	22.37:g.20078990C>T	ENSP00000263209:p.Arg447Cys					DGCR8_ENST00000383024.2_Missense_Mutation_p.R447C|DGCR8_ENST00000407755.1_Missense_Mutation_p.R447C	p.R447C	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			6	1768	+	Colorectal(54;0.0993)		447			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1339C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651869	0.47362	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.32988	1.45;1.43;1.43	4.77	4.77	0.60923	.	0.049930	0.85682	D	0.000000	T	0.21962	0.0529	N	0.21448	0.665	0.80722	D	1	B;B	0.18968	0.009;0.032	B;B	0.12156	0.007;0.004	T	0.03969	-1.0988	10	0.54805	T	0.06	-9.664	12.6525	0.56770	0.1653:0.8347:0.0:0.0	.	447;447	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	447	ENSP00000263209:R447C;ENSP00000372488:R447C;ENSP00000384726:R447C	ENSP00000263209:R447C	R	+	1	0	DGCR8	18458990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.302000	0.59092	2.472000	0.83506	0.591000	0.81541	CGT		0.473	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			51	78	0	0	0	1	0	51	78				
DDX23	9416	broad.mit.edu	37	12	49237828	49237828	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49237828C>T	ENST00000308025.3	-	3	294	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	72	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTTGTGCCGTCGTTCTCTGGA	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(214-216)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							299.0	250.0	266.0					12																	49237828		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237828C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.215G>A	12.37:g.49237828C>T	ENSP00000310723:p.Arg72Gln					DDX23_ENST00000553182.1_5'UTR	p.R72Q	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	294	-			72			Arg-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.215G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636559	0.87760	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21191	2.02	5.35	5.35	0.76521	.	0.075645	0.53938	D	0.000059	T	0.33206	0.0855	L	0.41492	1.28	0.49389	D	0.999786	D	0.58620	0.983	P	0.61201	0.885	T	0.01309	-1.1389	10	0.21014	T	0.42	-0.0488	16.0486	0.80740	0.0:1.0:0.0:0.0	.	72	Q9BUQ8	DDX23_HUMAN	Q	72	ENSP00000310723:R72Q	ENSP00000310723:R72Q	R	-	2	0	DDX23	47524095	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.965000	0.70387	2.522000	0.85027	0.586000	0.80456	CGA		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		56	79	0	0	0	1	0	56	79				
NUP210	23225	broad.mit.edu	37	3	13413477	13413477	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13413477C>T	ENST00000254508.5	-	13	1725	c.1643G>A	c.(1642-1644)cGt>cAt	p.R548H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	548					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGGCCCACACGTGCCTCCAC	0.652																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1642-1644)cGt>cAt		nucleoporin 210kDa							27.0	22.0	24.0					3																	13413477		2202	4300	6502	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13413477C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1643G>A	3.37:g.13413477C>T	ENSP00000254508:p.Arg548His						p.R548H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			13	1725	-	all_neural(104;0.187)		548					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.1643G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637705	0.29157	.	.	ENSG00000132182	ENST00000254508	T	0.05025	3.51	5.86	3.1	0.35709	.	0.120350	0.53938	D	0.000043	T	0.07324	0.0185	M	0.72479	2.2	0.19300	N	0.99998	B;B	0.34255	0.445;0.179	B;B	0.25140	0.058;0.019	T	0.25293	-1.0136	10	0.45353	T	0.12	-1.7756	7.4716	0.27353	0.0:0.6397:0.1153:0.245	.	548;548	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	H	548	ENSP00000254508:R548H	ENSP00000254508:R548H	R	-	2	0	NUP210	13388477	0.779000	0.28652	0.001000	0.08648	0.587000	0.36485	2.082000	0.41605	0.383000	0.24910	0.655000	0.94253	CGT		0.652	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	2	0	0	0	1	0	3	2				
ZNF763	284390	broad.mit.edu	37	19	12089672	12089672	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12089672C>A	ENST00000358987.3	+	4	1060	c.933C>A	c.(931-933)ccC>ccA	p.P311P	ZNF763_ENST00000538752.1_Silent_p.P331P|ZNF763_ENST00000545530.1_Silent_p.P189P|ZNF763_ENST00000590798.1_Silent_p.P331P|ZNF763_ENST00000343949.5_Silent_p.P314P			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GGGAGAAGCCCTGTGAATGTA	0.403																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(940-942)ccC>ccA		zinc finger protein 763							60.0	64.0	62.0					19																	12089672		2197	4295	6492	SO:0001819	synonymous_variant	284390							g.chr19:12089672C>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.933C>A	19.37:g.12089672C>A						ZNF763_ENST00000545530.1_Silent_p.P189P|ZNF763_ENST00000358987.3_Silent_p.P311P|ZNF763_ENST00000590798.1_Silent_p.P331P|ZNF763_ENST00000538752.1_Silent_p.P331P	p.P314P	NM_001012753.1	NP_001012771.1					4	1097	+								B3KRU3|B4DRE7	Silent	SNP	ENST00000358987.3	37	c.942C>A																																																																																					0.403	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		12	28	1	0	7.93312e-07	1	8.27737e-07	12	28				
CCDC130	81576	broad.mit.edu	37	19	13869945	13869945	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13869945C>T	ENST00000586600.1	+	9	935	c.432C>T	c.(430-432)gaC>gaT	p.D144D	CCDC130_ENST00000221554.8_Silent_p.D144D|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	144					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TGGAGACGGACGCCATGTTCC	0.662																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(430-432)gaC>gaT		coiled-coil domain containing 130							30.0	30.0	30.0					19																	13869945		2203	4298	6501	SO:0001819	synonymous_variant	81576				response to virus		protein binding	g.chr19:13869945C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.432C>T	19.37:g.13869945C>T						CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Silent_p.D144D	p.D144D			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		9	935	+			144					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.432C>T	CCDS12296.1																																																																																				0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		4	14	0	0	0	1	0	4	14				
ILVBL	10994	broad.mit.edu	37	19	15234345	15234345	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15234345C>T	ENST00000263383.3	-	3	317	c.178G>A	c.(178-180)Gct>Act	p.A60T	ILVBL_ENST00000534378.1_5'UTR|AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	60						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CTCAGCACAGCGGCCACGTTC	0.627																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(178-180)Gct>Act		ilvB (bacterial acetolactate synthase)-like							96.0	81.0	86.0					19																	15234345		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234345C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.178G>A	19.37:g.15234345C>T	ENSP00000263383:p.Ala60Thr					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_5'UTR	p.A60T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			3	317	-			60					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.178G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625214	0.14257	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.31247	1.5	4.19	1.9	0.25705	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.311169	0.33834	N	0.004519	T	0.28566	0.0707	L	0.53617	1.68	0.21445	N	0.999684	P	0.43607	0.812	P	0.46659	0.523	T	0.06127	-1.0844	10	0.33141	T	0.24	-12.8207	3.9505	0.09368	0.1871:0.6048:0.0:0.2081	.	60	A1L0T0	ILVBL_HUMAN	T	60	ENSP00000263383:A60T	ENSP00000263383:A60T	A	-	1	0	ILVBL	15095345	0.857000	0.29778	0.618000	0.29105	0.027000	0.11550	2.387000	0.44389	0.756000	0.33013	-0.448000	0.05591	GCT		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		8	28	0	0	0	1	0	8	28				
FRS3	10817	broad.mit.edu	37	6	41738655	41738655	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41738655C>T	ENST00000373018.3	-	7	1432	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	FRS3_ENST00000259748.2_Missense_Mutation_p.R394H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	394					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGAGCCGCGGCGGCGGGT	0.667																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1180-1182)cGc>cAc		fibroblast growth factor receptor substrate 3							24.0	31.0	28.0					6																	41738655		2191	4270	6461	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738655C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1181G>A	6.37:g.41738655C>T	ENSP00000362109:p.Arg394His					FRS3_ENST00000259748.2_Missense_Mutation_p.R394H	p.R394H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1432	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		394					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1181G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633513	0.67015	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.26518	1.73;1.73	5.41	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	L	0.55481	1.735	0.35371	D	0.789044	D	0.61697	0.99	P	0.49502	0.613	T	0.05289	-1.0894	10	0.66056	D	0.02	-25.844	15.2524	0.73559	0.0:0.8591:0.1409:0.0	.	394	O43559	FRS3_HUMAN	H	394	ENSP00000362109:R394H;ENSP00000259748:R394H	ENSP00000259748:R394H	R	-	2	0	FRS3	41846633	0.101000	0.21875	0.995000	0.50966	0.987000	0.75469	0.567000	0.23608	2.536000	0.85505	0.655000	0.94253	CGC		0.667	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		7	32	0	0	0	1	0	7	32				
FMN2	56776	broad.mit.edu	37	1	240370965	240370965	+	Silent	SNP	G	G	A	rs146070457	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240370965G>A	ENST00000319653.9	+	5	3083	c.2853G>A	c.(2851-2853)gcG>gcA	p.A951A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	951	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGCAATACCCC	0.697																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2851-2853)gcG>gcA		formin 2		G		0,4402		0,0,2201	24.0	28.0	27.0		2853	1.2	0.0	1	dbSNP_134	27	1,8593		0,1,4296	no	coding-synonymous	FMN2	NM_020066.4		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		951/1723	240370965	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370965G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2853G>A	1.37:g.240370965G>A							p.A951A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3083	+	Ovarian(103;0.127)	all_cancers(173;0.013)	951			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2853G>A	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	23	0	0	0	1	0	15	23				
GAREM	64762	broad.mit.edu	37	18	29867951	29867951	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29867951G>A	ENST00000269209.6	-	4	612	c.609C>T	c.(607-609)caC>caT	p.H203H	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Silent_p.H203H|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	203	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CGTTGGTCCGGTGATTCATAC	0.478																																						ENST00000399218.4																			0											c.(607-609)caC>caT		GRB2 associated, regulator of MAPK1							114.0	94.0	101.0					18																	29867951		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867951G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.609C>T	18.37:g.29867951G>A						GAREM_ENST00000269209.6_Silent_p.H203H|GAREM_ENST00000578619.1_5'UTR|RP11-344B2.2_ENST00000579580.1_RNA	p.H203H	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	664	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.609C>T	CCDS56057.1																																																																																				0.478	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		18	42	0	0	0	1	0	18	42				
MAST1	22983	broad.mit.edu	37	19	12979924	12979924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12979924C>T	ENST00000251472.4	+	22	2857	c.2818C>T	c.(2818-2820)Cga>Tga	p.R940*		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATGTCTCCACGATCTCTGTC	0.567																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2818-2820)Cga>Tga		microtubule associated serine/threonine kinase 1							144.0	102.0	116.0					19																	12979924		2203	4300	6503	SO:0001587	stop_gained	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12979924C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2818C>T	19.37:g.12979924C>T	ENSP00000251472:p.Arg940*						p.R940*	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			22	2857	+			940						Nonsense_Mutation	SNP	ENST00000251472.4	37	c.2818C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	42	9.243308	0.99111	.	.	ENSG00000105613	ENST00000251472	.	.	.	5.01	5.01	0.66863	.	0.145206	0.46758	D	0.000264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.1918	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	X	940	.	ENSP00000251472:R940X	R	+	1	2	MAST1	12840924	0.989000	0.36119	0.999000	0.59377	0.972000	0.66771	3.958000	0.56737	2.327000	0.79052	0.462000	0.41574	CGA		0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		13	32	0	0	0	1	0	13	32				
PCDH15	65217	broad.mit.edu	37	10	55591228	55591228	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:55591228C>T	ENST00000320301.6	-	30	4443	c.4049G>A	c.(4048-4050)cGc>cAc	p.R1350H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1357H|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1350					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1350H(2)|p.R1355H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCCAGAATGCGTCCTCCTTC	0.418										HNSCC(58;0.16)																												ENST00000373965.2																			4	Substitution - Missense(4)	p.R1350H(2)|p.R1355H(2)	endometrium(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4069-4071)cGc>cAc		protocadherin-related 15							174.0	155.0	162.0					10																	55591228		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591228C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4049G>A	10.37:g.55591228C>T	ENSP00000322604:p.Arg1350His	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1350H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961H|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279H|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350H|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313H	p.R1357H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4464	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1350					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4070G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032480	0.93575	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60171	0.37;0.43;0.35;0.36;0.32;0.26;0.21;0.29;0.22;0.23;0.22	5.75	5.75	0.90469	.	.	.	.	.	T	0.70090	0.3184	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.998;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999	T	0.71189	-0.4666	9	0.66056	D	0.02	.	19.539	0.95267	0.0:1.0:0.0:0.0	.	1328;1350;1350;1355;1279;1313;1350;1350;1357;1357;1350;1355;1350	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1357;1355;1350;1350;961;1357;1313;1350;1328;1350;1350;1355;1279	ENSP00000363076:R1357H;ENSP00000410304:R1355H;ENSP00000378826:R1350H;ENSP00000386693:R961H;ENSP00000378832:R1357H;ENSP00000378820:R1313H;ENSP00000354950:R1350H;ENSP00000378821:R1328H;ENSP00000322604:R1350H;ENSP00000378818:R1350H;ENSP00000412628:R1279H	ENSP00000322604:R1350H	R	-	2	0	PCDH15	55261234	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	7.814000	0.86154	2.709000	0.92574	0.585000	0.79938	CGC		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	51	0	0	0	1	0	23	51				
SEMA6A	57556	broad.mit.edu	37	5	115827438	115827438	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115827438G>A	ENST00000343348.6	-	7	1320	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A178V|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A178V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	178	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCGCTTACCTGCAAACAGTGC	0.458																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(532-534)gCa>gTa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							120.0	123.0	122.0					5																	115827438		2003	4172	6175	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115827438G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.533C>T	5.37:g.115827438G>A	ENSP00000345512:p.Ala178Val					CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A178V|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A178V|SEMA6A_ENST00000503962.1_5'UTR	p.A178V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	7	1320	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	178			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.533C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483124	0.96307	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.19938	2.11;2.11;2.11	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.044536	0.85682	D	0.000000	T	0.38665	0.1049	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.981	T	0.07849	-1.0751	10	0.87932	D	0	.	20.2672	0.98462	0.0:0.0:1.0:0.0	.	178;178	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	178	ENSP00000345512:A178V;ENSP00000257414:A178V;ENSP00000424388:A178V	ENSP00000257414:A178V	A	-	2	0	SEMA6A	115855337	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	GCA		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		37	57	0	0	0	1	0	37	57				
BRD3	8019	broad.mit.edu	37	9	136907070	136907070	+	Missense_Mutation	SNP	C	C	T	rs200921972		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136907070C>T	ENST00000303407.7	-	8	1404	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	BRD3_ENST00000357885.2_Missense_Mutation_p.V407M|BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000371834.2_Missense_Mutation_p.V407M	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	407					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATCTCAAACACGTCCTGCGGC	0.662			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1219-1221)Gtg>Atg		bromodomain containing 3							21.0	25.0	23.0					9																	136907070		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136907070C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1219G>A	9.37:g.136907070C>T	ENSP00000305918:p.Val407Met					BRD3_ENST00000357885.2_Missense_Mutation_p.V407M|BRD3_ENST00000371834.2_Missense_Mutation_p.V407M	p.V407M	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1404	-			407					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1219G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530873	0.64972	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.20332	2.08;2.08;2.08	4.99	4.99	0.66335	Bromodomain (3);	0.000000	0.64402	D	0.000005	T	0.54208	0.1844	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.69479	0.964;0.885	T	0.65837	-0.6071	10	0.87932	D	0	-17.642	17.2437	0.87021	0.0:1.0:0.0:0.0	.	407;407	Q15059-2;Q15059	.;BRD3_HUMAN	M	407;86;407;407	ENSP00000305918:V407M;ENSP00000360900:V407M;ENSP00000350557:V407M	ENSP00000305918:V407M	V	-	1	0	BRD3	135896891	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	4.674000	0.61612	2.305000	0.77605	0.462000	0.41574	GTG		0.662	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		3	15	0	0	0	1	0	3	15				
RPLP1	6176	broad.mit.edu	37	15	69747804	69747804	+	Silent	SNP	C	C	T	rs562950236		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69747804C>T	ENST00000260379.6	+	4	468	c.303C>T	c.(301-303)tcC>tcT	p.S101S	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Missense_Mutation_p.P37L|RPLP1_ENST00000357790.5_Silent_p.S76S	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						AAGAAGAATCCGAGGAGTCTG	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		19759	0.0		0.0	False		,,,				2504	0.001					ENST00000560274.1																			0				ovary(1)	1						c.(109-111)cCg>cTg		ribosomal protein, large, P1							54.0	51.0	52.0					15																	69747804		2199	4298	6497	SO:0001819	synonymous_variant	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69747804C>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"""L ribosomal proteins"""	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.303C>T	15.37:g.69747804C>T						RPLP1_ENST00000260379.6_Silent_p.S101S|RPLP1_ENST00000357790.5_Silent_p.S76S	p.P37L			P05386	RLA1_HUMAN			2	175	+			0					A6NIB2	Missense_Mutation	SNP	ENST00000260379.6	37	c.110C>T	CCDS10233.1																																																																																				0.353	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003		8	32	0	0	0	1	0	8	32				
LUM	4060	broad.mit.edu	37	12	91502031	91502031	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:91502031A>G	ENST00000266718.4	-	2	1180	c.726T>C	c.(724-726)gcT>gcC	p.A242A	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	242					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTCCACTATCAGCCAGTTCGT	0.393																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(724-726)gcT>gcC		lumican							155.0	147.0	150.0					12																	91502031		2203	4300	6503	SO:0001819	synonymous_variant	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502031A>G	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.726T>C	12.37:g.91502031A>G						LUM_ENST00000548071.1_5'UTR	p.A242A	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1180	-			242					B2R6R5|Q96QM7	Silent	SNP	ENST00000266718.4	37	c.726T>C	CCDS9038.1																																																																																				0.393	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		10	71	0	0	0	1	0	10	71				
PLK1	5347	broad.mit.edu	37	16	23700655	23700655	+	Missense_Mutation	SNP	G	G	A	rs199640055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23700655G>A	ENST00000300093.4	+	8	1478	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	456	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TACATAGAGCGTGACGGCACT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19199	0.001		0.0	False		,,,				2504	0.0				Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1366-1368)cGt>cAt		polo-like kinase 1							139.0	110.0	120.0					16																	23700655		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700655G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1367G>A	16.37:g.23700655G>A	ENSP00000300093:p.Arg456His						p.R456H	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	1478	+			456			POLO box 1.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1367G>A	CCDS10616.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.67	2.305648	0.40795	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.13901	2.55	5.3	2.22	0.28083	POLO box duplicated domain (2);	0.220156	0.44483	D	0.000453	T	0.16938	0.0407	L	0.54965	1.715	0.41641	D	0.989075	D	0.54601	0.967	P	0.48677	0.586	T	0.02059	-1.1221	10	0.72032	D	0.01	-10.0954	7.4488	0.27227	0.1363:0.1545:0.7092:0.0	.	456	P53350	PLK1_HUMAN	H	456;359	ENSP00000300093:R456H	ENSP00000300093:R456H	R	+	2	0	PLK1	23608156	1.000000	0.71417	0.850000	0.33497	0.021000	0.10359	3.657000	0.54474	1.224000	0.43551	-0.182000	0.12963	CGT		0.552	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		26	21	0	0	0	1	0	26	21				
PPP2R2A	5520	broad.mit.edu	37	8	26212039	26212039	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26212039G>A	ENST00000380737.3	+	4	565	c.236G>A	c.(235-237)aGc>aAc	p.S79N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	79					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ACCTTCCAGAGCCATGAACCA	0.323																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(235-237)aGc>aAc		protein phosphatase 2, regulatory subunit B, alpha							95.0	97.0	96.0					8																	26212039		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26212039G>A	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.236G>A	8.37:g.26212039G>A	ENSP00000370113:p.Ser79Asn					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89N	p.S79N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	565	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.236G>A	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422974	0.96111	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.68613	0.3020	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.75858	-0.3169	10	0.87932	D	0	-12.7173	20.4434	0.99119	0.0:0.0:1.0:0.0	.	89;79	B4E1T7;P63151	.;2ABA_HUMAN	N	79;89	ENSP00000370113:S79N;ENSP00000325074:S89N	ENSP00000325074:S89N	S	+	2	0	PPP2R2A	26267956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	AGC		0.323	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		4	73	0	0	0	1	0	4	73				
BRCA2	675	broad.mit.edu	37	13	32915317	32915317	+	Missense_Mutation	SNP	G	G	T	rs276174880		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:32915317G>T	ENST00000380152.3	+	11	7058	c.6825G>T	c.(6823-6825)gaG>gaT	p.E2275D	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2275D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2275			E -> G (in BC; unknown pathological significance). {ECO:0000269|PubMed:15026808}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGAGGAGAGCCCCTTATCT	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6823-6825)gaG>gaT	Homologous recombination	breast cancer 2, early onset							101.0	108.0	106.0					13																	32915317		2201	4300	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915317G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6825G>T	13.37:g.32915317G>T	ENSP00000369497:p.Glu2275Asp	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E2275D	p.E2275D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	7052	+		Lung SC(185;0.0262)	2275		E -> G (in BC; unknown pathological significance).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6825G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.815019	0.00600	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76968	-1.06;-1.06	5.71	-3.22	0.05125	.	0.926111	0.09226	N	0.831201	T	0.43344	0.1243	N	0.01705	-0.755	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33828	-0.9853	10	0.15952	T	0.53	.	3.463	0.07540	0.186:0.0861:0.4644:0.2634	.	2275	P51587	BRCA2_HUMAN	D	2275	ENSP00000369497:E2275D;ENSP00000439902:E2275D	ENSP00000369497:E2275D	E	+	3	2	BRCA2	31813317	0.000000	0.05858	0.008000	0.14137	0.148000	0.21650	-0.342000	0.07801	-0.138000	0.11434	-0.262000	0.10625	GAG		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		36	51	1	0	6.97489e-18	1	7.68957e-18	36	51				
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(667-669)Ctg>Atg		olfactory receptor, family 10, subfamily P, member 1							123.0	104.0	110.0					12																	56031342		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031342C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.667C>A	12.37:g.56031342C>A	ENSP00000308082:p.Leu223Met						p.L223M	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	699	+			223					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.667C>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.657	0.899701	0.17686	.	.	ENSG00000175398	ENST00000309675	T	0.00237	8.47	4.44	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	N	0.002009	T	0.00468	0.0015	M	0.86097	2.795	0.25970	N	0.982518	D	0.76494	0.999	D	0.75484	0.986	T	0.44205	-0.9343	10	0.72032	D	0.01	.	3.2804	0.06913	0.1783:0.5524:0.173:0.0963	.	223	Q8NGE3	O10P1_HUMAN	M	223	ENSP00000308082:L223M	ENSP00000308082:L223M	L	+	1	2	OR10P1	54317609	0.000000	0.05858	0.019000	0.16419	0.002000	0.02628	-1.227000	0.02950	0.598000	0.29829	-0.304000	0.09214	CTG		0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			12	50	1	0	1.08611e-07	1	1.14056e-07	12	50				
RHOBTB3	22836	broad.mit.edu	37	5	95091127	95091127	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:95091127C>T	ENST00000379982.3	+	6	1218	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	237					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGGCTGAAGCGTCACATTAT	0.353																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(709-711)gCg>gTg		Rho-related BTB domain containing 3							142.0	142.0	142.0					5																	95091127		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091127C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.710C>T	5.37:g.95091127C>T	ENSP00000369318:p.Ala237Val					GLRX_ENST00000508780.1_Intron	p.A237V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1218	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	237					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.710C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801935	0.70682	.	.	ENSG00000164292	ENST00000379982	T	0.71103	-0.54	5.78	5.78	0.91487	BTB/POZ fold (1);	0.103829	0.64402	D	0.000003	T	0.59197	0.2176	N	0.19112	0.55	0.80722	D	1	D	0.63046	0.992	B	0.41466	0.358	T	0.59129	-0.7512	10	0.29301	T	0.29	-18.7858	19.9704	0.97284	0.0:1.0:0.0:0.0	.	237	O94955	RHBT3_HUMAN	V	237	ENSP00000369318:A237V	ENSP00000369318:A237V	A	+	2	0	RHOBTB3	95116883	0.999000	0.42202	0.983000	0.44433	0.316000	0.28119	3.539000	0.53604	2.894000	0.99253	0.591000	0.81541	GCG		0.353	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		48	87	0	0	0	1	0	48	87				
ARHGEF1	9138	broad.mit.edu	37	19	42409371	42409371	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42409371C>T	ENST00000354532.3	+	24	2442	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P732L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P780L|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.P821L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P747L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	765					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGAAAGTCCCTGCCCCTGCC	0.672																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2461-2463)cCt>cTt		Rho guanine nucleotide exchange factor (GEF) 1							52.0	51.0	51.0					19																	42409371		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42409371C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2294C>T	19.37:g.42409371C>T	ENSP00000346532:p.Pro765Leu					ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P780L|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.P765L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P732L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P747L	p.P821L			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	25	2587	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	765					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2462C>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662499	0.67700	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.64803	0.02;0.04;0.02;-0.12	3.93	3.93	0.45458	.	0.094359	0.43579	D	0.000551	T	0.72803	0.3506	L	0.54323	1.7	0.51482	D	0.99992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.997;0.993	T	0.71167	-0.4672	10	0.32370	T	0.25	-9.2464	13.8408	0.63437	0.0:1.0:0.0:0.0	.	747;780;732;765	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	L	765;732;780;747	ENSP00000346532:P765L;ENSP00000344429:P732L;ENSP00000337261:P780L;ENSP00000367394:P747L	ENSP00000337261:P780L	P	+	2	0	ARHGEF1	47101211	0.624000	0.27102	0.997000	0.53966	0.878000	0.50629	1.514000	0.35834	1.917000	0.55516	0.555000	0.69702	CCT		0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		22	30	0	0	0	1	0	22	30				
ACE	1636	broad.mit.edu	37	17	61556409	61556409	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61556409C>T	ENST00000290866.4	+	3	483	c.459C>T	c.(457-459)acC>acT	p.T153T	ACE_ENST00000428043.1_Silent_p.T153T|ACE_ENST00000538928.1_Silent_p.T153T|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	153	Peptidase M2 1.				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)			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)	TCTACTCCACCGCCAAGGTCT	0.632											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290866.4																			0				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						c.(457-459)acC>acT		angiotensin I converting enzyme	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)						123.0	79.0	94.0					17																	61556409		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:61556409C>T	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.459C>T	17.37:g.61556409C>T			OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.T153T|ACE_ENST00000538928.1_Silent_p.T153T	p.T153T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			3	483	+			153			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.459C>T	CCDS11637.1																																																																																				0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			6	12	0	0	0	1	0	6	12				
ACSM3	6296	broad.mit.edu	37	16	20787371	20787371	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20787371G>T	ENST00000289416.5	+	3	905	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	ACSM3_ENST00000440284.2_Splice_Site_p.G144W|ACSM3_ENST00000450120.2_Splice_Site_p.G99W	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	144					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCTGCGAACAGGTTAGTAATG	0.438																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.e3+1		acyl-CoA synthetase medium-chain family member 3							61.0	60.0	60.0					16																	20787371		2201	4300	6501	SO:0001630	splice_region_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787371G>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.430+1G>T	16.37:g.20787371G>T						ACSM3_ENST00000450120.2_Splice_Site_p.G99_splice|ACSM3_ENST00000440284.2_Splice_Site_p.G144_splice	p.G144_splice	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			3	905	+			144					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Splice_Site	SNP	ENST00000289416.5	37	c.430_splice	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465363	0.84425	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.72394	-0.65;-0.65;-0.65	5.98	5.98	0.97165	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92641	0.6124	10	0.87932	D	0	-4.858	20.4366	0.99092	0.0:0.0:1.0:0.0	.	99;144;144	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	W	144;144;99	ENSP00000289416:G144W;ENSP00000394565:G144W;ENSP00000395297:G99W	ENSP00000289416:G144W	G	+	1	0	ACSM3	20694872	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	8.158000	0.89649	2.837000	0.97791	0.591000	0.81541	GGG		0.438	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	Missense_Mutation	22	47	1	0	3.83957e-06	1	3.98508e-06	22	47				
TOMM7	54543	broad.mit.edu	37	7	22862308	22862308	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:22862308C>T	ENST00000358435.4	-	1	162	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	TOMM7_ENST00000405021.3_5'Flank|TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000372879.4_Missense_Mutation_p.V31M	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)	31					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AGGTAAATCACAAGAGGGATA	0.587																																						ENST00000358435.4																			0				skin(1)	1						c.(91-93)Gtg>Atg		translocase of outer mitochondrial membrane 7 homolog (yeast)							131.0	124.0	126.0					7																	22862308		2203	4300	6503	SO:0001583	missense	54543				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr7:22862308C>T	AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.91G>A	7.37:g.22862308C>T	ENSP00000351214:p.Val31Met					TOMM7_ENST00000372879.4_Missense_Mutation_p.V31M|TOMM7_ENST00000463284.1_5'UTR	p.V31M	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN			1	162	-			31					O95939	Missense_Mutation	SNP	ENST00000358435.4	37	c.91G>A	CCDS5376.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889663	0.72524	.	.	ENSG00000196683	ENST00000358435;ENST00000372879	.	.	.	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	.	.	.	0.46356	D	0.999006	B	0.22851	0.076	B	0.27076	0.076	T	0.57522	-0.7797	8	0.56958	D	0.05	-16.6949	14.3772	0.66886	0.0:0.852:0.148:0.0	.	31	Q9P0U1	TOM7_HUMAN	M	31	.	ENSP00000351214:V31M	V	-	1	0	TOMM7	22828833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.407000	0.73280	1.496000	0.48567	0.655000	0.94253	GTG		0.587	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211623.1	NM_019059		49	53	0	0	0	1	0	49	53				
TYW1	55253	broad.mit.edu	37	7	66479425	66479425	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66479425G>A	ENST00000359626.5	+	5	611	c.447G>A	c.(445-447)gaG>gaA	p.E149E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	149	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAAGTGCAGAGTGGTTCTGCA	0.428																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(445-447)gaG>gaA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							169.0	145.0	153.0					7																	66479425		2203	4299	6502	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479425G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.447G>A	7.37:g.66479425G>A							p.E149E	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	611	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	149			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.447G>A	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		55	64	0	0	0	1	0	55	64				
CYP26A1	1592	broad.mit.edu	37	10	94834933	94834933	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:94834933G>A	ENST00000224356.4	+	4	778	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	CYP26A1_ENST00000394139.1_Missense_Mutation_p.A176T|CYP26A1_ENST00000371531.1_Missense_Mutation_p.A176T	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	245					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CCTCATTCACGCGCGCATCGA	0.687																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(526-528)Gcg>Acg		cytochrome P450, family 26, subfamily A, polypeptide 1							29.0	31.0	31.0					10																	94834933		2202	4297	6499	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834933G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.733G>A	10.37:g.94834933G>A	ENSP00000224356:p.Ala245Thr					CYP26A1_ENST00000224356.4_Missense_Mutation_p.A245T|CYP26A1_ENST00000394139.1_Missense_Mutation_p.A176T	p.A176T	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			4	904	+		Colorectal(252;0.122)	245					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.526G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962383	0.34659	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.72835	-0.69;-0.69;-0.69	5.27	3.39	0.38822	.	0.297578	0.37437	N	0.002087	T	0.54029	0.1833	L	0.33189	0.99	0.50171	D	0.999852	B;B	0.31680	0.231;0.335	B;B	0.26416	0.064;0.069	T	0.47497	-0.9113	10	0.31617	T	0.26	-17.5497	8.848	0.35181	0.0751:0.0:0.7773:0.1476	.	176;245	B3KNI4;O43174	.;CP26A_HUMAN	T	176;245;176	ENSP00000360586:A176T;ENSP00000224356:A245T;ENSP00000377695:A176T	ENSP00000224356:A245T	A	+	1	0	CYP26A1	94824923	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.590000	0.46154	0.775000	0.33450	-0.254000	0.11334	GCG		0.687	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			17	12	0	0	0	1	0	17	12				
RELN	5649	broad.mit.edu	37	7	103126834	103126834	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103126834G>T	ENST00000428762.1	-	61	9952	c.9793C>A	c.(9793-9795)Ctt>Att	p.L3265I	RELN_ENST00000473945.1_5'Flank|RELN_ENST00000424685.2_Missense_Mutation_p.L3265I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.L3265I|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3265					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L3265F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACTGGGAAGGTCGTGACTG	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			1	Substitution - Missense(1)	p.L3265F(1)	central_nervous_system(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9793-9795)Ctt>Att		reelin							53.0	54.0	53.0					7																	103126834		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103126834G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9793C>A	7.37:g.103126834G>T	ENSP00000392423:p.Leu3265Ile					RELN_ENST00000343529.5_Missense_Mutation_p.L3265I|RELN_ENST00000424685.2_Missense_Mutation_p.L3265I|CTB-107G13.1_ENST00000422488.1_RNA	p.L3265I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	9952	-			3265					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9793C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067219	0.76301	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.29142	1.58;1.58;1.58	5.86	4.97	0.65823	.	0.071230	0.64402	D	0.000019	T	0.34716	0.0907	M	0.69823	2.125	0.53688	D	0.999978	P;B	0.37083	0.581;0.228	B;B	0.31751	0.135;0.071	T	0.33007	-0.9885	10	0.72032	D	0.01	.	16.343	0.83101	0.0:0.0:0.8668:0.1332	.	3265;3265	P78509-2;P78509	.;RELN_HUMAN	I	3265;3265;3265;782;3265	ENSP00000392423:L3265I;ENSP00000345694:L3265I;ENSP00000388446:L3265I	ENSP00000345694:L3265I	L	-	1	0	RELN	102914070	1.000000	0.71417	0.999000	0.59377	0.642000	0.38348	6.437000	0.73421	1.464000	0.47987	-0.181000	0.13052	CTT		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	34	1	0	1.02788e-11	1	1.10723e-11	16	34				
FDXR	2232	broad.mit.edu	37	17	72859228	72859228	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72859228C>T	ENST00000293195.5	-	11	1393	c.1315G>A	c.(1315-1317)Gca>Aca	p.A439T	FDXR_ENST00000413947.2_Missense_Mutation_p.A470T|FDXR_ENST00000582944.1_Missense_Mutation_p.A431T|FDXR_ENST00000420580.2_Missense_Mutation_p.A399T|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000442102.2_Missense_Mutation_p.A482T|FDXR_ENST00000544854.1_Missense_Mutation_p.A387T|FDXR_ENST00000583917.1_Missense_Mutation_p.A411T|FDXR_ENST00000581530.1_Missense_Mutation_p.A445T	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	439					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TGGATGGCTGCGTAGCCAGGC	0.647																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1444-1446)Gca>Aca		ferredoxin reductase							28.0	27.0	27.0					17																	72859228		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72859228C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1315G>A	17.37:g.72859228C>T	ENSP00000293195:p.Ala439Thr					FDXR_ENST00000420580.2_Missense_Mutation_p.A399T|FDXR_ENST00000544854.1_Missense_Mutation_p.A387T|FDXR_ENST00000583917.1_Missense_Mutation_p.A411T|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.A470T|FDXR_ENST00000582944.1_Missense_Mutation_p.A431T|FDXR_ENST00000581530.1_Missense_Mutation_p.A445T|FDXR_ENST00000293195.5_Missense_Mutation_p.A439T	p.A482T	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			11	1530	-	all_lung(278;0.172)|Lung NSC(278;0.207)		439					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1444G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	5.014	0.188230	0.09547	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.22336	3.12;3.12;1.96;1.96	4.84	-4.04	0.04010	NAD(P)-binding domain (1);	1.052530	0.07387	N	0.888454	T	0.14227	0.0344	L	0.41906	1.305	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.003;0.003;0.002;0.002;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.13407	0.0;0.009;0.001;0.0;0.001;0.0;0.001;0.0;0.001;0.001	T	0.37596	-0.9699	10	0.26408	T	0.33	-0.8996	6.2508	0.20845	0.2196:0.521:0.0:0.2594	.	399;482;470;437;387;470;439;431;439;445	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	T	399;387;445;482;470	ENSP00000414172:A399T;ENSP00000445432:A387T;ENSP00000416515:A482T;ENSP00000408595:A470T	ENSP00000293195:A445T	A	-	1	0	FDXR	70370823	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.623000	0.05546	-0.431000	0.07307	0.462000	0.41574	GCA		0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		10	9	0	0	0	1	0	10	9				
CDYL	9425	broad.mit.edu	37	6	4937830	4937830	+	Missense_Mutation	SNP	C	C	T	rs148330526		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:4937830C>T	ENST00000328908.5	+	6	1273	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	CDYL_ENST00000343762.5_Missense_Mutation_p.T195M|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.T195M|CDYL_ENST00000397588.3_Missense_Mutation_p.T327M			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	381					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GCTCTGAGCACGGCCGCTGCC	0.428																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(1141-1143)aCg>aTg		chromodomain protein, Y-like		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	57.0	56.0	57.0		584,584,980	5.7	0.9	6	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	195/413,195/413,327/545	4937830	1,13005	2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937830C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1142C>T	6.37:g.4937830C>T	ENSP00000330512:p.Thr381Met					CDYL_ENST00000343762.5_Missense_Mutation_p.T195M|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.T195M|CDYL_ENST00000397588.3_Missense_Mutation_p.T327M	p.T381M			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1273	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	381					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1142C>T		.	.	.	.	.	.	.	.	.	.	C	16.22	3.061031	0.55432	0.0	1.16E-4	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.67	5.67	0.87782	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60345	0.8;0.873	T	0.70691	-0.4802	10	0.59425	D	0.04	.	19.1082	0.93305	0.0:1.0:0.0:0.0	.	327;381	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	M	381;107;327;195;195	ENSP00000330512:T381M;ENSP00000394740:T107M;ENSP00000380718:T327M;ENSP00000394076:T195M;ENSP00000340908:T195M	ENSP00000330512:T381M	T	+	2	0	CDYL	4882829	1.000000	0.71417	0.911000	0.35937	0.211000	0.24417	5.714000	0.68422	2.832000	0.97577	0.585000	0.79938	ACG		0.428	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		7	11	0	0	0	1	0	7	11				
CLDN16	10686	broad.mit.edu	37	3	190126206	190126206	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:190126206T>C	ENST00000264734.2	+	4	944	c.696T>C	c.(694-696)ttT>ttC	p.F232F	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	232			F -> C (in HOMG3). {ECO:0000269|PubMed:10390358}.		calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AATATAAATTTGGTTGGTCCT	0.418																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(694-696)ttT>ttC		claudin 16							215.0	206.0	209.0					3																	190126206		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190126206T>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.696T>C	3.37:g.190126206T>C						CLDN16_ENST00000456423.1_Intron	p.F232F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	4	944	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		232		F -> C (in HOMG3).				Silent	SNP	ENST00000264734.2	37	c.696T>C	CCDS3296.1																																																																																				0.418	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		52	94	0	0	0	1	0	52	94				
VPS13D	55187	broad.mit.edu	37	1	12416057	12416057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12416057C>T	ENST00000358136.3	+	48	9911	c.9781C>T	c.(9781-9783)Cag>Tag	p.Q3261*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q3236*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCGTCGGCAGCTGAACCT	0.453																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9781-9783)Cag>Tag		vacuolar protein sorting 13 homolog D (S. cerevisiae)							131.0	118.0	122.0					1																	12416057		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12416057C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9781C>T	1.37:g.12416057C>T	ENSP00000350854:p.Gln3261*					VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q3236*	p.Q3261*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	48	9911	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3260						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.9781C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	52	18.978802	0.99913	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.89	5.89	0.94794	.	0.064026	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	3236;3261	.	ENSP00000348666:Q3236X	Q	+	1	0	VPS13D	12338644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.466000	0.80914	2.793000	0.96121	0.655000	0.94253	CAG		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		33	65	0	0	0	1	0	33	65				
DCAF4L1	285429	broad.mit.edu	37	4	41984291	41984291	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:41984291C>T	ENST00000333141.5	+	1	579	c.482C>T	c.(481-483)gCg>gTg	p.A161V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(481-483)gCg>gTg		DDB1 and CUL4 associated factor 4-like 1							93.0	88.0	90.0					4																	41984291		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984291C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.482C>T	4.37:g.41984291C>T	ENSP00000327796:p.Ala161Val						p.A161V	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	579	+			161					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.482C>T	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538577	0.45176	.	.	ENSG00000182308	ENST00000333141	T	0.70516	-0.49	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046311	0.85682	D	0.000000	T	0.66356	0.2781	M	0.72894	2.215	0.35558	D	0.804415	D	0.53312	0.959	P	0.45971	0.499	T	0.68014	-0.5521	9	0.38643	T	0.18	.	.	.	.	.	161	Q3SXM0	DC4L1_HUMAN	V	161	ENSP00000327796:A161V	ENSP00000327796:A161V	A	+	2	0	DCAF4L1	41679048	0.994000	0.37717	0.177000	0.23020	0.190000	0.23558	3.170000	0.50816	-0.369000	0.08028	0.313000	0.20887	GCG		0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		26	46	0	0	0	1	0	26	46				
SPHKAP	80309	broad.mit.edu	37	2	228883382	228883382	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228883382G>T	ENST00000392056.3	-	7	2234	c.2188C>A	c.(2188-2190)Ctt>Att	p.L730I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L730I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	730						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCACCAAGCCGTACAATA	0.453																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2188-2190)Ctt>Att		SPHK1 interactor, AKAP domain containing							169.0	153.0	159.0					2																	228883382		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883382G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2188C>A	2.37:g.228883382G>T	ENSP00000375909:p.Leu730Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.L730I	p.L730I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2234	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	730					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2188C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.472	-0.321682	0.05386	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.61	2.24	0.28232	.	0.472911	0.25456	N	0.030543	T	0.10766	0.0263	L	0.53249	1.67	0.09310	N	1	P;P	0.39424	0.483;0.673	B;B	0.37144	0.122;0.242	T	0.20538	-1.0272	10	0.51188	T	0.08	.	1.9555	0.03375	0.2471:0.1425:0.4649:0.1454	.	730;730	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	730	ENSP00000375909:L730I;ENSP00000339886:L730I	ENSP00000339886:L730I	L	-	1	0	SPHKAP	228591626	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.011000	0.12721	0.791000	0.33826	0.655000	0.94253	CTT		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		48	60	1	0	2.64894e-19	1	2.93014e-19	48	60				
TRAP1	10131	broad.mit.edu	37	16	3736032	3736032	+	Nonsense_Mutation	SNP	G	G	A	rs377595918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3736032G>A	ENST00000246957.5	-	4	524	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q93*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	146					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCATTGGTCTGCAAGTGAATC	0.567																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(436-438)Cag>Tag		TNF receptor-associated protein 1							229.0	156.0	181.0					16																	3736032		2197	4300	6497	SO:0001587	stop_gained	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3736032G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.436C>T	16.37:g.3736032G>A	ENSP00000246957:p.Gln146*					TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q93*	p.Q146*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			4	524	-		Ovarian(90;0.0261)	146					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	ENST00000246957.5	37	c.436C>T	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	G	38	7.077176	0.98048	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.5	5.5	0.81552	.	0.058834	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-37.8877	18.3715	0.90408	0.0:0.0:1.0:0.0	.	.	.	.	X	146;93	.	ENSP00000246957:Q146X	Q	-	1	0	TRAP1	3676033	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	5.051000	0.64257	2.581000	0.87130	0.561000	0.74099	CAG		0.567	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		20	30	0	0	0	1	0	20	30				
WDR72	256764	broad.mit.edu	37	15	53998136	53998136	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:53998136C>T	ENST00000396328.1	-	10	1329	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	WDR72_ENST00000557913.1_Missense_Mutation_p.G361S|WDR72_ENST00000559418.1_Missense_Mutation_p.G374S|WDR72_ENST00000360509.5_Missense_Mutation_p.G364S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	364										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTAGGAGAACCATCAAACTTG	0.383																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1090-1092)Ggt>Agt		WD repeat domain 72							100.0	98.0	99.0					15																	53998136		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53998136C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1090G>A	15.37:g.53998136C>T	ENSP00000379619:p.Gly364Ser					WDR72_ENST00000557913.1_Missense_Mutation_p.G361S|WDR72_ENST00000360509.5_Missense_Mutation_p.G364S|WDR72_ENST00000559418.1_Missense_Mutation_p.G374S	p.G364S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	10	1329	-			364					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1090G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458120	0.84317	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.79033	-1.23;-1.23	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.70595	2.14	0.50039	D	0.999843	D	0.89917	1.0	D	0.91635	0.999	T	0.83253	-0.0052	10	0.22109	T	0.4	.	18.9709	0.92715	0.0:1.0:0.0:0.0	.	364	Q3MJ13	WDR72_HUMAN	S	364	ENSP00000379619:G364S;ENSP00000353699:G364S	ENSP00000353699:G364S	G	-	1	0	WDR72	51785428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.045000	0.71020	2.728000	0.93425	0.655000	0.94253	GGT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		21	30	0	0	0	1	0	21	30				
ALMS1	7840	broad.mit.edu	37	2	73677127	73677127	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:73677127C>T	ENST00000264448.6	+	8	3581	c.3470C>T	c.(3469-3471)gCc>gTc	p.A1157V	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1115V|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1157V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1157	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACCAGCAGGCCTTGCCAGGT	0.478																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3469-3471)gCc>gTc		Alstrom syndrome 1							158.0	154.0	155.0					2																	73677127		1846	4091	5937	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677127C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3470C>T	2.37:g.73677127C>T	ENSP00000264448:p.Ala1157Val					ALMS1_ENST00000409009.1_Missense_Mutation_p.A1115V|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1157V	p.A1157V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3581	+			1157			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3470C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244971	0.22796	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14893	3.36;3.36;2.47	3.94	-7.87	0.01183	.	2.855760	0.01058	N	0.004585	T	0.08492	0.0211	N	0.16790	0.44	0.09310	N	1	D;B;B	0.53745	0.962;0.003;0.065	B;B;B	0.44108	0.441;0.003;0.05	T	0.37709	-0.9694	10	0.24483	T	0.36	.	0.6903	0.00890	0.4067:0.2053:0.1827:0.2054	.	1157;1115;1157	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	1115;1157;1157	ENSP00000386627:A1115V;ENSP00000264448:A1157V;ENSP00000366944:A1157V	ENSP00000264448:A1157V	A	+	2	0	ALMS1	73530635	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-8.088000	0.00025	-2.485000	0.00520	-0.397000	0.06425	GCC		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		70	134	0	0	0	1	0	70	134				
SPG21	51324	broad.mit.edu	37	15	65261632	65261632	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65261632T>C	ENST00000204566.2	-	7	924	c.629A>G	c.(628-630)gAa>gGa	p.E210G	SPG21_ENST00000559199.1_Missense_Mutation_p.E56G|SPG21_ENST00000433215.2_Missense_Mutation_p.E210G|SPG21_ENST00000416889.2_Missense_Mutation_p.E183G	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	210				E -> V (in Ref. 4; BAD18813). {ECO:0000305}.	antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTTATGAGGTTCCACATAAGA	0.343																																						ENST00000559199.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(166-168)gAa>gGa		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							105.0	110.0	108.0					15																	65261632		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65261632T>C	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.629A>G	15.37:g.65261632T>C	ENSP00000204566:p.Glu210Gly					SPG21_ENST00000204566.2_Missense_Mutation_p.E210G|SPG21_ENST00000433215.2_Missense_Mutation_p.E210G|SPG21_ENST00000416889.2_Missense_Mutation_p.E183G	p.E56G			Q9NZD8	SPG21_HUMAN			5	1167	-			210					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.167A>G	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.209914	0.79240	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.69685	-0.42;-0.42;-0.42	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	L	0.27053	0.805	0.80722	D	1	D;P	0.53745	0.962;0.889	P;P	0.51101	0.528;0.659	T	0.60265	-0.7297	10	0.24483	T	0.36	-1.1168	15.2533	0.73564	0.0:0.0:0.0:1.0	.	183;210	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	G	210;183;210	ENSP00000204566:E210G;ENSP00000394846:E183G;ENSP00000404111:E210G	ENSP00000204566:E210G	E	-	2	0	SPG21	63048685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.673000	0.83973	2.271000	0.75665	0.528000	0.53228	GAA		0.343	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		17	61	0	0	0	1	0	17	61				
ROS1	6098	broad.mit.edu	37	6	117642475	117642475	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:117642475C>T	ENST00000368508.3	-	35	5922	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.E1902E	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1908					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)		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)		GACCTCGCAGCTCAGCCAACT	0.463			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(5722-5724)gaG>gaA		c-ros oncogene 1 , receptor tyrosine kinase							167.0	157.0	160.0					6																	117642475		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117642475C>T	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.5724G>A	6.37:g.117642475C>T						GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.E1902E	p.E1908E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	35	5922	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1908					Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.5724G>A	CCDS5116.1																																																																																				0.463	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			58	86	0	0	0	1	0	58	86				
PIK3CD	5293	broad.mit.edu	37	1	9775719	9775719	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9775719C>T	ENST00000377346.4	+	4	457	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R88C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R88C|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CGAGCAACGGCGTCTGTGTGA	0.617																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(262-264)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							78.0	73.0	75.0					1																	9775719		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775719C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.262C>T	1.37:g.9775719C>T	ENSP00000366563:p.Arg88Cys					PIK3CD_ENST00000361110.2_Missense_Mutation_p.R88C|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R88C	p.R88C			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	470	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	88					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.262C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676231	0.88445	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.81078	-1.45;-1.45;-1.45	5.95	4.02	0.46733	Phosphatidylinositol 3-kinase, p85-binding (2);	0.055638	0.85682	D	0.000000	D	0.87370	0.6160	M	0.62723	1.935	0.80722	D	1	B;D;D	0.89917	0.335;1.0;0.999	B;D;D	0.87578	0.377;0.998;0.969	D	0.87323	0.2319	10	0.62326	D	0.03	-48.7178	13.3175	0.60415	0.2971:0.7029:0.0:0.0	.	88;88;88	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	C	88	ENSP00000446444:R88C;ENSP00000366563:R88C;ENSP00000354410:R88C	ENSP00000353766:R88C	R	+	1	0	PIK3CD	9698306	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.017000	0.49615	0.782000	0.33613	0.563000	0.77884	CGT		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		11	29	0	0	0	1	0	11	29				
AASS	10157	broad.mit.edu	37	7	121773658	121773658	+	Silent	SNP	C	C	T	rs150573609	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121773658C>T	ENST00000393376.1	-	1	218	c.123G>A	c.(121-123)ccG>ccA	p.P41P	AASS_ENST00000417368.2_Silent_p.P41P|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	41	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGGAGCTAGCGGGGCCCTTC	0.567													A|||	2	0.000399361	0.0	0.0	5008	,	,		16377	0.0		0.0	False		,,,				2504	0.002					ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(121-123)ccG>ccA		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	A		0,4406		0,0,2203	110.0	97.0	101.0		123	-10.6	0.0	7	dbSNP_134	101	2,8598		0,2,4298	no	coding-synonymous	AASS	NM_005763.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		41/927	121773658	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773658C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.123G>A	7.37:g.121773658C>T						AASS_ENST00000417368.2_Silent_p.P41P|AASS_ENST00000473553.1_Intron	p.P41P			Q9UDR5	AASS_HUMAN			1	218	-			41			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.123G>A	CCDS5783.1																																																																																				0.567	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		15	17	0	0	0	1	0	15	17				
SLC35F3	148641	broad.mit.edu	37	1	234367424	234367424	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234367424C>T	ENST00000366617.3	+	2	566	c.338C>T	c.(337-339)cCg>cTg	p.P113L	SLC35F3_ENST00000366618.3_Missense_Mutation_p.P182L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	113					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.P182Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTATTCTTCCCGTTGTACTAC	0.592																																						ENST00000366618.3																			1	Substitution - Missense(1)	p.P182Q(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(544-546)cCg>cTg		solute carrier family 35, member F3							159.0	148.0	152.0					1																	234367424		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367424C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.338C>T	1.37:g.234367424C>T	ENSP00000355576:p.Pro113Leu					SLC35F3_ENST00000366617.3_Missense_Mutation_p.P113L	p.P182L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	690	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	113					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.545C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.079561	0.94050	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.57273	0.48;0.41	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72773	-0.4192	10	0.44086	T	0.13	-15.5439	17.6017	0.88027	0.0:1.0:0.0:0.0	.	113;182	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	L	182;113	ENSP00000355577:P182L;ENSP00000355576:P113L	ENSP00000355576:P113L	P	+	2	0	SLC35F3	232434047	1.000000	0.71417	0.934000	0.37439	0.982000	0.71751	7.061000	0.76699	2.364000	0.80123	0.591000	0.81541	CCG		0.592	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		10	216	0	0	0	1	0	10	216				
GDF1	2657	broad.mit.edu	37	19	18980810	18980810	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18980810G>A	ENST00000247005.6	-	7	1652	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	103					growth (GO:0040007)	extracellular space (GO:0005615)											GGGATGTGGCGCACGATGTTT	0.716																																						ENST00000247005.6																			0											c.(307-309)Cgc>Tgc		growth differentiation factor 1							9.0	12.0	11.0					19																	18980810		2050	4191	6241	SO:0001583	missense	2657							g.chr19:18980810G>A	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"""Endogenous ligands"""	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.307C>T	19.37:g.18980810G>A	ENSP00000247005:p.Arg103Cys					CERS1_ENST00000427170.2_3'UTR	p.R103C							7	1652	-								O43344	Missense_Mutation	SNP	ENST00000247005.6	37	c.307C>T	CCDS42526.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592662	0.66219	.	.	ENSG00000130283	ENST00000247005	T	0.71461	-0.57	3.29	2.22	0.28083	.	0.064544	0.64402	U	0.000005	T	0.73313	0.3571	L	0.61218	1.895	0.58432	D	0.999999	.	.	.	.	.	.	T	0.75266	-0.3378	8	0.87932	D	0	.	8.2006	0.31421	0.2076:0.0:0.7924:0.0	.	.	.	.	C	103	ENSP00000247005:R103C	ENSP00000247005:R103C	R	-	1	0	GDF1	18841810	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.228000	0.32588	1.558000	0.49541	0.471000	0.43371	CGC		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		4	6	0	0	0	1	0	4	6				
KRT40	125115	broad.mit.edu	37	17	39135121	39135121	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39135121G>A	ENST00000398486.2	-	8	1291	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	AC004231.2_ENST00000418393.1_RNA|KRT40_ENST00000377755.4_Silent_p.D377D	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	377	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGCCTTCACGTCCAGGAGCA	0.587																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1129-1131)gaC>gaT		keratin 40							88.0	96.0	94.0					17																	39135121		2203	4296	6499	SO:0001819	synonymous_variant	125115					intermediate filament	structural molecule activity	g.chr17:39135121G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1131C>T	17.37:g.39135121G>A						KRT40_ENST00000398486.2_Silent_p.D377D	p.D377D			Q6A162	K1C40_HUMAN			6	1165	-		Breast(137;0.00043)	377			Coil 2.|Rod.		Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.1131C>T	CCDS42320.1																																																																																				0.587	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		40	61	0	0	0	1	0	40	61				
CES5A	221223	broad.mit.edu	37	16	55880483	55880483	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55880483C>A	ENST00000290567.9	-	13	1729	c.1608G>T	c.(1606-1608)gtG>gtT	p.V536V	CES5A_ENST00000518005.1_Silent_p.V430V|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.V486V|CES5A_ENST00000520435.1_Silent_p.V506V|CES5A_ENST00000521992.1_Silent_p.V565V	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	536						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCAAAAATCCACCCGCGGTT	0.532																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1693-1695)gtG>gtT		carboxylesterase 5A							212.0	208.0	209.0					16																	55880483		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55880483C>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1608G>T	16.37:g.55880483C>A						CES5A_ENST00000290567.9_Silent_p.V536V|CES5A_ENST00000520435.1_Silent_p.V506V|CES5A_ENST00000518005.1_Silent_p.V430V|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.V486V	p.V565V	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			14	1840	-			536					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1695G>T	CCDS45490.1																																																																																				0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		71	128	1	0	2.69673e-31	1	3.02383e-31	71	128				
TBATA	219793	broad.mit.edu	37	10	72531147	72531147	+	Silent	SNP	C	C	T	rs145511092		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72531147C>T	ENST00000299290.1	-	11	1430	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	347					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											TCTCTGCCCTCGGCTTCGATG	0.552																																						ENST00000299290.1																			0											c.(1039-1041)ccG>ccA		thymus, brain and testes associated				1,4405	2.1+/-5.4	0,1,2202	184.0	173.0	176.0		1041	-4.4	0.0	10	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	C10orf27	NM_152710.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		347/352	72531147	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219793							g.chr10:72531147C>T	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.1041G>A	10.37:g.72531147C>T						TBATA_ENST00000394982.2_5'UTR	p.P347P	NM_152710.2	NP_689923.2					11	1430	-								A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	ENST00000299290.1	37	c.1041G>A	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	c	9.010	0.982357	0.18889	2.27E-4	0.0	ENSG00000166220	ENST00000394982	.	.	.	4.0	-4.37	0.03633	.	.	.	.	.	T	0.26048	0.0635	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39860	-0.9593	5	0.87932	D	0	-1.2323	1.2496	0.01980	0.1514:0.3263:0.1537:0.3686	.	.	.	.	K	68	.	ENSP00000378433:E68K	E	-	1	0	C10orf27	72201153	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	-0.147000	0.10234	-0.568000	0.06038	-0.482000	0.04802	GAG		0.552	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		47	66	0	0	0	1	0	47	66				
SDPR	8436	broad.mit.edu	37	2	192701140	192701140	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192701140C>T	ENST00000304141.4	-	2	1116	c.787G>A	c.(787-789)Gta>Ata	p.V263I		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCTACAGATACGATCTTTGTC	0.423																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(787-789)Gta>Ata		serum deprivation response	Phosphatidylserine(DB00144)						220.0	237.0	231.0					2																	192701140		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701140C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.787G>A	2.37:g.192701140C>T	ENSP00000305675:p.Val263Ile						p.V263I	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1116	-			263						Missense_Mutation	SNP	ENST00000304141.4	37	c.787G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729442	0.89390	.	.	ENSG00000168497	ENST00000304141	T	0.64438	-0.1	5.01	4.13	0.48395	.	0.065684	0.64402	N	0.000009	T	0.75369	0.3840	M	0.70275	2.135	0.58432	D	0.999992	D	0.76494	0.999	D	0.64877	0.93	T	0.78679	-0.2110	10	0.72032	D	0.01	-13.7961	13.3825	0.60775	0.0:0.9242:0.0:0.0758	.	263	O95810	SDPR_HUMAN	I	263	ENSP00000305675:V263I	ENSP00000305675:V263I	V	-	1	0	SDPR	192409385	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	5.932000	0.70121	1.349000	0.45751	0.563000	0.77884	GTA		0.423	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		5	231	0	0	0	1	0	5	231				
ASPH	444	broad.mit.edu	37	8	62430187	62430187	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:62430187C>T	ENST00000379454.4	-	24	2213	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	ASPH_ENST00000541428.1_Missense_Mutation_p.V647M	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	676					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCGGCCACACGTGAGTCCCG	0.512																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1939-1941)Gtg>Atg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						114.0	101.0	106.0					8																	62430187		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430187C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2026G>A	8.37:g.62430187C>T	ENSP00000368767:p.Val676Met					ASPH_ENST00000379454.4_Missense_Mutation_p.V676M	p.V647M	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			24	2099	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	676					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1939G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192045	0.94923	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.51817	0.69;0.69	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.78127	-0.2325	10	0.87932	D	0	-18.9395	20.4192	0.99033	0.0:1.0:0.0:0.0	.	647;676	F5H667;Q12797	.;ASPH_HUMAN	M	647;676	ENSP00000437864:V647M;ENSP00000368767:V676M	ENSP00000368767:V676M	V	-	1	0	ASPH	62592741	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.378000	0.79679	2.831000	0.97527	0.650000	0.86243	GTG		0.512	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		21	42	0	0	0	1	0	21	42				
PTPRS	5802	broad.mit.edu	37	19	5208351	5208351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5208351G>A	ENST00000587303.1	-	35	5638	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1827*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000372412.4_Nonsense_Mutation_p.Q1848*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1847	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCACACCCTGTTCCGGCCAG	0.582																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5542-5544)Cag>Tag		protein tyrosine phosphatase, receptor type, S							82.0	70.0	74.0					19																	5208351		2203	4300	6503	SO:0001587	stop_gained	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5208351G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5539C>T	19.37:g.5208351G>A	ENSP00000467537:p.Gln1847*					PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1400*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1809*|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1827*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1847*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1400*	p.Q1848*			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	36	5775	-			1847			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Nonsense_Mutation	SNP	ENST00000587303.1	37	c.5542C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	46	12.494371	0.99672	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	2.72	2.72	0.32119	.	0.088208	0.47093	U	0.000259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.8932	0.58084	0.0:0.0:1.0:0.0	.	.	.	.	X	1442;1848;1847;1847;1838;1827;1809;1429;1404;1400	.	ENSP00000262963:Q1827X	Q	-	1	0	PTPRS	5159351	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	7.463000	0.80869	1.553000	0.49476	0.466000	0.42574	CAG		0.582	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	31	0	0	0	1	0	7	31				
NBEAL2	23218	broad.mit.edu	37	3	47043455	47043455	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47043455G>A	ENST00000450053.3	+	31	5007	c.4828G>A	c.(4828-4830)Gca>Aca	p.A1610T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1610					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTACAGACTGCAGTGCCAGC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4828-4830)Gca>Aca		neurobeachin-like 2							13.0	17.0	16.0					3																	47043455		2145	4243	6388	SO:0001583	missense	23218						binding	g.chr3:47043455G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4828G>A	3.37:g.47043455G>A	ENSP00000415034:p.Ala1610Thr					NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	p.A1610T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	31	5007	+		Acute lymphoblastic leukemia(5;0.0534)	1610					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4828G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.071	0.010971	0.07912	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.47;0.45	4.66	-0.559	0.11792	.	0.739822	0.12480	N	0.465269	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17715	-1.0360	10	0.24483	T	0.36	.	4.06	0.09834	0.3053:0.0:0.4394:0.2552	.	1426;1610	Q6ZNJ1-2;Q6ZNJ1	.;NBEL2_HUMAN	T	1426;1610	ENSP00000292309:A1426T;ENSP00000415034:A1610T	ENSP00000292309:A1426T	A	+	1	0	NBEAL2	47018459	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.124000	0.10595	-0.331000	0.08501	-0.150000	0.13652	GCA		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	11	0	0	0	1	0	7	11				
MYO6	4646	broad.mit.edu	37	6	76600989	76600989	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76600989G>A	ENST00000369977.3	+	27	3051	c.2912G>A	c.(2911-2913)aGa>aAa	p.R971K	MYO6_ENST00000369981.3_Missense_Mutation_p.R971K|MYO6_ENST00000369975.1_Missense_Mutation_p.R971K|MYO6_ENST00000369985.4_Missense_Mutation_p.R971K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	971	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAGAAGAGAGAAAGAAAAGG	0.343																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2911-2913)aGa>aAa		myosin VI							76.0	82.0	80.0					6																	76600989		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76600989G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2912G>A	6.37:g.76600989G>A	ENSP00000358994:p.Arg971Lys					MYO6_ENST00000369975.1_Missense_Mutation_p.R971K|MYO6_ENST00000369985.4_Missense_Mutation_p.R971K|MYO6_ENST00000369977.3_Missense_Mutation_p.R971K	p.R971K			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	27	3191	+		all_hematologic(105;0.189)	971			Glu-rich.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2912G>A	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519744	0.64634	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.20881	2.32;2.87;2.87;2.04;3.18	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.55834	1.745	0.50039	D	0.999847	P;P	0.47910	0.902;0.902	P;P	0.60173	0.87;0.87	T	0.03840	-1.0999	10	0.02654	T	1	.	14.9217	0.70843	0.0:0.0:1.0:0.0	.	971;971	Q9UM54-2;Q9UM54-1	.;.	K	971;971;971;971;971;34	ENSP00000358998:R971K;ENSP00000359002:R971K;ENSP00000358994:R971K;ENSP00000358992:R971K;ENSP00000399406:R34K	ENSP00000358992:R971K	R	+	2	0	MYO6	76657709	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.669000	0.68081	2.796000	0.96246	0.655000	0.94253	AGA		0.343	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		3	26	0	0	0	1	0	3	26				
PDPR	55066	broad.mit.edu	37	16	70190674	70190674	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70190674C>T	ENST00000288050.4	+	19	3489	c.2532C>T	c.(2530-2532)atC>atT	p.I844I	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.I844I|PDPR_ENST00000398122.3_Silent_p.I744I|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.I202I|PDPR_ENST00000542659.1_Silent_p.I189I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	844					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGATTGACATCGCGGGATACC	0.542																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2530-2532)atC>atT		pyruvate dehydrogenase phosphatase regulatory subunit							92.0	110.0	104.0					16																	70190674		2080	4218	6298	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190674C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2532C>T	16.37:g.70190674C>T						PDPR_ENST00000568530.1_Silent_p.I844I|PDPR_ENST00000562100.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Silent_p.I744I|PDPR_ENST00000542659.1_Silent_p.I189I|PDPR_ENST00000567046.1_Silent_p.I202I	p.I844I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3489	+			844					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.2532C>T	CCDS45520.1																																																																																				0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		11	52	0	0	0	1	0	11	52				
KIAA1407	57577	broad.mit.edu	37	3	113684058	113684058	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113684058G>A	ENST00000295878.3	-	17	2901	c.2755C>T	c.(2755-2757)Cta>Tta	p.L919L		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	919										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGATATAGCTCGTGGTAC	0.428																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2755-2757)Cta>Tta		KIAA1407							133.0	136.0	135.0					3																	113684058		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684058G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2755C>T	3.37:g.113684058G>A							p.L919L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2901	-			919					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2755C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	8.151	0.787378	0.16258	.	.	ENSG00000184307	ENST00000496083	.	.	.	4.48	-8.96	0.00761	.	.	.	.	.	T	0.30230	0.0758	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40572	-0.9556	5	0.62326	D	0.03	.	3.7919	0.08724	0.4145:0.3582:0.1368:0.0905	.	.	.	.	T	43	.	ENSP00000417579:A43T	A	+	1	0	ZDHHC23	115166748	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.095000	0.03356	-2.877000	0.00320	-0.312000	0.09012	GCT		0.428	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		18	58	0	0	0	1	0	18	58				
TMEM117	84216	broad.mit.edu	37	12	44338119	44338119	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44338119G>A	ENST00000266534.3	+	3	511	c.384G>A	c.(382-384)acG>acA	p.T128T	TMEM117_ENST00000536799.1_Missense_Mutation_p.D58N|TMEM117_ENST00000551577.1_Silent_p.T128T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATACAACACGATTCTTCTAA	0.368																																						ENST00000536799.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(172-174)Gat>Aat		transmembrane protein 117							215.0	200.0	205.0					12																	44338119		2203	4300	6503	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44338119G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.384G>A	12.37:g.44338119G>A						TMEM117_ENST00000266534.3_Silent_p.T128T|TMEM117_ENST00000551577.1_Silent_p.T128T	p.D58N			Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	2	172	+	Lung SC(27;0.192)		0						Missense_Mutation	SNP	ENST00000266534.3	37	c.172G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492710	0.64074	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	0.473	0.16763	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.20821	N	0.999847	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	7	0.87932	D	0	-4.721	5.62	0.17451	0.204:0.2749:0.5211:0.0	.	58	F5H3Q2	.	N	58	.	ENSP00000445243:D58N	D	+	1	0	TMEM117	42624386	0.402000	0.25311	0.985000	0.45067	0.675000	0.39556	-0.350000	0.07721	-0.122000	0.11766	0.591000	0.81541	GAT		0.368	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		24	52	0	0	0	1	0	24	52				
ZNF804B	219578	broad.mit.edu	37	7	88965976	88965976	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:88965976G>A	ENST00000333190.4	+	4	4289	c.3680G>A	c.(3679-3681)aGc>aAc	p.S1227N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1227							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTTCTCATAGCAGTCACCTC	0.473										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3679-3681)aGc>aAc		zinc finger protein 804B							208.0	178.0	188.0					7																	88965976		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965976G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3680G>A	7.37:g.88965976G>A	ENSP00000329638:p.Ser1227Asn	HNSCC(36;0.09)					p.S1227N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4289	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1227					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3680G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.880266	0.00537	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	4.84	2.0	0.26442	.	0.649781	0.15679	N	0.249987	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43686	-0.9376	10	0.20519	T	0.43	-0.7477	8.4917	0.33104	0.205:0.1137:0.6813:0.0	.	1227	A4D1E1	Z804B_HUMAN	N	1227	ENSP00000329638:S1227N	ENSP00000329638:S1227N	S	+	2	0	ZNF804B	88803912	0.002000	0.14202	0.425000	0.26659	0.147000	0.21601	1.451000	0.35145	0.060000	0.16281	-0.797000	0.03246	AGC		0.473	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		23	47	0	0	0	1	0	23	47				
OR4C46	119749	broad.mit.edu	37	11	51515403	51515403	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:51515403T>C	ENST00000328188.1	+	1	122	c.122T>C	c.(121-123)gTg>gCg	p.V41A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V41A(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTGGGATATGTGCTCATTGTG	0.453																																						ENST00000328188.1																			1	Substitution - Missense(1)	p.V41A(1)	endometrium(1)	endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(121-123)gTg>gCg		olfactory receptor, family 4, subfamily C, member 46							239.0	228.0	232.0					11																	51515403		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515403T>C		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.122T>C	11.37:g.51515403T>C	ENSP00000329056:p.Val41Ala						p.V41A	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	122	+			41						Missense_Mutation	SNP	ENST00000328188.1	37	c.122T>C	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	7.428	0.638151	0.14386	.	.	ENSG00000185926	ENST00000328188	T	0.00011	9.36	2.63	-0.0215	0.13951	GPCR, rhodopsin-like superfamily (1);	1.154360	0.06801	U	0.788682	T	0.00073	0.0002	N	0.25647	0.755	0.09310	N	1	B	0.19706	0.038	B	0.26094	0.066	T	0.11179	-1.0598	10	0.72032	D	0.01	.	4.2617	0.10744	0.0:0.1228:0.2035:0.6737	.	41	A6NHA9	O4C46_HUMAN	A	41	ENSP00000329056:V41A	ENSP00000329056:V41A	V	+	2	0	OR4C46	51371979	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.439000	0.21575	-0.088000	0.12506	-4.024000	0.00013	GTG		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		9	119	0	0	0	1	0	9	119				
SP4	6671	broad.mit.edu	37	7	21469341	21469341	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21469341T>C	ENST00000222584.3	+	3	776	c.558T>C	c.(556-558)agT>agC	p.S186S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	186	Poly-Ser.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTAGTAGTTCATCTCTAC	0.393																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(556-558)agT>agC		Sp4 transcription factor							78.0	75.0	76.0					7																	21469341		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469341T>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.558T>C	7.37:g.21469341T>C							p.S186S	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	776	+			186			Poly-Ser.		O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.558T>C	CCDS5373.1																																																																																				0.393	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		35	38	0	0	0	1	0	35	38				
EVPL	2125	broad.mit.edu	37	17	74018511	74018511	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74018511G>A	ENST00000301607.3	-	5	842	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	EVPL_ENST00000586740.1_Missense_Mutation_p.R197W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	197	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACGAGGCTCCGCAGCTGCTGC	0.672																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(589-591)Cgg>Tgg		envoplakin							54.0	53.0	53.0					17																	74018511		2202	4300	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74018511G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.589C>T	17.37:g.74018511G>A	ENSP00000301607:p.Arg197Trp					EVPL_ENST00000586740.1_Missense_Mutation_p.R197W	p.R197W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			5	842	-			197			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.589C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808571	0.31961	.	.	ENSG00000167880	ENST00000301607	T	0.30714	1.52	4.3	2.25	0.28309	.	0.294589	0.31370	N	0.007765	T	0.32645	0.0836	L	0.36672	1.1	0.29709	N	0.839554	D;D	0.76494	0.999;0.999	P;P	0.53689	0.719;0.732	T	0.20874	-1.0262	10	0.87932	D	0	-34.4747	9.1155	0.36755	0.0:0.1228:0.5228:0.3544	.	197;197	B7ZLH8;Q92817	.;EVPL_HUMAN	W	197	ENSP00000301607:R197W	ENSP00000301607:R197W	R	-	1	2	EVPL	71530106	0.986000	0.35501	0.914000	0.36105	0.003000	0.03518	1.836000	0.39191	0.359000	0.24239	-1.131000	0.01979	CGG		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	7	0	0	0	1	0	5	7				
KMT2B	9757	broad.mit.edu	37	19	36216181	36216181	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36216181C>T	ENST00000222270.7	+	11	3589	c.3589C>T	c.(3589-3591)Cca>Tca	p.P1197S	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1197S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1197					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)										CACCTCTGTGCCAGGGGGCCC	0.607																																						ENST00000222270.7																			0											c.(3589-3591)Cca>Tca									29.0	34.0	32.0					19																	36216181		1971	4126	6097	SO:0001583	missense	0							g.chr19:36216181C>T	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.3589C>T	19.37:g.36216181C>T	ENSP00000222270:p.Pro1197Ser					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1197S	p.P1197S	NM_014727.1	NP_055542.1					11	3589	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3589C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308978	0.60305	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88277	-2.36;-2.36	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000450	D	0.91676	0.7369	L	0.39147	1.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.69307	0.963	D	0.90201	0.4257	10	0.37606	T	0.19	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	1197	Q9UMN6	MLL4_HUMAN	S	1197	ENSP00000222270:P1197S;ENSP00000398837:P1197S	ENSP00000222270:P1197S	P	+	1	0	AD000671.1	40908021	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.489000	0.66875	2.884000	0.98904	0.655000	0.94253	CCA		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	7	0	0	0	1	0	10	7				
HDAC5	10014	broad.mit.edu	37	17	42170972	42170972	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42170972G>A	ENST00000393622.2	-	4	656	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	HDAC5_ENST00000336057.5_Missense_Mutation_p.H109Y|HDAC5_ENST00000225983.6_Missense_Mutation_p.H110Y|HDAC5_ENST00000586802.1_Missense_Mutation_p.H109Y	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	109					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGGACCTCATGCTGCCTTGTC	0.652																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(328-330)Cat>Tat		histone deacetylase 5							24.0	23.0	23.0					17																	42170972		2197	4283	6480	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170972G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.325C>T	17.37:g.42170972G>A	ENSP00000377244:p.His109Tyr					HDAC5_ENST00000393622.2_Missense_Mutation_p.H109Y|HDAC5_ENST00000336057.5_Missense_Mutation_p.H109Y|HDAC5_ENST00000586802.1_Missense_Mutation_p.H109Y	p.H110Y			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	651	-		Breast(137;0.00637)|Prostate(33;0.0313)	109					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.328C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147139	0.77888	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.05382	3.45;3.45;3.45	4.31	4.31	0.51392	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000003	T	0.18718	0.0449	M	0.84433	2.695	0.58432	D	0.999997	P;P;P;P	0.48162	0.886;0.906;0.807;0.839	B;P;B;B	0.48400	0.265;0.576;0.265;0.383	T	0.06197	-1.0840	10	0.87932	D	0	-10.0268	15.5412	0.76048	0.0:0.0:1.0:0.0	.	109;109;110;109	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	Y	110;109;109	ENSP00000225983:H110Y;ENSP00000377244:H109Y;ENSP00000337290:H109Y	ENSP00000225983:H110Y	H	-	1	0	HDAC5	39526498	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	9.366000	0.97143	1.946000	0.56461	0.462000	0.41574	CAT		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		9	24	0	0	0	1	0	9	24				
P2RY2	5029	broad.mit.edu	37	11	72945705	72945705	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72945705C>T	ENST00000311131.2	+	3	968	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_ENST00000393596.2_Silent_p.P167P|P2RY2_ENST00000393597.2_Silent_p.P167P	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	167					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(499-501)ccC>ccT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						22.0	25.0	24.0					11																	72945705		2197	4285	6482	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945705C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.501C>T	11.37:g.72945705C>T						P2RY2_ENST00000393597.2_Silent_p.P167P|P2RY2_ENST00000393596.2_Silent_p.P167P	p.P167P	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	968	+			167					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.501C>T	CCDS8219.1																																																																																				0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		17	21	0	0	0	1	0	17	21				
RNF133	168433	broad.mit.edu	37	7	122338099	122338099	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:122338099T>C	ENST00000340112.2	-	1	1111	c.874A>G	c.(874-876)Aca>Gca	p.T292A	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	292					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGGGGCATGTCCCATGGGGT	0.373																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(874-876)Aca>Gca		ring finger protein 133							81.0	81.0	81.0					7																	122338099		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338099T>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.874A>G	7.37:g.122338099T>C	ENSP00000344489:p.Thr292Ala					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	p.T292A	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	1111	-			292					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.874A>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860952	0.71949	.	.	ENSG00000188050	ENST00000340112	T	0.45668	0.89	5.53	5.53	0.82687	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.64402	U	0.000001	T	0.57710	0.2072	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60286	-0.7293	10	0.72032	D	0.01	.	13.8971	0.63778	0.0:0.0:0.0:1.0	.	292	Q8WVZ7	RN133_HUMAN	A	292	ENSP00000344489:T292A	ENSP00000344489:T292A	T	-	1	0	RNF133	122125335	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.653000	0.74382	2.099000	0.63709	0.402000	0.26972	ACA		0.373	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		34	45	0	0	0	1	0	34	45				
CDX4	1046	broad.mit.edu	37	X	72667140	72667140	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:72667140T>C	ENST00000373514.2	+	1	51	c.51T>C	c.(49-51)acT>acC	p.T17T		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	17					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACCCGGGCACTCTCATGAGCC	0.612																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(49-51)acT>acC		caudal type homeobox 4							39.0	38.0	39.0					X																	72667140		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667140T>C	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.51T>C	X.37:g.72667140T>C							p.T17T	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	51	+	Renal(35;0.156)		17					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.51T>C	CCDS14424.1																																																																																				0.612	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		23	7	0	0	0	1	0	23	7				
FCGBP	8857	broad.mit.edu	37	19	40398445	40398445	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40398445G>A	ENST00000221347.6	-	14	6529	c.6522C>T	c.(6520-6522)ggC>ggT	p.G2174G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2174	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACGTCGGCGCCGCTCAGGT	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(6520-6522)ggC>ggT		Fc fragment of IgG binding protein							23.0	26.0	25.0					19																	40398445		1825	3500	5325	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40398445G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6522C>T	19.37:g.40398445G>A							p.G2174G	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	6529	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2174			VWFD 5.		O95784	Silent	SNP	ENST00000221347.6	37	c.6522C>T	CCDS12546.1																																																																																				0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	23	0	0	0	1	0	18	23				
SLC5A10	125206	broad.mit.edu	37	17	18855617	18855617	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18855617C>T	ENST00000395645.3	+	1	117	c.99C>T	c.(97-99)gcC>gcT	p.A33A	SLC5A10_ENST00000417251.2_Silent_p.A33A|SLC5A10_ENST00000395643.2_Silent_p.A33A|SLC5A10_ENST00000395647.2_Silent_p.A33A|AC090286.4_ENST00000354432.3_RNA|SLC5A10_ENST00000395642.1_5'UTR|SLC5A10_ENST00000317977.6_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	33					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGAATGTGGCCGTGGGCATAT	0.612																																						ENST00000395647.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(97-99)gcC>gcT		solute carrier family 5 (sodium/sugar cotransporter), member 10																																				SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18855617C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.99C>T	17.37:g.18855617C>T						SLC5A10_ENST00000395645.3_Silent_p.A33A|AC090286.4_ENST00000354432.3_RNA|SLC5A10_ENST00000417251.2_Silent_p.A33A|SLC5A10_ENST00000395642.1_5'UTR|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Silent_p.A33A	p.A33A	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN			1	140	+			33					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.99C>T	CCDS42275.1																																																																																				0.612	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	0	0	0	0	1	0	4	0				
USP28	57646	broad.mit.edu	37	11	113683227	113683227	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113683227C>T	ENST00000003302.4	-	16	1812		c.e16-1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATAAGGCACCTGTAAGTCAG	0.408																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e16-1		ubiquitin specific peptidase 28							85.0	86.0	85.0					11																	113683227		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683227C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1744-1G>A	11.37:g.113683227C>T						USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site		NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1812	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371341	0.61624	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	.	.	.	4.85	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6709	0.68942	0.1461:0.8538:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113188437	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.311000	0.78958	1.244000	0.43870	0.655000	0.94253	.		0.408	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	15	41	0	0	0	1	0	15	41				
DDX41	51428	broad.mit.edu	37	5	176939519	176939519	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176939519C>T	ENST00000507955.1	-	14	2050	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	509	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTCCTCTGGCATGTCATAAT	0.582																																						ENST00000507955.1																			0											c.(1525-1527)atG>atA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							89.0	79.0	82.0					5																	176939519		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939519C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1527G>A	5.37:g.176939519C>T	ENSP00000422753:p.Met509Ile						p.M509I	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		14	2050	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	509			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1527G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101926	0.94245	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.76060	-0.99;-0.99	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.038864	0.85682	D	0.000000	T	0.74989	0.3789	N	0.04669	-0.19	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81553	-0.0880	10	0.72032	D	0.01	-33.1533	20.4753	0.99175	0.0:1.0:0.0:0.0	.	509	Q9UJV9	DDX41_HUMAN	I	527;509	ENSP00000330349:M527I;ENSP00000422753:M509I	ENSP00000330349:M527I	M	-	3	0	DDX41	176872125	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.736000	0.84948	2.844000	0.97970	0.650000	0.86243	ATG		0.582	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		13	26	0	0	0	1	0	13	26				
HR	55806	broad.mit.edu	37	8	21979159	21979159	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21979159C>T	ENST00000381418.4	-	9	3650	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	HR_ENST00000312841.8_Missense_Mutation_p.G724S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	724					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGTGTCGCCATTGCAGGAA	0.562																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2170-2172)Ggc>Agc		hair growth associated							195.0	182.0	187.0					8																	21979159		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21979159C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2170G>A	8.37:g.21979159C>T	ENSP00000370826:p.Gly724Ser					HR_ENST00000312841.8_Missense_Mutation_p.G724S	p.G724S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	9	3650	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	724					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2170G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243043	0.58995	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72051	-0.61;-0.62	5.59	3.8	0.43715	.	0.492235	0.18666	N	0.134583	T	0.57021	0.2025	L	0.36672	1.1	0.21604	N	0.999621	P;P	0.42692	0.787;0.518	B;B	0.38428	0.273;0.141	T	0.44406	-0.9330	10	0.33141	T	0.24	-4.7234	9.0529	0.36387	0.0:0.8298:0.0:0.1702	.	724;724	O43593-2;O43593	.;HAIR_HUMAN	S	724	ENSP00000370826:G724S;ENSP00000326765:G724S	ENSP00000326765:G724S	G	-	1	0	HR	22035104	0.013000	0.17824	0.309000	0.25155	0.952000	0.60782	1.023000	0.30065	0.723000	0.32274	0.561000	0.74099	GGC		0.562	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			32	46	0	0	0	1	0	32	46				
ARPIN	348110	broad.mit.edu	37	15	90451581	90451581	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90451581C>T	ENST00000357484.5	-	3	352	c.232G>A	c.(232-234)Gga>Aga	p.G78R	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.G78R|C15orf38_ENST00000460685.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		78					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ATTTCATTTCCCTTGGCGTCG	0.587																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(232-234)Gga>Aga		chromosome 15 open reading frame 38							115.0	124.0	121.0					15																	90451581		2107	4218	6325	SO:0001583	missense	348110							g.chr15:90451581C>T																												ENST00000357484.5:c.232G>A	15.37:g.90451581C>T	ENSP00000350075:p.Gly78Arg					C15orf38_ENST00000460685.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.G78R	p.G78R	NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		3	352	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.232G>A	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262517	0.59431	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.68181	-0.31	5.44	4.52	0.55395	.	0.069935	0.56097	U	0.000031	T	0.63010	0.2475	L	0.42245	1.32	0.80722	D	1	P;B	0.43750	0.816;0.422	P;B	0.45343	0.477;0.231	T	0.66300	-0.5958	10	0.56958	D	0.05	-6.9451	12.3417	0.55097	0.0:0.9154:0.0:0.0846	.	78;78	Q7Z6K5;E2QRD5	CO038_HUMAN;.	R	78	ENSP00000381377:G78R	ENSP00000381377:G78R	G	-	1	0	C15orf38-AP3S2;C15orf38	88252585	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.489000	0.60309	2.542000	0.85734	0.551000	0.68910	GGA		0.587	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			13	19	0	0	0	1	0	13	19				
COL8A1	1295	broad.mit.edu	37	3	99513079	99513079	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:99513079C>T	ENST00000261037.3	+	5	714	c.334C>T	c.(334-336)Cca>Tca	p.P112S	COL8A1_ENST00000273342.4_Missense_Mutation_p.P112S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	112	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGTAGAAATACCATTAGCCAG	0.512																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(334-336)Cca>Tca		collagen, type VIII, alpha 1							51.0	54.0	53.0					3																	99513079		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513079C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.334C>T	3.37:g.99513079C>T	ENSP00000261037:p.Pro112Ser					COL8A1_ENST00000273342.4_Missense_Mutation_p.P112S	p.P112S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	714	+			112			Nonhelical region (NC2).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.334C>T	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198992	0.58126	.	.	ENSG00000144810	ENST00000261037;ENST00000452013;ENST00000273342	D;D	0.90955	-2.76;-2.76	5.48	5.48	0.80851	.	0.445092	0.22602	N	0.057941	D	0.88644	0.6492	L	0.31420	0.93	0.47862	D	0.999538	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	D	0.85614	0.1260	10	0.16420	T	0.52	.	16.849	0.85988	0.0:1.0:0.0:0.0	.	113;112	E7EPK9;P27658	.;CO8A1_HUMAN	S	112	ENSP00000261037:P112S;ENSP00000273342:P112S	ENSP00000261037:P112S	P	+	1	0	COL8A1	100995769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.089000	0.57685	2.583000	0.87209	0.655000	0.94253	CCA		0.512	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		3	7	0	0	0	1	0	3	7				
BPI	671	broad.mit.edu	37	20	36937458	36937458	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36937458C>A	ENST00000262865.4	+	3	473	c.384C>A	c.(382-384)ttC>ttA	p.F128L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	128					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAAAGAGATTCTTGTGCGTTT	0.488																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(382-384)ttC>ttA		bactericidal/permeability-increasing protein							184.0	148.0	160.0					20																	36937458		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36937458C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.384C>A	20.37:g.36937458C>A	ENSP00000262865:p.Phe128Leu					CTD-2308N23.2_ENST00000437016.1_RNA	p.F128L	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			3	473	+		Myeloproliferative disorder(115;0.00878)	128					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.384C>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672831	0.47781	.	.	ENSG00000101425	ENST00000262865	T	0.05925	3.37	3.99	3.0	0.34707	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.423942	0.21929	N	0.067045	T	0.07638	0.0192	M	0.80508	2.5	0.09310	N	1	P	0.46952	0.887	B	0.37601	0.254	T	0.26224	-1.0109	10	0.16896	T	0.51	-20.1887	6.9606	0.24595	0.0:0.8671:0.0:0.1329	.	128	P17213	BPI_HUMAN	L	128	ENSP00000262865:F128L	ENSP00000262865:F128L	F	+	3	2	BPI	36370872	0.123000	0.22298	0.086000	0.20670	0.000000	0.00434	0.659000	0.24994	1.193000	0.43086	-0.355000	0.07637	TTC		0.488	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		14	45	1	0	1.3612e-06	1	1.41782e-06	14	45				
ATE1	11101	broad.mit.edu	37	10	123600629	123600629	+	Silent	SNP	C	C	T	rs139300996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:123600629C>T	ENST00000224652.6	-	9	1210	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	ATE1_ENST00000540606.1_Silent_p.S368S|ATE1_ENST00000481784.1_5'Flank|ATE1_ENST00000535655.1_Silent_p.S76S|ATE1_ENST00000543447.1_Silent_p.S260S|ATE1_ENST00000369040.3_Silent_p.S279S|ATE1_ENST00000369043.3_Silent_p.S375S	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	375					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGACAAAAACGAATAATCAG	0.393																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1123-1125)tcG>tcA		arginyltransferase 1		C	,	0,4406		0,0,2203	90.0	72.0	78.0		1125,1125	-5.3	0.9	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATE1	NM_001001976.1,NM_007041.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/519,375/519	123600629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123600629C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1125G>A	10.37:g.123600629C>T						ATE1_ENST00000369040.3_Silent_p.S279S|ATE1_ENST00000543447.1_Silent_p.S260S|ATE1_ENST00000540606.1_Silent_p.S368S|ATE1_ENST00000224652.6_Silent_p.S375S|ATE1_ENST00000535655.1_Silent_p.S76S	p.S375S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			9	1211	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	375					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1125G>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237871	0.22711	0.0	1.16E-4	ENSG00000107669	ENST00000423243	.	.	.	5.64	-5.31	0.02730	.	.	.	.	.	T	0.38108	0.1028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	-19.3781	2.7073	0.05165	0.2104:0.2536:0.3955:0.1405	.	.	.	.	I	372	.	.	V	-	1	0	ATE1	123590619	0.137000	0.22531	0.894000	0.35097	0.857000	0.48899	-0.679000	0.05203	-0.902000	0.03886	-0.290000	0.09829	GTT		0.393	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		10	14	0	0	0	1	0	10	14				
TMEM200C	645369	broad.mit.edu	37	18	5890505	5890505	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5890505G>A	ENST00000581347.2	-	3	2203	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	RP11-945C19.4_ENST00000580845.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R520W|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	520						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCGGAGTCCCGCCTGGTGGGG	0.736																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(1558-1560)Cgg>Tgg		transmembrane protein 200C							7.0	9.0	8.0					18																	5890505		1716	3899	5615	SO:0001583	missense	645369					integral to membrane		g.chr18:5890505G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1558C>T	18.37:g.5890505G>A	ENSP00000463375:p.Arg520Trp					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R520W	p.R520W			A6NKL6	T200C_HUMAN			3	2203	-			520						Missense_Mutation	SNP	ENST00000581347.2	37	c.1558C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694804	0.68386	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.74	0.461	0.16689	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.19300	N	0.999974	D	0.64830	0.994	P	0.44477	0.451	T	0.13072	-1.0523	8	0.72032	D	0.01	.	3.2413	0.06782	0.0945:0.1116:0.2787:0.5153	.	520	A6NKL6	T200C_HUMAN	W	520	.	ENSP00000372982:R520W	R	-	1	2	TMEM200C	5880505	0.878000	0.30173	0.006000	0.13384	0.647000	0.38526	0.428000	0.21395	0.408000	0.25621	0.561000	0.74099	CGG		0.736	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		3	9	0	0	0	1	0	3	9				
PITPNM2	57605	broad.mit.edu	37	12	123472782	123472782	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123472782C>T	ENST00000542749.1	-	18	3059	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	PITPNM2_ENST00000320201.4_Splice_Site_p.R999Q|PITPNM2_ENST00000280562.5_Splice_Site_p.R993Q|PITPNM2_ENST00000392428.1_Splice_Site_p.R720Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	999					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GACCCTCACCCGCAGCTTCAC	0.622																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.e19+1		phosphatidylinositol transfer protein, membrane-associated 2							64.0	69.0	67.0					12																	123472782		2203	4300	6503	SO:0001630	splice_region_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472782C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2997+1G>A	12.37:g.123472782C>T						PITPNM2_ENST00000392428.1_Splice_Site_p.R720_splice|PITPNM2_ENST00000320201.4_Splice_Site_p.R999_splice|PITPNM2_ENST00000542749.1_Splice_Site_p.R999_splice	p.R993_splice			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3183	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Splice_Site	SNP	ENST00000542749.1	37	c.2979_splice	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	37	6.245880	0.97408	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.48522	1.14;1.14;0.81;1.14	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.64144	0.78;0.922	T	0.69595	-0.5103	10	0.62326	D	0.03	-39.9801	18.9357	0.92584	0.0:1.0:0.0:0.0	.	993;999	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	Q	993;999;720;999	ENSP00000280562:R993Q;ENSP00000322218:R999Q;ENSP00000376223:R720Q;ENSP00000437611:R999Q	ENSP00000280562:R993Q	R	-	2	0	PITPNM2	122038735	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.272000	0.78516	2.717000	0.92951	0.484000	0.47621	CGG		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	Missense_Mutation	34	60	0	0	0	1	0	34	60				
MFF	56947	broad.mit.edu	37	2	228195470	228195470	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:228195470C>T	ENST00000353339.3	+	4	608	c.167C>T	c.(166-168)gCa>gTa	p.A56V	MFF_ENST00000354503.6_Missense_Mutation_p.A30V|MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.A30V|MFF_ENST00000476924.1_Intron|MFF_ENST00000409616.1_Missense_Mutation_p.A30V|MFF_ENST00000349901.7_Missense_Mutation_p.A30V|MFF_ENST00000304593.9_Missense_Mutation_p.A30V|MFF_ENST00000409565.1_Missense_Mutation_p.A30V|MFF_ENST00000392059.1_Missense_Mutation_p.A56V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	56					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TTAAAAGTAGCACCGCCAAAC	0.438																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(166-168)gCa>gTa		mitochondrial fission factor							97.0	83.0	88.0					2																	228195470		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195470C>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.167C>T	2.37:g.228195470C>T	ENSP00000302037:p.Ala56Val					MFF_ENST00000392059.1_Missense_Mutation_p.A56V|MFF_ENST00000354503.6_Missense_Mutation_p.A30V|MFF_ENST00000409616.1_Missense_Mutation_p.A30V|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.A30V|MFF_ENST00000304593.9_Missense_Mutation_p.A30V|MFF_ENST00000409565.1_Missense_Mutation_p.A30V|MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.A30V	p.A56V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			4	608	+			56					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.167C>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704055	0.96812	.	.	ENSG00000168958	ENST00000423098;ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000525195;ENST00000349901;ENST00000443428;ENST00000418961;ENST00000392059	T;T;T	0.47869	1.41;0.83;1.41	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D;D	0.89917	0.909;1.0;0.998;1.0;0.999;0.999	P;D;D;D;D;D	0.91635	0.65;0.999;0.957;0.998;0.997;0.985	T	0.63028	-0.6728	10	0.28530	T	0.3	-21.4612	20.063	0.97692	0.0:1.0:0.0:0.0	.	30;30;30;30;30;56	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	V	30;30;56;30;30;30;30;30;30;30;56;30;56	ENSP00000302037:A56V;ENSP00000391829:A56V;ENSP00000375912:A56V	ENSP00000304898:A30V	A	+	2	0	MFF	227903714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.741000	0.93983	0.650000	0.86243	GCA		0.438	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		16	24	0	0	0	1	0	16	24				
ARL5B	221079	broad.mit.edu	37	10	18962969	18962969	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:18962969T>C	ENST00000377275.3	+	5	629	c.396T>C	c.(394-396)tgT>tgC	p.C132C		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	132					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						TGAAAGGGTGTATGACAGCAG	0.398																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(394-396)tgT>tgC		ADP-ribosylation factor-like 5B							133.0	116.0	122.0					10																	18962969		2203	4300	6503	SO:0001819	synonymous_variant	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18962969T>C	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.396T>C	10.37:g.18962969T>C							p.C132C	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			5	629	+			132						Silent	SNP	ENST00000377275.3	37	c.396T>C	CCDS7131.1																																																																																				0.398	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		17	34	0	0	0	1	0	17	34				
SAPCD1	401251	broad.mit.edu	37	6	31731263	31731263	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31731263C>T	ENST00000425424.1	+	2	245	c.186C>T	c.(184-186)ggC>ggT	p.G62G	MSH5-SAPCD1_ENST00000493662.2_3'UTR|VWA7_ENST00000467576.1_5'Flank|MSH5_ENST00000534153.4_3'UTR|SAPCD1_ENST00000415669.2_Silent_p.G62G|SAPCD1-AS1_ENST00000419679.1_RNA			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	62																	TACAGCATGGCCAGGCCTGGT	0.607																																						ENST00000415669.2																			0											c.(184-186)ggC>ggT		suppressor APC domain containing 1							84.0	83.0	83.0					6																	31731263		1509	2709	4218	SO:0001819	synonymous_variant	401251							g.chr6:31731263C>T		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.186C>T	6.37:g.31731263C>T						MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000425424.1_Silent_p.G62G|MSH5_ENST00000534153.4_3'UTR	p.G62G	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN			2	245	+			62					A2ABF2|A2ABS9|Q9Y335	Silent	SNP	ENST00000425424.1	37	c.186C>T																																																																																					0.607	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding		NM_001039651		5	55	0	0	0	1	0	5	55				
SALL4	57167	broad.mit.edu	37	20	50401076	50401076	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50401076C>T	ENST00000217086.4	-	4	3001	c.2890G>A	c.(2890-2892)Gtg>Atg	p.V964M	SALL4_ENST00000371539.3_Missense_Mutation_p.V187M|SALL4_ENST00000395997.3_Missense_Mutation_p.V527M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	964					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGGGTCCACATTCACTGAA	0.522																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2890-2892)Gtg>Atg		spalt-like transcription factor 4							123.0	106.0	112.0					20																	50401076		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401076C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2890G>A	20.37:g.50401076C>T	ENSP00000217086:p.Val964Met					SALL4_ENST00000395997.3_Missense_Mutation_p.V527M|SALL4_ENST00000371539.3_Missense_Mutation_p.V187M	p.V964M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3001	-			964					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2890G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	5.883	0.347019	0.11126	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.45276	0.9;0.9;0.9	4.8	-3.95	0.04118	.	0.792782	0.10703	N	0.643780	T	0.27629	0.0679	L	0.33339	1.005	0.18873	N	0.999989	B;B;B	0.21905	0.007;0.016;0.062	B;B;B	0.21360	0.004;0.015;0.034	T	0.29518	-1.0009	10	0.48119	T	0.1	-12.0575	8.8008	0.34907	0.0:0.1857:0.1801:0.6342	.	527;187;964	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	M	964;527;187	ENSP00000217086:V964M;ENSP00000379319:V527M;ENSP00000360594:V187M	ENSP00000217086:V964M	V	-	1	0	SALL4	49834483	0.884000	0.30299	0.027000	0.17364	0.100000	0.18952	0.085000	0.14912	-0.349000	0.08274	-0.367000	0.07326	GTG		0.522	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			40	52	0	0	0	1	0	40	52				
PFAS	5198	broad.mit.edu	37	17	8167112	8167112	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8167112A>T	ENST00000314666.6	+	15	1782	c.1649A>T	c.(1648-1650)aAt>aTt	p.N550I	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N126I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	550					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCAACCCTGAATGCCCTGGAA	0.587																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1648-1650)aAt>aTt		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						62.0	64.0	63.0					17																	8167112		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167112A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1649A>T	17.37:g.8167112A>T	ENSP00000313490:p.Asn550Ile					PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.N126I	p.N550I	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			15	1782	+			550					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1649A>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600184	0.87055	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.32023	1.47;1.47	5.84	4.77	0.60923	AIR synthase-related protein, C-terminal (2);	0.054684	0.85682	D	0.000000	T	0.43853	0.1266	M	0.64404	1.975	0.43947	D	0.996615	D	0.54397	0.966	P	0.59546	0.859	T	0.43180	-0.9407	10	0.87932	D	0	-17.8128	6.5519	0.22438	0.8318:0.0:0.1682:0.0	.	550	O15067	PUR4_HUMAN	I	126;550	ENSP00000441706:N126I;ENSP00000313490:N550I	ENSP00000313490:N550I	N	+	2	0	PFAS	8107837	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.152000	0.58111	2.234000	0.73211	0.460000	0.39030	AAT		0.587	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			16	33	0	0	0	1	0	16	33				
FHDC1	85462	broad.mit.edu	37	4	153875374	153875374	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153875374C>A	ENST00000511601.1	+	4	754	c.566C>A	c.(565-567)cCt>cAt	p.P189H	FHDC1_ENST00000260008.3_Missense_Mutation_p.P189H			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	189	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCAAGGTCTCCTCGGTCCATT	0.428																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(565-567)cCt>cAt		FH2 domain containing 1							87.0	88.0	88.0					4																	153875374		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153875374C>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.566C>A	4.37:g.153875374C>A	ENSP00000427567:p.Pro189His					FHDC1_ENST00000260008.3_Missense_Mutation_p.P189H	p.P189H			Q9C0D6	FHDC1_HUMAN			4	754	+	all_hematologic(180;0.093)		189			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.566C>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281283	0.59758	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.18016	2.24;2.24	5.9	5.9	0.94986	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.343652	0.33792	N	0.004553	T	0.34774	0.0909	L	0.56396	1.775	0.27612	N	0.948624	D	0.89917	1.0	D	0.72982	0.979	T	0.18650	-1.0330	10	0.15952	T	0.53	.	14.4296	0.67240	0.0:0.93:0.0:0.07	.	189	Q9C0D6	FHDC1_HUMAN	H	189	ENSP00000427567:P189H;ENSP00000260008:P189H	ENSP00000260008:P189H	P	+	2	0	FHDC1	154094824	0.995000	0.38212	1.000000	0.80357	0.961000	0.63080	3.254000	0.51477	2.797000	0.96272	0.655000	0.94253	CCT		0.428	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		24	20	1	0	5.35356e-11	1	5.74024e-11	24	20				
PAK2	5062	broad.mit.edu	37	3	196547287	196547287	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196547287G>A	ENST00000327134.3	+	13	1521	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CAGAGCAAACGCAGTACCATG	0.483																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(1198-1200)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 2							125.0	113.0	117.0					3																	196547287		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196547287G>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1199G>A	3.37:g.196547287G>A	ENSP00000314067:p.Arg400His						p.R400H	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	13	1521	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		400			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.1199G>A	CCDS3321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.694319|4.694319	0.88830|0.88830	.|.	.|.	ENSG00000180370|ENSG00000180370	ENST00000426668|ENST00000327134	.|T	.|0.65178	.|-0.14	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.056303	.|0.64402	.|D	.|0.000001	T|T	0.76912|0.76912	0.4054|0.4054	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.79410|0.79410	-0.1815|-0.1815	5|10	.|0.87932	.|D	.|0	.|.	18.1858|18.1858	0.89792|0.89792	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|400	.|Q13177	.|PAK2_HUMAN	T|H	143|400	.|ENSP00000314067:R400H	.|ENSP00000314067:R400H	A|R	+|+	1|2	0|0	PAK2|PAK2	198031684|198031684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.208000|9.208000	0.95075|0.95075	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.483	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	46	0	0	0	1	0	10	46				
CAMK2D	817	broad.mit.edu	37	4	114424106	114424106	+	Intron	SNP	G	G	A	rs184472809		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114424106G>A	ENST00000342666.5	-	14	984				CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000394522.3_Missense_Mutation_p.P338S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P338S|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000429180.1_Intron|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000454265.2_Missense_Mutation_p.P349S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000379773.2_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTCCATCAGGGTTGTGGATT	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20656	0.0		0.0	False		,,,				2504	0.0					ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(1045-1047)Cct>Tct		calcium/calmodulin-dependent protein kinase II delta							179.0	155.0	162.0					4																	114424106		1568	3582	5150	SO:0001627	intron_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114424106G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.985-2439C>T	4.37:g.114424106G>A						CAMK2D_ENST00000429180.1_Intron|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000342666.5_Intron|CAMK2D_ENST00000379773.2_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000394522.3_Missense_Mutation_p.P338S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P358S|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P338S|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000296402.5_Intron	p.P349S			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	15	1903	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	327					A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.1045C>T	CCDS3703.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.551335	0.45383	.	.	ENSG00000145349	ENST00000454265;ENST00000418639;ENST00000511664;ENST00000394522;ENST00000505990	T;T;T;T;T	0.67698	-0.21;-0.18;-0.28;-0.24;-0.26	5.39	5.39	0.77823	.	.	.	.	.	T	0.57519	0.2059	L	0.45581	1.43	0.80722	D	1	B;P	0.38504	0.0;0.634	B;B	0.31101	0.0;0.124	T	0.56613	-0.7950	9	0.15066	T	0.55	.	19.5232	0.95194	0.0:0.0:1.0:0.0	.	358;338	E9PF82;Q13557-6	.;.	S	349;338;358;338;358	ENSP00000415248:P349S;ENSP00000406131:P338S;ENSP00000425824:P358S;ENSP00000378030:P338S;ENSP00000424245:P358S	ENSP00000378030:P338S	P	-	1	0	CAMK2D	114643555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.835000	0.86780	2.677000	0.91161	0.655000	0.94253	CCT		0.343	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			13	24	0	0	0	1	0	13	24				
RC3H1	149041	broad.mit.edu	37	1	173910517	173910517	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:173910517T>C	ENST00000367696.2	-	19	3488	c.3137A>G	c.(3136-3138)gAa>gGa	p.E1046G	RC3H1_ENST00000258349.4_Splice_Site_p.E1046G|RC3H1_ENST00000367694.2_Splice_Site_p.E1037G			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1046					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACACTGGTTTTCCTTTGAAAG	0.363																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.e19-1		ring finger and CCCH-type domains 1							211.0	180.0	191.0					1																	173910517		2203	4300	6503	SO:0001630	splice_region_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173910517T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3136-1A>G	1.37:g.173910517T>C						RC3H1_ENST00000367694.2_Splice_Site_p.E1037_splice|RC3H1_ENST00000258349.4_Splice_Site_p.E1046_splice	p.E1046_splice			Q5TC82	RC3H1_HUMAN			19	3488	-			1046					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Splice_Site	SNP	ENST00000367696.2	37	c.3135_splice	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390807	0.62066	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.56103	0.49;0.49;0.48	5.94	5.94	0.96194	.	0.048001	0.85682	D	0.000000	T	0.52500	0.1738	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.80764	0.986;0.986;0.994;0.986	T	0.57260	-0.7842	10	0.48119	T	0.1	-18.8136	16.3985	0.83631	0.0:0.0:0.0:1.0	.	1046;1037;1037;1046	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	G	1046;1046;1037	ENSP00000356669:E1046G;ENSP00000258349:E1046G;ENSP00000356667:E1037G	ENSP00000258349:E1046G	E	-	2	0	RC3H1	172177140	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.378000	0.73150	2.274000	0.75844	0.519000	0.50382	GAA		0.363	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	Missense_Mutation	8	57	0	0	0	1	0	8	57				
OGDHL	55753	broad.mit.edu	37	10	50955174	50955174	+	Silent	SNP	C	C	T	rs562281972		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50955174C>T	ENST00000374103.4	-	9	1153	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	OGDHL_ENST00000432695.1_Silent_p.S147S|OGDHL_ENST00000419399.1_Silent_p.S299S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	356					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGCAACCAGCGACAGAGTGA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23408	0.0		0.0	False		,,,				2504	0.0					ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1066-1068)tcG>tcA		oxoglutarate dehydrogenase-like							245.0	214.0	224.0					10																	50955174		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955174C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1068G>A	10.37:g.50955174C>T						OGDHL_ENST00000419399.1_Silent_p.S299S|OGDHL_ENST00000432695.1_Silent_p.S147S	p.S356S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			9	1153	-			356					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1068G>A	CCDS7234.1																																																																																				0.597	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		18	40	0	0	0	1	0	18	40				
HCFC1	3054	broad.mit.edu	37	X	153220570	153220570	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153220570C>T	ENST00000310441.7	-	17	4246	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1025T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1094T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1094					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					Ttggaggtggcggtggtggcg	0.652																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3280-3282)Gcc>Acc		host cell factor C1 (VP16-accessory protein)							34.0	42.0	40.0					X																	153220570		2170	4257	6427	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153220570C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3280G>A	X.37:g.153220570C>T	ENSP00000309555:p.Ala1094Thr					HCFC1_ENST00000369984.4_Missense_Mutation_p.A1094T|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1025T	p.A1094T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4246	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1094					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.3280G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022042	0.75275	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.08458	3.23;3.18;3.09	4.9	4.9	0.64082	.	0.166532	0.52532	D	0.000078	T	0.07052	0.0179	L	0.47190	1.495	0.43628	D	0.996015	P	0.46912	0.886	B	0.29663	0.105	T	0.43163	-0.9408	10	0.22706	T	0.39	.	15.9967	0.80256	0.0:1.0:0.0:0.0	.	1094	P51610	HCFC1_HUMAN	T	1094;1094;1025	ENSP00000309555:A1094T;ENSP00000359001:A1094T;ENSP00000346174:A1025T	ENSP00000309555:A1094T	A	-	1	0	HCFC1	152873764	0.581000	0.26741	0.993000	0.49108	0.946000	0.59487	2.039000	0.41193	2.024000	0.59613	0.525000	0.51046	GCC		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		19	3	0	0	0	1	0	19	3				
PSMD12	5718	broad.mit.edu	37	17	65343566	65343566	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65343566T>C	ENST00000356126.3	-	6	653	c.546A>G	c.(544-546)cgA>cgG	p.R182R	PSMD12_ENST00000581618.1_5'Flank|PSMD12_ENST00000357146.4_Silent_p.R162R	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	182					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAAATTCCACTCGCTCTTTCT	0.363																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(544-546)cgA>cgG		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							98.0	94.0	95.0					17																	65343566		2203	4300	6503	SO:0001819	synonymous_variant	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65343566T>C	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.546A>G	17.37:g.65343566T>C						PSMD12_ENST00000357146.4_Silent_p.R162R	p.R182R	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			6	653	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		182					A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	37	c.546A>G	CCDS11669.1																																																																																				0.363	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		15	43	0	0	0	1	0	15	43				
SLC8A2	6543	broad.mit.edu	37	19	47941165	47941165	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47941165G>A	ENST00000236877.6	-	7	2346	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	SLC8A2_ENST00000539381.1_Missense_Mutation_p.P114S|SLC8A2_ENST00000542837.1_Missense_Mutation_p.P407S|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	651					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCAAGAACTGGCTTGCCCATC	0.582																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1951-1953)Cca>Tca		solute carrier family 8 (sodium/calcium exchanger), member 2							120.0	116.0	117.0					19																	47941165		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47941165G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1951C>T	19.37:g.47941165G>A	ENSP00000236877:p.Pro651Ser					SLC8A2_ENST00000542837.1_Missense_Mutation_p.P407S|SLC8A2_ENST00000539381.1_Missense_Mutation_p.P114S|SLC8A2_ENST00000601757.1_5'UTR	p.P651S	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	7	2346	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	651					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.1951C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997918	0.74818	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.27720	1.65;1.65;1.65	2.54	2.54	0.30619	.	0.000000	0.64402	U	0.000003	T	0.60064	0.2240	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71066	-0.4700	10	0.87932	D	0	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	479;651	E9PGS7;Q9UPR5	.;NAC2_HUMAN	S	479;651;114;407	ENSP00000236877:P651S;ENSP00000440588:P114S;ENSP00000437536:P407S	ENSP00000236877:P651S	P	-	1	0	SLC8A2	52632977	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.532000	0.98057	1.751000	0.51876	0.456000	0.33151	CCA		0.582	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			39	78	0	0	0	1	0	39	78				
ANKAR	150709	broad.mit.edu	37	2	190603353	190603353	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190603353T>C	ENST00000520309.1	+	19	3733	c.3645T>C	c.(3643-3645)gtT>gtC	p.V1215V	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1144V|ANKAR_ENST00000313581.4_Silent_p.V1215V|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1215						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CAAGAGGTGTTACTATTTTAG	0.323																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3643-3645)gtT>gtC		ankyrin and armadillo repeat containing							158.0	156.0	157.0					2																	190603353		2202	4299	6501	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190603353T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3645T>C	2.37:g.190603353T>C						ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1144V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.V1215V	p.V1215V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3733	+			1215					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3645T>C	CCDS33351.2																																																																																				0.323	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		6	59	0	0	0	1	0	6	59				
TRPC3	7222	broad.mit.edu	37	4	122828495	122828495	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122828495A>G	ENST00000379645.3	-	7	2093	c.2020T>C	c.(2020-2022)Tac>Cac	p.Y674H	TRPC3_ENST00000513531.1_Missense_Mutation_p.Y546H|TRPC3_ENST00000264811.5_Missense_Mutation_p.Y601H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	589					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAAGGTAGTAAGAATAAAGT	0.343																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1801-1803)Tac>Cac		transient receptor potential cation channel, subfamily C, member 3							123.0	129.0	127.0					4																	122828495		2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122828495A>G	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2020T>C	4.37:g.122828495A>G	ENSP00000368966:p.Tyr674His					TRPC3_ENST00000379645.3_Missense_Mutation_p.Y674H|TRPC3_ENST00000513531.1_Missense_Mutation_p.Y546H	p.Y601H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			6	2219	-			589					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1801T>C	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495731	0.85069	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98531	-4.98;-4.98;-4.98	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98735	0.9575	M	0.83852	2.665	0.58432	D	0.99999	P;P;P	0.49961	0.605;0.921;0.93	P;P;P	0.59357	0.599;0.856;0.819	D	0.99497	1.0952	10	0.62326	D	0.03	-7.369	15.6116	0.76727	1.0:0.0:0.0:0.0	.	589;546;674	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	601;674;546	ENSP00000264811:Y601H;ENSP00000368966:Y674H;ENSP00000426899:Y546H	ENSP00000264811:Y601H	Y	-	1	0	TRPC3	123047945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.079000	0.62486	0.533000	0.62120	TAC		0.343	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		4	186	0	0	0	1	0	4	186				
PARD3B	117583	broad.mit.edu	37	2	206305231	206305231	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:206305231G>A	ENST00000406610.2	+	20	3086	c.2879G>A	c.(2878-2880)cGg>cAg	p.R960Q	PARD3B_ENST00000358768.2_Missense_Mutation_p.R898Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R891Q|PARD3B_ENST00000349953.3_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	960					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.R898L(1)|p.R899L(1)|p.R891L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AACCACTTTCGGGAACCATGC	0.473																																						ENST00000406610.2																			3	Substitution - Missense(3)	p.R898L(1)|p.R899L(1)|p.R891L(1)	lung(3)	breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2878-2880)cGg>cAg		par-3 family cell polarity regulator beta							186.0	185.0	186.0					2																	206305231		2019	4175	6194	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206305231G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2879G>A	2.37:g.206305231G>A	ENSP00000385848:p.Arg960Gln					PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.R898Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R891Q	p.R960Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	20	3086	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	960					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2879G>A		.	.	.	.	.	.	.	.	.	.	G	16.93	3.256831	0.59321	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153	T;T;T	0.34472	1.36;1.36;1.36	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000053	T	0.49712	0.1573	L	0.51422	1.61	0.80722	D	1	B;D;D	0.89917	0.002;0.984;1.0	B;P;D	0.64687	0.003;0.461;0.928	T	0.27706	-1.0066	10	0.30078	T	0.28	.	13.0677	0.59043	0.0738:0.0:0.9262:0.0	.	960;891;898	Q8TEW8;E9PE87;Q8TEW8-2	PAR3L_HUMAN;.;.	Q	960;898;891	ENSP00000385848:R960Q;ENSP00000351618:R898Q;ENSP00000317261:R891Q	ENSP00000317261:R891Q	R	+	2	0	PARD3B	206013476	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.154000	0.50693	2.755000	0.94549	0.591000	0.81541	CGG		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		22	88	0	0	0	1	0	22	88				
TNFRSF11A	8792	broad.mit.edu	37	18	60021739	60021739	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:60021739C>T	ENST00000586569.1	+	4	437	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TNFRSF11A_ENST00000269485.7_Silent_p.C133C	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	133					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ACACCGAGTGCGCGCCGGGCC	0.677																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(397-399)tgC>tgT		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							25.0	30.0	28.0					18																	60021739		2125	4185	6310	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60021739C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.399C>T	18.37:g.60021739C>T						TNFRSF11A_ENST00000269485.7_Silent_p.C133C	p.C133C	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			4	437	+		Colorectal(73;0.188)	133					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.399C>T	CCDS11980.1																																																																																				0.677	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			18	22	0	0	0	1	0	18	22				
MACF1	23499	broad.mit.edu	37	1	39801166	39801166	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39801166C>T	ENST00000372915.3	+	36	9008	c.8921C>T	c.(8920-8922)gCt>gTt	p.A2974V	MACF1_ENST00000564288.1_Missense_Mutation_p.A2969V|MACF1_ENST00000289893.4_Missense_Mutation_p.A1409V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A3006V|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2974					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAATGAATGCTCGGGTGAAA	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8905-8907)gCt>gTt		microtubule-actin crosslinking factor 1							58.0	60.0	59.0					1																	39801166		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801166C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8921C>T	1.37:g.39801166C>T	ENSP00000362006:p.Ala2974Val					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A3006V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.A2974V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A1409V|MACF1_ENST00000545844.1_Intron	p.A2969V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9683	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2974					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8906C>T		.	.	.	.	.	.	.	.	.	.	C	2.307	-0.358870	0.05138	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60424	0.19;1.33	5.2	0.965	0.19661	.	0.924364	0.09016	N	0.860822	T	0.26412	0.0645	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24693	-1.0153	10	0.02654	T	1	.	6.414	0.21705	0.0:0.5171:0.0:0.4829	.	2974	Q9UPN3	MACF1_HUMAN	V	2974;1409	ENSP00000362006:A2974V;ENSP00000289893:A1409V	ENSP00000289893:A1409V	A	+	2	0	MACF1	39573753	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.280000	0.18790	0.225000	0.20959	0.467000	0.42956	GCT		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		27	31	0	0	0	1	0	27	31				
JAKMIP1	152789	broad.mit.edu	37	4	6114627	6114627	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6114627C>T	ENST00000282924.5	-	0	436				JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000409021.3_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000409371.3_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000410077.2_De_novo_Start_OutOfFrame	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1						cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCTGTTCACGCACGCCAGC	0.627																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42								janus kinase and microtubule interacting protein 1							39.0	28.0	32.0					4																	6114627		2203	4300	6503			152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114627C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.-50G>A	4.37:g.6114627C>T						JAKMIP1_ENST00000410077.2_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000282924.5_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_De_novo_Start_OutOfFrame|JAKMIP1_ENST00000409831.1_De_novo_Start_OutOfFrame		NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			0	400	-								A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Translation_Start_Site	SNP	ENST00000282924.5	37		CCDS3385.1																																																																																				0.627	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		7	9	0	0	0	1	0	7	9				
CYFIP2	26999	broad.mit.edu	37	5	156816239	156816239	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156816239C>T	ENST00000521420.1	+	28	3263	c.3172C>T	c.(3172-3174)Cgg>Tgg	p.R1058W	CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084W|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109W|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783W|CYFIP2_ENST00000347377.6_Missense_Mutation_p.R1084W|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009W|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCAAGGAGCGGCTGTGCTG	0.602																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3250-3252)Cgg>Tgg		cytoplasmic FMR1 interacting protein 2							65.0	73.0	70.0					5																	156816239		2184	4291	6475	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816239C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3172C>T	5.37:g.156816239C>T	ENSP00000430904:p.Arg1058Trp					CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888W|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084W|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009W|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1058W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783W|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109W	p.R1084W	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		29	3681	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1109						Missense_Mutation	SNP	ENST00000521420.1	37	c.3250C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863592	0.91511	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.991;0.999;0.978	T	0.62849	-0.6767	10	0.66056	D	0.02	-27.9853	14.764	0.69626	0.1451:0.8549:0.0:0.0	.	948;888;1058;1084;1084;1109	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	W	1109;888;1058;1084;1084;1009;783	ENSP00000325817:R1109W;ENSP00000428009:R888W;ENSP00000430904:R1058W;ENSP00000313567:R1084W;ENSP00000366799:R1084W;ENSP00000444645:R1009W;ENSP00000403793:R783W	ENSP00000325817:R1109W	R	+	1	2	CYFIP2	156748817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.784000	0.55416	2.579000	0.87056	0.655000	0.94253	CGG		0.602	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		30	29	0	0	0	1	0	30	29				
PCBP2	5094	broad.mit.edu	37	12	53865443	53865443	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53865443C>T	ENST00000439930.3	+	13	935	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	PCBP2_ENST00000549863.1_Missense_Mutation_p.R261C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275C|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262C			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CATAATCGGGCGTCAAGGCGC	0.498																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(913-915)Cgt>Tgt		poly(rC) binding protein 2							52.0	42.0	45.0					12																	53865443		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53865443C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.913C>T	12.37:g.53865443C>T	ENSP00000408949:p.Arg305Cys					PCBP2_ENST00000552819.1_Missense_Mutation_p.R262C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R305C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271C	p.R305C	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			14	1263	+			305			KH 3.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.913C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493318	0.64186	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.12	5.12	0.69794	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.95004	3.61	0.80722	D	1	B;B;B;B;B;P;B;B;B;B	0.43938	0.004;0.124;0.009;0.127;0.022;0.822;0.124;0.047;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.38655	0.007;0.124;0.047;0.046;0.128;0.278;0.038;0.07;0.064;0.047	T	0.70565	-0.4837	10	0.72032	D	0.01	.	17.4826	0.87677	0.0:1.0:0.0:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	C	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271C;ENSP00000394116:R275C;ENSP00000390304:R258C;ENSP00000408949:R305C;ENSP00000447670:R261C;ENSP00000352438:R306C;ENSP00000448762:R302C;ENSP00000448927:R301C;ENSP00000449070:R262C;ENSP00000388008:R258C;ENSP00000449062:R275C	ENSP00000352228:R271C	R	+	1	0	PCBP2	52151710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.449000	0.44935	2.664000	0.90586	0.650000	0.86243	CGT		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		15	18	0	0	0	1	0	15	18				
KCNK1	3775	broad.mit.edu	37	1	233802347	233802347	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:233802347G>A	ENST00000366621.3	+	2	530	c.362G>A	c.(361-363)gGc>gAc	p.G121D	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.G5D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	121					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GCAGGTTATGGCCACACCGTG	0.502																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(361-363)gGc>gAc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						165.0	118.0	134.0					1																	233802347		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802347G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.362G>A	1.37:g.233802347G>A	ENSP00000355580:p.Gly121Asp					KCNK1_ENST00000366620.1_Missense_Mutation_p.G5D|KCNK1_ENST00000472190.1_3'UTR	p.G121D	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	530	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	121					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.362G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374543	0.95923	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	D;T;T	0.82893	-1.66;-0.92;-0.92	5.91	5.91	0.95273	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94917	0.8070	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	121	O00180	KCNK1_HUMAN	D	121;5;39	ENSP00000355580:G121D;ENSP00000355579:G5D;ENSP00000409626:G39D	ENSP00000355579:G5D	G	+	2	0	KCNK1	231868970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.793000	0.96121	0.655000	0.94253	GGC		0.502	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		18	13	0	0	0	1	0	18	13				
FGD1	2245	broad.mit.edu	37	X	54475340	54475340	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:54475340T>C	ENST00000375135.3	-	16	3068	c.2335A>G	c.(2335-2337)Aac>Gac	p.N779D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	779					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CACACACGGTTGGAGCGGTTG	0.627																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2335-2337)Aac>Gac		FYVE, RhoGEF and PH domain containing 1							62.0	45.0	51.0					X																	54475340		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54475340T>C	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2335A>G	X.37:g.54475340T>C	ENSP00000364277:p.Asn779Asp						p.N779D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			16	3068	-			779					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2335A>G	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120327	0.56613	.	.	ENSG00000102302	ENST00000375135	T	0.10960	2.82	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000015	T	0.11153	0.0272	N	0.17631	0.505	0.38952	D	0.95836	B	0.33549	0.417	B	0.40982	0.345	T	0.19943	-1.0290	10	0.59425	D	0.04	-18.1089	13.4958	0.61426	0.0:0.0:0.0:1.0	.	779	P98174	FGD1_HUMAN	D	779	ENSP00000364277:N779D	ENSP00000364277:N779D	N	-	1	0	FGD1	54492065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.225000	0.58600	1.830000	0.53286	0.417000	0.27973	AAC		0.627	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		5	0	0	0	0	1	0	5	0				
NEK6	10783	broad.mit.edu	37	9	127088703	127088703	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127088703G>A	ENST00000320246.5	+	6	645	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NEK6_ENST00000373600.3_Missense_Mutation_p.R201Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q|NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q|NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CATTCACGCCGGGTGATGCAC	0.622																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(601-603)cGg>cAg		NIMA-related kinase 6							73.0	64.0	67.0					9																	127088703		2203	4300	6503	SO:0001583	missense	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127088703G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.500G>A	9.37:g.127088703G>A	ENSP00000319734:p.Arg167Gln					NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000320246.5_Missense_Mutation_p.R167Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q|NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q	p.R201Q	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			7	817	+			167			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	c.602G>A	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562686	0.96527	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	3.12;3.12;3.12;3.12;3.12;1.82;1.05;3.12;1.82;3.12;3.12;1.82;3.12;3.12	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.42686	1.345	0.80722	D	1	P;D;D;D	0.58970	0.923;0.984;0.964;0.957	P;P;P;P	0.53722	0.63;0.733;0.73;0.493	T	0.48115	-0.9063	10	0.59425	D	0.04	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	192;201;167;185	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	167;185;201;167;99;167;167;99;167;167;201;167;167;192;167	ENSP00000362705:R167Q;ENSP00000441469:R185Q;ENSP00000362702:R201Q;ENSP00000319734:R167Q;ENSP00000442636:R167Q;ENSP00000389517:R167Q;ENSP00000405215:R99Q;ENSP00000362698:R167Q;ENSP00000403087:R167Q;ENSP00000377749:R201Q;ENSP00000441426:R167Q;ENSP00000411401:R167Q;ENSP00000439651:R192Q;ENSP00000403414:R167Q	ENSP00000319734:R167Q	R	+	2	0	NEK6	126128524	1.000000	0.71417	0.515000	0.27774	0.869000	0.49853	9.274000	0.95731	2.840000	0.97914	0.655000	0.94253	CGG		0.622	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		18	26	0	0	0	1	0	18	26				
MXRA5	25878	broad.mit.edu	37	X	3235284	3235284	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:3235284C>T	ENST00000217939.6	-	6	6592	c.6438G>A	c.(6436-6438)gcG>gcA	p.A2146A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2146	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGTGATGCGCGCGTTGGCTG	0.706																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6436-6438)gcG>gcA		matrix-remodelling associated 5							31.0	25.0	27.0					X																	3235284		2202	4299	6501	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235284C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6438G>A	X.37:g.3235284C>T							p.A2146A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6592	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2146			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6438G>A	CCDS14124.1																																																																																				0.706	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	2	0	0	0	1	0	5	2				
SFSWAP	6433	broad.mit.edu	37	12	132250710	132250710	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132250710C>T	ENST00000261674.4	+	13	2140	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	SFSWAP_ENST00000541286.1_Silent_p.L667L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	667					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCGGGAAAAGCTGGCCCAGGC	0.443																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1999-2001)Ctg>Ttg		splicing factor, suppressor of white-apricot homolog (Drosophila)							103.0	118.0	113.0					12																	132250710		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132250710C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1999C>T	12.37:g.132250710C>T						SFSWAP_ENST00000541286.1_Silent_p.L667L	p.L667L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			13	2140	+			667					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.1999C>T	CCDS9273.1																																																																																				0.443	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		5	121	0	0	0	1	0	5	121				
CEP250	11190	broad.mit.edu	37	20	34099321	34099321	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34099321G>A	ENST00000397527.1	+	35	7915	c.7195G>A	c.(7195-7197)Gcc>Acc	p.A2399T	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTTGCCGTGGCCCAGGCCCC	0.632																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7195-7197)Gcc>Acc		centrosomal protein 250kDa							56.0	53.0	54.0					20																	34099321		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099321G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7195G>A	20.37:g.34099321G>A	ENSP00000380661:p.Ala2399Thr					CEP250_ENST00000342580.4_Missense_Mutation_p.A2343T	p.A2399T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7915	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2399					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7195G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721968	0.68959	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.53423	2.59;2.56;0.62	4.41	4.41	0.53225	.	0.253385	0.28187	N	0.016275	T	0.66086	0.2754	M	0.75447	2.3	0.29660	N	0.843286	D	0.89917	1.0	D	0.87578	0.998	T	0.64351	-0.6428	10	0.54805	T	0.06	.	11.7642	0.51920	0.0875:0.0:0.9125:0.0	.	2399	Q9BV73	CP250_HUMAN	T	2399;2343;834	ENSP00000380661:A2399T;ENSP00000341541:A2343T;ENSP00000395992:A834T	ENSP00000341541:A2343T	A	+	1	0	CEP250	33562735	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.689000	0.46993	2.303000	0.77524	0.655000	0.94253	GCC		0.632	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	29	0	0	0	1	0	5	29				
PTHLH	5744	broad.mit.edu	37	12	28116656	28116656	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:28116656G>A	ENST00000545234.1	-	5	689	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PTHLH_ENST00000539239.1_Missense_Mutation_p.S50F|PTHLH_ENST00000201015.4_Missense_Mutation_p.S50F|PTHLH_ENST00000354417.3_Missense_Mutation_p.S50F|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.S50F|PTHLH_ENST00000395868.3_Missense_Mutation_p.S50F|PTHLH_ENST00000535992.1_Missense_Mutation_p.S50F|PTHLH_ENST00000395872.1_Missense_Mutation_p.S50F			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	50					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					ATCTTGGATGGACTTCCCCTT	0.443																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(148-150)tCc>tTc		parathyroid hormone-like hormone							134.0	133.0	134.0					12																	28116656		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116656G>A		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.149C>T	12.37:g.28116656G>A	ENSP00000441765:p.Ser50Phe					PTHLH_ENST00000395868.3_Missense_Mutation_p.S50F|PTHLH_ENST00000395872.1_Missense_Mutation_p.S50F|PTHLH_ENST00000201015.4_Missense_Mutation_p.S50F|PTHLH_ENST00000538310.1_Missense_Mutation_p.S50F|PTHLH_ENST00000539239.1_Missense_Mutation_p.S50F|PTHLH_ENST00000354417.3_Missense_Mutation_p.S50F|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.S50F	p.S50F			P12272	PTHR_HUMAN			3	495	-	Lung SC(9;0.184)		50					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.149C>T	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903630	0.72754	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.65	4.57	0.56435	.	0.268743	0.42682	D	0.000661	D	0.85877	0.5799	L	0.38175	1.15	0.42403	D	0.992573	D	0.54397	0.966	P	0.55923	0.787	D	0.87245	0.2269	10	0.66056	D	0.02	-18.9919	14.5703	0.68205	0.0825:0.0:0.9175:0.0	.	50	P12272	PTHR_HUMAN	F	50;50;50;50;50;50;50;50;50;58	ENSP00000379213:S50F;ENSP00000441571:S50F;ENSP00000441765:S50F;ENSP00000441890:S50F;ENSP00000346398:S50F;ENSP00000201015:S50F;ENSP00000440613:S50F;ENSP00000379209:S50F;ENSP00000444519:S50F;ENSP00000445157:S58F	ENSP00000201015:S50F	S	-	2	0	PTHLH	28007923	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.124000	0.71620	2.660000	0.90430	0.650000	0.86243	TCC		0.443	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		37	52	0	0	0	1	0	37	52				
A1CF	29974	broad.mit.edu	37	10	52595924	52595924	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52595924C>T	ENST00000373993.1	-	4	558	c.514G>A	c.(514-516)Gct>Act	p.A172T	A1CF_ENST00000373997.3_Missense_Mutation_p.A172T|A1CF_ENST00000282641.2_Missense_Mutation_p.A172T|A1CF_ENST00000395489.2_Missense_Mutation_p.A165T|A1CF_ENST00000374001.2_Missense_Mutation_p.A172T|A1CF_ENST00000395495.1_Missense_Mutation_p.A172T|A1CF_ENST00000373995.3_Missense_Mutation_p.A180T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTATCTGCAGCGCTTGGGTAG	0.468																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(493-495)Gct>Act		APOBEC1 complementation factor							157.0	150.0	152.0					10																	52595924		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595924C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.514G>A	10.37:g.52595924C>T	ENSP00000363105:p.Ala172Thr					A1CF_ENST00000374001.1_Missense_Mutation_p.A172T|A1CF_ENST00000373995.3_Missense_Mutation_p.A180T|A1CF_ENST00000373993.1_Missense_Mutation_p.A172T|A1CF_ENST00000395495.1_Missense_Mutation_p.A172T|A1CF_ENST00000373997.3_Missense_Mutation_p.A172T|A1CF_ENST00000282641.2_Missense_Mutation_p.A172T	p.A165T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	889	-			172			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.493G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039138	0.93630	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.12255	2.71;2.7;2.71;3.4;2.7;3.4;3.4;3.4	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.60845	1.875	0.80722	D	1	B;P;D;B	0.89917	0.36;0.764;1.0;0.39	B;P;D;B	0.83275	0.108;0.55;0.996;0.246	T	0.00325	-1.1816	10	0.48119	T	0.1	-7.8232	18.0887	0.89466	0.0:1.0:0.0:0.0	.	165;172;172;180	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	172;172;172;180;172;172;155;165;172	ENSP00000363113:A172T;ENSP00000363105:A172T;ENSP00000363109:A172T;ENSP00000363107:A180T;ENSP00000282641:A172T;ENSP00000378873:A172T;ENSP00000378868:A165T;ENSP00000397953:A172T	ENSP00000282641:A172T	A	-	1	0	A1CF	52265930	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	5.916000	0.69981	2.873000	0.98535	0.563000	0.77884	GCT		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		78	124	0	0	0	1	0	78	124				
CHAF1B	8208	broad.mit.edu	37	21	37781094	37781094	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:37781094A>G	ENST00000314103.5	+	9	944	c.793A>G	c.(793-795)Acc>Gcc	p.T265A		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	265					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGTAATGAATACCACTTATGT	0.403																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(793-795)Acc>Gcc		chromatin assembly factor 1, subunit B (p60)							111.0	101.0	104.0					21																	37781094		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37781094A>G	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.793A>G	21.37:g.37781094A>G	ENSP00000315700:p.Thr265Ala						p.T265A	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			9	944	+			265					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.793A>G	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856778	0.51376	.	.	ENSG00000159259	ENST00000314103	T	0.69040	-0.37	5.71	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100261	0.64402	D	0.000001	T	0.62060	0.2397	L	0.55743	1.74	0.58432	D	0.999998	P	0.42827	0.791	B	0.41135	0.348	T	0.58825	-0.7568	10	0.30854	T	0.27	-17.3756	12.7863	0.57507	0.863:0.137:0.0:0.0	.	265	Q13112	CAF1B_HUMAN	A	265	ENSP00000315700:T265A	ENSP00000315700:T265A	T	+	1	0	CHAF1B	36702964	1.000000	0.71417	0.017000	0.16124	0.973000	0.67179	8.268000	0.89876	0.948000	0.37687	0.533000	0.62120	ACC		0.403	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		7	22	0	0	0	1	0	7	22				
THSD1	55901	broad.mit.edu	37	13	52971414	52971414	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52971414C>T	ENST00000258613.4	-	3	1152	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.S325N|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	325					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGAAAAATGGCTTCTGCTTGA	0.368																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(973-975)aGc>aAc		thrombospondin, type I, domain containing 1							56.0	58.0	58.0					13																	52971414		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971414C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.974G>A	13.37:g.52971414C>T	ENSP00000258613:p.Ser325Asn					THSD1_ENST00000258613.4_Missense_Mutation_p.S325N|THSD1_ENST00000544466.1_Intron	p.S325N	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1518	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	325					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.974G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367114	0.61513	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.19105	2.17;2.29	5.57	4.73	0.59995	.	0.043699	0.85682	D	0.000000	T	0.19485	0.0468	L	0.43646	1.37	0.80722	D	1	P;P	0.46142	0.873;0.77	B;B	0.43445	0.42;0.193	T	0.01869	-1.1257	10	0.38643	T	0.18	-13.6015	8.5411	0.33393	0.1515:0.7716:0.0:0.0769	.	325;325	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	N	325	ENSP00000340650:S325N;ENSP00000258613:S325N	ENSP00000258613:S325N	S	-	2	0	THSD1	51869415	1.000000	0.71417	0.632000	0.29296	0.972000	0.66771	3.641000	0.54360	1.359000	0.45940	0.561000	0.74099	AGC		0.368	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			10	43	0	0	0	1	0	10	43				
DOPEY1	23033	broad.mit.edu	37	6	83829480	83829480	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83829480C>T	ENST00000349129.2	+	9	1154	c.894C>T	c.(892-894)aaC>aaT	p.N298N	DOPEY1_ENST00000369739.3_Intron|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	298					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGATAACAACGGTGCTATCA	0.348																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(892-894)aaC>aaT		dopey family member 1							142.0	137.0	139.0					6																	83829480		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83829480C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.894C>T	6.37:g.83829480C>T						DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Intron	p.N298N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	9	1154	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	298					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.894C>T	CCDS4996.1																																																																																				0.348	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	27	0	0	0	1	0	23	27				
APOE	348	broad.mit.edu	37	19	45411122	45411122	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45411122G>A	ENST00000252486.4	+	3	260	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	50					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCACTGGGTCGCTTTTGGGAT	0.652																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(148-150)cGc>cAc		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						44.0	42.0	43.0					19																	45411122		2203	4300	6503	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411122G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.149G>A	19.37:g.45411122G>A	ENSP00000252486:p.Arg50His						p.R50H	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	260	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	50					B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.149G>A	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	g	14.97	2.693536	0.48202	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	D;D;D	0.82081	-1.57;-1.57;-1.57	4.85	2.71	0.32032	Apolipoprotein/apolipophorin (1);	0.115026	0.39615	N	0.001311	D	0.89842	0.6832	M	0.85373	2.75	0.32725	N	0.509767	D	0.89917	1.0	D	0.87578	0.998	D	0.89739	0.3932	10	0.56958	D	0.05	0.3621	7.974	0.30145	0.1919:0.0:0.8081:0.0	.	50	P02649	APOE_HUMAN	H	50;50;95;50	ENSP00000252486:R50H;ENSP00000413135:R50H;ENSP00000410423:R50H	ENSP00000252486:R50H	R	+	2	0	APOE	50102962	0.985000	0.35326	0.899000	0.35326	0.242000	0.25591	1.467000	0.35321	0.590000	0.29694	-0.215000	0.12644	CGC		0.652	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		14	12	0	0	0	1	0	14	12				
TRAV26-1	28657	broad.mit.edu	37	14	22592198	22592198	+	RNA	SNP	G	G	A	rs545193017	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22592198G>A	ENST00000390455.3	+	0	492									T cell receptor alpha variable 26-1																		CCTGCCCCACGCTACGCTGAG	0.488													G|||	4	0.000798722	0.0	0.0	5008	,	,		19833	0.003		0.0	False		,,,				2504	0.001					ENST00000390455.3																			0																				52.0	52.0	52.0					14																	22592198		2203	4300	6503			0							g.chr14:22592198G>A	AE000660		14q11.2	2012-02-07			ENSG00000211807	ENSG00000211807		"""T cell receptors / TRA locus"""	12123	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170654		14.37:g.22592198G>A														0	492	+									RNA	SNP	ENST00000390455.3	37																																																																																						0.488	TRAV26-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409902.1	NG_001332		8	10	0	0	0	1	0	8	10				
HSPG2	3339	broad.mit.edu	37	1	22161368	22161368	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3508	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10522-10524)ttC>ttT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						75.0	63.0	67.0					1																	22161368		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161368G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10524C>T	1.37:g.22161368G>A							p.F3508F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10603	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3508			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10524C>T	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	26	0	0	0	1	0	6	26				
SGSM2	9905	broad.mit.edu	37	17	2282453	2282453	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:2282453G>A	ENST00000426855.2	+	22	3063	c.2888G>A	c.(2887-2889)cGt>cAt	p.R963H	RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000574563.1_Missense_Mutation_p.R963H|SGSM2_ENST00000268989.3_Missense_Mutation_p.R1008H|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	963					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GAGATCATCCGTGACAACAAC	0.577																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3022-3024)cGt>cAt		small G protein signaling modulator 2							233.0	177.0	196.0					17																	2282453		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2282453G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2888G>A	17.37:g.2282453G>A	ENSP00000415107:p.Arg963His					SGSM2_ENST00000574563.1_Missense_Mutation_p.R963H|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Missense_Mutation_p.R963H	p.R1008H	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	23	3200	+			963					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.3023G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760674	0.89932	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.22134	1.97;1.97	5.56	5.56	0.83823	Rab-GAP/TBC domain (2);	0.162720	0.56097	D	0.000025	T	0.34832	0.0911	N	0.22421	0.69	0.45239	D	0.998243	D;D;D;D	0.76494	0.994;0.999;0.999;0.999	P;D;D;D	0.74023	0.781;0.976;0.976;0.982	T	0.14643	-1.0465	10	0.87932	D	0	-0.0755	18.5138	0.90928	0.0:0.0:1.0:0.0	.	963;963;963;1008	O43147-5;B9A6J3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	H	1008;963	ENSP00000268989:R1008H;ENSP00000415107:R963H	ENSP00000268989:R1008H	R	+	2	0	SGSM2	2229203	1.000000	0.71417	0.961000	0.40146	0.967000	0.64934	4.237000	0.58681	2.641000	0.89580	0.655000	0.94253	CGT		0.577	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		15	22	0	0	0	1	0	15	22				
KIAA1462	57608	broad.mit.edu	37	10	30317153	30317153	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30317153C>T	ENST00000375377.1	-	3	2025	c.1924G>A	c.(1924-1926)Ggt>Agt	p.G642S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	642					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTCCCACCCATGCTTCCT	0.498																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1924-1926)Ggt>Agt		KIAA1462							113.0	109.0	111.0					10																	30317153		1948	4141	6089	SO:0001583	missense	57608							g.chr10:30317153C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1924G>A	10.37:g.30317153C>T	ENSP00000364526:p.Gly642Ser						p.G642S	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2025	-			642					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1924G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909988	0.17833	.	.	ENSG00000165757	ENST00000375377	T	0.11063	2.81	5.62	2.67	0.31697	.	0.978663	0.08411	N	0.949822	T	0.05777	0.0151	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.45353	T	0.12	-0.4977	4.8087	0.13333	0.0:0.4447:0.3073:0.248	.	642	Q9P266	K1462_HUMAN	S	642	ENSP00000364526:G642S	ENSP00000364526:G642S	G	-	1	0	KIAA1462	30357159	0.310000	0.24527	0.333000	0.25482	0.080000	0.17528	0.772000	0.26647	0.291000	0.22468	0.561000	0.74099	GGT		0.498	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		16	33	0	0	0	1	0	16	33				
MED7	9443	broad.mit.edu	37	5	156566357	156566357	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156566357C>T	ENST00000286317.5	-	2	467	c.86G>A	c.(85-87)gGc>gAc	p.G29D	MED7_ENST00000420343.1_Missense_Mutation_p.G29D	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	29					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGCTAAGCCTTCTTGAAT	0.433																																						ENST00000286317.5																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(85-87)gGc>gAc		mediator complex subunit 7							87.0	83.0	85.0					5																	156566357		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566357C>T	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.86G>A	5.37:g.156566357C>T	ENSP00000286317:p.Gly29Asp					MED7_ENST00000420343.1_Missense_Mutation_p.G29D	p.G29D	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	467	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	29						Missense_Mutation	SNP	ENST00000286317.5	37	c.86G>A	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571813	0.65765	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.77103	2.36	0.80722	D	1	B	0.27450	0.179	B	0.41813	0.367	T	0.69639	-0.5091	9	0.13470	T	0.59	-16.7248	19.8411	0.96685	0.0:1.0:0.0:0.0	.	29	O43513	MED7_HUMAN	D	29	.	ENSP00000286317:G29D	G	-	2	0	MED7	156498935	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.606000	0.61126	2.683000	0.91414	0.655000	0.94253	GGC		0.433	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		21	35	0	0	0	1	0	21	35				
CDRT15	146822	broad.mit.edu	37	17	14140020	14140020	+	Missense_Mutation	SNP	C	C	T	rs560798731	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:14140020C>T	ENST00000420162.2	-	1	146	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CDRT15_ENST00000431716.2_Silent_p.A19A	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	44										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TACCTGGATGCGCCTTATTAC	0.612													C|||	3	0.000599042	0.0	0.0	5008	,	,		19860	0.003		0.0	False		,,,				2504	0.0					ENST00000420162.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(130-132)cGc>cAc		CMT1A duplicated region transcript 15							18.0	18.0	18.0					17																	14140020		2199	4292	6491	SO:0001583	missense	146822							g.chr17:14140020C>T	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.131G>A	17.37:g.14140020C>T	ENSP00000402355:p.Arg44His					CDRT15_ENST00000431716.2_Silent_p.A19A	p.R44H	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	146	-			44					B2RUU5	Missense_Mutation	SNP	ENST00000420162.2	37	c.131G>A	CCDS32569.1	.	.	.	.	.	.	.	.	.	.	C	2.087	-0.409403	0.04799	.	.	ENSG00000223510	ENST00000420162	T	0.51817	0.69	0.534	-0.695	0.11291	.	.	.	.	.	T	0.35941	0.0949	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.50970	0.655	T	0.21655	-1.0239	8	0.40728	T	0.16	.	.	.	.	.	44	Q96T59	CDRTF_HUMAN	H	44	ENSP00000402355:R44H	ENSP00000402355:R44H	R	-	2	0	CDRT15	14080745	0.049000	0.20398	0.002000	0.10522	0.008000	0.06430	0.753000	0.26376	-0.251000	0.09542	0.289000	0.19496	CGC		0.612	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		6	13	0	0	0	1	0	6	13				
ACTN4	81	broad.mit.edu	37	19	39218657	39218657	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39218657C>T	ENST00000252699.2	+	19	2485	c.2409C>T	c.(2407-2409)aaC>aaT	p.N803N	ACTN4_ENST00000424234.2_Silent_p.N413N|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.N584N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	803	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACGTGGAGAACGACCGGCAGG	0.652																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2407-2409)aaC>aaT		actinin, alpha 4							43.0	37.0	39.0					19																	39218657		2202	4300	6502	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39218657C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2409C>T	19.37:g.39218657C>T						ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.N584N|ACTN4_ENST00000424234.2_Silent_p.N413N	p.N803N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2485	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		803					A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2409C>T	CCDS12518.1																																																																																				0.652	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			8	12	0	0	0	1	0	8	12				
SERHL2	253190	broad.mit.edu	37	22	42970768	42970768	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42970768G>A	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CGCTGGGCCCGCAGCAGCTCG	0.657																																						ENST00000357802.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr22:42970768G>A		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42970768G>A														0	840	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.657	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		23	23	0	0	0	1	0	23	23				
MEGF6	1953	broad.mit.edu	37	1	3413851	3413851	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3413851C>T	ENST00000356575.4	-	27	3653	c.3427G>A	c.(3427-3429)Gtc>Atc	p.V1143I	MEGF6_ENST00000294599.4_Missense_Mutation_p.V952I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1143	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCCCAGTGACGTGGTGGCAG	0.726																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3427-3429)Gtc>Atc		multiple EGF-like-domains 6							9.0	15.0	13.0					1																	3413851		2052	4140	6192	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3413851C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3427G>A	1.37:g.3413851C>T	ENSP00000348982:p.Val1143Ile					MEGF6_ENST00000294599.4_Missense_Mutation_p.V952I	p.V1143I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	27	3653	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1143			EGF-like 21.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.3427G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	3.790	-0.043841	0.07452	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.16743	2.42;2.32	4.36	1.44	0.22558	EGF-like, laminin (2);Epidermal growth factor-like, type 3 (1);	0.365534	0.27831	N	0.017677	T	0.09905	0.0243	L	0.27944	0.81	0.26448	N	0.975662	B;B	0.30542	0.052;0.284	B;B	0.25884	0.047;0.064	T	0.27468	-1.0073	10	0.24483	T	0.36	-24.5929	9.8885	0.41276	0.0:0.7526:0.0:0.2474	.	1143;952	O75095;O75095-2	MEGF6_HUMAN;.	I	952;1143	ENSP00000294599:V952I;ENSP00000348982:V1143I	ENSP00000294599:V952I	V	-	1	0	MEGF6	3403711	0.000000	0.05858	0.244000	0.24202	0.671000	0.39405	-0.727000	0.04931	0.577000	0.29470	0.561000	0.74099	GTC		0.726	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	14	0	0	0	1	0	4	14				
FUCA1	2517	broad.mit.edu	37	1	24180991	24180991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24180991G>T	ENST00000374479.3	-	5	835	c.828C>A	c.(826-828)taC>taA	p.Y276*		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	276					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CACAGTTATAGTATCCTCCAT	0.458																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(826-828)taC>taA		fucosidase, alpha-L- 1, tissue							128.0	122.0	124.0					1																	24180991		2203	4300	6503	SO:0001587	stop_gained	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24180991G>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.828C>A	1.37:g.24180991G>T	ENSP00000363603:p.Tyr276*						p.Y276*	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	5	835	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	276					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Nonsense_Mutation	SNP	ENST00000374479.3	37	c.828C>A	CCDS244.2	.	.	.	.	.	.	.	.	.	.	g	23.7	4.443133	0.83993	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	.	.	.	4.74	4.74	0.60224	.	0.231325	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.2205	13.4197	0.60989	0.0778:0.0:0.9222:0.0	.	.	.	.	X	276;65	.	ENSP00000363599:Y65X	Y	-	3	2	FUCA1	24053578	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	2.727000	0.47311	2.477000	0.83638	0.632000	0.83419	TAC		0.458	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		53	64	1	0	9.90819e-18	1	1.09129e-17	53	64				
FOXB1	27023	broad.mit.edu	37	15	60297596	60297596	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60297596C>T	ENST00000396057.4	+	2	913	c.434C>T	c.(433-435)aCg>aTg	p.T145M	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	145					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCCTCGGGCACGCACCTGCCA	0.706																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(433-435)aCg>aTg		forkhead box B1							5.0	6.0	6.0					15																	60297596		2077	4050	6127	SO:0001583	missense	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60297596C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.434C>T	15.37:g.60297596C>T	ENSP00000379369:p.Thr145Met					FOXB1_ENST00000560857.1_Intron	p.T145M	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	913	+			145					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.434C>T	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441884	0.63067	.	.	ENSG00000171956	ENST00000396057	D	0.95821	-3.82	3.78	3.78	0.43462	.	0.459147	0.18496	U	0.139497	D	0.92548	0.7633	L	0.47716	1.5	0.51482	D	0.999928	B	0.24043	0.096	B	0.14578	0.011	D	0.90937	0.4794	10	0.45353	T	0.12	.	14.3894	0.66968	0.0:1.0:0.0:0.0	.	145	Q99853	FOXB1_HUMAN	M	145	ENSP00000379369:T145M	ENSP00000379369:T145M	T	+	2	0	FOXB1	58084888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.718000	0.61930	1.913000	0.55393	0.650000	0.86243	ACG		0.706	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			3	9	0	0	0	1	0	3	9				
NEGR1	257194	broad.mit.edu	37	1	72400777	72400777	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:72400777G>A	ENST00000357731.5	-	2	633	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Y|NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Y|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	132	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACAGTTAGATGCACCTGCATT	0.393																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(394-396)Cat>Tat		neuronal growth regulator 1							102.0	92.0	96.0					1																	72400777		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400777G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.394C>T	1.37:g.72400777G>A	ENSP00000350364:p.His132Tyr					NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Y|NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Y|NEGR1_ENST00000467479.1_5'UTR	p.H132Y	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	633	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	132			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.394C>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	G	6.186	0.402513	0.11696	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66995	-0.24;1.6;-0.24	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104921	0.64402	D	0.000004	T	0.27384	0.0672	N	0.12920	0.275	0.45962	D	0.998787	B;B	0.10296	0.001;0.003	B;B	0.15484	0.013;0.013	T	0.17501	-1.0367	10	0.02654	T	1	-11.3048	14.0552	0.64764	0.0721:0.0:0.9279:0.0	.	130;132	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Y	132;4;130	ENSP00000350364:H132Y;ENSP00000305938:H4Y;ENSP00000413294:H130Y	ENSP00000305938:H4Y	H	-	1	0	NEGR1	72173365	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.798000	0.55522	2.699000	0.92147	0.655000	0.94253	CAT		0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		17	30	0	0	0	1	0	17	30				
PMPCA	23203	broad.mit.edu	37	9	139311544	139311544	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139311544G>A	ENST00000371717.3	+	7	784	c.775G>A	c.(775-777)Gag>Aag	p.E259K	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E128K	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	259					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CGTGGGCGTGGAGCACGAGCA	0.622																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(775-777)Gag>Aag		peptidase (mitochondrial processing) alpha							56.0	44.0	48.0					9																	139311544		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311544G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.775G>A	9.37:g.139311544G>A	ENSP00000360782:p.Glu259Lys					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E128K	p.E259K	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	784	+		Myeloproliferative disorder(178;0.0821)	259					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.775G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616713	0.66672	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.42513	0.97;1.47	5.81	5.81	0.92471	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.41573	1.285	0.80722	D	1	B;B;B	0.32324	0.364;0.364;0.364	B;B;B	0.37943	0.188;0.261;0.261	T	0.12293	-1.0553	10	0.26408	T	0.33	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	128;259;259	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	K	259;128	ENSP00000360782:E259K;ENSP00000416702:E128K	ENSP00000360782:E259K	E	+	1	0	PMPCA	138431365	1.000000	0.71417	0.829000	0.32907	0.120000	0.20174	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	GAG		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		4	25	0	0	0	1	0	4	25				
RASSF9	9182	broad.mit.edu	37	12	86199651	86199651	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:86199651C>T	ENST00000361228.3	-	2	505	c.137G>A	c.(136-138)cGc>cAc	p.R46H		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGGTGGTGCGTTTAGTCAG	0.458																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)cGc>cAc		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							119.0	118.0	118.0					12																	86199651		1939	4168	6107	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199651C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.137G>A	12.37:g.86199651C>T	ENSP00000354884:p.Arg46His						p.R46H	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	505	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.137G>A	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	9.902	1.207261	0.22205	.	.	ENSG00000198774	ENST00000361228	T	0.52754	0.65	4.82	3.93	0.45458	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.34919	0.0914	L	0.35288	1.05	0.40062	D	0.975908	B	0.12630	0.006	B	0.12156	0.007	T	0.15896	-1.0421	10	0.39692	T	0.17	-18.6986	9.6378	0.39819	0.0:0.8393:0.0:0.1607	.	46	O75901	RASF9_HUMAN	H	46	ENSP00000354884:R46H	ENSP00000354884:R46H	R	-	2	0	RASSF9	84723782	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.986000	0.29590	1.172000	0.42781	0.514000	0.50259	CGC		0.458	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			21	35	0	0	0	1	0	21	35				
ENPP2	5168	broad.mit.edu	37	8	120598437	120598437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120598437C>T	ENST00000075322.6	-	15	1414	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	ENPP2_ENST00000522167.1_Nonsense_Mutation_p.W91*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.W504*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.W452*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.W448*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	452					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGCAACATGCCATCTGCGTT	0.413																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1342-1344)tgG>tgA		ectonucleotide pyrophosphatase/phosphodiesterase 2							184.0	162.0	170.0					8																	120598437		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120598437C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1356G>A	8.37:g.120598437C>T	ENSP00000075322:p.Trp452*					ENPP2_ENST00000522167.1_Nonsense_Mutation_p.W91*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.W504*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.W452*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.W452*	p.W448*			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	1524	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		452					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	c.1344G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	38	6.644631	0.97730	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.64	5.64	0.86602	.	0.122950	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9117	19.6837	0.95973	0.0:1.0:0.0:0.0	.	.	.	.	X	504;448;91;452;452	.	ENSP00000075322:W452X	W	-	3	0	ENPP2	120667618	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.782000	0.85680	2.660000	0.90430	0.555000	0.69702	TGG		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			29	64	0	0	0	1	0	29	64				
UAP1	6675	broad.mit.edu	37	1	162560256	162560256	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162560256G>A	ENST00000367925.1	+	7	1345	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	UAP1_ENST00000271469.3_Missense_Mutation_p.G438D|UAP1_ENST00000367926.4_Missense_Mutation_p.G438D|UAP1_ENST00000367924.1_Missense_Mutation_p.G438D|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	438					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AATGCAGGGGGCCATTTCATA	0.448																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1312-1314)gGc>gAc		UDP-N-acteylglucosamine pyrophosphorylase 1							114.0	105.0	108.0					1																	162560256		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162560256G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1313G>A	1.37:g.162560256G>A	ENSP00000356902:p.Gly438Asp					UAP1_ENST00000367925.1_Missense_Mutation_p.G438D|UAP1_ENST00000367926.4_Missense_Mutation_p.G438D|UAP1_ENST00000367924.1_Missense_Mutation_p.G438D	p.G438D			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		8	1615	+	all_hematologic(112;0.115)		438					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1313G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.012504	0.93346	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.43809	0.1264	M	0.90705	3.14	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.55341	-0.8156	9	0.87932	D	0	-12.6179	16.8901	0.86085	0.0:0.0:1.0:0.0	.	438	Q16222-2	.	D	438	ENSP00000356903:G438D;ENSP00000271469:G438D;ENSP00000356902:G438D;ENSP00000356901:G438D	ENSP00000271469:G438D	G	+	2	0	UAP1	160826880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.398000	0.97281	2.561000	0.86390	0.655000	0.94253	GGC		0.448	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		25	29	0	0	0	1	0	25	29				
ITSN2	50618	broad.mit.edu	37	2	24427160	24427160	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24427160G>A	ENST00000355123.4	-	39	5333	c.4890C>T	c.(4888-4890)gaC>gaT	p.D1630D	ITSN2_ENST00000361999.3_Silent_p.D1603D|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1630	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACAGCACGTCTTGGTAGA	0.498																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4888-4890)gaC>gaT		intersectin 2							134.0	129.0	131.0					2																	24427160		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24427160G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4890C>T	2.37:g.24427160G>A						ITSN2_ENST00000361999.3_Silent_p.D1603D	p.D1630D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			39	5333	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1630			C2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4890C>T	CCDS1710.2																																																																																				0.498	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		30	45	0	0	0	1	0	30	45				
SPAG5	10615	broad.mit.edu	37	17	26911191	26911191	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26911191G>A	ENST00000321765.5	-	13	2721	c.2389C>T	c.(2389-2391)Cgg>Tgg	p.R797W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	797	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGGTCCCGCACCTCTTTG	0.507																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2389-2391)Cgg>Tgg		sperm associated antigen 5							192.0	166.0	175.0					17																	26911191		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26911191G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2389C>T	17.37:g.26911191G>A	ENSP00000323300:p.Arg797Trp						p.R797W	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			13	2721	-	Lung NSC(42;0.00431)		797					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2389C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463247	0.84425	.	.	ENSG00000076382;ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000536674;ENST00000531839	.	.	.	6.02	6.02	0.97574	.	0.352416	0.24766	N	0.035779	T	0.45538	0.1347	N	0.19112	0.55	0.26119	N	0.980572	D;D	0.71674	0.998;0.998	P;P	0.56916	0.736;0.809	T	0.43766	-0.9371	9	0.72032	D	0.01	-3.5464	16.0374	0.80640	0.0:0.0:1.0:0.0	.	202;797	E9PMD0;Q96R06	.;SPAG5_HUMAN	W	797;294;202	.	ENSP00000431165:R202W	R	-	1	2	SPAG5;RP11-192H23.4	23935318	0.996000	0.38824	0.995000	0.50966	0.997000	0.91878	3.374000	0.52402	2.857000	0.98124	0.650000	0.86243	CGG		0.507	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		40	60	0	0	0	1	0	40	60				
PLCG2	5336	broad.mit.edu	37	16	81960741	81960741	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81960741C>T	ENST00000359376.3	+	23	2686	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	824	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAACTACGTCGAGGACATCT	0.527																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2470-2472)gtC>gtT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							169.0	167.0	167.0					16																	81960741		2010	4179	6189	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81960741C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2472C>T	16.37:g.81960741C>T							p.V824V	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			23	2686	+			824			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.2472C>T	CCDS42204.1																																																																																				0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			56	77	0	0	0	1	0	56	77				
IRX4	50805	broad.mit.edu	37	5	1879621	1879621	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1879621C>T	ENST00000505790.1	-	5	1189	c.733G>A	c.(733-735)Gca>Aca	p.A245T	IRX4_ENST00000231357.2_Missense_Mutation_p.A245T|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.A245T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	245					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		AACCCACCTGCGTTCTTGGAG	0.667																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(733-735)Gca>Aca		iroquois homeobox 4							36.0	35.0	35.0					5																	1879621		2190	4283	6473	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879621C>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.733G>A	5.37:g.1879621C>T	ENSP00000423161:p.Ala245Thr					IRX4_ENST00000231357.2_Missense_Mutation_p.A245T|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.A245T	p.A245T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1189	-			245					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.733G>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	6.386	0.439270	0.12104	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.63913	-0.07;-0.07;-0.07	4.17	4.17	0.49024	.	0.272597	0.32287	N	0.006318	T	0.35335	0.0928	N	0.08118	0	0.23550	N	0.997439	B	0.27679	0.185	B	0.14023	0.01	T	0.12578	-1.0542	10	0.21014	T	0.42	.	9.2497	0.37547	0.0:0.8981:0.0:0.1019	.	245	P78413	IRX4_HUMAN	T	245	ENSP00000231357:A245T;ENSP00000423161:A245T;ENSP00000424235:A245T	ENSP00000231357:A245T	A	-	1	0	IRX4	1932621	0.846000	0.29590	0.575000	0.28536	0.077000	0.17291	1.711000	0.37930	2.156000	0.67533	0.462000	0.41574	GCA		0.667	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		22	29	0	0	0	1	0	22	29				
TTC21B	79809	broad.mit.edu	37	2	166786784	166786784	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166786784C>T	ENST00000243344.7	-	9	1122	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	329					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TATCCAAGTTCTGTAGCAAAT	0.378																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(985-987)Gaa>Aaa		tetratricopeptide repeat domain 21B							114.0	115.0	115.0					2																	166786784		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166786784C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.985G>A	2.37:g.166786784C>T	ENSP00000243344:p.Glu329Lys						p.E329K	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			9	1122	-			329					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.985G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519338	0.96416	.	.	ENSG00000123607	ENST00000243344	T	0.50548	0.74	5.06	5.06	0.68205	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76266	-0.3022	10	0.38643	T	0.18	-23.7546	18.7961	0.91994	0.0:1.0:0.0:0.0	.	329;329	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	K	329	ENSP00000243344:E329K	ENSP00000243344:E329K	E	-	1	0	TTC21B	166495030	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.547000	0.82146	2.510000	0.84645	0.650000	0.86243	GAA		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		28	37	0	0	0	1	0	28	37				
CASP8	841	broad.mit.edu	37	2	202141679	202141679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202141679C>T	ENST00000432109.2	+	8	979	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.H323Y|CASP8_ENST00000264275.5_Missense_Mutation_p.H281Y|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.H249Y|CASP8_ENST00000264274.9_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	264					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAATGGAACACACTTGGATGC	0.383										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(967-969)Cac>Tac		caspase 8, apoptosis-related cysteine peptidase							77.0	69.0	72.0					2																	202141679		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141679C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.790C>T	2.37:g.202141679C>T	ENSP00000412523:p.His264Tyr	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.H249Y|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.H281Y|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000432109.2_Missense_Mutation_p.H264Y	p.H323Y	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1163	+			264					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.967C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018992	0.35606	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;0.94;-1.36;-1.36	5.49	-4.0	0.04057	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.989296	0.08262	N	0.972829	T	0.65729	0.2719	L	0.31476	0.935	0.28809	N	0.898353	P;P;P;B;B;P	0.50443	0.935;0.793;0.642;0.312;0.006;0.642	B;B;B;B;B;B	0.43508	0.422;0.171;0.28;0.088;0.021;0.372	T	0.59984	-0.7351	10	0.15066	T	0.55	.	7.3772	0.26835	0.3851:0.3071:0.3077:0.0	.	264;249;323;264;249;281	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	Y	249;264;281;146;323;249;249	ENSP00000376091:H249Y;ENSP00000412523:H264Y;ENSP00000264275:H281Y;ENSP00000391709:H146Y;ENSP00000351273:H323Y;ENSP00000325722:H249Y	ENSP00000264275:H281Y	H	+	1	0	CASP8	201849924	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	-1.369000	0.02578	-0.909000	0.03852	0.561000	0.74099	CAC		0.383	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		12	20	0	0	0	1	0	12	20				
CNTN5	53942	broad.mit.edu	37	11	100064390	100064390	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:100064390A>G	ENST00000524871.1	+	15	2169	c.1879A>G	c.(1879-1881)Agg>Ggg	p.R627G	CNTN5_ENST00000527185.1_Missense_Mutation_p.R627G|CNTN5_ENST00000528682.1_Missense_Mutation_p.R627G|CNTN5_ENST00000418526.2_Missense_Mutation_p.R553G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.R627G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	627	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAAAGCATCAGGGCCGTAAG	0.363																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1879-1881)Agg>Ggg		contactin 5							91.0	85.0	87.0					11																	100064390		1844	4084	5928	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100064390A>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1879A>G	11.37:g.100064390A>G	ENSP00000435637:p.Arg627Gly					CNTN5_ENST00000279463.3_Missense_Mutation_p.R627G|CNTN5_ENST00000528682.1_Missense_Mutation_p.R627G|CNTN5_ENST00000418526.2_Missense_Mutation_p.R553G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R627G	p.R627G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	15	2169	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	627			Ig-like C2-type 6.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1879A>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	4.461	0.085464	0.08583	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.96	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095542	0.64402	D	0.000001	T	0.43678	0.1258	N	0.10760	0.04	0.39562	D	0.969148	B;B;B	0.29232	0.238;0.123;0.238	B;B;B	0.34590	0.186;0.075;0.186	T	0.44937	-0.9295	10	0.02654	T	1	.	12.2105	0.54377	0.8579:0.1421:0.0:0.0	.	627;553;627	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	G	627;627;627;553;627	ENSP00000433575:R627G;ENSP00000436185:R627G;ENSP00000435637:R627G;ENSP00000393229:R553G;ENSP00000279463:R627G	ENSP00000279463:R627G	R	+	1	2	CNTN5	99569600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.790000	0.38734	2.279000	0.76181	0.533000	0.62120	AGG		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		6	40	0	0	0	1	0	6	40				
DNAJC30	84277	broad.mit.edu	37	7	73097608	73097608	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73097608G>A	ENST00000395176.2	-	1	175	c.146C>T	c.(145-147)gCg>gTg	p.A49V	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000423166.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	49	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						ATCATACAGCGCCGTGCGCGA	0.612																																						ENST00000395176.2																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(145-147)gCg>gTg		DnaJ (Hsp40) homolog, subfamily C, member 30							90.0	103.0	99.0					7																	73097608		2200	4294	6494	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097608G>A	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.146C>T	7.37:g.73097608G>A	ENSP00000378605:p.Ala49Val					WBSCR22_ENST00000464615.1_3'UTR	p.A49V	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN			1	175	-			49			J.		Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.146C>T	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347055	0.82022	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.73363	-0.74	5.26	3.41	0.39046	Heat shock protein DnaJ, N-terminal (4);	0.293194	0.25117	N	0.033006	T	0.77785	0.4182	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75196	-0.3403	10	0.39692	T	0.17	-9.2903	12.2567	0.54627	0.0:0.0:0.6916:0.3084	.	49	Q96LL9	DJC30_HUMAN	V	49;46	ENSP00000378605:A49V	ENSP00000378605:A49V	A	-	2	0	DNAJC30	72735544	0.999000	0.42202	0.999000	0.59377	0.463000	0.32649	2.205000	0.42770	0.741000	0.32674	0.655000	0.94253	GCG		0.612	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			5	88	0	0	0	1	0	5	88				
WDR81	124997	broad.mit.edu	37	17	1635978	1635978	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1635978G>A	ENST00000409644.1	+	6	4342	c.4342G>A	c.(4342-4344)Gcg>Acg	p.A1448T	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.A87T|WDR81_ENST00000545662.1_Missense_Mutation_p.A79T|WDR81_ENST00000309182.5_Missense_Mutation_p.A397T|WDR81_ENST00000437219.2_Missense_Mutation_p.A245T|WDR81_ENST00000419248.1_Missense_Mutation_p.A221T	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1448					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTGGACCCTGCGGGCCGTGG	0.692																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4342-4344)Gcg>Acg		WD repeat domain 81							25.0	26.0	26.0					17																	1635978		2203	4294	6497	SO:0001583	missense	124997							g.chr17:1635978G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4342G>A	17.37:g.1635978G>A	ENSP00000386609:p.Ala1448Thr					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.A87T|WDR81_ENST00000545662.1_Missense_Mutation_p.A79T|WDR81_ENST00000419248.1_Missense_Mutation_p.A221T|WDR81_ENST00000437219.2_Missense_Mutation_p.A245T|WDR81_ENST00000309182.5_Missense_Mutation_p.A397T	p.A1448T	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	4342	+			221					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4342G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965158	0.02249	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.54479	2.41;2.4;0.57;2.42;0.92;0.67;0.57	5.12	-6.89	0.01660	.	1.902650	0.02005	N	0.046606	T	0.21347	0.0514	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.13575	-1.0504	10	0.11794	T	0.64	.	1.4847	0.02444	0.4613:0.1399:0.1963:0.2024	.	79;245;575;397	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	T	245;397;87;221;33;1448;199;79	ENSP00000391074:A245T;ENSP00000312074:A397T;ENSP00000401560:A87T;ENSP00000407845:A221T;ENSP00000395198:A33T;ENSP00000386609:A1448T;ENSP00000442726:A79T	ENSP00000312074:A397T	A	+	1	0	WDR81	1582728	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.762000	0.04745	-0.990000	0.03481	-2.070000	0.00385	GCG		0.692	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		10	20	0	0	0	1	0	10	20				
C2CD2L	9854	broad.mit.edu	37	11	118986911	118986911	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118986911G>A	ENST00000336702.3	+	14	2428	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	689						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTTATCAAGCGCTTTTCCTTC	0.582																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(2068-2070)cGc>cAc		C2CD2-like							88.0	86.0	87.0					11																	118986911		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986911G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000336702.3:c.2069G>A	11.37:g.118986911G>A	ENSP00000338885:p.Arg690His					C2CD2L_ENST00000528586.1_3'UTR	p.R690H	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			14	2428	+			689					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.2069G>A	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296041	0.95574	.	.	ENSG00000172375	ENST00000336702	T	0.59083	0.29	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74225	-0.3734	10	0.87932	D	0	-20.6835	17.918	0.88958	0.0:0.0:1.0:0.0	.	689;690	O14523;O14523-2	C2C2L_HUMAN;.	H	690	ENSP00000338885:R690H	ENSP00000338885:R690H	R	+	2	0	C2CD2L	118492121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.770000	0.91746	2.693000	0.91896	0.655000	0.94253	CGC		0.582	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		12	15	0	0	0	1	0	12	15				
HNF1B	6928	broad.mit.edu	37	17	36093663	36093663	+	Silent	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36093663G>C	ENST00000225893.4	-	3	1057	c.696C>G	c.(694-696)cgC>cgG	p.R232R	HNF1B_ENST00000427275.2_Silent_p.R206R|HNF1B_ENST00000561193.1_Silent_p.R206R|HNF1B_ENST00000560016.1_Silent_p.R232R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	232					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACCGGTTGCGGCGCATCTTCT	0.567																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(694-696)cgC>cgG		HNF1 homeobox B							90.0	84.0	86.0					17																	36093663		2203	4300	6503	SO:0001819	synonymous_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36093663G>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.696C>G	17.37:g.36093663G>C						HNF1B_ENST00000561193.1_Silent_p.R206R|HNF1B_ENST00000560016.1_Silent_p.R232R|HNF1B_ENST00000427275.2_Silent_p.R206R	p.R232R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	1057	-		Breast(25;0.00765)|Ovarian(249;0.15)	232					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.696C>G	CCDS11324.1																																																																																				0.567	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		16	28	0	0	0	1	0	16	28				
GFRA1	2674	broad.mit.edu	37	10	118030617	118030617	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118030617C>T	ENST00000355422.6	-	3	601	c.51G>A	c.(49-51)ctG>ctA	p.L17L	GFRA1_ENST00000439649.3_Silent_p.L17L|GFRA1_ENST00000369236.1_Silent_p.L17L|GFRA1_ENST00000490345.1_5'Flank	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	17					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTTCGGCCGACAGGAGCAAGT	0.711																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(49-51)ctG>ctA		GDNF family receptor alpha 1							26.0	24.0	25.0					10																	118030617		2202	4297	6499	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030617C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.51G>A	10.37:g.118030617C>T						GFRA1_ENST00000355422.6_Silent_p.L17L|GFRA1_ENST00000369236.1_Silent_p.L17L	p.L17L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	418	-		Lung NSC(174;0.21)	17					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.51G>A	CCDS44481.1																																																																																				0.711	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		11	14	0	0	0	1	0	11	14				
PLA2G6	8398	broad.mit.edu	37	22	38522377	38522377	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38522377C>T	ENST00000332509.3	-	10	1611		c.e10+1		PLA2G6_ENST00000490473.1_Splice_Site|PLA2G6_ENST00000402064.1_Splice_Site|PLA2G6_ENST00000335539.3_Splice_Site	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)						cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GATCCACTTACGTCCGCTTCT	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	GRCh37	CS090239	PLA2G6	S		c.e10+1		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						119.0	97.0	105.0					22																	38522377		2203	4300	6503	SO:0001630	splice_region_variant	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38522377C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1427+1G>A	22.37:g.38522377C>T						PLA2G6_ENST00000335539.3_Splice_Site|PLA2G6_ENST00000490473.1_Splice_Site|PLA2G6_ENST00000402064.1_Splice_Site		NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			10	1611	-	Melanoma(58;0.045)							A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Splice_Site	SNP	ENST00000332509.3	37		CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170313	0.21621	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5279	0.61605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G6	36852323	0.988000	0.35896	0.999000	0.59377	0.019000	0.09904	3.541000	0.53618	2.544000	0.85801	0.655000	0.94253	.		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	Intron	12	22	0	0	0	1	0	12	22				
PLCH1	23007	broad.mit.edu	37	3	155232632	155232632	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155232632C>T	ENST00000340059.7	-	11	1475	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	PLCH1_ENST00000460012.1_Silent_p.R474R|PLCH1_ENST00000447496.2_Silent_p.R492R|PLCH1_ENST00000334686.6_Silent_p.R474R|PLCH1_ENST00000494598.1_Silent_p.R492R|PLCH1_ENST00000414191.1_Silent_p.R474R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	492					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCAGTTTTTTCCTTATGAAAG	0.388																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1420-1422)agG>agA		phospholipase C, eta 1							97.0	86.0	90.0					3																	155232632		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232632C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1476G>A	3.37:g.155232632C>T						PLCH1_ENST00000494598.1_Silent_p.R492R|PLCH1_ENST00000447496.2_Silent_p.R492R|PLCH1_ENST00000414191.1_Silent_p.R474R|PLCH1_ENST00000340059.7_Silent_p.R492R|PLCH1_ENST00000334686.6_Silent_p.R474R	p.R474R			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		12	1779	-			492					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1422G>A	CCDS46939.1																																																																																				0.388	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		26	27	0	0	0	1	0	26	27				
MAGEB10	139422	broad.mit.edu	37	X	27839513	27839513	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:27839513C>T	ENST00000356790.2	+	3	335	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	30										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ATGCTCTGGACATTTTAGAAG	0.512																																						ENST00000356790.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(88-90)gaC>gaT		melanoma antigen family B, 10							57.0	56.0	56.0					X																	27839513		2202	4300	6502	SO:0001819	synonymous_variant	139422							g.chrX:27839513C>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.90C>T	X.37:g.27839513C>T							p.D30D	NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN			3	335	+			30					Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.90C>T	CCDS35221.1																																																																																				0.512	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		10	3	0	0	0	1	0	10	3				
DHX29	54505	broad.mit.edu	37	5	54570759	54570759	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54570759G>A	ENST00000251636.5	-	15	2655	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	836						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTATAGAATAGCATGCTGAGT	0.373																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2506-2508)gCt>gTt		DEAH (Asp-Glu-Ala-His) box polypeptide 29							105.0	109.0	108.0					5																	54570759		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54570759G>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2507C>T	5.37:g.54570759G>A	ENSP00000251636:p.Ala836Val					RP11-506H20.1_ENST00000506435.1_RNA	p.A836V	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			15	2655	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	836					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2507C>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	8.485	0.860626	0.17178	.	.	ENSG00000067248	ENST00000251636	T	0.14144	2.53	5.1	5.1	0.69264	.	0.109676	0.64402	D	0.000007	T	0.13586	0.0329	L	0.38175	1.15	0.52501	D	0.999959	B	0.17038	0.02	B	0.15052	0.012	T	0.09357	-1.0678	10	0.21014	T	0.42	.	18.8847	0.92372	0.0:0.0:1.0:0.0	.	836	Q7Z478	DHX29_HUMAN	V	836	ENSP00000251636:A836V	ENSP00000251636:A836V	A	-	2	0	DHX29	54606516	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	6.002000	0.70693	2.538000	0.85594	0.563000	0.77884	GCT		0.373	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		58	72	0	0	0	1	0	58	72				
KIAA1522	57648	broad.mit.edu	37	1	33237579	33237579	+	Silent	SNP	G	G	A	rs541330268	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33237579G>A	ENST00000373480.1	+	6	2725	c.2622G>A	c.(2620-2622)gcG>gcA	p.A874A	KIAA1522_ENST00000401073.2_Silent_p.A933A|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A885A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCATGCTGCGGTCCGACTCA	0.711													C|||	3	0.000599042	0.0	0.0	5008	,	,		12971	0.0		0.0	False		,,,				2504	0.0031					ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2797-2799)gcG>gcA		KIAA1522							10.0	12.0	12.0					1																	33237579		1909	4098	6007	SO:0001819	synonymous_variant	57648							g.chr1:33237579G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2622G>A	1.37:g.33237579G>A						KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A885A|KIAA1522_ENST00000373480.1_Silent_p.A874A	p.A933A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2869	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	874			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2799G>A	CCDS55588.1																																																																																				0.711	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	6	0	0	0	1	0	6	6				
KDM4B	23030	broad.mit.edu	37	19	5047489	5047489	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5047489C>T	ENST00000159111.4	+	6	653	c.435C>T	c.(433-435)gaC>gaT	p.D145D	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.D145D|KDM4B_ENST00000381759.4_Silent_p.D145D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	145					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCACAGGACGTGGCCCAGT	0.677																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(433-435)gaC>gaT		lysine (K)-specific demethylase 4B							41.0	39.0	39.0					19																	5047489		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047489C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.435C>T	19.37:g.5047489C>T						KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.D145D|KDM4B_ENST00000381759.4_Silent_p.D145D	p.D145D	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	653	+			145					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.435C>T	CCDS12138.1																																																																																				0.677	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		18	13	0	0	0	1	0	18	13				
KDM3B	51780	broad.mit.edu	37	5	137717276	137717276	+	Silent	SNP	C	C	T	rs367814427		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137717276C>T	ENST00000314358.5	+	6	977	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	259					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CGCCTCAAAGCGAGGTACAGT	0.428																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(775-777)agC>agT		lysine (K)-specific demethylase 3B		C		0,4406		0,0,2203	122.0	105.0	111.0		777	-4.9	0.6	5		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDM3B	NM_016604.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		259/1762	137717276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137717276C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.777C>T	5.37:g.137717276C>T							p.S259S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			6	977	+			259					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.777C>T	CCDS34242.1																																																																																				0.428	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		20	19	0	0	0	1	0	20	19				
NPIPB15	440348	broad.mit.edu	37	16	74425611	74425611	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74425611G>A	ENST00000429990.1	+	7	1061	c.965G>A	c.(964-966)tGt>tAt	p.C322Y				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	322	Pro-rich.					extracellular region (GO:0005576)											CTGAAGGACTGTCTCTTTGTC	0.522																																						ENST00000429990.1																			0											c.(964-966)tGt>tAt		nuclear pore complex interacting protein family, member B15							150.0	150.0	150.0					16																	74425611		2148	4261	6409	SO:0001583	missense	440348							g.chr16:74425611G>A	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.965G>A	16.37:g.74425611G>A	ENSP00000411140:p.Cys322Tyr						p.C322Y							7	1061	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.965G>A		.	.	.	.	.	.	.	.	.	.	-	7.432	0.638965	0.14386	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.46451	0.87	.	.	.	.	.	.	.	.	T	0.45337	0.1337	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.31503	-0.9941	7	0.87932	D	0	.	.	.	.	.	261	A6NHN6	NPPL2_HUMAN	Y	200;322	ENSP00000411140:C322Y	ENSP00000411140:C322Y	C	+	2	0	NPIPL2	72983112	.	.	0.008000	0.14137	0.008000	0.06430	.	.	0.073000	0.16731	0.074000	0.15403	TGT		0.522	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		35	224	0	0	0	1	0	35	224				
SPTY2D1	144108	broad.mit.edu	37	11	18636790	18636790	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18636790G>T	ENST00000336349.5	-	3	1266	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	344	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ATGGGACAGAGATTTTTTGGC	0.537																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1030-1032)tCt>tAt		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							109.0	121.0	117.0					11																	18636790		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636790G>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1031C>A	11.37:g.18636790G>T	ENSP00000337991:p.Ser344Tyr						p.S344Y	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1266	-			344			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1031C>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476447	0.26511	.	.	ENSG00000179119	ENST00000336349	T	0.25749	1.78	5.84	3.98	0.46160	.	0.678176	0.15875	N	0.240321	T	0.19406	0.0466	L	0.27053	0.805	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	T	0.14172	-1.0482	10	0.59425	D	0.04	0.4083	11.3069	0.49340	0.1258:0.0:0.8742:0.0	.	344	Q68D10	SPT2_HUMAN	Y	344	ENSP00000337991:S344Y	ENSP00000337991:S344Y	S	-	2	0	SPTY2D1	18593366	0.981000	0.34729	0.976000	0.42696	0.792000	0.44763	2.095000	0.41729	0.819000	0.34492	0.563000	0.77884	TCT		0.537	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		56	86	1	0	9.55421e-19	1	1.05525e-18	56	86				
REPIN1	29803	broad.mit.edu	37	7	150069766	150069766	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150069766G>A	ENST00000425389.2	+	1	1514	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.R479H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R479H|REPIN1_ENST00000489432.2_Missense_Mutation_p.R536H|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.R479H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	479					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGCACCGGCGCATCCACACC	0.701																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1435-1437)cGc>cAc		replication initiator 1							32.0	39.0	37.0					7																	150069766		2198	4298	6496	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069766G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1436G>A	7.37:g.150069766G>A	ENSP00000388287:p.Arg479His					REPIN1_ENST00000489432.2_Missense_Mutation_p.R536H|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R479H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R479H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R479H	p.R479H	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1925	+	Ovarian(565;0.183)|Melanoma(164;0.226)		479					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1436G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335155	0.60853	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	T	0.00064	-1.2150	9	0.87932	D	0	-26.776	7.6633	0.28415	0.1137:0.0:0.8863:0.0	.	536;479	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	479;479;479;536;479	ENSP00000445016:R479H;ENSP00000380451:R479H;ENSP00000407714:R479H;ENSP00000417291:R536H;ENSP00000388287:R479H	ENSP00000380451:R479H	R	+	2	0	REPIN1	149700699	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.371000	0.44248	2.142000	0.66516	0.462000	0.41574	CGC		0.701	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		20	27	0	0	0	1	0	20	27				
HEATR5A	25938	broad.mit.edu	37	14	31855778	31855778	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31855778G>T	ENST00000389961.3	-	8	1174	c.1175C>A	c.(1174-1176)gCc>gAc	p.A392D	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A392D|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A105D|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A398D|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A398D			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	392										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTCATTACGGCATCTGATAG	0.373																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(1192-1194)gCc>gAc		HEAT repeat containing 5A																																				SO:0001583	missense	25938						binding	g.chr14:31855778G>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1175C>A	14.37:g.31855778G>T	ENSP00000374611:p.Ala392Asp					HEATR5A_ENST00000404677.3_Missense_Mutation_p.A398D|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A105D|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A392D|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A392D	p.A398D	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	9	1377	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		392					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.1193C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.041601|2.041601	0.35989|0.35989	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864	T;T;T;T;T|.	0.08458|.	3.09;3.09;3.09;3.09;3.09|.	5.93|5.93	5.04|5.04	0.67666|0.67666	.|.	0.172346|.	0.50627|.	D|.	0.000108|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999994|0.999994	D;B|.	0.64830|.	0.994;0.085|.	P;B|.	0.60068|.	0.868;0.088|.	T|T	0.69840|0.69840	-0.5036|-0.5036	10|5	0.20519|.	T|.	0.43|.	.|.	14.997|14.997	0.71439|0.71439	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	398;392|.	B5MC49;Q86XA9-2|.	.;.|.	D|T	392;392;105;398;398|26	ENSP00000374611:A392D;ENSP00000405407:A392D;ENSP00000408681:A105D;ENSP00000437968:A398D;ENSP00000384646:A398D|.	ENSP00000374611:A392D|.	A|P	-|-	2|1	0|0	HEATR5A|HEATR5A	30925529|30925529	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.151000|0.151000	0.21798|0.21798	3.488000|3.488000	0.53229|0.53229	1.507000|1.507000	0.48752|0.48752	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.373	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		37	70	1	0	2.05212e-20	1	2.27512e-20	37	70				
ZNF525	170958	broad.mit.edu	37	19	53884662	53884662	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53884662G>A	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Missense_Mutation_p.G277D|ZNF525_ENST00000467003.1_Missense_Mutation_p.G241D|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						AATGAGTGTGGCAAGTCCTTC	0.418																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(721-723)gGc>gAc		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884662G>A	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884662G>A	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.G277D	p.G241D							4	923	+								Q8TF23	Missense_Mutation	SNP	ENST00000355326.3	37	c.722G>A		.	.	.	.	.	.	.	.	.	.	G	14.71	2.616967	0.46736	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	T;T	0.01430	4.9;4.9	1.71	0.568	0.17333	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56288	-0.8004	6	0.49607	T	0.09	.	6.9553	0.24568	0.1627:0.0:0.8373:0.0	.	.	.	.	D	277;241	ENSP00000417696:G277D;ENSP00000419136:G241D	ENSP00000419136:G241D	G	+	2	0	ZNF525	58576474	0.993000	0.37304	0.014000	0.15608	0.128000	0.20619	2.080000	0.41586	0.055000	0.16094	0.298000	0.19748	GGC		0.418	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		30	49	0	0	0	1	0	30	49				
KCNH4	23415	broad.mit.edu	37	17	40321646	40321646	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40321646C>T	ENST00000264661.3	-	9	1771	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R480H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	480					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGAGTACATGCGCTGGATGAT	0.667																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1438-1440)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4							89.0	72.0	78.0					17																	40321646		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321646C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1439G>A	17.37:g.40321646C>T	ENSP00000264661:p.Arg480His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R480H	p.R480H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1771	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	480						Missense_Mutation	SNP	ENST00000264661.3	37	c.1439G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236536	0.95240	.	.	ENSG00000089558	ENST00000264661	D	0.98044	-4.68	4.36	4.36	0.52297	.	0.000000	0.37348	N	0.002139	D	0.98883	0.9622	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.99705	1.1005	10	0.87932	D	0	.	17.084	0.86605	0.0:1.0:0.0:0.0	.	480	Q9UQ05	KCNH4_HUMAN	H	480	ENSP00000264661:R480H	ENSP00000264661:R480H	R	-	2	0	KCNH4	37575172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.255000	0.74692	0.462000	0.41574	CGC		0.667	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		19	22	0	0	0	1	0	19	22				
PRKCE	5581	broad.mit.edu	37	2	46203588	46203588	+	Missense_Mutation	SNP	C	C	T	rs144454815		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:46203588C>T	ENST00000306156.3	+	3	760	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	145					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAATGAAGAGCGTGTGTTCAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		20605	0.0		0.001	False		,,,				2504	0.0					ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(433-435)Cgt>Tgt		protein kinase C, epsilon							71.0	78.0	75.0					2																	46203588		2150	4247	6397	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46203588C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.433C>T	2.37:g.46203588C>T	ENSP00000306124:p.Arg145Cys						p.R145C	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		3	760	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	145					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.433C>T	CCDS1824.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.3	4.398145	0.83120	.	.	ENSG00000171132	ENST00000306156	T	0.70282	-0.47	4.33	4.33	0.51752	.	0.125410	0.49305	D	0.000159	T	0.70579	0.3240	M	0.72353	2.195	0.80722	D	1	P	0.50369	0.934	B	0.40375	0.327	T	0.78723	-0.2093	10	0.72032	D	0.01	.	17.3732	0.87384	0.0:1.0:0.0:0.0	.	145	Q02156	KPCE_HUMAN	C	145	ENSP00000306124:R145C	ENSP00000306124:R145C	R	+	1	0	PRKCE	46057092	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	4.143000	0.58051	2.388000	0.81334	0.563000	0.77884	CGT		0.577	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			33	36	0	0	0	1	0	33	36				
KIAA1683	80726	broad.mit.edu	37	19	18375974	18375974	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18375974G>A	ENST00000600328.3	-	3	2569	c.2376C>T	c.(2374-2376)agC>agT	p.S792S	KIAA1683_ENST00000600359.3_Silent_p.S746S|KIAA1683_ENST00000392413.4_Silent_p.S792S			Q9H0B3	K1683_HUMAN	KIAA1683	792						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGGTGGGGCGCTGAGGCCAC	0.682																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2374-2376)agC>agT		KIAA1683							86.0	90.0	89.0					19																	18375974		2203	4299	6502	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18375974G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2376C>T	19.37:g.18375974G>A						KIAA1683_ENST00000600359.2_Silent_p.S746S|KIAA1683_ENST00000600328.2_Silent_p.S792S	p.S792S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	2591	-			792					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2376C>T	CCDS32958.1																																																																																				0.682	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			44	72	0	0	0	1	0	44	72				
BSCL2	26580	broad.mit.edu	37	11	62458558	62458558	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62458558G>A	ENST00000403550.1	-	8	1292	c.869C>T	c.(868-870)gCt>gTt	p.A290V	BSCL2_ENST00000278893.7_Missense_Mutation_p.L243F|BSCL2_ENST00000360796.5_Missense_Mutation_p.A354V|BSCL2_ENST00000407022.3_Missense_Mutation_p.A290V|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.A354V|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Missense_Mutation_p.A290V|BSCL2_ENST00000433053.1_Missense_Mutation_p.A354V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	290					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGGCTGATGAGCAGAGATCCT	0.537																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						c.(1060-1062)gCt>gTt		Berardinelli-Seip congenital lipodystrophy 2 (seipin)							119.0	95.0	103.0					11																	62458558		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458558G>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.869C>T	11.37:g.62458558G>A	ENSP00000385561:p.Ala290Val					BSCL2_ENST00000407022.3_Missense_Mutation_p.A290V|BSCL2_ENST00000421906.1_Missense_Mutation_p.A290V|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.A290V|BSCL2_ENST00000360796.5_Missense_Mutation_p.A354V|BSCL2_ENST00000278893.7_Missense_Mutation_p.L243F|BSCL2_ENST00000405837.1_Missense_Mutation_p.A354V	p.A354V			Q96G97	BSCL2_HUMAN			9	1617	-			290					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.1061C>T	CCDS8031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.988019|1.988019	0.35036|0.35036	.|.	.|.	ENSG00000168000|ENSG00000168000	ENST00000449636;ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906|ENST00000278893	D;D;D;D;D;D|D	0.89681|0.91351	-2.55;-2.46;-2.46;-2.42;-2.42;-2.42|-2.83	5.1|5.1	0.765|0.765	0.18470|0.18470	.|.	1.158180|.	0.06753|.	U|.	0.780399|.	D|D	0.82504|0.82504	0.5051|0.5051	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|B	0.25904|0.22683	0.049;0.137;0.049|0.073	B;B;B|B	0.25140|0.24848	0.01;0.058;0.01|0.056	T|T	0.68716|0.68716	-0.5335|-0.5335	9|8	0.36615|0.35671	T|T	0.2|0.21	-21.4586|-21.4586	3.7329|3.7329	0.08500|0.08500	0.0903:0.3199:0.4357:0.154|0.0903:0.3199:0.4357:0.154	.|.	290;354;290|243	Q53EN3;G3XAE4;Q96G97|Q96G97-3	.;.;BSCL2_HUMAN|.	V|F	39;354;354;354;290;290;290|243	ENSP00000385332:A354V;ENSP00000414002:A354V;ENSP00000354032:A354V;ENSP00000385561:A290V;ENSP00000384080:A290V;ENSP00000413209:A290V|ENSP00000278893:L243F	ENSP00000354032:A354V|ENSP00000278893:L243F	A|L	-|-	2|1	0|0	BSCL2|BSCL2	62215134|62215134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.175000|0.175000	0.22909|0.22909	0.377000|0.377000	0.20552|0.20552	0.154000|0.154000	0.19237|0.19237	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.537	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		20	28	0	0	0	1	0	20	28				
TMEM184A	202915	broad.mit.edu	37	7	1586670	1586670	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1586670G>A	ENST00000297477.5	-	9	1476	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	387					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GCTGGGGTGGGTGCCGGGCCT	0.711																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1159-1161)aCc>aTc		transmembrane protein 184A							19.0	24.0	22.0					7																	1586670		2185	4290	6475	SO:0001583	missense	202915					integral to membrane		g.chr7:1586670G>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1160C>T	7.37:g.1586670G>A	ENSP00000297477:p.Thr387Ile						p.T387I	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1476	-		Ovarian(82;0.0253)	387					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.1160C>T	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	6.132	0.392503	0.11638	.	.	ENSG00000164855	ENST00000297477	T	0.32272	1.46	5.47	3.64	0.41730	.	9.644250	0.01755	U	0.030176	T	0.26195	0.0639	L	0.40543	1.245	0.09310	N	1	B	0.33022	0.394	B	0.23716	0.048	T	0.18903	-1.0322	10	0.36615	T	0.2	-30.6714	6.5738	0.22553	0.1398:0.0:0.6022:0.258	.	387	Q6ZMB5	T184A_HUMAN	I	387	ENSP00000297477:T387I	ENSP00000297477:T387I	T	-	2	0	TMEM184A	1553196	0.505000	0.26131	0.080000	0.20451	0.310000	0.27922	1.441000	0.35035	0.659000	0.30945	0.549000	0.68633	ACC		0.711	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		6	6	0	0	0	1	0	6	6				
RYK	6259	broad.mit.edu	37	3	133941272	133941272	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133941272G>A	ENST00000296084.4	-	3	337	c.338C>T	c.(337-339)gCg>gTg	p.A113V	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	112	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CTTGGACTTCGCATGCCAGGT	0.478																																						ENST00000296084.4																			0				lung(1)|ovary(3)	4						c.(337-339)gCg>gTg		receptor-like tyrosine kinase							88.0	83.0	85.0					3																	133941272		1958	4165	6123	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133941272G>A	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000296084.4:c.338C>T	3.37:g.133941272G>A	ENSP00000296084:p.Ala113Val					RYK_ENST00000427044.2_5'UTR	p.A113V	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN			3	337	-			112			WIF.		Q04696	Missense_Mutation	SNP	ENST00000296084.4	37	c.338C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069447|4.069447	0.76301|0.76301	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084|ENST00000460933	T|.	0.52754|.	0.65|.	5.95|5.95	5.95|5.95	0.96441|0.96441	WIF domain (4);|.	0.053385|.	0.85682|.	D|.	0.000000|.	T|.	0.60715|.	0.2290|.	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	D;P|.	0.53885|.	0.963;0.954|.	P;B|.	0.45829|.	0.494;0.361|.	T|.	0.52734|.	-0.8536|.	10|.	0.32370|.	T|.	0.25|.	-5.2128|-5.2128	19.1462|19.1462	0.93469|0.93469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112;112|.	P34925;P34925-2|.	RYK_HUMAN;.|.	V|X	113|95	ENSP00000296084:A113V|.	ENSP00000296084:A113V|.	A|R	-|-	2|1	0|2	RYK|RYK	135423962|135423962	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.894000|0.894000	0.52154|0.52154	8.765000|8.765000	0.91724|0.91724	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GCG|CGA		0.478	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		30	50	0	0	0	1	0	30	50				
ARHGEF17	9828	broad.mit.edu	37	11	73075239	73075239	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73075239G>A	ENST00000263674.3	+	17	5706	c.5356G>A	c.(5356-5358)Gtg>Atg	p.V1786M		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1786					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCAGGTGTTTGTGTCTCTGGC	0.562																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5356-5358)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 17							162.0	164.0	163.0					11																	73075239		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73075239G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5356G>A	11.37:g.73075239G>A	ENSP00000263674:p.Val1786Met						p.V1786M	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			17	5706	+			1786					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5356G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322047	0.81580	.	.	ENSG00000110237	ENST00000263674	T	0.39592	1.07	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.065981	0.64402	D	0.000010	T	0.52869	0.1761	M	0.89095	3.005	0.52501	D	0.99995	P	0.47350	0.894	B	0.43950	0.437	T	0.63265	-0.6676	10	0.87932	D	0	-18.6066	10.5612	0.45146	0.1463:0.0:0.8537:0.0	.	1786	Q96PE2	ARHGH_HUMAN	M	1786	ENSP00000263674:V1786M	ENSP00000263674:V1786M	V	+	1	0	ARHGEF17	72752887	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.439000	0.73430	2.746000	0.94184	0.655000	0.94253	GTG		0.562	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		59	71	0	0	0	1	0	59	71				
UNC13B	10497	broad.mit.edu	37	9	35399172	35399172	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35399172C>T	ENST00000378495.3	+	33	4064	c.3842C>T	c.(3841-3843)gCc>gTc	p.A1281V	UNC13B_ENST00000396787.1_Missense_Mutation_p.A1293V|UNC13B_ENST00000378496.4_Missense_Mutation_p.A1281V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1281	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCTCTTTGCCACTGTGTGT	0.562																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3841-3843)gCc>gTc		unc-13 homolog B (C. elegans)							174.0	158.0	163.0					9																	35399172		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35399172C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3842C>T	9.37:g.35399172C>T	ENSP00000367756:p.Ala1281Val					UNC13B_ENST00000378496.4_Missense_Mutation_p.A1281V|UNC13B_ENST00000396787.1_Missense_Mutation_p.A1293V	p.A1281V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		33	4064	+	all_epithelial(49;0.212)		1281			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3842C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	36	5.724970	0.96847	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.76060	-0.99;-0.99;-0.99	6.08	6.08	0.98989	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88024	0.6326	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.943;0.999	D	0.88852	0.3320	10	0.87932	D	0	-16.2104	17.5802	0.87965	0.0:1.0:0.0:0.0	.	1281;1281	F8W8M9;O14795	.;UN13B_HUMAN	V	1293;1281;1281;868	ENSP00000380006:A1293V;ENSP00000367756:A1281V;ENSP00000367757:A1281V	ENSP00000367756:A1281V	A	+	2	0	UNC13B	35389172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.035000	0.76517	2.894000	0.99253	0.655000	0.94253	GCC		0.562	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		41	66	0	0	0	1	0	41	66				
LPHN3	23284	broad.mit.edu	37	4	62849225	62849225	+	Missense_Mutation	SNP	G	G	A	rs147399182	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:62849225G>A	ENST00000514591.1	+	18	3265	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	LPHN3_ENST00000512091.2_Missense_Mutation_p.R979H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R979H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R979H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	966					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAACATTCACGTAGGAAATAC	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		15774	0.0		0.002	False		,,,				2504	0.0					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2935-2937)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3876		0,0,1938	217.0	207.0	210.0		2936	5.7	0.8	4	dbSNP_134	210	3,8295		0,3,4146	yes	missense	LPHN3	NM_015236.4	29	0,3,6084	AA,AG,GG		0.0362,0.0,0.0246	probably-damaging	979/1470	62849225	3,12171	1938	4149	6087	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849225G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2936G>A	4.37:g.62849225G>A	ENSP00000422533:p.Arg979His					LPHN3_ENST00000508693.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R979H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R979H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R979H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1047H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R979H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R979H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R979H	p.R979H			Q9HAR2	LPHN3_HUMAN			18	3683	+			966					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2936G>A	CCDS54768.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	33	5.283207	0.95489	0.0	3.62E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.62821	-0.6773	10	0.87932	D	0	.	19.8917	0.96932	0.0:0.0:1.0:0.0	.	979;966;979	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	979;979;1047;1047;979;979;966;979;1047;1047;1047;979;979;979;1047;1047;979	ENSP00000423388:R979H;ENSP00000422533:R979H;ENSP00000423787:R1047H;ENSP00000425033:R1047H;ENSP00000424120:R979H;ENSP00000439831:R979H;ENSP00000421476:R1047H;ENSP00000424030:R1047H;ENSP00000421372:R1047H;ENSP00000425201:R979H;ENSP00000423434:R979H;ENSP00000421627:R979H;ENSP00000420931:R1047H;ENSP00000425884:R1047H;ENSP00000424258:R979H	ENSP00000280009:R979H	R	+	2	0	LPHN3	62531820	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	9.869000	0.99810	2.705000	0.92388	0.591000	0.81541	CGT		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			13	78	0	0	0	1	0	13	78				
ECH1	1891	broad.mit.edu	37	19	39308102	39308102	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39308102C>T	ENST00000221418.4	-	4	695	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	AC104534.2_ENST00000594558.1_RNA	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	155					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTCTCGATGACGTTGAAGGTC	0.592																																						ENST00000221418.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(463-465)Gtc>Atc		enoyl CoA hydratase 1, peroxisomal							80.0	70.0	73.0					19																	39308102		2203	4300	6503	SO:0001583	missense	1891							g.chr19:39308102C>T	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.463G>A	19.37:g.39308102C>T	ENSP00000221418:p.Val155Ile						p.V155I	NM_001398.2	NP_001389.2			Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		4	695	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)							A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	c.463G>A	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.642272	0.29246	.	.	ENSG00000104823	ENST00000221418	T	0.67171	-0.25	5.04	2.86	0.33363	Crotonase, core (1);	0.000000	0.64402	D	0.000001	T	0.54951	0.1890	L	0.52905	1.665	0.58432	D	0.999998	P;B	0.36577	0.558;0.086	B;B	0.26969	0.026;0.075	T	0.54596	-0.8270	10	0.46703	T	0.11	.	11.0063	0.47635	0.0:0.8417:0.0:0.1583	.	155;155	B4DVS4;Q13011	.;ECH1_HUMAN	I	155	ENSP00000221418:V155I	ENSP00000221418:V155I	V	-	1	0	ECH1	43999942	1.000000	0.71417	0.573000	0.28510	0.058000	0.15608	5.124000	0.64709	0.627000	0.30340	0.491000	0.48974	GTC		0.592	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			4	13	0	0	0	1	0	4	13				
RPL5	6125	broad.mit.edu	37	1	93300375	93300375	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93300375G>A	ENST00000370321.3	+	4	319	c.229G>A	c.(229-231)Gca>Aca	p.A77T	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GATAGTCTGCGCAGCGTATGC	0.453																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(229-231)Gca>Aca		ribosomal protein L5							116.0	118.0	117.0					1																	93300375		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300375G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.229G>A	1.37:g.93300375G>A	ENSP00000359345:p.Ala77Thr						p.A77T	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	319	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	77					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.229G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492721	0.84962	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.77750	-1.12	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.80422	2.495	0.80722	D	1	B	0.29115	0.233	B	0.25759	0.063	T	0.75728	-0.3216	10	0.52906	T	0.07	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	77	P46777	RL5_HUMAN	T	27;77;27	ENSP00000359345:A77T	ENSP00000359338:A27T	A	+	1	0	RPL5	93072963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.849000	0.99510	2.398000	0.81561	0.655000	0.94253	GCA		0.453	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	85	0	0	0	1	0	5	85				
C2orf44	80304	broad.mit.edu	37	2	24261860	24261860	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24261860G>T	ENST00000295148.4	-	2	562	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	C2orf44_ENST00000406895.3_Missense_Mutation_p.L169M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	169									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCCTCAGGCCATCCTGG	0.527			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(505-507)Ctg>Atg		chromosome 2 open reading frame 44							54.0	48.0	50.0					2																	24261860		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261860G>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.505C>A	2.37:g.24261860G>T	ENSP00000295148:p.Leu169Met					C2orf44_ENST00000406895.3_Missense_Mutation_p.L169M	p.L169M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	562	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		169					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.505C>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597798	0.46318	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.51574	3.43;3.43;0.7	5.24	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);	0.346455	0.32028	N	0.006689	T	0.23410	0.0566	N	0.08118	0	0.25133	N	0.990556	P;P	0.45348	0.856;0.856	B;B	0.34242	0.178;0.178	T	0.19778	-1.0295	10	0.51188	T	0.08	-1.025	11.5955	0.50970	0.0:0.0:0.6531:0.3469	.	169;169	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	M	169	ENSP00000295148:L169M;ENSP00000385816:L169M;ENSP00000413426:L169M	ENSP00000295148:L169M	L	-	1	2	C2orf44	24115364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.864000	0.75494	2.618000	0.88619	0.655000	0.94253	CTG		0.527	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		10	13	1	0	6.40141e-05	1	6.5734e-05	10	13				
MTIF2	4528	broad.mit.edu	37	2	55481258	55481258	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55481258T>C	ENST00000263629.4	-	7	898	c.583A>G	c.(583-585)Aca>Gca	p.T195A	MTIF2_ENST00000403721.1_Missense_Mutation_p.T195A|MTIF2_ENST00000394600.3_Missense_Mutation_p.T195A|MTIF2_ENST00000446660.1_5'Flank	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	195	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TCAAGTAATGTCGTTTTCCCG	0.443																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(583-585)Aca>Gca		mitochondrial translational initiation factor 2							114.0	101.0	106.0					2																	55481258		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55481258T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.583A>G	2.37:g.55481258T>C	ENSP00000263629:p.Thr195Ala					MTIF2_ENST00000263629.4_Missense_Mutation_p.T195A|MTIF2_ENST00000403721.1_Missense_Mutation_p.T195A	p.T195A	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			8	1319	-			195			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.583A>G	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	T	33	5.199340	0.94997	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.69806	-0.43;-0.43;-0.43	5.76	5.76	0.90799	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.76328	2.33	0.80722	D	1	P	0.46784	0.884	P	0.55749	0.783	T	0.81433	-0.0935	10	0.87932	D	0	-13.1424	16.0767	0.80974	0.0:0.0:0.0:1.0	.	195	P46199	IF2M_HUMAN	A	195	ENSP00000384481:T195A;ENSP00000263629:T195A;ENSP00000378099:T195A	ENSP00000263629:T195A	T	-	1	0	MTIF2	55334762	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	6.160000	0.71862	2.197000	0.70478	0.533000	0.62120	ACA		0.443	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		4	84	0	0	0	1	0	4	84				
THEM5	284486	broad.mit.edu	37	1	151823652	151823652	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151823652C>T	ENST00000368817.5	-	3	472	c.341G>A	c.(340-342)cGc>cAc	p.R114H	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	114					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGAAGATGCGACAGTCACC	0.522																																						ENST00000368817.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(340-342)cGc>cAc		thioesterase superfamily member 5							148.0	140.0	143.0					1																	151823652		2203	4300	6503	SO:0001583	missense	284486						hydrolase activity	g.chr1:151823652C>T	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.341G>A	1.37:g.151823652C>T	ENSP00000357807:p.Arg114His						p.R114H	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	472	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		114					Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	c.341G>A	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766086|3.766086	0.69878|0.69878	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000453881|ENST00000368817	.|T	.|0.22945	.|1.93	5.97|5.97	4.11|4.11	0.48088|0.48088	.|.	.|0.115026	.|0.64402	.|D	.|0.000011	T|T	0.35566|0.35566	0.0936|0.0936	M|M	0.80847|0.80847	2.515|2.515	0.31866|0.31866	N|N	0.620395|0.620395	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	T|T	0.34477|0.34477	-0.9827|-0.9827	5|10	.|0.42905	.|T	.|0.14	-0.8048|-0.8048	9.4847|9.4847	0.38922|0.38922	0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633	.|.	.|114	.|Q8N1Q8	.|THEM5_HUMAN	T|H	61|114	.|ENSP00000357807:R114H	.|ENSP00000357807:R114H	A|R	-|-	1|2	0|0	THEM5|THEM5	150090276|150090276	0.983000|0.983000	0.35010|0.35010	0.605000|0.605000	0.28930|0.28930	0.870000|0.870000	0.49936|0.49936	2.441000|2.441000	0.44864|0.44864	0.865000|0.865000	0.35603|0.35603	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.522	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		8	63	0	0	0	1	0	8	63				
SMURF1	57154	broad.mit.edu	37	7	98634699	98634699	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98634699C>T	ENST00000361125.1	-	16	2197	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	SMURF1_ENST00000361368.2_Silent_p.K600K|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	626	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCTCCAGTTCCTTCTGGTCAA	0.552											OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(1876-1878)aaG>aaA		SMAD specific E3 ubiquitin protein ligase 1							134.0	122.0	126.0					7																	98634699		2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98634699C>T	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1878G>A	7.37:g.98634699C>T			OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1337	SMURF1_ENST00000361368.2_Silent_p.K600K|AC004893.11_ENST00000468960.2_RNA	p.K626K	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		16	2197	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		626			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1878G>A	CCDS34690.1																																																																																				0.552	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		25	51	0	0	0	1	0	25	51				
ABCA2	20	broad.mit.edu	37	9	139904576	139904576	+	Splice_Site	SNP	G	G	A	rs368639386		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139904576G>A	ENST00000371605.3	-	41	6498	c.6351C>T	c.(6349-6351)agC>agT	p.S2117S	ABCA2_ENST00000341511.6_Splice_Site_p.S2118S|ABCA2_ENST00000265662.5_Splice_Site_p.S2118S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2117	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTTCAGCACGCTGGGGACAC	0.711																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.e42-1		ATP-binding cassette, sub-family A (ABC1), member 2							9.0	11.0	10.0					9																	139904576		2095	4190	6285	SO:0001630	splice_region_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904576G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6351-1C>T	9.37:g.139904576G>A						ABCA2_ENST00000371605.3_Splice_Site_p.S2117_splice|ABCA2_ENST00000341511.6_Splice_Site_p.S2118_splice	p.S2118_splice			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6501	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2117			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Splice_Site	SNP	ENST00000371605.3	37	c.6353_splice																																																																																					0.711	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	Silent	4	3	0	0	0	1	0	4	3				
GPR15	2838	broad.mit.edu	37	3	98251277	98251277	+	Missense_Mutation	SNP	G	G	A	rs201385578		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:98251277G>A	ENST00000284311.3	+	1	535	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	134					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCGCTACCTGGCCATTGTGTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20505	0.0		0.001	False		,,,				2504	0.0					ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(400-402)Gcc>Acc		G protein-coupled receptor 15							69.0	60.0	63.0					3																	98251277		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251277G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.400G>A	3.37:g.98251277G>A	ENSP00000284311:p.Ala134Thr						p.A134T	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	535	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	134					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.400G>A	CCDS2931.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.0	4.357401	0.82243	.	.	ENSG00000154165	ENST00000284311	T	0.53423	0.62	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.73118	0.3546	M	0.91612	3.225	0.45046	D	0.998063	D	0.89917	1.0	D	0.85130	0.997	T	0.79533	-0.1764	10	0.87932	D	0	-19.2841	12.3767	0.55283	0.0:0.0:0.83:0.17	.	134	P49685	GPR15_HUMAN	T	134	ENSP00000284311:A134T	ENSP00000284311:A134T	A	+	1	0	GPR15	99733967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	1.368000	0.46115	0.591000	0.81541	GCC		0.537	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			16	40	0	0	0	1	0	16	40				
PDE4DIP	9659	broad.mit.edu	37	1	145075750	145075750	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145075750C>T	ENST00000530740.1	-	1	151	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R38Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGAGGGGTTCGCGTCGCGTC	0.731			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(112-114)cGa>cAa		phosphodiesterase 4D interacting protein							41.0	53.0	49.0					1																	145075750		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075750C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.113G>A	1.37:g.145075750C>T	ENSP00000435654:p.Arg38Gln					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R38Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R38Q	p.R38Q			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	151	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.113G>A		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262777	0.39995	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16196	3.68;3.65;2.36	3.4	-2.83	0.05769	.	.	.	.	.	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	B;B	0.34181	0.44;0.005	B;B	0.16722	0.016;0.001	T	0.39941	-0.9589	9	0.87932	D	0	.	4.0227	0.09673	0.0:0.3113:0.3466:0.3422	.	38;38	Q5TB27;E9PJ64	.;.	Q	38	ENSP00000435654:R38Q;ENSP00000358366:R38Q;ENSP00000358354:R38Q	ENSP00000358351:R38Q	R	-	2	0	PDE4DIP	143787107	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.657000	0.05335	-0.337000	0.08426	0.511000	0.50034	CGA		0.731	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		4	57	0	0	0	1	0	4	57				
PRKCSH	5589	broad.mit.edu	37	19	11560163	11560163	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11560163C>T	ENST00000589838.1	+	16	1523	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	PRKCSH_ENST00000252455.2_Missense_Mutation_p.T508M|PRKCSH_ENST00000587327.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000591462.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T515M|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T505M			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	508					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.T508M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GAGCTGATGACGCCAGCCGCC	0.667																																						ENST00000252455.2																			1	Substitution - Missense(1)	p.T508M(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1522-1524)aCg>aTg		protein kinase C substrate 80K-H							57.0	57.0	57.0					19																	11560163		2203	4299	6502	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11560163C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1523C>T	19.37:g.11560163C>T	ENSP00000465461:p.Thr508Met					PRKCSH_ENST00000587327.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000589838.1_Missense_Mutation_p.T508M|PRKCSH_ENST00000591462.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T505M|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T515M	p.T508M	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1859	+			508					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1523C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189822	0.57909	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	D;D	0.84944	-1.92;-1.92	3.84	2.81	0.32909	Mannose-6-phosphate receptor, binding (1);	0.120946	0.53938	D	0.000043	D	0.92672	0.7671	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.92491	0.6000	10	0.87932	D	0	-17.1886	9.9607	0.41695	0.0:0.8969:0.0:0.1031	.	515;515;505;508	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	M	508;505	ENSP00000252455:T508M;ENSP00000395616:T505M	ENSP00000252455:T508M	T	+	2	0	PRKCSH	11421163	0.987000	0.35691	0.011000	0.14972	0.518000	0.34316	3.661000	0.54503	0.815000	0.34398	0.655000	0.94253	ACG		0.667	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			25	43	0	0	0	1	0	25	43				
PFKP	5214	broad.mit.edu	37	10	3150938	3150938	+	Missense_Mutation	SNP	G	G	A	rs142802088		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3150938G>A	ENST00000381125.4	+	9	992	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	PFKP_ENST00000381075.2_Missense_Mutation_p.G298R	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	306	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GACCATCCTCGGGCACGTGCA	0.567																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(892-894)Ggg>Agg		phosphofructokinase, platelet		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	152.0	134.0	140.0		892,916	5.2	0.3	10	dbSNP_134	140	0,8600		0,0,4300	no	missense,missense	PFKP	NM_001242339.1,NM_002627.4	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	298/777,306/785	3150938	1,13005	2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3150938G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.916G>A	10.37:g.3150938G>A	ENSP00000370517:p.Gly306Arg					PFKP_ENST00000381125.4_Missense_Mutation_p.G306R	p.G298R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	11	1116	+			306					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.892G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129056	0.94473	2.27E-4	0.0	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	D;D;D	0.88586	-2.4;-2.4;-2.4	5.2	5.2	0.72013	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99671	1.0996	10	0.87932	D	0	.	19.0968	0.93255	0.0:0.0:1.0:0.0	.	298;298;306	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	R	306;295;298;90	ENSP00000370517:G306R;ENSP00000370465:G298R;ENSP00000408858:G90R	ENSP00000370465:G298R	G	+	1	0	PFKP	3140938	1.000000	0.71417	0.286000	0.24833	0.881000	0.50899	9.577000	0.98196	2.596000	0.87737	0.561000	0.74099	GGG		0.567	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		21	42	0	0	0	1	0	21	42				
APBB3	10307	broad.mit.edu	37	5	139942036	139942036	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139942036G>T	ENST00000357560.4	-	5	843	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.L134M|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.L134M|APBB3_ENST00000412920.3_Missense_Mutation_p.L134M|APBB3_ENST00000358580.5_Missense_Mutation_p.L134M|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000508496.2_De_novo_Start_OutOfFrame|APBB3_ENST00000354402.5_Missense_Mutation_p.L134M	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	134	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGTGCCAGGTCCTCTTCA	0.587																																						ENST00000508496.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11								amyloid beta (A4) precursor protein-binding, family B, member 3							135.0	140.0	138.0					5																	139942036		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139942036G>T	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.400C>A	5.37:g.139942036G>T	ENSP00000350171:p.Leu134Met					APBB3_ENST00000412920.3_Missense_Mutation_p.L134M|APBB3_ENST00000511201.2_Missense_Mutation_p.L134M|APBB3_ENST00000356738.2_Missense_Mutation_p.L134M|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000357560.4_Missense_Mutation_p.L134M|APBB3_ENST00000354402.5_Missense_Mutation_p.L134M|APBB3_ENST00000358580.5_Missense_Mutation_p.L134M				O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	387	-								B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Translation_Start_Site	SNP	ENST00000357560.4	37		CCDS4229.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105994	0.77096	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.12	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.38188	0.1031	L	0.56124	1.755	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.03933	-1.0991	9	.	.	.	-6.15	11.2425	0.48977	0.1464:0.0:0.8536:0.0	.	134;134	O95704-2;O95704-3	.;.	M	134	ENSP00000351389:L134M;ENSP00000349177:L134M;ENSP00000346378:L134M;ENSP00000350171:L134M;ENSP00000402591:L134M;ENSP00000424317:L134M	.	L	-	1	2	APBB3	139922220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.369000	0.52365	2.400000	0.81607	0.650000	0.86243	CTG		0.587	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		46	87	1	0	6.27289e-28	1	7.01837e-28	46	87				
OR5T2	219464	broad.mit.edu	37	11	55999633	55999633	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55999633C>T	ENST00000313264.4	-	1	1104	c.1029G>A	c.(1027-1029)atG>atA	p.M343I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTTTCCCAAACATTTTTTTCA	0.318																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(1027-1029)atG>atA		olfactory receptor, family 5, subfamily T, member 2							43.0	42.0	43.0					11																	55999633		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999633C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1029G>A	11.37:g.55999633C>T	ENSP00000323688:p.Met343Ile						p.M343I	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	1104	-	Esophageal squamous(21;0.00448)		343					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.1029G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	6.612	0.481376	0.12581	.	.	ENSG00000181718	ENST00000313264	T	0.35789	1.29	4.61	-4.96	0.03038	.	0.637254	0.12637	U	0.451647	T	0.10380	0.0254	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35076	-0.9803	10	0.11485	T	0.65	.	5.6053	0.17377	0.5792:0.1711:0.0:0.2497	.	343	Q8NGG2	OR5T2_HUMAN	I	343	ENSP00000323688:M343I	ENSP00000323688:M343I	M	-	3	0	OR5T2	55756209	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.859000	0.01657	-0.468000	0.06922	-0.804000	0.03201	ATG		0.318	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		18	33	0	0	0	1	0	18	33				
C10orf11	83938	broad.mit.edu	37	10	77795870	77795870	+	Missense_Mutation	SNP	C	C	A	rs528847009		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:77795870C>A	ENST00000372499.1	+	2	367	c.152C>A	c.(151-153)aCc>aAc	p.T51N	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	51					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					AGACTGCATACCTTAACCCTC	0.577											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(151-153)aCc>aAc		chromosome 10 open reading frame 11							172.0	142.0	152.0					10																	77795870		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77795870C>A	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.152C>A	10.37:g.77795870C>A	ENSP00000361577:p.Thr51Asn		OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	C10orf11_ENST00000593699.1_3'UTR	p.T51N	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			2	367	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		51					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.152C>A	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728727	0.69074	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.34859	1.34	4.83	4.83	0.62350	.	0.104587	0.64402	D	0.000005	T	0.56804	0.2010	L	0.56396	1.775	0.52501	D	0.999956	D	0.65815	0.995	D	0.71184	0.972	T	0.55939	-0.8061	10	0.44086	T	0.13	-13.3621	18.2759	0.90083	0.0:1.0:0.0:0.0	.	51	Q9H2I8	CJ011_HUMAN	N	79;51	ENSP00000361577:T51N	ENSP00000346310:T79N	T	+	2	0	C10orf11	77465876	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.382000	0.79729	2.387000	0.81309	0.462000	0.41574	ACC		0.577	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		12	24	1	0	6.40141e-05	1	6.5734e-05	12	24				
DNTTIP1	116092	broad.mit.edu	37	20	44433838	44433838	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44433838C>T	ENST00000372622.3	+	9	725	c.657C>T	c.(655-657)gcC>gcT	p.A219A		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	219						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GATCTCGAGCCAACAAGTAAG	0.448																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(655-657)gcC>gcT		deoxynucleotidyltransferase, terminal, interacting protein 1							186.0	190.0	188.0					20																	44433838		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44433838C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.657C>T	20.37:g.44433838C>T							p.A219A	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			9	725	+		Myeloproliferative disorder(115;0.0122)	219					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.657C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.297932|1.297932	0.23650|0.23650	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000435014|ENST00000456939	.|.	.|.	.|.	4.86|4.86	3.89|3.89	0.44902|0.44902	.|.	.|.	.|.	.|.	.|.	T|.	0.54631|.	0.1870|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51140|.	-0.8743|.	4|.	.|.	.|.	.|.	-11.1775|-11.1775	5.7038|5.7038	0.17897|0.17897	0.3509:0.5587:0.0:0.0905|0.3509:0.5587:0.0:0.0905	.|.	.|.	.|.	.|.	L|X	146|170	.|.	.|.	P|Q	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43867245|43867245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.745000|0.745000	0.26259|0.26259	1.209000|1.209000	0.43321|0.43321	0.514000|0.514000	0.50259|0.50259	CCA|CAA		0.448	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		20	108	0	0	0	1	0	20	108				
NDST2	8509	broad.mit.edu	37	10	75565362	75565362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75565362G>A	ENST00000309979.6	-	8	2285	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	RP11-574K11.31_ENST00000603027.1_Nonsense_Mutation_p.R577*|NDST2_ENST00000299641.4_Nonsense_Mutation_p.R454*			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	577	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGGGGGCTTCGCTCCTGAGGG	0.512																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1360-1362)Cga>Tga		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							46.0	43.0	44.0					10																	75565362		2203	4300	6503	SO:0001587	stop_gained	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75565362G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1729C>T	10.37:g.75565362G>A	ENSP00000310657:p.Arg577*					NDST2_ENST00000309979.6_Nonsense_Mutation_p.R577*	p.R454*	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			9	2330	-	Prostate(51;0.0112)		577			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Nonsense_Mutation	SNP	ENST00000309979.6	37	c.1360C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	46	12.628096	0.99684	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	.	.	.	5.8	4.89	0.63831	.	0.167885	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.1478	0.59472	0.0:0.0:0.5628:0.4372	.	.	.	.	X	577;454	.	ENSP00000299641:R454X	R	-	1	2	NDST2	75235368	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.815000	0.62634	1.423000	0.47198	0.650000	0.86243	CGA		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		9	10	0	0	0	1	0	9	10				
CYP4Z2P	163720	broad.mit.edu	37	1	47325376	47325376	+	RNA	SNP	C	C	T	rs9429100	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47325376C>T	ENST00000505841.1	-	0	1153					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										GTCGAGTAACCGGGATATGTT	0.468													C|||	219	0.04373	0.1596	0.0101	5008	,	,		21200	0.001		0.0	False		,,,				2504	0.0					ENST00000505841.1																			0																																																			0							g.chr1:47325376C>T	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325376C>T								NR_002788.2						0	1153	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.468	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		17	80	0	0	0	1	0	17	80				
FAM228A	653140	broad.mit.edu	37	2	24406394	24406394	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:24406394A>G	ENST00000295150.3	+	5	367	c.281A>G	c.(280-282)gAa>gGa	p.E94G	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	94																	GAACTTGAAGAAATAGAGAAG	0.433																																						ENST00000295150.3																			0											c.(280-282)gAa>gGa		family with sequence similarity 228, member A							63.0	58.0	60.0					2																	24406394		1853	4097	5950	SO:0001583	missense	653140							g.chr2:24406394A>G		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.281A>G	2.37:g.24406394A>G	ENSP00000295150:p.Glu94Gly					RP11-507M3.1_ENST00000584973.1_3'UTR	p.E94G	NM_001040710.1	NP_001035800.1					5	367	+									Missense_Mutation	SNP	ENST00000295150.3	37	c.281A>G	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.60|15.60	2.881848|2.881848	0.51908|0.51908	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150|ENST00000432434	T|.	0.61742|.	0.08|.	4.47|4.47	2.05|2.05	0.26809|0.26809	.|.	0.237591|.	0.32671|.	N|.	0.005794|.	T|T	0.42359|0.42359	0.1199|0.1199	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.30208|0.30208	-0.9986|-0.9986	10|5	0.87932|.	D|.	0|.	-12.0574|-12.0574	6.3829|6.3829	0.21544|0.21544	0.7925:0.0:0.2075:0.0|0.7925:0.0:0.2075:0.0	.|.	94|.	Q86W67|.	CB084_HUMAN|.	G|E	94|132	ENSP00000295150:E94G|.	ENSP00000295150:E94G|.	E|K	+|+	2|1	0|0	C2orf84|C2orf84	24259898|24259898	0.358000|0.358000	0.24947|0.24947	0.003000|0.003000	0.11579|0.11579	0.329000|0.329000	0.28539|0.28539	0.815000|0.815000	0.27253|0.27253	0.309000|0.309000	0.22966|0.22966	0.455000|0.455000	0.32223|0.32223	GAA|AAA		0.433	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		12	31	0	0	0	1	0	12	31				
AOC3	8639	broad.mit.edu	37	17	41003967	41003967	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41003967C>T	ENST00000308423.2	+	1	767	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	203			H -> R (in dbSNP:rs630079).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTCTACAAGCACCGGGGACG	0.592																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(607-609)Cac>Tac		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						24.0	24.0	24.0					17																	41003967		2202	4300	6502	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003967C>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.607C>T	17.37:g.41003967C>T	ENSP00000312326:p.His203Tyr						p.H203Y	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	767	+		Breast(137;0.000143)	203		H -> R (in dbSNP:rs630079).			B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.607C>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.087645	0.00034	.	.	ENSG00000131471	ENST00000308423	T	0.27890	1.64	3.69	1.54	0.23209	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	2.871800	0.01125	N	0.005871	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	0.999995	B	0.17852	0.024	B	0.20384	0.029	T	0.32455	-0.9906	10	0.02654	T	1	.	3.5104	0.07706	0.1845:0.4936:0.0:0.3219	.	203	Q16853	AOC3_HUMAN	Y	203	ENSP00000312326:H203Y	ENSP00000312326:H203Y	H	+	1	0	AOC3	38257493	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	1.092000	0.30927	0.459000	0.27016	0.491000	0.48974	CAC		0.592	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		5	22	0	0	0	1	0	5	22				
C16orf62	57020	broad.mit.edu	37	16	19640046	19640046	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19640046A>G	ENST00000251143.5	+	17	1483	c.1471A>G	c.(1471-1473)Aaa>Gaa	p.K491E	C16orf62_ENST00000417362.2_Missense_Mutation_p.K424E|C16orf62_ENST00000542263.1_Missense_Mutation_p.K513E|C16orf62_ENST00000448695.1_Missense_Mutation_p.K341E|C16orf62_ENST00000438132.3_Missense_Mutation_p.K580E|C16orf62_ENST00000543152.1_Missense_Mutation_p.K240E			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	491						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CGAAGCTTGGAAAGTCATCAC	0.358																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1738-1740)Aaa>Gaa		chromosome 16 open reading frame 62							113.0	106.0	108.0					16																	19640046		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19640046A>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1471A>G	16.37:g.19640046A>G	ENSP00000251143:p.Lys491Glu					C16orf62_ENST00000448695.1_Missense_Mutation_p.K341E|C16orf62_ENST00000543152.1_Missense_Mutation_p.K240E|C16orf62_ENST00000542263.1_Missense_Mutation_p.K513E|C16orf62_ENST00000417362.2_Missense_Mutation_p.K424E|C16orf62_ENST00000251143.5_Missense_Mutation_p.K491E	p.K580E	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			17	1786	+			491					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.1738A>G		.	.	.	.	.	.	.	.	.	.	A	23.9	4.471590	0.84533	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.58510	1.815	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.67818	-0.5572	9	.	.	.	-19.8885	16.1219	0.81365	1.0:0.0:0.0:0.0	.	513;491	F5H7K1;Q7Z3J2	.;CP062_HUMAN	E	580;513;491;424;341	ENSP00000400815:K580E;ENSP00000442468:K513E;ENSP00000251143:K491E;ENSP00000395973:K424E;ENSP00000398009:K341E	.	K	+	1	0	C16orf62	19547547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.455000	0.90355	2.285000	0.76669	0.533000	0.62120	AAA		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		5	86	0	0	0	1	0	5	86				
CELSR2	1952	broad.mit.edu	37	1	109793871	109793871	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109793871G>T	ENST00000271332.3	+	1	1231	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	390	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTTCTGTGGAGGATGACAATG	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1168-1170)gaG>gaT		cadherin, EGF LAG seven-pass G-type receptor 2							70.0	77.0	75.0					1																	109793871		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793871G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1170G>T	1.37:g.109793871G>T	ENSP00000271332:p.Glu390Asp						p.E390D	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1231	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	390			Cadherin 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1170G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.91	2.378741	0.42207	.	.	ENSG00000143126	ENST00000271332	T	0.01745	4.66	4.99	0.834	0.18880	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	L	0.49778	1.585	0.40728	D	0.982729	D	0.60160	0.987	D	0.67382	0.951	T	0.61778	-0.6993	9	0.16420	T	0.52	.	6.3044	0.21131	0.3003:0.1211:0.5786:0.0	.	390	Q9HCU4	CELR2_HUMAN	D	390	ENSP00000271332:E390D	ENSP00000271332:E390D	E	+	3	2	CELSR2	109595394	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.709000	0.25734	0.007000	0.14760	0.555000	0.69702	GAG		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		25	29	1	0	8.58068e-18	1	9.45481e-18	25	29				
ABCC11	85320	broad.mit.edu	37	16	48247384	48247384	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48247384C>T	ENST00000394747.1	-	9	1675	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	ABCC11_ENST00000394748.1_Silent_p.T442T|ABCC11_ENST00000353782.5_Silent_p.T442T|ABCC11_ENST00000537808.1_Silent_p.T442T|ABCC11_ENST00000356608.2_Silent_p.T442T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	442	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACTTGGAATTCGTGAGACCTT	0.547																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1324-1326)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							114.0	92.0	99.0					16																	48247384		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48247384C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1326G>A	16.37:g.48247384C>T						ABCC11_ENST00000353782.5_Silent_p.T442T|ABCC11_ENST00000394748.1_Silent_p.T442T|ABCC11_ENST00000356608.2_Silent_p.T442T|ABCC11_ENST00000537808.1_Silent_p.T442T	p.T442T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			9	1675	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	442			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1326G>A	CCDS10732.1																																																																																				0.547	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	19	0	0	0	1	0	8	19				
RALY	22913	broad.mit.edu	37	20	32660076	32660076	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32660076C>T	ENST00000246194.3	+	3	698	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Missense_Mutation_p.R66C	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	66	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTCCAATGAGCGCCATGCCCG	0.547																																						ENST00000375114.3																			0				kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(196-198)Cgc>Tgc		RALY heterogeneous nuclear ribonucleoprotein							64.0	65.0	65.0					20																	32660076		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32660076C>T	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.196C>T	20.37:g.32660076C>T	ENSP00000246194:p.Arg66Cys					RALY_ENST00000246194.3_Missense_Mutation_p.R66C|RALY_ENST00000493399.1_Intron	p.R66C	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN			3	774	+			66			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.196C>T	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008732	0.75046	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.06058	-1.0848	10	0.87932	D	0	-15.2722	13.9294	0.63986	0.2573:0.7427:0.0:0.0	.	66;66	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	C	66	ENSP00000364255:R66C;ENSP00000413638:R66C;ENSP00000246194:R66C;ENSP00000403744:R66C;ENSP00000415973:R66C	ENSP00000246194:R66C	R	+	1	0	RALY	32123737	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.193000	0.32162	2.833000	0.97629	0.585000	0.79938	CGC		0.547	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			16	30	0	0	0	1	0	16	30				
MYH8	4626	broad.mit.edu	37	17	10296236	10296236	+	Missense_Mutation	SNP	G	G	A	rs144962215		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10296236G>A	ENST00000403437.2	-	37	5469	c.5375C>T	c.(5374-5376)aCg>aTg	p.T1792M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1792					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTCCTTCACCGTCTGCTCCAG	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5374-5376)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	MET/THR	0,4406		0,0,2203	130.0	129.0	129.0		5375	5.1	1.0	17	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH8	NM_002472.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1792/1938	10296236	1,13005	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296236G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5375C>T	17.37:g.10296236G>A	ENSP00000384330:p.Thr1792Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.T1792M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5469	-			1792					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5375C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684404	0.88639	0.0	1.16E-4	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78246	-1.16	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.42964	U	0.000640	D	0.87196	0.6117	M	0.94101	3.495	0.54753	D	0.999989	P	0.36027	0.533	B	0.43123	0.409	D	0.89655	0.3872	10	0.72032	D	0.01	.	18.6259	0.91338	0.0:0.0:1.0:0.0	.	1792	P13535	MYH8_HUMAN	M	1792	ENSP00000384330:T1792M	ENSP00000252173:T1792M	T	-	2	0	MYH8	10236961	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.711000	0.84669	2.643000	0.89663	0.650000	0.86243	ACG		0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	120	0	0	0	1	0	4	120				
STX7	8417	broad.mit.edu	37	6	132791752	132791752	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:132791752T>C	ENST00000367941.2	-	6	514	c.401A>G	c.(400-402)gAg>gGg	p.E134G	STX7_ENST00000367937.4_Missense_Mutation_p.E134G|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	134					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGAGCTGTCCTCAGGAAAACT	0.313																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(400-402)gAg>gGg		syntaxin 7							86.0	87.0	87.0					6																	132791752		2203	4298	6501	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132791752T>C	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.401A>G	6.37:g.132791752T>C	ENSP00000356918:p.Glu134Gly					STX7_ENST00000367937.4_Missense_Mutation_p.E134G|STX7_ENST00000448348.3_5'UTR	p.E134G	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	6	514	-	Breast(56;0.0615)		134					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.401A>G	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.716385	0.48622	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.21734	1.99;1.99;1.99	5.79	5.79	0.91817	t-SNARE (1);	0.285709	0.40554	N	0.001067	T	0.11324	0.0276	L	0.37630	1.12	0.58432	D	0.999996	B	0.27932	0.194	B	0.32677	0.15	T	0.06023	-1.0850	10	0.37606	T	0.19	-11.6285	15.7943	0.78398	0.0:0.0:0.0:1.0	.	134	O15400	STX7_HUMAN	G	134;134;89;134	ENSP00000356918:E134G;ENSP00000412202:E134G;ENSP00000356914:E134G	ENSP00000309600:E89G	E	-	2	0	STX7	132833445	1.000000	0.71417	0.961000	0.40146	0.972000	0.66771	5.362000	0.66098	2.208000	0.71279	0.533000	0.62120	GAG		0.313	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			4	107	0	0	0	1	0	4	107				
PPP4R1	9989	broad.mit.edu	37	18	9559585	9559585	+	Silent	SNP	C	C	T	rs371842374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9559585C>T	ENST00000400556.3	-	14	1933	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	PPP4R1_ENST00000400555.3_Silent_p.A603A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	620					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.A620A(1)		large_intestine(1)|skin(2)	3						GATCTAACAACGCCTGAGGTA	0.433													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20383	0.0		0.0	False		,,,				2504	0.0				Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			1	Substitution - coding silent(1)	p.A620A(1)	endometrium(1)	large_intestine(1)|skin(2)	3						c.(1858-1860)gcG>gcA		protein phosphatase 4, regulatory subunit 1		T	,	1,3939		0,1,1969	79.0	73.0	75.0		1860,1809	-11.1	0.0	18		75	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	PPP4R1	NM_001042388.1,NM_005134.2	,	0,1,6135	TT,TC,CC		0.0,0.0254,0.0081	,	620/951,603/934	9559585	1,12271	1970	4166	6136	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559585C>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1860G>A	18.37:g.9559585C>T						PPP4R1_ENST00000400555.3_Silent_p.A603A	p.A620A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	1933	-			620					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.1860G>A	CCDS42412.1																																																																																				0.433	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		23	28	0	0	0	1	0	23	28				
F7	2155	broad.mit.edu	37	13	113770092	113770092	+	Silent	SNP	C	C	T	rs6040	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113770092C>T	ENST00000375581.3	+	6	584	c.549C>T	c.(547-549)gaC>gaT	p.D183D	F7_ENST00000541084.1_Silent_p.D114D|F7_ENST00000346342.3_Silent_p.D161D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	183	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		D -> N (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGCTGGCAGACGGGGTGTCCT	0.592													C|||	28	0.00559105	0.0015	0.0014	5008	,	,		20131	0.0248		0.0	False		,,,				2504	0.0					ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(547-549)gaC>gaT		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						64.0	55.0	58.0					13																	113770092		2203	4300	6503	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113770092C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.549C>T	13.37:g.113770092C>T						F7_ENST00000541084.1_Silent_p.D114D|F7_ENST00000346342.3_Silent_p.D161D	p.D183D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		6	584	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	183		D -> N (in FA7D).	EGF-like 2.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.549C>T	CCDS9528.1																																																																																				0.592	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		8	15	0	0	0	1	0	8	15				
CHRNE	1145	broad.mit.edu	37	17	4798728	4798728	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4798728C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.R1037W|MINK1_ENST00000347992.7_Missense_Mutation_p.R1028W|MINK1_ENST00000355280.6_Missense_Mutation_p.R1057W	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACTCATTGGGCGGCGACGCTT	0.622																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3169-3171)Cgg>Tgg		misshapen-like kinase 1							81.0	86.0	84.0					17																	4798728		2139	4239	6378	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798728C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798728C>T						MINK1_ENST00000347992.7_Missense_Mutation_p.R1028W|MINK1_ENST00000453408.3_Missense_Mutation_p.R1037W	p.R1057W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			26	3365	+			1057			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3169C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517693	0.85495	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.79352	-1.26;-1.26;-1.23	5.11	5.11	0.69529	Citron-like (3);	0.144113	0.49305	D	0.000151	D	0.88731	0.6516	M	0.84683	2.71	0.43164	D	0.99495	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.71184	0.972;0.952;0.972;0.952	D	0.90491	0.4467	10	0.87932	D	0	.	16.0869	0.81060	0.0:1.0:0.0:0.0	.	1020;1037;1057;1028	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	W	1057;1037;1028;17	ENSP00000347427:R1057W;ENSP00000406487:R1037W;ENSP00000269296:R1028W	ENSP00000269296:R1028W	R	+	1	2	MINK1	4739504	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.487000	0.22356	2.655000	0.90218	0.655000	0.94253	CGG		0.622	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			11	23	0	0	0	1	0	11	23				
PPM1J	333926	broad.mit.edu	37	1	113255619	113255619	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113255619C>T	ENST00000309276.6	-	3	651	c.476G>A	c.(475-477)gGg>gAg	p.G159E	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	159	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGCATGCCCATCAAATAG	0.537																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(475-477)gGg>gAg		protein phosphatase, Mg2+/Mn2+ dependent, 1J							64.0	68.0	67.0					1																	113255619		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113255619C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.476G>A	1.37:g.113255619C>T	ENSP00000308926:p.Gly159Glu					PPM1J_ENST00000464951.1_5'UTR	p.G159E	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	651	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	159			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.476G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800814	0.90538	.	.	ENSG00000155367	ENST00000309276	T	0.73047	-0.71	5.84	5.84	0.93424	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90351	0.4366	10	0.72032	D	0.01	-23.8717	19.7229	0.96150	0.0:1.0:0.0:0.0	.	159	Q5JR12	PPM1J_HUMAN	E	159	ENSP00000308926:G159E	ENSP00000308926:G159E	G	-	2	0	PPM1J	113057142	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.466000	0.80914	2.768000	0.95171	0.561000	0.74099	GGG		0.537	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		17	30	0	0	0	1	0	17	30				
P4HA2	8974	broad.mit.edu	37	5	131530664	131530664	+	Nonsense_Mutation	SNP	G	G	A	rs200102278		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131530664G>A	ENST00000401867.1	-	15	2060	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*	P4HA2_ENST00000379100.2_Nonsense_Mutation_p.R496*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.R496*|P4HA2_ENST00000166534.4_Nonsense_Mutation_p.R498*|P4HA2_ENST00000379104.2_Nonsense_Mutation_p.R498*|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.R496*			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	498	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGTCTTGTTCGGTAGTCACCT	0.537																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1492-1494)Cga>Tga		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						229.0	183.0	198.0					5																	131530664		2203	4300	6503	SO:0001587	stop_gained	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131530664G>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1492C>T	5.37:g.131530664G>A	ENSP00000384999:p.Arg498*					P4HA2_ENST00000166534.4_Nonsense_Mutation_p.R498*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.R496*|P4HA2_ENST00000379100.2_Nonsense_Mutation_p.R496*|P4HA2_ENST00000379104.2_Nonsense_Mutation_p.R498*|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.R496*	p.R498*			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2060	-		all_cancers(142;0.103)|Breast(839;0.198)	498			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Nonsense_Mutation	SNP	ENST00000401867.1	37	c.1492C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	43	10.453514	0.99408	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	.	.	.	5.96	3.0	0.34707	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5362	14.9833	0.71327	0.0:0.0:0.4669:0.5331	.	.	.	.	X	498;496;498;496;498;496	.	ENSP00000166534:R498X	R	-	1	2	P4HA2	131558563	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	1.539000	0.36104	0.805000	0.34159	0.655000	0.94253	CGA		0.537	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		17	25	0	0	0	1	0	17	25				
DOCK5	80005	broad.mit.edu	37	8	25220641	25220641	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25220641A>G	ENST00000276440.7	+	29	3072	c.3028A>G	c.(3028-3030)Aat>Gat	p.N1010D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1010					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATGGTGATGAATATGACTCA	0.448																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3028-3030)Aat>Gat		dedicator of cytokinesis 5							135.0	134.0	134.0					8																	25220641		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25220641A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3028A>G	8.37:g.25220641A>G	ENSP00000276440:p.Asn1010Asp						p.N1010D	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	29	3072	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1010					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3028A>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.88|18.88	3.717185|3.717185	0.68844|0.68844	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.41400	.|1.0	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47229|0.47229	0.1434|0.1434	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.36647	.|0.389;0.563;0.389	.|B;B;B	.|0.37451	.|0.25;0.171;0.25	T|T	0.48790|0.48790	-0.9004|-0.9004	5|10	.|0.48119	.|T	.|0.1	.|.	16.2291|16.2291	0.82321|0.82321	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1000;785;1010	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	G|D	781|1010	.|ENSP00000276440:N1010D	.|ENSP00000276440:N1010D	E|N	+|+	2|1	0|0	DOCK5|DOCK5	25276558|25276558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	9.281000|9.281000	0.95811|0.95811	2.238000|2.238000	0.73509|0.73509	0.528000|0.528000	0.53228|0.53228	GAA|AAT		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		24	53	0	0	0	1	0	24	53				
ACAD10	80724	broad.mit.edu	37	12	112191640	112191640	+	Missense_Mutation	SNP	C	C	T	rs146750873		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:112191640C>T	ENST00000313698.4	+	19	3037	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	ACAD10_ENST00000455480.2_Missense_Mutation_p.A992V|RP11-162P23.2_ENST00000546840.2_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	961						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.A961V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGGACATCGCGCAGTCGCGC	0.642											OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000455480.2																			1	Substitution - Missense(1)	p.A961V(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2974-2976)gCg>gTg		acyl-CoA dehydrogenase family, member 10		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	55.0	47.0	50.0		2975,2882	4.0	0.4	12	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	992/1091,961/1060	112191640	1,13005	2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112191640C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2882C>T	12.37:g.112191640C>T	ENSP00000325137:p.Ala961Val		OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1440	ACAD10_ENST00000313698.4_Missense_Mutation_p.A961V	p.A992V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			20	3152	+			961					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2975C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700819	0.48307	0.0	1.16E-4	ENSG00000111271	ENST00000455480;ENST00000313698;ENST00000512792	D;D	0.97731	-4.51;-4.51	4.89	4.0	0.46444	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.286888	0.31624	N	0.007325	D	0.98704	0.9565	H	0.94183	3.505	0.80722	D	1	P;D	0.76494	0.929;0.999	B;P	0.58331	0.214;0.837	D	0.99143	1.0856	10	0.72032	D	0.01	.	12.4874	0.55881	0.0:0.9173:0.0:0.0827	.	992;961	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	V	992;961;116	ENSP00000389813:A992V;ENSP00000325137:A961V	ENSP00000325137:A961V	A	+	2	0	ACAD10	110676023	0.055000	0.20627	0.361000	0.25849	0.007000	0.05969	2.530000	0.45641	1.309000	0.44985	-0.671000	0.03813	GCG		0.642	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		14	23	0	0	0	1	0	14	23				
P4HA2	8974	broad.mit.edu	37	5	131543528	131543528	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:131543528C>A	ENST00000401867.1	-	9	1521	c.953G>T	c.(952-954)aGg>aTg	p.R318M	P4HA2_ENST00000379100.2_Missense_Mutation_p.R318M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R318M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R318M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R318M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	318					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGTGGGGCCCTGTTGCCATG	0.552																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(952-954)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						185.0	180.0	182.0					5																	131543528		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131543528C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.953G>T	5.37:g.131543528C>A	ENSP00000384999:p.Arg318Met					P4HA2_ENST00000166534.4_Missense_Mutation_p.R318M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R318M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R318M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R318M	p.R318M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1521	-		all_cancers(142;0.103)|Breast(839;0.198)	318					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.953G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514564	0.85389	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.87	4.99	0.66335	.	0.164638	0.64402	D	0.000003	T	0.59810	0.2221	M	0.64997	1.995	0.58432	D	0.999998	P;P	0.48162	0.724;0.906	P;P	0.56216	0.627;0.794	T	0.61352	-0.7080	10	0.87932	D	0	-15.9193	13.331	0.60488	0.0:0.8764:0.0:0.1236	.	318;318	O15460;O15460-2	P4HA2_HUMAN;.	M	318	ENSP00000384999:R318M;ENSP00000368379:R318M;ENSP00000166534:R318M;ENSP00000353772:R318M;ENSP00000368398:R318M;ENSP00000368394:R318M	ENSP00000166534:R318M	R	-	2	0	P4HA2	131571427	0.258000	0.24033	0.583000	0.28640	0.909000	0.53808	4.011000	0.57124	2.941000	0.99782	0.655000	0.94253	AGG		0.552	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		52	118	1	0	2.44813e-32	1	2.74628e-32	52	118				
SSRP1	6749	broad.mit.edu	37	11	57099223	57099223	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57099223C>T	ENST00000278412.2	-	9	1408	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AGTGGTACCACGAGCAAAGTT	0.522																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1141-1143)cGt>cAt		structure specific recognition protein 1							126.0	124.0	125.0					11																	57099223		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099223C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1142G>A	11.37:g.57099223C>T	ENSP00000278412:p.Arg381His						p.R381H	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			9	1408	-			381					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1142G>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135765	0.77662	.	.	ENSG00000149136	ENST00000278412	T	0.57107	0.42	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.91561	3.22	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	T	0.79257	-0.1878	10	0.87932	D	0	-3.3593	19.5069	0.95121	0.0:1.0:0.0:0.0	.	381	Q08945	SSRP1_HUMAN	H	381	ENSP00000278412:R381H	ENSP00000278412:R381H	R	-	2	0	SSRP1	56855799	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	CGT		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		10	10	0	0	0	1	0	10	10				
MAN2A1	4124	broad.mit.edu	37	5	109117131	109117131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:109117131C>T	ENST00000261483.4	+	9	2461	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	470					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTTTTGATGCGCTGGATAAA	0.328																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1408-1410)gCg>gTg		mannosidase, alpha, class 2A, member 1							82.0	81.0	82.0					5																	109117131		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109117131C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1409C>T	5.37:g.109117131C>T	ENSP00000261483:p.Ala470Val						p.A470V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	9	2461	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	470					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1409C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794835	0.96952	.	.	ENSG00000112893	ENST00000261483	T	0.29655	1.56	5.91	5.91	0.95273	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	H	0.94264	3.515	0.80722	D	1	D	0.61080	0.989	P	0.56751	0.805	T	0.74100	-0.3774	10	0.62326	D	0.03	-18.1165	20.3011	0.98612	0.0:1.0:0.0:0.0	.	470	Q16706	MA2A1_HUMAN	V	470	ENSP00000261483:A470V	ENSP00000261483:A470V	A	+	2	0	MAN2A1	109145030	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	5.704000	0.68347	2.804000	0.96469	0.650000	0.86243	GCG		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			16	24	0	0	0	1	0	16	24				
LILRA4	23547	broad.mit.edu	37	19	54848844	54848844	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54848844G>A	ENST00000291759.4	-	5	835	c.779C>T	c.(778-780)gCc>gTc	p.A260V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	260	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A260fs*51(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAGGCCATCGGCCCCCTCCTT	0.667																																						ENST00000291759.4																			1	Insertion - Frameshift(1)	p.A260fs*51(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(778-780)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							23.0	26.0	25.0					19																	54848844		2203	4298	6501	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848844G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.779C>T	19.37:g.54848844G>A	ENSP00000291759:p.Ala260Val						p.A260V	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	835	-	Ovarian(34;0.19)		260			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.779C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	5.886	0.347645	0.11126	.	.	ENSG00000239961	ENST00000291759	T	0.00700	5.82	2.51	-5.02	0.02982	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.239410	0.00805	N	0.001448	T	0.00936	0.0031	N	0.17674	0.51	0.09310	N	1	B	0.29590	0.25	B	0.38880	0.284	T	0.33701	-0.9858	10	0.62326	D	0.03	.	5.7236	0.18000	0.113:0.1363:0.5641:0.1866	.	260	P59901	LIRA4_HUMAN	V	260	ENSP00000291759:A260V	ENSP00000291759:A260V	A	-	2	0	LILRA4	59540656	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.732000	0.00102	-3.538000	0.00144	-0.387000	0.06579	GCC		0.667	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		11	18	0	0	0	1	0	11	18				
ABCA3	21	broad.mit.edu	37	16	2336723	2336723	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2336723G>T	ENST00000301732.5	-	22	3950	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M	ABCA3_ENST00000382381.3_Missense_Mutation_p.L1026M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1084					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCAGCCTGCAGGGCGCTCCGG	0.657																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3250-3252)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 3							70.0	74.0	72.0					16																	2336723		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2336723G>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3250C>A	16.37:g.2336723G>T	ENSP00000301732:p.Leu1084Met					ABCA3_ENST00000382381.3_Missense_Mutation_p.L1026M	p.L1084M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			22	3950	-		Ovarian(90;0.17)	1084					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3250C>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458480	0.26248	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;D	0.88277	-2.36;-2.34	4.24	3.2	0.36748	.	0.680491	0.13275	N	0.400244	T	0.80336	0.4604	N	0.16307	0.4	0.58432	D	0.999999	B;B	0.28258	0.205;0.005	B;B	0.32393	0.145;0.016	T	0.76329	-0.2999	10	0.39692	T	0.17	.	9.4432	0.38681	0.0:0.0:0.6417:0.3583	.	1088;1084	Q4LE27;Q99758	.;ABCA3_HUMAN	M	1084;1088	ENSP00000301732:L1084M;ENSP00000371818:L1088M	ENSP00000301732:L1084M	L	-	1	2	ABCA3	2276724	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.449000	0.44935	2.379000	0.81126	0.543000	0.68304	CTG		0.657	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		22	24	1	0	0.000229342	1	0.000234539	22	24				
FUK	197258	broad.mit.edu	37	16	70514974	70514974	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70514974C>T	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Missense_Mutation_p.R770H	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CAGCACCTGGCGCACTTCAGC	0.597																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(2308-2310)cGc>cAc		component of oligomeric golgi complex 4							49.0	47.0	48.0					16																	70514974		2198	4300	6498	SO:0001628	intergenic_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70514974C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70514974C>T							p.R770H	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			19	2330	-		Ovarian(137;0.0694)	766			E domain; essential for proper cell surface glycosylation.		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2309G>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	36	5.932068	0.97116	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.52526	0.66	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.968;0.995;0.954;0.998	T	0.78084	-0.2342	10	0.87932	D	0	-11.5168	20.428	0.99075	0.0:1.0:0.0:0.0	.	676;744;766;226	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	H	770;745;226;428	ENSP00000315775:R770H	ENSP00000315775:R770H	R	-	2	0	COG4	69072475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.541000	0.82084	2.837000	0.97791	0.655000	0.94253	CGC		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		17	33	0	0	0	1	0	17	33				
USP38	84640	broad.mit.edu	37	4	144136036	144136036	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:144136036C>T	ENST00000307017.4	+	9	3413	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	USP38_ENST00000510377.1_Silent_p.D969D	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	969					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TAAATGGAGACCCACCTCTAC	0.328																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2905-2907)gaC>gaT		ubiquitin specific peptidase 38							48.0	50.0	50.0					4																	144136036		2203	4299	6502	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144136036C>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2907C>T	4.37:g.144136036C>T						USP38_ENST00000510377.1_Silent_p.D969D	p.D969D	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	3413	+	all_hematologic(180;0.158)		969					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.2907C>T	CCDS3758.1																																																																																				0.328	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		22	24	0	0	0	1	0	22	24				
OBSCN	84033	broad.mit.edu	37	1	228404812	228404812	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228404812G>A	ENST00000422127.1	+	8	2520	c.2476G>A	c.(2476-2478)Gtc>Atc	p.V826I	OBSCN_ENST00000284548.11_Missense_Mutation_p.V826I|OBSCN_ENST00000570156.2_Missense_Mutation_p.V826I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	826	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAGCCCACGTCCACGTGCA	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(2476-2478)Gtc>Atc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							63.0	72.0	69.0					1																	228404812		2152	4239	6391	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228404812G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2476G>A	1.37:g.228404812G>A	ENSP00000409493:p.Val826Ile					OBSCN_ENST00000284548.11_Missense_Mutation_p.V826I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V826I	p.V826I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			8	2550	+		Prostate(94;0.0405)	826			Ig-like 8.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.2476G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	8.540	0.872933	0.17322	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66638	-0.22;-0.22	4.79	-0.295	0.12828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.514058	0.18070	N	0.152644	T	0.62696	0.2449	L	0.58101	1.795	0.09310	N	0.999995	B;D	0.56746	0.233;0.977	B;P	0.48654	0.022;0.585	T	0.57165	-0.7858	10	0.25751	T	0.34	.	9.6944	0.40147	0.3461:0.0:0.6539:0.0	.	826;826	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	826	ENSP00000284548:V826I;ENSP00000409493:V826I	ENSP00000284548:V826I	V	+	1	0	OBSCN	226471435	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.268000	0.08607	-0.211000	0.10124	-0.140000	0.14226	GTC		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	31	0	0	0	1	0	26	31				
CNNM3	26505	broad.mit.edu	37	2	97493559	97493559	+	Silent	SNP	C	C	T	rs559375951	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97493559C>T	ENST00000305510.3	+	4	1639	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Silent_p.D489D	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	537					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGAGGTTTGACGAGAGCAACC	0.577													C|||	7	0.00139776	0.0	0.0	5008	,	,		20337	0.0		0.0	False		,,,				2504	0.0072					ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1609-1611)gaC>gaT		cyclin M3							112.0	101.0	105.0					2																	97493559		2203	4300	6503	SO:0001819	synonymous_variant	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97493559C>T	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1611C>T	2.37:g.97493559C>T						ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Silent_p.D489D	p.D537D	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			4	1639	+			537					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	c.1611C>T	CCDS2025.1																																																																																				0.577	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		23	26	0	0	0	1	0	23	26				
PLEKHH1	57475	broad.mit.edu	37	14	68036701	68036701	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68036701C>A	ENST00000329153.5	+	9	1538	c.1406C>A	c.(1405-1407)aCt>aAt	p.T469N		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	469						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AAGAATGTCACTGTGCCTGTC	0.542																																						ENST00000329153.5																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(1405-1407)aCt>aAt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							110.0	106.0	107.0					14																	68036701		1953	4152	6105	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68036701C>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1406C>A	14.37:g.68036701C>A	ENSP00000330278:p.Thr469Asn						p.T469N	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	9	1538	+			469					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1406C>A	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075732	0.36662	.	.	ENSG00000054690	ENST00000329153	T	0.12147	2.71	4.76	3.79	0.43588	.	0.462493	0.24456	N	0.038368	T	0.17023	0.0409	M	0.61703	1.905	0.39496	D	0.968128	B	0.18310	0.027	B	0.15870	0.014	T	0.05649	-1.0872	10	0.38643	T	0.18	.	15.5244	0.75890	0.1474:0.8525:0.0:0.0	.	469	Q9ULM0	PKHH1_HUMAN	N	469	ENSP00000330278:T469N	ENSP00000330278:T469N	T	+	2	0	PLEKHH1	67106454	0.662000	0.27439	0.997000	0.53966	0.992000	0.81027	1.204000	0.32296	2.465000	0.83290	0.484000	0.47621	ACT		0.542	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		3	10	1	0	0.004672	1	0.00472505	3	10				
POLD1	5424	broad.mit.edu	37	19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50918754G>A	ENST00000440232.2	+	21	2677	c.2624G>A	c.(2623-2625)cGc>cAc	p.R875H	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|POLD1_ENST00000599857.1_Missense_Mutation_p.R875H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	875					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2623-2625)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							45.0	36.0	39.0					19																	50918754		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918754G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2624G>A	19.37:g.50918754G>A	ENSP00000406046:p.Arg875His					POLD1_ENST00000595904.1_Missense_Mutation_p.R901H|POLD1_ENST00000599857.1_Missense_Mutation_p.R875H	p.R875H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	21	2677	+		all_neural(266;0.0571)	875					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2624G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604917	0.87157	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18174	2.23	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059138	0.64402	D	0.000002	T	0.40886	0.1135	M	0.92219	3.285	0.80722	D	1	P;P	0.47409	0.792;0.895	B;P	0.49502	0.429;0.613	T	0.58487	-0.7628	10	0.62326	D	0.03	-20.3747	15.8183	0.78621	0.0:0.0:1.0:0.0	.	901;875	E7EVW0;P28340	.;DPOD1_HUMAN	H	875;876	ENSP00000406046:R875H	ENSP00000366129:R876H	R	+	2	0	POLD1	55610566	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.860000	0.69546	2.114000	0.64651	0.450000	0.29827	CGC		0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			13	11	0	0	0	1	0	13	11				
PLOD3	8985	broad.mit.edu	37	7	100859203	100859203	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100859203C>T	ENST00000223127.3	-	5	999	c.601G>A	c.(601-603)Gac>Aac	p.D201N	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	201					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTCCTGGGTCCAGGTAGAGC	0.587																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(601-603)Gac>Aac		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						115.0	104.0	108.0					7																	100859203		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859203C>T	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.601G>A	7.37:g.100859203C>T	ENSP00000223127:p.Asp201Asn						p.D201N	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			5	999	-	Lung NSC(181;0.168)|all_lung(186;0.215)		201					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.601G>A	CCDS5715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312017|4.312017	0.81358|0.81358	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000223127;ENST00000541462|ENST00000421736	T|.	0.32753|.	1.44|.	5.09|5.09	4.2|4.2	0.49525|0.49525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62441|.	0.2428|.	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.54964|.	0.969|.	P|.	0.48770|.	0.589|.	T|.	0.60383|.	-0.7274|.	10|.	0.42905|.	T|.	0.14|.	-7.0308|-7.0308	9.297|9.297	0.37822|0.37822	0.0:0.9003:0.0:0.0997|0.0:0.9003:0.0:0.0997	.|.	201|.	O60568|.	PLOD3_HUMAN|.	N|X	201;105|33	ENSP00000223127:D201N|.	ENSP00000223127:D201N|.	D|W	-|-	1|3	0|0	PLOD3|PLOD3	100645923|100645923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.208000|7.208000	0.77907|0.77907	1.134000|1.134000	0.42165|0.42165	0.561000|0.561000	0.74099|0.74099	GAC|TGG		0.587	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			10	19	0	0	0	1	0	10	19				
CDHR2	54825	broad.mit.edu	37	5	176019772	176019772	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176019772G>T	ENST00000510636.1	+	31	4057	c.3783G>T	c.(3781-3783)caG>caT	p.Q1261H	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q1261H|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q1261H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1261					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGAACAGTCAGGAAATCAAGG	0.547																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3781-3783)caG>caT		cadherin-related family member 2							151.0	126.0	134.0					5																	176019772		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176019772G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3783G>T	5.37:g.176019772G>T	ENSP00000424565:p.Gln1261His					CDHR2_ENST00000506348.1_Missense_Mutation_p.Q1261H|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q1261H	p.Q1261H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			31	4057	+			1261					A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3783G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	5.429	0.264243	0.10294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	3.63	2.69	0.31865	.	.	.	.	.	T	0.33118	0.0852	N	0.24115	0.695	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.17745	-1.0359	9	0.25751	T	0.34	-4.7353	4.45	0.11616	0.1433:0.2281:0.6286:0.0	.	1261	Q9BYE9	CDHR2_HUMAN	H	1261	ENSP00000424565:Q1261H;ENSP00000261944:Q1261H;ENSP00000421078:Q1261H	ENSP00000261944:Q1261H	Q	+	3	2	CDHR2	175952378	0.044000	0.20184	0.478000	0.27316	0.340000	0.28889	1.677000	0.37576	0.822000	0.34565	0.459000	0.35465	CAG		0.547	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		13	28	1	0	4.93089e-13	1	5.3475e-13	13	28				
CUL9	23113	broad.mit.edu	37	6	43172186	43172186	+	Silent	SNP	G	G	A	rs143759620	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43172186G>A	ENST00000252050.4	+	21	4332	c.4248G>A	c.(4246-4248)gcG>gcA	p.A1416A	CUL9_ENST00000354495.3_Silent_p.A1306A|CUL9_ENST00000372647.2_Silent_p.A1416A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1416					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTCGAGCAGCGTCCTTTGCTT	0.577																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4246-4248)gcG>gcA		cullin 9		G		1,4405	2.1+/-5.4	0,1,2202	197.0	176.0	183.0		4248	-5.7	0.9	6	dbSNP_134	183	3,8597	2.2+/-6.3	0,3,4297	yes	coding-synonymous	CUL9	NM_015089.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1416/2518	43172186	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172186G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4248G>A	6.37:g.43172186G>A						CUL9_ENST00000372647.2_Silent_p.A1416A|CUL9_ENST00000354495.3_Silent_p.A1306A	p.A1416A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			21	4332	+			1416					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.4248G>A	CCDS4890.1																																																																																				0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		50	73	0	0	0	1	0	50	73				
RNF213	57674	broad.mit.edu	37	17	78349610	78349610	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78349610G>A	ENST00000582970.1	+	51	13268	c.13125G>A	c.(13123-13125)ctG>ctA	p.L4375L	RNF213_ENST00000508628.2_Silent_p.L4424L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2448L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4375					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTTAACACTGTTTAGAGAGG	0.483																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13123-13125)ctG>ctA		ring finger protein 213							104.0	95.0	98.0					17																	78349610		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78349610G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13125G>A	17.37:g.78349610G>A						CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2448L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4424L	p.L4375L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		51	13268	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.13125G>A	CCDS58606.1																																																																																				0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	48	0	0	0	1	0	9	48				
CCDC77	84318	broad.mit.edu	37	12	539871	539871	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:539871T>C	ENST00000239830.4	+	7	731	c.552T>C	c.(550-552)tgT>tgC	p.C184C	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.C152C|CCDC77_ENST00000422000.1_Silent_p.C152C|CCDC77_ENST00000540180.1_Silent_p.C152C	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	184						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TAGGTGAATGTGAGCAGAGTG	0.388																																						ENST00000239830.4																			0				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(550-552)tgT>tgC		coiled-coil domain containing 77							139.0	133.0	135.0					12																	539871		2203	4300	6503	SO:0001819	synonymous_variant	84318					centrosome		g.chr12:539871T>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.552T>C	12.37:g.539871T>C						CCDC77_ENST00000540180.1_Silent_p.C152C|CCDC77_ENST00000422000.1_Silent_p.C152C|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.C152C	p.C184C	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		7	731	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		184					B4DDE8	Silent	SNP	ENST00000239830.4	37	c.552T>C	CCDS8503.1																																																																																				0.388	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		14	75	0	0	0	1	0	14	75				
KHNYN	23351	broad.mit.edu	37	14	24900107	24900107	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24900107G>T	ENST00000251343.5	+	2	310	c.171G>T	c.(169-171)gaG>gaT	p.E57D	CBLN3_ENST00000555436.1_5'UTR|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.E57D|KHNYN_ENST00000553935.1_Missense_Mutation_p.E57D			O15037	KHNYN_HUMAN	KH and NYN domain containing	57							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGCAGCTGGAGGGCCCCAAGG	0.647																																						ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(169-171)gaG>gaT		KH and NYN domain containing							44.0	44.0	44.0					14																	24900107		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900107G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.171G>T	14.37:g.24900107G>T	ENSP00000251343:p.Glu57Asp					CBLN3_ENST00000555436.1_5'UTR|KHNYN_ENST00000556842.1_Missense_Mutation_p.E57D|KHNYN_ENST00000553935.1_Missense_Mutation_p.E57D	p.E57D			O15037	KHNYN_HUMAN			2	310	+			57					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.171G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557623	0.86231	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	T;T;T	0.24908	1.83;1.83;1.83	5.34	3.51	0.40186	.	0.296773	0.29410	N	0.012235	T	0.31482	0.0798	L	0.57536	1.79	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.02893	-1.1097	10	0.34782	T	0.22	.	7.2952	0.26389	0.2688:0.0:0.7312:0.0	.	98;57	D3DS77;O15037	.;KHNYN_HUMAN	D	57	ENSP00000251343:E57D;ENSP00000451106:E57D;ENSP00000450799:E57D	ENSP00000251343:E57D	E	+	3	2	KHNYN	23969947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.183000	0.32041	0.638000	0.30545	0.549000	0.68633	GAG		0.647	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			9	9	1	0	0.000274275	1	0.000279654	9	9				
MYH9	4627	broad.mit.edu	37	22	36684456	36684456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36684456G>A	ENST00000216181.5	-	34	5004	c.4774C>T	c.(4774-4776)Cgg>Tgg	p.R1592W	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1592					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCATCTCCCGCACCTGGGGG	0.622			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4774-4776)Cgg>Tgg		myosin, heavy chain 9, non-muscle							62.0	53.0	56.0					22																	36684456		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684456G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4774C>T	22.37:g.36684456G>A	ENSP00000216181:p.Arg1592Trp						p.R1592W	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			34	5004	-			1592					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4774C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838787	0.91117	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.79352	-1.26	5.5	5.5	0.81552	Myosin tail (1);	0.123818	0.53938	D	0.000054	D	0.88746	0.6520	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.90189	0.4248	10	0.87932	D	0	.	14.5905	0.68362	0.0:0.0:0.8541:0.1459	.	1592	P35579	MYH9_HUMAN	W	1014;194;1592	ENSP00000216181:R1592W	ENSP00000216181:R1592W	R	-	1	2	MYH9	35014402	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.537000	0.67186	2.735000	0.93741	0.655000	0.94253	CGG		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	17	0	0	0	1	0	13	17				
ATF2	1386	broad.mit.edu	37	2	175939443	175939443	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175939443G>A	ENST00000264110.2	-	14	1710	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	ATF2_ENST00000409635.1_Missense_Mutation_p.A413V|ATF2_ENST00000392544.1_Missense_Mutation_p.A471V|ATF2_ENST00000392543.2_Missense_Mutation_p.A92V|ATF2_ENST00000409499.1_Missense_Mutation_p.A110V|ATF2_ENST00000345739.5_Missense_Mutation_p.A413V|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000426833.3_Missense_Mutation_p.A453V|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000409437.1_Missense_Mutation_p.A355V	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	471					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	AGTGGCTACAGCTTCTGCCTT	0.517																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(1411-1413)gCt>gTt		activating transcription factor 2							84.0	73.0	77.0					2																	175939443		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175939443G>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1412C>T	2.37:g.175939443G>A	ENSP00000264110:p.Ala471Val					ATF2_ENST00000409499.1_Missense_Mutation_p.A110V|ATF2_ENST00000409635.1_Missense_Mutation_p.A413V|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392543.2_Missense_Mutation_p.A92V|ATF2_ENST00000426833.3_Missense_Mutation_p.A453V|ATF2_ENST00000392544.1_Missense_Mutation_p.A471V|ATF2_ENST00000409437.1_Missense_Mutation_p.A355V|ATF2_ENST00000345739.5_Missense_Mutation_p.A413V	p.A471V	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		14	1710	-			471					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.1412C>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100714	0.56183	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000409499;ENST00000426833;ENST00000392543	T;T;T;T;T;T	0.79454	-1.27;0.31;-0.66;0.31;-1.27;-1.26	5.83	4.94	0.65067	.	0.237024	0.42682	N	0.000674	T	0.65322	0.2680	N	0.16656	0.425	0.80722	D	1	B;B;P;B	0.37663	0.02;0.056;0.604;0.005	B;B;B;B	0.38194	0.004;0.058;0.267;0.004	T	0.64071	-0.6493	10	0.27785	T	0.31	-10.5032	15.2126	0.73238	0.0681:0.0:0.9319:0.0	.	453;110;413;471	A4D7U4;Q96JT8;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	V	471;413;448;355;413;471;110;453;92	ENSP00000264110:A471V;ENSP00000340576:A413V;ENSP00000386326:A355V;ENSP00000387093:A413V;ENSP00000376327:A471V;ENSP00000407911:A453V	ENSP00000264110:A471V	A	-	2	0	ATF2	175647689	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.537000	0.67186	1.447000	0.47661	0.650000	0.86243	GCT		0.517	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		20	35	0	0	0	1	0	20	35				
BRCA1	672	broad.mit.edu	37	17	41244008	41244008	+	Silent	SNP	G	G	A	rs397509080		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41244008G>A	ENST00000357654.3	-	10	3658	c.3540C>T	c.(3538-3540)agC>agT	p.S1180S	BRCA1_ENST00000493795.1_Silent_p.S1133S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Silent_p.S884S|BRCA1_ENST00000471181.2_Silent_p.S1180S|BRCA1_ENST00000346315.3_Silent_p.S1180S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.S1180S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1180					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTCTGGACGCTTTTGCTAA	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(2650-2652)agC>agT	Homologous recombination	breast cancer 1, early onset							85.0	79.0	81.0					17																	41244008		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244008G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3540C>T	17.37:g.41244008G>A		TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Silent_p.S1180S|BRCA1_ENST00000493795.1_Silent_p.S1133S|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Silent_p.S1180S|BRCA1_ENST00000357654.3_Silent_p.S1180S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.S1180S	p.S884S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3679	-		Breast(137;0.000717)	1180					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.2652C>T	CCDS11453.1																																																																																				0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	36	0	0	0	1	0	7	36				
CTNNA1	1495	broad.mit.edu	37	5	138269727	138269727	+	Silent	SNP	C	C	T	rs528674508		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:138269727C>T	ENST00000302763.7	+	18	2760	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	CTNNA1_ENST00000540387.1_Silent_p.H520H|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Silent_p.H787H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	890					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.H890H(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGAAGCACGTGAACCCGG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17838	0.0		0.0	False		,,,				2504	0.001					ENST00000302763.7																			1	Substitution - coding silent(1)	p.H890H(1)	endometrium(1)	NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(2668-2670)caC>caT		catenin (cadherin-associated protein), alpha 1, 102kDa							63.0	58.0	60.0					5																	138269727		2203	4300	6503	SO:0001819	synonymous_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138269727C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2670C>T	5.37:g.138269727C>T						CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000540387.1_Silent_p.H520H|CTNNA1_ENST00000355078.5_Silent_p.H787H	p.H890H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	2760	+			890					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.2670C>T	CCDS34243.1																																																																																				0.542	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		7	25	0	0	0	1	0	7	25				
KDM3A	55818	broad.mit.edu	37	2	86707425	86707425	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86707425A>G	ENST00000409556.1	+	17	2817	c.2452A>G	c.(2452-2454)Aca>Gca	p.T818A	KDM3A_ENST00000542128.1_Missense_Mutation_p.T766A|KDM3A_ENST00000312912.5_Missense_Mutation_p.T818A|KDM3A_ENST00000409064.1_Missense_Mutation_p.T818A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	818					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCCAGCCAGCACATCTCCTCT	0.542																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2452-2454)Aca>Gca		lysine (K)-specific demethylase 3A							74.0	84.0	81.0					2																	86707425		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86707425A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2452A>G	2.37:g.86707425A>G	ENSP00000386660:p.Thr818Ala					KDM3A_ENST00000409064.1_Missense_Mutation_p.T818A|KDM3A_ENST00000312912.5_Missense_Mutation_p.T818A|KDM3A_ENST00000542128.1_Missense_Mutation_p.T766A	p.T818A			Q9Y4C1	KDM3A_HUMAN			17	2817	+			818					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2452A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.511634	0.27036	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.86	-5.59	0.02505	.	0.494374	0.21760	N	0.069533	T	0.21590	0.0520	N	0.16478	0.41	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10590	-1.0623	10	0.18710	T	0.47	.	1.2391	0.01959	0.313:0.1126:0.1451:0.4293	.	766;818	F5H070;Q9Y4C1	.;KDM3A_HUMAN	A	818;818;818;818;766	ENSP00000386660:T818A;ENSP00000323659:T818A;ENSP00000386516:T818A;ENSP00000438324:T766A	ENSP00000323659:T818A	T	+	1	0	KDM3A	86560936	0.035000	0.19736	0.132000	0.22025	0.966000	0.64601	0.051000	0.14141	-0.427000	0.07350	0.528000	0.53228	ACA		0.542	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		3	24	0	0	0	1	0	3	24				
PFAS	5198	broad.mit.edu	37	17	8158851	8158851	+	Missense_Mutation	SNP	C	C	T	rs539186803		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8158851C>T	ENST00000314666.6	+	5	549	c.416C>T	c.(415-417)gCc>gTc	p.A139V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	139					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GAGGTGGAAGCCATTGCTCTG	0.582																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(415-417)gCc>gTc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65.0	61.0	62.0					17																	8158851		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158851C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.416C>T	17.37:g.8158851C>T	ENSP00000313490:p.Ala139Val					PFAS_ENST00000545834.1_Intron	p.A139V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	549	+			139					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.416C>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220103	0.39201	.	.	ENSG00000178921	ENST00000314666	T	0.46451	0.87	5.66	5.66	0.87406	.	0.423650	0.28290	N	0.015894	T	0.39172	0.1068	L	0.42245	1.32	0.80722	D	1	B	0.15719	0.014	B	0.10450	0.005	T	0.09818	-1.0657	10	0.39692	T	0.17	-8.5796	17.2338	0.86992	0.0:1.0:0.0:0.0	.	139	O15067	PUR4_HUMAN	V	139	ENSP00000313490:A139V	ENSP00000313490:A139V	A	+	2	0	PFAS	8099576	0.965000	0.33210	0.524000	0.27887	0.285000	0.27093	2.361000	0.44160	2.681000	0.91329	0.462000	0.41574	GCC		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			8	24	0	0	0	1	0	8	24				
SPAM1	6677	broad.mit.edu	37	7	123595095	123595095	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123595095T>C	ENST00000439500.1	+	5	1612	c.999T>C	c.(997-999)gcT>gcC	p.A333A	SPAM1_ENST00000340011.5_Silent_p.A333A|SPAM1_ENST00000402183.2_Silent_p.A333A|SPAM1_ENST00000223028.7_Silent_p.A333A|SPAM1_ENST00000460182.1_Silent_p.A333A	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	333					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTGGGTGCTTCTGGAATTG	0.348																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(997-999)gcT>gcC		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						218.0	216.0	217.0					7																	123595095		2203	4300	6503	SO:0001819	synonymous_variant	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595095T>C	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.999T>C	7.37:g.123595095T>C						SPAM1_ENST00000223028.7_Silent_p.A333A|SPAM1_ENST00000439500.1_Silent_p.A333A|SPAM1_ENST00000460182.1_Silent_p.A333A|SPAM1_ENST00000402183.2_Silent_p.A333A	p.A333A	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			4	1356	+			333					Q8TC30	Silent	SNP	ENST00000439500.1	37	c.999T>C	CCDS5791.1																																																																																				0.348	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			42	82	0	0	0	1	0	42	82				
C9orf47	286223	broad.mit.edu	37	9	91606884	91606884	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:91606884C>T	ENST00000334490.5	+	3	658	c.590C>T	c.(589-591)tCg>tTg	p.S197L	C9orf47_ENST00000375851.2_Missense_Mutation_p.S178L|C9orf47_ENST00000375850.3_Missense_Mutation_p.S230L|S1PR3_ENST00000358157.2_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	197						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						TTCCATCAGTCGTTTTCCTTG	0.542																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(532-534)tCg>tTg		chromosome 9 open reading frame 47							106.0	98.0	101.0					9																	91606884		2203	4300	6503	SO:0001583	missense	286223					extracellular region		g.chr9:91606884C>T	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.590C>T	9.37:g.91606884C>T	ENSP00000335616:p.Ser197Leu					C9orf47_ENST00000375850.3_Missense_Mutation_p.S230L|C9orf47_ENST00000334490.5_Missense_Mutation_p.S197L|S1PR3_ENST00000358157.2_Intron	p.S178L	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			3	666	+			197					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.533C>T	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467724	0.26335	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.33	-3.44	0.04796	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B	0.26708	0.157;0.157	B;B	0.16722	0.016;0.016	T	0.14980	-1.0453	8	0.87932	D	0	.	0.5646	0.00685	0.1785:0.261:0.1766:0.3839	.	197;178	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	L	178;230;197	.	ENSP00000335616:S197L	S	+	2	0	C9orf47	90796704	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.548000	0.06048	-1.071000	0.03145	-0.258000	0.10820	TCG		0.542	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		16	31	0	0	0	1	0	16	31				
HKDC1	80201	broad.mit.edu	37	10	71002999	71002999	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:71002999C>T	ENST00000354624.5	+	7	886	c.753C>T	c.(751-753)gaC>gaT	p.D251D	HKDC1_ENST00000395086.2_Silent_p.D251D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	251	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGAGGGCGACGAGGGCAGGA	0.587																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(751-753)gaC>gaT		hexokinase domain containing 1							129.0	118.0	122.0					10																	71002999		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71002999C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.753C>T	10.37:g.71002999C>T						HKDC1_ENST00000395086.2_Silent_p.D251D	p.D251D	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			7	886	+			251					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.753C>T	CCDS7288.1																																																																																				0.587	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		37	49	0	0	0	1	0	37	49				
GRM1	2911	broad.mit.edu	37	6	146720092	146720092	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146720092C>T	ENST00000282753.1	+	7	2152	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_ENST00000507907.1_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F|GRM1_ENST00000355289.4_Silent_p.F639F|GRM1_ENST00000392299.2_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	639					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGCATCTTCCTTGGTTATG	0.517																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1915-1917)ttC>ttT		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						360.0	295.0	317.0					6																	146720092		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720092C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1917C>T	6.37:g.146720092C>T						GRM1_ENST00000355289.4_Silent_p.F639F|GRM1_ENST00000282753.1_Silent_p.F639F|GRM1_ENST00000507907.1_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F	p.F639F			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2387	+		Ovarian(120;0.0387)	639					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1917C>T	CCDS5209.1																																																																																				0.517	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	123	0	0	0	1	0	4	123				
OR5T2	219464	broad.mit.edu	37	11	56000473	56000473	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56000473C>A	ENST00000313264.4	-	1	264	c.189G>T	c.(187-189)caG>caT	p.Q63H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGAAGATAGTCTGCAGTTCAA	0.383																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(187-189)caG>caT		olfactory receptor, family 5, subfamily T, member 2							71.0	63.0	66.0					11																	56000473		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000473C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.189G>T	11.37:g.56000473C>A	ENSP00000323688:p.Gln63His						p.Q63H	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	264	-	Esophageal squamous(21;0.00448)		63					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.189G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743407	0.49151	.	.	ENSG00000181718	ENST00000313264	T	0.00601	6.29	4.77	-9.54	0.00572	.	0.241492	0.21234	U	0.077940	T	0.01287	0.0042	M	0.67517	2.055	0.09310	N	1	D	0.63880	0.993	D	0.64687	0.928	T	0.00220	-1.1906	10	0.66056	D	0.02	.	11.2255	0.48882	0.0:0.2881:0.0868:0.6251	.	63	Q8NGG2	OR5T2_HUMAN	H	63	ENSP00000323688:Q63H	ENSP00000323688:Q63H	Q	-	3	2	OR5T2	55757049	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.199000	0.03032	-1.977000	0.00994	0.458000	0.33432	CAG		0.383	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		13	23	1	0	0.000219431	1	0.000224427	13	23				
DOCK7	85440	broad.mit.edu	37	1	63099177	63099177	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63099177C>A	ENST00000340370.5	-	10	1125	c.1108G>T	c.(1108-1110)Gcc>Tcc	p.A370S	DOCK7_ENST00000404627.2_Missense_Mutation_p.A370S|DOCK7_ENST00000251157.5_Missense_Mutation_p.A370S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	370					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACCTTGGTGGCATCTGCTTCT	0.363																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1108-1110)Gcc>Tcc		dedicator of cytokinesis 7							263.0	258.0	260.0					1																	63099177		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63099177C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1108G>T	1.37:g.63099177C>A	ENSP00000340742:p.Ala370Ser					DOCK7_ENST00000340370.5_Missense_Mutation_p.A370S|DOCK7_ENST00000404627.2_Missense_Mutation_p.A370S	p.A370S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			10	1141	-			370					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1108G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690675	0.29962	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.45276	0.9;0.9;0.9	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	N	0.02202	-0.64	0.44762	D	0.997761	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.0	B;B;B;B;B	0.13407	0.007;0.007;0.007;0.009;0.002	T	0.12041	-1.0563	10	0.26408	T	0.33	.	7.9133	0.29803	0.0:0.8162:0.0:0.1838	.	370;370;370;370;370	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	S	370	ENSP00000251157:A370S;ENSP00000340742:A370S;ENSP00000384446:A370S	ENSP00000251157:A370S	A	-	1	0	DOCK7	62871765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.049000	0.49869	2.206000	0.71126	0.555000	0.69702	GCC		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		6	128	1	0	2.7689e-08	1	2.91998e-08	6	128				
RAD9B	144715	broad.mit.edu	37	12	110960163	110960163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:110960163G>T	ENST00000409778.3	+	8	889	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	RAD9B_ENST00000392672.4_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409425.1_Nonsense_Mutation_p.E286*|RAD9B_ENST00000409300.1_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409246.1_Nonsense_Mutation_p.E286*			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	355					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGAAGTATCAGAAAGCAGTGT	0.438																																						ENST00000409246.1																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(856-858)Gaa>Taa		RAD9 homolog B (S. pombe)							82.0	64.0	70.0					12																	110960163		2203	4300	6503	SO:0001587	stop_gained	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110960163G>T		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.865G>T	12.37:g.110960163G>T	ENSP00000386697:p.Glu289*					RAD9B_ENST00000409425.1_Nonsense_Mutation_p.E286*|RAD9B_ENST00000409778.3_Nonsense_Mutation_p.E289*|RAD9B_ENST00000392672.4_Nonsense_Mutation_p.E358*|RAD9B_ENST00000409300.1_Nonsense_Mutation_p.E358*	p.E286*			Q6WBX8	RAD9B_HUMAN			10	1181	+			355					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Nonsense_Mutation	SNP	ENST00000409778.3	37	c.856G>T		.	.	.	.	.	.	.	.	.	.	G	17.44	3.390006	0.61956	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	.	.	.	4.98	2.1	0.27182	.	0.355775	0.23955	N	0.042908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.6106	5.4094	0.16341	0.1843:0.1651:0.6506:0.0	.	.	.	.	X	286;358;358;286;289	.	ENSP00000376440:E358X	E	+	1	0	RAD9B	109444546	0.034000	0.19679	0.000000	0.03702	0.197000	0.23852	2.695000	0.47043	0.216000	0.20781	0.561000	0.74099	GAA		0.438	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442		7	7	1	0	0.000274275	1	0.000279654	7	7				
CTHRC1	115908	broad.mit.edu	37	8	104388156	104388156	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104388156T>C	ENST00000330295.5	+	2	483	c.341T>C	c.(340-342)tTg>tCg	p.L114S	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Missense_Mutation_p.L100S|CTHRC1_ENST00000415886.2_Missense_Mutation_p.L114S	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	114					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGAGTTCATTGAATTATGGC	0.383																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(340-342)tTg>tCg		collagen triple helix repeat containing 1							56.0	51.0	53.0					8																	104388156		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104388156T>C	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.341T>C	8.37:g.104388156T>C	ENSP00000330523:p.Leu114Ser					CTHRC1_ENST00000520337.1_Missense_Mutation_p.L100S|CTHRC1_ENST00000415886.2_Missense_Mutation_p.L114S	p.L114S	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	483	+			114					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.341T>C	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162417	0.78226	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	T;D;T	0.83914	-0.3;-1.78;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.958	D;P	0.85130	0.997;0.63	D	0.91251	0.5029	10	0.56958	D	0.05	-12.5682	15.9482	0.79809	0.0:0.0:0.0:1.0	.	114;114	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	S	114;114;100;100	ENSP00000330523:L114S;ENSP00000416045:L114S;ENSP00000430550:L100S	ENSP00000297577:L100S	L	+	2	0	CTHRC1	104457332	1.000000	0.71417	0.609000	0.28983	0.842000	0.47809	7.698000	0.84413	2.166000	0.68216	0.477000	0.44152	TTG		0.383	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		6	14	0	0	0	1	0	6	14				
MYO7B	4648	broad.mit.edu	37	2	128390869	128390869	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128390869G>T	ENST00000409816.2	+	38	5396	c.5364G>T	c.(5362-5364)gaG>gaT	p.E1788D	MYO7B_ENST00000389524.4_Missense_Mutation_p.E1789D|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1788D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E641D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1788	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCAGGTGGAGGTGGAGGCCG	0.667																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5365-5367)gaG>gaT		myosin VIIB							36.0	42.0	40.0					2																	128390869		2061	4191	6252	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128390869G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5364G>T	2.37:g.128390869G>T	ENSP00000386461:p.Glu1788Asp					MYO7B_ENST00000428314.1_Missense_Mutation_p.E1788D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1788D|MYO7B_ENST00000409090.1_Missense_Mutation_p.E641D	p.E1789D			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	39	5420	+	Colorectal(110;0.1)		1788			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5367G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432835	0.83776	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.62	2.86	0.33363	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.90650	3.135	0.42796	D	0.993911	D	0.89917	1.0	D	0.91635	0.999	D	0.97228	0.9882	10	0.87932	D	0	.	9.3549	0.38159	0.2845:0.0:0.7155:0.0	.	1788	Q6PIF6	MYO7B_HUMAN	D	1789;1788;884;1788;641	ENSP00000374175:E1789D;ENSP00000415090:E1788D;ENSP00000386461:E1788D;ENSP00000386850:E641D	ENSP00000272666:E884D	E	+	3	2	MYO7B	128107339	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.114000	0.31196	0.737000	0.32582	0.555000	0.69702	GAG		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	15	1	0	0.248553	1	0.248844	6	15				
ZYG11B	79699	broad.mit.edu	37	1	53261994	53261994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53261994G>A	ENST00000294353.6	+	7	1510	c.1365G>A	c.(1363-1365)tgG>tgA	p.W455*	ZYG11B_ENST00000443756.2_Nonsense_Mutation_p.W455*|ZYG11B_ENST00000545132.1_Nonsense_Mutation_p.W455*	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	455										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TCATGCAGTGGCTTTGCAACC	0.443																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(1363-1365)tgG>tgA		zyg-11 family member B, cell cycle regulator							90.0	86.0	88.0					1																	53261994		2203	4300	6503	SO:0001587	stop_gained	79699						protein binding	g.chr1:53261994G>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1365G>A	1.37:g.53261994G>A	ENSP00000294353:p.Trp455*					ZYG11B_ENST00000443756.2_Nonsense_Mutation_p.W455*|ZYG11B_ENST00000545132.1_Nonsense_Mutation_p.W455*	p.W455*	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			7	1510	+			455					Q8N2X3|Q9H8L8	Nonsense_Mutation	SNP	ENST00000294353.6	37	c.1365G>A	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	39	7.392742	0.98255	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	.	.	.	5.19	5.19	0.71726	.	0.129645	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	18.724	0.91705	0.0:0.0:1.0:0.0	.	.	.	.	X	455	.	ENSP00000294353:W455X	W	+	3	0	ZYG11B	53034582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.738000	0.98835	2.428000	0.82296	0.563000	0.77884	TGG		0.443	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		13	19	0	0	0	1	0	13	19				
TAF1L	138474	broad.mit.edu	37	9	32633053	32633053	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32633053C>T	ENST00000242310.4	-	1	2614	c.2525G>A	c.(2524-2526)cGg>cAg	p.R842Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	842					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCGTATCCTCCGTGGCCGATC	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2524-2526)cGg>cAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							108.0	114.0	112.0					9																	32633053		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633053C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2525G>A	9.37:g.32633053C>T	ENSP00000418379:p.Arg842Gln						p.R842Q	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2614	-			842					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2525G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655360	0.67586	.	.	ENSG00000122728	ENST00000242310	T	0.13901	2.55	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.78916	2.43	0.53005	D	0.999967	D	0.89917	1.0	D	0.80764	0.994	T	0.05435	-1.0885	10	0.87932	D	0	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	842	Q8IZX4	TAF1L_HUMAN	Q	842	ENSP00000418379:R842Q	ENSP00000418379:R842Q	R	-	2	0	TAF1L	32623053	1.000000	0.71417	0.997000	0.53966	0.851000	0.48451	4.927000	0.63440	0.632000	0.30432	0.195000	0.17529	CGG		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			38	84	0	0	0	1	0	38	84				
WDR90	197335	broad.mit.edu	37	16	708965	708965	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:708965G>A	ENST00000293879.4	+	24	2965	c.2965G>A	c.(2965-2967)Gca>Aca	p.A989T	WDR90_ENST00000549091.1_Missense_Mutation_p.A989T|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	989										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGTCCTCAGCGCAGGGGACGC	0.647																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2965-2967)Gca>Aca		WD repeat domain 90							81.0	98.0	92.0					16																	708965		2120	4232	6352	SO:0001583	missense	197335							g.chr16:708965G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2965G>A	16.37:g.708965G>A	ENSP00000293879:p.Ala989Thr					WDR90_ENST00000293879.4_Missense_Mutation_p.A989T	p.A989T	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			24	3057	+		Hepatocellular(780;0.0218)	989					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2965G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268920	0.59540	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.64618	-0.11;-0.11	4.79	2.8	0.32819	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.340919	0.26062	U	0.026569	T	0.59972	0.2233	L	0.47190	1.495	0.80722	D	1	P;D	0.58970	0.948;0.984	B;P	0.50490	0.325;0.642	T	0.57963	-0.7720	10	0.37606	T	0.19	.	10.3505	0.43931	0.1631:0.0:0.8369:0.0	.	989;989	F8VUX9;Q96KV7	.;WDR90_HUMAN	T	989	ENSP00000448122:A989T;ENSP00000293879:A989T	ENSP00000293879:A989T	A	+	1	0	WDR90	648966	0.995000	0.38212	0.263000	0.24496	0.241000	0.25554	2.407000	0.44565	1.012000	0.39366	0.655000	0.94253	GCA		0.647	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		25	42	0	0	0	1	0	25	42				
ZSWIM5	57643	broad.mit.edu	37	1	45485814	45485814	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45485814C>T	ENST00000359600.5	-	13	2824	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	873						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTCATCCGCATCACCTGGG	0.517																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2617-2619)atG>atA		zinc finger, SWIM-type containing 5							80.0	80.0	80.0					1																	45485814		2039	4173	6212	SO:0001583	missense	57643						zinc ion binding	g.chr1:45485814C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2619G>A	1.37:g.45485814C>T	ENSP00000352614:p.Met873Ile						p.M873I	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			13	2824	-	Acute lymphoblastic leukemia(166;0.155)		873					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2619G>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611974	0.66558	.	.	ENSG00000162415	ENST00000359600	T	0.47528	0.84	4.32	4.32	0.51571	.	0.037811	0.85682	D	0.000000	T	0.53190	0.1781	M	0.64997	1.995	0.58432	D	0.999999	B	0.31274	0.317	B	0.38194	0.267	T	0.60000	-0.7348	10	0.66056	D	0.02	-14.3088	18.1118	0.89538	0.0:1.0:0.0:0.0	.	873	Q9P217	ZSWM5_HUMAN	I	873	ENSP00000352614:M873I	ENSP00000352614:M873I	M	-	3	0	ZSWIM5	45258401	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.544000	0.67231	2.694000	0.91930	0.555000	0.69702	ATG		0.517	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		9	18	0	0	0	1	0	9	18				
USP34	9736	broad.mit.edu	37	2	61575066	61575066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:61575066G>A	ENST00000398571.2	-	15	2300	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	742					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAAATTGTCGACAATTAAAT	0.428																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2224-2226)Cga>Tga		ubiquitin specific peptidase 34							87.0	88.0	87.0					2																	61575066		1978	4160	6138	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575066G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2224C>T	2.37:g.61575066G>A	ENSP00000381577:p.Arg742*						p.R742*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2300	-			742					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.2224C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736501	0.89482	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.28	2.41	0.29592	.	0.062472	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1012	0.30859	0.0706:0.0:0.5247:0.4047	.	.	.	.	X	590;590;742	.	ENSP00000263989:R590X	R	-	1	2	USP34	61428570	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	4.402000	0.59722	0.206000	0.20587	-0.188000	0.12872	CGA		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			38	41	0	0	0	1	0	38	41				
CSMD1	64478	broad.mit.edu	37	8	2830794	2830794	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2830794G>A	ENST00000520002.1	-	58	9326	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P2924L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2866L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2923L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2866L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2865L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2924	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGGTCCCCGGATCACCACA	0.473																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8770-8772)cCg>cTg		CUB and Sushi multiple domains 1							163.0	162.0	162.0					8																	2830794		1867	4122	5989	SO:0001583	missense	64478					integral to membrane		g.chr8:2830794G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8771C>T	8.37:g.2830794G>A	ENSP00000430733:p.Pro2924Leu					CSMD1_ENST00000400186.3_Missense_Mutation_p.P2866L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2866L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2924L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2923L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2865L	p.P2924L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9326	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2924			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8771C>T		.	.	.	.	.	.	.	.	.	.	G	17.16	3.319572	0.60524	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.21	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	L	0.56396	1.775	0.80722	D	1	P;D;D	0.56287	0.916;0.975;0.961	B;P;P	0.58130	0.387;0.833;0.66	D	0.90896	0.4765	10	0.87932	D	0	.	18.7778	0.91918	0.0:0.0:1.0:0.0	.	2924;2924;2865	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2866;2924;2785;2923;2865	ENSP00000383047:P2866L;ENSP00000430733:P2924L;ENSP00000441462:P2923L;ENSP00000446243:P2865L	ENSP00000320445:P2785L	P	-	2	0	CSMD1	2818201	1.000000	0.71417	0.510000	0.27712	0.045000	0.14185	9.394000	0.97261	2.423000	0.82170	0.655000	0.94253	CCG		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		37	62	0	0	0	1	0	37	62				
SV2A	9900	broad.mit.edu	37	1	149879689	149879689	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149879689G>A	ENST00000369146.3	-	9	1939	c.1449C>T	c.(1447-1449)cgC>cgT	p.R483R	SV2A_ENST00000369145.1_Silent_p.R483R	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	483					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACACTTTGGTGCGGGATGCGT	0.517																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(1447-1449)cgC>cgT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						159.0	155.0	157.0					1																	149879689		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149879689G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1449C>T	1.37:g.149879689G>A						SV2A_ENST00000369145.1_Silent_p.R483R	p.R483R	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		9	1939	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		483					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1449C>T	CCDS940.1																																																																																				0.517	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			16	98	0	0	0	1	0	16	98				
EIF4EBP2	1979	broad.mit.edu	37	10	72179743	72179743	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:72179743C>T	ENST00000373218.4	+	2	242	c.219C>T	c.(217-219)tgC>tgT	p.C73C		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	73					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						CCCCACCCTGCCACCTGCCCA	0.448																																						ENST00000373218.4																			0				large_intestine(1)	1						c.(217-219)tgC>tgT		eukaryotic translation initiation factor 4E binding protein 2							85.0	84.0	85.0					10																	72179743		2203	4300	6503	SO:0001819	synonymous_variant	1979				negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding	g.chr10:72179743C>T		CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.219C>T	10.37:g.72179743C>T							p.C73C	NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN			2	242	+			73						Silent	SNP	ENST00000373218.4	37	c.219C>T	CCDS7303.1																																																																																				0.448	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096		37	40	0	0	0	1	0	37	40				
TOPORS	10210	broad.mit.edu	37	9	32542457	32542457	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32542457C>T	ENST00000360538.2	-	3	2182	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	TOPORS_ENST00000379858.1_Missense_Mutation_p.R624H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	689	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATAATAACGATCTCTATT	0.388																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2065-2067)cGt>cAt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							180.0	187.0	185.0					9																	32542457		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542457C>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2066G>A	9.37:g.32542457C>T	ENSP00000353735:p.Arg689His					TOPORS_ENST00000379858.1_Missense_Mutation_p.R624H	p.R689H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2182	-			689			Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2066G>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763566	0.31228	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16597	2.33;2.37	6.03	3.1	0.35709	.	0.257927	0.28296	N	0.015873	T	0.08846	0.0219	N	0.19112	0.55	0.25320	N	0.989124	B	0.12630	0.006	B	0.04013	0.001	T	0.15321	-1.0441	10	0.38643	T	0.18	-9.7996	3.6577	0.08226	0.1713:0.5446:0.0:0.2841	.	689	Q9NS56	TOPRS_HUMAN	H	689;624	ENSP00000353735:R689H;ENSP00000369187:R624H	ENSP00000353735:R689H	R	-	2	0	TOPORS	32532457	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.936000	0.40183	1.564000	0.49628	0.557000	0.71058	CGT		0.388	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		23	99	0	0	0	1	0	23	99				
GGNBP2	79893	broad.mit.edu	37	17	34943623	34943623	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:34943623C>T	ENST00000304718.4	+	13	2154	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTACAGAAACGTTGTTTGGT	0.463																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1837-1839)aCg>aTg		gametogenetin binding protein 2							211.0	202.0	205.0					17																	34943623		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34943623C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1838C>T	17.37:g.34943623C>T	ENSP00000307617:p.Thr613Met						p.T613M	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	2154	+		Breast(25;0.00957)|Ovarian(249;0.17)	613					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1838C>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	7.284	0.609725	0.14066	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.93	2.88	0.33553	.	0.456645	0.24046	N	0.042058	T	0.21631	0.0521	N	0.08118	0	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16100	-1.0414	9	0.48119	T	0.1	0.3811	8.5742	0.33587	0.0:0.6783:0.0:0.3217	.	613	Q9H3C7	GGNB2_HUMAN	M	613	.	ENSP00000307617:T613M	T	+	2	0	GGNBP2	32017736	0.617000	0.27043	0.003000	0.11579	0.725000	0.41563	0.957000	0.29215	0.403000	0.25479	0.561000	0.74099	ACG		0.463	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	79	0	0	0	1	0	55	79				
VHL	7428	broad.mit.edu	37	3	10191469	10191469	+	Splice_Site	SNP	A	A	G	rs5030816		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10191469A>G	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|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)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(8)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGCCCTTCCAGTGTATACTC	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		8	Unknown(8)	p.?(8)	kidney(7)|adrenal_gland(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CS941546|CS961704|CS961705	VHL	S	rs5030816	c.e3-1		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							87.0	79.0	82.0					3																	10191469		2203	4300	6503	SO:0001630	splice_region_variant	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191469A>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1A>G	3.37:g.10191469A>G						VHL_ENST00000345392.2_Splice_Site|VHL_ENST00000477538.1_Splice_Site		NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1303	+								B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37		CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147006	0.37923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2441	0.54560	1.0:0.0:0.0:0.0	rs5030816	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166469	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	6.694000	0.74587	2.052000	0.61016	0.533000	0.62120	.		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	Intron	14	22	0	0	0	1	0	14	22				
UBA7	7318	broad.mit.edu	37	3	49842153	49842153	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49842153C>T	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Silent_p.N199N	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGTGCACAACTGGATGGAGC	0.627																																						ENST00000333323.4																			0											c.(595-597)aaC>aaT		family with sequence similarity 212, member A							71.0	69.0	70.0					3																	49842153		2202	4300	6502	SO:0001628	intergenic_variant	389119							g.chr3:49842153C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842153C>T							p.N199N	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	730	+			197					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.597C>T	CCDS2805.1																																																																																				0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		16	28	0	0	0	1	0	16	28				
NDNF	79625	broad.mit.edu	37	4	121958203	121958203	+	Missense_Mutation	SNP	G	G	A	rs143991157		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:121958203G>A	ENST00000379692.4	-	4	1449	c.923C>T	c.(922-924)aCg>aTg	p.T308M	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	308	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTAGTACTGCGTGTCGGGTTT	0.458																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(922-924)aCg>aTg		neuron-derived neurotrophic factor							149.0	133.0	139.0					4																	121958203		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958203G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.923C>T	4.37:g.121958203G>A	ENSP00000369014:p.Thr308Met						p.T308M	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1449	-			308			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.923C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900231	0.52227	.	.	ENSG00000173376	ENST00000379692	T	0.61158	0.13	5.88	5.04	0.67666	.	0.042495	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45137	1.4	0.80722	D	1	P	0.43826	0.818	B	0.35114	0.196	T	0.56926	-0.7898	10	0.66056	D	0.02	-21.9663	15.3175	0.74092	0.0677:0.0:0.9323:0.0	.	308	Q8TB73	NDNF_HUMAN	M	308	ENSP00000369014:T308M	ENSP00000369014:T308M	T	-	2	0	NDNF	122177653	1.000000	0.71417	0.851000	0.33527	0.970000	0.65996	5.788000	0.69020	2.774000	0.95407	0.655000	0.94253	ACG		0.458	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		12	62	0	0	0	1	0	12	62				
BBS12	166379	broad.mit.edu	37	4	123665162	123665162	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123665162G>A	ENST00000314218.3	+	2	2308	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	BBS12_ENST00000542236.1_Silent_p.T705T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	705					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGGAATTAACGGGCTTTCTAT	0.348									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(2113-2115)acG>acA		Bardet-Biedl syndrome 12							67.0	73.0	71.0					4																	123665162		2202	4297	6499	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665162G>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.2115G>A	4.37:g.123665162G>A						BBS12_ENST00000314218.3_Silent_p.T705T	p.T705T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2496	+			705					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.2115G>A	CCDS3728.1																																																																																				0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		31	44	0	0	0	1	0	31	44				
TADA2A	6871	broad.mit.edu	37	17	35836996	35836996	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35836996C>T	ENST00000394395.2	+	16	1414	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	TADA2A_ENST00000225396.6_Missense_Mutation_p.A414V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	414	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTAAGACTGGCGCAGGCAAGA	0.443																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1240-1242)gCg>gTg		transcriptional adaptor 2A							176.0	179.0	178.0					17																	35836996		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35836996C>T	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1241C>T	17.37:g.35836996C>T	ENSP00000377918:p.Ala414Val					TADA2A_ENST00000225396.6_Missense_Mutation_p.A414V	p.A414V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			16	1414	+			414			SWIRM.		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1241C>T	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608831	0.96637	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.68447	-0.5406	10	0.39692	T	0.17	-12.528	20.3398	0.98759	0.0:1.0:0.0:0.0	.	414	O75478	TAD2A_HUMAN	V	414;313;414	ENSP00000377918:A414V;ENSP00000225396:A414V	ENSP00000225396:A414V	A	+	2	0	TADA2A	32911109	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.629000	0.83207	2.811000	0.96726	0.557000	0.71058	GCG		0.443	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		41	89	0	0	0	1	0	41	89				
PGAM2	5224	broad.mit.edu	37	7	44104760	44104760	+	Silent	SNP	C	C	T	rs202087044		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44104760C>T	ENST00000297283.3	-	1	426	c.369G>A	c.(367-369)ccG>ccA	p.P123P	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	123	Poly-Pro.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CCATCGGGGGCGGCGGGATGT	0.632																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(367-369)ccG>ccA		phosphoglycerate mutase 2 (muscle)							51.0	50.0	50.0					7																	44104760		2203	4300	6503	SO:0001819	synonymous_variant	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44104760C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.369G>A	7.37:g.44104760C>T						AC017116.11_ENST00000445938.1_RNA	p.P123P	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			1	426	-			123			Poly-Pro.			Silent	SNP	ENST00000297283.3	37	c.369G>A	CCDS34624.1																																																																																				0.632	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			11	18	0	0	0	1	0	11	18				
RNMT	8731	broad.mit.edu	37	18	13737029	13737029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13737029C>T	ENST00000383314.2	+	5	814	c.574C>T	c.(574-576)Cga>Tga	p.R192*	RNMT_ENST00000592764.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000543302.2_Nonsense_Mutation_p.R192*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000262173.3_Nonsense_Mutation_p.R192*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	192	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGAAAAGGTACGACAGAAGAA	0.343																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(574-576)Cga>Tga		RNA (guanine-7-) methyltransferase							108.0	109.0	109.0					18																	13737029		2203	4300	6503	SO:0001587	stop_gained	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737029C>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.574C>T	18.37:g.13737029C>T	ENSP00000372804:p.Arg192*					RNMT_ENST00000543302.2_Nonsense_Mutation_p.R192*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.R192*|RNMT_ENST00000589866.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.R192*|RNMT_ENST00000535051.1_5'UTR	p.R192*			O43148	MCES_HUMAN			5	814	+			192					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Nonsense_Mutation	SNP	ENST00000383314.2	37	c.574C>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	C	37	6.481328	0.97603	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.62	2.83	0.33086	.	0.115517	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-18.6545	9.5465	0.39284	0.2559:0.6777:0.0:0.0664	.	.	.	.	X	192;192;14;192	.	ENSP00000262173:R192X	R	+	1	2	RNMT	13727029	0.981000	0.34729	0.365000	0.25901	0.699000	0.40488	1.051000	0.30417	0.300000	0.22699	0.650000	0.86243	CGA		0.343	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		12	25	0	0	0	1	0	12	25				
CACNA1G	8913	broad.mit.edu	37	17	48694872	48694872	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48694872G>A	ENST00000359106.5	+	29	5095	c.5095G>A	c.(5095-5097)Gcc>Acc	p.A1699T	CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1706T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1654T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1665T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1654T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1681T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1676T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1647T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1658T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1676T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1642T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1699T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1681T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1699					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1699T(1)|p.A1665T(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGAGGTCAACGCCTCGCTGCC	0.617																																						ENST00000352832.5																			2	Substitution - Missense(2)	p.A1699T(1)|p.A1665T(1)	large_intestine(2)	breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4993-4995)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						71.0	73.0	72.0					17																	48694872		2172	4268	6440	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48694872G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5095G>A	17.37:g.48694872G>A	ENSP00000352011:p.Ala1699Thr					CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1654T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1699T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1706T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1647T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1665T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1665T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1654T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1658T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1676T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1676T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1681T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1688T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1699T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1699T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1642T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1681T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1665T	p.A1665T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		27	5365	+	Breast(11;6.7e-17)		1699					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4993G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.532979	0.96446	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97870	0.9300	N	0.20986	0.625	0.80722	D	1	B;D;P;P;P;P;P;D;P;D;D;D;P;D;P;P;D;D;D;D;P;B;D;D;D	0.89917	0.176;0.997;0.897;0.831;0.942;0.941;0.9;0.988;0.9;1.0;0.997;0.962;0.764;1.0;0.9;0.635;0.994;0.984;0.994;0.995;0.613;0.432;0.977;0.997;1.0	B;D;P;P;P;P;P;P;P;D;P;P;P;D;P;B;P;P;D;D;B;B;P;D;D	0.97110	0.205;0.964;0.685;0.697;0.828;0.685;0.51;0.884;0.51;0.987;0.907;0.754;0.575;1.0;0.51;0.311;0.884;0.772;0.928;0.947;0.326;0.242;0.853;0.952;0.999	D	0.99804	1.1037	10	0.54805	T	0.06	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1642;1654;1647;1681;1654;1681;1706;1665;1699;1688;1699;1676;1688;1688;1681;1688;1699;1676;1699;1665;1658;1665;1676;1699;1665	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	T	1676;1665;1665;1658;1676;1688;1654;1642;1647;1665;1699;1688;1654;1699;1665;1699;1681;1688;1706;1665;1699;1681;1681;1699;1688	ENSP00000353990:A1676T;ENSP00000339302:A1665T;ENSP00000347078:A1665T;ENSP00000409759:A1658T;ENSP00000425522:A1676T;ENSP00000426261:A1688T;ENSP00000425451:A1654T;ENSP00000422407:A1642T;ENSP00000426814:A1647T;ENSP00000427238:A1665T;ENSP00000423112:A1699T;ENSP00000420918:A1688T;ENSP00000426172:A1654T;ENSP00000423045:A1699T;ENSP00000427173:A1665T;ENSP00000426098:A1699T;ENSP00000425698:A1681T;ENSP00000426232:A1688T;ENSP00000423317:A1706T;ENSP00000350979:A1665T;ENSP00000352011:A1699T;ENSP00000414388:A1681T;ENSP00000423155:A1681T;ENSP00000422268:A1699T;ENSP00000421518:A1688T	ENSP00000339302:A1665T	A	+	1	0	CACNA1G	46049871	1.000000	0.71417	0.963000	0.40424	0.885000	0.51271	9.869000	0.99810	2.348000	0.79779	0.655000	0.94253	GCC		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	31	0	0	0	1	0	10	31				
C11orf53	341032	broad.mit.edu	37	11	111156466	111156466	+	Missense_Mutation	SNP	C	C	T	rs376710383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111156466C>T	ENST00000280325.4	+	4	545	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	133										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCACCCAGCACGAGTTGCCTC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20547	0.0		0.001	False		,,,				2504	0.0					ENST00000280325.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(397-399)aCg>aTg		chromosome 11 open reading frame 53		C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	76.0	68.0	71.0		398	4.8	0.2	11		71	0,8594		0,0,4297	no	missense	C11orf53	NM_198498.1	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	133/237	111156466	1,12995	2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156466C>T	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.398C>T	11.37:g.111156466C>T	ENSP00000280325:p.Thr133Met						p.T133M	NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	545	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	133						Missense_Mutation	SNP	ENST00000280325.4	37	c.398C>T	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362930	0.61403	2.27E-4	0.0	ENSG00000150750	ENST00000280325	.	.	.	4.8	4.8	0.61643	.	0.316608	0.32068	N	0.006634	T	0.52885	0.1762	L	0.45581	1.43	0.09310	N	0.999991	D	0.76494	0.999	P	0.59288	0.855	T	0.48186	-0.9057	9	0.51188	T	0.08	-4.2683	15.3596	0.74460	0.0:1.0:0.0:0.0	.	133	Q8IXP5	CK053_HUMAN	M	133	.	ENSP00000280325:T133M	T	+	2	0	C11orf53	110661676	0.027000	0.19231	0.166000	0.22797	0.941000	0.58515	3.160000	0.50739	2.215000	0.71742	0.561000	0.74099	ACG		0.632	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		13	32	0	0	0	1	0	13	32				
PRR30	339779	broad.mit.edu	37	2	27360614	27360614	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27360614C>T	ENST00000335524.3	-	3	1109	c.584G>A	c.(583-585)tGc>tAc	p.C195Y		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		195										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGCACGCATCTCTCCAC	0.657																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(583-585)tGc>tAc		chromosome 2 open reading frame 53							42.0	44.0	44.0					2																	27360614		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27360614C>T																												ENST00000335524.3:c.584G>A	2.37:g.27360614C>T	ENSP00000335017:p.Cys195Tyr						p.C195Y	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1109	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.584G>A	CCDS1739.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.42|12.42	1.931418|1.931418	0.34096|0.34096	.|.	.|.	ENSG00000186143|ENSG00000186143	ENST00000335524|ENST00000432962	T|.	0.58652|.	0.32|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.41396|.	D|.	0.000898|.	T|T	0.47358|0.47358	0.1441|0.1441	L|L	0.32530|0.32530	0.975|0.975	0.30199|0.30199	N|N	0.798751|0.798751	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.52909|0.52909	-0.8512|-0.8512	10|6	0.87932|0.87932	D|D	0|0	-14.8151|-14.8151	12.9224|12.9224	0.58241|0.58241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195|.	Q53SZ7|.	CB053_HUMAN|.	Y|I	195|30	ENSP00000335017:C195Y|.	ENSP00000335017:C195Y|ENSP00000393468:M30I	C|M	-|-	2|3	0|0	C2orf53|C2orf53	27214118|27214118	0.240000|0.240000	0.23847|0.23847	0.487000|0.487000	0.27428|0.27428	0.012000|0.012000	0.07955|0.07955	3.506000|3.506000	0.53364|0.53364	2.401000|2.401000	0.81631|0.81631	0.561000|0.561000	0.74099|0.74099	TGC|ATG		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			12	22	0	0	0	1	0	12	22				
FMN2	56776	broad.mit.edu	37	1	240372032	240372032	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240372032G>T	ENST00000319653.9	+	5	4150	c.3920G>T	c.(3919-3921)aGa>aTa	p.R1307I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1307	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATAGTAAAAGGTAACATGAA	0.418																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.e5+1		formin 2							65.0	71.0	69.0					1																	240372032		2203	4300	6503	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240372032G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3920+1G>T	1.37:g.240372032G>T							p.R1307_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	4150	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1307			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	ENST00000319653.9	37	c.3920_splice	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608259	0.46527	.	.	ENSG00000155816	ENST00000319653	T	0.19394	2.15	4.81	3.9	0.45041	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	U	0.000007	T	0.38665	0.1049	M	0.78344	2.41	0.80722	D	1	P	0.47106	0.89	P	0.55713	0.782	T	0.15378	-1.0439	9	.	.	.	.	10.1865	0.43000	0.0766:0.1362:0.7872:0.0	.	1307	Q9NZ56	FMN2_HUMAN	I	1307	ENSP00000318884:R1307I	.	R	+	2	0	FMN2	238438655	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.710000	0.61873	1.019000	0.39547	0.478000	0.44815	AGA		0.418	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Missense_Mutation	13	23	1	0	3.27435e-08	1	3.44876e-08	13	23				
LLGL1	3996	broad.mit.edu	37	17	18137432	18137432	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18137432G>A	ENST00000316843.4	+	6	753	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	219					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCGGGGCCTGCTGGTCATCT	0.627																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(655-657)ctG>ctA		lethal giant larvae homolog 1 (Drosophila)							34.0	39.0	37.0					17																	18137432		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137432G>A		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.657G>A	17.37:g.18137432G>A							p.L219L	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			6	753	+	all_neural(463;0.228)		219					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.657G>A	CCDS32586.1																																																																																				0.627	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	17	0	0	0	1	0	4	17				
GTDC1	79712	broad.mit.edu	37	2	144903304	144903304	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:144903304G>A	ENST00000392869.2	-	4	334	c.182C>T	c.(181-183)aCc>aTc	p.T61I	GTDC1_ENST00000409298.1_Missense_Mutation_p.T61I|GTDC1_ENST00000409214.1_Missense_Mutation_p.T61I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Missense_Mutation_p.T61I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T61I|GTDC1_ENST00000542155.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T61I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	61					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGCAAAGAGGGTCCTAGGAAA	0.458																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(181-183)aCc>aTc		glycosyltransferase-like domain containing 1							89.0	86.0	87.0					2																	144903304		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144903304G>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.182C>T	2.37:g.144903304G>A	ENSP00000376608:p.Thr61Ile					GTDC1_ENST00000542155.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T61I|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000241391.5_Missense_Mutation_p.T61I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T61I|GTDC1_ENST00000392869.1_Missense_Mutation_p.T61I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T61I	p.T61I	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	460	-			61					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.182C>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089887	0.20390	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.73	1.73	0.24493	Glycosyltransferase family 1, N-terminal (1);	0.444031	0.26470	N	0.024197	T	0.17280	0.0415	N	0.03608	-0.345	0.29551	N	0.851371	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.0;0.001	T	0.21008	-1.0258	10	0.15499	T	0.54	1.7024	9.963	0.41708	0.8027:0.0:0.1973:0.0	.	61;61;61;61;61	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	I	61	ENSP00000376608:T61I;ENSP00000386581:T61I;ENSP00000376606:T61I;ENSP00000386691:T61I;ENSP00000438323:T61I;ENSP00000241391:T61I;ENSP00000339750:T61I;ENSP00000403869:T61I;ENSP00000400661:T61I	ENSP00000241391:T61I	T	-	2	0	GTDC1	144619774	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.341000	0.59335	0.145000	0.18977	-0.455000	0.05494	ACC		0.458	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		15	20	0	0	0	1	0	15	20				
TOP2A	7153	broad.mit.edu	37	17	38548889	38548889	+	Silent	SNP	G	G	A	rs190200755	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38548889G>A	ENST00000423485.1	-	30	4070	c.3912C>T	c.(3910-3912)gaC>gaT	p.D1304D	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1304					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATTACTTTCGTCACTGCTCC	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		17689	0.002		0.0	False		,,,				2504	0.0					ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(3910-3912)gaC>gaT		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	G		0,3782		0,0,1891	270.0	249.0	256.0		3912	-6.1	0.0	17		256	1,8213		0,1,4106	no	coding-synonymous	TOP2A	NM_001067.3		0,1,5997	AA,AG,GG		0.0122,0.0,0.0083		1304/1532	38548889	1,11995	1891	4107	5998	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38548889G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3912C>T	17.37:g.38548889G>A							p.D1304D	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		30	4070	-		Breast(137;0.00328)	1304					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.3912C>T	CCDS45672.1																																																																																				0.388	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			41	90	0	0	0	1	0	41	90				
ZNF324	25799	broad.mit.edu	37	19	58983156	58983156	+	Missense_Mutation	SNP	G	G	A	rs374316385		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58983156G>A	ENST00000536459.2	+	4	2006	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	ZNF324_ENST00000196482.3_Missense_Mutation_p.A433T|ZNF324_ENST00000535298.1_Missense_Mutation_p.A210T|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCGGCCGCGCCTTTAGCCA	0.687																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1297-1299)Gcc>Acc		zinc finger protein 324		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	40.0	41.0	41.0		1297	3.8	1.0	19		41	0,8598		0,0,4299	no	missense	ZNF324	NM_014347.2	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	433/554	58983156	1,13003	2203	4299	6502	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983156G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1297G>A	19.37:g.58983156G>A	ENSP00000444812:p.Ala433Thr					ZNF324_ENST00000535298.1_Missense_Mutation_p.A210T|ZNF324_ENST00000196482.3_Missense_Mutation_p.A433T	p.A433T			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2006	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	433					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1297G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594091	0.46214	2.27E-4	0.0	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.16897	2.31;2.31;2.56	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000837	T	0.13713	0.0332	N	0.13235	0.315	0.30207	N	0.798127	P	0.49185	0.92	P	0.49829	0.623	T	0.01805	-1.1270	10	0.45353	T	0.12	.	9.0291	0.36247	0.0:0.0:0.7802:0.2197	.	433	O75467	Z324A_HUMAN	T	433;433;423;210	ENSP00000196482:A433T;ENSP00000444812:A433T;ENSP00000439588:A210T	ENSP00000196482:A433T	A	+	1	0	ZNF324	63674968	0.000000	0.05858	0.994000	0.49952	0.358000	0.29455	-0.464000	0.06688	2.433000	0.82419	0.400000	0.26472	GCC		0.687	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		22	32	0	0	0	1	0	22	32				
TMC5	79838	broad.mit.edu	37	16	19455537	19455537	+	Missense_Mutation	SNP	G	G	A	rs377325174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:19455537G>A	ENST00000396229.2	+	4	1672	c.923G>A	c.(922-924)gGc>gAc	p.G308D	TMC5_ENST00000541464.1_Missense_Mutation_p.G308D|TMC5_ENST00000381414.4_Missense_Mutation_p.G308D|TMC5_ENST00000542583.2_Missense_Mutation_p.G308D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	308					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACTCATATGGCCACTCTCTG	0.488																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(922-924)gGc>gAc		transmembrane channel-like 5		G	ASP/GLY,ASP/GLY	3,3843		0,3,1920	92.0	92.0	92.0		923,923	0.7	0.0	16		92	0,8272		0,0,4136	no	missense,missense	TMC5	NM_001105248.1,NM_001105249.1	94,94	0,3,6056	AA,AG,GG		0.0,0.078,0.0248	probably-damaging,probably-damaging	308/1007,308/949	19455537	3,12115	1923	4136	6059	SO:0001583	missense	79838					integral to membrane		g.chr16:19455537G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.923G>A	16.37:g.19455537G>A	ENSP00000379531:p.Gly308Asp					TMC5_ENST00000542583.2_Missense_Mutation_p.G308D|TMC5_ENST00000541464.1_Missense_Mutation_p.G308D|TMC5_ENST00000381414.4_Missense_Mutation_p.G308D	p.G308D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			4	1672	+			308					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.923G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252609	0.22880	7.8E-4	0.0	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	3.7	0.661	0.17874	.	3.450510	0.00541	N	0.000225	T	0.52565	0.1742	L	0.44542	1.39	0.09310	N	1	D;D;B	0.58268	0.982;0.982;0.376	P;P;B	0.55667	0.743;0.781;0.134	T	0.32693	-0.9897	10	0.30854	T	0.27	-0.8975	5.6074	0.17387	0.3606:0.0:0.6394:0.0	.	308;308;308	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	D	308	ENSP00000441227:G308D;ENSP00000370822:G308D;ENSP00000379531:G308D;ENSP00000446274:G308D	ENSP00000370822:G308D	G	+	2	0	TMC5	19363038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.002000	0.13061	0.181000	0.19994	0.655000	0.94253	GGC		0.488	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		4	49	0	0	0	1	0	4	49				
CACNA1C	775	broad.mit.edu	37	12	2675634	2675634	+	Missense_Mutation	SNP	G	G	A	rs371702432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2675634G>A	ENST00000347598.4	+	12	1555	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	CACNA1C_ENST00000399601.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A519T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A544T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A519T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	519					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGTGCCGCGCCGCAGTCAA	0.562																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1555-1557)Gcc>Acc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3982		0,0,1991	48.0	54.0	52.0		1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1555,1546,1555,1555,1555,1555,1555	5.3	0.2	12		52	1,8311		0,1,4155	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58,58	0,1,6146	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	519/2139,519/2187,519/2180,519/2174,519/2167,519/2159,519/2158,519/2158,519/2158,519/2156,519/2147,519/2147,519/2145,519/2139,519/2139,519/2139,519/2139,516/2136,519/2128,519/2139,519/2174,519/2199,519/2222	2675634	1,12293	1991	4156	6147	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2675634G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1555G>A	12.37:g.2675634G>A	ENSP00000266376:p.Ala519Thr					CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A519T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A544T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A519T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A519T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A519T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A519T	p.A519T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	12	1820	+			519					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1555G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062835	0.55432	0.0	1.2E-4	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.32	5.32	0.75619	.	0.109611	0.64402	D	0.000007	D	0.94941	0.8364	L	0.44542	1.39	0.80722	D	1	B;D;D;P;D;D;D;D;D;D;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	0.145;1.0;1.0;0.954;0.999;1.0;1.0;1.0;0.973;0.994;1.0;1.0;0.407;1.0;1.0;1.0;1.0;0.796;1.0;0.696;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;B;D;D;D;D;P;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.87578	0.038;0.996;0.959;0.383;0.991;0.998;0.996;0.998;0.682;0.864;0.998;0.996;0.105;0.998;0.99;0.995;0.992;0.068;0.996;0.068;0.992;0.996;0.998;0.992;0.992;0.996	D	0.92296	0.5845	10	0.18710	T	0.47	.	19.1782	0.93612	0.0:0.0:1.0:0.0	.	188;519;516;519;519;519;519;519;519;519;519;519;490;519;519;519;519;519;519;519;519;519;519;519;519;519	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	T	544;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;519;360	ENSP00000336982:A544T;ENSP00000382563:A519T;ENSP00000437936:A519T;ENSP00000382552:A519T;ENSP00000382547:A519T;ENSP00000382506:A519T;ENSP00000382530:A519T;ENSP00000382546:A519T;ENSP00000382500:A519T;ENSP00000382549:A519T;ENSP00000266376:A519T;ENSP00000382515:A519T;ENSP00000382510:A519T;ENSP00000341092:A519T;ENSP00000382537:A519T;ENSP00000329877:A519T;ENSP00000382557:A519T;ENSP00000385724:A519T;ENSP00000382512:A519T;ENSP00000382542:A519T;ENSP00000382526:A519T;ENSP00000385896:A519T;ENSP00000382504:A519T	ENSP00000323129:A360T	A	+	1	0	CACNA1C	2545895	1.000000	0.71417	0.171000	0.22900	0.391000	0.30476	6.387000	0.73191	2.769000	0.95229	0.563000	0.77884	GCC		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		6	1	0	0	0	1	0	6	1				
SLCO5A1	81796	broad.mit.edu	37	8	70674044	70674044	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:70674044C>T	ENST00000260126.4	-	3	1680	c.974G>A	c.(973-975)gGt>gAt	p.G325D	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G325D|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G325D	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AACATAAAAACCAATAAGAAG	0.398																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(973-975)gGt>gAt		solute carrier organic anion transporter family, member 5A1							89.0	87.0	88.0					8																	70674044		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70674044C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.974G>A	8.37:g.70674044C>T	ENSP00000260126:p.Gly325Asp					SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G325D|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G325D	p.G325D	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1680	-	Breast(64;0.0654)		325					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.974G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765526	0.90020	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38401	1.14;1.14;1.14	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	N	0.24115	0.695	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.382;1.0	D;D;B;D	0.79784	0.993;0.99;0.381;0.988	T	0.46843	-0.9162	10	0.42905	T	0.14	.	18.4284	0.90617	0.0:1.0:0.0:0.0	.	325;325;325;325	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	D	325	ENSP00000260126:G325D;ENSP00000434422:G325D;ENSP00000431611:G325D	ENSP00000260126:G325D	G	-	2	0	SLCO5A1	70836598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.433000	0.82419	0.460000	0.39030	GGT		0.398	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		8	52	0	0	0	1	0	8	52				
ASTL	431705	broad.mit.edu	37	2	96789953	96789953	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96789953C>T	ENST00000342380.2	-	9	931	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCCAAAAGCCGCTGCAGAGA	0.642																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(931-933)cGg>cAg		astacin-like metallo-endopeptidase (M12 family)							13.0	17.0	16.0					2																	96789953		2178	4261	6439	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789953C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.932G>A	2.37:g.96789953C>T	ENSP00000343674:p.Arg311Gln						p.R311Q	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	931	-			311						Missense_Mutation	SNP	ENST00000342380.2	37	c.932G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885428	0.17540	.	.	ENSG00000188886	ENST00000342380	T	0.66099	-0.19	4.74	-5.73	0.02398	.	1.580230	0.04502	N	0.381465	T	0.37265	0.0997	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	10	0.23302	T	0.38	-4.9421	7.6319	0.28245	0.0:0.3444:0.1159:0.5397	.	311	Q6HA08	ASTL_HUMAN	Q	311	ENSP00000343674:R311Q	ENSP00000343674:R311Q	R	-	2	0	ASTL	96153680	0.000000	0.05858	0.004000	0.12327	0.020000	0.10135	-0.824000	0.04438	-1.138000	0.02884	-1.914000	0.00519	CGG		0.642	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			8	20	0	0	0	1	0	8	20				
ZNF280B	140883	broad.mit.edu	37	22	22842626	22842626	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22842626G>A	ENST00000406426.1	-	4	1840	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	ZNF280B_ENST00000360412.2_Silent_p.H366H			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGGGCAGTGTGGACATTTT	0.512																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1096-1098)caC>caT		zinc finger protein 280B							133.0	122.0	126.0					22																	22842626		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842626G>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1098C>T	22.37:g.22842626G>A						ZNF280B_ENST00000406426.1_Silent_p.H366H	p.H366H	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1873	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	366						Silent	SNP	ENST00000406426.1	37	c.1098C>T	CCDS13799.1																																																																																				0.512	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		33	64	0	0	0	1	0	33	64				
DAB2IP	153090	broad.mit.edu	37	9	124521263	124521263	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124521263G>A	ENST00000408936.3	+	5	785	c.603G>A	c.(601-603)gtG>gtA	p.V201V	DAB2IP_ENST00000309989.1_Silent_p.V77V|DAB2IP_ENST00000259371.2_Silent_p.V173V			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	201	C2.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCGAGCGGTGCATCCCAACA	0.572																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(601-603)gtG>gtA		DAB2 interacting protein							82.0	71.0	75.0					9																	124521263		2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124521263G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.603G>A	9.37:g.124521263G>A						DAB2IP_ENST00000259371.2_Silent_p.V173V|DAB2IP_ENST00000309989.1_Silent_p.V77V	p.V201V			Q5VWQ8	DAB2P_HUMAN			5	785	+			201			C2.|PH.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.603G>A																																																																																					0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		10	2	0	0	0	1	0	10	2				
PRDM2	7799	broad.mit.edu	37	1	14057532	14057532	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:14057532C>T	ENST00000235372.7	+	3	903	c.47C>T	c.(46-48)gCt>gTt	p.A16V	PRDM2_ENST00000311066.5_Missense_Mutation_p.A16V|PRDM2_ENST00000376048.5_Missense_Mutation_p.A16V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(46-48)gCt>gTt		PR domain containing 2, with ZNF domain							119.0	114.0	116.0					1																	14057532		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14057532C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.47C>T	1.37:g.14057532C>T	ENSP00000235372:p.Ala16Val					PRDM2_ENST00000311066.5_Missense_Mutation_p.A16V|PRDM2_ENST00000376048.5_Missense_Mutation_p.A16V	p.A16V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	3	903	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	16					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.47C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.830868	0.71258	.	.	ENSG00000116731	ENST00000484063;ENST00000376048;ENST00000235372;ENST00000311066;ENST00000400800	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.91	5.91	0.95273	.	0.231136	0.43579	D	0.000544	T	0.68851	0.3046	L	0.59436	1.845	0.44188	D	0.997006	P;P;P	0.46952	0.819;0.887;0.499	B;B;B	0.41860	0.203;0.368;0.119	T	0.69870	-0.5028	10	0.40728	T	0.16	.	15.7964	0.78412	0.0:1.0:0.0:0.0	.	16;16;16	Q13029;Q13029-2;B1AJZ4	PRDM2_HUMAN;.;.	V	16	ENSP00000423010:A16V;ENSP00000365216:A16V;ENSP00000235372:A16V;ENSP00000312352:A16V	ENSP00000235372:A16V	A	+	2	0	PRDM2	13930119	0.984000	0.35163	0.996000	0.52242	0.954000	0.61252	2.640000	0.46579	2.813000	0.96785	0.655000	0.94253	GCT		0.512	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		9	57	0	0	0	1	0	9	57				
POLR2A	5430	broad.mit.edu	37	17	7404358	7404358	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7404358G>A	ENST00000322644.6	+	12	2380	c.1981G>A	c.(1981-1983)Ggt>Agt	p.G661S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	661					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTAGAGATGGGTCATGACAT	0.542																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(1981-1983)Ggt>Agt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							216.0	176.0	190.0					17																	7404358		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404358G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1981G>A	17.37:g.7404358G>A	ENSP00000314949:p.Gly661Ser						p.G661S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			12	2380	+		Prostate(122;0.173)	661					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1981G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312686	0.95655	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.73897	-0.79	6.06	6.06	0.98353	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.88906	2.99	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	D	0.89605	0.3837	10	0.87932	D	0	-9.8259	19.3923	0.94587	0.0:0.0:1.0:0.0	.	661	P24928	RPB1_HUMAN	S	617;661	ENSP00000314949:G661S	ENSP00000314949:G661S	G	+	1	0	SLC35G6	7345082	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.164000	0.94755	2.882000	0.98803	0.655000	0.94253	GGT		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		20	28	0	0	0	1	0	20	28				
SREBF1	6720	broad.mit.edu	37	17	17716711	17716711	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17716711C>A	ENST00000261646.5	-	18	3369	c.3185G>T	c.(3184-3186)aGg>aTg	p.R1062M	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1092M|SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000395757.1_Missense_Mutation_p.R808M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1062					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCCCGCCGCCTCAGACTGCG	0.682																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(3274-3276)aGg>aTg		sterol regulatory element binding transcription factor 1							15.0	18.0	17.0					17																	17716711		2190	4295	6485	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17716711C>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3185G>T	17.37:g.17716711C>A	ENSP00000261646:p.Arg1062Met					SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.R1062M|SREBF1_ENST00000395757.1_Missense_Mutation_p.R808M	p.R1092M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			19	3444	-			1062					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.3275G>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.52|18.52	3.641942|3.641942	0.67244|0.67244	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T	.|0.12984	.|2.63;2.63;2.63	5.33|5.33	3.24|3.24	0.37175|0.37175	.|.	.|0.122542	.|0.51477	.|D	.|0.000098	T|T	0.38026|0.38026	0.1025|0.1025	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.968;0.987;0.996	T|T	0.30707|0.30707	-0.9969|-0.9969	5|10	.|0.87932	.|D	.|0	-25.3258|-25.3258	9.8913|9.8913	0.41292|0.41292	0.1374:0.7881:0.0:0.0745|0.1374:0.7881:0.0:0.0745	.|.	.|1062;1092;681	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	D|M	1069|1092;1062;808;681;899;988	.|ENSP00000348069:R1092M;ENSP00000261646:R1062M;ENSP00000379106:R808M	.|ENSP00000261646:R1062M	E|R	-|-	3|2	2|0	SREBF1|SREBF1	17657436|17657436	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.265000|0.265000	0.26407|0.26407	5.930000|5.930000	0.70104|0.70104	1.174000|1.174000	0.42811|0.42811	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.682	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	1	0	0.00116845	1	0.0011864	6	5				
ANK2	287	broad.mit.edu	37	4	114275899	114275899	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114275899C>T	ENST00000357077.4	+	38	6178	c.6125C>T	c.(6124-6126)gCt>gTt	p.A2042V	ANK2_ENST00000264366.6_Missense_Mutation_p.A2009V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2042					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAGAGAAGCTCAGAAAACA	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6124-6126)gCt>gTt		ankyrin 2, neuronal							56.0	65.0	62.0					4																	114275899		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275899C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6125C>T	4.37:g.114275899C>T	ENSP00000349588:p.Ala2042Val					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2009V|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.A2042V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6178	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2009					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6125C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.300	-0.143161	0.06669	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.19;-0.21	5.31	-2.88	0.05682	.	1.868940	0.02697	N	0.111375	T	0.47135	0.1429	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25222	-1.0138	9	.	.	.	.	8.3473	0.32281	0.0:0.3176:0.1132:0.5692	.	2009;2042	Q01484;Q01484-4	ANK2_HUMAN;.	V	2042;2009	ENSP00000349588:A2042V;ENSP00000264366:A2009V	.	A	+	2	0	ANK2	114495348	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.175000	0.16762	-0.700000	0.05070	-0.251000	0.11542	GCT		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		15	32	0	0	0	1	0	15	32				
DUSP19	142679	broad.mit.edu	37	2	183951789	183951789	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:183951789G>A	ENST00000354221.4	+	3	470	c.295G>A	c.(295-297)Gca>Aca	p.A99T	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron|DUSP19_ENST00000469344.1_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	99					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TCTTAATGTTGCATATGGAGT	0.338																																						ENST00000354221.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						c.(295-297)Gca>Aca		dual specificity phosphatase 19							106.0	106.0	106.0					2																	183951789		2202	4299	6501	SO:0001583	missense	0				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183951789G>A	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.295G>A	2.37:g.183951789G>A	ENSP00000346160:p.Ala99Thr					DUSP19_ENST00000469344.1_Intron|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron	p.A99T	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN			3	470	+			99					B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	c.295G>A	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	g	33	5.226377	0.95173	.	.	ENSG00000162999	ENST00000354221	T	0.58797	0.31	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58261	-0.7667	10	0.06625	T	0.88	.	19.5054	0.95113	0.0:0.0:1.0:0.0	.	99	Q8WTR2	DUS19_HUMAN	T	99	ENSP00000346160:A99T	ENSP00000346160:A99T	A	+	1	0	DUSP19	183660034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	2.674000	0.91012	0.651000	0.88453	GCA		0.338	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			30	33	0	0	0	1	0	30	33				
TNRC6A	27327	broad.mit.edu	37	16	24808870	24808870	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:24808870G>A	ENST00000395799.3	+	10	3750	c.3621G>A	c.(3619-3621)caG>caA	p.Q1207Q	TNRC6A_ENST00000315183.7_Silent_p.Q1207Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1207	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTGTTAAACAGTTTTCAAACA	0.338																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3619-3621)caG>caA		trinucleotide repeat containing 6A							147.0	144.0	145.0					16																	24808870		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24808870G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3621G>A	16.37:g.24808870G>A						TNRC6A_ENST00000315183.7_Silent_p.Q1207Q	p.Q1207Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	10	3750	+			1207			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.3621G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851492	0.17034	.	.	ENSG00000090905	ENST00000450465	.	.	.	6.02	5.06	0.68205	.	.	.	.	.	T	0.61148	0.2324	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57069	-0.7874	4	.	.	.	-5.3667	10.142	0.42740	0.1976:0.0:0.8024:0.0	.	.	.	.	I	147	.	.	V	+	1	0	TNRC6A	24716371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.705000	0.47127	2.850000	0.98022	0.650000	0.86243	GTT		0.338	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	21	0	0	0	1	0	11	21				
TMCC3	57458	broad.mit.edu	37	12	94976111	94976111	+	Silent	SNP	C	C	T	rs140629808	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94976111C>T	ENST00000261226.4	-	2	413	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TMCC3_ENST00000551457.1_Silent_p.A63A	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TCAGATACTCCGCAACATTCC	0.458													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19661	0.0		0.001	False		,,,				2504	0.0					ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(280-282)gcG>gcA		transmembrane and coiled-coil domain family 3		C		11,4395	17.9+/-39.9	0,11,2192	188.0	173.0	178.0		282	-11.2	0.0	12	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMCC3	NM_020698.2		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		94/478	94976111	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94976111C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.282G>A	12.37:g.94976111C>T						TMCC3_ENST00000551457.1_Silent_p.A63A	p.A94A	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	413	-			94					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.282G>A	CCDS31877.1																																																																																				0.458	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		44	83	0	0	0	1	0	44	83				
MYH10	4628	broad.mit.edu	37	17	8448825	8448825	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8448825T>C	ENST00000269243.4	-	12	1480	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	MYH10_ENST00000379980.4_Missense_Mutation_p.K464E|MYH10_ENST00000360416.3_Missense_Mutation_p.K458E|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.K448E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	448	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCTGACGTTTGGTCCTATCC	0.443																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1372-1374)Aaa>Gaa		myosin, heavy chain 10, non-muscle							117.0	112.0	114.0					17																	8448825		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448825T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1342A>G	17.37:g.8448825T>C	ENSP00000269243:p.Lys448Glu					MYH10_ENST00000379980.4_Missense_Mutation_p.K464E|MYH10_ENST00000269243.4_Missense_Mutation_p.K448E|MYH10_ENST00000396239.1_Missense_Mutation_p.K448E	p.K458E	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1510	-			448			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1372A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135391	0.94517	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.86865	-0.6;-0.6;-2.18;-0.6	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.63843	1.955	0.80722	D	1	P;P;P	0.46020	0.871;0.844;0.871	P;P;P	0.53649	0.731;0.611;0.731	D	0.91430	0.5165	10	0.87932	D	0	.	15.1595	0.72771	0.0:0.0:0.0:1.0	.	457;458;448	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	448;458;448;464	ENSP00000269243:K448E;ENSP00000353590:K458E;ENSP00000379539:K448E;ENSP00000369315:K464E	ENSP00000269243:K448E	K	-	1	0	MYH10	8389550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.778000	0.85637	2.216000	0.71823	0.533000	0.62120	AAA		0.443	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			22	39	0	0	0	1	0	22	39				
PLXNA3	55558	broad.mit.edu	37	X	153689978	153689978	+	Splice_Site	SNP	C	C	T	rs201950962		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153689978C>T	ENST00000369682.3	+	3	1309	c.1134C>T	c.(1132-1134)acC>acT	p.T378T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	378	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATCAACACCGTGAGCCCCT	0.637													C|||	4	0.0010596	0.0	0.0	3775	,	,		14517	0.002		0.0	False		,,,				2504	0.002					ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.e3+1		plexin A3							79.0	79.0	79.0					X																	153689978		2184	4253	6437	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689978C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1134+1C>T	X.37:g.153689978C>T							p.T378_splice	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			3	1309	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		378			Sema.		Q5HY36	Splice_Site	SNP	ENST00000369682.3	37	c.1134_splice	CCDS14752.1																																																																																				0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Silent	35	11	0	0	0	1	0	35	11				
HMGCL	3155	broad.mit.edu	37	1	24147063	24147063	+	Silent	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24147063G>C	ENST00000374490.3	-	2	124	c.81C>G	c.(79-81)ggC>ggG	p.G27G	HMGCL_ENST00000374483.4_Silent_p.G2G|HMGCL_ENST00000436439.2_Silent_p.G27G|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	27					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTGGTAAAGTGCCCATAGATG	0.398																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(4-6)ggC>ggG		3-hydroxymethyl-3-methylglutaryl-CoA lyase							143.0	127.0	132.0					1																	24147063		2203	4300	6503	SO:0001819	synonymous_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24147063G>C	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.81C>G	1.37:g.24147063G>C						HMGCL_ENST00000374490.3_Silent_p.G27G|HMGCL_ENST00000436439.2_Silent_p.G27G|HMGCL_ENST00000509389.1_5'UTR	p.G2G			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	3	677	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	27					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	c.6C>G	CCDS243.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.546093	0.13312	.	.	ENSG00000117305	ENST00000235958	.	.	.	5.27	0.542	0.17174	.	.	.	.	.	T	0.22085	0.0532	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	2.1546	3.206	0.06666	0.3064:0.0:0.1833:0.5103	.	.	.	.	G	23	.	.	A	-	2	0	HMGCL	24019650	0.000000	0.05858	0.008000	0.14137	0.846000	0.48090	0.248000	0.18198	0.228000	0.21019	0.558000	0.71614	GCA		0.398	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		24	57	0	0	0	1	0	24	57				
AP2A1	160	broad.mit.edu	37	19	50302734	50302734	+	Silent	SNP	C	C	T	rs371940152	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50302734C>T	ENST00000359032.5	+	9	1116	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	AP2A1_ENST00000354293.5_Silent_p.T372T	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	372					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACATTGACACCGTCATCAATG	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18120	0.0		0.0	False		,,,				2504	0.0					ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1114-1116)acC>acT		adaptor-related protein complex 2, alpha 1 subunit		C	,	1,4231		0,1,2115	20.0	23.0	22.0		1116,1116	-8.5	0.9	19		22	0,8480		0,0,4240	no	coding-synonymous,coding-synonymous	AP2A1	NM_014203.2,NM_130787.2	,	0,1,6355	TT,TC,CC		0.0,0.0236,0.0079	,	372/978,372/956	50302734	1,12711	2116	4240	6356	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302734C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1116C>T	19.37:g.50302734C>T						AP2A1_ENST00000359032.5_Silent_p.T372T	p.T372T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	9	1282	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	372					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1116C>T	CCDS46148.1																																																																																				0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			7	13	0	0	0	1	0	7	13				
MAP3K2	10746	broad.mit.edu	37	2	128065338	128065338	+	Silent	SNP	C	C	T	rs373785879		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128065338C>T	ENST00000409947.1	-	17	1959	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	MAP3K2_ENST00000344908.5_Silent_p.P559P			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CAGCCCAAGGCGGCTTTTCAG	0.408																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1675-1677)ccG>ccA		mitogen-activated protein kinase kinase kinase 2		C		0,3970		0,0,1985	52.0	52.0	52.0		1677	-11.1	0.8	2		52	1,8347		0,1,4173	no	coding-synonymous	MAP3K2	NM_006609.4		0,1,6158	TT,TC,CC		0.012,0.0,0.0081		559/620	128065338	1,12317	1985	4174	6159	SO:0001819	synonymous_variant	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128065338C>T	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1677G>A	2.37:g.128065338C>T						MAP3K2_ENST00000344908.5_Silent_p.P559P	p.P559P			Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	17	1959	-	Colorectal(110;0.1)		559			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1677G>A	CCDS46404.1																																																																																				0.408	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		4	5	0	0	0	1	0	4	5				
CADM3	57863	broad.mit.edu	37	1	159162426	159162426	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:159162426C>T	ENST00000368125.4	+	3	445	c.288C>T	c.(286-288)agC>agT	p.S96S	CADM3_ENST00000368124.4_Silent_p.S130S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	96	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCAGCATCAGCATCAGCAATG	0.527																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(286-288)agC>agT		cell adhesion molecule 3							165.0	132.0	143.0					1																	159162426		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162426C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.288C>T	1.37:g.159162426C>T						CADM3_ENST00000368124.4_Silent_p.S130S	p.S96S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	445	+	all_hematologic(112;0.0429)		96			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.288C>T	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		20	28	0	0	0	1	0	20	28				
ITGB6	3694	broad.mit.edu	37	2	160982962	160982962	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160982962C>T	ENST00000283249.2	-	11	2048	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.C562Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C604Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	604	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGGTTTGTGCAAACACACTT	0.552																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1810-1812)tGc>tAc		integrin, beta 6							103.0	88.0	93.0					2																	160982962		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160982962C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1811G>A	2.37:g.160982962C>T	ENSP00000283249:p.Cys604Tyr					ITGB6_ENST00000428609.2_Missense_Mutation_p.C562Y|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.C604Y	p.C604Y			P18564	ITB6_HUMAN			11	2048	-			604			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1811G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793200	0.70452	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.97831	-4.56;-4.56;-4.56	5.48	5.48	0.80851	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98179	1.0456	10	0.87932	D	0	.	19.3636	0.94453	0.0:1.0:0.0:0.0	.	562;604	E9PEE8;P18564	.;ITB6_HUMAN	Y	604;562;604	ENSP00000283249:C604Y;ENSP00000408024:C562Y;ENSP00000386367:C604Y	ENSP00000283249:C604Y	C	-	2	0	ITGB6	160691208	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	7.818000	0.86416	2.573000	0.86826	0.655000	0.94253	TGC		0.552	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		5	26	0	0	0	1	0	5	26				
LAMA2	3908	broad.mit.edu	37	6	129837346	129837346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:129837346C>T	ENST00000421865.2	+	65	9272	c.9223C>T	c.(9223-9225)Cag>Tag	p.Q3075*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3075	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACCTCAAGCAGTTTGGCCT	0.463																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9223-9225)Cag>Tag		laminin, alpha 2							192.0	188.0	189.0					6																	129837346		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129837346C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9223C>T	6.37:g.129837346C>T	ENSP00000400365:p.Gln3075*						p.Q3075*	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	65	9272	+			3075			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.9223C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	50	16.459293	0.99864	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	.	.	.	X	3075;3074;3075;1093	.	.	Q	+	1	0	LAMA2	129879039	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.369000	0.79578	2.734000	0.93682	0.655000	0.94253	CAG		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			57	112	0	0	0	1	0	57	112				
SLC34A1	6569	broad.mit.edu	37	5	176825064	176825064	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176825064C>T	ENST00000324417.5	+	13	1788	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	566					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGGAGTCCCGGGCACCTG	0.637																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1696-1698)cCc>cTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							93.0	98.0	97.0					5																	176825064		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176825064C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1697C>T	5.37:g.176825064C>T	ENSP00000321424:p.Pro566Leu					SLC34A1_ENST00000513614.1_3'UTR	p.P566L	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1788	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	566					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1697C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520908	0.64747	.	.	ENSG00000131183	ENST00000324417	T	0.37235	1.21	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.83774	2.66	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.67492	-0.5657	10	0.59425	D	0.04	-16.4892	19.057	0.93069	0.0:1.0:0.0:0.0	.	566	Q06495	NPT2A_HUMAN	L	566	ENSP00000321424:P566L	ENSP00000321424:P566L	P	+	2	0	SLC34A1	176757670	1.000000	0.71417	0.614000	0.29051	0.002000	0.02628	7.726000	0.84824	2.491000	0.84063	0.455000	0.32223	CCC		0.637	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		14	57	0	0	0	1	0	14	57				
RSRC1	51319	broad.mit.edu	37	3	158015856	158015856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158015856G>T	ENST00000295930.3	+	5	685	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E117*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E175*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.E175*|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E117*	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	175					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGCTGGATTAGAACATCTGGT	0.308																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(349-351)Gaa>Taa		arginine/serine-rich coiled-coil 1							138.0	146.0	144.0					3																	158015856		2203	4298	6501	SO:0001587	stop_gained	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:158015856G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.523G>T	3.37:g.158015856G>T	ENSP00000295930:p.Glu175*					RSRC1_ENST00000295930.3_Nonsense_Mutation_p.E175*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E117*|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E175*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.E175*	p.E117*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	474	+			175			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	ENST00000295930.3	37	c.349G>T	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.206556|4.206556	0.79127|0.79127	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.055451|.	0.64402|.	D|.	0.000001|.	.|T	.|0.80341	.|0.4605	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.72032|.	D|.	0.01|.	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	175;175;175;117;117;175;175|68	.|.	ENSP00000295930:E175X|.	E|R	+|+	1|2	0|0	RSRC1|RSRC1	159498550|159498550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.229000|9.229000	0.95273|0.95273	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.308	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		14	41	1	0	1.99824e-07	1	2.09433e-07	14	41				
ANAPC2	29882	broad.mit.edu	37	9	140082419	140082419	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140082419G>A	ENST00000323927.2	-	2	258	c.254C>T	c.(253-255)gCc>gTc	p.A85V	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGAGATGTTGGCCTGCAGATC	0.607																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(253-255)gCc>gTc		anaphase promoting complex subunit 2							81.0	85.0	84.0					9																	140082419		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082419G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.254C>T	9.37:g.140082419G>A	ENSP00000314004:p.Ala85Val						p.A85V	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	258	-	all_cancers(76;0.0926)		85					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.254C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583989	0.28268	.	.	ENSG00000176248	ENST00000323927	T	0.71934	-0.61	4.95	4.04	0.47022	.	0.324600	0.35805	N	0.002972	T	0.56470	0.1987	L	0.29908	0.895	0.27517	N	0.951505	B	0.23806	0.091	B	0.19148	0.024	T	0.47315	-0.9127	10	0.30854	T	0.27	-22.4135	11.6524	0.51297	0.0:0.3621:0.6379:0.0	.	85	Q9UJX6	ANC2_HUMAN	V	85	ENSP00000314004:A85V	ENSP00000314004:A85V	A	-	2	0	ANAPC2	139202240	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	3.281000	0.51685	1.041000	0.40125	0.561000	0.74099	GCC		0.607	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		5	18	0	0	0	1	0	5	18				
NPAS3	64067	broad.mit.edu	37	14	34268983	34268983	+	Silent	SNP	C	C	T	rs374909389		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34268983C>T	ENST00000356141.4	+	12	1470	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	NPAS3_ENST00000357798.5_Silent_p.S477S|NPAS3_ENST00000548645.1_Silent_p.S460S|NPAS3_ENST00000346562.2_Silent_p.S458S|NPAS3_ENST00000551492.1_Silent_p.S495S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	490					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGAACCAGTCCGAGAACAGCG	0.637																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1372-1374)tcC>tcT		neuronal PAS domain protein 3		C	,,,	0,4374		0,0,2187	31.0	29.0	29.0		1470,1380,1374,1431	-10.6	0.3	14		29	1,8581		0,1,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,1,6477	TT,TC,CC		0.0117,0.0,0.0077	,,,	490/934,460/904,458/902,477/921	34268983	1,12955	2187	4291	6478	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34268983C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1470C>T	14.37:g.34268983C>T						NPAS3_ENST00000356141.4_Silent_p.S490S|NPAS3_ENST00000551492.1_Silent_p.S495S|NPAS3_ENST00000548645.1_Silent_p.S460S|NPAS3_ENST00000357798.5_Silent_p.S477S	p.S458S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1448	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		490					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1374C>T	CCDS53891.1																																																																																				0.637	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			2	1	0	0	0	1	0	2	1				
TRNAU1AP	54952	broad.mit.edu	37	1	28891266	28891266	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28891266C>T	ENST00000373830.3	+	5	356	c.330C>T	c.(328-330)ggC>ggT	p.G110G	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	110	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TGGATGATGGCATGCTGTATG	0.517																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(328-330)ggC>ggT		tRNA selenocysteine 1 associated protein 1							197.0	180.0	186.0					1																	28891266		2203	4300	6503	SO:0001819	synonymous_variant	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28891266C>T		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.330C>T	1.37:g.28891266C>T						TRNAU1AP_ENST00000495995.1_3'UTR	p.G110G	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN			5	356	+			110			RRM 2.		Q86SU7	Silent	SNP	ENST00000373830.3	37	c.330C>T	CCDS324.1																																																																																				0.517	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		45	63	0	0	0	1	0	45	63				
ELN	2006	broad.mit.edu	37	7	73474488	73474488	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73474488C>T	ENST00000252034.7	+	24	1994	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	ELN_ENST00000429192.1_Missense_Mutation_p.A518V|ELN_ENST00000458204.1_Missense_Mutation_p.A522V|ELN_ENST00000414324.1_Missense_Mutation_p.A508V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.A567V|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.A503V|ELN_ENST00000357036.5_Missense_Mutation_p.A537V|ELN_ENST00000445912.1_Missense_Mutation_p.A532V|ELN_ENST00000380553.4_Missense_Mutation_p.A396V|ELN_ENST00000320399.6_Missense_Mutation_p.A532V|ELN_ENST00000380562.4_Missense_Mutation_p.A538V|ELN_ENST00000380576.5_Missense_Mutation_p.A513V|ELN_ENST00000320492.7_Missense_Mutation_p.A451V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AAATCCGCTGCCAAGGTGGCT	0.627			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1594-1596)gCc>gTc		elastin	Rofecoxib(DB00533)						79.0	86.0	83.0					7																	73474488		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474488C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1595C>T	7.37:g.73474488C>T	ENSP00000252034:p.Ala532Val					CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000458204.1_Missense_Mutation_p.A522V|ELN_ENST00000380562.4_Missense_Mutation_p.A538V|ELN_ENST00000380553.4_Missense_Mutation_p.A396V|ELN_ENST00000320492.7_Missense_Mutation_p.A451V|ELN_ENST00000380576.5_Missense_Mutation_p.A513V|ELN_ENST00000414324.1_Missense_Mutation_p.A508V|ELN_ENST00000429192.1_Missense_Mutation_p.A518V|ELN_ENST00000358929.4_Missense_Mutation_p.A567V|ELN_ENST00000357036.5_Missense_Mutation_p.A537V|ELN_ENST00000320399.6_Missense_Mutation_p.A532V|ELN_ENST00000445912.1_Missense_Mutation_p.A532V|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.A503V	p.A532V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			24	1994	+		Lung NSC(55;0.159)	561			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1595C>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250350	0.59212	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.17;1.14;1.3;1.28;1.16;1.22;1.37;1.14;1.11;1.19;1.2;1.16;1.16	4.41	3.52	0.40303	.	.	.	.	.	T	0.29652	0.0740	.	.	.	0.25279	N	0.989458	B;B;B;B;B;B;B;B;P;P;B;B	0.35745	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.518;0.518;0.27;0.27	B;B;B;B;B;B;B;B;B;B;B;B	0.32533	0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147;0.147	T	0.16748	-1.0392	8	0.66056	D	0.02	-13.5405	7.7082	0.28663	0.0:0.8876:0.0:0.1124	.	532;451;508;522;538;503;518;537;513;396;443;532	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	V	532;532;567;451;508;538;503;522;537;518;471;396;513;532	ENSP00000389857:A532V;ENSP00000252034:A532V;ENSP00000351807:A567V;ENSP00000315607:A451V;ENSP00000392575:A508V;ENSP00000369936:A538V;ENSP00000369949:A503V;ENSP00000403162:A522V;ENSP00000349540:A537V;ENSP00000391129:A518V;ENSP00000369926:A396V;ENSP00000369950:A513V;ENSP00000313565:A532V	ENSP00000252034:A532V	A	+	2	0	ELN	73112424	0.397000	0.25270	0.760000	0.31359	0.293000	0.27360	1.368000	0.34216	2.474000	0.83562	0.644000	0.83932	GCC		0.627	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		26	31	0	0	0	1	0	26	31				
NDUFAF6	137682	broad.mit.edu	37	8	96047721	96047721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:96047721C>T	ENST00000396124.4	+	3	360	c.337C>T	c.(337-339)Cga>Tga	p.R113*	NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.R61*|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.R21*|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.R21*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	113					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGGACTGATGCGAATGCAGTT	0.343																																						ENST00000396113.1																			0											c.(61-63)Cga>Tga		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							63.0	63.0	63.0					8																	96047721		1829	4077	5906	SO:0001587	stop_gained	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96047721C>T	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.337C>T	8.37:g.96047721C>T	ENSP00000379430:p.Arg113*					NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.R21*|NDUFAF6_ENST00000396124.4_Nonsense_Mutation_p.R113*|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.R61*	p.R21*			Q330K2	CH038_HUMAN			9	1111	+			113					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.61C>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694066	0.88735	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000519804	.	.	.	5.5	3.7	0.42460	.	0.128567	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1291	8.2905	0.31954	0.2756:0.6498:0.0:0.0746	.	.	.	.	X	21;21;21;2;61;113;2	.	ENSP00000379417:R21X	R	+	1	2	C8orf38	96116897	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.007000	0.40883	0.693000	0.31634	0.591000	0.81541	CGA		0.343	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		23	43	0	0	0	1	0	23	43				
HECTD1	25831	broad.mit.edu	37	14	31614086	31614086	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31614086C>T	ENST00000399332.1	-	16	3046	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R853H|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	853					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACTACTCCACGAGGCATGCT	0.353																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2557-2559)cGt>cAt		HECT domain containing E3 ubiquitin protein ligase 1							88.0	83.0	85.0					14																	31614086		1876	4110	5986	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614086C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2558G>A	14.37:g.31614086C>T	ENSP00000382269:p.Arg853His					HECTD1_ENST00000553700.1_Missense_Mutation_p.R853H	p.R853H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	16	3046	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		853					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2558G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125990	0.94429	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.81415	0.27;0.27;0.7;-1.49	5.54	4.65	0.58169	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	D	0.88969	0.6582	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.964	D;B	0.78314	0.991;0.198	D	0.89685	0.3893	10	0.54805	T	0.06	-8.2723	15.7983	0.78428	0.1372:0.8628:0.0:0.0	.	853;853	D3DS86;Q9ULT8	.;HECD1_HUMAN	H	853;853;853;327;853	ENSP00000450697:R853H;ENSP00000382269:R853H;ENSP00000451860:R327H;ENSP00000452015:R853H	ENSP00000261312:R853H	R	-	2	0	HECTD1	30683837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.800000	0.85949	1.324000	0.45282	0.650000	0.86243	CGT		0.353	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			17	26	0	0	0	1	0	17	26				
KAT2B	8850	broad.mit.edu	37	3	20142838	20142838	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:20142838A>G	ENST00000263754.4	+	5	1184	c.729A>G	c.(727-729)acA>acG	p.T243T		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	243					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAAGGCAAACAATAGTTGAGT	0.413																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(727-729)acA>acG		K(lysine) acetyltransferase 2B							109.0	95.0	100.0					3																	20142838		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20142838A>G	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.729A>G	3.37:g.20142838A>G							p.T243T	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			5	1184	+			243					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.729A>G	CCDS2634.1																																																																																				0.413	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		32	57	0	0	0	1	0	32	57				
LTBP3	4054	broad.mit.edu	37	11	65315230	65315230	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65315230C>T	ENST00000301873.5	-	13	2177	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S	LTBP3_ENST00000322147.4_Missense_Mutation_p.G637S|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.G67S|LTBP3_ENST00000536982.1_Missense_Mutation_p.G263S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	637	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGTAGGAGCCGCCGGTGTTC	0.677																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1909-1911)Ggc>Agc		latent transforming growth factor beta binding protein 3							12.0	15.0	14.0					11																	65315230		2197	4292	6489	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65315230C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1909G>A	11.37:g.65315230C>T	ENSP00000301873:p.Gly637Ser					LTBP3_ENST00000322147.4_Missense_Mutation_p.G637S|LTBP3_ENST00000536982.1_Missense_Mutation_p.G263S|LTBP3_ENST00000532932.1_Missense_Mutation_p.G67S	p.G637S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			13	2177	-			637			Cys-rich.|EGF-like 4; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1909G>A	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.537721|4.537721	0.85917|0.85917	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.99552|.	-6.15;-6.15;-6.15;-6.15;-6.15|.	4.39|4.39	4.39|4.39	0.52855|0.52855	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73583|0.73583	0.3605|0.3605	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;0.999;1.0;0.998|.	T|T	0.74819|0.74819	-0.3535|-0.3535	10|5	0.72032|.	D|.	0.01|.	.|.	14.4732|14.4732	0.67531|0.67531	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	548;263;520;637;637;67|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	S|Q	637;637;67;263;548|287	ENSP00000326647:G637S;ENSP00000301873:G637S;ENSP00000435530:G67S;ENSP00000441912:G263S;ENSP00000435276:G548S|.	ENSP00000301873:G637S|.	G|R	-|-	1|2	0|0	LTBP3|LTBP3	65071806|65071806	1.000000|1.000000	0.71417|0.71417	0.847000|0.847000	0.33407|0.33407	0.418000|0.418000	0.31294|0.31294	7.113000|7.113000	0.77095|0.77095	2.272000|2.272000	0.75746|0.75746	0.313000|0.313000	0.20887|0.20887	GGC|CGG		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		9	5	0	0	0	1	0	9	5				
KDM4B	23030	broad.mit.edu	37	19	5111404	5111404	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5111404G>A	ENST00000159111.4	+	10	1333				KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000381759.4_Silent_p.S378S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGCGTATCGCCGCACAGAC	0.627																																						ENST00000381759.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1132-1134)tcG>tcA		lysine (K)-specific demethylase 4B							82.0	81.0	81.0					19																	5111404		876	1991	2867	SO:0001627	intron_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5111404G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1115+575G>A	19.37:g.5111404G>A						KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000159111.4_Intron	p.S378S			O94953	KDM4B_HUMAN			11	1341	+			384					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.1134G>A	CCDS12138.1																																																																																				0.627	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		6	41	0	0	0	1	0	6	41				
HLX	3142	broad.mit.edu	37	1	221057870	221057870	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:221057870G>A	ENST00000366903.6	+	4	2792	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	HLX_ENST00000549319.1_Missense_Mutation_p.G217S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	431	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cggcggcggcggcaatagttt	0.637																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1291-1293)Ggc>Agc		H2.0-like homeobox							19.0	19.0	19.0					1																	221057870		2201	4299	6500	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057870G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1291G>A	1.37:g.221057870G>A	ENSP00000355870:p.Gly431Ser					HLX_ENST00000549319.1_Missense_Mutation_p.G217S	p.G431S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2792	+			431			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1291G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655481	0.29425	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91464	-2.59;-2.85	3.72	-1.62	0.08372	.	0.370118	0.19920	N	0.103108	T	0.74450	0.3718	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.60722	-0.7207	10	0.07990	T	0.79	-14.9161	5.136	0.14935	0.2965:0.2399:0.4636:0.0	.	431	Q14774	HLX_HUMAN	S	431;217	ENSP00000355870:G431S;ENSP00000449882:G217S	ENSP00000355870:G431S	G	+	1	0	HLX	219124493	0.007000	0.16637	0.002000	0.10522	0.008000	0.06430	0.301000	0.19174	-0.199000	0.10317	-0.350000	0.07774	GGC		0.637	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		8	8	0	0	0	1	0	8	8				
PRKDC	5591	broad.mit.edu	37	8	48761940	48761940	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48761940C>A	ENST00000314191.2	-	54	7183	c.7127G>T	c.(7126-7128)aGg>aTg	p.R2376M	PRKDC_ENST00000338368.3_Splice_Site_p.R2376M|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2377					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCCCATACCTGTCTGCAAG	0.517								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.e54+1	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							177.0	171.0	173.0					8																	48761940		1919	4128	6047	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761940C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7127+1G>T	8.37:g.48761940C>A						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.R2376_splice	p.R2376_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			54	7183	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2377					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000314191.2	37	c.7127_splice		.	.	.	.	.	.	.	.	.	.	C	25.0	4.593071	0.86953	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.54071	0.59;0.59	5.12	5.12	0.69794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.79805	2.47	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62813	0.907;0.907	T	0.74659	-0.3591	9	.	.	.	.	17.9172	0.88955	0.0:1.0:0.0:0.0	.	2376;2377	E7EUY0;P78527	.;PRKDC_HUMAN	M	2376	ENSP00000313420:R2376M;ENSP00000345182:R2376M	.	R	-	2	0	PRKDC	48924493	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.391000	0.66266	2.539000	0.85634	0.655000	0.94253	AGG		0.517	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Missense_Mutation	34	54	1	0	4.4194e-11	1	4.74656e-11	34	54				
PCDHA5	56143	broad.mit.edu	37	5	140202728	140202728	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140202728G>T	ENST00000529859.1	+	1	1368	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q456H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q456H|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCGCGCAGCCCCAGTATA	0.672																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1366-1368)caG>caT									71.0	73.0	73.0					5																	140202728		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202728G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1368G>T	5.37:g.140202728G>T	ENSP00000436557:p.Gln456His					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q456H|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q456H|PCDHA2_ENST00000526136.1_Intron	p.Q456H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1368	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1368G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249275	0.22880	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.62105	0.05;0.05;0.05	3.86	2.02	0.26589	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.64216	0.2578	M	0.67953	2.075	0.09310	N	0.999994	P;P;P	0.45348	0.775;0.856;0.856	P;B;B	0.49683	0.619;0.412;0.412	T	0.52983	-0.8502	9	0.44086	T	0.13	.	5.8419	0.18639	0.1751:0.1584:0.6665:0.0	.	456;456;456	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	456	ENSP00000433416:Q456H;ENSP00000436557:Q456H;ENSP00000367366:Q456H	ENSP00000367366:Q456H	Q	+	3	2	PCDHA5	140182912	0.000000	0.05858	0.991000	0.47740	0.348000	0.29142	-0.056000	0.11787	0.231000	0.21079	0.461000	0.40582	CAG		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		27	33	1	0	2.70662e-09	1	2.87175e-09	27	33				
MACF1	23499	broad.mit.edu	37	1	39847733	39847733	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39847733C>T	ENST00000372915.3	+	55	13859	c.13772C>T	c.(13771-13773)cCg>cTg	p.P4591L	MACF1_ENST00000289893.4_Missense_Mutation_p.P3026L|MACF1_ENST00000545844.1_Missense_Mutation_p.P2524L|MACF1_ENST00000539005.1_Missense_Mutation_p.P2503L|MACF1_ENST00000567887.1_Missense_Mutation_p.P4623L|MACF1_ENST00000361689.2_Missense_Mutation_p.P2524L|MACF1_ENST00000317713.7_Missense_Mutation_p.P2524L|MACF1_ENST00000564288.1_Missense_Mutation_p.P4586L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4591					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCTCCGGCCGTGGCTGATG	0.552																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(13756-13758)cCg>cTg		microtubule-actin crosslinking factor 1							57.0	60.0	59.0					1																	39847733		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39847733C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13772C>T	1.37:g.39847733C>T	ENSP00000362006:p.Pro4591Leu					MACF1_ENST00000567887.1_Missense_Mutation_p.P4623L|MACF1_ENST00000539005.1_Missense_Mutation_p.P2503L|MACF1_ENST00000372915.3_Missense_Mutation_p.P4591L|MACF1_ENST00000361689.2_Missense_Mutation_p.P2524L|MACF1_ENST00000317713.7_Missense_Mutation_p.P2524L|MACF1_ENST00000289893.4_Missense_Mutation_p.P3026L|MACF1_ENST00000545844.1_Missense_Mutation_p.P2524L	p.P4586L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	14534	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4591					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13757C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.410985	0.83340	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000021	T	0.54727	0.1876	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.993	D;D;P	0.91635	0.999;0.922;0.707	T	0.39251	-0.9623	10	0.37606	T	0.19	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	4591;2524;2468	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	L	2524;4591;2524;2524;2503;3026	ENSP00000439537:P2524L;ENSP00000362006:P4591L;ENSP00000354573:P2524L;ENSP00000313438:P2524L;ENSP00000444364:P2503L;ENSP00000289893:P3026L	ENSP00000289893:P3026L	P	+	2	0	MACF1	39620320	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	3.794000	0.55492	2.821000	0.97095	0.650000	0.86243	CCG		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	23	0	0	0	1	0	21	23				
IKZF1	10320	broad.mit.edu	37	7	50467923	50467923	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:50467923C>T	ENST00000331340.3	+	8	1313	c.1158C>T	c.(1156-1158)cgC>cgT	p.R386R	IKZF1_ENST00000438033.1_Silent_p.R299R|IKZF1_ENST00000343574.5_Silent_p.R299R|IKZF1_ENST00000349824.4_Silent_p.R243R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.R156R|IKZF1_ENST00000359197.5_Silent_p.R344R|IKZF1_ENST00000439701.1_Silent_p.R344R|IKZF1_ENST00000357364.4_Silent_p.R299R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	386					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCTCGGAGCGCGAGGCGTCCC	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1156-1158)cgC>cgT		IKAROS family zinc finger 1 (Ikaros)							18.0	23.0	21.0					7																	50467923		2105	4213	6318	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467923C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1158C>T	7.37:g.50467923C>T						IKZF1_ENST00000349824.4_Silent_p.R243R|IKZF1_ENST00000359197.5_Silent_p.R344R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.R299R|IKZF1_ENST00000343574.5_Silent_p.R299R|IKZF1_ENST00000346667.4_Silent_p.R156R|IKZF1_ENST00000439701.1_Silent_p.R344R|IKZF1_ENST00000438033.1_Silent_p.R299R	p.R386R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1313	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	386					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1158C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		4	4	0	0	0	1	0	4	4				
MYO18B	84700	broad.mit.edu	37	22	26164705	26164705	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26164705C>T	ENST00000407587.2	+	4	991	c.822C>T	c.(820-822)ggC>ggT	p.G274G	MYO18B_ENST00000536101.1_Silent_p.G274G|MYO18B_ENST00000335473.7_Silent_p.G274G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	274						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGGCCCGGCGAGGGGGTGC	0.632																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(820-822)ggC>ggT		myosin XVIIIB																																				SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164705C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.822C>T	22.37:g.26164705C>T						MYO18B_ENST00000407587.2_Silent_p.G274G|MYO18B_ENST00000536101.1_Silent_p.G274G	p.G274G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1072	+			274					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.822C>T																																																																																					0.632	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	7	0	0	0	1	0	3	7				
OR8J1	219477	broad.mit.edu	37	11	56128085	56128085	+	Silent	SNP	C	C	T	rs549456769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:56128085C>T	ENST00000303039.3	+	1	395	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCCTATGACCGCTATGTGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18058	0.0		0.0	False		,,,				2504	0.001					ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(361-363)gaC>gaT		olfactory receptor, family 8, subfamily J, member 1							153.0	140.0	145.0					11																	56128085		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128085C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.363C>T	11.37:g.56128085C>T							p.D121D	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	395	+	Esophageal squamous(21;0.00448)		121					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.363C>T	CCDS31529.1																																																																																				0.488	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		7	100	0	0	0	1	0	7	100				
DPYD	1806	broad.mit.edu	37	1	97544634	97544634	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:97544634A>G	ENST00000370192.3	-	23	3076	c.2976T>C	c.(2974-2976)tgT>tgC	p.C992C		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	992	4Fe-4S ferredoxin-type 3. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AAACACTGAGACACAGAGTAC	0.463																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2974-2976)tgT>tgC		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						219.0	206.0	211.0					1																	97544634		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97544634A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2976T>C	1.37:g.97544634A>G							p.C992C	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	23	3076	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	992			4Fe-4S ferredoxin-type 3.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2976T>C	CCDS30777.1																																																																																				0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	102	0	0	0	1	0	5	102				
PCLO	27445	broad.mit.edu	37	7	82764162	82764162	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82764162A>G	ENST00000333891.9	-	3	3041	c.2704T>C	c.(2704-2706)Tca>Cca	p.S902P	PCLO_ENST00000423517.2_Missense_Mutation_p.S902P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACGCCTTGACTGCTCCTGA	0.547																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2704-2706)Tca>Cca		piccolo presynaptic cytomatrix protein							158.0	156.0	157.0					7																	82764162		1967	4158	6125	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764162A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2704T>C	7.37:g.82764162A>G	ENSP00000334319:p.Ser902Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S902P	p.S902P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3041	-			848			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2704T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438432	0.25900	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.97	2.11	0.27256	.	.	.	.	.	T	0.15392	0.0371	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.004;0.007	T	0.14643	-1.0465	9	0.87932	D	0	.	2.0508	0.03571	0.5942:0.1372:0.1376:0.131	.	902;902	Q9Y6V0-5;Q9Y6V0-6	.;.	P	848;902;902	ENSP00000334319:S902P;ENSP00000388393:S902P	ENSP00000334319:S902P	S	-	1	0	PCLO	82602098	0.004000	0.15560	0.985000	0.45067	0.975000	0.68041	0.115000	0.15540	0.500000	0.27991	0.533000	0.62120	TCA		0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		41	81	0	0	0	1	0	41	81				
HABP4	22927	broad.mit.edu	37	9	99227684	99227684	+	Missense_Mutation	SNP	G	G	A	rs200260228		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99227684G>A	ENST00000375249.4	+	3	653	c.578G>A	c.(577-579)cGc>cAc	p.R193H	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GGGGGTATGCGCGGCAGAGGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		16561	0.001		0.0	False		,,,				2504	0.0					ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)cGc>cAc		hyaluronan binding protein 4							102.0	115.0	110.0					9																	99227684		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227684G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.578G>A	9.37:g.99227684G>A	ENSP00000364398:p.Arg193His					HABP4_ENST00000375251.3_Intron	p.R193H	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	653	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.578G>A	CCDS6719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.88	3.245902	0.59103	.	.	ENSG00000130956	ENST00000375249	T	0.37235	1.21	4.86	4.86	0.63082	.	0.269438	0.30538	N	0.009418	T	0.40645	0.1125	L	0.43923	1.385	0.39173	D	0.962633	D	0.57571	0.98	P	0.50231	0.635	T	0.34378	-0.9831	10	0.54805	T	0.06	-7.7391	13.9779	0.64284	0.0759:0.0:0.9241:0.0	.	193	Q5JVS0	HABP4_HUMAN	H	193	ENSP00000364398:R193H	ENSP00000364398:R193H	R	+	2	0	HABP4	98267505	1.000000	0.71417	0.354000	0.25760	0.375000	0.29983	3.404000	0.52623	2.686000	0.91538	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		34	59	0	0	0	1	0	34	59				
CLN3	1201	broad.mit.edu	37	16	28498783	28498783	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28498783G>T	ENST00000569430.1	-	8	1273	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	CLN3_ENST00000357076.5_Missense_Mutation_p.L152M|CLN3_ENST00000357857.9_Missense_Mutation_p.L98M|CLN3_ENST00000333496.9_Missense_Mutation_p.L128M|CLN3_ENST00000357806.7_Missense_Mutation_p.P125H|CLN3_ENST00000359984.7_Missense_Mutation_p.L152M|CLN3_ENST00000568224.1_Missense_Mutation_p.L74M|CLN3_ENST00000565316.1_Missense_Mutation_p.L152M|CLN3_ENST00000355477.5_Missense_Mutation_p.L152M|CLN3_ENST00000354630.5_Missense_Mutation_p.L152M|CLN3_ENST00000567963.1_Missense_Mutation_p.L152M|CLN3_ENST00000395653.4_Missense_Mutation_p.L52M|CLN3_ENST00000360019.2_Missense_Mutation_p.L152M|CLN3_ENST00000535392.1_Missense_Mutation_p.L74M			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	152					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCACCACACAGGCTGGTCCCC	0.582																																						ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(454-456)Ctg>Atg		ceroid-lipofuscinosis, neuronal 3							97.0	74.0	82.0					16																	28498783		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28498783G>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.454C>A	16.37:g.28498783G>T	ENSP00000454229:p.Leu152Met					CLN3_ENST00000333496.9_Missense_Mutation_p.L128M|CLN3_ENST00000565316.1_Missense_Mutation_p.L152M|CLN3_ENST00000359984.7_Missense_Mutation_p.L152M|CLN3_ENST00000395653.4_Missense_Mutation_p.L52M|CLN3_ENST00000360019.2_Missense_Mutation_p.L152M|CLN3_ENST00000357806.7_Missense_Mutation_p.P125H|CLN3_ENST00000357857.9_Missense_Mutation_p.L98M|CLN3_ENST00000568224.1_Missense_Mutation_p.L74M|CLN3_ENST00000354630.5_Missense_Mutation_p.L152M|CLN3_ENST00000567963.1_Missense_Mutation_p.L152M|CLN3_ENST00000355477.5_Missense_Mutation_p.L152M|CLN3_ENST00000357076.5_Missense_Mutation_p.L152M|CLN3_ENST00000535392.1_Missense_Mutation_p.L74M	p.L152M			Q13286	CLN3_HUMAN			8	1273	-			152					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.454C>A	CCDS10632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.597716|3.597716	0.66332|0.66332	.|.	.|.	ENSG00000188603|ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357076|ENST00000333496;ENST00000357806	D;D;D;D;D;D;D;D|D	0.98075|0.93763	-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7|-3.28	5.53|5.53	4.54|4.54	0.55810|0.55810	Major facilitator superfamily domain, general substrate transporter (1);|.	0.063513|.	0.64402|.	D|.	0.000008|.	D|D	0.91570|0.91570	0.7337|0.7337	L|L	0.54908|0.54908	1.71|1.71	0.45161|0.45161	D|D	0.998173|0.998173	P;D;P;D;P;D;D;D;D|B;B;B	0.65815|0.33345	0.948;0.975;0.949;0.991;0.898;0.962;0.962;0.984;0.995|0.399;0.399;0.409	P;P;P;P;P;P;P;P;D|B;B;B	0.63381|0.39503	0.754;0.677;0.73;0.861;0.815;0.677;0.78;0.793;0.914|0.301;0.301;0.167	D|D	0.90308|0.90308	0.4335|0.4335	10|9	0.36615|0.72032	T|D	0.2|0.01	-8.3958|-8.3958	9.4351|9.4351	0.38635|0.38635	0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0	.|.	52;128;152;152;203;98;52;152;152|71;101;125	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;O95086;B4DMY6;Q13286-2;Q13286|O95093;O95090;O95089	.;.;.;.;.;.;.;.;CLN3_HUMAN|.;.;.	M|H	74;152;152;152;152;98;52;152|101;125	ENSP00000443221:L74M;ENSP00000353073:L152M;ENSP00000353116:L152M;ENSP00000346650:L152M;ENSP00000347660:L152M;ENSP00000350523:L98M;ENSP00000379014:L52M;ENSP00000349586:L152M|ENSP00000350457:P125H	ENSP00000346650:L152M|ENSP00000329171:P101H	L|P	-|-	1|2	2|0	CLN3|CLN3	28406284|28406284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	1.809000|1.809000	0.38922|0.38922	1.242000|1.242000	0.43836|0.43836	-0.354000|-0.354000	0.07668|0.07668	CTG|CCT		0.582	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			8	10	1	0	1.76689e-08	1	1.86465e-08	8	10				
NBPF10	100132406	broad.mit.edu	37	1	145299937	145299937	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145299937A>G	ENST00000369338.1	+	2	363	c.173A>G	c.(172-174)tAc>tGc	p.Y58C	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y329C|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	329						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGAAGAAATACAGTAAGATC	0.423																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(985-987)tAc>tGc		neuroblastoma breakpoint family, member 10							55.0	38.0	43.0					1																	145299937		692	1591	2283	SO:0001583	missense	100132406							g.chr1:145299937A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.173A>G	1.37:g.145299937A>G	ENSP00000358344:p.Tyr58Cys					NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.Y58C	p.Y329C	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	1021	+	all_hematologic(923;0.032)		329					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37	c.986A>G		.	.	.	.	.	.	.	.	.	.	.	3.314	-0.140247	0.06669	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09630	2.96;3.63	0.982	-0.457	0.12186	.	.	.	.	.	T	0.12518	0.0304	M	0.74467	2.265	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.06285	-1.0835	9	0.66056	D	0.02	.	3.6528	0.08210	0.5871:0.4129:0.0:0.0	.	58	Q86T75-2	.	C	254;58;58;329	ENSP00000358344:Y58C;ENSP00000345684:Y329C	ENSP00000345684:Y329C	Y	+	2	0	NBPF10	144011294	0.079000	0.21365	0.002000	0.10522	0.005000	0.04900	0.692000	0.25482	-0.143000	0.11334	0.138000	0.15974	TAC		0.423	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		63	134	0	0	0	1	0	63	134				
ABL1	25	broad.mit.edu	37	9	133760700	133760700	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133760700C>T	ENST00000318560.5	+	11	3404	c.3023C>T	c.(3022-3024)aCc>aTc	p.T1008I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1008	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCATATCAACCCGAGTGTCT	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(3022-3024)aCc>aTc		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						61.0	71.0	67.0					9																	133760700		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760700C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.3023C>T	9.37:g.133760700C>T	ENSP00000323315:p.Thr1008Ile						p.T1008I	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3404	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	1008			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.3023C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633416	0.87660	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.79845	-1.29;-1.31	5.26	5.26	0.73747	F-actin binding (2);	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89120	0.3502	10	0.72032	D	0.01	.	17.8543	0.88758	0.0:1.0:0.0:0.0	.	1008;1045	P00519;Q59FK4	ABL1_HUMAN;.	I	823;1027;1008	ENSP00000361423:T1027I;ENSP00000323315:T1008I	ENSP00000323315:T1008I	T	+	2	0	ABL1	132750521	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	7.755000	0.85180	2.457000	0.83068	0.555000	0.69702	ACC		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		13	31	0	0	0	1	0	13	31				
C7orf26	79034	broad.mit.edu	37	7	6639613	6639613	+	Missense_Mutation	SNP	G	G	A	rs149671282	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6639613G>A	ENST00000344417.5	+	4	1001	c.734G>A	c.(733-735)cGc>cAc	p.R245H	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	245			R -> C (in dbSNP:rs35534502).					p.R245L(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGATTGATCCGCTGGTGCGTG	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18203	0.0		0.0	False		,,,				2504	0.0					ENST00000344417.5																			1	Substitution - Missense(1)	p.R245L(1)	endometrium(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(733-735)cGc>cAc		chromosome 7 open reading frame 26		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	61.0	61.0		734	5.1	1.0	7	dbSNP_134	61	0,8600		0,0,4300	no	missense	C7orf26	NM_024067.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	245/450	6639613	1,13005	2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639613G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.734G>A	7.37:g.6639613G>A	ENSP00000340220:p.Arg245His					C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	p.R245H	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	1001	+		Ovarian(82;0.232)	245		R -> C (in dbSNP:rs35534502).			Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.734G>A	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267305	0.59540	2.27E-4	0.0	ENSG00000146576	ENST00000344417	T	0.50001	0.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64867	-0.6306	10	0.41790	T	0.15	-37.0612	16.7774	0.85555	0.0:0.0:1.0:0.0	.	245	Q96N11	CG026_HUMAN	H	245	ENSP00000340220:R245H	ENSP00000340220:R245H	R	+	2	0	C7orf26	6606138	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.623000	0.83113	2.752000	0.94435	0.555000	0.69702	CGC		0.517	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		7	69	0	0	0	1	0	7	69				
XPO6	23214	broad.mit.edu	37	16	28115914	28115914	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28115914C>T	ENST00000304658.5	-	21	3399	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	XPO6_ENST00000565698.1_Missense_Mutation_p.A953T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	967					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGCTCCTCAGCGATCCCCCTC	0.582																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2899-2901)Gct>Act		exportin 6							72.0	76.0	75.0					16																	28115914		2064	4207	6271	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28115914C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2899G>A	16.37:g.28115914C>T	ENSP00000302790:p.Ala967Thr					XPO6_ENST00000565698.1_Missense_Mutation_p.A953T	p.A967T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			21	3399	-			967					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2899G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	c	1.961	-0.438759	0.04636	.	.	ENSG00000169180	ENST00000304658	T	0.66638	-0.22	6.03	3.06	0.35304	Armadillo-type fold (1);	0.356387	0.31290	N	0.007901	T	0.40196	0.1107	N	0.19112	0.55	0.09310	N	1	B;P	0.36144	0.398;0.539	B;B	0.25614	0.038;0.062	T	0.22243	-1.0222	10	0.14656	T	0.56	-3.5008	7.2489	0.26138	0.1245:0.6687:0.0:0.2067	.	967;967	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	967	ENSP00000302790:A967T	ENSP00000302790:A967T	A	-	1	0	XPO6	28023415	0.059000	0.20769	0.003000	0.11579	0.367000	0.29736	0.560000	0.23500	0.161000	0.19458	-2.366000	0.00237	GCT		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		16	17	0	0	0	1	0	16	17				
IPO7	10527	broad.mit.edu	37	11	9430101	9430101	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9430101T>C	ENST00000379719.3	+	3	377	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	79	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGGGGATATATCCCCTTATAC	0.353																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(235-237)Tcc>Ccc		importin 7							67.0	70.0	69.0					11																	9430101		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9430101T>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.235T>C	11.37:g.9430101T>C	ENSP00000369042:p.Ser79Pro						p.S79P	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	3	377	+			79			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.235T>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307258	0.40795	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.44881	1.82;0.91	5.74	1.96	0.26148	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.301356	0.41938	D	0.000788	T	0.12092	0.0294	N	0.01048	-1.04	0.24712	N	0.993191	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.30078	T	0.28	.	3.5188	0.07735	0.0:0.2072:0.4748:0.318	.	79	O95373	IPO7_HUMAN	P	79;17	ENSP00000369042:S79P;ENSP00000435235:S17P	ENSP00000369042:S79P	S	+	1	0	IPO7	9386677	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	2.589000	0.46145	0.394000	0.25230	0.528000	0.53228	TCC		0.353	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		28	41	0	0	0	1	0	28	41				
ANKFY1	51479	broad.mit.edu	37	17	4145692	4145692	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4145692A>G	ENST00000341657.4	-	2	97	c.62T>C	c.(61-63)gTc>gCc	p.V21A	ANKFY1_ENST00000570535.1_Missense_Mutation_p.V63A|ANKFY1_ENST00000433651.1_Missense_Mutation_p.V21A|ANKFY1_ENST00000574367.1_Missense_Mutation_p.V21A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	21					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGCAGCTTGACATACTCCTG	0.562																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(61-63)gTc>gCc		ankyrin repeat and FYVE domain containing 1							95.0	97.0	96.0					17																	4145692		2022	4188	6210	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4145692A>G	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.62T>C	17.37:g.4145692A>G	ENSP00000343362:p.Val21Ala					ANKFY1_ENST00000574367.1_Missense_Mutation_p.V21A|ANKFY1_ENST00000570535.1_Missense_Mutation_p.V63A|ANKFY1_ENST00000433651.1_Missense_Mutation_p.V21A	p.V21A	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			2	97	-			21					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.62T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	24.3|24.3	4.513673|4.513673	0.85389|0.85389	.|.	.|.	ENSG00000185722|ENSG00000185722	ENST00000535427|ENST00000341657;ENST00000433651	.|T;T	.|0.50813	.|0.94;0.73	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64394|0.64394	0.2594|0.2594	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|D;D;D;D;D	0.54207|0.89917	0.965|0.996;1.0;0.999;0.999;0.999	P|D;D;D;D;D	0.48089|0.74348	0.566|0.923;0.983;0.939;0.972;0.972	T|T	0.65742|0.65742	-0.6094|-0.6094	8|10	0.87932|0.52906	D|T	0|0.07	-24.8657|-24.8657	14.7292|14.7292	0.69368|0.69368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2|21;21;21;21;63	F5H754|B4DZ21;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.|.;.;ANFY1_HUMAN;.;.	P|A	2|21	.|ENSP00000343362:V21A;ENSP00000416005:V21A	ENSP00000442785:S2P|ENSP00000343362:V21A	S|V	-|-	1|2	0|0	ANKFY1|ANKFY1	4092441|4092441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.261000|7.261000	0.78400|0.78400	2.082000|2.082000	0.62665|0.62665	0.451000|0.451000	0.29950|0.29950	TCA|GTC		0.562	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		46	60	0	0	0	1	0	46	60				
SEC24B	10427	broad.mit.edu	37	4	110448484	110448484	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110448484G>A	ENST00000265175.5	+	18	3027	c.2972G>A	c.(2971-2973)cGg>cAg	p.R991Q	SEC24B_ENST00000399100.2_Missense_Mutation_p.R956Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1021Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	991					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTAGGTGAGCGGAGAATTAGA	0.353																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2971-2973)cGg>cAg		SEC24 family member B							122.0	110.0	114.0					4																	110448484		1844	4093	5937	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110448484G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2972G>A	4.37:g.110448484G>A	ENSP00000265175:p.Arg991Gln					SEC24B_ENST00000399100.2_Missense_Mutation_p.R956Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1021Q	p.R991Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	18	3027	+		Hepatocellular(203;0.217)	991					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2972G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459653	0.84317	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.48201	0.82;0.82;0.82	5.54	5.54	0.83059	Sec23/Sec24 beta-sandwich (1);	0.055333	0.64402	D	0.000001	T	0.81856	0.4911	H	0.98111	4.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;0.998	D	0.88194	0.2879	10	0.87932	D	0	-22.3513	19.8696	0.96845	0.0:0.0:1.0:0.0	.	905;590;1021;956;991	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	Q	1021;956;991	ENSP00000428564:R1021Q;ENSP00000382051:R956Q;ENSP00000265175:R991Q	ENSP00000265175:R991Q	R	+	2	0	SEC24B	110667933	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	CGG		0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			45	67	0	0	0	1	0	45	67				
NEK1	4750	broad.mit.edu	37	4	170459007	170459007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:170459007G>A	ENST00000439128.2	-	18	2258	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	NEK1_ENST00000510533.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R471*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R540*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.R496*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCCGTTTTCGCTGCAGGAAC	0.388																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1618-1620)Cga>Tga		NIMA-related kinase 1							292.0	280.0	284.0					4																	170459007		1863	4098	5961	SO:0001587	stop_gained	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170459007G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1618C>T	4.37:g.170459007G>A	ENSP00000408020:p.Arg540*					NEK1_ENST00000511633.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R471*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.R496*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R540*	p.R540*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	18	2258	-		Prostate(90;0.00601)|Renal(120;0.0183)	540					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	ENST00000439128.2	37	c.1618C>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	45	11.428968	0.99560	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.91	5.05	0.67936	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9667	0.79979	0.0:0.0:0.864:0.1359	.	.	.	.	X	540;496;496;540;471	.	ENSP00000408020:R540X	R	-	1	2	NEK1	170695582	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.643000	0.54374	1.453000	0.47775	0.650000	0.86243	CGA		0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			85	124	0	0	0	1	0	85	124				
TSHZ2	128553	broad.mit.edu	37	20	51872787	51872787	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:51872787C>A	ENST00000371497.5	+	2	3677	c.2790C>A	c.(2788-2790)gaC>gaA	p.D930E	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D927E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D927E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	930					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATTGCAGTGACTGTGCCTCCC	0.498																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2788-2790)gaC>gaA		teashirt zinc finger homeobox 2							70.0	71.0	71.0					20																	51872787		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872787C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2790C>A	20.37:g.51872787C>A	ENSP00000360552:p.Asp930Glu					TSHZ2_ENST00000329613.6_Missense_Mutation_p.D927E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D927E|RP4-678D15.1_ENST00000606932.1_RNA	p.D930E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3677	+			930					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2790C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308095	0.81247	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.26223	1.75;1.75	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.28649	0.875	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22871	-1.0204	10	0.54805	T	0.06	-16.8666	19.8272	0.96622	0.0:1.0:0.0:0.0	.	930	Q9NRE2	TSH2_HUMAN	E	930;927;456	ENSP00000360552:D930E;ENSP00000333114:D927E	ENSP00000333114:D927E	D	+	3	2	TSHZ2	51306194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.482000	0.81143	2.685000	0.91497	0.643000	0.83706	GAC		0.498	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		15	22	1	0	6.31663e-08	1	6.64488e-08	15	22				
KIAA0922	23240	broad.mit.edu	37	4	154517484	154517484	+	Silent	SNP	C	C	T	rs143841084		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154517484C>T	ENST00000409663.3	+	20	2119	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	KIAA0922_ENST00000440693.1_Silent_p.G606G|KIAA0922_ENST00000409959.3_Silent_p.G690G	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	689						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAGGGTTGGCGTAGTTTTCA	0.418																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2065-2067)ggC>ggT		KIAA0922							182.0	160.0	168.0					4																	154517484		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154517484C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2067C>T	4.37:g.154517484C>T						KIAA0922_ENST00000440693.1_Silent_p.G606G|KIAA0922_ENST00000409959.3_Silent_p.G690G	p.G689G	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			20	2119	+	all_hematologic(180;0.093)	Renal(120;0.118)	689					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.2067C>T	CCDS3783.2																																																																																				0.418	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		38	53	0	0	0	1	0	38	53				
ITGB3BP	23421	broad.mit.edu	37	1	63912520	63912520	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:63912520A>G	ENST00000271002.10	-	8	573	c.492T>C	c.(490-492)cgT>cgC	p.R164R	ITGB3BP_ENST00000371092.3_Silent_p.R203R|ITGB3BP_ENST00000461681.1_Intron	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	164					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TGTCAAGATGACGTGATGCTA	0.313																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(607-609)cgT>cgC		integrin beta 3 binding protein (beta3-endonexin)							89.0	85.0	86.0					1																	63912520		2203	4297	6500	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63912520A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.492T>C	1.37:g.63912520A>G						ITGB3BP_ENST00000461681.1_Intron|ITGB3BP_ENST00000271002.10_Silent_p.R164R	p.R203R	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN			9	669	-			164					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.609T>C	CCDS30736.1																																																																																				0.313	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		10	20	0	0	0	1	0	10	20				
CADM2	253559	broad.mit.edu	37	3	85851323	85851323	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:85851323C>T	ENST00000407528.2	+	2	250	c.188C>T	c.(187-189)aCt>aTt	p.T63I	CADM2_ENST00000383699.3_Missense_Mutation_p.T72I|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.T65I	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	63	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCTCAACAGACTCTGTACTTT	0.353																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(214-216)aCt>aTt		cell adhesion molecule 2							66.0	57.0	60.0					3																	85851323		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85851323C>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.188C>T	3.37:g.85851323C>T	ENSP00000384575:p.Thr63Ile					CADM2_ENST00000405615.2_Missense_Mutation_p.T65I|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000407528.2_Missense_Mutation_p.T63I	p.T72I	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	842	+		Lung NSC(201;0.0148)	63			Ig-like V-type.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.215C>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557299	0.86231	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.17;-0.17;-0.17	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.72576	2.205	0.80722	D	1	D;B;P	0.57257	0.979;0.289;0.858	D;B;P	0.68483	0.958;0.371;0.784	T	0.77598	-0.2528	10	0.44086	T	0.13	.	19.2384	0.93871	0.0:1.0:0.0:0.0	.	65;72;63	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	I	72;63;65	ENSP00000373200:T72I;ENSP00000384575:T63I;ENSP00000384193:T65I	ENSP00000373200:T72I	T	+	2	0	CADM2	85934013	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.621000	0.88768	0.544000	0.68410	ACT		0.353	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		22	36	0	0	0	1	0	22	36				
TM4SF5	9032	broad.mit.edu	37	17	4675222	4675222	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4675222G>A	ENST00000270560.3	+	1	36	c.5G>A	c.(4-6)tGt>tAt	p.C2Y		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	2						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						CTCACCATGTGTACGGGAAAA	0.572																																						ENST00000270560.3																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(4-6)tGt>tAt		transmembrane 4 L six family member 5							203.0	176.0	185.0					17																	4675222		2203	4300	6503	SO:0001583	missense	9032					integral to plasma membrane		g.chr17:4675222G>A	AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"""transmembrane 4 superfamily member 5"""			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.5G>A	17.37:g.4675222G>A	ENSP00000270560:p.Cys2Tyr						p.C2Y	NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN			1	36	+			2					Q17RW9|Q6IB79	Missense_Mutation	SNP	ENST00000270560.3	37	c.5G>A	CCDS11054.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714450	0.68730	.	.	ENSG00000142484	ENST00000270560	T	0.38401	1.14	5.27	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.87682	2.9	0.51233	D	0.999911	D	0.76494	0.999	D	0.74348	0.983	T	0.68754	-0.5325	10	0.87932	D	0	-16.382	11.6357	0.51202	0.0865:0.0:0.9135:0.0	.	2	O14894	T4S5_HUMAN	Y	2	ENSP00000270560:C2Y	ENSP00000270560:C2Y	C	+	2	0	TM4SF5	4621971	1.000000	0.71417	0.981000	0.43875	0.804000	0.45430	7.952000	0.87827	1.224000	0.43551	0.655000	0.94253	TGT		0.572	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207558.2			6	114	0	0	0	1	0	6	114				
UBR5	51366	broad.mit.edu	37	8	103317441	103317441	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:103317441A>G	ENST00000520539.1	-	21	3305	c.2699T>C	c.(2698-2700)gTt>gCt	p.V900A	UBR5_ENST00000220959.4_Missense_Mutation_p.V900A|UBR5_ENST00000521922.1_Missense_Mutation_p.V894A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	900					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGCTCTAAAACAACCGCTTG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2698-2700)gTt>gCt		ubiquitin protein ligase E3 component n-recognin 5							164.0	161.0	162.0					8																	103317441		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317441A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2699T>C	8.37:g.103317441A>G	ENSP00000429084:p.Val900Ala					UBR5_ENST00000220959.4_Missense_Mutation_p.V900A|UBR5_ENST00000521922.1_Missense_Mutation_p.V894A	p.V900A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3305	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		900					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2699T>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.608656	0.28623	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.41758	0.99;0.99;0.99	5.03	5.03	0.67393	.	0.257250	0.32372	N	0.006189	T	0.22589	0.0545	N	0.08118	0	0.47308	D	0.999385	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.08617	-1.0713	10	0.08837	T	0.75	.	14.7702	0.69671	1.0:0.0:0.0:0.0	.	894;900	E7EMW7;O95071	.;UBR5_HUMAN	A	900;900;894	ENSP00000429084:V900A;ENSP00000220959:V900A;ENSP00000427819:V894A	ENSP00000220959:V900A	V	-	2	0	UBR5	103386617	1.000000	0.71417	0.883000	0.34634	0.983000	0.72400	9.265000	0.95647	1.901000	0.55032	0.254000	0.18369	GTT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		52	84	0	0	0	1	0	52	84				
WISP1	8840	broad.mit.edu	37	8	134203379	134203379	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:134203379C>T	ENST00000250160.6	+	0	98				WISP1_ENST00000377863.2_Missense_Mutation_p.T6M|WISP1_ENST00000517423.1_5'UTR|WISP1_ENST00000519433.1_5'UTR|WISP1_ENST00000220856.6_5'Flank	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTGCCACTGACGTCCAGGCAT	0.682																																						ENST00000377863.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(16-18)aCg>aTg		WNT1 inducible signaling pathway protein 1							22.0	19.0	20.0					8																	134203379		2199	4290	6489	SO:0001623	5_prime_UTR_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134203379C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.-9C>T	8.37:g.134203379C>T						WISP1_ENST00000519433.1_5'UTR|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_5'UTR|WISP1_ENST00000250160.6_5'UTR	p.T6M			O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		1	53	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		0					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.17C>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956843	0.18507	.	.	ENSG00000104415	ENST00000377863	T	0.81247	-1.47	5.06	4.16	0.48862	.	.	.	.	.	T	0.79446	0.4447	.	.	.	0.09310	N	1	D	0.57257	0.979	P	0.44477	0.451	T	0.71497	-0.4575	8	0.62326	D	0.03	.	14.7374	0.69424	0.0:0.8543:0.1457:0.0	.	6	Q5JBS7	.	M	6	ENSP00000367094:T6M	ENSP00000367094:T6M	T	+	2	0	WISP1	134272561	0.799000	0.28903	0.004000	0.12327	0.188000	0.23474	1.305000	0.33493	1.205000	0.43262	0.655000	0.94253	ACG		0.682	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		12	8	0	0	0	1	0	12	8				
ACACB	32	broad.mit.edu	37	12	109625870	109625870	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109625870T>C	ENST00000338432.7	+	13	2166	c.2047T>C	c.(2047-2049)Tac>Cac	p.Y683H	ACACB_ENST00000377854.5_Missense_Mutation_p.Y683H|ACACB_ENST00000377848.3_Missense_Mutation_p.Y683H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	683	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGTGTGGGGTTACTTCAGCGT	0.552																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2047-2049)Tac>Cac		acetyl-CoA carboxylase beta	Biotin(DB00121)						124.0	118.0	120.0					12																	109625870		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109625870T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2047T>C	12.37:g.109625870T>C	ENSP00000341044:p.Tyr683His					ACACB_ENST00000377848.3_Missense_Mutation_p.Y683H|ACACB_ENST00000377854.5_Missense_Mutation_p.Y683H	p.Y683H			O00763	ACACB_HUMAN			13	2166	+			683			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2047T>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	t	25.5	4.648388	0.87958	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.81247	-1.47;-1.47;-1.47	5.27	5.27	0.74061	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.058087	0.64402	D	0.000001	D	0.84088	0.5395	M	0.75264	2.295	0.80722	D	1	B	0.30664	0.289	B	0.40477	0.33	D	0.85052	0.0929	10	0.87932	D	0	.	14.9629	0.71169	0.0:0.0:0.0:1.0	.	683	O00763	ACACB_HUMAN	H	683	ENSP00000341044:Y683H;ENSP00000367079:Y683H;ENSP00000367085:Y683H	ENSP00000341044:Y683H	Y	+	1	0	ACACB	108110253	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.969000	0.87988	2.030000	0.59900	0.434000	0.28630	TAC		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		21	34	0	0	0	1	0	21	34				
PLGRKT	55848	broad.mit.edu	37	9	5361129	5361129	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5361129G>T	ENST00000223864.2	-	5	492	c.271C>A	c.(271-273)Ctc>Atc	p.L91I	PLGRKT_ENST00000482696.1_5'Flank	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	91					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											TGGTAGGTGAGGATAAAGCTT	0.348																																						ENST00000223864.2																			0											c.(271-273)Ctc>Atc		plasminogen receptor, C-terminal lysine transmembrane protein							116.0	114.0	114.0					9																	5361129		2203	4300	6503	SO:0001583	missense	55848					integral to membrane		g.chr9:5361129G>T	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.271C>A	9.37:g.5361129G>T	ENSP00000223864:p.Leu91Ile						p.L91I	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN			5	492	-			91					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.271C>A	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834003	0.32421	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	-4.27	0.03744	.	0.560922	0.19618	N	0.109972	T	0.46502	0.1396	M	0.77103	2.36	0.09310	N	1	B	0.27910	0.193	B	0.34536	0.185	T	0.49437	-0.8940	9	0.51188	T	0.08	.	11.1362	0.48375	0.7059:0.1033:0.1908:0.0	.	91	Q9HBL7	CI046_HUMAN	I	91	.	ENSP00000223864:L91I	L	-	1	0	C9orf46	5351129	0.000000	0.05858	0.001000	0.08648	0.798000	0.45092	-0.518000	0.06267	-0.985000	0.03503	-0.781000	0.03364	CTC		0.348	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		10	42	1	0	1.58986e-06	1	1.65464e-06	10	42				
ESYT3	83850	broad.mit.edu	37	3	138178803	138178803	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138178803G>A	ENST00000389567.4	+	6	851	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ESYT3_ENST00000289135.4_Missense_Mutation_p.R222Q	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	222	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGCACCCTGCGGGTCATCCTG	0.632																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(664-666)cGg>cAg		extended synaptotagmin-like protein 3							60.0	62.0	61.0					3																	138178803		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138178803G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.665G>A	3.37:g.138178803G>A	ENSP00000374218:p.Arg222Gln					ESYT3_ENST00000289135.4_Missense_Mutation_p.R222Q	p.R222Q	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			6	851	+			222					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.665G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	34	5.304286	0.95601	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	D;D	0.82081	-1.57;-1.57	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.86805	2.84	0.50632	D	0.999889	D	0.53151	0.958	B	0.38428	0.273	D	0.88591	0.3143	10	0.87932	D	0	-14.9075	16.3005	0.82807	0.0:0.0:1.0:0.0	.	222	A0FGR9	ESYT3_HUMAN	Q	222	ENSP00000374218:R222Q;ENSP00000289135:R222Q	ENSP00000289135:R222Q	R	+	2	0	ESYT3	139661493	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	8.488000	0.90458	2.435000	0.82474	0.542000	0.68232	CGG		0.632	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		3	38	0	0	0	1	0	3	38				
BCL11B	64919	broad.mit.edu	37	14	99697813	99697813	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:99697813G>A	ENST00000357195.3	-	3	518	c.509C>T	c.(508-510)cCt>cTt	p.P170L	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	170					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGCACGCAGAGGTGAAGTGAT	0.682			T	TLX3	T-ALL																																	ENST00000357195.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(508-510)cCt>cTt		B-cell CLL/lymphoma 11B (zinc finger protein)							28.0	33.0	32.0					14																	99697813		2192	4298	6490	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697813G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.509C>T	14.37:g.99697813G>A	ENSP00000349723:p.Pro170Leu					BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	p.P170L	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	518	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	170					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.509C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211051	0.58343	.	.	ENSG00000127152	ENST00000357195	T	0.70631	-0.5	5.42	5.42	0.78866	.	0.370207	0.21437	U	0.074543	T	0.79021	0.4376	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.78563	-0.2156	10	0.48119	T	0.1	-2.2768	17.4191	0.87510	0.0:0.0:1.0:0.0	.	170	Q9C0K0	BC11B_HUMAN	L	170	ENSP00000349723:P170L	ENSP00000349723:P170L	P	-	2	0	BCL11B	98767566	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.868000	0.69605	2.543000	0.85770	0.650000	0.86243	CCT		0.682	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	4	0	0	0	1	0	3	4				
CFH	3075	broad.mit.edu	37	1	196682946	196682946	+	Missense_Mutation	SNP	C	C	T	rs371053403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196682946C>T	ENST00000367429.4	+	10	1658	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	473	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAAGAAAAAGCGAAATATCAA	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16070	0.0		0.0	False		,,,				2504	0.0					ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1417-1419)gCg>gTg		complement factor H		C	VAL/ALA	0,4406		0,0,2203	85.0	81.0	82.0		1418	4.3	0.0	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CFH	NM_000186.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	473/1232	196682946	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196682946C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1418C>T	1.37:g.196682946C>T	ENSP00000356399:p.Ala473Val						p.A473V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			10	1658	+			473			Sushi 8.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1418C>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	7.864	0.726636	0.15439	0.0	1.16E-4	ENSG00000000971	ENST00000367429	T	0.58652	0.32	5.23	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.31136	0.0787	N	0.04820	-0.15	0.22996	N	0.998451	B	0.26512	0.151	B	0.27076	0.076	T	0.21075	-1.0256	9	0.02654	T	1	.	9.7906	0.40704	0.0:0.9041:0.0:0.0959	.	473	P08603	CFAH_HUMAN	V	473	ENSP00000356399:A473V	ENSP00000356399:A473V	A	+	2	0	CFH	194949569	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	1.348000	0.33987	1.203000	0.43233	0.591000	0.81541	GCG		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	23	0	0	0	1	0	11	23				
HDAC4	9759	broad.mit.edu	37	2	240003880	240003880	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240003880T>C	ENST00000345617.3	-	21	3346	c.2555A>G	c.(2554-2556)tAc>tGc	p.Y852C	HDAC4_ENST00000543185.1_Missense_Mutation_p.Y436C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	852	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGTCGCTGTAGAAAGCCTG	0.587																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2554-2556)tAc>tGc		histone deacetylase 4							171.0	154.0	160.0					2																	240003880		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240003880T>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2555A>G	2.37:g.240003880T>C	ENSP00000264606:p.Tyr852Cys					HDAC4_ENST00000543185.1_Missense_Mutation_p.Y436C	p.Y852C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	21	3346	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	852			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2555A>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.956659	0.73902	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.71934	-0.61;-0.61	3.94	3.94	0.45596	Histone deacetylase domain (2);	0.000000	0.85682	U	0.000000	D	0.90235	0.6947	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93556	0.6891	10	0.87932	D	0	.	13.1341	0.59399	0.0:0.0:0.0:1.0	.	820;852	Q53SM2;P56524	.;HDAC4_HUMAN	C	852;740;436	ENSP00000264606:Y852C;ENSP00000440481:Y436C	ENSP00000264606:Y852C	Y	-	2	0	HDAC4	239668817	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.595000	0.82710	1.584000	0.49913	0.373000	0.22412	TAC		0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		30	36	0	0	0	1	0	30	36				
TLN2	83660	broad.mit.edu	37	15	62994217	62994217	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:62994217G>A	ENST00000561311.1	+	17	1953	c.1723G>A	c.(1723-1725)Gct>Act	p.A575T	TLN2_ENST00000306829.6_Missense_Mutation_p.A575T			Q9Y4G6	TLN2_HUMAN	talin 2	575					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGACTACACAGCTGTGGGATG	0.532																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1723-1725)Gct>Act		talin 2							101.0	80.0	87.0					15																	62994217		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62994217G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1723G>A	15.37:g.62994217G>A	ENSP00000453508:p.Ala575Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A575T	p.A575T			Q9Y4G6	TLN2_HUMAN			17	1953	+			575					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1723G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378636	0.95945	.	.	ENSG00000171914	ENST00000306829	T	0.69806	-0.43	5.1	5.1	0.69264	Talin, central (3);	0.045379	0.85682	D	0.000000	T	0.71953	0.3401	M	0.69823	2.125	0.80722	D	1	B	0.30104	0.268	B	0.36922	0.236	T	0.73487	-0.3967	10	0.59425	D	0.04	-7.7135	18.8833	0.92365	0.0:0.0:1.0:0.0	.	575	Q9Y4G6	TLN2_HUMAN	T	575	ENSP00000303476:A575T	ENSP00000303476:A575T	A	+	1	0	TLN2	60781509	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	9.813000	0.99286	2.532000	0.85374	0.561000	0.74099	GCT		0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			21	89	0	0	0	1	0	21	89				
TNIP1	10318	broad.mit.edu	37	5	150439883	150439883	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150439883G>A	ENST00000389378.2	-	5	1019	c.431C>T	c.(430-432)gCg>gTg	p.A144V	TNIP1_ENST00000523338.1_Missense_Mutation_p.A144V|TNIP1_ENST00000521591.1_Missense_Mutation_p.A144V|TNIP1_ENST00000524280.1_Missense_Mutation_p.A144V|TNIP1_ENST00000520931.1_Missense_Mutation_p.A91V|TNIP1_ENST00000518977.1_Missense_Mutation_p.A144V|TNIP1_ENST00000522226.1_Missense_Mutation_p.A144V|TNIP1_ENST00000315050.7_Missense_Mutation_p.A144V|TNIP1_ENST00000523200.1_Missense_Mutation_p.A144V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	144	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCACCATCGCATTGGCATG	0.562																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(430-432)gCg>gTg		TNFAIP3 interacting protein 1							82.0	77.0	79.0					5																	150439883		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150439883G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.431C>T	5.37:g.150439883G>A	ENSP00000374029:p.Ala144Val					TNIP1_ENST00000523338.1_Missense_Mutation_p.A144V|TNIP1_ENST00000520931.1_Missense_Mutation_p.A91V|TNIP1_ENST00000521591.1_Missense_Mutation_p.A144V|TNIP1_ENST00000524280.1_Missense_Mutation_p.A144V|TNIP1_ENST00000522226.1_Missense_Mutation_p.A144V|TNIP1_ENST00000518977.1_Missense_Mutation_p.A144V|TNIP1_ENST00000315050.7_Missense_Mutation_p.A144V|TNIP1_ENST00000523200.1_Missense_Mutation_p.A144V	p.A144V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1019	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	144			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.431C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020027	0.19433	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.13196	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.83;2.61	5.24	-2.63	0.06133	.	1.599960	0.03137	N	0.166100	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.002;0.002;0.003;0.002;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.002;0.0;0.0;0.001	T	0.26189	-1.0110	10	0.29301	T	0.29	3.2682	1.7587	0.02987	0.2908:0.1029:0.3954:0.2109	.	144;98;98;144;144;144;144	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	V	91;144;144;144;101;101;106;144;144;144;144;144;101;91	ENSP00000429891:A91V;ENSP00000374029:A144V;ENSP00000317891:A144V;ENSP00000428243:A144V;ENSP00000428187:A144V;ENSP00000430760:A144V;ENSP00000430971:A144V;ENSP00000429912:A144V;ENSP00000431105:A144V;ENSP00000428487:A91V	ENSP00000317891:A144V	A	-	2	0	TNIP1	150420076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.441000	0.06879	-0.851000	0.04147	-1.966000	0.00469	GCG		0.562	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		11	23	0	0	0	1	0	11	23				
KCNT2	343450	broad.mit.edu	37	1	196285152	196285152	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:196285152C>A	ENST00000294725.9	-	21	3268	c.2353G>T	c.(2353-2355)Gat>Tat	p.D785Y	KCNT2_ENST00000367433.5_Missense_Mutation_p.D761Y|KCNT2_ENST00000609185.1_Missense_Mutation_p.D711Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.D711Y|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	785					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTAAGTCATCTAGGCTTTGA	0.388																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2281-2283)Gat>Tat		potassium channel, subfamily T, member 2							89.0	79.0	82.0					1																	196285152		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285152C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2353G>T	1.37:g.196285152C>A	ENSP00000294725:p.Asp785Tyr					KCNT2_ENST00000294725.8_Missense_Mutation_p.D785Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.D711Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Splice_Site	p.D761Y			Q6UVM3	KCNT2_HUMAN			20	2382	-			785					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2281G>T	CCDS1384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521796|4.521796	0.85600|0.85600	.|.	.|.	ENSG00000162687|ENSG00000162687	ENST00000451324|ENST00000367433;ENST00000367431;ENST00000294725	.|T;T;T	.|0.79554	.|-1.28;-1.28;-1.28	5.87|5.87	4.97|4.97	0.65823|0.65823	.|.	.|0.186217	.|0.37623	.|N	.|0.002011	.|D	.|0.90369	.|0.6986	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.998;1.0;1.0;1.0;0.998	.|D	.|0.91861	.|0.5499	.|10	.|0.72032	.|D	.|0.01	.|-13.6486	15.1644|15.1644	0.72811|0.72811	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|785;743;761;711;785	.|A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.|.;.;.;.;KCNT2_HUMAN	.|Y	-1|761;711;785	.|ENSP00000356403:D761Y;ENSP00000356401:D711Y;ENSP00000294725:D785Y	.|ENSP00000294725:D785Y	.|D	-|-	.|1	.|0	KCNT2|KCNT2	194551775|194551775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.054000|6.054000	0.71096|0.71096	1.480000|1.480000	0.48289|0.48289	0.650000|0.650000	0.86243|0.86243	.|GAT		0.388	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		8	15	1	0	0.335167	1	0.335495	8	15				
IFIT1B	439996	broad.mit.edu	37	10	91143820	91143820	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91143820G>T	ENST00000371809.3	+	2	830	c.750G>T	c.(748-750)caG>caT	p.Q250H	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	250										endometrium(2)|large_intestine(3)|lung(8)	13						TATCTTCACAGGCCTATGTCT	0.423																																						ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(748-750)caG>caT		interferon-induced protein with tetratricopeptide repeats 1B							132.0	142.0	139.0					10																	91143820		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143820G>T		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.750G>T	10.37:g.91143820G>T	ENSP00000360874:p.Gln250His					LIPA_ENST00000371837.1_Intron	p.Q250H	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	830	+			250					A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.750G>T	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.949119	0.18356	.	.	ENSG00000204010	ENST00000371809	T	0.36699	1.24	4.05	1.67	0.24075	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.721838	0.13806	N	0.361452	T	0.25158	0.0611	L	0.45228	1.405	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.29941	-0.9995	10	0.13853	T	0.58	.	6.3962	0.21613	0.2156:0.0:0.7844:0.0	.	250	Q5T764	IFT1B_HUMAN	H	250	ENSP00000360874:Q250H	ENSP00000360874:Q250H	Q	+	3	2	IFIT1B	91133800	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.149000	0.19098	0.557000	0.71058	CAG		0.423	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		6	145	1	0	0.217242	1	0.217582	6	145				
ENPP2	5168	broad.mit.edu	37	8	120631537	120631537	+	Silent	SNP	C	C	T	rs200364301		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:120631537C>T	ENST00000075322.6	-	5	484	c.426G>A	c.(424-426)tcG>tcA	p.S142S	ENPP2_ENST00000259486.6_Silent_p.S142S|ENPP2_ENST00000522826.1_Silent_p.S142S|ENPP2_ENST00000427067.2_Silent_p.S138S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	142	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAACCCAATGCGACTCTCCTA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(412-414)tcG>tcA		ectonucleotide pyrophosphatase/phosphodiesterase 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	103.0	96.0	99.0		426,426,426	-11.0	0.4	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	142/864,142/889,142/916	120631537	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120631537C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.426G>A	8.37:g.120631537C>T						ENPP2_ENST00000259486.6_Silent_p.S142S|ENPP2_ENST00000522826.1_Silent_p.S142S|ENPP2_ENST00000075322.6_Silent_p.S142S	p.S138S			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	594	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		142			SMB 2.		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.414G>A	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			25	48	0	0	0	1	0	25	48				
STON2	85439	broad.mit.edu	37	14	81745071	81745071	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81745071G>A	ENST00000267540.2	-	4	784	c.584C>T	c.(583-585)tCg>tTg	p.S195L	STON2_ENST00000555447.1_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	195					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTCTTGAAGCGAGGAGGAATT	0.493																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(583-585)tCg>tTg		stonin 2							55.0	58.0	57.0					14																	81745071		2202	4300	6502	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81745071G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.584C>T	14.37:g.81745071G>A	ENSP00000267540:p.Ser195Leu					STON2_ENST00000267540.2_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	p.S195L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	996	-			195					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.584C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	6.736	0.504652	0.12822	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	6.11	5.22	0.72569	Stonin-2, N-terminal (1);	0.152767	0.47093	N	0.000254	T	0.44117	0.1278	L	0.45581	1.43	0.35098	D	0.764986	P;P	0.45986	0.87;0.842	B;B	0.35470	0.203;0.129	T	0.59974	-0.7353	10	0.42905	T	0.14	-8.7092	15.4263	0.75055	0.0661:0.0:0.9339:0.0	.	195;195	Q8WXE9;G3V2T7	STON2_HUMAN;.	L	195;207;195	ENSP00000450857:S195L;ENSP00000267540:S195L	ENSP00000267540:S195L	S	-	2	0	STON2	80814824	1.000000	0.71417	0.986000	0.45419	0.089000	0.18198	3.858000	0.55979	1.605000	0.50152	0.655000	0.94253	TCG		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		6	51	0	0	0	1	0	6	51				
MYPN	84665	broad.mit.edu	37	10	69957223	69957223	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69957223G>A	ENST00000358913.5	+	16	3761	c.3273G>A	c.(3271-3273)cgG>cgA	p.R1091R	MYPN_ENST00000354393.2_Silent_p.R816R|MYPN_ENST00000540630.1_Silent_p.R1091R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1091	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCTCTGTCGGCTGGACTGTA	0.458																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3271-3273)cgG>cgA		myopalladin							96.0	99.0	98.0					10																	69957223		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69957223G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3273G>A	10.37:g.69957223G>A						MYPN_ENST00000354393.2_Silent_p.R816R|MYPN_ENST00000540630.1_Silent_p.R1091R	p.R1091R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			16	3761	+			1091			Ig-like 4.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3273G>A	CCDS7275.1																																																																																				0.458	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		30	48	0	0	0	1	0	30	48				
CLTC	1213	broad.mit.edu	37	17	57724940	57724940	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57724940C>T	ENST00000269122.3	+	3	706	c.432C>T	c.(430-432)cgC>cgT	p.R144R	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.R144R	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	144	Globular terminal domain.|WD40-like repeat 3.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTTTGATCGCCATTCTAGCC	0.413			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(430-432)cgC>cgT		clathrin, heavy chain (Hc)							168.0	155.0	159.0					17																	57724940		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57724940C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.432C>T	17.37:g.57724940C>T						CLTC_ENST00000393043.1_Silent_p.R144R|CLTC_ENST00000579456.1_Intron	p.R144R	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			3	706	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		144			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.432C>T	CCDS32696.1																																																																																				0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		29	68	0	0	0	1	0	29	68				
GRIN2B	2904	broad.mit.edu	37	12	13768515	13768515	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13768515G>T	ENST00000609686.1	-	6	1621	c.1412C>A	c.(1411-1413)tCt>tAt	p.S471Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	471					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAACTTCACAGATTTAGAAAT	0.408																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1411-1413)tCt>tAt		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						172.0	186.0	181.0					12																	13768515		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768515G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1412C>A	12.37:g.13768515G>T	ENSP00000477455:p.Ser471Tyr						p.S471Y	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			6	1621	-			471					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1412C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800679	0.50315	.	.	ENSG00000150086	ENST00000279593	T	0.27890	1.64	6.02	6.02	0.97574	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.186441	0.48286	D	0.000187	T	0.19805	0.0476	N	0.11560	0.145	0.47737	D	0.999506	B	0.06786	0.001	B	0.10450	0.005	T	0.03887	-1.0995	10	0.52906	T	0.07	.	14.6664	0.68910	0.0688:0.0:0.9312:0.0	.	471	Q13224	NMDE2_HUMAN	Y	471	ENSP00000279593:S471Y	ENSP00000279593:S471Y	S	-	2	0	GRIN2B	13659782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.210000	0.51129	2.850000	0.98022	0.650000	0.86243	TCT		0.408	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			32	134	1	0	4.62619e-21	1	5.13336e-21	32	134				
SSPO	23145	broad.mit.edu	37	7	149500345	149500345	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149500345C>T	ENST00000378016.2	+	0	7871							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TATGTGAGTGCCGATCTGTGC	0.652																																						ENST00000378016.2																			0													SCO-spondin							48.0	58.0	54.0					7																	149500345		2156	4258	6414			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500345C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500345C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7871	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6	0	0	0	1	0	4	6				
STK17B	9262	broad.mit.edu	37	2	197004383	197004383	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197004383G>A	ENST00000263955.4	-	7	1083	c.797C>T	c.(796-798)gCc>gTc	p.A266V	STK17B_ENST00000409228.1_Missense_Mutation_p.A266V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AAAGTCTGTGGCCAGCTGTGA	0.284																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(796-798)gCc>gTc		serine/threonine kinase 17b							74.0	78.0	77.0					2																	197004383		2203	4298	6501	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004383G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.797C>T	2.37:g.197004383G>A	ENSP00000263955:p.Ala266Val					STK17B_ENST00000409228.1_Missense_Mutation_p.A266V	p.A266V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	1083	-			266			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.797C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056682	0.93793	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.66815	-0.23;-0.23	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000257	T	0.82190	0.4983	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84312	0.0511	10	0.87932	D	0	.	18.5138	0.90928	0.0:0.0:1.0:0.0	.	266	O94768	ST17B_HUMAN	V	266	ENSP00000263955:A266V;ENSP00000386853:A266V	ENSP00000263955:A266V	A	-	2	0	STK17B	196712628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.001000	0.93568	2.589000	0.87451	0.591000	0.81541	GCC		0.284	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			26	65	0	0	0	1	0	26	65				
IGSF21	84966	broad.mit.edu	37	1	18692021	18692021	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:18692021A>G	ENST00000251296.1	+	6	1228	c.845A>G	c.(844-846)gAg>gGg	p.E282G		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	282						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CACAGCGCCGAGCCCACCTAC	0.632																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(844-846)gAg>gGg		immunoglobin superfamily, member 21							111.0	106.0	108.0					1																	18692021		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692021A>G	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.845A>G	1.37:g.18692021A>G	ENSP00000251296:p.Glu282Gly						p.E282G	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1228	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	282					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.845A>G	CCDS184.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990040	0.54041	.	.	ENSG00000117154	ENST00000251296	T	0.56611	0.45	4.28	4.28	0.50868	.	0.205330	0.50627	D	0.000114	T	0.41650	0.1168	N	0.24115	0.695	0.52501	D	0.999956	P	0.47409	0.895	P	0.46362	0.514	T	0.15925	-1.0420	10	0.19147	T	0.46	-7.1286	12.6461	0.56735	1.0:0.0:0.0:0.0	.	282	Q96ID5	IGS21_HUMAN	G	282	ENSP00000251296:E282G	ENSP00000251296:E282G	E	+	2	0	IGSF21	18564608	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	5.371000	0.66150	1.929000	0.55896	0.459000	0.35465	GAG		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		22	30	0	0	0	1	0	22	30				
NISCH	11188	broad.mit.edu	37	3	52521840	52521840	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52521840C>T	ENST00000479054.1	+	17	2404	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L	NISCH_ENST00000345716.4_Silent_p.L778L			Q9Y2I1	NISCH_HUMAN	nischarin	778	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CATGCCGGAGCTGTGTCTGGT	0.602																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2332-2334)Ctg>Ttg		nischarin							100.0	85.0	90.0					3																	52521840		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521840C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2332C>T	3.37:g.52521840C>T						NISCH_ENST00000479054.1_Silent_p.L778L	p.L778L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2466	+			778			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.2332C>T	CCDS33767.1																																																																																				0.602	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		20	26	0	0	0	1	0	20	26				
ADCY4	196883	broad.mit.edu	37	14	24791325	24791325	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24791325C>T	ENST00000310677.4	-	21	2646	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	ADCY4_ENST00000418030.2_Missense_Mutation_p.V845M|ADCY4_ENST00000554068.2_Missense_Mutation_p.V845M	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	845					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGGGAGCACGTTCTCCAAG	0.612																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2533-2535)Gtg>Atg		adenylate cyclase 4							135.0	117.0	124.0					14																	24791325		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791325C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2533G>A	14.37:g.24791325C>T	ENSP00000312126:p.Val845Met					ADCY4_ENST00000418030.2_Missense_Mutation_p.V845M|ADCY4_ENST00000554068.2_Missense_Mutation_p.V845M	p.V845M	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2646	-			845					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2533G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922070	0.92319	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76839	-1.05;-1.05;-1.05	5.16	5.16	0.70880	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.45126	D	0.000392	T	0.76004	0.3927	L	0.55990	1.75	0.80722	D	1	P	0.52170	0.951	B	0.44133	0.442	T	0.77496	-0.2566	10	0.44086	T	0.13	.	16.1933	0.82006	0.0:1.0:0.0:0.0	.	845	Q8NFM4	ADCY4_HUMAN	M	845	ENSP00000312126:V845M;ENSP00000452250:V845M;ENSP00000393177:V845M	ENSP00000312126:V845M	V	-	1	0	ADCY4	23861165	1.000000	0.71417	0.978000	0.43139	0.978000	0.69477	5.862000	0.69560	2.696000	0.92011	0.655000	0.94253	GTG		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			52	62	0	0	0	1	0	52	62				
LARP1	23367	broad.mit.edu	37	5	154190896	154190896	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:154190896C>T	ENST00000336314.4	+	17	2726	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	978					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGAGGAAACGGTGAAGGAC	0.483																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2701-2703)aCg>aTg		La ribonucleoprotein domain family, member 1							102.0	98.0	100.0					5																	154190896		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154190896C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2702C>T	5.37:g.154190896C>T	ENSP00000336721:p.Thr901Met						p.T901M	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2726	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	978					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2702C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374729	0.95923	.	.	ENSG00000155506	ENST00000336314	T	0.40225	1.04	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.77493	-0.2567	10	0.87932	D	0	-17.255	20.5792	0.99380	0.0:1.0:0.0:0.0	.	978;901	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	M	901	ENSP00000336721:T901M	ENSP00000336721:T901M	T	+	2	0	LARP1	154171089	1.000000	0.71417	0.846000	0.33378	0.962000	0.63368	7.755000	0.85180	2.873000	0.98535	0.561000	0.74099	ACG		0.483	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		23	33	0	0	0	1	0	23	33				
CSDC2	27254	broad.mit.edu	37	22	41969707	41969707	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41969707G>T	ENST00000306149.7	+	3	769	c.225G>T	c.(223-225)caG>caT	p.Q75H		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	75	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						TCTGTAAGCAGTTCTCACGCT	0.612																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(223-225)caG>caT		cold shock domain containing C2, RNA binding							130.0	108.0	115.0					22																	41969707		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969707G>T	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.225G>T	22.37:g.41969707G>T	ENSP00000302485:p.Gln75His						p.Q75H	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			3	769	+			75			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.225G>T	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886501	0.72410	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.41	5.41	0.78517	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.107337	0.64402	D	0.000004	T	0.37073	0.0990	N	0.03608	-0.345	0.54753	D	0.999987	P	0.44309	0.832	P	0.45998	0.5	T	0.30621	-0.9972	9	0.16420	T	0.52	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	75	Q9Y534	CSDC2_HUMAN	H	75;58	.	ENSP00000302485:Q75H	Q	+	3	2	CSDC2	40299653	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.965000	0.76067	2.534000	0.85438	0.555000	0.69702	CAG		0.612	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		8	42	1	0	0.00307968	1	0.00311927	8	42				
ARID4A	5926	broad.mit.edu	37	14	58790255	58790255	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58790255C>T	ENST00000355431.3	+	8	875	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ARID4A_ENST00000348476.3_Missense_Mutation_p.R168C|ARID4A_ENST00000431317.2_Missense_Mutation_p.R168C|ARID4A_ENST00000395168.3_Missense_Mutation_p.R168C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	168					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGACAAGCGCCGTCTCAA	0.368																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(502-504)Cgc>Tgc		AT rich interactive domain 4A (RBP1-like)							146.0	138.0	141.0					14																	58790255		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58790255C>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.502C>T	14.37:g.58790255C>T	ENSP00000347602:p.Arg168Cys					ARID4A_ENST00000348476.3_Missense_Mutation_p.R168C|ARID4A_ENST00000431317.2_Missense_Mutation_p.R168C|ARID4A_ENST00000395168.3_Missense_Mutation_p.R168C	p.R168C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			8	875	+			168					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.502C>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817154	0.70912	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.17370	2.28;2.28;2.29;2.28	5.44	0.442	0.16582	RBB1NT (1);	0.138392	0.64402	D	0.000005	T	0.33059	0.0850	L	0.57536	1.79	0.58432	D	0.999996	D;D;B	0.89917	1.0;0.999;0.26	P;D;B	0.63192	0.899;0.912;0.092	T	0.25779	-1.0122	10	0.87932	D	0	-2.8983	15.0301	0.71698	0.774:0.226:0.0:0.0	.	168;168;168	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	C	168;168;168;131;168	ENSP00000347602:R168C;ENSP00000344556:R168C;ENSP00000378597:R168C;ENSP00000397368:R168C	ENSP00000344556:R168C	R	+	1	0	ARID4A	57860008	0.978000	0.34361	0.946000	0.38457	0.853000	0.48598	1.212000	0.32394	0.271000	0.22005	0.655000	0.94253	CGC		0.368	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		33	29	0	0	0	1	0	33	29				
RFX3	5991	broad.mit.edu	37	9	3263044	3263044	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:3263044T>C	ENST00000382004.3	-	14	1807	c.1496A>G	c.(1495-1497)tAc>tGc	p.Y499C	RFX3_ENST00000302303.1_Missense_Mutation_p.Y499C|RFX3_ENST00000358730.2_Missense_Mutation_p.Y499C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	499					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAGCGACGTGTATCTTCGCAG	0.498																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1495-1497)tAc>tGc		regulatory factor X, 3 (influences HLA class II expression)							167.0	141.0	150.0					9																	3263044		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263044T>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1496A>G	9.37:g.3263044T>C	ENSP00000371434:p.Tyr499Cys					RFX3_ENST00000358730.2_Missense_Mutation_p.Y499C|RFX3_ENST00000302303.1_Missense_Mutation_p.Y499C	p.Y499C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1807	-			499					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1496A>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652193	0.88056	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	M	0.89214	3.015	0.80722	D	1	P;D	0.71674	0.938;0.998	P;D	0.73708	0.772;0.981	T	0.78964	-0.1996	10	0.66056	D	0.02	-10.4584	16.8061	0.85666	0.0:0.0:0.0:1.0	.	499;499	P48380-2;P48380	.;RFX3_HUMAN	C	499;499;499;72	ENSP00000371434:Y499C;ENSP00000351574:Y499C;ENSP00000303847:Y499C;ENSP00000400026:Y72C	ENSP00000303847:Y499C	Y	-	2	0	RFX3	3253044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TAC		0.498	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		17	29	0	0	0	1	0	17	29				
CDC25A	993	broad.mit.edu	37	3	48200940	48200940	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48200940C>T	ENST00000302506.3	-	14	1736	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	CDC25A_ENST00000351231.3_Missense_Mutation_p.R403Q	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	443	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTCACATACCGGCACCTAGT	0.512																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1327-1329)cGg>cAg		cell division cycle 25A							84.0	71.0	76.0					3																	48200940		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200940C>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1328G>A	3.37:g.48200940C>T	ENSP00000303706:p.Arg443Gln					CDC25A_ENST00000351231.3_Missense_Mutation_p.R403Q	p.R443Q	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1736	-			443			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.1328G>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422820	0.96111	.	.	ENSG00000164045	ENST00000302506;ENST00000351231	T;T	0.25414	1.8;1.8	5.76	5.76	0.90799	Rhodanese-like (5);	0.174595	0.51477	D	0.000100	T	0.48077	0.1480	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66847	0.912;0.947	T	0.41197	-0.9522	10	0.87932	D	0	.	17.4698	0.87642	0.0:1.0:0.0:0.0	.	403;443	P30304-2;P30304	.;MPIP1_HUMAN	Q	443;403	ENSP00000303706:R443Q;ENSP00000343166:R403Q	ENSP00000303706:R443Q	R	-	2	0	CDC25A	48175944	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	5.525000	0.67110	2.713000	0.92767	0.655000	0.94253	CGG		0.512	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		21	30	0	0	0	1	0	21	30				
IZUMO1	284359	broad.mit.edu	37	19	49244260	49244260	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49244260C>T	ENST00000332955.2	-	10	1505	c.958G>A	c.(958-960)Gat>Aat	p.D320N	RASIP1_ENST00000594232.1_5'Flank|RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	320					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTGATGAAATCGATCACCTTC	0.517																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(958-960)Gat>Aat		izumo sperm-egg fusion 1							118.0	104.0	109.0					19																	49244260		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49244260C>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.958G>A	19.37:g.49244260C>T	ENSP00000327786:p.Asp320Asn						p.D320N	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	10	1505	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	320					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.958G>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232155	0.22626	.	.	ENSG00000182264	ENST00000332955	T	0.26660	1.72	3.11	-1.93	0.07594	.	3.286190	0.01067	N	0.004759	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	1	B	0.28470	0.213	B	0.15870	0.014	T	0.08351	-1.0726	10	0.12430	T	0.62	0.0495	3.5485	0.07837	0.0:0.4402:0.1948:0.365	.	320	Q8IYV9	IZUM1_HUMAN	N	320	ENSP00000327786:D320N	ENSP00000327786:D320N	D	-	1	0	IZUMO1	53936072	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.629000	0.05508	-0.218000	0.10018	-0.150000	0.13652	GAT		0.517	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		27	32	0	0	0	1	0	27	32				
IFIT3	3437	broad.mit.edu	37	10	91099418	91099418	+	Missense_Mutation	SNP	G	G	A	rs151167903		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91099418G>A	ENST00000371818.4	+	2	1186	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A336T|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	336					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCCGATCTCGCTGAGTTCCT	0.423																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1006-1008)Gct>Act		interferon-induced protein with tetratricopeptide repeats 3			THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		1006,1006	-5.4	0.0	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	IFIT3	NM_001031683.2,NM_001549.4	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	336/491,336/491	91099418	1,13005	2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099418G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1006G>A	10.37:g.91099418G>A	ENSP00000360883:p.Ala336Thr					LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A336T|LIPA_ENST00000487618.1_Intron	p.A336T	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1186	+			336					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1006G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719845	0.30503	2.27E-4	0.0	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.55052	0.54;0.54	4.18	-5.45	0.02616	Tetratricopeptide-like helical (1);	0.495478	0.21138	N	0.079540	T	0.24470	0.0593	N	0.25245	0.725	0.09310	N	1	P	0.49635	0.926	B	0.38327	0.271	T	0.31280	-0.9949	10	0.54805	T	0.06	0.0723	2.7805	0.05359	0.1428:0.1362:0.4482:0.2728	.	336	O14879	IFIT3_HUMAN	T	336;336;157	ENSP00000360883:A336T;ENSP00000360876:A336T	ENSP00000360876:A336T	A	+	1	0	IFIT3	91089398	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.589000	0.23939	-0.977000	0.03537	-0.926000	0.02714	GCT		0.423	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		39	62	0	0	0	1	0	39	62				
ALDH3B2	222	broad.mit.edu	37	11	67431903	67431903	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67431903C>T	ENST00000349015.3	-	8	1275	c.837G>A	c.(835-837)aaG>aaA	p.K279K	ALDH3B2_ENST00000530069.1_Silent_p.K279K|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	279					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGGCCAGGGGCTTCTCCTGCC	0.642																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(835-837)aaG>aaA		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						124.0	114.0	118.0					11																	67431903		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431903C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.837G>A	11.37:g.67431903C>T						ALDH3B2_ENST00000530069.1_Silent_p.K279K	p.K279K	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			8	1275	-			279					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.837G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730519	0.15507	.	.	ENSG00000132746	ENST00000531248	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55029	-0.8204	4	.	.	.	.	8.5871	0.33664	0.0:0.8898:0.0:0.1102	.	.	.	.	T	50	.	.	A	-	1	0	ALDH3B2	67188479	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.155000	0.31700	2.093000	0.63338	0.561000	0.74099	GCC		0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		32	46	0	0	0	1	0	32	46				
TRPA1	8989	broad.mit.edu	37	8	72958763	72958763	+	Silent	SNP	C	C	T	rs145960717	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:72958763C>T	ENST00000262209.4	-	17	2253	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	682					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGGCTGTAAGCGGTTCATATA	0.279													A|||	5	0.000998403	0.003	0.0014	5008	,	,		14758	0.0		0.0	False		,,,				2504	0.0					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2044-2046)ccG>ccA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	A		23,4383		0,23,2180	171.0	184.0	180.0		2046	2.2	1.0	8	dbSNP_134	180	0,8598		0,0,4299	no	coding-synonymous	TRPA1	NM_007332.2		0,23,6479	TT,TC,CC		0.0,0.522,0.1769		682/1120	72958763	23,12981	2203	4299	6502	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72958763C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2046G>A	8.37:g.72958763C>T						RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.P682P	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2253	-			682					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2046G>A	CCDS34908.1																																																																																				0.279	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	60	0	0	0	1	0	7	60				
HCG17	414778	broad.mit.edu	37	6	30228211	30228211	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30228211G>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		GGATTACATCGCCCTGAACGA	0.607																																						ENST00000453558.1																			0																																																			0							g.chr6:30228211G>A	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30228211G>A						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.607	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		20	19	0	0	0	1	0	20	19				
ABCC8	6833	broad.mit.edu	37	11	17418790	17418790	+	Missense_Mutation	SNP	C	C	T	rs372153432		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17418790C>T	ENST00000389817.3	-	32	4006	c.3938G>A	c.(3937-3939)cGc>cAc	p.R1313H	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1314H			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1313					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCCATGGATGCGCTTCACAGC	0.617																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67	GRCh37	CM077499	ABCC8	M		c.(3940-3942)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	C	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	73.0	71.0	72.0		3938	5.1	1.0	11		72	0,8586		0,0,4293	no	missense	ABCC8	NM_000352.3	29	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1313/1582	17418790	1,12985	2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17418790C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3938G>A	11.37:g.17418790C>T	ENSP00000374467:p.Arg1313His					ABCC8_ENST00000389817.3_Missense_Mutation_p.R1313H	p.R1314H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	32	4066	-			1313					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3941G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365127	0.82463	2.27E-4	0.0	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.97232	-4.3;-4.3	5.07	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99813	1.1042	10	0.87932	D	0	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	1313	Q09428	ABCC8_HUMAN	H	1313;1314	ENSP00000374467:R1313H;ENSP00000303960:R1314H	ENSP00000303960:R1314H	R	-	2	0	ABCC8	17375366	1.000000	0.71417	0.991000	0.47740	0.669000	0.39330	4.940000	0.63533	2.350000	0.79820	0.555000	0.69702	CGC		0.617	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		18	40	0	0	0	1	0	18	40				
SLC6A16	28968	broad.mit.edu	37	19	49793460	49793460	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49793460G>A	ENST00000335875.4	-	12	2372	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	711					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TCTTTACTGGGTGTTAGCTGG	0.448																																						ENST00000335875.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2131-2133)Ccc>Tcc		solute carrier family 6, member 16							170.0	160.0	163.0					19																	49793460		1888	4124	6012	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793460G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.2131C>T	19.37:g.49793460G>A	ENSP00000338627:p.Pro711Ser					SLC6A16_ENST00000454748.3_3'UTR	p.P711S	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	12	2372	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	711					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.2131C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546255	0.13312	.	.	ENSG00000063127	ENST00000335875	T	0.74209	-0.82	3.8	-1.85	0.07784	.	318.091000	0.00166	N	0.000000	T	0.56514	0.1990	N	0.24115	0.695	0.09310	N	1	B	0.22800	0.075	B	0.16289	0.015	T	0.36768	-0.9734	10	0.44086	T	0.13	.	0.642	0.00812	0.1781:0.1848:0.3032:0.3338	.	711	Q9GZN6	S6A16_HUMAN	S	711	ENSP00000338627:P711S	ENSP00000338627:P711S	P	-	1	0	SLC6A16	54485272	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.343000	0.07791	-0.228000	0.09869	0.591000	0.81541	CCC		0.448	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		47	74	0	0	0	1	0	47	74				
KCNB1	3745	broad.mit.edu	37	20	47991512	47991512	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47991512G>T	ENST00000371741.4	-	2	751	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	195					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGAACATGATGGAAATTATGG	0.517																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(583-585)tcC>tcA		potassium voltage-gated channel, Shab-related subfamily, member 1							101.0	85.0	91.0					20																	47991512		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991512G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.585C>A	20.37:g.47991512G>T							p.S195S	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	751	-			195					Q14193	Silent	SNP	ENST00000371741.4	37	c.585C>A	CCDS13418.1																																																																																				0.517	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		10	12	1	0	1.08611e-07	1	1.14056e-07	10	12				
TMC3	342125	broad.mit.edu	37	15	81625594	81625594	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81625594G>A	ENST00000359440.5	-	22	2604	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.H824H	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CACACAGACCGTGCAGATACC	0.527																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2470-2472)caC>caT		transmembrane channel-like 3							81.0	79.0	80.0					15																	81625594		2058	4205	6263	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625594G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2469C>T	15.37:g.81625594G>A						RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.H823H|RP11-761I4.3_ENST00000560973.1_RNA	p.H824H			Q7Z5M5	TMC3_HUMAN			22	2607	-			823						Silent	SNP	ENST00000359440.5	37	c.2472C>T	CCDS45324.1																																																																																				0.527	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		17	20	0	0	0	1	0	17	20				
NR3C2	4306	broad.mit.edu	37	4	149356823	149356823	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:149356823T>C	ENST00000358102.3	-	2	1552	c.1190A>G	c.(1189-1191)tAc>tGc	p.Y397C	NR3C2_ENST00000512865.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y397C|NR3C2_ENST00000511528.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y397C	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	397	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGGTTTTATGTACTGGACAAT	0.423																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1189-1191)tAc>tGc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						89.0	91.0	91.0					4																	149356823		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356823T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1190A>G	4.37:g.149356823T>C	ENSP00000350815:p.Tyr397Cys					NR3C2_ENST00000511528.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y397C|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y397C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y397C|NR3C2_ENST00000342437.4_Missense_Mutation_p.Y397C	p.Y397C			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1552	-	all_hematologic(180;0.151)		397			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1190A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	9.696	1.153169	0.21371	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.93712	-3.26;-3.27;-3.26;-2.9;-2.85;-3.27	5.16	5.16	0.70880	.	0.115573	0.64402	D	0.000010	D	0.92169	0.7517	L	0.27053	0.805	0.47905	D	0.999543	D;D	0.76494	0.994;0.999	P;P	0.62813	0.707;0.907	D	0.90501	0.4474	9	.	.	.	.	9.0874	0.36590	0.2787:0.0:0.0:0.7213	.	397;397	B0ZBF5;B0ZBF6	.;.	C	397	ENSP00000341390:Y397C;ENSP00000347441:Y397C;ENSP00000350815:Y397C;ENSP00000423510:Y397C;ENSP00000343907:Y397C;ENSP00000421481:Y397C	.	Y	-	2	0	NR3C2	149576273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.756000	0.62205	2.082000	0.62665	0.533000	0.62120	TAC		0.423	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			30	50	0	0	0	1	0	30	50				
SYNE1	23345	broad.mit.edu	37	6	152718015	152718015	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152718015C>T	ENST00000367255.5	-	50	8052	c.7451G>A	c.(7450-7452)aGc>aAc	p.S2484N	SYNE1_ENST00000265368.4_Missense_Mutation_p.S2484N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2523N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2491N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2484					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTGAATGCTACTGACAAT	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(7450-7452)aGc>aAc		spectrin repeat containing, nuclear envelope 1							187.0	168.0	175.0					6																	152718015		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.chr6:152718015C>T	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.7451G>A	6.37:g.152718015C>T	ENSP00000356224:p.Ser2484Asn	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2523N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2491N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2484N	p.S2484N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	8052	-		Ovarian(120;0.0955)	2484					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.7451G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849984	0.32699	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	6.06	2.07	0.26955	.	0.425265	0.24573	N	0.037361	T	0.11750	0.0286	L	0.44542	1.39	0.58432	D	0.999996	B;B;B;B	0.31383	0.181;0.134;0.134;0.321	B;B;B;B	0.29862	0.036;0.05;0.05;0.108	T	0.04607	-1.0939	10	0.18710	T	0.47	.	7.782	0.29070	0.0:0.5926:0.2244:0.1829	.	2467;2484;2484;2491	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2484;2491;2484;2491;2523	ENSP00000356224:S2484N;ENSP00000396024:S2491N;ENSP00000265368:S2484N;ENSP00000390975:S2491N;ENSP00000341887:S2523N	ENSP00000265368:S2484N	S	-	2	0	SYNE1	152759708	0.983000	0.35010	0.996000	0.52242	0.998000	0.95712	0.458000	0.21892	0.898000	0.36418	0.650000	0.86243	AGC		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	105	0	0	0	1	0	18	105				
FH	2271	broad.mit.edu	37	1	241665775	241665775	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241665775G>A	ENST00000366560.3	-	8	1242	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	402					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AACTCAAAATGTCCATTGCTG	0.403			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1204-1206)Cat>Tat		fumarate hydratase							79.0	68.0	72.0					1																	241665775		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665775G>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1204C>T	1.37:g.241665775G>A	ENSP00000355518:p.His402Tyr						p.H402Y	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1242	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	402					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1204C>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232049	0.79688	.	.	ENSG00000091483	ENST00000366560	D	0.89617	-2.54	5.61	5.61	0.85477	L-Aspartase-like (1);	0.090102	0.85682	D	0.000000	D	0.93657	0.7974	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.93964	0.7243	10	0.87932	D	0	-35.2641	12.131	0.53942	0.0:0.0:0.8288:0.1712	.	402	P07954	FUMH_HUMAN	Y	402	ENSP00000355518:H402Y	ENSP00000355518:H402Y	H	-	1	0	FH	239732398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.650000	0.89964	0.655000	0.94253	CAT		0.403	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		17	43	0	0	0	1	0	17	43				
RPS6KA2	6196	broad.mit.edu	37	6	166844001	166844001	+	Silent	SNP	G	G	A	rs552673241		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166844001G>A	ENST00000265678.4	-	16	1744	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	RPS6KA2_ENST00000510118.1_Silent_p.R532R|RPS6KA2_ENST00000481261.2_Silent_p.R418R|RPS6KA2_ENST00000405189.3_Silent_p.R418R|RPS6KA2_ENST00000503859.1_Silent_p.R515R	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	507	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CACTGGCTTCGCGCTCCGAGA	0.597																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1594-1596)cgC>cgT		ribosomal protein S6 kinase, 90kDa, polypeptide 2							140.0	121.0	128.0					6																	166844001		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166844001G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1521C>T	6.37:g.166844001G>A						RPS6KA2_ENST00000481261.2_Silent_p.R418R|RPS6KA2_ENST00000405189.3_Silent_p.R418R|RPS6KA2_ENST00000503859.1_Silent_p.R515R|RPS6KA2_ENST00000265678.4_Silent_p.R507R	p.R532R			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	18	1936	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	507			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.1596C>T	CCDS5294.1																																																																																				0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		5	46	0	0	0	1	0	5	46				
DPYSL5	56896	broad.mit.edu	37	2	27121448	27121448	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27121448C>T	ENST00000288699.6	+	2	239	c.81C>T	c.(79-81)gaC>gaT	p.D27D	DPYSL5_ENST00000401478.1_Silent_p.D27D	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	27					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAGGCTGACGTCTACATCG	0.572																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(79-81)gaC>gaT		dihydropyrimidinase-like 5							159.0	132.0	141.0					2																	27121448		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121448C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.81C>T	2.37:g.27121448C>T						DPYSL5_ENST00000401478.1_Silent_p.D27D	p.D27D	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	239	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.81C>T	CCDS1730.1																																																																																				0.572	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	80	0	0	0	1	0	4	80				
MTMR2	8898	broad.mit.edu	37	11	95598776	95598776	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:95598776A>G	ENST00000346299.5	-	3	591	c.251T>C	c.(250-252)aTt>aCt	p.I84T	MTMR2_ENST00000352297.7_Missense_Mutation_p.I12T|MTMR2_ENST00000409459.1_Missense_Mutation_p.I12T|MTMR2_ENST00000393223.3_Missense_Mutation_p.I12T|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	84	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGTCTTTAATATTTTCTCC	0.403																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(34-36)aTt>aCt		myotubularin related protein 2							130.0	123.0	125.0					11																	95598776		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95598776A>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.251T>C	11.37:g.95598776A>G	ENSP00000345752:p.Ile84Thr					MTMR2_ENST00000346299.5_Missense_Mutation_p.I84T|MTMR2_ENST00000409459.1_Missense_Mutation_p.I12T|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I12T	p.I12T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			5	697	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	84			Ser-rich.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.35T>C	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661367	0.67700	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.76	5.76	0.90799	GRAM (2);	0.343936	0.34460	N	0.003951	D	0.88980	0.6585	M	0.63843	1.955	0.45318	D	0.998319	B;B	0.29552	0.248;0.248	B;B	0.35727	0.148;0.209	D	0.87294	0.2301	10	0.46703	T	0.11	.	15.7399	0.77887	1.0:0.0:0.0:0.0	.	84;84	A8K5G2;Q13614	.;MTMR2_HUMAN	T	84;12;12;12;12;67	ENSP00000345752:I84T;ENSP00000376915:I12T;ENSP00000386882:I12T;ENSP00000343737:I12T;ENSP00000396020:I12T	ENSP00000345752:I84T	I	-	2	0	MTMR2	95238424	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.466000	0.80914	2.185000	0.69588	0.482000	0.46254	ATT		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		41	52	0	0	0	1	0	41	52				
KIAA0355	9710	broad.mit.edu	37	19	34818985	34818985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34818985C>T	ENST00000299505.6	+	6	1906	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	345										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGTCCCTGTGCAGATAGGATC	0.602																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1033-1035)Cag>Tag		KIAA0355							69.0	71.0	70.0					19																	34818985		2203	4300	6503	SO:0001587	stop_gained	9710							g.chr19:34818985C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1033C>T	19.37:g.34818985C>T	ENSP00000299505:p.Gln345*						p.Q345*	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			6	1906	+	Esophageal squamous(110;0.162)		345					Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	c.1033C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	46	12.518326	0.99674	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.2187	19.5227	0.95192	0.0:1.0:0.0:0.0	.	.	.	.	X	345;48	.	ENSP00000299505:Q345X	Q	+	1	0	KIAA0355	39510825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.430000	0.80321	2.627000	0.88993	0.544000	0.68410	CAG		0.602	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		31	41	0	0	0	1	0	31	41				
RNF186	54546	broad.mit.edu	37	1	20141347	20141347	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:20141347G>A	ENST00000375121.2	-	1	424	c.248C>T	c.(247-249)cCg>cTg	p.P83L	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	83						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGCGGGCAGGTGAT	0.682																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(247-249)cCg>cTg		ring finger protein 186							48.0	46.0	47.0					1																	20141347		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141347G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.248C>T	1.37:g.20141347G>A	ENSP00000364263:p.Pro83Leu					RP11-91K11.2_ENST00000454736.1_RNA	p.P83L	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	424	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	83					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.248C>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118317	0.94385	.	.	ENSG00000178828	ENST00000375121	D	0.94576	-3.46	5.84	5.84	0.93424	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000011	D	0.98096	0.9372	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98771	1.0728	10	0.87932	D	0	-21.7518	18.7019	0.91623	0.0:0.0:1.0:0.0	.	83	Q9NXI6	RN186_HUMAN	L	83	ENSP00000364263:P83L	ENSP00000364263:P83L	P	-	2	0	RNF186	20013934	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.770000	0.85390	2.763000	0.94921	0.650000	0.86243	CCG		0.682	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		21	29	0	0	0	1	0	21	29				
CD247	919	broad.mit.edu	37	1	167410003	167410003	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167410003C>A	ENST00000362089.5	-	2	132	c.60G>T	c.(58-60)gaG>gaT	p.E20D	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Splice_Site_p.E20D			P20963	CD3Z_HUMAN	CD247 molecule	20					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	AGCTCTGTGCCTCTGTGCCAA	0.517																																					Ovarian(192;1815 2869 36877 43334)	ENST00000392122.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6						c.e2-1		CD247 molecule							86.0	71.0	76.0					1																	167410003		2203	4300	6503	SO:0001630	splice_region_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167410003C>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.59-1G>T	1.37:g.167410003C>A						CD247_ENST00000362089.5_Splice_Site_p.E20_splice|CD247_ENST00000483825.1_5'UTR	p.E20_splice	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		2	204	-			20					B1AK49|Q5VX13|Q8TAX4	Splice_Site	SNP	ENST00000362089.5	37	c.58_splice	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830777	0.16820	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	4.99	-0.588	0.11687	.	0.576472	0.14061	N	0.344060	T	0.07143	0.0181	N	0.21282	0.65	0.29436	N	0.859488	B;B;B	0.18013	0.025;0.0;0.0	B;B;B	0.17433	0.018;0.002;0.001	T	0.31138	-0.9954	8	0.13853	T	0.58	.	2.7008	0.05148	0.3058:0.3068:0.2987:0.0887	.	20;20;20	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	D	20	.	ENSP00000354782:E20D	E	-	3	2	CD247	165676627	0.900000	0.30661	0.995000	0.50966	0.879000	0.50718	-0.418000	0.07080	-0.156000	0.11079	-0.176000	0.13171	GAG		0.517	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053	Missense_Mutation	8	4	1	0	0.000274275	1	0.000279654	8	4				
SLC26A2	1836	broad.mit.edu	37	5	149360642	149360642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149360642C>T	ENST00000286298.4	+	3	1754	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	496					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGGAGCCCTTCGTAAATTTAG	0.398																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1486-1488)Cgt>Tgt		solute carrier family 26 (anion exchanger), member 2							92.0	95.0	94.0					5																	149360642		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360642C>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1486C>T	5.37:g.149360642C>T	ENSP00000286298:p.Arg496Cys						p.R496C	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1754	+			496					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1486C>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911505	0.17833	.	.	ENSG00000155850	ENST00000286298	D	0.93019	-3.15	6.17	0.505	0.16953	Sulphate transporter (1);	0.663319	0.16176	N	0.226075	D	0.92074	0.7488	M	0.85542	2.76	0.09310	N	1	B	0.27229	0.172	B	0.33196	0.159	D	0.83818	0.0245	10	0.38643	T	0.18	.	5.0259	0.14385	0.2088:0.4697:0.0:0.3216	.	496	P50443	S26A2_HUMAN	C	496	ENSP00000286298:R496C	ENSP00000286298:R496C	R	+	1	0	SLC26A2	149340835	0.000000	0.05858	0.013000	0.15412	0.756000	0.42949	0.064000	0.14437	-0.198000	0.10333	0.655000	0.94253	CGT		0.398	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		39	55	0	0	0	1	0	39	55				
NPY1R	4886	broad.mit.edu	37	4	164247095	164247095	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164247095C>T	ENST00000296533.2	-	2	1143	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(610-612)tcG>tcA		neuropeptide Y receptor Y1							85.0	74.0	78.0					4																	164247095		2203	4300	6503	SO:0001819	synonymous_variant	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247095C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.612G>A	4.37:g.164247095C>T						NPY1R_ENST00000509586.1_Intron	p.S204S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1143	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	204					B2R6H5	Silent	SNP	ENST00000296533.2	37	c.612G>A	CCDS34089.1																																																																																				0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			6	25	0	0	0	1	0	6	25				
WDR35	57539	broad.mit.edu	37	2	20135319	20135319	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20135319G>A	ENST00000345530.3	-	22	2608	c.2493C>T	c.(2491-2493)cgC>cgT	p.R831R	WDR35_ENST00000281405.4_Silent_p.R820R|WDR35_ENST00000416055.2_Silent_p.R396R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	831					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCAGCTAAGCGTTCCTGGT	0.353																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2491-2493)cgC>cgT		WD repeat domain 35							107.0	101.0	103.0					2																	20135319		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20135319G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2493C>T	2.37:g.20135319G>A						WDR35_ENST00000416055.2_Silent_p.R396R|WDR35_ENST00000281405.4_Silent_p.R820R	p.R831R	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			22	2608	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		831					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.2493C>T	CCDS33152.1																																																																																				0.353	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		24	33	0	0	0	1	0	24	33				
OR52E6	390078	broad.mit.edu	37	11	5862948	5862948	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5862948G>T	ENST00000329322.5	-	1	179	c.180C>A	c.(178-180)ccC>ccA	p.P60P	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.P64P	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATGGGCTCATGGA	0.458																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(178-180)ccC>ccA		olfactory receptor, family 52, subfamily E, member 6							124.0	124.0	124.0					11																	5862948		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862948G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.180C>A	11.37:g.5862948G>T						OR52E6_ENST00000379946.2_Silent_p.P64P|TRIM5_ENST00000380027.1_Intron	p.P60P	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	179	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	60					Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.180C>A	CCDS53597.1																																																																																				0.458	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		26	45	1	0	7.26314e-15	1	7.9373e-15	26	45				
CBWD2	150472	broad.mit.edu	37	2	114195456	114195456	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:114195456C>G	ENST00000259199.4	+	1	189	c.11C>G	c.(10-12)gCt>gGt	p.A4G	RP11-480C16.1_ENST00000608834.1_lincRNA|CBWD2_ENST00000433343.2_5'UTR|CBWD2_ENST00000416503.2_Missense_Mutation_p.A4G	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	4							ATP binding (GO:0005524)			endometrium(1)|lung(1)	2						ATGTTACCGGCTGTTGGATCT	0.627																																						ENST00000259199.4																			0				endometrium(1)|lung(1)	2						c.(10-12)gCt>gGt		COBW domain containing 2							26.0	31.0	29.0					2																	114195456		2154	4220	6374	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114195456C>G	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.11C>G	2.37:g.114195456C>G	ENSP00000259199:p.Ala4Gly					CBWD2_ENST00000433343.2_5'UTR|CBWD2_ENST00000416503.2_Missense_Mutation_p.A4G	p.A4G	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN			1	189	+			4					Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.11C>G	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.819286	0.32145	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000448780;ENST00000416503	T;T	0.08807	3.05;3.05	2.85	2.85	0.33270	.	0.677960	0.13379	N	0.392288	T	0.07188	0.0182	L	0.29908	0.895	0.58432	D	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.16424	-1.0403	10	0.66056	D	0.02	-19.2668	9.3401	0.38074	0.0:1.0:0.0:0.0	.	4	Q8IUF1	CBWD2_HUMAN	G	4	ENSP00000259199:A4G;ENSP00000411906:A4G	ENSP00000259199:A4G	A	+	2	0	CBWD2	113911926	0.000000	0.05858	0.004000	0.12327	0.044000	0.14063	0.865000	0.27940	1.617000	0.50277	0.398000	0.26397	GCT		0.627	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		34	44	0	0	0	1	0	34	44				
MED13	9969	broad.mit.edu	37	17	60062070	60062070	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60062070G>A	ENST00000397786.2	-	14	2709	c.2633C>T	c.(2632-2634)gCg>gTg	p.A878V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	878					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTGAACTGCGCTCCTATACT	0.338																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2632-2634)gCg>gTg		mediator complex subunit 13							94.0	86.0	88.0					17																	60062070		1817	4070	5887	SO:0001583	missense	9969				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062070G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2633C>T	17.37:g.60062070G>A	ENSP00000380888:p.Ala878Val						p.A878V	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			14	2709	-			878					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2633C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350176	0.41599	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73363	-0.74	6.06	6.06	0.98353	.	0.268407	0.43110	D	0.000616	T	0.60728	0.2291	N	0.19112	0.55	0.31176	N	0.702653	B	0.18863	0.031	B	0.14023	0.01	T	0.58002	-0.7713	10	0.26408	T	0.33	-7.1173	14.7494	0.69513	0.0685:0.0:0.9315:0.0	.	878	Q9UHV7	MED13_HUMAN	V	878;877	ENSP00000380888:A878V	ENSP00000262436:A877V	A	-	2	0	MED13	57416852	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.720000	0.61944	2.880000	0.98712	0.650000	0.86243	GCG		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		18	52	0	0	0	1	0	18	52				
ZNF385D	79750	broad.mit.edu	37	3	21467132	21467132	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:21467132C>T	ENST00000281523.2	-	6	1222	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	235						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ACTTCCATTCCGGGCTTCTAA	0.453																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(703-705)cGg>cAg		zinc finger protein 385D							97.0	91.0	93.0					3																	21467132		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21467132C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.704G>A	3.37:g.21467132C>T	ENSP00000281523:p.Arg235Gln						p.R235Q	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			6	1222	-			235						Missense_Mutation	SNP	ENST00000281523.2	37	c.704G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148822	0.78001	.	.	ENSG00000151789	ENST00000281523	T	0.34072	1.38	5.46	5.46	0.80206	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.55834	1.745	0.53688	D	0.999975	D	0.89917	1.0	D	0.74023	0.982	T	0.39643	-0.9604	10	0.21014	T	0.42	-10.3218	19.6421	0.95762	0.0:1.0:0.0:0.0	.	235	Q9H6B1	Z385D_HUMAN	Q	235	ENSP00000281523:R235Q	ENSP00000281523:R235Q	R	-	2	0	ZNF385D	21442136	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.742000	0.85008	2.709000	0.92574	0.563000	0.77884	CGG		0.453	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		14	30	0	0	0	1	0	14	30				
OR2G3	81469	broad.mit.edu	37	1	247769303	247769303	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247769303G>A	ENST00000320002.2	+	1	448	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGAACCCACGGCTTTGCCAA	0.507																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(415-417)cGg>cAg		olfactory receptor, family 2, subfamily G, member 3							184.0	170.0	175.0					1																	247769303		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769303G>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.416G>A	1.37:g.247769303G>A	ENSP00000326301:p.Arg139Gln					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R139Q	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	448	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		139					B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.416G>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	1.686	-0.505332	0.04261	.	.	ENSG00000177476	ENST00000320002	T	0.41758	0.99	3.8	-0.606	0.11619	GPCR, rhodopsin-like superfamily (1);	0.485631	0.14416	N	0.320950	T	0.24084	0.0583	N	0.25332	0.735	0.09310	N	1	B	0.20550	0.046	B	0.15052	0.012	T	0.19549	-1.0302	10	0.21014	T	0.42	.	7.6171	0.28165	0.4294:0.0:0.5706:0.0	.	139	Q8NGZ4	OR2G3_HUMAN	Q	139	ENSP00000326301:R139Q	ENSP00000326301:R139Q	R	+	2	0	OR2G3	245835926	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.070000	0.03440	-0.211000	0.10124	-0.452000	0.05504	CGG		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			49	69	0	0	0	1	0	49	69				
RUSC2	9853	broad.mit.edu	37	9	35546639	35546639	+	Silent	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35546639A>C	ENST00000455600.1	+	2	690	c.121A>C	c.(121-123)Aga>Cga	p.R41R	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGAGCACAAGACCTAATCC	0.597																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(121-123)Aga>Cga		RUN and SH3 domain containing 2							77.0	72.0	73.0					9																	35546639		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35546639A>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.121A>C	9.37:g.35546639A>C						RUSC2_ENST00000468041.1_3'UTR	p.R41R	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	690	+			41					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.121A>C	CCDS35008.1																																																																																				0.597	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		12	25	0	0	0	1	0	12	25				
ZNF99	7652	broad.mit.edu	37	19	22939742	22939742	+	IGR	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22939742A>G	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Splice_Site_p.C863C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTACCACATTCTTCAC	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.e6+1		zinc finger protein 99							40.0	43.0	42.0					19																	22939742		2059	4215	6274	SO:0001628	intergenic_variant	7652							g.chr19:22939742A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939742A>G							p.C863_splice							6	2588	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Splice_Site	SNP	ENST00000596209.1	37	c.2590_splice	CCDS59369.1																																																																																				0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		22	37	0	0	0	1	0	22	37				
GJA4	2701	broad.mit.edu	37	1	35260208	35260208	+	Missense_Mutation	SNP	C	C	T	rs61777220	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35260208C>T	ENST00000342280.4	+	2	482	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	132					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGTAGAGCGTCAGATGGC	0.667													C|||	21	0.00419329	0.0	0.0043	5008	,	,		15593	0.0		0.005	False		,,,				2504	0.0133					ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(394-396)Cgt>Tgt		gap junction protein, alpha 4, 37kDa		C	CYS/ARG	6,4400	8.1+/-20.4	0,6,2197	25.0	28.0	27.0		394	4.1	0.6	1	dbSNP_129	27	83,8517	46.7+/-105.8	1,81,4218	yes	missense	GJA4	NM_002060.2	180	1,87,6415	TT,TC,CC		0.9651,0.1362,0.6843	probably-damaging	132/334	35260208	89,12917	2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260208C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.394C>T	1.37:g.35260208C>T	ENSP00000343676:p.Arg132Cys						p.R132C	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	482	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	132					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.394C>T	CCDS30669.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	13.33	2.204491	0.38905	0.001362	0.009651	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97772	-4.47;-4.53	5.11	4.13	0.48395	.	0.687923	0.12258	N	0.484983	D	0.92567	0.7639	L	0.29908	0.895	0.35144	D	0.769098	P;P	0.51537	0.918;0.946	B;B	0.40565	0.276;0.333	D	0.93624	0.6950	10	0.66056	D	0.02	.	11.0588	0.47936	0.377:0.623:0.0:0.0	rs61777220	132;132	Q5JW71;P35212	.;CXA4_HUMAN	C	132	ENSP00000343676:R132C;ENSP00000409186:R132C	ENSP00000343676:R132C	R	+	1	0	GJA4	35032795	0.998000	0.40836	0.642000	0.29436	0.307000	0.27823	1.160000	0.31761	2.360000	0.80028	0.563000	0.77884	CGT		0.667	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		10	15	0	0	0	1	0	10	15				
TPTE2	93492	broad.mit.edu	37	13	20006632	20006632	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20006632G>A	ENST00000400230.2	-	16	1247	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	TPTE2_ENST00000457266.2_Silent_p.F290F|TPTE2_ENST00000382975.4_Silent_p.F361F|TPTE2_ENST00000255310.6_Silent_p.F324F|TPTE2_ENST00000382978.1_Silent_p.F361F|TPTE2_ENST00000390680.2_Silent_p.F324F|TPTE2_ENST00000382977.4_Silent_p.F401F|TPTE2_ENST00000400103.2_Silent_p.F290F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	401	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAAATAATGAATCTTTTTA	0.393																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1201-1203)ttC>ttT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							35.0	32.0	33.0					13																	20006632		2203	4295	6498	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20006632G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1203C>T	13.37:g.20006632G>A						TPTE2_ENST00000255310.6_Silent_p.F324F|TPTE2_ENST00000382978.1_Silent_p.F361F|TPTE2_ENST00000382975.4_Silent_p.F361F|TPTE2_ENST00000457266.2_Silent_p.F290F|TPTE2_ENST00000400103.2_Silent_p.F290F|TPTE2_ENST00000390680.2_Silent_p.F324F|TPTE2_ENST00000382977.4_Silent_p.F401F	p.F401F			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	16	1247	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	401			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.1203C>T	CCDS45014.1																																																																																				0.393	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	27	0	0	0	1	0	9	27				
CUL7	9820	broad.mit.edu	37	6	43018788	43018788	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43018788C>T	ENST00000265348.3	-	4	1236	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	CUL7_ENST00000535468.1_Missense_Mutation_p.R468Q|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	384	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCCAGCATCCGCACTCGCAT	0.567																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1402-1404)cGg>cAg		cullin 7							108.0	95.0	99.0					6																	43018788		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018788C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1151G>A	6.37:g.43018788C>T	ENSP00000265348:p.Arg384Gln					CUL7_ENST00000265348.3_Missense_Mutation_p.R384Q	p.R468Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	1489	-			384					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.1403G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413151	0.83449	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.86497	-2.13;-2.11	5.39	5.39	0.77823	CPH domain (1);Translation protein SH3-like, subgroup (1);	0.196855	0.44285	D	0.000466	D	0.91703	0.7377	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.964;0.999	D	0.92565	0.6061	10	0.87932	D	0	-15.0299	12.4935	0.55914	0.0:0.9231:0.0:0.0769	.	468;384	F5H0L1;Q14999	.;CUL7_HUMAN	Q	384;468	ENSP00000265348:R384Q;ENSP00000438788:R468Q	ENSP00000265348:R384Q	R	-	2	0	CUL7	43126766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.602000	0.61098	2.533000	0.85409	0.563000	0.77884	CGG		0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		25	37	0	0	0	1	0	25	37				
EPHB3	2049	broad.mit.edu	37	3	184295154	184295154	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184295154C>T	ENST00000330394.2	+	6	1830	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACTACGCCTGCACAG	0.622																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1378-1380)Cgc>Tgc		EPH receptor B3							45.0	48.0	47.0					3																	184295154		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295154C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1378C>T	3.37:g.184295154C>T	ENSP00000332118:p.Arg460Cys					EIF2B5_ENST00000444495.1_Intron	p.R460C	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		6	1830	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		460			Fibronectin type-III 2.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1378C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360611	0.82353	.	.	ENSG00000182580	ENST00000330394	T	0.58940	0.3	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.219434	0.46758	D	0.000267	T	0.73869	0.3642	M	0.88241	2.94	0.50039	D	0.999847	D	0.69078	0.997	P	0.50617	0.646	T	0.80471	-0.1368	10	0.87932	D	0	.	18.6062	0.91266	0.0:1.0:0.0:0.0	.	460	P54753	EPHB3_HUMAN	C	460	ENSP00000332118:R460C	ENSP00000332118:R460C	R	+	1	0	EPHB3	185777848	1.000000	0.71417	0.436000	0.26797	0.507000	0.33981	7.771000	0.85420	2.649000	0.89929	0.448000	0.29417	CGC		0.622	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		13	26	0	0	0	1	0	13	26				
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			2	Substitution - Missense(2)	p.S230L(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(688-690)tCa>tTa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							186.0	151.0	163.0					17																	30800864		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30800864C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.689C>T	17.37:g.30800864C>T	ENSP00000261712:p.Ser230Leu					PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	952	+		Breast(31;0.159)|Ovarian(249;0.182)	230			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.689C>T	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209922	0.58343	.	.	ENSG00000108671	ENST00000261712	T	0.48522	0.81	5.27	5.27	0.74061	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.84588	0.0665	10	0.87932	D	0	-5.8107	16.4142	0.83728	0.0:1.0:0.0:0.0	.	230;230	B4DTS5;O00231	.;PSD11_HUMAN	L	230	ENSP00000261712:S230L	ENSP00000261712:S230L	S	+	2	0	PSMD11	27824977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.735000	0.93741	0.655000	0.94253	TCA		0.413	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		34	58	0	0	0	1	0	34	58				
ARHGEF26	26084	broad.mit.edu	37	3	153840055	153840055	+	Missense_Mutation	SNP	G	G	A	rs552521961		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:153840055G>A	ENST00000356448.4	+	2	558	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A92T|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A92T	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	92					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAGAGCGGTGGCCAATGGTGG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		12720	0.0		0.0	False		,,,				2504	0.001				GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(274-276)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 26							12.0	16.0	15.0					3																	153840055		2000	4136	6136	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840055G>A	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.274G>A	3.37:g.153840055G>A	ENSP00000348828:p.Ala92Thr					ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A92T|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A92T	p.A92T	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	558	+			92					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.274G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330196	0.10956	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58060	0.36;0.36;2.17	4.49	-5.15	0.02866	.	1.068430	0.07356	N	0.883215	T	0.16642	0.0400	N	0.01874	-0.695	0.19775	N	0.999953	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.09843	T	0.71	-3.3443	2.0423	0.03553	0.3238:0.386:0.1712:0.1191	.	92;92	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	T	92	ENSP00000348828:A92T;ENSP00000423418:A92T;ENSP00000423295:A92T	ENSP00000348828:A92T	A	+	1	0	ARHGEF26	155322745	0.000000	0.05858	0.029000	0.17559	0.097000	0.18754	-2.609000	0.00886	-0.369000	0.08028	-0.314000	0.08810	GCC		0.697	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		8	8	0	0	0	1	0	8	8				
ARHGEF5	7984	broad.mit.edu	37	7	144060434	144060434	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:144060434C>A	ENST00000056217.5	+	2	846	c.672C>A	c.(670-672)ccC>ccA	p.P224P	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	224					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCTTGCATCCCCAGGAGGTCC	0.572																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(670-672)ccC>ccA		Rho guanine nucleotide exchange factor (GEF) 5							102.0	114.0	110.0					7																	144060434		2171	4266	6437	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060434C>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.672C>A	7.37:g.144060434C>A							p.P224P	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	846	+	Melanoma(164;0.14)		224					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.672C>A	CCDS34771.1																																																																																				0.572	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		47	180	1	0	3.56336e-21	1	3.95573e-21	47	180				
NBPF1	55672	broad.mit.edu	37	1	16895689	16895689	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16895689G>A	ENST00000430580.2	-	23	3380	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	831	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTTCATCCCAGGACTCCTGGG	0.478																																						ENST00000430580.2																			0											c.(2491-2493)tcC>tcT		neuroblastoma breakpoint family, member 1							55.0	56.0	56.0					1																	16895689		1568	3268	4836	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16895689G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2493C>T	1.37:g.16895689G>A						NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron	p.S831S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3380	-			831			NBPF 4.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2493C>T																																																																																					0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		30	247	0	0	0	1	0	30	247				
TTN	7273	broad.mit.edu	37	2	179413764	179413764	+	Silent	SNP	G	G	A	rs201529901		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179413764G>A	ENST00000591111.1	-	289	87890	c.87666C>T	c.(87664-87666)gcC>gcT	p.A29222A	TTN_ENST00000342992.6_Silent_p.A28295A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A21923A|TTN_ENST00000460472.2_Silent_p.A21798A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.A30863A|TTN_ENST00000342175.6_Silent_p.A21990A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29222	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.			A -> T (in Ref. 1; CAA62188). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTAAGTCGGCCTTACACA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92587-92589)gcC>gcT		titin							104.0	102.0	102.0					2																	179413764		1976	4156	6132	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413764G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87666C>T	2.37:g.179413764G>A						TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.A21990A|TTN_ENST00000591111.1_Silent_p.A29222A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.A21798A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28295A|TTN_ENST00000359218.5_Silent_p.A21923A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.A30863A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92813	-			29222			Fibronectin type-III 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92589C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	31	0	0	0	1	0	25	31				
MTMR8	55613	broad.mit.edu	37	X	63488557	63488557	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63488557C>T	ENST00000374852.3	-	14	2042	c.1975G>A	c.(1975-1977)Gac>Aac	p.D659N	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	659						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCAGAGATGTCCATGGCCCCA	0.557																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1975-1977)Gac>Aac		myotubularin related protein 8							81.0	72.0	75.0					X																	63488557		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488557C>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1975G>A	X.37:g.63488557C>T	ENSP00000363985:p.Asp659Asn					MTMR8_ENST00000453546.1_Intron	p.D659N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	2042	-			659					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1975G>A	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.149|9.149	1.015794|1.015794	0.19355|0.19355	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94232|.	-3.38|.	2.72|2.72	0.842|0.842	0.18927|0.18927	.|.	.|.	.|.	.|.	.|.	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.13594|.	0.008|.	B|.	0.04013|.	0.001|.	T|T	0.29058|0.29058	-1.0024|-1.0024	9|5	0.59425|.	D|.	0.04|.	.|.	6.7106|6.7106	0.23274|0.23274	0.0:0.7201:0.0:0.2799|0.0:0.7201:0.0:0.2799	.|.	659|.	Q96EF0|.	MTMR8_HUMAN|.	N|E	659;545|462	ENSP00000363985:D659N|.	ENSP00000247400:D545N|.	D|G	-|-	1|2	0|0	MTMR8|MTMR8	63405282|63405282	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.270000|-0.270000	0.08584|0.08584	-0.031000|-0.031000	0.13781|0.13781	-0.312000|-0.312000	0.09012|0.09012	GAC|GGA		0.557	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		20	21	0	0	0	1	0	20	21				
ALDH1B1	219	broad.mit.edu	37	9	38397186	38397186	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:38397186C>T	ENST00000377698.3	+	2	1594	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	481					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTGCCACACGCCATTTGGAGG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1441-1443)Cca>Tca		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						63.0	58.0	60.0					9																	38397186		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38397186C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1441C>T	9.37:g.38397186C>T	ENSP00000366927:p.Pro481Ser						p.P481S	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1594	+			481					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.1441C>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182735	0.78677	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.80994	-1.44	5.85	5.85	0.93711	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000007	D	0.92286	0.7553	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93537	0.6874	10	0.87932	D	0	.	17.6646	0.88200	0.0:1.0:0.0:0.0	.	481	P30837	AL1B1_HUMAN	S	481;182	ENSP00000366927:P481S	ENSP00000366927:P481S	P	+	1	0	ALDH1B1	38387186	0.991000	0.36638	0.405000	0.26409	0.984000	0.73092	4.306000	0.59117	2.761000	0.94854	0.655000	0.94253	CCA		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			7	24	0	0	0	1	0	7	24				
GCM1	8521	broad.mit.edu	37	6	52993189	52993189	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52993189C>T	ENST00000259803.7	-	6	1337	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	376					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAGACTGGACGTAGCTGTTA	0.478																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1126-1128)Gtc>Atc		glial cells missing homolog 1 (Drosophila)							190.0	189.0	189.0					6																	52993189		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993189C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1126G>A	6.37:g.52993189C>T	ENSP00000259803:p.Val376Ile						p.V376I	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1337	-	Lung NSC(77;0.0755)		376					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1126G>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746388	0.15710	.	.	ENSG00000137270	ENST00000259803	T	0.73897	-0.79	5.73	0.932	0.19466	.	0.921729	0.09295	N	0.821717	T	0.29882	0.0747	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10474	-1.0628	10	0.24483	T	0.36	-24.399	1.7166	0.02902	0.3107:0.3879:0.0993:0.2021	.	376	Q9NP62	GCM1_HUMAN	I	376	ENSP00000259803:V376I	ENSP00000259803:V376I	V	-	1	0	GCM1	53101148	0.001000	0.12720	0.108000	0.21378	0.796000	0.44982	0.074000	0.14662	0.206000	0.20587	-0.218000	0.12543	GTC		0.478	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			5	127	0	0	0	1	0	5	127				
ABHD11	83451	broad.mit.edu	37	7	73151925	73151925	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73151925T>C	ENST00000222800.3	-	3	498	c.429A>G	c.(427-429)ggA>ggG	p.G143G	LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000395147.4_Silent_p.G143G|ABHD11_ENST00000458339.1_Silent_p.G143G|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000437775.2_Silent_p.G136G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	143						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTCTTTCCTCCCATGCTGT	0.622																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(427-429)ggA>ggG		abhydrolase domain containing 11							46.0	38.0	41.0					7																	73151925		2203	4300	6503	SO:0001819	synonymous_variant	83451						hydrolase activity	g.chr7:73151925T>C	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.429A>G	7.37:g.73151925T>C						ABHD11_ENST00000437775.2_Silent_p.G136G|ABHD11_ENST00000458339.1_Silent_p.G143G|ABHD11_ENST00000395147.4_Silent_p.G143G	p.G143G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			3	498	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	143					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Silent	SNP	ENST00000222800.3	37	c.429A>G	CCDS5558.1																																																																																				0.622	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			5	14	0	0	0	1	0	5	14				
CABP4	57010	broad.mit.edu	37	11	67223812	67223812	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67223812G>A	ENST00000325656.5	+	3	517	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CABP4_ENST00000438189.2_Missense_Mutation_p.G42D	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	147	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACCGTGACGGCTACATCAGC	0.642																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(124-126)gGc>gAc		calcium binding protein 4							79.0	72.0	74.0					11																	67223812		2200	4295	6495	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223812G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.440G>A	11.37:g.67223812G>A	ENSP00000324960:p.Gly147Asp					CABP4_ENST00000325656.5_Missense_Mutation_p.G147D	p.G42D			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	469	+			147					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.125G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819336	0.71028	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	D;D	0.90261	-2.64;-2.64	4.07	4.07	0.47477	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96361	0.8813	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97442	1.0022	10	0.87932	D	0	-26.6411	15.5351	0.75996	0.0:0.0:1.0:0.0	.	147;42	P57796;P57796-2	CABP4_HUMAN;.	D	42;147	ENSP00000401555:G42D;ENSP00000324960:G147D	ENSP00000324960:G147D	G	+	2	0	CABP4	66980388	1.000000	0.71417	0.991000	0.47740	0.326000	0.28443	7.560000	0.82277	2.273000	0.75805	0.561000	0.74099	GGC		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			21	24	0	0	0	1	0	21	24				
RPGR	6103	broad.mit.edu	37	X	38178228	38178228	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:38178228A>G	ENST00000339363.3	-	5	490	c.323T>C	c.(322-324)gTa>gCa	p.V108A	RPGR_ENST00000342811.3_Missense_Mutation_p.V108A|RPGR_ENST00000338898.3_Missense_Mutation_p.V108A|RPGR_ENST00000318842.7_Missense_Mutation_p.V108A|RPGR_ENST00000309513.3_Missense_Mutation_p.V108A|RPGR_ENST00000378505.2_Missense_Mutation_p.V108A|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	108					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGTTGCATATACATTGCCTCC	0.398																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(322-324)gTa>gCa		retinitis pigmentosa GTPase regulator							116.0	102.0	107.0					X																	38178228		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38178228A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.323T>C	X.37:g.38178228A>G	ENSP00000343671:p.Val108Ala					RPGR_ENST00000309513.3_Missense_Mutation_p.V108A|RPGR_ENST00000342811.3_Missense_Mutation_p.V108A|RPGR_ENST00000339363.3_Missense_Mutation_p.V108A|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.V108A|RPGR_ENST00000318842.7_Missense_Mutation_p.V108A	p.V108A	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			5	499	-			108					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.323T>C		.	.	.	.	.	.	.	.	.	.	A	14.26	2.480870	0.44044	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.08	5.08	0.68730	.	0.158659	0.41712	U	0.000826	D	0.93546	0.7940	M	0.84948	2.725	0.37372	D	0.911652	P;P	0.48503	0.768;0.911	P;P	0.50617	0.517;0.646	D	0.95729	0.8773	10	0.87932	D	0	.	13.9574	0.64157	1.0:0.0:0.0:0.0	.	108;108	E9PE28;Q92834-2	.;.	A	108	ENSP00000343671:V108A;ENSP00000308783:V108A;ENSP00000340208:V108A;ENSP00000322219:V108A;ENSP00000339531:V108A;ENSP00000367766:V108A	ENSP00000308783:V108A	V	-	2	0	RPGR	38063172	0.999000	0.42202	0.026000	0.17262	0.078000	0.17371	8.931000	0.92884	1.671000	0.50874	0.481000	0.45027	GTA		0.398	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		33	8	0	0	0	1	0	33	8				
PPFIBP2	8495	broad.mit.edu	37	11	7673019	7673019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7673019C>T	ENST00000299492.4	+	23	2768	c.2380C>T	c.(2380-2382)Cga>Tga	p.R794*	PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R651*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R682*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R636*|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	794					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGGAGAAGCGAGAGAAAAT	0.582																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2380-2382)Cga>Tga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							134.0	128.0	130.0					11																	7673019		2201	4296	6497	SO:0001587	stop_gained	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7673019C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2380C>T	11.37:g.7673019C>T	ENSP00000299492:p.Arg794*					PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R651*|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R636*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R682*	p.R794*	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2768	+			794					B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	ENST00000299492.4	37	c.2380C>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.192011|8.192011	0.98699|0.98699	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000534552|ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	.|.	.|.	.|.	5.77|5.77	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|.	0.26231|.	0.0640|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22521|.	-1.0214|.	3|.	.|0.02654	.|T	.|1	-10.6557|-10.6557	11.0219|11.0219	0.47722|0.47722	0.2942:0.7058:0.0:0.0|0.2942:0.7058:0.0:0.0	.|.	.|.	.|.	.|.	V|X	25|794;135;636;717;682;651	.|.	.|ENSP00000299492:R794X	A|R	+|+	2|1	0|2	PPFIBP2|PPFIBP2	7629595|7629595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.833000|0.833000	0.47200|0.47200	2.748000|2.748000	0.47483|0.47483	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.582	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		31	30	0	0	0	1	0	31	30				
PSKH1	5681	broad.mit.edu	37	16	67943086	67943086	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67943086G>A	ENST00000291041.5	+	2	604	c.434G>A	c.(433-435)cGt>cAt	p.R145H		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TCGGAGCTGCGTGTGCTGCGT	0.612																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(433-435)cGt>cAt		protein serine kinase H1							94.0	90.0	91.0					16																	67943086		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943086G>A	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.434G>A	16.37:g.67943086G>A	ENSP00000291041:p.Arg145His						p.R145H	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	604	+		Ovarian(137;0.192)	145			Protein kinase.		Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.434G>A	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449030	0.26074	.	.	ENSG00000159792	ENST00000291041	T	0.66638	-0.22	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.198285	0.53938	D	0.000045	T	0.57489	0.2057	L	0.39898	1.24	0.38206	D	0.940332	B	0.13145	0.007	B	0.13407	0.009	T	0.59627	-0.7419	10	0.56958	D	0.05	-8.8945	11.8202	0.52235	0.0815:0.0:0.9185:0.0	.	145	P11801	KPSH1_HUMAN	H	145	ENSP00000291041:R145H	ENSP00000291041:R145H	R	+	2	0	PSKH1	66500587	0.999000	0.42202	0.995000	0.50966	0.009000	0.06853	4.928000	0.63447	2.456000	0.83038	0.655000	0.94253	CGT		0.612	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		14	24	0	0	0	1	0	14	24				
CEACAM6	4680	broad.mit.edu	37	19	42260867	42260867	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42260867C>T	ENST00000199764.6	+	2	642	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	142	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P142S(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCATGTATACCGTGAGTATTT	0.488																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.P142S(1)	breast(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.e2+1		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							242.0	241.0	241.0					19																	42260867		2203	4300	6503	SO:0001630	splice_region_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260867C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.424+1C>T	19.37:g.42260867C>T						CEA_ENST00000598976.1_Intron	p.P142_splice	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	642	+			142			Ig-like V-type.		Q13774|Q14920|Q53XP7	Splice_Site	SNP	ENST00000199764.6	37	c.424_splice	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	5.781	0.328519	0.10956	.	.	ENSG00000086548	ENST00000199764	T	0.21191	2.02	2.15	-0.876	0.10624	.	.	.	.	.	T	0.10895	0.0266	N	0.25992	0.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40496	-0.9560	9	0.07813	T	0.8	.	7.1362	0.25529	0.0:0.4392:0.5608:0.0	.	142	P40199	CEAM6_HUMAN	S	142	ENSP00000199764:P142S	ENSP00000199764:P142S	P	+	1	0	CEACAM6	46952707	0.001000	0.12720	0.010000	0.14722	0.046000	0.14306	-1.270000	0.02831	0.164000	0.19529	0.305000	0.20034	CCG		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		Missense_Mutation	5	204	0	0	0	1	0	5	204				
TNRC6B	23112	broad.mit.edu	37	22	40661215	40661215	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:40661215A>G	ENST00000454349.2	+	5	1192	c.981A>G	c.(979-981)acA>acG	p.T327T	TNRC6B_ENST00000335727.9_Silent_p.T327T|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	327	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CATTGGAAACAGATAATAGTA	0.473																																						ENST00000454349.2																			0				breast(1)	1						c.(979-981)acA>acG		trinucleotide repeat containing 6B							51.0	48.0	49.0					22																	40661215		1902	4121	6023	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661215A>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.981A>G	22.37:g.40661215A>G						TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.T327T	p.T327T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1192	+			327					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.981A>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.370343	0.01225	.	.	ENSG00000100354	ENST00000446273	.	.	.	5.07	-7.2	0.01495	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.30834	N	0.736358	.	.	.	.	.	.	T	0.32214	-0.9915	4	.	.	.	2.2603	0.8545	0.01179	0.3382:0.1289:0.2897:0.2432	.	.	.	.	R	70	.	.	Q	+	2	0	TNRC6B	38991161	0.001000	0.12720	0.068000	0.19968	0.746000	0.42486	-1.748000	0.01826	-0.858000	0.04110	-0.256000	0.11100	CAG		0.473	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				18	22	0	0	0	1	0	18	22				
RPS6KA1	6195	broad.mit.edu	37	1	26872461	26872461	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26872461C>T	ENST00000374168.2	+	3	262				RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R24W|RPS6KA1_ENST00000374166.4_Intron	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1						axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAGGAAGCAGCGGCCCAGGAT	0.697																																						ENST00000531382.1																			0				lung(1)	1						c.(70-72)Cgg>Tgg		ribosomal protein S6 kinase, 90kDa, polypeptide 1							15.0	15.0	15.0					1																	26872461		2198	4294	6492	SO:0001627	intron_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26872461C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.109-897C>T	1.37:g.26872461C>T						RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000530003.1_Intron	p.R24W	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	1	119	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	19					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.70C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769817	0.69992	.	.	ENSG00000117676	ENST00000531382	T	0.71103	-0.54	4.9	4.9	0.64082	.	0.000000	0.40908	D	0.000988	T	0.46946	0.1419	N	0.08118	0	0.80722	D	1	P	0.51653	0.947	B	0.33042	0.157	T	0.61613	-0.7027	10	0.72032	D	0.01	.	15.3775	0.74621	0.0:1.0:0.0:0.0	.	24	Q15418-2	.	W	24	ENSP00000435412:R24W	ENSP00000363278:R24W	R	+	1	2	RPS6KA1	26745048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.328000	0.59253	2.554000	0.86153	0.561000	0.74099	CGG		0.697	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		3	7	0	0	0	1	0	3	7				
NBEAL1	65065	broad.mit.edu	37	2	204001353	204001353	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204001353C>G	ENST00000449802.1	+	28	4667	c.4334C>G	c.(4333-4335)aCa>aGa	p.T1445R		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1445										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAATTACTGACACATATTTTG	0.343																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4333-4335)aCa>aGa		neurobeachin-like 1							82.0	77.0	78.0					2																	204001353		1835	4083	5918	SO:0001583	missense	65065						binding	g.chr2:204001353C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4334C>G	2.37:g.204001353C>G	ENSP00000399903:p.Thr1445Arg						p.T1445R	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			28	4667	+			1445					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4334C>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490063	0.64074	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56611	0.45	5.9	5.02	0.67125	.	0.942427	0.09016	N	0.860767	T	0.62539	0.2436	M	0.71581	2.175	0.46149	D	0.998893	D;D	0.54397	0.966;0.966	P;P	0.47299	0.543;0.543	T	0.61983	-0.6950	10	0.72032	D	0.01	.	14.6426	0.68737	0.0:0.9296:0.0:0.0704	.	1445;1434	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	R	1445	ENSP00000399903:T1445R	ENSP00000344985:T1445R	T	+	2	0	NBEAL1	203709598	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	3.556000	0.53734	1.497000	0.48584	0.650000	0.86243	ACA		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			15	22	0	0	0	1	0	15	22				
ADRA2C	152	broad.mit.edu	37	4	3768676	3768676	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3768676G>A	ENST00000330055.5	+	1	552	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A115T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	115					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGAGCTCATGGCCTACTGGTA	0.632																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(343-345)Gcc>Acc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						66.0	67.0	67.0					4																	3768676		2201	4300	6501	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768676G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.343G>A	4.37:g.3768676G>A	ENSP00000386069:p.Ala115Thr					ADRA2C_ENST00000509482.1_Missense_Mutation_p.A115T	p.A115T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	552	+			115					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.343G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943492	0.73672	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.36878	1.23;1.23	3.08	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33381	0.0861	N	0.25647	0.755	0.35817	D	0.824276	P;P	0.50272	0.933;0.772	P;P	0.53988	0.739;0.602	T	0.44143	-0.9347	9	0.87932	D	0	.	5.5766	0.17227	0.2566:0.0:0.7434:0.0	.	115;115	D6RGL0;P18825	.;ADA2C_HUMAN	T	115	ENSP00000426268:A115T;ENSP00000386069:A115T	ENSP00000386069:A115T	A	+	1	0	ADRA2C	3738474	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.562000	0.53777	1.558000	0.49541	0.462000	0.41574	GCC		0.632	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		5	26	0	0	0	1	0	5	26				
MXD3	83463	broad.mit.edu	37	5	176734710	176734710	+	Intron	SNP	C	C	T	rs368447121		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176734710C>T	ENST00000439742.2	-	6	984				MXD3_ENST00000513063.1_Intron|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000423571.2_Missense_Mutation_p.A193T	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTCTGCGCGGGGAGGGGT	0.682																																						ENST00000423571.2																			0											c.(577-579)Gcg>Acg		MAX dimerization protein 3		C	,	0,4406		0,0,2203	25.0	29.0	28.0		,	0.4	0.1	5		28	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron	MXD3	NM_001142935.1,NM_031300.3	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	,	176734710	1,13003	2203	4299	6502	SO:0001627	intron_variant	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176734710C>T	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.506-6G>A	5.37:g.176734710C>T						MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Intron|MXD3_ENST00000439742.2_Intron	p.A193T			Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	641	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	193					B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	ENST00000439742.2	37	c.577G>A	CCDS4416.1	.	.	.	.	.	.	.	.	.	.	C	8.721	0.914338	0.17907	0.0	1.16E-4	ENSG00000213347	ENST00000423571	T	0.42900	0.96	4.79	0.365	0.16131	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.27773	-1.0064	8	0.87932	D	0	.	3.2937	0.06958	0.3751:0.315:0.2299:0.0799	.	193	B4E0J1	.	T	193	ENSP00000389716:A193T	ENSP00000389716:A193T	A	-	1	0	MXD3	176667316	0.000000	0.05858	0.081000	0.20488	0.003000	0.03518	-0.860000	0.04272	0.035000	0.15519	-0.310000	0.09108	GCG		0.682	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			15	15	0	0	0	1	0	15	15				
ANKAR	150709	broad.mit.edu	37	2	190561072	190561072	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190561072G>T	ENST00000520309.1	+	7	1773	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	ANKAR_ENST00000313581.4_Missense_Mutation_p.R562M|ANKAR_ENST00000438402.2_Missense_Mutation_p.R562M|ANKAR_ENST00000431575.2_Missense_Mutation_p.R491M|ANKAR_ENST00000281412.6_Missense_Mutation_p.R326M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	562						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GTCAACCAGAGGCGCTTTGTT	0.368																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1684-1686)aGg>aTg		ankyrin and armadillo repeat containing							95.0	91.0	92.0					2																	190561072		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190561072G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1685G>T	2.37:g.190561072G>T	ENSP00000427882:p.Arg562Met					ANKAR_ENST00000438402.2_Missense_Mutation_p.R562M|ANKAR_ENST00000281412.6_Missense_Mutation_p.R326M|ANKAR_ENST00000431575.2_Missense_Mutation_p.R491M|ANKAR_ENST00000313581.4_Missense_Mutation_p.R562M	p.R562M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1773	+			562					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1685G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676260	0.47886	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.26	5.26	0.73747	.	0.973666	0.08383	N	0.954277	T	0.76054	0.3934	M	0.85710	2.77	0.36127	D	0.845904	.	.	.	.	.	.	T	0.76547	-0.2919	8	0.72032	D	0.01	-23.3728	17.6415	0.88138	0.0:0.0:1.0:0.0	.	.	.	.	M	562;562;562;491;326	ENSP00000427882:R562M;ENSP00000313513:R562M;ENSP00000397243:R562M;ENSP00000393043:R491M;ENSP00000281412:R326M	ENSP00000281412:R326M	R	+	2	0	ANKAR	190269317	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.827000	0.62723	2.456000	0.83038	0.557000	0.71058	AGG		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		31	59	1	0	2.09667e-21	1	2.32829e-21	31	59				
OAS3	4940	broad.mit.edu	37	12	113407445	113407445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113407445G>A	ENST00000228928.7	+	15	3316	c.3137G>A	c.(3136-3138)gGc>gAc	p.G1046D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1046	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GACCCGACAGGCAACCTGGGC	0.607																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(3136-3138)gGc>gAc		2'-5'-oligoadenylate synthetase 3, 100kDa							28.0	30.0	30.0					12																	113407445		2075	4217	6292	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113407445G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3137G>A	12.37:g.113407445G>A	ENSP00000228928:p.Gly1046Asp					RP1-71H24.1_ENST00000552784.1_RNA	p.G1046D	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			15	3316	+			1046			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.3137G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799463	0.50208	.	.	ENSG00000111331	ENST00000228928;ENST00000323881;ENST00000549918	T	0.43294	0.95	3.77	2.87	0.33458	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.34555	U	0.003870	T	0.58595	0.2133	M	0.74467	2.265	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47959	-0.9076	10	0.87932	D	0	.	6.6204	0.22800	0.1325:0.0:0.8675:0.0	.	1046	Q9Y6K5	OAS3_HUMAN	D	1046;1045;25	ENSP00000228928:G1046D	ENSP00000228928:G1046D	G	+	2	0	OAS3	111891828	1.000000	0.71417	0.173000	0.22940	0.880000	0.50808	2.545000	0.45769	0.801000	0.34066	0.557000	0.71058	GGC		0.607	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			5	8	0	0	0	1	0	5	8				
OR1A2	26189	broad.mit.edu	37	17	3101147	3101147	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3101147G>A	ENST00000381951.1	+	1	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	112					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAGGCAGACAGCTATACCTTG	0.493																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(334-336)aGc>aAc		olfactory receptor, family 1, subfamily A, member 2							151.0	124.0	133.0					17																	3101147		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101147G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.335G>A	17.37:g.3101147G>A	ENSP00000371377:p.Ser112Asn						p.S112N	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	335	+			112					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.335G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385688	0.01194	.	.	ENSG00000172150	ENST00000381951	T	0.00344	8.02	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00178	0.0005	L	0.28054	0.825	0.09310	N	1	B	0.16802	0.019	B	0.19391	0.025	T	0.40156	-0.9578	10	0.02654	T	1	.	10.0286	0.42087	0.1008:0.0:0.8992:0.0	.	112	Q9Y585	OR1A2_HUMAN	N	112	ENSP00000371377:S112N	ENSP00000371377:S112N	S	+	2	0	OR1A2	3047897	0.000000	0.05858	0.196000	0.23383	0.098000	0.18820	0.140000	0.16056	2.278000	0.76064	0.603000	0.83216	AGC		0.493	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		13	50	0	0	0	1	0	13	50				
RPL29	6159	broad.mit.edu	37	3	52028115	52028115	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52028115G>A	ENST00000466397.1	-	4	270	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	RPL29_ENST00000479017.1_Missense_Mutation_p.R44C|RPL29_ENST00000294189.6_Missense_Mutation_p.R44C|RPL29_ENST00000475248.1_Missense_Mutation_p.R44C|RPL29_ENST00000495383.1_Missense_Mutation_p.R44C			P47914	RL29_HUMAN	ribosomal protein L29	44					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGCAAAGCGCATGTTCCTC	0.552																																						ENST00000466397.1																			0				lung(1)	1						c.(130-132)Cgc>Tgc		ribosomal protein L29							67.0	78.0	74.0					3																	52028115		2203	4299	6502	SO:0001583	missense	6159				embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome	g.chr3:52028115G>A	U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"""L ribosomal proteins"""	10331	protein-coding gene	gene with protein product	"""60S ribosomal protein L29"", ""heparin/heparan sulfate-interacting protein"", ""HP/HS-interacting protein"", ""heparin/heparan sulfate-binding protein"", ""cell surface heparin-binding protein HIP"""	601832	"""ribosomal protein L29 pseudogene 10"""	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.130C>T	3.37:g.52028115G>A	ENSP00000418868:p.Arg44Cys					RPL29_ENST00000475248.1_Missense_Mutation_p.R44C|RPL29_ENST00000479017.1_Missense_Mutation_p.R44C|RPL29_ENST00000495383.1_Missense_Mutation_p.R44C|RPL29_ENST00000294189.6_Missense_Mutation_p.R44C	p.R44C			P47914	RL29_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	270	-			44					A8K0H3|B2R4M8|Q6IPY3	Missense_Mutation	SNP	ENST00000466397.1	37	c.130C>T	CCDS2845.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771684	0.49680	.	.	ENSG00000162244	ENST00000466397;ENST00000294189;ENST00000479017;ENST00000495383;ENST00000475248;ENST00000492277	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	N	0.21097	0.63	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05451	-1.0884	10	0.36615	T	0.2	.	15.6653	0.77225	0.0:0.0:1.0:0.0	.	44	P47914	RL29_HUMAN	C	44	ENSP00000418868:R44C;ENSP00000294189:R44C;ENSP00000418153:R44C;ENSP00000420673:R44C;ENSP00000417048:R44C;ENSP00000418346:R44C	ENSP00000294189:R44C	R	-	1	0	RPL29	52003155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.762000	0.68809	2.626000	0.88956	0.655000	0.94253	CGC		0.552	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349680.2	NM_000992		6	22	0	0	0	1	0	6	22				
KIAA2018	205717	broad.mit.edu	37	3	113375667	113375667	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:113375667A>G	ENST00000478658.1	-	5	4879	c.4862T>C	c.(4861-4863)gTa>gCa	p.V1621A	KIAA2018_ENST00000316407.4_Missense_Mutation_p.V1621A|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1621						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGGCCAGATACATGTTCAGA	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4861-4863)gTa>gCa		KIAA2018							148.0	136.0	140.0					3																	113375667		1929	4147	6076	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375667A>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4862T>C	3.37:g.113375667A>G	ENSP00000420721:p.Val1621Ala					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.V1621A	p.V1621A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	5272	-			1621					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4862T>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686653	0.47991	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15256	2.44;2.44	5.84	4.62	0.57501	.	0.442663	0.23069	N	0.052283	T	0.11580	0.0282	N	0.24115	0.695	0.30902	N	0.72911	B	0.34015	0.435	B	0.27262	0.078	T	0.07065	-1.0792	10	0.59425	D	0.04	-6.7218	12.7456	0.57280	0.8632:0.1368:0.0:0.0	.	1621	Q68DE3	K2018_HUMAN	A	1621	ENSP00000320794:V1621A;ENSP00000420721:V1621A	ENSP00000320794:V1621A	V	-	2	0	KIAA2018	114858357	0.059000	0.20769	0.994000	0.49952	0.985000	0.73830	2.578000	0.46051	2.228000	0.72767	0.533000	0.62120	GTA		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		20	25	0	0	0	1	0	20	25				
TMPRSS6	164656	broad.mit.edu	37	22	37462223	37462223	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37462223G>A	ENST00000346753.3	-	18	2449	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A791V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A791V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A769V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	778	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACCAGCCCCGCCAGGAACCA	0.627																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(2371-2373)gCg>gTg		transmembrane protease, serine 6							28.0	29.0	29.0					22																	37462223		2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462223G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2333C>T	22.37:g.37462223G>A	ENSP00000334962:p.Ala778Val					TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A778V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A769V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A791V	p.A791V			Q8IU80	TMPS6_HUMAN			19	2512	-			778			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2372C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411238	0.83340	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.46	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144445	0.44902	D	0.000416	D	0.83510	0.5270	N	0.02830	-0.485	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86311	0.1686	10	0.59425	D	0.04	.	12.6058	0.56523	0.082:0.0:0.918:0.0	.	791;778	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	V	791;778;769;791	ENSP00000371211:A791V;ENSP00000334962:A778V;ENSP00000385453:A769V;ENSP00000384964:A791V	ENSP00000334962:A778V	A	-	2	0	TMPRSS6	35792169	1.000000	0.71417	0.780000	0.31762	0.848000	0.48234	7.846000	0.86887	0.992000	0.38840	0.467000	0.42956	GCG		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		12	11	0	0	0	1	0	12	11				
ZNF572	137209	broad.mit.edu	37	8	125988871	125988871	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:125988871G>A	ENST00000319286.5	+	3	515	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAATGCCTGTGTCCAGCAGAA	0.433										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(361-363)Gtc>Atc		zinc finger protein 572							92.0	96.0	94.0					8																	125988871		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988871G>A	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.361G>A	8.37:g.125988871G>A	ENSP00000319305:p.Val121Ile	HNSCC(60;0.17)					p.V121I	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	515	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		121					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.361G>A	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145598	0.01714	.	.	ENSG00000180938	ENST00000319286	T	0.08282	3.11	4.89	0.489	0.16854	.	0.876147	0.09594	N	0.781164	T	0.04452	0.0122	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45086	-0.9285	10	0.33141	T	0.24	2.3493	0.4722	0.00533	0.2671:0.1919:0.3454:0.1956	.	121	Q7Z3I7	ZN572_HUMAN	I	121	ENSP00000319305:V121I	ENSP00000319305:V121I	V	+	1	0	ZNF572	126058052	0.066000	0.20996	0.008000	0.14137	0.236000	0.25371	0.923000	0.28757	0.019000	0.15079	-0.175000	0.13238	GTC		0.433	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		29	27	0	0	0	1	0	29	27				
OPLAH	26873	broad.mit.edu	37	8	145107481	145107481	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145107481G>A	ENST00000426825.1	-	23	3255	c.3174C>T	c.(3172-3174)cgC>cgT	p.R1058R	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1058					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAATGACCACGCGCACTGGCG	0.731																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3172-3174)cgC>cgT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						7.0	9.0	8.0					8																	145107481		1807	3890	5697	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145107481G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3174C>T	8.37:g.145107481G>A						OPLAH_ENST00000534424.1_5'UTR	p.R1058R	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		23	3255	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1058					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.3174C>T																																																																																					0.731	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		7	9	0	0	0	1	0	7	9				
NTRK1	4914	broad.mit.edu	37	1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156845889C>T	ENST00000524377.1	+	13	1560	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000368196.3_Missense_Mutation_p.R501C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACATCAAGCGCCGGGACAT	0.627			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1501-1503)Cgc>Tgc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						77.0	78.0	78.0					1																	156845889		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845889C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1519C>T	1.37:g.156845889C>T	ENSP00000431418:p.Arg507Cys	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R507C	p.R501C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			12	1621	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		507					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1501C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183614	0.78677	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.03	5.03	0.67393	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000018	D	0.93723	0.7994	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.996;0.997;1.0	D	0.94191	0.7441	10	0.87932	D	0	.	17.097	0.86638	0.0:1.0:0.0:0.0	.	504;501;507;471	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	471;501;507;504	ENSP00000376120:R471C;ENSP00000357179:R501C;ENSP00000431418:R507C;ENSP00000351486:R504C	ENSP00000351486:R504C	R	+	1	0	NTRK1	155112513	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	2.619000	0.88677	0.462000	0.41574	CGC		0.627	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		19	44	0	0	0	1	0	19	44				
PPM1K	152926	broad.mit.edu	37	4	89199518	89199518	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89199518T>C	ENST00000608933.1	-	2	607	c.218A>G	c.(217-219)gAg>gGg	p.E73G	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.E73G|PPM1K_ENST00000295908.7_Missense_Mutation_p.E73G|PPM1K_ENST00000514204.1_Missense_Mutation_p.E73G|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	73					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CAGAATTGGCTCATCAATGCG	0.507																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(217-219)gAg>gGg		protein phosphatase, Mg2+/Mn2+ dependent, 1K							89.0	86.0	87.0					4																	89199518		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199518T>C	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.218A>G	4.37:g.89199518T>C	ENSP00000477341:p.Glu73Gly					PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.E73G|PPM1K_ENST00000315194.4_Missense_Mutation_p.E73G	p.E73G	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	607	-		Hepatocellular(203;0.114)	73					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.218A>G	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769355	0.69992	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.56275	1.79;0.47;0.47	4.2	4.2	0.49525	Protein phosphatase 2C-like (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.69823	2.125	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.915	D;D;B	0.85130	0.972;0.997;0.392	T	0.73040	-0.4108	10	0.62326	D	0.03	-20.8661	12.7192	0.57131	0.0:0.0:0.0:1.0	.	73;73;73	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	G	73	ENSP00000295908:E73G;ENSP00000424155:E73G;ENSP00000324761:E73G	ENSP00000295908:E73G	E	-	2	0	PPM1K	89418542	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.014000	0.70784	1.903000	0.55091	0.260000	0.18958	GAG		0.507	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		10	21	0	0	0	1	0	10	21				
IGHV2-5	28457	broad.mit.edu	37	14	106494574	106494574	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106494574C>T	ENST00000390597.2	-	0	23									immunoglobulin heavy variable 2-5																		CAAAGTGTGTCCATGGTGGGG	0.552																																						ENST00000390597.2																			0																				91.0	91.0	91.0					14																	106494574		2071	4207	6278			0							g.chr14:106494574C>T	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287		14.37:g.106494574C>T														0	23	-									RNA	SNP	ENST00000390597.2	37																																																																																						0.552	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		10	12	0	0	0	1	0	10	12				
B3GNT3	10331	broad.mit.edu	37	19	17918795	17918795	+	Missense_Mutation	SNP	C	C	T	rs377004909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17918795C>T	ENST00000318683.6	+	2	326	c.179C>T	c.(178-180)cCg>cTg	p.P60L	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P60L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	60					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCCCGGCCCCGTGCCATGCC	0.677																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(178-180)cCg>cTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							16.0	16.0	16.0					19																	17918795		2200	4296	6496	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918795C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.179C>T	19.37:g.17918795C>T	ENSP00000321874:p.Pro60Leu					B3GNT3_ENST00000595387.1_Missense_Mutation_p.P60L	p.P60L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	326	+			60					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.179C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661997	0.29515	.	.	ENSG00000179913	ENST00000318683	T	0.27720	1.65	3.76	-1.98	0.07480	.	1.232780	0.05828	U	0.617066	T	0.26412	0.0645	M	0.69185	2.1	0.09310	N	1	P	0.45768	0.866	B	0.35240	0.198	T	0.31138	-0.9954	10	0.42905	T	0.14	.	6.4521	0.21910	0.3322:0.3426:0.3252:0.0	.	60	Q9Y2A9	B3GN3_HUMAN	L	60	ENSP00000321874:P60L	ENSP00000321874:P60L	P	+	2	0	B3GNT3	17779795	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.159000	0.10056	-0.685000	0.05177	-0.534000	0.04291	CCG		0.677	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		8	5	0	0	0	1	0	8	5				
DCC	1630	broad.mit.edu	37	18	50832039	50832039	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:50832039G>A	ENST00000442544.2	+	13	2619	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	DCC_ENST00000581580.1_Missense_Mutation_p.R323K|DCC_ENST00000412726.1_Missense_Mutation_p.R516K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	668	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACGACCCGCAGGGGTGAGATG	0.433																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2002-2004)aGg>aAg		deleted in colorectal carcinoma							88.0	95.0	93.0					18																	50832039		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50832039G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2003G>A	18.37:g.50832039G>A	ENSP00000389140:p.Arg668Lys					DCC_ENST00000412726.1_Missense_Mutation_p.R516K|DCC_ENST00000581580.1_Missense_Mutation_p.R323K	p.R668K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	13	2619	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	668			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2003G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553358	0.65425	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T;T	0.55930	0.49;0.64;0.49	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.20445	0.575	0.47819	D	0.999525	B;B;B	0.17465	0.002;0.001;0.022	B;B;B	0.35413	0.046;0.046;0.202	T	0.24048	-1.0171	10	0.02654	T	1	.	18.7178	0.91682	0.0:0.0:1.0:0.0	.	516;516;668	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	668;601;516	ENSP00000389140:R668K;ENSP00000304146:R601K;ENSP00000397322:R516K	ENSP00000304146:R601K	R	+	2	0	DCC	49086037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.446000	0.80609	2.774000	0.95407	0.655000	0.94253	AGG		0.433	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		19	76	0	0	0	1	0	19	76				
ZNRF3	84133	broad.mit.edu	37	22	29444421	29444421	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29444421C>T	ENST00000544604.2	+	7	1132	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ZNRF3_ENST00000406323.3_Silent_p.C219C|ZNRF3_ENST00000332811.4_Silent_p.C219C|ZNRF3_ENST00000402174.1_Silent_p.C219C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	319					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C219C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACAGGAAGTGCGTGGACCCCT	0.607																																						ENST00000544604.2																			1	Substitution - coding silent(1)	p.C219C(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(955-957)tgC>tgT		zinc and ring finger 3							93.0	109.0	104.0					22																	29444421		2159	4248	6407	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29444421C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.957C>T	22.37:g.29444421C>T						ZNRF3_ENST00000406323.3_Silent_p.C219C|ZNRF3_ENST00000402174.1_Silent_p.C219C|ZNRF3_ENST00000332811.4_Silent_p.C219C	p.C319C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			7	1132	+			319					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.957C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609551	0.28623	.	.	ENSG00000183579	ENST00000462485	.	.	.	5.45	-2.55	0.06288	.	.	.	.	.	T	0.67813	0.2933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72047	-0.4408	5	0.87932	D	0	-12.3639	11.5588	0.50764	0.0:0.2507:0.0:0.7493	.	.	.	.	V	27	.	ENSP00000440667:A27V	A	+	2	0	ZNRF3	27774421	0.821000	0.29204	0.997000	0.53966	0.993000	0.82548	-0.127000	0.10547	-0.154000	0.11118	0.650000	0.86243	GCG		0.607	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		8	15	0	0	0	1	0	8	15				
FGF20	26281	broad.mit.edu	37	8	16850729	16850729	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:16850729C>T	ENST00000180166.5	-	3	636	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	163					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAAATACCTGCGGCCAGTGTC	0.428																																						ENST00000180166.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(487-489)cGc>cAc		fibroblast growth factor 20							161.0	149.0	153.0					8																	16850729		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850729C>T	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.488G>A	8.37:g.16850729C>T	ENSP00000180166:p.Arg163His						p.R163H	NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	636	-			163					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.488G>A	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475694	0.84640	.	.	ENSG00000078579	ENST00000180166	D	0.83163	-1.69	5.85	5.85	0.93711	.	0.232724	0.43919	D	0.000513	D	0.85788	0.5778	M	0.84683	2.71	0.44880	D	0.997897	P	0.48350	0.909	B	0.39027	0.288	D	0.88467	0.3059	10	0.87932	D	0	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	163	Q9NP95	FGF20_HUMAN	H	163	ENSP00000180166:R163H	ENSP00000180166:R163H	R	-	2	0	FGF20	16895100	0.989000	0.36119	0.999000	0.59377	0.998000	0.95712	6.374000	0.73132	2.941000	0.99782	0.655000	0.94253	CGC		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			8	160	0	0	0	1	0	8	160				
KRT13	3860	broad.mit.edu	37	17	39661783	39661783	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39661783C>T	ENST00000246635.3	-	1	66	c.20G>A	c.(19-21)aGc>aAc	p.S7N	KRT13_ENST00000587544.1_Missense_Mutation_p.S7N|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.S7N	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	7	Head.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCAGAGGAGCTCTGCAGGCG	0.612																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(19-21)aGc>aAc		keratin 13							51.0	59.0	56.0					17																	39661783		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661783C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.20G>A	17.37:g.39661783C>T	ENSP00000246635:p.Ser7Asn					KRT13_ENST00000587544.1_Missense_Mutation_p.S7N|KRT13_ENST00000336861.3_Missense_Mutation_p.S7N	p.S7N	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			1	66	-		Breast(137;0.000286)	7			Head.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.20G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519694	0.44866	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.83250	-1.69;-1.7	5.12	-0.85	0.10720	.	0.550750	0.16304	N	0.220327	T	0.70290	0.3207	L	0.38175	1.15	0.24027	N	0.996128	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.58165	-0.7684	10	0.45353	T	0.12	.	6.2613	0.20901	0.0:0.4604:0.2457:0.2939	.	7;7;7	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	N	7	ENSP00000246635:S7N;ENSP00000336604:S7N	ENSP00000157775:S7N	S	-	2	0	KRT13	36915309	0.950000	0.32346	0.960000	0.40013	0.948000	0.59901	0.001000	0.13038	0.052000	0.16007	0.655000	0.94253	AGC		0.612	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		13	25	0	0	0	1	0	13	25				
RPRD2	23248	broad.mit.edu	37	1	150444609	150444609	+	Missense_Mutation	SNP	G	G	A	rs201638526		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150444609G>A	ENST00000369068.4	+	11	3189	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1036H|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1062						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGCACTACCGCATAGAAACC	0.532													G|||	0	0.0	0.0	0.0	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.0					ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(3106-3108)cGc>cAc		regulation of nuclear pre-mRNA domain containing 2							81.0	86.0	84.0					1																	150444609		2064	4199	6263	SO:0001583	missense	23248						protein binding	g.chr1:150444609G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3185G>A	1.37:g.150444609G>A	ENSP00000358064:p.Arg1062His					RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1062H	p.R1036H			Q5VT52	RPRD2_HUMAN			10	3172	+			1062					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3107G>A	CCDS44216.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.62	3.662924	0.67700	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61510	0.1;0.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.58581	0.2132	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.98;0.991	T	0.65573	-0.6135	10	0.87932	D	0	-7.4171	18.138	0.89627	0.0:0.0:1.0:0.0	.	1062;1036	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	H	1036;1062	ENSP00000383785:R1036H;ENSP00000358064:R1062H	ENSP00000358064:R1062H	R	+	2	0	RPRD2	148711233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.413000	0.73308	2.600000	0.87896	0.655000	0.94253	CGC		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		25	49	0	0	0	1	0	25	49				
WFS1	7466	broad.mit.edu	37	4	6302972	6302972	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6302972C>T	ENST00000226760.1	+	8	1620	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	WFS1_ENST00000503569.1_Missense_Mutation_p.L484F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	484					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCTGAAGGTCCTTGGCCAGAC	0.632																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1450-1452)Ctt>Ttt		Wolfram syndrome 1 (wolframin)							107.0	77.0	87.0					4																	6302972		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302972C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1450C>T	4.37:g.6302972C>T	ENSP00000226760:p.Leu484Phe					WFS1_ENST00000503569.1_Missense_Mutation_p.L484F	p.L484F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1620	+			484					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1450C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	c	0.637	-0.815064	0.02776	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90133	-2.62;-2.62	4.77	4.77	0.60923	.	0.291360	0.33772	N	0.004571	D	0.85124	0.5625	L	0.42686	1.345	0.21325	N	0.999721	B	0.21753	0.06	B	0.25291	0.059	T	0.73626	-0.3923	10	0.38643	T	0.18	-12.8893	7.0037	0.24823	0.0:0.8014:0.0:0.1986	.	484	O76024	WFS1_HUMAN	F	484	ENSP00000423337:L484F;ENSP00000226760:L484F	ENSP00000226760:L484F	L	+	1	0	WFS1	6353873	0.766000	0.28496	0.209000	0.23619	0.159000	0.22180	1.490000	0.35573	2.195000	0.70347	0.457000	0.33378	CTT		0.632	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			25	26	0	0	0	1	0	25	26				
C3orf67	200844	broad.mit.edu	37	3	58849269	58849269	+	Intron	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58849269T>C	ENST00000482387.1	-	8	1315				RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Intron|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.I318M|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTACTTCACTTATCAAGCAGT	0.393																																						ENST00000472469.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(952-954)atA>atG		chromosome 3 open reading frame 67							50.0	45.0	47.0					3																	58849269		2203	4300	6503	SO:0001627	intron_variant	200844							g.chr3:58849269T>C	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1218+14A>G	3.37:g.58849269T>C						C3orf67_ENST00000295966.7_Intron|C3orf67_ENST00000482387.1_Intron|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA	p.I318M			Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	11	1792	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	0					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.954A>G		.	.	.	.	.	.	.	.	.	.	T	15.17	2.753596	0.49362	.	.	ENSG00000163689	ENST00000472469	T	0.20463	2.07	5.2	-3.72	0.04411	.	.	.	.	.	T	0.13884	0.0336	.	.	.	0.19775	N	0.999959	B	0.14805	0.011	B	0.13407	0.009	T	0.31861	-0.9928	8	0.87932	D	0	.	7.1143	0.25409	0.0:0.334:0.1247:0.5414	.	318	C9J3M8	.	M	318	ENSP00000417271:I318M	ENSP00000417271:I318M	I	-	3	3	C3orf67	58824309	0.003000	0.15002	0.018000	0.16275	0.950000	0.60333	-0.946000	0.03905	-0.825000	0.04290	-0.242000	0.12053	ATA		0.393	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		7	15	0	0	0	1	0	7	15				
MOV10L1	54456	broad.mit.edu	37	22	50547193	50547193	+	Silent	SNP	C	C	T	rs376950130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50547193C>T	ENST00000262794.5	+	5	746	c.663C>T	c.(661-663)gaC>gaT	p.D221D	MOV10L1_ENST00000545383.1_Silent_p.D221D|MOV10L1_ENST00000395858.3_Silent_p.D221D|MOV10L1_ENST00000540615.1_Silent_p.D201D|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	221					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGAGAGGTGACGTGGTCAATG	0.517																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(661-663)gaC>gaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)			,,	1,4405		0,1,2202	129.0	113.0	118.0		663,603,663	-6.1	0.0	22		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	221/1166,201/1166,221/1212	50547193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50547193C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.663C>T	22.37:g.50547193C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.D221D|MOV10L1_ENST00000545383.1_Silent_p.D221D|MOV10L1_ENST00000540615.1_Silent_p.D201D	p.D221D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	5	746	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	221					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.663C>T	CCDS14084.1																																																																																				0.517	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		26	52	0	0	0	1	0	26	52				
BDP1	55814	broad.mit.edu	37	5	70791091	70791091	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:70791091C>T	ENST00000358731.4	+	12	1918	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	552					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAACAAGATGCCACATCAGTA	0.303																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1654-1656)gCc>gTc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							88.0	78.0	81.0					5																	70791091		1811	4075	5886	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70791091C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1655C>T	5.37:g.70791091C>T	ENSP00000351575:p.Ala552Val					BDP1_ENST00000380675.2_5'UTR	p.A552V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	12	1918	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	552					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.1655C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.179987	0.21787	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.37752	1.18	5.61	-9.07	0.00724	.	0.954942	0.08732	N	0.901896	T	0.12433	0.0302	N	0.13043	0.29	0.09310	N	0.999996	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.004;0.004;0.006	T	0.21895	-1.0232	10	0.13108	T	0.6	.	1.9303	0.03325	0.3704:0.1276:0.0917:0.4103	.	552;552;552	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	V	552;552;132;552	ENSP00000351575:A552V	ENSP00000351575:A552V	A	+	2	0	BDP1	70826847	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.610000	0.01583	-0.137000	0.14449	GCC		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	41	0	0	0	1	0	17	41				
GDPD5	81544	broad.mit.edu	37	11	75155510	75155510	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:75155510G>A	ENST00000336898.3	-	10	1582	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R4W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R130W|GDPD5_ENST00000529721.1_Missense_Mutation_p.R249W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R130W|GDPD5_ENST00000526177.1_Missense_Mutation_p.R111W	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	249	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGGCCTTCCGGAAGGACATG	0.582																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(331-333)Cgg>Tgg		glycerophosphodiester phosphodiesterase domain containing 5							102.0	89.0	93.0					11																	75155510		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75155510G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.745C>T	11.37:g.75155510G>A	ENSP00000337972:p.Arg249Trp					GDPD5_ENST00000533805.1_Missense_Mutation_p.R4W|GDPD5_ENST00000336898.3_Missense_Mutation_p.R249W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R130W|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.R249W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R130W	p.R111W			Q8WTR4	GDPD5_HUMAN			6	2209	-			249					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.331C>T	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030449	0.54790	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.53	3.59	0.41128	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.422418	0.27518	N	0.019012	T	0.51381	0.1671	M	0.88640	2.97	0.80722	D	1	D;D;B	0.71674	0.992;0.998;0.279	P;P;B	0.52856	0.707;0.711;0.019	T	0.62248	-0.6894	10	0.87932	D	0	-41.521	12.7619	0.57370	0.0:0.0:0.6878:0.3122	.	111;130;249	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	W	111;130;249;249;4;130	ENSP00000434050:R111W;ENSP00000437049:R130W;ENSP00000433214:R249W;ENSP00000337972:R249W;ENSP00000435196:R4W;ENSP00000365459:R130W	ENSP00000337972:R249W	R	-	1	2	GDPD5	74833158	0.996000	0.38824	1.000000	0.80357	0.915000	0.54546	1.962000	0.40442	0.756000	0.33013	0.555000	0.69702	CGG		0.582	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		23	42	0	0	0	1	0	23	42				
CEP164	22897	broad.mit.edu	37	11	117282877	117282877	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:117282877G>A	ENST00000278935.3	+	33	4523	c.4376G>A	c.(4375-4377)cGc>cAc	p.R1459H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1459					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGTGTATCGCTTCTGAGGC	0.582																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4375-4377)cGc>cAc		centrosomal protein 164kDa							64.0	57.0	59.0					11																	117282877		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282877G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4376G>A	11.37:g.117282877G>A	ENSP00000278935:p.Arg1459His					CEP164_ENST00000533706.1_3'UTR	p.R1459H	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	33	4523	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1459					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4376G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	3.844	-0.033285	0.07543	.	.	ENSG00000110274	ENST00000278935	T	0.57107	0.42	5.24	-5.71	0.02413	.	0.482216	0.19459	N	0.113745	T	0.25306	0.0615	N	0.04746	-0.17	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.09530	-1.0670	10	0.16420	T	0.52	0.0468	15.5784	0.76410	0.3773:0.0:0.6227:0.0	.	1459;1454	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	H	1459	ENSP00000278935:R1459H	ENSP00000278935:R1459H	R	+	2	0	CEP164	116788087	0.123000	0.22298	0.000000	0.03702	0.005000	0.04900	-0.021000	0.12504	-1.576000	0.01652	-0.345000	0.07892	CGC		0.582	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	34	0	0	0	1	0	5	34				
AKR7A2	8574	broad.mit.edu	37	1	19632609	19632609	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19632609G>A	ENST00000235835.3	-	6	842	c.821C>T	c.(820-822)gCg>gTg	p.A274V	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	274					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACCAACGCAATGGCCTC	0.617																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(820-822)gCg>gTg		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							86.0	79.0	82.0					1																	19632609		2203	4300	6503	SO:0001583	missense	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632609G>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.821C>T	1.37:g.19632609G>A	ENSP00000235835:p.Ala274Val						p.A274V	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	842	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	274					O75749|Q5TG63	Missense_Mutation	SNP	ENST00000235835.3	37	c.821C>T	CCDS194.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678709	0.47886	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.25579	1.79;1.79	3.84	1.92	0.25849	NADP-dependent oxidoreductase domain (3);	0.171939	0.50627	D	0.000113	T	0.19485	0.0468	L	0.58428	1.81	0.27345	N	0.956403	P	0.52577	0.954	B	0.40506	0.331	T	0.13361	-1.0512	10	0.30854	T	0.27	.	4.7249	0.12936	0.1057:0.0:0.5132:0.381	.	274	O43488	ARK72_HUMAN	V	274;229;136	ENSP00000235835:A274V;ENSP00000339084:A229V	ENSP00000235835:A274V	A	-	2	0	AKR7A2	19505196	0.994000	0.37717	0.986000	0.45419	0.922000	0.55478	1.536000	0.36072	0.396000	0.25283	0.561000	0.74099	GCG		0.617	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		6	35	0	0	0	1	0	6	35				
NDUFAF1	51103	broad.mit.edu	37	15	41687179	41687179	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:41687179G>A	ENST00000260361.4	-	3	1018	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	213					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCATCCCCACGTACACGGAGA	0.453																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(637-639)Cgt>Tgt		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1							134.0	106.0	115.0					15																	41687179		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41687179G>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.637C>T	15.37:g.41687179G>A	ENSP00000260361:p.Arg213Cys						p.R213C	NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	3	1018	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	213					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.637C>T	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143564	0.94603	.	.	ENSG00000137806	ENST00000260361	T	0.79554	-1.28	5.63	5.63	0.86233	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.93264	0.6646	10	0.87932	D	0	.	20.1137	0.97918	0.0:0.0:1.0:0.0	.	213	Q9Y375	CIA30_HUMAN	C	213	ENSP00000260361:R213C	ENSP00000260361:R213C	R	-	1	0	NDUFAF1	39474471	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	7.621000	0.83083	2.829000	0.97493	0.551000	0.68910	CGT		0.453	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		14	21	0	0	0	1	0	14	21				
TG	7038	broad.mit.edu	37	8	133920513	133920513	+	Silent	SNP	C	C	T	rs143023529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:133920513C>T	ENST00000220616.4	+	18	3970	c.3930C>T	c.(3928-3930)taC>taT	p.Y1310Y	TG_ENST00000377869.1_Silent_p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1310					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCTGACTACGCGGATTTGC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3928-3930)taC>taT		thyroglobulin		T		1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		3930	2.7	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1310/2769	133920513	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920513C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3930C>T	8.37:g.133920513C>T						TG_ENST00000377869.1_Silent_p.Y1310Y	p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3970	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1310					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3930C>T	CCDS34944.1																																																																																				0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	37	0	0	0	1	0	20	37				
IGDCC3	9543	broad.mit.edu	37	15	65628161	65628161	+	Silent	SNP	C	C	T	rs149026166	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65628161C>T	ENST00000327987.4	-	3	794	c.543G>A	c.(541-543)acG>acA	p.T181T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	181	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCATTGTCCGTGTCAATTG	0.597													C|||	3	0.000599042	0.0	0.0	5008	,	,		21354	0.0		0.0	False		,,,				2504	0.0031					ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(541-543)acG>acA		immunoglobulin superfamily, DCC subclass, member 3		C		1,4401	2.1+/-5.4	0,1,2200	173.0	162.0	166.0		543	-2.8	0.1	15	dbSNP_134	166	8,8590	6.4+/-24.3	0,8,4291	no	coding-synonymous	IGDCC3	NM_004884.3		0,9,6491	TT,TC,CC		0.093,0.0227,0.0692		181/815	65628161	9,12991	2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65628161C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.543G>A	15.37:g.65628161C>T							p.T181T	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			3	794	-			181			Ig-like C2-type 2.		O95215	Silent	SNP	ENST00000327987.4	37	c.543G>A	CCDS10205.1																																																																																				0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		34	57	0	0	0	1	0	34	57				
DHX15	1665	broad.mit.edu	37	4	24578054	24578054	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:24578054C>A	ENST00000336812.4	-	2	475	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	107					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GACGTGTGACCTGCATGTCCG	0.458																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(319-321)Ggt>Tgt		DEAH (Asp-Glu-Ala-His) box helicase 15							301.0	282.0	288.0					4																	24578054		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578054C>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.319G>T	4.37:g.24578054C>A	ENSP00000336741:p.Gly107Cys						p.G107C	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	475	-		Breast(46;0.0503)	107					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.319G>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250636	0.59212	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.09817	2.94	5.43	4.58	0.56647	.	0.106801	0.42053	D	0.000763	T	0.04998	0.0134	N	0.08118	0	0.38387	D	0.945288	D	0.56746	0.977	B	0.36989	0.238	T	0.35226	-0.9797	10	0.59425	D	0.04	-19.5934	10.6151	0.45445	0.0:0.909:0.0:0.091	.	107	O43143	DHX15_HUMAN	C	107;96	ENSP00000336741:G107C	ENSP00000336741:G107C	G	-	1	0	DHX15	24187152	0.997000	0.39634	1.000000	0.80357	0.828000	0.46876	0.979000	0.29500	2.546000	0.85860	0.655000	0.94253	GGT		0.458	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		38	60	1	0	1.30015e-28	1	1.45562e-28	38	60				
MPPED1	758	broad.mit.edu	37	22	43821208	43821208	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43821208G>A	ENST00000417669.2	+	2	661	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	MPPED1_ENST00000443721.1_Missense_Mutation_p.V73M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.V73M|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106M			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	73							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCACCGCATGTGCAGATGTA	0.657																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(217-219)Gtg>Atg		metallophosphoesterase domain containing 1							35.0	38.0	37.0					22																	43821208		2123	4255	6378	SO:0001583	missense	758						hydrolase activity	g.chr22:43821208G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.217G>A	22.37:g.43821208G>A	ENSP00000388137:p.Val73Met					MPPED1_ENST00000443721.1_Missense_Mutation_p.V73M|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.V73M	p.V73M			O15442	MPPD1_HUMAN			2	661	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	73					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.217G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336054	0.81801	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.58506	0.73;0.33;0.73;0.73;0.66	5.2	5.2	0.72013	.	0.145193	0.46758	D	0.000278	T	0.65502	0.2697	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72625	0.978;0.904	T	0.69320	-0.5176	10	0.66056	D	0.02	-29.7645	16.8942	0.86095	0.0:0.0:1.0:0.0	.	106;73	B7Z2S9;O15442	.;MPPD1_HUMAN	M	73;73;73;51;73;73;106	ENSP00000388137:V73M;ENSP00000335568:V73M;ENSP00000400686:V73M;ENSP00000444532:V73M;ENSP00000438335:V106M	ENSP00000335568:V73M	V	+	1	0	MPPED1	42151152	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.205000	0.95048	2.430000	0.82344	0.655000	0.94253	GTG		0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		3	30	0	0	0	1	0	3	30				
SEMA3D	223117	broad.mit.edu	37	7	84628868	84628868	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84628868C>A	ENST00000284136.6	-	17	2265	c.2222G>T	c.(2221-2223)aGa>aTa	p.R741I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	741	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GTTTCTCTGTCTCCGCTTCTC	0.502																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(2221-2223)aGa>aTa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							170.0	143.0	152.0					7																	84628868		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628868C>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2222G>T	7.37:g.84628868C>A	ENSP00000284136:p.Arg741Ile					SEMA3D_ENST00000484038.1_5'UTR	p.R741I	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			17	2265	-			741			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2222G>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295423	0.60086	.	.	ENSG00000153993	ENST00000284136	T	0.33438	1.41	5.93	5.04	0.67666	.	0.357993	0.27851	N	0.017588	T	0.48040	0.1478	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36866	-0.9730	10	0.56958	D	0.05	.	15.5263	0.75910	0.0:0.9328:0.0:0.0672	.	741	O95025	SEM3D_HUMAN	I	741	ENSP00000284136:R741I	ENSP00000284136:R741I	R	-	2	0	SEMA3D	84466804	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.854000	0.48325	2.814000	0.96858	0.655000	0.94253	AGA		0.502	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		8	62	1	0	0.000157383	1	0.000161063	8	62				
HOGA1	112817	broad.mit.edu	37	10	99359467	99359467	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99359467C>A	ENST00000370646.4	+	4	860	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	167					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CCCTGTGGTGCTGTACAGTGT	0.617																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(499-501)Ctg>Atg		4-hydroxy-2-oxoglutarate aldolase 1							91.0	94.0	93.0					10																	99359467		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99359467C>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.499C>A	10.37:g.99359467C>A	ENSP00000359680:p.Leu167Met					HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	p.L167M	NM_138413.3	NP_612422.2					4	860	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.499C>A	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931598	0.73442	.	.	ENSG00000241935	ENST00000370646	D	0.96745	-4.11	5.09	3.14	0.36123	Aldolase-type TIM barrel (1);	0.000000	0.64402	D	0.000001	D	0.97820	0.9284	M	0.85630	2.765	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	D	0.97210	0.9870	10	0.59425	D	0.04	-11.3361	11.0031	0.47618	0.0:0.8395:0.0:0.1605	.	167	Q86XE5	HOGA1_HUMAN	M	167	ENSP00000359680:L167M	ENSP00000359680:L167M	L	+	1	2	HOGA1	99349457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.422000	0.44696	0.468000	0.27243	0.650000	0.86243	CTG		0.617	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		9	106	1	0	0.000274275	1	0.000279654	9	106				
SLC2A5	6518	broad.mit.edu	37	1	9118306	9118306	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9118306G>T	ENST00000377424.4	-	2	216	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.L13M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	13					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGCGTCAGCCTCTGCAGA	0.552																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(37-39)Ctg>Atg		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							71.0	59.0	63.0					1																	9118306		2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9118306G>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.37C>A	1.37:g.9118306G>T	ENSP00000366641:p.Leu13Met					SLC2A5_ENST00000377414.3_Missense_Mutation_p.L13M|SLC2A5_ENST00000535586.1_Intron	p.L13M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	216	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	13					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.37C>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636001	0.47049	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000377414	T;D	0.88354	-1.28;-2.37	5.29	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);	0.555059	0.17666	N	0.166127	D	0.85600	0.5734	L	0.60904	1.88	0.80722	D	1	P;P;P	0.39940	0.696;0.644;0.512	B;B;B	0.38985	0.254;0.287;0.115	D	0.85132	0.0975	10	0.49607	T	0.09	.	8.9668	0.35881	0.0919:0.0:0.7546:0.1535	.	13;13;13	B4DIU4;P22732-2;P22732	.;.;GTR5_HUMAN	M	13	ENSP00000366641:L13M;ENSP00000366631:L13M	ENSP00000366631:L13M	L	-	1	2	SLC2A5	9040893	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.023000	0.41040	2.461000	0.83175	0.491000	0.48974	CTG		0.552	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		12	16	1	0	2.80697e-09	1	2.97546e-09	12	16				
IGKV5-2	28907	broad.mit.edu	37	2	89197299	89197299	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:89197299C>T	ENST00000390244.2	+	0	407									immunoglobulin kappa variable 5-2																		GATAATTTCCCTCTCACAGTG	0.438																																						ENST00000390244.2																			0																				49.0	47.0	48.0					2																	89197299		1888	4085	5973			0							g.chr2:89197299C>T	X02485		2p11.2	2012-02-10			ENSG00000211599	ENSG00000211599		"""Immunoglobulins / IGK locus"""	5835	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV52, B2			OTTHUMG00000151535		2.37:g.89197299C>T														0	407	+									RNA	SNP	ENST00000390244.2	37																																																																																						0.438	IGKV5-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323040.2	NG_000834		16	15	0	0	0	1	0	16	15				
HCN4	10021	broad.mit.edu	37	15	73617515	73617515	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:73617515G>A	ENST00000261917.3	-	6	2752	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	587					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCAGCTTCCGACAGTTAAAG	0.607																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1759-1761)Cgg>Tgg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							117.0	111.0	113.0					15																	73617515		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617515G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1759C>T	15.37:g.73617515G>A	ENSP00000261917:p.Arg587Trp						p.R587W	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	6	2752	-			587					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1759C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400180	0.62177	.	.	ENSG00000138622	ENST00000261917	D	0.96940	-4.18	3.76	2.82	0.32997	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.97807	0.9280	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	P	0.60286	0.872	D	0.97925	1.0317	9	0.87932	D	0	.	12.3377	0.55077	0.0:0.0:0.8296:0.1704	.	587	Q9Y3Q4	HCN4_HUMAN	W	587	ENSP00000261917:R587W	ENSP00000261917:R587W	R	-	1	2	HCN4	71404568	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.454000	0.73493	0.760000	0.33108	0.561000	0.74099	CGG		0.607	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		28	45	0	0	0	1	0	28	45				
IGF1R	3480	broad.mit.edu	37	15	99467887	99467887	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:99467887C>A	ENST00000268035.6	+	13	3367	c.2756C>A	c.(2755-2757)cCt>cAt	p.P919H	IGF1R_ENST00000558762.1_Missense_Mutation_p.P919H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	919	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGGACAGATCCTGTGTTCTTC	0.542																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2755-2757)cCt>cAt		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						118.0	99.0	106.0					15																	99467887		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467887C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2756C>A	15.37:g.99467887C>A	ENSP00000268035:p.Pro919His					IGF1R_ENST00000558762.1_Missense_Mutation_p.P919H	p.P919H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	3367	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		919			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2756C>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263936	0.80358	.	.	ENSG00000140443	ENST00000268035	T	0.56776	0.44	5.66	5.66	0.87406	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.68997	0.3062	M	0.84156	2.68	0.80722	D	1	D;B	0.54397	0.966;0.004	P;B	0.52672	0.706;0.031	T	0.68112	-0.5495	10	0.30854	T	0.27	.	19.7439	0.96243	0.0:1.0:0.0:0.0	.	919;919	C9J5X1;P08069	.;IGF1R_HUMAN	H	919	ENSP00000268035:P919H	ENSP00000268035:P919H	P	+	2	0	IGF1R	97285410	0.999000	0.42202	0.984000	0.44739	0.987000	0.75469	4.812000	0.62613	2.669000	0.90835	0.655000	0.94253	CCT		0.542	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		25	31	1	0	5.45024e-15	1	5.96122e-15	25	31				
MLST8	64223	broad.mit.edu	37	16	2257059	2257059	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2257059G>A	ENST00000569417.1	+	5	722	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MLST8_ENST00000301725.7_Missense_Mutation_p.R142Q|MLST8_ENST00000397124.1_Missense_Mutation_p.R123Q|MLST8_ENST00000565250.1_Missense_Mutation_p.R123Q|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.R123Q|MLST8_ENST00000301724.10_Missense_Mutation_p.R123Q|MLST8_ENST00000382450.4_Missense_Mutation_p.R122Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	123					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CAGTGCCAGCGGATCTTCCAG	0.662																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(367-369)cGg>cAg		MTOR associated protein, LST8 homolog (S. cerevisiae)							54.0	60.0	58.0					16																	2257059		2006	4146	6152	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2257059G>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.368G>A	16.37:g.2257059G>A	ENSP00000456405:p.Arg123Gln					MLST8_ENST00000397124.1_Missense_Mutation_p.R123Q|MLST8_ENST00000564088.1_Missense_Mutation_p.R123Q|MLST8_ENST00000382450.4_Missense_Mutation_p.R122Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.R123Q|MLST8_ENST00000301724.10_Missense_Mutation_p.R123Q|MLST8_ENST00000301725.7_Missense_Mutation_p.R142Q	p.R123Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			5	722	+			123					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.368G>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309252	0.81247	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.59906	0.23;1.03;0.23	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.054326	0.64402	D	0.000001	T	0.72495	0.3467	M	0.76002	2.32	0.58432	D	0.999995	P;P;D	0.56746	0.516;0.89;0.977	B;B;P	0.59595	0.059;0.358;0.86	T	0.75085	-0.3442	10	0.48119	T	0.1	-38.0089	16.4217	0.83760	0.0:0.0:1.0:0.0	.	142;57;123	Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;LST8_HUMAN	Q	123;123;123;142	ENSP00000301724:R123Q;ENSP00000380313:R123Q;ENSP00000301725:R142Q	ENSP00000301724:R123Q	R	+	2	0	MLST8	2197060	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.659000	0.74412	2.205000	0.71048	0.462000	0.41574	CGG		0.662	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		13	64	0	0	0	1	0	13	64				
CLTCL1	8218	broad.mit.edu	37	22	19211575	19211575	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19211575G>T	ENST00000263200.10	-	14	2203	c.2131C>A	c.(2131-2133)Ctc>Atc	p.L711I	CLTCL1_ENST00000353891.5_Missense_Mutation_p.L711I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L711I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	711	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGTAGAAGAGGCCTATGAAG	0.522			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2131-2133)Ctc>Atc		clathrin, heavy chain-like 1							79.0	83.0	82.0					22																	19211575		2036	4180	6216	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19211575G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2131C>A	22.37:g.19211575G>T	ENSP00000445677:p.Leu711Ile					CLTCL1_ENST00000353891.5_Missense_Mutation_p.L711I|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L711I	p.L711I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			14	2203	-	Colorectal(54;0.0993)		711			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2131C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037316	0.75617	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.33216	1.42;1.42;1.42	3.51	3.51	0.40186	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000010	T	0.55545	0.1927	M	0.76938	2.355	0.58432	D	0.999998	D;D	0.65815	0.995;0.964	D;D	0.72338	0.977;0.939	T	0.63102	-0.6712	10	0.56958	D	0.05	-11.6597	15.5588	0.76223	0.0:0.0:1.0:0.0	.	711;711	P53675-2;P53675	.;CLH2_HUMAN	I	711	ENSP00000439662:L711I;ENSP00000445677:L711I;ENSP00000441158:L711I	ENSP00000445677:L711I	L	-	1	0	CLTCL1	17591575	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.440000	0.52886	1.966000	0.57179	0.467000	0.42956	CTC		0.522	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		15	16	1	0	1.99824e-07	1	2.09433e-07	15	16				
ZMIZ2	83637	broad.mit.edu	37	7	44800044	44800044	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44800044C>T	ENST00000309315.4	+	9	1215	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	ZMIZ2_ENST00000441627.1_Silent_p.G364G|ZMIZ2_ENST00000265346.7_Silent_p.G338G|ZMIZ2_ENST00000433667.1_Silent_p.G332G|ZMIZ2_ENST00000413916.1_Silent_p.G306G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	364	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCATCCCGGGCTATCCCAGTT	0.597																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1090-1092)ggC>ggT		zinc finger, MIZ-type containing 2							117.0	131.0	126.0					7																	44800044		2113	4239	6352	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44800044C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1092C>T	7.37:g.44800044C>T						ZMIZ2_ENST00000433667.1_Silent_p.G332G|ZMIZ2_ENST00000441627.1_Silent_p.G364G|ZMIZ2_ENST00000413916.1_Silent_p.G306G|ZMIZ2_ENST00000265346.7_Silent_p.G338G	p.G364G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			9	1215	+			364			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1092C>T	CCDS43576.1																																																																																				0.597	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		10	24	0	0	0	1	0	10	24				
ERBB2	2064	broad.mit.edu	37	17	37881050	37881050	+	Silent	SNP	G	G	A	rs186232310	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37881050G>A	ENST00000269571.5	+	20	2538	c.2379G>A	c.(2377-2379)acG>acA	p.T793T	ERBB2_ENST00000541774.1_Silent_p.T778T|ERBB2_ENST00000445658.2_Silent_p.T517T|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Silent_p.T763T|ERBB2_ENST00000540147.1_Silent_p.T763T|ERBB2_ENST00000406381.2_Silent_p.T763T|ERBB2_ENST00000584450.1_Silent_p.T793T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.T793T(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGACATCCACGGTGCAGCTGG	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			G|||	10	0.00199681	0.0	0.0	5008	,	,		18425	0.0099		0.0	False		,,,				2504	0.0					ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		1	Substitution - coding silent(1)	p.T793T(1)	liver(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2287-2289)acG>acA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						85.0	80.0	81.0					17																	37881050		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881050G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2379G>A	17.37:g.37881050G>A		TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Silent_p.T517T|ERBB2_ENST00000269571.5_Silent_p.T793T|ERBB2_ENST00000584601.1_Silent_p.T763T|ERBB2_ENST00000541774.1_Silent_p.T778T|ERBB2_ENST00000584450.1_Silent_p.T793T|ERBB2_ENST00000540147.1_Silent_p.T763T	p.T763T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	2799	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	793			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2289G>A	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			21	31	0	0	0	1	0	21	31				
TSHZ1	10194	broad.mit.edu	37	18	72998132	72998132	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72998132C>T	ENST00000580243.1	+	2	1118	c.770C>T	c.(769-771)aCg>aTg	p.T257M	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T212M			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	257					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCGTACGACACGCTGGTGGAA	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(634-636)aCg>aTg		teashirt zinc finger homeobox 1							86.0	68.0	74.0					18																	72998132		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998132C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.770C>T	18.37:g.72998132C>T	ENSP00000464391:p.Thr257Met					TSHZ1_ENST00000580243.1_Missense_Mutation_p.T257M	p.T212M	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1219	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	257					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.635C>T		.	.	.	.	.	.	.	.	.	.	C	11.69	1.713543	0.30413	.	.	ENSG00000179981	ENST00000322038	T	0.14391	2.51	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.68952	2.095	0.32418	N	0.549754	D	0.89917	1.0	D	0.79108	0.992	T	0.53401	-0.8444	10	0.87932	D	0	-26.1025	19.2229	0.93805	0.0:1.0:0.0:0.0	.	257	Q6ZSZ6	TSH1_HUMAN	M	212	ENSP00000323584:T212M	ENSP00000323584:T212M	T	+	2	0	TSHZ1	71127120	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.484000	0.81180	-0.205000	0.10219	-0.794000	0.03295	ACG		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		9	18	0	0	0	1	0	9	18				
TBCD	6904	broad.mit.edu	37	17	80885101	80885101	+	Silent	SNP	C	C	T	rs371243313		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80885101C>T	ENST00000355528.4	+	29	2641	c.2511C>T	c.(2509-2511)gaC>gaT	p.D837D	TBCD_ENST00000539345.2_Silent_p.D837D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	837					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAGCCCCAGACGAAGCTGTGT	0.527																																						ENST00000355528.4																			0											c.(2509-2511)gaC>gaT		tubulin folding cofactor D							89.0	96.0	94.0					17																	80885101		2091	4193	6284	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885101C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2511C>T	17.37:g.80885101C>T						TBCD_ENST00000539345.2_Silent_p.D837D	p.D837D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		29	2641	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	837					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.2511C>T	CCDS45818.1																																																																																				0.527	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		16	14	0	0	0	1	0	16	14				
RYR3	6263	broad.mit.edu	37	15	34130191	34130191	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34130191C>T	ENST00000389232.4	+	89	12080	c.12010C>T	c.(12010-12012)Cac>Tac	p.H4004Y	RYR3_ENST00000415757.3_Missense_Mutation_p.H3999Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4004					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTTCTGAACACATGCCAAA	0.453																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12010-12012)Cac>Tac		ryanodine receptor 3							122.0	122.0	122.0					15																	34130191		1962	4149	6111	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130191C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12010C>T	15.37:g.34130191C>T	ENSP00000373884:p.His4004Tyr					RYR3_ENST00000415757.3_Missense_Mutation_p.H3999Y	p.H4004Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12080	+		all_lung(180;7.18e-09)	4004					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12010C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837333	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.99277	-5.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.72625	0.971;0.978	D	0.99421	1.0933	10	0.87932	D	0	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	3999;4004	Q15413-2;Q15413	.;RYR3_HUMAN	Y	4004;4000	ENSP00000373884:H4004Y	ENSP00000354735:H4000Y	H	+	1	0	RYR3	31917483	1.000000	0.71417	0.984000	0.44739	0.971000	0.66376	7.554000	0.82212	2.737000	0.93849	0.551000	0.68910	CAC		0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			41	78	0	0	0	1	0	41	78				
OR5AS1	219447	broad.mit.edu	37	11	55798489	55798489	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55798489C>T	ENST00000313555.1	+	1	595	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCAGCTTCTGCTCTTTGCTTT	0.423																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(595-597)Ctc>Ttc		olfactory receptor, family 5, subfamily AS, member 1							312.0	310.0	311.0					11																	55798489		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798489C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.595C>T	11.37:g.55798489C>T	ENSP00000324111:p.Leu199Phe						p.L199F	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	595	+	Esophageal squamous(21;0.00693)		199					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.595C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166926	0.57476	.	.	ENSG00000181785	ENST00000313555	T	0.00220	8.52	5.23	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31697	U	0.007211	T	0.00440	0.0014	M	0.74389	2.26	0.27805	N	0.942347	D	0.71674	0.998	D	0.70016	0.967	T	0.43686	-0.9376	10	0.62326	D	0.03	.	8.4969	0.33134	0.0:0.826:0.0:0.174	.	199	Q8N127	O5AS1_HUMAN	F	199	ENSP00000324111:L199F	ENSP00000324111:L199F	L	+	1	0	OR5AS1	55555065	0.000000	0.05858	1.000000	0.80357	0.901000	0.52897	-0.406000	0.07187	2.439000	0.82584	0.643000	0.83706	CTC		0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		88	131	0	0	0	1	0	88	131				
TPCN1	53373	broad.mit.edu	37	12	113664740	113664740	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113664740G>A	ENST00000335509.6	+	2	397	c.83G>A	c.(82-84)gGc>gAc	p.G28D	TPCN1_ENST00000541517.1_Missense_Mutation_p.G100D|TPCN1_ENST00000550785.1_Missense_Mutation_p.G100D	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	28					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCTCCAACGGCCTGGGCCAA	0.577																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(298-300)gGc>gAc		two pore segment channel 1							52.0	47.0	48.0					12																	113664740		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113664740G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.83G>A	12.37:g.113664740G>A	ENSP00000335300:p.Gly28Asp					TPCN1_ENST00000541517.1_Missense_Mutation_p.G100D|TPCN1_ENST00000335509.6_Missense_Mutation_p.G28D	p.G100D	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			3	468	+			28					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.299G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574645	0.28092	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.88	2.99	0.34606	.	1.392310	0.04179	N	0.326187	T	0.37598	0.1009	L	0.51422	1.61	0.32218	N	0.575612	B;B	0.19200	0.034;0.008	B;B	0.22601	0.04;0.011	T	0.38023	-0.9680	10	0.13108	T	0.6	-0.0035	6.8591	0.24058	0.0967:0.1775:0.7258:0.0	.	100;28	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	D	83;114;28;100;28;28;100;28;100	ENSP00000449560:G83D;ENSP00000447569:G114D;ENSP00000447073:G28D;ENSP00000447263:G100D;ENSP00000335300:G28D;ENSP00000448083:G100D;ENSP00000438125:G100D	ENSP00000335300:G28D	G	+	2	0	TPCN1	112149123	0.786000	0.28738	0.851000	0.33527	0.674000	0.39518	1.084000	0.30828	1.260000	0.44134	0.462000	0.41574	GGC		0.577	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		10	15	0	0	0	1	0	10	15				
KANSL1L	151050	broad.mit.edu	37	2	210896182	210896182	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:210896182C>A	ENST00000281772.9	-	9	2381	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Intron|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	706						histone acetyltransferase complex (GO:0000123)											TCTTTCTTCCCTGTAACAGTT	0.308																																						ENST00000281772.9																			0											c.(2116-2118)caG>caT		KAT8 regulatory NSL complex subunit 1-like							187.0	186.0	186.0					2																	210896182		2202	4299	6501	SO:0001583	missense	151050							g.chr2:210896182C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2118G>T	2.37:g.210896182C>A	ENSP00000281772:p.Gln706His					KANSL1L_ENST00000418791.1_Intron|AC007038.7_ENST00000452057.1_RNA	p.Q706H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			9	2381	-			706					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2118G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076878	0.55753	.	.	ENSG00000144445	ENST00000281772	.	.	.	5.23	3.42	0.39159	.	0.160250	0.28700	N	0.014439	T	0.65719	0.2718	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	D	0.78314	0.991	T	0.62637	-0.6812	9	0.35671	T	0.21	.	6.9442	0.24510	0.0:0.7972:0.0:0.2028	.	706	A0AUZ9	CB067_HUMAN	H	706	.	ENSP00000281772:Q706H	Q	-	3	2	C2orf67	210604427	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.239000	0.18023	1.211000	0.43351	0.557000	0.71058	CAG		0.308	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	68	1	0	5.18039e-06	1	5.37127e-06	8	68				
ME1	4199	broad.mit.edu	37	6	83949258	83949258	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83949258C>A	ENST00000369705.3	-	8	1028	c.912G>T	c.(910-912)gaG>gaT	p.E304D	ME1_ENST00000541327.1_Splice_Site_p.E138D|ME1_ENST00000543031.1_Splice_Site_p.E229D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	304					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AGGCAAATACCTCTCCAGCTC	0.363																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e8+1		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						151.0	143.0	146.0					6																	83949258		2203	4300	6503	SO:0001630	splice_region_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83949258C>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.912+1G>T	6.37:g.83949258C>A						ME1_ENST00000543031.1_Splice_Site_p.E229_splice|ME1_ENST00000541327.1_Splice_Site_p.E138_splice	p.E304_splice	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	8	1028	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	304					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Splice_Site	SNP	ENST00000369705.3	37	c.912_splice	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144971	0.94603	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.31247	1.5;1.5;1.5	5.66	5.66	0.87406	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	H	0.96662	3.86	0.80722	D	1	P	0.52692	0.955	P	0.59424	0.857	T	0.76066	-0.3095	9	.	.	.	-18.6096	18.5012	0.90882	0.0:1.0:0.0:0.0	.	304	P48163	MAOX_HUMAN	D	304;138;229	ENSP00000358719:E304D;ENSP00000439912:E138D;ENSP00000446114:E229D	.	E	-	3	2	ME1	84005977	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.464000	0.66719	2.658000	0.90341	0.650000	0.86243	GAG		0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		Missense_Mutation	20	30	1	0	6.33239e-15	1	6.92311e-15	20	30				
MACF1	23499	broad.mit.edu	37	1	39827169	39827169	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:39827169C>T	ENST00000372915.3	+	48	12693	c.12606C>T	c.(12604-12606)ttC>ttT	p.F4202F	MACF1_ENST00000564288.1_Silent_p.F4197F|MACF1_ENST00000289893.4_Silent_p.F2637F|MACF1_ENST00000539005.1_Silent_p.F2135F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.F2135F|MACF1_ENST00000567887.1_Silent_p.F4234F|MACF1_ENST00000317713.7_Silent_p.F2135F|MACF1_ENST00000361689.2_Silent_p.F2135F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4202					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAGCGGTTCGAACAGCTCT	0.547																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12589-12591)ttC>ttT		microtubule-actin crosslinking factor 1							82.0	81.0	81.0					1																	39827169		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39827169C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12606C>T	1.37:g.39827169C>T						MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Silent_p.F4234F|MACF1_ENST00000539005.1_Silent_p.F2135F|MACF1_ENST00000372915.3_Silent_p.F4202F|MACF1_ENST00000361689.2_Silent_p.F2135F|MACF1_ENST00000317713.7_Silent_p.F2135F|MACF1_ENST00000289893.4_Silent_p.F2637F|MACF1_ENST00000545844.1_Silent_p.F2135F	p.F4197F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		49	13368	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4202					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.12591C>T		.	.	.	.	.	.	.	.	.	.	C	4.553	0.102623	0.08731	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.04	-3.78	0.04333	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3667	0.74529	0.0:0.315:0.0:0.685	.	.	.	.	X	1269	.	.	R	+	1	2	MACF1	39599756	0.000000	0.05858	0.004000	0.12327	0.638000	0.38207	-1.288000	0.02783	-0.741000	0.04797	0.563000	0.77884	CGA		0.547	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	32	0	0	0	1	0	21	32				
CHAT	1103	broad.mit.edu	37	10	50857557	50857557	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50857557G>A	ENST00000337653.2	+	10	1539	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	CHAT_ENST00000395562.2_Silent_p.T380T|CHAT_ENST00000455728.2_Silent_p.T344T|CHAT_ENST00000339797.1_Silent_p.T344T|CHAT_ENST00000351556.3_Silent_p.T344T|CHAT_ENST00000395559.2_Silent_p.T344T	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	462					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCCGCAGGACGCAGAGCAGCA	0.607																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1138-1140)acG>acA		choline O-acetyltransferase	Choline(DB00122)						35.0	42.0	39.0					10																	50857557		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857557G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1386G>A	10.37:g.50857557G>A						CHAT_ENST00000395559.2_Silent_p.T344T|CHAT_ENST00000337653.2_Silent_p.T462T|CHAT_ENST00000339797.1_Silent_p.T344T|CHAT_ENST00000351556.3_Silent_p.T344T|CHAT_ENST00000455728.2_Silent_p.T344T	p.T380T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	11	1609	+		all_neural(218;0.107)	462					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1140G>A	CCDS7232.1																																																																																				0.607	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		12	29	0	0	0	1	0	12	29				
TCF3	6929	broad.mit.edu	37	19	1612209	1612209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1612209G>A	ENST00000344749.5	-	18	1876	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	TCF3_ENST00000453954.2_Nonsense_Mutation_p.R519*|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Nonsense_Mutation_p.R604*|TCF3_ENST00000262965.5_Intron	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		AGCCTACCTCGCACCTGCTGC	0.672			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000344749.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1810-1812)Cga>Tga		transcription factor 3							34.0	31.0	32.0					19																	1612209		1567	3582	5149	SO:0001587	stop_gained	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1612209G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1810C>T	19.37:g.1612209G>A	ENSP00000344375:p.Arg604*					TCF3_ENST00000262965.5_Intron|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Nonsense_Mutation_p.R604*|TCF3_ENST00000453954.2_Nonsense_Mutation_p.R519*	p.R604*	NM_001136139.2	NP_001129611.1	P15923	TFE2_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)	18	1876	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	607			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	ENST00000344749.5	37	c.1810C>T	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	G	39	7.348219	0.98228	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	.	.	.	4.8	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3096	0.54922	0.0825:0.0:0.9175:0.0	.	.	.	.	X	604	.	ENSP00000344375:R604X	R	-	1	2	TCF3	1563209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.587000	0.98229	1.148000	0.42385	0.561000	0.74099	CGA		0.672	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1	NM_003200		8	8	0	0	0	1	0	8	8				
C2orf47	79568	broad.mit.edu	37	2	200828502	200828502	+	Missense_Mutation	SNP	G	G	A	rs140885188		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:200828502G>A	ENST00000392290.1	+	5	1040	c.844G>A	c.(844-846)Gca>Aca	p.A282T	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000295079.2_Missense_Mutation_p.A282T			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	282						mitochondrion (GO:0005739)		p.A282S(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						CTGGACCATTGCACGGATTGA	0.353																																						ENST00000295079.2																			1	Substitution - Missense(1)	p.A282S(1)	endometrium(1)	cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(844-846)Gca>Aca		chromosome 2 open reading frame 47							91.0	86.0	88.0					2																	200828502		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200828502G>A	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.844G>A	2.37:g.200828502G>A	ENSP00000376111:p.Ala282Thr					C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Missense_Mutation_p.A282T	p.A282T	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			6	1166	+			282					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.844G>A	CCDS2329.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327159	0.10900	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.37058	1.22;1.22	6.05	0.792	0.18625	.	0.245289	0.40469	N	0.001096	T	0.13543	0.0328	N	0.12182	0.205	0.31083	N	0.711744	B	0.16396	0.017	B	0.15484	0.013	T	0.35051	-0.9804	10	0.02654	T	1	-3.3578	5.386	0.16218	0.1966:0.0:0.2452:0.5582	.	282	Q8WWC4	CB047_HUMAN	T	282	ENSP00000295079:A282T;ENSP00000376111:A282T	ENSP00000295079:A282T	A	+	1	0	C2orf47	200536747	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.961000	0.49168	0.118000	0.18165	-0.175000	0.13238	GCA		0.353	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		15	25	0	0	0	1	0	15	25				
FASN	2194	broad.mit.edu	37	17	80046115	80046115	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:80046115C>T	ENST00000306749.2	-	17	2880	c.2662G>A	c.(2662-2664)Gcc>Acc	p.A888T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	888					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TAGCCAGTGGCGGGGAAGAGG	0.662																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2662-2664)Gcc>Acc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						41.0	56.0	51.0					17																	80046115		2200	4291	6491	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046115C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2662G>A	17.37:g.80046115C>T	ENSP00000304592:p.Ala888Thr						p.A888T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2880	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		888					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2662G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651975	0.67472	.	.	ENSG00000169710	ENST00000306749	D	0.82433	-1.61	4.08	4.08	0.47627	.	0.137542	0.47852	D	0.000201	D	0.90448	0.7009	M	0.89414	3.03	0.58432	D	0.999996	D	0.71674	0.998	P	0.56563	0.801	D	0.92852	0.6298	10	0.72032	D	0.01	-12.5043	16.4376	0.83882	0.0:1.0:0.0:0.0	.	888	P49327	FAS_HUMAN	T	888	ENSP00000304592:A888T	ENSP00000304592:A888T	A	-	1	0	FASN	77639404	1.000000	0.71417	0.202000	0.23494	0.039000	0.13416	5.778000	0.68940	2.120000	0.65058	0.462000	0.41574	GCC		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	22	0	0	0	1	0	8	22				
PPIP5K2	23262	broad.mit.edu	37	5	102490635	102490635	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102490635C>T	ENST00000358359.3	+	13	1900	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.T464I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.T464I	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	464					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAACTTAAGACTGTATTAGAG	0.323																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1390-1392)aCt>aTt		diphosphoinositol pentakisphosphate kinase 2							73.0	73.0	73.0					5																	102490635		2203	4298	6501	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102490635C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1391C>T	5.37:g.102490635C>T	ENSP00000351126:p.Thr464Ile					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.T464I|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.T464I	p.T464I			O43314	VIP2_HUMAN			13	1964	+			464					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1391C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.964545	0.74131	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	T	0.44052	0.1275	L	0.50333	1.59	0.80722	D	1	B;B;P	0.40211	0.302;0.055;0.707	B;B;P	0.49421	0.275;0.061;0.61	T	0.38585	-0.9654	10	0.72032	D	0.01	.	18.8932	0.92413	0.0:1.0:0.0:0.0	.	386;464;464	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	I	464;386;464;464;464	ENSP00000313070:T464I;ENSP00000422525:T386I;ENSP00000351126:T464I;ENSP00000416016:T464I	ENSP00000313070:T464I	T	+	2	0	PPIP5K2	102518534	1.000000	0.71417	0.991000	0.47740	0.701000	0.40568	4.898000	0.63238	2.523000	0.85059	0.655000	0.94253	ACT		0.323	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		23	36	0	0	0	1	0	23	36				
TYK2	7297	broad.mit.edu	37	19	10478977	10478977	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10478977C>T	ENST00000525621.1	-	4	792	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000264818.6_Missense_Mutation_p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R104L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACCTTATGCGGAAATATAG	0.552																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R104L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(310-312)cGc>cAc		tyrosine kinase 2							158.0	141.0	147.0					19																	10478977		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478977C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.311G>A	19.37:g.10478977C>T	ENSP00000431885:p.Arg104His					TYK2_ENST00000264818.6_Missense_Mutation_p.R104H|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000524462.1_Intron	p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	792	-			104			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.311G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735436	0.89482	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.49916	D	0.000133	D	0.88217	0.6377	M	0.83774	2.66	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.89834	0.3998	10	0.87932	D	0	-41.1729	13.8262	0.63352	0.0:1.0:0.0:0.0	.	104;104	E9PPF2;P29597	.;TYK2_HUMAN	H	104	ENSP00000431885:R104H;ENSP00000264818:R104H;ENSP00000432728:R104H;ENSP00000436175:R104H	ENSP00000264818:R104H	R	-	2	0	TYK2	10339977	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.387000	0.73191	2.325000	0.78763	0.544000	0.68410	CGC		0.552	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			39	44	0	0	0	1	0	39	44				
MIEF2	125170	broad.mit.edu	37	17	18167383	18167383	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18167383G>A	ENST00000323019.4	+	4	881	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	MIEF2_ENST00000395706.2_Missense_Mutation_p.A235T|MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Missense_Mutation_p.G199D	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	224					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TCGCTGCTGGGCCGTGCGCAG	0.711																																						ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(670-672)Gcc>Acc									8.0	7.0	7.0					17																	18167383		2142	4229	6371	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167383G>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.670G>A	17.37:g.18167383G>A	ENSP00000323591:p.Ala224Thr					SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.A235T|SMCR7_ENST00000395704.4_Missense_Mutation_p.G199D	p.A224T	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	881	+	all_neural(463;0.228)		224					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.670G>A	CCDS11193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044333|2.044333	0.36085|0.36085	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000323019;ENST00000395706|ENST00000395704	T;T|T	0.11712|0.38401	2.75;2.75|1.14	5.32|5.32	3.31|3.31	0.37934|0.37934	.|.	0.140660|.	0.64402|.	D|.	0.000010|.	T|T	0.23727|0.23727	0.0574|0.0574	.|.	.|.	.|.	0.35748|0.35748	D|D	0.819236|0.819236	P|B	0.44734|0.18013	0.842|0.025	B|B	0.36922|0.18561	0.236|0.022	T|T	0.36114|0.36114	-0.9761|-0.9761	9|8	0.72032|0.87932	D|D	0.01|0	-18.9471|-18.9471	0.8442|0.8442	0.01157|0.01157	0.2081:0.1999:0.3871:0.2049|0.2081:0.1999:0.3871:0.2049	.|.	224|199	Q96C03|Q96C03-2	MID49_HUMAN|.	T|D	224;235|199	ENSP00000323591:A224T;ENSP00000379057:A235T|ENSP00000379056:G199D	ENSP00000323591:A224T|ENSP00000379056:G199D	A|G	+|+	1|2	0|0	SMCR7|SMCR7	18108108|18108108	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.941000|0.941000	0.58515|0.58515	2.150000|2.150000	0.42254|0.42254	1.219000|1.219000	0.43474|0.43474	-0.311000|-0.311000	0.09066|0.09066	GCC|GGC		0.711	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	2	0	0	0	1	0	4	2				
SLC46A1	113235	broad.mit.edu	37	17	26722947	26722947	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26722947C>T	ENST00000440501.1	-	0	5200				SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_Silent_p.C615C|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CTTTAAGCTGCGGCAAGAACA	0.537																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1843-1845)tgC>tgT		sterile alpha and TIR motif containing 1							90.0	84.0	86.0					17																	26722947		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26722947C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3725G>A	17.37:g.26722947C>T						SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000379061.4_3'UTR|SLC46A1_ENST00000321666.5_3'UTR|SLC46A1_ENST00000440501.1_3'UTR	p.C615C	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	8	2316	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		649			TIR.		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.1845C>T																																																																																					0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		26	39	0	0	0	1	0	26	39				
SSH2	85464	broad.mit.edu	37	17	27958229	27958229	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27958229G>A	ENST00000269033.3	-	15	4053	c.3902C>T	c.(3901-3903)gCg>gTg	p.A1301V	SSH2_ENST00000540801.1_Missense_Mutation_p.A1328V|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1301					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCTCCATCGCGTGCATGCC	0.522																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3901-3903)gCg>gTg		slingshot protein phosphatase 2							79.0	74.0	75.0					17																	27958229		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958229G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3902C>T	17.37:g.27958229G>A	ENSP00000269033:p.Ala1301Val					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.A1328V	p.A1301V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4053	-			1301					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3902C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	7.148	0.583128	0.13749	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.43294	0.95;0.95	5.96	3.37	0.38596	.	1.209730	0.05596	N	0.575434	T	0.35278	0.0926	L	0.47716	1.5	0.09310	N	1	B;B	0.18968	0.032;0.019	B;B	0.13407	0.009;0.004	T	0.22626	-1.0211	10	0.44086	T	0.13	-0.0843	3.9538	0.09380	0.1329:0.2111:0.53:0.126	.	1328;1301	F5H527;Q76I76	.;SSH2_HUMAN	V	1301;1328	ENSP00000269033:A1301V;ENSP00000444743:A1328V	ENSP00000269033:A1301V	A	-	2	0	SSH2	24982355	0.001000	0.12720	0.028000	0.17463	0.023000	0.10783	0.914000	0.28624	2.833000	0.97629	0.655000	0.94253	GCG		0.522	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		22	40	0	0	0	1	0	22	40				
IWS1	55677	broad.mit.edu	37	2	128262295	128262295	+	Missense_Mutation	SNP	G	G	T	rs541513565		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128262295G>T	ENST00000295321.4	-	3	1443	c.1184C>A	c.(1183-1185)gCt>gAt	p.A395D	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.A402D|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	395	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGAAAGCACAGCAGCTTTTCT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21623	0.0		0.0	False		,,,				2504	0.001					ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1183-1185)gCt>gAt		IWS1 homolog (S. cerevisiae)							270.0	269.0	269.0					2																	128262295		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262295G>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1184C>A	2.37:g.128262295G>T	ENSP00000295321:p.Ala395Asp					IWS1_ENST00000455721.2_Missense_Mutation_p.A402D|AC010976.2_ENST00000599001.1_RNA	p.A395D	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1443	-	Colorectal(110;0.1)		395			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1184C>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959546	0.34565	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.58506	1.34;0.33	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	M	0.61703	1.905	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.65932	-0.6048	10	0.12430	T	0.62	-20.4889	19.1198	0.93358	0.0:0.0:1.0:0.0	.	395	Q96ST2	IWS1_HUMAN	D	395;348;402	ENSP00000295321:A395D;ENSP00000399245:A402D	ENSP00000295321:A395D	A	-	2	0	IWS1	127978765	0.990000	0.36364	0.970000	0.41538	0.001000	0.01503	4.567000	0.60850	2.511000	0.84671	0.563000	0.77884	GCT		0.398	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		46	100	1	0	1.62263e-30	1	1.81924e-30	46	100				
PCDHB2	56133	broad.mit.edu	37	5	140475758	140475758	+	Missense_Mutation	SNP	G	G	A	rs368304890		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140475758G>A	ENST00000194155.4	+	1	1532	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1384-1386)Gtc>Atc									85.0	85.0	85.0					5																	140475758		2203	4296	6499	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475758G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1384G>A	5.37:g.140475758G>A	ENSP00000194155:p.Val462Ile						p.V462I	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1532	+			462			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1384G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	6.470	0.454811	0.12283	.	.	ENSG00000112852	ENST00000194155	T	0.53857	0.6	5.11	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27798	0.0684	N	0.20445	0.575	0.09310	N	1	P	0.49090	0.919	B	0.37480	0.251	T	0.08027	-1.0742	9	0.25106	T	0.35	.	3.0966	0.06312	0.1593:0.2428:0.4739:0.124	.	462	Q9Y5E7	PCDB2_HUMAN	I	462	ENSP00000194155:V462I	ENSP00000194155:V462I	V	+	1	0	PCDHB2	140455942	0.015000	0.18098	0.334000	0.25495	0.286000	0.27126	0.141000	0.16076	0.519000	0.28406	0.650000	0.86243	GTC		0.637	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		13	118	0	0	0	1	0	13	118				
METTL21A	151194	broad.mit.edu	37	2	208478148	208478148	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:208478148C>T	ENST00000411432.1	-	4	495	c.279G>A	c.(277-279)acG>acA	p.T93T	METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000426075.1_Silent_p.T93T|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Silent_p.T93T|METTL21A_ENST00000272839.3_Silent_p.T111T|METTL21A_ENST00000448007.2_Silent_p.T93T|METTL21A_ENST00000406927.2_Silent_p.T93T|METTL21A_ENST00000448823.2_3'UTR	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	93					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTTTTCGATCCGTGATAGTCA	0.388																																						ENST00000411432.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(277-279)acG>acA		methyltransferase like 21A							69.0	62.0	65.0					2																	208478148		2203	4300	6503	SO:0001819	synonymous_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208478148C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.279G>A	2.37:g.208478148C>T						METTL21A_ENST00000426075.1_Silent_p.T93T|METTL21A_ENST00000272839.3_Silent_p.T111T|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000442521.1_Silent_p.T93T|METTL21A_ENST00000406927.2_Silent_p.T93T|METTL21A_ENST00000448007.2_Silent_p.T93T|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000458426.1_Intron	p.T93T	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			4	495	-			93					Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	ENST00000411432.1	37	c.279G>A	CCDS2376.1																																																																																				0.388	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		19	39	0	0	0	1	0	19	39				
EFR3A	23167	broad.mit.edu	37	8	132962330	132962330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:132962330C>T	ENST00000254624.5	+	5	706	c.481C>T	c.(481-483)Cga>Tga	p.R161*	EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R161*|EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R125*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	161						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCCAGAAATACGAACAGAGTA	0.318																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(481-483)Cga>Tga		EFR3 homolog A (S. cerevisiae)							91.0	77.0	82.0					8																	132962330		2202	4300	6502	SO:0001587	stop_gained	23167					plasma membrane	binding	g.chr8:132962330C>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.481C>T	8.37:g.132962330C>T	ENSP00000254624:p.Arg161*					EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R161*|EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R125*	p.R161*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	706	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		161					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Nonsense_Mutation	SNP	ENST00000254624.5	37	c.481C>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	C	38	7.214874	0.98139	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.7	4.8	0.61643	.	0.270692	0.35466	N	0.003192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.532	14.8922	0.70617	0.1444:0.8556:0.0:0.0	.	.	.	.	X	161;125;161;161;125	.	ENSP00000254624:R161X	R	+	1	2	EFR3A	133031512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.382000	0.34374	1.336000	0.45506	0.557000	0.71058	CGA		0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		3	11	0	0	0	1	0	3	11				
OBSCN	84033	broad.mit.edu	37	1	228462350	228462350	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228462350G>A	ENST00000422127.1	+	20	5805	c.5761G>A	c.(5761-5763)Gtg>Atg	p.V1921M	RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2296M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1921M|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.V768M|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1921	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTTCCAGTGCGTGGTGTCCCC	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6886-6888)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							43.0	60.0	54.0					1																	228462350		2143	4237	6380	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462350G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5761G>A	1.37:g.228462350G>A	ENSP00000409493:p.Val1921Met					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.V768M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1921M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1921M	p.V2296M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	6960	+		Prostate(94;0.0405)	1281			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6886G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830675	0.50845	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69561	-0.41;-0.41;-0.41	5.71	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.176947	0.37348	N	0.002123	T	0.76285	0.3966	M	0.63843	1.955	0.31247	N	0.694444	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.868	T	0.77963	-0.2390	10	0.46703	T	0.11	.	11.2401	0.48964	0.1575:0.0:0.8425:0.0	.	1921;1921	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1921;1921;768	ENSP00000284548:V1921M;ENSP00000409493:V1921M;ENSP00000352613:V768M	ENSP00000284548:V1921M	V	+	1	0	OBSCN	226528973	0.003000	0.15002	0.771000	0.31576	0.499000	0.33736	1.449000	0.35123	1.427000	0.47276	0.555000	0.69702	GTG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	15	0	0	0	1	0	8	15				
HAPLN4	404037	broad.mit.edu	37	19	19371692	19371692	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19371692G>A	ENST00000291481.7	-	3	477	c.414C>T	c.(412-414)taC>taT	p.Y138Y	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	138	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CATAGCGCCCGTAGTCTTGCA	0.632																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(412-414)taC>taT		hyaluronan and proteoglycan link protein 4							80.0	71.0	74.0					19																	19371692		2203	4300	6503	SO:0001819	synonymous_variant	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371692G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.414C>T	19.37:g.19371692G>A						AC138430.4_ENST00000586064.2_RNA	p.Y138Y	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	477	-			138			Ig-like C2-type.		A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	c.414C>T	CCDS12398.1																																																																																				0.632	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		16	37	0	0	0	1	0	16	37				
EDEM3	80267	broad.mit.edu	37	1	184675822	184675822	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184675822C>T	ENST00000318130.8	-	18	2424	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.A677T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	720	PA.				cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATGTTGCGTGCCTTTTCTGCA	0.428																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2158-2160)Gca>Aca		ER degradation enhancer, mannosidase alpha-like 3							176.0	124.0	142.0					1																	184675822		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184675822C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2158G>A	1.37:g.184675822C>T	ENSP00000318147:p.Ala720Thr					EDEM3_ENST00000367512.3_Missense_Mutation_p.A677T|EDEM3_ENST00000466392.1_5'UTR	p.A720T	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			18	2424	-			720			PA.		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2158G>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	36	5.689152	0.96784	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.08370	3.1;3.1	5.79	5.79	0.91817	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.59967	1.855	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.00136	-1.2006	10	0.72032	D	0.01	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	720	Q9BZQ6	EDEM3_HUMAN	T	720;677	ENSP00000318147:A720T;ENSP00000356482:A677T	ENSP00000318147:A720T	A	-	1	0	EDEM3	182942445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.733000	0.93635	0.655000	0.94253	GCA		0.428	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		22	21	0	0	0	1	0	22	21				
KIAA1429	25962	broad.mit.edu	37	8	95522015	95522015	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95522015G>A	ENST00000297591.5	-	15	3855	c.3780C>T	c.(3778-3780)ttC>ttT	p.F1260F	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.F1260F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1260					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAAGATCCTGGAATATCTCTG	0.398																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3778-3780)ttC>ttT		KIAA1429							96.0	95.0	95.0					8																	95522015		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95522015G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3780C>T	8.37:g.95522015G>A						KIAA1429_ENST00000437199.1_Silent_p.F1260F|KIAA1429_ENST00000523405.1_5'UTR	p.F1260F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3855	-	Breast(36;3.29e-05)		1260					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.3780C>T	CCDS34923.1																																																																																				0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		23	30	0	0	0	1	0	23	30				
MARK4	57787	broad.mit.edu	37	19	45805775	45805775	+	Missense_Mutation	SNP	G	G	A	rs200016116		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45805775G>A	ENST00000262891.4	+	17	2397	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	689					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCGCTGCCGCCAGCCACAG	0.726																																						ENST00000262891.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2065-2067)cGc>cAc		MAP/microtubule affinity-regulating kinase 4																																				SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805775G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.2066G>A	19.37:g.45805775G>A	ENSP00000262891:p.Arg689His					MARK4_ENST00000300843.4_3'UTR	p.R689H	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	17	2397	+		all_neural(266;0.224)|Ovarian(192;0.231)	689					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.2066G>A	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506753	0.26949	.	.	ENSG00000007047	ENST00000262891;ENST00000538583	T	0.42513	0.97	5.4	4.35	0.52113	Kinase-associated KA1 (2);	0.067100	0.64402	D	0.000013	T	0.24353	0.0590	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06427	-1.0827	10	0.62326	D	0.03	.	6.9353	0.24463	0.0872:0.0:0.7375:0.1753	.	689	Q96L34	MARK4_HUMAN	H	689;16	ENSP00000262891:R689H	ENSP00000262891:R689H	R	+	2	0	MARK4	50497615	0.996000	0.38824	1.000000	0.80357	0.036000	0.12997	2.493000	0.45320	1.265000	0.44215	-0.311000	0.09066	CGC		0.726	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		19	20	0	0	0	1	0	19	20				
TRPA1	8989	broad.mit.edu	37	8	72964955	72964955	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:72964955C>T	ENST00000262209.4	-	14	1897	c.1690G>A	c.(1690-1692)Gtt>Att	p.V564I	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	564					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGAAGCGCAACGGCTTTGGCG	0.468																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1690-1692)Gtt>Att		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						157.0	131.0	140.0					8																	72964955		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964955C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1690G>A	8.37:g.72964955C>T	ENSP00000262209:p.Val564Ile					RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	p.V564I	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1897	-			564					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1690G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855621	0.51376	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.69685	-0.42;-0.42	4.98	4.09	0.47781	Ankyrin repeat-containing domain (4);	0.158692	0.56097	D	0.000032	T	0.75213	0.3819	M	0.75615	2.305	0.41536	D	0.988483	D	0.67145	0.996	P	0.57548	0.823	T	0.74137	-0.3762	10	0.29301	T	0.29	-14.4863	13.0896	0.59160	0.0:0.9218:0.0:0.0782	.	564	O75762	TRPA1_HUMAN	I	416;564	ENSP00000428151:V416I;ENSP00000262209:V564I	ENSP00000262209:V564I	V	-	1	0	TRPA1	73127509	0.998000	0.40836	0.043000	0.18650	0.508000	0.34012	5.202000	0.65169	2.466000	0.83321	0.585000	0.79938	GTT		0.468	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		43	49	0	0	0	1	0	43	49				
ENO3	2027	broad.mit.edu	37	17	4860157	4860157	+	Missense_Mutation	SNP	G	G	A	rs561474067	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4860157G>A	ENST00000323997.6	+	11	1340	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	ENO3_ENST00000518175.1_Missense_Mutation_p.R403H|ENO3_ENST00000519584.1_Missense_Mutation_p.R360H	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	403					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGCTCGGAGCGTCTGGCCAAA	0.587											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	8	0.00159744	0.0	0.0	5008	,	,		18333	0.0		0.0	False		,,,				2504	0.0082					ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1207-1209)cGt>cAt		enolase 3 (beta, muscle)							154.0	166.0	162.0					17																	4860157		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4860157G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1208G>A	17.37:g.4860157G>A	ENSP00000324105:p.Arg403His		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_ENST00000519584.1_Missense_Mutation_p.R360H|ENO3_ENST00000518175.1_Missense_Mutation_p.R403H	p.R403H	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			11	1340	+			403					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1208G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141175	0.77775	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.63744	-0.06;-0.06;-0.06	5.32	5.32	0.75619	Enolase, C-terminal (1);	0.107611	0.64402	D	0.000006	T	0.71048	0.3294	M	0.89353	3.025	0.80722	D	1	B;B;B	0.21821	0.051;0.061;0.051	B;B;B	0.27076	0.076;0.063;0.076	T	0.72337	-0.4324	10	0.66056	D	0.02	-27.9826	16.5841	0.84723	0.0:0.0:1.0:0.0	.	403;360;403	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	H	403;360;403	ENSP00000324105:R403H;ENSP00000430636:R360H;ENSP00000431087:R403H	ENSP00000324105:R403H	R	+	2	0	ENO3	4800881	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.821000	0.86641	2.786000	0.95864	0.585000	0.79938	CGT		0.587	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			45	70	0	0	0	1	0	45	70				
PLCZ1	89869	broad.mit.edu	37	12	18858171	18858171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18858171G>A	ENST00000538330.1	-	4	397	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q128*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q70*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q72*|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q263*|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Nonsense_Mutation_p.Q265*					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAAGTAGCCTGCAAATTGTCT	0.398																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(793-795)Cag>Tag		phospholipase C, zeta 1							141.0	137.0	138.0					12																	18858171		2203	4300	6503	SO:0001587	stop_gained	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18858171G>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.16C>T	12.37:g.18858171G>A	ENSP00000445880:p.Gln6*					PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q263*|PLCZ1_ENST00000539875.1_Nonsense_Mutation_p.Q72*|PLCZ1_ENST00000541695.1_Nonsense_Mutation_p.Q128*|PLCZ1_ENST00000538330.1_Nonsense_Mutation_p.Q6*|PLCZ1_ENST00000435379.1_Nonsense_Mutation_p.Q70*	p.Q265*			Q86YW0	PLCZ1_HUMAN			7	1056	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		265			PI-PLC X-box.			Nonsense_Mutation	SNP	ENST00000538330.1	37	c.793C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.735198	0.89482	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000543242;ENST00000539072	.	.	.	5.06	4.1	0.47936	.	0.544895	0.19388	N	0.115492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.1228	0.30982	0.0:0.1707:0.6529:0.1763	.	.	.	.	X	6;265;263;70;128;72;6;92	.	ENSP00000266505:Q265X	Q	-	1	0	PLCZ1	18749438	0.259000	0.24043	0.854000	0.33618	0.311000	0.27955	0.530000	0.23036	2.514000	0.84764	0.557000	0.71058	CAG		0.398	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		8	80	0	0	0	1	0	8	80				
DFFA	1676	broad.mit.edu	37	1	10523527	10523527	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10523527C>T	ENST00000377038.3	-	4	659	c.592G>A	c.(592-594)Gct>Act	p.A198T	DFFA_ENST00000377036.2_Missense_Mutation_p.A198T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	198					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TTCTCCAAAGCCTGGAGGTAC	0.572																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(592-594)Gct>Act		DNA fragmentation factor, 45kDa, alpha polypeptide							68.0	66.0	67.0					1																	10523527		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523527C>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.592G>A	1.37:g.10523527C>T	ENSP00000366237:p.Ala198Thr					DFFA_ENST00000377036.2_Missense_Mutation_p.A198T	p.A198T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	659	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	198					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.592G>A	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128127	0.94473	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.39	5.39	0.77823	DNA fragmentation factor 45kDa, C-terminal (2);	0.047201	0.85682	D	0.000000	T	0.79656	0.4483	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	P;D	0.91635	0.846;0.999	T	0.81556	-0.0879	9	0.87932	D	0	-15.1501	19.1371	0.93431	0.0:1.0:0.0:0.0	.	198;198	O00273-2;O00273	.;DFFA_HUMAN	T	198	.	ENSP00000366235:A198T	A	-	1	0	DFFA	10446114	1.000000	0.71417	0.798000	0.32154	0.935000	0.57460	4.160000	0.58164	2.524000	0.85096	0.650000	0.86243	GCT		0.572	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		41	53	0	0	0	1	0	41	53				
RAPGEF4	11069	broad.mit.edu	37	2	173852994	173852994	+	Silent	SNP	C	C	T	rs373138887		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:173852994C>T	ENST00000397081.3	+	13	1364	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	RAPGEF4_ENST00000540783.1_Silent_p.Y254Y|RAPGEF4_ENST00000409036.1_Silent_p.Y407Y|RAPGEF4_ENST00000538974.1_Silent_p.Y236Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Silent_p.Y263Y|RAPGEF4_ENST00000264111.6_Silent_p.Y406Y|RAPGEF4_ENST00000535187.1_Silent_p.Y187Y|RAPGEF4_ENST00000539331.1_Silent_p.Y254Y	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	407					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAGTCATTTACGGCAAGGTAT	0.348																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1216-1218)taC>taT		Rap guanine nucleotide exchange factor (GEF) 4		C	,	0,3624		0,0,1812	118.0	108.0	111.0		789,1221	-1.3	1.0	2		111	2,8164		0,2,4081	no	coding-synonymous,coding-synonymous	RAPGEF4	NM_001100397.1,NM_007023.3	,	0,2,5893	TT,TC,CC		0.0245,0.0,0.017	,	263/868,407/1012	173852994	2,11788	1812	4083	5895	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173852994C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1221C>T	2.37:g.173852994C>T						RAPGEF4_ENST00000540783.1_Silent_p.Y254Y|RAPGEF4_ENST00000535187.1_Silent_p.Y187Y|RAPGEF4_ENST00000538974.1_Silent_p.Y236Y|RAPGEF4_ENST00000409036.1_Silent_p.Y407Y|RAPGEF4_ENST00000539331.1_Silent_p.Y254Y|RAPGEF4_ENST00000397081.3_Silent_p.Y407Y|RAPGEF4_ENST00000397087.3_Silent_p.Y263Y|RAPGEF4_ENST00000473043.1_3'UTR	p.Y406Y			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		13	1405	+			407					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.1218C>T	CCDS42775.1																																																																																				0.348	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		18	54	0	0	0	1	0	18	54				
TICAM2	353376	broad.mit.edu	37	5	114916397	114916397	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114916397G>A	ENST00000427199.2	-	2	998	c.557C>T	c.(556-558)cCc>cTc	p.P186L	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P355L|TICAM2_ENST00000513729.1_5'Flank|TICAM2_ENST00000408996.4_Missense_Mutation_p.P355L	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	186	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		GAGGGCAAAGGGAGTCCTTTC	0.443																																						ENST00000408996.4																			0				cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5						c.(1063-1065)cCc>cTc		toll-like receptor adaptor molecule 2							78.0	84.0	82.0					5																	114916397		2202	4300	6502	SO:0001583	missense	353376							g.chr5:114916397G>A	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.557C>T	5.37:g.114916397G>A	ENSP00000415139:p.Pro186Leu					TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P355L|TICAM2_ENST00000427199.2_Missense_Mutation_p.P186L	p.P355L	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1				OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)	4	1450	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.1064C>T	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687817	0.88639	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.55760	0.5;0.5;0.5	5.92	5.92	0.95590	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.56097	D	0.000021	T	0.67776	0.2929	L	0.48642	1.525	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67385	-0.5684	10	0.62326	D	0.03	.	17.2467	0.87030	0.0:0.0:1.0:0.0	.	355;186	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	L	355;186;355	ENSP00000386341:P355L;ENSP00000415139:P186L;ENSP00000282382:P355L	ENSP00000415139:P186L	P	-	2	0	TICAM2;TMED7-TICAM2	114944296	1.000000	0.71417	0.984000	0.44739	0.766000	0.43426	3.949000	0.56668	2.810000	0.96702	0.585000	0.79938	CCC		0.443	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		4	59	0	0	0	1	0	4	59				
MCM3AP	8888	broad.mit.edu	37	21	47704923	47704923	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47704923A>G	ENST00000397708.1	-	2	532	c.278T>C	c.(277-279)tTt>tCt	p.F93S	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F93S|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	93	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGTAGCCACAAAGGTGGAAGT	0.483																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(277-279)tTt>tCt		minichromosome maintenance complex component 3 associated protein							93.0	89.0	90.0					21																	47704923		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704923A>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.278T>C	21.37:g.47704923A>G	ENSP00000380820:p.Phe93Ser					MCM3AP_ENST00000291688.1_Missense_Mutation_p.F93S	p.F93S			O60318	MCM3A_HUMAN			2	532	-	Breast(49;0.112)		93					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.278T>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932865	0.52866	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	T;T	0.04603	3.59;3.59	5.37	4.15	0.48705	.	0.248338	0.39759	N	0.001269	T	0.03434	0.0099	L	0.27053	0.805	0.09310	N	1	B	0.23442	0.085	B	0.19391	0.025	T	0.34625	-0.9821	10	0.62326	D	0.03	-15.1186	3.2331	0.06755	0.6733:0.0:0.1316:0.195	.	93	O60318	MCM3A_HUMAN	S	93	ENSP00000380820:F93S;ENSP00000291688:F93S	ENSP00000291688:F93S	F	-	2	0	MCM3AP	46529351	1.000000	0.71417	0.391000	0.26233	0.872000	0.50106	4.257000	0.58816	2.026000	0.59711	0.459000	0.35465	TTT		0.483	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	5	0	0	0	1	0	15	5				
TRAV36DV7	28646	broad.mit.edu	37	14	22695104	22695104	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22695104G>T	ENST00000390463.3	+	0	311									T cell receptor alpha variable 36/delta variable 7																		GAACATCACAGCCACCCAGAC	0.458																																						ENST00000390463.3																			0																				19.0	22.0	21.0					14																	22695104		1962	4168	6130			0							g.chr14:22695104G>T	AE000660		14q11.2	2012-02-07			ENSG00000211815	ENSG00000211815		"""T cell receptors / TRA locus"""	12135	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV36/DV7			OTTHUMG00000170666		14.37:g.22695104G>T														0	311	+									RNA	SNP	ENST00000390463.3	37																																																																																						0.458	TRAV36DV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409914.1	NG_001332		6	8	1	0	2.0095e-06	1	2.09073e-06	6	8				
PHKG1	5260	broad.mit.edu	37	7	56146174	56146174	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:56146174C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000437307.2_Missense_Mutation_p.A196V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A265V|SUMF2_ENST00000395435.2_Missense_Mutation_p.A200V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A269V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A177V|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.A284V	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATGGCTCTGCCAATCACCGG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(850-852)gCc>gTc		sulfatase modifying factor 2							36.0	32.0	33.0					7																	56146174		2203	4299	6502	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56146174C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56146174C>T						SUMF2_ENST00000395435.2_Missense_Mutation_p.A200V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A269V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A177V|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.A196V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A265V	p.A284V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	882	+	Breast(14;0.214)		265					B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.851C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482964	0.96307	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.08	5.08	0.68730	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	.	.	.	.	D	0.94525	0.8237	L	0.33485	1.01	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.995;0.988;0.997	D;P;P;D	0.75020	0.985;0.834;0.784;0.93	D	0.94800	0.7970	9	0.52906	T	0.07	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	181;269;287;265	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7	.;.;.;SUMF2_HUMAN	V	269;284;177;200;287;196;265;282	ENSP00000378824:A269V;ENSP00000400922:A284V;ENSP00000275607:A177V;ENSP00000378823:A200V;ENSP00000414434:A287V;ENSP00000415989:A196V;ENSP00000406445:A265V;ENSP00000410796:A282V	ENSP00000275607:A177V	A	+	2	0	SUMF2	56113668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.298000	0.78815	2.517000	0.84864	0.655000	0.94253	GCC		0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		6	14	0	0	0	1	0	6	14				
NFYB	4801	broad.mit.edu	37	12	104517076	104517076	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104517076G>A	ENST00000240055.3	-	5	584	c.357C>T	c.(355-357)ctC>ctT	p.L119L	NFYB_ENST00000551727.1_Silent_p.L119L|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	119	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACATAGCAAAGAGAATATCTT	0.348																																						ENST00000240055.3																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(355-357)ctC>ctT		nuclear transcription factor Y, beta							129.0	119.0	123.0					12																	104517076		2203	4300	6503	SO:0001819	synonymous_variant	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517076G>A		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.357C>T	12.37:g.104517076G>A						NFYB_ENST00000551727.1_Silent_p.L119L	p.L119L	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN			5	584	-			119			B domain.		A8K7B9|Q96IY8	Silent	SNP	ENST00000240055.3	37	c.357C>T	CCDS9098.1																																																																																				0.348	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			25	36	0	0	0	1	0	25	36				
PIP4K2B	8396	broad.mit.edu	37	17	36936738	36936738	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36936738C>T	ENST00000269554.3	-	4	954	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	158	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTGCATCTCCGCCACGTCCT	0.582																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(472-474)gcG>gcA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							96.0	85.0	89.0					17																	36936738		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36936738C>T	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.474G>A	17.37:g.36936738C>T						PIP4K2B_ENST00000311500.6_5'UTR	p.A158A	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			4	954	-			158			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.474G>A	CCDS11329.1																																																																																				0.582	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		32	52	0	0	0	1	0	32	52				
ZNF598	90850	broad.mit.edu	37	16	2049773	2049773	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2049773C>T	ENST00000563630.1	-	9	1854	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.V538M|ZNF598_ENST00000431526.1_Missense_Mutation_p.V593M			Q86UK7	ZN598_HUMAN	zinc finger protein 598	593							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCGAGCCCACTTTCTTCTTC	0.657																																						ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1612-1614)Gtg>Atg		zinc finger protein 598							18.0	22.0	20.0					16																	2049773		1941	4136	6077	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2049773C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1612G>A	16.37:g.2049773C>T	ENSP00000455882:p.Val538Met					ZNF598_ENST00000431526.1_Missense_Mutation_p.V593M|ZNF598_ENST00000562103.1_Missense_Mutation_p.V538M	p.V538M			Q86UK7	ZN598_HUMAN			9	1854	-			593					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.1612G>A		.	.	.	.	.	.	.	.	.	.	.	2.583	-0.296904	0.05532	.	.	ENSG00000167962	ENST00000431526	T	0.18502	2.21	4.69	2.54	0.30619	.	0.555410	0.19720	N	0.107613	T	0.14700	0.0355	L	0.55103	1.725	0.30356	N	0.784293	B	0.24823	0.112	B	0.19946	0.027	T	0.06734	-1.0810	10	0.33940	T	0.23	-18.3486	7.3652	0.26768	0.0:0.7276:0.0:0.2724	.	593	Q86UK7	ZN598_HUMAN	M	593	ENSP00000411409:V593M	ENSP00000411409:V593M	V	-	1	0	ZNF598	1989774	0.056000	0.20664	1.000000	0.80357	0.273000	0.26683	-0.370000	0.07523	1.172000	0.42781	0.650000	0.86243	GTG		0.657	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		9	19	0	0	0	1	0	9	19				
CCDC40	55036	broad.mit.edu	37	17	78011943	78011943	+	Silent	SNP	G	G	A	rs141650385	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78011943G>A	ENST00000397545.4	+	2	78	c.51G>A	c.(49-51)tcG>tcA	p.S17S	TBC1D16_ENST00000310924.2_5'Flank|CCDC40_ENST00000374877.3_Silent_p.S17S|CCDC40_ENST00000269318.5_Silent_p.S17S|CCDC40_ENST00000374876.4_Silent_p.S17S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	17					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)				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)			AAGATGGATCGGCTTCTGAGG	0.418													G|||	9	0.00179712	0.0068	0.0	5008	,	,		17445	0.0		0.0	False		,,,				2504	0.0					ENST00000397545.4																			0				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						c.(49-51)tcG>tcA		coiled-coil domain containing 40		G		10,3644		0,10,1817	62.0	61.0	61.0		51	-3.6	0.0	17	dbSNP_134	61	1,8159		0,1,4079	no	coding-synonymous	CCDC40	NM_017950.3		0,11,5896	AA,AG,GG		0.0123,0.2737,0.0931		17/1143	78011943	11,11803	1827	4080	5907	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78011943G>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.51G>A	17.37:g.78011943G>A						CCDC40_ENST00000374877.3_Silent_p.S17S|CCDC40_ENST00000374876.4_Silent_p.S17S|CCDC40_ENST00000269318.5_Silent_p.S17S	p.S17S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	78	+	all_neural(118;0.167)		17					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.51G>A	CCDS42395.1																																																																																				0.418	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		20	24	0	0	0	1	0	20	24				
NEK6	10783	broad.mit.edu	37	9	127113178	127113178	+	Silent	SNP	C	C	T	rs375270617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127113178C>T	ENST00000320246.5	+	10	1039	c.894C>T	c.(892-894)taC>taT	p.Y298Y	NEK6_ENST00000373600.3_Silent_p.Y332Y|NEK6_ENST00000545174.1_Silent_p.Y298Y|NEK6_ENST00000394199.2_Silent_p.Y332Y|NEK6_ENST00000540326.1_Silent_p.Y316Y|NEK6_ENST00000546191.1_Silent_p.Y298Y|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000373603.1_Silent_p.Y298Y|PSMB7_ENST00000498485.1_5'Flank|NEK6_ENST00000539416.1_Silent_p.Y323Y	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Y291Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ACATCGGATACGTGCACCAGG	0.542																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			1	Substitution - coding silent(1)	p.Y291Y(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(994-996)taC>taT		NIMA-related kinase 6		C	,,,,,,	0,4406		0,0,2203	109.0	80.0	90.0		996,948,894,969,894,996,894	-7.7	0.1	9		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEK6	NM_001145001.2,NM_001166167.1,NM_001166168.1,NM_001166169.1,NM_001166170.1,NM_001166171.1,NM_014397.5	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	332/348,316/332,298/314,323/339,298/314,332/348,298/314	127113178	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127113178C>T	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.894C>T	9.37:g.127113178C>T						NEK6_ENST00000394199.2_Silent_p.Y332Y|NEK6_ENST00000320246.5_Silent_p.Y298Y|NEK6_ENST00000546191.1_Silent_p.Y298Y|NEK6_ENST00000540326.1_Silent_p.Y316Y|NEK6_ENST00000373603.1_Silent_p.Y298Y|NEK6_ENST00000539416.1_Silent_p.Y323Y|NEK6_ENST00000545174.1_Silent_p.Y298Y	p.Y332Y	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			11	1211	+			298					B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP	ENST00000320246.5	37	c.996C>T	CCDS6854.1																																																																																				0.542	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		6	9	0	0	0	1	0	6	9				
GCN1L1	10985	broad.mit.edu	37	12	120575043	120575043	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120575043G>A	ENST00000300648.6	-	50	6756	c.6744C>T	c.(6742-6744)ggC>ggT	p.G2248G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2248					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATGCTCGCCTTTGCTCT	0.577																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6742-6744)ggC>ggT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							154.0	157.0	156.0					12																	120575043		2051	4186	6237	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120575043G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6744C>T	12.37:g.120575043G>A							p.G2248G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			50	6756	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2248					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.6744C>T	CCDS41847.1																																																																																				0.577	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			59	69	0	0	0	1	0	59	69				
ANGPT4	51378	broad.mit.edu	37	20	896759	896759	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:896759G>A	ENST00000381922.3	-	1	201	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ANGPT4_ENST00000546022.1_Silent_p.C33C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	33					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAAGTGTCTCGCAGCCCCTAT	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(97-99)tgC>tgT		angiopoietin 4							85.0	82.0	83.0					20																	896759		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896759G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.99C>T	20.37:g.896759G>A						ANGPT4_ENST00000546022.1_Silent_p.C33C	p.C33C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	201	-			33					B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.99C>T	CCDS13009.1																																																																																				0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		18	23	0	0	0	1	0	18	23				
ENPEP	2028	broad.mit.edu	37	4	111441445	111441445	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111441445C>T	ENST00000265162.5	+	10	1992	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	550					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTAACGTGAACGGTGTCAAGA	0.443																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1648-1650)aaC>aaT		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						137.0	125.0	129.0					4																	111441445		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441445C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1650C>T	4.37:g.111441445C>T							p.N550N	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	1992	+		Hepatocellular(203;0.217)	550					Q504U2	Silent	SNP	ENST00000265162.5	37	c.1650C>T	CCDS3691.1																																																																																				0.443	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			33	43	0	0	0	1	0	33	43				
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000414170.3_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - coding silent(1)	p.C75C(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(223-225)tgC>tgT		lipase, hepatic							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C	p.C75C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	512	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			13	108	0	0	0	1	0	13	108				
ZNF778	197320	broad.mit.edu	37	16	89294899	89294899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89294899G>T	ENST00000433976.2	+	6	2451	c.2119G>T	c.(2119-2121)Gga>Tga	p.G707*	ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G665*|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAAGGACTGTGGAAAATCTTT	0.343																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(2119-2121)Gga>Tga		zinc finger protein 778							56.0	59.0	58.0					16																	89294899		1990	4183	6173	SO:0001587	stop_gained	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294899G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.2119G>T	16.37:g.89294899G>T	ENSP00000405289:p.Gly707*					RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G665*	p.G707*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2451	+			707					Q08AG0	Nonsense_Mutation	SNP	ENST00000433976.2	37	c.2119G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	37	6.351756	0.97498	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	.	.	.	0.868	-0.724	0.11177	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.493	0.16787	0.0:0.0:0.6765:0.3234	.	.	.	.	X	707;665	.	ENSP00000305203:G665X	G	+	1	0	ZNF778	87822400	0.900000	0.30661	0.003000	0.11579	0.112000	0.19704	1.342000	0.33919	-0.163000	0.10946	0.306000	0.20318	GGA		0.343	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		18	45	1	0	8.34094e-07	1	8.70022e-07	18	45				
HEBP1	50865	broad.mit.edu	37	12	13140127	13140127	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13140127G>A	ENST00000014930.4	-	3	515	c.357C>T	c.(355-357)agC>agT	p.S119S	RP11-392P7.6_ENST00000499948.2_RNA|HEBP1_ENST00000536942.1_Silent_p.S119S	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	119					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CAATCTTAACGCTTTTGTCAC	0.483																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(355-357)agC>agT		heme binding protein 1							169.0	151.0	157.0					12																	13140127		2203	4300	6503	SO:0001819	synonymous_variant	50865				circadian rhythm	extracellular region		g.chr12:13140127G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.357C>T	12.37:g.13140127G>A						HEBP1_ENST00000014930.4_Silent_p.S119S	p.S119S			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	3	507	-		Prostate(47;0.183)	119					A8K1G2|Q9Y5Z5	Silent	SNP	ENST00000014930.4	37	c.357C>T	CCDS31749.1																																																																																				0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			6	128	0	0	0	1	0	6	128				
TMIGD2	126259	broad.mit.edu	37	19	4292775	4292775	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4292775T>A	ENST00000301272.2	-	5	715	c.670A>T	c.(670-672)Acc>Tcc	p.T224S	TMIGD2_ENST00000600349.1_Missense_Mutation_p.T52S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T104S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T220S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	224					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAAGGAGGTTGAATAAATG	0.677																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(670-672)Acc>Tcc		transmembrane and immunoglobulin domain containing 2							34.0	40.0	38.0					19																	4292775		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4292775T>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.670A>T	19.37:g.4292775T>A	ENSP00000301272:p.Thr224Ser					TMIGD2_ENST00000600349.1_Missense_Mutation_p.T52S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T220S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T104S	p.T224S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	715	-			224					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.670A>T	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	9.703	1.155025	0.21371	.	.	ENSG00000167664	ENST00000301272	T	0.33438	1.41	3.04	-0.6	0.11642	.	.	.	.	.	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	P;P	0.50819	0.939;0.9	P;B	0.45474	0.482;0.289	T	0.08973	-1.0696	9	0.07030	T	0.85	.	3.246	0.06797	0.0:0.2547:0.2138:0.5315	.	220;224	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	S	224	ENSP00000301272:T224S	ENSP00000301272:T224S	T	-	1	0	TMIGD2	4243775	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.085000	0.11250	-0.339000	0.08401	0.454000	0.30748	ACC		0.677	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		13	42	0	0	0	1	0	13	42				
CNTN4	152330	broad.mit.edu	37	3	3030068	3030068	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3030068C>T	ENST00000397461.1	+	13	1782	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	CNTN4_ENST00000448906.2_Silent_p.N138N|CNTN4_ENST00000358480.3_Silent_p.N247N|CNTN4_ENST00000397459.2_Silent_p.N138N|CNTN4_ENST00000427331.1_Silent_p.N466N|CNTN4_ENST00000418658.1_Silent_p.N466N|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	466	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATCATCAACGTTACTAAAT	0.363																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1396-1398)aaC>aaT		contactin 4							92.0	92.0	92.0					3																	3030068		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3030068C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1398C>T	3.37:g.3030068C>T						CNTN4_ENST00000397459.2_Silent_p.N138N|CNTN4_ENST00000358480.3_Silent_p.N247N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.N138N|CNTN4_ENST00000418658.1_Silent_p.N466N|CNTN4_ENST00000427331.1_Silent_p.N466N	p.N466N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	13	1782	+		Ovarian(110;0.156)	466			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1398C>T	CCDS43041.1																																																																																				0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			8	105	0	0	0	1	0	8	105				
ZNF467	168544	broad.mit.edu	37	7	149462733	149462733	+	Silent	SNP	G	G	A	rs3194380		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149462733G>A	ENST00000302017.3	-	5	1271	c.858C>T	c.(856-858)caC>caT	p.H286H	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCGAATCAAGTGCGTCTTCT	0.622																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(856-858)caC>caT		zinc finger protein 467							39.0	24.0	29.0					7																	149462733		2203	4299	6502	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462733G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.858C>T	7.37:g.149462733G>A						ZNF467_ENST00000484747.1_Intron	p.H286H	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1271	-	Melanoma(164;0.165)|Ovarian(565;0.177)		286						Silent	SNP	ENST00000302017.3	37	c.858C>T	CCDS5899.1																																																																																				0.622	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	6	0	0	0	1	0	5	6				
ACSM2A	123876	broad.mit.edu	37	16	20476858	20476858	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20476858G>A	ENST00000573854.1	+	3	311	c.197G>A	c.(196-198)aGc>aAc	p.S66N	ACSM2A_ENST00000219054.6_Missense_Mutation_p.S66N|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S66N	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	66					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGACTCCCAAGCCCAGCCCTG	0.527																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(196-198)aGc>aAc		acyl-CoA synthetase medium-chain family member 2A							39.0	39.0	39.0					16																	20476858		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476858G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.197G>A	16.37:g.20476858G>A	ENSP00000459451:p.Ser66Asn					ACSM2A_ENST00000575690.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.S66N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.S66N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S66N|ACSM2A_ENST00000417235.2_5'UTR	p.S66N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	311	+			66					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.197G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.246295	0.01481	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.40476	1.03;1.03;1.03	3.76	-4.16	0.03869	.	1.524580	0.03985	N	0.293997	T	0.13756	0.0333	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22871	-1.0204	10	0.02654	T	1	-0.1756	2.2249	0.03981	0.5406:0.1445:0.1696:0.1454	.	66	Q08AH3	ACS2A_HUMAN	N	66	ENSP00000219054:S66N;ENSP00000394904:S66N;ENSP00000379411:S66N	ENSP00000219054:S66N	S	+	2	0	ACSM2A	20384359	0.000000	0.05858	0.016000	0.15963	0.079000	0.17450	-0.201000	0.09464	-0.395000	0.07715	0.298000	0.19748	AGC		0.527	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		7	32	0	0	0	1	0	7	32				
TRAM1L1	133022	broad.mit.edu	37	4	118005506	118005506	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:118005506G>A	ENST00000310754.4	-	1	1230	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	348					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CTCCCACTCCGTTTTCTGTTC	0.393																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1042-1044)aaC>aaT		translocation associated membrane protein 1-like 1							158.0	163.0	162.0					4																	118005506		2203	4300	6503	SO:0001819	synonymous_variant	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005506G>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1044C>T	4.37:g.118005506G>A							p.N348N	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	1230	-			348					Q8N2L7	Silent	SNP	ENST00000310754.4	37	c.1044C>T	CCDS3707.1																																																																																				0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		6	196	0	0	0	1	0	6	196				
B4GALNT4	338707	broad.mit.edu	37	11	376473	376473	+	Silent	SNP	C	C	T	rs375138819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:376473C>T	ENST00000329962.6	+	14	1350	c.1350C>T	c.(1348-1350)acC>acT	p.T450T		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	450	Pro-rich.				metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCCCACCGAGGCGGCCC	0.781																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1348-1350)acC>acT		beta-1,4-N-acetyl-galactosaminyl transferase 4		C		0,4330		0,0,2165	14.0	17.0	16.0		1350	-7.2	0.0	11		16	1,8527		0,1,4263	no	coding-synonymous	B4GALNT4	NM_178537.4		0,1,6428	TT,TC,CC		0.0117,0.0,0.0078		450/1040	376473	1,12857	2165	4264	6429	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376473C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1350C>T	11.37:g.376473C>T							p.T450T	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1350	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	450			Pro-rich.		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.1350C>T	CCDS7694.1																																																																																				0.781	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	9	0	0	0	1	0	6	9				
HOXD3	3232	broad.mit.edu	37	2	177036685	177036685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:177036685C>T	ENST00000468418.3	+	4	3072	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXD3_ENST00000249440.3_Missense_Mutation_p.R328C|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.R328C			P31249	HXD3_HUMAN	homeobox D3	328					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACAACAGAAGCGCTACGCAGC	0.682																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(982-984)Cgc>Tgc		homeobox D3							13.0	14.0	14.0					2																	177036685		2181	4270	6451	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036685C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.982C>T	2.37:g.177036685C>T	ENSP00000424734:p.Arg328Cys					HOXD3_ENST00000249440.3_Missense_Mutation_p.R328C|HOXD3_ENST00000410016.1_Missense_Mutation_p.R328C	p.R328C			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	4	3072	+			328					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.982C>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598467	0.66332	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.90197	-2.63;-2.63;-2.63	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	M	0.83953	2.67	0.80722	D	1	B	0.13594	0.008	B	0.08055	0.003	D	0.86224	0.1633	10	0.41790	T	0.15	.	9.5262	0.39165	0.142:0.7864:0.0:0.0716	.	328	P31249	HXD3_HUMAN	C	328	ENSP00000424734:R328C;ENSP00000386498:R328C;ENSP00000249440:R328C	ENSP00000249440:R328C	R	+	1	0	HOXD3	176744931	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.493000	0.35605	1.419000	0.47118	0.561000	0.74099	CGC		0.682	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			6	4	0	0	0	1	0	6	4				
IL10	3586	broad.mit.edu	37	1	206944740	206944740	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206944740G>A	ENST00000423557.1	-	2	244	c.186C>T	c.(184-186)gaC>gaT	p.D62D	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	62					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACAACAAGTtgtccagctgat	0.478																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(184-186)gaC>gaT		interleukin 10							52.0	45.0	48.0					1																	206944740		2203	4299	6502	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944740G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.186C>T	1.37:g.206944740G>A							p.D62D	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		2	244	-	Breast(84;0.183)		62						Silent	SNP	ENST00000423557.1	37	c.186C>T	CCDS1467.1																																																																																				0.478	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		7	3	0	0	0	1	0	7	3				
MTG2	26164	broad.mit.edu	37	20	60773769	60773769	+	Missense_Mutation	SNP	C	C	T	rs138156304	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60773769C>T	ENST00000370823.3	+	5	566	c.548C>T	c.(547-549)gCg>gTg	p.A183V	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	183	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TACATTGCCGCGCTGGGCGGG	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18212	0.0		0.0	False		,,,				2504	0.0					ENST00000370823.3																			0											c.(547-549)gCg>gTg		mitochondrial ribosome-associated GTPase 2		C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	97.0	75.0	82.0		548	5.5	0.1	20	dbSNP_134	82	0,8600		0,0,4300	yes	missense	GTPBP5	NM_015666.3	64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	183/407	60773769	4,13002	2203	4300	6503	SO:0001583	missense	26164							g.chr20:60773769C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.548C>T	20.37:g.60773769C>T	ENSP00000359859:p.Ala183Val					MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	p.A183V	NM_015666.3	NP_056481.1					5	566	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.548C>T	CCDS13492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.38	2.519481	0.44866	9.08E-4	0.0	ENSG00000101181	ENST00000370823;ENST00000448254	T;T	0.26373	1.74;1.74	5.52	5.52	0.82312	GTP1/OBG subdomain (3);	0.102097	0.64402	D	0.000003	T	0.49150	0.1540	M	0.87328	2.875	0.80722	D	1	D;D	0.60160	0.977;0.987	P;P	0.55577	0.636;0.779	T	0.55418	-0.8144	10	0.54805	T	0.06	-29.0069	13.697	0.62587	0.0:0.9264:0.0:0.0736	.	183;183	Q5JXJ0;Q9H4K7	.;GTPB5_HUMAN	V	183	ENSP00000359859:A183V;ENSP00000414693:A183V	ENSP00000359859:A183V	A	+	2	0	GTPBP5	60207164	0.755000	0.28372	0.139000	0.22197	0.080000	0.17528	1.408000	0.34668	2.586000	0.87340	0.561000	0.74099	GCG		0.637	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		11	17	0	0	0	1	0	11	17				
FAM83E	54854	broad.mit.edu	37	19	49113195	49113195	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49113195G>A	ENST00000263266.3	-	3	885	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	232								p.S232R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCACGGTGCCGCTCACCTGCC	0.672																																						ENST00000263266.3																			1	Substitution - Missense(1)	p.S232R(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(694-696)agC>agT		family with sequence similarity 83, member E							22.0	27.0	25.0					19																	49113195		2128	4231	6359	SO:0001819	synonymous_variant	54854							g.chr19:49113195G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.696C>T	19.37:g.49113195G>A							p.S232S	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	3	885	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	232					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.696C>T	CCDS42587.1																																																																																				0.672	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		14	11	0	0	0	1	0	14	11				
PLEKHG3	26030	broad.mit.edu	37	14	65197639	65197639	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65197639G>A	ENST00000394691.1	+	6	836	c.689G>A	c.(688-690)cGc>cAc	p.R230H	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R174H			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	230	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGTCCAGCGCATCCTCAAG	0.652																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(520-522)cGc>cAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							47.0	49.0	49.0					14																	65197639		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197639G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.689G>A	14.37:g.65197639G>A	ENSP00000378183:p.Arg230His					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R230H	p.R174H	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	829	+			230			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.158836	0.94686	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	D;D	0.87729	-2.29;-2.29	4.67	4.67	0.58626	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95968	0.8687	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97695	1.0181	10	0.87932	D	0	.	16.7067	0.85374	0.0:0.0:1.0:0.0	.	230;174	A1L390;A1L390-3	PKHG3_HUMAN;.	H	174;230	ENSP00000247226:R174H;ENSP00000378183:R230H	ENSP00000247226:R174H	R	+	2	0	PLEKHG3	64267392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.626000	0.98410	2.288000	0.76882	0.561000	0.74099	CGC		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		14	22	0	0	0	1	0	14	22				
DPY19L2P2	349152	broad.mit.edu	37	7	102837736	102837736	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102837736C>T	ENST00000312132.4	-	0	3435							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CTAACAACTGCAATGTGTGAA	0.313																																						ENST00000312132.4																			0																																																			0							g.chr7:102837736C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102837736C>T														0	3435	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.313	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		8	19	0	0	0	1	0	8	19				
RFPL3	10738	broad.mit.edu	37	22	32756259	32756259	+	Missense_Mutation	SNP	G	G	A	rs146565766	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32756259G>A	ENST00000249007.4	+	2	599	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.D103N|RFPL3_ENST00000397468.1_Missense_Mutation_p.D103N|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D132Y(1)|p.D103Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGGATGCCGACACAGCCAA	0.502													g|||	3	0.000599042	0.0	0.0	5008	,	,		19515	0.001		0.001	False		,,,				2504	0.001					ENST00000249007.4																			2	Substitution - Missense(2)	p.D132Y(1)|p.D103Y(1)	lung(2)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(394-396)Gac>Aac		ret finger protein-like 3		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	123.0	112.0	116.0		394,307	-0.7	0.1	22	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	RFPL3	NM_001098535.1,NM_006604.2	23,23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	132/318,103/289	32756259	3,13003	2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756259G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.394G>A	22.37:g.32756259G>A	ENSP00000249007:p.Asp132Asn					RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.D103N|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.D103N	p.D132N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	599	+			132			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.394G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	6.622	0.483267	0.12581	0.0	3.49E-4	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.07800	3.16;3.16;3.16	0.664	-0.657	0.11432	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05044	0.0135	N	0.21545	0.675	0.36084	D	0.84299	B	0.21905	0.062	B	0.22152	0.038	T	0.33548	-0.9864	9	0.42905	T	0.14	.	4.5983	0.12341	0.4728:0.0:0.5272:0.0	.	132	O75679	RFPL3_HUMAN	N	103;132;103	ENSP00000380609:D103N;ENSP00000249007:D132N;ENSP00000371520:D103N	ENSP00000249007:D132N	D	+	1	0	RFPL3	31086259	0.000000	0.05858	0.102000	0.21198	0.095000	0.18619	0.003000	0.13083	-0.536000	0.06298	-1.050000	0.02344	GAC		0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	66	0	0	0	1	0	4	66				
STAM2	10254	broad.mit.edu	37	2	153003752	153003752	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:153003752G>T	ENST00000263904.4	-	5	720	c.371C>A	c.(370-372)cCt>cAt	p.P124H	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	124	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACTAAACTGAGGGTCCTTCTG	0.363																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(370-372)cCt>cAt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							86.0	88.0	88.0					2																	153003752		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003752G>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.371C>A	2.37:g.153003752G>T	ENSP00000263904:p.Pro124His					STAM2_ENST00000465460.1_5'UTR	p.P124H	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	720	-			124			VHS.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.371C>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281954	0.80692	.	.	ENSG00000115145	ENST00000263904	T	0.26373	1.74	5.56	4.68	0.58851	Src homology-3 domain (1);VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.67063	-0.5765	10	0.87932	D	0	-13.6298	15.874	0.79148	0.0:0.0:0.8634:0.1366	.	124;124	O75886-2;O75886	.;STAM2_HUMAN	H	124	ENSP00000263904:P124H	ENSP00000263904:P124H	P	-	2	0	STAM2	152711998	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	1.341000	0.45600	-0.169000	0.13324	CCT		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		35	66	1	0	3.11337e-16	1	3.41621e-16	35	66				
HECTD2	143279	broad.mit.edu	37	10	93244322	93244322	+	Missense_Mutation	SNP	C	C	T	rs201433936		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93244322C>T	ENST00000298068.5	+	9	974	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.R298C|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATTTCTTTACGCCTGTTTCC	0.368																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(892-894)Cgc>Tgc		HECT domain containing E3 ubiquitin protein ligase 2		C	CYS/ARG	0,4406		0,0,2203	97.0	98.0	98.0		880	6.0	1.0	10		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HECTD2	NM_182765.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	294/777	93244322	1,13005	2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244322C>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.880C>T	10.37:g.93244322C>T	ENSP00000298068:p.Arg294Cys					HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.R294C|HECTD2_ENST00000371667.1_5'UTR	p.R298C			Q5U5R9	HECD2_HUMAN			10	992	+			294					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.892C>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224611	0.95139	0.0	1.16E-4	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.39787	1.08;1.06	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63957	0.794;0.92	T	0.73382	-0.4000	10	0.66056	D	0.02	.	20.4209	0.99038	0.0:1.0:0.0:0.0	.	298;294	E7ERR3;Q5U5R9	.;HECD2_HUMAN	C	298;20;294	ENSP00000401023:R298C;ENSP00000298068:R294C	ENSP00000298068:R294C	R	+	1	0	HECTD2	93234302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.175000	0.77632	2.823000	0.97156	0.591000	0.81541	CGC		0.368	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			48	58	0	0	0	1	0	48	58				
CUTC	51076	broad.mit.edu	37	10	101507076	101507076	+	Missense_Mutation	SNP	C	C	T	rs369267471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101507076C>T	ENST00000370476.5	+	6	631	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	168					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGGATTTGAACGCGTGTTGAC	0.428																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(502-504)Cgc>Tgc		cutC copper transporter		C	CYS/ARG	0,4406		0,0,2203	181.0	168.0	173.0		502	4.8	1.0	10		173	1,8599		0,1,4299	no	missense	CUTC	NM_015960.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	168/274	101507076	1,13005	2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101507076C>T	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.502C>T	10.37:g.101507076C>T	ENSP00000359507:p.Arg168Cys						p.R168C	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	6	631	+		Colorectal(252;0.234)	168					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.502C>T	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095882	0.76870	0.0	1.16E-4	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	5.75	4.85	0.62838	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89837	0.4000	9	0.87932	D	0	-6.997	13.9716	0.64245	0.2757:0.7243:0.0:0.0	.	168;168	B4DYM2;Q9NTM9	.;CUTC_HUMAN	C	168;105	.	ENSP00000359503:R105C	R	+	1	0	CUTC	101497066	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.959000	0.40412	1.424000	0.47217	0.563000	0.77884	CGC		0.428	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		26	59	0	0	0	1	0	26	59				
ABCC1	4363	broad.mit.edu	37	16	16215871	16215871	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:16215871G>A	ENST00000399410.3	+	24	3605	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000399408.2_Missense_Mutation_p.E1154K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1144	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAAGCGCCTCGAGTCGGTCAG	0.617																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3460-3462)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						32.0	36.0	34.0					16																	16215871		2139	4268	6407	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215871G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3430G>A	16.37:g.16215871G>A	ENSP00000382342:p.Glu1144Lys					ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K	p.E1154K			P33527	MRP1_HUMAN			25	3635	+			1144			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3460G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112630	0.94339	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.36	4.41	0.53225	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045211	0.85682	N	0.000000	D	0.96617	0.8896	H	0.96111	3.77	0.54753	D	0.999981	D;D;D;D;D;D	0.89917	0.989;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.882;0.999;0.997;0.996;0.999;0.999	D	0.97231	0.9884	10	0.87932	D	0	-36.1219	12.784	0.57493	0.0784:0.0:0.9216:0.0	.	1029;1144;1088;1085;1144;1154	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	K	1144;1154;1088;1085;1144;1029;828	ENSP00000382342:E1144K;ENSP00000382340:E1154K;ENSP00000263019:E1088K;ENSP00000263017:E1085K;ENSP00000263014:E1144K;ENSP00000263016:E1029K	ENSP00000263014:E1144K	E	+	1	0	ABCC1	16123372	1.000000	0.71417	0.813000	0.32504	0.765000	0.43378	9.828000	0.99408	1.262000	0.44165	0.561000	0.74099	GAG		0.617	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		9	24	0	0	0	1	0	9	24				
TAF1B	9014	broad.mit.edu	37	2	10022928	10022928	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10022928T>C	ENST00000263663.5	+	8	989	c.801T>C	c.(799-801)ggT>ggC	p.G267G	TAF1B_ENST00000396242.3_Silent_p.G12G	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	267	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAATCTTTGGTATAGAGGTAA	0.323																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(799-801)ggT>ggC		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							97.0	101.0	100.0					2																	10022928		2203	4295	6498	SO:0001819	synonymous_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10022928T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.801T>C	2.37:g.10022928T>C						TAF1B_ENST00000396242.3_Silent_p.G12G	p.G267G	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			8	989	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		267					B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	c.801T>C	CCDS33143.1																																																																																				0.323	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		23	34	0	0	0	1	0	23	34				
HEPACAM2	253012	broad.mit.edu	37	7	92848530	92848530	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92848530G>A	ENST00000394468.2	-	2	391	c.314C>T	c.(313-315)gCa>gTa	p.A105V	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A93V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A93V|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A128V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	105					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGCAGAGATGCATTGGGTGG	0.458																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(313-315)gCa>gTa		HEPACAM family member 2							157.0	138.0	144.0					7																	92848530		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92848530G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.314C>T	7.37:g.92848530G>A	ENSP00000377980:p.Ala105Val					HEPACAM2_ENST00000453812.2_Missense_Mutation_p.A128V|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.A93V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.A93V	p.A105V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			2	391	-			105					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.314C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802930	0.70682	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.102434	0.64402	D	0.000003	T	0.55986	0.1955	L	0.27053	0.805	0.46416	D	0.999035	P;P;P;P	0.49447	0.924;0.775;0.924;0.778	B;B;B;B	0.43701	0.402;0.428;0.38;0.262	T	0.55186	-0.8180	10	0.38643	T	0.18	-20.5258	20.269	0.98464	0.0:0.0:1.0:0.0	.	128;93;105;93	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	V	105;93;93;128	ENSP00000377980:A105V;ENSP00000340532:A93V;ENSP00000389592:A93V;ENSP00000390204:A128V	ENSP00000340532:A93V	A	-	2	0	HEPACAM2	92686466	1.000000	0.71417	0.976000	0.42696	0.799000	0.45148	5.652000	0.67959	2.878000	0.98634	0.650000	0.86243	GCA		0.458	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		4	53	0	0	0	1	0	4	53				
WDR59	79726	broad.mit.edu	37	16	74950052	74950052	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74950052G>A	ENST00000262144.6	-	12	1202	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	358										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTGCAGTGTGCTGGTGATCT	0.473																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1072-1074)Cac>Tac		WD repeat domain 59							167.0	133.0	144.0					16																	74950052		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74950052G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1072C>T	16.37:g.74950052G>A	ENSP00000262144:p.His358Tyr						p.H358Y	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			12	1202	-			358					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1072C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	4.983	0.182475	0.09495	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.71103	-0.54	5.55	5.55	0.83447	.	0.384241	0.31922	N	0.006855	T	0.56411	0.1983	N	0.24115	0.695	0.42602	D	0.993281	B;B	0.13594	0.008;0.001	B;B	0.13407	0.009;0.004	T	0.55244	-0.8171	10	0.02654	T	1	-18.9097	19.8667	0.96806	0.0:0.0:1.0:0.0	.	358;358	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	Y	358;337	ENSP00000262144:H358Y	ENSP00000262144:H358Y	H	-	1	0	WDR59	73507553	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	6.103000	0.71492	2.773000	0.95371	0.655000	0.94253	CAC		0.473	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		23	30	0	0	0	1	0	23	30				
EDEM2	55741	broad.mit.edu	37	20	33722573	33722573	+	Missense_Mutation	SNP	G	G	A	rs368321216		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33722573G>A	ENST00000374492.3	-	6	775	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Missense_Mutation_p.R183C|EDEM2_ENST00000374491.3_Missense_Mutation_p.R187C	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	224					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCCAGAGGCGCATCAAAGCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18434	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(547-549)Cgc>Tgc		ER degradation enhancer, mannosidase alpha-like 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	82.0	74.0	77.0		559,670	4.9	1.0	20		77	0,8600		0,0,4300	no	missense,missense	EDEM2	NM_001145025.1,NM_018217.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	187/542,224/579	33722573	1,13005	2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722573G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.670C>T	20.37:g.33722573G>A	ENSP00000363616:p.Arg224Cys					EDEM2_ENST00000374491.2_Missense_Mutation_p.R187C|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Missense_Mutation_p.R224C|EDEM2_ENST00000541621.1_5'UTR	p.R183C			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1268	-			224					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.547C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693924	0.68386	2.27E-4	0.0	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.42900	0.96;0.96;0.96	5.87	4.86	0.63082	.	0.190596	0.56097	D	0.000034	T	0.39253	0.1071	L	0.38175	1.15	0.48087	D	0.999587	P;P;P	0.52577	0.954;0.881;0.903	B;P;P	0.48677	0.174;0.451;0.586	T	0.17561	-1.0365	10	0.72032	D	0.01	-17.2399	9.4491	0.38714	0.0:0.3132:0.5683:0.1185	.	183;187;224	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	C	187;224;183	ENSP00000363615:R187C;ENSP00000363616:R224C;ENSP00000441548:R183C	ENSP00000363615:R187C	R	-	1	0	EDEM2	33186234	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	2.892000	0.48625	2.941000	0.99782	0.655000	0.94253	CGC		0.572	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		8	19	0	0	0	1	0	8	19				
CHRNA10	57053	broad.mit.edu	37	11	3688730	3688730	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3688730C>T	ENST00000250699.2	-	4	698	c.627G>A	c.(625-627)gcG>gcA	p.A209A	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Missense_Mutation_p.R27H	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	209					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CGCGCCGCCGCGCCGGCATGC	0.736																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000534359.1																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(79-81)cGc>cAc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						7.0	9.0	9.0					11																	3688730		2022	4012	6034	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688730C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.627G>A	11.37:g.3688730C>T						CHRNA10_ENST00000250699.2_Silent_p.A209A	p.R27H			Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	676	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	353						Missense_Mutation	SNP	ENST00000250699.2	37	c.80G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357706	0.24598	.	.	ENSG00000129749	ENST00000534359	.	.	.	5.22	-0.449	0.12226	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.29504	N	0.854692	.	.	.	.	.	.	T	0.47649	-0.9101	5	0.87932	D	0	.	6.9743	0.24666	0.0:0.2941:0.4377:0.2682	.	.	.	.	H	27	.	ENSP00000437107:R27H	R	-	2	0	CHRNA10	3645306	0.002000	0.14202	0.962000	0.40283	0.474000	0.32979	-0.190000	0.09615	-0.037000	0.13646	0.561000	0.74099	CGC		0.736	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			4	16	0	0	0	1	0	4	16				
ABCB5	340273	broad.mit.edu	37	7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2653-2655)Cgt>Tgt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							95.0	100.0	99.0					7																	20766690		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766690C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2653C>T	7.37:g.20766690C>T	ENSP00000384881:p.Arg885Cys					ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	p.R885C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			22	3305	+			440					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2653C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630084	0.67015	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91996	-2.95;-2.95	4.54	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.96839	0.8968	H	0.95114	3.625	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97146	0.9828	10	0.87932	D	0	.	11.2028	0.48751	0.0:0.9093:0.0:0.0907	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	C	885;440	ENSP00000384881:R885C;ENSP00000258738:R440C	ENSP00000258738:R440C	R	+	1	0	ABCB5	20733215	0.980000	0.34600	0.997000	0.53966	0.992000	0.81027	1.176000	0.31957	1.510000	0.48803	0.655000	0.94253	CGT		0.323	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		14	28	0	0	0	1	0	14	28				
COL11A1	1301	broad.mit.edu	37	1	103364241	103364241	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103364241C>T	ENST00000370096.3	-	56	4541	c.4229G>A	c.(4228-4230)cGg>cAg	p.R1410Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.R1294Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1371Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1422Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1410	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGGATGCCCCGAAGACCTTC	0.458																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4264-4266)cGg>cAg		collagen, type XI, alpha 1							45.0	48.0	47.0					1																	103364241		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364241C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4229G>A	1.37:g.103364241C>T	ENSP00000359114:p.Arg1410Gln					COL11A1_ENST00000353414.4_Missense_Mutation_p.R1371Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1410Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1294Q	p.R1422Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	56	4582	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1410			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4265G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122861	0.77436	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91875	0.7428	N	0.25201	0.72	0.58432	D	0.999994	D;D;P;D;D	0.89917	0.999;0.998;0.878;1.0;0.996	P;P;P;D;P	0.68765	0.874;0.801;0.613;0.96;0.731	D	0.92637	0.6121	10	0.56958	D	0.05	.	18.5617	0.91102	0.0:1.0:0.0:0.0	.	1294;1371;1422;1410;630	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Q	1410;1422;1371;630;1294	ENSP00000359114:R1410Q;ENSP00000351163:R1422Q;ENSP00000302551:R1371Q;ENSP00000426533:R1294Q	ENSP00000302551:R1371Q	R	-	2	0	COL11A1	103136829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.821000	0.97095	0.650000	0.86243	CGG		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	26	0	0	0	1	0	11	26				
RADIL	55698	broad.mit.edu	37	7	4917398	4917398	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4917398G>A	ENST00000399583.3	-	2	560	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	RADIL_ENST00000536091.1_Missense_Mutation_p.R125W	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	125	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCTGCCACCGCTGCCCAGCA	0.637																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(373-375)Cgg>Tgg		Ras association and DIL domains							46.0	53.0	51.0					7																	4917398		2013	4161	6174	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917398G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.373C>T	7.37:g.4917398G>A	ENSP00000382492:p.Arg125Trp					RADIL_ENST00000536091.1_Missense_Mutation_p.R125W	p.R125W	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	560	-		Ovarian(82;0.0175)	125			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.373C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983110	0.34942	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.31769	1.86;1.86;1.48	5.62	3.77	0.43336	Ras-association (3);	1.303560	0.04693	N	0.414454	T	0.43743	0.1261	L	0.36672	1.1	0.09310	N	0.999998	D	0.71674	0.998	P	0.57846	0.828	T	0.32161	-0.9917	10	0.66056	D	0.02	-8.4333	10.4363	0.44437	0.0:0.2749:0.5827:0.1424	.	125	Q96JH8	RADIL_HUMAN	W	125;99;125;125	ENSP00000382492:R125W;ENSP00000442533:R125W;ENSP00000398057:R125W	ENSP00000320946:R99W	R	-	1	2	RADIL	4883924	0.289000	0.24334	0.004000	0.12327	0.024000	0.10985	1.768000	0.38511	0.692000	0.31613	0.561000	0.74099	CGG		0.637	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		6	55	0	0	0	1	0	6	55				
ZNF585A	199704	broad.mit.edu	37	19	37643374	37643374	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37643374G>A	ENST00000356958.4	-	5	1685	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T421I|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T421I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACCGGTTGGTGAATGCCTT	0.413																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1426-1428)aCc>aTc		zinc finger protein 585A							111.0	108.0	109.0					19																	37643374		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643374G>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1427C>T	19.37:g.37643374G>A	ENSP00000349440:p.Thr476Ile					ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T421I|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T421I|ZNF585A_ENST00000588723.1_Intron	p.T476I			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1685	-			476					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1427C>T		.	.	.	.	.	.	.	.	.	.	G	4.393	0.072563	0.08436	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.36520	1.25;1.25;1.25	2.72	0.0427	0.14218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.412814	0.17883	N	0.158817	T	0.42449	0.1203	.	.	.	0.09310	N	1	P	0.49447	0.924	P	0.57776	0.827	T	0.28106	-1.0054	9	0.27785	T	0.31	.	9.4417	0.38673	0.0:0.6109:0.3891:0.0	.	476	Q6P3V2	Z585A_HUMAN	I	476;421;421	ENSP00000349440:T476I;ENSP00000292841:T421I;ENSP00000375998:T421I	ENSP00000292841:T421I	T	-	2	0	ZNF585A	42335214	0.000000	0.05858	0.014000	0.15608	0.291000	0.27294	-5.687000	0.00104	0.426000	0.26116	0.561000	0.74099	ACC		0.413	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		27	170	0	0	0	1	0	27	170				
ADIPOR1	51094	broad.mit.edu	37	1	202910745	202910745	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202910745G>A	ENST00000340990.5	-	8	1382	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R362C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	362					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCCGTAACGGAATTCCTGA	0.493																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(1084-1086)Cgt>Tgt		adiponectin receptor 1							78.0	79.0	79.0					1																	202910745		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202910745G>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.1084C>T	1.37:g.202910745G>A	ENSP00000341785:p.Arg362Cys					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R362C	p.R362C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		8	1382	-			362					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.1084C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749110	0.49257	.	.	ENSG00000159346	ENST00000340990;ENST00000436244	T;T	0.26518	1.73;1.73	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.92459	3.31	0.80722	D	1	P	0.46395	0.877	B	0.39904	0.313	T	0.56601	-0.7952	10	0.56958	D	0.05	.	13.6268	0.62170	0.0749:0.0:0.9251:0.0	.	362	Q96A54	ADR1_HUMAN	C	362	ENSP00000341785:R362C;ENSP00000395469:R362C	ENSP00000341785:R362C	R	-	1	0	ADIPOR1	201177368	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	9.760000	0.98935	1.480000	0.48289	-0.229000	0.12294	CGT		0.493	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		8	46	0	0	0	1	0	8	46				
EXPH5	23086	broad.mit.edu	37	11	108384689	108384689	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108384689A>G	ENST00000265843.4	-	6	1655	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.N327N|EXPH5_ENST00000428840.1_Silent_p.N439N|EXPH5_ENST00000525344.1_Silent_p.N508N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	515					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGATACACTATTTGCTTCCA	0.413																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1543-1545)aaT>aaC		exophilin 5							65.0	65.0	65.0					11																	108384689		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384689A>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1545T>C	11.37:g.108384689A>G						EXPH5_ENST00000525344.1_Silent_p.N508N|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.N439N|EXPH5_ENST00000443411.1_Silent_p.N327N	p.N515N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1655	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	515					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.1545T>C	CCDS8341.1																																																																																				0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		34	49	0	0	0	1	0	34	49				
TNXB	7148	broad.mit.edu	37	6	32029957	32029957	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32029957G>A	ENST00000375244.3	-	20	7346	c.7145C>T	c.(7144-7146)cCc>cTc	p.P2382L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2382L			P22105	TENX_HUMAN	tenascin XB	2444	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCAGACACGGGGCCCACACG	0.627																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7144-7146)cCc>cTc		tenascin XB							28.0	32.0	31.0					6																	32029957		1279	2531	3810	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029957G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7145C>T	6.37:g.32029957G>A	ENSP00000364393:p.Pro2382Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.P2382L	p.P2382L			P22105	TENX_HUMAN			20	7346	-			2444			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7145C>T		.	.	.	.	.	.	.	.	.	.	G	14.81	2.645232	0.47258	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.05649	3.41;3.41	4.52	4.52	0.55395	.	0.106857	0.42420	D	0.000718	T	0.24084	0.0583	M	0.92317	3.295	0.40681	D	0.982303	D	0.89917	1.0	D	0.85130	0.997	T	0.17745	-1.0359	10	0.56958	D	0.05	.	14.1598	0.65438	0.0:0.0:1.0:0.0	.	2382	P22105-3	.	L	2382	ENSP00000364393:P2382L;ENSP00000364396:P2382L	ENSP00000364393:P2382L	P	-	2	0	TNXB	32137935	1.000000	0.71417	0.073000	0.20177	0.130000	0.20726	3.831000	0.55776	2.036000	0.60181	0.655000	0.94253	CCC		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		19	23	0	0	0	1	0	19	23				
CEP170B	283638	broad.mit.edu	37	14	105353125	105353125	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105353125C>T	ENST00000414716.3	+	12	2777	c.2549C>T	c.(2548-2550)cCt>cTt	p.P850L	CEP170B_ENST00000418279.1_Missense_Mutation_p.P780L|CEP170B_ENST00000453495.1_Missense_Mutation_p.P851L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P780L	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	850						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CAGCTACGGCCTGGACGGTCC	0.677																																						ENST00000453495.1																			0											c.(2551-2553)cCt>cTt		centrosomal protein 170B							32.0	41.0	38.0					14																	105353125		2021	4155	6176	SO:0001583	missense	283638							g.chr14:105353125C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2549C>T	14.37:g.105353125C>T	ENSP00000404151:p.Pro850Leu					CEP170B_ENST00000418279.1_Missense_Mutation_p.P780L|CEP170B_ENST00000414716.3_Missense_Mutation_p.P850L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P780L	p.P851L							12	2780	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2552C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	4.779	0.144940	0.09134	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.42900	0.98;0.97;0.96;0.96	4.63	2.74	0.32292	.	0.828483	0.09751	N	0.760555	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27229	0.137;0.172;0.137	B;B;B	0.25140	0.023;0.039;0.058	T	0.22871	-1.0204	10	0.39692	T	0.17	0.0487	3.1655	0.06534	0.2959:0.4814:0.1294:0.0933	.	850;850;780	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	L	780;850;851;780	ENSP00000451249:P780L;ENSP00000404151:P850L;ENSP00000407238:P851L;ENSP00000415006:P780L	ENSP00000404151:P850L	P	+	2	0	KIAA0284	104424170	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.229000	0.17833	0.352000	0.24053	0.462000	0.41574	CCT		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	26	0	0	0	1	0	4	26				
ERBB2	2064	broad.mit.edu	37	17	37884170	37884170	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37884170G>A	ENST00000269571.5	+	27	3800	c.3641G>A	c.(3640-3642)aGc>aAc	p.S1214N	ERBB2_ENST00000541774.1_Missense_Mutation_p.S1199N|ERBB2_ENST00000445658.2_Missense_Mutation_p.S938N|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000540147.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000406381.2_Missense_Mutation_p.S1184N|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1214					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCTGCCTTCAGCCCAGCCTTC	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3550-3552)aGc>aAc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						48.0	54.0	52.0					17																	37884170		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884170G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3641G>A	17.37:g.37884170G>A	ENSP00000269571:p.Ser1214Asn	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.S938N|ERBB2_ENST00000269571.5_Missense_Mutation_p.S1214N|ERBB2_ENST00000584601.1_Missense_Mutation_p.S1184N|ERBB2_ENST00000541774.1_Missense_Mutation_p.S1199N|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000540147.1_Missense_Mutation_p.S1184N	p.S1184N	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	29	4061	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1214					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3551G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022607	0.54683	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76709	-1.04;-1.04;-1.03;-1.04;-1.04	4.44	4.44	0.53790	.	.	.	.	.	T	0.71117	0.3302	L	0.36672	1.1	0.80722	D	1	B;P;B	0.47253	0.006;0.892;0.203	B;P;B	0.44359	0.005;0.447;0.078	T	0.72704	-0.4213	9	0.45353	T	0.12	.	12.4608	0.55731	0.0:0.3015:0.6985:0.0	.	938;1199;1214	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	N	1184;1199;938;1214;1184	ENSP00000385185:S1184N;ENSP00000446466:S1199N;ENSP00000404047:S938N;ENSP00000269571:S1214N;ENSP00000443562:S1184N	ENSP00000269571:S1214N	S	+	2	0	ERBB2	35137696	0.984000	0.35163	1.000000	0.80357	0.992000	0.81027	2.027000	0.41078	2.287000	0.76781	0.563000	0.77884	AGC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			19	22	0	0	0	1	0	19	22				
EXTL1	2134	broad.mit.edu	37	1	26361404	26361404	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:26361404A>G	ENST00000374280.3	+	10	2624	c.1757A>G	c.(1756-1758)gAc>gGc	p.D586G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	586					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTGTGGACGTCCTGATG	0.582																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1756-1758)gAc>gGc		exostosin-like glycosyltransferase 1							161.0	162.0	161.0					1																	26361404		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26361404A>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1757A>G	1.37:g.26361404A>G	ENSP00000363398:p.Asp586Gly						p.D586G	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	10	2624	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	586					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1757A>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	A	34	5.359145	0.95854	.	.	ENSG00000158008	ENST00000374280	D	0.92199	-2.99	4.84	4.84	0.62591	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.062155	0.64402	D	0.000009	D	0.96574	0.8882	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97346	0.9960	10	0.87932	D	0	-13.7327	13.536	0.61646	1.0:0.0:0.0:0.0	.	586	Q92935	EXTL1_HUMAN	G	586	ENSP00000363398:D586G	ENSP00000363398:D586G	D	+	2	0	EXTL1	26233991	1.000000	0.71417	0.903000	0.35520	0.985000	0.73830	7.212000	0.77941	2.039000	0.60335	0.379000	0.24179	GAC		0.582	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		54	86	0	0	0	1	0	54	86				
PROX1	5629	broad.mit.edu	37	1	214171121	214171121	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214171121G>A	ENST00000366958.4	+	2	1851	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I|PROX1_ENST00000498508.2_Missense_Mutation_p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	415					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTTGGCGACGTCATCATTCC	0.567																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1243-1245)Gtc>Atc		prospero homeobox 1							104.0	104.0	104.0					1																	214171121		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171121G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1243G>A	1.37:g.214171121G>A	ENSP00000355925:p.Val415Ile					PROX1_ENST00000498508.2_Missense_Mutation_p.V415I|PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I	p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1851	+			415					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1243G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653966	0.67472	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50813	0.75;0.73;0.75;0.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.60214	-0.7307	10	0.24483	T	0.36	-5.2736	19.2456	0.93901	0.0:0.0:1.0:0.0	.	415	Q92786	PROX1_HUMAN	I	415	ENSP00000420283:V415I;ENSP00000355925:V415I;ENSP00000400694:V415I;ENSP00000261454:V415I	ENSP00000261454:V415I	V	+	1	0	PROX1	212237744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.548000	0.85928	0.591000	0.81541	GTC		0.567	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		21	55	0	0	0	1	0	21	55				
PLEKHG3	26030	broad.mit.edu	37	14	65208801	65208801	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65208801G>A	ENST00000394691.1	+	16	2713	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.A389T|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.A361T|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.A800T			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	856							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAGCTGGGAGCCATCACAGA	0.662																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2398-2400)Gcc>Acc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							28.0	32.0	31.0					14																	65208801		2203	4296	6499	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208801G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2566G>A	14.37:g.65208801G>A	ENSP00000378183:p.Ala856Thr					PLEKHG3_ENST00000394691.1_Missense_Mutation_p.A856T|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.A389T|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.A361T	p.A800T	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2706	+			856					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2398G>A		.	.	.	.	.	.	.	.	.	.	G	17.00	3.276746	0.59758	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.61510	0.55;0.1;1.43;1.42	6.08	5.19	0.71726	.	0.000000	0.64402	D	0.000005	T	0.66218	0.2767	L	0.43757	1.38	0.35710	D	0.81629	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.71951	-0.4437	10	0.38643	T	0.18	.	10.2856	0.43564	0.151:0.0:0.849:0.0	.	389;361;856;800	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	T	800;856;389;361	ENSP00000247226:A800T;ENSP00000378183:A856T;ENSP00000450945:A389T;ENSP00000450973:A361T	ENSP00000247226:A800T	A	+	1	0	PLEKHG3	64278554	0.993000	0.37304	0.999000	0.59377	0.855000	0.48748	2.429000	0.44758	1.590000	0.49995	0.655000	0.94253	GCC		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		12	24	0	0	0	1	0	12	24				
TCEB3C	162699	broad.mit.edu	37	18	44555064	44555064	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44555064C>T	ENST00000330682.2	-	1	1385	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	384	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGAGCGAGTGCGGCATTGTCT	0.572																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1150-1152)Gca>Aca		transcription elongation factor B polypeptide 3C (elongin A3)							480.0	437.0	451.0					18																	44555064		1969	3981	5950	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555064C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1150G>A	18.37:g.44555064C>T	ENSP00000328232:p.Ala384Thr					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.A384T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1385	-			384			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1150G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.670	0.686837	0.14973	.	.	ENSG00000183791	ENST00000330682	T	0.30981	1.51	1.75	0.785	0.18584	.	0.741625	0.11118	N	0.597712	T	0.15782	0.0380	N	0.24115	0.695	0.09310	N	1	D	0.55605	0.972	B	0.39840	0.311	T	0.14309	-1.0477	10	0.20046	T	0.44	-1.9857	5.8745	0.18822	0.0:0.6651:0.3349:0.0	.	384	Q8NG57	ELOA3_HUMAN	T	384	ENSP00000328232:A384T	ENSP00000328232:A384T	A	-	1	0	TCEB3C	42809062	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.322000	0.19576	0.287000	0.22375	0.485000	0.47835	GCA		0.572	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		23	908	0	0	0	1	0	23	908				
EXOC3	11336	broad.mit.edu	37	5	457049	457049	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:457049C>T	ENST00000512944.1	+	5	1281	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V	EXOC3_ENST00000315013.5_Silent_p.V364V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	375					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGTGGATGTCGGCACCCTGG	0.567																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1090-1092)gtC>gtT		exocyst complex component 3							97.0	103.0	101.0					5																	457049		2122	4236	6358	SO:0001819	synonymous_variant	11336				exocytosis|protein transport			g.chr5:457049C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1092C>T	5.37:g.457049C>T						EXOC3_ENST00000315013.5_Silent_p.V364V	p.V364V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	1281	+		Ovarian(839;0.0563)	375					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	c.1092C>T	CCDS54830.1																																																																																				0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		11	18	0	0	0	1	0	11	18				
BPIFB3	359710	broad.mit.edu	37	20	31643282	31643282	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31643282C>T	ENST00000375494.3	+	1	53	c.53C>T	c.(52-54)gCg>gTg	p.A18V	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	18	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A18V(1)									TGGGGCCTGGCGACTCCATGC	0.607																																						ENST00000375494.3																			1	Substitution - Missense(1)	p.A18V(1)	pancreas(1)								c.(52-54)gCg>gTg		BPI fold containing family B, member 3							100.0	95.0	97.0					20																	31643282		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31643282C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.53C>T	20.37:g.31643282C>T	ENSP00000364643:p.Ala18Val						p.A18V	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			1	53	+			18			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.53C>T	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	C	2.129	-0.399460	0.04865	.	.	ENSG00000186190	ENST00000375494	T	0.01335	5.0	4.9	-9.81	0.00487	.	1.007380	0.07988	N	0.986689	T	0.00875	0.0029	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49854	-0.8895	10	0.02654	T	1	-4.1004	13.8282	0.63363	0.0:0.1344:0.0973:0.7684	.	18	P59826	BPIB3_HUMAN	V	18	ENSP00000364643:A18V	ENSP00000364643:A18V	A	+	2	0	BPIFB3	31106943	0.000000	0.05858	0.001000	0.08648	0.721000	0.41392	-2.884000	0.00713	-2.418000	0.00566	-1.786000	0.00637	GCG		0.607	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		8	41	0	0	0	1	0	8	41				
USP6NL	9712	broad.mit.edu	37	10	11505719	11505719	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:11505719C>T	ENST00000609104.1	-	15	1602	c.1208G>A	c.(1207-1209)aGg>aAg	p.R403K	USP6NL_ENST00000379237.2_Missense_Mutation_p.R426K|USP6NL_ENST00000277575.5_Missense_Mutation_p.R420K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	403					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCGCTCTCCCTCCTGCCGCT	0.692																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1207-1209)aGg>aAg		USP6 N-terminal like							19.0	23.0	22.0					10																	11505719		1917	4108	6025	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505719C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1208G>A	10.37:g.11505719C>T	ENSP00000476462:p.Arg403Lys					USP6NL_ENST00000277575.5_Missense_Mutation_p.R420K	p.R403K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1602	-			403					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1208G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	7.540	0.660467	0.14645	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03889	3.77;3.78	5.68	1.53	0.23141	.	0.299240	0.36591	N	0.002514	T	0.03739	0.0106	L	0.47716	1.5	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.15052	0.003;0.012	T	0.42481	-0.9449	10	0.18276	T	0.48	.	2.4703	0.04562	0.2205:0.4732:0.154:0.1523	.	403;420	Q92738;Q92738-2	US6NL_HUMAN;.	K	403;420;403	ENSP00000277575:R420K;ENSP00000368539:R403K	ENSP00000277575:R420K	R	-	2	0	USP6NL	11545725	0.980000	0.34600	0.001000	0.08648	0.000000	0.00434	0.361000	0.20267	0.431000	0.26258	-1.083000	0.02208	AGG		0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		4	11	0	0	0	1	0	4	11				
HRC	3270	broad.mit.edu	37	19	49657622	49657622	+	Silent	SNP	G	G	A	rs142129715		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49657622G>A	ENST00000252825.4	-	1	1059	c.873C>T	c.(871-873)cgC>cgT	p.R291R	HRC_ENST00000595625.1_Silent_p.R291R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	291	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCTGGGGTCGCGATGATGGT	0.512																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(871-873)cgC>cgT		histidine rich calcium binding protein		G		1,4405	2.1+/-5.4	0,1,2202	162.0	125.0	138.0		873	-5.7	0.0	19	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous	HRC	NM_002152.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		291/700	49657622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657622G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.873C>T	19.37:g.49657622G>A						HRC_ENST00000595625.1_Silent_p.R291R	p.R291R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1059	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	291			4 X tandem repeats, acidic.|6 X approximate tandem repeats.		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.873C>T	CCDS12759.1																																																																																				0.512	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		20	37	0	0	0	1	0	20	37				
RALGAPA2	57186	broad.mit.edu	37	20	20517421	20517421	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20517421C>T	ENST00000202677.7	-	25	3300	c.3293G>A	c.(3292-3294)cGt>cAt	p.R1098H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1098					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCCTCTGAACGAGGCGCCTG	0.433																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3292-3294)cGt>cAt		Ral GTPase activating protein, alpha subunit 2 (catalytic)							51.0	51.0	51.0					20																	20517421		1891	4114	6005	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517421C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3293G>A	20.37:g.20517421C>T	ENSP00000202677:p.Arg1098His						p.R1098H	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3435	-			1098					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3293G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.43|12.43	1.936329|1.936329	0.34189|0.34189	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.79247|.	-1.25|.	5.61|5.61	2.57|2.57	0.30868|0.30868	.|.	0.110120|.	0.64402|.	N|.	0.000012|.	T|T	0.73171|0.73171	0.3553|0.3553	M|M	0.83223|0.83223	2.63|2.63	0.41741|0.41741	D|D	0.989613|0.989613	B;B|.	0.26147|.	0.143;0.143|.	B;B|.	0.29785|.	0.107;0.107|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.54805|.	T|.	0.06|.	.|.	10.3241|10.3241	0.43783|0.43783	0.0:0.7861:0.0:0.2139|0.0:0.7861:0.0:0.2139	.|.	936;1098|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	H|I	1098|915	ENSP00000202677:R1098H|.	ENSP00000202677:R1098H|.	R|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20465421|20465421	0.998000|0.998000	0.40836|0.40836	0.434000|0.434000	0.26772|0.26772	0.244000|0.244000	0.25665|0.25665	3.994000|3.994000	0.56994|0.56994	0.296000|0.296000	0.22592|0.22592	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.433	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	11	0	0	0	1	0	3	11				
MYO10	4651	broad.mit.edu	37	5	16675191	16675191	+	Silent	SNP	G	G	A	rs199723519		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16675191G>A	ENST00000513610.1	-	35	5189	c.4735C>T	c.(4735-4737)Ctg>Ttg	p.L1579L	MYO10_ENST00000505695.1_Silent_p.L918L|MYO10_ENST00000515803.1_Silent_p.L918L|MYO10_ENST00000274203.9_Silent_p.L936L|MYO10_ENST00000427430.2_Silent_p.L936L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1579	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATGGACTCCAGTTGCTGCAGG	0.498																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4735-4737)Ctg>Ttg		myosin X							101.0	96.0	98.0					5																	16675191		2029	4181	6210	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16675191G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4735C>T	5.37:g.16675191G>A						MYO10_ENST00000427430.2_Silent_p.L936L|MYO10_ENST00000505695.1_Silent_p.L918L|MYO10_ENST00000274203.9_Silent_p.L936L|MYO10_ENST00000515803.1_Silent_p.L918L	p.L1579L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			35	5189	-			1579			MyTH4.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.4735C>T	CCDS54834.1																																																																																				0.498	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	19	0	0	0	1	0	11	19				
ELOF1	84337	broad.mit.edu	37	19	11664579	11664579	+	Silent	SNP	G	G	A	rs139453256		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11664579G>A	ENST00000252445.3	-	4	297	c.234C>T	c.(232-234)tgC>tgT	p.C78C	ELOF1_ENST00000587806.1_Silent_p.C99C|ELOF1_ENST00000589171.1_3'UTR|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000591674.1_Silent_p.C85C|ELOF1_ENST00000586120.1_Silent_p.C78C|ELOF1_ENST00000590700.1_Silent_p.C78C	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(3)|lung(2)	5						TGGCCGCCTCGCAGGCGTCTA	0.592																																						ENST00000587806.1																			0				endometrium(3)|lung(2)	5						c.(295-297)tgC>tgT		elongation factor 1 homolog (S. cerevisiae)		G		2,4404	4.2+/-10.8	0,2,2201	70.0	67.0	68.0		234	-3.2	1.0	19	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	ELOF1	NM_032377.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		78/84	11664579	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr19:11664579G>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"""elongation factor 1 homolog (ELF1, S. cerevisiae)"""			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.234C>T	19.37:g.11664579G>A						ELOF1_ENST00000252445.3_Silent_p.C78C|ELOF1_ENST00000591674.1_Silent_p.C85C|ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000590700.1_Silent_p.C78C|ELOF1_ENST00000589171.1_3'UTR|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000586120.1_Silent_p.C78C	p.C99C			P60002	ELOF1_HUMAN			5	454	-			78					Q8R1J7|Q96II4	Silent	SNP	ENST00000252445.3	37	c.297C>T	CCDS12264.1																																																																																				0.592	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377		13	25	0	0	0	1	0	13	25				
BCAR3	8412	broad.mit.edu	37	1	94049651	94049651	+	Silent	SNP	G	G	A	rs143814614		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:94049651G>A	ENST00000370244.1	-	8	1245	c.957C>T	c.(955-957)ccC>ccT	p.P319P	BCAR3_ENST00000370247.3_Silent_p.P228P|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.P319P|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370243.1_Silent_p.P319P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	319					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.P319P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCAGGCAGGCGGGCTGGCTAC	0.468																																						ENST00000370244.1																			1	Substitution - coding silent(1)	p.P319P(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(955-957)ccC>ccT		breast cancer anti-estrogen resistance 3		G		0,4406		0,0,2203	89.0	87.0	88.0		957	-11.1	0.7	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCAR3	NM_003567.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		319/826	94049651	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94049651G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.957C>T	1.37:g.94049651G>A						BCAR3_ENST00000370247.3_Silent_p.P228P|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.P319P|BCAR3_ENST00000370243.1_Silent_p.P319P|BCAR3_ENST00000539242.1_5'UTR	p.P319P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	8	1245	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	319					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.957C>T	CCDS745.1																																																																																				0.468	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			22	18	0	0	0	1	0	22	18				
TTN	7273	broad.mit.edu	37	2	179639725	179639725	+	Missense_Mutation	SNP	G	G	A	rs201284459		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179639725G>A	ENST00000591111.1	-	29	6937	c.6713C>T	c.(6712-6714)aCg>aTg	p.T2238M	TTN_ENST00000342992.6_Missense_Mutation_p.T2238M|TTN_ENST00000360870.5_Missense_Mutation_p.T2238M|TTN_ENST00000359218.5_Missense_Mutation_p.T2192M|TTN_ENST00000460472.2_Missense_Mutation_p.T2192M|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T2238M|TTN_ENST00000342175.6_Missense_Mutation_p.T2192M|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12565	Ig-like 11.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATCAGACGTATCAATGGT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6712-6714)aCg>aTg		titin							160.0	149.0	153.0					2																	179639725		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639725G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6713C>T	2.37:g.179639725G>A	ENSP00000465570:p.Thr2238Met					TTN_ENST00000342175.6_Missense_Mutation_p.T2192M|TTN_ENST00000360870.5_Missense_Mutation_p.T2238M|TTN_ENST00000591111.1_Missense_Mutation_p.T2238M|TTN_ENST00000460472.2_Missense_Mutation_p.T2192M|TTN_ENST00000342992.6_Missense_Mutation_p.T2238M|TTN_ENST00000359218.5_Missense_Mutation_p.T2192M	p.T2238M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6937	-			1970			Ig-like 11.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6713C>T		.	.	.	.	.	.	.	.	.	.	G	7.523	0.657129	0.14580	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.62	2.43	0.29744	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01835	0.0058	N	0.01405	-0.89	0.09310	N	1	B;B;B;B;B	0.12013	0.002;0.002;0.002;0.002;0.005	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.002;0.003	T	0.44544	-0.9321	9	0.87932	D	0	.	4.1654	0.10305	0.3948:0.0:0.4485:0.1567	.	2192;2192;2192;2238;2238	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	2238;2192;2192;2192;2192;2238	ENSP00000343764:T2238M;ENSP00000434586:T2192M;ENSP00000340554:T2192M;ENSP00000352154:T2192M;ENSP00000354117:T2238M	ENSP00000340554:T2192M	T	-	2	0	TTN	179347970	0.099000	0.21834	0.000000	0.03702	0.781000	0.44180	2.701000	0.47094	0.333000	0.23563	-1.151000	0.01829	ACG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	40	0	0	0	1	0	10	40				
SPRR2D	6703	broad.mit.edu	37	1	153012804	153012804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153012804G>A	ENST00000368757.1	-	2	299	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q7*			P22532	SPR2D_HUMAN	small proline-rich protein 2D	7					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTTGCACTGCTGCTGTTGA	0.557																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(19-21)Cag>Tag		small proline-rich protein 2D							27.0	26.0	26.0					1																	153012804		2177	4262	6439	SO:0001587	stop_gained	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012804G>A	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.19C>T	1.37:g.153012804G>A	ENSP00000357746:p.Gln7*					SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.Q7*|SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.Q7*	p.Q7*			P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	299	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7					A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Nonsense_Mutation	SNP	ENST00000368757.1	37	c.19C>T	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	37	6.099109	0.97281	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	.	.	.	3.82	3.82	0.43975	.	0.000000	0.33834	N	0.004505	.	.	.	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5529	0.50731	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	ENSP00000353542:Q7X	Q	-	1	0	SPRR2D	151279428	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.008000	0.49544	1.842000	0.53543	0.455000	0.32223	CAG		0.557	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			11	53	0	0	0	1	0	11	53				
MYO10	4651	broad.mit.edu	37	5	16780631	16780631	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:16780631A>G	ENST00000513610.1	-	8	1281		c.e8+1			NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGTCCCACTCACCTCTTTCTT	0.403																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.e8+1		myosin X							85.0	81.0	82.0					5																	16780631		1989	4151	6140	SO:0001630	splice_region_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16780631A>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.826+1T>C	5.37:g.16780631A>G								NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			8	1281	-								A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Splice_Site	SNP	ENST00000513610.1	37		CCDS54834.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591207	0.86851	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO10	16833631	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	8.752000	0.91632	2.266000	0.75297	0.533000	0.62120	.		0.403	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	Intron	4	3	0	0	0	1	0	4	3				
C4orf19	55286	broad.mit.edu	37	4	37592465	37592465	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:37592465C>T	ENST00000284437.6	+	3	966	c.788C>T	c.(787-789)gCc>gTc	p.A263V	C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.A263V|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	263										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CCTGTTCATGCCATGCCTGTG	0.522																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(787-789)gCc>gTc		chromosome 4 open reading frame 19							112.0	106.0	108.0					4																	37592465		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592465C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.788C>T	4.37:g.37592465C>T	ENSP00000284437:p.Ala263Val					C4orf19_ENST00000381980.4_Missense_Mutation_p.A263V|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000508175.1_Intron	p.A263V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	966	+			263					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.788C>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	C	0.869	-0.732777	0.03135	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.26518	1.73;1.73	4.91	-1.52	0.08637	.	1.391650	0.04586	N	0.395836	T	0.08626	0.0214	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26052	-1.0114	10	0.02654	T	1	-1.2777	4.0193	0.09658	0.2883:0.2466:0.0:0.465	.	263	Q8IY42	CD019_HUMAN	V	263	ENSP00000371408:A263V;ENSP00000284437:A263V	ENSP00000284437:A263V	A	+	2	0	C4orf19	37268860	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.695000	0.05109	-0.142000	0.11354	-0.216000	0.12614	GCC		0.522	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		22	33	0	0	0	1	0	22	33				
SUSD2	56241	broad.mit.edu	37	22	24582104	24582104	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24582104C>T	ENST00000358321.3	+	9	1721	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	487	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAGGCGCGGGCCCAGCCCGGG	0.652																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1459-1461)gCc>gTc		sushi domain containing 2							19.0	20.0	20.0					22																	24582104		2201	4296	6497	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582104C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1460C>T	22.37:g.24582104C>T	ENSP00000351075:p.Ala487Val						p.A487V	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			9	1721	+			487			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1460C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736853	0.69304	.	.	ENSG00000099994	ENST00000358321	T	0.59083	0.29	5.05	5.05	0.67936	von Willebrand factor, type D domain (3);	0.167896	0.51477	D	0.000096	T	0.52869	0.1761	L	0.36672	1.1	0.40199	D	0.977495	P	0.46859	0.885	P	0.48770	0.589	T	0.44742	-0.9308	10	0.12103	T	0.63	-28.2626	14.3393	0.66614	0.0:1.0:0.0:0.0	.	487	Q9UGT4	SUSD2_HUMAN	V	487	ENSP00000351075:A487V	ENSP00000351075:A487V	A	+	2	0	SUSD2	22912104	0.403000	0.25319	0.786000	0.31890	0.561000	0.35649	5.043000	0.64208	2.546000	0.85860	0.555000	0.69702	GCC		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		8	11	0	0	0	1	0	8	11				
ULK1	8408	broad.mit.edu	37	12	132403156	132403156	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132403156C>T	ENST00000321867.4	+	23	2792	c.2441C>T	c.(2440-2442)cCc>cTc	p.P814L	ULK1_ENST00000540647.1_Missense_Mutation_p.P59L	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	814					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TTTGCCGACCCCATTACTGCG	0.667																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(2440-2442)cCc>cTc		unc-51 like autophagy activating kinase 1							15.0	16.0	16.0					12																	132403156		2183	4274	6457	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132403156C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2441C>T	12.37:g.132403156C>T	ENSP00000324560:p.Pro814Leu					ULK1_ENST00000540647.1_Missense_Mutation_p.P59L	p.P814L	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	23	2792	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		814					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2441C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694394	0.68386	.	.	ENSG00000177169	ENST00000321867;ENST00000541761;ENST00000540647	T;T;T	0.47528	0.84;0.84;0.84	5.21	4.32	0.51571	.	0.130407	0.52532	N	0.000077	T	0.57519	0.2059	M	0.65975	2.015	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	T	0.61088	-0.7133	10	0.52906	T	0.07	-22.9398	13.4926	0.61405	0.0:0.9244:0.0:0.0756	.	814	O75385	ULK1_HUMAN	L	814;162;59	ENSP00000324560:P814L;ENSP00000444298:P162L;ENSP00000441794:P59L	ENSP00000324560:P814L	P	+	2	0	ULK1	130969109	0.950000	0.32346	0.658000	0.29665	0.159000	0.22180	3.768000	0.55295	1.202000	0.43218	0.561000	0.74099	CCC		0.667	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			5	6	0	0	0	1	0	5	6				
NCDN	23154	broad.mit.edu	37	1	36029409	36029409	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36029409C>T	ENST00000373243.2	+	6	2035	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	NCDN_ENST00000356090.4_Missense_Mutation_p.T551M|NCDN_ENST00000373253.3_Missense_Mutation_p.T534M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	551					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACCCTCATGACGTCGCTACCA	0.572																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1651-1653)aCg>aTg		neurochondrin							128.0	121.0	124.0					1																	36029409		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029409C>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1652C>T	1.37:g.36029409C>T	ENSP00000362340:p.Thr551Met					NCDN_ENST00000373253.3_Missense_Mutation_p.T534M|NCDN_ENST00000356090.4_Missense_Mutation_p.T551M	p.T551M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			6	2035	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	551					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1652C>T	CCDS392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791218|2.791218	0.50102|0.50102	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000423723|ENST00000373253;ENST00000356090;ENST00000373243	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.250456	.|0.38837	.|N	.|0.001560	T|T	0.39545|0.39545	0.1082|0.1082	L|L	0.34521|0.34521	1.04|1.04	0.31314|0.31314	N|N	0.686797|0.686797	.|D	.|0.63880	.|0.993	.|P	.|0.50082	.|0.63	T|T	0.47774|0.47774	-0.9091|-0.9091	5|9	.|0.51188	.|T	.|0.08	.|.	10.7507|10.7507	0.46207|0.46207	0.3082:0.6918:0.0:0.0|0.3082:0.6918:0.0:0.0	.|.	.|551	.|Q9UBB6	.|NCDN_HUMAN	C|M	145|534;551;551	.|.	.|ENSP00000348394:T551M	R|T	+|+	1|2	0|0	NCDN|NCDN	35801996|35801996	0.986000|0.986000	0.35501|0.35501	0.987000|0.987000	0.45799|0.45799	0.588000|0.588000	0.36517|0.36517	2.921000|2.921000	0.48852|0.48852	2.157000|2.157000	0.67596|0.67596	0.462000|0.462000	0.41574|0.41574	CGT|ACG		0.572	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		12	72	0	0	0	1	0	12	72				
MAST2	23139	broad.mit.edu	37	1	46494520	46494520	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46494520G>A	ENST00000361297.2	+	18	2416	c.2133G>A	c.(2131-2133)atG>atA	p.M711I	MAST2_ENST00000372009.2_Missense_Mutation_p.M641I	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGGGCCATGGGCATTATCC	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2131-2133)atG>atA		microtubule associated serine/threonine kinase 2							186.0	190.0	189.0					1																	46494520		2030	4203	6233	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494520G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2133G>A	1.37:g.46494520G>A	ENSP00000354671:p.Met711Ile					MAST2_ENST00000372009.2_Missense_Mutation_p.M641I|MAST2_ENST00000372008.1_Missense_Mutation_p.M596I	p.M711I	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			18	2416	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		711			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.2133G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053892	0.75960	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.22945	1.93;1.93;1.93	4.83	3.85	0.44370	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043886	0.85682	D	0.000000	T	0.16300	0.0392	N	0.04043	-0.29	0.80722	D	1	B;B;B;P	0.37370	0.003;0.238;0.31;0.592	B;B;B;B	0.41174	0.004;0.101;0.056;0.349	T	0.25882	-1.0119	10	0.87932	D	0	-17.6874	14.938	0.70973	0.0:0.0:0.857:0.143	.	641;385;641;711	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	I	711;641;385;596	ENSP00000354671:M711I;ENSP00000361079:M641I;ENSP00000361078:M596I	ENSP00000354671:M711I	M	+	3	0	MAST2	46267107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.904000	0.87408	2.370000	0.80446	0.561000	0.74099	ATG		0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		54	100	0	0	0	1	0	54	100				
DCAF11	80344	broad.mit.edu	37	14	24588974	24588974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24588974C>T	ENST00000446197.3	+	11	1688	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	DCAF11_ENST00000396936.1_Nonsense_Mutation_p.Q221*|DCAF11_ENST00000396941.4_Nonsense_Mutation_p.Q295*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.Q321*|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	321					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TATAAGCTCCCAAATCCTGTT	0.522																																						ENST00000446197.3																			0											c.(961-963)Caa>Taa		DDB1 and CUL4 associated factor 11							103.0	92.0	95.0					14																	24588974		2203	4300	6503	SO:0001587	stop_gained	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588974C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.961C>T	14.37:g.24588974C>T	ENSP00000415556:p.Gln321*					DCAF11_ENST00000396941.4_Nonsense_Mutation_p.Q295*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.Q321*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.Q221*	p.Q321*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1688	+			321					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Nonsense_Mutation	SNP	ENST00000446197.3	37	c.961C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	41	8.922172	0.99004	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.97	5.97	0.96955	.	0.107189	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4935	17.9218	0.88969	0.0:1.0:0.0:0.0	.	.	.	.	X	321;295;221;295	.	ENSP00000323680:Q321X	Q	+	1	0	DCAF11	23658814	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CAA		0.522	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			18	24	0	0	0	1	0	18	24				
CNR1	1268	broad.mit.edu	37	6	88853988	88853988	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88853988G>A	ENST00000537554.1	-	2	4568	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CNR1_ENST00000428600.2_Missense_Mutation_p.R336C|CNR1_ENST00000549716.1_Missense_Mutation_p.R275C|CNR1_ENST00000468898.1_Missense_Mutation_p.R303C|CNR1_ENST00000535130.1_Missense_Mutation_p.R336C|CNR1_ENST00000369501.2_Missense_Mutation_p.R336C|CNR1_ENST00000549890.1_Missense_Mutation_p.R336C|CNR1_ENST00000369499.2_Missense_Mutation_p.R336C|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	336					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGTCCATGCGGGCTTGGTCT	0.567																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1006-1008)Cgc>Tgc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						162.0	169.0	166.0					6																	88853988		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853988G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1006C>T	6.37:g.88853988G>A	ENSP00000441046:p.Arg336Cys					CNR1_ENST00000468898.1_Missense_Mutation_p.R303C|CNR1_ENST00000428600.2_Missense_Mutation_p.R336C|CNR1_ENST00000549890.1_Missense_Mutation_p.R336C|CNR1_ENST00000369499.2_Missense_Mutation_p.R336C|CNR1_ENST00000369501.2_Missense_Mutation_p.R336C|CNR1_ENST00000549716.1_Missense_Mutation_p.R275C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R336C	p.R336C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4568	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	336					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1006C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888959	0.72524	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.66972	-0.5788	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	303;336	P21554-3;P21554	.;CNR1_HUMAN	C	336;336;336;336;336;303;336;275	ENSP00000358513:R336C;ENSP00000442689:R336C;ENSP00000441046:R336C;ENSP00000358511:R336C;ENSP00000446819:R336C;ENSP00000420188:R303C;ENSP00000412192:R336C;ENSP00000449549:R275C	ENSP00000358511:R336C	R	-	1	0	CNR1	88910707	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.869000	0.99810	2.880000	0.98712	0.655000	0.94253	CGC		0.567	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			22	30	0	0	0	1	0	22	30				
RGS7	6000	broad.mit.edu	37	1	241033418	241033418	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:241033418G>A	ENST00000407727.1	-	6	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	RGS7_ENST00000366565.1_Splice_Site_p.A129A|RGS7_ENST00000348120.2_Splice_Site_p.A76A|RGS7_ENST00000401882.1_Splice_Site_p.A76A|RGS7_ENST00000446183.2_Splice_Site_p.A45A|RGS7_ENST00000366562.4_Splice_Site_p.A129A|RGS7_ENST00000366564.1_Splice_Site_p.A129A|RGS7_ENST00000331110.7_Splice_Site_p.A103A|RGS7_ENST00000366563.1_Splice_Site_p.A129A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	129					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGAGGTAAACGGCTGAAAAAA	0.413																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.e7-1		regulator of G-protein signaling 7							164.0	143.0	150.0					1																	241033418		2203	4300	6503	SO:0001630	splice_region_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241033418G>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.386-1C>T	1.37:g.241033418G>A						RGS7_ENST00000446183.2_Splice_Site_p.A45_splice|RGS7_ENST00000331110.7_Splice_Site_p.A103_splice|RGS7_ENST00000366563.1_Splice_Site_p.A129_splice|RGS7_ENST00000348120.2_Splice_Site_p.A76_splice|RGS7_ENST00000401882.1_Splice_Site_p.A76_splice|RGS7_ENST00000366564.1_Splice_Site_p.A129_splice|RGS7_ENST00000366562.4_Splice_Site_p.A129_splice|RGS7_ENST00000407727.1_Splice_Site_p.A129_splice	p.A129_splice	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		7	768	-		all_cancers(173;0.0131)	129					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Splice_Site	SNP	ENST00000407727.1	37	c.385_splice																																																																																					0.413	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	Silent	29	41	0	0	0	1	0	29	41				
HDAC4	9759	broad.mit.edu	37	2	240111765	240111765	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:240111765C>T	ENST00000345617.3	-	4	894	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	HDAC4_ENST00000541256.1_Missense_Mutation_p.A4T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	35					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGCCGTGGCCACATCCACT	0.672																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(103-105)Gcc>Acc		histone deacetylase 4							15.0	17.0	16.0					2																	240111765		2137	4148	6285	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111765C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.103G>A	2.37:g.240111765C>T	ENSP00000264606:p.Ala35Thr					HDAC4_ENST00000541256.1_Missense_Mutation_p.A4T	p.A35T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	894	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	35					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.103G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	7.507	0.653896	0.14580	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.57907	0.37;1.53;0.95;0.96	4.46	3.31	0.37934	.	0.306715	0.31370	N	0.007767	T	0.24122	0.0584	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.0	T	0.13019	-1.0525	9	.	.	.	.	3.3305	0.07083	0.0:0.5839:0.0:0.4161	.	30;4;4;35	B7Z8G5;F5H5W4;B7Z8I2;P56524	.;.;.;HDAC4_HUMAN	T	35;4;4;8	ENSP00000264606:A35T;ENSP00000443057:A4T;ENSP00000405226:A4T;ENSP00000392912:A8T	.	A	-	1	0	HDAC4	239776702	0.993000	0.37304	0.901000	0.35422	0.115000	0.19883	2.377000	0.44300	2.216000	0.71823	0.650000	0.86243	GCC		0.672	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		9	12	0	0	0	1	0	9	12				
CXXC5	51523	broad.mit.edu	37	5	139060706	139060706	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139060706G>A	ENST00000302517.3	+	2	1312	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	CXXC5_ENST00000511048.1_Missense_Mutation_p.E200K|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	200					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGTGCCGAAGCCCTCAA	0.637																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(598-600)Gaa>Aaa		CXXC finger protein 5							25.0	31.0	29.0					5																	139060706		2115	4225	6340	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060706G>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.598G>A	5.37:g.139060706G>A	ENSP00000302543:p.Glu200Lys					CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.E200K	p.E200K	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1312	+			200					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.598G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839117	0.71373	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.67	5.67	0.87782	.	0.102860	0.64402	D	0.000003	T	0.36771	0.0979	N	0.24115	0.695	0.54753	D	0.999988	P	0.36483	0.555	B	0.27262	0.078	T	0.17806	-1.0357	9	0.22109	T	0.4	-8.6298	17.9352	0.89010	0.0:0.0:1.0:0.0	.	200	Q7LFL8	CXXC5_HUMAN	K	200	.	ENSP00000302543:E200K	E	+	1	0	CXXC5	139040890	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.984000	0.93482	2.676000	0.91093	0.555000	0.69702	GAA		0.637	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		8	7	0	0	0	1	0	8	7				
HSPG2	3339	broad.mit.edu	37	1	22192252	22192252	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22192252G>A	ENST00000374695.3	-	34	4351	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1424	Laminin IV type A 3. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCCTGTGGGCCTGCTGTGT	0.622																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4270-4272)ggC>ggT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						164.0	139.0	148.0					1																	22192252		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22192252G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4272C>T	1.37:g.22192252G>A							p.G1424G	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	34	4351	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1424			Laminin IV type A 3.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.4272C>T	CCDS30625.1																																																																																				0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		37	102	0	0	0	1	0	37	102				
MRGPRE	116534	broad.mit.edu	37	11	3249706	3249706	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3249706G>A	ENST00000389832.5	-	2	630	c.324C>T	c.(322-324)atC>atT	p.I108I	MRGPRE_ENST00000436689.2_Silent_p.I107I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGGCCCACGATGTAGCAGA	0.682																																						ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)atC>atT		MAS-related GPR, member E							29.0	38.0	35.0					11																	3249706		2177	4276	6453	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249706G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.324C>T	11.37:g.3249706G>A						AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.I107I	p.I108I			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	630	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	107					Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.324C>T																																																																																					0.682	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		7	17	0	0	0	1	0	7	17				
ANGEL2	90806	broad.mit.edu	37	1	213181729	213181729	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:213181729A>T	ENST00000366962.3	-	3	619	c.465T>A	c.(463-465)gaT>gaA	p.D155E	ANGEL2_ENST00000540642.1_Missense_Mutation_p.D29E|ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000544555.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	155										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CACATTTGGGATCAACATTTT	0.333																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(463-465)gaT>gaA		angel homolog 2 (Drosophila)							159.0	154.0	156.0					1																	213181729		2202	4300	6502	SO:0001583	missense	90806							g.chr1:213181729A>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.465T>A	1.37:g.213181729A>T	ENSP00000355929:p.Asp155Glu					ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D29E|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000544555.1_5'UTR	p.D155E	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	619	-			155					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.465T>A	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	A	7.416	0.635639	0.14322	.	.	ENSG00000174606	ENST00000366962;ENST00000540642;ENST00000310246	T;T	0.28895	1.98;1.59	5.76	0.412	0.16397	.	0.253145	0.34411	N	0.003989	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	0.999991	B;B;B	0.20887	0.001;0.049;0.001	B;B;B	0.17433	0.003;0.018;0.001	T	0.29731	-1.0002	10	0.11794	T	0.64	-10.8285	5.9211	0.19082	0.249:0.2404:0.5106:0.0	.	29;133;155	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	E	155;29;133	ENSP00000355929:D155E;ENSP00000446124:D29E	ENSP00000309755:D133E	D	-	3	2	ANGEL2	211248352	0.732000	0.28121	0.012000	0.15200	0.885000	0.51271	0.457000	0.21875	-0.182000	0.10602	-0.250000	0.11733	GAT		0.333	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		4	76	0	0	0	1	0	4	76				
SLC8A2	6543	broad.mit.edu	37	19	47951338	47951338	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47951338G>A	ENST00000236877.6	-	4	1886	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.D253D|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	497					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCCCGCCGCCGTCCGGCTCGA	0.687																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(1489-1491)gaC>gaT		solute carrier family 8 (sodium/calcium exchanger), member 2							13.0	14.0	13.0					19																	47951338		2180	4250	6430	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47951338G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1491C>T	19.37:g.47951338G>A						SLC8A2_ENST00000542837.1_Silent_p.D253D|SLC8A2_ENST00000539381.1_Intron	p.D497D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	4	1886	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	497					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.1491C>T	CCDS33065.1																																																																																				0.687	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	5	0	0	0	1	0	6	5				
BSN	8927	broad.mit.edu	37	3	49691866	49691866	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49691866C>T	ENST00000296452.4	+	5	4991	c.4877C>T	c.(4876-4878)cCc>cTc	p.P1626L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1626					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGATGGGCCCCTGGCACTA	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4876-4878)cCc>cTc		bassoon presynaptic cytomatrix protein							35.0	35.0	35.0					3																	49691866		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691866C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4877C>T	3.37:g.49691866C>T	ENSP00000296452:p.Pro1626Leu						p.P1626L	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4991	+			1626					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4877C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	6.678	0.493642	0.12702	.	.	ENSG00000164061	ENST00000296452	T	0.16324	2.35	5.33	3.35	0.38373	.	0.537042	0.19700	N	0.108077	T	0.08714	0.0216	N	0.19112	0.55	0.41195	D	0.986337	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.31617	T	0.26	.	3.3839	0.07264	0.4581:0.3763:0.0:0.1656	.	1626	Q9UPA5	BSN_HUMAN	L	1626	ENSP00000296452:P1626L	ENSP00000296452:P1626L	P	+	2	0	BSN	49666870	0.023000	0.18921	0.977000	0.42913	0.582000	0.36321	1.185000	0.32065	2.503000	0.84419	0.561000	0.74099	CCC		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	10	0	0	0	1	0	11	10				
KIAA0753	9851	broad.mit.edu	37	17	6528142	6528142	+	Missense_Mutation	SNP	C	C	T	rs368409165		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6528142C>T	ENST00000361413.3	-	4	1116	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	253						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GATACGGATTCGACGTTCTTC	0.428																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(757-759)cGa>cAa		KIAA0753		C	GLN/ARG	0,3900		0,0,1950	67.0	63.0	64.0		758	4.1	0.1	17		64	1,8259		0,1,4129	no	missense	KIAA0753	NM_014804.2	43	0,1,6079	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	253/968	6528142	1,12159	1950	4130	6080	SO:0001583	missense	9851					centrosome		g.chr17:6528142C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.758G>A	17.37:g.6528142C>T	ENSP00000355250:p.Arg253Gln					KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_Intron	p.R253Q	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	4	1116	-			253					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.758G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864200	0.71949	0.0	1.21E-4	ENSG00000198920	ENST00000361413	T	0.09630	2.96	5.08	4.09	0.47781	.	0.147539	0.45361	D	0.000369	T	0.20618	0.0496	M	0.69823	2.125	0.41644	D	0.989099	D	0.61080	0.989	P	0.51582	0.674	T	0.00717	-1.1596	10	0.44086	T	0.13	-10.8433	12.2117	0.54383	0.0:0.9105:0.0:0.0895	.	253	Q2KHM9	K0753_HUMAN	Q	253	ENSP00000355250:R253Q	ENSP00000355250:R253Q	R	-	2	0	KIAA0753	6468866	0.597000	0.26874	0.056000	0.19401	0.938000	0.57974	1.988000	0.40697	2.537000	0.85549	0.650000	0.86243	CGA		0.428	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		4	6	0	0	0	1	0	4	6				
DRD4	1815	broad.mit.edu	37	11	640482	640482	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:640482G>A	ENST00000176183.5	+	4	1151	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	428					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	GTGCCCCCGCGGCTGGTCAGC	0.672																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1138-1140)cGg>cAg		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						73.0	62.0	66.0					11																	640482		2200	4297	6497	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:640482G>A	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1139G>A	11.37:g.640482G>A	ENSP00000176183:p.Arg380Gln						p.R380Q	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1151	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	428					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.1139G>A	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	g	15.71	2.913449	0.52439	.	.	ENSG00000069696	ENST00000176183	T	0.36699	1.24	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.611626	0.15807	N	0.243664	T	0.16854	0.0405	.	.	.	0.25151	N	0.990429	P	0.35923	0.528	B	0.33960	0.173	T	0.09058	-1.0692	9	0.13108	T	0.6	.	5.0094	0.14304	0.2617:0.0:0.7383:0.0	.	428	P21917	DRD4_HUMAN	Q	380	ENSP00000176183:R380Q	ENSP00000176183:R380Q	R	+	2	0	DRD4	630482	0.123000	0.22298	0.968000	0.41197	0.863000	0.49368	2.795000	0.47861	1.704000	0.51252	0.450000	0.29827	CGG		0.672	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		19	27	0	0	0	1	0	19	27				
ST3GAL2	6483	broad.mit.edu	37	16	70422350	70422350	+	Silent	SNP	G	G	A	rs2229570	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70422350G>A	ENST00000393640.4	-	3	2740	c.633C>T	c.(631-633)aaC>aaT	p.N211N	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.N211N			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	211					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CGAAGCTGACGTTGGCGGGCA	0.597																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(631-633)aaC>aaT		ST3 beta-galactoside alpha-2,3-sialyltransferase 2		G		3,4393	6.2+/-15.9	0,3,2195	163.0	140.0	148.0		633	-4.8	0.9	16	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	ST3GAL2	NM_006927.3		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		211/351	70422350	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70422350G>A	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.633C>T	16.37:g.70422350G>A						ST3GAL2_ENST00000342907.2_Silent_p.N211N|RP11-529K1.4_ENST00000566960.1_RNA	p.N211N			Q16842	SIA4B_HUMAN			3	2740	-		Ovarian(137;0.0694)	211					O00654	Silent	SNP	ENST00000393640.4	37	c.633C>T	CCDS10890.1																																																																																				0.597	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		39	52	0	0	0	1	0	39	52				
ABCA13	154664	broad.mit.edu	37	7	48619871	48619871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48619871C>A	ENST00000435803.1	+	56	14430	c.14406C>A	c.(14404-14406)taC>taA	p.Y4802*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.Y532*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4802	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTGGCTACTGTCCCCAGC	0.567																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14404-14406)taC>taA		ATP-binding cassette, sub-family A (ABC1), member 13							29.0	32.0	31.0					7																	48619871		1962	4153	6115	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48619871C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14406C>A	7.37:g.48619871C>A	ENSP00000411096:p.Tyr4802*					ABCA13_ENST00000544596.1_Nonsense_Mutation_p.Y532*	p.Y4802*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			56	14430	+			4802			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.14406C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	55	23.545656	0.99955	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.0	4.11	0.48088	.	0.000000	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3387	0.32230	0.0:0.8943:0.0:0.1057	.	.	.	.	X	4802;575;532	.	ENSP00000391042:Y575X	Y	+	3	2	ABCA13	48590417	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	2.030000	0.41108	2.318000	0.78349	0.637000	0.83480	TAC		0.567	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	8	1	0	2.80697e-09	1	2.97546e-09	11	8				
NEK4	6787	broad.mit.edu	37	3	52785948	52785948	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52785948C>A	ENST00000233027.5	-	7	1570	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	NEK4_ENST00000535191.1_Splice_Site_p.Q367H|NEK4_ENST00000383721.4_Splice_Site_p.Q456H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	456			Q -> E (in dbSNP:rs56019351). {ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TATCACTCACCTGGTCCTTTG	0.428																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.e7+1		NIMA-related kinase 4							110.0	111.0	111.0					3																	52785948		2203	4300	6503	SO:0001630	splice_region_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52785948C>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1368+1G>T	3.37:g.52785948C>A						NEK4_ENST00000535191.1_Splice_Site_p.Q367_splice|NEK4_ENST00000383721.4_Splice_Site_p.Q456_splice	p.Q456_splice	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	7	1570	-			456		Q -> E (in dbSNP:rs56019351).			A5YM70|B2R633|B7Z200|Q6P576	Splice_Site	SNP	ENST00000233027.5	37	c.1368_splice	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100627	0.56183	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72835	2.5;2.5;-0.69;2.5	4.45	2.62	0.31277	.	1.030060	0.07732	N	0.945343	T	0.60894	0.2304	N	0.14661	0.345	0.23336	N	0.997881	P;D;P	0.54964	0.947;0.969;0.947	P;P;P	0.50970	0.453;0.655;0.453	T	0.49854	-0.8895	9	.	.	.	.	6.489	0.22105	0.1797:0.7259:0.0:0.0944	.	367;456;456	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	H	456;367;456;367	ENSP00000233027:Q456H;ENSP00000437703:Q367H;ENSP00000373227:Q456H;ENSP00000419666:Q367H	.	Q	-	3	2	NEK4	52760988	0.994000	0.37717	0.998000	0.56505	0.954000	0.61252	1.681000	0.37618	0.605000	0.29947	0.655000	0.94253	CAG		0.428	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	Missense_Mutation	39	93	1	0	7.04047e-22	1	7.82589e-22	39	93				
FAM57A	79850	broad.mit.edu	37	17	641198	641198	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:641198T>C	ENST00000308278.8	+	3	555	c.319T>C	c.(319-321)Tcc>Ccc	p.S107P	FAM57A_ENST00000301324.8_Missense_Mutation_p.S107P|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	107	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CCGTGCGCCCTCCCTCACTCT	0.512																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(319-321)Tcc>Ccc		family with sequence similarity 57, member A							201.0	173.0	182.0					17																	641198		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641198T>C	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.319T>C	17.37:g.641198T>C	ENSP00000312017:p.Ser107Pro					FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.S107P	p.S107P	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	555	+			107			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.319T>C	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	T	8.199	0.797772	0.16327	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	-1.76	0.08006	TRAM/LAG1/CLN8 homology domain (3);	88.204300	0.00698	U	0.000770	T	0.32585	0.0834	L	0.45137	1.4	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.004;0.005	T	0.07849	-1.0751	9	0.33141	T	0.24	-6.8883	2.5536	0.04755	0.2835:0.062:0.2179:0.4365	.	107;107	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	P	107;107;180	.	ENSP00000301324:S107P	S	+	1	0	FAM57A	587948	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.474000	0.22148	-0.268000	0.09312	0.519000	0.50382	TCC		0.512	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		56	95	0	0	0	1	0	56	95				
ACAT1	38	broad.mit.edu	37	11	108014721	108014721	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:108014721G>A	ENST00000265838.4	+	10	1043	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	318					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATTTGCTGACGCTGCTGTAGA	0.398																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(952-954)Gct>Act		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						108.0	111.0	110.0					11																	108014721		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108014721G>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.952G>A	11.37:g.108014721G>A	ENSP00000265838:p.Ala318Thr						p.A318T	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	10	1043	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	318					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.952G>A	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074731	0.94000	.	.	ENSG00000075239	ENST00000265838	D	0.93247	-3.19	5.47	4.54	0.55810	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	M	0.75884	2.315	0.80722	D	1	D	0.67145	0.996	P	0.60682	0.878	D	0.95925	0.8934	10	0.66056	D	0.02	-26.456	15.5022	0.75709	0.0:0.0:0.8606:0.1394	.	318	P24752	THIL_HUMAN	T	318	ENSP00000265838:A318T	ENSP00000265838:A318T	A	+	1	0	ACAT1	107519931	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	9.386000	0.97228	1.286000	0.44565	0.655000	0.94253	GCT		0.398	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		29	45	0	0	0	1	0	29	45				
FTMT	94033	broad.mit.edu	37	5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731																																						ENST00000321339.1																			1	Substitution - Missense(1)	p.R23C(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(67-69)Cgc>Tgc		ferritin mitochondrial							16.0	18.0	17.0					5																	121187725		2198	4292	6490	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187725C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.67C>T	5.37:g.121187725C>T	ENSP00000313691:p.Arg23Cys						p.R23C	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	76	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	23						Missense_Mutation	SNP	ENST00000321339.1	37	c.67C>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884920	0.17540	.	.	ENSG00000181867	ENST00000321339	T	0.63580	-0.05	2.95	0.0714	0.14382	.	.	.	.	.	T	0.41994	0.1183	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27606	-1.0069	9	0.46703	T	0.11	.	2.3777	0.04346	0.2393:0.4726:0.0:0.288	.	23	Q8N4E7	FTMT_HUMAN	C	23	ENSP00000313691:R23C	ENSP00000313691:R23C	R	+	1	0	FTMT	121215624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.015000	0.14150	-0.760000	0.03462	CGC		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		13	20	0	0	0	1	0	13	20				
DLC1	10395	broad.mit.edu	37	8	12950183	12950183	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:12950183G>A	ENST00000276297.4	-	13	4087	c.3678C>T	c.(3676-3678)gcC>gcT	p.A1226A	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.A715A|DLC1_ENST00000358919.2_Silent_p.A789A|DLC1_ENST00000512044.2_Silent_p.A823A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1226	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTAAGCACACGGCCAGGTTGG	0.562																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3676-3678)gcC>gcT		deleted in liver cancer 1							139.0	121.0	127.0					8																	12950183		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12950183G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3678C>T	8.37:g.12950183G>A						DLC1_ENST00000512044.2_Silent_p.A823A|DLC1_ENST00000520226.1_Silent_p.A715A|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.A789A	p.A1226A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			13	4087	-			1226			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3678C>T	CCDS5989.1																																																																																				0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	18	0	0	0	1	0	8	18				
NTNG2	84628	broad.mit.edu	37	9	135073364	135073364	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135073364C>T	ENST00000393229.3	+	3	1001	c.225C>T	c.(223-225)taC>taT	p.Y75Y	NTNG2_ENST00000360670.3_Silent_p.Y75Y|NTNG2_ENST00000372179.3_Silent_p.Y75Y|NTNG2_ENST00000393228.4_Silent_p.Y75Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	75	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.|NGL discriminant loop I.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGAATCCCTACCTATGCAGCA	0.662																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(223-225)taC>taT		netrin G2							32.0	32.0	32.0					9																	135073364		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073364C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.225C>T	9.37:g.135073364C>T						NTNG2_ENST00000360670.3_Silent_p.Y75Y|NTNG2_ENST00000393228.4_Silent_p.Y75Y|NTNG2_ENST00000372179.3_Silent_p.Y75Y	p.Y75Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1001	+			75			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.225C>T	CCDS6946.1																																																																																				0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		12	15	0	0	0	1	0	12	15				
SERPINE2	5270	broad.mit.edu	37	2	224866369	224866369	+	Silent	SNP	G	G	A	rs567117261		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224866369G>A	ENST00000258405.4	-	2	491	c.249C>T	c.(247-249)taC>taT	p.Y83Y	SERPINE2_ENST00000447280.2_Silent_p.Y95Y|SERPINE2_ENST00000409840.3_Silent_p.Y83Y|SERPINE2_ENST00000409304.1_Silent_p.Y83Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	83					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATTTACGCCGTATCTCATCA	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18199	0.0		0.0	False		,,,				2504	0.0					ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(247-249)taC>taT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							70.0	62.0	65.0					2																	224866369		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866369G>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.249C>T	2.37:g.224866369G>A						SERPINE2_ENST00000258405.4_Silent_p.Y83Y|SERPINE2_ENST00000409304.1_Silent_p.Y83Y|SERPINE2_ENST00000447280.2_Silent_p.Y95Y	p.Y83Y			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	909	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	83					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.249C>T	CCDS2460.1																																																																																				0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		15	24	0	0	0	1	0	15	24				
OR3A4P	390756	broad.mit.edu	37	17	3214437	3214437	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3214437G>A	ENST00000573491.1	-	0	359																											AAGGGCATTGGCATCCTCAAC	0.562																																						ENST00000573491.1																			0																				230.0	184.0	200.0					17																	3214437		2203	4300	6503			0							g.chr17:3214437G>A																													17.37:g.3214437G>A						OR3A4P_ENST00000323164.4_RNA								0	359	-									RNA	SNP	ENST00000573491.1	37																																																																																						0.562	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			18	66	0	0	0	1	0	18	66				
SNRNP200	23020	broad.mit.edu	37	2	96964107	96964107	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:96964107C>A	ENST00000323853.5	-	9	1111	c.1034G>T	c.(1033-1035)aGg>aTg	p.R345M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R345M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	345					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCCATAATCCTTTCCTTTTC	0.463																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1033-1035)aGg>aTg		small nuclear ribonucleoprotein 200kDa (U5)																																				SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96964107C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1034G>T	2.37:g.96964107C>A	ENSP00000317123:p.Arg345Met					SNRNP200_ENST00000349783.5_Missense_Mutation_p.R345M	p.R345M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			9	1111	-			345					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1034G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568122	0.45798	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.68479	-0.33;1.49	5.77	4.89	0.63831	.	0.088205	0.85682	N	0.000000	T	0.56645	0.1999	L	0.31065	0.9	0.47374	D	0.999408	B	0.18968	0.032	B	0.20184	0.028	T	0.53099	-0.8486	10	0.45353	T	0.12	-12.0805	15.1048	0.72312	0.1431:0.8569:0.0:0.0	.	345	O75643	U520_HUMAN	M	345;345;20	ENSP00000317123:R345M;ENSP00000326937:R345M	ENSP00000317123:R345M	R	-	2	0	SNRNP200	96327834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.362000	0.59467	1.427000	0.47276	0.555000	0.69702	AGG		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	50	1	0	1.58986e-06	1	1.65464e-06	11	50				
MUC17	140453	broad.mit.edu	37	7	100679721	100679721	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100679721C>T	ENST00000306151.4	+	3	5088	c.5024C>T	c.(5023-5025)gCt>gTt	p.A1675V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1675	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACACCTGCTGAAGGTACC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5023-5025)gCt>gTt		mucin 17, cell surface associated							208.0	219.0	215.0					7																	100679721		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679721C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5024C>T	7.37:g.100679721C>T	ENSP00000302716:p.Ala1675Val						p.A1675V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5088	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1675			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5024C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.644	0.303412	0.10678	.	.	ENSG00000169876	ENST00000306151	T	0.01629	4.72	0.932	0.932	0.19466	.	.	.	.	.	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	D	0.55385	0.971	B	0.39094	0.29	T	0.52351	-0.8587	9	0.21540	T	0.41	.	5.3368	0.15961	0.0:1.0:0.0:0.0	.	1675	Q685J3	MUC17_HUMAN	V	1675	ENSP00000302716:A1675V	ENSP00000302716:A1675V	A	+	2	0	MUC17	100466441	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.181000	0.16880	0.857000	0.35407	0.134000	0.15878	GCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		90	144	0	0	0	1	0	90	144				
KHSRP	8570	broad.mit.edu	37	19	6427257	6427257	+	5'Flank	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6427257A>G	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.L266P	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GAAGCACTGGAGCATCTGCAA	0.627																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(796-798)cTc>cCc		solute carrier family 25, member 41							23.0	27.0	25.0					19																	6427257		1974	4171	6145	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427257A>G	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427257A>G	Exception_encountered						p.L266P	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			6	865	-			266					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.797T>C	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.748963	0.49257	.	.	ENSG00000181240	ENST00000321510	T	0.80994	-1.44	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	.	.	.	.	D	0.93145	0.7817	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94961	0.8108	9	0.87932	D	0	-15.2783	12.4071	0.55445	1.0:0.0:0.0:0.0	.	266	Q8N5S1	S2541_HUMAN	P	266	ENSP00000322649:L266P	ENSP00000322649:L266P	L	-	2	0	SLC25A41	6378257	1.000000	0.71417	0.004000	0.12327	0.430000	0.31655	7.874000	0.87199	1.756000	0.51951	0.374000	0.22700	CTC		0.627	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			4	10	0	0	0	1	0	4	10				
CT47B1	643311	broad.mit.edu	37	X	120009362	120009362	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:120009362C>T	ENST00000371311.3	-	1	417	c.163G>A	c.(163-165)Gca>Aca	p.A55T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	55										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ACGGGCCCTGCGACTCCGACC	0.741																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(163-165)Gca>Aca		cancer/testis antigen family 47, member B1							3.0	6.0	5.0					X																	120009362		638	1441	2079	SO:0001583	missense	643311							g.chrX:120009362C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.163G>A	X.37:g.120009362C>T	ENSP00000360360:p.Ala55Thr						p.A55T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	417	-			55					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.163G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545968	0.27652	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.03	-4.07	0.03975	.	1.198590	0.06571	N	0.748581	T	0.36963	0.0986	N	0.19112	0.55	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.32719	-0.9896	9	0.44086	T	0.13	.	4.839	0.13478	0.0:0.2044:0.1814:0.6142	.	55	P0C2W7	CT47B_HUMAN	T	55	.	ENSP00000360360:A55T	A	-	1	0	CT47B1	119893390	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.599000	0.02085	-1.575000	0.01655	0.171000	0.16805	GCA		0.741	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		31	7	0	0	0	1	0	31	7				
ZBTB48	3104	broad.mit.edu	37	1	6640742	6640742	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:6640742T>C	ENST00000377674.4	+	2	231	c.73T>C	c.(73-75)Tac>Cac	p.Y25H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	25					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GAAGGGCCAGTACTGCGACGC	0.607																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(73-75)Tac>Cac		zinc finger and BTB domain containing 48							77.0	74.0	75.0					1																	6640742		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6640742T>C	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.73T>C	1.37:g.6640742T>C	ENSP00000366902:p.Tyr25His						p.Y25H	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	2	231	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	25					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.73T>C	CCDS84.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751148	0.89753	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	T;T;T	0.69040	-0.37;-0.37;-0.37	5.59	5.59	0.84812	BTB/POZ (1);BTB/POZ fold (2);	0.116985	0.64402	D	0.000013	T	0.75627	0.3875	L	0.49126	1.545	0.43377	D	0.995472	D	0.53885	0.963	P	0.61722	0.893	T	0.78170	-0.2308	10	0.87932	D	0	-34.0864	14.5816	0.68295	0.0:0.0:0.0:1.0	.	25	P10074	ZBT48_HUMAN	H	25	ENSP00000313416:Y25H;ENSP00000416054:Y25H;ENSP00000366902:Y25H	ENSP00000313416:Y25H	Y	+	1	0	ZBTB48	6563329	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.961000	0.49168	2.115000	0.64714	0.460000	0.39030	TAC		0.607	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		12	17	0	0	0	1	0	12	17				
ZC3H4	23211	broad.mit.edu	37	19	47587613	47587613	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47587613G>A	ENST00000253048.5	-	9	1244	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	403							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGGTGCAGCGCCCTTCCACG	0.592																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1207-1209)Cgc>Tgc		zinc finger CCCH-type containing 4							70.0	73.0	72.0					19																	47587613		2076	4214	6290	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47587613G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1207C>T	19.37:g.47587613G>A	ENSP00000253048:p.Arg403Cys					ZC3H4_ENST00000594019.1_Intron	p.R403C	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	9	1244	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	403					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1207C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966890	0.53507	.	.	ENSG00000130749	ENST00000253048	T	0.38240	1.15	5.67	5.67	0.87782	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59364	-0.7468	10	0.87932	D	0	.	14.4205	0.67180	0.0:0.0:0.8518:0.1482	.	403	Q9UPT8	ZC3H4_HUMAN	C	403	ENSP00000253048:R403C	ENSP00000253048:R403C	R	-	1	0	ZC3H4	52279453	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.315000	0.51951	2.837000	0.97791	0.655000	0.94253	CGC		0.592	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			9	17	0	0	0	1	0	9	17				
CT83	203413	broad.mit.edu	37	X	115593953	115593953	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:115593953C>T	ENST00000371894.4	-	1	211	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		22						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CTGAAAGCGGCGATATTTCCA	0.428																																						ENST00000371894.4																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(64-66)cGc>cAc		chromosome X open reading frame 61							181.0	149.0	160.0					X																	115593953		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115593953C>T																												ENST00000371894.4:c.65G>A	X.37:g.115593953C>T	ENSP00000360961:p.Arg22His						p.R22H	NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN			1	211	-			22						Missense_Mutation	SNP	ENST00000371894.4	37	c.65G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869118	0.32977	.	.	ENSG00000204019	ENST00000371894	.	.	.	3.22	-3.62	0.04543	.	1.861960	0.03297	N	0.188483	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	B	0.28636	0.218	B	0.15484	0.013	T	0.09079	-1.0691	9	0.56958	D	0.05	.	3.2039	0.06658	0.3978:0.2791:0.0:0.3231	.	22	Q5H943	KKLC1_HUMAN	H	22	.	ENSP00000360961:R22H	R	-	2	0	CXorf61	115507981	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.205000	0.17356	-1.215000	0.02610	0.534000	0.68092	CGC		0.428	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			28	2	0	0	0	1	0	28	2				
TBXA2R	6915	broad.mit.edu	37	19	3600087	3600087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3600087C>T	ENST00000375190.4	-	2	939	c.546G>A	c.(544-546)tgG>tgA	p.W182*	TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W182*|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	182					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TCAGGAAGCACCAGGACCCCG	0.721																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(544-546)tgG>tgA		thromboxane A2 receptor	Ridogrel(DB01207)						20.0	30.0	27.0					19																	3600087		2145	4239	6384	SO:0001587	stop_gained	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600087C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.546G>A	19.37:g.3600087C>T	ENSP00000364336:p.Trp182*					TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W182*|TBXA2R_ENST00000589966.1_Intron	p.W182*	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	939	-		Hepatocellular(1079;0.137)	182					O75228|Q6DK52|Q9UCY1|Q9UCY2	Nonsense_Mutation	SNP	ENST00000375190.4	37	c.546G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	41	8.569316	0.98868	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.4351	16.3625	0.83273	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000364336:W182X	W	-	3	0	TBXA2R	3551087	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.626000	0.83164	2.270000	0.75569	0.313000	0.20887	TGG		0.721	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			7	20	0	0	0	1	0	7	20				
SCRN3	79634	broad.mit.edu	37	2	175265862	175265862	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:175265862T>C	ENST00000272732.6	+	4	568	c.486T>C	c.(484-486)aaT>aaC	p.N162N	SCRN3_ENST00000409673.3_Silent_p.N155N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	162							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTGATAGGAATGAAGCCTGGA	0.388																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(484-486)aaT>aaC		secernin 3							114.0	114.0	114.0					2																	175265862		2203	4300	6503	SO:0001819	synonymous_variant	79634				proteolysis		dipeptidase activity	g.chr2:175265862T>C	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.486T>C	2.37:g.175265862T>C						SCRN3_ENST00000409673.3_Silent_p.N155N	p.N162N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	568	+			162					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	ENST00000272732.6	37	c.486T>C	CCDS2258.1																																																																																				0.388	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		17	32	0	0	0	1	0	17	32				
MAP4	4134	broad.mit.edu	37	3	47912426	47912426	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47912426T>C	ENST00000360240.6	-	13	3254	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	MAP4_ENST00000264724.11_Silent_p.K647K|MAP4_ENST00000395734.3_Silent_p.K912K|MAP4_ENST00000441748.2_Silent_p.K64K|MAP4_ENST00000426837.2_Silent_p.K2057K|MAP4_ENST00000383737.4_Silent_p.K640K|MAP4_ENST00000420772.2_Silent_p.K643K|MAP4_ENST00000462206.1_5'Flank	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	912					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAGCTGGGTTTGGCCGAGG	0.622																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6169-6171)aaA>aaG		microtubule-associated protein 4							65.0	72.0	70.0					3																	47912426		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912426T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2736A>G	3.37:g.47912426T>C						MAP4_ENST00000420772.2_Silent_p.K643K|MAP4_ENST00000395734.3_Silent_p.K912K|MAP4_ENST00000264724.11_Silent_p.K647K|MAP4_ENST00000383737.4_Silent_p.K640K|MAP4_ENST00000360240.6_Silent_p.K912K|MAP4_ENST00000441748.2_Silent_p.K64K	p.K2057K			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	6258	-			912					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.6171A>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	6.976	0.550034	0.13374	.	.	ENSG00000047849	ENST00000429422	.	.	.	5.13	2.17	0.27698	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-6.5731	3.6604	0.08237	0.0:0.4026:0.1853:0.4121	.	.	.	.	A	323	.	.	T	-	1	0	MAP4	47887430	0.986000	0.35501	0.998000	0.56505	0.652000	0.38707	0.382000	0.20635	0.759000	0.33084	-0.763000	0.03452	ACC		0.622	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		14	50	0	0	0	1	0	14	50				
SYNE1	23345	broad.mit.edu	37	6	152676013	152676013	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152676013G>A	ENST00000367255.5	-	67	11308	c.10707C>T	c.(10705-10707)gaC>gaT	p.D3569D	SYNE1_ENST00000265368.4_Silent_p.D3569D|SYNE1_ENST00000448038.1_Silent_p.D3576D|SYNE1_ENST00000341594.5_Silent_p.D3540D|SYNE1_ENST00000423061.1_Silent_p.D3576D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3569					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAAAGCCCGGTCCTCTGCCT	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(10705-10707)gaC>gaT		spectrin repeat containing, nuclear envelope 1							131.0	135.0	134.0					6																	152676013		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152676013G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10707C>T	6.37:g.152676013G>A		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.D3576D|SYNE1_ENST00000341594.5_Silent_p.D3540D|SYNE1_ENST00000423061.1_Silent_p.D3576D|SYNE1_ENST00000265368.4_Silent_p.D3569D	p.D3569D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11308	-		Ovarian(120;0.0955)	3569					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.10707C>T	CCDS5236.2																																																																																				0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	39	0	0	0	1	0	34	39				
PTPN7	5778	broad.mit.edu	37	1	202127379	202127379	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202127379A>G	ENST00000308986.5	-	3	303	c.173T>C	c.(172-174)gTa>gCa	p.V58A	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.V97A|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Missense_Mutation_p.V163A			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	58					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GATGGGTTCTACGGCCCCCAG	0.617																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(487-489)gTa>gCa		protein tyrosine phosphatase, non-receptor type 7							51.0	51.0	51.0					1																	202127379		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202127379A>G	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.173T>C	1.37:g.202127379A>G	ENSP00000311133:p.Val58Ala					PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.V97A|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000308986.5_Missense_Mutation_p.V58A|PTPN7_ENST00000543735.1_Intron	p.V163A	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			3	1261	-			58			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.488T>C		.	.	.	.	.	.	.	.	.	.	A	12.80	2.047097	0.36085	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451	T;T;T;T;T;T;T;T;T	0.59502	3.74;3.69;3.78;3.71;2.75;1.46;1.47;0.87;0.26	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000053	T	0.48804	0.1520	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.26195	0.112;0.103;0.048;0.144	B;B;B;B	0.32928	0.05;0.047;0.041;0.155	T	0.35251	-0.9796	10	0.08381	T	0.77	.	9.8709	0.41172	0.919:0.0:0.081:0.0	.	132;10;58;97	B4DZD9;Q8NFX3;P35236;P35236-2	.;.;PTN7_HUMAN;.	A	97;163;58;139;57;58;58;58;58	ENSP00000356248:V97A;ENSP00000309116:V163A;ENSP00000311133:V58A;ENSP00000418416:V139A;ENSP00000419993:V57A;ENSP00000418837:V58A;ENSP00000420434:V58A;ENSP00000417350:V58A;ENSP00000417410:V58A	ENSP00000311133:V58A	V	-	2	0	PTPN7	200394002	0.997000	0.39634	0.909000	0.35828	0.492000	0.33523	3.701000	0.54793	1.836000	0.53414	0.260000	0.18958	GTA		0.617	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		3	20	0	0	0	1	0	3	20				
IGKV1D-13	28902	broad.mit.edu	37	2	90193290	90193290	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:90193290G>A	ENST00000390275.2	+	0	397									immunoglobulin kappa variable 1D-13																		GATCTATGATGCCTCCAGTTT	0.527																																						ENST00000390275.2																			0																				101.0	80.0	87.0					2																	90193290		1860	4100	5960			0							g.chr2:90193290G>A	X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271		2.37:g.90193290G>A														0	397	+									RNA	SNP	ENST00000390275.2	37																																																																																						0.527	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833		8	129	0	0	0	1	0	8	129				
PITPNM1	9600	broad.mit.edu	37	11	67269354	67269354	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67269354C>T	ENST00000534749.1	-	4	807	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E207K|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E207K			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	207					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ATGAACTGCTCGATCTTGGCT	0.597																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(619-621)Gag>Aag		phosphatidylinositol transfer protein, membrane-associated 1							91.0	70.0	77.0					11																	67269354		2199	4295	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269354C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.619G>A	11.37:g.67269354C>T	ENSP00000437286:p.Glu207Lys					PITPNM1_ENST00000436757.2_Missense_Mutation_p.E207K|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E207K	p.E207K	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			5	844	-			207					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.619G>A	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330730	0.81690	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.57595	0.39;0.39;0.39	4.23	4.23	0.50019	START-like domain (1);	0.000000	0.49916	D	0.000129	T	0.73682	0.3618	M	0.93978	3.48	0.50039	D	0.999847	D;D	0.57257	0.979;0.969	P;P	0.54100	0.699;0.742	T	0.83009	-0.0173	10	0.87932	D	0	-13.3456	15.7356	0.77839	0.0:1.0:0.0:0.0	.	207;207	O00562-2;O00562	.;PITM1_HUMAN	K	207	ENSP00000437286:E207K;ENSP00000398787:E207K;ENSP00000348772:E207K	ENSP00000348772:E207K	E	-	1	0	PITPNM1	67025930	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.571000	0.82399	2.359000	0.80004	0.655000	0.94253	GAG		0.597	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	17	0	0	0	1	0	11	17				
ZMYND8	23613	broad.mit.edu	37	20	45905186	45905186	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45905186C>T	ENST00000311275.7	-	11	1545	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	ZMYND8_ENST00000536340.1_Missense_Mutation_p.R458H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R426H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R426H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R368H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R451H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	431					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CATGGGGGAGCGCGGCATATC	0.597																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1291-1293)cGc>cAc		zinc finger, MYND-type containing 8							71.0	61.0	64.0					20																	45905186		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905186C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1292G>A	20.37:g.45905186C>T	ENSP00000312237:p.Arg431His					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R426H|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R426H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R458H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R451H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R431H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R426H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R451H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R368H	p.R431H			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1545	-			431					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1292G>A		.	.	.	.	.	.	.	.	.	.	C	23.6	4.436503	0.83885	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-2.15;-2.02;-2.11;-2.06;-2.04;-2.04;-2.15;-2.04;-2.03;-3.05;-2.07;-2.16;-1.97	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	L	0.59436	1.845	0.53688	D	0.999978	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D	0.83275	0.964;0.975;0.996;0.993;0.991;0.988;0.975;0.993;0.939;0.954;0.993;0.996;0.996;0.996;0.996;0.855;0.971;0.99	D	0.95441	0.8525	10	0.66056	D	0.02	-16.9423	19.451	0.94867	0.0:1.0:0.0:0.0	.	426;458;426;426;406;425;451;431;426;451;451;431;368;426;426;451;426;431	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	H	426;431;426;431;451;451;431;458;431;368;451;426;426	ENSP00000354166:R426H;ENSP00000312237:R431H;ENSP00000392964:R426H;ENSP00000262975:R431H;ENSP00000420095:R451H;ENSP00000335537:R451H;ENSP00000379577:R431H;ENSP00000439800:R458H;ENSP00000348246:R431H;ENSP00000396725:R368H;ENSP00000418210:R451H;ENSP00000361093:R426H;ENSP00000443086:R426H	ENSP00000262975:R431H	R	-	2	0	ZMYND8	45338593	1.000000	0.71417	0.719000	0.30619	0.460000	0.32559	7.711000	0.84669	2.593000	0.87608	0.655000	0.94253	CGC		0.597	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		25	20	0	0	0	1	0	25	20				
NPEPL1	79716	broad.mit.edu	37	20	57269496	57269496	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57269496G>A	ENST00000356091.6	+	3	643	c.355G>A	c.(355-357)Gag>Aag	p.E119K	NPEPL1_ENST00000525967.1_Missense_Mutation_p.E91K|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.E71K	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.E119K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGAGCAGCCGGAGGTCTTTGC	0.667																																						ENST00000356091.6																			1	Substitution - Missense(1)	p.E119K(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(355-357)Gag>Aag		aminopeptidase-like 1							68.0	76.0	73.0					20																	57269496		2037	4187	6224	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57269496G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.355G>A	20.37:g.57269496G>A	ENSP00000348395:p.Glu119Lys					STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.E71K|NPEPL1_ENST00000525967.1_Missense_Mutation_p.E91K	p.E119K	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		3	643	+	all_lung(29;0.0175)		119					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.355G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825132	0.50739	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.30981	1.51;1.53;1.52	4.58	4.58	0.56647	.	0.256963	0.43919	D	0.000510	T	0.36441	0.0967	L	0.56769	1.78	0.58432	D	0.999999	B;B;B;B	0.33103	0.018;0.018;0.078;0.397	B;B;B;B	0.38458	0.017;0.038;0.027;0.274	T	0.23547	-1.0185	10	0.41790	T	0.15	-15.9043	16.4186	0.83751	0.0:0.0:1.0:0.0	.	119;71;91;119	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	K	91;71;119	ENSP00000434810:E91K;ENSP00000437112:E71K;ENSP00000348395:E119K	ENSP00000348395:E119K	E	+	1	0	NPEPL1	56702903	1.000000	0.71417	0.040000	0.18447	0.077000	0.17291	9.406000	0.97321	2.122000	0.65172	0.549000	0.68633	GAG		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		25	52	0	0	0	1	0	25	52				
RPS6KA2	6196	broad.mit.edu	37	6	166827379	166827379	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166827379C>T	ENST00000265678.4	-	20	2202	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R685H|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R571H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R571H|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R668H	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	660	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGCCGTCAGGCGCTGATGAGG	0.587																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2053-2055)cGc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 2							94.0	77.0	82.0					6																	166827379		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166827379C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1979G>A	6.37:g.166827379C>T	ENSP00000265678:p.Arg660His					RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R571H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R571H|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R668H|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R660H	p.R685H			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	22	2394	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	660					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.2054G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403445	0.83230	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4	3.74	3.74	0.42951	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133641	0.51477	D	0.000084	D	0.93409	0.7898	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	D	0.95878	0.8896	10	0.87932	D	0	.	15.1202	0.72438	0.0:1.0:0.0:0.0	.	685;668;660	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	H	660;685;668;571;571	ENSP00000265678:R660H;ENSP00000422435:R685H;ENSP00000427015:R668H;ENSP00000422484:R571H;ENSP00000386050:R571H	ENSP00000265678:R660H	R	-	2	0	RPS6KA2	166747369	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.062000	0.76706	2.105000	0.64084	0.478000	0.44815	CGC		0.587	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		12	15	0	0	0	1	0	12	15				
MLH3	27030	broad.mit.edu	37	14	75515153	75515153	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75515153C>A	ENST00000556740.1	-	1	1241	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.E402D|MLH3_ENST00000238662.7_Missense_Mutation_p.E402D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.E402D			Q9UHC1	MLH3_HUMAN	mutL homolog 3	402					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AATTAAACATCTCATAGGAAT	0.353								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1204-1206)gaG>gaT	Mismatch excision repair (MMR)	mutL homolog 3							47.0	47.0	47.0					14																	75515153		2202	4299	6501	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515153C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1206G>T	14.37:g.75515153C>A	ENSP00000452316:p.Glu402Asp					MLH3_ENST00000556740.1_Missense_Mutation_p.E402D|MLH3_ENST00000556257.1_Missense_Mutation_p.E402D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.E402D	p.E402D	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1421	-			402					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1206G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751246	0.31046	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.85411	-1.82;-1.89;-1.98;-1.82	5.74	2.27	0.28462	.	0.060759	0.64402	D	0.000004	D	0.89361	0.6693	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.85130	0.997;0.83	D	0.86176	0.1603	10	0.39692	T	0.17	-19.0298	7.9682	0.30111	0.0:0.2487:0.0:0.7513	.	402;402	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	D	402	ENSP00000348020:E402D;ENSP00000238662:E402D;ENSP00000451540:E402D;ENSP00000452316:E402D	ENSP00000238662:E402D	E	-	3	2	MLH3	74584906	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	1.882000	0.39648	0.483000	0.27608	0.650000	0.86243	GAG		0.353	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		15	36	1	0	6.72482e-11	1	7.20828e-11	15	36				
DLD	1738	broad.mit.edu	37	7	107546746	107546746	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107546746C>T	ENST00000205402.5	+	8	898	c.617C>T	c.(616-618)gCt>gTt	p.A206V	DLD_ENST00000537148.1_Missense_Mutation_p.A107V|DLD_ENST00000440410.1_Missense_Mutation_p.A183V|DLD_ENST00000437604.2_Missense_Mutation_p.A158V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	206					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TCTACAGGTGCTTTATCTTTA	0.333																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(616-618)gCt>gTt		dihydrolipoamide dehydrogenase	NADH(DB00157)						126.0	132.0	130.0					7																	107546746		2203	4300	6503	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546746C>T	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.617C>T	7.37:g.107546746C>T	ENSP00000205402:p.Ala206Val					DLD_ENST00000537148.1_Missense_Mutation_p.A107V|DLD_ENST00000437604.2_Missense_Mutation_p.A158V|DLD_ENST00000440410.1_Missense_Mutation_p.A183V	p.A206V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			8	898	+			206					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.617C>T	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408367	0.96051	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.75	5.75	0.90469	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.989;0.997;0.983	T	0.72773	-0.4192	10	0.87932	D	0	-14.4777	20.312	0.98644	0.0:1.0:0.0:0.0	.	183;158;206	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	V	206;206;107;183;158;156	ENSP00000205402:A206V;ENSP00000390667:A206V;ENSP00000442399:A107V;ENSP00000417016:A183V;ENSP00000387542:A158V	ENSP00000205402:A206V	A	+	2	0	DLD	107333982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.866000	0.98385	0.650000	0.86243	GCT		0.333	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		8	24	0	0	0	1	0	8	24				
RPL23AP53	644128	broad.mit.edu	37	8	163709	163709	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:163709G>A	ENST00000606975.1	-	0	212									ribosomal protein L23a pseudogene 53																		TTTCGGTGCCGTCTTGTGAAA	0.408																																						ENST00000606975.1																			0																																																			0							g.chr8:163709G>A			8p23.3	2014-06-17			ENSG00000223508	ENSG00000223508			35921	pseudogene	pseudogene						19123937	Standard	NR_003572		Approved		uc010lrb.4				8.37:g.163709G>A														0	212	-									RNA	SNP	ENST00000606975.1	37																																																																																						0.408	RPL23AP53-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470409.1	NR_003572		4	19	0	0	0	1	0	4	19				
GTF3C1	2975	broad.mit.edu	37	16	27503740	27503740	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27503740G>A	ENST00000356183.4	-	19	3085	c.3070C>T	c.(3070-3072)Cgc>Tgc	p.R1024C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1024C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1024					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACATAGAGGCGCCTCTCGAAG	0.532																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(3070-3072)Cgc>Tgc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							64.0	71.0	68.0					16																	27503740		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503740G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3070C>T	16.37:g.27503740G>A	ENSP00000348510:p.Arg1024Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1024C	p.R1024C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			19	3085	-			1024					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3070C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103175	0.94245	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	5.81	5.81	0.92471	.	0.058101	0.64402	D	0.000001	T	0.54902	0.1887	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.55648	-0.8108	10	0.87932	D	0	-22.5809	19.693	0.96009	0.0:0.0:1.0:0.0	.	1024;1024	Q12789;Q12789-3	TF3C1_HUMAN;.	C	1024;1022	ENSP00000348510:R1024C	ENSP00000348510:R1024C	R	-	1	0	GTF3C1	27411241	1.000000	0.71417	0.923000	0.36655	0.771000	0.43674	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGC		0.532	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		16	34	0	0	0	1	0	16	34				
ZPR1	8882	broad.mit.edu	37	11	116657731	116657731	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116657731C>T	ENST00000227322.3	-	3	437	c.378G>A	c.(376-378)agG>agA	p.R126R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		126					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTCAGGAATCCTTGTGGCAG	0.438																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(376-378)agG>agA		zinc finger protein 259							158.0	159.0	159.0					11																	116657731		2201	4296	6497	SO:0001819	synonymous_variant	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116657731C>T																												ENST00000227322.3:c.378G>A	11.37:g.116657731C>T							p.R126R	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	3	437	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	126					Q2TAA0	Silent	SNP	ENST00000227322.3	37	c.378G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527557|1.527557	0.27299|0.27299	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000444935	.|.	.|.	.|.	5.6|5.6	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.60196|0.60196	0.2250|0.2250	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58194|0.58194	-0.7679|-0.7679	4|4	.|.	.|.	.|.	-8.3098|-8.3098	9.5352|9.5352	0.39218|0.39218	0.0:0.7572:0.1302:0.1126|0.0:0.7572:0.1302:0.1126	.|.	.|.	.|.	.|.	N|E	69|126	.|.	.|.	D|G	-|-	1|2	0|0	ZNF259|ZNF259	116162941|116162941	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.424000|0.424000	0.21330|0.21330	1.339000|1.339000	0.45563|0.45563	0.555000|0.555000	0.69702|0.69702	GAT|GGA		0.438	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			62	77	0	0	0	1	0	62	77				
DLG1	1739	broad.mit.edu	37	3	196921376	196921376	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:196921376C>T	ENST00000419354.1	-	5	689	c.403G>A	c.(403-405)Gtt>Att	p.V135I	DLG1_ENST00000422288.1_Missense_Mutation_p.V135I|DLG1_ENST00000346964.2_Missense_Mutation_p.V135I|DLG1_ENST00000314062.3_Missense_Mutation_p.V135I|DLG1_ENST00000450955.1_Missense_Mutation_p.V135I|DLG1_ENST00000392382.2_Missense_Mutation_p.V135I|DLG1_ENST00000357674.4_Missense_Mutation_p.V135I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000448528.2_Missense_Mutation_p.V135I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	135					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GAGACATGAACCAATTCTGGA	0.343																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(403-405)Gtt>Att		discs, large homolog 1 (Drosophila)							148.0	142.0	144.0					3																	196921376		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921376C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.403G>A	3.37:g.196921376C>T	ENSP00000407531:p.Val135Ile					DLG1_ENST00000357674.4_Missense_Mutation_p.V135I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.V135I|DLG1_ENST00000419354.1_Missense_Mutation_p.V135I|DLG1_ENST00000450955.1_Missense_Mutation_p.V135I|DLG1_ENST00000448528.2_Missense_Mutation_p.V135I|DLG1_ENST00000422288.1_Missense_Mutation_p.V135I|DLG1_ENST00000392382.2_Missense_Mutation_p.V135I	p.V135I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	592	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	135					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.403G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600668	0.66332	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.67	5.67	0.87782	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.69823	2.125	0.58432	D	0.999999	P;P;P;P	0.49090	0.749;0.864;0.475;0.919	B;P;B;P	0.51516	0.441;0.523;0.372;0.672	T	0.56992	-0.7887	10	0.32370	T	0.25	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	135;135;135;135	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	I	135;135;135;135;135;135;135;135;135;135;39;135;135;135	ENSP00000345731:V135I;ENSP00000350303:V135I;ENSP00000321087:V135I;ENSP00000407531:V135I;ENSP00000413238:V135I;ENSP00000391732:V135I;ENSP00000376187:V135I;ENSP00000411278:V135I;ENSP00000412579:V39I;ENSP00000396474:V135I;ENSP00000376185:V135I;ENSP00000414189:V135I	ENSP00000321087:V135I	V	-	1	0	DLG1	198405773	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.469000	0.80959	2.680000	0.91292	0.655000	0.94253	GTT		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		17	25	0	0	0	1	0	17	25				
L3MBTL3	84456	broad.mit.edu	37	6	130387534	130387534	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130387534T>C	ENST00000529410.1	+	13	1380	c.901T>C	c.(901-903)Tat>Cat	p.Y301H	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Y301H			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	301					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTTTGATGGGTATTCTGATTG	0.388																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(901-903)Tat>Cat		l(3)mbt-like 3 (Drosophila)							85.0	84.0	84.0					6																	130387534		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130387534T>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.901T>C	6.37:g.130387534T>C	ENSP00000431962:p.Tyr301His					L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Y301H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Y276H|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Y276H	p.Y301H			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	13	1380	+			301					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.901T>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722324	0.89298	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.62	5.62	0.85841	.	0.056978	0.64402	D	0.000001	T	0.71204	0.3312	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.978;0.998	T	0.77838	-0.2439	10	0.51188	T	0.08	.	16.1075	0.81236	0.0:0.0:0.0:1.0	.	276;301	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	H	301;276;301;276;276;301	ENSP00000431962:Y301H;ENSP00000437185:Y276H;ENSP00000354526:Y301H;ENSP00000357121:Y276H;ENSP00000436706:Y276H;ENSP00000357118:Y301H	ENSP00000354526:Y301H	Y	+	1	0	L3MBTL3	130429227	1.000000	0.71417	0.887000	0.34795	0.948000	0.59901	6.259000	0.72494	2.257000	0.74773	0.454000	0.30748	TAT		0.388	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		30	45	0	0	0	1	0	30	45				
ADSS	159	broad.mit.edu	37	1	244572920	244572920	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:244572920T>C	ENST00000366535.3	-	13	1655	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TCTCTGGATTTACCAACACCA	0.358																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1339-1341)Aaa>Gaa		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						87.0	85.0	86.0					1																	244572920		2203	4300	6503	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244572920T>C	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1339A>G	1.37:g.244572920T>C	ENSP00000355493:p.Lys447Glu						p.K447E	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		13	1655	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	447						Missense_Mutation	SNP	ENST00000366535.3	37	c.1339A>G	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.671983	0.47781	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.41065	1.01	5.63	4.49	0.54785	.	0.083519	0.85682	D	0.000000	T	0.33731	0.0873	L	0.31420	0.93	0.80722	D	1	B	0.17465	0.022	B	0.23852	0.049	T	0.11941	-1.0567	10	0.87932	D	0	-24.2612	12.2215	0.54437	0.0:0.0:0.1424:0.8575	.	447	P30520	PURA2_HUMAN	E	447;426	ENSP00000355493:K447E	ENSP00000355493:K447E	K	-	1	0	ADSS	242639543	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.779000	0.68948	0.931000	0.37242	0.529000	0.55759	AAA		0.358	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		30	53	0	0	0	1	0	30	53				
DDX58	23586	broad.mit.edu	37	9	32466305	32466305	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32466305C>A	ENST00000379883.2	-	16	2477	c.2320G>T	c.(2320-2322)Gca>Tca	p.A774S	DDX58_ENST00000379868.1_Missense_Mutation_p.A571S|DDX58_ENST00000542096.1_Missense_Mutation_p.A703S|DDX58_ENST00000379882.1_Missense_Mutation_p.A729S	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	774	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTAAATACTGCTTCGTCCCAT	0.353																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2185-2187)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							212.0	200.0	204.0					9																	32466305		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32466305C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2320G>T	9.37:g.32466305C>A	ENSP00000369213:p.Ala774Ser					DDX58_ENST00000379868.1_Missense_Mutation_p.A571S|DDX58_ENST00000542096.1_Missense_Mutation_p.A703S|DDX58_ENST00000379883.2_Missense_Mutation_p.A774S	p.A729S			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	15	2342	-			774			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2185G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263667	0.05754	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.06142	3.47;3.46;3.35;3.34	5.18	2.31	0.28768	Helicase, C-terminal (1);	0.844519	0.10503	N	0.667069	T	0.07908	0.0198	L	0.57536	1.79	0.40049	D	0.975756	B;B;B	0.12630	0.003;0.006;0.001	B;B;B	0.17979	0.02;0.015;0.003	T	0.17198	-1.0377	10	0.12103	T	0.63	-0.7402	10.197	0.43060	0.0:0.7767:0.0:0.2233	.	729;703;774	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	S	729;774;571;703	ENSP00000369212:A729S;ENSP00000369213:A774S;ENSP00000369197:A571S;ENSP00000442160:A703S	ENSP00000369197:A571S	A	-	1	0	DDX58	32456305	0.432000	0.25554	0.270000	0.24601	0.091000	0.18340	0.728000	0.26013	0.278000	0.22164	0.655000	0.94253	GCA		0.353	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		46	73	1	0	4.16331e-43	1	4.68058e-43	46	73				
WDR36	134430	broad.mit.edu	37	5	110446962	110446962	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110446962C>T	ENST00000513710.2	+	15	1873	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	WDR36_ENST00000506538.2_Silent_p.G623G|WDR36_ENST00000505303.1_Silent_p.G567G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	623					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACACCAAGGCCAAATAAATG	0.368																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1867-1869)ggC>ggT		WD repeat domain 36							125.0	134.0	131.0					5																	110446962		2202	4300	6502	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110446962C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1869C>T	5.37:g.110446962C>T						WDR36_ENST00000505303.1_Silent_p.G567G|WDR36_ENST00000513710.2_Silent_p.G623G	p.G623G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	15	2442	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	623					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.1869C>T	CCDS4102.1																																																																																				0.368	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		40	65	0	0	0	1	0	40	65				
RBMS1	5937	broad.mit.edu	37	2	161137851	161137851	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:161137851G>A	ENST00000348849.3	-	10	1355	c.925C>T	c.(925-927)Cct>Tct	p.P309S	RBMS1_ENST00000409972.1_Missense_Mutation_p.P273S|RBMS1_ENST00000392753.3_Missense_Mutation_p.P322S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P273S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P273S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	309					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TATGGTTGAGGTTGCATCCAC	0.313																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(925-927)Cct>Tct		RNA binding motif, single stranded interacting protein 1							79.0	85.0	83.0					2																	161137851		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161137851G>A	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.925C>T	2.37:g.161137851G>A	ENSP00000294904:p.Pro309Ser					RBMS1_ENST00000409972.1_Missense_Mutation_p.P273S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Missense_Mutation_p.P273S|RBMS1_ENST00000392753.3_Missense_Mutation_p.P322S|RBMS1_ENST00000409075.1_Missense_Mutation_p.P273S	p.P309S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			10	1355	-			309					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.925C>T	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847641	0.32606	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.23147	1.92;2.09;2.09;1.93;2.09	5.74	5.74	0.90152	.	0.048436	0.85682	D	0.000000	T	0.23370	0.0565	N	0.14661	0.345	0.80722	D	1	B;B;P;B;B;B	0.36535	0.008;0.004;0.557;0.004;0.008;0.024	B;B;B;B;B;B	0.41764	0.016;0.004;0.366;0.01;0.016;0.016	T	0.03566	-1.1024	10	0.35671	T	0.21	.	19.9214	0.97087	0.0:0.0:1.0:0.0	.	188;309;306;191;273;322	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	S	309;273;273;322;273	ENSP00000294904:P309S;ENSP00000386347:P273S;ENSP00000386571:P273S;ENSP00000376508:P322S;ENSP00000387280:P273S	ENSP00000294904:P309S	P	-	1	0	RBMS1	160846097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.582000	0.98214	2.716000	0.92895	0.563000	0.77884	CCT		0.313	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		29	45	0	0	0	1	0	29	45				
FSTL4	23105	broad.mit.edu	37	5	132535161	132535161	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:132535161G>A	ENST00000265342.7	-	16	2404	c.2155C>T	c.(2155-2157)Cgg>Tgg	p.R719W	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	719						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTCGCCCCGCACTGTGATC	0.557																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2155-2157)Cgg>Tgg		follistatin-like 4							70.0	69.0	70.0					5																	132535161		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535161G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2155C>T	5.37:g.132535161G>A	ENSP00000265342:p.Arg719Trp					CTB-49A3.2_ENST00000509051.1_RNA	p.R719W	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2404	-		all_cancers(142;0.244)	719					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2155C>T	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282844	0.40394	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.32023	1.47	4.76	1.78	0.24846	WD40/YVTN repeat-like-containing domain (1);	0.229124	0.36167	N	0.002744	T	0.48909	0.1526	M	0.73962	2.25	0.26002	N	0.982102	D;D	0.76494	0.997;0.999	P;P	0.59948	0.739;0.866	T	0.47959	-0.9076	10	0.87932	D	0	-23.1376	12.8201	0.57688	0.0:0.0:0.573:0.427	.	719;368	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	W	719;550	ENSP00000265342:R719W	ENSP00000265342:R719W	R	-	1	2	FSTL4	132563060	0.036000	0.19791	0.502000	0.27614	0.022000	0.10575	2.170000	0.42443	0.417000	0.25871	-0.291000	0.09656	CGG		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		22	25	0	0	0	1	0	22	25				
GBF1	8729	broad.mit.edu	37	10	104140354	104140354	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104140354C>T	ENST00000369983.3	+	38	5341	c.5081C>T	c.(5080-5082)cCc>cTc	p.P1694L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1694					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAGGCGGCCCCTCGGCCCTC	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5080-5082)cCc>cTc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							244.0	267.0	259.0					10																	104140354		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140354C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5081C>T	10.37:g.104140354C>T	ENSP00000359000:p.Pro1694Leu						p.P1694L	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5341	+		Colorectal(252;0.0236)	1694					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5081C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	7.112	0.576128	0.13623	.	.	ENSG00000107862	ENST00000369983	T	0.10099	2.91	5.91	5.91	0.95273	.	0.113073	0.40728	N	0.001028	T	0.08670	0.0215	N	0.22421	0.69	0.52501	D	0.999958	B;B;B	0.13594	0.002;0.003;0.008	B;B;B	0.16722	0.004;0.006;0.016	T	0.28490	-1.0042	10	0.28530	T	0.3	-18.2824	13.2195	0.59879	0.2617:0.7383:0.0:0.0	.	1690;1690;1694	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	L	1694	ENSP00000359000:P1694L	ENSP00000359000:P1694L	P	+	2	0	GBF1	104130344	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.360000	0.59455	2.793000	0.96121	0.655000	0.94253	CCC		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			85	136	0	0	0	1	0	85	136				
KIF27	55582	broad.mit.edu	37	9	86518655	86518655	+	Missense_Mutation	SNP	G	G	A	rs139609439		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:86518655G>A	ENST00000297814.2	-	4	921	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	KIF27_ENST00000334204.2_Missense_Mutation_p.R260W|KIF27_ENST00000413982.1_Missense_Mutation_p.R260W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	260	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCTTTGAACCGTTCACCAGTA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19428	0.0		0.001	False		,,,				2504	0.0					ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(778-780)Cgg>Tgg		kinesin family member 27							70.0	71.0	71.0					9																	86518655		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518655G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.778C>T	9.37:g.86518655G>A	ENSP00000297814:p.Arg260Trp					KIF27_ENST00000413982.1_Missense_Mutation_p.R260W|KIF27_ENST00000334204.2_Missense_Mutation_p.R260W	p.R260W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	921	-			260			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.778C>T	CCDS6665.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.78	3.695862	0.68386	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75938	-0.98;-0.98;-0.98	5.66	5.66	0.87406	Kinesin, motor domain (4);	0.000000	0.51477	D	0.000094	D	0.92344	0.7571	H	0.99634	4.67	0.45330	D	0.998326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94810	0.7978	10	0.87932	D	0	.	13.2616	0.60108	0.0:0.0:0.7227:0.2773	.	260;260;260	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	260	ENSP00000297814:R260W;ENSP00000401688:R260W;ENSP00000333928:R260W	ENSP00000297814:R260W	R	-	1	2	KIF27	85708475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.000000	0.40816	2.657000	0.90304	0.655000	0.94253	CGG		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		22	48	0	0	0	1	0	22	48				
RAB35	11021	broad.mit.edu	37	12	120534940	120534940	+	3'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120534940G>A	ENST00000229340.5	-	0	903				RAB35_ENST00000534951.1_3'UTR|RAB35_ENST00000432953.2_Missense_Mutation_p.S37F|RAB35_ENST00000543364.1_5'Flank	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family						antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		AACATGGAGAGAATTCTTTAA	0.602																																						ENST00000432953.2																			0				endometrium(1)|ovary(1)	2						c.(109-111)tCt>tTt		RAB35, member RAS oncogene family																																				SO:0001624	3_prime_UTR_variant	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120534940G>A	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.*109C>T	12.37:g.120534940G>A						RAB35_ENST00000534951.1_3'UTR|RAB35_ENST00000229340.5_3'UTR	p.S37F			Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	2	298	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		92					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.110C>T	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874253	0.51695	.	.	ENSG00000111737	ENST00000432953	T	0.33216	1.42	4.74	3.58	0.41010	.	.	.	.	.	T	0.15132	0.0365	.	.	.	0.23972	N	0.996306	B	0.31931	0.347	B	0.26416	0.069	T	0.07849	-1.0751	7	.	.	.	.	3.4639	0.07543	0.3909:0.0:0.6091:0.0	.	37	G5E9K9	.	F	37	ENSP00000399317:S37F	.	S	-	2	0	RAB35	119019323	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.568000	0.53820	2.340000	0.79590	0.655000	0.94253	TCT		0.602	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			5	9	0	0	0	1	0	5	9				
DPP8	54878	broad.mit.edu	37	15	65793039	65793039	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65793039C>T	ENST00000341861.5	-	4	2079	c.499G>A	c.(499-501)Gct>Act	p.A167T	Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321147.6_Missense_Mutation_p.A167T|DPP8_ENST00000358939.4_Missense_Mutation_p.A151T|DPP8_ENST00000300141.6_Missense_Mutation_p.A151T|DPP8_ENST00000321118.7_Missense_Mutation_p.A167T|DPP8_ENST00000559233.1_Missense_Mutation_p.A167T|DPP8_ENST00000339244.5_Missense_Mutation_p.A167T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	167					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTAAGAAGCAATTCCGACT	0.408																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(499-501)Gct>Act		dipeptidyl-peptidase 8							215.0	202.0	207.0					15																	65793039		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65793039C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.499G>A	15.37:g.65793039C>T	ENSP00000339208:p.Ala167Thr					DPP8_ENST00000559233.1_Missense_Mutation_p.A167T|DPP8_ENST00000339244.5_Missense_Mutation_p.A167T|DPP8_ENST00000358939.4_Missense_Mutation_p.A151T|DPP8_ENST00000321147.6_Missense_Mutation_p.A167T|DPP8_ENST00000321118.7_Missense_Mutation_p.A167T|DPP8_ENST00000300141.6_Missense_Mutation_p.A151T	p.A167T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			4	2079	-			167					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.499G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	9.132	1.011675	0.19277	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.91	5.91	0.95273	.	0.073726	0.56097	D	0.000023	T	0.08670	0.0215	N	0.01352	-0.895	0.23685	N	0.99711	B;B;B;B	0.20671	0.0;0.047;0.0;0.0	B;B;B;B	0.15484	0.001;0.013;0.001;0.0	T	0.15321	-1.0441	10	0.02654	T	1	-26.5164	15.0544	0.71901	0.142:0.858:0.0:0.0	.	151;151;167;167	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	T	167;151;151;167;167;167;167	ENSP00000339208:A167T;ENSP00000351817:A151T;ENSP00000300141:A151T;ENSP00000318111:A167T;ENSP00000316373:A167T;ENSP00000341230:A167T;ENSP00000379013:A167T	ENSP00000300141:A151T	A	-	1	0	DPP8	63580092	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.319000	0.51983	2.791000	0.96007	0.650000	0.86243	GCT		0.408	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		43	65	0	0	0	1	0	43	65				
DSEL	92126	broad.mit.edu	37	18	65181514	65181514	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:65181514G>A	ENST00000310045.7	-	2	1835	c.362C>T	c.(361-363)gCt>gTt	p.A121V	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	111					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGCAAAATCAGCATGCTTTGG	0.413																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(361-363)gCt>gTt		dermatan sulfate epimerase-like							117.0	103.0	108.0					18																	65181514		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181514G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.362C>T	18.37:g.65181514G>A	ENSP00000310565:p.Ala121Val						p.A121V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	1835	-		Esophageal squamous(42;0.129)	111					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.362C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966858	0.34659	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.26518	1.73	4.69	2.8	0.32819	.	0.427152	0.22080	U	0.064904	T	0.17662	0.0424	L	0.35723	1.085	0.30123	N	0.805486	B	0.06786	0.001	B	0.06405	0.002	T	0.13202	-1.0518	10	0.29301	T	0.29	-4.9766	7.6278	0.28222	0.0836:0.0:0.628:0.2884	.	111	Q8IZU8	DSEL_HUMAN	V	121;111	ENSP00000310565:A121V	ENSP00000310565:A121V	A	-	2	0	DSEL	63332494	1.000000	0.71417	0.465000	0.27155	0.979000	0.70002	3.102000	0.50291	0.469000	0.27268	0.561000	0.74099	GCT		0.413	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		42	47	0	0	0	1	0	42	47				
POU3F4	5456	broad.mit.edu	37	X	82764214	82764214	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:82764214G>T	ENST00000373200.2	+	1	946	c.882G>T	c.(880-882)gaG>gaT	p.E294D	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	294					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGTACTGGAGACGCATTTCC	0.602																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(880-882)gaG>gaT		POU class 3 homeobox 4							48.0	36.0	40.0					X																	82764214		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764214G>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.882G>T	X.37:g.82764214G>T	ENSP00000362296:p.Glu294Asp					RP3-326L13.2_ENST00000607095.1_RNA	p.E294D	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	946	+			294					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.882G>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221916	0.58560	.	.	ENSG00000196767	ENST00000373200	D	0.97791	-4.54	5.07	1.62	0.23740	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.95470	3.675	0.54753	D	0.999987	D	0.58970	0.984	P	0.58873	0.847	D	0.97567	1.0102	10	0.87932	D	0	.	7.9031	0.29746	0.4207:0.0:0.5793:0.0	.	294	P49335	PO3F4_HUMAN	D	294	ENSP00000362296:E294D	ENSP00000362296:E294D	E	+	3	2	POU3F4	82650870	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.384000	0.34396	-0.026000	0.13895	0.525000	0.51046	GAG		0.602	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		4	1	1	0	0.00024832	1	0.000253518	4	1				
LIMD1	8994	broad.mit.edu	37	3	45715854	45715854	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45715854G>A	ENST00000273317.4	+	7	1865	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	615	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Necessary for nuclear localization.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GAGACCATCCGTGTCGTGTCC	0.582																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1843-1845)cGt>cAt		LIM domains containing 1							97.0	86.0	90.0					3																	45715854		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45715854G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1844G>A	3.37:g.45715854G>A	ENSP00000273317:p.Arg615His						p.R615H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	7	1865	+			615			LIM zinc-binding 3.|Necessary for nuclear localization.		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1844G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654231	0.96724	.	.	ENSG00000144791	ENST00000273317	D	0.87256	-2.23	5.71	5.71	0.89125	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.94155	0.8125	M	0.88512	2.96	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	D	0.94469	0.7683	10	0.66056	D	0.02	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	615	Q9UGP4	LIMD1_HUMAN	H	615	ENSP00000273317:R615H	ENSP00000273317:R615H	R	+	2	0	LIMD1	45690858	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	9.444000	0.97578	2.709000	0.92574	0.655000	0.94253	CGT		0.582	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		12	13	0	0	0	1	0	12	13				
PDHA1	5160	broad.mit.edu	37	X	19369472	19369472	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:19369472G>A	ENST00000422285.2	+	4	470	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PDHA1_ENST00000379805.3_Missense_Mutation_p.G122D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G160D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G122D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G129D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	122					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CGGGCTCACGGCTTTACTTTC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(478-480)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						108.0	100.0	103.0					X																	19369472		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369472G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.365G>A	X.37:g.19369472G>A	ENSP00000394382:p.Gly122Asp					PDHA1_ENST00000540249.1_Missense_Mutation_p.G122D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G129D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G122D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G122D	p.G160D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	624	+	Hepatocellular(33;0.183)		122					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.479G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498027	0.85069	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.54	5.54	0.83059	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.99668	4.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.995;0.996;0.999;0.996	D	0.98433	1.0583	10	0.87932	D	0	-6.4649	15.058	0.71930	0.0:0.1384:0.8616:0.0	.	122;129;122;160;122	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	160;129;122;160;122;129;122	ENSP00000369134:G160D;ENSP00000438550:G129D;ENSP00000440761:G122D;ENSP00000406473:G160D;ENSP00000394382:G122D;ENSP00000348062:G129D;ENSP00000369133:G122D	ENSP00000348062:G129D	G	+	2	0	PDHA1	19279393	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.501000	0.81600	2.475000	0.83589	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			5	73	0	0	0	1	0	5	73				
CDC42BPG	55561	broad.mit.edu	37	11	64594813	64594813	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64594813C>T	ENST00000342711.5	-	33	4207	c.4208G>A	c.(4207-4209)cGc>cAc	p.R1403H		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.R1403H(1)		central_nervous_system(1)|lung(3)	4						GCTCTTGGTGCGGAACAGCTG	0.652																																						ENST00000342711.5																			1	Substitution - Missense(1)	p.R1403H(1)	large_intestine(1)	central_nervous_system(1)|lung(3)	4						c.(4207-4209)cGc>cAc		CDC42 binding protein kinase gamma (DMPK-like)							83.0	94.0	90.0					11																	64594813		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594813C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4208G>A	11.37:g.64594813C>T	ENSP00000345133:p.Arg1403His						p.R1403H	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			33	4207	-			1403						Missense_Mutation	SNP	ENST00000342711.5	37	c.4208G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813769	0.90790	.	.	ENSG00000171219	ENST00000342711	T	0.72051	-0.62	4.82	4.82	0.62117	.	0.000000	0.45126	D	0.000399	D	0.83876	0.5349	M	0.81942	2.565	0.42186	D	0.991703	D	0.89917	1.0	D	0.68621	0.959	D	0.86739	0.1953	10	0.87932	D	0	.	15.8054	0.78501	0.0:1.0:0.0:0.0	.	1403	Q6DT37	MRCKG_HUMAN	H	1403	ENSP00000345133:R1403H	ENSP00000345133:R1403H	R	-	2	0	CDC42BPG	64351389	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.284000	0.51708	2.409000	0.81822	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		34	54	0	0	0	1	0	34	54				
GABRB1	2560	broad.mit.edu	37	4	47427967	47427967	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47427967T>C	ENST00000295454.3	+	9	1649	c.1357T>C	c.(1357-1359)Tcc>Ccc	p.S453P	GABRB1_ENST00000538619.1_Missense_Mutation_p.S383P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAAGTGGTCCCGAATGTT	0.488																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1357-1359)Tcc>Ccc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						113.0	109.0	110.0					4																	47427967		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427967T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1357T>C	4.37:g.47427967T>C	ENSP00000295454:p.Ser453Pro					GABRB1_ENST00000538619.1_Missense_Mutation_p.S383P	p.S453P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1649	+			453					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1357T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609203	0.87258	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.87179	-2.22;-2.22	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.138996	0.49305	D	0.000143	D	0.94918	0.8357	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	D	0.96016	0.9005	10	0.87932	D	0	-19.6964	15.4821	0.75537	0.0:0.0:0.0:1.0	.	383;453	F5GXV5;P18505	.;GBRB1_HUMAN	P	453;383	ENSP00000295454:S453P;ENSP00000440330:S383P	ENSP00000295454:S453P	S	+	1	0	GABRB1	47122724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.244000	0.73946	0.528000	0.53228	TCC		0.488	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			11	146	0	0	0	1	0	11	146				
SGK1	6446	broad.mit.edu	37	6	134491490	134491490	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:134491490G>A	ENST00000237305.7	-	12	1300	c.1212C>T	c.(1210-1212)agC>agT	p.S404S	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Silent_p.S360S|SGK1_ENST00000528577.1_Silent_p.S432S|SGK1_ENST00000367857.5_Silent_p.S394S|SGK1_ENST00000413996.3_Silent_p.S418S|SGK1_ENST00000367858.5_Silent_p.S499S	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	404	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGACGAGGACGCTGTCAGGGG	0.587																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1495-1497)agC>agT		serum/glucocorticoid regulated kinase 1							79.0	71.0	74.0					6																	134491490		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491490G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1212C>T	6.37:g.134491490G>A						SGK1_ENST00000475719.2_Silent_p.S360S|SGK1_ENST00000413996.3_Silent_p.S418S|SGK1_ENST00000528577.1_Silent_p.S432S|SGK1_ENST00000367857.5_Silent_p.S394S|SGK1_ENST00000237305.7_Silent_p.S404S	p.S499S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	14	2094	-	Colorectal(23;0.221)		404					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1497C>T	CCDS5170.1																																																																																				0.587	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			13	29	0	0	0	1	0	13	29				
EPHB6	2051	broad.mit.edu	37	7	142562446	142562446	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562446C>T	ENST00000392957.2	+	7	1675	c.888C>T	c.(886-888)gtC>gtT	p.V296V	EPHB6_ENST00000411471.2_Silent_p.V19V|EPHB6_ENST00000442129.1_Silent_p.V296V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	296	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGTAGCTGTCGGGGGCTGCC	0.662																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(886-888)gtC>gtT		EPH receptor B6							32.0	40.0	37.0					7																	142562446		2095	4163	6258	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562446C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.888C>T	7.37:g.142562446C>T						EPHB6_ENST00000442129.1_Silent_p.V296V|EPHB6_ENST00000411471.2_Silent_p.V19V	p.V296V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1675	+	Melanoma(164;0.059)		296			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.888C>T	CCDS5873.2																																																																																				0.662	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			22	42	0	0	0	1	0	22	42				
TAOK2	9344	broad.mit.edu	37	16	29996844	29996844	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29996844C>T	ENST00000308893.4	+	14	2776	c.1733C>T	c.(1732-1734)gCc>gTc	p.A578V	TAOK2_ENST00000416441.2_Missense_Mutation_p.A405V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A578V|TAOK2_ENST00000543033.1_Missense_Mutation_p.A578V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	578					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCTGGCTGCCCTGCTGGAG	0.637																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1732-1734)gCc>gTc		TAO kinase 2							28.0	25.0	26.0					16																	29996844		2195	4291	6486	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996844C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1733C>T	16.37:g.29996844C>T	ENSP00000310094:p.Ala578Val					TAOK2_ENST00000543033.1_Missense_Mutation_p.A578V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A405V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A578V	p.A578V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2776	+			578					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1733C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676422	0.47886	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.45668	0.89;0.89;0.89	5.27	4.32	0.51571	.	0.387360	0.28958	N	0.013597	T	0.37705	0.1013	N	0.17474	0.49	0.09310	N	1	P;D;B;B;P	0.69078	0.956;0.997;0.031;0.018;0.893	B;P;B;B;P	0.59221	0.444;0.854;0.079;0.02;0.694	T	0.10870	-1.0611	9	.	.	.	.	6.63	0.22851	0.2824:0.6317:0.0:0.0859	.	769;405;578;578;578	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	578	ENSP00000310094:A578V;ENSP00000440336:A578V;ENSP00000279394:A578V	.	A	+	2	0	TAOK2	29904345	0.005000	0.15991	0.049000	0.19019	0.283000	0.27025	1.391000	0.34475	1.227000	0.43598	0.563000	0.77884	GCC		0.637	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		10	14	0	0	0	1	0	10	14				
KNCN	148930	broad.mit.edu	37	1	47014926	47014926	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47014926G>A	ENST00000481882.2	-	3	545	c.234C>T	c.(232-234)atC>atT	p.I78I	KNCN_ENST00000396314.3_Silent_p.I55I|KNCN_ENST00000524908.1_5'UTR|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	78						apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025)		p.I78M(1)		central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GATGGGGATGGATTCTTAGGC	0.527																																						ENST00000481882.2																			1	Substitution - Missense(1)	p.I78M(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4						c.(232-234)atC>atT		kinocilin							108.0	112.0	110.0					1																	47014926		1955	4139	6094	SO:0001819	synonymous_variant	148930					integral to membrane		g.chr1:47014926G>A	AK056573	CCDS44133.1	1p33	2014-02-12	2006-10-26		ENSG00000162456	ENSG00000162456			26488	protein-coding gene	gene with protein product		611455				15855039	Standard	NM_001097611		Approved	FLJ32011, KINO, L5	uc001cpy.2	A6PVL3	OTTHUMG00000007987	ENST00000481882.2:c.234C>T	1.37:g.47014926G>A						KNCN_ENST00000396314.3_Silent_p.I55I|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR	p.I78I			A6PVL3	KNCN_HUMAN			3	545	-	Acute lymphoblastic leukemia(166;0.155)		78					A8MXE3	Silent	SNP	ENST00000481882.2	37	c.234C>T																																																																																					0.527	KNCN-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000316334.2	NM_182516		4	19	0	0	0	1	0	4	19				
CAND2	23066	broad.mit.edu	37	3	12869094	12869094	+	Silent	SNP	C	C	T	rs367749511		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(3364-3366)taC>taT		cullin-associated and neddylation-dissociated 2 (putative)		C	,	1,4065		0,1,2032	108.0	108.0	108.0		3366,3015	-6.0	0.9	3		108	0,8350		0,0,4175	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6207	TT,TC,CC		0.0,0.0246,0.0081	,	1122/1237,1005/1120	12869094	1,12415	2033	4175	6208	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12869094C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3366C>T	3.37:g.12869094C>T						CAND2_ENST00000295989.5_Silent_p.Y1005Y	p.Y1122Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			13	3407	+			1122					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.3366C>T	CCDS54554.1																																																																																				0.562	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		10	33	0	0	0	1	0	10	33				
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)cGt>cAt		striatin, calmodulin binding protein 4							84.0	84.0	84.0					19																	47228829		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228829C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1325G>A	19.37:g.47228829C>T	ENSP00000263280:p.Arg442His					STRN4_ENST00000263280.6_Missense_Mutation_p.R442H|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H	p.R449H			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1796	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	442					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1346G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			9	25	0	0	0	1	0	9	25				
DNAJA1	3301	broad.mit.edu	37	9	33029903	33029903	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33029903C>A	ENST00000330899.4	+	4	514	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	111					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGTACATCAGCTCTCAGTAAC	0.343																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(331-333)Ctc>Atc		DnaJ (Hsp40) homolog, subfamily A, member 1							101.0	102.0	102.0					9																	33029903		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029903C>A	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.331C>A	9.37:g.33029903C>A	ENSP00000369127:p.Leu111Ile					DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	p.L111I	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	514	+			111					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.331C>A	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812327	0.50527	.	.	ENSG00000086061	ENST00000330899	T	0.49720	0.77	5.29	4.15	0.48705	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, N-terminal (1);	0.061993	0.64402	D	0.000008	T	0.47414	0.1444	M	0.78456	2.415	0.80722	D	1	B;B	0.28667	0.219;0.078	B;B	0.33620	0.157;0.167	T	0.55692	-0.8101	10	0.62326	D	0.03	-9.1861	5.4791	0.16713	0.0:0.764:0.0:0.236	.	111;111	Q86TL9;P31689	.;DNJA1_HUMAN	I	111	ENSP00000369127:L111I	ENSP00000369127:L111I	L	+	1	0	DNAJA1	33019903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.688000	0.37690	2.648000	0.89879	0.561000	0.74099	CTC		0.343	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			19	36	1	0	3.51602e-12	1	3.7986e-12	19	36				
SVOPL	136306	broad.mit.edu	37	7	138314816	138314816	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138314816T>C	ENST00000419765.3	-	9	874	c.841A>G	c.(841-843)Aca>Gca	p.T281A	SVOPL_ENST00000436657.1_Missense_Mutation_p.T129A|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Missense_Mutation_p.T161A|SVOPL_ENST00000288513.5_Missense_Mutation_p.T129A	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	281						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCTGTAATGTGGTCCGTAAA	0.373																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(481-483)Aca>Gca		SVOP-like							200.0	172.0	181.0					7																	138314816		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138314816T>C	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.841A>G	7.37:g.138314816T>C	ENSP00000405482:p.Thr281Ala					SVOPL_ENST00000288513.5_Missense_Mutation_p.T129A|SVOPL_ENST00000419765.3_Missense_Mutation_p.T281A|SVOPL_ENST00000436657.1_Missense_Mutation_p.T129A	p.T161A			Q8N434	SVOPL_HUMAN			6	689	-			281						Missense_Mutation	SNP	ENST00000419765.3	37	c.481A>G	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734056	0.69189	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048099	0.85682	D	0.000000	T	0.57873	0.2083	M	0.74389	2.26	0.36879	D	0.88932	P;P	0.39022	0.515;0.655	B;B	0.38264	0.266;0.269	T	0.70212	-0.4934	10	0.87932	D	0	-17.7225	10.8281	0.46645	0.1408:0.0:0.0:0.8591	.	281;129	Q8N434;Q8N434-2	SVOPL_HUMAN;.	A	129;161;129;281	ENSP00000288513:T129A;ENSP00000412830:T161A;ENSP00000417018:T129A;ENSP00000405482:T281A	ENSP00000288513:T129A	T	-	1	0	SVOPL	137965356	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	3.452000	0.52971	2.277000	0.76020	0.528000	0.53228	ACA		0.373	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		33	41	0	0	0	1	0	33	41				
ATF3	467	broad.mit.edu	37	1	212788505	212788505	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:212788505G>A	ENST00000341491.4	+	2	407	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	ATF3_ENST00000366985.1_5'UTR|ATF3_ENST00000366983.1_Missense_Mutation_p.A48T|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000336937.4_Missense_Mutation_p.A19T|ATF3_ENST00000366987.2_Missense_Mutation_p.A48T	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	48					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GCTGAGGTTTGCCATCCAGAA	0.572																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(142-144)Gcc>Acc		activating transcription factor 3							105.0	89.0	94.0					1																	212788505		2203	4300	6503	SO:0001583	missense	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212788505G>A	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.142G>A	1.37:g.212788505G>A	ENSP00000344352:p.Ala48Thr					ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366985.1_5'UTR|ATF3_ENST00000366983.1_Missense_Mutation_p.A48T|ATF3_ENST00000366987.2_Missense_Mutation_p.A48T|ATF3_ENST00000336937.4_Missense_Mutation_p.A19T	p.A48T	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	2	407	+			48					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	c.142G>A	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810154	0.90707	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366983;ENST00000336937	T;T;T;T;T	0.81247	0.44;0.44;0.44;-0.43;-1.47	6.06	5.15	0.70609	.	0.098369	0.64402	N	0.000001	T	0.70518	0.3233	L	0.32530	0.975	0.58432	D	0.999999	B;B;B	0.32653	0.016;0.379;0.002	B;B;B	0.26517	0.019;0.07;0.003	T	0.68142	-0.5487	10	0.30854	T	0.27	-21.9404	15.2522	0.73556	0.067:0.0:0.933:0.0	.	48;48;48	Q7Z567;Q8WYM6;P18847	.;.;ATF3_HUMAN	T	48;48;48;48;19	ENSP00000355948:A48T;ENSP00000355954:A48T;ENSP00000344352:A48T;ENSP00000355950:A48T;ENSP00000336908:A19T	ENSP00000336908:A19T	A	+	1	0	ATF3	210855128	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.725000	0.84808	1.564000	0.49628	0.650000	0.86243	GCC		0.572	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		24	32	0	0	0	1	0	24	32				
ZDBF2	57683	broad.mit.edu	37	2	207170124	207170124	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207170124G>A	ENST00000374423.3	+	5	1258	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	291							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCCATGAACGCATGGGTACT	0.358																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(871-873)cGc>cAc		zinc finger, DBF-type containing 2							36.0	35.0	35.0					2																	207170124		1823	4070	5893	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170124G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.872G>A	2.37:g.207170124G>A	ENSP00000363545:p.Arg291His						p.R291H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1258	+			291					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.872G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.020	-0.424861	0.04734	.	.	ENSG00000204186	ENST00000374423	T	0.18338	2.22	4.96	-3.71	0.04424	.	3.474950	0.01092	N	0.005191	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.18745	-1.0327	10	0.15066	T	0.55	.	3.639	0.08160	0.1375:0.4979:0.1839:0.1807	.	291	Q9HCK1	ZDBF2_HUMAN	H	291	ENSP00000363545:R291H	ENSP00000363545:R291H	R	+	2	0	ZDBF2	206878369	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.479000	0.06567	-0.294000	0.08973	-0.172000	0.13284	CGC		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		3	24	0	0	0	1	0	3	24				
GSG2	83903	broad.mit.edu	37	17	3628288	3628288	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3628288C>T	ENST00000325418.4	+	1	1078	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	353					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										TCCTCCATTCCCACCGCTTTA	0.517																																						ENST00000325418.4																			0											c.(1057-1059)tcC>tcT		germ cell associated 2 (haspin)							66.0	66.0	66.0					17																	3628288		2203	4300	6503	SO:0001819	synonymous_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628288C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1059C>T	17.37:g.3628288C>T						ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.S353S	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1078	+			353					Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	c.1059C>T	CCDS11036.1																																																																																				0.517	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		14	28	0	0	0	1	0	14	28				
RXFP4	339403	broad.mit.edu	37	1	155912363	155912363	+	Missense_Mutation	SNP	C	C	T	rs186678827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155912363C>T	ENST00000368318.3	+	1	884	c.863C>T	c.(862-864)aCg>aTg	p.T288M		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTATCCAGACGTATGTCTTC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19260	0.0		0.001	False		,,,				2504	0.0					ENST00000368318.3																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(862-864)aCg>aTg		relaxin/insulin-like family peptide receptor 4		C	MET/THR	0,4406		0,0,2203	112.0	101.0	105.0		863	2.8	0.0	1		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RXFP4	NM_181885.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	288/375	155912363	2,13004	2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912363C>T	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.863C>T	1.37:g.155912363C>T	ENSP00000357301:p.Thr288Met						p.T288M	NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN			1	884	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		288					B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.863C>T	CCDS1124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.22	1.573295	0.28092	0.0	2.33E-4	ENSG00000173080	ENST00000368318	T	0.72615	-0.67	4.75	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.068202	0.56097	D	0.000028	T	0.47875	0.1469	L	0.43923	1.385	0.34406	D	0.695795	P	0.48230	0.907	B	0.43658	0.426	T	0.49960	-0.8883	10	0.54805	T	0.06	-19.8557	8.4726	0.32995	0.0:0.7579:0.1548:0.0873	.	288	Q8TDU9	RL3R2_HUMAN	M	288	ENSP00000357301:T288M	ENSP00000357301:T288M	T	+	2	0	RXFP4	154178987	0.006000	0.16342	0.001000	0.08648	0.216000	0.24613	1.764000	0.38471	0.582000	0.29556	0.655000	0.94253	ACG		0.547	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		28	47	0	0	0	1	0	28	47				
CLTCL1	8218	broad.mit.edu	37	22	19230441	19230441	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19230441C>T	ENST00000263200.10	-	4	610	c.538G>A	c.(538-540)Gca>Aca	p.A180T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A180T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A180T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	180	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGCTGCATTGCTCCAACCACA	0.408			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(538-540)Gca>Aca		clathrin, heavy chain-like 1							59.0	54.0	56.0					22																	19230441		1882	4120	6002	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19230441C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.538G>A	22.37:g.19230441C>T	ENSP00000445677:p.Ala180Thr					CLTCL1_ENST00000353891.5_Missense_Mutation_p.A180T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A180T	p.A180T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			4	610	-	Colorectal(54;0.0993)		180			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.538G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333525	0.41297	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22539	1.95;1.95;1.95	3.85	2.83	0.33086	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.171591	0.38548	N	0.001655	T	0.36413	0.0966	M	0.66297	2.02	0.53688	D	0.999971	P;P	0.44090	0.667;0.826	P;P	0.61003	0.62;0.882	T	0.11717	-1.0576	10	0.14656	T	0.56	-1.0517	11.088	0.48099	0.0:0.9086:0.0:0.0914	.	180;180	P53675-2;P53675	.;CLH2_HUMAN	T	180	ENSP00000439662:A180T;ENSP00000445677:A180T;ENSP00000441158:A180T	ENSP00000445677:A180T	A	-	1	0	CLTCL1	17610441	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	5.116000	0.64661	0.814000	0.34374	0.655000	0.94253	GCA		0.408	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	16	0	0	0	1	0	10	16				
ALDH8A1	64577	broad.mit.edu	37	6	135265038	135265038	+	Missense_Mutation	SNP	G	G	A	rs188218462	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135265038G>A	ENST00000265605.2	-	2	273	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R69C|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R69C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	69					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACCCGTGAGCGCTCCTGGGGG	0.592													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18302	0.001		0.0	False		,,,				2504	0.0					ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(205-207)Cgc>Tgc		aldehyde dehydrogenase 8 family, member A1							47.0	51.0	49.0					6																	135265038		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135265038G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.205C>T	6.37:g.135265038G>A	ENSP00000265605:p.Arg69Cys					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R69C|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R69C	p.R69C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	2	273	-	Colorectal(23;0.221)		69					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.205C>T	CCDS5171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.7	4.442041	0.83993	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.62364	0.03;0.03;0.03	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	H	0.98426	4.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.89642	0.3863	10	0.87932	D	0	.	13.5084	0.61497	0.0:0.0:0.7452:0.2548	.	69;69;69	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	C	69	ENSP00000265605:R69C;ENSP00000356819:R69C;ENSP00000356821:R69C	ENSP00000265605:R69C	R	-	1	0	ALDH8A1	135306731	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.926000	0.56491	2.890000	0.99128	0.586000	0.80456	CGC		0.592	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			18	24	0	0	0	1	0	18	24				
CLTCL1	8218	broad.mit.edu	37	22	19168289	19168289	+	Missense_Mutation	SNP	G	G	A	rs201397985	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19168289G>A	ENST00000263200.10	-	31	4930	c.4858C>T	c.(4858-4860)Cgc>Tgc	p.R1620C	CLTCL1_ENST00000442042.2_5'UTR|SLC25A1_ENST00000215882.5_5'Flank|SLC25A1_ENST00000451283.1_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1563C|SLC25A1_ENST00000461267.1_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1620C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1620	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.		R -> H (in dbSNP:rs5748024).	RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTTGCTTGCGCAGACTCTCC	0.602			T	?	ALCL								G|||	2	0.000399361	0.0	0.0029	5008	,	,		20311	0.0		0.0	False		,,,				2504	0.0					ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4858-4860)Cgc>Tgc		clathrin, heavy chain-like 1		G	CYS/ARG,CYS/ARG	0,4276		0,0,2138	85.0	93.0	91.0		4687,4858	-4.9	0.0	22		91	2,8514		0,2,4256	no	missense,missense	CLTCL1	NM_001835.3,NM_007098.3	180,180	0,2,6394	AA,AG,GG		0.0235,0.0,0.0156	probably-damaging,probably-damaging	1563/1584,1620/1641	19168289	2,12790	2138	4258	6396	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19168289G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4858C>T	22.37:g.19168289G>A	ENSP00000445677:p.Arg1620Cys					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1563C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1620C|CLTCL1_ENST00000442042.2_5'UTR	p.R1620C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			31	4930	-	Colorectal(54;0.0993)		1620	RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909).	R -> H (in dbSNP:rs5748024).	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4858C>T	CCDS46662.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.60	1.988042	0.35036	0.0	2.35E-4	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.33438	1.41;1.41;1.41	4.81	-4.88	0.03113	.	0.540718	0.17323	N	0.178427	T	0.46964	0.1420	M	0.90309	3.105	0.21762	N	0.999551	B;B;D	0.59357	0.016;0.0;0.985	B;B;P	0.59115	0.002;0.0;0.852	T	0.38585	-0.9654	10	0.72032	D	0.01	0.3547	5.6115	0.17408	0.2874:0.0:0.2265:0.4861	.	1563;349;1620	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	C	1563;1620;1620	ENSP00000439662:R1563C;ENSP00000445677:R1620C;ENSP00000441158:R1620C	ENSP00000445677:R1620C	R	-	1	0	CLTCL1	17548289	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.145000	0.10265	-0.552000	0.06167	-0.137000	0.14449	CGC		0.602	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	55	0	0	0	1	0	4	55				
APOBEC1	339	broad.mit.edu	37	12	7805382	7805382	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7805382G>T	ENST00000229304.4	-	3	114	c.94C>A	c.(94-96)Ctt>Att	p.L32I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	32					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCTTTACGAAGTTCTCTGGGG	0.478																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(94-96)Ctt>Att		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							46.0	47.0	47.0					12																	7805382		2203	4298	6501	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805382G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.94C>A	12.37:g.7805382G>T	ENSP00000229304:p.Leu32Ile						p.L32I	NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN			3	114	-			32					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.94C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772899	0.31411	.	.	ENSG00000111701	ENST00000229304	T	0.65732	-0.17	4.48	2.63	0.31362	APOBEC-like, N-terminal (1);	0.142736	0.32548	N	0.005949	T	0.64875	0.2638	M	0.75447	2.3	0.09310	N	1	P	0.46859	0.885	P	0.51324	0.666	T	0.54262	-0.8320	10	0.18710	T	0.47	-16.1424	7.195	0.25847	0.2118:0.0:0.7882:0.0	.	32	P41238	ABEC1_HUMAN	I	32	ENSP00000229304:L32I	ENSP00000229304:L32I	L	-	1	0	APOBEC1	7696649	0.042000	0.20092	0.011000	0.14972	0.240000	0.25518	1.647000	0.37260	0.453000	0.26858	0.462000	0.41574	CTT		0.478	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		16	32	1	0	1.02788e-11	1	1.10723e-11	16	32				
NAV3	89795	broad.mit.edu	37	12	78579429	78579429	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:78579429G>A	ENST00000397909.2	+	31	5914	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	NAV3_ENST00000266692.7_Missense_Mutation_p.R1715H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1892H|NAV3_ENST00000228327.6_Missense_Mutation_p.R1892H|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1914						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1892H(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATGGCCGCAGTGTGAAA	0.343										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.R1892H(1)	endometrium(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(5740-5742)cGc>cAc		neuron navigator 3							132.0	121.0	125.0					12																	78579429		1882	4117	5999	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78579429G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5741G>A	12.37:g.78579429G>A	ENSP00000381007:p.Arg1914His	HNSCC(70;0.22)				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.R1715H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1892H|NAV3_ENST00000228327.6_Missense_Mutation_p.R1892H	p.R1914H			Q8IVL0	NAV3_HUMAN			31	5914	+			1914					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5741G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.637551	0.87760	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.29397	1.63;1.61;1.62;1.57;2.45	5.81	5.81	0.92471	.	0.177347	0.26883	U	0.022003	T	0.23289	0.0563	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.19445	0.036;0.003;0.012;0.017	B;B;B;B	0.13407	0.009;0.005;0.002;0.007	T	0.06607	-1.0817	10	0.13853	T	0.58	-13.5347	11.065	0.47970	0.1116:0.0:0.8884:0.0	.	1892;1715;1914;1892	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	H	1892;1914;1892;1715;506;514	ENSP00000446132:R1892H;ENSP00000381007:R1914H;ENSP00000228327:R1892H;ENSP00000266692:R1715H;ENSP00000448303:R514H	ENSP00000228327:R1892H	R	+	2	0	NAV3	77103560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	2.746000	0.94184	0.655000	0.94253	CGC		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		33	59	0	0	0	1	0	33	59				
PLCB2	5330	broad.mit.edu	37	15	40590845	40590845	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40590845C>A	ENST00000260402.3	-	10	1164	c.915G>T	c.(913-915)caG>caT	p.Q305H	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q305H|PLCB2_ENST00000456256.2_Missense_Mutation_p.Q305H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	305					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCAGCTTGTCCTGGGCCAGCA	0.567																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(913-915)caG>caT		phospholipase C, beta 2							98.0	102.0	101.0					15																	40590845		2152	4246	6398	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590845C>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.915G>T	15.37:g.40590845C>A	ENSP00000260402:p.Gln305His					PLCB2_ENST00000557821.1_Missense_Mutation_p.Q305H|PLCB2_ENST00000456256.2_Missense_Mutation_p.Q305H	p.Q305H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	10	1164	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	305					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.915G>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049659	0.19827	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.17528	2.27;2.27	4.67	-2.52	0.06346	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.226535	0.37906	N	0.001899	T	0.08044	0.0201	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.003	T	0.14587	-1.0467	10	0.56958	D	0.05	.	2.7199	0.05198	0.2072:0.3561:0.3008:0.1359	.	305;305;305	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	305	ENSP00000260402:Q305H;ENSP00000411991:Q305H	ENSP00000260402:Q305H	Q	-	3	2	PLCB2	38378137	0.341000	0.24801	0.991000	0.47740	0.968000	0.65278	-0.315000	0.08081	-0.301000	0.08882	-0.264000	0.10439	CAG		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	12	1	0	0.014758	1	0.0148771	5	12				
SIPA1L1	26037	broad.mit.edu	37	14	72055848	72055848	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72055848A>G	ENST00000555818.1	+	2	1607	c.1259A>G	c.(1258-1260)gAg>gGg	p.E420G	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E420G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E420G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	420					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCGGAATGAGATAGGTGGA	0.458																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1258-1260)gAg>gGg		signal-induced proliferation-associated 1 like 1							104.0	102.0	103.0					14																	72055848		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055848A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1259A>G	14.37:g.72055848A>G	ENSP00000450832:p.Glu420Gly					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E420G|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E420G	p.E420G	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1607	+			420					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1259A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077389	0.76415	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.94138	-3.36;-3.31;-3.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.979	D	0.97878	1.0290	10	0.87932	D	0	-33.2649	16.6406	0.85098	1.0:0.0:0.0:0.0	.	420;420;420	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	G	420	ENSP00000370630:E420G;ENSP00000450832:E420G;ENSP00000351352:E420G	ENSP00000351352:E420G	E	+	2	0	SIPA1L1	71125601	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	GAG		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	22	0	0	0	1	0	14	22				
RNF20	56254	broad.mit.edu	37	9	104323384	104323384	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104323384G>A	ENST00000389120.3	+	18	2611	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	841					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATGGAGGCAGCCCAGCTTGC	0.428																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2521-2523)Gcc>Acc		ring finger protein 20, E3 ubiquitin protein ligase							75.0	69.0	71.0					9																	104323384		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104323384G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2521G>A	9.37:g.104323384G>A	ENSP00000373772:p.Ala841Thr						p.A841T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	18	2611	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	841					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2521G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899108	0.91962	.	.	ENSG00000155827	ENST00000389120	T	0.34072	1.38	5.68	5.68	0.88126	.	0.097898	0.64402	D	0.000001	T	0.42426	0.1202	M	0.68952	2.095	0.54753	D	0.999988	P	0.46784	0.884	P	0.46452	0.517	T	0.13737	-1.0498	10	0.16896	T	0.51	-11.5568	14.5865	0.68328	0.0:0.0:0.8539:0.1461	.	841	Q5VTR2	BRE1A_HUMAN	T	841	ENSP00000373772:A841T	ENSP00000373772:A841T	A	+	1	0	RNF20	103363205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.075000	0.71261	2.835000	0.97688	0.650000	0.86243	GCC		0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		19	29	0	0	0	1	0	19	29				
DDR1	780	broad.mit.edu	37	6	30866025	30866025	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30866025C>T	ENST00000324771.8	+	18	2940	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	DDR1_ENST00000376569.3_Missense_Mutation_p.R761C|DDR1_ENST00000376570.4_Missense_Mutation_p.R761C|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.R761C|DDR1_ENST00000376568.3_Missense_Mutation_p.R798C|DDR1_ENST00000418800.2_Missense_Mutation_p.R761C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.R798C|DDR1_ENST00000508312.1_Missense_Mutation_p.R779C|DDR1_ENST00000454612.2_Missense_Mutation_p.R761C|DDR1_ENST00000376575.3_Missense_Mutation_p.R804C|DDR1_ENST00000513240.1_Missense_Mutation_p.R804C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGACTATTACCGTGTGCAGGG	0.607																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2392-2394)Cgt>Tgt		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						63.0	55.0	57.0					6																	30866025		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30866025C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2392C>T	6.37:g.30866025C>T	ENSP00000318217:p.Arg798Cys					DDR1_ENST00000376568.3_Missense_Mutation_p.R798C|DDR1_ENST00000376569.3_Missense_Mutation_p.R761C|DDR1_ENST00000376575.3_Missense_Mutation_p.R804C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.R761C|DDR1_ENST00000452441.1_Missense_Mutation_p.R798C|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000508312.1_Missense_Mutation_p.R779C|DDR1_ENST00000376567.2_Missense_Mutation_p.R761C|DDR1_ENST00000418800.2_Missense_Mutation_p.R761C|DDR1_ENST00000513240.1_Missense_Mutation_p.R804C|DDR1_ENST00000454612.2_Missense_Mutation_p.R761C	p.R798C			Q08345	DDR1_HUMAN			18	2940	+			798			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.2392C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247625	0.80024	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.11	4.24	0.50183	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.91635	0.998;0.911;0.999;0.999	D	0.87094	0.2174	10	0.87932	D	0	.	12.7777	0.57457	0.165:0.835:0.0:0.0	.	779;262;804;798	B7Z2K0;A2ABL4;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	C	798;761;761;761;804;761;798;798;779;761;804	ENSP00000318217:R798C;ENSP00000407699:R761C;ENSP00000406091:R761C;ENSP00000365753:R761C;ENSP00000365759:R804C;ENSP00000365754:R761C;ENSP00000365752:R798C;ENSP00000405039:R798C;ENSP00000422442:R779C;ENSP00000365751:R761C;ENSP00000427552:R804C	ENSP00000318217:R798C	R	+	1	0	DDR1	30974004	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.854000	0.55949	1.357000	0.45904	0.563000	0.77884	CGT		0.607	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		12	13	0	0	0	1	0	12	13				
TUBBP1	92755	broad.mit.edu	37	8	30209889	30209889	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30209889G>T	ENST00000518096.1	+	0	501									tubulin, beta pseudogene 1																		TGGTACGGAAGGAGGCAGAGA	0.577																																						ENST00000518096.1																			0																																																			0							g.chr8:30209889G>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209889G>T														0	501	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.577	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		11	12	1	0	9.70103e-10	1	1.03282e-09	11	12				
DGKD	8527	broad.mit.edu	37	2	234350570	234350570	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234350570C>A	ENST00000264057.2	+	10	1135	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	DGKD_ENST00000409813.3_Missense_Mutation_p.L331M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	375	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATTCCGGATTCTGGTTTGTGG	0.512																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(1123-1125)Ctg>Atg		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						132.0	125.0	128.0					2																	234350570		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234350570C>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1123C>A	2.37:g.234350570C>A	ENSP00000264057:p.Leu375Met					DGKD_ENST00000409813.3_Missense_Mutation_p.L331M	p.L375M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	10	1135	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	375			DAGKc.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1123C>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007447	0.75046	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.49432	0.78;0.78	3.54	2.66	0.31614	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.56097	D	0.000026	T	0.68146	0.2969	M	0.82823	2.61	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.73161	-0.4070	10	0.87932	D	0	.	11.7848	0.52037	0.0:0.9116:0.0:0.0884	.	259;331;375	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	M	375;331	ENSP00000264057:L375M;ENSP00000386455:L331M	ENSP00000264057:L375M	L	+	1	2	DGKD	234015309	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.150000	0.50662	1.073000	0.40885	0.557000	0.71058	CTG		0.512	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		24	44	1	0	3.62531e-18	1	3.99936e-18	24	44				
FBN1	2200	broad.mit.edu	37	15	48829912	48829912	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:48829912G>A	ENST00000316623.5	-	7	1087	c.632C>T	c.(631-633)gCc>gTc	p.A211V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCGACTGTGGCACAGCAGAG	0.572																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(631-633)gCc>gTc		fibrillin 1							77.0	78.0	77.0					15																	48829912		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48829912G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.632C>T	15.37:g.48829912G>A	ENSP00000325527:p.Ala211Val						p.A211V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	7	1087	-		all_lung(180;0.00279)	211			TB 1.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.632C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584317	0.96578	.	.	ENSG00000166147	ENST00000316623	D	0.93307	-3.2	5.44	5.44	0.79542	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96424	0.9314	10	0.72032	D	0.01	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	211	P35555	FBN1_HUMAN	V	211	ENSP00000325527:A211V	ENSP00000325527:A211V	A	-	2	0	FBN1	46617204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.828000	0.97474	0.655000	0.94253	GCC		0.572	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			26	43	0	0	0	1	0	26	43				
PSKH1	5681	broad.mit.edu	37	16	67942830	67942830	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67942830C>T	ENST00000291041.5	+	2	348	c.178C>T	c.(178-180)Cac>Tac	p.H60Y		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	60						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TCAGTATGCACACCCCTGCCC	0.602																																						ENST00000291041.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12						c.(178-180)Cac>Tac		protein serine kinase H1							94.0	73.0	80.0					16																	67942830		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67942830C>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.178C>T	16.37:g.67942830C>T	ENSP00000291041:p.His60Tyr						p.H60Y	NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	348	+		Ovarian(137;0.192)	60					Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.178C>T	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311415	0.23821	.	.	ENSG00000159792	ENST00000291041	T	0.68181	-0.31	5.59	1.02	0.19986	.	1.288580	0.04824	N	0.437515	T	0.55226	0.1907	L	0.36672	1.1	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.42965	-0.9420	10	0.52906	T	0.07	-1.7101	4.9755	0.14138	0.6123:0.2086:0.0975:0.0816	.	60	P11801	KPSH1_HUMAN	Y	60	ENSP00000291041:H60Y	ENSP00000291041:H60Y	H	+	1	0	PSKH1	66500331	0.007000	0.16637	0.966000	0.40874	0.716000	0.41182	0.400000	0.20932	0.225000	0.20959	0.655000	0.94253	CAC		0.602	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		11	8	0	0	0	1	0	11	8				
GTF3C4	9329	broad.mit.edu	37	9	135554266	135554266	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135554266C>T	ENST00000372146.4	+	2	1824	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	GTF3C4_ENST00000483873.2_Splice_Site_p.A141V	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	420					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGTCACAGGCCTTCACTCAC	0.468																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000483873.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.e3-1		general transcription factor IIIC, polypeptide 4, 90kDa							126.0	120.0	122.0					9																	135554266		2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554266C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1260C>T	9.37:g.135554266C>T						GTF3C4_ENST00000372146.4_Silent_p.G420G	p.A141_splice			Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	3	986	+			0					Q5VZJ7	Splice_Site	SNP	ENST00000372146.4	37	c.420_splice	CCDS6953.1																																																																																				0.468	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			12	82	0	0	0	1	0	12	82				
TNFAIP6	7130	broad.mit.edu	37	2	152220548	152220548	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:152220548C>T	ENST00000243347.3	+	2	261	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	62	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AATTTGAAGGCGGCCATCTCG	0.448																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(184-186)ggC>ggT		tumor necrosis factor, alpha-induced protein 6							69.0	66.0	67.0					2																	152220548		2203	4300	6503	SO:0001819	synonymous_variant	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152220548C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.186C>T	2.37:g.152220548C>T							p.G62G	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	261	+			62			Link.		Q53TI7|Q8WWI9	Silent	SNP	ENST00000243347.3	37	c.186C>T	CCDS2193.1																																																																																				0.448	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		10	24	0	0	0	1	0	10	24				
PUS7L	83448	broad.mit.edu	37	12	44124291	44124291	+	Missense_Mutation	SNP	G	G	A	rs139103690	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44124291G>A	ENST00000416848.2	-	9	2482	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M	PUS7L_ENST00000344862.5_Missense_Mutation_p.T665M|PUS7L_ENST00000551923.1_Missense_Mutation_p.T665M|PUS7L_ENST00000431332.3_Missense_Mutation_p.T352M	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	665					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GGAACCTTTCGTTTTGACATC	0.368													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20598	0.001		0.0	False		,,,				2504	0.0					ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1993-1995)aCg>aTg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	153.0	139.0	144.0		1994,1994,1994	-10.3	0.0	12	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PUS7L	NM_001098614.1,NM_001098615.1,NM_031292.3	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	665/702,665/702,665/702	44124291	2,13004	2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124291G>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1994C>T	12.37:g.44124291G>A	ENSP00000415899:p.Thr665Met					PUS7L_ENST00000431332.3_Missense_Mutation_p.T352M|PUS7L_ENST00000344862.5_Missense_Mutation_p.T665M|PUS7L_ENST00000551923.1_Missense_Mutation_p.T665M	p.T665M	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	9	2482	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	665					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1994C>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607772	0.03717	0.0	2.33E-4	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.44881	1.9;1.9;1.9;0.91	5.13	-10.3	0.00346	Pseudouridine synthase, catalytic domain (1);	1.430810	0.03794	N	0.263368	T	0.28300	0.0699	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10567	-1.0624	10	0.39692	T	0.17	5.8806	4.2199	0.10552	0.4875:0.0778:0.2831:0.1517	.	665	Q9H0K6	PUS7L_HUMAN	M	665;665;665;352	ENSP00000415899:T665M;ENSP00000343081:T665M;ENSP00000447706:T665M;ENSP00000398497:T352M	ENSP00000343081:T665M	T	-	2	0	PUS7L	42410558	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.814000	0.00753	-2.658000	0.00420	-1.874000	0.00550	ACG		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		24	39	0	0	0	1	0	24	39				
DDR2	4921	broad.mit.edu	37	1	162749928	162749928	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:162749928T>C	ENST00000367922.3	+	19	2898	c.2460T>C	c.(2458-2460)tgT>tgC	p.C820C	DDR2_ENST00000367921.3_Silent_p.C820C|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CAGCCATTTGTCCTGACTCTG	0.453																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2458-2460)tgT>tgC		discoidin domain receptor tyrosine kinase 2							206.0	201.0	203.0					1																	162749928		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749928T>C	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2460T>C	1.37:g.162749928T>C						DDR2_ENST00000367921.3_Silent_p.C820C	p.C820C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2898	+	all_hematologic(112;0.115)		820			Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.2460T>C	CCDS1241.1																																																																																				0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		65	87	0	0	0	1	0	65	87				
ADCY5	111	broad.mit.edu	37	3	123009994	123009994	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:123009994C>T	ENST00000462833.1	-	18	4505	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	ADCY5_ENST00000309879.5_Missense_Mutation_p.R748Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.R756Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1098	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ATTGAGTAGCCGCAGGCACTC	0.592																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3292-3294)cGg>cAg		adenylate cyclase 5							65.0	53.0	57.0					3																	123009994		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123009994C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3293G>A	3.37:g.123009994C>T	ENSP00000419361:p.Arg1098Gln					ADCY5_ENST00000309879.5_Missense_Mutation_p.R748Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.R756Q	p.R1098Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4505	-			1098			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3293G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418982	0.96092	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81415	-1.49;-1.49;-1.49	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.88343	0.6411	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.89797	0.3972	10	0.87932	D	0	.	17.4829	0.87679	0.0:1.0:0.0:0.0	.	1098;756	O95622;B3KWA8	ADCY5_HUMAN;.	Q	1098;756;748	ENSP00000419361:R1098Q;ENSP00000418537:R756Q;ENSP00000308685:R748Q	ENSP00000308685:R748Q	R	-	2	0	ADCY5	124492684	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.646000	0.83445	2.362000	0.80069	0.563000	0.77884	CGG		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		7	7	0	0	0	1	0	7	7				
PLCH2	9651	broad.mit.edu	37	1	2436272	2436272	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2436272G>A	ENST00000419816.2	+	22	4145	c.3871G>A	c.(3871-3873)Ggg>Agg	p.G1291R	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.G1291R|PLCH2_ENST00000378488.3_Missense_Mutation_p.G1255R			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1291					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCGGGTGTCGGGGCCAGGGGT	0.687																																						ENST00000419816.2																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(3871-3873)Ggg>Agg		phospholipase C, eta 2							10.0	13.0	12.0					1																	2436272		1971	4123	6094	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2436272G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3871G>A	1.37:g.2436272G>A	ENSP00000389803:p.Gly1291Arg					PLCH2_ENST00000378488.3_Missense_Mutation_p.G1255R|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.G1291R|PLCH2_ENST00000449969.1_3'UTR	p.G1291R			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	4145	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1291					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3871G>A		.	.	.	.	.	.	.	.	.	.	G	10.09	1.254416	0.22965	.	.	ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878	T;T	0.23147	2.04;1.92	4.16	3.24	0.37175	.	5.746630	0.00166	N	0.000018	T	0.26085	0.0636	N	0.24115	0.695	0.51233	D	0.999917	P;P	0.40602	0.723;0.723	B;B	0.41723	0.365;0.203	T	0.03673	-1.1014	10	0.33940	T	0.23	.	13.0351	0.58864	0.0:0.1634:0.8366:0.0	.	1043;1291	B9DI82;O75038	.;PLCH2_HUMAN	R	1291;1255;1043	ENSP00000367747:G1291R;ENSP00000367749:G1255R	ENSP00000278878:G1043R	G	+	1	0	PLCH2	2426132	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.155000	0.10115	0.759000	0.33084	-0.326000	0.08463	GGG		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		5	8	0	0	0	1	0	5	8				
PIGQ	9091	broad.mit.edu	37	16	624509	624509	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:624509C>T	ENST00000026218.5	+	2	523	c.435C>T	c.(433-435)acC>acT	p.T145T	PIGQ_ENST00000470411.2_Silent_p.T145T|PIGQ_ENST00000321878.5_Silent_p.T145T|PIGQ_ENST00000409527.2_Silent_p.T145T	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	145					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACCTGCCCACCGTCCTGCCCG	0.672																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(433-435)acC>acT		phosphatidylinositol glycan anchor biosynthesis, class Q							18.0	14.0	15.0					16																	624509		2191	4291	6482	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:624509C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.435C>T	16.37:g.624509C>T						PIGQ_ENST00000026218.5_Silent_p.T145T|PIGQ_ENST00000409527.2_Silent_p.T145T|PIGQ_ENST00000470411.2_Silent_p.T145T	p.T145T	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			2	594	+		Hepatocellular(780;0.00335)	145					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.435C>T	CCDS10411.1																																																																																				0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	7	0	0	0	1	0	4	7				
N4BP2	55728	broad.mit.edu	37	4	40108585	40108585	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40108585G>A	ENST00000261435.6	+	5	1855	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	480					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TATATAAATGGACAGTACCAG	0.333																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1438-1440)gGa>gAa		NEDD4 binding protein 2							73.0	78.0	76.0					4																	40108585		2203	4299	6502	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40108585G>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1439G>A	4.37:g.40108585G>A	ENSP00000261435:p.Gly480Glu						p.G480E	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			5	1855	+			480					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1439G>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.653402|4.653402	0.88056|0.88056	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.49139|.	0.79|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71995|.	0.3406|.	L|L	0.56124|0.56124	1.755|1.755	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.68315|.	-0.5441|.	10|.	0.87932|.	D|.	0|.	-20.4309|-20.4309	19.5377|19.5377	0.95260|0.95260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	480;480|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	E|X	480;400|126	ENSP00000261435:G480E|.	ENSP00000261435:G480E|.	G|W	+|+	2|3	0|0	N4BP2|N4BP2	39784980|39784980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.639000|4.639000	0.61361|0.61361	2.689000|2.689000	0.91719|0.91719	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		20	41	0	0	0	1	0	20	41				
FNDC3B	64778	broad.mit.edu	37	3	172046812	172046812	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:172046812G>A	ENST00000336824.4	+	12	1424	c.1325G>A	c.(1324-1326)tGt>tAt	p.C442Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.C442Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.C442Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	442	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAAAGCTTTGTCCGGCAATG	0.463																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(1324-1326)tGt>tAt		fibronectin type III domain containing 3B							139.0	132.0	134.0					3																	172046812		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172046812G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1325G>A	3.37:g.172046812G>A	ENSP00000338523:p.Cys442Tyr					FNDC3B_ENST00000416957.1_Missense_Mutation_p.C442Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.C442Y	p.C442Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	12	1424	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		442			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1325G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221300	0.39300	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56275	0.47;0.47;0.47	5.63	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086883	0.85682	D	0.000000	T	0.31765	0.0807	N	0.12569	0.235	0.80722	D	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.002	T	0.23119	-1.0197	10	0.02654	T	1	-9.667	16.2043	0.82114	0.0:0.0:0.8658:0.1342	.	442;442	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	442	ENSP00000411242:C442Y;ENSP00000338523:C442Y;ENSP00000389094:C442Y	ENSP00000338523:C442Y	C	+	2	0	FNDC3B	173529506	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	3.237000	0.51344	1.502000	0.48669	0.655000	0.94253	TGT		0.463	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		26	39	0	0	0	1	0	26	39				
AAK1	22848	broad.mit.edu	37	2	69757829	69757829	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:69757829C>T	ENST00000409085.4	-	7	1042	c.666G>A	c.(664-666)acG>acA	p.T222T	AAK1_ENST00000470281.1_5'Flank|AAK1_ENST00000409068.1_Silent_p.T222T|AAK1_ENST00000406297.3_Silent_p.T222T	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GATAGGACAGCGTTGTGTATC	0.358																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(664-666)acG>acA		AP2 associated kinase 1							146.0	128.0	134.0					2																	69757829		1939	4136	6075	SO:0001819	synonymous_variant	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69757829C>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.666G>A	2.37:g.69757829C>T						AAK1_ENST00000406297.3_Silent_p.T222T|AAK1_ENST00000409068.1_Silent_p.T222T	p.T222T	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			7	1042	-			222			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	c.666G>A	CCDS1893.2																																																																																				0.358	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		15	38	0	0	0	1	0	15	38				
KIAA0100	9703	broad.mit.edu	37	17	26970297	26970297	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26970297C>T	ENST00000528896.2	-	4	355	c.281G>A	c.(280-282)cGt>cAt	p.R94H	KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	94						extracellular region (GO:0005576)		p.R94H(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)					CGTTCTGATACGCACTTCTCC	0.522																																						ENST00000528896.2																			1	Substitution - Missense(1)	p.R94H(1)	endometrium(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						c.(280-282)cGt>cAt		KIAA0100							119.0	121.0	120.0					17																	26970297		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26970297C>T	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.281G>A	17.37:g.26970297C>T	ENSP00000436773:p.Arg94His					KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	p.R94H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			4	355	-	Lung NSC(42;0.00431)		94					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.281G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750312	0.89753	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.46819	0.86	5.53	5.53	0.82687	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.58335	-0.7654	10	0.48119	T	0.1	.	16.608	0.84836	0.0:1.0:0.0:0.0	.	94;94	F6XS94;Q14667	.;K0100_HUMAN	H	94	ENSP00000436773:R94H	ENSP00000005905:R94H	R	-	2	0	KIAA0100	23994424	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	5.200000	0.65158	2.603000	0.88011	0.563000	0.77884	CGT		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		14	53	0	0	0	1	0	14	53				
SEC23A	10484	broad.mit.edu	37	14	39536389	39536389	+	Silent	SNP	C	C	T	rs140246467	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39536389C>T	ENST00000307712.6	-	10	1732	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	SEC23A_ENST00000553925.1_5'UTR|SEC23A_ENST00000545328.2_Silent_p.T376T|SEC23A_ENST00000536508.1_Silent_p.T279T|SEC23A_ENST00000537403.1_Silent_p.T203T	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	405					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTATTTCTAGCGTACCACCAA	0.328																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(607-609)acG>acA		Sec23 homolog A (S. cerevisiae)		C		4,4402	8.1+/-20.4	0,4,2199	116.0	112.0	114.0		1215	-5.6	0.5	14	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEC23A	NM_006364.2		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		405/766	39536389	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39536389C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1215G>A	14.37:g.39536389C>T						SEC23A_ENST00000536508.1_Silent_p.T279T|SEC23A_ENST00000545328.2_Silent_p.T376T|SEC23A_ENST00000307712.6_Silent_p.T405T|SEC23A_ENST00000553925.1_5'UTR	p.T203T			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	6	1811	-	Hepatocellular(127;0.213)		405					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.609G>A	CCDS9668.1																																																																																				0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			35	74	0	0	0	1	0	35	74				
PIK3C2B	5287	broad.mit.edu	37	1	204397287	204397287	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204397287C>T	ENST00000367187.3	-	31	5016	c.4460G>A	c.(4459-4461)aGc>aAc	p.S1487N	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1459N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1487					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGAGCTGGGCTGGTGCCCAT	0.512																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(4459-4461)aGc>aAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							78.0	69.0	72.0					1																	204397287		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204397287C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4460G>A	1.37:g.204397287C>T	ENSP00000356155:p.Ser1487Asn					RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1459N	p.S1487N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		31	5016	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1487					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.4460G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267323	0.23136	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.67698	-0.28;-0.28	5.24	4.32	0.51571	Phox homologous domain (2);	0.156068	0.56097	D	0.000029	T	0.40909	0.1136	N	0.12182	0.205	0.25513	N	0.987441	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.002	T	0.19451	-1.0305	10	0.11794	T	0.64	.	5.4415	0.16511	0.1886:0.6842:0.0:0.1272	.	1459;1487	F5GWN5;O00750	.;P3C2B_HUMAN	N	1487;1459	ENSP00000356155:S1487N;ENSP00000400561:S1459N	ENSP00000356155:S1487N	S	-	2	0	PIK3C2B	202663910	0.958000	0.32768	0.998000	0.56505	0.909000	0.53808	0.538000	0.23160	1.182000	0.42928	0.591000	0.81541	AGC		0.512	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		8	7	0	0	0	1	0	8	7				
MRPL3	11222	broad.mit.edu	37	3	131220553	131220553	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:131220553G>A	ENST00000264995.3	-	2	246	c.99C>T	c.(97-99)caC>caT	p.H33H	MRPL3_ENST00000506946.1_5'Flank|MRPL3_ENST00000425847.2_Silent_p.H60H	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	33					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAAGCCAGATGTGTGTTCTAT	0.348																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(97-99)caC>caT		mitochondrial ribosomal protein L3							110.0	119.0	116.0					3																	131220553		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131220553G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.99C>T	3.37:g.131220553G>A						MRPL3_ENST00000425847.2_Silent_p.H60H	p.H33H	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			2	246	-			33					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.99C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936072	0.18206	.	.	ENSG00000114686	ENST00000511168	T	0.64260	-0.09	5.84	1.83	0.25207	.	0.989114	0.08261	N	0.973039	T	0.56877	0.2015	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.50923	-0.8770	7	0.51188	T	0.08	-3.6348	5.9827	0.19415	0.2955:0.1297:0.5749:0.0	.	.	.	.	Y	48	ENSP00000424107:H48Y	ENSP00000424107:H48Y	H	-	1	0	MRPL3	132703243	0.000000	0.05858	0.011000	0.14972	0.582000	0.36321	0.250000	0.18235	0.372000	0.24591	0.655000	0.94253	CAT		0.348	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		45	70	0	0	0	1	0	45	70				
GIF	2694	broad.mit.edu	37	11	59609965	59609965	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:59609965G>A	ENST00000257248.2	-	4	509	c.462C>T	c.(460-462)gcC>gcT	p.A154A	GIF_ENST00000541311.1_Silent_p.A129A	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	154					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CAAAGCGGACGGCTATCGGCA	0.582																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(385-387)gcC>gcT		gastric intrinsic factor (vitamin B synthesis)							116.0	100.0	105.0					11																	59609965		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59609965G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.462C>T	11.37:g.59609965G>A						GIF_ENST00000257248.2_Silent_p.A154A	p.A129A			P27352	IF_HUMAN			4	621	-			154					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.387C>T	CCDS7977.1																																																																																				0.582	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		18	30	0	0	0	1	0	18	30				
PRPS1L1	221823	broad.mit.edu	37	7	18067098	18067098	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:18067098C>T	ENST00000506618.2	-	1	388	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	103					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGGGGACCGGCTCTTATCCTT	0.473																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(307-309)aGc>aAc		phosphoribosyl pyrophosphate synthetase 1-like 1							152.0	155.0	154.0					7																	18067098		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067098C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.308G>A	7.37:g.18067098C>T	ENSP00000424595:p.Ser103Asn						p.S103N	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	388	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		103					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.308G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505202	0.44558	.	.	ENSG00000229937	ENST00000506618	D	0.91577	-2.87	4.47	3.59	0.41128	.	.	.	.	.	D	0.91600	0.7346	M	0.90977	3.165	.	.	.	B	0.13594	0.008	B	0.21917	0.037	D	0.92316	0.5862	8	0.66056	D	0.02	.	8.5591	0.33501	0.0:0.8945:0.0:0.1055	.	103	P21108	PRPS3_HUMAN	N	103	ENSP00000424595:S103N	ENSP00000424595:S103N	S	-	2	0	PRPS1L1	18033623	1.000000	0.71417	0.982000	0.44146	0.933000	0.57130	3.275000	0.51639	1.252000	0.44001	0.650000	0.86243	AGC		0.473	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		18	95	0	0	0	1	0	18	95				
RRP12	23223	broad.mit.edu	37	10	99133475	99133475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99133475C>T	ENST00000370992.4	-	17	1994	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	RRP12_ENST00000414986.1_Missense_Mutation_p.G567E|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000315563.6_Missense_Mutation_p.G528E|RRP12_ENST00000536831.1_Missense_Mutation_p.G346E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	628						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTGCAGAACCCAGGCAGGAG	0.622																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1882-1884)gGg>gAg		ribosomal RNA processing 12 homolog (S. cerevisiae)							80.0	71.0	74.0					10																	99133475		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99133475C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1883G>A	10.37:g.99133475C>T	ENSP00000360031:p.Gly628Glu					RRP12_ENST00000536831.1_Missense_Mutation_p.G346E|RRP12_ENST00000414986.1_Missense_Mutation_p.G567E|RRP12_ENST00000315563.6_Missense_Mutation_p.G528E	p.G628E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	17	1994	-		Colorectal(252;0.162)	628					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.1883G>A	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568800	0.65765	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.71	4.71	0.59529	Armadillo-type fold (1);Uncharacterised domain NUC173 (1);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.999;0.999	D;P;D;D	0.87578	0.998;0.9;0.971;0.976	D	0.86505	0.1806	9	.	.	.	-28.8224	17.821	0.88650	0.0:1.0:0.0:0.0	.	567;528;346;628	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	E	628;528;567;346	ENSP00000360031:G628E;ENSP00000324315:G528E;ENSP00000414863:G567E;ENSP00000446184:G346E	.	G	-	2	0	RRP12	99123465	1.000000	0.71417	0.974000	0.42286	0.214000	0.24535	7.374000	0.79633	2.440000	0.82611	0.462000	0.41574	GGG		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		15	24	0	0	0	1	0	15	24				
OSBPL11	114885	broad.mit.edu	37	3	125271087	125271087	+	Missense_Mutation	SNP	G	G	A	rs578002517		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125271087G>A	ENST00000296220.5	-	9	1881	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	531					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.A531V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGACATGCGCATTTACACA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16486	0.0		0.0	False		,,,				2504	0.001					ENST00000296220.5																			1	Substitution - Missense(1)	p.A531V(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1591-1593)gCg>gTg		oxysterol binding protein-like 11							127.0	118.0	121.0					3																	125271087		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271087G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1592C>T	3.37:g.125271087G>A	ENSP00000296220:p.Ala531Val						p.A531V	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			9	1881	-			531					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1592C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822167	0.71028	.	.	ENSG00000144909	ENST00000296220	T	0.29917	1.55	4.71	2.93	0.34026	.	0.065888	0.64402	D	0.000003	T	0.40595	0.1123	M	0.75085	2.285	0.36857	D	0.888201	D	0.56746	0.977	P	0.49252	0.604	T	0.53222	-0.8469	10	0.62326	D	0.03	-10.1343	10.9992	0.47596	0.151:0.0:0.849:0.0	.	531	Q9BXB4	OSB11_HUMAN	V	531	ENSP00000296220:A531V	ENSP00000296220:A531V	A	-	2	0	OSBPL11	126753777	1.000000	0.71417	0.304000	0.25085	0.954000	0.61252	7.635000	0.83286	0.609000	0.30018	0.591000	0.81541	GCG		0.373	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		27	49	0	0	0	1	0	27	49				
SCYL2	55681	broad.mit.edu	37	12	100732507	100732507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100732507G>T	ENST00000360820.2	+	18	2784	c.2347G>T	c.(2347-2349)Gga>Tga	p.G783*		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	783	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCAGACTTCAGGATTCAACAT	0.423																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(2347-2349)Gga>Tga		SCY1-like 2 (S. cerevisiae)							112.0	114.0	113.0					12																	100732507		2203	4300	6503	SO:0001587	stop_gained	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732507G>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2347G>T	12.37:g.100732507G>T	ENSP00000354061:p.Gly783*						p.G783*	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			18	2784	+			783			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Nonsense_Mutation	SNP	ENST00000360820.2	37	c.2347G>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	41	9.025453	0.99040	.	.	ENSG00000136021	ENST00000360820	.	.	.	5.63	4.69	0.59074	.	0.144459	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.2571	0.87060	0.0:0.1253:0.8747:0.0	.	.	.	.	X	783	.	ENSP00000354061:G783X	G	+	1	0	SCYL2	99256638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.042000	0.76565	2.828000	0.97474	0.580000	0.79431	GGA		0.423	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		36	54	1	0	6.90743e-12	1	7.45315e-12	36	54				
COCH	1690	broad.mit.edu	37	14	31355287	31355287	+	Missense_Mutation	SNP	C	C	T	rs367884240		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31355287C>T	ENST00000396618.3	+	11	1302	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.R267C|COCH_ENST00000460581.2_Missense_Mutation_p.R304C|COCH_ENST00000475087.1_Missense_Mutation_p.R416C|COCH_ENST00000216361.4_Missense_Mutation_p.R416C|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	416	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTATGATCAGCGCACGGAGTT	0.443																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(910-912)Cgc>Tgc		cochlin		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	138.0	119.0	125.0		1246,1246	6.0	1.0	14		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COCH	NM_001135058.1,NM_004086.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	416/551,416/551	31355287	1,13005	2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355287C>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1246C>T	14.37:g.31355287C>T	ENSP00000379862:p.Arg416Cys					COCH_ENST00000475087.1_Missense_Mutation_p.R416C|COCH_ENST00000216361.4_Missense_Mutation_p.R416C|COCH_ENST00000396618.3_Missense_Mutation_p.R416C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.R267C	p.R304C			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1456	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		416			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.910C>T	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862107	0.71949	0.0	1.16E-4	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.044348	0.85682	D	0.000000	D	0.94245	0.8152	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.91635	0.999;0.999;0.781	D	0.94934	0.8085	10	0.87932	D	0	-3.1287	16.763	0.85517	0.1295:0.8705:0.0:0.0	.	267;416;416	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	C	416;416;416;304;267	ENSP00000216361:R416C;ENSP00000379862:R416C;ENSP00000451528:R416C;ENSP00000451713:R304C;ENSP00000371933:R267C	ENSP00000216361:R416C	R	+	1	0	COCH	30425038	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.405000	0.44548	2.850000	0.98022	0.650000	0.86243	CGC		0.443	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		43	69	0	0	0	1	0	43	69				
DMD	1756	broad.mit.edu	37	X	32662409	32662409	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:32662409C>T	ENST00000357033.4	-	11	1377	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.A383T|DMD_ENST00000378677.2_Missense_Mutation_p.A387T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	391					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCCTGATGGGCTGTCAAATCC	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(1171-1173)Gcc>Acc		dystrophin							97.0	86.0	90.0					X																	32662409		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662409C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1171G>A	X.37:g.32662409C>T	ENSP00000354923:p.Ala391Thr					DMD_ENST00000378677.2_Missense_Mutation_p.A387T|DMD_ENST00000288447.4_Missense_Mutation_p.A383T	p.A391T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			11	1377	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	391					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1171G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544178	0.27563	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.55588	0.51;0.51;0.51	5.77	2.27	0.28462	.	0.533190	0.13727	U	0.366970	T	0.41834	0.1176	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.12013	0.001;0.004;0.003;0.005	B;B;B;B	0.19666	0.002;0.007;0.026;0.013	T	0.20240	-1.0281	10	0.46703	T	0.11	.	14.1389	0.65306	0.4037:0.5963:0.0:0.0	.	383;383;391;387	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	T	383;387;391;391;268;383	ENSP00000367948:A387T;ENSP00000354923:A391T;ENSP00000288447:A383T	ENSP00000288447:A383T	A	-	1	0	DMD	32572330	0.805000	0.28982	0.992000	0.48379	0.749000	0.42624	0.225000	0.17757	0.326000	0.23384	0.594000	0.82650	GCC		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	55	0	0	0	1	0	4	55				
CAD	790	broad.mit.edu	37	2	27460381	27460381	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27460381A>G	ENST00000403525.1	+	27	4486	c.4342A>G	c.(4342-4344)Att>Gtt	p.I1448V	CAD_ENST00000264705.4_Missense_Mutation_p.I1511V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCCATCATTGACGCCCC	0.607																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(4531-4533)Att>Gtt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						54.0	52.0	53.0					2																	27460381		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460381A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4342A>G	2.37:g.27460381A>G	ENSP00000384510:p.Ile1448Val					CAD_ENST00000403525.1_Missense_Mutation_p.I1448V	p.I1511V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			28	4693	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1511			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4531A>G		.	.	.	.	.	.	.	.	.	.	A	2.373	-0.343813	0.05208	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.40225	1.04;1.04	4.38	2.01	0.26516	Amidohydrolase 1 (1);	0.494615	0.23265	N	0.050081	T	0.12732	0.0309	N	0.00926	-1.1	0.33691	D	0.613363	B;B	0.14012	0.003;0.009	B;B	0.10450	0.005;0.004	T	0.19549	-1.0302	10	0.12766	T	0.61	-7.317	7.6595	0.28394	0.8213:0.0:0.1787:0.0	.	1448;1511	F8VPD4;P27708	.;PYR1_HUMAN	V	1511;1448	ENSP00000264705:I1511V;ENSP00000384510:I1448V	ENSP00000264705:I1511V	I	+	1	0	CAD	27313885	0.777000	0.28628	0.075000	0.20258	0.918000	0.54935	1.710000	0.37920	0.245000	0.21373	0.459000	0.35465	ATT		0.607	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	17	0	0	0	1	0	12	17				
IFIT2	3433	broad.mit.edu	37	10	91066770	91066770	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91066770G>A	ENST00000371826.3	+	2	1226	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	353					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTATGAAGACGCAGAGTATTA	0.448																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1057-1059)Gca>Aca		interferon-induced protein with tetratricopeptide repeats 2							64.0	62.0	63.0					10																	91066770		1928	4137	6065	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066770G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1057G>A	10.37:g.91066770G>A	ENSP00000360891:p.Ala353Thr					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.A353T	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1226	+		Colorectal(252;0.0161)	353					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1057G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806591	0.90623	.	.	ENSG00000119922	ENST00000371826	T	0.75050	-0.9	4.58	4.58	0.56647	Tetratricopeptide-like helical (1);	0.145202	0.45606	U	0.000351	D	0.83871	0.5348	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83825	0.0249	10	0.51188	T	0.08	-6.7691	17.6426	0.88140	0.0:0.0:1.0:0.0	.	353	P09913	IFIT2_HUMAN	T	353	ENSP00000360891:A353T	ENSP00000360891:A353T	A	+	1	0	IFIT2	91056750	1.000000	0.71417	0.993000	0.49108	0.868000	0.49771	6.721000	0.74728	2.832000	0.97577	0.655000	0.94253	GCA		0.448	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		5	47	0	0	0	1	0	5	47				
AHRR	57491	broad.mit.edu	37	5	424017	424017	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:424017C>T	ENST00000505113.1	+	7	689	c.645C>T	c.(643-645)acC>acT	p.T215T	AHRR_ENST00000316418.5_Silent_p.T215T|AHRR_ENST00000506456.1_Silent_p.T71T|AHRR_ENST00000512529.1_Silent_p.T61T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACGCCCACCGAGTACTCGG	0.677																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(643-645)acC>acT		aryl-hydrocarbon receptor repressor							45.0	55.0	51.0					5																	424017		2067	4196	6263	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424017C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.645C>T	5.37:g.424017C>T						AHRR_ENST00000512529.1_Silent_p.T61T|AHRR_ENST00000506456.1_Silent_p.T71T|AHRR_ENST00000505113.1_Silent_p.T215T	p.T215T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	689	+			215					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.645C>T	CCDS56355.1																																																																																				0.677	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		20	25	0	0	0	1	0	20	25				
CRLF2	64109	broad.mit.edu	37	X	1317492	1317492	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1317492C>T	ENST00000381567.3	-	5	572	c.573G>A	c.(571-573)gaG>gaA	p.E191E	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	191	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATATACATCCTCCATAGCCT	0.517			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(571-573)gaG>gaA		cytokine receptor-like factor 2							393.0	412.0	406.0					X																	1317492		2089	4199	6288	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1317492C>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.573G>A	X.37:g.1317492C>T						CRLF2_ENST00000467626.1_Intron	p.E191E	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			5	572	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	191			Fibronectin type-III.		Q9H5R3	Silent	SNP	ENST00000381567.3	37	c.573G>A																																																																																					0.517	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		15	41	0	0	0	1	0	15	41				
TMEM26	219623	broad.mit.edu	37	10	63170404	63170404	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:63170404G>T	ENST00000399298.3	-	6	1151	c.783C>A	c.(781-783)gtC>gtA	p.V261V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	261						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CTTGTATGAAGACGCTGATTC	0.498																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(781-783)gtC>gtA		transmembrane protein 26							74.0	77.0	76.0					10																	63170404		2105	4235	6340	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170404G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.783C>A	10.37:g.63170404G>T						TMEM26_ENST00000507507.1_5'UTR	p.V261V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1151	-	Prostate(12;0.0112)		261					Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.783C>A	CCDS41530.1																																																																																				0.498	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		10	11	1	0	7.48243e-07	1	7.8103e-07	10	11				
ATP11A	23250	broad.mit.edu	37	13	113512221	113512221	+	Silent	SNP	G	G	A	rs141765090		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113512221G>A	ENST00000487903.1	+	21	2596	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	ATP11A_ENST00000375630.2_Silent_p.A836A|ATP11A_ENST00000283558.8_Silent_p.A836A|ATP11A_ENST00000375645.3_Silent_p.A836A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	836					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TTCTGGAAGCGCACGTGGGCA	0.493																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2506-2508)gcG>gcA		ATPase, class VI, type 11A		G	,	0,4406		0,0,2203	158.0	145.0	149.0		2508,2508	-1.9	0.7	13	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ATP11A	NM_015205.2,NM_032189.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	836/1135,836/1192	113512221	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113512221G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2508G>A	13.37:g.113512221G>A						ATP11A_ENST00000375630.2_Silent_p.A836A|ATP11A_ENST00000283558.8_Silent_p.A836A|ATP11A_ENST00000375645.3_Silent_p.A836A	p.A836A			P98196	AT11A_HUMAN			21	2596	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	836					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.2508G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455773	0.26161	0.0	2.33E-4	ENSG00000068650	ENST00000418678	.	.	.	5.32	-1.94	0.07571	.	.	.	.	.	T	0.53238	0.1784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46428	-0.9192	4	.	.	.	.	8.3323	0.32193	0.3271:0.3367:0.3362:0.0	.	.	.	.	H	811	.	.	R	+	2	0	ATP11A	112560222	0.549000	0.26481	0.665000	0.29768	0.990000	0.78478	-0.190000	0.09615	-0.529000	0.06358	-0.165000	0.13383	CGC		0.493	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		11	58	0	0	0	1	0	11	58				
RABEP1	9135	broad.mit.edu	37	17	5241315	5241315	+	Splice_Site	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5241315C>G	ENST00000546142.2	+	5	717	c.530C>G	c.(529-531)gCc>gGc	p.A177G	RABEP1_ENST00000408982.2_Splice_Site_p.A177G|RABEP1_ENST00000537505.1_Splice_Site_p.A134G|RABEP1_ENST00000341923.6_Splice_Site_p.A177G|RABEP1_ENST00000262477.6_Splice_Site_p.A177G			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	177					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TAACCATAGGCCCAAGAGGAT	0.353																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e5-1		rabaptin, RAB GTPase binding effector protein 1							88.0	84.0	85.0					17																	5241315		1841	4105	5946	SO:0001630	splice_region_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5241315C>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.529-1C>G	17.37:g.5241315C>G						RABEP1_ENST00000537505.1_Splice_Site_p.A134_splice|RABEP1_ENST00000546142.2_Splice_Site_p.A177_splice|RABEP1_ENST00000341923.6_Splice_Site_p.A177_splice|RABEP1_ENST00000408982.2_Splice_Site_p.A177_splice	p.A177_splice	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			5	754	+			177					B2RAG7|O95369|Q8IVX3	Splice_Site	SNP	ENST00000546142.2	37	c.528_splice	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914822	0.92178	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.71341	-0.55;-0.52;-0.55;-0.52;-0.56	5.35	5.35	0.76521	Rabaptin coiled-coil domain (1);	0.048943	0.85682	D	0.000000	D	0.82990	0.5157	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;0.998	D;D;D;D;D;D	0.87578	0.996;0.998;0.996;0.998;0.994;0.994	T	0.79555	-0.1755	10	0.26408	T	0.33	-6.9359	18.4318	0.90628	0.0:1.0:0.0:0.0	.	134;134;177;177;177;177	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	G	177;177;177;177;177;134	ENSP00000262477:A177G;ENSP00000386150:A177G;ENSP00000437701:A177G;ENSP00000339569:A177G;ENSP00000445408:A134G	ENSP00000262477:A177G	A	+	2	0	RABEP1	5182039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.403000	0.79983	2.678000	0.91216	0.591000	0.81541	GCC		0.353	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	Missense_Mutation	32	45	0	0	0	1	0	32	45				
FAM64A	54478	broad.mit.edu	37	17	6350973	6350973	+	Missense_Mutation	SNP	G	G	A	rs369882202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:6350973G>A	ENST00000250056.8	+	3	568	c.485G>A	c.(484-486)cGc>cAc	p.R162H	FAM64A_ENST00000576056.1_Missense_Mutation_p.R162H|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193H|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162H|FAM64A_ENST00000572447.1_Missense_Mutation_p.R162H|FAM64A_ENST00000571373.1_Missense_Mutation_p.R162H	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	162					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GAGCATCACCGCCTCTCTGTC	0.652																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(484-486)cGc>cAc		family with sequence similarity 64, member A		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	26.0	27.0	27.0		485,485	0.4	0.0	17		27	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM64A	NM_019013.2,NM_001195228.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	162/239,162/249	6350973	1,13005	2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6350973G>A		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.485G>A	17.37:g.6350973G>A	ENSP00000250056:p.Arg162His					FAM64A_ENST00000571373.1_Missense_Mutation_p.R162H|FAM64A_ENST00000570337.2_Missense_Mutation_p.R162H|FAM64A_ENST00000572595.2_Missense_Mutation_p.R193H|FAM64A_ENST00000576056.1_Missense_Mutation_p.R162H|FAM64A_ENST00000250056.8_Missense_Mutation_p.R162H	p.R162H	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	594	+			162					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.485G>A	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	9.261	1.043285	0.19748	0.0	1.16E-4	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.58060	0.36	4.6	0.362	0.16113	.	0.921112	0.09194	N	0.835584	T	0.37705	0.1013	L	0.31294	0.92	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.004	T	0.26608	-1.0098	10	0.25751	T	0.34	-0.7354	8.6724	0.34159	0.2841:0.0:0.7159:0.0	.	162;162	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	H	162	ENSP00000250056:R162H	ENSP00000250056:R162H	R	+	2	0	FAM64A	6291697	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.138000	0.10374	0.273000	0.22049	-1.332000	0.01269	CGC		0.652	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		3	10	0	0	0	1	0	3	10				
BIRC6	57448	broad.mit.edu	37	2	32756565	32756565	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:32756565C>T	ENST00000421745.2	+	61	12372	c.12238C>T	c.(12238-12240)Ctg>Ttg	p.L4080L	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4080					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGGTGGACTGGCTCTTAT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(12238-12240)Ctg>Ttg		baculoviral IAP repeat containing 6							103.0	88.0	93.0					2																	32756565		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32756565C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12238C>T	2.37:g.32756565C>T							p.L4080L	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			61	12372	+	Acute lymphoblastic leukemia(172;0.155)		4080					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.12238C>T	CCDS33175.2																																																																																				0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	4	0	0	0	1	0	9	4				
RIMS2	9699	broad.mit.edu	37	8	105260949	105260949	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105260949G>A	ENST00000436393.2	+	25	3792	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R980H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1005H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R102H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1166H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1228					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGTGTTCGCTTGGCCTCT	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2938-2940)cGc>cAc		regulating synaptic membrane exocytosis 2							114.0	111.0	112.0					8																	105260949		2115	4257	6372	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105260949G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3551G>A	8.37:g.105260949G>A	ENSP00000390665:p.Arg1184His	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1005H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1184H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1166H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R102H	p.R980H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		19	3175	+			1228					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2939G>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.742547	0.89573	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21191	2.55;2.25;2.25;2.02;2.45;2.06;2.04	5.34	5.34	0.76211	.	.	.	.	.	T	0.45438	0.1342	L	0.58510	1.815	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.995;0.999;0.999	D;D;D;P;P	0.74674	0.976;0.984;0.951;0.871;0.871	T	0.34502	-0.9826	9	0.72032	D	0.01	.	19.4079	0.94655	0.0:0.0:1.0:0.0	.	1228;1184;1005;980;1166	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	1203;1166;1228;1005;980;1173;1184;102;102	ENSP00000384892:R1166H;ENSP00000262231:R1005H;ENSP00000423559:R980H;ENSP00000386228:R1173H;ENSP00000390665:R1184H;ENSP00000428478:R102H;ENSP00000342051:R102H	ENSP00000262231:R1005H	R	+	2	0	RIMS2	105330125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.809000	0.86057	2.664000	0.90586	0.650000	0.86243	CGC		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	39	0	0	0	1	0	34	39				
RNF6	6049	broad.mit.edu	37	13	26793670	26793670	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26793670G>T	ENST00000381588.4	-	3	869	c.117C>A	c.(115-117)gcC>gcA	p.A39A	RNF6_ENST00000381570.3_Silent_p.A39A|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Silent_p.A39A|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	39					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTGATAATAGGCCTCTTCTC	0.413																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(115-117)gcC>gcA		ring finger protein (C3H2C3 type) 6							164.0	155.0	158.0					13																	26793670		2203	4300	6503	SO:0001819	synonymous_variant	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26793670G>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.117C>A	13.37:g.26793670G>T						RNF6_ENST00000346166.3_Silent_p.A39A|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Silent_p.A39A|RNF6_ENST00000468480.1_5'UTR	p.A39A	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	3	869	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	39					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	ENST00000381588.4	37	c.117C>A	CCDS9316.1																																																																																				0.413	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		26	43	1	0	1.55469e-16	1	1.7083e-16	26	43				
IRAK3	11213	broad.mit.edu	37	12	66620608	66620608	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:66620608G>A	ENST00000261233.4	+	7	1180	c.759G>A	c.(757-759)ttG>ttA	p.L253L	IRAK3_ENST00000457197.2_Silent_p.L192L	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTGACAGATTGCAGTGTGTAG	0.428																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(757-759)ttG>ttA		interleukin-1 receptor-associated kinase 3							163.0	145.0	152.0					12																	66620608		2203	4300	6503	SO:0001819	synonymous_variant	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620608G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.759G>A	12.37:g.66620608G>A						IRAK3_ENST00000457197.2_Silent_p.L192L	p.L253L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	1180	+			253			Protein kinase.			Silent	SNP	ENST00000261233.4	37	c.759G>A	CCDS8975.1																																																																																				0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			10	23	0	0	0	1	0	10	23				
ZNF99	7652	broad.mit.edu	37	19	22940490	22940490	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22940490C>A	ENST00000596209.1	-	4	2311	c.2221G>T	c.(2221-2223)Gct>Tct	p.A741S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.A650S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1948-1950)Gct>Tct		zinc finger protein 99							25.0	26.0	26.0					19																	22940490		1874	3996	5870	SO:0001583	missense	7652							g.chr19:22940490C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2221G>T	19.37:g.22940490C>A	ENSP00000472969:p.Ala741Ser					ZNF99_ENST00000596209.1_Missense_Mutation_p.A741S	p.A650S							5	1947	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1948G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	9.841	1.191107	0.21954	.	.	ENSG00000213973	ENST00000397104	T	0.13420	2.59	0.726	-0.713	0.11223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.04260	-0.245	0.09310	N	1	D	0.62365	0.991	P	0.62491	0.903	T	0.28744	-1.0034	9	0.33940	T	0.23	.	6.1973	0.20557	0.472:0.528:0.0:0.0	.	650	A8MXY4	ZNF99_HUMAN	S	650	ENSP00000380293:A650S	ENSP00000380293:A650S	A	-	1	0	ZNF99	22732330	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	-0.992000	0.03724	-0.179000	0.10654	0.400000	0.26472	GCT		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		17	34	1	0	1.56452e-12	1	1.69366e-12	17	34				
ZSWIM3	140831	broad.mit.edu	37	20	44505430	44505430	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44505430C>T	ENST00000255152.2	+	2	442	c.233C>T	c.(232-234)gCg>gTg	p.A78V	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.A72V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	78							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGTGCCCAGCGTACTTGCTC	0.463																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(232-234)gCg>gTg		zinc finger, SWIM-type containing 3							119.0	106.0	111.0					20																	44505430		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505430C>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.233C>T	20.37:g.44505430C>T	ENSP00000255152:p.Ala78Val					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.A72V	p.A78V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	442	+		Myeloproliferative disorder(115;0.0122)	78					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.233C>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891381	0.52014	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.36878	1.3;1.23	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.51329	0.1668	L	0.34521	1.04	0.45962	D	0.998785	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.46048	-0.9219	10	0.48119	T	0.1	-15.7931	18.868	0.92301	0.0:1.0:0.0:0.0	.	72;78	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	V	78;72	ENSP00000255152:A78V;ENSP00000406313:A72V	ENSP00000255152:A78V	A	+	2	0	ZSWIM3	43938837	0.997000	0.39634	0.965000	0.40720	0.046000	0.14306	4.606000	0.61126	2.797000	0.96272	0.561000	0.74099	GCG		0.463	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		29	35	0	0	0	1	0	29	35				
THEMIS	387357	broad.mit.edu	37	6	128134372	128134372	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:128134372C>T	ENST00000368248.2	-	4	1562	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	THEMIS_ENST00000368250.1_Missense_Mutation_p.V393M|THEMIS_ENST00000543064.1_Missense_Mutation_p.V472M|THEMIS_ENST00000537166.1_Missense_Mutation_p.V437M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	472	CABIT 2.				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.V472L(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						GCAGCCAACACGTCCTCTTCA	0.483																																						ENST00000368250.1																			1	Substitution - Missense(1)	p.V472L(1)	lung(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						c.(1177-1179)Gtg>Atg		thymocyte selection associated							75.0	74.0	74.0					6																	128134372		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134372C>T	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.1414G>A	6.37:g.128134372C>T	ENSP00000357231:p.Val472Met					THEMIS_ENST00000537166.1_Missense_Mutation_p.V437M|THEMIS_ENST00000543064.1_Missense_Mutation_p.V472M|THEMIS_ENST00000368248.2_Missense_Mutation_p.V472M	p.V393M			Q8N1K5	THMS1_HUMAN			5	1675	-			472			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1177G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428873	0.25726	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.69	2.02	0.26589	.	0.368838	0.27802	N	0.017786	T	0.08626	0.0214	L	0.40543	1.245	0.22880	N	0.998617	D;D	0.61697	0.99;0.96	P;P	0.55112	0.769;0.543	T	0.11591	-1.0581	10	0.49607	T	0.09	-4.1061	8.9259	0.35641	0.0:0.309:0.0:0.691	.	472;472	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	393;472;472;437	ENSP00000357233:V393M;ENSP00000439594:V472M;ENSP00000357231:V472M;ENSP00000439863:V437M	ENSP00000357231:V472M	V	-	1	0	THEMIS	128176065	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	0.540000	0.23191	0.416000	0.25844	-0.471000	0.05019	GTG		0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		16	29	0	0	0	1	0	16	29				
FASTKD1	79675	broad.mit.edu	37	2	170428528	170428528	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170428528T>C	ENST00000453153.2	-	2	358	c.12A>G	c.(10-12)acA>acG	p.T4T	FASTKD1_ENST00000453929.2_Silent_p.T4T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	4					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GGAAAACAGGTGTTTTTTTCA	0.368																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(10-12)acA>acG		FAST kinase domains 1							39.0	40.0	40.0					2																	170428528		2199	4298	6497	SO:0001819	synonymous_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428528T>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.12A>G	2.37:g.170428528T>C						FASTKD1_ENST00000453929.2_Silent_p.T4T	p.T4T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	358	-			4					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	c.12A>G	CCDS33318.1																																																																																				0.368	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		30	34	0	0	0	1	0	30	34				
ZNF569	148266	broad.mit.edu	37	19	37905219	37905219	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37905219T>A	ENST00000316950.6	-	6	898	c.341A>T	c.(340-342)gAa>gTa	p.E114V	ZNF569_ENST00000592490.1_3'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E114V|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTTGACATTCATTGCCTTT	0.348																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(340-342)gAa>gTa		zinc finger protein 569							77.0	75.0	75.0					19																	37905219		2203	4298	6501	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37905219T>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.341A>T	19.37:g.37905219T>A	ENSP00000325018:p.Glu114Val					ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E114V|ZNF569_ENST00000592490.1_3'UTR	p.E114V	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	898	-			114					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.341A>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890917	0.33348	.	.	ENSG00000196437	ENST00000316950	T	0.08102	3.13	3.58	2.54	0.30619	.	0.237748	0.21711	N	0.070265	T	0.06962	0.0177	L	0.34521	1.04	0.19300	N	0.99997	B	0.20052	0.041	B	0.14023	0.01	T	0.28170	-1.0052	10	0.56958	D	0.05	.	8.9726	0.35917	0.0:0.0:0.3583:0.6417	.	114	Q5MCW4	ZN569_HUMAN	V	114	ENSP00000325018:E114V	ENSP00000325018:E114V	E	-	2	0	ZNF569	42597059	0.499000	0.26083	0.884000	0.34674	0.920000	0.55202	2.690000	0.47001	0.542000	0.28846	0.482000	0.46254	GAA		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		19	34	0	0	0	1	0	19	34				
SELPLG	6404	broad.mit.edu	37	12	109017668	109017668	+	Missense_Mutation	SNP	G	G	A	rs63748999|rs372173288|rs377406736	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109017668G>A	ENST00000550948.1	-	2	640	c.416C>T	c.(415-417)aCg>aTg	p.T139M	SELPLG_ENST00000388962.3_Intron|SELPLG_ENST00000228463.6_Missense_Mutation_p.T155M			Q14242	SELPL_HUMAN	selectin P ligand	139	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGTGCCTCCGTGGGCACTGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20407	0.001		0.0	False		,,,				2504	0.0					ENST00000550948.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(415-417)aCg>aTg		selectin P ligand		G	MET/THR,MET/THR	0,4406		0,0,2203	161.0	125.0	137.0		464,416	-1.3	0.0	12		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SELPLG	NM_001206609.1,NM_003006.4	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	155/429,139/413	109017668	1,13005	2203	4300	6503	SO:0001583	missense	0				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017668G>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.416C>T	12.37:g.109017668G>A	ENSP00000447752:p.Thr139Met					SELPLG_ENST00000228463.6_Missense_Mutation_p.T155M|SELPLG_ENST00000388962.3_Intron	p.T139M			Q14242	SELPL_HUMAN			2	640	-			139		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).	12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.416C>T	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198390	0.22037	0.0	1.16E-4	ENSG00000110876	ENST00000550948;ENST00000228463	T;T	0.15256	2.44;2.44	3.52	-1.28	0.09318	.	.	.	.	.	T	0.11281	0.0275	L	0.33485	1.01	0.09310	N	0.999993	D;D	0.61697	0.99;0.99	B;B	0.41412	0.356;0.356	T	0.21621	-1.0240	9	0.52906	T	0.07	1.6893	6.3822	0.21542	0.2022:0.2559:0.5418:0.0	.	155;139	B7Z5C7;Q14242	.;SELPL_HUMAN	M	139;155	ENSP00000447752:T139M;ENSP00000228463:T155M	ENSP00000228463:T155M	T	-	2	0	SELPLG	107541797	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.420000	0.07062	-0.266000	0.09339	-0.424000	0.05967	ACG		0.612	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			18	33	0	0	0	1	0	18	33				
KIF16B	55614	broad.mit.edu	37	20	16553918	16553918	+	Start_Codon_SNP	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16553918C>T	ENST00000354981.2	-	1	160	c.3G>A	c.(1-3)atG>atA	p.M1I	KIF16B_ENST00000355755.3_Start_Codon_SNP_p.M1I|KIF16B_ENST00000408042.1_Start_Codon_SNP_p.M1I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGACCGATGCCATCGCTCATC	0.731																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1-3)atG>atA		kinesin family member 16B							11.0	11.0	11.0					20																	16553918		2176	4260	6436	SO:0001582	initiator_codon_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16553918C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3G>A	20.37:g.16553918C>T	ENSP00000347076:p.Met1Ile					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Start_Codon_SNP_p.M1I|KIF16B_ENST00000355755.3_Start_Codon_SNP_p.M1I	p.M1I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			1	160	-			1			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Translation_Start_Site	SNP	ENST00000354981.2	37	c.3G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555043	0.96514	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.75704	-0.96;-0.9;-0.91	5.23	5.23	0.72850	Kinesin, motor domain (2);	0.045250	0.85682	D	0.000000	D	0.85270	0.5658	.	.	.	0.80722	D	1	P;P;P;P	0.52577	0.908;0.954;0.908;0.851	D;D;D;P	0.66351	0.922;0.943;0.922;0.838	D	0.86827	0.2008	9	0.87932	D	0	.	14.6598	0.68861	0.0:1.0:0.0:0.0	.	1;1;1;1	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	1	ENSP00000347076:M1I;ENSP00000347995:M1I;ENSP00000384164:M1I	ENSP00000347076:M1I	M	-	3	0	KIF16B	16501918	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.623000	0.54224	2.596000	0.87737	0.313000	0.20887	ATG		0.731	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Missense_Mutation	3	8	0	0	0	1	0	3	8				
RHBDF1	64285	broad.mit.edu	37	16	113790	113790	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:113790G>A	ENST00000262316.6	-	4	399	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A86V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	86					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAACCAGTCGGCGGTCCCCCT	0.662																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(256-258)gCc>gTc		rhomboid 5 homolog 1 (Drosophila)							55.0	50.0	52.0					16																	113790		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113790G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.257C>T	16.37:g.113790G>A	ENSP00000262316:p.Ala86Val					RHBDF1_ENST00000454039.2_Missense_Mutation_p.A86V	p.A86V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			4	399	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	86					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.257C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	33	5.286503	0.95517	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545;ENST00000419764	T;T;D	0.88896	0.33;-0.6;-2.44	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70935	0.971;0.958;0.947	D	0.94269	0.7509	10	0.87932	D	0	-13.0322	17.0997	0.86645	0.0:0.0:1.0:0.0	.	86;109;86	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	V	86;86;122;86;122;121	ENSP00000262316:A86V;ENSP00000392133:A86V;ENSP00000408915:A86V	ENSP00000262316:A86V	A	-	2	0	RHBDF1	53790	1.000000	0.71417	0.777000	0.31699	0.949000	0.60115	9.731000	0.98807	2.354000	0.79902	0.563000	0.77884	GCC		0.662	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		9	16	0	0	0	1	0	9	16				
OTOGL	283310	broad.mit.edu	37	12	80699368	80699368	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:80699368G>A	ENST00000547103.1	+	28	3205	c.3199G>A	c.(3199-3201)Gga>Aga	p.G1067R	OTOGL_ENST00000458043.2_Missense_Mutation_p.G1067R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1067	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGCTATCAGGATTGTGTGG	0.328																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3199-3201)Gga>Aga		otogelin-like							84.0	80.0	82.0					12																	80699368		1830	4081	5911	SO:0001583	missense	283310							g.chr12:80699368G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3199G>A	12.37:g.80699368G>A	ENSP00000447211:p.Gly1067Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.G1067R	p.G1067R	NM_173591.3	NP_775862.3					28	3205	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3199G>A		.	.	.	.	.	.	.	.	.	.	G	18.62	3.663610	0.67700	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.98732	-5.1;-5.1	5.89	5.89	0.94794	.	.	.	.	.	D	0.99495	0.9820	H	0.96398	3.815	0.80722	D	1	.	.	.	.	.	.	D	0.98346	1.0541	7	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	R	1067	ENSP00000447211:G1067R;ENSP00000400895:G1067R	ENSP00000400895:G1067R	G	+	1	0	OTOGL	79223499	1.000000	0.71417	0.960000	0.40013	0.220000	0.24768	8.947000	0.93000	2.783000	0.95769	0.655000	0.94253	GGA		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		6	9	0	0	0	1	0	6	9				
C7orf50	84310	broad.mit.edu	37	7	1049777	1049777	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:1049777G>A	ENST00000397098.3	-	3	1058	c.132C>T	c.(130-132)ggC>ggT	p.G44G	C7orf50_ENST00000397100.2_Silent_p.G44G|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.G44G			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	44							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GCACAGCTTCGCCCTGAAAGT	0.607																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(130-132)ggC>ggT		chromosome 7 open reading frame 50							51.0	47.0	49.0					7																	1049777		2199	4299	6498	SO:0001819	synonymous_variant	84310						protein binding	g.chr7:1049777G>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.132C>T	7.37:g.1049777G>A						C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.G44G|C7orf50_ENST00000397100.2_Silent_p.G44G	p.G44G			Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	3	1058	-		Ovarian(82;0.0779)	44						Silent	SNP	ENST00000397098.3	37	c.132C>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	t	9.163	1.019228	0.19355	.	.	ENSG00000146540	ENST00000412051	.	.	.	2.24	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	0.20873	N	0.999839	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1077	0.8481	0.01166	0.4204:0.1076:0.2669:0.2051	.	.	.	.	X	29	.	.	R	-	1	2	C7orf50	1016303	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.357000	0.01086	-2.568000	0.00469	-2.480000	0.00198	CGA		0.607	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		4	19	0	0	0	1	0	4	19				
BECN1	8678	broad.mit.edu	37	17	40962900	40962900	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40962900C>T	ENST00000361523.4	-	12	1363	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000438274.3_3'UTR|BECN1_ENST00000590099.1_Missense_Mutation_p.G411S	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	411					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GAATAGGAGCCGCCACTGCCT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(1231-1233)Ggc>Agc		beclin 1, autophagy related							77.0	71.0	73.0					17																	40962900		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40962900C>T	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1231G>A	17.37:g.40962900C>T	ENSP00000355231:p.Gly411Ser					BECN1_ENST00000438274.3_3'UTR|BECN1_ENST00000590099.1_Missense_Mutation_p.G411S|CNTD1_ENST00000315066.5_3'UTR	p.G411S	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	12	1363	-		Breast(137;0.00104)	411					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.1231G>A	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100193	0.56183	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.35421	1.31	6.02	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.51422	1.61	0.80722	D	1	P	0.47034	0.889	B	0.39503	0.301	T	0.14476	-1.0471	10	0.42905	T	0.14	.	15.3617	0.74483	0.0:0.9335:0.0:0.0665	.	411	Q14457	BECN1_HUMAN	S	411;324	ENSP00000355231:G411S	ENSP00000355231:G411S	G	-	1	0	BECN1	38216426	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.786000	0.85741	1.570000	0.49709	0.655000	0.94253	GGC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		28	37	0	0	0	1	0	28	37				
TLN1	7094	broad.mit.edu	37	9	35716542	35716542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35716542G>A	ENST00000314888.9	-	20	2823	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.R824*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	824				R -> G (in Ref. 1; AAD13152 and 2; AAF23322). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGCCTGTCGCACCATCTCC	0.582																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2470-2472)Cga>Tga		talin 1							80.0	74.0	76.0					9																	35716542		2203	4300	6503	SO:0001587	stop_gained	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716542G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2470C>T	9.37:g.35716542G>A	ENSP00000316029:p.Arg824*					TLN1_ENST00000540444.1_Nonsense_Mutation_p.R824*	p.R824*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2823	-	all_epithelial(49;0.167)		824	R -> G (in Ref. 1; AAD13152 and 2; AAF23322).				A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Nonsense_Mutation	SNP	ENST00000314888.9	37	c.2470C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	44	10.919267	0.99489	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7081	16.8149	0.85732	0.0:0.0:0.8702:0.1298	.	.	.	.	X	824	.	ENSP00000316029:R824X	R	-	1	2	TLN1	35706542	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	5.521000	0.67086	1.551000	0.49450	0.655000	0.94253	CGA		0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		27	43	0	0	0	1	0	27	43				
HSPA12A	259217	broad.mit.edu	37	10	118440697	118440697	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118440697C>T	ENST00000369209.3	-	9	1097	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	331						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGTGTCCCTCCGGTAACCGGA	0.488																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(991-993)ccG>ccA		heat shock 70kDa protein 12A							102.0	106.0	105.0					10																	118440697		2010	4173	6183	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118440697C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.993G>A	10.37:g.118440697C>T							p.P331P	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	9	1097	-			331						Silent	SNP	ENST00000369209.3	37	c.993G>A	CCDS41569.1																																																																																				0.488	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		29	37	0	0	0	1	0	29	37				
XPR1	9213	broad.mit.edu	37	1	180780559	180780559	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180780559C>T	ENST00000367590.4	+	7	896	c.698C>T	c.(697-699)aCt>aTt	p.T233I	XPR1_ENST00000367589.3_Missense_Mutation_p.T233I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCAGCATGGACTACTTTTAGA	0.323																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(697-699)aCt>aTt		xenotropic and polytropic retrovirus receptor 1							148.0	132.0	138.0					1																	180780559		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180780559C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.698C>T	1.37:g.180780559C>T	ENSP00000356562:p.Thr233Ile					XPR1_ENST00000367589.3_Missense_Mutation_p.T233I	p.T233I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			7	896	+			233					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.698C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221638	0.58560	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45668	0.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.45285	1.41	0.80722	D	1	B;B	0.31209	0.313;0.188	B;B	0.42692	0.395;0.074	T	0.35599	-0.9782	10	0.33940	T	0.23	-13.8766	19.1407	0.93445	0.0:1.0:0.0:0.0	.	233;233	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	I	233	ENSP00000356562:T233I	ENSP00000356561:T233I	T	+	2	0	XPR1	179047182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.223000	0.78033	2.673000	0.90976	0.655000	0.94253	ACT		0.323	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		6	91	0	0	0	1	0	6	91				
SYNGR3	9143	broad.mit.edu	37	16	2042693	2042693	+	Missense_Mutation	SNP	C	C	T	rs575680811		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2042693C>T	ENST00000248121.2	+	3	552	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	SYNGR3_ENST00000562045.1_Silent_p.S43S	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	132	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						TCAGTGGCAGCGCACGGCGCC	0.706																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(394-396)Cgc>Tgc		synaptogyrin 3							27.0	25.0	25.0					16																	2042693		2193	4294	6487	SO:0001583	missense	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042693C>T	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.394C>T	16.37:g.2042693C>T	ENSP00000248121:p.Arg132Cys					SYNGR3_ENST00000562045.1_Silent_p.S43S	p.R132C	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			3	552	+			132			MARVEL.		B2R9S0	Missense_Mutation	SNP	ENST00000248121.2	37	c.394C>T	CCDS10456.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658287	0.47467	.	.	ENSG00000127561	ENST00000248121	T	0.26067	1.76	3.91	2.93	0.34026	Marvel (1);MARVEL-like domain (1);	0.298226	0.30302	N	0.009921	T	0.37865	0.1019	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.09840	-1.0656	10	0.52906	T	0.07	.	7.6721	0.28465	0.3088:0.5358:0.1554:0.0	.	132	O43761	SNG3_HUMAN	C	132	ENSP00000248121:R132C	ENSP00000248121:R132C	R	+	1	0	SYNGR3	1982694	0.998000	0.40836	0.997000	0.53966	0.882000	0.50991	1.050000	0.30404	0.834000	0.34852	0.306000	0.20318	CGC		0.706	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			7	12	0	0	0	1	0	7	12				
CCDC130	81576	broad.mit.edu	37	19	13873818	13873818	+	Missense_Mutation	SNP	C	C	T	rs149179548		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13873818C>T	ENST00000586600.1	+	11	1630	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.T376M|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	376					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			ACCCCCGACACGCGGCACCCC	0.682																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1126-1128)aCg>aTg		coiled-coil domain containing 130							14.0	17.0	16.0					19																	13873818		2193	4291	6484	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873818C>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.1127C>T	19.37:g.13873818C>T	ENSP00000465776:p.Thr376Met					CCDC130_ENST00000221554.8_Missense_Mutation_p.T376M	p.T376M			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1630	+			376					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.1127C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923346	0.33908	.	.	ENSG00000104957	ENST00000221554	T	0.32988	1.43	4.46	-0.135	0.13477	.	1.123250	0.07141	N	0.847246	T	0.21427	0.0516	L	0.44542	1.39	0.09310	N	0.999999	P;P	0.43412	0.806;0.806	B;B	0.31547	0.132;0.132	T	0.23619	-1.0183	10	0.62326	D	0.03	-4.0275	7.8023	0.29180	0.0:0.6207:0.0:0.3793	.	376;376	B3KUZ1;P13994	.;CC130_HUMAN	M	376	ENSP00000221554:T376M	ENSP00000221554:T376M	T	+	2	0	CCDC130	13734818	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.227000	0.09126	-0.004000	0.14419	0.491000	0.48974	ACG		0.682	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		13	11	0	0	0	1	0	13	11				
ANKRD52	283373	broad.mit.edu	37	12	56648679	56648679	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56648679G>A	ENST00000267116.7	-	6	641	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	174										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGAGGCTGCCGCTCCTTTTTG	0.493																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(520-522)Cgg>Tgg		ankyrin repeat domain 52							75.0	75.0	75.0					12																	56648679		1893	4117	6010	SO:0001583	missense	283373						protein binding	g.chr12:56648679G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.520C>T	12.37:g.56648679G>A	ENSP00000267116:p.Arg174Trp						p.R174W	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			6	641	-			174					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.520C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166241	0.78339	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66638	-0.22	4.75	4.75	0.60458	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.42581	1.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.70753	-0.4786	10	0.34782	T	0.22	.	12.708	0.57073	0.0:0.0:0.8346:0.1653	.	174	Q8NB46	ANR52_HUMAN	W	174	ENSP00000267116:R174W	ENSP00000267116:R174W	R	-	1	2	ANKRD52	54934946	0.393000	0.25237	1.000000	0.80357	0.998000	0.95712	0.591000	0.23969	2.632000	0.89209	0.655000	0.94253	CGG		0.493	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		32	38	0	0	0	1	0	32	38				
KHNYN	23351	broad.mit.edu	37	14	24909614	24909614	+	3'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24909614C>T	ENST00000251343.5	+	0	5299				SDR39U1_ENST00000538105.2_Missense_Mutation_p.G104D|SDR39U1_ENST00000554698.1_Missense_Mutation_p.G78D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.G91D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000553930.1_Missense_Mutation_p.G61D|SDR39U1_ENST00000555365.1_Missense_Mutation_p.G19D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.G186D			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAATTGGTGGCCTGAGCCGAT	0.637																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(232-234)gGc>gAc		short chain dehydrogenase/reductase family 39U, member 1							21.0	24.0	23.0					14																	24909614		1923	4139	6062	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909614C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*3123C>T	14.37:g.24909614C>T						KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.G186D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000538105.2_Missense_Mutation_p.G104D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.G91D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.G61D|SDR39U1_ENST00000555365.1_Missense_Mutation_p.G19D	p.G78D			Q9NRG7	D39U1_HUMAN			4	740	-			212					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.233G>A	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.741003|4.741003	0.89573|0.89573	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000556249|ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355;ENST00000556523	.|D;T;T;T;T;T;T;T;T;T	.|0.97089	.|-4.24;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.9|4.9	4.9|4.9	0.64082|0.64082	.|NAD(P)-binding domain (1);	.|0.055023	.|0.64402	.|N	.|0.000001	D|D	0.99108|0.99108	0.9693|0.9693	H|H	0.98466|0.98466	4.24|4.24	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.98871|0.98871	1.0766|1.0766	5|10	.|0.87932	.|D	.|0	-17.4798|-17.4798	15.607|15.607	0.76682|0.76682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|61;186;212;104;78	.|G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5	.|.;.;D39U1_HUMAN;.;.	T|D	109|186;212;91;61;104;78;19;80;19;61;19	.|ENSP00000382327:G186D;ENSP00000382322:G91D;ENSP00000452499:G61D;ENSP00000446077:G104D;ENSP00000452438:G78D;ENSP00000451903:G19D;ENSP00000452076:G80D;ENSP00000451593:G19D;ENSP00000450946:G61D;ENSP00000451275:G19D	.|ENSP00000336854:G212D	A|G	-|-	1|2	0|0	SDR39U1|SDR39U1	23979454|23979454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.149000|7.149000	0.77396|0.77396	2.543000|2.543000	0.85770|0.85770	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			6	12	0	0	0	1	0	6	12				
AC010731.3	0	broad.mit.edu	37	2	207508964	207508964	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:207508964G>A	ENST00000415029.1	+	0	1132				AC010731.4_ENST00000543490.1_lincRNA																							TAGGGCCATGGCTGATCCTGG	0.483																																						ENST00000543490.1																			0																				45.0	47.0	47.0					2																	207508964		1993	4142	6135			0							g.chr2:207508964G>A																													2.37:g.207508964G>A														0	179	+									RNA	SNP	ENST00000415029.1	37																																																																																						0.483	AC010731.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000336805.1			7	12	0	0	0	1	0	7	12				
IL7R	3575	broad.mit.edu	37	5	35876342	35876342	+	Silent	SNP	C	C	T	rs150593442	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:35876342C>T	ENST00000303115.3	+	8	1263	c.1134C>T	c.(1132-1134)gaC>gaT	p.D378D	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	378					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTGCATGTGACGCCCCTATTC	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1132-1134)gaC>gaT		interleukin 7 receptor		C		1,4405	2.1+/-5.4	0,1,2202	100.0	90.0	94.0		1134	-3.1	0.0	5	dbSNP_134	94	0,8600		0,0,4300	yes	coding-synonymous	IL7R	NM_002185.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		378/460	35876342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876342C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1134C>T	5.37:g.35876342C>T						IL7R_ENST00000343305.4_3'UTR	p.D378D	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1263	+	all_lung(31;0.00015)		378					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1134C>T	CCDS3911.1																																																																																				0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			23	29	0	0	0	1	0	23	29				
FIZ1	84922	broad.mit.edu	37	19	56109064	56109064	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56109064G>A	ENST00000221665.3	-	2	257	c.168C>T	c.(166-168)tgC>tgT	p.C56C	ZNF524_ENST00000301073.3_5'Flank|FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	56					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AACCCTTGCCGCAGCGCGGAC	0.657																																						ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(166-168)tgC>tgT		FLT3-interacting zinc finger 1							62.0	56.0	58.0					19																	56109064		2203	4300	6503	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109064G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.168C>T	19.37:g.56109064G>A						FIZ1_ENST00000592585.1_Intron	p.C56C	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	257	-			56					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.168C>T	CCDS12928.1																																																																																				0.657	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		24	30	0	0	0	1	0	24	30				
TM9SF1	10548	broad.mit.edu	37	14	24658773	24658773	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24658773G>A	ENST00000261789.4	-	6	2027	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	IPO4_ENST00000354464.6_5'Flank|RP11-468E2.2_ENST00000561419.1_Silent_p.G93G|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R540C|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R470C|TM9SF1_ENST00000556387.1_Missense_Mutation_p.R766C|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R766C	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	557					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATGTTGGAGCGCCGGGCATAA	0.522																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(2296-2298)Cgc>Tgc		transmembrane 9 superfamily member 1							72.0	76.0	75.0					14																	24658773		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24658773G>A	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1669C>T	14.37:g.24658773G>A	ENSP00000261789:p.Arg557Cys					RP11-468E2.2_ENST00000561419.1_Silent_p.G93G|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R540C|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R766C|TM9SF1_ENST00000261789.4_Missense_Mutation_p.R557C|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R470C	p.R766C			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	10	2329	-			557					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.2296C>T	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134861|5.134861	0.94517|0.94517	.|.	.|.	ENSG00000100926|ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000532632|ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611	T|T;T;T;T;T	0.53423|0.46063	0.62|0.88;0.88;0.88;0.88;0.88	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73713|0.73713	0.3622|0.3622	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.72625	.|0.978	T|T	0.78899|0.78899	-0.2022|-0.2022	7|10	0.87932|0.87932	D|D	0|0	-13.7282|-13.7282	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|557	.|O15321	.|TM9S1_HUMAN	V|C	124|557;540;766;470;766	ENSP00000436486:A124V|ENSP00000261789:R557C;ENSP00000432997:R540C;ENSP00000451949:R766C;ENSP00000434387:R470C;ENSP00000433967:R766C	ENSP00000436486:A124V|ENSP00000433967:R766C	A|R	-|-	2|1	0|0	TM9SF1|TM9SF1;RP11-468E2.1	23728613|23728613	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	8.241000|8.241000	0.89816|0.89816	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		12	26	0	0	0	1	0	12	26				
IGKV2D-29	28882	broad.mit.edu	37	2	89986855	89986855	+	RNA	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:89986855A>T	ENST00000491977.1	+	0	166									immunoglobulin kappa variable 2D-29																		CTGCAAGTCTAGTCAGAGCCT	0.517																																						ENST00000491977.1																			0																				27.0	31.0	30.0					2																	89986855		1804	4067	5871			0							g.chr2:89986855A>T	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89986855A>T														0	166	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.517	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		21	13	0	0	0	1	0	21	13				
ALDH4A1	8659	broad.mit.edu	37	1	19204062	19204062	+	Missense_Mutation	SNP	C	C	T	rs144311914		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:19204062C>T	ENST00000375341.3	-	10	1242	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V329M|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V329M|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V269M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	329					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTCTCCACGTCGGCCGAG	0.667																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(985-987)Gtg>Atg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)	C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	30.0	30.0	30.0		805,985,985	4.7	1.0	1	dbSNP_134	30	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	269/504,329/564,329/564	19204062	1,13005	2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19204062C>T	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.985G>A	1.37:g.19204062C>T	ENSP00000364490:p.Val329Met					RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V269M|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V329M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V329M	p.V329M	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1242	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	329					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.985G>A	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665245	0.47677	0.0	1.16E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.66	4.66	0.58398	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.137758	0.48286	D	0.000195	T	0.78935	0.4362	M	0.83692	2.655	0.80722	D	1	P	0.51791	0.948	B	0.39379	0.298	D	0.84661	0.0706	10	0.72032	D	0.01	-29.0447	16.1125	0.81273	0.0:1.0:0.0:0.0	.	329	P30038	AL4A1_HUMAN	M	329;329;329;269	ENSP00000290597:V329M;ENSP00000364490:V329M;ENSP00000446071:V329M;ENSP00000442988:V269M	ENSP00000290597:V329M	V	-	1	0	ALDH4A1	19076649	1.000000	0.71417	0.986000	0.45419	0.083000	0.17756	4.400000	0.59709	2.153000	0.67306	0.561000	0.74099	GTG		0.667	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			4	10	0	0	0	1	0	4	10				
SUPT5H	6829	broad.mit.edu	37	19	39963546	39963546	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39963546G>A	ENST00000599117.1	+	23	2499	c.2132G>A	c.(2131-2133)cGc>cAc	p.R711H	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R707H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R711H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R707H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R711H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	711	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGACCGTGCGCATCTCCCAG	0.692																																						ENST00000599117.1																			1	Substitution - Missense(1)	p.R711H(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2131-2133)cGc>cAc		suppressor of Ty 5 homolog (S. cerevisiae)							44.0	45.0	45.0					19																	39963546		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963546G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2132G>A	19.37:g.39963546G>A	ENSP00000470252:p.Arg711His					SUPT5H_ENST00000432763.2_Missense_Mutation_p.R711H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R711H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R707H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R707H	p.R711H			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2499	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		711			KOW 5.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2132G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019380	0.93462	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.9	4.9	0.64082	KOW (2);	0.053606	0.64402	D	0.000001	T	0.74635	0.3742	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74348	0.932;0.983;0.961;0.969	T	0.74241	-0.3729	8	.	.	.	-15.5295	16.8478	0.85985	0.0:0.0:1.0:0.0	.	689;503;707;711	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	H	711;707;689;711	.	.	R	+	2	0	SUPT5H	44655386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.237000	0.95368	2.263000	0.75096	0.557000	0.71058	CGC		0.692	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		11	13	0	0	0	1	0	11	13				
CSNK2B	1460	broad.mit.edu	37	6	31637620	31637620	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31637620G>A	ENST00000375882.2	+	7	721	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	CSNK2B_ENST00000375866.2_Missense_Mutation_p.G189S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.G208S|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G189S	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	189	Interaction with alpha subunit. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TAGGCTCTACGGTTTCAAGAT	0.612																																						ENST00000375885.4																			0				central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						c.(622-624)Ggt>Agt		casein kinase 2, beta polypeptide							112.0	81.0	92.0					6																	31637620		1511	2709	4220	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637620G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.565G>A	6.37:g.31637620G>A	ENSP00000365042:p.Gly189Ser					CSNK2B_ENST00000375866.2_Missense_Mutation_p.G189S|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G189S|CSNK2B_ENST00000375882.2_Missense_Mutation_p.G189S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron	p.G208S			P67870	CSK2B_HUMAN			7	834	+			189					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.622G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442708	0.83993	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375865;ENST00000375866	.	.	.	5.4	4.54	0.55810	.	0.160108	0.56097	N	0.000039	T	0.80571	0.4648	H	0.95365	3.66	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.86597	0.1864	8	0.72032	D	0.01	-3.4467	11.9911	0.53176	0.0831:0.0:0.9169:0.0	.	189	P67870	CSK2B_HUMAN	S	208;189;189;189	.	ENSP00000365025:G189S	G	+	1	0	CSNK2B	31745599	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.404000	0.90210	1.526000	0.49068	0.563000	0.77884	GGT		0.612	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		16	25	0	0	0	1	0	16	25				
IL18RAP	8807	broad.mit.edu	37	2	103053706	103053706	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103053706G>A	ENST00000264260.2	+	6	1203	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R63Q|AC007278.2_ENST00000436582.1_RNA|AC007278.3_ENST00000450893.1_RNA	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	205	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGAGCAACCGAATCGTAGTG	0.383																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(613-615)cGa>cAa		interleukin 18 receptor accessory protein							124.0	104.0	111.0					2																	103053706		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103053706G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.614G>A	2.37:g.103053706G>A	ENSP00000264260:p.Arg205Gln					IL18RAP_ENST00000409369.1_Missense_Mutation_p.R63Q	p.R205Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			6	1203	+			205			Ig-like C2-type 1.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.614G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547621	0.13312	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.77620	-1.11;-1.11	5.82	-0.759	0.11045	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.007360	0.07967	N	0.983328	T	0.49012	0.1532	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.36187	-0.9758	10	0.15499	T	0.54	.	3.9786	0.09486	0.2601:0.2678:0.3928:0.0793	.	205	O95256	I18RA_HUMAN	Q	205;63	ENSP00000264260:R205Q;ENSP00000387201:R63Q	ENSP00000264260:R205Q	R	+	2	0	IL18RAP	102420138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	0.369000	0.24510	-1.468000	0.01013	CGA		0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		18	43	0	0	0	1	0	18	43				
GPD2	2820	broad.mit.edu	37	2	157425436	157425436	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:157425436T>G	ENST00000310454.6	+	10	1637	c.1265T>G	c.(1264-1266)gTt>gGt	p.V422G	GPD2_ENST00000438166.2_Missense_Mutation_p.V422G|GPD2_ENST00000409674.1_Missense_Mutation_p.V422G|GPD2_ENST00000409125.4_Missense_Mutation_p.V195G|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	422					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATCATGTTGTTGATATCAGT	0.408																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(1264-1266)gTt>gGt		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							238.0	221.0	227.0					2																	157425436		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157425436T>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1265T>G	2.37:g.157425436T>G	ENSP00000308610:p.Val422Gly					GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.V195G|GPD2_ENST00000409674.1_Missense_Mutation_p.V422G|GPD2_ENST00000438166.2_Missense_Mutation_p.V422G	p.V422G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			10	1637	+			422					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1265T>G	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773735	0.90108	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.68	5.68	0.88126	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	H	0.97051	3.93	0.80722	D	1	D	0.63046	0.992	D	0.77557	0.99	D	0.96671	0.9496	10	0.87932	D	0	.	15.9431	0.79773	0.0:0.0:0.0:1.0	.	422	P43304	GPDM_HUMAN	G	422;195;422;422	ENSP00000308610:V422G;ENSP00000386484:V195G;ENSP00000409708:V422G;ENSP00000386425:V422G	ENSP00000308610:V422G	V	+	2	0	GPD2	157133682	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	8.040000	0.89188	2.176000	0.68965	0.477000	0.44152	GTT		0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			57	102	0	0	0	1	0	57	102				
LRRC74A	145497	broad.mit.edu	37	14	77297581	77297581	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77297581C>T	ENST00000393774.3	+	3	377	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	C14orf166B_ENST00000450042.2_Silent_p.L68L|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACAAAAGGAGCTGTACCTGGA	0.522																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(253-255)Ctg>Ttg		chromosome 14 open reading frame 166B							109.0	94.0	99.0					14																	77297581		2203	4300	6503	SO:0001819	synonymous_variant	145497							g.chr14:77297581C>T																												ENST00000393774.3:c.253C>T	14.37:g.77297581C>T						C14orf166B_ENST00000450042.2_Silent_p.L68L|C14orf166B_ENST00000460005.1_3'UTR	p.L85L	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	3	377	+			85						Silent	SNP	ENST00000393774.3	37	c.253C>T	CCDS9853.2																																																																																				0.522	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			13	23	0	0	0	1	0	13	23				
ZAN	7455	broad.mit.edu	37	7	100367552	100367552	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100367552G>A	ENST00000348028.3	+	0	5368				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAACAGCATGGCAGACGCCTG	0.542																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							88.0	87.0	88.0					7																	100367552		1922	4120	6042			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100367552G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100367552G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5351	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	12.06	1.823883	0.32237	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.24350	2.4;2.39;2.38;1.86	3.5	-1.95	0.07548	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	1.023590	0.07854	N	0.965175	T	0.13372	0.0324	N	0.17674	0.51	0.09310	N	1	B;B	0.21520	0.046;0.057	B;B	0.18561	0.013;0.022	T	0.29671	-1.0004	10	0.36615	T	0.2	.	3.5451	0.07826	0.4668:0.0:0.3527:0.1805	.	1735;1735	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	1735;1735;1735;312	ENSP00000445943:A1735T;ENSP00000445091:A1735T;ENSP00000444427:A1735T;ENSP00000441117:A312T	ENSP00000423579:A1735T	A	+	1	0	ZAN	100205488	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.251000	0.08818	-0.440000	0.07211	-0.291000	0.09656	GCA		0.542	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	1	0	0	0	1	0	2	1				
GPS2	2874	broad.mit.edu	37	17	7216091	7216091	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7216091C>T	ENST00000380728.2	-	11	1268	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GPS2_ENST00000389167.5_Missense_Mutation_p.R323Q|GPS2_ENST00000391950.3_Intron|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	323					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGTAGAATCGCGGGTTCTG	0.552																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(967-969)cGa>cAa		G protein pathway suppressor 2							194.0	198.0	197.0					17																	7216091		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216091C>T	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.968G>A	17.37:g.7216091C>T	ENSP00000370104:p.Arg323Gln					GPS2_ENST00000389167.5_Missense_Mutation_p.R323Q|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Intron	p.R323Q			Q13227	GPS2_HUMAN			11	1268	-		Prostate(122;0.157)	323					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.968G>A	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528924	0.64860	.	.	ENSG00000132522	ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.58060	0.36;0.36	4.75	4.75	0.60458	.	0.000000	0.64402	U	0.000003	T	0.61148	0.2324	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	T	0.66139	-0.5998	10	0.87932	D	0	-1.4182	16.6908	0.85321	0.0:1.0:0.0:0.0	.	323	Q13227	GPS2_HUMAN	Q	323	ENSP00000370104:R323Q;ENSP00000379841:R323Q	ENSP00000319371:R323Q	R	-	2	0	GPS2	7156815	0.733000	0.28132	0.096000	0.21009	0.991000	0.79684	4.898000	0.63238	2.467000	0.83353	0.650000	0.86243	CGA		0.552	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		13	75	0	0	0	1	0	13	75				
SREK1	140890	broad.mit.edu	37	5	65474638	65474638	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:65474638A>G	ENST00000380918.3	+	13	2129	c.1469A>G	c.(1468-1470)cAc>cGc	p.H490R	SREK1_ENST00000334121.6_Missense_Mutation_p.H606R|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	490					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAATACAGCACAATGGGAAT	0.413																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(1816-1818)cAc>cGc		splicing regulatory glutamine/lysine-rich protein 1							147.0	126.0	133.0					5																	65474638		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65474638A>G	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1469A>G	5.37:g.65474638A>G	ENSP00000370305:p.His490Arg					SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.H490R	p.H606R	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			12	1976	+			490					A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.1817A>G	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680177	0.29872	.	.	ENSG00000153914	ENST00000334121;ENST00000380918	T;T	0.40756	1.02;1.02	4.71	4.71	0.59529	.	0.777662	0.12004	N	0.508506	T	0.38348	0.1037	N	0.19112	0.55	0.31034	N	0.717126	P;P	0.47253	0.61;0.892	B;P	0.50440	0.345;0.641	T	0.12734	-1.0536	10	0.15066	T	0.55	.	14.3522	0.66711	1.0:0.0:0.0:0.0	.	490;606	Q8WXA9;Q8WXA9-2	SREK1_HUMAN;.	R	606;490	ENSP00000334538:H606R;ENSP00000370305:H490R	ENSP00000334538:H606R	H	+	2	0	SREK1	65510394	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	6.087000	0.71362	1.975000	0.57531	0.533000	0.62120	CAC		0.413	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		16	16	0	0	0	1	0	16	16				
LOC151174	151174	broad.mit.edu	37	2	239141089	239141089	+	5'Flank	SNP	G	G	A	rs188572238	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239141089G>A	ENST00000409070.1	-	0	0				AC016757.3_ENST00000409942.1_5'Flank|AC016757.3_ENST00000409376.1_5'Flank|AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC096574.4_ENST00000456601.1_RNA																							ATCAGATTGCGCGGTCTCTTT	0.488													G|||	11	0.00219649	0.0	0.0	5008	,	,		20070	0.0109		0.0	False		,,,				2504	0.0					ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:239141089G>A																													2.37:g.239141089G>A	Exception_encountered													0	765	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.488	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			13	41	0	0	0	1	0	13	41				
TRAV34	28648	broad.mit.edu	37	14	22676003	22676003	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22676003C>T	ENST00000390461.2	+	0	327									T cell receptor alpha variable 34																		GCCATGCAGGCATCTACCTCT	0.522																																						ENST00000390461.2																			0																				57.0	62.0	60.0					14																	22676003		1984	4165	6149			0							g.chr14:22676003C>T	AE000660		14q11.2	2012-02-07			ENSG00000211813	ENSG00000211813		"""T cell receptors / TRA locus"""	12133	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV26S1, TCRAV34S1			OTTHUMG00000170664		14.37:g.22676003C>T														0	327	+									RNA	SNP	ENST00000390461.2	37																																																																																						0.522	TRAV34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409912.1	NG_001332		18	13	0	0	0	1	0	18	13				
PPCS	79717	broad.mit.edu	37	1	42922450	42922450	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:42922450G>A	ENST00000372561.3	+	1	221	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	PPCS_ENST00000372562.1_Intron|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Missense_Mutation_p.A72T|PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	72					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCGGCCGAGGCCTTCCTAGC	0.672																																						ENST00000372561.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(214-216)Gcc>Acc		phosphopantothenoylcysteine synthetase							59.0	67.0	64.0					1																	42922450		1864	4045	5909	SO:0001583	missense	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42922450G>A	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.214G>A	1.37:g.42922450G>A	ENSP00000361642:p.Ala72Thr					PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.A72T|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron	p.A72T	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN			1	221	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	72					Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	c.214G>A	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020680	0.54576	.	.	ENSG00000127125	ENST00000372560;ENST00000372561	.	.	.	5.83	4.74	0.60224	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.484322	0.25625	N	0.029382	T	0.46268	0.1384	L	0.42008	1.315	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	T	0.36407	-0.9749	9	0.27785	T	0.31	-1.0227	7.6397	0.28286	0.0928:0.0:0.7398:0.1674	.	72	Q9HAB8	PPCS_HUMAN	T	72	.	ENSP00000361641:A72T	A	+	1	0	PPCS	42695037	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.813000	0.38962	2.764000	0.94973	0.557000	0.71058	GCC		0.672	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		49	73	0	0	0	1	0	49	73				
GPATCH2L	55668	broad.mit.edu	37	14	76647149	76647149	+	Missense_Mutation	SNP	G	G	A	rs376476893		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76647149G>A	ENST00000261530.7	+	8	1216	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	GPATCH2L_ENST00000553588.1_Silent_p.P4P|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D379N	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	384																	TGTTCTTGCCGATGCTTCTCA	0.433																																						ENST00000261530.7																			0											c.(1150-1152)Gat>Aat		G patch domain containing 2-like		G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	262.0	226.0	238.0		1150,1135	5.8	1.0	14		238	0,8600		0,0,4300	no	missense,missense	C14orf118	NM_017926.2,NM_017972.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	384/483,379/478	76647149	1,13005	2203	4300	6503	SO:0001583	missense	55668							g.chr14:76647149G>A	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1150G>A	14.37:g.76647149G>A	ENSP00000261530:p.Asp384Asn					GPATCH2L_ENST00000553588.1_Silent_p.P4P|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D379N	p.D384N	NM_017926.2	NP_060396.2					8	1216	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.1150G>A	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694340	0.68386	2.27E-4	0.0	ENSG00000089916	ENST00000312858;ENST00000261530	T;T	0.55588	0.51;0.51	5.79	5.79	0.91817	.	0.538493	0.19960	N	0.102235	T	0.68412	0.2998	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.963	T	0.68872	-0.5294	10	0.87932	D	0	-25.3785	18.2217	0.89904	0.0:0.0:1.0:0.0	.	379;384	Q9NWQ4-4;Q9NWQ4	.;CN118_HUMAN	N	379;384	ENSP00000323775:D379N;ENSP00000261530:D384N	ENSP00000261530:D384N	D	+	1	0	C14orf118	75716902	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	6.488000	0.73637	2.739000	0.93911	0.655000	0.94253	GAT		0.433	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		59	90	0	0	0	1	0	59	90				
MFAP1	4236	broad.mit.edu	37	15	44101970	44101970	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44101970G>A	ENST00000267812.3	-	7	1262	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	344					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AAGGCACCCCGGTGATAATAC	0.398																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(1030-1032)Cgg>Tgg		microfibrillar-associated protein 1							191.0	189.0	189.0					15																	44101970		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44101970G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1030C>T	15.37:g.44101970G>A	ENSP00000267812:p.Arg344Trp						p.R344W	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	7	1262	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	344					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.1030C>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509279	0.64522	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.65	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86910	0.2060	9	0.87932	D	0	-7.4672	12.8155	0.57663	0.0:0.0:0.5707:0.4293	.	344	P55081	MFAP1_HUMAN	W	344	.	ENSP00000267812:R344W	R	-	1	2	MFAP1	41889262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.746000	0.55127	0.904000	0.36572	-0.152000	0.13540	CGG		0.398	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		54	89	0	0	0	1	0	54	89				
KIF13A	63971	broad.mit.edu	37	6	17837806	17837806	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17837806G>A	ENST00000259711.6	-	10	944	c.839C>T	c.(838-840)aCa>aTa	p.T280I	KIF13A_ENST00000378816.5_Missense_Mutation_p.T280I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378826.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378814.5_Missense_Mutation_p.T280I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	280	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCCCAAGGTTGTAAGCGATCT	0.373																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(838-840)aCa>aTa		kinesin family member 13A							60.0	51.0	53.0					6																	17837806		1852	4083	5935	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837806G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.839C>T	6.37:g.17837806G>A	ENSP00000259711:p.Thr280Ile					KIF13A_ENST00000378843.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378826.2_Missense_Mutation_p.T280I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T280I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T280I	p.T280I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		10	838	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	280					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.839C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433536	0.83776	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.64	5.64	0.86602	Kinesin, motor domain (3);	0.117930	0.56097	D	0.000030	D	0.88533	0.6462	M	0.92317	3.295	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.979;0.977;0.985	P;P;D;P	0.66602	0.897;0.653;0.945;0.552	D	0.90201	0.4257	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	280;280;280;280	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	280	ENSP00000368091:T280I;ENSP00000259711:T280I;ENSP00000368103:T280I;ENSP00000368120:T280I;ENSP00000368093:T280I	ENSP00000259711:T280I	T	-	2	0	KIF13A	17945785	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.895000	0.87343	2.812000	0.96745	0.557000	0.71058	ACA		0.373	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	8	0	0	0	1	0	6	8				
ZNF671	79891	broad.mit.edu	37	19	58232531	58232531	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58232531G>A	ENST00000317398.6	-	4	1018	c.923C>T	c.(922-924)aCt>aTt	p.T308I	ZNF671_ENST00000335820.3_Missense_Mutation_p.T210I|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTTTCTCCAGTGTGGATTCT	0.483																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(922-924)aCt>aTt		zinc finger protein 671							96.0	91.0	92.0					19																	58232531		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232531G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.923C>T	19.37:g.58232531G>A	ENSP00000321848:p.Thr308Ile					AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.T210I	p.T308I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1018	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	308					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.923C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825859	0.50739	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.25749	1.78;1.78	1.94	0.786	0.18590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40222	0.1108	M	0.80422	2.495	0.22156	N	0.999324	D	0.58620	0.983	P	0.53593	0.73	T	0.21724	-1.0237	9	0.72032	D	0.01	.	7.5952	0.28044	0.0:0.529:0.471:0.0	.	308	Q8TAW3	ZN671_HUMAN	I	308;210	ENSP00000321848:T308I;ENSP00000338670:T210I	ENSP00000321848:T308I	T	-	2	0	ZNF671	62924343	0.054000	0.20591	0.291000	0.24904	0.979000	0.70002	0.581000	0.23819	0.330000	0.23485	0.467000	0.42956	ACT		0.483	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		38	54	0	0	0	1	0	38	54				
RUNX1T1	862	broad.mit.edu	37	8	93026864	93026864	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:93026864G>A	ENST00000523629.1	-	4	865	c.411C>T	c.(409-411)ggC>ggT	p.G137G	RUNX1T1_ENST00000518844.1_Silent_p.G110G|RUNX1T1_ENST00000360348.2_Silent_p.G100G|RUNX1T1_ENST00000396218.1_Silent_p.G110G|RUNX1T1_ENST00000265814.3_Silent_p.G137G|RUNX1T1_ENST00000436581.2_Silent_p.G148G|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000422361.2_Silent_p.G100G|RUNX1T1_ENST00000521553.1_Silent_p.G100G|RUNX1T1_ENST00000520724.1_Silent_p.G100G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	137	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AAATGTCATTGCCAAACTGCT	0.512																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(409-411)ggC>ggT		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							111.0	105.0	107.0					8																	93026864		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93026864G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.411C>T	8.37:g.93026864G>A						RUNX1T1_ENST00000436581.2_Silent_p.G148G|RUNX1T1_ENST00000265814.3_Silent_p.G137G|RUNX1T1_ENST00000520724.1_Silent_p.G100G|RUNX1T1_ENST00000396218.1_Silent_p.G110G|RUNX1T1_ENST00000422361.2_Silent_p.G100G|RUNX1T1_ENST00000360348.2_Silent_p.G100G|RUNX1T1_ENST00000521553.1_Silent_p.G100G|RUNX1T1_ENST00000518844.1_Silent_p.G110G	p.G137G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	865	-			137			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.411C>T	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		8	58	0	0	0	1	0	8	58				
PRG4	10216	broad.mit.edu	37	1	186276233	186276233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186276233C>T	ENST00000445192.2	+	7	1427	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P420L|PRG4_ENST00000367486.3_Missense_Mutation_p.P418L|PRG4_ENST00000367485.4_Missense_Mutation_p.P368L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	461	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTACACCCACCACTCCC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1381-1383)cCc>cTc		proteoglycan 4							88.0	97.0	94.0					1																	186276233		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276233C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1382C>T	1.37:g.186276233C>T	ENSP00000399679:p.Pro461Leu					PRG4_ENST00000367483.4_Missense_Mutation_p.P420L|PRG4_ENST00000367486.3_Missense_Mutation_p.P418L|PRG4_ENST00000367485.4_Missense_Mutation_p.P368L|PRG4_ENST00000367484.3_Intron	p.P461L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1427	+			461			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1382C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	8.443	0.851365	0.17034	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.08896	3.04;3.1;3.05;3.14	3.89	1.83	0.25207	.	0.780634	0.10495	U	0.667968	T	0.08537	0.0212	L	0.60455	1.87	0.21933	N	0.999469	B;B;B;B	0.18013	0.025;0.009;0.005;0.009	B;B;B;B	0.15052	0.012;0.007;0.003;0.007	T	0.39440	-0.9614	9	.	.	.	.	3.8107	0.08795	0.1656:0.5795:0.1611:0.0938	.	327;368;461;420	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	L	418;327;420;368;461	ENSP00000356456:P418L;ENSP00000356453:P420L;ENSP00000356455:P368L;ENSP00000399679:P461L	.	P	+	2	0	PRG4	184542856	0.022000	0.18835	0.000000	0.03702	0.019000	0.09904	3.050000	0.49877	0.191000	0.20236	0.478000	0.44815	CCC		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		22	32	0	0	0	1	0	22	32				
OR2AK2	391191	broad.mit.edu	37	1	248129537	248129537	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248129537C>T	ENST00000366480.3	+	1	1003	c.904C>T	c.(904-906)Cca>Tca	p.P302S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACTGAACCCATTTATCTA	0.463																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(904-906)Cca>Tca		olfactory receptor, family 2, subfamily AK, member 2							117.0	105.0	109.0					1																	248129537		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129537C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.904C>T	1.37:g.248129537C>T	ENSP00000355436:p.Pro302Ser					OR2L13_ENST00000366478.2_Intron	p.P302S	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	1003	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		302					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.904C>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.140924	0.56936	.	.	ENSG00000187080	ENST00000366480	T	0.63417	-0.04	3.04	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74268	0.3694	M	0.62723	1.935	0.30889	N	0.730591	D	0.89917	1.0	D	0.91635	0.999	T	0.72789	-0.4187	9	0.87932	D	0	.	11.018	0.47701	0.1883:0.8117:0.0:0.0	.	302	Q8NG84	O2AK2_HUMAN	S	302	ENSP00000355436:P302S	ENSP00000355436:P302S	P	+	1	0	OR2AK2	246196160	1.000000	0.71417	0.016000	0.15963	0.026000	0.11368	4.911000	0.63328	0.565000	0.29255	0.462000	0.41574	CCA		0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		6	59	0	0	0	1	0	6	59				
VPS13C	54832	broad.mit.edu	37	15	62205518	62205518	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:62205518C>T	ENST00000261517.5	-	62	8615	c.8542G>A	c.(8542-8544)Gag>Aag	p.E2848K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E2848K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2805K|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2805K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGGTACTCCATATTGTTG	0.398																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8542-8544)Gag>Aag		vacuolar protein sorting 13 homolog C (S. cerevisiae)							221.0	198.0	206.0					15																	62205518		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62205518C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8542G>A	15.37:g.62205518C>T	ENSP00000261517:p.Glu2848Lys					VPS13C_ENST00000395898.3_Missense_Mutation_p.E2805K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2805K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2848K	p.E2848K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			62	8615	-			2848						Missense_Mutation	SNP	ENST00000261517.5	37	c.8542G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649519	0.87958	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.29397	1.57;1.57;1.57	5.69	5.69	0.88448	Vacuolar protein sorting-associated protein (1);	0.099975	0.64402	D	0.000002	T	0.43299	0.1241	L	0.38692	1.165	0.58432	D	0.999997	B;B;P;B;B	0.48911	0.041;0.109;0.917;0.203;0.182	B;B;P;B;B	0.55260	0.059;0.059;0.772;0.138;0.098	T	0.20806	-1.0264	10	0.62326	D	0.03	.	19.817	0.96573	0.0:1.0:0.0:0.0	.	2848;2805;2848;2805;2848	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	K	2805;2848;2848;2848	ENSP00000249837:E2805K;ENSP00000261517:E2848K;ENSP00000379233:E2848K	ENSP00000249837:E2805K	E	-	1	0	VPS13C	59992810	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.503000	0.66962	2.678000	0.91216	0.655000	0.94253	GAG		0.398	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	103	0	0	0	1	0	6	103				
FAT4	79633	broad.mit.edu	37	4	126371551	126371551	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126371551G>A	ENST00000394329.3	+	9	9393	c.9380G>A	c.(9379-9381)aGc>aAc	p.S3127N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1425N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3127	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTAAGTACAGCATTTCTTCA	0.408																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9379-9381)aGc>aAc		FAT atypical cadherin 4							68.0	67.0	67.0					4																	126371551		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371551G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9380G>A	4.37:g.126371551G>A	ENSP00000377862:p.Ser3127Asn					FAT4_ENST00000335110.5_Missense_Mutation_p.S1425N	p.S3127N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9393	+			3127			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9380G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	7.768	0.706939	0.15239	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03524	3.9;3.9	5.63	0.131	0.14755	Cadherin (4);Cadherin-like (1);	0.389610	0.17761	N	0.162886	T	0.03178	0.0093	L	0.47716	1.5	0.26817	N	0.968876	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.40515	-0.9559	10	0.25106	T	0.35	.	4.1928	0.10430	0.4244:0.3524:0.2233:0.0	.	1425;3127;3127	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	3127;1425	ENSP00000377862:S3127N;ENSP00000335169:S1425N	ENSP00000335169:S1425N	S	+	2	0	FAT4	126591001	0.973000	0.33851	0.972000	0.41901	0.838000	0.47535	0.894000	0.28350	0.293000	0.22520	0.655000	0.94253	AGC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	27	0	0	0	1	0	18	27				
NLRC3	197358	broad.mit.edu	37	16	3611718	3611718	+	RNA	SNP	C	C	T	rs148712383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3611718C>T	ENST00000301749.7	-	0	2405				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCTGAATGCGACAGTCCTT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18891	0.0		0.0	False		,,,				2504	0.0					ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3		C	HIS/ARG	5,4201		0,5,2098	91.0	101.0	98.0		2000	2.2	1.0	16	dbSNP_134	98	0,8426		0,0,4213	yes	missense	NLRC3	NM_178844.2	29	0,5,6311	TT,TC,CC		0.0,0.1189,0.0396	benign	667/1066	3611718	5,12627	2103	4213	6316			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3611718C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3611718C>T						NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2405	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	10.10	1.257935	0.22965	0.001189	0.0	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.52983	0.64;0.64;0.64	5.55	2.16	0.27623	.	0.481828	0.22726	N	0.056399	T	0.16171	0.0389	.	.	.	0.22330	N	0.999195	B	0.16166	0.016	B	0.26094	0.066	T	0.08868	-1.0701	9	0.12430	T	0.62	.	1.3279	0.02129	0.1772:0.4553:0.1708:0.1968	.	714	C9JLH9	.	H	667;667;667;714	ENSP00000301749:R667H;ENSP00000352039:R667H;ENSP00000414415:R714H	ENSP00000301749:R667H	R	-	2	0	NLRC3	3551719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.809000	0.47971	1.357000	0.45904	0.555000	0.69702	CGC		0.597	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		13	41	0	0	0	1	0	13	41				
QRICH2	84074	broad.mit.edu	37	17	74289739	74289739	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74289739C>T	ENST00000262765.5	-	4	750	c.571G>A	c.(571-573)Gca>Aca	p.A191T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	191										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGACGTGCATTTCTTCTT	0.522																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(571-573)Gca>Aca		glutamine rich 2							136.0	105.0	116.0					17																	74289739		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289739C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.571G>A	17.37:g.74289739C>T	ENSP00000262765:p.Ala191Thr						p.A191T	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	750	-			191					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.571G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.978051	0.18812	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09723	2.95	2.45	2.45	0.29901	.	.	.	.	.	T	0.09642	0.0237	L	0.47190	1.495	0.09310	N	1	P;B	0.40332	0.713;0.297	B;B	0.36464	0.225;0.135	T	0.18304	-1.0341	9	0.34782	T	0.22	0.1624	8.5201	0.33270	0.0:1.0:0.0:0.0	.	191;191	B5MD94;Q9H0J4	.;QRIC2_HUMAN	T	191	ENSP00000262765:A191T	ENSP00000262765:A191T	A	-	1	0	QRICH2	71801334	0.002000	0.14202	0.008000	0.14137	0.002000	0.02628	0.822000	0.27352	1.701000	0.51217	0.563000	0.77884	GCA		0.522	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		17	29	0	0	0	1	0	17	29				
TNXB	7148	broad.mit.edu	37	6	32011641	32011641	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32011641G>A	ENST00000375244.3	-	35	11616	c.11415C>T	c.(11413-11415)ggC>ggT	p.G3805G	TNXB_ENST00000375247.2_Silent_p.G3803G|TNXB_ENST00000451343.1_Silent_p.G234G			P22105	TENX_HUMAN	tenascin XB	3850	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCGGGCCTGGCCATCCACCT	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(11413-11415)ggC>ggT		tenascin XB							70.0	86.0	80.0					6																	32011641		1511	2709	4220	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32011641G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11415C>T	6.37:g.32011641G>A						TNXB_ENST00000451343.1_Silent_p.G234G|TNXB_ENST00000375247.2_Silent_p.G3803G	p.G3805G			P22105	TENX_HUMAN			35	11616	-			3850			Fibronectin type-III 30.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.11415C>T																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		18	31	0	0	0	1	0	18	31				
FNIP2	57600	broad.mit.edu	37	4	159782886	159782886	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:159782886C>T	ENST00000264433.6	+	12	1498	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L	FNIP2_ENST00000379346.3_Silent_p.L498L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	475					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGTGAACATGCTGGCCAAAAC	0.468																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1423-1425)Ctg>Ttg		folliculin interacting protein 2							150.0	144.0	146.0					4																	159782886		1948	4139	6087	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159782886C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1423C>T	4.37:g.159782886C>T						FNIP2_ENST00000379346.3_Silent_p.L498L	p.L475L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	1498	+	all_hematologic(180;0.24)		475					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.1423C>T	CCDS47155.1																																																																																				0.468	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		42	80	0	0	0	1	0	42	80				
DMXL2	23312	broad.mit.edu	37	15	51795013	51795013	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51795013C>T	ENST00000251076.5	-	17	3269	c.2982G>A	c.(2980-2982)acG>acA	p.T994T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.T994T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	994						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCTGAAGGCGTTGCTCTTA	0.398																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(2980-2982)acG>acA		Dmx-like 2							106.0	103.0	104.0					15																	51795013		2195	4293	6488	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51795013C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2982G>A	15.37:g.51795013C>T						DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.T994T	p.T994T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3269	-			994					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.2982G>A	CCDS10141.1																																																																																				0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		21	54	0	0	0	1	0	21	54				
R3HDM1	23518	broad.mit.edu	37	2	136418857	136418857	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136418857C>T	ENST00000264160.4	+	18	2311	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	R3HDM1_ENST00000329971.3_Silent_p.C518C|R3HDM1_ENST00000409606.1_Silent_p.C648C|R3HDM1_ENST00000410054.1_Silent_p.C592C|R3HDM1_ENST00000409478.1_Silent_p.C519C	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	647							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGTTATTGCGCTCCAGGCC	0.433																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1939-1941)tgC>tgT		R3H domain containing 1							143.0	125.0	131.0					2																	136418857		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136418857C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1941C>T	2.37:g.136418857C>T						R3HDM1_ENST00000410054.1_Silent_p.C592C|R3HDM1_ENST00000409606.1_Silent_p.C648C|R3HDM1_ENST00000409478.1_Silent_p.C519C|R3HDM1_ENST00000329971.3_Silent_p.C518C	p.C647C	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	18	2311	+			647					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1941C>T	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192336	0.09599	.	.	ENSG00000048991	ENST00000429703	.	.	.	5.65	3.09	0.35607	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52704	-0.8540	4	.	.	.	-8.0748	9.9748	0.41777	0.0:0.1315:0.0:0.8685	.	.	.	.	C	371	.	.	R	+	1	0	R3HDM1	136135327	1.000000	0.71417	0.924000	0.36721	0.619000	0.37552	2.497000	0.45354	0.403000	0.25479	-1.028000	0.02416	CGC		0.433	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		25	65	0	0	0	1	0	25	65				
TARBP1	6894	broad.mit.edu	37	1	234536927	234536927	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234536927C>A	ENST00000040877.1	-	25	4070	c.4071G>T	c.(4069-4071)gaG>gaT	p.E1357D	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCTACTCACCTCTAGACAAT	0.348																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.e25+1		TAR (HIV-1) RNA binding protein 1							93.0	87.0	89.0					1																	234536927		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234536927C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4071+1G>T	1.37:g.234536927C>A						TARBP1_ENST00000483404.1_5'UTR	p.E1357_splice	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		25	4070	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1357					Q9H581	Splice_Site	SNP	ENST00000040877.1	37	c.4071_splice	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106802	0.94292	.	.	ENSG00000059588	ENST00000040877	T	0.09723	2.95	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.01413	-1.1361	9	.	.	.	-16.2085	20.4488	0.99124	0.0:1.0:0.0:0.0	.	1357	Q13395	TARB1_HUMAN	D	1357	ENSP00000040877:E1357D	.	E	-	3	2	TARBP1	232603550	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.303000	0.65738	2.843000	0.97960	0.655000	0.94253	GAG		0.348	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Missense_Mutation	12	19	1	0	4.3838e-07	1	4.58243e-07	12	19				
SCFD1	23256	broad.mit.edu	37	14	31188567	31188567	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31188567C>T	ENST00000458591.2	+	21	1947	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L	SCFD1_ENST00000396629.2_Silent_p.L482L|SCFD1_ENST00000421551.3_Silent_p.L515L|SCFD1_ENST00000544052.2_Silent_p.L507L|SCFD1_ENST00000541123.1_Silent_p.L389L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	574					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCCCAAAATGCTGCGGGGCAA	0.338																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1720-1722)Ctg>Ttg		sec1 family domain containing 1							109.0	124.0	119.0					14																	31188567		2203	4300	6503	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31188567C>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1720C>T	14.37:g.31188567C>T						SCFD1_ENST00000544052.2_Silent_p.L507L|SCFD1_ENST00000421551.3_Silent_p.L515L|SCFD1_ENST00000396629.2_Silent_p.L482L|SCFD1_ENST00000541123.1_Silent_p.L389L	p.L574L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	21	1947	+	Hepatocellular(127;0.0877)		574					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1720C>T	CCDS9639.1																																																																																				0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		26	41	0	0	0	1	0	26	41				
CARD9	64170	broad.mit.edu	37	9	139264857	139264857	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139264857G>A	ENST00000371732.5	-	6	1005	c.840C>T	c.(838-840)atC>atT	p.I280I	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Silent_p.I280I|CARD9_ENST00000315908.7_Silent_p.I280I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	280					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCAGTACCTGGATGTAGGGGC	0.687																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(838-840)atC>atT		caspase recruitment domain family, member 9							33.0	35.0	34.0					9																	139264857		2193	4298	6491	SO:0001819	synonymous_variant	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264857G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.840C>T	9.37:g.139264857G>A						CARD9_ENST00000371734.3_Silent_p.I280I|CARD9_ENST00000315908.7_Silent_p.I280I	p.I280I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	6	1005	-		Myeloproliferative disorder(178;0.0511)	280					Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	c.840C>T	CCDS6997.1																																																																																				0.687	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		7	8	0	0	0	1	0	7	8				
GPR12	2835	broad.mit.edu	37	13	27333935	27333935	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:27333935G>A	ENST00000381436.2	-	1	492	c.30C>T	c.(28-30)agC>agT	p.S10S	GPR12_ENST00000405846.3_Silent_p.S10S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	10					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGGCAGCCCGCTTAAATTGA	0.502																																						ENST00000405846.3																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(28-30)agC>agT		G protein-coupled receptor 12							37.0	43.0	41.0					13																	27333935		2199	4300	6499	SO:0001819	synonymous_variant	0					integral to plasma membrane		g.chr13:27333935G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.30C>T	13.37:g.27333935G>A						GPR12_ENST00000381436.2_Silent_p.S10S	p.S10S	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	251	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	10					Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.30C>T	CCDS9319.1																																																																																				0.502	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			21	26	0	0	0	1	0	21	26				
SETX	23064	broad.mit.edu	37	9	135176063	135176063	+	Silent	SNP	G	G	A	rs117410554		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135176063G>A	ENST00000224140.5	-	12	5684	c.5502C>T	c.(5500-5502)caC>caT	p.H1834H	SETX_ENST00000393220.1_Silent_p.H1834H|SETX_ENST00000372169.2_Silent_p.H1834H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1834					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATGATATTCGTGGAGATCTT	0.358													A|||	1	0.000199681	0.0	0.0	5008	,	,		16367	0.0		0.001	False		,,,				2504	0.0					ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5500-5502)caC>caT		senataxin							258.0	238.0	245.0					9																	135176063		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135176063G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5502C>T	9.37:g.135176063G>A						SETX_ENST00000224140.5_Silent_p.H1834H|SETX_ENST00000393220.1_Silent_p.H1834H	p.H1834H			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	12	5684	-		Myeloproliferative disorder(178;0.204)	1834					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.5502C>T	CCDS6947.1																																																																																				0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		46	59	0	0	0	1	0	46	59				
ABCC11	85320	broad.mit.edu	37	16	48239325	48239325	+	Splice_Site	SNP	G	G	A	rs142338810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48239325G>A	ENST00000394747.1	-	12	2153	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	ABCC11_ENST00000394748.1_Splice_Site_p.R602*|ABCC11_ENST00000353782.5_Splice_Site_p.R602*|ABCC11_ENST00000537808.1_Splice_Site_p.R602*|ABCC11_ENST00000356608.2_Splice_Site_p.R602*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	602	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGAGCTTACCGGGCCTTGTCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18402	0.0		0.001	False		,,,				2504	0.0					ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.e12+1		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							155.0	144.0	147.0					16																	48239325		2201	4300	6501	SO:0001630	splice_region_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48239325G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1805+1C>T	16.37:g.48239325G>A						ABCC11_ENST00000353782.5_Splice_Site_p.R602_splice|ABCC11_ENST00000394748.1_Splice_Site_p.R602_splice|ABCC11_ENST00000356608.2_Splice_Site_p.R602_splice|ABCC11_ENST00000537808.1_Splice_Site_p.R602_splice	p.R602_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			12	2153	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	602			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Splice_Site	SNP	ENST00000394747.1	37	c.1805_splice	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	41	8.933768	0.99008	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	4.86	-6.67	0.01783	.	0.200986	0.39475	N	0.001360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2668	5.0397	0.14452	0.3251:0.0:0.1785:0.4964	.	.	.	.	X	602	.	ENSP00000311326:R602X	R	-	1	2	ABCC11	46796826	0.003000	0.15002	0.009000	0.14445	0.838000	0.47535	-0.027000	0.12371	-0.879000	0.04002	0.563000	0.77884	CGA		0.602	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	Nonsense_Mutation	14	96	0	0	0	1	0	14	96				
WDR66	144406	broad.mit.edu	37	12	122392096	122392096	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122392096C>T	ENST00000288912.4	+	10	2245	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	WDR66_ENST00000397454.2_Missense_Mutation_p.A464V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	464							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATACTCTCAGCCACAATGGAA	0.433																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1390-1392)gCc>gTc		WD repeat domain 66							108.0	103.0	105.0					12																	122392096		1904	4124	6028	SO:0001583	missense	144406						calcium ion binding	g.chr12:122392096C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1391C>T	12.37:g.122392096C>T	ENSP00000288912:p.Ala464Val					WDR66_ENST00000397454.2_Missense_Mutation_p.A464V	p.A464V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	10	2245	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		464					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1391C>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002444	0.54254	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.65549	0.92;-0.16	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.246918	0.40908	D	0.000990	T	0.63954	0.2555	M	0.67953	2.075	0.26394	N	0.976531	P	0.37824	0.609	B	0.40864	0.342	T	0.63129	-0.6706	10	0.46703	T	0.11	.	13.8813	0.63684	0.0:0.7284:0.2716:0.0	.	464	Q8TBY9	WDR66_HUMAN	V	464	ENSP00000288912:A464V;ENSP00000380595:A464V	ENSP00000288912:A464V	A	+	2	0	WDR66	120876479	0.880000	0.30214	0.137000	0.22149	0.574000	0.36063	1.516000	0.35856	2.619000	0.88677	0.491000	0.48974	GCC		0.433	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		4	123	0	0	0	1	0	4	123				
PLCH2	9651	broad.mit.edu	37	1	2419141	2419141	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2419141G>A	ENST00000419816.2	+	8	1493	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	PLCH2_ENST00000449969.1_Missense_Mutation_p.A380T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A407T|PLCH2_ENST00000378488.3_Missense_Mutation_p.A407T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	407	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAACAAATATGCCTTCATCAA	0.572																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1138-1140)Gcc>Acc		phospholipase C, eta 2							51.0	54.0	53.0					1																	2419141		1979	4164	6143	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2419141G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1219G>A	1.37:g.2419141G>A	ENSP00000389803:p.Ala407Thr					PLCH2_ENST00000378488.3_Missense_Mutation_p.A407T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A407T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A407T|PLCH2_ENST00000288766.5_Intron	p.A380T			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	8	1299	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	407			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1138G>A		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822732	0.71028	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.72725	-0.68;-0.68;-0.68	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.059107	0.64402	D	0.000002	D	0.89822	0.6826	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93677	0.6995	10	0.87932	D	0	.	16.7595	0.85508	0.0:0.0:1.0:0.0	.	254;195;380;407	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	T	380;407;407;254;195	ENSP00000397289:A380T;ENSP00000367747:A407T;ENSP00000367749:A407T	ENSP00000278878:A195T	A	+	1	0	PLCH2	2409001	1.000000	0.71417	0.971000	0.41717	0.361000	0.29550	6.347000	0.73004	2.200000	0.70718	0.561000	0.74099	GCC		0.572	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		13	14	0	0	0	1	0	13	14				
RNF123	63891	broad.mit.edu	37	3	49758036	49758036	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49758036C>A	ENST00000327697.6	+	36	3737	c.3593C>A	c.(3592-3594)cCt>cAt	p.P1198H	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_De_novo_Start_OutOfFrame|RNF123_ENST00000433785.1_Missense_Mutation_p.P310H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1198					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCCAGCACCTGGCACTGCT	0.627																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5								adhesion molecule with Ig-like domain 3							51.0	51.0	51.0					3																	49758036		2203	4300	6503	SO:0001583	missense	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49758036C>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3593C>A	3.37:g.49758036C>A	ENSP00000328287:p.Pro1198His					GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Missense_Mutation_p.P1198H|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.P310H				Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	0	2313	-								A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Translation_Start_Site	SNP	ENST00000327697.6	37		CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826611	0.50739	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.72282	-0.64	5.29	5.29	0.74685	.	0.445889	0.23487	N	0.047650	T	0.49150	0.1540	N	0.08118	0	0.25702	N	0.985576	B	0.28512	0.214	B	0.31751	0.135	T	0.38243	-0.9670	10	0.40728	T	0.16	-9.0417	7.3037	0.26434	0.0:0.8255:0.0:0.1745	.	1198	Q5XPI4	RN123_HUMAN	H	1198;1198;310	ENSP00000328287:P1198H	ENSP00000328287:P1198H	P	+	2	0	RNF123	49733040	0.646000	0.27295	1.000000	0.80357	0.984000	0.73092	1.975000	0.40569	2.756000	0.94617	0.561000	0.74099	CCT		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		7	33	1	0	3.09899e-07	1	3.24337e-07	7	33				
VIM	7431	broad.mit.edu	37	10	17271519	17271519	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17271519C>T	ENST00000224237.5	+	1	243	c.98C>T	c.(97-99)aCg>aTg	p.T33M	VIM-AS1_ENST00000605833.1_RNA|VIM-AS1_ENST00000437232.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM_ENST00000544301.1_Missense_Mutation_p.T33M			P08670	VIME_HUMAN	vimentin	33	Head.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACGTGACTACGTCCACCCGC	0.721																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(97-99)aCg>aTg		vimentin							12.0	12.0	12.0					10																	17271519		2182	4263	6445	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271519C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.98C>T	10.37:g.17271519C>T	ENSP00000224237:p.Thr33Met					VIM_ENST00000224237.5_Missense_Mutation_p.T33M|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR	p.T33M	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			2	511	+			33			Head.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.98C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015322	0.35511	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.82711	-1.64;-1.64	5.26	4.33	0.51752	Intermediate filament head, DNA-binding domain (1);	0.320980	0.22166	N	0.063716	T	0.68495	0.3007	N	0.04508	-0.205	0.32189	N	0.579325	B;B;P;B;B	0.50156	0.133;0.067;0.932;0.349;0.133	B;B;B;B;B	0.43360	0.017;0.016;0.417;0.097;0.017	T	0.73697	-0.3901	10	0.33940	T	0.23	.	14.9651	0.71184	0.144:0.856:0.0:0.0	.	33;20;20;33;33	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	M	33;33;20	ENSP00000446007:T33M;ENSP00000224237:T33M	ENSP00000224237:T33M	T	+	2	0	VIM	17311525	0.530000	0.26330	0.985000	0.45067	0.031000	0.12232	1.756000	0.38390	1.173000	0.42796	0.448000	0.29417	ACG		0.721	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		5	8	0	0	0	1	0	5	8				
SLC22A20	440044	broad.mit.edu	37	11	65004274	65004274	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65004274G>A	ENST00000525437.1	+	0	1524							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGGCCACCGCAATCCTGGC	0.677																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															62.0	69.0	67.0					11																	65004274		2082	4206	6288			0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65004274G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004274G>A										A6NK97	S22AK_HUMAN			0	1524	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.677	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		22	62	0	0	0	1	0	22	62				
JUP	3728	broad.mit.edu	37	17	39927978	39927978	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39927978C>A	ENST00000393931.3	-	2	247	c.129G>T	c.(127-129)atG>atT	p.M43I	JUP_ENST00000393930.1_Missense_Mutation_p.M43I|JUP_ENST00000310706.5_Missense_Mutation_p.M43I|JUP_ENST00000540235.1_Missense_Mutation_p.M43I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	43					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.K40_Y53del(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCCTCCTCCATGATGCCCT	0.617																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			1	Deletion - In frame(1)	p.K40_Y53del(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(127-129)atG>atT		junction plakoglobin							100.0	94.0	96.0					17																	39927978		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39927978C>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.129G>T	17.37:g.39927978C>A	ENSP00000377508:p.Met43Ile					JUP_ENST00000393930.1_Missense_Mutation_p.M43I|JUP_ENST00000310706.5_Missense_Mutation_p.M43I|JUP_ENST00000540235.1_Missense_Mutation_p.M43I	p.M43I	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	2	247	-		Breast(137;0.000162)	43					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.129G>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	6.316	0.426444	0.11987	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457;ENST00000437369	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.02	1.74	0.24563	.	0.664574	0.16210	N	0.224527	T	0.19046	0.0457	N	0.04508	-0.205	0.25744	N	0.985124	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19943	-1.0290	10	0.22706	T	0.39	-21.5322	9.8343	0.40960	0.0:0.5571:0.3595:0.0833	.	43;43	B4DE59;P14923	.;PLAK_HUMAN	I	43	ENSP00000441751:M43I;ENSP00000377507:M43I;ENSP00000311113:M43I;ENSP00000377508:M43I;ENSP00000389886:M43I;ENSP00000394146:M43I;ENSP00000411449:M43I;ENSP00000401034:M43I;ENSP00000409948:M43I	ENSP00000311113:M43I	M	-	3	0	JUP	37181504	0.051000	0.20477	0.973000	0.42090	0.222000	0.24845	-0.147000	0.10234	0.698000	0.31739	0.542000	0.68232	ATG		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			7	20	1	0	2.17888e-05	1	2.24846e-05	7	20				
STX10	8677	broad.mit.edu	37	19	13256153	13256153	+	Silent	SNP	G	G	A	rs367739042		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13256153G>A	ENST00000587230.1	-	5	484	c.420C>T	c.(418-420)agC>agT	p.S140S	STX10_ENST00000242770.5_Silent_p.S140S|STX10_ENST00000343587.5_Silent_p.S91S|STX10_ENST00000589083.1_Silent_p.S140S	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	140					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCGAGACTGCGCTGGCATCCA	0.622																																						ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(418-420)agC>agT		syntaxin 10		G		1,4405	2.1+/-5.4	0,1,2202	52.0	47.0	49.0		420	-7.3	0.0	19		49	0,8600		0,0,4300	no	coding-synonymous	STX10	NM_003765.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		140/250	13256153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13256153G>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.420C>T	19.37:g.13256153G>A						STX10_ENST00000242770.5_Silent_p.S140S|STX10_ENST00000587230.1_Silent_p.S140S|STX10_ENST00000343587.5_Silent_p.S91S	p.S140S	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		5	472	-			140					A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.420C>T	CCDS32922.1																																																																																				0.622	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		11	15	0	0	0	1	0	11	15				
ZMIZ1	57178	broad.mit.edu	37	10	81050916	81050916	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81050916C>T	ENST00000334512.5	+	10	1313	c.741C>T	c.(739-741)agC>agT	p.S247S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	247					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCGGCAGCGGGGGCTTTG	0.647																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(739-741)agC>agT		zinc finger, MIZ-type containing 1							18.0	20.0	19.0					10																	81050916		2202	4300	6502	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050916C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.741C>T	10.37:g.81050916C>T						ZMIZ1_ENST00000478357.1_3'UTR	p.S247S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1313	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		247					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.741C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	3.941	-0.014246	0.07681	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	-0.00824	0.14005	.	.	.	.	.	T	0.55593	0.1930	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49021	-0.8982	5	0.39692	T	0.17	-19.9741	6.8607	0.24066	0.1142:0.4399:0.0:0.4459	.	.	.	.	W	179	.	ENSP00000361422:R179W	R	+	1	2	ZMIZ1	80720922	0.002000	0.14202	0.992000	0.48379	0.388000	0.30384	-0.800000	0.04555	-0.112000	0.11979	-1.814000	0.00607	CGG		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	19	0	0	0	1	0	9	19				
ZNF3	7551	broad.mit.edu	37	7	99669204	99669204	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99669204G>A	ENST00000424697.1	-	6	1209	c.903C>T	c.(901-903)caC>caT	p.H301H	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Silent_p.H301H|ZNF3_ENST00000299667.4_Silent_p.H301H	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	301					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCTCTGATGGTGGGTGAGGG	0.532																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(901-903)caC>caT		zinc finger protein 3							50.0	55.0	54.0					7																	99669204		2200	4299	6499	SO:0001819	synonymous_variant	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669204G>A	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.903C>T	7.37:g.99669204G>A						ZNF3_ENST00000424697.1_Silent_p.H301H|ZNF3_ENST00000299667.4_Silent_p.H301H|ZNF3_ENST00000413658.2_Intron	p.H301H			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1870	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	301					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Silent	SNP	ENST00000424697.1	37	c.903C>T	CCDS43619.1																																																																																				0.532	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		14	34	0	0	0	1	0	14	34				
EXOC3	11336	broad.mit.edu	37	5	447679	447679	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:447679G>A	ENST00000512944.1	+	3	365	c.176G>A	c.(175-177)cGc>cAc	p.R59H	EXOC3_ENST00000315013.5_Missense_Mutation_p.R59H	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	70					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACGGGGTGCGCACAGGCCTC	0.587																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(175-177)cGc>cAc		exocyst complex component 3							23.0	27.0	26.0					5																	447679		2188	4279	6467	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:447679G>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.176G>A	5.37:g.447679G>A	ENSP00000425587:p.Arg59His					EXOC3_ENST00000315013.5_Missense_Mutation_p.R59H	p.R59H	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		3	365	+		Ovarian(839;0.0563)	70					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.176G>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945596	0.92593	.	.	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.09911	2.93;2.93	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.00160	-1.1973	10	0.44086	T	0.13	-20.2465	16.9484	0.86236	0.0:0.0:1.0:0.0	.	70	O60645	EXOC3_HUMAN	H	59;59;59;69	ENSP00000425587:R59H;ENSP00000323377:R59H	ENSP00000323377:R59H	R	+	2	0	EXOC3	500679	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.456000	0.97628	2.665000	0.90641	0.655000	0.94253	CGC		0.587	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		4	4	0	0	0	1	0	4	4				
KCNG2	26251	broad.mit.edu	37	18	77659290	77659290	+	Missense_Mutation	SNP	C	C	T	rs376845551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:77659290C>T	ENST00000316249.3	+	2	875	c.875C>T	c.(874-876)gCg>gTg	p.A292V	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	292					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCTGCGTGCGCTGCGCGTG	0.746																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(874-876)gCg>gTg		potassium voltage-gated channel, subfamily G, member 2		C	VAL/ALA	1,4109		0,1,2054	10.0	13.0	12.0		875	3.3	1.0	18		12	0,7994		0,0,3997	no	missense	KCNG2	NM_012283.1	64	0,1,6051	TT,TC,CC		0.0,0.0243,0.0083	probably-damaging	292/467	77659290	1,12103	2055	3997	6052	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659290C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.875C>T	18.37:g.77659290C>T	ENSP00000315654:p.Ala292Val					KCNG2_ENST00000590307.1_3'UTR	p.A292V	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	875	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	292						Missense_Mutation	SNP	ENST00000316249.3	37	c.875C>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455411	0.63401	2.43E-4	0.0	ENSG00000178342	ENST00000316249	D	0.97994	-4.65	3.35	3.35	0.38373	Ion transport (1);	0.072732	0.56097	U	0.000039	D	0.96861	0.8975	N	0.21142	0.635	0.53688	D	0.999979	D	0.89917	1.0	D	0.83275	0.996	D	0.95175	0.8294	10	0.20519	T	0.43	.	14.868	0.70430	0.0:1.0:0.0:0.0	.	292	Q9UJ96	KCNG2_HUMAN	V	292	ENSP00000315654:A292V	ENSP00000315654:A292V	A	+	2	0	KCNG2	75760278	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	5.007000	0.63984	1.708000	0.51301	0.411000	0.27672	GCG		0.746	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	10	0	0	0	1	0	3	10				
DOCK4	9732	broad.mit.edu	37	7	111386472	111386472	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111386472G>A	ENST00000437633.1	-	43	4824	c.4568C>T	c.(4567-4569)gCa>gTa	p.A1523V	DOCK4_ENST00000494651.2_Splice_Site_p.A406V|DOCK4_ENST00000428084.1_Splice_Site_p.A1532V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1523	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GACAAAGAATGCCTAGTAAGG	0.413																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e44-1		dedicator of cytokinesis 4							71.0	66.0	68.0					7																	111386472		1861	4104	5965	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111386472G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4567-1C>T	7.37:g.111386472G>A						DOCK4_ENST00000437633.1_Splice_Site_p.A1523_splice|DOCK4_ENST00000494651.2_Splice_Site_p.A406_splice	p.A1532_splice			Q8N1I0	DOCK4_HUMAN			44	4867	-		Acute lymphoblastic leukemia(1;0.0441)	1523			DHR-2.		O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.4593_splice	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.047449|5.047449	0.93740|0.93740	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288|ENST00000423057;ENST00000445943	T;T;T|.	0.15017|.	2.46;2.46;2.46|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71829|0.71829	0.3386|0.3386	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.71674|.	0.938;0.924;0.998;0.998;0.997|.	P;P;D;D;D|.	0.70935|.	0.874;0.747;0.971;0.951;0.919|.	T|T	0.69705|0.69705	-0.5073|-0.5073	10|5	0.87932|.	D|.	0|.	.|.	18.375|18.375	0.90432|0.90432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	430;406;1568;1523;1532|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	V|Y	1511;1532;406;1523;1520|984;1556	ENSP00000410746:A1532V;ENSP00000440944:A406V;ENSP00000404179:A1523V|.	ENSP00000345432:A1520V|.	A|H	-|-	2|1	0|0	DOCK4|DOCK4	111173708|111173708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.578000|9.578000	0.98200|0.98200	2.563000|2.563000	0.86464|0.86464	0.650000|0.650000	0.86243|0.86243	GCA|CAT		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Missense_Mutation	4	9	0	0	0	1	0	4	9				
LUZP1	7798	broad.mit.edu	37	1	23417825	23417825	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23417825C>A	ENST00000302291.4	-	4	3731	c.2930G>T	c.(2929-2931)aGg>aTg	p.R977M	LUZP1_ENST00000418342.1_Missense_Mutation_p.R977M|LUZP1_ENST00000374623.3_Missense_Mutation_p.R977M|LUZP1_ENST00000314174.5_Missense_Mutation_p.R977M			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	977					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGTCCTACCCTTCGAGTGCC	0.557																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2929-2931)aGg>aTg		leucine zipper protein 1							99.0	85.0	90.0					1																	23417825		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23417825C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2930G>T	1.37:g.23417825C>A	ENSP00000303758:p.Arg977Met					LUZP1_ENST00000374623.3_Missense_Mutation_p.R977M|LUZP1_ENST00000418342.1_Missense_Mutation_p.R977M|LUZP1_ENST00000314174.5_Missense_Mutation_p.R977M	p.R977M			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3731	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	977					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2930G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007973	0.54361	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19938	2.31;2.31;2.31;2.11	4.93	2.01	0.26516	.	0.362482	0.23787	N	0.044562	T	0.25044	0.0608	L	0.51422	1.61	0.09310	N	0.999997	P;P	0.45827	0.785;0.867	P;P	0.48141	0.568;0.568	T	0.06807	-1.0806	10	0.87932	D	0	.	9.3601	0.38190	0.0:0.8333:0.0:0.1667	.	977;977	Q86V48-2;Q86V48	.;LUZP1_HUMAN	M	977	ENSP00000393460:R977M;ENSP00000363752:R977M;ENSP00000303758:R977M;ENSP00000313705:R977M	ENSP00000303758:R977M	R	-	2	0	LUZP1	23290412	0.001000	0.12720	0.047000	0.18901	0.990000	0.78478	0.111000	0.15458	0.272000	0.22027	0.585000	0.79938	AGG		0.557	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		12	16	1	0	2.27111e-07	1	2.37911e-07	12	16				
MRVI1	10335	broad.mit.edu	37	11	10631334	10631334	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10631334C>T	ENST00000436272.1	-	10	1509	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.M413I|MRVI1_ENST00000531107.1_Missense_Mutation_p.M496I|MRVI1_ENST00000421747.1_Missense_Mutation_p.M495I|MRVI1_ENST00000558540.1_Missense_Mutation_p.M189I|MRVI1_ENST00000423302.2_Missense_Mutation_p.M504I|MRVI1_ENST00000527509.2_Missense_Mutation_p.M413I|MRVI1_ENST00000541483.1_Missense_Mutation_p.M298I|MRVI1_ENST00000545852.1_Missense_Mutation_p.M189I|MRVI1_ENST00000534266.2_Missense_Mutation_p.M189I|MRVI1_ENST00000547195.1_Missense_Mutation_p.M413I|MRVI1_ENST00000424001.1_Missense_Mutation_p.M189I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	477					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AAATATTAGGCATGACATCTA	0.458																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1237-1239)atG>atA		murine retrovirus integration site 1 homolog							56.0	57.0	57.0					11																	10631334		1897	4111	6008	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10631334C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1431G>A	11.37:g.10631334C>T	ENSP00000412229:p.Met477Ile					MRVI1_ENST00000552103.1_Missense_Mutation_p.M413I|MRVI1_ENST00000423302.2_Missense_Mutation_p.M504I|MRVI1_ENST00000436272.1_Missense_Mutation_p.M477I|MRVI1_ENST00000558540.1_Missense_Mutation_p.M189I|MRVI1_ENST00000545852.1_Missense_Mutation_p.M189I|MRVI1_ENST00000424001.1_Missense_Mutation_p.M189I|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.M413I|MRVI1_ENST00000534266.2_Missense_Mutation_p.M189I|MRVI1_ENST00000421747.1_Missense_Mutation_p.M495I|MRVI1_ENST00000531107.1_Missense_Mutation_p.M496I|MRVI1_ENST00000541483.1_Missense_Mutation_p.M298I	p.M413I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	10	1739	-			477					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.363726	0.95877	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.69078	0.962;0.997;0.997;0.996	D;D;D;D	0.79108	0.946;0.992;0.992;0.986	T	0.00409	-1.1757	10	0.39692	T	0.17	-17.5767	20.8794	0.99867	0.0:1.0:0.0:0.0	.	298;477;496;495	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	I	495;478;477;413;413;189;189;504;298;496;413	ENSP00000414598:M495I;ENSP00000412229:M477I;ENSP00000448278:M413I;ENSP00000446764:M413I;ENSP00000441971:M189I;ENSP00000401205:M189I;ENSP00000412130:M504I;ENSP00000437784:M298I;ENSP00000432436:M496I;ENSP00000432067:M413I	ENSP00000307885:M478I	M	-	3	0	MRVI1	10587910	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.581000	0.74045	2.941000	0.99782	0.655000	0.94253	ATG		0.458	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		19	26	0	0	0	1	0	19	26				
ATP9A	10079	broad.mit.edu	37	20	50230313	50230313	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50230313C>T	ENST00000338821.5	-	23	2738	c.2474G>A	c.(2473-2475)gGc>gAc	p.G825D	ATP9A_ENST00000402822.1_Missense_Mutation_p.G704D|ATP9A_ENST00000311637.5_Missense_Mutation_p.G689D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	825					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGCAACCGGCCAAGATGCTT	0.507																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2473-2475)gGc>gAc		ATPase, class II, type 9A							160.0	158.0	158.0					20																	50230313		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50230313C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2474G>A	20.37:g.50230313C>T	ENSP00000342481:p.Gly825Asp					ATP9A_ENST00000402822.1_Missense_Mutation_p.G704D|ATP9A_ENST00000311637.5_Missense_Mutation_p.G689D	p.G825D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			23	2738	-			825					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2474G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347663	0.82022	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.67523	-0.27;-0.27;-0.27	4.92	4.92	0.64577	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.83275	0.996;0.536	T	0.78932	-0.2009	10	0.62326	D	0.03	-31.8097	18.1056	0.89519	0.0:1.0:0.0:0.0	.	704;825	O75110-2;O75110	.;ATP9A_HUMAN	D	689;825;704	ENSP00000309086:G689D;ENSP00000342481:G825D;ENSP00000385875:G704D	ENSP00000309086:G689D	G	-	2	0	ATP9A	49663720	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.380000	0.79704	2.265000	0.75225	0.561000	0.74099	GGC		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		49	79	0	0	0	1	0	49	79				
GART	2618	broad.mit.edu	37	21	34894556	34894556	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34894556G>A	ENST00000381831.3	-	12	1595	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	GART_ENST00000381839.3_Silent_p.I444I|GART_ENST00000543717.1_5'UTR|GART_ENST00000381815.4_Silent_p.I444I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	444	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTCCAGCTGCGATATCTACTC	0.333																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(1330-1332)atC>atT		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						105.0	93.0	97.0					21																	34894556		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34894556G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1332C>T	21.37:g.34894556G>A						GART_ENST00000381839.3_Silent_p.I444I|GART_ENST00000543717.1_5'UTR|GART_ENST00000381815.4_Silent_p.I444I	p.I444I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			12	1595	-			444			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.1332C>T	CCDS13627.1																																																																																				0.333	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		25	13	0	0	0	1	0	25	13				
PRDM5	11107	broad.mit.edu	37	4	121774625	121774625	+	Missense_Mutation	SNP	C	C	T	rs201945549		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:121774625C>T	ENST00000264808.3	-	3	488	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PRDM5_ENST00000394435.2_Missense_Mutation_p.R83H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGAACGAAGCGAAGCCAGTT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19822	0.0		0.001	False		,,,				2504	0.0					ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(247-249)cGc>cAc		PR domain containing 5		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	304.0	302.0	303.0		248	5.5	1.0	4		303	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRDM5	NM_018699.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	83/631	121774625	2,13004	2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774625C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.248G>A	4.37:g.121774625C>T	ENSP00000264808:p.Arg83His					PRDM5_ENST00000394435.2_Missense_Mutation_p.R83H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R83H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R83H	p.R83H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			3	488	-			83			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.248G>A	CCDS3716.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.760907	0.96906	2.27E-4	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.52	5.52	0.82312	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.83275	0.991;0.996;0.855;0.991	D	0.88684	0.3204	10	0.46703	T	0.11	-13.6783	18.5703	0.91133	0.0:1.0:0.0:0.0	.	83;83;83;83	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	H	83	ENSP00000264808:R83H;ENSP00000422309:R83H;ENSP00000404832:R83H;ENSP00000377955:R83H	ENSP00000264808:R83H	R	-	2	0	PRDM5	121994075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.998000	0.76277	2.751000	0.94390	0.650000	0.86243	CGC		0.473	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			112	165	0	0	0	1	0	112	165				
LPCAT2	54947	broad.mit.edu	37	16	55559532	55559532	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:55559532T>C	ENST00000262134.5	+	2	468	c.284T>C	c.(283-285)cTg>cCg	p.L95P		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	95					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCTGAAAAGCTGACCCACCCA	0.338																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(283-285)cTg>cCg		lysophosphatidylcholine acyltransferase 2							92.0	85.0	87.0					16																	55559532		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55559532T>C	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.284T>C	16.37:g.55559532T>C	ENSP00000262134:p.Leu95Pro						p.L95P	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			2	468	+			95					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.284T>C	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213485	0.22289	.	.	ENSG00000087253	ENST00000262134	T	0.26810	1.71	5.31	-0.949	0.10376	.	0.604873	0.17141	N	0.185428	T	0.11580	0.0282	L	0.27053	0.805	0.47341	D	0.999396	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.22706	T	0.39	-1.1844	0.756	0.00999	0.2324:0.2618:0.1197:0.3861	.	95	Q7L5N7	PCAT2_HUMAN	P	95	ENSP00000262134:L95P	ENSP00000262134:L95P	L	+	2	0	LPCAT2	54117033	0.046000	0.20272	0.995000	0.50966	0.912000	0.54170	-0.533000	0.06157	-0.143000	0.11334	-0.301000	0.09380	CTG		0.338	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		11	53	0	0	0	1	0	11	53				
SOST	50964	broad.mit.edu	37	17	41835926	41835926	+	Missense_Mutation	SNP	C	C	T	rs372515234		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41835926C>T	ENST00000301691.2	-	1	230	c.184G>A	c.(184-186)Gga>Aga	p.G62R		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	62					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGCCGCCCTCCGTTCTCCGCC	0.547																																						ENST00000301691.2																			0				large_intestine(2)|lung(3)|prostate(1)	6						c.(184-186)Gga>Aga		sclerostin		C	ARG/GLY	0,4406		0,0,2203	44.0	42.0	43.0		184	4.1	1.0	17		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOST	NM_025237.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	62/214	41835926	1,13005	2203	4300	6503	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41835926C>T	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.184G>A	17.37:g.41835926C>T	ENSP00000301691:p.Gly62Arg						p.G62R	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	230	-		Breast(137;0.00725)	62					Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.184G>A	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394568	0.83011	0.0	1.16E-4	ENSG00000167941	ENST00000301691	D	0.86366	-2.11	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93104	0.6511	10	0.87932	D	0	-5.1969	14.6195	0.68574	0.0:1.0:0.0:0.0	.	62	Q9BQB4	SOST_HUMAN	R	62	ENSP00000301691:G62R	ENSP00000301691:G62R	G	-	1	0	SOST	39191452	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.527000	0.73803	2.103000	0.63969	0.555000	0.69702	GGA		0.547	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		15	23	0	0	0	1	0	15	23				
OR4K15	81127	broad.mit.edu	37	14	20444660	20444660	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20444660G>A	ENST00000305051.5	+	1	1058	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAAGAGTCGGTATCTGAAG	0.388																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(982-984)cGg>cAg		olfactory receptor, family 4, subfamily K, member 15							60.0	63.0	62.0					14																	20444660		2201	4295	6496	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444660G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.983G>A	14.37:g.20444660G>A	ENSP00000304077:p.Arg328Gln						p.R328Q	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	1058	+	all_cancers(95;0.00108)		328					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.983G>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.515	-0.864917	0.02590	.	.	ENSG00000169488	ENST00000305051	T	0.39056	1.1	3.69	0.721	0.18219	.	0.750110	0.11490	N	0.558806	T	0.20780	0.0500	N	0.25380	0.74	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30880	-0.9963	10	0.02654	T	1	.	3.6271	0.08117	0.3307:0.1907:0.4786:0.0	.	328	Q8NH41	OR4KF_HUMAN	Q	328	ENSP00000304077:R328Q	ENSP00000304077:R328Q	R	+	2	0	OR4K15	19514500	0.000000	0.05858	0.152000	0.22495	0.818000	0.46254	0.209000	0.17435	0.031000	0.15407	-0.218000	0.12543	CGG		0.388	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			21	32	0	0	0	1	0	21	32				
RANBP17	64901	broad.mit.edu	37	5	170640638	170640638	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:170640638C>T	ENST00000523189.1	+	21	2399	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	745					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAAAAGGTACCCAACGTACC	0.398			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2233-2235)taC>taT		RAN binding protein 17							132.0	127.0	129.0					5																	170640638		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170640638C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2235C>T	5.37:g.170640638C>T						RANBP17_ENST00000521759.1_3'UTR	p.Y745Y	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		21	2399	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	745					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2235C>T	CCDS34287.1																																																																																				0.398	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		42	78	0	0	0	1	0	42	78				
ASTE1	28990	broad.mit.edu	37	3	130737469	130737469	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:130737469G>T	ENST00000264992.3	-	4	1835	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	ASTE1_ENST00000514044.1_Missense_Mutation_p.P465H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	465					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GACAGCAATGGGCAACTTCAG	0.483																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1393-1395)cCc>cAc		asteroid homolog 1 (Drosophila)							189.0	174.0	179.0					3																	130737469		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130737469G>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1394C>A	3.37:g.130737469G>T	ENSP00000264992:p.Pro465His					ASTE1_ENST00000514044.1_Missense_Mutation_p.P465H	p.P465H	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			4	1835	-			465					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1394C>A	CCDS3068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.02|15.02	2.708939|2.708939	0.48517|0.48517	.|.	.|.	ENSG00000034533|ENSG00000034533	ENST00000514044;ENST00000264992|ENST00000505290	.|.	.|.	.|.	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	0.105095|0.105095	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.72819|0.72819	0.3508|0.3508	M|M	0.70595|0.70595	2.14|2.14	0.42913|0.42913	D|D	0.994261|0.994261	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71184|.	0.972;0.972|.	T|T	0.73924|0.73924	-0.3829|-0.3829	9|7	0.87932|0.42905	D|T	0|0.14	-12.139|-12.139	14.5574|14.5574	0.68109|0.68109	0.0708:0.0:0.9292:0.0|0.0708:0.0:0.9292:0.0	.|.	465;465|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	H|T	465|42	.|.	ENSP00000264992:P465H|ENSP00000423347:P42T	P|P	-|-	2|1	0|0	ASTE1|ASTE1	132220159|132220159	1.000000|1.000000	0.71417|0.71417	0.876000|0.876000	0.34364|0.34364	0.048000|0.048000	0.14542|0.14542	6.385000|6.385000	0.73182|0.73182	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.483	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		15	50	1	0	1.5739e-10	1	1.6844e-10	15	50				
C14orf80	283643	broad.mit.edu	37	14	105960184	105960184	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105960184A>G	ENST00000392523.4	+	5	719	c.598A>G	c.(598-600)Aca>Gca	p.T200A	C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000450383.1_Missense_Mutation_p.T22A|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000329886.7_Intron|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000392522.3_Missense_Mutation_p.T200A|C14orf80_ENST00000354560.6_Intron			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	200										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCACCTGTACACACGCGGCTG	0.612																																						ENST00000392523.4																			0				central_nervous_system(1)	1						c.(598-600)Aca>Gca		chromosome 14 open reading frame 80							54.0	39.0	44.0					14																	105960184		2195	4299	6494	SO:0001583	missense	283643							g.chr14:105960184A>G		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.598A>G	14.37:g.105960184A>G	ENSP00000376308:p.Thr200Ala					C14orf80_ENST00000392522.3_Missense_Mutation_p.T200A|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000329886.7_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000450383.1_Missense_Mutation_p.T22A|C14orf80_ENST00000551054.1_Intron	p.T200A			Q86SX3	CN080_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)	5	719	+		Melanoma(154;0.226)	200					B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Missense_Mutation	SNP	ENST00000392523.4	37	c.598A>G		.	.	.	.	.	.	.	.	.	.	A	11.06	1.527840	0.27299	.	.	ENSG00000185347	ENST00000455454;ENST00000432805;ENST00000421892;ENST00000392522;ENST00000392523;ENST00000548920;ENST00000450383	.	.	.	3.37	3.37	0.38596	.	0.078051	0.48286	D	0.000196	T	0.55768	0.1941	L	0.46157	1.445	0.32334	N	0.560729	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.80764	0.99;0.994;0.986	T	0.60949	-0.7161	9	0.36615	T	0.2	-32.1025	8.3441	0.32261	1.0:0.0:0.0:0.0	.	148;200;200	C9JZD4;E9PAQ4;Q86SX3	.;.;CN080_HUMAN	A	159;159;74;200;200;129;22	.	ENSP00000376307:T200A	T	+	1	0	C14orf80	105031229	0.869000	0.29996	0.015000	0.15790	0.044000	0.14063	1.661000	0.37408	1.515000	0.48885	0.455000	0.32223	ACA		0.612	C14orf80-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409090.1	NM_001134875		5	19	0	0	0	1	0	5	19				
NTSR1	4923	broad.mit.edu	37	20	61340973	61340973	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61340973C>T	ENST00000370501.3	+	1	785	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	138					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTTCGGCGACGCCGGCTGCC	0.687																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(412-414)gaC>gaT		neurotensin receptor 1 (high affinity)							41.0	47.0	45.0					20																	61340973		2202	4299	6501	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340973C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.414C>T	20.37:g.61340973C>T							p.D138D	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	785	+	Breast(26;3.65e-08)		138					Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.414C>T	CCDS13502.1																																																																																				0.687	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			18	25	0	0	0	1	0	18	25				
ATAD3A	55210	broad.mit.edu	37	1	1459697	1459697	+	Silent	SNP	C	C	T	rs150316055		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1459697C>T	ENST00000378755.5	+	11	1372	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	ATAD3A_ENST00000536055.1_Silent_p.G299G|ATAD3A_ENST00000378756.3_Silent_p.G378G	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	426					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCATGACAGGCGGGGACGTGG	0.632													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22007	0.0		0.0	False		,,,				2504	0.0					ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1276-1278)ggC>ggT		ATPase family, AAA domain containing 3A		C	,,	0,4404		0,0,2202	77.0	60.0	66.0		1134,897,1278	-5.8	1.0	1	dbSNP_134	66	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	ATAD3A	NM_001170535.1,NM_001170536.1,NM_018188.3	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	378/587,299/508,426/635	1459697	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1459697C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1278C>T	1.37:g.1459697C>T						ATAD3A_ENST00000536055.1_Silent_p.G299G|ATAD3A_ENST00000378756.3_Silent_p.G378G	p.G426G	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	11	1372	+	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)	426					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Silent	SNP	ENST00000378755.5	37	c.1278C>T	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	9.263	1.043590	0.19748	0.0	2.33E-4	ENSG00000197785	ENST00000339113	.	.	.	4.94	-5.82	0.02333	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42865	-0.9426	4	.	.	.	.	3.2976	0.06971	0.1923:0.1463:0.1027:0.5588	.	.	.	.	W	364	.	.	R	+	1	2	ATAD3A	1449560	0.003000	0.15002	0.953000	0.39169	0.800000	0.45204	-1.305000	0.02738	-0.674000	0.05253	-0.265000	0.10407	CGG		0.632	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		5	45	0	0	0	1	0	5	45				
SBF1	6305	broad.mit.edu	37	22	50901733	50901733	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50901733A>G	ENST00000390679.3	-	16	2062	c.1878T>C	c.(1876-1878)cgT>cgC	p.R626R	SBF1_ENST00000380817.3_Silent_p.R626R|SBF1_ENST00000348911.6_Silent_p.R627R			O95248	MTMR5_HUMAN	SET binding factor 1	626					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTCATCATACGGACGACAA	0.627																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1876-1878)cgT>cgC		SET binding factor 1							45.0	46.0	46.0					22																	50901733		2119	4224	6343	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901733A>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1878T>C	22.37:g.50901733A>G						SBF1_ENST00000348911.6_Silent_p.R627R|SBF1_ENST00000390679.3_Silent_p.R626R	p.R626R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	16	2061	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	626					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.1878T>C																																																																																					0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				16	25	0	0	0	1	0	16	25				
N4BP3	23138	broad.mit.edu	37	5	177546594	177546594	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:177546594G>T	ENST00000274605.5	+	2	369	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	4						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCCACAGCCCCAGGCCC	0.642																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(10-12)Gcc>Tcc		NEDD4 binding protein 3							32.0	36.0	35.0					5																	177546594		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177546594G>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.10G>T	5.37:g.177546594G>T	ENSP00000274605:p.Ala4Ser						p.A4S	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	369	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	4					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.10G>T	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859862	0.51482	.	.	ENSG00000145911	ENST00000274605	T	0.00514	6.88	5.48	3.68	0.42216	.	0.641375	0.15738	N	0.247068	T	0.00412	0.0013	L	0.36672	1.1	0.27605	N	0.94885	B	0.23377	0.084	B	0.25759	0.063	T	0.29701	-1.0003	10	0.06625	T	0.88	-8.2614	10.2764	0.43512	0.1644:0.0:0.8356:0.0	.	4	O15049	N4BP3_HUMAN	S	4	ENSP00000274605:A4S	ENSP00000274605:A4S	A	+	1	0	N4BP3	177479200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.050000	0.49877	0.662000	0.31006	0.491000	0.48974	GCC		0.642	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		18	22	1	0	1.67942e-08	1	1.77343e-08	18	22				
PSMB3	5691	broad.mit.edu	37	17	36918698	36918698	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36918698C>T	ENST00000225426.4	+	5	600	c.509C>T	c.(508-510)gCc>gTc	p.A170V		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						ATCTCCCAAGCCATGCTGAAT	0.527																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(508-510)gCc>gTc		proteasome (prosome, macropain) subunit, beta type, 3							166.0	147.0	154.0					17																	36918698		2203	4300	6503	SO:0001583	missense	5691				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr17:36918698C>T	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.509C>T	17.37:g.36918698C>T	ENSP00000225426:p.Ala170Val						p.A170V	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			5	600	+			170					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.509C>T	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362743	0.95877	.	.	ENSG00000108294	ENST00000225426	T	0.56941	0.43	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.85945	2.785	0.80722	D	1	D	0.63046	0.992	P	0.56788	0.806	T	0.77770	-0.2463	10	0.87932	D	0	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	170	P49720	PSB3_HUMAN	V	170	ENSP00000225426:A170V	ENSP00000225426:A170V	A	+	2	0	PSMB3	34172224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.576000	0.86940	0.563000	0.77884	GCC		0.527	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		23	32	0	0	0	1	0	23	32				
ZNF648	127665	broad.mit.edu	37	1	182027061	182027061	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:182027061G>A	ENST00000339948.3	-	2	292	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCATGCTCAGCATCTGGGTG	0.587																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(85-87)Ctg>Ttg		zinc finger protein 648							91.0	84.0	86.0					1																	182027061		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182027061G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.85C>T	1.37:g.182027061G>A							p.L29L	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	292	-			29					B2RP16	Silent	SNP	ENST00000339948.3	37	c.85C>T	CCDS30952.1																																																																																				0.587	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		24	40	0	0	0	1	0	24	40				
ITGA9	3680	broad.mit.edu	37	3	37860417	37860417	+	Silent	SNP	C	C	T	rs142961075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37860417C>T	ENST00000264741.5	+	28	3301	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000608505.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000430620.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	1015					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AAGAAATTATCGAAGCTGAGA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18335	0.0		0.0	False		,,,				2504	0.0					ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(3043-3045)atC>atT		integrin, alpha 9		C		2,4404	4.2+/-10.8	0,2,2201	67.0	68.0	68.0		3045	-8.5	0.7	3	dbSNP_134	68	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	ITGA9	NM_002207.2		0,16,6487	TT,TC,CC		0.1628,0.0454,0.123		1015/1036	37860417	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37860417C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.3045C>T	3.37:g.37860417C>T						AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000438136.1_RNA	p.I1015I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	28	3301	+			1015					Q14638	Silent	SNP	ENST00000264741.5	37	c.3045C>T	CCDS2669.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.284	0.816181	0.16607	4.54E-4	0.001628	ENSG00000144668	ENST00000411817	.	.	.	6.17	-8.54	0.00912	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	21.0516	0.99944	0.0:0.7126:0.0:0.2874	.	.	.	.	X	49	.	.	R	+	1	2	ITGA9	37835421	0.027000	0.19231	0.654000	0.29608	0.922000	0.55478	-0.950000	0.03889	-1.656000	0.01495	-0.794000	0.03295	CGA		0.473	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		14	24	0	0	0	1	0	14	24				
PCDHA5	56143	broad.mit.edu	37	5	140201505	140201505	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140201505C>G	ENST00000529859.1	+	1	145	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q49E|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q49E|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCATCGCGCAGGACCTAGG	0.647																																						ENST00000529859.1																			1	Deletion - Frameshift(1)	p.Q49fs*50(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(145-147)Cag>Gag									57.0	66.0	63.0					5																	140201505		2203	4300	6503	SO:0001583	missense	0							g.chr5:140201505C>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.145C>G	5.37:g.140201505C>G	ENSP00000436557:p.Gln49Glu					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q49E|PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q49E|PCDHA2_ENST00000526136.1_Intron	p.Q49E	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	145	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.145C>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474316	0.43942	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.26810	1.71;1.71;1.71	4.01	4.01	0.46588	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39655	0.1086	L	0.52206	1.635	0.27701	N	0.945784	P;P;D	0.56287	0.713;0.82;0.975	B;P;P	0.58620	0.301;0.464;0.842	T	0.13019	-1.0525	9	0.42905	T	0.14	.	13.1573	0.59524	0.1602:0.8397:0.0:0.0	.	49;49;49	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	E	49	ENSP00000433416:Q49E;ENSP00000436557:Q49E;ENSP00000367366:Q49E	ENSP00000367366:Q49E	Q	+	1	0	PCDHA5	140181689	0.019000	0.18553	1.000000	0.80357	0.914000	0.54420	0.362000	0.20284	1.941000	0.56285	0.585000	0.79938	CAG		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		27	62	0	0	0	1	0	27	62				
PLEKHA4	57664	broad.mit.edu	37	19	49363689	49363689	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49363689C>T	ENST00000263265.6	-	6	949	c.394G>A	c.(394-396)Gtt>Att	p.V132I	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.V132I|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	132	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGGCCAAAACGTAGGTCCTC	0.652																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(394-396)Gtt>Att		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							58.0	58.0	58.0					19																	49363689		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363689C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.394G>A	19.37:g.49363689C>T	ENSP00000263265:p.Val132Ile					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.V132I	p.V132I	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	949	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	132			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.394G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601811	0.46423	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12465	2.68;2.68	4.46	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.294371	0.26075	N	0.026495	T	0.10465	0.0256	N	0.13327	0.33	0.31312	N	0.687074	P;P	0.44659	0.84;0.799	B;P	0.44696	0.225;0.458	T	0.04053	-1.0981	10	0.31617	T	0.26	.	12.8046	0.57605	0.0:1.0:0.0:0.0	.	132;132	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	I	132	ENSP00000263265:V132I;ENSP00000347683:V132I	ENSP00000263265:V132I	V	-	1	0	PLEKHA4	54055501	0.899000	0.30636	0.988000	0.46212	0.996000	0.88848	1.408000	0.34668	2.492000	0.84095	0.462000	0.41574	GTT		0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			26	30	0	0	0	1	0	26	30				
INPP4B	8821	broad.mit.edu	37	4	143003203	143003203	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:143003203C>T	ENST00000513000.1	-	26	3056	c.2623G>A	c.(2623-2625)Gcg>Acg	p.A875T	INPP4B_ENST00000262992.4_Missense_Mutation_p.A875T|INPP4B_ENST00000508116.1_Missense_Mutation_p.A875T|INPP4B_ENST00000308502.4_Missense_Mutation_p.A875T|INPP4B_ENST00000509777.1_Missense_Mutation_p.A875T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	875					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAATCCAGCGCTCGGATAAAG	0.343																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2623-2625)Gcg>Acg		inositol polyphosphate-4-phosphatase, type II, 105kDa							110.0	98.0	102.0					4																	143003203		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143003203C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2623G>A	4.37:g.143003203C>T	ENSP00000425487:p.Ala875Thr					INPP4B_ENST00000262992.4_Missense_Mutation_p.A875T|INPP4B_ENST00000509777.1_Missense_Mutation_p.A875T|INPP4B_ENST00000308502.4_Missense_Mutation_p.A875T|INPP4B_ENST00000508116.1_Missense_Mutation_p.A875T	p.A875T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			26	3056	-	all_hematologic(180;0.158)		875					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2623G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988338	0.93106	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777	T;T;T;T;T	0.28666	1.71;1.71;1.71;1.71;1.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42766	-0.9432	10	0.48119	T	0.1	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	875	O15327	INP4B_HUMAN	T	875	ENSP00000425487:A875T;ENSP00000262992:A875T;ENSP00000308441:A875T;ENSP00000423954:A875T;ENSP00000422793:A875T	ENSP00000262992:A875T	A	-	1	0	INPP4B	143222653	1.000000	0.71417	0.786000	0.31890	0.698000	0.40448	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	GCG		0.343	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		20	54	0	0	0	1	0	20	54				
CCR5	1234	broad.mit.edu	37	3	46414416	46414416	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46414416C>T	ENST00000292303.4	+	2	169	c.23C>T	c.(22-24)cCa>cTa	p.P8L	CCR5_ENST00000445772.1_Missense_Mutation_p.P8L|CCR5_ENST00000343801.4_Missense_Mutation_p.P8L|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	8					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTGTCAAGTCCAATCTATGAC	0.418																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(22-24)cCa>cTa		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						114.0	123.0	120.0					3																	46414416		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414416C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.23C>T	3.37:g.46414416C>T	ENSP00000292303:p.Pro8Leu					CCR5_ENST00000292303.4_Missense_Mutation_p.P8L|CCR5_ENST00000445772.1_Missense_Mutation_p.P8L|RP11-24F11.2_ENST00000451485.1_RNA	p.P8L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	380	+			8					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.23C>T	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343266	0.61073	.	.	ENSG00000160791	ENST00000343801;ENST00000292303;ENST00000445772	T;T;T	0.69175	-0.38;-0.38;-0.38	5.16	2.25	0.28309	.	1.344090	0.05398	U	0.540113	T	0.72614	0.3482	M	0.82630	2.6	0.09310	N	1	B	0.30937	0.301	B	0.38378	0.272	T	0.61739	-0.7001	10	0.59425	D	0.04	.	6.6519	0.22967	0.0:0.6917:0.1613:0.1469	.	8	P51681	CCR5_HUMAN	L	8	ENSP00000343985:P8L;ENSP00000292303:P8L;ENSP00000404881:P8L	ENSP00000292303:P8L	P	+	2	0	CCR5	46389420	0.012000	0.17670	0.006000	0.13384	0.722000	0.41435	2.019000	0.41001	1.104000	0.41587	0.561000	0.74099	CCA		0.418	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		38	84	0	0	0	1	0	38	84				
LILRA2	11027	broad.mit.edu	37	19	55085828	55085828	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55085828C>T	ENST00000251377.3	+	4	264	c.131C>T	c.(130-132)cCt>cTt	p.P44L	LILRA2_ENST00000251376.3_Missense_Mutation_p.P44L|LILRA2_ENST00000391738.3_Missense_Mutation_p.P44L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P32L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	44	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGGGAAGTCCTGTGACCCTC	0.547																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(130-132)cCt>cTt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							95.0	97.0	97.0					19																	55085828		2203	4300	6503	SO:0001583	missense	0							g.chr19:55085828C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.131C>T	19.37:g.55085828C>T	ENSP00000251377:p.Pro44Leu					LILRA2_ENST00000391738.3_Missense_Mutation_p.P44L|LILRA2_ENST00000391737.1_Missense_Mutation_p.P32L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P44L|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	p.P44L						GBM - Glioblastoma multiforme(193;0.0963)	4	264	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.131C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197304	0.38806	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00760	5.73;5.73;5.73;5.73;5.73	2.69	1.57	0.23409	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.579180	0.03702	N	0.248710	T	0.05318	0.0141	M	0.87827	2.91	0.09310	N	0.999999	B;P;D;D;D	0.89917	0.117;0.5;0.989;0.99;1.0	B;P;D;D;D	0.83275	0.067;0.61;0.937;0.916;0.996	T	0.20273	-1.0280	10	0.87932	D	0	.	6.0222	0.19634	0.0:0.8417:0.0:0.1583	.	44;44;32;44;44	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	L	44;44;44;44;32	ENSP00000388131:P44L;ENSP00000251377:P44L;ENSP00000375618:P44L;ENSP00000251376:P44L;ENSP00000375617:P32L	ENSP00000251376:P44L	P	+	2	0	LILRA2	59777640	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.954000	0.03873	0.432000	0.26286	0.508000	0.49915	CCT		0.547	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	34	0	0	0	1	0	28	34				
LOC202181	202181	broad.mit.edu	37	5	177059340	177059340	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:177059340C>A	ENST00000515045.1	-	0	588					NR_026921.1																						CTGAAGACAGCTGTAGACTTG	0.488																																						ENST00000515045.1																			0																																																			0							g.chr5:177059340C>A																													5.37:g.177059340C>A								NR_026921.1						0	588	-									RNA	SNP	ENST00000515045.1	37																																																																																						0.488	RP11-1277A3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373167.1			8	8	1	0	5.18039e-06	1	5.37127e-06	8	8				
PRKCQ	5588	broad.mit.edu	37	10	6527171	6527171	+	Missense_Mutation	SNP	G	G	A	rs560199230		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:6527171G>A	ENST00000263125.5	-	10	1060	c.961C>T	c.(961-963)Cca>Tca	p.P321S	PRKCQ_ENST00000397176.2_Missense_Mutation_p.P321S|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P196S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	321					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ATGGAGCATGGGAGACCAATT	0.488																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(961-963)Cca>Tca		protein kinase C, theta							171.0	163.0	166.0					10																	6527171		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6527171G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.961C>T	10.37:g.6527171G>A	ENSP00000263125:p.Pro321Ser					PRKCQ_ENST00000397176.2_Missense_Mutation_p.P321S|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P196S	p.P321S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			10	1060	-			321					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.961C>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	5.824	0.336336	0.11013	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.66995	-0.24;-0.19;-0.24	5.22	4.26	0.50523	.	0.153050	0.64402	D	0.000012	T	0.50752	0.1634	L	0.27053	0.805	0.53005	D	0.999961	B;P;B;P	0.37548	0.077;0.599;0.438;0.518	B;B;B;B	0.38985	0.071;0.206;0.287;0.172	T	0.46034	-0.9220	10	0.07813	T	0.8	.	13.2838	0.60230	0.0:0.0:0.8422:0.1578	.	196;93;321;321	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	S	321;321;196	ENSP00000263125:P321S;ENSP00000380361:P321S;ENSP00000441752:P196S	ENSP00000263125:P321S	P	-	1	0	PRKCQ	6567177	1.000000	0.71417	0.998000	0.56505	0.307000	0.27823	4.824000	0.62701	2.595000	0.87683	0.655000	0.94253	CCA		0.488	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		49	73	0	0	0	1	0	49	73				
CETP	1071	broad.mit.edu	37	16	57003379	57003379	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57003379C>T	ENST00000566128.1	+	3	387	c.120C>T	c.(118-120)aaC>aaT	p.N40N	CETP_ENST00000379780.2_Silent_p.N105N|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Silent_p.N105N					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCATTCAGAACGTGTCTGTGG	0.567																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(313-315)aaC>aaT		cholesteryl ester transfer protein, plasma							200.0	178.0	186.0					16																	57003379		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57003379C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.120C>T	16.37:g.57003379C>T						CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.N105N|CETP_ENST00000566128.1_Silent_p.N40N	p.N105N	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			3	445	+			105						Silent	SNP	ENST00000566128.1	37	c.315C>T																																																																																					0.567	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		29	46	0	0	0	1	0	29	46				
SENP7	57337	broad.mit.edu	37	3	101085438	101085438	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101085438G>T	ENST00000394095.2	-	9	1207	c.1154C>A	c.(1153-1155)gCc>gAc	p.A385D	SENP7_ENST00000394094.2_Missense_Mutation_p.A320D|SENP7_ENST00000394091.1_Missense_Mutation_p.A221D|SENP7_ENST00000358203.3_Missense_Mutation_p.A221D|SENP7_ENST00000348610.3_Missense_Mutation_p.A352D|SENP7_ENST00000314261.7_Missense_Mutation_p.A319D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	385						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCGGCAGAGGCACTTTTGGT	0.403																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1153-1155)gCc>gAc		SUMO1/sentrin specific peptidase 7							111.0	108.0	109.0					3																	101085438		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101085438G>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1154C>A	3.37:g.101085438G>T	ENSP00000377655:p.Ala385Asp					SENP7_ENST00000314261.7_Missense_Mutation_p.A319D|SENP7_ENST00000394091.1_Missense_Mutation_p.A221D|SENP7_ENST00000348610.3_Missense_Mutation_p.A352D|SENP7_ENST00000394094.2_Missense_Mutation_p.A320D|SENP7_ENST00000358203.3_Missense_Mutation_p.A221D	p.A385D	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			9	1207	-			385					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1154C>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469135	0.26423	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18960	2.18;2.19;2.19;2.19;2.19;2.18	5.77	3.88	0.44766	.	1.117470	0.06717	N	0.774252	T	0.15696	0.0378	L	0.36672	1.1	0.09310	N	1	P;B;B;B	0.37276	0.589;0.302;0.355;0.201	B;B;B;B	0.33521	0.086;0.165;0.115;0.08	T	0.15235	-1.0444	10	0.17832	T	0.49	1.1066	7.0345	0.24985	0.0865:0.0:0.7435:0.17	.	221;319;352;385	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	385;320;319;221;221;352	ENSP00000377655:A385D;ENSP00000377654:A320D;ENSP00000313624:A319D;ENSP00000377651:A221D;ENSP00000350936:A221D;ENSP00000342159:A352D	ENSP00000313624:A319D	A	-	2	0	SENP7	102568128	0.706000	0.27856	0.006000	0.13384	0.756000	0.42949	0.999000	0.29757	1.581000	0.49865	0.655000	0.94253	GCC		0.403	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		28	44	1	0	9.39395e-14	1	1.02212e-13	28	44				
HK3	3101	broad.mit.edu	37	5	176317707	176317707	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176317707C>A	ENST00000292432.5	-	6	650	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	187	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTAAAACCTTTGGTCCAG	0.607																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(559-561)Ggt>Tgt		hexokinase 3 (white cell)							185.0	182.0	183.0					5																	176317707		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317707C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.559G>T	5.37:g.176317707C>A	ENSP00000292432:p.Gly187Cys						p.G187C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	650	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	187			Glucose-binding (Potential).|Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.559G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399408	0.62177	.	.	ENSG00000160883	ENST00000292432	D	0.99259	-5.64	4.26	4.26	0.50523	Hexokinase, N-terminal (1);	0.000000	0.53938	D	0.000043	D	0.99309	0.9758	M	0.86502	2.82	0.33298	D	0.564386	D	0.61697	0.99	D	0.66847	0.947	D	0.99474	1.0946	10	0.87932	D	0	.	11.147	0.48436	0.0:0.9084:0.0:0.0916	.	187	P52790	HXK3_HUMAN	C	187	ENSP00000292432:G187C	ENSP00000292432:G187C	G	-	1	0	HK3	176250313	0.828000	0.29307	1.000000	0.80357	0.997000	0.91878	1.146000	0.31589	2.221000	0.72209	0.561000	0.74099	GGT		0.607	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			36	100	1	0	3.3946e-10	1	3.62385e-10	36	100				
TRIM42	287015	broad.mit.edu	37	3	140409974	140409974	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:140409974C>T	ENST00000286349.3	+	4	2216	c.2025C>T	c.(2023-2025)taC>taT	p.Y675Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	675	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACACAGAATACGTGTTTAAAG	0.423																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2023-2025)taC>taT		tripartite motif containing 42							152.0	147.0	149.0					3																	140409974		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140409974C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2025C>T	3.37:g.140409974C>T							p.Y675Y	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			4	2216	+			675			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.2025C>T	CCDS3113.1																																																																																				0.423	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		50	80	0	0	0	1	0	50	80				
SHISA2	387914	broad.mit.edu	37	13	26621051	26621051	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:26621051G>A	ENST00000319420.3	-	2	543	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	163					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CATGGGGATGGTCTCCATCAA	0.662																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(487-489)aCc>aTc		shisa family member 2							41.0	44.0	43.0					13																	26621051		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621051G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.488C>T	13.37:g.26621051G>A	ENSP00000313079:p.Thr163Ile						p.T163I	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	543	-			163					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.488C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700247	0.88924	.	.	ENSG00000180730	ENST00000319420	T	0.45668	0.89	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.64884	-0.6302	10	0.56958	D	0.05	-53.775	17.9632	0.89092	0.0:0.0:1.0:0.0	.	163	Q6UWI4	SHSA2_HUMAN	I	163	ENSP00000313079:T163I	ENSP00000313079:T163I	T	-	2	0	SHISA2	25519051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.800000	0.99124	2.235000	0.73313	0.557000	0.71058	ACC		0.662	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		15	26	0	0	0	1	0	15	26				
UACA	55075	broad.mit.edu	37	15	70979979	70979979	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:70979979G>A	ENST00000322954.6	-	7	687	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	UACA_ENST00000560441.1_Missense_Mutation_p.R155W|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.R155W	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	168					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGTGGTGTCCGCCCGTCCTAA	0.393																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(502-504)Cgg>Tgg		uveal autoantigen with coiled-coil domains and ankyrin repeats							73.0	69.0	71.0					15																	70979979		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70979979G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.502C>T	15.37:g.70979979G>A	ENSP00000314556:p.Arg168Trp					UACA_ENST00000560441.1_Missense_Mutation_p.R155W|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.R155W	p.R168W	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			7	687	-			168					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.502C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200920	0.79015	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	T;T	0.66638	-0.22;-0.22	5.82	5.82	0.92795	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000117	T	0.76212	0.3956	L	0.45470	1.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77140	-0.2697	10	0.72032	D	0.01	-22.1923	13.0699	0.59055	0.0:0.0:0.7345:0.2655	.	168;168;155	B7ZKM6;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	W	168;155;155	ENSP00000314556:R168W;ENSP00000369319:R155W	ENSP00000314556:R168W	R	-	1	2	UACA	68767033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.763000	0.55257	2.756000	0.94617	0.563000	0.77884	CGG		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			29	52	0	0	0	1	0	29	52				
NBAS	51594	broad.mit.edu	37	2	15372584	15372584	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15372584T>A	ENST00000281513.5	-	47	6223	c.6198A>T	c.(6196-6198)gaA>gaT	p.E2066D	NBAS_ENST00000441750.1_Missense_Mutation_p.E1946D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2066					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAACAACACCTTCCAGGACCT	0.478																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6196-6198)gaA>gaT		neuroblastoma amplified sequence							109.0	84.0	92.0					2																	15372584		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15372584T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6198A>T	2.37:g.15372584T>A	ENSP00000281513:p.Glu2066Asp					NBAS_ENST00000441750.1_Missense_Mutation_p.E1946D	p.E2066D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			47	6223	-			2066					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6198A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.08|10.08	1.252443|1.252443	0.22880|0.22880	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461|ENST00000442506	T;T;T|.	0.55930|.	1.37;1.37;0.49|.	5.67|5.67	3.17|3.17	0.36434|0.36434	.|.	0.088658|.	0.85682|.	D|.	0.000000|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.51422|0.51422	1.61|1.61	0.46874|0.46874	D|D	0.999239|0.999239	P;P|.	0.45474|.	0.859;0.636|.	B;B|.	0.43728|.	0.429;0.178|.	T|T	0.52563|0.52563	-0.8559|-0.8559	10|5	0.87932|.	D|.	0|.	.|.	5.2009|5.2009	0.15264|0.15264	0.1386:0.1431:0.0:0.7182|0.1386:0.1431:0.0:0.7182	.|.	1946;2066|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	D|M	1946;2066;158|1114	ENSP00000413201:E1946D;ENSP00000281513:E2066D;ENSP00000392421:E158D|.	ENSP00000281513:E2066D|.	E|K	-|-	3|2	2|0	NBAS|NBAS	15290035|15290035	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.285000|0.285000	0.27093|0.27093	1.183000|1.183000	0.32041|0.32041	2.159000|2.159000	0.67721|0.67721	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		19	24	0	0	0	1	0	19	24				
GALNT10	55568	broad.mit.edu	37	5	153760106	153760106	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153760106C>T	ENST00000297107.6	+	6	990	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R285W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R223W|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	285					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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGATGCCATGCGGGGAGCCTT	0.532																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(853-855)Cgg>Tgg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							147.0	138.0	141.0					5																	153760106		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760106C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.853C>T	5.37:g.153760106C>T	ENSP00000297107:p.Arg285Trp					GALNT10_ENST00000425427.2_Missense_Mutation_p.R285W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R223W|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	p.R285W	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	990	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	285					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.853C>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120638	0.77323	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.08	5.59	3.68	0.42216	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81311	-0.0990	10	0.49607	T	0.09	.	13.2401	0.59992	0.4101:0.5899:0.0:0.0	.	223;285;285	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	W	285;285;223	ENSP00000415210:R285W;ENSP00000297107:R285W;ENSP00000366889:R223W	ENSP00000297107:R285W	R	+	1	2	GALNT10	153740299	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.305000	0.43664	1.343000	0.45638	0.462000	0.41574	CGG		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		27	55	0	0	0	1	0	27	55				
THUMPD3	25917	broad.mit.edu	37	3	9406772	9406772	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9406772C>T	ENST00000345094.3	+	2	354	c.20C>T	c.(19-21)gCc>gTc	p.A7V	RP11-380O24.1_ENST00000466431.2_RNA|RP11-380O24.1_ENST00000491930.2_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.A7V|RP11-380O24.1_ENST00000517687.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.A7V|RP11-380O24.1_ENST00000517846.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	7						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATTGAAGAAGCCACTAACCAA	0.408																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(19-21)gCc>gTc		THUMP domain containing 3							98.0	98.0	98.0					3																	9406772		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9406772C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.20C>T	3.37:g.9406772C>T	ENSP00000339532:p.Ala7Val					THUMPD3_ENST00000515662.2_Missense_Mutation_p.A7V|THUMPD3_ENST00000452837.2_Missense_Mutation_p.A7V|SETD5-AS1_ENST00000468186.1_RNA	p.A7V	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	2	354	+	Medulloblastoma(99;0.227)		7					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.20C>T	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970518	0.53614	.	.	ENSG00000134077	ENST00000452837;ENST00000417036;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.52983	0.64;0.64;0.64	5.57	5.57	0.84162	.	0.356801	0.28921	N	0.013706	T	0.32823	0.0842	L	0.27053	0.805	0.30965	N	0.723211	B	0.29909	0.261	B	0.21546	0.035	T	0.31668	-0.9935	10	0.33940	T	0.23	-2.9812	12.0968	0.53758	0.0:0.92:0.0:0.08	.	7	Q9BV44	THUM3_HUMAN	V	7	ENSP00000395893:A7V;ENSP00000339532:A7V;ENSP00000424064:A7V	ENSP00000339532:A7V	A	+	2	0	THUMPD3	9381772	0.989000	0.36119	0.985000	0.45067	0.623000	0.37688	2.837000	0.48191	2.785000	0.95823	0.655000	0.94253	GCC		0.408	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		19	51	0	0	0	1	0	19	51				
PRSS23	11098	broad.mit.edu	37	11	86519563	86519563	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:86519563G>A	ENST00000280258.5	+	2	1303	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PRSS23_ENST00000441050.1_Missense_Mutation_p.R261H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	293						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R293H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGTGTATCGCTTCTGTGAC	0.537																																						ENST00000280258.5																			1	Substitution - Missense(1)	p.R293H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(877-879)cGc>cAc		protease, serine, 23							101.0	103.0	102.0					11																	86519563		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519563G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.878G>A	11.37:g.86519563G>A	ENSP00000280258:p.Arg293His					PRSS23_ENST00000441050.1_Missense_Mutation_p.R261H|PRSS23_ENST00000533902.2_Intron	p.R293H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	1303	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	293					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.878G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964155	0.92791	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.43294	0.95;0.95	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72714	-0.4210	9	.	.	.	-27.4484	20.8794	0.99867	0.0:0.0:1.0:0.0	.	261;293	B4E2J3;O95084	.;PRS23_HUMAN	H	293;261	ENSP00000280258:R293H;ENSP00000393015:R261H	.	R	+	2	0	PRSS23	86197211	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	CGC		0.537	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		12	63	0	0	0	1	0	12	63				
SP110	3431	broad.mit.edu	37	2	231076266	231076266	+	Missense_Mutation	SNP	C	C	T	rs200816727		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231076266C>T	ENST00000358662.4	-	6	748	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	SP110_ENST00000392048.3_Missense_Mutation_p.A224T|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258382.5_Missense_Mutation_p.A224T|SP110_ENST00000540870.1_Missense_Mutation_p.A230T|SP110_ENST00000258381.6_Missense_Mutation_p.A224T	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	224					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTGTCACTGGCCACTGAATGG	0.448																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(670-672)Gcc>Acc		SP110 nuclear body protein		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	96.0	99.0	98.0		670,670,670,688	-2.7	0.0	2		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SP110	NM_080424.2,NM_004510.3,NM_004509.3,NM_001185015.1	58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	224/714,224/550,224/690,230/556	231076266	1,13005	2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231076266C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.670G>A	2.37:g.231076266C>T	ENSP00000351488:p.Ala224Thr					SP110_ENST00000392048.3_Missense_Mutation_p.A224T|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Missense_Mutation_p.A230T|SP110_ENST00000358662.4_Missense_Mutation_p.A224T|SP110_ENST00000258382.5_Missense_Mutation_p.A224T	p.A224T	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	6	747	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	224					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.670G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769968	0.31320	0.0	1.16E-4	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	2.65	-2.71	0.05986	.	.	.	.	.	T	0.05090	0.0136	N	0.22421	0.69	0.22866	N	0.998633	B;B;B;B	0.19331	0.025;0.025;0.035;0.025	B;B;B;B	0.17098	0.006;0.006;0.017;0.006	T	0.45833	-0.9234	9	0.11794	T	0.64	.	3.6114	0.08062	0.2963:0.2023:0.0:0.5014	.	224;230;224;224	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	T	224;224;224;224;230	ENSP00000258381:A224T;ENSP00000351488:A224T;ENSP00000375902:A224T;ENSP00000258382:A224T;ENSP00000439558:A230T	ENSP00000258381:A224T	A	-	1	0	SP110	230784510	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.242000	0.08928	-0.588000	0.05882	-0.457000	0.05445	GCC		0.448	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		17	28	0	0	0	1	0	17	28				
COPS8	10920	broad.mit.edu	37	2	238002835	238002835	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238002835T>C	ENST00000354371.2	+	5	1087	c.434T>C	c.(433-435)gTg>gCg	p.V145A	COPS8_ENST00000409629.1_Missense_Mutation_p.V145A|COPS8_ENST00000392008.2_Missense_Mutation_p.V96A|COPS8_ENST00000409334.1_Intron	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	145	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GAAGAGGCTGTGAAAGGTAAT	0.418																																						ENST00000354371.2																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(433-435)gTg>gCg		COP9 signalosome subunit 8							121.0	108.0	112.0					2																	238002835		2203	4300	6503	SO:0001583	missense	10920				cullin deneddylation	cytoplasm|signalosome		g.chr2:238002835T>C		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.434T>C	2.37:g.238002835T>C	ENSP00000346340:p.Val145Ala					COPS8_ENST00000409629.1_Missense_Mutation_p.V145A|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000392008.2_Missense_Mutation_p.V96A	p.V145A	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	5	1087	+		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)	145			PCI.		A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	c.434T>C	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660303	0.47572	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409629	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.41492	1.28	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12156	0.007;0.007	T	0.46707	-0.9172	9	0.10902	T	0.67	.	14.4226	0.67193	0.0:0.0:0.0:1.0	.	145;145	B8ZZP3;Q99627	.;CSN8_HUMAN	A	145;96;145	.	ENSP00000346340:V145A	V	+	2	0	COPS8	237667574	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.382000	0.79729	1.997000	0.58415	0.482000	0.46254	GTG		0.418	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710		27	50	0	0	0	1	0	27	50				
SLC6A5	9152	broad.mit.edu	37	11	20652239	20652239	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:20652239A>G	ENST00000525748.1	+	10	1775	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	501					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTTCCAGGGACACTCTAATT	0.502																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1501-1503)gAc>gGc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						203.0	179.0	187.0					11																	20652239		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652239A>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1502A>G	11.37:g.20652239A>G	ENSP00000434364:p.Asp501Gly					SLC6A5_ENST00000528440.1_3'UTR	p.D501G	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1775	+			501					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1502A>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800099	0.90538	.	.	ENSG00000165970	ENST00000525748	T	0.80393	-1.37	5.57	5.57	0.84162	.	0.084186	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94798	0.7968	10	0.87932	D	0	.	15.7239	0.77736	1.0:0.0:0.0:0.0	.	501	Q9Y345	SC6A5_HUMAN	G	501	ENSP00000434364:D501G	ENSP00000434364:D501G	D	+	2	0	SLC6A5	20608815	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.339000	0.96797	2.116000	0.64780	0.533000	0.62120	GAC		0.502	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		13	56	0	0	0	1	0	13	56				
IGKV1-9	28941	broad.mit.edu	37	2	89309530	89309530	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:89309530C>T	ENST00000493819.1	-	0	357									immunoglobulin kappa variable 1-9																		CTTCAGGCTGCAGGCTGCTGA	0.478																																						ENST00000493819.1																			0																				124.0	120.0	121.0					2																	89309530		1846	4079	5925			0							g.chr2:89309530C>T	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309530C>T														0	357	-									RNA	SNP	ENST00000493819.1	37																																																																																						0.478	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		53	87	0	0	0	1	0	53	87				
ITGAL	3683	broad.mit.edu	37	16	30506132	30506132	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30506132G>A	ENST00000356798.6	+	13	1644	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	ITGAL_ENST00000358164.5_Silent_p.E405E|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	488					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCTATGGGGAGCAGAGAGGAG	0.587																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1462-1464)gaG>gaA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						97.0	94.0	95.0					16																	30506132		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30506132G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1464G>A	16.37:g.30506132G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.E405E|ITGAL_ENST00000568012.1_3'UTR	p.E488E	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			13	1644	+			488					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1464G>A	CCDS32433.1																																																																																				0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			17	30	0	0	0	1	0	17	30				
IL10	3586	broad.mit.edu	37	1	206944258	206944258	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206944258C>T	ENST00000423557.1	-	3	430	c.372G>A	c.(370-372)cgG>cgA	p.R124R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	124					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTACACAGCGCCGTAGCCTCA	0.547																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(370-372)cgG>cgA		interleukin 10							130.0	124.0	126.0					1																	206944258		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944258C>T	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.372G>A	1.37:g.206944258C>T						IL10_ENST00000471071.1_5'UTR	p.R124R	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	430	-	Breast(84;0.183)		124						Silent	SNP	ENST00000423557.1	37	c.372G>A	CCDS1467.1																																																																																				0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		17	26	0	0	0	1	0	17	26				
CAPN3	825	broad.mit.edu	37	15	42681141	42681141	+	Silent	SNP	C	C	T	rs138846390		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42681141C>T	ENST00000397163.3	+	5	867	c.648C>T	c.(646-648)taC>taT	p.Y216Y	CAPN3_ENST00000318023.7_Silent_p.Y216Y|CAPN3_ENST00000356316.3_Silent_p.Y129Y|CAPN3_ENST00000349748.3_Silent_p.Y216Y|CAPN3_ENST00000357568.3_Silent_p.Y216Y|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	216	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGGTTCCTACGAAGCTCTGA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0					ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(646-648)taC>taT		calpain 3, (p94)							117.0	118.0	118.0					15																	42681141		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681141C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.648C>T	15.37:g.42681141C>T						RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.Y216Y|CAPN3_ENST00000318023.7_Silent_p.Y216Y|CAPN3_ENST00000349748.3_Silent_p.Y216Y|CAPN3_ENST00000356316.3_Silent_p.Y129Y	p.Y216Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	867	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	216		Missing (in LGMD2A).	Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.648C>T	CCDS45245.1																																																																																				0.512	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			13	71	0	0	0	1	0	13	71				
GCN1L1	10985	broad.mit.edu	37	12	120569761	120569761	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120569761C>T	ENST00000300648.6	-	54	7395	c.7383G>A	c.(7381-7383)gaG>gaA	p.E2461E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2461					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCACTAAGCTCCTCTTCAG	0.582																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7381-7383)gaG>gaA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							63.0	65.0	64.0					12																	120569761		2000	4175	6175	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120569761C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7383G>A	12.37:g.120569761C>T							p.E2461E	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			54	7395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2461					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7383G>A	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	12	0	0	0	1	0	6	12				
TICAM2	353376	broad.mit.edu	37	5	114916571	114916571	+	Missense_Mutation	SNP	G	G	T	rs368079506		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114916571G>T	ENST00000427199.2	-	2	824	c.383C>A	c.(382-384)gCt>gAt	p.A128D	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.A297D|TICAM2_ENST00000513729.1_5'Flank|TICAM2_ENST00000408996.4_Missense_Mutation_p.A297D	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	128	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		CCCATTTACAGCATCATCTAA	0.388																																						ENST00000408996.4																			0				cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5						c.(889-891)gCt>gAt		toll-like receptor adaptor molecule 2							93.0	94.0	94.0					5																	114916571		2202	4300	6502	SO:0001583	missense	353376							g.chr5:114916571G>T	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.383C>A	5.37:g.114916571G>T	ENSP00000415139:p.Ala128Asp					TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.A297D|TICAM2_ENST00000427199.2_Missense_Mutation_p.A128D	p.A297D	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1				OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)	4	1276	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)						B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.890C>A	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674017	0.67928	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.26223	1.75;1.75;1.75	5.74	5.74	0.90152	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.56097	D	0.000032	T	0.50103	0.1596	M	0.62723	1.935	0.48040	D	0.999575	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.47355	-0.9124	10	0.87932	D	0	.	16.845	0.85978	0.0:0.0:1.0:0.0	.	297;128	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	D	297;128;297	ENSP00000386341:A297D;ENSP00000415139:A128D;ENSP00000282382:A297D	ENSP00000415139:A128D	A	-	2	0	TICAM2;TMED7-TICAM2	114944470	0.998000	0.40836	0.306000	0.25113	0.339000	0.28857	3.325000	0.52030	2.708000	0.92522	0.585000	0.79938	GCT		0.388	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		5	59	1	0	1.024e-07	1	1.07677e-07	5	59				
PPAN	56342	broad.mit.edu	37	19	10220804	10220804	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10220804C>T	ENST00000253107.7	+	8	810	c.704C>T	c.(703-705)gCg>gTg	p.A235V	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.A235V|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A235V|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.A182V|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.A235V	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	235	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CACAGGGGCGCGGGGCTGTCG	0.687																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(703-705)gCg>gTg									22.0	28.0	26.0					19																	10220804		2201	4298	6499	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220804C>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.704C>T	19.37:g.10220804C>T	ENSP00000253107:p.Ala235Val					PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A235V|PPAN_ENST00000393793.1_Missense_Mutation_p.A182V|PPAN_ENST00000556468.1_Missense_Mutation_p.A235V|PPAN_ENST00000253107.7_Missense_Mutation_p.A235V	p.A235V	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		8	876	+			235			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.704C>T	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469835	0.26423	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T	0.64618	1.35;-0.11;1.37;-0.11;1.39	5.01	3.97	0.46021	Brix domain (3);	.	.	.	.	T	0.44138	0.1279	L	0.31420	0.93	0.33872	D	0.635097	B;B;B	0.34399	0.452;0.162;0.162	B;B;B	0.26310	0.055;0.04;0.068	T	0.54118	-0.8341	9	0.33141	T	0.24	-14.7643	8.8147	0.34989	0.0:0.8127:0.0:0.1873	.	235;235;235	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	V	235;235;235;235;235;182;173	ENSP00000411918:A235V;ENSP00000377385:A235V;ENSP00000253107:A235V;ENSP00000450710:A235V;ENSP00000377382:A182V	ENSP00000253107:A235V	A	+	2	0	PPAN;PPAN-P2RY11	10081804	0.608000	0.26966	0.411000	0.26484	0.037000	0.13140	1.856000	0.39389	1.081000	0.41110	0.561000	0.74099	GCG		0.687	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		12	20	0	0	0	1	0	12	20				
CCDC88C	440193	broad.mit.edu	37	14	91770187	91770187	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:91770187C>T	ENST00000389857.6	-	20	3579	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1165					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCAGGGCCTCGTAGGCCGCT	0.642																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3493-3495)Gag>Aag		coiled-coil domain containing 88C							62.0	69.0	67.0					14																	91770187		2159	4261	6420	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770187C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3493G>A	14.37:g.91770187C>T	ENSP00000374507:p.Glu1165Lys						p.E1165K	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			20	3579	-		all_cancers(154;0.0468)	1165					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3493G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643101	0.87859	.	.	ENSG00000015133	ENST00000389857	T	0.17213	2.29	5.52	4.63	0.57726	.	0.131508	0.33364	U	0.004990	T	0.24967	0.0606	M	0.80422	2.495	0.80722	D	1	P	0.43094	0.799	B	0.36567	0.228	T	0.24977	-1.0145	10	0.72032	D	0.01	-30.8186	16.4913	0.84201	0.0:0.8628:0.1372:0.0	.	1165	Q9P219	DAPLE_HUMAN	K	1165	ENSP00000374507:E1165K	ENSP00000374507:E1165K	E	-	1	0	CCDC88C	90839940	0.216000	0.23585	0.992000	0.48379	0.939000	0.58152	1.430000	0.34914	1.459000	0.47892	0.561000	0.74099	GAG		0.642	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		18	24	0	0	0	1	0	18	24				
ARHGEF17	9828	broad.mit.edu	37	11	73076578	73076578	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73076578C>T	ENST00000263674.3	+	19	6044	c.5694C>T	c.(5692-5694)gaC>gaT	p.D1898D		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1898					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGAAGTAGACGTCACTCCTC	0.582																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5692-5694)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 17							150.0	112.0	125.0					11																	73076578		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076578C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5694C>T	11.37:g.73076578C>T							p.D1898D	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			19	6044	+			1898					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.5694C>T	CCDS8221.1																																																																																				0.582	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	24	0	0	0	1	0	17	24				
S100A16	140576	broad.mit.edu	37	1	153580145	153580145	+	Silent	SNP	C	C	T	rs144537408		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:153580145C>T	ENST00000368704.1	-	3	362	c.177G>A	c.(175-177)gcG>gcA	p.A59A	S100A16_ENST00000368705.2_Silent_p.A59A|S100A16_ENST00000368703.2_Silent_p.A59A|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.A59A			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	59	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGCTTATCCGCAGCCTTCC	0.592																																					Melanoma(71;1388 1729 37039 46098)	ENST00000368704.1																			0				breast(1)|large_intestine(1)|prostate(1)	3						c.(175-177)gcG>gcA		S100 calcium binding protein A16		C		1,4405	2.1+/-5.4	0,1,2202	83.0	75.0	77.0		177	-8.8	0.0	1	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	S100A16	NM_080388.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		59/104	153580145	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140576					cytosol|nucleolus	calcium ion binding|protein homodimerization activity	g.chr1:153580145C>T	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.177G>A	1.37:g.153580145C>T						S100A16_ENST00000368703.2_Silent_p.A59A|S100A16_ENST00000368706.4_Silent_p.A59A|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Silent_p.A59A	p.A59A			Q96FQ6	S10AG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	362	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		59			EF-hand 2.		A8K439|D3DV52|Q5RHS6	Silent	SNP	ENST00000368704.1	37	c.177G>A	CCDS1045.1																																																																																				0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037713.1	NM_080388		23	23	0	0	0	1	0	23	23				
DAGLA	747	broad.mit.edu	37	11	61496403	61496403	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61496403G>A	ENST00000257215.5	+	8	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	258					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGTCTTACAGGCAAACAATGA	0.577																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.e8-1		diacylglycerol lipase, alpha							208.0	157.0	175.0					11																	61496403		2202	4299	6501	SO:0001630	splice_region_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61496403G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.772-1G>A	11.37:g.61496403G>A							p.A258_splice	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	8	888	+			258					A7E233|Q6WQJ0	Splice_Site	SNP	ENST00000257215.5	37	c.771_splice	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359526	0.82353	.	.	ENSG00000134780	ENST00000257215	T	0.24151	1.87	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.13282	-1.0515	9	.	.	.	-20.1372	17.9315	0.88998	0.0:0.0:1.0:0.0	.	258	Q9Y4D2	DGLA_HUMAN	T	258	ENSP00000257215:A258T	.	A	+	1	0	DAGLA	61252979	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.549000	0.82163	2.281000	0.76405	0.555000	0.69702	GCA		0.577	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	Missense_Mutation	12	22	0	0	0	1	0	12	22				
CBFA2T2	9139	broad.mit.edu	37	20	32211077	32211077	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32211077A>G	ENST00000346541.3	+	6	1231	c.694A>G	c.(694-696)Aat>Gat	p.N232D	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N232D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N203D|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N223D|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N242D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	232					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGTGCACGGAAATGGGAAGAG	0.552																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(694-696)Aat>Gat		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							123.0	119.0	120.0					20																	32211077		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32211077A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.694A>G	20.37:g.32211077A>G	ENSP00000262653:p.Asn232Asp					CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N242D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N232D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N203D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N203D|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N223D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N203D	p.N232D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			6	1231	+			232					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.694A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872307	0.72180	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.81;1.39	6.02	6.02	0.97574	.	0.192961	0.56097	D	0.000038	T	0.47728	0.1461	M	0.64404	1.975	0.80722	D	1	P;P	0.39250	0.665;0.545	B;B	0.35114	0.157;0.196	T	0.53690	-0.8403	10	0.72032	D	0.01	-14.4014	16.5494	0.84464	1.0:0.0:0.0:0.0	.	232;223	O43439;F8W6D7	MTG8R_HUMAN;.	D	6;232;223;203;232;203;203;242	ENSP00000364428:N232D;ENSP00000345810:N223D;ENSP00000262653:N232D;ENSP00000380902:N203D;ENSP00000352622:N242D	ENSP00000345810:N223D	N	+	1	0	CBFA2T2	31674738	0.689000	0.27690	0.984000	0.44739	0.573000	0.36030	2.820000	0.48057	2.299000	0.77371	0.528000	0.53228	AAT		0.552	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		11	18	0	0	0	1	0	11	18				
CREBBP	1387	broad.mit.edu	37	16	3779041	3779041	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3779041G>A	ENST00000262367.5	-	31	6816	c.6007C>T	c.(6007-6009)Ccc>Tcc	p.P2003S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1965S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2003					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGTCGGGGCACATTCAGG	0.697			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6007-6009)Ccc>Tcc		CREB binding protein							15.0	16.0	16.0					16																	3779041		2188	4288	6476	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779041G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6007C>T	16.37:g.3779041G>A	ENSP00000262367:p.Pro2003Ser					CREBBP_ENST00000382070.3_Missense_Mutation_p.P1965S	p.P2003S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6816	-		Ovarian(90;0.0266)	2003					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6007C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	5.491	0.275520	0.10403	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83591	-1.74;-1.66	5.11	4.13	0.48395	.	0.083425	0.51477	D	0.000091	T	0.72755	0.3500	L	0.29908	0.895	0.51482	D	0.999924	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68458	-0.5403	10	0.62326	D	0.03	-6.5841	9.2847	0.37749	0.0827:0.1447:0.7726:0.0	.	2033;2003	Q4LE28;Q92793	.;CBP_HUMAN	S	2003;2033;1965;538	ENSP00000262367:P2003S;ENSP00000371502:P1965S	ENSP00000262367:P2003S	P	-	1	0	CREBBP	3719042	1.000000	0.71417	0.997000	0.53966	0.587000	0.36485	4.444000	0.60001	1.114000	0.41781	0.655000	0.94253	CCC		0.697	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	6	0	0	0	1	0	6	6				
PKP2	5318	broad.mit.edu	37	12	33031411	33031411	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:33031411A>G	ENST00000070846.6	-	3	427	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	PKP2_ENST00000340811.4_Missense_Mutation_p.S135P	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	135					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCCACGGACTTCTGGGAG	0.532																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(403-405)Tcc>Ccc		plakophilin 2							192.0	195.0	194.0					12																	33031411		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031411A>G	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.403T>C	12.37:g.33031411A>G	ENSP00000070846:p.Ser135Pro					PKP2_ENST00000070846.6_Missense_Mutation_p.S135P	p.S135P	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	511	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		135					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.403T>C	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933482	0.52866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.83591	-1.74;-1.72	4.76	4.76	0.60689	.	0.664574	0.13228	N	0.403874	D	0.82870	0.5131	M	0.61703	1.905	0.39627	D	0.970122	D;P;D	0.54397	0.958;0.93;0.966	P;B;P	0.50440	0.571;0.368;0.641	T	0.80924	-0.1165	10	0.38643	T	0.18	-3.7797	5.7898	0.18353	0.6645:0.171:0.0:0.1645	.	135;135;135	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	P	135	ENSP00000342800:S135P;ENSP00000070846:S135P	ENSP00000070846:S135P	S	-	1	0	PKP2	32922678	1.000000	0.71417	0.988000	0.46212	0.717000	0.41224	2.529000	0.45632	1.770000	0.52166	0.529000	0.55759	TCC		0.532	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		5	185	0	0	0	1	0	5	185				
ANKRD27	84079	broad.mit.edu	37	19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(451-453)Cga>Tga		ankyrin repeat domain 27 (VPS9 domain)							271.0	271.0	271.0					19																	33135305		2203	4300	6503	SO:0001587	stop_gained	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135305G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.451C>T	19.37:g.33135305G>A	ENSP00000304292:p.Arg151*					ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	p.R151*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			5	609	-	Esophageal squamous(110;0.137)		151					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	c.451C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903422	0.92035	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.61	3.46	0.39613	.	0.349077	0.26362	N	0.024811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2186	12.4471	0.55657	0.0:0.0:0.2771:0.7229	.	.	.	.	X	151	.	ENSP00000304292:R151X	R	-	1	2	ANKRD27	37827145	1.000000	0.71417	0.221000	0.23827	0.277000	0.26821	3.326000	0.52037	0.398000	0.25338	-0.538000	0.04264	CGA		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		55	214	0	0	0	1	0	55	214				
MVP	9961	broad.mit.edu	37	16	29853338	29853338	+	Silent	SNP	G	G	A	rs578151102		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29853338G>A	ENST00000357402.5	+	10	1677	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A	MVP_ENST00000395353.1_Silent_p.A513A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	513					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCCGCCGTGCGCTCTGCCTGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17876	0.0		0.0	False		,,,				2504	0.001					ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1537-1539)gcG>gcA		major vault protein							33.0	34.0	34.0					16																	29853338		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853338G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1539G>A	16.37:g.29853338G>A						MVP_ENST00000395353.1_Silent_p.A513A	p.A513A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			10	1677	+			513					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1539G>A	CCDS10656.1																																																																																				0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		17	18	0	0	0	1	0	17	18				
KRT10	3858	broad.mit.edu	37	17	38975947	38975947	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38975947G>A	ENST00000269576.5	-	6	1204	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	399	Coil 2.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACACAGTAGCGACCTTCTGTT	0.468																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(1195-1197)Cgc>Tgc		keratin 10							93.0	87.0	89.0					17																	38975947		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975947G>A	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1195C>T	17.37:g.38975947G>A	ENSP00000269576:p.Arg399Cys					TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	p.R399C	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			6	1204	-		Breast(137;0.000301)	399			Coil 2.|Gly-rich.|Rod.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1195C>T	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452456	0.84209	.	.	ENSG00000186395	ENST00000269576	D	0.84730	-1.89	5.75	4.78	0.61160	Filament (1);	0.000000	0.36740	N	0.002424	D	0.91466	0.7306	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.92253	0.5810	10	0.87932	D	0	.	12.7021	0.57038	0.0:0.1926:0.6912:0.1162	.	399	P13645	K1C10_HUMAN	C	399	ENSP00000269576:R399C	ENSP00000269576:R399C	R	-	1	0	KRT10	36229473	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	3.610000	0.54125	1.431000	0.47355	0.655000	0.94253	CGC		0.468	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	52	0	0	0	1	0	7	52				
ACIN1	22985	broad.mit.edu	37	14	23528662	23528662	+	Missense_Mutation	SNP	G	G	A	rs553152810		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23528662G>A	ENST00000262710.1	-	19	4048	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	ACIN1_ENST00000397341.3_Missense_Mutation_p.R483W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1183W|CDH24_ENST00000397359.3_5'Flank|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R514W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1228W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R483W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R482W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1201W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1241	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGTTCGGCCCGCTCTGCCTCT	0.592																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3721-3723)Cgg>Tgg		apoptotic chromatin condensation inducer 1							83.0	74.0	77.0					14																	23528662		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528662G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3721C>T	14.37:g.23528662G>A	ENSP00000262710:p.Arg1241Trp					ACIN1_ENST00000338631.6_Missense_Mutation_p.R514W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R483W|ACIN1_ENST00000557515.1_Missense_Mutation_p.R482W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1183W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1201W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R483W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1228W	p.R1241W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4048	-	all_cancers(95;1.36e-05)		1241			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3721C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265492	0.40095	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.18	3.26	0.37387	.	0.667620	0.12407	N	0.471607	T	0.55081	0.1898	L	0.49126	1.545	0.48571	D	0.999671	D;D;D;D;D	0.76494	0.997;0.995;0.995;0.999;0.999	P;B;P;D;D	0.66196	0.616;0.412;0.535;0.942;0.942	T	0.53251	-0.8465	10	0.87932	D	0	-4.5308	10.1473	0.42771	0.0:0.0:0.5082:0.4917	.	1228;1241;1201;514;483	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	482;514;483;1241;1201;483;1228	ENSP00000451138:R482W;ENSP00000345541:R514W;ENSP00000350073:R483W;ENSP00000262710:R1241W;ENSP00000405677:R1201W;ENSP00000380502:R483W;ENSP00000451328:R1228W	ENSP00000262710:R1241W	R	-	1	2	ACIN1	22598502	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.941000	0.29005	1.071000	0.40834	0.462000	0.41574	CGG		0.592	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		24	29	0	0	0	1	0	24	29				
GANAB	23193	broad.mit.edu	37	11	62396361	62396361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62396361C>T	ENST00000356638.3	-	17	2076	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*	GANAB_ENST00000540933.1_Nonsense_Mutation_p.W590*|GANAB_ENST00000346178.4_Nonsense_Mutation_p.W709*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.W595*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	687					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGTAACAGCCATGGCTCTCG	0.552																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2125-2127)tGg>tAg		glucosidase, alpha; neutral AB							173.0	154.0	161.0					11																	62396361		2202	4299	6501	SO:0001587	stop_gained	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396361C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2060G>A	11.37:g.62396361C>T	ENSP00000349053:p.Trp687*					GANAB_ENST00000534779.1_Nonsense_Mutation_p.W595*|GANAB_ENST00000356638.3_Nonsense_Mutation_p.W687*|GANAB_ENST00000540933.1_Nonsense_Mutation_p.W590*	p.W709*	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			18	2141	-			687					A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	ENST00000356638.3	37	c.2126G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.539254	0.97646	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5112	16.2431	0.82426	0.0:1.0:0.0:0.0	.	.	.	.	X	709;687;595;590	.	ENSP00000340466:W709X	W	-	2	0	GANAB	62152937	1.000000	0.71417	0.990000	0.47175	0.938000	0.57974	7.594000	0.82698	2.710000	0.92621	0.655000	0.94253	TGG		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		27	64	0	0	0	1	0	27	64				
NLRX1	79671	broad.mit.edu	37	11	119044644	119044644	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:119044644T>C	ENST00000409109.1	+	5	1273	c.686T>C	c.(685-687)cTg>cCg	p.L229P	NLRX1_ENST00000409991.1_Missense_Mutation_p.L229P|NLRX1_ENST00000292199.2_Missense_Mutation_p.L229P|NLRX1_ENST00000409265.4_Missense_Mutation_p.L229P|NLRX1_ENST00000525863.1_Missense_Mutation_p.L229P	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	229	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTCTGCCCCTGATGGCTGCT	0.632																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(685-687)cTg>cCg		NLR family member X1							78.0	67.0	71.0					11																	119044644		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044644T>C	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.686T>C	11.37:g.119044644T>C	ENSP00000387334:p.Leu229Pro					NLRX1_ENST00000525863.1_Missense_Mutation_p.L229P|NLRX1_ENST00000409991.1_Missense_Mutation_p.L229P|NLRX1_ENST00000409265.4_Missense_Mutation_p.L229P|NLRX1_ENST00000292199.2_Missense_Mutation_p.L229P	p.L229P			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	1273	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	229			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.686T>C	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210352	0.39003	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.93	4.81	0.61882	NACHT nucleoside triphosphatase (1);	0.127764	0.36482	N	0.002572	D	0.82674	0.5088	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.974;0.979	T	0.79522	-0.1769	10	0.27785	T	0.31	.	8.3238	0.32145	0.0:0.1535:0.0:0.8465	.	229;229	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	P	229	ENSP00000386851:L229P;ENSP00000292199:L229P;ENSP00000386858:L229P;ENSP00000387334:L229P;ENSP00000433442:L229P	ENSP00000292199:L229P	L	+	2	0	NLRX1	118549854	0.852000	0.29690	0.995000	0.50966	0.320000	0.28249	2.891000	0.48617	1.083000	0.41159	0.459000	0.35465	CTG		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		3	16	0	0	0	1	0	3	16				
FAM83H	286077	broad.mit.edu	37	8	144808312	144808312	+	Missense_Mutation	SNP	G	G	A	rs202021527		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144808312G>A	ENST00000388913.3	-	5	3444	c.3319C>T	c.(3319-3321)Cgc>Tgc	p.R1107C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1107					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCAGCGTGCGGCTCAGCCGG	0.667													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15563	0.0		0.0	False		,,,				2504	0.0					ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3319-3321)Cgc>Tgc		family with sequence similarity 83, member H							11.0	13.0	12.0					8																	144808312		1994	4153	6147	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808312G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3319C>T	8.37:g.144808312G>A	ENSP00000373565:p.Arg1107Cys						p.R1107C	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3444	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1107					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3319C>T	CCDS6410.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	14.54	2.567253	0.45694	.	.	ENSG00000180921	ENST00000388913	T	0.20069	2.1	4.96	4.96	0.65561	.	0.139881	0.31531	U	0.007493	T	0.13628	0.0330	L	0.32530	0.975	0.42077	D	0.991236	B	0.30104	0.268	B	0.21151	0.033	T	0.07385	-1.0775	10	0.72032	D	0.01	.	6.0117	0.19580	0.1008:0.0:0.7089:0.1903	.	1107	Q6ZRV2	FA83H_HUMAN	C	1107	ENSP00000373565:R1107C	ENSP00000373565:R1107C	R	-	1	0	FAM83H	144880300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.911000	0.63328	2.304000	0.77564	0.556000	0.70494	CGC		0.667	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		7	7	0	0	0	1	0	7	7				
DHX30	22907	broad.mit.edu	37	3	47882389	47882389	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47882389G>A	ENST00000445061.1	+	7	796	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	DHX30_ENST00000348968.4_Missense_Mutation_p.R102Q|DHX30_ENST00000446256.2_Missense_Mutation_p.R91Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R158Q	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	130						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTAGGTCCCCGGAATGAGTTG	0.577																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(271-273)cGg>cAg		DEAH (Asp-Glu-Ala-His) box helicase 30							56.0	52.0	54.0					3																	47882389		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882389G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.389G>A	3.37:g.47882389G>A	ENSP00000405620:p.Arg130Gln					DHX30_ENST00000445061.1_Missense_Mutation_p.R130Q|DHX30_ENST00000348968.4_Missense_Mutation_p.R102Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R158Q	p.R91Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	844	+			130			DRBM.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.272G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517201	0.64634	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03212	4.03;4.02;4.03;4.01	4.89	4.02	0.46733	.	0.147478	0.44483	D	0.000445	T	0.03739	0.0106	L	0.34521	1.04	0.40368	D	0.979313	P;P;P	0.49862	0.929;0.792;0.885	B;B;B	0.40410	0.176;0.208;0.328	T	0.53244	-0.8466	10	0.52906	T	0.07	.	10.5484	0.45072	0.0895:0.0:0.9105:0.0	.	130;91;158	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	Q	91;130;102;158	ENSP00000392601:R91Q;ENSP00000405620:R130Q;ENSP00000343442:R102Q;ENSP00000394682:R158Q	ENSP00000343442:R102Q	R	+	2	0	DHX30	47857393	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.278000	0.58946	1.047000	0.40274	0.655000	0.94253	CGG		0.577	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		8	46	0	0	0	1	0	8	46				
SYNPR	132204	broad.mit.edu	37	3	63429127	63429127	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:63429127T>C	ENST00000295894.5	+	1	375	c.6T>C	c.(4-6)tgT>tgC	p.C2C	SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.C2C|SYNPR_ENST00000479198.1_Silent_p.C2C|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000465156.1_Silent_p.C2C	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	2	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TGTAAATGTGTATGGTGATAT	0.403																																					NSCLC(29;1052 1116 20025 32519)	ENST00000295894.5																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(4-6)tgT>tgC		synaptoporin							212.0	193.0	199.0					3																	63429127		1896	4111	6007	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63429127T>C	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.6T>C	3.37:g.63429127T>C						SYNPR_ENST00000479198.1_Silent_p.C2C|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Silent_p.C2C|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000460711.1_Silent_p.C2C	p.C2C	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	1	375	+			2			MARVEL.		B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.6T>C	CCDS46860.1																																																																																				0.403	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			3	2	0	0	0	1	0	3	2				
SSH2	85464	broad.mit.edu	37	17	27963743	27963743	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27963743G>T	ENST00000269033.3	-	14	1575	c.1424C>A	c.(1423-1425)cCt>cAt	p.P475H	RP11-68I3.5_ENST00000581240.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P502H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	475					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTAGCCCAGGTTTGCAGAT	0.498																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1423-1425)cCt>cAt		slingshot protein phosphatase 2							264.0	232.0	243.0					17																	27963743		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963743G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1424C>A	17.37:g.27963743G>T	ENSP00000269033:p.Pro475His					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P502H	p.P475H	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	1575	-			475					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1424C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854777	0.71719	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35973	1.28;1.28	6.16	5.19	0.71726	.	0.694265	0.14294	N	0.328764	T	0.48995	0.1531	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61722	0.893;0.784	T	0.49908	-0.8889	10	0.72032	D	0.01	-2.2918	16.9484	0.86236	0.0:0.0:0.871:0.1289	.	502;475	F5H527;Q76I76	.;SSH2_HUMAN	H	475;502	ENSP00000269033:P475H;ENSP00000444743:P502H	ENSP00000269033:P475H	P	-	2	0	SSH2	24987869	0.996000	0.38824	0.997000	0.53966	0.959000	0.62525	7.768000	0.85345	1.603000	0.50134	-0.188000	0.12872	CCT		0.498	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		44	79	1	0	1.19451e-25	1	1.33414e-25	44	79				
RALYL	138046	broad.mit.edu	37	8	85799885	85799885	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:85799885G>T	ENST00000521268.1	+	8	1837	c.732G>T	c.(730-732)gaG>gaT	p.E244D	RALYL_ENST00000522455.1_Missense_Mutation_p.E244D|RALYL_ENST00000523850.1_Missense_Mutation_p.E171D|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Missense_Mutation_p.E233D|RALYL_ENST00000521695.1_Missense_Mutation_p.E244D|RALYL_ENST00000517638.1_Missense_Mutation_p.E257D	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	244							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGATCCAAGAGGAATGTGTGT	0.502																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(730-732)gaG>gaT		RALY RNA binding protein-like							131.0	129.0	130.0					8																	85799885		1959	4149	6108	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799885G>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.732G>T	8.37:g.85799885G>T	ENSP00000430367:p.Glu244Asp					RALYL_ENST00000521695.1_Missense_Mutation_p.E244D|RALYL_ENST00000518566.1_Missense_Mutation_p.E233D|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.E257D|RALYL_ENST00000523850.1_Missense_Mutation_p.E171D|RALYL_ENST00000522455.1_Missense_Mutation_p.E244D	p.E244D	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1837	+			244					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.732G>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366818	0.11352	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.16196	2.78;2.78;2.78;2.78;2.77;2.36	5.64	-11.3	0.00108	.	0.442380	0.23569	N	0.046768	T	0.06600	0.0169	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.50524	-0.8818	10	0.20046	T	0.44	-1.6096	1.0053	0.01486	0.3414:0.1084:0.2831:0.2671	.	233;171;257;244	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	D	244;244;244;233;257;171	ENSP00000430394:E244D;ENSP00000428667:E244D;ENSP00000430367:E244D;ENSP00000430065:E233D;ENSP00000430128:E257D;ENSP00000428807:E171D	ENSP00000430128:E257D	E	+	3	2	RALYL	85962440	0.002000	0.14202	0.178000	0.23040	0.991000	0.79684	-2.540000	0.00937	-3.265000	0.00201	-0.258000	0.10820	GAG		0.502	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			31	47	1	0	3.80469e-20	1	4.21587e-20	31	47				
DR1	1810	broad.mit.edu	37	1	93812396	93812396	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93812396C>T	ENST00000370272.4	+	1	952	c.194C>T	c.(193-195)aCc>aTc	p.T65I	RP4-717I23.3_ENST00000451302.2_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.T65I|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	65					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		GAAAAGAAGACCATCTCACCA	0.463																																						ENST00000370272.3																			0				endometrium(3)|large_intestine(1)	4						c.(193-195)aCc>aTc		down-regulator of transcription 1, TBP-binding (negative cofactor 2)							78.0	73.0	74.0					1																	93812396		2203	4300	6503	SO:0001583	missense	1810				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812396C>T	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.194C>T	1.37:g.93812396C>T	ENSP00000359295:p.Thr65Ile					DR1_ENST00000370267.1_Missense_Mutation_p.T65I	p.T65I	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	952	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)	65						Missense_Mutation	SNP	ENST00000370272.4	37	c.194C>T	CCDS744.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435776	0.83885	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.61158	0.13;0.13	5.76	3.86	0.44501	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.88181	2.935	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	T	0.75056	-0.3452	10	0.87932	D	0	-5.2398	10.5942	0.45327	0.1443:0.7879:0.0:0.0678	.	65	Q01658	NC2B_HUMAN	I	65	ENSP00000359295:T65I;ENSP00000359290:T65I	ENSP00000359290:T65I	T	+	2	0	DR1	93584984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	0.720000	0.32209	0.655000	0.94253	ACC		0.463	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938		12	19	0	0	0	1	0	12	19				
DDX5	1655	broad.mit.edu	37	17	62496410	62496410	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62496410G>A	ENST00000225792.5	-	13	1877	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Silent_p.D413D|DDX5_ENST00000578804.1_Silent_p.D492D	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	492	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGTCCCGACGGTCATCCTTCA	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1474-1476)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box helicase 5							82.0	83.0	82.0					17																	62496410		2203	4300	6503	SO:0001819	synonymous_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496410G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1476C>T	17.37:g.62496410G>A						DDX5_ENST00000578804.1_Silent_p.D492D|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Silent_p.D413D	p.D492D	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1877	-	Breast(5;2.15e-14)		492					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	c.1476C>T	CCDS11659.1																																																																																				0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		34	52	0	0	0	1	0	34	52				
CCDC155	147872	broad.mit.edu	37	19	49897812	49897812	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49897812C>T	ENST00000447857.3	+	3	328	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	41						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCACGTTCGAAGCTTGTG	0.637																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(121-123)ttC>ttT		coiled-coil domain containing 155							80.0	83.0	82.0					19																	49897812		2085	4222	6307	SO:0001819	synonymous_variant	147872					integral to membrane	calcium ion binding	g.chr19:49897812C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.123C>T	19.37:g.49897812C>T							p.F41F	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			3	328	+			41					Q96MC3	Silent	SNP	ENST00000447857.3	37	c.123C>T	CCDS46140.1																																																																																				0.637	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		23	50	0	0	0	1	0	23	50				
PCDHGA1	56114	broad.mit.edu	37	5	140711852	140711852	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140711852C>T	ENST00000517417.1	+	1	1601	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A534V|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	534	Cadherin 5. {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)			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)			AAAGTGATGGCGCGGGACAGT	0.597																																						ENST00000517417.1																			0				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						c.(1600-1602)gCg>gTg									186.0	198.0	194.0					5																	140711852		2203	4300	6503	SO:0001583	missense	0							g.chr5:140711852C>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.1601C>T	5.37:g.140711852C>T	ENSP00000431083:p.Ala534Val					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A534V	p.A534V	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1601	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1601C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882737	0.33255	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.73363	-0.74;-0.74	3.82	3.82	0.43975	Cadherin (5);Cadherin-like (1);	0.000000	0.47093	D	0.000243	D	0.87172	0.6111	M	0.87827	2.91	0.33379	D	0.574631	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.954	D	0.92271	0.5825	10	0.87932	D	0	.	15.8705	0.79117	0.0:1.0:0.0:0.0	.	534;534	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	534	ENSP00000431083:A534V;ENSP00000367345:A534V	ENSP00000367345:A534V	A	+	2	0	PCDHGA1	140692036	0.543000	0.26434	0.032000	0.17829	0.023000	0.10783	1.225000	0.32551	2.127000	0.65507	0.557000	0.71058	GCG		0.597	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		44	83	0	0	0	1	0	44	83				
CRYL1	51084	broad.mit.edu	37	13	20987517	20987517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20987517C>T	ENST00000298248.7	-	6	705	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	CRYL1_ENST00000382812.1_Missense_Mutation_p.V193M	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	215					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTAGGAGACACGATTCCTTCC	0.463																																						ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(577-579)Gtg>Atg		crystallin, lambda 1							109.0	107.0	107.0					13																	20987517		1962	4148	6110	SO:0001583	missense	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:20987517C>T	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.643G>A	13.37:g.20987517C>T	ENSP00000298248:p.Val215Met					CRYL1_ENST00000298248.7_Missense_Mutation_p.V215M	p.V193M			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	7	805	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	215					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	c.577G>A	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	8.258	0.810609	0.16537	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	D;D	0.90385	-2.66;-2.66	5.11	4.26	0.50523	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.069570	0.64402	D	0.000013	D	0.88822	0.6541	M	0.68317	2.08	0.42202	D	0.991772	D	0.53745	0.962	P	0.46320	0.512	D	0.86872	0.2036	10	0.34782	T	0.22	-42.6232	7.7928	0.29129	0.0:0.7556:0.0:0.2444	.	215	Q9Y2S2	CRYL1_HUMAN	M	215;193	ENSP00000298248:V215M;ENSP00000372262:V193M	ENSP00000298248:V215M	V	-	1	0	CRYL1	19885517	0.216000	0.23585	0.937000	0.37676	0.090000	0.18270	0.577000	0.23758	2.371000	0.80710	0.561000	0.74099	GTG		0.463	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		5	13	0	0	0	1	0	5	13				
RAD54L	8438	broad.mit.edu	37	1	46726956	46726956	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46726956G>A	ENST00000371975.4	+	8	1464	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.A264T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	264	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCGTGGAGCCAGGGTGTC	0.408								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(790-792)Gcc>Acc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							120.0	106.0	111.0					1																	46726956		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726956G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.790G>A	1.37:g.46726956G>A	ENSP00000361043:p.Ala264Thr					RAD54L_ENST00000442598.1_Missense_Mutation_p.A264T	p.A264T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	8	1464	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	264			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.790G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423635	0.43020	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.92647	-3.08;-3.08	5.71	4.74	0.60224	DEAD-like helicase (2);SNF2-related (1);	0.384294	0.28398	N	0.015500	D	0.84611	0.5510	N	0.24115	0.695	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.15052	0.009;0.012	T	0.77832	-0.2441	10	0.26408	T	0.33	-9.4598	10.6479	0.45632	0.0754:0.2231:0.7015:0.0	.	84;264	G3V1N0;Q92698	.;RAD54_HUMAN	T	264;264;84	ENSP00000396113:A264T;ENSP00000361043:A264T	ENSP00000361043:A264T	A	+	1	0	RAD54L	46499543	0.804000	0.28969	1.000000	0.80357	0.756000	0.42949	0.045000	0.14013	2.873000	0.98535	0.561000	0.74099	GCC		0.408	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		41	42	0	0	0	1	0	41	42				
SAFB	6294	broad.mit.edu	37	19	5661677	5661677	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5661677C>T	ENST00000292123.5	+	15	2118	c.2011C>T	c.(2011-2013)Cgc>Tgc	p.R671C	SAFB_ENST00000454510.1_Missense_Mutation_p.R602C|SAFB_ENST00000592224.1_Missense_Mutation_p.R670C|SAFB_ENST00000588852.1_Missense_Mutation_p.R671C|SAFB_ENST00000538656.1_Missense_Mutation_p.R513C|SAFB_ENST00000433404.1_Missense_Mutation_p.R501C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	671	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ACGGCTGGAGCGCGAACGCAT	0.701																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2011-2013)Cgc>Tgc		scaffold attachment factor B							17.0	21.0	19.0					19																	5661677		2198	4291	6489	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661677C>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2011C>T	19.37:g.5661677C>T	ENSP00000292123:p.Arg671Cys					SAFB_ENST00000454510.1_Missense_Mutation_p.R602C|SAFB_ENST00000592224.1_Missense_Mutation_p.R670C|SAFB_ENST00000538656.1_Missense_Mutation_p.R513C|SAFB_ENST00000588852.1_Missense_Mutation_p.R671C|SAFB_ENST00000433404.1_Missense_Mutation_p.R501C	p.R671C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	2118	+			671			Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2011C>T	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849263	0.51270	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.28454	1.75;1.76;1.67;1.61	5.38	4.28	0.50868	.	0.000000	0.53938	D	0.000056	T	0.58264	0.2110	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.999;0.997;0.997;0.997;0.997	T	0.64462	-0.6402	10	0.87932	D	0	-15.6844	14.8817	0.70537	0.2254:0.7746:0.0:0.0	.	470;513;602;670;671;671;670	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	C	602;566;501;671;513	ENSP00000415895:R602C;ENSP00000404545:R501C;ENSP00000292123:R671C;ENSP00000438880:R513C	ENSP00000292123:R671C	R	+	1	0	SAFB	5612677	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	1.911000	0.39937	2.683000	0.91414	0.455000	0.32223	CGC		0.701	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			5	6	0	0	0	1	0	5	6				
NDUFS3	4722	broad.mit.edu	37	11	47606018	47606018	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47606018G>A	ENST00000263774.4	+	7	862	c.780G>A	c.(778-780)aaG>aaA	p.K260K	FAM180B_ENST00000538490.1_5'Flank|FAM180B_ENST00000356737.2_5'Flank|NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	260					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GAGACAAGAAGCCTGATGCCA	0.512																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(778-780)aaG>aaA		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						114.0	114.0	114.0					11																	47606018		2201	4298	6499	SO:0001819	synonymous_variant	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47606018G>A	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.780G>A	11.37:g.47606018G>A						NDUFS3_ENST00000533507.1_3'UTR	p.K260K	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			7	862	+			260					B2R9J1|B4DFM8|Q9UNQ8	Silent	SNP	ENST00000263774.4	37	c.780G>A	CCDS7941.1																																																																																				0.512	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		9	78	0	0	0	1	0	9	78				
PDE4DIP	9659	broad.mit.edu	37	1	144863353	144863353	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:144863353T>C	ENST00000369354.3	-	37	6239	c.6050A>G	c.(6049-6051)gAg>gGg	p.E2017G	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1911G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2102G|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2153G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2017					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATAAAGTGCCTCGTAGATTTG	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6457-6459)gAg>gGg		phosphodiesterase 4D interacting protein							212.0	201.0	205.0					1																	144863353		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863353T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6050A>G	1.37:g.144863353T>C	ENSP00000358360:p.Glu2017Gly					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2102G|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1911G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2017G|PDE4DIP_ENST00000524974.1_5'UTR	p.E2153G			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6496	-			2017					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6458A>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.134673|5.134673	0.94517|0.94517	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02837|.	4.14;4.32;4.33;4.32;4.35|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|.	.|.	.|.	.|.	T|T	0.64994|0.64994	0.2649|0.2649	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.944;0.999|.	P;D|.	0.77557|.	0.646;0.99|.	T|T	0.67461|0.67461	-0.5665|-0.5665	9|5	0.87932|.	D|.	0|.	.|.	12.6355|12.6355	0.56681|0.56681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1911;2017|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	G|G	1911;2017;2017;2102;2153|174	ENSP00000327209:E1911G;ENSP00000358360:E2017G;ENSP00000358363:E2017G;ENSP00000435654:E2102G;ENSP00000358366:E2153G|.	ENSP00000327209:E1911G|.	E|R	-|-	2|1	0|2	PDE4DIP|PDE4DIP	143574710|143574710	0.997000|0.997000	0.39634|0.39634	0.393000|0.393000	0.26258|0.26258	0.841000|0.841000	0.47740|0.47740	4.031000|4.031000	0.57267|0.57267	1.948000|1.948000	0.56530|0.56530	0.397000|0.397000	0.26171|0.26171	GAG|AGG		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	120	0	0	0	1	0	5	120				
SAMHD1	25939	broad.mit.edu	37	20	35539724	35539724	+	Silent	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35539724A>T	ENST00000262878.4	-	11	1366	c.1167T>A	c.(1165-1167)gcT>gcA	p.A389A		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	389					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CTTTGAGGAAAGCATCTGTAA	0.333																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1165-1167)gcT>gcA		SAM domain and HD domain 1							97.0	91.0	93.0					20																	35539724		2203	4300	6503	SO:0001819	synonymous_variant	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35539724A>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1167T>A	20.37:g.35539724A>T							p.A389A	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			11	1366	-		Myeloproliferative disorder(115;0.00878)	389					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Silent	SNP	ENST00000262878.4	37	c.1167T>A	CCDS13288.1																																																																																				0.333	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		36	47	0	0	0	1	0	36	47				
MLPH	79083	broad.mit.edu	37	2	238434378	238434378	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238434378C>T	ENST00000264605.3	+	7	1104	c.810C>T	c.(808-810)caC>caT	p.H270H	MLPH_ENST00000338530.4_Silent_p.H270H|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Silent_p.H230H|MLPH_ENST00000445024.2_Silent_p.H270H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	270					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTTCCAGACACGGCGCCCTGG	0.667																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(808-810)caC>caT		melanophilin							45.0	47.0	46.0					2																	238434378		2203	4300	6503	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238434378C>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.810C>T	2.37:g.238434378C>T						MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.H270H|MLPH_ENST00000338530.4_Silent_p.H270H|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Silent_p.H230H	p.H270H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	7	1104	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	270					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.810C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.740	-0.053727	0.07362	.	.	ENSG00000115648	ENST00000437893;ENST00000436965	T	0.28069	1.63	3.35	-2.25	0.06888	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31166	-0.9953	5	.	.	.	0.3053	4.6401	0.12545	0.4751:0.1758:0.3491:0.0	.	.	.	.	M	77;3	ENSP00000412438:T77M	.	T	+	2	0	MLPH	238099117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.172000	0.09868	-0.521000	0.06426	-1.097000	0.02148	ACG		0.667	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		13	31	0	0	0	1	0	13	31				
ZNF615	284370	broad.mit.edu	37	19	52496341	52496341	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52496341C>T	ENST00000602063.1	-	6	2337	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	ZNF615_ENST00000391795.3_Missense_Mutation_p.R668H|ZNF615_ENST00000598071.1_Missense_Mutation_p.R674H|ZNF615_ENST00000594083.1_Missense_Mutation_p.R674H|ZNF615_ENST00000376716.5_Missense_Mutation_p.R663H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATCATTTTTGCGCAAAGAGAA	0.408																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1987-1989)cGc>cAc		zinc finger protein 615							151.0	149.0	150.0					19																	52496341		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496341C>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1988G>A	19.37:g.52496341C>T	ENSP00000473089:p.Arg663His					ZNF615_ENST00000598071.1_Missense_Mutation_p.R674H|ZNF615_ENST00000594083.1_Missense_Mutation_p.R674H|ZNF615_ENST00000391795.3_Missense_Mutation_p.R668H|ZNF615_ENST00000376716.5_Missense_Mutation_p.R663H	p.R663H			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2337	-		all_neural(266;0.117)	663					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1988G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222759	0.22457	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.36157	1.27;1.27	3.14	-0.54	0.11861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18173	0.0436	N	0.16016	0.355	0.09310	N	1	B;B;B;B	0.14012	0.007;0.009;0.009;0.007	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.23013	-1.0200	9	0.28530	T	0.3	.	6.2946	0.21079	0.0:0.3629:0.0:0.6371	.	668;670;674;663	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	663;673;668;617	ENSP00000365906:R663H;ENSP00000375672:R668H	ENSP00000347019:R673H	R	-	2	0	ZNF615	57188153	0.000000	0.05858	0.068000	0.19968	0.996000	0.88848	-1.753000	0.01818	0.107000	0.17824	0.655000	0.94253	CGC		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		7	154	0	0	0	1	0	7	154				
PPP1R11	6992	broad.mit.edu	37	6	30036998	30036998	+	Missense_Mutation	SNP	G	G	A	rs372960824		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30036998G>A	ENST00000376772.3	+	3	619	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PPP1R11_ENST00000376758.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376765.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R47H	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	99						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AAAGGACGGCGTCGTGCAACC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		13025	0.001		0.0	False		,,,				2504	0.0				Pancreas(185;1767 3918 43793)	ENST00000376772.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(295-297)cGt>cAt		protein phosphatase 1, regulatory (inhibitor) subunit 11		G	HIS/ARG	1,3021		0,1,1510	82.0	88.0	86.0		296	5.1	1.0	6		86	0,5418		0,0,2709	no	missense	PPP1R11	NM_021959.2	29	0,1,4219	AA,AG,GG		0.0,0.0331,0.0118	probably-damaging	99/127	30036998	1,8439	1511	2709	4220	SO:0001583	missense	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30036998G>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.296G>A	6.37:g.30036998G>A	ENSP00000365963:p.Arg99His					PPP1R11_ENST00000376765.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376763.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376758.1_Missense_Mutation_p.R47H|PPP1R11_ENST00000376769.2_Missense_Mutation_p.R47H|PPP1R11_ENST00000376773.1_Missense_Mutation_p.R47H	p.R99H	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN			3	619	+			99						Missense_Mutation	SNP	ENST00000376772.3	37	c.296G>A	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365747	0.61513	3.31E-4	0.0	ENSG00000204619	ENST00000376773;ENST00000376772;ENST00000376769;ENST00000376765;ENST00000376763;ENST00000376758	.	.	.	5.1	5.1	0.69264	.	0.289525	0.39274	N	0.001406	T	0.29556	0.0737	N	0.24115	0.695	0.34538	D	0.709979	B	0.10296	0.003	B	0.04013	0.001	T	0.18178	-1.0345	9	0.48119	T	0.1	-5.7551	14.3752	0.66869	0.0:0.0:1.0:0.0	.	99	O60927	PP1RB_HUMAN	H	47;99;47;47;47;47	.	ENSP00000365949:R47H	R	+	2	0	PPP1R11	30144977	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.298000	0.59067	2.521000	0.84997	0.549000	0.68633	CGT		0.622	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959		23	25	0	0	0	1	0	23	25				
BUB1	699	broad.mit.edu	37	2	111419366	111419366	+	Missense_Mutation	SNP	G	G	A	rs548365437	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:111419366G>A	ENST00000302759.6	-	10	1128	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	BUB1_ENST00000409311.1_Missense_Mutation_p.A337V|BUB1_ENST00000535254.1_Missense_Mutation_p.A317V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	337					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGACATGGCGCTCTCAGTTC	0.453													G|||	5	0.000998403	0.0	0.0	5008	,	,		21445	0.0		0.0	False		,,,				2504	0.0051					ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(949-951)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase							134.0	128.0	130.0					2																	111419366		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111419366G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1010C>T	2.37:g.111419366G>A	ENSP00000302530:p.Ala337Val					BUB1_ENST00000302759.6_Missense_Mutation_p.A337V|BUB1_ENST00000409311.1_Missense_Mutation_p.A337V	p.A317V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	9	1017	-		Ovarian(717;0.0822)	337					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.950C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722793	0.30503	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30981	2.23;1.51;2.51	5.09	-0.39	0.12450	.	1.353090	0.04080	N	0.309404	T	0.18383	0.0441	N	0.25647	0.755	0.09310	N	1	B;B;B	0.17465	0.017;0.022;0.022	B;B;B	0.12156	0.007;0.003;0.005	T	0.13818	-1.0495	10	0.16420	T	0.52	-0.0195	2.4318	0.04473	0.1794:0.3251:0.371:0.1245	.	317;337;337	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	317;337;337;337	ENSP00000441013:A317V;ENSP00000386701:A337V;ENSP00000302530:A337V	ENSP00000302530:A337V	A	-	2	0	BUB1	111135839	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-0.242000	0.08928	-0.093000	0.12396	0.555000	0.69702	GCG		0.453	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		27	44	0	0	0	1	0	27	44				
DGKZ	8525	broad.mit.edu	37	11	46401088	46401088	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46401088C>T	ENST00000454345.1	+	31	3332	c.3207C>T	c.(3205-3207)gcC>gcT	p.A1069A	MDK_ENST00000395565.1_5'Flank|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000528615.1_Silent_p.A659A|MDK_ENST00000407067.1_5'Flank|DGKZ_ENST00000318201.8_Silent_p.A858A|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000395574.3_Silent_p.A847A|DGKZ_ENST00000343674.6_Silent_p.A897A|DGKZ_ENST00000532868.2_Silent_p.A885A|MDK_ENST00000395566.4_5'Flank|MDK_ENST00000405308.2_5'Flank|DGKZ_ENST00000527911.1_Silent_p.A886A|DGKZ_ENST00000456247.2_Silent_p.A880A|DGKZ_ENST00000421244.2_Silent_p.A881A|DGKZ_ENST00000543978.1_Silent_p.A233A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1069					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCGTGGAGGCCGGGGCCTCGC	0.667																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(3205-3207)gcC>gcT		diacylglycerol kinase, zeta							19.0	19.0	19.0					11																	46401088		2191	4289	6480	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46401088C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3207C>T	11.37:g.46401088C>T						DGKZ_ENST00000395574.3_Silent_p.A847A|DGKZ_ENST00000543978.1_Silent_p.A233A|DGKZ_ENST00000318201.8_Silent_p.A858A|DGKZ_ENST00000343674.6_Silent_p.A897A|DGKZ_ENST00000421244.2_Silent_p.A881A|DGKZ_ENST00000528615.1_Silent_p.A659A|DGKZ_ENST00000527911.1_Silent_p.A886A|DGKZ_ENST00000532868.2_Silent_p.A885A|DGKZ_ENST00000456247.2_Silent_p.A880A	p.A1069A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	31	3332	+			1069					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.3207C>T	CCDS41640.1																																																																																				0.667	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		6	3	0	0	0	1	0	6	3				
MYOM2	9172	broad.mit.edu	37	8	2057240	2057240	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2057240G>A	ENST00000262113.4	+	25	3239	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1033					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R1033H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGCGGGTTCGCTTCTGGCTC	0.443																																						ENST00000262113.4																			1	Substitution - Missense(1)	p.R1033H(1)	lung(1)	autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3097-3099)cGc>cAc		myomesin 2							81.0	79.0	80.0					8																	2057240		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2057240G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3098G>A	8.37:g.2057240G>A	ENSP00000262113:p.Arg1033His					MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H	p.R1033H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	25	3239	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1033					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.3098G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	34	5.353441	0.95830	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.44083	0.93;0.93	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72007	-0.4420	10	0.87932	D	0	.	20.0285	0.97531	0.0:0.0:1.0:0.0	.	1033	P54296	MYOM2_HUMAN	H	1033;458	ENSP00000262113:R1033H;ENSP00000428396:R458H	ENSP00000262113:R1033H	R	+	2	0	MYOM2	2044647	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.512000	0.98008	2.727000	0.93392	0.645000	0.84053	CGC		0.443	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		36	33	0	0	0	1	0	36	33				
FASTKD1	79675	broad.mit.edu	37	2	170417105	170417105	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170417105C>T	ENST00000453153.2	-	5	1109	c.763G>A	c.(763-765)Gta>Ata	p.V255I	FASTKD1_ENST00000453929.2_Missense_Mutation_p.V255I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	255					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTTAAAAATACGTTATTACAT	0.289																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(763-765)Gta>Ata		FAST kinase domains 1							66.0	69.0	68.0					2																	170417105		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170417105C>T	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.763G>A	2.37:g.170417105C>T	ENSP00000400513:p.Val255Ile					FASTKD1_ENST00000453929.2_Missense_Mutation_p.V255I	p.V255I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			5	1109	-			255					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.763G>A	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	1.740	-0.491938	0.04322	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000417376;ENST00000438035;ENST00000445210	T;T	0.17528	2.27;2.27	5.44	1.53	0.23141	.	0.430298	0.25523	N	0.030092	T	0.10723	0.0262	L	0.45698	1.435	0.23425	N	0.997702	B;P;B	0.35011	0.349;0.48;0.209	B;B;B	0.29942	0.051;0.109;0.028	T	0.29212	-1.0019	10	0.12430	T	0.62	-3.6403	6.5092	0.22212	0.0:0.5835:0.124:0.2925	.	232;255;255	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	I	255;255;83;232;255	ENSP00000400513:V255I;ENSP00000403229:V255I	ENSP00000408667:V83I	V	-	1	0	FASTKD1	170125351	0.004000	0.15560	0.968000	0.41197	0.071000	0.16799	-0.023000	0.12456	0.258000	0.21686	-0.801000	0.03215	GTA		0.289	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		21	28	0	0	0	1	0	21	28				
HECW1	23072	broad.mit.edu	37	7	43540349	43540349	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43540349G>A	ENST00000395891.2	+	20	4094	c.3489G>A	c.(3487-3489)ttG>ttA	p.L1163L	HECW1_ENST00000453890.1_Silent_p.L1129L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTGAGAAGTTGTCCTGTGATG	0.488																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3487-3489)ttG>ttA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							209.0	201.0	203.0					7																	43540349		1919	4138	6057	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43540349G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3489G>A	7.37:g.43540349G>A						HECW1_ENST00000453890.1_Silent_p.L1129L	p.L1163L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			20	4094	+			1163					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3489G>A	CCDS5469.2																																																																																				0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		27	48	0	0	0	1	0	27	48				
WDR63	126820	broad.mit.edu	37	1	85551600	85551600	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85551600C>A	ENST00000294664.6	+	7	807	c.627C>A	c.(625-627)gcC>gcA	p.A209A	WDR63_ENST00000326813.8_Silent_p.A209A|WDR63_ENST00000370596.1_Silent_p.A209A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	209										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAAAAGATGCCTATATTGAAT	0.353																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(625-627)gcC>gcA		WD repeat domain 63							110.0	104.0	106.0					1																	85551600		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85551600C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.627C>A	1.37:g.85551600C>A						WDR63_ENST00000370596.1_Silent_p.A209A|WDR63_ENST00000326813.8_Silent_p.A209A	p.A209A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	7	807	+			209					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.627C>A	CCDS702.1																																																																																				0.353	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		22	30	1	0	1.10513e-12	1	1.19686e-12	22	30				
WDR24	84219	broad.mit.edu	37	16	737159	737159	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:737159C>T	ENST00000248142.6	-	7	1306	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.R306H			Q96S15	WDR24_HUMAN	WD repeat domain 24	436										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGGGGGTGGCGCCAGGCAAT	0.647																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(916-918)cGc>cAc		WD repeat domain 24							37.0	44.0	42.0					16																	737159		2200	4300	6500	SO:0001583	missense	84219							g.chr16:737159C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1307G>A	16.37:g.737159C>T	ENSP00000248142:p.Arg436His					WDR24_ENST00000248142.6_Missense_Mutation_p.R436H	p.R306H	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			3	1676	-		Hepatocellular(780;0.0218)	436					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.917G>A		.	.	.	.	.	.	.	.	.	.	C	19.86	3.905297	0.72868	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.26660	1.72;1.72	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.43589	-0.9382	10	0.62326	D	0.03	-1.147	16.396	0.83605	0.0:1.0:0.0:0.0	.	306	Q96S15-2	.	H	436;306	ENSP00000248142:R436H;ENSP00000293883:R306H	ENSP00000248142:R436H	R	-	2	0	WDR24	677160	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.923000	0.75817	2.513000	0.84729	0.655000	0.94253	CGC		0.647	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		5	12	0	0	0	1	0	5	12				
EVC2	132884	broad.mit.edu	37	4	5564752	5564752	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5564752G>A	ENST00000344408.5	-	22	3803	c.3750C>T	c.(3748-3750)ggC>ggT	p.G1250G	EVC2_ENST00000310917.2_Silent_p.G1170G|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1250					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGCCAGTTCGCCAATGGGCT	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3508-3510)ggC>ggT		Ellis van Creveld syndrome 2							125.0	133.0	130.0					4																	5564752		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5564752G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3750C>T	4.37:g.5564752G>A						EVC2_ENST00000344938.1_Intron|EVC2_ENST00000344408.5_Silent_p.G1250G	p.G1170G	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4241	-			1250					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.3510C>T	CCDS3382.2																																																																																				0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		29	109	0	0	0	1	0	29	109				
DFFA	1676	broad.mit.edu	37	1	10523635	10523635	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10523635G>A	ENST00000377038.3	-	4	551	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	DFFA_ENST00000377036.2_Missense_Mutation_p.R162C	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	162					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CAACTCTGACGTAGTTCCTGA	0.507																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(484-486)Cgt>Tgt		DNA fragmentation factor, 45kDa, alpha polypeptide							88.0	78.0	81.0					1																	10523635		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523635G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.484C>T	1.37:g.10523635G>A	ENSP00000366237:p.Arg162Cys					DFFA_ENST00000377036.2_Missense_Mutation_p.R162C	p.R162C	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	551	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	162					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.484C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981398	0.18812	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.82	-9.64	0.00541	DNA fragmentation factor 45kDa, C-terminal (2);	1.256650	0.05201	N	0.505002	T	0.06005	0.0156	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44390	-0.9331	9	0.54805	T	0.06	1.7704	2.1706	0.03848	0.2332:0.3086:0.3049:0.1533	.	162;162	O00273-2;O00273	.;DFFA_HUMAN	C	162	.	ENSP00000366235:R162C	R	-	1	0	DFFA	10446222	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.831000	0.01698	-2.629000	0.00435	-0.355000	0.07637	CGT		0.507	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		44	68	0	0	0	1	0	44	68				
FURIN	5045	broad.mit.edu	37	15	91424578	91424578	+	Missense_Mutation	SNP	G	G	A	rs201334295		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:91424578G>A	ENST00000268171.3	+	16	2134	c.1855G>A	c.(1855-1857)Gcc>Acc	p.A619T		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	619					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q621fs*8(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCCAGGGTTCGCCCCCCAAGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18680	0.0		0.0	False		,,,				2504	0.001					ENST00000268171.3																			1	Insertion - Frameshift(1)	p.Q621fs*8(1)	large_intestine(1)	breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(1855-1857)Gcc>Acc		furin (paired basic amino acid cleaving enzyme)							66.0	62.0	63.0					15																	91424578		2198	4296	6494	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424578G>A	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1855G>A	15.37:g.91424578G>A	ENSP00000268171:p.Ala619Thr						p.A619T	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2134	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		619			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1855G>A	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	4.745	0.138600	0.09083	.	.	ENSG00000140564	ENST00000268171	T	0.28895	1.59	5.02	-1.5	0.08691	Growth factor, receptor (1);	0.652897	0.16097	N	0.229771	T	0.16300	0.0392	N	0.16266	0.395	0.19575	N	0.999965	B	0.06786	0.001	B	0.04013	0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	-0.1593	11.8217	0.52242	0.4746:0.0:0.5254:0.0	.	619	P09958	FURIN_HUMAN	T	619	ENSP00000268171:A619T	ENSP00000268171:A619T	A	+	1	0	FURIN	89225582	0.014000	0.17966	0.004000	0.12327	0.017000	0.09413	0.545000	0.23268	-0.579000	0.05952	-0.266000	0.10368	GCC		0.632	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		17	25	0	0	0	1	0	17	25				
AKR1CL1	340811	broad.mit.edu	37	10	5204939	5204939	+	Silent	SNP	G	G	A	rs202166851		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5204939G>A	ENST00000334314.3	-	2	214	c.138C>T	c.(136-138)gaC>gaT	p.D46D	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	46						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGAAGCCTACGTCAATAGCCA	0.473													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16895	0.0		0.0	False		,,,				2504	0.0				Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(136-138)gaC>gaT		aldo-keto reductase family 1, member C-like 1							102.0	102.0	102.0					10																	5204939		2203	4300	6503	SO:0001819	synonymous_variant	340811							g.chr10:5204939G>A			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.138C>T	10.37:g.5204939G>A							p.D46D							2	214	-								A6NF66|Q6ZN81	Silent	SNP	ENST00000334314.3	37	c.138C>T																																																																																					0.473	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		43	56	0	0	0	1	0	43	56				
LAG3	3902	broad.mit.edu	37	12	6886538	6886538	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6886538C>T	ENST00000203629.2	+	6	1499	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	389	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GACACCCCATCCCAGAGGAGT	0.572																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1165-1167)tCc>tTc		lymphocyte-activation gene 3							116.0	108.0	111.0					12																	6886538		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886538C>T		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1166C>T	12.37:g.6886538C>T	ENSP00000203629:p.Ser389Phe						p.S389F	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			6	1499	+			389			Ig-like C2-type 3.		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.1166C>T	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425186	0.25639	.	.	ENSG00000089692	ENST00000203629	T	0.13538	2.58	4.76	3.87	0.44632	.	0.326405	0.26773	N	0.022567	T	0.15089	0.0364	L	0.32530	0.975	0.09310	N	1	P	0.52316	0.952	P	0.49752	0.621	T	0.04635	-1.0937	10	0.87932	D	0	-12.0981	8.6879	0.34249	0.0:0.8961:0.0:0.1039	.	389	P18627	LAG3_HUMAN	F	389	ENSP00000203629:S389F	ENSP00000203629:S389F	S	+	2	0	LAG3	6756799	0.048000	0.20356	0.023000	0.16930	0.007000	0.05969	1.939000	0.40213	1.227000	0.43598	0.561000	0.74099	TCC		0.572	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			12	51	0	0	0	1	0	12	51				
SPEM1	374768	broad.mit.edu	37	17	7324875	7324875	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7324875C>T	ENST00000323675.3	+	3	906	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	294					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCCAGCACTGCCGAGGAGACA	0.582																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(880-882)gCc>gTc		spermatid maturation 1							31.0	35.0	34.0					17																	7324875		1950	4145	6095	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324875C>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.881C>T	17.37:g.7324875C>T	ENSP00000315554:p.Ala294Val					RP11-104H15.7_ENST00000575310.1_RNA	p.A294V	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	906	+		Prostate(122;0.173)	294						Missense_Mutation	SNP	ENST00000323675.3	37	c.881C>T	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717821	0.48622	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.65	4.67	0.58626	.	0.334270	0.21605	N	0.071882	T	0.50069	0.1594	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.35450	-0.9788	9	0.56958	D	0.05	-13.0377	11.0084	0.47649	0.0:0.9114:0.0:0.0886	.	294	Q8N4L4	SPEM1_HUMAN	V	294	.	ENSP00000315554:A294V	A	+	2	0	SPEM1	7265599	0.001000	0.12720	0.126000	0.21872	0.006000	0.05464	0.766000	0.26560	2.648000	0.89879	0.655000	0.94253	GCC		0.582	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		5	6	0	0	0	1	0	5	6				
INTS5	80789	broad.mit.edu	37	11	62415761	62415761	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62415761C>T	ENST00000330574.2	-	2	1843	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	597					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCCAAAGTGCGCCCCTAGGG	0.622																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1789-1791)gcG>gcA		integrator complex subunit 5							47.0	45.0	46.0					11																	62415761		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415761C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1791G>A	11.37:g.62415761C>T							p.A597A	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1843	-			597					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.1791G>A	CCDS8027.1																																																																																				0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		8	25	0	0	0	1	0	8	25				
ZNF536	9745	broad.mit.edu	37	19	30935424	30935424	+	Missense_Mutation	SNP	G	G	A	rs142265762		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:30935424G>A	ENST00000355537.3	+	2	1102	c.955G>A	c.(955-957)Gtg>Atg	p.V319M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	319					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V319L(1)|p.V319M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATCAGCCACGTGGAGAAGGC	0.667																																						ENST00000355537.3																			2	Substitution - Missense(2)	p.V319L(1)|p.V319M(1)	large_intestine(1)|lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(955-957)Gtg>Atg		zinc finger protein 536		G	MET/VAL	0,4406		0,0,2203	88.0	98.0	95.0		955	5.6	1.0	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF536	NM_014717.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	319/1301	30935424	1,13005	2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935424G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.955G>A	19.37:g.30935424G>A	ENSP00000347730:p.Val319Met						p.V319M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1102	+	Esophageal squamous(110;0.0834)		319					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.955G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882687	0.33255	0.0	1.16E-4	ENSG00000198597	ENST00000355537	T	0.27720	1.65	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	N	0.04787	-0.16	0.51482	D	0.999927	D;D	0.89917	0.999;1.0	D;D	0.97110	0.963;1.0	T	0.36237	-0.9756	10	0.18710	T	0.47	-33.4233	19.5661	0.95393	0.0:0.0:1.0:0.0	.	319;319	A7E228;O15090	.;ZN536_HUMAN	M	319	ENSP00000347730:V319M	ENSP00000347730:V319M	V	+	1	0	ZNF536	35627264	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.024000	0.88770	2.631000	0.89168	0.491000	0.48974	GTG		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	62	0	0	0	1	0	26	62				
FOLR3	2352	broad.mit.edu	37	11	71850454	71850454	+	Missense_Mutation	SNP	C	C	T	rs374588118		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71850454C>T	ENST00000445078.2	+	4	612	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	FOLR3_ENST00000456237.1_Missense_Mutation_p.R183C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R140C			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	139					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGACTGTGAGCGCTGGTGGGA	0.562													c|||	1	0.000199681	0.0	0.0	5008	,	,		19178	0.001		0.0	False		,,,				2504	0.0					ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(541-543)Cgc>Tgc		folate receptor 3 (gamma)	Folic Acid(DB00158)	C	CYS/ARG	1,4395		0,1,2197	26.0	25.0	25.0		419	-3.3	0.0	11		25	1,8541		0,1,4270	no	missense	FOLR3	NM_000804.2	180	0,2,6467	TT,TC,CC		0.0117,0.0227,0.0155	benign	141/246	71850454	2,12936	2198	4271	6469	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850454C>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.541C>T	11.37:g.71850454C>T	ENSP00000390338:p.Arg181Cys					FOLR3_ENST00000456237.1_Missense_Mutation_p.R183C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R140C	p.R181C			P41439	FOLR3_HUMAN			4	612	+			139					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	N	7.871	0.728194	0.15507	2.27E-4	1.17E-4	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.77620	-1.11;-1.11;-1.11	3.21	-3.26	0.05064	Folate receptor-like (1);	2.400050	0.02871	U	0.131552	D	0.83774	0.5327	.	.	.	0.09310	N	1	D;B	0.76494	0.999;0.064	P;B	0.62649	0.905;0.032	T	0.73418	-0.3989	9	0.52906	T	0.07	.	9.0312	0.36260	0.1741:0.6188:0.2071:0.0	.	183;139	E9PGT2;P41439	.;FOLR3_HUMAN	C	181;183;140	ENSP00000390338:R181C;ENSP00000399235:R183C;ENSP00000411161:R140C	ENSP00000411161:R140C	R	+	1	0	FOLR3	71528102	0.000000	0.05858	0.036000	0.18154	0.371000	0.29859	-2.408000	0.01042	-0.606000	0.05746	0.591000	0.81541	CGC		0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		11	7	0	0	0	1	0	11	7				
SPTLC2	9517	broad.mit.edu	37	14	78023436	78023436	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:78023436G>A	ENST00000216484.2	-	7	1097	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	302					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CTTCGTGTCCGAGGCTGACCA	0.413																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(904-906)Cgg>Tgg		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						97.0	91.0	93.0					14																	78023436		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78023436G>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.904C>T	14.37:g.78023436G>A	ENSP00000216484:p.Arg302Trp						p.R302W	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	7	1097	-			302					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.904C>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.024555|4.024555	0.75390|0.75390	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.95949|.	-3.86|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88804|0.88804	0.6536|0.6536	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.92831|0.92831	0.6280|0.6280	10|5	0.87932|.	D|.	0|.	-12.5674|-12.5674	18.7783|18.7783	0.91920|0.91920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	302|.	O15270|.	SPTC2_HUMAN|.	W|L	302|238	ENSP00000216484:R302W|.	ENSP00000216484:R302W|.	R|S	-|-	1|2	2|0	SPTLC2|SPTLC2	77093189|77093189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.587000|3.587000	0.53957|0.53957	2.499000|2.499000	0.84300|0.84300	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		20	32	0	0	0	1	0	20	32				
IFT88	8100	broad.mit.edu	37	13	21199953	21199953	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21199953G>A	ENST00000319980.6	+	17	1618	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	IFT88_ENST00000537103.1_Missense_Mutation_p.A403T|IFT88_ENST00000351808.5_Missense_Mutation_p.A422T|IFT88_ENST00000382778.4_Missense_Mutation_p.A431T|IFT88_ENST00000461115.1_3'UTR	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	431					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AATAAACAAAGCAGTTACATA	0.318																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1291-1293)Gca>Aca		intraflagellar transport 88 homolog (Chlamydomonas)							103.0	97.0	99.0					13																	21199953		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21199953G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1291G>A	13.37:g.21199953G>A	ENSP00000323580:p.Ala431Thr					IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000319980.6_Missense_Mutation_p.A431T|IFT88_ENST00000351808.5_Missense_Mutation_p.A422T|IFT88_ENST00000537103.1_Missense_Mutation_p.A403T	p.A431T			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	16	2409	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	431					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1291G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009233	0.93346	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	D;T;T;T	0.81499	-1.5;0.2;0.2;0.2	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.055325	0.64402	D	0.000001	D	0.91523	0.7323	M	0.89353	3.025	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.919	D;D;D;B	0.76071	0.987;0.979;0.978;0.375	D	0.92611	0.6099	10	0.72032	D	0.01	-10.9596	19.0236	0.92923	0.0:0.0:1.0:0.0	.	403;431;229;431	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	T	431;294;422;431;403	ENSP00000372228:A431T;ENSP00000261632:A422T;ENSP00000323580:A431T;ENSP00000437719:A403T	ENSP00000323580:A431T	A	+	1	0	IFT88	20097953	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.349000	0.97066	2.673000	0.90976	0.585000	0.79938	GCA		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		17	18	0	0	0	1	0	17	18				
EFHD2	79180	broad.mit.edu	37	1	15736730	15736730	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15736730A>G	ENST00000375980.4	+	1	340	c.263A>G	c.(262-264)gAg>gGg	p.E88G	RP3-467K16.4_ENST00000427824.1_lincRNA	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	88						membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTCAAGGAGTTCTCCAGG	0.682																																						ENST00000375980.4																			0				large_intestine(1)|skin(1)	2						c.(262-264)gAg>gGg		EF-hand domain family, member D2							37.0	43.0	41.0					1																	15736730		2203	4298	6501	SO:0001583	missense	79180					membrane raft		g.chr1:15736730A>G	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.263A>G	1.37:g.15736730A>G	ENSP00000365147:p.Glu88Gly						p.E88G	NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	1	340	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	88					Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	37	c.263A>G	CCDS155.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145595	0.77888	.	.	ENSG00000142634	ENST00000375980	T	0.54279	0.58	3.47	3.47	0.39725	EF-hand-like domain (1);	0.205798	0.31721	U	0.007161	T	0.61602	0.2360	M	0.75447	2.3	0.80722	D	1	P	0.51537	0.946	P	0.52957	0.714	T	0.66578	-0.5888	10	0.87932	D	0	-20.5699	9.9303	0.41519	1.0:0.0:0.0:0.0	.	88	Q96C19	EFHD2_HUMAN	G	88	ENSP00000365147:E88G	ENSP00000365147:E88G	E	+	2	0	EFHD2	15609317	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.884000	0.87274	1.431000	0.47355	0.164000	0.16699	GAG		0.682	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329		11	14	0	0	0	1	0	11	14				
FAM21C	253725	broad.mit.edu	37	10	46233431	46233431	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46233431C>T	ENST00000336378.4	+	4	410	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	FAM21C_ENST00000537517.1_Splice_Site_p.R98C|FAM21C_ENST00000374362.2_Splice_Site_p.R98C|FAM21C_ENST00000359860.4_Splice_Site_p.R42C|FAM21C_ENST00000540872.1_Splice_Site_p.R98C	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	98					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCATATTTAGCGTGTATATGA	0.378																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e4-1		family with sequence similarity 21, member C							13.0	13.0	13.0					10																	46233431		1761	4009	5770	SO:0001630	splice_region_variant	253725							g.chr10:46233431C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.292-1C>T	10.37:g.46233431C>T						FAM21C_ENST00000540872.1_Splice_Site_p.R98_splice|FAM21C_ENST00000359860.4_Splice_Site_p.R42_splice|FAM21C_ENST00000374362.2_Splice_Site_p.R98_splice|FAM21C_ENST00000537517.1_Splice_Site_p.R98_splice	p.R98_splice	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			4	410	+			98					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Splice_Site	SNP	ENST00000336378.4	37	c.291_splice		.	.	.	.	.	.	.	.	.	.	C	14.97	2.694672	0.48202	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	M	0.85710	2.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.79732	-0.1680	8	.	.	.	-9.1461	8.7976	0.34890	0.2249:0.7751:0.0:0.0	.	98;98;98;43	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	C	98;98;98;98;98;42;43;10	.	.	R	+	1	0	FAM21C	45553437	1.000000	0.71417	0.997000	0.53966	0.528000	0.34623	2.551000	0.45820	2.012000	0.59069	0.500000	0.49745	CGT		0.378	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Missense_Mutation	21	33	0	0	0	1	0	21	33				
ZNF211	10520	broad.mit.edu	37	19	58152510	58152510	+	Missense_Mutation	SNP	C	C	T	rs191070229	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58152510C>T	ENST00000347302.3	+	3	835	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ZNF211_ENST00000544273.1_Missense_Mutation_p.A231V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A232V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A158V|ZNF211_ENST00000299871.5_Missense_Mutation_p.A284V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A210V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A210V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A223V	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	219					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.A232V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAGTGTGCGGTGGCCTTT	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		21546	0.0		0.002	False		,,,				2504	0.0					ENST00000544273.1																			1	Substitution - Missense(1)	p.A232V(1)	lung(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(691-693)gCg>gTg		zinc finger protein 211							60.0	61.0	61.0					19																	58152510		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152510C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.656C>T	19.37:g.58152510C>T	ENSP00000339562:p.Ala219Val					ZNF211_ENST00000299871.5_Missense_Mutation_p.A284V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A158V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A210V|ZNF211_ENST00000347302.3_Missense_Mutation_p.A219V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A210V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A232V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A223V	p.A231V			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1019	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	219					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.692C>T	CCDS12957.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.018	-1.478997	0.01035	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	3.24	-6.49	0.01890	.	.	.	.	.	T	0.05686	0.0149	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B	0.28178	0.009;0.004;0.001;0.202;0.002;0.002	B;B;B;B;B;B	0.15052	0.002;0.001;0.002;0.012;0.001;0.001	T	0.22556	-1.0213	9	0.37606	T	0.19	.	0.9109	0.01295	0.2927:0.1912:0.3258:0.1903	.	223;231;284;210;219;232	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	V	223;219;210;158;210;284;231;232	ENSP00000399193:A223V;ENSP00000339562:A219V;ENSP00000254182:A210V;ENSP00000375584:A158V;ENSP00000442601:A210V;ENSP00000299871:A284V;ENSP00000441386:A231V;ENSP00000240731:A232V	ENSP00000240731:A232V	A	+	2	0	ZNF211	62844322	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.308000	0.01131	-2.446000	0.00546	-1.221000	0.01599	GCG		0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			12	49	0	0	0	1	0	12	49				
GPR162	27239	broad.mit.edu	37	12	6935455	6935455	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6935455G>T	ENST00000311268.3	+	4	1939	c.1152G>T	c.(1150-1152)caG>caT	p.Q384H	GPR162_ENST00000382315.3_Missense_Mutation_p.Q80H|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.Q100H	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	384						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACCCCGCCCAGGTGAAGCTGC	0.577											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1150-1152)caG>caT		G protein-coupled receptor 162							51.0	52.0	52.0					12																	6935455		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6935455G>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1152G>T	12.37:g.6935455G>T	ENSP00000311528:p.Gln384His		OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	GPR162_ENST00000428545.2_Missense_Mutation_p.Q100H|GPR162_ENST00000382315.3_Missense_Mutation_p.Q80H	p.Q384H	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			4	1939	+			384					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.1152G>T	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329555	0.60743	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.46063	3.04;0.88;0.88	4.87	1.5	0.22942	.	.	.	.	.	T	0.28466	0.0704	N	0.22421	0.69	0.25855	N	0.983898	P;P;B	0.43352	0.804;0.799;0.191	B;P;B	0.44990	0.362;0.466;0.135	T	0.12293	-1.0553	9	0.46703	T	0.11	.	2.0648	0.03600	0.2972:0.1354:0.4441:0.1233	.	168;100;384	Q13513;Q16538-2;Q16538	.;.;GP162_HUMAN	H	384;100;80	ENSP00000311528:Q384H;ENSP00000399670:Q100H;ENSP00000371752:Q80H	ENSP00000311528:Q384H	Q	+	3	2	GPR162	6805716	0.954000	0.32549	1.000000	0.80357	0.776000	0.43924	-0.225000	0.09151	0.435000	0.26365	0.491000	0.48974	CAG		0.577	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		17	21	1	0	0.00400662	1	0.00405773	17	21				
PIWIL2	55124	broad.mit.edu	37	8	22211821	22211821	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22211821G>A	ENST00000454009.2	+	22	3204	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S	PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G899S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	899	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGTACGGCAGGGCTGTGGCAT	0.478																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2695-2697)Ggc>Agc		piwi-like RNA-mediated gene silencing 2							204.0	165.0	178.0					8																	22211821		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211821G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2695G>A	8.37:g.22211821G>A	ENSP00000406956:p.Gly899Ser					PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G899S	p.G899S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2843	+			899			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2695G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116390	0.94385	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.56275	0.47;0.47	4.49	4.49	0.54785	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85871	0.1416	10	0.87932	D	0	-21.2404	16.3803	0.83458	0.0:0.0:1.0:0.0	.	899	Q8TC59	PIWL2_HUMAN	S	899	ENSP00000349208:G899S;ENSP00000406956:G899S	ENSP00000349208:G899S	G	+	1	0	PIWIL2	22267766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.555000	0.98123	2.238000	0.73509	0.556000	0.70494	GGC		0.478	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			36	62	0	0	0	1	0	36	62				
STX16	8675	broad.mit.edu	37	20	57246283	57246283	+	Missense_Mutation	SNP	G	G	A	rs148806774		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57246283G>A	ENST00000371141.4	+	7	1446	c.722G>A	c.(721-723)cGc>cAc	p.R241H	STX16_ENST00000496003.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.R220H|STX16_ENST00000355957.5_Missense_Mutation_p.R224H|STX16_ENST00000359617.4_Missense_Mutation_p.R188H|STX16_ENST00000361830.3_Missense_Mutation_p.R241H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R241H|STX16_ENST00000358029.4_Missense_Mutation_p.R237H|STX16_ENST00000361770.5_Missense_Mutation_p.R224H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	241	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CGAGAGATTCGCCAGATTGTA	0.488																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(721-723)cGc>cAc		syntaxin 16							146.0	132.0	137.0					20																	57246283		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57246283G>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.722G>A	20.37:g.57246283G>A	ENSP00000360183:p.Arg241His					STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R241H|STX16_ENST00000359617.4_Missense_Mutation_p.R188H|STX16_ENST00000358029.4_Missense_Mutation_p.R237H|STX16_ENST00000361830.3_Missense_Mutation_p.R241H|STX16_ENST00000361770.5_Missense_Mutation_p.R224H|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Missense_Mutation_p.R224H|STX16_ENST00000371132.4_Missense_Mutation_p.R220H	p.R241H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		7	1446	+	all_lung(29;0.0175)		241			t-SNARE coiled-coil homology.		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.722G>A	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639042	0.47153	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	T;T;T;T;T;T;T;T	0.46819	1.88;1.88;0.86;1.88;1.88;1.88;1.88;1.88	5.79	2.79	0.32731	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	U	0.000000	T	0.36276	0.0961	L	0.42529	1.33	0.49483	D	0.999794	B;B;P;B	0.37122	0.013;0.01;0.583;0.011	B;B;B;B	0.36335	0.025;0.01;0.222;0.027	T	0.08722	-1.0708	10	0.46703	T	0.11	.	7.5975	0.28056	0.1402:0.0:0.725:0.1349	.	237;224;220;241	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	224;224;188;188;241;188;220;237;241;55	ENSP00000348229:R224H;ENSP00000355408:R224H;ENSP00000312086:R188H;ENSP00000352634:R188H;ENSP00000360183:R241H;ENSP00000360173:R220H;ENSP00000350723:R237H;ENSP00000354445:R241H	ENSP00000360180:R188H	R	+	2	0	STX16	56679689	1.000000	0.71417	0.857000	0.33713	0.443000	0.32047	4.532000	0.60608	0.362000	0.24319	0.650000	0.86243	CGC		0.488	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		21	34	0	0	0	1	0	21	34				
PRDM2	7799	broad.mit.edu	37	1	14105419	14105419	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:14105419C>T	ENST00000235372.7	+	8	1985	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PRDM2_ENST00000311066.5_Missense_Mutation_p.R377C|PRDM2_ENST00000343137.4_Missense_Mutation_p.R176C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R176C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGGGCTTGAGCGTCACATGCA	0.453																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1129-1131)Cgt>Tgt		PR domain containing 2, with ZNF domain							120.0	113.0	115.0					1																	14105419		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105419C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1129C>T	1.37:g.14105419C>T	ENSP00000235372:p.Arg377Cys					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R377C|PRDM2_ENST00000343137.4_Missense_Mutation_p.R176C|PRDM2_ENST00000413440.1_Missense_Mutation_p.R176C|PRDM2_ENST00000376048.5_Intron	p.R377C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1985	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	377					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1129C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389576	0.61956	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93164	0.6560	10	0.87932	D	0	.	17.925	0.88980	0.0:1.0:0.0:0.0	.	377;235;377;377	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	C	377;377;377;176;176	ENSP00000235372:R377C;ENSP00000312352:R377C;ENSP00000411103:R176C;ENSP00000341621:R176C	ENSP00000235372:R377C	R	+	1	0	PRDM2	13978006	1.000000	0.71417	0.778000	0.31720	0.971000	0.66376	7.487000	0.81328	2.564000	0.86499	0.561000	0.74099	CGT		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		22	40	0	0	0	1	0	22	40				
SEC16A	9919	broad.mit.edu	37	9	139370681	139370681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139370681C>A	ENST00000371706.3	-	1	886	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E285*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.E463*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E285*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	285					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAACAAATTCTAAGTTCTCA	0.562																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1387-1389)Gaa>Taa		SEC16 homolog A (S. cerevisiae)							56.0	67.0	63.0					9																	139370681		2068	4242	6310	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370681C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.853G>T	9.37:g.139370681C>A	ENSP00000360771:p.Glu285*					SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E285*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E285*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E285*	p.E463*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1460	-		Myeloproliferative disorder(178;0.0511)	285					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.1387G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.440681	0.97568	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	5.2	5.2	0.72013	.	0.055638	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.1434	18.08	0.89439	0.0:1.0:0.0:0.0	.	.	.	.	X	463;285;285;285;90	.	ENSP00000290037:E285X	E	-	1	0	SEC16A	138490502	1.000000	0.71417	0.157000	0.22605	0.825000	0.46686	7.634000	0.83273	2.594000	0.87642	0.655000	0.94253	GAA		0.562	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	57	1	0	0.00024832	1	0.000253518	4	57				
DNAH5	1767	broad.mit.edu	37	5	13841205	13841205	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13841205C>T	ENST00000265104.4	-	34	5623	c.5519G>A	c.(5518-5520)cGg>cAg	p.R1840Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1840	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGAATCCCGTGTCCATAT	0.328									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5518-5520)cGg>cAg		dynein, axonemal, heavy chain 5							110.0	108.0	108.0					5																	13841205		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841205C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5519G>A	5.37:g.13841205C>T	ENSP00000265104:p.Arg1840Gln						p.R1840Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			34	5623	-	Lung NSC(4;0.00476)		1840			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5519G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124370	0.77436	.	.	ENSG00000039139	ENST00000265104	T	0.23754	1.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.74467	2.265	0.58432	D	0.999995	P	0.44090	0.826	B	0.33121	0.158	T	0.16748	-1.0392	10	0.35671	T	0.21	.	18.9863	0.92771	0.0:1.0:0.0:0.0	.	1840	Q8TE73	DYH5_HUMAN	Q	1840	ENSP00000265104:R1840Q	ENSP00000265104:R1840Q	R	-	2	0	DNAH5	13894205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.728000	0.62000	2.729000	0.93468	0.655000	0.94253	CGG		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		27	47	0	0	0	1	0	27	47				
ATP2B3	492	broad.mit.edu	37	X	152815040	152815040	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:152815040C>T	ENST00000349466.2	+	10	1750	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	ATP2B3_ENST00000359149.3_Missense_Mutation_p.T475M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T461M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T475M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T461M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.T461M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	475					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGACAAGACGGGCACGCTC	0.592																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1381-1383)aCg>aTg		ATPase, Ca++ transporting, plasma membrane 3							180.0	139.0	153.0					X																	152815040		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815040C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1424C>T	X.37:g.152815040C>T	ENSP00000343886:p.Thr475Met					ATP2B3_ENST00000370181.2_Missense_Mutation_p.T461M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T475M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T461M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T475M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T475M	p.T461M			Q16720	AT2B3_HUMAN			9	1708	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		475					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1382C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.435671	0.83885	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	4.89	4.89	0.63831	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.99800	4.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.97844	1.0270	10	0.87932	D	0	-18.1925	15.992	0.80214	0.0:1.0:0.0:0.0	.	475;475	Q16720;Q16720-2	AT2B3_HUMAN;.	M	461;475;461;475;475;461	ENSP00000359205:T461M;ENSP00000343886:T475M;ENSP00000377425:T461M;ENSP00000352062:T475M;ENSP00000263519:T475M;ENSP00000359200:T461M	ENSP00000263519:T475M	T	+	2	0	ATP2B3	152468234	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.781000	0.85668	2.023000	0.59567	0.525000	0.51046	ACG		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		5	19	0	0	0	1	0	5	19				
CHAD	1101	broad.mit.edu	37	17	48542708	48542708	+	Missense_Mutation	SNP	C	C	T	rs146998244		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48542708C>T	ENST00000508540.1	-	3	1183	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	CHAD_ENST00000258969.4_Missense_Mutation_p.R344H|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	344	LRRCT.				bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTTGCAGCTGCGGAAGGCGTC	0.607																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(1030-1032)cGc>cAc		chondroadherin		C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	62.0	55.0	57.0		1031,	5.1	1.0	17	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	CHAD,ACSF2	NM_001267.2,NM_025149.4	29,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,	344/360,	48542708	2,13004	2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48542708C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.1031G>A	17.37:g.48542708C>T	ENSP00000423812:p.Arg344His					ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R344H|ACSF2_ENST00000504392.1_Intron	p.R344H	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		3	1183	-	Breast(11;1.93e-18)		344			LRRCT.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.1031G>A	CCDS11568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.045357|4.045357	0.75846|0.75846	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000136457|ENSG00000136457	ENST00000506187|ENST00000508540;ENST00000258969	.|T;T	.|0.55930	.|0.49;0.49	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Cysteine-rich flanking region, C-terminal (1);	.|0.324515	.|0.33005	.|N	.|0.005398	T|T	0.56659|0.56659	0.2000|0.2000	L|L	0.58810|0.58810	1.83|1.83	0.42695|0.42695	D|D	0.993598|0.993598	.|D	.|0.62365	.|0.991	.|P	.|0.46320	.|0.512	T|T	0.60806|0.60806	-0.7190|-0.7190	5|10	.|0.44086	.|T	.|0.13	.|.	18.5806|18.5806	0.91170|0.91170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|344	.|O15335	.|CHAD_HUMAN	T|H	27|344	.|ENSP00000423812:R344H;ENSP00000258969:R344H	.|ENSP00000258969:R344H	A|R	-|-	1|2	0|0	CHAD|CHAD	45897707|45897707	0.946000|0.946000	0.32159|0.32159	0.994000|0.994000	0.49952|0.49952	0.942000|0.942000	0.58702|0.58702	1.975000|1.975000	0.40569|0.40569	2.380000|2.380000	0.81148|0.81148	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.607	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		14	20	0	0	0	1	0	14	20				
SCN4A	6329	broad.mit.edu	37	17	62019306	62019306	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62019306G>A	ENST00000435607.1	-	24	4412	c.4336C>T	c.(4336-4338)Ctg>Ttg	p.L1446L	SCN4A_ENST00000578147.1_Silent_p.L1446L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1446					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACGGAACAGCGTGGGTGAC	0.662																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4336-4338)Ctg>Ttg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						32.0	32.0	32.0					17																	62019306		2196	4288	6484	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62019306G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4336C>T	17.37:g.62019306G>A						SCN4A_ENST00000578147.1_Silent_p.L1446L	p.L1446L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	4412	-			1446					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4336C>T	CCDS45761.1																																																																																				0.662	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	7	0	0	0	1	0	6	7				
MYOF	26509	broad.mit.edu	37	10	95103666	95103666	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95103666A>G	ENST00000359263.4	-	38	4272	c.4273T>C	c.(4273-4275)Tgc>Cgc	p.C1425R	MYOF_ENST00000371502.4_Missense_Mutation_p.C1425R|MYOF_ENST00000371501.4_Missense_Mutation_p.C1425R|MYOF_ENST00000358334.5_Missense_Mutation_p.C1412R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1425					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGTCCCGGCATGGTGGGGCA	0.423																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4273-4275)Tgc>Cgc		myoferlin							115.0	113.0	114.0					10																	95103666		1938	4128	6066	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95103666A>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4273T>C	10.37:g.95103666A>G	ENSP00000352208:p.Cys1425Arg					MYOF_ENST00000358334.5_Missense_Mutation_p.C1412R|MYOF_ENST00000359263.4_Missense_Mutation_p.C1425R|MYOF_ENST00000371502.4_Missense_Mutation_p.C1425R	p.C1425R			Q9NZM1	MYOF_HUMAN			38	4395	-			1425					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4273T>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	A	5.212	0.224577	0.09916	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82255	-1.58;-1.58;-1.59;-1.56	5.86	-4.87	0.03123	.	1.452040	0.03537	N	0.223326	T	0.50752	0.1634	N	0.00841	-1.15	0.27269	N	0.958421	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46789	-0.9166	10	0.22706	T	0.39	-0.8988	2.4218	0.04450	0.1826:0.1349:0.4178:0.2648	.	1412;1425	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1412;1425;1425;1425	ENSP00000351094:C1412R;ENSP00000352208:C1425R;ENSP00000360556:C1425R;ENSP00000360557:C1425R	ENSP00000351094:C1412R	C	-	1	0	MYOF	95093656	0.416000	0.25424	0.804000	0.32291	0.719000	0.41307	0.512000	0.22755	-0.361000	0.08125	-0.256000	0.11100	TGC		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		23	25	0	0	0	1	0	23	25				
TMTC4	84899	broad.mit.edu	37	13	101287436	101287436	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101287436C>T	ENST00000376234.3	-	10	1348	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.G406S|TMTC4_ENST00000328767.5_Missense_Mutation_p.G276S	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	387						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATCCCAGGCCCAGAGTAAGG	0.458																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1216-1218)Ggc>Agc		transmembrane and tetratricopeptide repeat containing 4							31.0	29.0	30.0					13																	101287436		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101287436C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1159G>A	13.37:g.101287436C>T	ENSP00000365408:p.Gly387Ser					TMTC4_ENST00000376234.3_Missense_Mutation_p.G387S|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.G276S	p.G406S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			11	1474	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		387					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1216G>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735561	0.69189	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.49432	0.78;0.78;0.78	5.4	5.4	0.78164	.	0.048228	0.85682	D	0.000000	T	0.45316	0.1336	L	0.35249	1.045	0.58432	D	0.999999	B;P;P;B	0.46656	0.403;0.882;0.602;0.433	B;P;B;B	0.46362	0.222;0.514;0.208;0.272	T	0.18681	-1.0329	10	0.20519	T	0.43	.	19.2049	0.93726	0.0:1.0:0.0:0.0	.	276;387;387;406	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	S	387;406;276	ENSP00000365408:G387S;ENSP00000343871:G406S;ENSP00000365409:G276S	ENSP00000365409:G276S	G	-	1	0	TMTC4	100085437	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.800000	0.69108	2.527000	0.85204	0.563000	0.77884	GGC		0.458	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		3	3	0	0	0	1	0	3	3				
RNF213	57674	broad.mit.edu	37	17	78360611	78360611	+	Missense_Mutation	SNP	G	G	A	rs375652626		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78360611G>A	ENST00000582970.1	+	63	14985	c.14842G>A	c.(14842-14844)Gtg>Atg	p.V4948M	RNF213_ENST00000508628.2_Missense_Mutation_p.V4997M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V3021M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4948					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAGAGACCGTGCAGGAGTT	0.587																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(14842-14844)Gtg>Atg		ring finger protein 213		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69.0	61.0	63.0		14989	-10.1	0.0	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF213	NM_020914.4	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	4997/5257	78360611	2,13004	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78360611G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14842G>A	17.37:g.78360611G>A	ENSP00000464087:p.Val4948Met					CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V3021M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4997M|RNF213_ENST00000427003.3_3'UTR	p.V4948M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		63	14985	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.14842G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	3.868	-0.028520	0.07589	2.27E-4	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22336	1.96	5.04	-10.1	0.00402	.	0.753361	0.11569	N	0.550983	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B	0.19706	0.038	B	0.06405	0.002	T	0.16600	-1.0397	10	0.33141	T	0.24	.	5.8731	0.18814	0.0809:0.1618:0.1625:0.5949	.	3021	Q63HN8	RN213_HUMAN	M	4948;4997;3021;298	ENSP00000338218:V3021M	ENSP00000338218:V3021M	V	+	1	0	RNF213	75975206	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.107000	0.10873	-1.894000	0.01105	-2.172000	0.00323	GTG		0.587	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	14	0	0	0	1	0	9	14				
ZSWIM5	57643	broad.mit.edu	37	1	45484894	45484894	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45484894G>A	ENST00000359600.5	-	14	2995	c.2790C>T	c.(2788-2790)caC>caT	p.H930H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	930						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGATAGTGGTGTGGGATACGG	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2788-2790)caC>caT		zinc finger, SWIM-type containing 5							44.0	46.0	46.0					1																	45484894		1985	4141	6126	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45484894G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2790C>T	1.37:g.45484894G>A			OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.H930H	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			14	2995	-	Acute lymphoblastic leukemia(166;0.155)		930					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2790C>T	CCDS41319.1																																																																																				0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		17	16	0	0	0	1	0	17	16				
PLXNA2	5362	broad.mit.edu	37	1	208215586	208215586	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:208215586G>A	ENST00000367033.3	-	22	4900	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1381					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCCGGTCGCGCATGGAGA	0.587																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4141-4143)cgC>cgT		plexin A2							97.0	95.0	95.0					1																	208215586		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208215586G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4143C>T	1.37:g.208215586G>A							p.R1381R	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	22	4900	-			1381					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.4143C>T	CCDS31013.1																																																																																				0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		18	14	0	0	0	1	0	18	14				
FLNB	2317	broad.mit.edu	37	3	58107209	58107209	+	Silent	SNP	G	G	A	rs541935783		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58107209G>A	ENST00000295956.4	+	20	3270	c.3105G>A	c.(3103-3105)tcG>tcA	p.S1035S	FLNB_ENST00000429972.2_Silent_p.S1035S|FLNB_ENST00000493452.1_Silent_p.S866S|FLNB_ENST00000358537.3_Silent_p.S1035S|FLNB_ENST00000357272.4_Silent_p.S1035S|FLNB_ENST00000348383.5_Silent_p.S1035S|FLNB_ENST00000419752.2_Silent_p.S866S|FLNB_ENST00000490882.1_Silent_p.S1035S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1035					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGAGGCCTCGCTGCCACCAG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20558	0.0		0.0	False		,,,				2504	0.001					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3103-3105)tcG>tcA		filamin B, beta							92.0	98.0	96.0					3																	58107209		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58107209G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3105G>A	3.37:g.58107209G>A						FLNB_ENST00000490882.1_Silent_p.S1035S|FLNB_ENST00000295956.4_Silent_p.S1035S|FLNB_ENST00000493452.1_Silent_p.S866S|FLNB_ENST00000358537.3_Silent_p.S1035S|FLNB_ENST00000429972.2_Silent_p.S1035S|FLNB_ENST00000419752.2_Silent_p.S866S|FLNB_ENST00000348383.5_Silent_p.S1035S	p.S1035S			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3270	+			1035					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3105G>A	CCDS2885.1																																																																																				0.572	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		32	54	0	0	0	1	0	32	54				
CAMK1G	57172	broad.mit.edu	37	1	209785232	209785232	+	Silent	SNP	G	G	A	rs142610896	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:209785232G>A	ENST00000009105.1	+	11	1256	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.P337P			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	337						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGAACAGGCCGCCTGAAACTC	0.597																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(1009-1011)ccG>ccA		calcium/calmodulin-dependent protein kinase IG		G		1,4405	2.1+/-5.4	0,1,2202	80.0	89.0	86.0		1011	-10.9	0.0	1	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	CAMK1G	NM_020439.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		337/477	209785232	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785232G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1011G>A	1.37:g.209785232G>A						CAMK1G_ENST00000361322.2_Silent_p.P337P|CAMK1G_ENST00000494990.1_3'UTR	p.P337P			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1256	+			337					Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.1011G>A	CCDS1486.1																																																																																				0.597	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		19	32	0	0	0	1	0	19	32				
TAC4	255061	broad.mit.edu	37	17	47925338	47925338	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47925338G>A	ENST00000334568.4	-	1	41	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000352793.2_Silent_p.S14S|TAC4_ENST00000326219.5_Silent_p.S14S|TAC4_ENST00000436235.1_Silent_p.S14S|TAC4_ENST00000398154.1_Silent_p.S14S	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						CAGTGCACACGGACAGCTCCA	0.577																																						ENST00000334568.4																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(40-42)tcC>tcT		tachykinin 4 (hemokinin)							94.0	95.0	95.0					17																	47925338		2120	4249	6369	SO:0001819	synonymous_variant	255061				regulation of blood pressure	extracellular region		g.chr17:47925338G>A	AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"""Endogenous ligands"""	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.42C>T	17.37:g.47925338G>A						TAC4_ENST00000398154.1_Silent_p.S14S|RP11-304F15.3_ENST00000376609.1_RNA|TAC4_ENST00000326219.5_Silent_p.S14S|TAC4_ENST00000352793.2_Silent_p.S14S|TAC4_ENST00000436235.1_Silent_p.S14S	p.S14S	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN			1	41	-			14						Silent	SNP	ENST00000334568.4	37	c.42C>T	CCDS42357.1																																																																																				0.577	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366198.1	NM_170685		13	22	0	0	0	1	0	13	22				
ZSWIM3	140831	broad.mit.edu	37	20	44505965	44505965	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44505965G>A	ENST00000255152.2	+	2	977	c.768G>A	c.(766-768)gcG>gcA	p.A256A	ZSWIM3_ENST00000454862.2_Silent_p.A250A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	256							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGCTCAAGGCGGAGACAGTCA	0.527																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(766-768)gcG>gcA		zinc finger, SWIM-type containing 3							75.0	71.0	73.0					20																	44505965		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44505965G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.768G>A	20.37:g.44505965G>A						ZSWIM3_ENST00000454862.2_Silent_p.A250A	p.A256A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	977	+		Myeloproliferative disorder(115;0.0122)	256					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.768G>A	CCDS13381.1																																																																																				0.527	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		28	24	0	0	0	1	0	28	24				
DPT	1805	broad.mit.edu	37	1	168683472	168683472	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:168683472G>A	ENST00000367817.3	-	2	507	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	140	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGGAATATGGGCACCTCTTG	0.567																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(418-420)Cca>Tca		dermatopontin							82.0	73.0	76.0					1																	168683472		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168683472G>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.418C>T	1.37:g.168683472G>A	ENSP00000356791:p.Pro140Ser						p.P140S	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			2	507	-	all_hematologic(923;0.208)		140			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.418C>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190189	0.38707	.	.	ENSG00000143196	ENST00000367817	T	0.41065	1.01	5.81	5.81	0.92471	.	0.052314	0.85682	D	0.000000	T	0.17023	0.0409	L	0.31926	0.97	0.44055	D	0.996796	B	0.21753	0.06	B	0.23419	0.046	T	0.06716	-1.0811	9	0.18710	T	0.47	-5.2217	12.2148	0.54400	0.0788:0.0:0.9212:0.0	.	140	Q07507	DERM_HUMAN	S	140	ENSP00000356791:P140S	ENSP00000356791:P140S	P	-	1	0	DPT	166950096	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	5.837000	0.69381	2.746000	0.94184	0.655000	0.94253	CCA		0.567	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		13	12	0	0	0	1	0	13	12				
GPR45	11250	broad.mit.edu	37	2	105858660	105858660	+	Missense_Mutation	SNP	G	G	T	rs112707014		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:105858660G>T	ENST00000258456.1	+	1	461	c.345G>T	c.(343-345)tgG>tgT	p.W115C		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGCTCTACTGGTTTTTTGTCC	0.627																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(343-345)tgG>tgT		G protein-coupled receptor 45							73.0	74.0	74.0					2																	105858660		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858660G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.345G>T	2.37:g.105858660G>T	ENSP00000258456:p.Trp115Cys						p.W115C	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	461	+			115					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.345G>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355893	0.61293	.	.	ENSG00000135973	ENST00000258456	T	0.71341	-0.56	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.83644	0.0152	10	0.66056	D	0.02	-18.4725	12.7943	0.57551	0.0821:0.0:0.9179:0.0	.	115	Q9Y5Y3	GPR45_HUMAN	C	115	ENSP00000258456:W115C	ENSP00000258456:W115C	W	+	3	0	GPR45	105225092	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.654000	0.67974	2.337000	0.79520	0.462000	0.41574	TGG		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	35	1	0	1.12685e-05	1	1.16601e-05	9	35				
COL24A1	255631	broad.mit.edu	37	1	86210460	86210460	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86210460G>T	ENST00000370571.2	-	57	4927	c.4561C>A	c.(4561-4563)Ctg>Atg	p.L1521M	COL24A1_ENST00000436319.1_Missense_Mutation_p.L1500M	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1521	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGTAGTTCAGGGTTTTGAAT	0.368																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4561-4563)Ctg>Atg		collagen, type XXIV, alpha 1							187.0	175.0	179.0					1																	86210460		1875	4095	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210460G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4561C>A	1.37:g.86210460G>T	ENSP00000359603:p.Leu1521Met					COL24A1_ENST00000436319.1_Missense_Mutation_p.L1500M	p.L1521M	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4927	-			1521			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4561C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642288	0.47153	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94232	-3.38;-3.16	5.49	3.53	0.40419	Fibrillar collagen, C-terminal (2);	0.728188	0.11826	N	0.525690	D	0.95348	0.8490	M	0.80746	2.51	0.50039	D	0.99984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93220	0.6608	10	0.72032	D	0.01	.	10.2384	0.43297	0.2242:0.0:0.7758:0.0	.	1521;1500	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	M	1521;1500	ENSP00000359603:L1521M;ENSP00000392531:L1500M	ENSP00000359603:L1521M	L	-	1	2	COL24A1	85983048	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	3.265000	0.51561	0.719000	0.32188	0.563000	0.77884	CTG		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		22	46	1	0	0.000175454	1	0.00017952	22	46				
TIE1	7075	broad.mit.edu	37	1	43778104	43778104	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43778104G>A	ENST00000372476.3	+	12	1838	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	TIE1_ENST00000433781.2_Missense_Mutation_p.G232R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	587	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGTGGGACGGGACACGGGG	0.692																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1759-1761)Ggg>Agg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							39.0	40.0	40.0					1																	43778104		2202	4298	6500	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778104G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1759G>A	1.37:g.43778104G>A	ENSP00000361554:p.Gly587Arg					TIE1_ENST00000433781.2_Missense_Mutation_p.G232R	p.G587R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			12	1838	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	587			Fibronectin type-III 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1759G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	9.083	0.999853	0.19121	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.56444	0.46;0.46	5.29	4.34	0.51931	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.192177	0.25642	N	0.029268	T	0.36468	0.0968	N	0.14661	0.345	0.09310	N	0.999999	P;D;P;P;D	0.61080	0.676;0.977;0.882;0.723;0.989	B;P;B;B;P	0.47118	0.196;0.538;0.323;0.296;0.538	T	0.14144	-1.0483	10	0.22109	T	0.4	.	9.3944	0.38392	0.0:0.251:0.5974:0.1515	.	232;542;587;232;587	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	R	587;232	ENSP00000361554:G587R;ENSP00000411728:G232R	ENSP00000361554:G587R	G	+	1	0	TIE1	43550691	0.986000	0.35501	0.644000	0.29465	0.231000	0.25187	0.920000	0.28705	2.461000	0.83175	0.563000	0.77884	GGG		0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		10	23	0	0	0	1	0	10	23				
PLEKHO1	51177	broad.mit.edu	37	1	150131408	150131408	+	Missense_Mutation	SNP	G	G	A	rs140096240	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150131408G>A	ENST00000369124.4	+	6	1198	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R124Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R273Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	307	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCTGTCCCGGATCCAGGAC	0.647																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(919-921)cGg>cAg		pleckstrin homology domain containing, family O member 1		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	33.0	39.0	37.0		920	5.2	1.0	1	dbSNP_134	37	0,8600		0,0,4300	yes	missense	PLEKHO1	NM_016274.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	307/410	150131408	2,13004	2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131408G>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.920G>A	1.37:g.150131408G>A	ENSP00000358120:p.Arg307Gln					PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R124Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R273Q	p.R307Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1198	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		307			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.920G>A	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451082	0.63290	4.54E-4	0.0	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.42131	1.01;0.98	5.24	5.24	0.73138	.	0.282861	0.36740	N	0.002426	T	0.15739	0.0379	L	0.27053	0.805	0.48830	D	0.999713	B	0.24533	0.105	B	0.15484	0.013	T	0.03795	-1.1003	10	0.32370	T	0.25	-31.287	11.4224	0.49989	0.0815:0.0:0.9185:0.0	.	307	Q53GL0	PKHO1_HUMAN	Q	124;273;307;187	ENSP00000025469:R273Q;ENSP00000358120:R307Q	ENSP00000025469:R273Q	R	+	2	0	PLEKHO1	148398032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.948000	0.49066	2.726000	0.93360	0.655000	0.94253	CGG		0.647	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		8	22	0	0	0	1	0	8	22				
CNOT2	4848	broad.mit.edu	37	12	70724123	70724123	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:70724123G>A	ENST00000418359.3	+	7	894	c.443G>A	c.(442-444)gGc>gAc	p.G148D	CNOT2_ENST00000229195.3_Missense_Mutation_p.G148D|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	148					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GTTGGTCAGGGCATTGGAATT	0.443																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(442-444)gGc>gAc		CCR4-NOT transcription complex, subunit 2							121.0	114.0	116.0					12																	70724123		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70724123G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.443G>A	12.37:g.70724123G>A	ENSP00000412091:p.Gly148Asp					CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.G148D	p.G148D	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		6	1022	+	Renal(347;0.236)		148					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.443G>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770413	0.69992	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.53423	0.62;0.62;0.64;0.62	5.55	5.55	0.83447	.	0.044673	0.85682	D	0.000000	T	0.51702	0.1690	L	0.32530	0.975	0.80722	D	1	D	0.56521	0.976	P	0.51918	0.684	T	0.50136	-0.8863	10	0.51188	T	0.08	-5.1	19.8769	0.96880	0.0:0.0:1.0:0.0	.	148	Q9NZN8	CNOT2_HUMAN	D	148;148;148;128;139;148;148;63;148	ENSP00000229195:G148D;ENSP00000412091:G148D;ENSP00000449659:G139D;ENSP00000449260:G148D	ENSP00000229195:G148D	G	+	2	0	CNOT2	69010390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.511000	0.81718	2.767000	0.95098	0.557000	0.71058	GGC		0.443	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			43	48	0	0	0	1	0	43	48				
OR51A4	401666	broad.mit.edu	37	11	4968093	4968093	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:4968093G>T	ENST00000380373.2	-	1	263	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGGCAGAGATGATAAA	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(238-240)Ctg>Atg		olfactory receptor, family 51, subfamily A, member 4							131.0	123.0	126.0					11																	4968093		2196	4298	6494	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4968093G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.238C>A	11.37:g.4968093G>T	ENSP00000369731:p.Leu80Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L80M	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	263	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	80						Missense_Mutation	SNP	ENST00000380373.2	37	c.238C>A	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854896	0.17106	.	.	ENSG00000205497	ENST00000380373	T	0.00451	7.35	3.56	0.392	0.16288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.59967	1.855	0.09310	N	1	D	0.60575	0.988	D	0.71414	0.973	T	0.53287	-0.8460	9	0.44086	T	0.13	.	1.3834	0.02235	0.1782:0.3545:0.2866:0.1807	.	80	Q8NGJ6	O51A4_HUMAN	M	80	ENSP00000369731:L80M	ENSP00000369731:L80M	L	-	1	2	OR51A4	4924669	0.000000	0.05858	0.015000	0.15790	0.233000	0.25261	-1.732000	0.01851	0.260000	0.21731	0.567000	0.79289	CTG		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		42	56	1	0	5.20006e-24	1	5.79904e-24	42	56				
MEIS2	4212	broad.mit.edu	37	15	37391664	37391664	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37391664C>T	ENST00000561208.1	-	1	422	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	MEIS2_ENST00000444725.1_Missense_Mutation_p.A2T|MEIS2_ENST00000397620.2_5'Flank|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_5'Flank|MEIS2_ENST00000382766.2_Missense_Mutation_p.A2T|MEIS2_ENST00000340545.5_Intron|MEIS2_ENST00000397624.3_5'Flank|MEIS2_ENST00000338564.5_Missense_Mutation_p.A2T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A2T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A2T|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559085.1_5'Flank			O14770	MEIS2_HUMAN	Meis homeobox 2	2					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ACCCTTTGCGCCATCAGTCTG	0.443																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(4-6)Gcg>Acg		Meis homeobox 2							122.0	130.0	128.0					15																	37391664		2200	4297	6497	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37391664C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.4G>A	15.37:g.37391664C>T	ENSP00000453793:p.Ala2Thr					MEIS2_ENST00000382766.2_Missense_Mutation_p.A2T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A2T|MEIS2_ENST00000340545.5_Intron|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.A2T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A2T|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559561.1_Missense_Mutation_p.A2T	p.A2T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	2	450	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	2					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.4G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147590	0.77888	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.49	4.49	0.54785	.	0.234402	0.42172	D	0.000748	T	0.37461	0.1004	M	0.61703	1.905	0.80722	D	1	B;P;B;P	0.46512	0.097;0.766;0.057;0.879	B;B;B;B	0.43155	0.142;0.41;0.098;0.24	T	0.45071	-0.9286	10	0.72032	D	0.01	.	17.3561	0.87336	0.0:1.0:0.0:0.0	.	2;2;2;2	O14770-4;O14770;O14770-3;O14770-2	.;MEIS2_HUMAN;.;.	T	2	ENSP00000326296:A2T;ENSP00000341400:A2T;ENSP00000372216:A2T;ENSP00000404185:A2T;ENSP00000391887:A2T	ENSP00000326296:A2T	A	-	1	0	MEIS2	35178956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.036000	0.76524	2.310000	0.77875	0.462000	0.41574	GCG		0.443	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		36	56	0	0	0	1	0	36	56				
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53042001C>T	ENST00000309680.3	-	5	1099	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A360S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCCTCTGGGCGATCTCCTCA	0.572																																						ENST00000309680.3																			2	Substitution - Missense(2)	p.A360S(2)	lung(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1078-1080)Gcc>Acc		keratin 2							214.0	189.0	197.0					12																	53042001		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53042001C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1078G>A	12.37:g.53042001C>T	ENSP00000310861:p.Ala360Thr						p.A360T	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	5	1099	-			360			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1078G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963279	0.74016	.	.	ENSG00000172867	ENST00000309680	T	0.79653	-1.29	4.52	4.52	0.55395	Filament (1);	.	.	.	.	D	0.88599	0.6480	M	0.86573	2.825	0.53688	D	0.999978	D	0.56521	0.976	P	0.54431	0.752	D	0.91013	0.4851	9	0.72032	D	0.01	.	17.8008	0.88586	0.0:1.0:0.0:0.0	.	360	P35908	K22E_HUMAN	T	360	ENSP00000310861:A360T	ENSP00000310861:A360T	A	-	1	0	KRT2	51328268	0.974000	0.33945	0.125000	0.21846	0.047000	0.14425	2.439000	0.44846	2.535000	0.85469	0.563000	0.77884	GCC		0.572	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		31	59	0	0	0	1	0	31	59				
CASKIN1	57524	broad.mit.edu	37	16	2228970	2228970	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2228970C>T	ENST00000343516.6	-	19	4224	c.4132G>A	c.(4132-4134)Gcg>Acg	p.A1378T	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1378					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCAGGCACGCGCTTGTCTCC	0.816																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4132-4134)Gcg>Acg		CASK interacting protein 1							4.0	4.0	4.0					16																	2228970		1211	2792	4003	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2228970C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4132G>A	16.37:g.2228970C>T	ENSP00000345436:p.Ala1378Thr						p.A1378T	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			19	4224	-			1378					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.4132G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.506384	0.44558	.	.	ENSG00000167971	ENST00000343516	T	0.68331	-0.32	3.29	3.29	0.37713	.	.	.	.	.	T	0.71904	0.3395	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69957	-0.5004	9	0.32370	T	0.25	-10.9918	13.7234	0.62743	0.0:1.0:0.0:0.0	.	1378	Q8WXD9	CSKI1_HUMAN	T	1378	ENSP00000345436:A1378T	ENSP00000345436:A1378T	A	-	1	0	CASKIN1	2168971	1.000000	0.71417	0.840000	0.33206	0.015000	0.08874	4.080000	0.57620	1.677000	0.50941	0.176000	0.17051	GCG		0.816	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		3	6	0	0	0	1	0	3	6				
GLCCI1	113263	broad.mit.edu	37	7	8125939	8125939	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:8125939C>T	ENST00000223145.5	+	8	1972	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	472						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTTACCTGCTTCTGACCTT	0.498																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1414-1416)gCt>gTt		glucocorticoid induced transcript 1							193.0	212.0	205.0					7																	8125939		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8125939C>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1415C>T	7.37:g.8125939C>T	ENSP00000223145:p.Ala472Val						p.A472V	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1972	+		Ovarian(82;0.0608)	472					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1415C>T	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602505	0.46423	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.14	5.14	0.70334	.	0.336202	0.35151	N	0.003419	T	0.74642	0.3743	L	0.47716	1.5	0.58432	D	0.999991	D	0.76494	0.999	D	0.73708	0.981	T	0.74578	-0.3619	9	0.54805	T	0.06	-28.0958	19.177	0.93605	0.0:1.0:0.0:0.0	.	472	Q86VQ1	GLCI1_HUMAN	V	472	.	ENSP00000223145:A472V	A	+	2	0	GLCCI1	8092464	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	2.610000	0.46325	2.840000	0.97914	0.655000	0.94253	GCT		0.498	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		6	221	0	0	0	1	0	6	221				
STAB1	23166	broad.mit.edu	37	3	52539715	52539715	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52539715C>A	ENST00000321725.6	+	15	1689	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	538	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGACGGACCTGGGCCCTTC	0.632																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1612-1614)cCt>cAt		stabilin 1							72.0	65.0	67.0					3																	52539715		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539715C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1613C>A	3.37:g.52539715C>A	ENSP00000312946:p.Pro538His						p.P538H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	15	1689	+			538			FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1613C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190217	0.78789	.	.	ENSG00000010327	ENST00000321725	D	0.89681	-2.55	5.54	4.67	0.58626	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.80508	2.5	0.45139	D	0.998151	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93121	0.6525	10	0.35671	T	0.21	.	13.8101	0.63256	0.0:0.8465:0.1535:0.0	.	538;538	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	H	538	ENSP00000312946:P538H	ENSP00000312946:P538H	P	+	2	0	STAB1	52514755	0.999000	0.42202	0.966000	0.40874	0.999000	0.98932	6.040000	0.70980	1.345000	0.45676	0.655000	0.94253	CCT		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		10	16	1	0	2.27111e-07	1	2.37911e-07	10	16				
CIRH1A	84916	broad.mit.edu	37	16	69170682	69170682	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69170682C>T	ENST00000314423.7	+	3	420	c.243C>T	c.(241-243)ggC>ggT	p.G81G	CIRH1A_ENST00000352319.4_Silent_p.G81G|CIRH1A_ENST00000563094.1_Silent_p.G81G			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	81					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGCTCAATGGCGAGATTATGG	0.498																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(241-243)ggC>ggT		cirrhosis, autosomal recessive 1A (cirhin)							241.0	239.0	240.0					16																	69170682		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69170682C>T	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.243C>T	16.37:g.69170682C>T						CIRH1A_ENST00000314423.7_Silent_p.G81G|CIRH1A_ENST00000352319.4_Silent_p.G81G	p.G81G			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	3	277	+			81					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.243C>T	CCDS10872.1																																																																																				0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		73	108	0	0	0	1	0	73	108				
TMEM190	147744	broad.mit.edu	37	19	55889218	55889218	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55889218G>A	ENST00000291934.3	+	4	287	c.269G>A	c.(268-270)gGc>gAc	p.G90D	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	90					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACGTGCAGCGGCCTCCTCCTC	0.697																																						ENST00000291934.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(268-270)gGc>gAc		transmembrane protein 190							48.0	50.0	49.0					19																	55889218		2203	4300	6503	SO:0001583	missense	147744					integral to membrane		g.chr19:55889218G>A	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.269G>A	19.37:g.55889218G>A	ENSP00000291934:p.Gly90Asp					CTD-2105E13.15_ENST00000595064.1_RNA	p.G90D	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	287	+	Breast(117;0.191)		90					A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	c.269G>A	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	3.31	0.37934	.	0.164142	0.28718	N	0.014363	T	0.38585	0.1046	N	0.24115	0.695	0.29399	N	0.862044	D	0.57257	0.979	P	0.53518	0.728	T	0.25676	-1.0125	9	0.56958	D	0.05	.	10.2689	0.43470	0.0:0.0:1.0:0.0	.	90	Q8WZ59	TM190_HUMAN	D	90	.	ENSP00000291934:G90D	G	+	2	0	TMEM190	60581030	0.139000	0.22563	0.997000	0.53966	0.087000	0.18053	1.685000	0.37659	1.869000	0.54173	0.313000	0.20887	GGC		0.697	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		9	16	0	0	0	1	0	9	16				
C5orf30	90355	broad.mit.edu	37	5	102611808	102611808	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:102611808G>A	ENST00000319933.2	+	3	496	c.188G>A	c.(187-189)gGc>gAc	p.G63D	C5orf30_ENST00000515669.1_Missense_Mutation_p.G63D|C5orf30_ENST00000510890.1_Missense_Mutation_p.G63D	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	63					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		TATTTGGTTGGCTTCACGACT	0.557																																						ENST00000319933.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(187-189)gGc>gAc		chromosome 5 open reading frame 30							82.0	66.0	71.0					5																	102611808		2203	4300	6503	SO:0001583	missense	90355							g.chr5:102611808G>A		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.188G>A	5.37:g.102611808G>A	ENSP00000326110:p.Gly63Asp					C5orf30_ENST00000515669.1_Missense_Mutation_p.G63D|C5orf30_ENST00000510890.1_Missense_Mutation_p.G63D	p.G63D	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)	3	496	+		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)	63						Missense_Mutation	SNP	ENST00000319933.2	37	c.188G>A	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002425	0.93227	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.057572	0.64402	D	0.000001	T	0.66015	0.2747	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.60345	0.873	T	0.67264	-0.5714	9	0.87932	D	0	-22.3104	20.6208	0.99490	0.0:0.0:1.0:0.0	.	63	Q96GV9	CE030_HUMAN	D	63	.	ENSP00000326110:G63D	G	+	2	0	C5orf30	102639707	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.938000	0.92943	2.882000	0.98803	0.655000	0.94253	GGC		0.557	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		13	24	0	0	0	1	0	13	24				
EN2	2020	broad.mit.edu	37	7	155255122	155255122	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:155255122C>T	ENST00000297375.4	+	2	991	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	248					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGCGGCCGCGCACGGCCTT	0.607																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(742-744)Cgc>Tgc		engrailed homeobox 2							59.0	68.0	65.0					7																	155255122		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255122C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.742C>T	7.37:g.155255122C>T	ENSP00000297375:p.Arg248Cys						p.R248C	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	991	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	248					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.742C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058254	0.76074	.	.	ENSG00000164778	ENST00000297375	D	0.99186	-5.53	5.2	4.3	0.51218	Homeodomain-related (1);Homeobox engrailed (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98164	1.0448	10	0.87932	D	0	-28.6494	13.5321	0.61627	0.2832:0.7168:0.0:0.0	.	248	P19622	HME2_HUMAN	C	248	ENSP00000297375:R248C	ENSP00000297375:R248C	R	+	1	0	EN2	154947883	0.789000	0.28775	0.681000	0.30009	0.980000	0.70556	1.527000	0.35975	1.302000	0.44855	0.655000	0.94253	CGC		0.607	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		8	46	0	0	0	1	0	8	46				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261978	39261978	+	Missense_Mutation	SNP	C	C	T	rs567577389		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39261978C>T	ENST00000391415.1	+	1	395	c.338C>T	c.(337-339)aCc>aTc	p.T113I		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	113	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGAGACGACCTGCTGCCAC	0.657																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(337-339)aCc>aTc		keratin associated protein 4-9																																				SO:0001583	missense	100132386					keratin filament		g.chr17:39261978C>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.338C>T	17.37:g.39261978C>T	ENSP00000375234:p.Thr113Ile						p.T113I	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	395	+			113			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.338C>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	7.481	0.648714	0.14516	.	.	ENSG00000212722	ENST00000377734;ENST00000391415	T	0.35605	1.3	2.94	-3.49	0.04724	.	1.864260	0.03755	U	0.257206	T	0.37433	0.1003	L	0.52823	1.66	0.09310	N	1	B	0.25351	0.124	B	0.28465	0.09	T	0.52358	-0.8586	10	0.52906	T	0.07	.	13.2155	0.59856	0.0:0.783:0.217:0.0	.	113	Q9BYQ8	KRA49_HUMAN	I	101;113	ENSP00000375234:T113I	ENSP00000366963:T101I	T	+	2	0	KRTAP4-9	36515504	0.013000	0.17824	0.496000	0.27539	0.100000	0.18952	0.264000	0.18497	-0.116000	0.11893	0.456000	0.33151	ACC		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	14	0	0	0	1	0	4	14				
BRD1	23774	broad.mit.edu	37	22	50217104	50217104	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50217104G>A	ENST00000216267.8	-	1	1348	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.R288C|BRD1_ENST00000457780.2_Missense_Mutation_p.R288C|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.R288C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	288					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGACCCCAGCGGTCGTCATCT	0.642																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(862-864)Cgc>Tgc		bromodomain containing 1							65.0	60.0	62.0					22																	50217104		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217104G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.862C>T	22.37:g.50217104G>A	ENSP00000216267:p.Arg288Cys					BRD1_ENST00000404034.1_Missense_Mutation_p.R288C|BRD1_ENST00000404760.1_Missense_Mutation_p.R288C|BRD1_ENST00000457780.2_Missense_Mutation_p.R288C	p.R288C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1348	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	288					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.862C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418052	0.62622	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.61874	-0.6973	9	.	.	.	.	13.5333	0.61633	0.0:0.0:0.844:0.156	.	288;288;288	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	C	288	ENSP00000216267:R288C;ENSP00000384076:R288C;ENSP00000385858:R288C;ENSP00000410042:R288C	.	R	-	1	0	BRD1	48603108	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.909000	0.63314	2.388000	0.81334	0.563000	0.77884	CGC		0.642	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		20	32	0	0	0	1	0	20	32				
MDGA2	161357	broad.mit.edu	37	14	47343281	47343281	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:47343281C>T	ENST00000399232.2	-	13	2717	c.2353G>A	c.(2353-2355)Gga>Aga	p.G785R	MDGA2_ENST00000439988.3_Missense_Mutation_p.G854R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.G556R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G556R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	785	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCATTAGGTCCTGTATTAGGA	0.348																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1666-1668)Gga>Aga		MAM domain containing glycosylphosphatidylinositol anchor 2							175.0	168.0	171.0					14																	47343281		1844	4097	5941	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47343281C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2353G>A	14.37:g.47343281C>T	ENSP00000382178:p.Gly785Arg					MDGA2_ENST00000399232.2_Missense_Mutation_p.G854R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G556R|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Missense_Mutation_p.G785R	p.G556R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			13	2412	-			785			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1666G>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861445	0.91433	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02916	4.11;4.11;4.11;4.11	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.47852	U	0.000211	T	0.23846	0.0577	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13202	-1.0518	10	0.87932	D	0	.	17.6763	0.88232	0.0:1.0:0.0:0.0	.	556;785	F6W3S7;Q7Z553	.;MDGA2_HUMAN	R	785;556;854;556	ENSP00000400011:G785R;ENSP00000405456:G556R;ENSP00000382178:G854R;ENSP00000349925:G556R	ENSP00000349925:G556R	G	-	1	0	MDGA2	46413031	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.487000	0.81328	2.501000	0.84356	0.467000	0.42956	GGA		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		42	63	0	0	0	1	0	42	63				
KCNA4	3739	broad.mit.edu	37	11	30032763	30032763	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:30032763C>T	ENST00000328224.6	-	2	2696	c.1463G>A	c.(1462-1464)gGg>gAg	p.G488E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGATGACCCCAATGAAGAG	0.527																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1462-1464)gGg>gAg		potassium voltage-gated channel, shaker-related subfamily, member 4							59.0	62.0	61.0					11																	30032763		2133	4272	6405	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032763C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1463G>A	11.37:g.30032763C>T	ENSP00000328511:p.Gly488Glu						p.G488E	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2696	-			488						Missense_Mutation	SNP	ENST00000328224.6	37	c.1463G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854619	0.71719	.	.	ENSG00000182255	ENST00000328224	D	0.98550	-4.99	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98934	1.0788	10	0.87932	D	0	.	19.563	0.95380	0.0:1.0:0.0:0.0	.	488	P22459	KCNA4_HUMAN	E	488	ENSP00000328511:G488E	ENSP00000328511:G488E	G	-	2	0	KCNA4	29989339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.619000	0.88677	0.650000	0.86243	GGG		0.527	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	21	0	0	0	1	0	11	21				
EPM2AIP1	9852	broad.mit.edu	37	3	37033940	37033940	+	Missense_Mutation	SNP	G	G	A	rs527974047		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37033940G>A	ENST00000322716.5	-	1	855	c.629C>T	c.(628-630)aCc>aTc	p.T210I	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	210					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GTTGATTATGGTCAGAAGATC	0.517																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(628-630)aCc>aTc		EPM2A (laforin) interacting protein 1							80.0	82.0	81.0					3																	37033940		2012	4182	6194	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033940G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.629C>T	3.37:g.37033940G>A	ENSP00000406027:p.Thr210Ile						p.T210I	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	855	-			210					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.629C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843960	0.51164	.	.	ENSG00000178567	ENST00000322716	T	0.14640	2.49	5.36	5.36	0.76844	.	.	.	.	.	T	0.18800	0.0451	N	0.14661	0.345	0.27765	N	0.943684	D	0.76494	0.999	D	0.74023	0.982	T	0.13575	-1.0504	9	0.22706	T	0.39	-9.3517	11.5057	0.50466	0.0:0.0:0.8213:0.1786	.	210	Q7L775	EPMIP_HUMAN	I	210	ENSP00000406027:T210I	ENSP00000406027:T210I	T	-	2	0	EPM2AIP1	37008944	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	2.980000	0.49321	2.788000	0.95919	0.557000	0.71058	ACC		0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		27	33	0	0	0	1	0	27	33				
MFAP1	4236	broad.mit.edu	37	15	44106859	44106859	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44106859G>A	ENST00000267812.3	-	4	689	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	153					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTCGCTGACGCATCATGCCA	0.453																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(457-459)Cgt>Tgt		microfibrillar-associated protein 1							131.0	128.0	129.0					15																	44106859		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44106859G>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.457C>T	15.37:g.44106859G>A	ENSP00000267812:p.Arg153Cys						p.R153C	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	4	689	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	153					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.457C>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942866	0.73672	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.85733	0.1332	9	0.87932	D	0	-11.9495	19.9085	0.97016	0.0:0.0:1.0:0.0	.	153	P55081	MFAP1_HUMAN	C	153	.	ENSP00000267812:R153C	R	-	1	0	MFAP1	41894151	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.473000	0.81007	2.873000	0.98535	0.563000	0.77884	CGT		0.453	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		5	38	0	0	0	1	0	5	38				
IFIT1	3434	broad.mit.edu	37	10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	rs146515241		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91162577C>T	ENST00000371804.3	+	2	712	c.545C>T	c.(544-546)gCg>gTg	p.A182V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.A151V	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gCg>gTg		interferon-induced protein with tetratricopeptide repeats 1		C	VAL/ALA	0,4406		0,0,2203	128.0	130.0	129.0		545	5.2	1.0	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFIT1	NM_001548.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/479	91162577	1,13005	2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162577C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.545C>T	10.37:g.91162577C>T	ENSP00000360869:p.Ala182Val					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	p.A151V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1739	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.452C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	0.0	1.16E-4	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.77229	-1.08;-1.08	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.128318	0.50627	D	0.000102	D	0.89093	0.6617	M	0.89095	3.005	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.1674	0.89733	0.0:1.0:0.0:0.0	.	182;182	Q5T7J1;P09914	.;IFIT1_HUMAN	V	182;151	ENSP00000360869:A182V;ENSP00000441968:A151V	ENSP00000360869:A182V	A	+	2	0	IFIT1	91152557	0.999000	0.42202	0.952000	0.39060	0.013000	0.08279	4.613000	0.61176	2.585000	0.87301	0.557000	0.71058	GCG		0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		71	83	0	0	0	1	0	71	83				
RAB11FIP2	22841	broad.mit.edu	37	10	119800026	119800026	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119800026T>A	ENST00000355624.3	-	2	843	c.404A>T	c.(403-405)gAg>gTg	p.E135V	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E135V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	135					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCTTTATCTCACCCCTGTT	0.333																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(403-405)gAg>gTg		RAB11 family interacting protein 2 (class I)							106.0	83.0	91.0					10																	119800026		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119800026T>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.404A>T	10.37:g.119800026T>A	ENSP00000347839:p.Glu135Val					RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E135V|RP11-354M20.3_ENST00000417968.3_RNA	p.E135V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	843	-		Colorectal(252;0.235)	135					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.404A>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729996	0.48939	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.30714	1.52;1.52	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.221026	0.47093	D	0.000247	T	0.48314	0.1493	M	0.81682	2.555	0.52501	D	0.999956	P;B	0.37612	0.602;0.373	B;P	0.46026	0.421;0.501	T	0.54275	-0.8318	10	0.87932	D	0	-19.9179	15.7009	0.77541	0.0:0.0:0.0:1.0	.	135;135	Q3I768;Q7L804	.;RFIP2_HUMAN	V	135	ENSP00000347839:E135V;ENSP00000358200:E135V	ENSP00000347839:E135V	E	-	2	0	RAB11FIP2	119790016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.918000	0.63376	2.169000	0.68431	0.533000	0.62120	GAG		0.333	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		7	18	0	0	0	1	0	7	18				
ZNFX1	57169	broad.mit.edu	37	20	47865182	47865182	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47865182C>T	ENST00000396105.1	-	14	4625	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1460H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1460							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGCTGACAGCGTTCATGGAA	0.587																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4378-4380)cGc>cAc		zinc finger, NFX1-type containing 1							51.0	49.0	49.0					20																	47865182		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865182C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4379G>A	20.37:g.47865182C>T	ENSP00000379412:p.Arg1460His					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1460H|ZNFX1_ENST00000371754.4_Intron	p.R1460H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4625	-			1460					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4379G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497680	0.26861	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56611	0.45;0.45	6.07	5.03	0.67393	.	0.329179	0.31747	N	0.007137	T	0.37732	0.1014	L	0.28115	0.83	0.28339	N	0.92143	B	0.10296	0.003	B	0.04013	0.001	T	0.28618	-1.0038	10	0.45353	T	0.12	-18.7749	8.7804	0.34787	0.0:0.6818:0.2343:0.0839	.	1460	Q9P2E3	ZNFX1_HUMAN	H	1460	ENSP00000360817:R1460H;ENSP00000379412:R1460H	ENSP00000360817:R1460H	R	-	2	0	ZNFX1	47298589	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.428000	0.21395	1.415000	0.47037	0.655000	0.94253	CGC		0.587	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		8	11	0	0	0	1	0	8	11				
HAVCR1	26762	broad.mit.edu	37	5	156479482	156479482	+	Missense_Mutation	SNP	G	G	A	rs201598799		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156479482G>A	ENST00000339252.3	-	3	1095	c.563C>T	c.(562-564)aCg>aTg	p.T188M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T188M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAACGCTCGTTGTCGTTGA	0.468																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(562-564)aCg>aTg		hepatitis A virus cellular receptor 1							573.0	561.0	565.0					5																	156479482		2122	4228	6350	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479482G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.563C>T	5.37:g.156479482G>A	ENSP00000344844:p.Thr188Met					HAVCR1_ENST00000544197.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T188M|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T188M	p.T188M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1095	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	183			11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.563C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	0.255	-1.003427	0.02128	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.17528	2.27;2.3;2.3;2.27;2.3;2.33	1.28	-2.56	0.06268	.	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16802	0.019;0.002;0.002	B;B;B	0.08055	0.003;0.0;0.0	T	0.21143	-1.0254	9	0.44086	T	0.13	0.3063	8.7347	0.34521	0.3313:0.0:0.6687:0.0	.	188;183;183	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	M	188	ENSP00000428524:T188M;ENSP00000427898:T188M;ENSP00000344844:T188M;ENSP00000403333:T188M;ENSP00000440258:T188M;ENSP00000428422:T188M	ENSP00000344844:T188M	T	-	2	0	HAVCR1	156412060	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	0.366000	0.20365	-2.405000	0.00575	-3.551000	0.00030	ACG		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			7	311	0	0	0	1	0	7	311				
DENND4A	10260	broad.mit.edu	37	15	65957793	65957793	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65957793C>T	ENST00000431932.2	-	29	5325	c.5117G>A	c.(5116-5118)cGc>cAc	p.R1706H	DENND4A_ENST00000443035.3_Missense_Mutation_p.R1749H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1706					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATACAGTGGCGGGGAATCTG	0.303																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(5245-5247)cGc>cAc		DENN/MADD domain containing 4A							101.0	100.0	100.0					15																	65957793		1857	4109	5966	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65957793C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5117G>A	15.37:g.65957793C>T	ENSP00000396830:p.Arg1706His					DENND4A_ENST00000431932.2_Missense_Mutation_p.R1706H	p.R1749H	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			30	5461	-			1706					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.5246G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055084	0.55325	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05447	3.45;3.44	5.57	5.57	0.84162	.	0.192049	0.48767	D	0.000178	T	0.20740	0.0499	L	0.50333	1.59	0.47308	D	0.99938	D;D	0.89917	0.999;1.0	D;D	0.66847	0.91;0.947	T	0.00086	-1.2096	10	0.44086	T	0.13	.	19.5503	0.95314	0.0:1.0:0.0:0.0	.	1749;1706	E7EPL3;Q7Z401	.;MYCPP_HUMAN	H	1749;1706	ENSP00000391167:R1749H;ENSP00000396830:R1706H	ENSP00000396830:R1706H	R	-	2	0	DENND4A	63744847	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.911000	0.48774	2.619000	0.88677	0.561000	0.74099	CGC		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		18	30	0	0	0	1	0	18	30				
CELSR2	1952	broad.mit.edu	37	1	109804178	109804178	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109804178C>T	ENST00000271332.3	+	4	4286	c.4225C>T	c.(4225-4227)Cgt>Tgt	p.R1409C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1409	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACAATGGGCGTTTCAATGA	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4225-4227)Cgt>Tgt		cadherin, EGF LAG seven-pass G-type receptor 2							154.0	148.0	150.0					1																	109804178		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109804178C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4225C>T	1.37:g.109804178C>T	ENSP00000271332:p.Arg1409Cys						p.R1409C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	4	4286	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1409			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4225C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447789	0.84101	.	.	ENSG00000143126	ENST00000271332	T	0.79653	-1.29	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.90027	0.6886	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91477	0.5201	9	0.72032	D	0.01	.	13.4779	0.61318	0.1562:0.8438:0.0:0.0	.	1409	Q9HCU4	CELR2_HUMAN	C	1409	ENSP00000271332:R1409C	ENSP00000271332:R1409C	R	+	1	0	CELSR2	109605701	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.441000	0.66569	2.598000	0.87819	0.462000	0.41574	CGT		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		27	43	0	0	0	1	0	27	43				
STXBP5L	9515	broad.mit.edu	37	3	120871393	120871393	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120871393G>T	ENST00000273666.6	+	8	1010	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	STXBP5L_ENST00000492541.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V247F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	247					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAACTGAGAGTTTATTATGA	0.338																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(739-741)Gtt>Ttt		syntaxin binding protein 5-like							119.0	118.0	119.0					3																	120871393		1849	4096	5945	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120871393G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.739G>T	3.37:g.120871393G>T	ENSP00000273666:p.Val247Phe					STXBP5L_ENST00000471454.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V247F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V247F	p.V247F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	8	1010	+			247					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.739G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667643	0.29604	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.52526	0.66;1.69;0.66;0.66;1.69;1.69	5.38	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179846	0.48286	D	0.000181	T	0.09247	0.0228	N	0.00112	-2.095	0.32588	N	0.527534	B;P	0.45902	0.003;0.868	B;B	0.36885	0.002;0.235	T	0.39840	-0.9594	10	0.02654	T	1	-30.0388	10.0364	0.42131	0.0:0.1503:0.694:0.1558	.	247;247	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	247	ENSP00000273666:V247F;ENSP00000420019:V247F;ENSP00000419627:V247F;ENSP00000420287:V247F;ENSP00000420666:V247F;ENSP00000420167:V247F	ENSP00000273666:V247F	V	+	1	0	STXBP5L	122354083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.414000	0.44627	1.219000	0.43474	0.655000	0.94253	GTT		0.338	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			10	22	1	0	3.07112e-06	1	3.18879e-06	10	22				
ATP13A4	84239	broad.mit.edu	37	3	193209164	193209164	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:193209164G>A	ENST00000342695.4	-	6	879	c.557C>T	c.(556-558)aCt>aTt	p.T186I	ATP13A4_ENST00000392443.3_Missense_Mutation_p.T186I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.T186I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	186						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AACATCGATAGTATTAGGCCC	0.363																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(556-558)aCt>aTt		ATPase type 13A4							112.0	111.0	111.0					3																	193209164		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193209164G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.557C>T	3.37:g.193209164G>A	ENSP00000339182:p.Thr186Ile					ATP13A4_ENST00000392443.3_Missense_Mutation_p.T186I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.T186I	p.T186I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	6	879	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		186					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.557C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049794	0.19827	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.78595	-1.19;-1.19;-1.19	5.81	4.94	0.65067	ATPase, P-type cation-transporter, N-terminal (2);	0.193218	0.36740	N	0.002426	T	0.60444	0.2269	N	0.12422	0.21	0.28528	N	0.912742	B;B	0.18863	0.011;0.031	B;B	0.24269	0.021;0.052	T	0.54268	-0.8319	10	0.35671	T	0.21	-29.1971	9.3451	0.38104	0.0758:0.1463:0.7778:0.0	.	186;186	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	I	186	ENSP00000376238:T186I;ENSP00000339182:T186I;ENSP00000295548:T186I	ENSP00000295548:T186I	T	-	2	0	ATP13A4	194691858	0.875000	0.30112	0.990000	0.47175	0.805000	0.45488	3.011000	0.49567	1.468000	0.48064	-0.226000	0.12346	ACT		0.363	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		30	36	0	0	0	1	0	30	36				
CYP4F11	57834	broad.mit.edu	37	19	16024574	16024574	+	Missense_Mutation	SNP	G	G	A	rs148679944		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16024574G>A	ENST00000402119.4	-	12	1969	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R515W|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R190W	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCTCCACCCGCAGCCAAAGT	0.607																																						ENST00000402119.3																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1543-1545)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	53.0	55.0		1543,1543	-1.3	1.0	19	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	515/525,515/525	16024574	1,13005	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024574G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1543C>T	19.37:g.16024574G>A	ENSP00000384588:p.Arg515Trp					CYP4F11_ENST00000248041.7_Missense_Mutation_p.R515W|CYP4F11_ENST00000326742.7_3'UTR	p.R515W	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN			12	1969	-			515						Missense_Mutation	SNP	ENST00000402119.4	37	c.1543C>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	6.172	0.400001	0.11696	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041	T;T	0.80653	-1.4;-1.4	2.74	-1.29	0.09288	.	0.293900	0.27554	U	0.018856	T	0.73938	0.3651	M	0.78049	2.395	0.29376	N	0.863682	B	0.23128	0.08	B	0.24269	0.052	T	0.66131	-0.6000	10	0.59425	D	0.04	.	3.3171	0.07036	0.1416:0.0:0.4111:0.4473	.	515	Q9HBI6	CP4FB_HUMAN	W	515	ENSP00000384588:R515W;ENSP00000248041:R515W	ENSP00000248041:R515W	R	-	1	2	CYP4F11	15885574	0.997000	0.39634	0.998000	0.56505	0.022000	0.10575	1.559000	0.36320	0.050000	0.15949	-1.721000	0.00707	CGG		0.607	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		3	10	0	0	0	1	0	3	10				
GLI3	2737	broad.mit.edu	37	7	42005853	42005853	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:42005853G>A	ENST00000395925.3	-	15	2902	c.2818C>T	c.(2818-2820)Ccg>Tcg	p.P940S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	940					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P940T(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCGGCGGCGGCCCTCCTGTG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - Missense(1)	p.P940T(1)	lung(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2818-2820)Ccg>Tcg		GLI family zinc finger 3							11.0	16.0	14.0					7																	42005853		2124	4187	6311	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005853G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2818C>T	7.37:g.42005853G>A	ENSP00000379258:p.Pro940Ser					GLI3_ENST00000479210.1_5'UTR	p.P940S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	2902	-			940					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2818C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123098	0.77436	.	.	ENSG00000106571	ENST00000395925	D	0.95238	-3.65	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.98050	1.0387	10	0.72032	D	0.01	.	17.9834	0.89148	0.0:0.0:1.0:0.0	.	940	P10071	GLI3_HUMAN	S	940	ENSP00000379258:P940S	ENSP00000379258:P940S	P	-	1	0	GLI3	41972378	1.000000	0.71417	0.062000	0.19696	0.746000	0.42486	7.669000	0.83911	2.214000	0.71695	0.462000	0.41574	CCG		0.716	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	25	0	0	0	1	0	10	25				
ZNF124	7678	broad.mit.edu	37	1	247320395	247320395	+	Missense_Mutation	SNP	G	G	A	rs375447431		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247320395G>A	ENST00000543802.2	-	4	618	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.R115C|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CATTCATAGCGTTTTTCTCCA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21098	0.0		0.0	False		,,,				2504	0.0					ENST00000340684.6																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(343-345)Cgc>Tgc		zinc finger protein 124		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	66.0	68.0		343	-0.2	0.2	1		68	0,8600		0,0,4300	no	missense	ZNF124	NM_003431.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	115/290	247320395	1,13005	2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247320395G>A	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.529C>T	1.37:g.247320395G>A	ENSP00000440365:p.Arg177Cys					ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.R177C|ZNF124_ENST00000472531.1_Intron	p.R115C	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	481	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		177					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	G	13.32	2.200933	0.38905	2.27E-4	0.0	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802;ENST00000540601	T	0.18960	2.18	0.864	-0.149	0.13420	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14485	0.0350	L	0.42581	1.335	0.30924	N	0.727645	B;B	0.27625	0.006;0.183	B;B	0.04013	0.001;0.001	T	0.14531	-1.0469	9	0.87932	D	0	.	5.0145	0.14330	0.2461:0.0:0.7539:0.0	.	177;115	Q15973;Q15973-4	ZN124_HUMAN;.	C	138;115;121;121	ENSP00000340749:R115C	ENSP00000340749:R115C	R	-	1	0	ZNF124	245387018	0.039000	0.19947	0.189000	0.23252	0.512000	0.34134	1.566000	0.36396	-0.070000	0.12908	0.467000	0.42956	CGC		0.418	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		13	36	0	0	0	1	0	13	36				
PCDHGA6	56109	broad.mit.edu	37	5	140755558	140755558	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140755558C>T	ENST00000517434.1	+	1	1908	c.1908C>T	c.(1906-1908)gaC>gaT	p.D636D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACGCGCTCAAGC	0.701																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1906-1908)gaC>gaT									40.0	50.0	47.0					5																	140755558		2202	4296	6498	SO:0001819	synonymous_variant	0							g.chr5:140755558C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1908C>T	5.37:g.140755558C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.D636D	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1908	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1908C>T	CCDS54926.1																																																																																				0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		30	26	0	0	0	1	0	30	26				
GEMIN4	50628	broad.mit.edu	37	17	651194	651194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:651194G>A	ENST00000319004.5	-	2	207	c.89C>T	c.(88-90)gCa>gTa	p.A30V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A19V|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A30V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	30					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTCTGCCAGTGCCTTAGGGTG	0.532																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(55-57)gCa>gTa		gem (nuclear organelle) associated protein 4							30.0	32.0	31.0					17																	651194		1989	4172	6161	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:651194G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.89C>T	17.37:g.651194G>A	ENSP00000321706:p.Ala30Val					GEMIN4_ENST00000319004.5_Missense_Mutation_p.A30V|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A30V	p.A19V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1397	-		Myeloproliferative disorder(207;0.204)	30					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.56C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581522	0.28180	.	.	ENSG00000179409	ENST00000319004;ENST00000437269	T;T	0.23950	1.88;1.88	5.66	2.64	0.31445	.	0.403237	0.28268	N	0.015979	T	0.34890	0.0913	L	0.60455	1.87	0.09310	N	1	B;D	0.56287	0.001;0.975	B;P	0.53861	0.002;0.736	T	0.10965	-1.0607	10	0.46703	T	0.11	-0.1124	9.7696	0.40580	0.2241:0.0:0.7759:0.0	.	30;30	E7EN12;P57678	.;GEMI4_HUMAN	V	30	ENSP00000321706:A30V;ENSP00000392460:A30V	ENSP00000321706:A30V	A	-	2	0	GEMIN4	597944	0.026000	0.19158	0.277000	0.24703	0.006000	0.05464	1.738000	0.38207	0.356000	0.24157	-0.136000	0.14681	GCA		0.532	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	13	0	0	0	1	0	6	13				
ATG2A	23130	broad.mit.edu	37	11	64678411	64678411	+	Silent	SNP	G	G	A	rs144361706	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678411G>A	ENST00000377264.3	-	11	1594	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	ATG2A_ENST00000421419.2_Silent_p.A494A	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	494					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)				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						ACAGCTGCACGGCTGTGCCCG	0.662																																						ENST00000421419.2																			0				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						c.(1480-1482)gcC>gcT		autophagy related 2A							22.0	26.0	25.0					11																	64678411		2200	4296	6496	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64678411G>A		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.1482C>T	11.37:g.64678411G>A						ATG2A_ENST00000377264.3_Silent_p.A494A	p.A494A			Q2TAZ0	ATG2A_HUMAN			11	1596	-			494					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1482C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338513	0.24253	.	.	ENSG00000110046	ENST00000418259	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56238	-0.8012	4	.	.	.	.	8.6449	0.34000	0.5941:0.1947:0.2112:0.0	.	.	.	.	C	296	.	.	R	-	1	0	ATG2A	64434987	0.000000	0.05858	0.116000	0.21606	0.381000	0.30169	-5.425000	0.00123	-2.035000	0.00923	-0.355000	0.07637	CGT		0.662	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		9	7	0	0	0	1	0	9	7				
POGZ	23126	broad.mit.edu	37	1	151396580	151396580	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151396580G>A	ENST00000271715.2	-	9	1682	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Silent_p.N394N|POGZ_ENST00000392723.1_Silent_p.N403N|POGZ_ENST00000368863.2_Silent_p.N361N|POGZ_ENST00000409503.1_Silent_p.N447N|POGZ_ENST00000361398.3_Silent_p.N403N|POGZ_ENST00000491586.1_Silent_p.N403N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	456					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCGCCCACGTTCTCATTTG	0.507																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1366-1368)aaC>aaT		pogo transposable element with ZNF domain							203.0	189.0	194.0					1																	151396580		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396580G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1368C>T	1.37:g.151396580G>A						POGZ_ENST00000368863.2_Silent_p.N361N|POGZ_ENST00000361398.3_Silent_p.N403N|POGZ_ENST00000392723.1_Silent_p.N403N|POGZ_ENST00000409503.1_Silent_p.N447N|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Silent_p.N403N|POGZ_ENST00000531094.1_Silent_p.N394N	p.N456N	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1682	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		456					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.1368C>T	CCDS997.1																																																																																				0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		5	77	0	0	0	1	0	5	77				
TEX11	56159	broad.mit.edu	37	X	69749738	69749738	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:69749738C>T	ENST00000395889.2	-	30	2832	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	TEX11_ENST00000374333.2_Missense_Mutation_p.A878T|TEX11_ENST00000374320.2_Missense_Mutation_p.A568T|TEX11_ENST00000344304.3_Missense_Mutation_p.A893T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	893					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAACGCAAGGCCAGGCCACAC	0.498																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2677-2679)Gcc>Acc		testis expressed 11							124.0	89.0	100.0					X																	69749738		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69749738C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2677G>A	X.37:g.69749738C>T	ENSP00000379226:p.Ala893Thr					TEX11_ENST00000374320.2_Missense_Mutation_p.A568T|TEX11_ENST00000374333.2_Missense_Mutation_p.A878T|TEX11_ENST00000344304.3_Missense_Mutation_p.A893T	p.A893T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			30	2832	-	Renal(35;0.156)		893					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2677G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049466	0.19827	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.59083	0.93;0.94;0.29;0.94	4.33	1.44	0.22558	.	0.289314	0.27631	N	0.018507	T	0.40297	0.1111	L	0.39147	1.195	0.09310	N	1	B;B	0.31459	0.324;0.218	B;B	0.31686	0.134;0.063	T	0.17501	-1.0367	9	.	.	.	-0.0432	3.7666	0.08624	0.1658:0.5785:0.1582:0.0975	.	878;893	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	878;893;568;893	ENSP00000363453:A878T;ENSP00000379226:A893T;ENSP00000363440:A568T;ENSP00000340995:A893T	.	A	-	1	0	TEX11	69666463	0.929000	0.31497	0.000000	0.03702	0.210000	0.24377	2.175000	0.42491	-0.019000	0.14055	0.500000	0.49745	GCC		0.498	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			26	6	0	0	0	1	0	26	6				
IGSF10	285313	broad.mit.edu	37	3	151166251	151166251	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:151166251G>A	ENST00000282466.3	-	4	1517	c.1518C>T	c.(1516-1518)caC>caT	p.H506H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	506	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAATCCACGTGTGGGGTGG	0.483																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1516-1518)caC>caT		immunoglobulin superfamily, member 10							182.0	180.0	181.0					3																	151166251		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166251G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1518C>T	3.37:g.151166251G>A							p.H506H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1517	-			506			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.1518C>T	CCDS3160.1																																																																																				0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		5	153	0	0	0	1	0	5	153				
VARS2	57176	broad.mit.edu	37	6	30882962	30882962	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30882962G>A	ENST00000321897.5	+	2	863	c.231G>A	c.(229-231)agG>agA	p.R77R	VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_Silent_p.R107R|VARS2_ENST00000416670.2_Silent_p.R77R			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	77					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGCCTGGAGGCCTAAGGAGT	0.468																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(229-231)agG>agA		valyl-tRNA synthetase 2, mitochondrial							92.0	97.0	95.0					6																	30882962		2203	4300	6503	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30882962G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.231G>A	6.37:g.30882962G>A						VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_Silent_p.R107R|VARS2_ENST00000416670.2_Silent_p.R77R	p.R77R			Q5ST30	SYVM_HUMAN			2	863	+			77					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.231G>A	CCDS34387.1																																																																																				0.468	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		34	52	0	0	0	1	0	34	52				
TYW1	55253	broad.mit.edu	37	7	66482879	66482879	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:66482879G>A	ENST00000359626.5	+	6	774	c.610G>A	c.(610-612)Gcg>Acg	p.A204T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	204	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GATGCTTGGCGCGCATCGTGT	0.507																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(610-612)Gcg>Acg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							85.0	77.0	80.0					7																	66482879		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66482879G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.610G>A	7.37:g.66482879G>A	ENSP00000352645:p.Ala204Thr						p.A204T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			6	774	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	204			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.610G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720533	0.68959	.	.	ENSG00000198874	ENST00000359626	T	0.68331	-0.32	4.03	4.03	0.46877	Flavodoxin/nitric oxide synthase (2);	0.067624	0.56097	U	0.000021	D	0.84293	0.5440	H	0.97415	4	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	D	0.89976	0.4097	10	0.72032	D	0.01	.	14.0157	0.64523	0.0:0.0:1.0:0.0	.	204	Q9NV66	TYW1_HUMAN	T	204	ENSP00000352645:A204T	ENSP00000352645:A204T	A	+	1	0	TYW1	66120314	1.000000	0.71417	0.052000	0.19188	0.119000	0.20118	8.803000	0.91915	2.254000	0.74563	0.313000	0.20887	GCG		0.507	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		27	33	0	0	0	1	0	27	33				
RYK	6259	broad.mit.edu	37	3	133878153	133878153	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133878153T>C	ENST00000427044.2	-	15	1683	c.1073A>G	c.(1072-1074)gAc>gGc	p.D358G	RYK_ENST00000296084.4_Missense_Mutation_p.D548G			P34925	RYK_HUMAN	receptor-like tyrosine kinase	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CTCGAAGGGGTCAATGTCCAC	0.498																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(1072-1074)gAc>gGc		receptor-like tyrosine kinase							71.0	70.0	70.0					3																	133878153		1997	4146	6143	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133878153T>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1073A>G	3.37:g.133878153T>C	ENSP00000399527:p.Asp358Gly					RYK_ENST00000296084.4_Missense_Mutation_p.D548G	p.D358G			P34925	RYK_HUMAN			15	1683	-			544			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1073A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	30|30	5.055097|5.055097	0.93793|0.93793	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;D|.	0.89552|.	0.74;-2.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70544|0.70544	0.3236|0.3236	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.81914|.	0.995;0.991|.	T|T	0.68949|0.68949	-0.5274|-0.5274	10|5	0.62326|.	D|.	0.03|.	-7.5652|-7.5652	15.8788|15.8788	0.79185|0.79185	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	544;547|.	P34925;P34925-2|.	RYK_HUMAN;.|.	G|A	548;358|527	ENSP00000296084:D548G;ENSP00000399527:D358G|.	ENSP00000296084:D548G|.	D|T	-|-	2|1	0|0	RYK|RYK	135360843|135360843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.698000|7.698000	0.84413|0.84413	2.155000|2.155000	0.67459|0.67459	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.498	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		7	12	0	0	0	1	0	7	12				
SNHG14	104472715	broad.mit.edu	37	15	25415789	25415789	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25415789C>T	ENST00000441592.2	+	0	0				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATTCCTGATGCCCTGGCCTCC	0.637																																						ENST00000549301.1																			0																																																			0							g.chr15:25415789C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415789C>T						SNHG14_ENST00000553149.1_RNA								0	303	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.637	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			17	31	0	0	0	1	0	17	31				
GAD2	2572	broad.mit.edu	37	10	26589804	26589804	+	Missense_Mutation	SNP	C	C	T	rs200401161		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26589804C>T	ENST00000376261.3	+	16	2175	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	GAD2_ENST00000259271.3_Missense_Mutation_p.R558C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	558					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAATTTCTTCCGCATGGTCAT	0.468																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1672-1674)Cgc>Tgc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						201.0	179.0	187.0					10																	26589804		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589804C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1672C>T	10.37:g.26589804C>T	ENSP00000365437:p.Arg558Cys					GAD2_ENST00000259271.3_Missense_Mutation_p.R558C	p.R558C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			16	2175	+			558					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1672C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378046	0.82682	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.69926	-0.44;-0.44	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049815	0.85682	D	0.000000	D	0.87748	0.6255	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90484	0.4462	10	0.87932	D	0	-16.611	19.8579	0.96771	0.0:1.0:0.0:0.0	.	558	Q05329	DCE2_HUMAN	C	558	ENSP00000365437:R558C;ENSP00000259271:R558C	ENSP00000259271:R558C	R	+	1	0	GAD2	26629810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.444000	0.60001	2.687000	0.91594	0.655000	0.94253	CGC		0.468	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		24	88	0	0	0	1	0	24	88				
RANBP2	5903	broad.mit.edu	37	2	109357021	109357021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109357021G>A	ENST00000283195.6	+	7	985	c.859G>A	c.(859-861)Gga>Aga	p.G287R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	287					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAAATGAAAGGACATTTCTA	0.393																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(859-861)Gga>Aga		RAN binding protein 2							234.0	250.0	244.0					2																	109357021		2051	3887	5938	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357021G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.859G>A	2.37:g.109357021G>A	ENSP00000283195:p.Gly287Arg						p.G287R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	985	+			287					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.859G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834189	0.91036	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	4.79	4.79	0.61399	.	.	.	.	.	T	0.55513	0.1925	M	0.66939	2.045	0.46586	D	0.999115	D	0.89917	1.0	D	0.76575	0.988	T	0.60296	-0.7291	9	0.87932	D	0	-21.0005	18.2105	0.89868	0.0:0.0:1.0:0.0	.	287	P49792	RBP2_HUMAN	R	287	ENSP00000283195:G287R	ENSP00000283195:G287R	G	+	1	0	RANBP2	108723453	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.226000	0.95229	2.395000	0.81488	0.555000	0.69702	GGA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		90	131	0	0	0	1	0	90	131				
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102.0	109.0	107.0					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp					RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		57	76	0	0	0	1	0	57	76				
KIF3B	9371	broad.mit.edu	37	20	30915393	30915393	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30915393G>A	ENST00000375712.3	+	7	2064	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	KIF3B_ENST00000418717.2_Missense_Mutation_p.V259M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	633	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTCTCAGCCGTGGGATATAA	0.517																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1897-1899)Gtg>Atg		kinesin family member 3B							117.0	105.0	109.0					20																	30915393		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30915393G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1897G>A	20.37:g.30915393G>A	ENSP00000364864:p.Val633Met					KIF3B_ENST00000418717.2_Missense_Mutation_p.V259M	p.V633M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	2064	+			633			Globular.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1897G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139901	0.56936	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75050	-0.9;0.39	5.32	5.32	0.75619	.	0.274240	0.34314	N	0.004068	T	0.64994	0.2649	L	0.31578	0.945	0.49798	D	0.999829	D;B	0.53885	0.963;0.2	B;B	0.44315	0.446;0.046	T	0.63804	-0.6554	10	0.34782	T	0.22	.	12.8454	0.57827	0.0741:0.0:0.9259:0.0	.	259;633	B4DSR5;O15066	.;KIF3B_HUMAN	M	633;259	ENSP00000364864:V633M;ENSP00000406287:V259M	ENSP00000364864:V633M	V	+	1	0	KIF3B	30379054	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.347000	0.79356	2.941000	0.99782	0.655000	0.94253	GTG		0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		9	49	0	0	0	1	0	9	49				
MYH15	22989	broad.mit.edu	37	3	108117552	108117552	+	Missense_Mutation	SNP	G	G	A	rs377115294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108117552G>A	ENST00000273353.3	-	36	5181	c.5125C>T	c.(5125-5127)Cgt>Tgt	p.R1709C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1709						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGCGGCCACGCTCTGTCTGC	0.527																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5125-5127)Cgt>Tgt		myosin, heavy chain 15		G	CYS/ARG	0,3952		0,0,1976	186.0	188.0	187.0		5125	-6.9	0.0	3		187	1,8327		0,1,4163	no	missense	MYH15	NM_014981.1	180	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	benign	1709/1947	108117552	1,12279	1976	4164	6140	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117552G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5125C>T	3.37:g.108117552G>A	ENSP00000273353:p.Arg1709Cys						p.R1709C	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			36	5181	-			1709						Missense_Mutation	SNP	ENST00000273353.3	37	c.5125C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323811	0.41096	0.0	1.2E-4	ENSG00000144821	ENST00000273353	D	0.85013	-1.93	5.15	-6.91	0.01649	Myosin tail (1);	.	.	.	.	D	0.85771	0.5774	M	0.92784	3.345	0.20403	N	0.999908	B	0.33103	0.397	B	0.37989	0.262	T	0.78797	-0.2063	9	0.62326	D	0.03	.	5.6195	0.17450	0.4161:0.0:0.3622:0.2218	.	1709	Q9Y2K3	MYH15_HUMAN	C	1709	ENSP00000273353:R1709C	ENSP00000273353:R1709C	R	-	1	0	MYH15	109600242	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.267000	0.08619	-0.945000	0.03681	-0.140000	0.14226	CGT		0.527	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		74	113	0	0	0	1	0	74	113				
FAT2	2196	broad.mit.edu	37	5	150947924	150947924	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150947924C>A	ENST00000261800.5	-	1	581	c.569G>T	c.(568-570)aGg>aTg	p.R190M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCTCTGACCTTGTGTTAAA	0.532																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(568-570)aGg>aTg		FAT atypical cadherin 2							120.0	108.0	112.0					5																	150947924		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947924C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.569G>T	5.37:g.150947924C>A	ENSP00000261800:p.Arg190Met						p.R190M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	581	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	190			Cadherin 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.569G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682119	0.68042	.	.	ENSG00000086570	ENST00000261800	T	0.61274	0.12	5.61	4.74	0.60224	Cadherin (4);Cadherin-like (1);	0.084146	0.47093	D	0.000256	T	0.68220	0.2977	L	0.55103	1.725	0.43444	D	0.995625	D	0.69078	0.997	D	0.66847	0.947	T	0.68307	-0.5443	10	0.46703	T	0.11	.	11.5253	0.50576	0.0:0.8439:0.0:0.1561	.	190	Q9NYQ8	FAT2_HUMAN	M	190	ENSP00000261800:R190M	ENSP00000261800:R190M	R	-	2	0	FAT2	150928117	1.000000	0.71417	0.778000	0.31720	0.992000	0.81027	3.341000	0.52151	1.371000	0.46172	0.555000	0.69702	AGG		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		22	37	1	0	6.33239e-15	1	6.92311e-15	22	37				
SCEL	8796	broad.mit.edu	37	13	78216886	78216886	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:78216886A>G	ENST00000349847.3	+	32	2077	c.1993A>G	c.(1993-1995)Agt>Ggt	p.S665G	SCEL_ENST00000377246.3_Missense_Mutation_p.S645G|SCEL_ENST00000535157.1_Missense_Mutation_p.S623G	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	665	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGCGGGTGATAGTATTTGGAT	0.308																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(1867-1869)Agt>Ggt		sciellin							117.0	116.0	117.0					13																	78216886		2202	4299	6501	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78216886A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1993A>G	13.37:g.78216886A>G	ENSP00000302579:p.Ser665Gly					SCEL_ENST00000349847.3_Missense_Mutation_p.S665G|SCEL_ENST00000377246.3_Missense_Mutation_p.S645G	p.S623G	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	30	2037	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	665			LIM zinc-binding.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1867A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448687	0.84101	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.81579	-1.51;-1.51;-1.51	5.81	5.81	0.92471	Zinc finger, LIM-type (3);	0.000000	0.64402	D	0.000002	D	0.86948	0.6056	L	0.51422	1.61	0.49213	D	0.999766	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.995;0.997	D	0.87731	0.2579	10	0.62326	D	0.03	-24.1519	15.1388	0.72595	1.0:0.0:0.0:0.0	.	623;645;665	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	G	623;645;665	ENSP00000437895:S623G;ENSP00000366454:S645G;ENSP00000302579:S665G	ENSP00000302579:S665G	S	+	1	0	SCEL	77114887	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.086000	0.76885	2.210000	0.71456	0.533000	0.62120	AGT		0.308	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		22	13	0	0	0	1	0	22	13				
CARS2	79587	broad.mit.edu	37	13	111357885	111357885	+	Silent	SNP	C	C	T	rs553318183		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111357885C>T	ENST00000257347.4	-	2	321	c.258G>A	c.(256-258)gcG>gcA	p.A86A	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	86					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGCCAAGGTGCGCATGATCAT	0.368																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(256-258)gcG>gcA		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						90.0	83.0	85.0					13																	111357885		2203	4300	6503	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111357885C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.258G>A	13.37:g.111357885C>T						CARS2_ENST00000535398.1_Intron	p.A86A	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		2	321	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		86					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.258G>A	CCDS9514.1																																																																																				0.368	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		18	35	0	0	0	1	0	18	35				
PCDHAC2	56134	broad.mit.edu	37	5	140347577	140347577	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140347577C>A	ENST00000289269.5	+	1	1758	c.1226C>A	c.(1225-1227)cCt>cAt	p.P409H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACACTGCCTTTCCGACTG	0.567																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1225-1227)cCt>cAt									91.0	86.0	87.0					5																	140347577		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347577C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1226C>A	5.37:g.140347577C>A	ENSP00000289269:p.Pro409His					PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.P409H	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1758	+			409			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1226C>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415370	0.25552	.	.	ENSG00000243232	ENST00000289269	T	0.50813	0.73	5.82	4.95	0.65309	Cadherin (4);Cadherin-like (1);	0.000000	0.41712	D	0.000831	T	0.69278	0.3093	M	0.79475	2.455	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74253	-0.3725	10	0.87932	D	0	.	14.6389	0.68708	0.0:0.9303:0.0:0.0697	.	409;409	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	409	ENSP00000289269:P409H	ENSP00000289269:P409H	P	+	2	0	PCDHAC2	140327761	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	3.715000	0.54897	1.465000	0.48006	0.655000	0.94253	CCT		0.567	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		20	43	1	0	5.35267e-07	1	5.59292e-07	20	43				
POTEE	445582	broad.mit.edu	37	2	131976050	131976050	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131976050C>T	ENST00000356920.5	+	1	169	c.75C>T	c.(73-75)ggC>ggT	p.G25G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.G25G|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	25					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCAAGATGGGCAAGTGGTGCT	0.552																																						ENST00000356920.5																			0											c.(73-75)ggC>ggT		POTE ankyrin domain family, member E							83.0	102.0	96.0					2																	131976050		2193	4298	6491	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976050C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.75C>T	2.37:g.131976050C>T						PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.G25G	p.G25G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	169	+			25					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.75C>T	CCDS46414.1																																																																																				0.552	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		54	81	0	0	0	1	0	54	81				
PCDHA13	56136	broad.mit.edu	37	5	140263536	140263536	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140263536C>T	ENST00000289272.2	+	1	1683	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.N561N|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	561	Cadherin 5. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCTCCGGCGC	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1681-1683)aaC>aaT									58.0	65.0	63.0					5																	140263536		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140263536C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1683C>T	5.37:g.140263536C>T						PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.N561N|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.N561N	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1683	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1683C>T	CCDS4240.1																																																																																				0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		35	63	0	0	0	1	0	35	63				
ANKRD27	84079	broad.mit.edu	37	19	33089255	33089255	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33089255C>A	ENST00000306065.4	-	29	3107	c.2949G>T	c.(2947-2949)caG>caT	p.Q983H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	983					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCAGGTTATTCTGTCTCAGTG	0.517																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2947-2949)caG>caT		ankyrin repeat domain 27 (VPS9 domain)							133.0	120.0	125.0					19																	33089255		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33089255C>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2949G>T	19.37:g.33089255C>A	ENSP00000304292:p.Gln983His						p.Q983H	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			29	3107	-	Esophageal squamous(110;0.137)		983					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2949G>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883172	0.17467	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	4.54	-0.0764	0.13723	.	0.426666	0.17403	N	0.175473	T	0.43055	0.1230	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.34782	T	0.22	-2.3492	4.9055	0.13797	0.0:0.4715:0.3391:0.1894	.	983	Q96NW4	ANR27_HUMAN	H	983	ENSP00000304292:Q983H	ENSP00000304292:Q983H	Q	-	3	2	ANKRD27	37781095	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.002000	0.12924	0.102000	0.17638	-0.136000	0.14681	CAG		0.517	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		45	84	1	0	8.04919e-23	1	8.95685e-23	45	84				
PLPPR2	64748	broad.mit.edu	37	19	11472018	11472018	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11472018C>T	ENST00000251473.5	+	6	893	c.517C>T	c.(517-519)Cca>Tca	p.P173S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P148S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GGGCTGCCTGCCACCTTCTCC	0.706																																						ENST00000251473.5																			0											c.(517-519)Cca>Tca									56.0	46.0	49.0					19																	11472018		2203	4299	6502	SO:0001583	missense	0							g.chr19:11472018C>T																												ENST00000251473.5:c.517C>T	19.37:g.11472018C>T	ENSP00000251473:p.Pro173Ser					DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P148S	p.P173S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	893	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.517C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	6.059	0.379225	0.11466	.	.	ENSG00000105520	ENST00000251473	T	0.74737	-0.87	5.18	5.18	0.71444	.	0.000000	0.52532	D	0.000068	T	0.47021	0.1423	N	0.02865	-0.47	0.39882	D	0.973656	B;B	0.16802	0.019;0.005	B;B	0.24541	0.054;0.017	T	0.49808	-0.8900	10	0.06365	T	0.9	-24.6217	11.0621	0.47953	0.0:0.9129:0.0:0.0871	.	148;173	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	173	ENSP00000251473:P173S	ENSP00000251473:P173S	P	+	1	0	AC024575.1	11333018	0.994000	0.37717	0.357000	0.25798	0.130000	0.20726	4.159000	0.58157	2.422000	0.82143	0.450000	0.29827	CCA		0.706	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			10	29	0	0	0	1	0	10	29				
AURKC	6795	broad.mit.edu	37	19	57746642	57746642	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57746642C>T	ENST00000302804.7	+	7	973	c.787C>T	c.(787-789)Cct>Tct	p.P263S	AURKC_ENST00000598785.1_Missense_Mutation_p.P229S|AURKC_ENST00000415300.2_Missense_Mutation_p.P244S|AURKC_ENST00000448930.1_Missense_Mutation_p.P229S|AURKC_ENST00000599062.1_Missense_Mutation_p.P260S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTATCAATGCCTCTGGGGGC	0.527																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(787-789)Cct>Tct		aurora kinase C							72.0	76.0	74.0					19																	57746642		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746642C>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.787C>T	19.37:g.57746642C>T	ENSP00000302898:p.Pro263Ser					AURKC_ENST00000599062.1_Missense_Mutation_p.P260S|AURKC_ENST00000415300.2_Missense_Mutation_p.P244S|AURKC_ENST00000448930.1_Missense_Mutation_p.P229S|AURKC_ENST00000598785.1_Missense_Mutation_p.P229S	p.P263S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	7	973	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	263			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.787C>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364778	0.01235	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.05996	3.36;3.36;3.36	3.88	0.573	0.17363	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.225743	0.47093	N	0.000244	T	0.01976	0.0062	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.10450	0.005;0.004;0.003	T	0.47661	-0.9100	10	0.02654	T	1	-8.747	6.3539	0.21390	0.0:0.5799:0.0:0.4201	.	260;263;244	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	S	244;229;263	ENSP00000407162:P244S;ENSP00000406798:P229S;ENSP00000302898:P263S	ENSP00000302898:P263S	P	+	1	0	AURKC	62438454	0.006000	0.16342	0.003000	0.11579	0.102000	0.19082	0.301000	0.19174	0.230000	0.21059	0.655000	0.94253	CCT		0.527	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		5	20	0	0	0	1	0	5	20				
ZZEF1	23140	broad.mit.edu	37	17	4020446	4020446	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4020446A>T	ENST00000381638.2	-	3	638	c.514T>A	c.(514-516)Ttt>Att	p.F172I	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	172							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACTCTGAAAATATGTCTGTG	0.502																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(514-516)Ttt>Att		zinc finger, ZZ-type with EF-hand domain 1							95.0	90.0	92.0					17																	4020446		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020446A>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.514T>A	17.37:g.4020446A>T	ENSP00000371051:p.Phe172Ile					ZZEF1_ENST00000574474.1_5'UTR	p.F172I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			3	638	-			172					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.514T>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912287	0.92178	.	.	ENSG00000074755	ENST00000381638	T	0.34275	1.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59004	0.2162	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.61652	-0.7019	10	0.87932	D	0	-15.0738	16.2774	0.82651	1.0:0.0:0.0:0.0	.	172;172	O43149-3;O43149	.;ZZEF1_HUMAN	I	172	ENSP00000371051:F172I	ENSP00000371051:F172I	F	-	1	0	ZZEF1	3967195	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	TTT		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	27	0	0	0	1	0	17	27				
ZNF573	126231	broad.mit.edu	37	19	38229572	38229572	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38229572C>T	ENST00000590414.2	-	4	1840	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	ZNF573_ENST00000339503.4_Missense_Mutation_p.G549R|ZNF573_ENST00000536220.1_Missense_Mutation_p.G519R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G519R|ZNF573_ENST00000392138.1_Missense_Mutation_p.G520R			Q86YE8	ZN573_HUMAN	zinc finger protein 573	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAGGTTTTCCACCAGTATGA	0.388																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1645-1647)Gga>Aga		zinc finger protein 573							76.0	77.0	77.0					19																	38229572		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229572C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1819G>A	19.37:g.38229572C>T	ENSP00000465020:p.Gly607Arg					ZNF573_ENST00000536220.1_Missense_Mutation_p.G519R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G519R|ZNF573_ENST00000590414.2_Missense_Mutation_p.G607R|ZNF573_ENST00000392138.1_Missense_Mutation_p.G520R	p.G549R	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	2146	-			587					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1645G>A	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379261	0.82682	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	2.4	-0.844	0.10741	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	N	0.20357	0.565	0.24148	N	0.995702	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.001	T	0.29181	-1.0020	9	0.87932	D	0	.	6.5989	0.22689	0.0:0.6693:0.0:0.3307	.	520;549;587;519	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	R	520;519;519;549;519	ENSP00000375983:G520R;ENSP00000440464:G519R;ENSP00000349861:G519R;ENSP00000340171:G549R	ENSP00000340171:G549R	G	-	1	0	ZNF573	42921412	0.002000	0.14202	0.024000	0.17045	0.992000	0.81027	1.630000	0.37081	-0.454000	0.07066	0.585000	0.79938	GGA		0.388	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		41	43	0	0	0	1	0	41	43				
TRPM2	7226	broad.mit.edu	37	21	45784133	45784133	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45784133G>A	ENST00000397928.1	+	3	836	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	TRPM2_ENST00000300482.5_Missense_Mutation_p.V131I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V131I|TRPM2_ENST00000397932.2_Missense_Mutation_p.V131I	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	131					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGCGACATCGTCTTCACGGG	0.577																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(391-393)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 2							180.0	140.0	154.0					21																	45784133		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784133G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.391G>A	21.37:g.45784133G>A	ENSP00000381023:p.Val131Ile					TRPM2_ENST00000397932.2_Missense_Mutation_p.V131I|TRPM2_ENST00000300481.9_Missense_Mutation_p.V131I|TRPM2_ENST00000300482.5_Missense_Mutation_p.V131I	p.V131I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			3	836	+			131					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.391G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602339	0.13939	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.18	3.29	0.37713	.	0.564837	0.18220	N	0.147907	T	0.34658	0.0905	L	0.53249	1.67	0.22280	N	0.999232	P;P	0.46277	0.743;0.875	B;B	0.27500	0.08;0.08	T	0.37454	-0.9705	10	0.44086	T	0.13	-25.2883	4.5024	0.11870	0.2788:0.1826:0.5386:0.0	.	131;131	E9PGK7;O94759	.;TRPM2_HUMAN	I	131	ENSP00000300482:V131I;ENSP00000393982:V131I;ENSP00000381023:V131I;ENSP00000300481:V131I;ENSP00000381026:V131I	ENSP00000300481:V131I	V	+	1	0	TRPM2	44608561	0.007000	0.16637	0.865000	0.33974	0.092000	0.18411	1.757000	0.38400	0.727000	0.32360	0.462000	0.41574	GTC		0.577	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		21	15	0	0	0	1	0	21	15				
ALKBH3	221120	broad.mit.edu	37	11	43918781	43918781	+	Intron	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:43918781C>A	ENST00000302708.4	+	8	870				ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000378840.4_Missense_Mutation_p.P135H	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	aagtcagcacctgtTAGTGGA	0.473								Direct reversal of damage																														ENST00000378840.4																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)	8						c.(403-405)cCt>cAt	Direct reversal of damage	alkB, alkylation repair homolog 3 (E. coli)	Vitamin C(DB00126)						67.0	68.0	68.0					11																	43918781		876	1991	2867	SO:0001627	intron_variant	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43918781C>A	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.460-4285C>A	11.37:g.43918781C>A						ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron	p.P135H			Q96Q83	ALKB3_HUMAN			7	809	+			0					A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.404C>A	CCDS7906.1	.	.	.	.	.	.	.	.	.	.	C	2.973	-0.211972	0.06140	.	.	ENSG00000166199	ENST00000378840	.	.	.	0.149	-0.298	0.12814	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23476	-1.0187	4	0.25751	T	0.34	.	.	.	.	.	.	.	.	H	135	.	ENSP00000368117:P135H	P	+	2	0	ALKBH3	43875357	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-2.480000	0.00983	-1.112000	0.02984	-1.112000	0.02068	CCT		0.473	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		18	22	1	0	3.41278e-10	1	3.64137e-10	18	22				
ERGIC3	51614	broad.mit.edu	37	20	34135185	34135185	+	Silent	SNP	G	G	A	rs201814399		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34135185G>A	ENST00000348547.2	+	5	467	c.390G>A	c.(388-390)acG>acA	p.T130T	ERGIC3_ENST00000279052.6_Silent_p.T130T|ERGIC3_ENST00000357394.4_Silent_p.T130T|ERGIC3_ENST00000447986.1_Silent_p.T130T	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	130					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCGAGGTGACGGTGTTTGACC	0.592																																						ENST00000348547.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16						c.(388-390)acG>acA		ERGIC and golgi 3		G	,	0,4406		0,0,2203	126.0	87.0	100.0		390,390	-2.2	1.0	20		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ERGIC3	NM_015966.2,NM_198398.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	130/384,130/389	34135185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51614				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	g.chr20:34135185G>A	AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.390G>A	20.37:g.34135185G>A						ERGIC3_ENST00000447986.1_Silent_p.T130T|ERGIC3_ENST00000357394.4_Silent_p.T130T|ERGIC3_ENST00000279052.6_Silent_p.T130T	p.T130T	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		5	467	+	Lung NSC(9;0.00489)|all_lung(11;0.00729)		130					Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Silent	SNP	ENST00000348547.2	37	c.390G>A	CCDS13257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.345|9.345	1.064138|1.064138	0.20067|0.20067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000125991|ENSG00000125991	ENST00000413587|ENST00000416206	.|.	.|.	.|.	4.4|4.4	-2.17|-2.17	0.07059|0.07059	.|.	.|.	.|.	.|.	.|.	T|T	0.48077|0.48077	0.1480|0.1480	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36720|0.36720	-0.9736|-0.9736	4|4	.|.	.|.	.|.	-25.4455|-25.4455	5.023|5.023	0.14370|0.14370	0.4075:0.2692:0.3233:0.0|0.4075:0.2692:0.3233:0.0	.|.	.|.	.|.	.|.	S|Q	132|129	.|.	.|.	G|R	+|+	1|2	0|0	ERGIC3|ERGIC3	33598599|33598599	0.718000|0.718000	0.27976|0.27976	0.987000|0.987000	0.45799|0.45799	0.977000|0.977000	0.68977|0.68977	0.213000|0.213000	0.17521|0.17521	-0.456000|-0.456000	0.07043|0.07043	-0.266000|-0.266000	0.10368|0.10368	GGT|CGG		0.592	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966		3	13	0	0	0	1	0	3	13				
EPHA5	2044	broad.mit.edu	37	4	66356360	66356360	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:66356360C>T	ENST00000273854.3	-	5	1737	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	EPHA5_ENST00000511294.1_Silent_p.P379P|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	379	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCAGCAGGCGGAATCCATT	0.458										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1135-1137)ccG>ccA		EPH receptor A5							84.0	69.0	74.0					4																	66356360		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356360C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1137G>A	4.37:g.66356360C>T		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.P379P|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000432638.2_Intron	p.P379P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1737	-			379			Fibronectin type-III 1.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1137G>A	CCDS3513.1																																																																																				0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	20	0	0	0	1	0	10	20				
NEK4	6787	broad.mit.edu	37	3	52771727	52771727	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52771727G>T	ENST00000233027.5	-	15	2510	c.2308C>A	c.(2308-2310)Cca>Aca	p.P770T	NEK4_ENST00000535191.1_Missense_Mutation_p.P681T|NEK4_ENST00000383721.4_Missense_Mutation_p.P724T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	770					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCAGAACCTGGCATAATAGCT	0.348																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(2308-2310)Cca>Aca		NIMA-related kinase 4							84.0	80.0	82.0					3																	52771727		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52771727G>T	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2308C>A	3.37:g.52771727G>T	ENSP00000233027:p.Pro770Thr					NEK4_ENST00000535191.1_Missense_Mutation_p.P681T|NEK4_ENST00000383721.4_Missense_Mutation_p.P724T	p.P770T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	15	2510	-			770					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2308C>A	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062866	0.19987	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72394	-0.51;-0.58;-0.48;-0.65	5.73	3.9	0.45041	.	0.315170	0.27720	N	0.018135	T	0.52549	0.1741	L	0.42245	1.32	0.47476	D	0.999439	B;P;B	0.35401	0.397;0.499;0.366	B;B;B	0.30251	0.113;0.102;0.077	T	0.49790	-0.8902	10	0.06625	T	0.88	.	8.3518	0.32307	0.2357:0.0:0.7643:0.0	.	681;724;770	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	T	770;681;724;681	ENSP00000233027:P770T;ENSP00000437703:P681T;ENSP00000373227:P724T;ENSP00000419666:P681T	ENSP00000233027:P770T	P	-	1	0	NEK4	52746767	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	3.860000	0.55995	1.552000	0.49463	0.655000	0.94253	CCA		0.348	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		15	30	1	0	2.23348e-06	1	2.32236e-06	15	30				
CCSER2	54462	broad.mit.edu	37	10	86131100	86131100	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:86131100C>T	ENST00000224756.8	+	2	477	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	CCSER2_ENST00000359979.4_Missense_Mutation_p.R98C|CCSER2_ENST00000372088.2_Missense_Mutation_p.R98C	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	98					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TCCTGAAAAACGTGTTCCTAC	0.338																																						ENST00000224756.8																			0											c.(292-294)Cgt>Tgt		coiled-coil serine-rich protein 2							54.0	53.0	54.0					10																	86131100		2203	4299	6502	SO:0001583	missense	54462							g.chr10:86131100C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.292C>T	10.37:g.86131100C>T	ENSP00000224756:p.Arg98Cys					CCSER2_ENST00000359979.4_Missense_Mutation_p.R98C|CCSER2_ENST00000372088.2_Missense_Mutation_p.R98C	p.R98C	NM_018999.2	NP_061872.2					2	477	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.292C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776929	0.16120	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.42513	0.97;2.3;2.3	6.06	5.15	0.70609	.	0.381444	0.25442	N	0.030646	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	P;P;P	0.49447	0.61;0.924;0.629	B;B;B	0.40782	0.235;0.34;0.015	T	0.04255	-1.0965	10	0.33940	T	0.23	-5.8066	10.2074	0.43120	0.1538:0.6981:0.1481:0.0	.	98;98;98	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	C	98	ENSP00000353068:R98C;ENSP00000224756:R98C;ENSP00000361160:R98C	ENSP00000224756:R98C	R	+	1	0	FAM190B	86121080	0.980000	0.34600	0.883000	0.34634	0.282000	0.26991	2.116000	0.41930	1.550000	0.49438	0.655000	0.94253	CGT		0.338	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		18	18	0	0	0	1	0	18	18				
MAP2K2	5605	broad.mit.edu	37	19	4110567	4110567	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4110567G>A	ENST00000262948.5	-	3	643	c.390C>T	c.(388-390)atC>atT	p.I130I	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.I33I	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	AGAAGCCCACGATGTACGGCG	0.617																																						ENST00000262948.5																			0											c.(388-390)atC>atT		mitogen-activated protein kinase kinase 2							92.0	77.0	82.0					19																	4110567		2203	4300	6503	SO:0001819	synonymous_variant	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4110567G>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.390C>T	19.37:g.4110567G>A						MAP2K2_ENST00000394867.4_Silent_p.I33I|MAP2K2_ENST00000599345.1_5'UTR	p.I130I	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	643	-		Hepatocellular(1079;0.137)	130			Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.390C>T	CCDS12120.1																																																																																				0.617	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			10	25	0	0	0	1	0	10	25				
NGEF	25791	broad.mit.edu	37	2	233744303	233744303	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233744303G>A	ENST00000264051.3	-	15	2307	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	NGEF_ENST00000539537.1_Missense_Mutation_p.R400W|NGEF_ENST00000373552.4_Missense_Mutation_p.R585W	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	677					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCTGGGACCGGATCTTGGGA	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2029-2031)Cgg>Tgg		neuronal guanine nucleotide exchange factor							92.0	91.0	92.0					2																	233744303		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744303G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2029C>T	2.37:g.233744303G>A	ENSP00000264051:p.Arg677Trp					NGEF_ENST00000539537.1_Missense_Mutation_p.R400W|NGEF_ENST00000373552.4_Missense_Mutation_p.R585W	p.R677W	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	15	2307	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	677					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2029C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	g	19.03	3.747004	0.69418	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.74526	-0.6;-0.85;-0.72	4.19	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78064	-0.2350	10	0.87932	D	0	-28.6024	11.908	0.52723	0.0:0.0:0.6839:0.3161	.	585;677	E9PC42;Q8N5V2	.;NGEF_HUMAN	W	677;585;567;400	ENSP00000264051:R677W;ENSP00000362653:R585W;ENSP00000439035:R400W	ENSP00000264051:R677W	R	-	1	2	NGEF	233452547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.004000	0.63966	0.716000	0.32124	-0.319000	0.08680	CGG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		40	63	0	0	0	1	0	40	63				
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.V221I(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(661-663)Gtc>Atc		olfactory receptor, family 10, subfamily G, member 8							171.0	148.0	156.0					11																	123900990		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900990G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile						p.V221I	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	694	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.661G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		27	54	0	0	0	1	0	27	54				
KMT2E	55904	broad.mit.edu	37	7	104742610	104742610	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:104742610A>C	ENST00000311117.3	+	17	2710	c.2165A>C	c.(2164-2166)aAa>aCa	p.K722T	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.K722T|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.K722T	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	722					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GCACTTAATAAATGTCCTACC	0.289																																						ENST00000334877.4																			0											c.(2164-2166)aAa>aCa		lysine (K)-specific methyltransferase 2E							65.0	70.0	68.0					7																	104742610		2202	4298	6500	SO:0001583	missense	55904							g.chr7:104742610A>C	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2165A>C	7.37:g.104742610A>C	ENSP00000312379:p.Lys722Thr					KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.K722T|KMT2E_ENST00000257745.4_Missense_Mutation_p.K722T	p.K722T							17	2699	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2165A>C	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069413	0.36470	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.92249	-3.0;-2.61;-3.0	5.75	5.75	0.90469	.	0.146398	0.52532	D	0.000071	D	0.92368	0.7578	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	D	0.91301	0.5067	10	0.30078	T	0.28	.	16.0663	0.80878	1.0:0.0:0.0:0.0	.	722	Q8IZD2	MLL5_HUMAN	T	722;722;722;642;722	ENSP00000312379:K722T;ENSP00000335599:K722T;ENSP00000257745:K722T	ENSP00000257745:K722T	K	+	2	0	MLL5	104529846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.915000	0.63355	2.201000	0.70794	0.533000	0.62120	AAA		0.289	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			19	42	0	0	0	1	0	19	42				
SLC35F3	148641	broad.mit.edu	37	1	234367480	234367480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234367480C>T	ENST00000366617.3	+	2	622	c.394C>T	c.(394-396)Cga>Tga	p.R132*	SLC35F3_ENST00000366618.3_Nonsense_Mutation_p.R201*			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGTGAAGCAGCGATACAGGTA	0.602																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(601-603)Cga>Tga		solute carrier family 35, member F3							101.0	95.0	97.0					1																	234367480		2203	4300	6503	SO:0001587	stop_gained	148641				transport	integral to membrane		g.chr1:234367480C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.394C>T	1.37:g.234367480C>T	ENSP00000355576:p.Arg132*					SLC35F3_ENST00000366617.3_Nonsense_Mutation_p.R132*	p.R201*	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	746	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	132					Q5TDD6|Q8N9C9	Nonsense_Mutation	SNP	ENST00000366617.3	37	c.601C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.162824	0.94727	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	.	.	.	4.47	-1.05	0.10036	.	0.085006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.1846	13.6962	0.62580	0.4738:0.5262:0.0:0.0	.	.	.	.	X	201;132	.	ENSP00000355576:R132X	R	+	1	2	SLC35F3	232434103	1.000000	0.71417	0.987000	0.45799	0.268000	0.26511	2.920000	0.48844	-0.392000	0.07751	-2.023000	0.00429	CGA		0.602	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		58	75	0	0	0	1	0	58	75				
KMT2A	4297	broad.mit.edu	37	11	118376991	118376991	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118376991C>T	ENST00000389506.5	+	27	10375	c.10375C>T	c.(10375-10377)Ctt>Ttt	p.L3459F	KMT2A_ENST00000354520.4_Missense_Mutation_p.L3421F|KMT2A_ENST00000534358.1_Missense_Mutation_p.L3462F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3459					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.L3459F(1)									GAACCAGCTCCTTGCCAGCAA	0.527																																						ENST00000534358.1																			1	Substitution - Missense(1)	p.L3459F(1)	skin(1)								c.(10384-10386)Ctt>Ttt		lysine (K)-specific methyltransferase 2A							122.0	107.0	112.0					11																	118376991		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118376991C>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.10375C>T	11.37:g.118376991C>T	ENSP00000374157:p.Leu3459Phe					KMT2A_ENST00000389506.5_Missense_Mutation_p.L3459F|KMT2A_ENST00000354520.4_Missense_Mutation_p.L3421F	p.L3462F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10407	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10384C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607632	0.46527	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85629	-2.01;-2.01;-1.98	6.08	6.08	0.98989	.	0.224065	0.38548	N	0.001657	D	0.88085	0.6342	L	0.40543	1.245	0.53005	D	0.999961	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	D	0.88061	0.2794	10	0.62326	D	0.03	.	14.2312	0.65892	0.0:0.924:0.0:0.076	.	3462;3459	E9PQG7;Q03164	.;MLL1_HUMAN	F	3462;3459;3421;2369	ENSP00000436786:L3462F;ENSP00000374157:L3459F;ENSP00000346516:L3421F	ENSP00000346516:L3421F	L	+	1	0	MLL	117882201	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	1.535000	0.36061	2.894000	0.99253	0.591000	0.81541	CTT		0.527	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		46	52	0	0	0	1	0	46	52				
NOL10	79954	broad.mit.edu	37	2	10729320	10729320	+	Missense_Mutation	SNP	G	G	A	rs546811374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10729320G>A	ENST00000381685.5	-	19	1798	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	NOL10_ENST00000538384.1_Missense_Mutation_p.R539C|NOL10_ENST00000345985.3_Missense_Mutation_p.R515C|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.R515C	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	565						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		AGGAGTCTGCGTTGCTTCCTG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19212	0.001		0.0	False		,,,				2504	0.0					ENST00000345985.3																			0											c.(1543-1545)Cgc>Tgc		nucleolar protein 10							155.0	155.0	155.0					2																	10729320		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10729320G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1693C>T	2.37:g.10729320G>A	ENSP00000371101:p.Arg565Cys					NOL10_ENST00000381685.5_Missense_Mutation_p.R565C|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.R539C|NOL10_ENST00000542668.1_Missense_Mutation_p.R515C	p.R515C	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	18	1653	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		565					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1543C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912845	0.92178	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46819	0.86;2.07;1.46;2.07	5.35	5.35	0.76521	.	0.045875	0.85682	D	0.000000	T	0.63546	0.2520	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.57960	0.735;0.735;0.83	T	0.64089	-0.6489	10	0.52906	T	0.07	-2.6116	19.4317	0.94772	0.0:0.0:1.0:0.0	.	539;565;515	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	C	515;565;515;539	ENSP00000263837:R515C;ENSP00000371101:R565C;ENSP00000437625:R515C;ENSP00000439663:R539C	ENSP00000263837:R515C	R	-	1	0	NOL10	10646771	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.174000	0.94824	2.668000	0.90789	0.591000	0.81541	CGC		0.507	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		19	48	0	0	0	1	0	19	48				
AXIN2	8313	broad.mit.edu	37	17	63534419	63534419	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63534419C>T	ENST00000375702.5	-	4	1210	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.A368T			Q9Y2T1	AXIN2_HUMAN	axin 2	368	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.A368P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCAAAGGTGGCGGGTTCCACG	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			1	Substitution - Missense(1)	p.A368P(1)	lung(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1102-1104)Gcc>Acc		axin 2							64.0	59.0	61.0					17																	63534419		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63534419C>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1102G>A	17.37:g.63534419C>T	ENSP00000364854:p.Ala368Thr					AXIN2_ENST00000375702.5_Missense_Mutation_p.A368T|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.A368T	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			5	1415	-			368			Interaction with GSK3B (By similarity).		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1102G>A		.	.	.	.	.	.	.	.	.	.	C	16.33	3.092205	0.55968	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.81247	-1.47;-1.47	5.3	4.3	0.51218	.	0.106552	0.64402	N	0.000007	T	0.81451	0.4825	M	0.71581	2.175	0.58432	D	0.999992	D;P;D	0.64830	0.962;0.914;0.994	B;B;P	0.46585	0.266;0.326;0.521	T	0.82242	-0.0554	10	0.49607	T	0.09	-8.3427	13.0986	0.59208	0.0:0.9192:0.0:0.0808	.	368;368;368	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	T	368	ENSP00000302625:A368T;ENSP00000364854:A368T	ENSP00000302625:A368T	A	-	1	0	AXIN2	60964881	0.902000	0.30710	0.494000	0.27515	0.977000	0.68977	1.878000	0.39608	1.168000	0.42723	0.555000	0.69702	GCC		0.627	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		17	17	0	0	0	1	0	17	17				
IFI6	2537	broad.mit.edu	37	1	27994863	27994863	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27994863C>T	ENST00000361157.6	-	4	299	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	IFI6_ENST00000362020.4_Missense_Mutation_p.A62T|RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000339145.4_Missense_Mutation_p.A66T	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	58					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCCCAGCGCGGGCAGCCCG	0.741																																						ENST00000361157.6																			0				lung(1)|ovary(1)	2						c.(172-174)Gcg>Acg		interferon, alpha-inducible protein 6							5.0	7.0	6.0					1																	27994863		2059	3983	6042	SO:0001583	missense	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27994863C>T	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.172G>A	1.37:g.27994863C>T	ENSP00000354736:p.Ala58Thr					IFI6_ENST00000339145.4_Missense_Mutation_p.A66T|IFI6_ENST00000362020.4_Missense_Mutation_p.A62T	p.A58T	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	299	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	58					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.172G>A	CCDS306.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198559	0.58126	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.36878	1.23;1.23;1.23	3.41	2.49	0.30216	.	0.718660	0.13099	N	0.413935	T	0.48040	0.1478	M	0.83223	2.63	0.09310	N	1	D;D;D	0.60160	0.971;0.971;0.987	P;P;P	0.50860	0.575;0.575;0.652	T	0.40251	-0.9573	10	0.72032	D	0.01	.	6.7582	0.23526	0.0:0.866:0.0:0.134	.	62;58;66	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	T	58;66;62	ENSP00000354736:A58T;ENSP00000342513:A66T;ENSP00000355152:A62T	ENSP00000342513:A66T	A	-	1	0	IFI6	27867450	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	-0.417000	0.07088	0.783000	0.33636	0.563000	0.77884	GCG		0.741	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873		4	1	0	0	0	1	0	4	1				
CLIP4	79745	broad.mit.edu	37	2	29404659	29404659	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:29404659G>A	ENST00000320081.5	+	16	2273	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	CLIP4_ENST00000404424.1_Missense_Mutation_p.R673H|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	673	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGTGACAAGCGCTATTTCACC	0.488																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(2017-2019)cGc>cAc		CAP-GLY domain containing linker protein family, member 4							124.0	123.0	124.0					2																	29404659		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29404659G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.2018G>A	2.37:g.29404659G>A	ENSP00000327009:p.Arg673His					CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.R673H	p.R673H	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			16	2273	+	Acute lymphoblastic leukemia(172;0.155)		673			CAP-Gly 3.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.2018G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987966	0.93106	.	.	ENSG00000115295	ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D	0.92965	-3.14;-3.14	5.69	4.82	0.62117	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.111812	0.64402	D	0.000007	D	0.96090	0.8726	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	D	0.96309	0.9227	9	.	.	.	.	14.7655	0.69634	0.0693:0.0:0.9307:0.0	.	673	Q8N3C7	CLIP4_HUMAN	H	673;675;673;691;633	ENSP00000385594:R673H;ENSP00000327009:R673H	.	R	+	2	0	CLIP4	29258163	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	9.582000	0.98214	1.424000	0.47217	0.561000	0.74099	CGC		0.488	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		32	41	0	0	0	1	0	32	41				
TRPC3	7222	broad.mit.edu	37	4	122854099	122854099	+	Missense_Mutation	SNP	C	C	T	rs200623780		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122854099C>T	ENST00000379645.3	-	2	387	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TRPC3_ENST00000513531.1_Missense_Mutation_p.R32H|TRPC3_ENST00000264811.5_Missense_Mutation_p.R32H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	20					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R32H(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGGTGCCGCGGTCATTGAA	0.657																																						ENST00000264811.5																			1	Substitution - Missense(1)	p.R32H(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(94-96)cGc>cAc		transient receptor potential cation channel, subfamily C, member 3		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	34.0	34.0		95,314	5.9	0.8	4		34	0,8598		0,0,4299	no	missense,missense	TRPC3	NM_003305.2,NM_001130698.1	29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	32/849,105/922	122854099	1,13003	2203	4299	6502	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122854099C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.314G>A	4.37:g.122854099C>T	ENSP00000368966:p.Arg105His					TRPC3_ENST00000379645.3_Missense_Mutation_p.R105H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R32H	p.R32H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	513	-			20					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.95G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721738	0.48728	2.27E-4	0.0	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86366	-0.73;-0.94;-0.9;-2.11	5.94	5.94	0.96194	.	0.192291	0.43110	D	0.000615	T	0.80476	0.4630	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.14805	0.006;0.011	B;B	0.10450	0.004;0.005	T	0.72984	-0.4125	10	0.19147	T	0.46	-0.049	20.3736	0.98901	0.0:1.0:0.0:0.0	.	32;105	E9PCJ9;Q5G1L5	.;.	H	32;105;32;32	ENSP00000264811:R32H;ENSP00000368966:R105H;ENSP00000426899:R32H;ENSP00000422214:R32H	ENSP00000264811:R32H	R	-	2	0	TRPC3	123073549	1.000000	0.71417	0.769000	0.31535	0.445000	0.32107	4.002000	0.57053	2.820000	0.97059	0.650000	0.86243	CGC		0.657	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		18	34	0	0	0	1	0	18	34				
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1606-1608)Ggt>Agt									51.0	58.0	56.0					5																	140503186		2203	4297	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503186G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1606G>A	5.37:g.140503186G>A	ENSP00000194152:p.Gly536Ser						p.G536S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1606	+			536			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1606G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372354	0.82573	.	.	ENSG00000081818	ENST00000194152	T	0.01647	4.71	3.88	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16727	0.0402	H	0.95816	3.725	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	9	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	536	Q9Y5E5	PCDB4_HUMAN	S	536	ENSP00000194152:G536S	ENSP00000194152:G536S	G	+	1	0	PCDHB4	140483370	1.000000	0.71417	0.171000	0.22900	0.664000	0.39144	9.415000	0.97375	2.189000	0.69895	0.485000	0.47835	GGT		0.662	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		31	32	0	0	0	1	0	31	32				
ZAN	7455	broad.mit.edu	37	7	100334249	100334249	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100334249G>A	ENST00000348028.3	+	0	415				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G84R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTACCCTAACGGAGGTGAGGG	0.657																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.G84R(1)	pancreas(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							32.0	32.0	32.0					7																	100334249		1796	3856	5652			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334249G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334249G>A						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	398	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	13.93	2.384316	0.42308	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02682	4.2;4.2;4.2	4.55	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.533294	0.14215	N	0.333773	T	0.11623	0.0283	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	T	0.01042	-1.1471	10	0.87932	D	0	.	8.3291	0.32175	0.1193:0.0:0.8807:0.0	.	84;84	F5H0T8;Q9Y493	.;ZAN_HUMAN	R	84	ENSP00000445943:G84R;ENSP00000445091:G84R;ENSP00000444427:G84R	ENSP00000423579:G84R	G	+	1	0	ZAN	100172185	0.971000	0.33674	0.808000	0.32385	0.015000	0.08874	1.738000	0.38207	1.172000	0.42781	0.561000	0.74099	GGA		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		25	37	0	0	0	1	0	25	37				
NIN	51199	broad.mit.edu	37	14	51227074	51227074	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:51227074G>A	ENST00000382041.3	-	17	2090	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	NIN_ENST00000324330.9_Missense_Mutation_p.R634C|NIN_ENST00000245441.5_Missense_Mutation_p.R634C|NIN_ENST00000530997.2_Missense_Mutation_p.R634C|NIN_ENST00000382043.4_Missense_Mutation_p.R634C|NIN_ENST00000389868.3_Missense_Mutation_p.R634C|NIN_ENST00000453196.1_Missense_Mutation_p.R634C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	634					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATAATGGCGCACCTGAAGG	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(1900-1902)Cgc>Tgc		ninein (GSK3B interacting protein)							45.0	46.0	46.0					14																	51227074		2137	4220	6357	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227074G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1900C>T	14.37:g.51227074G>A	ENSP00000371472:p.Arg634Cys					NIN_ENST00000530997.2_Missense_Mutation_p.R634C|NIN_ENST00000453196.1_Missense_Mutation_p.R634C|NIN_ENST00000389868.3_Missense_Mutation_p.R634C|NIN_ENST00000382041.3_Missense_Mutation_p.R634C|NIN_ENST00000382043.4_Missense_Mutation_p.R634C|NIN_ENST00000324330.9_Missense_Mutation_p.R634C	p.R634C	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			17	2090	-	all_epithelial(31;0.00244)|Breast(41;0.127)		634					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1900C>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.84|12.84	2.057688|2.057688	0.36277|0.36277	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.12147	.|3.47;2.71;2.71;3.2;3.2;3.21	5.93|5.93	1.68|1.68	0.24146|0.24146	.|.	.|1.334670	.|0.04379	.|N	.|0.360457	T|T	0.21718|0.21718	0.0523|0.0523	L|L	0.47716|0.47716	1.5|1.5	0.32360|0.32360	N|N	0.557369|0.557369	.|D;D;D;B;D	.|0.61080	.|0.989;0.988;0.975;0.001;0.981	.|P;P;P;B;P	.|0.50708	.|0.646;0.526;0.613;0.0;0.648	T|T	0.27123|0.27123	-1.0083|-1.0083	5|10	.|0.59425	.|D	.|0.04	3.2353|3.2353	8.695|8.695	0.34289|0.34289	0.0761:0.0:0.4835:0.4405|0.0761:0.0:0.4835:0.4405	.|.	.|640;634;634;634;634	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	V|C	124|634;617;634;634;640;634;634;634	.|ENSP00000245441:R634C;ENSP00000374518:R634C;ENSP00000371474:R634C;ENSP00000371472:R634C;ENSP00000324210:R634C;ENSP00000412391:R634C	.|ENSP00000245441:R634C	A|R	-|-	2|1	0|0	NIN|NIN	50296824|50296824	0.767000|0.767000	0.28508|0.28508	0.705000|0.705000	0.30386|0.30386	0.022000|0.022000	0.10575|0.10575	1.077000|1.077000	0.30741|0.30741	0.844000|0.844000	0.35094|0.35094	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		16	25	0	0	0	1	0	16	25				
FGF23	8074	broad.mit.edu	37	12	4479656	4479656	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4479656C>T	ENST00000237837.1	-	3	754	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AACAGGAGGCCGGGGCCGGGG	0.706																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)ccG>ccA		fibroblast growth factor 23							17.0	21.0	19.0					12																	4479656		2201	4298	6499	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479656C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.609G>A	12.37:g.4479656C>T							p.P203P	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	754	-			203					Q4V758	Silent	SNP	ENST00000237837.1	37	c.609G>A	CCDS8526.1																																																																																				0.706	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			13	18	0	0	0	1	0	13	18				
ZNF669	79862	broad.mit.edu	37	1	247267486	247267486	+	Missense_Mutation	SNP	G	G	A	rs148474673	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:247267486G>A	ENST00000343381.6	-	1	188	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ZNF669_ENST00000358785.4_Missense_Mutation_p.R6C|ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000366501.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GAAGCCAGGCGCAGTCCACTC	0.657																																						ENST00000343381.6																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(16-18)Cgc>Tgc		zinc finger protein 669							21.0	25.0	24.0					1																	247267486		2201	4299	6500	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247267486G>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.16C>T	1.37:g.247267486G>A	ENSP00000342818:p.Arg6Cys					ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000358785.4_Missense_Mutation_p.R6C|ZNF669_ENST00000366501.1_Intron	p.R6C	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		1	188	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		6					B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.16C>T	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331849	0.41297	.	.	ENSG00000188295	ENST00000358785;ENST00000343381;ENST00000476158	T;T;T	0.05855	4.75;3.38;4.72	0.968	0.968	0.19680	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.60541	0.876	T	0.31861	-0.9928	9	0.49607	T	0.09	.	5.6231	0.17467	0.0:0.0:1.0:0.0	.	6	Q96BR6	ZN669_HUMAN	C	6	ENSP00000351636:R6C;ENSP00000342818:R6C;ENSP00000429550:R6C	ENSP00000342818:R6C	R	-	1	0	ZNF669	245334109	0.004000	0.15560	0.021000	0.16686	0.021000	0.10359	0.641000	0.24720	0.284000	0.22305	0.289000	0.19496	CGC		0.657	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		5	17	0	0	0	1	0	5	17				
PTGER2	5732	broad.mit.edu	37	14	52781866	52781866	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52781866C>T	ENST00000245457.5	+	1	754	c.600C>T	c.(598-600)taC>taT	p.Y200Y	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	200					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCAGCTGTACGCCACCCTGC	0.627																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(598-600)taC>taT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						65.0	55.0	58.0					14																	52781866		2203	4300	6503	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781866C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.600C>T	14.37:g.52781866C>T						PTGER2_ENST00000557436.1_Intron	p.Y200Y	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	754	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		200					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.600C>T	CCDS9708.1																																																																																				0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			16	20	0	0	0	1	0	16	20				
CHRNA9	55584	broad.mit.edu	37	4	40339294	40339294	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40339294C>T	ENST00000310169.2	+	3	417	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	93					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GCCTATCTCACGTGGGACCGA	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(277-279)aCg>aTg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						104.0	82.0	90.0					4																	40339294		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339294C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.278C>T	4.37:g.40339294C>T	ENSP00000312663:p.Thr93Met						p.T93M	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	417	+			93					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.278C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523392	0.27299	.	.	ENSG00000174343	ENST00000310169	T	0.79653	-1.29	5.83	2.97	0.34412	Neurotransmitter-gated ion-channel ligand-binding (3);	0.574147	0.20312	N	0.094820	T	0.78805	0.4341	L	0.45422	1.42	0.29053	N	0.884369	D	0.52996	0.957	P	0.56700	0.804	T	0.72134	-0.4382	10	0.72032	D	0.01	.	2.8507	0.05556	0.3226:0.3088:0.2829:0.0857	.	93	Q9UGM1	ACHA9_HUMAN	M	93	ENSP00000312663:T93M	ENSP00000312663:T93M	T	+	2	0	CHRNA9	40034051	0.978000	0.34361	0.976000	0.42696	0.375000	0.29983	2.543000	0.45752	0.763000	0.33175	0.591000	0.81541	ACG		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			9	11	0	0	0	1	0	9	11				
ZNFX1	57169	broad.mit.edu	37	20	47864562	47864562	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47864562G>A	ENST00000396105.1	-	14	5245	c.4999C>T	c.(4999-5001)Ctg>Ttg	p.L1667L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.L1667L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1667							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTCCAGCAGGGCCTTAAGC	0.507																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4999-5001)Ctg>Ttg		zinc finger, NFX1-type containing 1							81.0	87.0	85.0					20																	47864562		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47864562G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4999C>T	20.37:g.47864562G>A						ZNFX1_ENST00000371752.1_Silent_p.L1667L|ZNFX1_ENST00000371754.4_Intron	p.L1667L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5245	-			1667					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.4999C>T	CCDS13417.1																																																																																				0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		42	67	0	0	0	1	0	42	67				
MYH9	4627	broad.mit.edu	37	22	36700195	36700195	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36700195C>A	ENST00000216181.5	-	19	2466	c.2236G>T	c.(2236-2238)Gcc>Tcc	p.A746S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	746	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTCCAGGGCTTTTATCTAG	0.602			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2236-2238)Gcc>Tcc		myosin, heavy chain 9, non-muscle							56.0	52.0	53.0					22																	36700195		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36700195C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2236G>T	22.37:g.36700195C>A	ENSP00000216181:p.Ala746Ser						p.A746S	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			19	2466	-			746			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2236G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755559	0.49362	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.86769	-2.17	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.122578	0.56097	D	0.000040	T	0.81336	0.4801	L	0.37750	1.13	0.80722	D	1	B	0.15141	0.012	B	0.25506	0.061	T	0.74768	-0.3553	10	0.02654	T	1	.	18.6834	0.91554	0.0:1.0:0.0:0.0	.	746	P35579	MYH9_HUMAN	S	610;746	ENSP00000216181:A746S	ENSP00000216181:A746S	A	-	1	0	MYH9	35030141	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.834000	0.55798	2.495000	0.84180	0.655000	0.94253	GCC		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	22	1	0	6.31663e-08	1	6.64488e-08	13	22				
C14orf93	60686	broad.mit.edu	37	14	23465326	23465326	+	Missense_Mutation	SNP	C	C	T	rs201600502		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23465326C>T	ENST00000299088.6	-	3	1178	c.749G>A	c.(748-750)cGc>cAc	p.R250H	C14orf93_ENST00000397379.3_Missense_Mutation_p.R250H|C14orf93_ENST00000341470.4_Missense_Mutation_p.R250H|C14orf93_ENST00000397377.1_Missense_Mutation_p.R70H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.R250H|C14orf93_ENST00000557513.1_5'Flank|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R250H|RP11-298I3.4_ENST00000557615.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	250						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GTCCTCAGGGCGGGGTGGTGG	0.607																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(748-750)cGc>cAc		chromosome 14 open reading frame 93							118.0	97.0	104.0					14																	23465326		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23465326C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.749G>A	14.37:g.23465326C>T	ENSP00000299088:p.Arg250His					RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.R70H|C14orf93_ENST00000406429.2_Missense_Mutation_p.R250H|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.R250H|C14orf93_ENST00000397379.3_Missense_Mutation_p.R250H|C14orf93_ENST00000397382.4_Missense_Mutation_p.R250H	p.R250H	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	3	1178	-	all_cancers(95;3.3e-05)		250					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.749G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183647	0.78677	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.71	3.89	0.44902	.	0.106375	0.44285	D	0.000476	T	0.33352	0.0860	L	0.27053	0.805	0.29746	N	0.836763	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28427	-1.0044	10	0.62326	D	0.03	-7.4386	9.188	0.37182	0.0:0.7724:0.0:0.2276	.	250;250	Q9H972;Q9H972-2	CN093_HUMAN;.	H	250;250;250;250;70;250;70	ENSP00000299088:R250H;ENSP00000341353:R250H;ENSP00000380535:R250H;ENSP00000380538:R250H;ENSP00000380533:R70H;ENSP00000384768:R250H;ENSP00000380532:R70H	ENSP00000299088:R250H	R	-	2	0	C14orf93	22535166	0.159000	0.22864	0.827000	0.32855	0.963000	0.63663	0.004000	0.13106	0.773000	0.33404	0.655000	0.94253	CGC		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		27	43	0	0	0	1	0	27	43				
PDZRN3	23024	broad.mit.edu	37	3	73433743	73433743	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73433743G>A	ENST00000263666.4	-	10	2088	c.1974C>T	c.(1972-1974)agC>agT	p.S658S	PDZRN3_ENST00000479530.1_Silent_p.S375S|PDZRN3_ENST00000535920.1_Silent_p.S380S|PDZRN3_ENST00000462146.2_Silent_p.S315S|PDZRN3_ENST00000466780.1_Silent_p.S315S|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	658					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGGGGTGGCGCTCTTCACCT	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1972-1974)agC>agT		PDZ domain containing ring finger 3							47.0	51.0	50.0					3																	73433743		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433743G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1974C>T	3.37:g.73433743G>A						PDZRN3_ENST00000535920.1_Silent_p.S380S|PDZRN3_ENST00000462146.2_Silent_p.S315S|PDZRN3_ENST00000466780.1_Silent_p.S315S|PDZRN3_ENST00000479530.1_Silent_p.S375S	p.S658S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2088	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	658					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1974C>T	CCDS33789.1																																																																																				0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		16	31	0	0	0	1	0	16	31				
RAB25	57111	broad.mit.edu	37	1	156038134	156038134	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156038134C>T	ENST00000361084.5	+	3	554	c.313C>T	c.(313-315)Cga>Tga	p.R105*	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	105					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGTGGTGGAGCGATGGCTGAA	0.572																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(313-315)Cga>Tga		RAB25, member RAS oncogene family							106.0	107.0	107.0					1																	156038134		2152	4270	6422	SO:0001587	stop_gained	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038134C>T	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.313C>T	1.37:g.156038134C>T	ENSP00000354376:p.Arg105*					RAB25_ENST00000487325.1_3'UTR	p.R105*	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	554	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		105					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Nonsense_Mutation	SNP	ENST00000361084.5	37	c.313C>T	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512545	0.98329	.	.	ENSG00000132698	ENST00000361084	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5464	0.87863	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000354376:R105X	R	+	1	2	RAB25	154304758	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.723000	0.68492	2.721000	0.93114	0.655000	0.94253	CGA		0.572	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			33	48	0	0	0	1	0	33	48				
KCTD1	284252	broad.mit.edu	37	18	24035721	24035721	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:24035721C>T	ENST00000408011.3	-	5	1319	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCTD1_ENST00000317932.7_Missense_Mutation_p.E254K|KCTD1_ENST00000417602.1_Missense_Mutation_p.E862K|KCTD1_ENST00000580059.1_Missense_Mutation_p.E254K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E254K	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	254					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E254K(1)|p.E862K(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCCAGAGGCTCTTGCTTTATC	0.498																																						ENST00000417602.1																			2	Substitution - Missense(2)	p.E254K(1)|p.E862K(1)	lung(2)	endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2584-2586)Gag>Aag		potassium channel tetramerization domain containing 1							105.0	103.0	104.0					18																	24035721		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24035721C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.760G>A	18.37:g.24035721C>T	ENSP00000384367:p.Glu254Lys					KCTD1_ENST00000580059.1_Missense_Mutation_p.E254K|KCTD1_ENST00000317932.7_Missense_Mutation_p.E254K|KCTD1_ENST00000408011.3_Missense_Mutation_p.E254K|KCTD1_ENST00000579973.1_Missense_Mutation_p.E254K	p.E862K	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		5	2583	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		254					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.2584G>A	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	36	5.637676	0.96693	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;D;T	0.84660	-1.05;-1.88;-1.05	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.52031	0.688	D	0.89014	0.3430	10	0.72032	D	0.01	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	254	Q719H9	KCTD1_HUMAN	K	254;862;254	ENSP00000314831:E254K;ENSP00000408405:E862K;ENSP00000384367:E254K	ENSP00000314831:E254K	E	-	1	0	KCTD1	22289719	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.837000	0.97791	0.591000	0.81541	GAG		0.498	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		19	35	0	0	0	1	0	19	35				
NAB2	4665	broad.mit.edu	37	12	57485260	57485260	+	Missense_Mutation	SNP	G	G	T	rs372063074		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57485260G>T	ENST00000300131.3	+	2	814	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	NAB2_ENST00000342556.6_Missense_Mutation_p.G146C|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.G146C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	146					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAATGGGCATGGCAGCCCAGG	0.602																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(436-438)Ggc>Tgc		NGFI-A binding protein 2 (EGR1 binding protein 2)							67.0	69.0	68.0					12																	57485260		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485260G>T	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.436G>T	12.37:g.57485260G>T	ENSP00000300131:p.Gly146Cys					NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.G146C|NAB2_ENST00000342556.6_Missense_Mutation_p.G146C	p.G146C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	814	+			146					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.436G>T	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434996	0.62955	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.4	2.41	0.29592	.	0.609278	0.15438	N	0.262344	T	0.41811	0.1175	N	0.12182	0.205	0.40141	D	0.976839	D	0.71674	0.998	D	0.66602	0.945	T	0.43147	-0.9409	9	0.66056	D	0.02	-7.144	2.9272	0.05788	0.2619:0.0:0.528:0.2101	.	146	Q15742	NAB2_HUMAN	C	146	.	ENSP00000300131:G146C	G	+	1	0	NAB2	55771527	0.832000	0.29368	0.963000	0.40424	0.893000	0.52053	1.215000	0.32431	0.377000	0.24735	0.462000	0.41574	GGC		0.602	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		26	35	1	0	4.22769e-11	1	4.54161e-11	26	35				
ODC1	4953	broad.mit.edu	37	2	10584237	10584237	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:10584237C>T	ENST00000234111.4	-	5	943	c.433G>A	c.(433-435)Gca>Aca	p.A145T	ODC1_ENST00000446285.1_5'UTR|ODC1_ENST00000405333.1_Missense_Mutation_p.A145T|SNORA80B_ENST00000383906.1_RNA	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	145					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TTGGGATGTGCTCTGGCAACT	0.363																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(433-435)Gca>Aca		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						230.0	242.0	238.0					2																	10584237		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10584237C>T		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.433G>A	2.37:g.10584237C>T	ENSP00000234111:p.Ala145Thr					ODC1_ENST00000405333.1_Missense_Mutation_p.A145T|ODC1_ENST00000446285.1_5'UTR	p.A145T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	5	943	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		145					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.433G>A	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906105	0.33628	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.47869	0.83;0.83	5.37	4.49	0.54785	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.333481	0.37761	N	0.001948	T	0.40372	0.1114	L	0.49571	1.57	0.42178	D	0.991672	B	0.15141	0.012	B	0.25884	0.064	T	0.21759	-1.0236	10	0.22706	T	0.39	.	9.0197	0.36193	0.1485:0.778:0.0:0.0735	.	145	P11926	DCOR_HUMAN	T	145;145;16	ENSP00000234111:A145T;ENSP00000385333:A145T	ENSP00000234111:A145T	A	-	1	0	ODC1	10501688	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	4.714000	0.61902	1.247000	0.43917	0.655000	0.94253	GCA		0.363	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			99	134	0	0	0	1	0	99	134				
CCDC80	151887	broad.mit.edu	37	3	112358653	112358653	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:112358653C>T	ENST00000206423.3	-	2	1053	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.G34R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	34					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTCCGTCCTCCGTGGCTGCCT	0.557																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(100-102)Gga>Aga		coiled-coil domain containing 80							68.0	61.0	64.0					3																	112358653		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358653C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.100G>A	3.37:g.112358653C>T	ENSP00000206423:p.Gly34Arg					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.G34R	p.G34R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1053	-			34					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.100G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	6.632	0.485111	0.12641	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.50277	0.75;0.75	5.25	0.02	0.14123	.	0.536026	0.19685	N	0.108410	T	0.32285	0.0824	L	0.27053	0.805	0.09310	N	1	B;B;B	0.17268	0.014;0.021;0.008	B;B;B	0.14578	0.011;0.007;0.005	T	0.19451	-1.0305	10	0.41790	T	0.15	-0.3018	12.0584	0.53548	0.0:0.4651:0.4694:0.0655	.	45;34;34	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	R	34	ENSP00000206423:G34R;ENSP00000411814:G34R	ENSP00000206423:G34R	G	-	1	0	CCDC80	113841343	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	0.094000	0.15107	-0.173000	0.10761	0.650000	0.86243	GGA		0.557	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		21	30	0	0	0	1	0	21	30				
L2HGDH	79944	broad.mit.edu	37	14	50734519	50734519	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50734519C>A	ENST00000267436.4	-	8	1413	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	L2HGDH_ENST00000261699.4_Missense_Mutation_p.R339I|L2HGDH_ENST00000421284.3_Missense_Mutation_p.R339I			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	339					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTCAAAGGGTCTGTAACCCTC	0.373																																						ENST00000267436.4																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10						c.(1015-1017)aGa>aTa		L-2-hydroxyglutarate dehydrogenase							99.0	88.0	92.0					14																	50734519		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50734519C>A		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1016G>T	14.37:g.50734519C>A	ENSP00000267436:p.Arg339Ile					L2HGDH_ENST00000421284.3_Missense_Mutation_p.R339I|L2HGDH_ENST00000261699.4_Missense_Mutation_p.R339I	p.R339I			Q9H9P8	L2HDH_HUMAN			8	1413	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		339					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.1016G>T	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747157	0.69418	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	T;T;T	0.81330	-1.48;-1.48;-1.48	5.57	0.527	0.17084	FAD dependent oxidoreductase (1);	0.430242	0.30649	N	0.009168	T	0.81678	0.4873	M	0.68952	2.095	0.80722	D	1	P;P	0.48834	0.916;0.544	P;P	0.51550	0.673;0.555	T	0.79911	-0.1603	10	0.62326	D	0.03	-17.7998	10.2247	0.43218	0.0:0.4706:0.0:0.5294	.	339;339	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	I	339	ENSP00000261699:R339I;ENSP00000267436:R339I;ENSP00000405559:R339I	ENSP00000261699:R339I	R	-	2	0	L2HGDH	49804269	0.999000	0.42202	0.997000	0.53966	0.993000	0.82548	0.875000	0.28079	-0.005000	0.14395	0.655000	0.94253	AGA		0.373	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		40	68	1	0	6.5261e-18	1	7.19712e-18	40	68				
LVRN	206338	broad.mit.edu	37	5	115327976	115327976	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115327976C>T	ENST00000357872.4	+	5	1384		c.e5+2		AQPEP_ENST00000395528.2_Splice_Site	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN								integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGACACCAGGCATGTGGTAAA	0.383																																						ENST00000357872.4																			0											c.e5+2									113.0	118.0	116.0					5																	115327976		2201	4299	6500	SO:0001630	splice_region_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327976C>T																												ENST00000357872.4:c.1260+2C>T	5.37:g.115327976C>T						AQPEP_ENST00000395528.2_Splice_Site		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1384	+								A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Splice_Site	SNP	ENST00000357872.4	37		CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300536	0.60195	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	.	.	.	5.81	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9549	0.52976	0.0:0.8264:0.0:0.1736	.	.	.	.	.	-1	.	.	.	+	.	.	AC010282.1	115355875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.760000	0.38430	1.423000	0.47198	0.655000	0.94253	.		0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		Intron	42	66	0	0	0	1	0	42	66				
FBXL8	55336	broad.mit.edu	37	16	67195834	67195834	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67195834A>G	ENST00000258200.3	+	2	323	c.146A>G	c.(145-147)aAa>aGa	p.K49R	HSF4_ENST00000521374.1_5'Flank|FBXL8_ENST00000518148.1_Missense_Mutation_p.K49R|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000421453.1_5'Flank|TRADD_ENST00000566104.1_5'Flank|FBXL8_ENST00000521920.1_Missense_Mutation_p.K49R|FBXL8_ENST00000519917.1_Missense_Mutation_p.K49R|TRADD_ENST00000345057.4_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000584272.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	49										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CACGACACAAAAATCAGGTGA	0.637																																						ENST00000258200.3																			0				endometrium(1)	1						c.(145-147)aAa>aGa		F-box and leucine-rich repeat protein 8							31.0	35.0	34.0					16																	67195834		2196	4300	6496	SO:0001583	missense	55336						protein binding	g.chr16:67195834A>G	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.146A>G	16.37:g.67195834A>G	ENSP00000258200:p.Lys49Arg					FBXL8_ENST00000518148.1_Missense_Mutation_p.K49R|FBXL8_ENST00000519917.1_Missense_Mutation_p.K49R|FBXL8_ENST00000521920.1_Missense_Mutation_p.K49R	p.K49R			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	2	323	+		Ovarian(137;0.0563)	49					Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.146A>G	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.467350	0.63625	.	.	ENSG00000135722	ENST00000258200;ENST00000518148;ENST00000519917;ENST00000517382;ENST00000521920;ENST00000523893;ENST00000519378	T;T;T;T;T	0.54071	0.96;0.59;0.59;2.01;2.01	6.04	-4.27	0.03744	.	1.504080	0.03983	N	0.293705	T	0.28333	0.0700	N	0.13003	0.285	0.09310	N	1	B	0.17667	0.023	B	0.19666	0.026	T	0.07673	-1.0760	10	0.15952	T	0.53	-0.0765	2.0884	0.03651	0.2859:0.3577:0.2407:0.1157	.	49	Q96CD0	FBXL8_HUMAN	R	49	ENSP00000464169:K49R;ENSP00000430745:K49R;ENSP00000427895:K49R;ENSP00000428379:K49R;ENSP00000430027:K49R	ENSP00000258200:K49R	K	+	2	0	FBXL8	65753335	0.213000	0.23551	0.000000	0.03702	0.594000	0.36715	0.632000	0.24583	-1.168000	0.02776	0.459000	0.35465	AAA		0.637	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			3	6	0	0	0	1	0	3	6				
SCYL1	57410	broad.mit.edu	37	11	65303494	65303494	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65303494C>T	ENST00000270176.5	+	11	1534	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000524944.1_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1456-1458)gCg>gTg		SCY1-like 1 (S. cerevisiae)							76.0	77.0	77.0					11																	65303494		1911	4117	6028	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303494C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1457C>T	11.37:g.65303494C>T	ENSP00000270176:p.Ala486Val					SCYL1_ENST00000270176.5_Missense_Mutation_p.A486V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000527630.1_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V	p.A486V			Q96KG9	NTKL_HUMAN			11	1490	+			486					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1457C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551191	0.96501	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.118682	0.56097	D	0.000032	T	0.67906	0.2943	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.987;0.999;0.999;0.998;0.995	T	0.74805	-0.3540	10	0.72032	D	0.01	-11.0911	16.7806	0.85562	0.0:1.0:0.0:0.0	.	486;486;486;486;486	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	V	486;486;486;486;486;486;486;486;343	ENSP00000270176:A486V;ENSP00000431635:A486V;ENSP00000408192:A486V;ENSP00000437254:A486V;ENSP00000433450:A486V;ENSP00000279270:A486V;ENSP00000432175:A486V;ENSP00000436993:A343V	ENSP00000270176:A486V	A	+	2	0	SCYL1	65060070	1.000000	0.71417	0.985000	0.45067	0.871000	0.50021	6.864000	0.75494	2.577000	0.86979	0.462000	0.41574	GCG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		11	43	0	0	0	1	0	11	43				
MAN2C1	4123	broad.mit.edu	37	15	75648457	75648457	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75648457G>A	ENST00000267978.5	-	25	3036	c.2990C>T	c.(2989-2991)gCc>gTc	p.A997V	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974V|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A1014V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGGATGGCCTCCTGAAC	0.672																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(3040-3042)gCc>gTc		mannosidase, alpha, class 2C, member 1							28.0	33.0	31.0					15																	75648457		2197	4291	6488	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648457G>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2990C>T	15.37:g.75648457G>A	ENSP00000267978:p.Ala997Val					MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A997V	p.A1014V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			25	3052	-			997					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.3041C>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188521	0.09547	.	.	ENSG00000140400	ENST00000267978	T	0.77489	-1.1	5.07	5.07	0.68467	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.056682	0.64402	D	0.000001	T	0.53270	0.1786	N	0.11131	0.1	0.48901	D	0.999721	B;B	0.26577	0.153;0.033	B;B	0.20577	0.03;0.03	T	0.54316	-0.8312	10	0.02654	T	1	-19.6781	10.6349	0.45558	0.0894:0.0:0.9106:0.0	.	974;997	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	V	997	ENSP00000267978:A997V	ENSP00000267978:A997V	A	-	2	0	MAN2C1	73435510	1.000000	0.71417	0.923000	0.36655	0.615000	0.37417	6.314000	0.72848	2.376000	0.81061	0.462000	0.41574	GCC		0.672	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			11	6	0	0	0	1	0	11	6				
GAS7	8522	broad.mit.edu	37	17	9830018	9830018	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9830018G>A	ENST00000432992.2	-	10	1114	c.954C>T	c.(952-954)tgC>tgT	p.C318C	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Silent_p.C254C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.C258C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000323816.4_Silent_p.C258C|GAS7_ENST00000579158.1_Silent_p.C254C	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Nonsense(2)	p.C178*(1)|p.C318*(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(772-774)tgC>tgT		growth arrest-specific 7							93.0	87.0	89.0					17																	9830018		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9830018G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.954C>T	17.37:g.9830018G>A						GAS7_ENST00000542249.1_Silent_p.C263C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000579158.1_Silent_p.C270C|GAS7_ENST00000585266.1_Silent_p.C254C|GAS7_ENST00000432992.2_Silent_p.C318C|GAS7_ENST00000323816.4_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	p.C258C	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			10	1084	-			318			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.774C>T	CCDS11152.1																																																																																				0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		18	22	0	0	0	1	0	18	22				
MAGEC2	51438	broad.mit.edu	37	X	141291203	141291203	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:141291203G>A	ENST00000247452.3	-	3	918	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	191	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAAGAAGCTCCATGAAC	0.488										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(571-573)Ctt>Ttt		melanoma antigen family C, 2							135.0	130.0	131.0					X																	141291203		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291203G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.571C>T	X.37:g.141291203G>A	ENSP00000354660:p.Leu191Phe	HNSCC(46;0.14)					p.L191F	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	918	-	Acute lymphoblastic leukemia(192;6.56e-05)		191			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.571C>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	11.52	1.662367	0.29515	.	.	ENSG00000046774	ENST00000247452	T	0.05199	3.48	0.988	-0.0892	0.13670	.	0.253468	0.31922	U	0.006848	T	0.21062	0.0507	M	0.86573	2.825	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04128	-1.0975	10	0.72032	D	0.01	.	4.457	0.11647	0.0:0.4202:0.5798:0.0	.	191	Q9UBF1	MAGC2_HUMAN	F	191	ENSP00000354660:L191F	ENSP00000354660:L191F	L	-	1	0	MAGEC2	141118869	0.717000	0.27966	0.005000	0.12908	0.201000	0.24016	0.974000	0.29436	-0.088000	0.12506	0.284000	0.19432	CTT		0.488	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		30	35	0	0	0	1	0	30	35				
LRG1	116844	broad.mit.edu	37	19	4538169	4538169	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4538169G>A	ENST00000306390.6	-	2	1287	c.827C>T	c.(826-828)cCc>cTc	p.P276L	LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000586133.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	276					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCCCTCGGGCACGCTGGC	0.642																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(826-828)cCc>cTc		leucine-rich alpha-2-glycoprotein 1							74.0	72.0	73.0					19																	4538169		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538169G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.827C>T	19.37:g.4538169G>A	ENSP00000302621:p.Pro276Leu					CTB-50L17.14_ENST00000586020.1_Intron	p.P276L	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1287	-		Hepatocellular(1079;0.137)	276					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.827C>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	34	5.386298	0.95967	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02472	4.28	5.24	4.2	0.49525	.	0.000000	0.40469	N	0.001098	T	0.18800	0.0451	M	0.93808	3.46	0.39491	D	0.968042	D	0.89917	1.0	D	0.79108	0.992	T	0.01951	-1.1241	10	0.59425	D	0.04	-44.366	9.5181	0.39117	0.0957:0.0:0.9043:0.0	.	276	P02750	A2GL_HUMAN	L	276;259	ENSP00000302621:P276L	ENSP00000302621:P276L	P	-	2	0	LRG1	4489169	1.000000	0.71417	0.028000	0.17463	0.846000	0.48090	5.330000	0.65899	1.435000	0.47434	0.655000	0.94253	CCC		0.642	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		30	42	0	0	0	1	0	30	42				
ASPRV1	151516	broad.mit.edu	37	2	70187991	70187991	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70187991G>A	ENST00000320256.4	-	1	1406	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CTCGGCACTCGCATTGGCCAC	0.537																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(829-831)gCg>gTg		aspartic peptidase, retroviral-like 1							125.0	108.0	114.0					2																	70187991		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187991G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.830C>T	2.37:g.70187991G>A	ENSP00000315383:p.Ala277Val						p.A277V	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1406	-			277			Peptidase A2.			Missense_Mutation	SNP	ENST00000320256.4	37	c.830C>T	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183872	0.57800	.	.	ENSG00000244617	ENST00000320256	T	0.47869	0.83	5.09	5.09	0.68999	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.165910	0.27811	N	0.017756	T	0.51109	0.1655	N	0.14661	0.345	0.23204	N	0.998121	D	0.89917	1.0	D	0.91635	0.999	T	0.47355	-0.9124	10	0.51188	T	0.08	-11.2844	13.8664	0.63592	0.0:0.0:1.0:0.0	.	277	Q53RT3	APRV1_HUMAN	V	277	ENSP00000315383:A277V	ENSP00000315383:A277V	A	-	2	0	ASPRV1	70041495	0.723000	0.28027	0.160000	0.22671	0.552000	0.35366	3.180000	0.50895	2.646000	0.89796	0.655000	0.94253	GCG		0.537	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		22	41	0	0	0	1	0	22	41				
ZNF30	90075	broad.mit.edu	37	19	35434553	35434553	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35434553G>A	ENST00000601142.1	+	5	920	c.683G>A	c.(682-684)gGg>gAg	p.G228E	ZNF30_ENST00000439785.1_Missense_Mutation_p.G229E|ZNF30_ENST00000303586.7_Missense_Mutation_p.G229E|ZNF30_ENST00000426813.2_Missense_Mutation_p.G147E|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATTCATACTGGGAAGAAACCA	0.428																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(685-687)gGg>gAg		zinc finger protein 30							39.0	44.0	42.0					19																	35434553		2040	4194	6234	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434553G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.683G>A	19.37:g.35434553G>A	ENSP00000469954:p.Gly228Glu					ZNF30_ENST00000601142.1_Missense_Mutation_p.G228E|ZNF30_ENST00000426813.2_Missense_Mutation_p.G147E|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.G229E	p.G229E	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1130	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		228					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.686G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820843	0.50633	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.25749	1.78;1.78	2.12	-0.704	0.11256	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26882	0.0658	L	0.33624	1.015	0.24512	N	0.994206	D;P	0.61080	0.989;0.863	P;P	0.55545	0.778;0.725	T	0.15780	-1.0425	9	0.72032	D	0.01	.	5.3707	0.16138	0.0:0.2242:0.5465:0.2292	.	229;228	P17039-2;P17039	.;ZNF30_HUMAN	E	229;228;147	ENSP00000403441:G229E;ENSP00000416457:G147E	ENSP00000303889:G228E	G	+	2	0	ZNF30	40126393	0.386000	0.25180	0.001000	0.08648	0.073000	0.16967	1.097000	0.30988	-0.228000	0.09869	0.404000	0.27445	GGG		0.428	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		5	19	0	0	0	1	0	5	19				
MTCL1	23255	broad.mit.edu	37	18	8784384	8784384	+	Missense_Mutation	SNP	C	C	T	rs367871130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8784384C>T	ENST00000306329.11	+	5	2354	c.2354C>T	c.(2353-2355)aCg>aTg	p.T785M	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.T425M|SOGA2_ENST00000359865.3_Missense_Mutation_p.T425M|SOGA2_ENST00000517570.1_Missense_Mutation_p.T425M																							TTTGAGAAGACGTCGGGCTTC	0.637																																						ENST00000359865.3																			0											c.(1273-1275)aCg>aTg		SOGA family member 2		C	MET/THR	0,4406		0,0,2203	58.0	71.0	66.0		1274	4.5	0.9	18		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC165	NM_015210.3	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	425/1587	8784384	1,13003	2203	4299	6502	SO:0001583	missense	23255							g.chr18:8784384C>T																												ENST00000306329.11:c.2354C>T	18.37:g.8784384C>T	ENSP00000305027:p.Thr785Met					SOGA2_ENST00000400050.3_Missense_Mutation_p.T425M|SOGA2_ENST00000306329.11_Missense_Mutation_p.T785M|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.T425M	p.T425M	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1416	+			776						Missense_Mutation	SNP	ENST00000306329.11	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	C	6.841	0.524462	0.13066	0.0	1.16E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.35236	1.32;1.32;1.32	5.43	4.54	0.55810	.	0.145076	0.32258	N	0.006358	T	0.60547	0.2277	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.958;0.981	T	0.64141	-0.6477	10	0.48119	T	0.1	-8.9754	15.3645	0.74510	0.1406:0.8594:0.0:0.0	.	446;425	A8MQ54;Q9Y4B5-3	.;.	M	446;425;425;425	ENSP00000429556:T425M;ENSP00000352927:T425M;ENSP00000382924:T425M	ENSP00000305027:T446M	T	+	2	0	CCDC165	8774384	1.000000	0.71417	0.885000	0.34714	0.351000	0.29236	4.594000	0.61041	1.235000	0.43724	0.591000	0.81541	ACG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			19	28	0	0	0	1	0	19	28				
LUZP1	7798	broad.mit.edu	37	1	23417973	23417973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23417973G>A	ENST00000302291.4	-	4	3583	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R928*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R928*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R928*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R928*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAAGTCTCGCCTACTCTTC	0.493																																						ENST00000302291.4																			1	Substitution - Nonsense(1)	p.R928*(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2782-2784)Cga>Tga		leucine zipper protein 1							107.0	107.0	107.0					1																	23417973		2203	4300	6503	SO:0001587	stop_gained	7798					nucleus		g.chr1:23417973G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2782C>T	1.37:g.23417973G>A	ENSP00000303758:p.Arg928*					LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R928*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R928*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R928*	p.R928*			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3583	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	928					Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	ENST00000302291.4	37	c.2782C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	40	7.936392	0.98571	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	.	.	.	5.08	2.08	0.27032	.	0.178937	0.27039	N	0.021226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.851	0.13537	0.1795:0.0:0.6428:0.1777	.	.	.	.	X	928	.	ENSP00000303758:R928X	R	-	1	2	LUZP1	23290560	0.996000	0.38824	0.993000	0.49108	0.863000	0.49368	2.164000	0.42387	0.512000	0.28257	0.485000	0.47835	CGA		0.493	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		58	93	0	0	0	1	0	58	93				
HSPA2	3306	broad.mit.edu	37	14	65008446	65008446	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65008446C>T	ENST00000394709.1	+	2	955	c.879C>T	c.(877-879)ggC>ggT	p.G293G	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Silent_p.G293G			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	293					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCTACGAGGGCGTGGACTTCT	0.687																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(877-879)ggC>ggT		heat shock 70kDa protein 2							20.0	20.0	20.0					14																	65008446		2203	4298	6501	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008446C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.879C>T	14.37:g.65008446C>T						HSPA2_ENST00000394709.1_Silent_p.G293G	p.G293G	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1261	+			293					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.879C>T	CCDS9766.1																																																																																				0.687	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			7	9	0	0	0	1	0	7	9				
MFSD6	54842	broad.mit.edu	37	2	191302025	191302025	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191302025C>T	ENST00000392328.1	+	3	1594	c.1270C>T	c.(1270-1272)Cca>Tca	p.P424S	MFSD6_ENST00000281416.7_Missense_Mutation_p.P424S	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	424					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGAGGAGACACCAACCACCAC	0.498																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1270-1272)Cca>Tca		major facilitator superfamily domain containing 6							124.0	105.0	111.0					2																	191302025		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191302025C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1270C>T	2.37:g.191302025C>T	ENSP00000376141:p.Pro424Ser					MFSD6_ENST00000281416.7_Missense_Mutation_p.P424S	p.P424S	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1594	+			424					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1270C>T	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252940	0.39797	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.33654	1.4;1.4	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);	0.181585	0.49305	D	0.000153	T	0.30039	0.0752	L	0.27053	0.805	0.80722	D	1	B	0.23316	0.083	B	0.15052	0.012	T	0.03034	-1.1080	10	0.45353	T	0.12	-17.5393	18.8715	0.92317	0.0:1.0:0.0:0.0	.	424	Q6ZSS7	MFSD6_HUMAN	S	424	ENSP00000376141:P424S;ENSP00000281416:P424S	ENSP00000281416:P424S	P	+	1	0	MFSD6	191010270	0.993000	0.37304	0.249000	0.24280	0.282000	0.26991	3.278000	0.51662	2.937000	0.99478	0.650000	0.86243	CCA		0.498	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			23	26	0	0	0	1	0	23	26				
ZNF547	284306	broad.mit.edu	37	19	57883175	57883175	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57883175C>T	ENST00000282282.3	+	3	200	c.50C>T	c.(49-51)gCc>gTc	p.A17V	AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	17	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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGACGTGGCCATATATTTC	0.428																																						ENST00000282282.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12						c.(49-51)gCc>gTc		zinc finger protein 547							287.0	268.0	275.0					19																	57883175		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883175C>T	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.50C>T	19.37:g.57883175C>T	ENSP00000282282:p.Ala17Val					AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17V	p.A17V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	200	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	17			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.50C>T	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111660	0.56398	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.03301	3.98	2.01	2.01	0.26516	Krueppel-associated box (4);	.	.	.	.	T	0.16257	0.0391	M	0.82517	2.595	0.09310	N	0.999994	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.02313	-1.1178	9	0.62326	D	0.03	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	17;17	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	V	17	ENSP00000282282:A17V	ENSP00000282282:A17V	A	+	2	0	ZNF547	62574987	0.789000	0.28775	0.383000	0.26132	0.984000	0.73092	1.123000	0.31308	1.438000	0.47492	0.561000	0.74099	GCC		0.428	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		73	112	0	0	0	1	0	73	112				
SEPT4	5414	broad.mit.edu	37	17	56602475	56602475	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56602475G>A	ENST00000317268.3	-	5	802	c.626C>T	c.(625-627)aCa>aTa	p.T209I	SEPT4_ENST00000580809.1_Missense_Mutation_p.T91I|SEPT4_ENST00000393086.1_Missense_Mutation_p.T190I|SEPT4_ENST00000580844.1_Missense_Mutation_p.T110I|SEPT4_ENST00000579371.1_Missense_Mutation_p.T110I|SEPT4_ENST00000457347.2_Missense_Mutation_p.T224I|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.T201I|SEPT4_ENST00000426861.1_Missense_Mutation_p.T190I|SEPT4_ENST00000583114.1_Missense_Mutation_p.T62I|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.T190I	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	209	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAAACCTGGTGTGTCCACAAT	0.522																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(568-570)aCa>aTa		septin 4							339.0	266.0	291.0					17																	56602475		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56602475G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.626C>T	17.37:g.56602475G>A	ENSP00000321674:p.Thr209Ile					SEPT4_ENST00000317268.3_Missense_Mutation_p.T209I|SEPT4_ENST00000583114.1_Missense_Mutation_p.T62I|SEPT4_ENST00000580809.1_Missense_Mutation_p.T91I|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.T224I|SEPT4_ENST00000579371.1_Missense_Mutation_p.T110I|SEPT4_ENST00000317256.6_Missense_Mutation_p.T190I|SEPT4_ENST00000393086.1_Missense_Mutation_p.T190I|SEPT4_ENST00000412945.3_Missense_Mutation_p.T201I|SEPT4_ENST00000580844.1_Missense_Mutation_p.T110I	p.T190I	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			5	655	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		209					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.569C>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350360	0.41599	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.09	5.09	0.68999	.	0.058283	0.64402	D	0.000002	T	0.80849	0.4702	H	0.95470	3.675	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999;0.99;0.999	D;D;D;D;D;D;D	0.97110	0.997;0.982;1.0;0.987;0.993;0.986;0.996	D	0.86704	0.1931	10	0.87932	D	0	.	16.343	0.83101	0.0:0.0:1.0:0.0	.	201;224;62;190;190;62;209	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	I	201;223;190;209;190;190	ENSP00000414779:T201I;ENSP00000321071:T190I;ENSP00000321674:T209I;ENSP00000376801:T190I;ENSP00000402348:T190I	ENSP00000321071:T190I	T	-	2	0	SEPT4	53957474	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.772000	0.98984	2.521000	0.84997	0.650000	0.86243	ACA		0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		4	144	0	0	0	1	0	4	144				
GRPR	2925	broad.mit.edu	37	X	16170625	16170625	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:16170625C>T	ENST00000380289.2	+	3	1410	c.1012C>T	c.(1012-1014)Ctc>Ttc	p.L338F	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	338					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACTCAGCTGCTCTGTTGCCA	0.572																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(1012-1014)Ctc>Ttc		gastrin-releasing peptide receptor							147.0	119.0	128.0					X																	16170625		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170625C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1012C>T	X.37:g.16170625C>T	ENSP00000369643:p.Leu338Phe						p.L338F	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1410	+	Hepatocellular(33;0.183)		338					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.1012C>T	CCDS14174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.667|1.667	-0.509981|-0.509981	0.04231|0.04231	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000535371|ENST00000380289	.|T	.|0.38077	.|1.16	5.47|5.47	3.37|3.37	0.38596|0.38596	.|.	.|0.573768	.|0.18563	.|N	.|0.137557	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00500|0.00500	-1.43|-1.43	0.31034|0.31034	N|N	0.71713|0.71713	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.19418|0.19418	-1.0306|-1.0306	6|10	0.17832|0.09843	T|T	0.49|0.71	-22.2768|-22.2768	3.4143|3.4143	0.07369|0.07369	0.2137:0.5136:0.0:0.2727|0.2137:0.5136:0.0:0.2727	.|.	.|338	.|P30550	.|GRPR_HUMAN	V|F	126|338	.|ENSP00000369643:L338F	ENSP00000442239:A126V|ENSP00000369643:L338F	A|L	+|+	2|1	0|0	GRPR|GRPR	16080546|16080546	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.897000|0.897000	0.52465|0.52465	1.372000|1.372000	0.34261|0.34261	1.024000|1.024000	0.39682|0.39682	0.600000|0.600000	0.82982|0.82982	GCT|CTC		0.572	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		40	12	0	0	0	1	0	40	12				
RPL7A	6130	broad.mit.edu	37	9	136216453	136216453	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136216453C>T	ENST00000323345.6	+	3	202	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.A2V|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000344469.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGTGAAATGGCCCCGCTATAT	0.537																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(172-174)Ccc>Tcc		ribosomal protein L7a							51.0	54.0	53.0					9																	136216453		2203	4297	6500	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136216453C>T	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.172C>T	9.37:g.136216453C>T	ENSP00000361076:p.Pro58Ser					RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.A2V	p.P58S	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	3	202	+			58					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.172C>T	CCDS6965.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.961224|2.961224	0.53400|0.53400	.|.	.|.	ENSG00000148303|ENSG00000148303	ENST00000315731|ENST00000323345;ENST00000426651	T|T;T	0.64085|0.68903	-0.08|-0.36;-0.17	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81039|0.81039	0.4740|0.4740	M|M	0.92970|0.92970	3.365|3.365	0.30526|0.30526	N|N	0.767913|0.767913	.|D	.|0.53151	.|0.958	.|P	.|0.52514	.|0.701	D|D	0.84323|0.84323	0.0517|0.0517	7|10	0.59425|0.72032	D|D	0.04|0.01	.|.	15.1827|15.1827	0.72972|0.72972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58	.|P62424	.|RL7A_HUMAN	V|S	2|58;85	ENSP00000361071:A2V|ENSP00000361076:P58S;ENSP00000416638:P85S	ENSP00000361071:A2V|ENSP00000361076:P58S	A|P	+|+	2|1	0|0	RPL7A|RPL7A	135206274|135206274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	6.980000|6.980000	0.76160|0.76160	1.816000|1.816000	0.52996|0.52996	0.313000|0.313000	0.20887|0.20887	GCC|CCC		0.537	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		12	51	0	0	0	1	0	12	51				
VPS13D	55187	broad.mit.edu	37	1	12389963	12389963	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12389963C>T	ENST00000358136.3	+	37	8405	c.8275C>T	c.(8275-8277)Cgt>Tgt	p.R2759C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2759C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATTATAACCGTGCTCTTTC	0.368																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8275-8277)Cgt>Tgt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							96.0	86.0	90.0					1																	12389963		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12389963C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8275C>T	1.37:g.12389963C>T	ENSP00000350854:p.Arg2759Cys					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2759C	p.R2759C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	37	8405	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2759						Missense_Mutation	SNP	ENST00000358136.3	37	c.8275C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245482	0.80024	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50277	0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.935;0.973	T	0.73726	-0.3892	10	0.52906	T	0.07	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	666;2759;2759	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	C	2759	ENSP00000348666:R2759C;ENSP00000350854:R2759C	ENSP00000348666:R2759C	R	+	1	0	VPS13D	12312550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.308000	0.51896	2.880000	0.98712	0.650000	0.86243	CGT		0.368	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		15	41	0	0	0	1	0	15	41				
ABCA7	10347	broad.mit.edu	37	19	1042344	1042344	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1042344T>C	ENST00000263094.6	+	6	677	c.446T>C	c.(445-447)cTg>cCg	p.L149P	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.L149P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	149					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTCTCCACTGGAACCACCC	0.677																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(445-447)cTg>cCg		ATP-binding cassette, sub-family A (ABC1), member 7							77.0	73.0	75.0					19																	1042344		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042344T>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.446T>C	19.37:g.1042344T>C	ENSP00000263094:p.Leu149Pro					ABCA7_ENST00000433129.1_Missense_Mutation_p.L149P	p.L149P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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)	6	677	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	149					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.446T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	5.483	0.274171	0.10403	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000433129	D;D;D	0.98747	-2.19;-5.11;-2.19	3.03	-0.68	0.11346	.	.	.	.	.	D	0.91643	0.7359	N	0.08118	0	0.09310	N	1	P;B	0.35982	0.531;0.261	B;B	0.28709	0.093;0.047	D	0.89084	0.3478	9	0.30078	T	0.28	.	0.5832	0.00715	0.4564:0.2044:0.1295:0.2097	.	149;149	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	P	149	ENSP00000263094:L149P;ENSP00000431473:L149P;ENSP00000414062:L149P	ENSP00000263094:L149P	L	+	2	0	ABCA7	993344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.234000	0.09782	-0.651000	0.03910	CTG		0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	50	0	0	0	1	0	9	50				
ZNF548	147694	broad.mit.edu	37	19	57910579	57910579	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57910579G>A	ENST00000366197.5	+	3	1174	c.924G>A	c.(922-924)ccG>ccA	p.P308P	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.P320P|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAAAGGCCGTATGAGTGCA	0.443																																						ENST00000366197.5																			0				breast(1)	1						c.(922-924)ccG>ccA		zinc finger protein 548							75.0	78.0	77.0					19																	57910579		2198	4299	6497	SO:0001819	synonymous_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910579G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.924G>A	19.37:g.57910579G>A						AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.P320P	p.P308P	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1174	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	308					Q96M05	Silent	SNP	ENST00000366197.5	37	c.924G>A	CCDS46209.1																																																																																				0.443	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		22	37	0	0	0	1	0	22	37				
HAT1	8520	broad.mit.edu	37	2	172822331	172822331	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:172822331T>C	ENST00000264108.4	+	6	549	c.513T>C	c.(511-513)ttT>ttC	p.F171F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F86F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	171					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTAGAGGCTTTCGAGAATATC	0.403																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(511-513)ttT>ttC		histone acetyltransferase 1							205.0	197.0	199.0					2																	172822331		2203	4300	6503	SO:0001819	synonymous_variant	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822331T>C	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.513T>C	2.37:g.172822331T>C						HAT1_ENST00000392584.1_Silent_p.F86F|SLC25A12_ENST00000472748.1_Intron	p.F171F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		6	549	+			171					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	c.513T>C	CCDS2245.1																																																																																				0.403	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		21	173	0	0	0	1	0	21	173				
DOHH	83475	broad.mit.edu	37	19	3494035	3494035	+	Silent	SNP	G	G	A	rs11551227		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3494035G>A	ENST00000427575.1	-	3	793	c.342C>T	c.(340-342)ccC>ccT	p.P114P	DOHH_ENST00000250937.3_Silent_p.P114P	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGATGACGGGGTCCGAGG	0.657																																						ENST00000427575.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(340-342)ccC>ccT		deoxyhypusine hydroxylase/monooxygenase							56.0	50.0	52.0					19																	3494035		2203	4300	6503	SO:0001819	synonymous_variant	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3494035G>A	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.342C>T	19.37:g.3494035G>A						DOHH_ENST00000250937.3_Silent_p.P114P	p.P114P	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	793	-			114						Silent	SNP	ENST00000427575.1	37	c.342C>T	CCDS12108.1																																																																																				0.657	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		4	7	0	0	0	1	0	4	7				
CNR1	1268	broad.mit.edu	37	6	88853613	88853613	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88853613T>C	ENST00000537554.1	-	2	4943	c.1381A>G	c.(1381-1383)Atg>Gtg	p.M461V	CNR1_ENST00000428600.2_Missense_Mutation_p.M461V|CNR1_ENST00000549716.1_Missense_Mutation_p.M400V|CNR1_ENST00000468898.1_Missense_Mutation_p.M428V|CNR1_ENST00000535130.1_Missense_Mutation_p.M461V|CNR1_ENST00000369501.2_Missense_Mutation_p.M461V|CNR1_ENST00000549890.1_Missense_Mutation_p.M461V|CNR1_ENST00000369499.2_Missense_Mutation_p.M461V|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	461					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GACACAGACATGGTTACCTTG	0.507																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1381-1383)Atg>Gtg		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						206.0	192.0	197.0					6																	88853613		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853613T>C	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1381A>G	6.37:g.88853613T>C	ENSP00000441046:p.Met461Val					CNR1_ENST00000468898.1_Missense_Mutation_p.M428V|CNR1_ENST00000428600.2_Missense_Mutation_p.M461V|CNR1_ENST00000549890.1_Missense_Mutation_p.M461V|CNR1_ENST00000369499.2_Missense_Mutation_p.M461V|CNR1_ENST00000369501.2_Missense_Mutation_p.M461V|CNR1_ENST00000549716.1_Missense_Mutation_p.M400V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.M461V	p.M461V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4943	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	461					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1381A>G	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	T	8.621	0.891463	0.17613	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.74106	-0.71;-0.71;-0.71;-0.71;-0.71;-0.81;-0.71;-0.66	5.94	5.94	0.96194	.	0.035510	0.85682	D	0.000000	T	0.38746	0.1052	N	0.17082	0.46	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.06405	0.002;0.002	T	0.44159	-0.9346	10	0.02654	T	1	.	16.3932	0.83546	0.0:0.0:0.0:1.0	.	428;461	P21554-3;P21554	.;CNR1_HUMAN	V	461;461;461;461;461;428;461;400	ENSP00000358513:M461V;ENSP00000442689:M461V;ENSP00000441046:M461V;ENSP00000358511:M461V;ENSP00000446819:M461V;ENSP00000420188:M428V;ENSP00000412192:M461V;ENSP00000449549:M400V	ENSP00000358511:M461V	M	-	1	0	CNR1	88910332	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.694000	0.84235	2.267000	0.75376	0.533000	0.62120	ATG		0.507	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			58	86	0	0	0	1	0	58	86				
GCN1L1	10985	broad.mit.edu	37	12	120613962	120613962	+	Silent	SNP	G	G	A	rs199525450		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120613962G>A	ENST00000300648.6	-	10	909	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	299					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCTTTCACGATGTCCATGG	0.512																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(895-897)atC>atT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							104.0	104.0	104.0					12																	120613962		2013	4189	6202	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120613962G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.897C>T	12.37:g.120613962G>A							p.I299I	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			10	909	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		299					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.897C>T	CCDS41847.1																																																																																				0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			19	32	0	0	0	1	0	19	32				
ADAMTS1	9510	broad.mit.edu	37	21	28214308	28214308	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:28214308T>C	ENST00000284984.3	-	3	1533	c.1079A>G	c.(1078-1080)gAc>gGc	p.D360G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCACACAAGTCCTACAAAAA	0.448																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.e3-1		ADAM metallopeptidase with thrombospondin type 1 motif, 1							69.0	62.0	64.0					21																	28214308		2203	4300	6503	SO:0001630	splice_region_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214308T>C	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1078-1A>G	21.37:g.28214308T>C							p.D360_splice	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	3	1533	-		Breast(209;0.000962)	360			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Splice_Site	SNP	ENST00000284984.3	37	c.1077_splice	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.500789|3.500789	0.64298|0.64298	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452|ENST00000451462	D;D;D|.	0.89875|.	-2.58;-2.58;-2.58|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);|.	.|.	.|.	.|.	.|.	T|T	0.77294|0.77294	0.4109|0.4109	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P|.	0.38473|.	0.633|.	P|.	0.49683|.	0.619|.	T|T	0.78568|0.78568	-0.2154|-0.2154	9|5	0.87932|.	D|.	0|.	.|.	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	360|.	Q9UHI8|.	ATS1_HUMAN|.	G|A	360;98;122|142	ENSP00000284984:D360G;ENSP00000429557:D98G;ENSP00000431065:D122G|.	ENSP00000284984:D360G|.	D|T	-|-	2|1	0|0	ADAMTS1|ADAMTS1	27136179|27136179	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.779000|0.779000	0.44077|0.44077	7.868000|7.868000	0.87116|0.87116	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		Missense_Mutation	21	7	0	0	0	1	0	21	7				
C10orf11	83938	broad.mit.edu	37	10	77542742	77542742	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:77542742G>T	ENST00000372499.1	+	1	224	c.9G>T	c.(7-9)aaG>aaT	p.K3N	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	3					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GAATGGAAAAGTATTTGTCAC	0.418																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(7-9)aaG>aaT		chromosome 10 open reading frame 11							104.0	92.0	96.0					10																	77542742		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77542742G>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.9G>T	10.37:g.77542742G>T	ENSP00000361577:p.Lys3Asn					C10orf11_ENST00000593699.1_Intron	p.K3N	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			1	224	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		3					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.9G>T	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001972	0.54254	.	.	ENSG00000148655	ENST00000372499	T	0.25912	1.77	5.56	5.56	0.83823	.	.	.	.	.	T	0.56645	0.1999	M	0.81942	2.565	0.41375	D	0.987513	D	0.89917	1.0	D	0.85130	0.997	T	0.60949	-0.7161	9	0.72032	D	0.01	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	3	Q9H2I8	CJ011_HUMAN	N	3	ENSP00000361577:K3N	ENSP00000361577:K3N	K	+	3	2	C10orf11	77212748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.726000	0.91474	2.616000	0.88540	0.563000	0.77884	AAG		0.418	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		23	52	1	0	6.44725e-10	1	6.8705e-10	23	52				
GRIN2C	2905	broad.mit.edu	37	17	72843504	72843504	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72843504G>A	ENST00000293190.5	-	9	2090	c.1944C>T	c.(1942-1944)gcC>gcT	p.A648A	GRIN2C_ENST00000347612.4_Silent_p.A648A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	648					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATGAAGGCGGCCAGGTTGG	0.607																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1942-1944)gcC>gcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						126.0	114.0	118.0					17																	72843504		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843504G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1944C>T	17.37:g.72843504G>A						GRIN2C_ENST00000347612.4_Silent_p.A648A	p.A648A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	2090	-	all_lung(278;0.172)|Lung NSC(278;0.207)		648					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1944C>T	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			36	61	0	0	0	1	0	36	61				
CMKLR1	1240	broad.mit.edu	37	12	108685777	108685777	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108685777C>A	ENST00000312143.7	-	3	1326	c.963G>T	c.(961-963)caG>caT	p.Q321H	CMKLR1_ENST00000412676.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.Q319H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.Q319H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.Q321H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	321					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTTGAAGTCCTGACCCATGA	0.532																																						ENST00000397688.2																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(955-957)caG>caT		chemokine-like receptor 1							85.0	86.0	86.0					12																	108685777		1974	4158	6132	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685777C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.963G>T	12.37:g.108685777C>A	ENSP00000311733:p.Gln321His					CMKLR1_ENST00000552995.1_Missense_Mutation_p.Q319H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.Q321H|CMKLR1_ENST00000312143.7_Missense_Mutation_p.Q321H	p.Q319H	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN			3	1326	-			321					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.957G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	10.45	1.353310	0.24512	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.36	3.49	0.39957	.	0.282245	0.34802	N	0.003667	T	0.24236	0.0587	L	0.28192	0.835	0.34273	D	0.681268	B	0.12013	0.005	B	0.15484	0.013	T	0.22556	-1.0213	10	0.41790	T	0.15	.	9.4019	0.38437	0.0:0.7688:0.1516:0.0796	.	321	Q99788	CML1_HUMAN	H	321;321;319;319;321	ENSP00000311733:Q321H;ENSP00000401293:Q321H;ENSP00000380803:Q319H;ENSP00000447579:Q319H;ENSP00000449716:Q321H	ENSP00000311733:Q321H	Q	-	3	2	CMKLR1	107209907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.911000	0.28584	1.210000	0.43336	0.556000	0.70494	CAG		0.532	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			27	31	1	0	3.65163e-15	1	3.99483e-15	27	31				
TAF3	83860	broad.mit.edu	37	10	8006411	8006411	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:8006411G>A	ENST00000344293.5	+	3	1144	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	313					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAATCACCTGGACGTTccaag	0.502																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(937-939)gGa>gAa		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							45.0	46.0	46.0					10																	8006411		1878	4091	5969	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006411G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.938G>A	10.37:g.8006411G>A	ENSP00000340271:p.Gly313Glu						p.G313E	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1144	+			313					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.938G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796336	0.70567	.	.	ENSG00000165632	ENST00000344293	T	0.21932	1.98	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	T	0.46347	0.1388	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.37291	-0.9712	10	0.09338	T	0.73	-26.9594	19.5287	0.95219	0.0:0.0:1.0:0.0	.	313	Q5VWG9	TAF3_HUMAN	E	313	ENSP00000340271:G313E	ENSP00000340271:G313E	G	+	2	0	TAF3	8046417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.330000	0.79181	2.627000	0.88993	0.655000	0.94253	GGA		0.502	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		10	13	0	0	0	1	0	10	13				
OR6Q1	219952	broad.mit.edu	37	11	57798998	57798998	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57798998T>C	ENST00000302622.3	+	1	597	c.574T>C	c.(574-576)Tcg>Ccg	p.S192P	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCTAGCCTTGTCGTGCTCAGA	0.493																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)Tcg>Ccg		olfactory receptor, family 6, subfamily Q, member 1							256.0	225.0	235.0					11																	57798998		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798998T>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.574T>C	11.37:g.57798998T>C	ENSP00000307734:p.Ser192Pro					OR9Q1_ENST00000335397.3_Intron	p.S192P	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	597	+		Breast(21;0.0707)|all_epithelial(135;0.142)	192					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.574T>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105583	0.56291	.	.	ENSG00000172381	ENST00000302622	T	0.00301	8.21	5.0	0.96	0.19631	GPCR, rhodopsin-like superfamily (1);	0.211899	0.23879	N	0.043680	T	0.00998	0.0033	H	0.96889	3.9	0.20873	N	0.999838	D	0.71674	0.998	D	0.76575	0.988	T	0.15065	-1.0450	10	0.87932	D	0	.	11.5935	0.50959	0.0:0.0:0.4335:0.5665	.	192	Q8NGQ2	OR6Q1_HUMAN	P	192	ENSP00000307734:S192P	ENSP00000307734:S192P	S	+	1	0	OR6Q1	57555574	0.000000	0.05858	0.961000	0.40146	0.914000	0.54420	-0.210000	0.09345	0.229000	0.21039	0.519000	0.50382	TCG		0.493	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		8	80	0	0	0	1	0	8	80				
LYPD5	284348	broad.mit.edu	37	19	44301832	44301832	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44301832T>C	ENST00000377950.3	-	5	747	c.667A>G	c.(667-669)Acc>Gcc	p.T223A	LYPD5_ENST00000594013.1_Missense_Mutation_p.T180A|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Missense_Mutation_p.T180A	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	223						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GAAGCACTGGTGAAGGGCTGG	0.657																																						ENST00000377950.3																			0				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8						c.(667-669)Acc>Gcc		LY6/PLAUR domain containing 5							132.0	118.0	123.0					19																	44301832		2203	4300	6503	SO:0001583	missense	284348					anchored to membrane|plasma membrane		g.chr19:44301832T>C	AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.667A>G	19.37:g.44301832T>C	ENSP00000367185:p.Thr223Ala					LYPD5_ENST00000414615.2_Missense_Mutation_p.T180A|LYPD5_ENST00000594013.1_Missense_Mutation_p.T180A	p.T223A	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN			5	747	-		Prostate(69;0.0352)	223					Q6PEX9|Q96DR2	Missense_Mutation	SNP	ENST00000377950.3	37	c.667A>G	CCDS46096.1	.	.	.	.	.	.	.	.	.	.	T	7.288	0.610431	0.14066	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.23147	3.26;1.92	3.4	-0.279	0.12890	.	1.367370	0.05357	N	0.533049	T	0.16342	0.0393	L	0.27053	0.805	0.09310	N	1	B	0.19200	0.034	B	0.12156	0.007	T	0.26780	-1.0093	10	0.30078	T	0.28	-1.4734	4.0906	0.09968	0.0:0.2284:0.3941:0.3776	.	223	Q6UWN5	LYPD5_HUMAN	A	223;180	ENSP00000367185:T223A;ENSP00000408433:T180A	ENSP00000367185:T223A	T	-	1	0	LYPD5	48993672	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.209000	0.01228	-0.246000	0.09611	0.454000	0.30748	ACC		0.657	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1	NM_182573		10	19	0	0	0	1	0	10	19				
IL1RL2	8808	broad.mit.edu	37	2	102851496	102851496	+	Silent	SNP	C	C	T	rs35960329	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102851496C>T	ENST00000264257.2	+	11	1563	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	IL1RL2_ENST00000539491.1_Silent_p.D479D|IL1RL2_ENST00000441515.2_Silent_p.D361D|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	479	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.D479D(1)|p.D361D(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGATCCAGGACGGGATGAAGG	0.502													C|||	27	0.00539137	0.0015	0.0086	5008	,	,		20745	0.0		0.008	False		,,,				2504	0.0112					ENST00000264257.2																			2	Substitution - coding silent(2)	p.D479D(1)|p.D361D(1)	lung(2)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1435-1437)gaC>gaT		interleukin 1 receptor-like 2		C		17,4389	25.3+/-52.1	0,17,2186	147.0	129.0	135.0		1437	-10.4	0.2	2	dbSNP_126	135	158,8442	76.3+/-139.0	0,158,4142	no	coding-synonymous	IL1RL2	NM_003854.2		0,175,6328	TT,TC,CC		1.8372,0.3858,1.3455		479/576	102851496	175,12831	2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851496C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1437C>T	2.37:g.102851496C>T						IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.D479D|IL1RL2_ENST00000441515.2_Silent_p.D361D	p.D479D	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			11	1563	+			479			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.1437C>T	CCDS2056.1																																																																																				0.502	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		20	22	0	0	0	1	0	20	22				
IFI16	3428	broad.mit.edu	37	1	158984686	158984686	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158984686A>G	ENST00000295809.7	+	2	471	c.216A>G	c.(214-216)atA>atG	p.I72M	IFI16_ENST00000430894.2_Missense_Mutation_p.I76M|IFI16_ENST00000368131.4_Missense_Mutation_p.I72M|IFI16_ENST00000359709.3_Missense_Mutation_p.I72M|IFI16_ENST00000448393.2_Missense_Mutation_p.I72M|IFI16_ENST00000340979.6_Missense_Mutation_p.I72M|IFI16_ENST00000368132.3_Missense_Mutation_p.I72M			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	72	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCGAAGATATACCAACGCTTG	0.413																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(214-216)atA>atG		interferon, gamma-inducible protein 16							69.0	75.0	73.0					1																	158984686		2203	4298	6501	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984686A>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.216A>G	1.37:g.158984686A>G	ENSP00000295809:p.Ile72Met					IFI16_ENST00000448393.2_Missense_Mutation_p.I72M|IFI16_ENST00000430894.2_Missense_Mutation_p.I76M|IFI16_ENST00000368132.3_Missense_Mutation_p.I72M|IFI16_ENST00000368131.4_Missense_Mutation_p.I72M|IFI16_ENST00000340979.6_Missense_Mutation_p.I72M|IFI16_ENST00000359709.3_Missense_Mutation_p.I72M	p.I72M			Q16666	IF16_HUMAN			2	471	+	all_hematologic(112;0.0429)		72			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.216A>G		.	.	.	.	.	.	.	.	.	.	.	10.53	1.376367	0.24857	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	3.27	-6.47	0.01902	Pyrin (2);DEATH-like (1);	.	.	.	.	T	0.16128	0.0388	L	0.42245	1.32	0.09310	N	1	P;B;P	0.46395	0.877;0.22;0.877	P;B;P	0.48488	0.579;0.094;0.579	T	0.05937	-1.0855	9	0.22109	T	0.4	.	0.7226	0.00943	0.2271:0.1469:0.3189:0.3071	.	76;72;72	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	M	72;72;72;72;72;72;72;76	ENSP00000352740:I72M;ENSP00000406406:I72M;ENSP00000407052:I72M;ENSP00000295809:I72M;ENSP00000342741:I72M;ENSP00000357113:I72M;ENSP00000357114:I72M;ENSP00000394935:I76M	ENSP00000295809:I72M	I	+	3	3	IFI16	157251310	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.840000	0.01684	-1.452000	0.01931	0.454000	0.30748	ATA		0.413	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		27	48	0	0	0	1	0	27	48				
EIF4A1	1973	broad.mit.edu	37	17	7481551	7481551	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7481551C>T	ENST00000293831.8	+	10	1081	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N	CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000577269.1_Silent_p.L335L|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	355	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACAGGGAAAACTATATCCACA	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1063-1065)aaC>aaT		eukaryotic translation initiation factor 4A1							122.0	116.0	118.0					17																	7481551		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481551C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1065C>T	17.37:g.7481551C>T						SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Silent_p.L335L	p.N355N	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			10	1081	+			355			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1065C>T	CCDS11113.1																																																																																				0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		11	35	0	0	0	1	0	11	35				
ZNF763	284390	broad.mit.edu	37	19	12089533	12089533	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12089533T>C	ENST00000358987.3	+	4	921	c.794T>C	c.(793-795)tTc>tCc	p.F265S	ZNF763_ENST00000538752.1_Missense_Mutation_p.F285S|ZNF763_ENST00000545530.1_Missense_Mutation_p.F143S|ZNF763_ENST00000590798.1_Missense_Mutation_p.F285S|ZNF763_ENST00000343949.5_Missense_Mutation_p.F268S			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GGGAAAGCATTCCATAGTTCC	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(802-804)tTc>tCc		zinc finger protein 763							59.0	62.0	61.0					19																	12089533		2198	4299	6497	SO:0001583	missense	284390							g.chr19:12089533T>C	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.794T>C	19.37:g.12089533T>C	ENSP00000402017:p.Phe265Ser					ZNF763_ENST00000545530.1_Missense_Mutation_p.F143S|ZNF763_ENST00000358987.3_Missense_Mutation_p.F265S|ZNF763_ENST00000590798.1_Missense_Mutation_p.F285S|ZNF763_ENST00000538752.1_Missense_Mutation_p.F285S	p.F268S	NM_001012753.1	NP_001012771.1					4	958	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.803T>C		.	.	.	.	.	.	.	.	.	.	t	14.73	2.622902	0.46840	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	1.4	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70465	0.3227	M	0.91406	3.205	0.24115	N	0.995823	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.989;0.992;0.986	T	0.57010	-0.7884	9	0.87932	D	0	.	7.6577	0.28386	0.0:0.0:0.0:1.0	.	285;265;268	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	S	285;268;143;265	ENSP00000438117:F285S;ENSP00000369774:F268S;ENSP00000446166:F143S;ENSP00000402017:F265S	ENSP00000369774:F268S	F	+	2	0	ZNF763	11950533	0.967000	0.33354	0.005000	0.12908	0.052000	0.14988	4.485000	0.60279	0.614000	0.30107	0.164000	0.16699	TTC		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		30	45	0	0	0	1	0	30	45				
SIGLEC12	89858	broad.mit.edu	37	19	52002816	52002816	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52002816G>T	ENST00000291707.3	-	3	1018	c.963C>A	c.(961-963)atC>atA	p.I321I	SIGLEC12_ENST00000598614.1_Silent_p.I203I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	321	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGAGCGAGTGATAGTGGGGT	0.662																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(961-963)atC>atA		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							68.0	58.0	61.0					19																	52002816		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52002816G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.963C>A	19.37:g.52002816G>T						SIGLEC12_ENST00000598614.1_Silent_p.I203I	p.I321I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	3	1018	-		all_neural(266;0.0199)	321			Ig-like C2-type 1.		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.963C>A	CCDS12833.1																																																																																				0.662	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		11	24	1	0	1.58986e-06	1	1.65464e-06	11	24				
USP14	9097	broad.mit.edu	37	18	163395	163395	+	Missense_Mutation	SNP	C	C	T	rs201080569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:163395C>T	ENST00000261601.7	+	2	195	c.104C>T	c.(103-105)gCg>gTg	p.A35V	USP14_ENST00000383589.2_Missense_Mutation_p.A35V|USP14_ENST00000582707.1_Missense_Mutation_p.A35V|USP14_ENST00000400266.3_Missense_Mutation_p.A35V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	35	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAGCTGTTTGCGTTGACTGGA	0.383																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(103-105)gCg>gTg		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							75.0	76.0	76.0					18																	163395		2203	4300	6503	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:163395C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.104C>T	18.37:g.163395C>T	ENSP00000261601:p.Ala35Val					USP14_ENST00000582707.1_Missense_Mutation_p.A35V|USP14_ENST00000383589.2_Missense_Mutation_p.A35V|USP14_ENST00000400266.3_Missense_Mutation_p.A35V	p.A35V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			2	195	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	35			Ubiquitin-like.		J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.104C>T	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478251	0.96291	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T;T	0.32515	1.45;1.45;1.47	5.34	5.34	0.76211	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.69307	0.963;0.934;0.95	T	0.64533	-0.6385	10	0.72032	D	0.01	0.1104	19.0422	0.93004	0.0:1.0:0.0:0.0	.	35;35;35	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	35	ENSP00000261601:A35V;ENSP00000373083:A35V;ENSP00000383125:A35V	ENSP00000261601:A35V	A	+	2	0	USP14	153395	1.000000	0.71417	0.981000	0.43875	0.860000	0.49131	7.818000	0.86416	2.496000	0.84212	0.650000	0.86243	GCG		0.383	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		21	17	0	0	0	1	0	21	17				
RFFL	117584	broad.mit.edu	37	17	33339066	33339066	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33339066G>A	ENST00000315249.7	-	7	1235	c.1013C>T	c.(1012-1014)aCc>aTc	p.T338I	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.T247I|RFFL_ENST00000394597.2_Missense_Mutation_p.T338I|RFFL_ENST00000415395.2_Missense_Mutation_p.T338I|RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000584655.1_Missense_Mutation_p.T302I|RFFL_ENST00000268850.7_Missense_Mutation_p.T302I|RFFL_ENST00000413582.2_Missense_Mutation_p.T330I|RFFL_ENST00000378516.2_Missense_Mutation_p.T330I|RFFL_ENST00000447669.2_Missense_Mutation_p.T338I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCACACTTGGTACAGGTTAC	0.517																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(1012-1014)aCc>aTc		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							149.0	112.0	125.0					17																	33339066		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33339066G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.1013C>T	17.37:g.33339066G>A	ENSP00000326170:p.Thr338Ile					RFFL_ENST00000413582.2_Missense_Mutation_p.T330I|RFFL_ENST00000415395.2_Missense_Mutation_p.T338I|RFFL_ENST00000394597.2_Missense_Mutation_p.T338I|RFFL_ENST00000268850.7_Missense_Mutation_p.T302I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.T247I|RFFL_ENST00000584655.1_Missense_Mutation_p.T302I|RFFL_ENST00000378516.2_Missense_Mutation_p.T330I|RFFL_ENST00000447669.2_Missense_Mutation_p.T338I	p.T338I			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1235	-		Ovarian(249;0.17)	338						Missense_Mutation	SNP	ENST00000315249.7	37	c.1013C>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150585	0.94645	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.092424	0.85682	D	0.000000	T	0.79930	0.4531	N	0.13098	0.295	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.87578	0.899;0.998;0.996	T	0.79230	-0.1889	10	0.35671	T	0.21	-25.3539	18.8715	0.92317	0.0:0.0:1.0:0.0	.	302;338;330	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	I	338;338;330;302	ENSP00000326170:T338I;ENSP00000378096:T338I;ENSP00000367777:T330I;ENSP00000268850:T302I	ENSP00000268850:T302I	T	-	2	0	RFFL	30363179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	ACC		0.517	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		16	19	0	0	0	1	0	16	19				
LGALS14	56891	broad.mit.edu	37	19	40199920	40199920	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40199920T>C	ENST00000392052.3	+	4	610	c.387T>C	c.(385-387)gaT>gaC	p.D129D	LGALS14_ENST00000360675.3_Silent_p.D158D	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	129	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TCTTCAGAGATATCTCCCTGA	0.473																																						ENST00000392052.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(385-387)gaT>gaC		lectin, galactoside-binding, soluble, 14							104.0	95.0	98.0					19																	40199920		2203	4300	6503	SO:0001819	synonymous_variant	56891					nucleus	sugar binding	g.chr19:40199920T>C	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.387T>C	19.37:g.40199920T>C						LGALS14_ENST00000360675.3_Silent_p.D158D	p.D129D	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	610	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	129			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Silent	SNP	ENST00000392052.3	37	c.387T>C	CCDS46073.1																																																																																				0.473	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		25	34	0	0	0	1	0	25	34				
ITGB4	3691	broad.mit.edu	37	17	73746878	73746878	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73746878G>A	ENST00000200181.3	+	29	3779	c.3592G>A	c.(3592-3594)Gcc>Acc	p.A1198T	ITGB4_ENST00000339591.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000579662.1_Missense_Mutation_p.A1198T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1198T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1198T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1198	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.A1198T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGTGTGCGCCTACGGGGC	0.627																																						ENST00000200181.3																			1	Substitution - Missense(1)	p.A1198T(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3592-3594)Gcc>Acc		integrin, beta 4							97.0	101.0	100.0					17																	73746878		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73746878G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3592G>A	17.37:g.73746878G>A	ENSP00000200181:p.Ala1198Thr					ITGB4_ENST00000579662.1_Missense_Mutation_p.A1198T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000339591.3_Missense_Mutation_p.A1198T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1198T	p.A1198T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		29	3779	+	all_cancers(13;1.5e-07)		1198			Fibronectin type-III 1.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3592G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973846	0.53720	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.67523	-0.27;-0.27;-0.27	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202636	0.41500	D	0.000872	D	0.87196	0.6117	H	0.94734	3.575	0.51767	D	0.999936	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74348	0.96;0.944;0.983	D	0.90595	0.4540	10	0.72032	D	0.01	.	19.0364	0.92980	0.0:0.0:1.0:0.0	.	1198;1198;1198	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	T	1198	ENSP00000200181:A1198T;ENSP00000344079:A1198T;ENSP00000400217:A1198T	ENSP00000200181:A1198T	A	+	1	0	ITGB4	71258473	1.000000	0.71417	0.987000	0.45799	0.889000	0.51656	5.736000	0.68597	2.504000	0.84457	0.561000	0.74099	GCC		0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			23	50	0	0	0	1	0	23	50				
MMP26	56547	broad.mit.edu	37	11	5011027	5011027	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5011027G>A	ENST00000380390.1	+	3	465	c.249G>A	c.(247-249)ggG>ggA	p.G83G	MMP26_ENST00000300762.1_Silent_p.G83G|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	83					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCCACTGTGGGGTGCCTGATG	0.517																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(247-249)ggG>ggA		matrix metallopeptidase 26							77.0	61.0	67.0					11																	5011027		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5011027G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.249G>A	11.37:g.5011027G>A						MMP26_ENST00000300762.1_Silent_p.G83G|MMP26_ENST00000477339.1_3'UTR	p.G83G			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	3	465	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	83					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.249G>A	CCDS7752.1																																																																																				0.517	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		10	27	0	0	0	1	0	10	27				
EMILIN2	84034	broad.mit.edu	37	18	2892105	2892105	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:2892105G>T	ENST00000254528.3	+	4	2139	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	660					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGTCCCCCCAGCACCCCGTGG	0.572																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(1978-1980)caG>caT		elastin microfibril interfacer 2							56.0	55.0	56.0					18																	2892105		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892105G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1980G>T	18.37:g.2892105G>T	ENSP00000254528:p.Gln660His						p.Q660H	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2139	+			660					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1980G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075659	0.36662	.	.	ENSG00000132205	ENST00000254528	T	0.23147	1.92	5.2	4.32	0.51571	.	1.610870	0.03066	N	0.156530	T	0.34106	0.0886	L	0.60455	1.87	0.09310	N	0.999998	P	0.43287	0.802	B	0.41813	0.367	T	0.32428	-0.9907	10	0.54805	T	0.06	-3.4343	10.7883	0.46417	0.0917:0.0:0.9083:0.0	.	660	Q9BXX0	EMIL2_HUMAN	H	660	ENSP00000254528:Q660H	ENSP00000254528:Q660H	Q	+	3	2	EMILIN2	2882105	0.051000	0.20477	0.019000	0.16419	0.016000	0.09150	2.554000	0.45845	2.421000	0.82119	0.563000	0.77884	CAG		0.572	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		14	19	1	0	4.36969e-10	1	4.65946e-10	14	19				
ATP10A	57194	broad.mit.edu	37	15	25959378	25959378	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25959378C>A	ENST00000356865.6	-	10	1898	c.1787G>T	c.(1786-1788)aGg>aTg	p.R596M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	596					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCTCAAACCTCACCCTCAC	0.602																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1786-1788)aGg>aTg		ATPase, class V, type 10A							31.0	35.0	34.0					15																	25959378		2193	4286	6479	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959378C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1787G>T	15.37:g.25959378C>A	ENSP00000349325:p.Arg596Met						p.R596M	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1898	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	596					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1787G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466428	0.63625	.	.	ENSG00000206190	ENST00000356865	T	0.11169	2.8	4.62	3.68	0.42216	HAD-like domain (1);	0.136893	0.64402	D	0.000009	T	0.30355	0.0762	M	0.70595	2.14	0.45747	D	0.998641	D	0.69078	0.997	D	0.70227	0.968	T	0.04103	-1.0977	10	0.46703	T	0.11	-24.5077	14.6584	0.68850	0.0:0.8538:0.1462:0.0	.	596	O60312	AT10A_HUMAN	M	596	ENSP00000349325:R596M	ENSP00000349325:R596M	R	-	2	0	ATP10A	23510471	1.000000	0.71417	0.553000	0.28255	0.945000	0.59286	3.814000	0.55643	1.137000	0.42214	0.655000	0.94253	AGG		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		15	25	1	0	1.02788e-11	1	1.10723e-11	15	25				
LAMA5	3911	broad.mit.edu	37	20	60904282	60904282	+	Missense_Mutation	SNP	C	C	T	rs202031005		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60904282C>T	ENST00000252999.3	-	33	4213	c.4147G>A	c.(4147-4149)Gtc>Atc	p.V1383I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1383	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AAGCTGTAGACGTTCTCAGGG	0.637																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4147-4149)Gtc>Atc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	58.0	64.0	62.0		4147	2.8	0.2	20		62	0,8598		0,0,4299	yes	missense	LAMA5	NM_005560.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1383/3696	60904282	1,13003	2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60904282C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4147G>A	20.37:g.60904282C>T	ENSP00000252999:p.Val1383Ile						p.V1383I	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		33	4213	-	Breast(26;1.57e-08)		1383			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4147G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105271	0.20632	2.27E-4	0.0	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.79	2.85	0.33270	.	0.259442	0.42053	U	0.000763	T	0.10165	0.0249	N	0.22421	0.69	0.58432	D	0.999994	B	0.12013	0.005	B	0.06405	0.002	T	0.15350	-1.0440	10	0.39692	T	0.17	.	6.5521	0.22440	0.0:0.566:0.0:0.434	.	1383	O15230	LAMA5_HUMAN	I	1383	ENSP00000252999:V1383I	ENSP00000252999:V1383I	V	-	1	0	LAMA5	60337677	0.909000	0.30893	0.215000	0.23724	0.194000	0.23727	2.398000	0.44486	0.428000	0.26173	-0.254000	0.11334	GTC		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		25	35	0	0	0	1	0	25	35				
PTPN7	5778	broad.mit.edu	37	1	202128422	202128422	+	Nonsense_Mutation	SNP	G	G	A	rs149516769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202128422G>A	ENST00000308986.5	-	2	239	c.109C>T	c.(109-111)Cga>Tga	p.R37*	PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Nonsense_Mutation_p.R76*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Nonsense_Mutation_p.R142*			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	37					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.R76*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCTGCAGTCGCACATGCTTC	0.632																																						ENST00000309017.3																			1	Substitution - Nonsense(1)	p.R76*(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(424-426)Cga>Tga		protein tyrosine phosphatase, non-receptor type 7							56.0	52.0	53.0					1																	202128422		2203	4300	6503	SO:0001587	stop_gained	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128422G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.109C>T	1.37:g.202128422G>A	ENSP00000311133:p.Arg37*					PTPN7_ENST00000367279.4_Nonsense_Mutation_p.R76*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000308986.5_Nonsense_Mutation_p.R37*|PTPN7_ENST00000543735.1_5'UTR	p.R142*	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			2	1197	-			37			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Nonsense_Mutation	SNP	ENST00000308986.5	37	c.424C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.123397	0.94429	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116;ENST00000492451	.	.	.	4.91	3.89	0.44902	.	0.000000	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.936	0.64026	0.0:0.0:0.8379:0.1621	.	.	.	.	X	76;142;37;118;36;37;37;37;37;37	.	ENSP00000311133:R37X	R	-	1	2	PTPN7	200395045	0.213000	0.23551	1.000000	0.80357	0.214000	0.24535	0.363000	0.20301	2.277000	0.76020	0.555000	0.69702	CGA		0.632	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		13	15	0	0	0	1	0	13	15				
INF2	64423	broad.mit.edu	37	14	105180579	105180579	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105180579C>T	ENST00000392634.4	+	21	3192	c.3080C>T	c.(3079-3081)aCg>aTg	p.T1027M	INF2_ENST00000330634.7_Missense_Mutation_p.T1027M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1027					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GTGGGCAGCACGCGCTGTCCC	0.692																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3079-3081)aCg>aTg		inverted formin, FH2 and WH2 domain containing							13.0	19.0	17.0					14																	105180579		2001	4130	6131	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180579C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3080C>T	14.37:g.105180579C>T	ENSP00000376410:p.Thr1027Met					INF2_ENST00000330634.7_Missense_Mutation_p.T1027M	p.T1027M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3192	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1027					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3080C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872036	0.17322	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.80738	-1.4;-1.41	2.4	0.355	0.16069	.	3.286690	0.01603	N	0.022167	T	0.68091	0.2963	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.004	T	0.53251	-0.8465	10	0.46703	T	0.11	.	4.1916	0.10424	0.0:0.6059:0.2381:0.1559	.	1027;1027	Q27J81-2;Q27J81	.;INF2_HUMAN	M	1027	ENSP00000376406:T1027M;ENSP00000376410:T1027M	ENSP00000252527:T495M	T	+	2	0	INF2	104251624	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	2.426000	0.44731	-0.070000	0.12908	-0.424000	0.05967	ACG		0.692	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		4	5	0	0	0	1	0	4	5				
KDELR1	10945	broad.mit.edu	37	19	48887660	48887660	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:48887660G>A	ENST00000330720.2	-	4	625	c.431C>T	c.(430-432)gCg>gTg	p.A144V	KDELR1_ENST00000597017.1_Missense_Mutation_p.A82V	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	144					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GATGGTCTCCGCCTCGCCGGT	0.572																																						ENST00000597017.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(244-246)gCg>gTg		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1							64.0	55.0	58.0					19																	48887660		2203	4300	6503	SO:0001583	missense	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48887660G>A	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.431C>T	19.37:g.48887660G>A	ENSP00000329471:p.Ala144Val					KDELR1_ENST00000330720.2_Missense_Mutation_p.A144V	p.A82V			P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	670	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	144					B2R6N4|Q54A39|Q8NBW7	Missense_Mutation	SNP	ENST00000330720.2	37	c.245C>T	CCDS12718.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492592	0.64074	.	.	ENSG00000105438	ENST00000330720	T	0.38722	1.12	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000014	T	0.39627	0.1085	L	0.56396	1.775	0.80722	D	1	P	0.34800	0.469	B	0.31495	0.131	T	0.24548	-1.0157	10	0.25751	T	0.34	.	17.0435	0.86496	0.0:0.0:1.0:0.0	.	144	P24390	ERD21_HUMAN	V	144	ENSP00000329471:A144V	ENSP00000329471:A144V	A	-	2	0	KDELR1	53579472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.520000	0.98027	2.639000	0.89480	0.655000	0.94253	GCG		0.572	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			10	9	0	0	0	1	0	10	9				
DNAH5	1767	broad.mit.edu	37	5	13824306	13824306	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:13824306A>G	ENST00000265104.4	-	39	6684		c.e39+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGAGTCTTACCAGTTTAGA	0.398									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e39+1		dynein, axonemal, heavy chain 5							112.0	98.0	103.0					5																	13824306		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13824306A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6579+1T>C	5.37:g.13824306A>G								NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			39	6684	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37		CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090333	0.76756	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7637	0.78106	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13877306	1.000000	0.71417	0.929000	0.37066	0.701000	0.40568	9.287000	0.95975	2.178000	0.69098	0.528000	0.53228	.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	10	34	0	0	0	1	0	10	34				
OSBPL3	26031	broad.mit.edu	37	7	24849506	24849506	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24849506G>A	ENST00000313367.2	-	20	2688	c.2237C>T	c.(2236-2238)gCg>gTg	p.A746V	OSBPL3_ENST00000352860.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A679V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A679V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A710V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	746					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCGATGAACCGCTTTTCCACT	0.488																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2236-2238)gCg>gTg		oxysterol binding protein-like 3							191.0	163.0	172.0					7																	24849506		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24849506G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2237C>T	7.37:g.24849506G>A	ENSP00000315410:p.Ala746Val					OSBPL3_ENST00000353930.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A710V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A715V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A679V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A679V	p.A746V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			20	2688	-			746					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2237C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055612	0.01965	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.25	5.25	0.73442	.	0.118428	0.64402	D	0.000015	T	0.08133	0.0203	N	0.00980	-1.08	0.38137	D	0.938343	B;B;B;B	0.13594	0.007;0.007;0.002;0.008	B;B;B;B	0.11329	0.006;0.006;0.002;0.004	T	0.31998	-0.9923	10	0.02654	T	1	-11.3764	7.1605	0.25661	0.2095:0.0:0.7905:0.0	.	679;715;710;746	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	V	746;715;710;679;715;710;679	ENSP00000315410:A746V;ENSP00000315331:A715V;ENSP00000315277:A710V;ENSP00000389779:A679V;ENSP00000379708:A715V;ENSP00000379706:A710V;ENSP00000386953:A679V	ENSP00000315410:A746V	A	-	2	0	OSBPL3	24816031	1.000000	0.71417	0.040000	0.18447	0.009000	0.06853	4.446000	0.60014	2.610000	0.88304	0.557000	0.71058	GCG		0.488	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			79	101	0	0	0	1	0	79	101				
C5orf42	65250	broad.mit.edu	37	5	37167160	37167160	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37167160G>A	ENST00000508244.1	-	34	7482	c.7389C>T	c.(7387-7389)gaC>gaT	p.D2463D	C5orf42_ENST00000425232.2_Silent_p.D2463D|C5orf42_ENST00000274258.7_Silent_p.D1343D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2463						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTTTTTACTGTCCTTTCCTT	0.318																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4027-4029)gaC>gaT		chromosome 5 open reading frame 42							177.0	166.0	170.0					5																	37167160		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37167160G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7389C>T	5.37:g.37167160G>A						C5orf42_ENST00000508244.1_Silent_p.D2463D|C5orf42_ENST00000425232.2_Silent_p.D2463D	p.D1343D			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		35	7616	-	all_lung(31;0.000616)		2463					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4029C>T	CCDS34146.2																																																																																				0.318	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		11	36	0	0	0	1	0	11	36				
CXXC5	51523	broad.mit.edu	37	5	139060174	139060174	+	Silent	SNP	C	C	T	rs200897692		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:139060174C>T	ENST00000302517.3	+	2	780	c.66C>T	c.(64-66)agC>agT	p.S22S	CXXC5_ENST00000511048.1_Silent_p.S22S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	22					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ccaatggcagcggtggcagtg	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15235	0.0		0.0	False		,,,				2504	0.0					ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(64-66)agC>agT		CXXC finger protein 5																																				SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060174C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.66C>T	5.37:g.139060174C>T						CXXC5_ENST00000511048.1_Silent_p.S22S	p.S22S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	780	+			22					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.66C>T	CCDS43370.1																																																																																				0.682	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		3	4	0	0	0	1	0	3	4				
COL1A2	1278	broad.mit.edu	37	7	94050332	94050332	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94050332T>C	ENST00000297268.6	+	38	2778	c.2307T>C	c.(2305-2307)ggT>ggC	p.G769G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	769			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCAAATGGTCCCCCCGGTC	0.453										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2305-2307)ggT>ggC		collagen, type I, alpha 2	Collagenase(DB00048)						152.0	141.0	144.0					7																	94050332		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94050332T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2307T>C	7.37:g.94050332T>C		HNSCC(75;0.22)					p.G769G	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		38	2778	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		769		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2307T>C	CCDS34682.1																																																																																				0.453	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		14	35	0	0	0	1	0	14	35				
PDE8A	5151	broad.mit.edu	37	15	85652350	85652350	+	Missense_Mutation	SNP	G	G	A	rs536962158		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85652350G>A	ENST00000310298.4	+	13	1355	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.R296H|PDE8A_ENST00000339708.5_Missense_Mutation_p.R322H|PDE8A_ENST00000394553.1_Missense_Mutation_p.R368H			O60658	PDE8A_HUMAN	phosphodiesterase 8A	368					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GTTGCCTCCCGTGCAACTGAA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		19358	0.0		0.0	False		,,,				2504	0.001					ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1102-1104)cGt>cAt		phosphodiesterase 8A							94.0	89.0	90.0					15																	85652350		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85652350G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1103G>A	15.37:g.85652350G>A	ENSP00000311453:p.Arg368His					PDE8A_ENST00000339708.5_Missense_Mutation_p.R322H|PDE8A_ENST00000557957.1_Missense_Mutation_p.R296H|PDE8A_ENST00000394553.1_Missense_Mutation_p.R368H|PDE8A_ENST00000557819.2_3'UTR	p.R368H			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		13	1355	+	Colorectal(223;0.227)		368					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1103G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699751	0.30142	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.69926	-0.44;-0.44;-0.44	4.11	2.24	0.28232	.	1.047140	0.07515	N	0.909650	T	0.70124	0.3188	L	0.58669	1.825	0.20489	N	0.999899	B;D	0.58970	0.127;0.984	B;P	0.52710	0.073;0.707	T	0.54330	-0.8310	10	0.32370	T	0.25	.	7.8376	0.29378	0.2061:0.0:0.7939:0.0	.	322;368	O60658-2;O60658	.;PDE8A_HUMAN	H	368;368;322	ENSP00000311453:R368H;ENSP00000378056:R368H;ENSP00000340679:R322H	ENSP00000311453:R368H	R	+	2	0	PDE8A	83453354	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	5.659000	0.68010	0.396000	0.25283	-0.346000	0.07831	CGT		0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		4	24	0	0	0	1	0	4	24				
FBXL7	23194	broad.mit.edu	37	5	15936755	15936755	+	Silent	SNP	C	C	T	rs554047539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:15936755C>T	ENST00000504595.1	+	4	1417	c.936C>T	c.(934-936)acC>acT	p.T312T	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.T265T|FBXL7_ENST00000329673.7_Silent_p.T300T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	312					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCGCCTGACCGACGAAGGCC	0.662																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(934-936)acC>acT		F-box and leucine-rich repeat protein 7							36.0	40.0	38.0					5																	15936755		2188	4283	6471	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936755C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.936C>T	5.37:g.15936755C>T						FBXL7_ENST00000329673.7_Silent_p.T300T|FBXL7_ENST00000510662.1_Silent_p.T265T	p.T312T	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1417	+			312					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.936C>T	CCDS54833.1																																																																																				0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	9	0	0	0	1	0	4	9				
KNTC1	9735	broad.mit.edu	37	12	123060443	123060443	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:123060443A>G	ENST00000333479.7	+	29	2760	c.2583A>G	c.(2581-2583)atA>atG	p.I861M	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	861					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)				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)		ACAAGGAAATAATGGTAAGTA	0.338																																						ENST00000333479.7																			0				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						c.(2581-2583)atA>atG		kinetochore associated 1							66.0	60.0	62.0					12																	123060443		1810	4072	5882	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.chr12:123060443A>G		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.2583A>G	12.37:g.123060443A>G	ENSP00000328236:p.Ile861Met					KNTC1_ENST00000450485.2_Intron	p.I861M	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	29	2760	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		861					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.2583A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535022	0.45073	.	.	ENSG00000184445	ENST00000333479	T	0.17854	2.25	5.89	0.649	0.17806	.	0.152457	0.56097	D	0.000033	T	0.15522	0.0374	M	0.62723	1.935	0.80722	D	1	B	0.29270	0.24	B	0.26202	0.067	T	0.06807	-1.0806	10	0.29301	T	0.29	-20.166	9.327	0.37999	0.549:0.387:0.064:0.0	.	861	P50748	KNTC1_HUMAN	M	861	ENSP00000328236:I861M	ENSP00000328236:I861M	I	+	3	3	KNTC1	121626396	0.982000	0.34865	0.990000	0.47175	0.961000	0.63080	0.338000	0.19858	-0.120000	0.11809	0.533000	0.62120	ATA		0.338	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			8	12	0	0	0	1	0	8	12				
RPS5	6193	broad.mit.edu	37	19	58904796	58904796	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58904796G>A	ENST00000596046.1	+	3	1238	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RPS5_ENST00000601521.1_Missense_Mutation_p.R130H|RPS5_ENST00000196551.3_Missense_Mutation_p.R130H|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000598098.1_Missense_Mutation_p.R60H|RPS5_ENST00000598495.1_Missense_Mutation_p.R151H			P46782	RS5_HUMAN	ribosomal protein S5	130					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CGCATTGGGCGCGCCGGGACT	0.622																																						ENST00000596046.1																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(388-390)cGc>cAc		ribosomal protein S5							79.0	68.0	72.0					19																	58904796		2203	4300	6503	SO:0001583	missense	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58904796G>A	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.389G>A	19.37:g.58904796G>A	ENSP00000472985:p.Arg130His					RPS5_ENST00000598098.1_Missense_Mutation_p.R60H|RPS5_ENST00000598495.1_Missense_Mutation_p.R151H|RPS5_ENST00000601521.1_Missense_Mutation_p.R130H|RPS5_ENST00000196551.3_Missense_Mutation_p.R130H	p.R130H			P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	3	1238	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	130					B2R4T2|Q96BN0	Missense_Mutation	SNP	ENST00000596046.1	37	c.389G>A	CCDS12978.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363841	0.61513	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	4.78	0.61160	Ribosomal protein S7 domain (3);	0.131112	0.50627	D	0.000106	D	0.84047	0.5386	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87454	0.2403	9	0.87932	D	0	-3.9012	15.6905	0.77446	0.0:0.0:1.0:0.0	.	130	P46782	RS5_HUMAN	H	130	.	ENSP00000196551:R130H	R	+	2	0	RPS5	63596608	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	8.383000	0.90157	2.389000	0.81357	0.655000	0.94253	CGC		0.622	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		13	37	0	0	0	1	0	13	37				
ABCB4	5244	broad.mit.edu	37	7	87080982	87080982	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87080982G>A	ENST00000265723.4	-	7	776	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ABCB4_ENST00000545634.1_Missense_Mutation_p.A222V|ABCB4_ENST00000453593.1_Missense_Mutation_p.A222V|ABCB4_ENST00000358400.3_Missense_Mutation_p.A222V|ABCB4_ENST00000359206.3_Missense_Mutation_p.A222V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	222	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGGGCTGATGGCCATTATCAC	0.458																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(664-666)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 4							148.0	127.0	134.0					7																	87080982		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87080982G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.665C>T	7.37:g.87080982G>A	ENSP00000265723:p.Ala222Val					ABCB4_ENST00000359206.3_Missense_Mutation_p.A222V|ABCB4_ENST00000358400.3_Missense_Mutation_p.A222V|ABCB4_ENST00000453593.1_Missense_Mutation_p.A222V|ABCB4_ENST00000545634.1_Missense_Mutation_p.A222V	p.A222V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			7	776	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		222			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.665C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038856	0.93630	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.95	5.07	0.68467	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048720	0.85682	N	0.000000	D	0.94473	0.8221	M	0.77486	2.375	0.80722	D	1	P;D;D	0.59357	0.661;0.981;0.985	P;P;D	0.63113	0.45;0.856;0.911	D	0.94469	0.7683	10	0.51188	T	0.08	-6.5554	15.0152	0.71578	0.0676:0.0:0.9324:0.0	.	222;222;222	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	222	ENSP00000352135:A222V;ENSP00000351172:A222V;ENSP00000265723:A222V;ENSP00000392983:A222V;ENSP00000437465:A222V	ENSP00000265723:A222V	A	-	2	0	ABCB4	86918918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.794000	0.99096	1.536000	0.49237	0.655000	0.94253	GCC		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		10	43	0	0	0	1	0	10	43				
SDHAP1	255812	broad.mit.edu	37	3	195701286	195701286	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195701286C>T	ENST00000427841.1	-	0	1538					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CACGACTCTGCGATGCTCAGG	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701286C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701286C>T								NR_003264.2						0	1538	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			18	46	0	0	0	1	0	18	46				
A1CF	29974	broad.mit.edu	37	10	52573657	52573657	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:52573657G>T	ENST00000373993.1	-	8	1351	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	A1CF_ENST00000373997.3_Missense_Mutation_p.P428H|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.P436H|A1CF_ENST00000395489.2_Missense_Mutation_p.P429H|A1CF_ENST00000374001.2_Missense_Mutation_p.P428H|A1CF_ENST00000395495.1_Missense_Mutation_p.P381H|A1CF_ENST00000373995.3_Missense_Mutation_p.P436H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	436					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TAATGTGACAGGATTCATTGG	0.433																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1285-1287)cCt>cAt		APOBEC1 complementation factor							150.0	153.0	152.0					10																	52573657		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573657G>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1307C>A	10.37:g.52573657G>T	ENSP00000363105:p.Pro436His					A1CF_ENST00000374001.1_Missense_Mutation_p.P428H|A1CF_ENST00000373995.3_Missense_Mutation_p.P436H|A1CF_ENST00000373993.1_Missense_Mutation_p.P436H|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.P381H|A1CF_ENST00000373997.3_Missense_Mutation_p.P428H|A1CF_ENST00000282641.2_Missense_Mutation_p.P436H	p.P429H	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1682	-			436					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1286C>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698076	0.30142	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.15017	2.71;2.7;2.71;2.68;2.7;2.46;2.69	5.87	4.94	0.65067	.	0.266360	0.43260	D	0.000600	T	0.17959	0.0431	L	0.47190	1.495	0.35850	D	0.826723	B;B;B;B	0.18013	0.017;0.002;0.003;0.025	B;B;B;B	0.21151	0.033;0.006;0.006;0.029	T	0.06481	-1.0824	10	0.46703	T	0.11	-7.5986	14.2085	0.65750	0.0:0.0:0.8505:0.1495	.	429;436;428;436	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	H	428;436;428;436;436;381;411;429	ENSP00000363113:P428H;ENSP00000363105:P436H;ENSP00000363109:P428H;ENSP00000363107:P436H;ENSP00000282641:P436H;ENSP00000378873:P381H;ENSP00000378868:P429H	ENSP00000282641:P436H	P	-	2	0	A1CF	52243663	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	6.073000	0.71245	2.780000	0.95670	0.655000	0.94253	CCT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		18	109	1	0	3.8784e-16	1	4.25337e-16	18	109				
DIDO1	11083	broad.mit.edu	37	20	61538606	61538606	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:61538606C>T	ENST00000266070.4	-	5	1592	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	DIDO1_ENST00000266071.5_Missense_Mutation_p.A423T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A423T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A423T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A423T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A423T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A423T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395343.1_Missense_Mutation_p.A423T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	423					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A423T(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATTGTCGCTGCGGCGTGTTTG	0.522																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - Missense(1)	p.A423T(1)	large_intestine(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1267-1269)Gca>Aca		death inducer-obliterator 1							218.0	211.0	213.0					20																	61538606		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61538606C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1267G>A	20.37:g.61538606C>T	ENSP00000266070:p.Ala423Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A423T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A423T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A423T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A423T|DIDO1_ENST00000266071.5_Missense_Mutation_p.A423T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A423T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A423T	p.A423T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			5	1592	-	Breast(26;5.68e-08)		423					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1267G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136914	0.77662	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.23348	2.77;2.77;2.41;2.41;1.91;1.91;1.91;1.92;1.92	4.96	4.96	0.65561	.	0.000000	0.42821	D	0.000654	T	0.44705	0.1306	L	0.41079	1.255	0.80722	D	1	D;D;D;P	0.89917	0.999;0.999;1.0;0.774	D;D;D;B	0.97110	0.939;0.939;1.0;0.051	T	0.39941	-0.9589	10	0.66056	D	0.02	-27.938	18.5732	0.91144	0.0:1.0:0.0:0.0	.	423;423;423;423	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	T	423	ENSP00000266070:A423T;ENSP00000378752:A423T;ENSP00000378749:A423T;ENSP00000378744:A423T;ENSP00000359397:A423T;ENSP00000359394:A423T;ENSP00000346692:A423T;ENSP00000359391:A423T;ENSP00000266071:A423T	ENSP00000266070:A423T	A	-	1	0	DIDO1	61009051	1.000000	0.71417	0.324000	0.25361	0.087000	0.18053	7.666000	0.83877	2.472000	0.83506	0.561000	0.74099	GCA		0.522	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		54	84	0	0	0	1	0	54	84				
OR10K2	391107	broad.mit.edu	37	1	158390557	158390557	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158390557G>T	ENST00000314902.2	-	1	99	c.100C>A	c.(100-102)Ctc>Atc	p.L34I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AACAGGTAGAGGAGCAGGAAG	0.532																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(100-102)Ctc>Atc		olfactory receptor, family 10, subfamily K, member 2							108.0	89.0	95.0					1																	158390557		2203	4297	6500	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390557G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.100C>A	1.37:g.158390557G>T	ENSP00000324251:p.Leu34Ile						p.L34I	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	99	-	all_hematologic(112;0.0378)		34						Missense_Mutation	SNP	ENST00000314902.2	37	c.100C>A	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	4.430	0.079608	0.08533	.	.	ENSG00000180708	ENST00000314902	T	0.00448	7.38	4.1	1.07	0.20283	.	0.170375	0.28151	N	0.016407	T	0.00039	0.0001	L	0.31120	0.905	0.09310	N	0.999991	B	0.19331	0.035	B	0.17722	0.019	T	0.48636	-0.9018	10	0.02654	T	1	.	2.5261	0.04691	0.0979:0.3378:0.3126:0.2516	.	34	Q6IF99	O10K2_HUMAN	I	34	ENSP00000324251:L34I	ENSP00000324251:L34I	L	-	1	0	OR10K2	156657181	0.000000	0.05858	0.991000	0.47740	0.771000	0.43674	-0.212000	0.09319	0.117000	0.18138	-0.373000	0.07131	CTC		0.532	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		13	40	1	0	2.27111e-07	1	2.37911e-07	13	40				
SCYL1	57410	broad.mit.edu	37	11	65298235	65298235	+	Missense_Mutation	SNP	G	G	A	rs201604417		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65298235G>A	ENST00000270176.5	+	7	1062	c.985G>A	c.(985-987)Gtt>Att	p.V329I	SCYL1_ENST00000533862.1_Missense_Mutation_p.V329I|SCYL1_ENST00000279270.6_Missense_Mutation_p.V329I|SCYL1_ENST00000524944.1_Missense_Mutation_p.V329I|SCYL1_ENST00000420247.2_Missense_Mutation_p.V329I|SCYL1_ENST00000527009.1_Missense_Mutation_p.V186I|SCYL1_ENST00000525364.1_Missense_Mutation_p.V329I	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	329					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.V329I(1)		ovary(1)|skin(1)	2						TGCTGGGGCCGTTGTCCTCAC	0.622																																						ENST00000524944.1																			1	Substitution - Missense(1)	p.V329I(1)	large_intestine(1)	ovary(1)|skin(1)	2						c.(985-987)Gtt>Att		SCY1-like 1 (S. cerevisiae)		G	ILE/VAL,ILE/VAL	0,3932		0,0,1966	57.0	60.0	59.0		985,985	5.6	1.0	11		59	1,8271		0,1,4135	yes	missense,missense	SCYL1	NM_001048218.1,NM_020680.3	29,29	0,1,6101	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	329/792,329/809	65298235	1,12203	1966	4136	6102	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65298235G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.985G>A	11.37:g.65298235G>A	ENSP00000270176:p.Val329Ile					SCYL1_ENST00000270176.5_Missense_Mutation_p.V329I|SCYL1_ENST00000533862.1_Missense_Mutation_p.V329I|SCYL1_ENST00000279270.6_Missense_Mutation_p.V329I|SCYL1_ENST00000527630.1_Missense_Mutation_p.V329I|SCYL1_ENST00000420247.2_Missense_Mutation_p.V329I|SCYL1_ENST00000527009.1_Missense_Mutation_p.V186I|SCYL1_ENST00000525364.1_Missense_Mutation_p.V329I	p.V329I			Q96KG9	NTKL_HUMAN			7	1018	+			329					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.985G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528262	0.44969	0.0	1.21E-4	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.68952	2.095	0.80722	D	1	B;P;P;D	0.56746	0.165;0.954;0.954;0.977	B;P;P;B	0.49752	0.056;0.621;0.519;0.417	T	0.25293	-1.0136	10	0.38643	T	0.18	-15.9551	17.0326	0.86465	0.0:0.0:1.0:0.0	.	329;329;329;329	E9PS17;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;NTKL_HUMAN	I	329;329;329;329;329;329;329;329;186	ENSP00000270176:V329I;ENSP00000431635:V329I;ENSP00000408192:V329I;ENSP00000437254:V329I;ENSP00000433450:V329I;ENSP00000279270:V329I;ENSP00000432175:V329I;ENSP00000436993:V186I	ENSP00000270176:V329I	V	+	1	0	SCYL1	65054811	1.000000	0.71417	0.951000	0.38953	0.329000	0.28539	6.582000	0.74049	2.623000	0.88846	0.561000	0.74099	GTT		0.622	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		26	42	0	0	0	1	0	26	42				
OTUD5	55593	broad.mit.edu	37	X	48792092	48792092	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48792092T>C	ENST00000156084.4	-	4	862	c.802A>G	c.(802-804)Acc>Gcc	p.T268A	OTUD5_ENST00000396743.3_Missense_Mutation_p.T268A|OTUD5_ENST00000376488.3_Missense_Mutation_p.T268A|OTUD5_ENST00000428668.2_Missense_Mutation_p.T51A|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	268	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TTAATGTAGGTGGTAAAGTCC	0.468																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(802-804)Acc>Gcc		OTU domain containing 5							240.0	200.0	214.0					X																	48792092		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792092T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.802A>G	X.37:g.48792092T>C	ENSP00000156084:p.Thr268Ala					OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.T268A|OTUD5_ENST00000396743.3_Missense_Mutation_p.T268A|OTUD5_ENST00000428668.2_Missense_Mutation_p.T51A	p.T268A	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			4	862	-			268			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.802A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785708	0.49997	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.71	5.71	0.89125	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.32862	0.137;0.387;0.335	B;B;B	0.35859	0.055;0.212;0.135	T	0.16689	-1.0394	10	0.32370	T	0.25	-14.1086	14.1176	0.65164	0.0:0.0:0.0:1.0	.	51;268;268	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	A	268;244;141;268;268;51	ENSP00000379969:T268A;ENSP00000390767:T141A;ENSP00000156084:T268A;ENSP00000365671:T268A;ENSP00000401629:T51A	ENSP00000156084:T268A	T	-	1	0	OTUD5	48677036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.205000	0.65186	2.047000	0.60756	0.430000	0.28490	ACC		0.468	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		60	18	0	0	0	1	0	60	18				
HTT	3064	broad.mit.edu	37	4	3134559	3134559	+	Missense_Mutation	SNP	C	C	T	rs140979048	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3134559C>T	ENST00000355072.5	+	18	2559	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	805					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTTCTTTGGCGGATTGCATT	0.383													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21808	0.001		0.0	False		,,,				2504	0.0					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2413-2415)gCg>gTg		huntingtin							282.0	246.0	257.0					4																	3134559		1920	4137	6057	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134559C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2414C>T	4.37:g.3134559C>T	ENSP00000347184:p.Ala805Val						p.A805V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2559	+		all_epithelial(65;0.18)	805					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2414C>T	CCDS43206.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.41	1.631534	0.29068	.	.	ENSG00000197386	ENST00000355072	T	0.65549	-0.16	4.88	-3.95	0.04118	Armadillo-like helical (1);Armadillo-type fold (1);	0.871262	0.10314	N	0.689612	T	0.24928	0.0605	N	0.01267	-0.92	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.16041	-1.0416	10	0.27082	T	0.32	.	4.7139	0.12886	0.1157:0.1334:0.1154:0.6355	.	805	P42858	HD_HUMAN	V	805	ENSP00000347184:A805V	ENSP00000347184:A805V	A	+	2	0	HTT	3104357	0.752000	0.28338	0.738000	0.30950	0.821000	0.46438	-0.207000	0.09384	-0.729000	0.04875	-0.182000	0.12963	GCG		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		46	82	0	0	0	1	0	46	82				
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	C	T	rs531440933	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.S766S|NPPA-AS1_ENST00000446542.1_RNA	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16793	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2296-2298)agC>agT		chloride channel, voltage-sensitive 6							47.0	47.0	47.0					1																	11898394		2202	4300	6502	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11898394C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2298C>T	1.37:g.11898394C>T			OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	675	CLCN6_ENST00000376487.3_Silent_p.S744S|CLCN6_ENST00000376496.3_Silent_p.S766S|CLCN6_ENST00000312413.6_3'UTR	p.S766S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	21	2350	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	766					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.2298C>T	CCDS138.1																																																																																				0.642	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		8	17	0	0	0	1	0	8	17				
DMBT1	1755	broad.mit.edu	37	10	124402700	124402700	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124402700G>A	ENST00000338354.3	+	53	7134	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	DMBT1_ENST00000359586.6_Missense_Mutation_p.R1063Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2343Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1715Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1715Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2333Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2343	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGCTTCCGGTTCAGGGCC	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7027-7029)cGg>cAg		deleted in malignant brain tumors 1							116.0	125.0	122.0					10																	124402700		2062	4204	6266	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402700G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7028G>A	10.37:g.124402700G>A	ENSP00000342210:p.Arg2343Gln					DMBT1_ENST00000344338.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2343Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2333Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1063Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1715Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1715Q	p.R2343Q			Q9UGM3	DMBT1_HUMAN			53	7134	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2343			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7028G>A		.	.	.	.	.	.	.	.	.	.	G	12.01	1.810830	0.32053	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.28	-1.71	0.08133	Zona pellucida sperm-binding protein (3);	1.062570	0.07505	U	0.907867	T	0.70727	0.3257	N	0.04203	-0.255	0.09310	N	1	B;D;B;B;B;B;B	0.76494	0.072;0.999;0.072;0.072;0.072;0.072;0.088	B;D;B;B;B;B;B	0.64595	0.009;0.927;0.009;0.014;0.009;0.014;0.025	T	0.59910	-0.7365	10	0.48119	T	0.1	.	2.0398	0.03548	0.3582:0.2227:0.3097:0.1094	.	1063;2323;1592;2472;1715;2333;2343	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Q	2343;2472;2343;2343;2343;2342;1715;2333;1715;1715;2343;2333;1715;489;1063	ENSP00000342210:R2343Q;ENSP00000343175:R2333Q;ENSP00000327747:R1715Q;ENSP00000357905:R2343Q;ENSP00000357951:R2333Q;ENSP00000357952:R1715Q;ENSP00000352593:R1063Q	ENSP00000331522:R1715Q	R	+	2	0	DMBT1	124392690	0.000000	0.05858	0.046000	0.18839	0.002000	0.02628	-0.138000	0.10374	-0.199000	0.10317	-0.302000	0.09304	CGG		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		10	101	0	0	0	1	0	10	101				
RFWD2	64326	broad.mit.edu	37	1	176054920	176054920	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:176054920C>T	ENST00000367669.3	-	10	1647	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	RFWD2_ENST00000308769.8_Missense_Mutation_p.R354H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	378					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCTGAGATACGAGACATCCT	0.358																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1132-1134)cGt>cAt		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							89.0	82.0	85.0					1																	176054920		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054920C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1133G>A	1.37:g.176054920C>T	ENSP00000356641:p.Arg378His					RFWD2_ENST00000308769.8_Missense_Mutation_p.R354H	p.R378H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			10	1647	-			378					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1133G>A	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.80|14.80	2.642506|2.642506	0.47153|0.47153	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769|ENST00000459744	T;T;T|.	0.11385|.	2.78;2.78;2.78|.	5.28|5.28	4.37|4.37	0.52481|0.52481	.|.	0.051323|.	0.85682|.	D|.	0.000000|.	T|T	0.36663|0.36663	0.0975|0.0975	N|N	0.08118|0.08118	0|0	0.53688|0.53688	D|D	0.999979|0.999979	B;B;B;B;B|.	0.19331|.	0.003;0.002;0.006;0.035;0.002|.	B;B;B;B;B|.	0.09377|.	0.004;0.0;0.002;0.003;0.0|.	T|T	0.19353|0.19353	-1.0308|-1.0308	10|5	0.41790|.	T|.	0.15|.	-11.774|-11.774	13.3764|13.3764	0.60741|0.60741	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	153;138;354;378;378|.	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6|.	.;.;.;RFWD2_HUMAN;.|.	H|I	153;378;213;354|98	ENSP00000356641:R378H;ENSP00000356638:R213H;ENSP00000310943:R354H|.	ENSP00000310943:R354H|.	R|V	-|-	2|1	0|0	RFWD2|RFWD2	174321543|174321543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	3.363000|3.363000	0.52321|0.52321	1.366000|1.366000	0.46076|0.46076	-0.444000|-0.444000	0.05651|0.05651	CGT|GTA		0.358	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		56	131	0	0	0	1	0	56	131				
MUC4	4585	broad.mit.edu	37	3	195505287	195505287	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195505287C>T	ENST00000346145.4	-	2	161	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MUC4_ENST00000475231.1_Missense_Mutation_p.R4277H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4277H|MUC4_ENST00000349607.4_Intron	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1034			A -> P (in dbSNP:rs3107764). {ECO:0000269|PubMed:10920259, ECO:0000269|PubMed:12084055}.		cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGCTGTGCGTCTCCCACC	0.557																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12829-12831)cGc>cAc		mucin 4, cell surface associated							197.0	160.0	172.0					3																	195505287		2200	4293	6493	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505287C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.122G>A	3.37:g.195505287C>T	ENSP00000304207:p.Arg41His					MUC4_ENST00000475231.1_Missense_Mutation_p.R4277H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.R41H	p.R4277H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	13289	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1034					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.12830G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.020222	0.54576	.	.	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.32515	1.46;1.46;1.45	3.04	3.04	0.35103	.	0.803692	0.10987	N	0.612032	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	D;D;D	0.63880	0.993;0.99;0.969	B;P;B	0.45099	0.347;0.469;0.276	T	0.06041	-1.0849	10	0.54805	T	0.06	-9.6027	9.8588	0.41101	0.0:1.0:0.0:0.0	.	4149;1034;41	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	H	41;4277;4277;1003	ENSP00000304207:R41H;ENSP00000417498:R4277H;ENSP00000420243:R4277H	ENSP00000304207:R41H	R	-	2	0	MUC4	196990066	0.002000	0.14202	0.030000	0.17652	0.001000	0.01503	0.340000	0.19892	2.009000	0.58944	0.633000	0.83428	CGC		0.557	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		21	26	0	0	0	1	0	21	26				
BDKRB2	624	broad.mit.edu	37	14	96706996	96706996	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:96706996C>T	ENST00000306005.3	+	3	527	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	BDKRB2_ENST00000542454.2_Missense_Mutation_p.P84S|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P111S|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P84S	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	111					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CTGCGGGCTGCCCTTCTGGGC	0.597																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(250-252)Ccc>Tcc		bradykinin receptor B2							116.0	117.0	116.0					14																	96706996		2203	4300	6503	SO:0001583	missense	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706996C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.331C>T	14.37:g.96706996C>T	ENSP00000307713:p.Pro111Ser					RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P111S|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P111S|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P84S	p.P84S			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3338	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	111						Missense_Mutation	SNP	ENST00000306005.3	37	c.250C>T	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658546	0.88154	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93474	0.6821	10	0.87932	D	0	-35.3079	17.9557	0.89068	0.0:1.0:0.0:0.0	.	111	P30411	BKRB2_HUMAN	S	84;111;111;84	ENSP00000439459:P84S;ENSP00000450482:P111S;ENSP00000307713:P111S;ENSP00000438376:P84S	ENSP00000307713:P111S	P	+	1	0	BDKRB2	95776749	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.684000	0.84104	2.317000	0.78254	0.561000	0.74099	CCC		0.597	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			39	66	0	0	0	1	0	39	66				
BAHD1	22893	broad.mit.edu	37	15	40750862	40750862	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40750862C>T	ENST00000416165.1	+	2	270	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	BAHD1_ENST00000561234.1_Missense_Mutation_p.P67S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P67S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	67					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TCCTGAGAAGCCCAAGGCCTG	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(199-201)Ccc>Tcc		bromo adjacent homology domain containing 1							64.0	61.0	62.0					15																	40750862		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750862C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.199C>T	15.37:g.40750862C>T	ENSP00000396976:p.Pro67Ser					BAHD1_ENST00000416165.1_Missense_Mutation_p.P67S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P67S	p.P67S			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	458	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	67					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.199C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866612	0.51588	.	.	ENSG00000140320	ENST00000416165	T	0.16597	2.33	5.13	5.13	0.70059	.	0.284005	0.30464	N	0.009565	T	0.07683	0.0193	N	0.08118	0	0.29412	N	0.8612	B;B;B	0.29988	0.264;0.172;0.264	B;B;B	0.24701	0.055;0.025;0.055	T	0.16897	-1.0387	10	0.23302	T	0.38	-18.7925	8.666	0.34121	0.211:0.654:0.135:0.0	.	67;67;67	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	S	67	ENSP00000396976:P67S	ENSP00000396976:P67S	P	+	1	0	BAHD1	38538154	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.364000	0.44187	2.664000	0.90586	0.650000	0.86243	CCC		0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		20	29	0	0	0	1	0	20	29				
DDX56	54606	broad.mit.edu	37	7	44612296	44612296	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44612296C>T	ENST00000258772.5	-	4	537	c.431G>A	c.(430-432)cGc>cAc	p.R144H	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R144H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	144	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GCTTAATATGCGAGATGGGGT	0.502																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(430-432)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							126.0	120.0	122.0					7																	44612296		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612296C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.431G>A	7.37:g.44612296C>T	ENSP00000258772:p.Arg144His					DDX56_ENST00000431640.1_Missense_Mutation_p.R144H|DDX56_ENST00000485367.1_5'UTR	p.R144H	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			4	537	-			144			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.431G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	34	5.319276	0.95682	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.54479	0.57;0.57	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.112230	0.64402	D	0.000015	D	0.82435	0.5036	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.97;0.977	D	0.88356	0.2984	10	0.87932	D	0	-15.3822	17.2396	0.87009	0.0:1.0:0.0:0.0	.	144;144	C9JV95;Q9NY93	.;DDX56_HUMAN	H	144	ENSP00000258772:R144H;ENSP00000393488:R144H	ENSP00000258772:R144H	R	-	2	0	DDX56	44578821	1.000000	0.71417	0.534000	0.28014	0.913000	0.54294	6.407000	0.73280	2.746000	0.94184	0.655000	0.94253	CGC		0.502	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		36	26	0	0	0	1	0	36	26				
SCAI	286205	broad.mit.edu	37	9	127733744	127733744	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:127733744C>T	ENST00000336505.6	-	17	1637	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	SCAI_ENST00000373549.4_Missense_Mutation_p.A550T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	527					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGAGAAATGCCTGATCTGCA	0.398																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1579-1581)Gca>Aca		suppressor of cancer cell invasion							78.0	69.0	72.0					9																	127733744		1840	4086	5926	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127733744C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1579G>A	9.37:g.127733744C>T	ENSP00000336756:p.Ala527Thr					SCAI_ENST00000373549.4_Missense_Mutation_p.A550T	p.A527T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			17	1637	-			527					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1579G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739469	0.30774	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.43688	0.95;0.94	5.04	5.04	0.67666	.	0.102422	0.64402	D	0.000003	T	0.33440	0.0863	L	0.31845	0.965	0.49213	D	0.999768	B;B	0.29936	0.262;0.221	B;B	0.31495	0.094;0.131	T	0.10291	-1.0636	10	0.32370	T	0.25	-12.2117	13.4021	0.60889	0.1674:0.8326:0.0:0.0	.	527;550	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	T	527;550	ENSP00000336756:A527T;ENSP00000362650:A550T	ENSP00000336756:A527T	A	-	1	0	SCAI	126773565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.135000	0.64777	2.508000	0.84585	0.650000	0.86243	GCA		0.398	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		19	28	0	0	0	1	0	19	28				
THOP1	7064	broad.mit.edu	37	19	2807564	2807564	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2807564G>A	ENST00000307741.6	+	8	1214	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	THOP1_ENST00000586677.1_Missense_Mutation_p.M216I|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	337					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CCTGGGACATGCGCTACTACA	0.667																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1009-1011)atG>atA		thimet oligopeptidase 1							48.0	50.0	49.0					19																	2807564		2201	4300	6501	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2807564G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1011G>A	19.37:g.2807564G>A	ENSP00000304467:p.Met337Ile					THOP1_ENST00000586677.1_Missense_Mutation_p.M216I|THOP1_ENST00000591149.1_3'UTR	p.M337I	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1214	+			337					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1011G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083789	0.55861	.	.	ENSG00000172009	ENST00000307741	T	0.06849	3.25	5.18	4.1	0.47936	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.127614	0.64402	D	0.000001	T	0.04092	0.0114	N	0.05554	-0.025	0.80722	D	1	B;B	0.23650	0.089;0.089	B;B	0.25405	0.06;0.06	T	0.21930	-1.0231	10	0.02654	T	1	-73.3855	13.8335	0.63395	0.0:0.0:0.8466:0.1534	.	216;337	B4DU96;P52888	.;THOP1_HUMAN	I	337	ENSP00000304467:M337I	ENSP00000304467:M337I	M	+	3	0	THOP1	2758564	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.875000	0.48491	2.409000	0.81822	0.561000	0.74099	ATG		0.667	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			11	13	0	0	0	1	0	11	13				
SPN	6693	broad.mit.edu	37	16	29675489	29675489	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29675489G>A	ENST00000360121.3	+	2	532	c.440G>A	c.(439-441)aGt>aAt	p.S147N	SPN_ENST00000395389.2_Missense_Mutation_p.S147N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AGTAGGACCAGTGGAGCCCCT	0.542																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(439-441)aGt>aAt		sialophorin							91.0	85.0	87.0					16																	29675489		2197	4300	6497	SO:0001583	missense	0				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675489G>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.440G>A	16.37:g.29675489G>A	ENSP00000353238:p.Ser147Asn					SPN_ENST00000395389.2_Missense_Mutation_p.S147N|AC009133.19_ENST00000449759.1_Intron	p.S147N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	532	+			147					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.440G>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.471044	0.26423	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.37235	1.23;1.21;1.23	3.73	1.73	0.24493	.	0.678851	0.13574	N	0.377785	T	0.21674	0.0522	N	0.22421	0.69	0.09310	N	1	B	0.32101	0.356	B	0.35182	0.197	T	0.18808	-1.0325	10	0.23891	T	0.37	0.1355	5.1169	0.14838	0.1158:0.2133:0.6709:0.0	.	147	P16150	LEUK_HUMAN	N	147	ENSP00000378787:S147N;ENSP00000412907:S147N;ENSP00000353238:S147N	ENSP00000353238:S147N	S	+	2	0	SPN	29582990	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	0.625000	0.24477	0.543000	0.28864	-0.218000	0.12543	AGT		0.542	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			25	23	0	0	0	1	0	25	23				
TXNDC16	57544	broad.mit.edu	37	14	52936757	52936757	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52936757G>A	ENST00000281741.4	-	16	1987	c.1616C>T	c.(1615-1617)aCa>aTa	p.T539I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	539					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGCTTACCTGTTTTCATGGT	0.299																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1615-1617)aCa>aTa		thioredoxin domain containing 16							85.0	88.0	87.0					14																	52936757		2203	4298	6501	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52936757G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1616C>T	14.37:g.52936757G>A	ENSP00000281741:p.Thr539Ile					TXNDC16_ENST00000554399.1_Intron	p.T539I	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			16	1987	-	Breast(41;0.0716)		539					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1616C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725138	0.48833	.	.	ENSG00000087301	ENST00000281741	T	0.31247	1.5	5.2	0.495	0.16890	.	0.755943	0.13219	N	0.404536	T	0.14614	0.0353	N	0.22421	0.69	0.22918	N	0.998562	P;P	0.41313	0.572;0.745	B;B	0.36608	0.226;0.229	T	0.11817	-1.0572	10	0.42905	T	0.14	-26.3976	1.2823	0.02043	0.1824:0.128:0.4148:0.2748	.	534;539	B7ZME4;Q9P2K2	.;TXD16_HUMAN	I	539	ENSP00000281741:T539I	ENSP00000281741:T539I	T	-	2	0	TXNDC16	52006507	0.050000	0.20438	0.640000	0.29408	0.963000	0.63663	0.091000	0.15046	0.284000	0.22305	0.557000	0.71058	ACA		0.299	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		26	72	0	0	0	1	0	26	72				
PKD1	5310	broad.mit.edu	37	16	2160656	2160656	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2160656G>A	ENST00000262304.4	-	15	4720	c.4512C>T	c.(4510-4512)gaC>gaT	p.D1504D	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.D1504D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1504	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCACCCACCGTCCCCCAGAT	0.657																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4510-4512)gaC>gaT		polycystic kidney disease 1 (autosomal dominant)							29.0	34.0	32.0					16																	2160656		2188	4289	6477	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160656G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4512C>T	16.37:g.2160656G>A						PKD1_ENST00000423118.1_Silent_p.D1504D	p.D1504D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4720	-			1504			PKD 10.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4512C>T	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			20	20	0	0	0	1	0	20	20				
CHST8	64377	broad.mit.edu	37	19	34263822	34263822	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:34263822C>T	ENST00000262622.4	+	4	1887	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	CHST8_ENST00000434302.1_Missense_Mutation_p.H377Y|CHST8_ENST00000438847.3_Missense_Mutation_p.H377Y	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	377					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAAGGACCGGCACTCGCAGGA	0.617																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(1129-1131)Cac>Tac		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							50.0	48.0	49.0					19																	34263822		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263822C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1129C>T	19.37:g.34263822C>T	ENSP00000262622:p.His377Tyr					CHST8_ENST00000438847.2_Missense_Mutation_p.H377Y|CHST8_ENST00000434302.1_Missense_Mutation_p.H377Y	p.H377Y	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1887	+	Esophageal squamous(110;0.162)		377					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1129C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332636	0.60853	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73469	-0.75;-0.75;-0.75	5.01	5.01	0.66863	.	0.061969	0.64402	D	0.000006	T	0.74861	0.3772	L	0.28458	0.855	0.41136	D	0.985923	P	0.46395	0.877	P	0.55667	0.781	T	0.70813	-0.4770	10	0.19590	T	0.45	-9.3628	17.2896	0.87152	0.0:1.0:0.0:0.0	.	377	Q9H2A9	CHST8_HUMAN	Y	377	ENSP00000392604:H377Y;ENSP00000393879:H377Y;ENSP00000262622:H377Y	ENSP00000262622:H377Y	H	+	1	0	CHST8	38955662	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	6.244000	0.72391	2.331000	0.79229	0.297000	0.19635	CAC		0.617	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	17	0	0	0	1	0	8	17				
KDM1A	23028	broad.mit.edu	37	1	23397787	23397787	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23397787C>T	ENST00000356634.3	+	11	1560	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	KDM1A_ENST00000400181.4_Missense_Mutation_p.P495S|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.P495S	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	471	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTAAAGCCACCCAGAGATAT	0.378																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1483-1485)Ccc>Tcc		lysine (K)-specific demethylase 1A							116.0	113.0	114.0					1																	23397787		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23397787C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1411C>T	1.37:g.23397787C>T	ENSP00000349049:p.Pro471Ser					KDM1A_ENST00000542151.1_Missense_Mutation_p.P495S|KDM1A_ENST00000356634.3_Missense_Mutation_p.P471S|RP1-184J9.2_ENST00000427154.1_RNA	p.P495S	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			13	1587	+			471			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1483C>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629312	0.67015	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.11169	2.8;2.8;2.8	5.64	5.64	0.86602	Amine oxidase (1);	0.049048	0.85682	D	0.000000	T	0.13841	0.0335	L	0.53561	1.675	0.80722	D	1	B;B	0.26935	0.135;0.164	B;B	0.21708	0.031;0.036	T	0.05305	-1.0893	10	0.25106	T	0.35	-6.0075	18.6845	0.91558	0.0:1.0:0.0:0.0	.	495;471	O60341-2;O60341	.;KDM1A_HUMAN	S	471;495;495	ENSP00000349049:P471S;ENSP00000383042:P495S;ENSP00000439072:P495S	ENSP00000349049:P471S	P	+	1	0	KDM1A	23270374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CCC		0.378	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		36	38	0	0	0	1	0	36	38				
NACA	4666	broad.mit.edu	37	12	57110170	57110170	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57110170G>T	ENST00000454682.1	-	3	5425	c.5144C>A	c.(5143-5145)cCt>cAt	p.P1715H	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1715	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGCATATAGGAGGTGAAGT	0.498			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5143-5145)cCt>cAt		nascent polypeptide-associated complex alpha subunit							341.0	307.0	318.0					12																	57110170		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110170G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5144C>A	12.37:g.57110170G>T	ENSP00000403817:p.Pro1715His					NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	p.P1715H	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5425	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5144C>A		.	.	.	.	.	.	.	.	.	.	G	8.971	0.973063	0.18736	.	.	ENSG00000196531	ENST00000454682	T	0.51325	0.71	3.67	-1.83	0.07833	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.48189	0.57	T	0.39881	-0.9592	7	.	.	.	.	8.8783	0.35358	0.6056:0.0:0.3944:0.0	.	1715	E9PAV3	.	H	1715	ENSP00000403817:P1715H	.	P	-	2	0	NACA	55396437	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.041000	0.12084	-0.318000	0.08665	-0.350000	0.07774	CCT		0.498	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		84	150	1	0	1.06222e-33	1	1.19224e-33	84	150				
TRIM25	7706	broad.mit.edu	37	17	54969543	54969543	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:54969543C>T	ENST00000316881.4	-	9	1460	c.1411G>A	c.(1411-1413)Gct>Act	p.A471T	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.A471T|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	471	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTGACAGAGCCACTTTGTTG	0.498																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1411-1413)Gct>Act		tripartite motif containing 25							69.0	71.0	70.0					17																	54969543		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969543C>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1411G>A	17.37:g.54969543C>T	ENSP00000323889:p.Ala471Thr					TRIM25_ENST00000537230.1_Missense_Mutation_p.A471T	p.A471T	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1460	-	Breast(9;6.15e-08)		471			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1411G>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506953	0.44558	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.10668	2.85;2.85	4.84	0.214	0.15249	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.511934	0.17863	N	0.159475	T	0.11879	0.0289	L	0.41632	1.29	0.22873	N	0.998625	P	0.49358	0.923	P	0.54100	0.742	T	0.22347	-1.0219	10	0.14252	T	0.57	.	5.5053	0.16850	0.3902:0.4633:0.0:0.1465	.	471	Q14258	TRI25_HUMAN	T	471	ENSP00000323889:A471T;ENSP00000445961:A471T	ENSP00000323889:A471T	A	-	1	0	TRIM25	52324542	0.000000	0.05858	0.963000	0.40424	0.168000	0.22595	-0.338000	0.07842	-0.171000	0.10797	-0.409000	0.06214	GCT		0.498	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		51	79	0	0	0	1	0	51	79				
HECW1	23072	broad.mit.edu	37	7	43483842	43483842	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43483842C>T	ENST00000395891.2	+	11	1676	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	HECW1_ENST00000453890.1_Silent_p.T357T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	357					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTGAGTACCGAGCCTGAGT	0.512																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1069-1071)acC>acT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							61.0	67.0	65.0					7																	43483842		2096	4238	6334	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483842C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1071C>T	7.37:g.43483842C>T						HECW1_ENST00000453890.1_Silent_p.T357T	p.T357T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1676	+			357					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1071C>T	CCDS5469.2																																																																																				0.512	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		21	23	0	0	0	1	0	21	23				
ZNF775	285971	broad.mit.edu	37	7	150093913	150093913	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150093913G>A	ENST00000329630.5	+	3	451	c.344G>A	c.(343-345)aGg>aAg	p.R115K		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGGGAAGAGGTTCAGCTGG	0.682																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(343-345)aGg>aAg		zinc finger protein 775							13.0	17.0	15.0					7																	150093913		2158	4282	6440	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150093913G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.344G>A	7.37:g.150093913G>A	ENSP00000330838:p.Arg115Lys						p.R115K	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	451	+	Ovarian(565;0.183)|Melanoma(164;0.226)		115					Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.344G>A	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067475	0.76301	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.15372	2.43;3.09;3.25	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19005	0.0456	N	0.24115	0.695	0.23988	N	0.996256	P	0.51933	0.949	P	0.49799	0.622	T	0.08889	-1.0700	9	0.45353	T	0.12	.	14.3781	0.66892	0.0:0.0:1.0:0.0	.	115	Q96BV0	ZN775_HUMAN	K	115	ENSP00000419336:R115K;ENSP00000330838:R115K;ENSP00000417483:R115K	ENSP00000330838:R115K	R	+	2	0	ZNF775	149724846	0.887000	0.30362	1.000000	0.80357	0.993000	0.82548	3.237000	0.51344	2.250000	0.74265	0.555000	0.69702	AGG		0.682	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		8	4	0	0	0	1	0	8	4				
PRSS38	339501	broad.mit.edu	37	1	228003511	228003511	+	Missense_Mutation	SNP	G	G	A	rs145063024		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:228003511G>A	ENST00000366757.3	+	1	118	c.94G>A	c.(94-96)Gca>Aca	p.A32T		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	32						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGGGTCGCAGCATTGGTCCA	0.687																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(94-96)Gca>Aca		protease, serine, 38		G	THR/ALA	0,4406		0,0,2203	28.0	30.0	30.0		94	-1.0	0.0	1	dbSNP_134	30	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRSS38	NM_183062.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	32/327	228003511	2,13004	2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003511G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.94G>A	1.37:g.228003511G>A	ENSP00000355719:p.Ala32Thr						p.A32T	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			1	118	+			32					Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.94G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397918	0.25205	0.0	2.33E-4	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	2.28	-1.02	0.10135	.	1.028740	0.07804	N	0.957023	T	0.74427	0.3715	N	0.19112	0.55	0.09310	N	1	B	0.21381	0.055	B	0.08055	0.003	T	0.57323	-0.7831	10	0.13470	T	0.59	.	1.9219	0.03309	0.1356:0.1953:0.4702:0.1989	.	32	A1L453	PRS38_HUMAN	T	32	ENSP00000355719:A32T	ENSP00000355719:A32T	A	+	1	0	PRSS38	226070134	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.213000	0.17521	-0.237000	0.09739	0.514000	0.50259	GCA		0.687	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		12	6	0	0	0	1	0	12	6				
KRT20	54474	broad.mit.edu	37	17	39034435	39034435	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39034435A>G	ENST00000167588.3	-	6	1142	c.1101T>C	c.(1099-1101)atT>atC	p.I367I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	367	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTAAGTAGCAATTTCCTGTT	0.433																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1099-1101)atT>atC		keratin 20							273.0	233.0	246.0					17																	39034435		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034435A>G	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1101T>C	17.37:g.39034435A>G							p.I367I	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	1142	-		Breast(137;0.000301)|Ovarian(249;0.15)	367			Coil 2.|Rod.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.1101T>C	CCDS11379.1																																																																																				0.433	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			19	200	0	0	0	1	0	19	200				
GPR21	2844	broad.mit.edu	37	9	125797009	125797009	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:125797009G>A	ENST00000373642.1	+	1	204	c.164G>A	c.(163-165)tGt>tAt	p.C55Y	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	55					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GTATTTCACTGTGCACCTTTG	0.363																																						ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(163-165)tGt>tAt		G protein-coupled receptor 21							209.0	180.0	190.0					9																	125797009		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797009G>A	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.164G>A	9.37:g.125797009G>A	ENSP00000362746:p.Cys55Tyr					RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	p.C55Y	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	204	+			55					B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.164G>A	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165875	0.57476	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.36699	1.24	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.46658	0.1404	L	0.41415	1.275	0.80722	D	1	P	0.36086	0.536	P	0.49226	0.603	T	0.22871	-1.0204	10	0.36615	T	0.2	-10.3652	19.478	0.94996	0.0:0.0:1.0:0.0	.	55	Q99679	GPR21_HUMAN	Y	55	ENSP00000362746:C55Y	ENSP00000362746:C55Y	C	+	2	0	GPR21	124836830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.603000	0.88011	0.563000	0.77884	TGT		0.363	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		4	92	0	0	0	1	0	4	92				
NBAS	51594	broad.mit.edu	37	2	15468417	15468417	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:15468417G>A	ENST00000281513.5	-	37	4392	c.4367C>T	c.(4366-4368)gCa>gTa	p.A1456V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1336V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1456					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1456V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GATTTGATATGCACCACCACA	0.378																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A1456V(1)	large_intestine(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4366-4368)gCa>gTa		neuroblastoma amplified sequence							164.0	150.0	155.0					2																	15468417		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15468417G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4367C>T	2.37:g.15468417G>A	ENSP00000281513:p.Ala1456Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A1336V	p.A1456V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			37	4392	-			1456					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4367C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.367|8.367	0.834424|0.834424	0.16820|0.16820	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10288|.	2.89;3.06|.	5.45|5.45	1.09|1.09	0.20402|0.20402	.|.	0.686003|.	0.16185|.	N|.	0.225680|.	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.0|.	B;B|.	0.19391|.	0.025;0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.87932|.	D|.	0|.	.|.	6.5682|6.5682	0.22523|0.22523	0.4883:0.0:0.5117:0.0|0.4883:0.0:0.5117:0.0	.|.	1336;1456|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|Y	1336;1456|504	ENSP00000413201:A1336V;ENSP00000281513:A1456V|.	ENSP00000281513:A1456V|.	A|H	-|-	2|1	0|0	NBAS|NBAS	15385868|15385868	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.009000|1.009000	0.29886|0.29886	0.373000|0.373000	0.24621|0.24621	-0.150000|-0.150000	0.13652|0.13652	GCA|CAT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		50	58	0	0	0	1	0	50	58				
AHNAK	79026	broad.mit.edu	37	11	62294559	62294559	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62294559G>A	ENST00000378024.4	-	5	7604	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2444					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCATATCAGGCATCTTGAAC	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7330-7332)Cct>Tct		AHNAK nucleoprotein							112.0	112.0	112.0					11																	62294559		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294559G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7330C>T	11.37:g.62294559G>A	ENSP00000367263:p.Pro2444Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2444S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7604	-		Melanoma(852;0.155)	2444					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7330C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.563209	0.65538	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05649	3.41	4.15	4.15	0.48705	.	.	.	.	.	T	0.36552	0.0971	H	0.95114	3.625	0.52099	D	0.999947	D	0.71674	0.998	D	0.80764	0.994	T	0.58487	-0.7628	9	0.87932	D	0	.	16.0694	0.80911	0.0:0.0:1.0:0.0	.	2444	Q09666	AHNK_HUMAN	S	533;2444	ENSP00000367263:P2444S	ENSP00000244934:P533S	P	-	1	0	AHNAK	62051135	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.147000	0.71783	1.870000	0.54199	0.479000	0.44913	CCT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		58	81	0	0	0	1	0	58	81				
SLC25A11	8402	broad.mit.edu	37	17	4841189	4841189	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4841189G>A	ENST00000225665.7	-	8	1132	c.792C>T	c.(790-792)gaC>gaT	p.D264D	SLC25A11_ENST00000544061.2_Silent_p.D213D|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	264					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGAACAGCACGTCCTAGACAC	0.632																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(790-792)gaC>gaT		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							70.0	79.0	76.0					17																	4841189		2203	4300	6503	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841189G>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.792C>T	17.37:g.4841189G>A						SLC25A11_ENST00000544061.2_Silent_p.D213D	p.D264D	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN			8	1132	-			264					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.792C>T	CCDS11059.1																																																																																				0.632	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		17	23	0	0	0	1	0	17	23				
SSTR5	6755	broad.mit.edu	37	16	1129430	1129430	+	Missense_Mutation	SNP	G	G	A	rs565410160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1129430G>A	ENST00000293897.4	+	1	650	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	SSTR5_ENST00000562758.1_Missense_Mutation_p.A188T|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.A188T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	188					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TACCTGCAACGCCAGCTGGCC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		13281	0.001		0.0	False		,,,				2504	0.0					ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(562-564)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)						22.0	26.0	24.0					16																	1129430		2171	4280	6451	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129430G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.562G>A	16.37:g.1129430G>A	ENSP00000293897:p.Ala188Thr					SSTR5_ENST00000562758.1_Missense_Mutation_p.A188T|SSTR5_ENST00000397547.2_Missense_Mutation_p.A188T	p.A188T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	650	+		Hepatocellular(780;0.00369)	188					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.562G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728146	0.30593	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.36878	1.23;1.23	4.76	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.586225	0.17793	N	0.161840	T	0.17023	0.0409	N	0.14661	0.345	0.22468	N	0.999076	B	0.17038	0.02	B	0.12837	0.008	T	0.18116	-1.0347	10	0.72032	D	0.01	.	7.7959	0.29148	0.453:0.238:0.3089:0.0	.	188	P35346	SSR5_HUMAN	T	188	ENSP00000380680:A188T;ENSP00000293897:A188T	ENSP00000293897:A188T	A	+	1	0	SSTR5	1069431	0.987000	0.35691	0.962000	0.40283	0.464000	0.32679	0.386000	0.20702	-0.218000	0.10018	-0.311000	0.09066	GCC		0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	5	0	0	0	1	0	3	5				
MAT1A	4143	broad.mit.edu	37	10	82036245	82036245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:82036245G>A	ENST00000372213.3	-	6	915	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	219					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R219C(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGGCCCTGCGCATCTCCTCC	0.587																																						ENST00000372213.3																			1	Substitution - Missense(1)	p.R219C(1)	large_intestine(1)	endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(655-657)Cgc>Tgc		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						153.0	126.0	135.0					10																	82036245		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036245G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.655C>T	10.37:g.82036245G>A	ENSP00000361287:p.Arg219Cys						p.R219C	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	915	-			219					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.655C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324913	0.81580	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.84442	-1.85	4.84	4.84	0.62591	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.374740	0.32769	N	0.005670	D	0.94604	0.8261	H	0.96805	3.885	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.96052	0.9032	10	0.87932	D	0	-23.3135	15.8349	0.78791	0.0:0.0:1.0:0.0	.	219	Q00266	METK1_HUMAN	C	219	ENSP00000361287:R219C	ENSP00000361280:R219C	R	-	1	0	MAT1A	82026225	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.887000	0.39698	2.677000	0.91161	0.655000	0.94253	CGC		0.587	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		14	73	0	0	0	1	0	14	73				
WNT7A	7476	broad.mit.edu	37	3	13860467	13860467	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13860467G>A	ENST00000285018.4	-	4	1328	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	342					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATCTCCGTGCGCTCGCTGCAC	0.607																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1024-1026)Cgc>Tgc		wingless-type MMTV integration site family, member 7A							54.0	43.0	47.0					3																	13860467		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860467G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.1024C>T	3.37:g.13860467G>A	ENSP00000285018:p.Arg342Cys						p.R342C	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	1328	-			342					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.1024C>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976027	0.53720	.	.	ENSG00000154764	ENST00000285018	T	0.77098	-1.07	4.46	3.51	0.40186	.	0.054174	0.64402	D	0.000001	D	0.88047	0.6332	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.88947	0.3384	10	0.51188	T	0.08	.	11.7024	0.51579	0.0:0.0:0.6736:0.3264	.	342	O00755	WNT7A_HUMAN	C	342	ENSP00000285018:R342C	ENSP00000285018:R342C	R	-	1	0	WNT7A	13835468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.130000	0.50508	2.015000	0.59207	0.563000	0.77884	CGC		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		12	23	0	0	0	1	0	12	23				
NHP2L1	4809	broad.mit.edu	37	22	42071032	42071032	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42071032G>A	ENST00000401959.1	-	4	608	c.292C>T	c.(292-294)Cct>Tct	p.P98S	NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98S|NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102S|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98S	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GCGATGACAGGCCTGGAGACC	0.542																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(292-294)Cct>Tct		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							80.0	75.0	77.0					22																	42071032		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071032G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.292C>T	22.37:g.42071032G>A	ENSP00000383949:p.Pro98Ser					NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102S|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98S|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98S	p.P98S	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	608	-			98						Missense_Mutation	SNP	ENST00000401959.1	37	c.292C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480983	0.44044	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	L	0.42744	1.35	0.80722	D	1	P	0.35944	0.529	B	0.34536	0.185	T	0.55648	-0.8108	10	0.49607	T	0.09	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	98	P55769	NH2L1_HUMAN	S	98;98;98;102	ENSP00000347401:P98S;ENSP00000215956:P98S;ENSP00000383949:P98S;ENSP00000383989:P102S	ENSP00000215956:P98S	P	-	1	0	NHP2L1	40400978	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	9.421000	0.97455	2.666000	0.90696	0.591000	0.81541	CCT		0.542	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		26	35	0	0	0	1	0	26	35				
CASP8AP2	9994	broad.mit.edu	37	6	90577857	90577857	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90577857C>T	ENST00000551025.1	+	0	6285									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAGAACAGAGCTCTATGATAC	0.343																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							50.0	50.0	50.0					6																	90577857		1858	4102	5960			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577857C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577857C>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6285	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.343	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		10	19	0	0	0	1	0	10	19				
REPIN1	29803	broad.mit.edu	37	7	150069895	150069895	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150069895G>A	ENST00000425389.2	+	1	1643	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.R522H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R522H|REPIN1_ENST00000489432.2_Missense_Mutation_p.R579H|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000444957.1_Missense_Mutation_p.R522H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	522					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GACTGCGACCGCAGCTTCAGC	0.657																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1564-1566)cGc>cAc		replication initiator 1							45.0	52.0	50.0					7																	150069895		2199	4299	6498	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069895G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1565G>A	7.37:g.150069895G>A	ENSP00000388287:p.Arg522His					REPIN1_ENST00000489432.2_Missense_Mutation_p.R579H|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R522H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R522H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R522H	p.R522H	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	2054	+	Ovarian(565;0.183)|Melanoma(164;0.226)		522					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1565G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432131	0.62844	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.96;0.973	T	0.26467	-1.0102	9	0.87932	D	0	-22.6129	7.3806	0.26854	0.1168:0.0:0.8832:0.0	.	579;522	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	522;522;522;579;522	ENSP00000445016:R522H;ENSP00000380451:R522H;ENSP00000407714:R522H;ENSP00000417291:R579H;ENSP00000388287:R522H	ENSP00000380451:R522H	R	+	2	0	REPIN1	149700828	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	1.061000	0.30542	2.059000	0.61396	0.563000	0.77884	CGC		0.657	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		16	25	0	0	0	1	0	16	25				
MSANTD4	84437	broad.mit.edu	37	11	105880389	105880389	+	Missense_Mutation	SNP	C	C	T	rs377459704		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105880389C>T	ENST00000301919.4	-	3	2326	c.911G>A	c.(910-912)cGc>cAc	p.R304H	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	304						nucleus (GO:0005634)											CAGTTGCAAGCGTTCTCGCTC	0.418																																						ENST00000301919.4																			0											c.(910-912)cGc>cAc		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							155.0	140.0	145.0					11																	105880389		2201	4298	6499	SO:0001583	missense	84437					nucleus		g.chr11:105880389C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.911G>A	11.37:g.105880389C>T	ENSP00000304713:p.Arg304His					MSANTD4_ENST00000529805.1_5'UTR	p.R304H	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2326	-			304					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.911G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186605	0.38609	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.22	5.22	0.72569	.	0.053032	0.64402	D	0.000001	T	0.41003	0.1140	N	0.17082	0.46	0.42174	D	0.991657	B	0.11235	0.004	B	0.06405	0.002	T	0.26258	-1.0108	9	0.37606	T	0.19	-12.6486	12.4932	0.55912	0.0:0.9229:0.0:0.0771	.	304	Q8NCY6	K1826_HUMAN	H	304	.	ENSP00000304713:R304H	R	-	2	0	KIAA1826	105385599	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.151000	0.64875	2.587000	0.87381	0.491000	0.48974	CGC		0.418	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		6	89	0	0	0	1	0	6	89				
PPP1R13L	10848	broad.mit.edu	37	19	45888900	45888900	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45888900G>A	ENST00000418234.2	-	11	2246	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T723M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	723					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GTCGCTGAGCGTGGTGGCGAA	0.667																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2167-2169)aCg>aTg		protein phosphatase 1, regulatory subunit 13 like							51.0	43.0	46.0					19																	45888900		2201	4298	6499	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888900G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2168C>T	19.37:g.45888900G>A	ENSP00000403902:p.Thr723Met					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.T723M	p.T723M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2246	-		all_neural(266;0.224)|Ovarian(192;0.231)	723					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.2168C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265926	0.80358	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.62232	0.04;0.04	5.44	5.44	0.79542	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	10	0.87932	D	0	.	16.7407	0.85458	0.0:0.0:1.0:0.0	.	723;302	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	723;723;297	ENSP00000403902:T723M;ENSP00000354218:T723M	ENSP00000221478:T297M	T	-	2	0	PPP1R13L	50580740	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.010000	0.93611	2.553000	0.86117	0.561000	0.74099	ACG		0.667	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	15	0	0	0	1	0	5	15				
TEC	7006	broad.mit.edu	37	4	48147115	48147115	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48147115C>T	ENST00000381501.3	-	14	1608	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTGGATGAAGCTGTTTCTCTC	0.458																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1450-1452)aGc>aAc		tec protein tyrosine kinase							192.0	167.0	176.0					4																	48147115		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147115C>T	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1451G>A	4.37:g.48147115C>T	ENSP00000370912:p.Ser484Asn					TEC_ENST00000511471.2_5'UTR	p.S484N	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			14	1608	-			484			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1451G>A	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	3.847	-0.032636	0.07543	.	.	ENSG00000135605	ENST00000381501	T	0.60920	0.15	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110215	0.64402	D	0.000003	T	0.25901	0.0631	N	0.01522	-0.82	0.34273	D	0.681197	B	0.02656	0.0	B	0.08055	0.003	T	0.31916	-0.9926	10	0.02654	T	1	.	12.9085	0.58166	0.0:0.9259:0.0:0.0741	.	484	P42680	TEC_HUMAN	N	484	ENSP00000370912:S484N	ENSP00000370912:S484N	S	-	2	0	TEC	47841872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.476000	0.45171	2.663000	0.90544	0.491000	0.48974	AGC		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			43	62	0	0	0	1	0	43	62				
PID1	55022	broad.mit.edu	37	2	229890602	229890602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:229890602C>T	ENST00000354069.6	-	3	529	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	PID1_ENST00000392054.3_Missense_Mutation_p.A165T|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.A85T|PID1_ENST00000392055.3_Missense_Mutation_p.A134T			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	167	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTGCAGTAGGCGATGCGGGCC	0.587																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(493-495)Gcc>Acc		phosphotyrosine interaction domain containing 1							142.0	130.0	134.0					2																	229890602		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890602C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.499G>A	2.37:g.229890602C>T	ENSP00000283937:p.Ala167Thr					PID1_ENST00000409462.1_Missense_Mutation_p.A85T|PID1_ENST00000392055.3_Missense_Mutation_p.A134T|PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.A167T	p.A165T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	832	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	167			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.493G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563463	0.45694	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.85	5.85	0.93711	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	N	0.17674	0.51	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.99;0.99;0.998;0.997	T	0.61422	-0.7066	8	.	.	.	-37.0042	19.1613	0.93533	0.0:1.0:0.0:0.0	.	85;134;165;167	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	T	165;85;134;167;167	.	.	A	-	1	0	PID1	229598846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.408000	0.80041	2.768000	0.95171	0.655000	0.94253	GCC		0.587	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		11	48	0	0	0	1	0	11	48				
ZNF467	168544	broad.mit.edu	37	7	149461873	149461873	+	Missense_Mutation	SNP	G	G	A	rs575548240	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149461873G>A	ENST00000302017.3	-	5	2131	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGGCGTCCGGGGCCGCGTG	0.706													G|||	6	0.00119808	0.0	0.0	5008	,	,		10727	0.006		0.0	False		,,,				2504	0.0					ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1717-1719)cCg>cTg		zinc finger protein 467							12.0	14.0	13.0					7																	149461873		2007	4130	6137	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149461873G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1718C>T	7.37:g.149461873G>A	ENSP00000304769:p.Pro573Leu					ZNF467_ENST00000484747.1_Intron	p.P573L	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	2131	-	Melanoma(164;0.165)|Ovarian(565;0.177)		573						Missense_Mutation	SNP	ENST00000302017.3	37	c.1718C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015249	0.07959	.	.	ENSG00000181444	ENST00000302017	T	0.08193	3.12	3.96	2.97	0.34412	.	1.765670	0.04033	N	0.301894	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.41790	T	0.15	-10.9533	7.6519	0.28352	0.1066:0.1723:0.721:0.0	.	573	Q7Z7K2	ZN467_HUMAN	L	573	ENSP00000304769:P573L	ENSP00000304769:P573L	P	-	2	0	ZNF467	149092806	0.029000	0.19370	0.007000	0.13788	0.027000	0.11550	1.473000	0.35387	2.068000	0.61886	0.457000	0.33378	CCG		0.706	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		10	13	0	0	0	1	0	10	13				
NTSR2	23620	broad.mit.edu	37	2	11802117	11802117	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11802117G>T	ENST00000306928.5	-	2	908	c.874C>A	c.(874-876)Ctc>Atc	p.L292I		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	292					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGCGCTGGAGGCTGCGGATC	0.582																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(874-876)Ctc>Atc		neurotensin receptor 2	Levocabastine(DB01106)						68.0	73.0	71.0					2																	11802117		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802117G>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.874C>A	2.37:g.11802117G>T	ENSP00000303686:p.Leu292Ile						p.L292I	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	908	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.874C>A	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280010	0.59758	.	.	ENSG00000169006	ENST00000306928	T	0.72051	-0.62	4.31	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001270	T	0.76205	0.3955	L	0.46614	1.455	0.27657	N	0.947215	D	0.69078	0.997	D	0.81914	0.995	T	0.66709	-0.5855	10	0.39692	T	0.17	-24.7179	10.0138	0.42003	0.0:0.0:0.7971:0.2029	.	292	O95665	NTR2_HUMAN	I	292	ENSP00000303686:L292I	ENSP00000303686:L292I	L	-	1	0	NTSR2	11719568	1.000000	0.71417	0.959000	0.39883	0.947000	0.59692	4.047000	0.57383	1.076000	0.40961	0.455000	0.32223	CTC		0.582	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			18	52	1	0	1.15919e-05	1	1.19923e-05	18	52				
NTRK1	4914	broad.mit.edu	37	1	156846355	156846355	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156846355G>A	ENST00000524377.1	+	14	1837	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R563H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R593H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R596H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GACCTCAACCGCTTCCTCCGG	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1777-1779)cGc>cAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						20.0	19.0	19.0					1																	156846355		2203	4295	6498	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846355G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1796G>A	1.37:g.156846355G>A	ENSP00000431418:p.Arg599His	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R563H|NTRK1_ENST00000358660.3_Missense_Mutation_p.R596H|NTRK1_ENST00000524377.1_Missense_Mutation_p.R599H	p.R593H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1898	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		599			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1778G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493508	0.84962	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	D	0.86944	0.6055	N	0.11651	0.15	0.54753	D	0.999988	P;B;D;D	0.89917	0.462;0.441;1.0;1.0	B;B;D;D	0.74674	0.244;0.103;0.984;0.976	D	0.90388	0.4393	10	0.87932	D	0	.	17.6171	0.88070	0.0:0.0:1.0:0.0	.	596;593;599;563	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	563;593;599;596	ENSP00000376120:R563H;ENSP00000357179:R593H;ENSP00000431418:R599H;ENSP00000351486:R596H	ENSP00000351486:R596H	R	+	2	0	NTRK1	155112979	0.779000	0.28652	1.000000	0.80357	0.971000	0.66376	1.502000	0.35704	2.746000	0.94184	0.561000	0.74099	CGC		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		7	9	0	0	0	1	0	7	9				
TTLL3	26140	broad.mit.edu	37	3	9868895	9868895	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9868895G>A	ENST00000547186.1	+	9	1305	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	ARPC4-TTLL3_ENST00000397256.1_Silent_p.T424T|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000426895.4_Silent_p.T506T|TTLL3_ENST00000427853.3_Silent_p.T151T|TTLL3_ENST00000383827.1_Silent_p.T151T|TTLL3_ENST00000455274.1_Silent_p.T151T|TTLL3_ENST00000397241.1_Silent_p.T151T|TTLL3_ENST00000430793.1_Silent_p.T151T	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	363	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCTTTTCCACGCAGCCCTTCT	0.562																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(451-453)acG>acA		tubulin tyrosine ligase-like family, member 3							102.0	91.0	95.0					3																	9868895		2203	4300	6503	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9868895G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1089G>A	3.37:g.9868895G>A						TTLL3_ENST00000455274.1_Silent_p.T151T|TTLL3_ENST00000547186.1_Silent_p.T363T|ARPC4-TTLL3_ENST00000397256.1_Silent_p.T424T|TTLL3_ENST00000466245.1_Intron|TTLL3_ENST00000397241.1_Silent_p.T151T|TTLL3_ENST00000427853.3_Silent_p.T151T|TTLL3_ENST00000426895.4_Silent_p.T506T|TTLL3_ENST00000430793.1_Silent_p.T151T	p.T151T			Q9Y4R7	TTLL3_HUMAN			3	2734	+	Medulloblastoma(99;0.227)		363			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.453G>A		.	.	.	.	.	.	.	.	.	.	G	7.365	0.625543	0.14257	.	.	ENSG00000214021	ENST00000310252	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55049	-0.8201	4	.	.	.	.	8.2289	0.31587	0.1491:0.2394:0.5312:0.0803	.	.	.	.	T	319	.	.	A	+	1	0	TTLL3	9843895	0.000000	0.05858	0.875000	0.34327	0.840000	0.47671	-5.090000	0.00152	-1.493000	0.01835	-1.298000	0.01336	GCA		0.562	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		7	39	0	0	0	1	0	7	39				
ZNF608	57507	broad.mit.edu	37	5	123983470	123983470	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:123983470C>T	ENST00000306315.5	-	4	3042	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ZNF608_ENST00000504926.1_Silent_p.S442S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	869							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTGAGACTCCGACAGTCCAT	0.517																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(2605-2607)tcG>tcA		zinc finger protein 608							82.0	82.0	82.0					5																	123983470		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983470C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2607G>A	5.37:g.123983470C>T						ZNF608_ENST00000504926.1_Silent_p.S442S	p.S869S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3042	-		all_cancers(142;0.186)|Prostate(80;0.081)	869					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2607G>A	CCDS34219.1																																																																																				0.517	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		47	57	0	0	0	1	0	47	57				
POLR3F	10621	broad.mit.edu	37	20	18464142	18464142	+	Silent	SNP	C	C	T	rs562828889	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18464142C>T	ENST00000377603.4	+	9	1271	c.891C>T	c.(889-891)caC>caT	p.H297H	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	297					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						ATGACTGCCACGAAGGTGGTG	0.289													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16173	0.001		0.0	False		,,,				2504	0.0				GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(889-891)caC>caT		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							40.0	38.0	39.0					20																	18464142		2203	4299	6502	SO:0001819	synonymous_variant	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18464142C>T	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.891C>T	20.37:g.18464142C>T						POLR3F_ENST00000462997.1_3'UTR	p.H297H	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			9	1271	+			297					A8K4C7|O15319	Silent	SNP	ENST00000377603.4	37	c.891C>T	CCDS13135.1																																																																																				0.289	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		34	59	0	0	0	1	0	34	59				
CASP9	842	broad.mit.edu	37	1	15844776	15844776	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15844776C>A	ENST00000333868.5	-	2	341	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.D83Y|CASP9_ENST00000348549.5_Missense_Mutation_p.D83Y	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	83	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCCAGCATGTCCTGGCCTGTG	0.537																																						ENST00000546424.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(247-249)Gac>Tac		caspase 9, apoptosis-related cysteine peptidase							99.0	89.0	93.0					1																	15844776		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844776C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.247G>T	1.37:g.15844776C>A	ENSP00000330237:p.Asp83Tyr					CASP9_ENST00000333868.5_Missense_Mutation_p.D83Y|CASP9_ENST00000348549.5_Missense_Mutation_p.D83Y|CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000469637.1_5'UTR	p.D83Y			P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	491	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	83			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.247G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007819	0.35415	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000440484	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.5	-5.13	0.02884	DEATH-like (2);Caspase Recruitment (3);	0.910902	0.09759	N	0.759579	T	0.10594	0.0259	L	0.31926	0.97	0.26165	N	0.979946	B;B;B	0.14805	0.001;0.011;0.009	B;B;B	0.20184	0.003;0.022;0.028	T	0.37776	-0.9691	10	0.23302	T	0.38	.	1.5868	0.02646	0.2121:0.1751:0.3861:0.2267	.	83;83;83	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	Y	83	ENSP00000449584:D83Y;ENSP00000330237:D83Y;ENSP00000255256:D83Y;ENSP00000411304:D83Y	ENSP00000330237:D83Y	D	-	1	0	CASP9	15717363	0.000000	0.05858	0.050000	0.19076	0.276000	0.26787	-1.967000	0.01508	-0.485000	0.06754	-0.261000	0.10672	GAC		0.537	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		25	41	1	0	6.32553e-13	1	6.85852e-13	25	41				
SIPA1L1	26037	broad.mit.edu	37	14	72152319	72152319	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:72152319C>A	ENST00000555818.1	+	10	3693	c.3345C>A	c.(3343-3345)atC>atA	p.I1115I	SIPA1L1_ENST00000381232.3_Silent_p.I1115I|SIPA1L1_ENST00000358550.2_Silent_p.I1115I|SIPA1L1_ENST00000537413.1_Silent_p.I590I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1115					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCGAAGCATCTCCAGTGACG	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3343-3345)atC>atA		signal-induced proliferation-associated 1 like 1							48.0	45.0	46.0					14																	72152319		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152319C>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3345C>A	14.37:g.72152319C>A						SIPA1L1_ENST00000358550.2_Silent_p.I1115I|SIPA1L1_ENST00000381232.3_Silent_p.I1115I|SIPA1L1_ENST00000537413.1_Silent_p.I590I	p.I1115I	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3693	+			1115					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.3345C>A	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	22	1	0	1.99824e-07	1	2.09433e-07	14	22				
NUP210	23225	broad.mit.edu	37	3	13418955	13418955	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13418955C>T	ENST00000254508.5	-	9	1235		c.e9+1			NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGCACTCACGTCAGATACA	0.572																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.e9+1		nucleoporin 210kDa							162.0	152.0	155.0					3																	13418955		2203	4300	6503	SO:0001630	splice_region_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13418955C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1152+1G>A	3.37:g.13418955C>T								NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			9	1235	-	all_neural(104;0.187)							A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Splice_Site	SNP	ENST00000254508.5	37		CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032226	0.35893	.	.	ENSG00000132182	ENST00000254508	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210	13393955	1.000000	0.71417	0.953000	0.39169	0.010000	0.07245	7.246000	0.78247	2.280000	0.76307	0.591000	0.81541	.		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	Intron	46	77	0	0	0	1	0	46	77				
TRIM2	23321	broad.mit.edu	37	4	154216756	154216756	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:154216756G>A	ENST00000437508.2	+	6	1198	c.997G>A	c.(997-999)Gag>Aag	p.E333K	TRIM2_ENST00000338700.5_Missense_Mutation_p.E360K|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	333					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGCCACGGGCGAGGGGCTGCG	0.597																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1078-1080)Gag>Aag		tripartite motif containing 2							47.0	44.0	45.0					4																	154216756		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216756G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.997G>A	4.37:g.154216756G>A	ENSP00000415812:p.Glu333Lys					TRIM2_ENST00000437508.2_Missense_Mutation_p.E333K|TRIM2_ENST00000494872.1_3'UTR	p.E360K	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1143	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	333					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1078G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238931	0.95240	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.47528	0.84;0.84	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.041854	0.85682	D	0.000000	T	0.71256	0.3318	M	0.87682	2.9	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59424	0.857;0.857	T	0.74432	-0.3667	10	0.51188	T	0.08	-13.0578	19.8189	0.96583	0.0:0.0:1.0:0.0	.	360;333	D3DP09;Q9C040	.;TRIM2_HUMAN	K	333;360	ENSP00000415812:E333K;ENSP00000339659:E360K	ENSP00000339659:E360K	E	+	1	0	TRIM2	154436206	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.375000	0.97178	2.756000	0.94617	0.561000	0.74099	GAG		0.597	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			11	13	0	0	0	1	0	11	13				
TP53BP1	7158	broad.mit.edu	37	15	43766908	43766908	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43766908G>A	ENST00000263801.3	-	10	1380	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	TP53BP1_ENST00000382044.4_Silent_p.I381I|TP53BP1_ENST00000382039.3_Silent_p.I381I|TP53BP1_ENST00000450115.2_Silent_p.I381I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	376					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTAGGAACGATAAAAGGAG	0.423								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1126-1128)atC>atT	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							92.0	94.0	93.0					15																	43766908		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43766908G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1128C>T	15.37:g.43766908G>A						TP53BP1_ENST00000450115.2_Silent_p.I381I|TP53BP1_ENST00000382039.3_Silent_p.I381I|TP53BP1_ENST00000382044.4_Silent_p.I381I	p.I376I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	10	1380	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	376					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1128C>T	CCDS10096.1																																																																																				0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			13	19	0	0	0	1	0	13	19				
T	6862	broad.mit.edu	37	6	166578323	166578323	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:166578323A>G	ENST00000296946.2	-	5	1101	c.633T>C	c.(631-633)aaT>aaC	p.N211N	T_ENST00000366871.3_Silent_p.N211N	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	211					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TTGCAAATGGATTGTACTTAA	0.343									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(631-633)aaT>aaC		T, brachyury homolog (mouse)							54.0	59.0	57.0					6																	166578323		2203	4297	6500	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166578323A>G	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.633T>C	6.37:g.166578323A>G						T_ENST00000366871.3_Silent_p.N211N	p.N211N	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	5	1101	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	211					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.633T>C	CCDS5290.1																																																																																				0.343	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		25	55	0	0	0	1	0	25	55				
TCF3	6929	broad.mit.edu	37	19	1615322	1615322	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1615322G>A	ENST00000262965.5	-	18	2128	c.1784C>T	c.(1783-1785)gCt>gTt	p.A595V	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.A599V|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|RNU6-1223P_ENST00000517124.1_RNA	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GACCGAGACAGCCTGGTGCAG	0.632			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1783-1785)gCt>gTt		transcription factor 3							74.0	73.0	73.0					19																	1615322		2203	4300	6503	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615322G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1784C>T	19.37:g.1615322G>A	ENSP00000262965:p.Ala595Val					TCF3_ENST00000395423.3_Missense_Mutation_p.A599V|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.A595V	NM_003200.3	NP_003191.1	P15923	TFE2_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)	18	2128	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	595			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1784C>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900835	0.92035	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.99474	-5.97;-5.97	4.14	4.14	0.48551	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.97709	1.0189	10	0.87932	D	0	-27.0814	15.3807	0.74654	0.0:0.0:1.0:0.0	.	595;599;532	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	V	595;599	ENSP00000262965:A595V;ENSP00000378813:A599V	ENSP00000262965:A595V	A	-	2	0	TCF3	1566322	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.479000	0.97929	1.841000	0.53522	0.555000	0.69702	GCT		0.632	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		14	47	0	0	0	1	0	14	47				
PSEN2	5664	broad.mit.edu	37	1	227083146	227083146	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227083146C>T	ENST00000366783.3	+	13	1649	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	ADCK3_ENST00000366779.1_5'Flank|PSEN2_ENST00000391872.2_Silent_p.L438L|PSEN2_ENST00000366782.1_Silent_p.L438L|PSEN2_ENST00000422240.2_Silent_p.L404L|PSEN2_ENST00000472139.2_Silent_p.L261L|PSEN2_ENST00000340188.4_Silent_p.L372L|PSEN2_ENST00000471728.1_3'UTR	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	405					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.L405L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GACCCTCCTGCTGCTTGCTGT	0.602																																						ENST00000366782.1																			1	Substitution - coding silent(1)	p.L405L(1)	endometrium(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(1312-1314)Ctg>Ttg		presenilin 2 (Alzheimer disease 4)							154.0	90.0	112.0					1																	227083146		2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227083146C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1213C>T	1.37:g.227083146C>T						PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000391872.2_Silent_p.L438L|PSEN2_ENST00000422240.2_Silent_p.L404L|PSEN2_ENST00000340188.4_Silent_p.L372L|PSEN2_ENST00000366783.3_Silent_p.L405L|PSEN2_ENST00000472139.2_Silent_p.L261L	p.L438L			P49810	PSN2_HUMAN			13	1812	+		Prostate(94;0.0771)	405	NLVRPFMDTLASHQLYI -> RKHSRFIQMN (in Ref. 3).				A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.1312C>T	CCDS1556.1																																																																																				0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		11	14	0	0	0	1	0	11	14				
GIT1	28964	broad.mit.edu	37	17	27903137	27903137	+	Missense_Mutation	SNP	C	C	T	rs374985717		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27903137C>T	ENST00000225394.3	-	15	1872	c.1624G>A	c.(1624-1626)Gac>Aac	p.D542N	GIT1_ENST00000579937.1_Missense_Mutation_p.D542N|GIT1_ENST00000581348.1_Missense_Mutation_p.D551N|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.D551N	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	542					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TAGATGGCGTCGTCCTCTAGC	0.607																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1624-1626)Gac>Aac		G protein-coupled receptor kinase interacting ArfGAP 1		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	98.0	96.0	97.0		1651,1624	4.2	1.0	17		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GIT1	NM_001085454.1,NM_014030.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	551/771,542/762	27903137	1,13005	2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903137C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1624G>A	17.37:g.27903137C>T	ENSP00000225394:p.Asp542Asn					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.D551N|GIT1_ENST00000579937.1_Missense_Mutation_p.D542N|GIT1_ENST00000581348.1_Missense_Mutation_p.D551N	p.D542N	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	15	1872	-			542					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.1624G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142745	0.57044	0.0	1.16E-4	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.69926	-0.38;-0.44	5.21	4.17	0.49024	.	0.344692	0.31484	N	0.007570	T	0.46190	0.1380	N	0.08118	0	0.33729	D	0.617985	D;P;B;D	0.61080	0.98;0.564;0.429;0.989	B;B;B;P	0.44394	0.368;0.026;0.012;0.448	T	0.54450	-0.8292	10	0.19147	T	0.46	.	13.2569	0.60083	0.1582:0.8418:0.0:0.0	.	555;551;551;542	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	N	542;551	ENSP00000225394:D542N;ENSP00000378338:D551N	ENSP00000225394:D542N	D	-	1	0	GIT1	24927263	0.988000	0.35896	0.976000	0.42696	0.826000	0.46750	3.386000	0.52492	2.598000	0.87819	0.462000	0.41574	GAC		0.607	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		20	26	0	0	0	1	0	20	26				
BAZ1B	9031	broad.mit.edu	37	7	72883849	72883849	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72883849C>T	ENST00000339594.4	-	9	3202	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R955H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	955					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATACTCACTGCGAGGACAGTA	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2863-2865)cGc>cAc		bromodomain adjacent to zinc finger domain, 1B							175.0	144.0	154.0					7																	72883849		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72883849C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2864G>A	7.37:g.72883849C>T	ENSP00000342434:p.Arg955His					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R955H	p.R955H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			9	3202	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	955					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2864G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793039	0.50102	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58940	0.3;0.3	5.21	5.21	0.72293	.	0.296894	0.34025	N	0.004322	T	0.45377	0.1339	N	0.14661	0.345	0.23232	N	0.998078	D	0.56287	0.975	P	0.45232	0.474	T	0.45731	-0.9241	10	0.46703	T	0.11	-7.2978	15.6236	0.76829	0.0:1.0:0.0:0.0	.	955	Q9UIG0	BAZ1B_HUMAN	H	955	ENSP00000342434:R955H;ENSP00000385442:R955H	ENSP00000342434:R955H	R	-	2	0	BAZ1B	72521785	0.914000	0.31030	0.822000	0.32727	0.922000	0.55478	1.310000	0.33551	2.723000	0.93209	0.655000	0.94253	CGC		0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		10	40	0	0	0	1	0	10	40				
SLC3A1	6519	broad.mit.edu	37	2	44541027	44541027	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:44541027T>C	ENST00000260649.6	+	9	1630	c.1554T>C	c.(1552-1554)ggT>ggC	p.G518G	SLC3A1_ENST00000409387.1_Silent_p.G518G|SLC3A1_ENST00000409294.1_Silent_p.G138G|SLC3A1_ENST00000409740.3_Silent_p.G149G|SLC3A1_ENST00000409229.3_Silent_p.G518G|SLC3A1_ENST00000409380.1_Silent_p.G240G	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	518					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAAATGCTGGTTTTTCTGAAG	0.368																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1552-1554)ggT>ggC		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						111.0	100.0	103.0					2																	44541027		2203	4300	6503	SO:0001819	synonymous_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44541027T>C		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1554T>C	2.37:g.44541027T>C						SLC3A1_ENST00000409294.1_Silent_p.G138G|SLC3A1_ENST00000409740.3_Silent_p.G149G|SLC3A1_ENST00000409387.1_Silent_p.G518G|SLC3A1_ENST00000409380.1_Silent_p.G240G|SLC3A1_ENST00000409229.3_Silent_p.G518G	p.G518G	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			9	1630	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	518					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Silent	SNP	ENST00000260649.6	37	c.1554T>C	CCDS1819.1																																																																																				0.368	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		27	40	0	0	0	1	0	27	40				
CAGE1	285782	broad.mit.edu	37	6	7373783	7373783	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7373783C>T	ENST00000512086.1	-	5	1471	c.1269G>A	c.(1267-1269)agG>agA	p.R423R	CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Silent_p.R287R|CAGE1_ENST00000379918.4_Silent_p.R423R|CAGE1_ENST00000502583.1_Silent_p.R423R|CAGE1_ENST00000338150.4_Silent_p.R423R			Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CAGTCATGTACCTTTCCTGTA	0.348																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1267-1269)agG>agA		cancer antigen 1							112.0	99.0	103.0					6																	7373783		1863	4098	5961	SO:0001819	synonymous_variant	285782							g.chr6:7373783C>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1269G>A	6.37:g.7373783C>T						CAGE1_ENST00000296742.7_Silent_p.R287R|CAGE1_ENST00000379918.4_Silent_p.R423R|CAGE1_ENST00000512086.1_Silent_p.R423R|CAGE1_ENST00000338150.4_Silent_p.R423R	p.R423R	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1833	-	Ovarian(93;0.0418)		423					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.1269G>A																																																																																					0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		7	22	0	0	0	1	0	7	22				
RNF19B	127544	broad.mit.edu	37	1	33402616	33402616	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33402616G>A	ENST00000373456.7	-	9	1989	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	RNF19B_ENST00000235150.4_Missense_Mutation_p.R663C|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	664					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R473S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGTCACTGCGGATGCTTTCA	0.582																																						ENST00000373456.7																			1	Substitution - Missense(1)	p.R473S(1)	lung(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1990-1992)Cgc>Tgc		ring finger protein 19B							110.0	102.0	105.0					1																	33402616		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402616G>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1990C>T	1.37:g.33402616G>A	ENSP00000362555:p.Arg664Cys					RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.R663C	p.R664C	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	1989	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	664					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1990C>T	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903585	0.72754	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.38722	1.12;1.13	4.91	2.9	0.33743	.	0.055936	0.64402	D	0.000001	T	0.29914	0.0748	L	0.38175	1.15	0.58432	D	0.999992	B;B	0.31640	0.333;0.225	B;B	0.25506	0.061;0.028	T	0.21895	-1.0232	10	0.72032	D	0.01	.	10.1354	0.42704	0.076:0.0:0.7888:0.1352	.	663;664	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	C	664;663	ENSP00000362555:R664C;ENSP00000235150:R663C	ENSP00000235150:R663C	R	-	1	0	RNF19B	33175203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.404000	0.79996	1.202000	0.43218	0.537000	0.68136	CGC		0.582	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		36	40	0	0	0	1	0	36	40				
ZNF507	22847	broad.mit.edu	37	19	32845370	32845370	+	Missense_Mutation	SNP	C	C	T	rs146402867	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:32845370C>T	ENST00000311921.4	+	2	1826	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	ZNF507_ENST00000355898.5_Missense_Mutation_p.S545L|ZNF507_ENST00000544431.1_Missense_Mutation_p.S545L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	545					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.S545L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATGATGTCGCCACTTAAA	0.443													C|||	4	0.000798722	0.0	0.0	5008	,	,		20784	0.004		0.0	False		,,,				2504	0.0					ENST00000311921.3																			1	Substitution - Missense(1)	p.S545L(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1633-1635)tCg>tTg		zinc finger protein 507							74.0	77.0	76.0					19																	32845370		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845370C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1634C>T	19.37:g.32845370C>T	ENSP00000312277:p.Ser545Leu					ZNF507_ENST00000544431.1_Missense_Mutation_p.S545L|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.S545L	p.S545L	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1826	+	Esophageal squamous(110;0.162)		545					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1634C>T	CCDS32985.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	17.42	3.385557	0.61956	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07567	3.48;3.48;3.18	5.79	5.79	0.91817	.	0.166320	0.53938	D	0.000056	T	0.19685	0.0473	M	0.64997	1.995	0.32616	N	0.524006	B;D	0.89917	0.193;1.0	B;D	0.67900	0.013;0.954	T	0.01829	-1.1265	10	0.28530	T	0.3	.	20.0474	0.97616	0.0:1.0:0.0:0.0	.	545;545	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	L	545	ENSP00000348162:S545L;ENSP00000312277:S545L;ENSP00000441549:S545L	ENSP00000312277:S545L	S	+	2	0	ZNF507	37537210	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.673000	0.68109	2.722000	0.93159	0.655000	0.94253	TCG		0.443	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		20	44	0	0	0	1	0	20	44				
RBBP8	5932	broad.mit.edu	37	18	20562337	20562337	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:20562337G>T	ENST00000399722.2	+	7	936	c.585G>T	c.(583-585)gaG>gaT	p.E195D	RBBP8_ENST00000360790.5_Missense_Mutation_p.E195D|RBBP8_ENST00000399725.2_Missense_Mutation_p.E195D|RBBP8_ENST00000327155.5_Missense_Mutation_p.E195D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	195					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTAAATTGGAGCACTCTGTGT	0.388								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(583-585)gaG>gaT	Homologous recombination	retinoblastoma binding protein 8							171.0	160.0	164.0					18																	20562337		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20562337G>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.585G>T	18.37:g.20562337G>T	ENSP00000382628:p.Glu195Asp					RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.E195D|RBBP8_ENST00000360790.5_Missense_Mutation_p.E195D|RBBP8_ENST00000399725.2_Missense_Mutation_p.E195D	p.E195D	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	936	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		195					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.585G>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276509	0.40294	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.35421	1.34;1.31;1.34;1.33;1.34	5.78	0.943	0.19531	.	0.356526	0.27096	N	0.020958	T	0.47893	0.1470	M	0.70595	2.14	0.09310	N	0.999999	D;P;D	0.69078	0.997;0.799;0.997	P;B;P	0.60012	0.867;0.272;0.867	T	0.30001	-0.9993	10	0.41790	T	0.15	-4.1524	7.9098	0.29785	0.4637:0.0:0.5363:0.0	.	195;195;195	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	D	195	ENSP00000323050:E195D;ENSP00000382630:E195D;ENSP00000382628:E195D;ENSP00000382627:E195D;ENSP00000354024:E195D	ENSP00000323050:E195D	E	+	3	2	RBBP8	18816335	0.605000	0.26941	0.019000	0.16419	0.237000	0.25408	0.430000	0.21428	0.378000	0.24764	0.555000	0.69702	GAG		0.388	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		5	68	1	0	0.184627	1	0.185007	5	68				
CTB-134H23.3	0	broad.mit.edu	37	16	29113395	29113395	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29113395C>A	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							CTGGAGGAGACTCAGTGCAGA	0.498																																						ENST00000564580.1																			0																																																			0							g.chr16:29113395C>A																													16.37:g.29113395C>A														0	1295	+									RNA	SNP	ENST00000562618.1	37			.	.	.	.	.	.	.	.	.	.	c	2.839	-0.240921	0.05906	.	.	ENSG00000103472	ENST00000427965	.	.	.	2.2	2.2	0.27929	.	0.058557	0.64402	D	0.000004	T	0.26340	0.0643	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30937	-0.9961	5	0.06625	T	0.88	.	10.1139	0.42579	0.0:1.0:0.0:0.0	.	.	.	.	E	429	.	ENSP00000398611:D429E	D	+	3	2	AC009093.1	29020896	1.000000	0.71417	0.995000	0.50966	0.105000	0.19272	2.125000	0.42016	1.231000	0.43661	0.393000	0.25936	GAC		0.498	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			16	15	1	0	3.45872e-05	1	3.56558e-05	16	15				
DMBT1	1755	broad.mit.edu	37	10	124380768	124380768	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124380768G>A	ENST00000338354.3	+	41	5199	c.5093G>A	c.(5092-5094)gGc>gAc	p.G1698D	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1698D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1070D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1070D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1688D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1698	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTGGCCAGGGCTCAGGACCC	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5092-5094)gGc>gAc		deleted in malignant brain tumors 1							139.0	141.0	141.0					10																	124380768		1969	4158	6127	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124380768G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5093G>A	10.37:g.124380768G>A	ENSP00000342210:p.Gly1698Asp					DMBT1_ENST00000344338.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1698D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1688D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1070D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1070D	p.G1698D			Q9UGM3	DMBT1_HUMAN			41	5199	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1698			SRCR 13.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5093G>A		.	.	.	.	.	.	.	.	.	.	-	17.14	3.313024	0.60414	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	3.79	3.79	0.43588	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.46145	D	0.000310	D	0.89996	0.6877	H	0.98664	4.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94075	0.7339	10	0.87932	D	0	.	15.5889	0.76510	0.0:0.0:1.0:0.0	.	1698;947;1827;1070;1688;1698	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	D	1698;1827;1698;1698;1698;1698;1070;1688;1070;1070;1698;1688;1070	ENSP00000342210:G1698D;ENSP00000343175:G1688D;ENSP00000327747:G1070D;ENSP00000357905:G1698D;ENSP00000357951:G1688D;ENSP00000357952:G1070D	ENSP00000331522:G1070D	G	+	2	0	DMBT1	124370758	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	9.265000	0.95647	2.068000	0.61886	0.461000	0.40582	GGC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		74	118	0	0	0	1	0	74	118				
PHF12	57649	broad.mit.edu	37	17	27237109	27237109	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27237109C>T	ENST00000577226.1	-	11	2840	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	PHF12_ENST00000332830.4_Intron|PHF12_ENST00000582655.1_5'UTR					PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AACCATGGTGCTTTATTAAGC	0.443																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2494-2496)Gca>Aca		PHD finger protein 12																																				SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27237109C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000577226.1:c.2494G>A	17.37:g.27237109C>T	ENSP00000465161:p.Ala832Thr					PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Intron	p.A832T			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		11	2840	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		0			FHA.			Missense_Mutation	SNP	ENST00000577226.1	37	c.2494G>A		.	.	.	.	.	.	.	.	.	.	C	9.403	1.078581	0.20227	.	.	ENSG00000109118	ENST00000378879	.	.	.	5.16	-2.55	0.06288	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.25067	N	0.991028	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31696	-0.9934	7	0.87932	D	0	.	3.6304	0.08130	0.3528:0.283:0.0:0.3642	.	832;832	Q2TAK2;C9J9G2	.;.	T	832	.	ENSP00000368157:A832T	A	-	1	0	PHF12	24261235	0.010000	0.17322	0.044000	0.18714	0.398000	0.30690	0.009000	0.13219	-0.138000	0.11434	-0.169000	0.13324	GCA		0.443	PHF12-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000446737.3	NM_020889		3	2	0	0	0	1	0	3	2				
CADPS	8618	broad.mit.edu	37	3	62631466	62631466	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:62631466A>G	ENST00000383710.4	-	6	1605	c.1256T>C	c.(1255-1257)gTa>gCa	p.V419A	CADPS_ENST00000490353.2_Missense_Mutation_p.V419A|CADPS_ENST00000357948.3_Missense_Mutation_p.V419A|CADPS_ENST00000283269.9_Missense_Mutation_p.V419A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	419	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGTGCAATATACGATGCGATT	0.458																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1255-1257)gTa>gCa		Ca++-dependent secretion activator							187.0	177.0	181.0					3																	62631466		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62631466A>G	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1256T>C	3.37:g.62631466A>G	ENSP00000373215:p.Val419Ala					CADPS_ENST00000283269.9_Missense_Mutation_p.V419A|CADPS_ENST00000357948.3_Missense_Mutation_p.V419A|CADPS_ENST00000490353.2_Missense_Mutation_p.V419A	p.V419A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	6	1605	-		Lung SC(41;0.0452)	419			C2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1256T>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563876	0.86335	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.71103	-0.54;-0.54;-0.54;0.25	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.68317	2.08	0.80722	D	1	D;P;P	0.58268	0.982;0.954;0.622	P;D;B	0.67900	0.792;0.954;0.137	D	0.84305	0.0507	10	0.87932	D	0	.	15.7937	0.78388	1.0:0.0:0.0:0.0	.	419;419;419	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	A	419	ENSP00000373215:V419A;ENSP00000350632:V419A;ENSP00000283269:V419A;ENSP00000418736:V419A	ENSP00000283269:V419A	V	-	2	0	CADPS	62606506	1.000000	0.71417	0.785000	0.31869	0.601000	0.36947	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	GTA		0.458	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	110	0	0	0	1	0	4	110				
SI	6476	broad.mit.edu	37	3	164777791	164777791	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:164777791C>A	ENST00000264382.3	-	10	1107	c.1045G>T	c.(1045-1047)Gca>Tca	p.A349S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	349	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A349T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCCAATATGCTGGCATTGCT	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			1	Substitution - Missense(1)	p.A349T(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1045-1047)Gca>Tca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						99.0	106.0	104.0					3																	164777791		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777791C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1045G>T	3.37:g.164777791C>A	ENSP00000264382:p.Ala349Ser	HNSCC(35;0.089)					p.A349S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			10	1107	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	349			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1045G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141798	0.21205	.	.	ENSG00000090402	ENST00000264382	D	0.91237	-2.81	5.49	1.03	0.20045	Glycoside hydrolase, superfamily (1);	0.269516	0.42821	N	0.000660	T	0.80869	0.4706	N	0.10837	0.055	0.31031	N	0.717439	B	0.06786	0.001	B	0.17098	0.017	T	0.66642	-0.5872	10	0.19590	T	0.45	.	17.3923	0.87435	0.6766:0.3234:0.0:0.0	.	349	P14410	SUIS_HUMAN	S	349	ENSP00000264382:A349S	ENSP00000264382:A349S	A	-	1	0	SI	166260485	0.019000	0.18553	0.971000	0.41717	0.953000	0.61014	0.134000	0.15932	0.141000	0.18875	0.484000	0.47621	GCA		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		65	103	1	0	6.20203e-27	1	6.93455e-27	65	103				
PPP1R9A	55607	broad.mit.edu	37	7	94855316	94855316	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94855316C>A	ENST00000433881.1	+	7	2466	c.1934C>A	c.(1933-1935)cCt>cAt	p.P645H	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P645H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P645H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P667H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.P645H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	645	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGTAGGACCTGTCCTTCCT	0.498										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1933-1935)cCt>cAt		protein phosphatase 1, regulatory subunit 9A							131.0	111.0	118.0					7																	94855316		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94855316C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1934C>A	7.37:g.94855316C>A	ENSP00000398870:p.Pro645His	HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P645H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P645H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.P645H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P667H	p.P645H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	2150	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		645			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1934C>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095929	0.36952	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16073	2.39;2.4;2.38;2.4;2.37;2.38	5.12	5.12	0.69794	.	0.168440	0.52532	D	0.000063	T	0.39462	0.1079	L	0.54323	1.7	0.47341	D	0.999397	D;D;D;D;D	0.89917	0.994;0.997;0.998;1.0;0.997	D;D;D;D;P	0.74023	0.912;0.975;0.982;0.98;0.783	T	0.07751	-1.0756	10	0.72032	D	0.01	.	19.1381	0.93436	0.0:1.0:0.0:0.0	.	645;645;667;645;645	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	667;645;645;645;645;645	ENSP00000405514:P667H;ENSP00000344524:P645H;ENSP00000411342:P645H;ENSP00000398870:P645H;ENSP00000289495:P645H;ENSP00000402893:P645H	ENSP00000289495:P645H	P	+	2	0	PPP1R9A	94693252	0.999000	0.42202	0.368000	0.25939	0.108000	0.19459	4.812000	0.62613	2.836000	0.97738	0.655000	0.94253	CCT		0.498	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		16	29	1	0	2.23348e-06	1	2.32236e-06	16	29				
PELO	53918	broad.mit.edu	37	5	52096504	52096504	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:52096504G>T	ENST00000274311.2	+	2	1261	c.276G>T	c.(274-276)gaG>gaT	p.E92D	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	92					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGAGAATGAGTATGTCAAGA	0.587																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(274-276)gaG>gaT		pelota homolog (Drosophila)							73.0	70.0	71.0					5																	52096504		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096504G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.276G>T	5.37:g.52096504G>T	ENSP00000274311:p.Glu92Asp					ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron	p.E92D	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN			2	1261	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	92					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.276G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785005	0.31593	.	.	ENSG00000152684	ENST00000274311	T	0.49139	0.79	5.66	2.94	0.34122	eRF1 domain 1/Pelota-like (1);	0.072305	0.56097	U	0.000032	T	0.29556	0.0737	N	0.12853	0.265	0.39065	D	0.960595	B	0.17667	0.023	B	0.26310	0.068	T	0.06972	-1.0797	10	0.33940	T	0.23	-19.2149	10.4935	0.44764	0.2111:0.0:0.7889:0.0	.	92	Q9BRX2	PELO_HUMAN	D	92	ENSP00000274311:E92D	ENSP00000274311:E92D	E	+	3	2	PELO	52132261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.903000	0.48711	0.343000	0.23821	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		15	14	1	0	1.15088e-07	1	1.20771e-07	15	14				
KIAA0100	9703	broad.mit.edu	37	17	26948163	26948163	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26948163C>A	ENST00000528896.2	-	28	5159	c.5085G>T	c.(5083-5085)caG>caT	p.Q1695H	KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1552H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1552H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1695						extracellular region (GO:0005576)				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)					GCTGGGCTTGCTGTGCCTCAG	0.453																																						ENST00000528896.2																			0				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						c.(5083-5085)caG>caT		KIAA0100							66.0	60.0	62.0					17																	26948163		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26948163C>A	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.5085G>T	17.37:g.26948163C>A	ENSP00000436773:p.Gln1695His					KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1552H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1552H	p.Q1695H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			28	5159	-	Lung NSC(42;0.00431)		1695					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5085G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071469	0.36566	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24350	1.86;1.86	5.53	1.17	0.20885	.	0.111909	0.64402	D	0.000006	T	0.25494	0.0620	L	0.29908	0.895	0.42812	D	0.993967	P	0.50617	0.937	P	0.49276	0.605	T	0.01127	-1.1443	10	0.45353	T	0.12	.	14.51	0.67780	0.0:0.8203:0.0:0.1797	.	1695	Q14667	K0100_HUMAN	H	1695;1665;1695;1552	ENSP00000436773:Q1695H;ENSP00000446443:Q1552H	ENSP00000005905:Q1695H	Q	-	3	2	KIAA0100	23972290	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	1.429000	0.34903	-0.168000	0.10853	-1.134000	0.01955	CAG		0.453	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		18	37	1	0	6.33239e-15	1	6.92311e-15	18	37				
FRMD7	90167	broad.mit.edu	37	X	131219626	131219626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:131219626C>A	ENST00000298542.4	-	7	803	c.628G>T	c.(628-630)Gga>Tga	p.G210*	FRMD7_ENST00000464296.1_Nonsense_Mutation_p.G195*|FRMD7_ENST00000370879.1_Nonsense_Mutation_p.G90*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	210	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCAGTACTCCCATGTGAGCA	0.507																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(628-630)Gga>Tga		FERM domain containing 7							166.0	139.0	148.0					X																	131219626		2203	4300	6503	SO:0001587	stop_gained	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219626C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.628G>T	X.37:g.131219626C>A	ENSP00000298542:p.Gly210*					FRMD7_ENST00000464296.1_Nonsense_Mutation_p.G195*|FRMD7_ENST00000370879.1_Nonsense_Mutation_p.G90*	p.G210*	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			7	803	-	Acute lymphoblastic leukemia(192;0.000127)		210			FERM.		C0LLJ3|Q5JX99	Nonsense_Mutation	SNP	ENST00000298542.4	37	c.628G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	39	7.780657	0.98486	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7225	0.88356	0.0:1.0:0.0:0.0	.	.	.	.	X	90;210;195	.	ENSP00000298542:G210X	G	-	1	0	FRMD7	131047307	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.087000	0.71362	2.402000	0.81655	0.600000	0.82982	GGA		0.507	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		5	60	1	0	0.0215528	1	0.0217053	5	60				
CNTN3	5067	broad.mit.edu	37	3	74414810	74414810	+	Silent	SNP	G	G	A	rs138191723	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:74414810G>A	ENST00000263665.6	-	8	1017	c.990C>T	c.(988-990)gcC>gcT	p.A330A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	330	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCTCCACGGCTATTTCCA	0.453																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(988-990)gcC>gcT		contactin 3 (plasmacytoma associated)		G		3,4403	6.2+/-15.9	0,3,2200	180.0	186.0	184.0		990	-7.5	0.4	3	dbSNP_134	184	0,8598		0,0,4299	no	coding-synonymous	CNTN3	NM_020872.1		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		330/1029	74414810	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414810G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.990C>T	3.37:g.74414810G>A							p.A330A	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1017	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	330			Ig-like C2-type 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.990C>T	CCDS33790.1																																																																																				0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		67	125	0	0	0	1	0	67	125				
TTN	7273	broad.mit.edu	37	2	179424206	179424206	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179424206G>A	ENST00000591111.1	-	276	81954	c.81730C>T	c.(81730-81732)Cgt>Tgt	p.R27244C	TTN_ENST00000342992.6_Missense_Mutation_p.R26317C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19945C|TTN_ENST00000460472.2_Missense_Mutation_p.R19820C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28885C|TTN_ENST00000342175.6_Missense_Mutation_p.R20012C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27244	Fibronectin type-III 98. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCCTCACGTTTTTCTATG	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86653-86655)Cgt>Tgt		titin							114.0	114.0	114.0					2																	179424206		1933	4141	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424206G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81730C>T	2.37:g.179424206G>A	ENSP00000465570:p.Arg27244Cys					TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20012C|TTN_ENST00000591111.1_Missense_Mutation_p.R27244C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19820C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26317C|TTN_ENST00000359218.5_Missense_Mutation_p.R19945C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.R28885C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86877	-			27244			Ig-like 133.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86653C>T		.	.	.	.	.	.	.	.	.	.	G	15.90	2.968382	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.62	5.62	0.85841	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75693	0.3884	M	0.63169	1.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76490	-0.2940	9	0.87932	D	0	.	20.0247	0.97519	0.0:0.0:1.0:0.0	.	19820;19945;20012;27244	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26317;19820;20012;19945;19817	ENSP00000343764:R26317C;ENSP00000434586:R19820C;ENSP00000340554:R20012C;ENSP00000352154:R19945C	ENSP00000340554:R20012C	R	-	1	0	TTN	179132452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.002000	0.88514	2.804000	0.96469	0.655000	0.94253	CGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	40	0	0	0	1	0	27	40				
SLC16A12	387700	broad.mit.edu	37	10	91198529	91198529	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91198529G>A	ENST00000341233.4	-	6	1160	c.770C>T	c.(769-771)gCc>gTc	p.A257V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.A287V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AACGGAGACGGCTAACACAAC	0.453																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(769-771)gCc>gTc		solute carrier family 16, member 12							112.0	100.0	104.0					10																	91198529		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198529G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.770C>T	10.37:g.91198529G>A	ENSP00000343022:p.Ala257Val					SLC16A12_ENST00000371790.4_Missense_Mutation_p.A287V	p.A257V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			6	1160	-			257					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.770C>T		.	.	.	.	.	.	.	.	.	.	G	18.13	3.556513	0.65425	.	.	ENSG00000152779	ENST00000341233;ENST00000371790;ENST00000544887	T;T	0.80909	-1.43;-1.43	5.62	4.71	0.59529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.092272	0.85682	D	0.000000	D	0.85839	0.5790	L	0.56769	1.78	0.39476	D	0.967801	D	0.71674	0.998	D	0.69824	0.966	T	0.83308	-0.0024	10	0.11794	T	0.64	.	16.0071	0.80370	0.0:0.1348:0.8652:0.0	.	257	Q6ZSM3	MOT12_HUMAN	V	257;287;64	ENSP00000343022:A257V;ENSP00000360855:A287V	ENSP00000343022:A257V	A	-	2	0	SLC16A12	91188509	1.000000	0.71417	0.236000	0.24074	0.747000	0.42532	6.590000	0.74085	1.505000	0.48720	0.561000	0.74099	GCC		0.453	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		25	26	0	0	0	1	0	25	26				
GGT7	2686	broad.mit.edu	37	20	33447281	33447281	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33447281C>T	ENST00000336431.5	-	7	1023	c.979G>A	c.(979-981)Gca>Aca	p.A327T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	327					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGCCACCTGCGTAGAAGGCA	0.662																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(979-981)Gca>Aca		gamma-glutamyltransferase 7							31.0	30.0	30.0					20																	33447281		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447281C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.979G>A	20.37:g.33447281C>T	ENSP00000338964:p.Ala327Thr						p.A327T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			7	1023	-			327					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.979G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.063012	0.07273	.	.	ENSG00000131067	ENST00000336431	T	0.05925	3.37	5.84	2.57	0.30868	.	0.667620	0.15177	N	0.276318	T	0.02119	0.0066	N	0.01493	-0.835	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.006	T	0.48536	-0.9027	10	0.11182	T	0.66	-15.8471	7.5443	0.27757	0.0:0.568:0.0:0.432	.	327;327	A4FU32;Q9UJ14	.;GGT7_HUMAN	T	327	ENSP00000338964:A327T	ENSP00000338964:A327T	A	-	1	0	GGT7	32910942	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.604000	0.24164	0.256000	0.21614	0.561000	0.74099	GCA		0.662	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		6	5	0	0	0	1	0	6	5				
PPP5C	5536	broad.mit.edu	37	19	46857144	46857144	+	Silent	SNP	G	G	A	rs556367863		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46857144G>A	ENST00000012443.4	+	2	364	c.261G>A	c.(259-261)cgG>cgA	p.R87R	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	87					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ACGCCACGCGGGCCATTGAGC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16976	0.0		0.0	False		,,,				2504	0.0					ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(259-261)cgG>cgA		protein phosphatase 5, catalytic subunit							42.0	30.0	34.0					19																	46857144		2203	4300	6503	SO:0001819	synonymous_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46857144G>A		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.261G>A	19.37:g.46857144G>A						PPP5C_ENST00000391919.1_5'UTR	p.R87R	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	2	364	+		Ovarian(192;0.0731)|all_neural(266;0.196)	87					Q16722|Q53XV2	Silent	SNP	ENST00000012443.4	37	c.261G>A	CCDS12684.1																																																																																				0.612	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		4	4	0	0	0	1	0	4	4				
DPEP2	64174	broad.mit.edu	37	16	68024872	68024872	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:68024872C>T	ENST00000572888.1	-	6	1411	c.761G>A	c.(760-762)gGc>gAc	p.G254D	DPEP2_ENST00000393847.1_Missense_Mutation_p.G254D|DPEP2_ENST00000412757.2_Missense_Mutation_p.G254D			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	254					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TACCATCATGCCCAGGCGGTT	0.547																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(760-762)gGc>gAc		dipeptidase 2							111.0	108.0	109.0					16																	68024872		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68024872C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.761G>A	16.37:g.68024872C>T	ENSP00000458977:p.Gly254Asp					DPEP2_ENST00000393847.1_Missense_Mutation_p.G254D|DPEP2_ENST00000572888.1_Missense_Mutation_p.G254D	p.G254D			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1426	-		Ovarian(137;0.192)	254					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.761G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173833	0.94807	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.38401	1.14;1.14	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82345	-0.0503	10	0.87932	D	0	-20.5365	15.9555	0.79884	0.0:1.0:0.0:0.0	.	254;167	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	D	254;254;167	ENSP00000377430:G254D;ENSP00000412549:G254D	ENSP00000314702:G167D	G	-	2	0	DPEP2	66582373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.098000	0.76974	2.716000	0.92895	0.650000	0.86243	GGC		0.547	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		14	60	0	0	0	1	0	14	60				
PLXNA2	5362	broad.mit.edu	37	1	208216471	208216471	+	Missense_Mutation	SNP	G	G	A	rs371220095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:208216471G>A	ENST00000367033.3	-	21	4709	c.3952C>T	c.(3952-3954)Cgt>Tgt	p.R1318C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1318					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCGTAGGTACGATAGTCCAGG	0.582																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3952-3954)Cgt>Tgt		plexin A2		G	CYS/ARG	0,4406		0,0,2203	96.0	89.0	91.0		3952	4.5	1.0	1		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1318/1895	208216471	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208216471G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3952C>T	1.37:g.208216471G>A	ENSP00000356000:p.Arg1318Cys						p.R1318C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	21	4709	-			1318					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3952C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333592	0.81801	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.13196	2.61	5.42	4.5	0.54988	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.54077	-0.8347	10	0.87932	D	0	.	15.547	0.76112	0.0:0.0:0.8609:0.1391	.	1318	O75051	PLXA2_HUMAN	C	1318	ENSP00000356000:R1318C	ENSP00000356000:R1318C	R	-	1	0	PLXNA2	206283094	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	4.877000	0.63086	1.271000	0.44313	0.650000	0.86243	CGT		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		12	17	0	0	0	1	0	12	17				
C1QTNF9	338872	broad.mit.edu	37	13	24890279	24890279	+	Silent	SNP	C	C	T	rs374313886		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24890279C>T	ENST00000382071.2	+	2	223	c.138C>T	c.(136-138)gaC>gaT	p.D46D	C1QTNF9_ENST00000332018.4_Silent_p.D46D|RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	46	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		ATGGACGAGACGGAGCGAAGG	0.542																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(136-138)gaC>gaT		C1q and tumor necrosis factor related protein 9		C		0,4406		0,0,2203	81.0	73.0	76.0		138	-7.7	0.8	13		76	1,8591	818.2+/-406.9	0,1,4295	no	coding-synonymous	C1QTNF9	NM_178540.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		46/334	24890279	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	338872					collagen	hormone activity	g.chr13:24890279C>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.138C>T	13.37:g.24890279C>T						C1QTNF9_ENST00000332018.4_Silent_p.D46D|C1QTNF9-AS1_ENST00000449656.1_RNA	p.D46D			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	2	223	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	46			Collagen-like 1.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	c.138C>T	CCDS9306.1																																																																																				0.542	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		24	21	0	0	0	1	0	24	21				
ZNF792	126375	broad.mit.edu	37	19	35449064	35449064	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35449064G>A	ENST00000404801.1	-	4	2081	c.1695C>T	c.(1693-1695)agC>agT	p.S565S	ZNF792_ENST00000605484.1_Silent_p.S498S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCCACATTCGCTGCATTCGT	0.507																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1693-1695)agC>agT		zinc finger protein 792							127.0	96.0	107.0					19																	35449064		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449064G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1695C>T	19.37:g.35449064G>A						ZNF792_ENST00000605484.1_Silent_p.S498S	p.S565S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	2081	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		565					B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1695C>T	CCDS12440.2																																																																																				0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		3	21	0	0	0	1	0	3	21				
SORL1	6653	broad.mit.edu	37	11	121454219	121454219	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121454219C>T	ENST00000260197.7	+	26	3762	c.3633C>T	c.(3631-3633)tgC>tgT	p.C1211C	SORL1_ENST00000534286.1_Silent_p.C121C|SORL1_ENST00000525532.1_Silent_p.C155C|SORL1_ENST00000532694.1_Silent_p.C57C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1211	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACGGGCACTGCATCCCCCAGC	0.577																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3631-3633)tgC>tgT		sortilin-related receptor, L(DLR class) A repeats containing							115.0	91.0	99.0					11																	121454219		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121454219C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3633C>T	11.37:g.121454219C>T						SORL1_ENST00000525532.1_Silent_p.C155C|SORL1_ENST00000532694.1_Silent_p.C57C|SORL1_ENST00000534286.1_Silent_p.C121C	p.C1211C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	26	3762	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1211			LDL-receptor class A 4.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.3633C>T	CCDS8436.1																																																																																				0.577	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		6	13	0	0	0	1	0	6	13				
ZC3H10	84872	broad.mit.edu	37	12	56514903	56514903	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56514903G>A	ENST00000257940.2	+	3	833	c.557G>A	c.(556-558)cGt>cAt	p.R186H	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	186							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAGGACGACGTCATGATCTC	0.582																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(556-558)cGt>cAt		zinc finger CCCH-type containing 10							61.0	62.0	62.0					12																	56514903		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56514903G>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.557G>A	12.37:g.56514903G>A	ENSP00000257940:p.Arg186His					RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	p.R186H	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	833	+			186						Missense_Mutation	SNP	ENST00000257940.2	37	c.557G>A	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929093	0.52759	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.62	4.62	0.57501	.	0.147317	0.39759	N	0.001268	T	0.29749	0.0743	N	0.08118	0	0.80722	D	1	D	0.62365	0.991	B	0.43155	0.41	T	0.26883	-1.0090	9	0.72032	D	0.01	-11.6	12.6282	0.56642	0.0:0.1672:0.8328:0.0	.	186	Q96K80	ZC3HA_HUMAN	H	186	.	ENSP00000257940:R186H	R	+	2	0	ZC3H10	54801170	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.765000	0.55272	2.573000	0.86826	0.591000	0.81541	CGT		0.582	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		17	33	0	0	0	1	0	17	33				
ANK2	287	broad.mit.edu	37	4	114278439	114278439	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114278439G>A	ENST00000357077.4	+	38	8718	c.8665G>A	c.(8665-8667)Gac>Aac	p.D2889N	ANK2_ENST00000264366.6_Missense_Mutation_p.D2856N|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2889					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTACCAAAGGACTGCCCCTC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8665-8667)Gac>Aac		ankyrin 2, neuronal							127.0	125.0	126.0					4																	114278439		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278439G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8665G>A	4.37:g.114278439G>A	ENSP00000349588:p.Asp2889Asn					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2856N|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.D2889N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8718	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2856					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8665G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944140	0.34283	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.43	3.38	0.38709	.	0.492179	0.18350	N	0.143906	T	0.64136	0.2571	M	0.70275	2.135	0.18873	N	0.999989	B;B	0.15141	0.012;0.01	B;B	0.13407	0.006;0.009	T	0.55127	-0.8189	9	.	.	.	.	12.9733	0.58525	0.1541:0.0:0.8459:0.0	.	2856;2889	Q01484;Q01484-4	ANK2_HUMAN;.	N	2889;2856	ENSP00000349588:D2889N;ENSP00000264366:D2856N	.	D	+	1	0	ANK2	114497888	0.031000	0.19500	0.015000	0.15790	0.041000	0.13682	2.265000	0.43311	1.276000	0.44395	-0.140000	0.14226	GAC		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		39	53	0	0	0	1	0	39	53				
SPTBN1	6711	broad.mit.edu	37	2	54858170	54858170	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54858170C>T	ENST00000356805.4	+	16	3267	c.2986C>T	c.(2986-2988)Cgc>Tgc	p.R996C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R983C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	996					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCCCTGCAGCGCAAGCTGAC	0.602																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2947-2949)Cgc>Tgc		spectrin, beta, non-erythrocytic 1							56.0	62.0	60.0					2																	54858170		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858170C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2986C>T	2.37:g.54858170C>T	ENSP00000349259:p.Arg996Cys					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R996C	p.R983C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3332	+			996					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2947C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596106	0.66332	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52983	0.64;0.64	5.28	4.32	0.51571	.	0.060371	0.64402	D	0.000008	T	0.73946	0.3652	M	0.92923	3.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80169	-0.1494	10	0.72032	D	0.01	.	12.8386	0.57788	0.3122:0.6878:0.0:0.0	.	983;996	Q01082-3;Q01082	.;SPTB2_HUMAN	C	996;983	ENSP00000349259:R996C;ENSP00000334156:R983C	ENSP00000334156:R983C	R	+	1	0	SPTBN1	54711674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.194000	0.32174	2.479000	0.83701	0.655000	0.94253	CGC		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			10	18	0	0	0	1	0	10	18				
ARL11	115761	broad.mit.edu	37	13	50204664	50204664	+	Silent	SNP	G	G	A	rs557546186		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:50204664G>A	ENST00000282026.1	+	2	416	c.81G>A	c.(79-81)acG>acA	p.T27T	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	27					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCAAGACCACGCTCCTTTACA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16133	0.0		0.0	False		,,,				2504	0.001					ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(79-81)acG>acA		ADP-ribosylation factor-like 11							64.0	66.0	65.0					13																	50204664		2203	4300	6503	SO:0001819	synonymous_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204664G>A	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.81G>A	13.37:g.50204664G>A						ARL11_ENST00000490932.1_Intron	p.T27T	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	416	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	27						Silent	SNP	ENST00000282026.1	37	c.81G>A	CCDS9419.1																																																																																				0.592	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		24	25	0	0	0	1	0	24	25				
ZNF324	25799	broad.mit.edu	37	19	58981203	58981203	+	Missense_Mutation	SNP	G	G	A	rs543699538		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58981203G>A	ENST00000536459.2	+	3	939	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R77H|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TACAGGAGGCGCAACCCTGGT	0.622																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(229-231)cGc>cAc		zinc finger protein 324							41.0	29.0	33.0					19																	58981203		2202	4299	6501	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58981203G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.230G>A	19.37:g.58981203G>A	ENSP00000444812:p.Arg77His					ZNF324_ENST00000196482.3_Missense_Mutation_p.R77H	p.R77H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	939	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	77					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.230G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393948	0.42410	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459	T;T	0.05786	3.39;3.39	4.68	-6.05	0.02172	.	1.429250	0.04773	N	0.428426	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.32289	0.143	T	0.45556	-0.9253	10	0.30854	T	0.27	.	0.8609	0.01193	0.3488:0.1872:0.2844:0.1797	.	77	O75467	Z324A_HUMAN	H	77	ENSP00000196482:R77H;ENSP00000444812:R77H	ENSP00000196482:R77H	R	+	2	0	ZNF324	63673015	0.000000	0.05858	0.000000	0.03702	0.236000	0.25371	-0.390000	0.07332	-0.414000	0.07495	-0.291000	0.09656	CGC		0.622	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	2	0	0	0	1	0	3	2				
FSCN3	29999	broad.mit.edu	37	7	127235682	127235682	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127235682T>C	ENST00000265825.5	+	2	685	c.466T>C	c.(466-468)Tat>Cat	p.Y156H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.Y22H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	156						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCACCGCTGCTATGCCCGGGC	0.607																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(466-468)Tat>Cat		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							102.0	85.0	91.0					7																	127235682		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235682T>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.466T>C	7.37:g.127235682T>C	ENSP00000265825:p.Tyr156His					FSCN3_ENST00000420086.2_Missense_Mutation_p.Y22H	p.Y156H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	685	+			156					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.466T>C	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193425	0.78902	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.63913	0.6;-0.07	5.58	5.58	0.84498	Actin cross-linking (1);	0.111366	0.40908	D	0.000990	T	0.77082	0.4078	M	0.69823	2.125	0.39201	D	0.963136	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81015	-0.1124	10	0.87932	D	0	-34.0856	12.4349	0.55595	0.0:0.0:0.0:1.0	.	22;156	B4DU68;Q9NQT6	.;FSCN3_HUMAN	H	156;22	ENSP00000265825:Y156H;ENSP00000412243:Y22H	ENSP00000265825:Y156H	Y	+	1	0	FSCN3	127022918	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	4.908000	0.63307	2.250000	0.74265	0.528000	0.53228	TAT		0.607	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		14	23	0	0	0	1	0	14	23				
KIAA1551	55196	broad.mit.edu	37	12	32138302	32138302	+	Silent	SNP	C	C	T	rs138560989		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32138302C>T	ENST00000312561.4	+	4	4827	c.4413C>T	c.(4411-4413)aaC>aaT	p.N1471N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1471																	GTGTGAAAAACGTGCCATGTG	0.398																																						ENST00000312561.4																			0											c.(4411-4413)aaC>aaT		KIAA1551		T		1,4399		0,1,2199	57.0	59.0	58.0		4413	-6.8	0.0	12	dbSNP_134	58	0,8596		0,0,4298	no	coding-synonymous	C12orf35	NM_018169.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		1471/1748	32138302	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	55196							g.chr12:32138302C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4413C>T	12.37:g.32138302C>T						KIAA1551_ENST00000535596.1_Intron	p.N1471N	NM_018169.3	NP_060639.3					4	4827	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.4413C>T	CCDS8725.2																																																																																				0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		25	40	0	0	0	1	0	25	40				
ADAMTS4	9507	broad.mit.edu	37	1	161165296	161165296	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161165296C>T	ENST00000367996.5	-	4	1648	c.1220G>A	c.(1219-1221)tGc>tAc	p.C407Y	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	407	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCGGGCACTGCAGGGGGACCA	0.562																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1219-1221)tGc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 4							160.0	141.0	147.0					1																	161165296		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161165296C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1220G>A	1.37:g.161165296C>T	ENSP00000356975:p.Cys407Tyr					ADAMTS4_ENST00000478394.1_5'UTR	p.C407Y	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	1648	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		407			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1220G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681134	0.88542	.	.	ENSG00000158859	ENST00000367996	T	0.09911	2.93	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.246801	0.34555	N	0.003866	T	0.41971	0.1182	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62661	-0.6807	10	0.87932	D	0	.	16.7015	0.85350	0.0:1.0:0.0:0.0	.	407	O75173	ATS4_HUMAN	Y	407	ENSP00000356975:C407Y	ENSP00000356975:C407Y	C	-	2	0	ADAMTS4	159431920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.456000	0.83038	0.561000	0.74099	TGC		0.562	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		29	47	0	0	0	1	0	29	47				
CACNA1C	775	broad.mit.edu	37	12	2659184	2659184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:2659184G>A	ENST00000347598.4	+	10	1466	c.1466G>A	c.(1465-1467)tGc>tAc	p.C489Y	CACNA1C_ENST00000399601.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.C489Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.C514Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399634.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.C489Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	489					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGAAAACTGCGGGGCCAGG	0.597																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1465-1467)tGc>tAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						42.0	46.0	45.0					12																	2659184		2014	4176	6190	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2659184G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1466G>A	12.37:g.2659184G>A	ENSP00000266376:p.Cys489Tyr					CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.C514Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.C489Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.C489Y	p.C489Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	10	1731	+			489					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1466G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851644	0.71719	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	5.25	5.25	0.73442	.	0.565710	0.20526	N	0.090603	D	0.97188	0.9081	M	0.87758	2.905	0.80722	D	1	B;D;D;P;D;D;D;D;P;P;D;D;P;D;P;D;D;P;P;B;D;D;P;D;P;D	0.69078	0.334;0.995;0.986;0.932;0.997;0.991;0.986;0.991;0.812;0.889;0.991;0.986;0.917;0.984;0.947;0.984;0.962;0.917;0.82;0.402;0.986;0.98;0.82;0.986;0.589;0.986	B;P;P;P;D;D;P;D;P;P;D;P;P;D;B;P;B;P;P;B;P;P;P;P;B;P	0.83275	0.26;0.861;0.858;0.507;0.996;0.929;0.858;0.929;0.673;0.476;0.929;0.742;0.562;0.929;0.355;0.851;0.321;0.491;0.527;0.196;0.742;0.861;0.527;0.742;0.076;0.742	D	0.96966	0.9705	10	0.48119	T	0.1	.	19.2222	0.93801	0.0:0.0:1.0:0.0	.	118;489;486;489;489;489;489;489;489;489;489;489;460;489;489;489;489;489;489;489;489;489;489;489;489;489	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	514;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;489;330	ENSP00000336982:C514Y;ENSP00000382563:C489Y;ENSP00000437936:C489Y;ENSP00000382552:C489Y;ENSP00000382547:C489Y;ENSP00000382506:C489Y;ENSP00000382530:C489Y;ENSP00000382546:C489Y;ENSP00000382500:C489Y;ENSP00000382549:C489Y;ENSP00000266376:C489Y;ENSP00000382515:C489Y;ENSP00000382510:C489Y;ENSP00000341092:C489Y;ENSP00000382537:C489Y;ENSP00000329877:C489Y;ENSP00000382557:C489Y;ENSP00000385724:C489Y;ENSP00000382512:C489Y;ENSP00000382542:C489Y;ENSP00000382526:C489Y;ENSP00000385896:C489Y;ENSP00000382504:C489Y	ENSP00000323129:C330Y	C	+	2	0	CACNA1C	2529445	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.289000	0.96061	2.596000	0.87737	0.655000	0.94253	TGC		0.597	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	4	0	0	0	1	0	4	4				
ZNF184	7738	broad.mit.edu	37	6	27421019	27421019	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27421019T>C	ENST00000211936.6	-	6	603	c.319A>G	c.(319-321)Aat>Gat	p.N107D	ZNF184_ENST00000377419.1_Missense_Mutation_p.N107D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACACACTATTTTCAAGTCTT	0.363																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(319-321)Aat>Gat		zinc finger protein 184							48.0	51.0	50.0					6																	27421019		2201	4299	6500	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27421019T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.319A>G	6.37:g.27421019T>C	ENSP00000211936:p.Asn107Asp					ZNF184_ENST00000377419.1_Missense_Mutation_p.N107D	p.N107D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	603	-			107					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.319A>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627839	0.28978	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.06294	3.32;3.32	5.33	0.209	0.15226	.	0.379380	0.22866	N	0.054685	T	0.01029	0.0034	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47407	-0.9120	10	0.27785	T	0.31	.	5.305	0.15799	0.0:0.2244:0.14:0.6356	.	107	Q99676	ZN184_HUMAN	D	107	ENSP00000211936:N107D;ENSP00000366636:N107D	ENSP00000211936:N107D	N	-	1	0	ZNF184	27528998	0.004000	0.15560	0.007000	0.13788	0.605000	0.37080	0.084000	0.14891	-0.091000	0.12440	0.459000	0.35465	AAT		0.363	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		6	55	0	0	0	1	0	6	55				
MSX2	4488	broad.mit.edu	37	5	174156454	174156454	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:174156454C>T	ENST00000239243.6	+	2	799	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	224					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTCTCCCTTTCCCCATCAGCT	0.567																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(670-672)ttC>ttT		msh homeobox 2							64.0	62.0	63.0					5																	174156454		2203	4300	6503	SO:0001819	synonymous_variant	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156454C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.672C>T	5.37:g.174156454C>T							p.F224F	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	799	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	224					D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	c.672C>T	CCDS4392.1																																																																																				0.567	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			14	24	0	0	0	1	0	14	24				
PACS2	23241	broad.mit.edu	37	14	105849203	105849203	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105849203G>A	ENST00000325438.8	+	15	2070	c.1566G>A	c.(1564-1566)gcG>gcA	p.A522A	PACS2_ENST00000447393.1_Silent_p.A526A|PACS2_ENST00000458164.2_Silent_p.A526A|PACS2_ENST00000547217.1_Silent_p.A492A|PACS2_ENST00000430725.2_Silent_p.A447A|PACS2_ENST00000551743.1_5'Flank			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	522					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCTCCTGCGGACGTCCAGG	0.637																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1576-1578)gcG>gcA		phosphofurin acidic cluster sorting protein 2							80.0	68.0	72.0					14																	105849203		2202	4300	6502	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849203G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1566G>A	14.37:g.105849203G>A						PACS2_ENST00000547217.1_Silent_p.A492A|PACS2_ENST00000325438.8_Silent_p.A522A|PACS2_ENST00000430725.2_Silent_p.A447A|PACS2_ENST00000458164.2_Silent_p.A526A	p.A526A	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	15	1753	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	522					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.1578G>A	CCDS32168.1																																																																																				0.637	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		10	16	0	0	0	1	0	10	16				
PEAR1	375033	broad.mit.edu	37	1	156878721	156878721	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156878721C>G	ENST00000338302.3	+	12	1529	c.1304C>G	c.(1303-1305)gCt>gGt	p.A435G	PEAR1_ENST00000292357.7_Missense_Mutation_p.A435G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	435	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCACTGTGCTAGTCTTTGT	0.627																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1303-1305)gCt>gGt		platelet endothelial aggregation receptor 1							115.0	87.0	97.0					1																	156878721		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156878721C>G	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1304C>G	1.37:g.156878721C>G	ENSP00000344465:p.Ala435Gly					PEAR1_ENST00000292357.7_Missense_Mutation_p.A435G	p.A435G			Q5VY43	PEAR1_HUMAN			12	1529	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		435			EGF-like 5.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.1304C>G	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299613	0.40694	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33216	1.42;1.42	4.87	3.93	0.45458	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.299368	0.24052	N	0.041984	T	0.09423	0.0232	N	0.26130	0.795	0.32207	N	0.577034	P;B	0.38863	0.65;0.376	B;B	0.35899	0.213;0.164	T	0.09400	-1.0676	10	0.32370	T	0.25	.	12.036	0.53425	0.1739:0.8261:0.0:0.0	.	236;435	Q8N780;Q5VY43	.;PEAR1_HUMAN	G	435	ENSP00000344465:A435G;ENSP00000292357:A435G	ENSP00000292357:A435G	A	+	2	0	PEAR1	155145345	0.608000	0.26966	0.971000	0.41717	0.725000	0.41563	1.796000	0.38794	1.212000	0.43366	0.563000	0.77884	GCT		0.627	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		18	20	0	0	0	1	0	18	20				
INPP5D	3635	broad.mit.edu	37	2	234106794	234106794	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234106794T>C	ENST00000359570.5	+	27	2711	c.2711T>C	c.(2710-2712)aTg>aCg	p.M904T	INPP5D_ENST00000455936.2_Missense_Mutation_p.M668T|INPP5D_ENST00000450745.1_Missense_Mutation_p.M668T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	916					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCAACTACATGGGAGTGGGG	0.622																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2710-2712)aTg>aCg		inositol polyphosphate-5-phosphatase, 145kDa							23.0	26.0	25.0					2																	234106794		1974	4157	6131	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234106794T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2711T>C	2.37:g.234106794T>C	ENSP00000352575:p.Met904Thr					INPP5D_ENST00000455936.2_Missense_Mutation_p.M668T|INPP5D_ENST00000450745.1_Missense_Mutation_p.M668T	p.M904T			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	27	2711	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	916					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2711T>C		.	.	.	.	.	.	.	.	.	.	T	13.44	2.238766	0.39598	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96041	-3.84;-3.88;-3.88;-3.89;-3.89;-3.89	5.02	3.85	0.44370	.	0.469632	0.22163	N	0.063743	D	0.90950	0.7155	.	.	.	0.27326	N	0.956909	B;B	0.24823	0.066;0.112	B;B	0.24155	0.032;0.051	T	0.82532	-0.0410	9	0.33940	T	0.23	.	8.9125	0.35561	0.0:0.0855:0.0:0.9145	.	915;916	Q92835-2;Q92835	.;SHIP1_HUMAN	T	904;668;668;537;537;537;38	ENSP00000352575:M904T;ENSP00000407916:M668T;ENSP00000404610:M668T;ENSP00000400151:M537T;ENSP00000397421:M537T;ENSP00000405338:M537T	ENSP00000352575:M904T	M	+	2	0	INPP5D	233771533	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	4.039000	0.57325	0.853000	0.35312	0.533000	0.62120	ATG		0.622	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		9	11	0	0	0	1	0	9	11				
GLI1	2735	broad.mit.edu	37	12	57863392	57863392	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57863392G>A	ENST00000228682.2	+	11	1578	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	GLI1_ENST00000546141.1_Missense_Mutation_p.R455H|GLI1_ENST00000543426.1_Missense_Mutation_p.R368H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	496					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCACTCTTCGCCGCCTTGAG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1486-1488)cGc>cAc		GLI family zinc finger 1							95.0	84.0	88.0					12																	57863392		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57863392G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1487G>A	12.37:g.57863392G>A	ENSP00000228682:p.Arg496His					GLI1_ENST00000546141.1_Missense_Mutation_p.R455H|GLI1_ENST00000543426.1_Missense_Mutation_p.R368H	p.R496H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		11	1578	+			496					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1487G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472633	0.12461	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13089	2.73;2.62;2.7;2.7	4.62	3.73	0.42828	.	0.264036	0.27966	N	0.017140	T	0.07188	0.0182	N	0.12471	0.22	0.40916	D	0.984274	B	0.11235	0.004	B	0.06405	0.002	T	0.25779	-1.0122	10	0.14656	T	0.56	.	10.9553	0.47354	0.0919:0.0:0.9081:0.0	.	496	P08151	GLI1_HUMAN	H	368;496;455;455	ENSP00000437607:R368H;ENSP00000228682:R496H;ENSP00000441006:R455H;ENSP00000434408:R455H	ENSP00000228682:R496H	R	+	2	0	GLI1	56149659	0.900000	0.30661	0.995000	0.50966	0.013000	0.08279	1.082000	0.30803	1.298000	0.44778	-0.150000	0.13652	CGC		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		32	25	0	0	0	1	0	32	25				
DNAAF1	123872	broad.mit.edu	37	16	84203534	84203534	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84203534G>T	ENST00000378553.5	+	8	1224	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	DNAAF1_ENST00000334315.5_Missense_Mutation_p.G367V|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	367					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAGCCTCCCGGGGACAGAGAA	0.537																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1099-1101)gGg>gTg		dynein, axonemal, assembly factor 1							72.0	76.0	74.0					16																	84203534		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203534G>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1100G>T	16.37:g.84203534G>T	ENSP00000367815:p.Gly367Val					DNAAF1_ENST00000334315.5_Missense_Mutation_p.G367V|DNAAF1_ENST00000563818.1_3'UTR	p.G367V	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1224	+			367					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1100G>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035883	0.19590	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.32023	1.47;1.85	5.17	-5.92	0.02261	.	2.797760	0.01520	N	0.018304	T	0.12475	0.0303	N	0.08118	0	0.09310	N	0.999999	B;B	0.17667	0.023;0.007	B;B	0.15870	0.014;0.002	T	0.09122	-1.0689	10	0.29301	T	0.29	-0.0615	1.2055	0.01893	0.3799:0.3023:0.107:0.2107	.	131;367	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	V	367	ENSP00000334593:G367V;ENSP00000367815:G367V	ENSP00000334593:G367V	G	+	2	0	DNAAF1	82761035	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.513000	0.02256	-0.990000	0.03481	-0.195000	0.12781	GGG		0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		23	18	1	0	9.86323e-18	1	1.08645e-17	23	18				
PTPN1	5770	broad.mit.edu	37	20	49191125	49191125	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49191125A>G	ENST00000371621.3	+	5	600	c.426A>G	c.(424-426)ttA>ttG	p.L142L	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.L69L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	142	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	atttgaaattaacattgatct	0.358																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(424-426)ttA>ttG		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						98.0	96.0	97.0					20																	49191125		2203	4300	6503	SO:0001819	synonymous_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49191125A>G		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.426A>G	20.37:g.49191125A>G						PTPN1_ENST00000541713.1_Silent_p.L69L|RP4-530I15.9_ENST00000431019.1_RNA	p.L142L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			5	600	+		Lung NSC(126;0.163)	142			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	c.426A>G	CCDS13430.1																																																																																				0.358	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			18	36	0	0	0	1	0	18	36				
KIAA1598	57698	broad.mit.edu	37	10	118738784	118738784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118738784G>A	ENST00000355371.4	-	2	591	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.Q32*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	32					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTGTTTTCTGGTTCTCTGCT	0.398																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(94-96)Cag>Tag		KIAA1598							140.0	132.0	135.0					10																	118738784		2203	4300	6503	SO:0001587	stop_gained	57698				axon guidance	axon		g.chr10:118738784G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.94C>T	10.37:g.118738784G>A	ENSP00000347532:p.Gln32*					KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.Q32*|KIAA1598_ENST00000392901.4_5'UTR	p.Q32*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	2	591	-			32					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Nonsense_Mutation	SNP	ENST00000355371.4	37	c.94C>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	38	6.763208	0.97821	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371	.	.	.	6.07	5.11	0.69529	.	0.365309	0.28312	N	0.015806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0368	10.8897	0.46988	0.0:0.0:0.7708:0.2292	.	.	.	.	X	32	.	ENSP00000260777:Q32X	Q	-	1	0	KIAA1598	118728774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.289000	0.51747	2.885000	0.99019	0.655000	0.94253	CAG		0.398	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		15	26	0	0	0	1	0	15	26				
PPFIBP2	8495	broad.mit.edu	37	11	7672925	7672925	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7672925G>A	ENST00000299492.4	+	23	2674	c.2286G>A	c.(2284-2286)atG>atA	p.M762I	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.M619I|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.M650I|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.M604I|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	762	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCTGGCTATGCTTCTCAACA	0.562																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2284-2286)atG>atA		PTPRF interacting protein, binding protein 2 (liprin beta 2)							127.0	111.0	116.0					11																	7672925		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7672925G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2286G>A	11.37:g.7672925G>A	ENSP00000299492:p.Met762Ile					PPFIBP2_ENST00000530181.1_Missense_Mutation_p.M619I|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.M604I|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.M650I	p.M762I	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2674	+			762			SAM 3.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2286G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423291	0.83559	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.057275	0.64402	D	0.000001	T	0.46347	0.1388	N	0.08118	0	0.54753	D	0.999985	D;D;P;D;D;P	0.60575	0.986;0.985;0.928;0.987;0.988;0.948	D;P;P;P;D;P	0.74348	0.91;0.782;0.671;0.864;0.983;0.718	T	0.54323	-0.8311	10	0.54805	T	0.06	-19.7886	17.8364	0.88699	0.0:0.0:1.0:0.0	.	650;650;685;604;619;762	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	I	762;103;604;685;650;619	ENSP00000299492:M762I;ENSP00000436498:M604I;ENSP00000435469:M650I;ENSP00000437321:M619I	ENSP00000299492:M762I	M	+	3	0	PPFIBP2	7629501	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.891000	0.87319	2.884000	0.98904	0.655000	0.94253	ATG		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		35	47	0	0	0	1	0	35	47				
ASAP1	50807	broad.mit.edu	37	8	131136321	131136321	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:131136321A>G	ENST00000518721.1	-	18	1772	c.1545T>C	c.(1543-1545)ttT>ttC	p.F515F	ASAP1_ENST00000357668.1_Silent_p.F515F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	515	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAATATCATTAAAACTATTGT	0.328																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1543-1545)ttT>ttC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							98.0	110.0	106.0					8																	131136321		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131136321A>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1545T>C	8.37:g.131136321A>G						ASAP1_ENST00000518721.1_Silent_p.F515F	p.F515F			Q9ULH1	ASAP1_HUMAN			17	1572	-			515			Arf-GAP.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1545T>C	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330734	0.24167	.	.	ENSG00000153317	ENST00000524124	.	.	.	5.95	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5306	0.33333	0.8529:0.0:0.1471:0.0	.	.	.	.	Q	336	.	.	X	-	1	0	ASAP1	131205503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.145000	0.58065	1.078000	0.41014	0.533000	0.62120	TAA		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		13	27	0	0	0	1	0	13	27				
AXIN2	8313	broad.mit.edu	37	17	63554079	63554079	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63554079G>A	ENST00000375702.5	-	1	768	c.660C>T	c.(658-660)gtC>gtT	p.V220V	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Silent_p.V220V			Q9Y2T1	AXIN2_HUMAN	axin 2	220					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGCCACACACGACCTTTAGGC	0.483									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(658-660)gtC>gtT		axin 2							145.0	121.0	129.0					17																	63554079		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554079G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.660C>T	17.37:g.63554079G>A						AXIN2_ENST00000375702.5_Silent_p.V220V|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.V220V	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	973	-			220					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.660C>T																																																																																					0.483	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		34	45	0	0	0	1	0	34	45				
TGFB2	7042	broad.mit.edu	37	1	218578521	218578521	+	Silent	SNP	G	G	A	rs138514914	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:218578521G>A	ENST00000366930.4	+	2	824	c.357G>A	c.(355-357)ccG>ccA	p.P119P	TGFB2_ENST00000366929.4_Silent_p.P147P	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	119					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATGCCATCCCGCCCACTTTCT	0.403																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(439-441)ccG>ccA		transforming growth factor, beta 2		G	,	0,4406		0,0,2203	207.0	203.0	204.0		441,357	-0.2	1.0	1	dbSNP_134	204	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	,	147/443,119/415	218578521	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218578521G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.357G>A	1.37:g.218578521G>A						TGFB2_ENST00000366930.4_Silent_p.P119P	p.P147P	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	3	908	+			119					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.441G>A	CCDS1521.1																																																																																				0.403	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		86	102	0	0	0	1	0	86	102				
GPR148	344561	broad.mit.edu	37	2	131487316	131487316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131487316G>T	ENST00000309926.4	+	1	674	c.592G>T	c.(592-594)Gga>Tga	p.G198*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGAGGAGCAAGGAGCTTCATA	0.577																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(592-594)Gga>Tga		G protein-coupled receptor 148							104.0	100.0	102.0					2																	131487316		2203	4300	6503	SO:0001587	stop_gained	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487316G>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.592G>T	2.37:g.131487316G>T	ENSP00000308908:p.Gly198*						p.G198*	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	674	+	Colorectal(110;0.1)		198					Q2M369|Q86SP7|Q86U87	Nonsense_Mutation	SNP	ENST00000309926.4	37	c.592G>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583364	0.28268	.	.	ENSG00000173302	ENST00000309926	.	.	.	2.87	1.96	0.26148	.	1.958860	0.03947	U	0.287886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	0.0026	5.5362	0.17013	0.2895:0.0:0.7105:0.0	.	.	.	.	X	198	.	ENSP00000308908:G198X	G	+	1	0	GPR148	131203786	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.152000	0.10159	0.500000	0.27991	0.462000	0.41574	GGA		0.577	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		15	25	1	0	3.27435e-08	1	3.44876e-08	15	25				
CCDC103	388389	broad.mit.edu	37	17	42979959	42979959	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42979959G>A	ENST00000417826.2	+	4	598	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Missense_Mutation_p.C168Y|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	168					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				GGGATCCTATGCAGCCTGGCG	0.617																																						ENST00000417826.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(502-504)tGc>tAc		coiled-coil domain containing 103							49.0	55.0	53.0					17																	42979959		2203	4300	6503	SO:0001583	missense	388389							g.chr17:42979959G>A	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.503G>A	17.37:g.42979959G>A	ENSP00000391692:p.Cys168Tyr					CCDC103_ENST00000410006.2_Missense_Mutation_p.C168Y|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron	p.C168Y	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	598	+		Prostate(33;0.109)	168					A8K145|B8ZZU0	Missense_Mutation	SNP	ENST00000417826.2	37	c.503G>A	CCDS11490.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.490998	0.01009	.	.	ENSG00000167131	ENST00000357776;ENST00000417826;ENST00000410006	T;T;T	0.54279	0.58;0.58;0.58	6.16	-5.86	0.02304	.	1.037320	0.07712	U	0.942173	T	0.21674	0.0522	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.22152	0.038	T	0.41822	-0.9487	10	0.02654	T	1	-1.4044	9.8316	0.40946	0.6819:0.0:0.2205:0.0976	.	168	Q8IW40	CC103_HUMAN	Y	168	ENSP00000350420:C168Y;ENSP00000391692:C168Y;ENSP00000387252:C168Y	ENSP00000350420:C168Y	C	+	2	0	CCDC103	40335485	0.000000	0.05858	0.199000	0.23439	0.223000	0.24884	-0.912000	0.04046	-0.857000	0.04115	-0.157000	0.13467	TGC		0.617	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		16	35	0	0	0	1	0	16	35				
SSPO	23145	broad.mit.edu	37	7	149477549	149477549	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149477549C>T	ENST00000378016.2	+	0	1620							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACACCGTGCGCCAGCTGTGTA	0.642																																						ENST00000378016.2																			0													SCO-spondin							31.0	37.0	35.0					7																	149477549		2128	4237	6365			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477549C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477549C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	1620	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	12	0	0	0	1	0	9	12				
MPL	4352	broad.mit.edu	37	1	43812590	43812590	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43812590C>T	ENST00000372470.3	+	8	1335	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	MPL_ENST00000413998.2_Silent_p.G431G	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CAGGAGAAGGCCATCAGGACT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1291-1293)ggC>ggT		myeloproliferative leukemia virus oncogene							51.0	46.0	48.0					1																	43812590		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812590C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1293C>T	1.37:g.43812590C>T						MPL_ENST00000413998.2_Silent_p.G431G	p.G431G	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			8	1335	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	431			Fibronectin type-III 2.		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.1293C>T	CCDS483.1																																																																																				0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		19	22	0	0	0	1	0	19	22				
CPT2	1376	broad.mit.edu	37	1	53679043	53679043	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53679043A>G	ENST00000371486.3	+	5	2268	c.1753A>G	c.(1753-1755)Aat>Gat	p.N585D	C1orf123_ENST00000470385.1_5'Flank|RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	585					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GATAAACCACAATGTCCTGTC	0.552																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1753-1755)Aat>Gat		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						148.0	135.0	139.0					1																	53679043		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53679043A>G	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1753A>G	1.37:g.53679043A>G	ENSP00000360541:p.Asn585Asp					RP5-1024G6.2_ENST00000452466.1_RNA	p.N585D	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			5	2268	+			585					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1753A>G	CCDS575.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061600	0.76187	.	.	ENSG00000157184	ENST00000371486	D	0.96522	-4.04	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.64260	1.97	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.97109	0.9803	10	0.35671	T	0.21	-17.3929	16.3322	0.83039	1.0:0.0:0.0:0.0	.	585	P23786	CPT2_HUMAN	D	585	ENSP00000360541:N585D	ENSP00000360541:N585D	N	+	1	0	CPT2	53451631	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.253000	0.95501	2.251000	0.74343	0.528000	0.53228	AAT		0.552	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		35	83	0	0	0	1	0	35	83				
KY	339855	broad.mit.edu	37	3	134322744	134322744	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:134322744G>A	ENST00000423778.2	-	11	1724	c.1663C>T	c.(1663-1665)Ctt>Ttt	p.L555F	KY_ENST00000508956.1_Missense_Mutation_p.L534F|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	557					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCATACAAGGTAATTAAAG	0.512																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1600-1602)Ctt>Ttt		kyphoscoliosis peptidase							83.0	82.0	83.0					3																	134322744		1965	4157	6122	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322744G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1663C>T	3.37:g.134322744G>A	ENSP00000397598:p.Leu555Phe					KY_ENST00000423778.2_Missense_Mutation_p.L555F|KY_ENST00000503669.1_3'UTR	p.L534F			Q8NBH2	KY_HUMAN			10	1657	-			557					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1600C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971628	0.53614	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.29397	1.57;1.57	5.63	4.73	0.59995	.	.	.	.	.	T	0.39835	0.1093	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	T	0.48980	-0.8986	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.1316:0.8684:0.0	.	534;555	Q8NBH2-3;Q8NBH2-4	.;.	F	534;555	ENSP00000421297:L534F;ENSP00000397598:L555F	ENSP00000397598:L555F	L	-	1	0	KY	135805434	1.000000	0.71417	0.951000	0.38953	0.658000	0.38924	7.159000	0.77483	1.336000	0.45506	0.561000	0.74099	CTT		0.512	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		4	38	0	0	0	1	0	4	38				
DDHD1	80821	broad.mit.edu	37	14	53539389	53539389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53539389G>A	ENST00000323669.5	-	6	1428	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	DDHD1_ENST00000357758.3_Nonsense_Mutation_p.R477*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R484*	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	477					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTAAACCTCGTACTTTGTCA	0.343																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1429-1431)Cga>Tga		DDHD domain containing 1							121.0	109.0	113.0					14																	53539389		2203	4298	6501	SO:0001587	stop_gained	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53539389G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1429C>T	14.37:g.53539389G>A	ENSP00000327104:p.Arg477*					DDHD1_ENST00000323669.5_Nonsense_Mutation_p.R477*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R484*	p.R477*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			6	1612	-	Breast(41;0.037)		477					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	ENST00000323669.5	37	c.1429C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	39	7.627553	0.98399	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8465	19.839	0.96675	0.0:0.0:1.0:0.0	.	.	.	.	X	477;484;477;348	.	ENSP00000327104:R477X	R	-	1	2	DDHD1	52609139	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.120000	0.50430	2.865000	0.98341	0.655000	0.94253	CGA		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			59	92	0	0	0	1	0	59	92				
PTBP1	5725	broad.mit.edu	37	19	805040	805040	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:805040G>A	ENST00000349038.4	+	8	818	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A249T|PTBP1_ENST00000356948.6_Missense_Mutation_p.A249T|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	249	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CATCTACAACGCCTGCTGCAC	0.642																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(745-747)Gcc>Acc		polypyrimidine tract binding protein 1							126.0	104.0	112.0					19																	805040		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:805040G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.745G>A	19.37:g.805040G>A	ENSP00000014112:p.Ala249Thr					PTBP1_ENST00000394601.4_Missense_Mutation_p.A249T|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A249T	p.A249T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1168	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	249			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.745G>A	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439942	0.63067	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.43688	0.94;0.94;1.23	4.81	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.170380	0.51477	N	0.000092	T	0.33352	0.0860	N	0.24115	0.695	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.15484	0.012;0.011;0.013	T	0.15838	-1.0423	10	0.72032	D	0.01	-28.8682	16.8913	0.86088	0.0:0.0:1.0:0.0	.	249;249;249	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	T	249	ENSP00000349428:A249T;ENSP00000408096:A249T;ENSP00000014112:A249T	ENSP00000014112:A249T	A	+	1	0	PTBP1	756040	1.000000	0.71417	0.964000	0.40570	0.977000	0.68977	7.778000	0.85637	2.222000	0.72286	0.563000	0.77884	GCC		0.642	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			42	51	0	0	0	1	0	42	51				
ATP5C1	509	broad.mit.edu	37	10	7844330	7844330	+	Silent	SNP	C	C	A	rs199995607		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7844330C>A	ENST00000356708.7	+	7	814	c.735C>A	c.(733-735)tcC>tcA	p.S245S	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.S245S|ATP5C1_ENST00000541227.1_Silent_p.S198S	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	245					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGAAGGAGTCCACCACTAGTG	0.468																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(733-735)tcC>tcA		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							123.0	101.0	109.0					10																	7844330		2203	4300	6503	SO:0001819	synonymous_variant	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7844330C>A	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.735C>A	10.37:g.7844330C>A						ATP5C1_ENST00000541227.1_Silent_p.S198S|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Silent_p.S245S	p.S245S	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			7	814	+			245					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	c.735C>A	CCDS31142.1																																																																																				0.468	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		11	27	1	0	3.86212e-05	1	3.97146e-05	11	27				
CYP4A22	284541	broad.mit.edu	37	1	47610124	47610124	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47610124C>T	ENST00000371891.3	+	7	917	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L296F|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P244L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	296						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACATCCTCCTCTTGGCCAA	0.507																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(886-888)Ctc>Ttc		cytochrome P450, family 4, subfamily A, polypeptide 22							143.0	135.0	138.0					1																	47610124		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610124C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.886C>T	1.37:g.47610124C>T	ENSP00000360958:p.Leu296Phe					CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P244L|CYP4A22_ENST00000294337.3_Missense_Mutation_p.L296F|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.L296F	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			7	917	+			296					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.886C>T	CCDS30707.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.24|14.24	2.476889|2.476889	0.44044|0.44044	.|.	.|.	ENSG00000162365|ENSG00000162365	ENST00000371891;ENST00000294337|ENST00000371890	T;T|T	0.75589|0.71934	-0.95;-0.95|-0.61	1.51|1.51	1.51|1.51	0.23008|0.23008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73016|0.73016	0.3533|0.3533	M|M	0.88377|0.88377	2.95|2.95	0.53005|0.53005	D|D	0.999969|0.999969	D|B	0.56287|0.10296	0.975|0.003	P|B	0.55011|0.01281	0.766|0.0	T|T	0.75107|0.75107	-0.3434|-0.3434	10|9	0.87932|0.87932	D|D	0|0	.|.	11.2947|11.2947	0.49272|0.49272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	296|244	Q5TCH4|Q5TCH5	CP4AM_HUMAN|.	F|L	296|244	ENSP00000360958:L296F;ENSP00000294337:L296F|ENSP00000360957:P244L	ENSP00000294337:L296F|ENSP00000360957:P244L	L|P	+|+	1|2	0|0	CYP4A22|CYP4A22	47382711|47382711	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.361000|0.361000	0.29550|0.29550	5.203000|5.203000	0.65174|0.65174	0.842000|0.842000	0.35045|0.35045	0.194000|0.194000	0.17425|0.17425	CTC|CCT		0.507	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		23	54	0	0	0	1	0	23	54				
ZNF692	55657	broad.mit.edu	37	1	249150039	249150039	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249150039G>A	ENST00000306601.4	-	7	932	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.P211S|ZNF692_ENST00000451251.1_Missense_Mutation_p.P261S|ZNF692_ENST00000366469.5_Missense_Mutation_p.P255S|ZNF692_ENST00000427146.1_Missense_Mutation_p.P211S	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GACAAGGCCGGCACAGCAAGA	0.622																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(781-783)Ccg>Tcg		zinc finger protein 692							71.0	73.0	72.0					1																	249150039		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150039G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.766C>T	1.37:g.249150039G>A	ENSP00000305483:p.Pro256Ser					ZNF692_ENST00000366469.5_Missense_Mutation_p.P255S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Missense_Mutation_p.P211S|ZNF692_ENST00000366471.3_Missense_Mutation_p.P211S|ZNF692_ENST00000306601.4_Missense_Mutation_p.P256S	p.P261S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1126	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	256					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.781C>T	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.421|9.421	1.083128|1.083128	0.20309|0.20309	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	.|T;T;T;T;T	.|0.09538	.|2.99;3.14;3.14;2.98;2.97	4.24|4.24	3.24|3.24	0.37175|0.37175	.|.	.|0.588598	.|0.15103	.|N	.|0.280393	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.40543|0.40543	1.245|1.245	0.25231|0.25231	N|N	0.98983|0.98983	.|P;P;P	.|0.37330	.|0.455;0.59;0.455	.|B;B;B	.|0.34824	.|0.134;0.19;0.134	T|T	0.14755|0.14755	-1.0461|-1.0461	5|10	.|0.07813	.|T	.|0.8	-1.1134|-1.1134	11.9684|11.9684	0.53049|0.53049	0.0:0.1773:0.8227:0.0|0.0:0.1773:0.8227:0.0	.|.	.|261;211;256	.|B4DXZ0;Q9BU19-2;Q9BU19	.|.;.;ZN692_HUMAN	V|S	35|256;211;211;255;261	.|ENSP00000305483:P256S;ENSP00000390044:P211S;ENSP00000355427:P211S;ENSP00000355425:P255S;ENSP00000391200:P261S	.|ENSP00000305483:P256S	A|P	-|-	2|1	0|0	ZNF692|ZNF692	247116662|247116662	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.256000|0.256000	0.26092|0.26092	0.236000|0.236000	0.17967|0.17967	2.355000|2.355000	0.79922|0.79922	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.622	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		17	16	0	0	0	1	0	17	16				
RBM48	84060	broad.mit.edu	37	7	92163971	92163971	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92163971T>C	ENST00000265732.5	+	4	745	c.704T>C	c.(703-705)aTg>aCg	p.M235T	RBM48_ENST00000481551.1_Missense_Mutation_p.M235T	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	235						nucleus (GO:0005634)	RNA binding (GO:0003723)										CATAAAACAATGGGGCATTAT	0.428																																						ENST00000481551.1																			0											c.(703-705)aTg>aCg		RNA binding motif protein 48							112.0	98.0	102.0					7																	92163971		1897	4110	6007	SO:0001583	missense	84060						nucleotide binding	g.chr7:92163971T>C	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.704T>C	7.37:g.92163971T>C	ENSP00000265732:p.Met235Thr					RBM48_ENST00000265732.5_Missense_Mutation_p.M235T	p.M235T			Q5RL73	CG064_HUMAN			4	745	+			235					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.704T>C	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	T	5.056	0.196021	0.09599	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.19	0.0465	0.14256	.	1.953000	0.01750	N	0.029843	T	0.33000	0.0848	L	0.48362	1.52	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.14023	0.007;0.01	T	0.04579	-1.0941	9	0.24483	T	0.36	-6.2564	0.9592	0.01392	0.1571:0.2959:0.1631:0.3839	.	235;235	B7Z2K5;Q5RL73	.;CG064_HUMAN	T	235	.	ENSP00000265732:M235T	M	+	2	0	C7orf64	92001907	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.116000	0.15561	-0.123000	0.11745	0.482000	0.46254	ATG		0.428	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		21	34	0	0	0	1	0	21	34				
TRIM37	4591	broad.mit.edu	37	17	57126630	57126630	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57126630A>G	ENST00000262294.7	-	15	1698	c.1439T>C	c.(1438-1440)aTg>aCg	p.M480T	TRIM37_ENST00000393065.2_Missense_Mutation_p.M446T|TRIM37_ENST00000393066.3_Missense_Mutation_p.M480T|TRIM37_ENST00000376149.3_Missense_Mutation_p.M358T	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	480					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCGAGAAGCATGTCAGAGCA	0.433									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1072-1074)aTg>aCg		tripartite motif containing 37							150.0	128.0	135.0					17																	57126630		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57126630A>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1439T>C	17.37:g.57126630A>G	ENSP00000262294:p.Met480Thr					TRIM37_ENST00000393066.3_Missense_Mutation_p.M480T|TRIM37_ENST00000262294.7_Missense_Mutation_p.M480T|TRIM37_ENST00000393065.2_Missense_Mutation_p.M446T	p.M358T			O94972	TRI37_HUMAN			15	1882	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		480			MATH.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1073T>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842163	0.32513	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.62498	1.78;1.78;0.02;1.39	5.26	4.17	0.49024	.	0.422352	0.23922	N	0.043221	T	0.35856	0.0946	N	0.08118	0	0.28946	N	0.89068	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21690	-1.0238	10	0.09843	T	0.71	-18.7877	8.8919	0.35439	0.8343:0.0:0.1657:0.0	.	446;358;480	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	T	480;480;358;446	ENSP00000376785:M480T;ENSP00000262294:M480T;ENSP00000365319:M358T;ENSP00000376784:M446T	ENSP00000262294:M480T	M	-	2	0	TRIM37	54481412	0.355000	0.24921	0.998000	0.56505	0.881000	0.50899	1.284000	0.33249	0.825000	0.34637	0.459000	0.35465	ATG		0.433	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		25	83	0	0	0	1	0	25	83				
TTN	7273	broad.mit.edu	37	2	179579944	179579944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179579944C>A	ENST00000591111.1	-	88	25242	c.25018G>T	c.(25018-25020)Gga>Tga	p.G8340*	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G7413*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.G8657*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12515	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAGCTCCTTTCAGTGTC	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25969-25971)Gga>Tga		titin							163.0	147.0	152.0					2																	179579944		1862	4104	5966	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579944C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25018G>T	2.37:g.179579944C>A	ENSP00000465570:p.Gly8340*					TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.G8340*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.G7413*|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G8657*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26193	-			8340			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.25969G>T		.	.	.	.	.	.	.	.	.	.	C	59	36.978237	0.99984	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.62	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0775	0.48040	0.1287:0.8043:0.0:0.067	.	.	.	.	X	7413	.	ENSP00000343764:G7413X	G	-	1	0	TTN	179288189	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.089000	0.71384	0.731000	0.32448	0.655000	0.94253	GGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	52	1	0	7.68411e-24	1	8.5683e-24	32	52				
TFCP2	7024	broad.mit.edu	37	12	51512418	51512418	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51512418G>A	ENST00000257915.5	-	2	718	c.260C>T	c.(259-261)aCg>aTg	p.T87M	TFCP2_ENST00000549867.1_Missense_Mutation_p.T87M|TFCP2_ENST00000548115.1_Missense_Mutation_p.T87M|TFCP2_ENST00000307660.4_Missense_Mutation_p.T87M	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	87					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATTGAGATACGTTAGGGTTTC	0.383																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(259-261)aCg>aTg		transcription factor CP2							165.0	154.0	158.0					12																	51512418		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51512418G>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.260C>T	12.37:g.51512418G>A	ENSP00000257915:p.Thr87Met					TFCP2_ENST00000257915.5_Missense_Mutation_p.T87M|TFCP2_ENST00000548115.1_Missense_Mutation_p.T87M|TFCP2_ENST00000549867.1_Missense_Mutation_p.T87M	p.T87M	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			2	980	-			87					A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.260C>T	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093340	0.76756	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.66	4.77	0.60923	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.998	T	0.71682	-0.4519	10	0.87932	D	0	-12.7359	13.9833	0.64317	0.0745:0.0:0.9255:0.0	.	87;87;87;87	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	M	87	ENSP00000257915:T87M;ENSP00000304411:T87M;ENSP00000449742:T87M;ENSP00000447991:T87M	ENSP00000257915:T87M	T	-	2	0	TFCP2	49798685	1.000000	0.71417	0.892000	0.35008	0.824000	0.46624	9.755000	0.98912	1.541000	0.49316	0.591000	0.81541	ACG		0.383	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		24	37	0	0	0	1	0	24	37				
MGAT2	4247	broad.mit.edu	37	14	50088160	50088160	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50088160C>A	ENST00000305386.2	+	1	672	c.174C>A	c.(172-174)ccC>ccA	p.P58P	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	58					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGGACCACCCCTCTGTGGCTG	0.726																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(172-174)ccC>ccA		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							13.0	15.0	14.0					14																	50088160		2175	4257	6432	SO:0001819	synonymous_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088160C>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.174C>A	14.37:g.50088160C>A						RP11-649E7.5_ENST00000555043.1_RNA	p.P58P	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	672	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		58					B3KPC5|B3KQM0	Silent	SNP	ENST00000305386.2	37	c.174C>A	CCDS9690.1																																																																																				0.726	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		7	15	1	0	0.0293803	1	0.0295506	7	15				
ERCC6L2	375748	broad.mit.edu	37	9	98774580	98774580	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:98774580G>A	ENST00000407474.3	+	4	1204	c.691G>A	c.(691-693)Gcc>Acc	p.A231T				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1261	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TATAACCAATGCCACATCAGA	0.318																																						ENST00000407474.3																			0											c.(691-693)Gcc>Acc		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							51.0	50.0	51.0					9																	98774580		2202	4297	6499	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98774580G>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.691G>A	9.37:g.98774580G>A	ENSP00000384365:p.Ala231Thr						p.A231T			Q5T890	RAD26_HUMAN			4	1204	+			0			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.691G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.542525|4.542525	0.85917|0.85917	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000407474|ENST00000320486	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.50627|.	D|.	0.000120|.	T|T	0.54515|0.54515	0.1863|0.1863	.|.	.|.	.|.	0.27722|0.27722	N|N	0.945084|0.945084	D|.	0.71674|.	0.998|.	D|.	0.63113|.	0.911|.	T|T	0.49790|0.49790	-0.8902|-0.8902	8|4	0.42905|.	T|.	0.14|.	.|.	18.309|18.309	0.90192|0.90192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231|.	A4D997|.	CI102_HUMAN|.	T|I	231|221	.|.	ENSP00000384365:A231T|.	A|M	+|+	1|3	0|0	C9orf102|C9orf102	97814401|97814401	0.988000|0.988000	0.35896|0.35896	0.926000|0.926000	0.36857|0.36857	0.962000|0.962000	0.63368|0.63368	2.275000|2.275000	0.43399|0.43399	2.553000|2.553000	0.86117|0.86117	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.318	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		8	16	0	0	0	1	0	8	16				
ADI1	55256	broad.mit.edu	37	2	3504604	3504604	+	Missense_Mutation	SNP	C	C	T	rs147446974		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3504604C>T	ENST00000327435.6	-	3	649	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ADI1_ENST00000382093.5_Missense_Mutation_p.R128H	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CACCGTGAAGCGGTGATAGAT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17899	0.001		0.0	False		,,,				2504	0.0					ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(382-384)cGc>cAc		acireductone dioxygenase 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	135.0	108.0	117.0		401	4.7	1.0	2	dbSNP_134	117	0,8600		0,0,4300	no	missense	ADI1	NM_018269.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	134/180	3504604	2,13004	2203	4300	6503	SO:0001583	missense	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504604C>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.401G>A	2.37:g.3504604C>T	ENSP00000333666:p.Arg134His					ADI1_ENST00000327435.6_Missense_Mutation_p.R134H	p.R128H			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	3220	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		134						Missense_Mutation	SNP	ENST00000327435.6	37	c.383G>A	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498839	0.64298	4.54E-4	0.0	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.73	4.73	0.59995	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	H	0.97023	3.925	0.80722	D	1	D	0.65815	0.995	P	0.52343	0.696	D	0.90135	0.4209	9	0.72032	D	0.01	-22.0147	16.6473	0.85179	0.0:1.0:0.0:0.0	.	134	Q9BV57	MTND_HUMAN	H	134;128	.	ENSP00000333666:R134H	R	-	2	0	ADI1	3483611	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	7.311000	0.78958	2.339000	0.79563	0.655000	0.94253	CGC		0.637	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		3	8	0	0	0	1	0	3	8				
TBC1D16	125058	broad.mit.edu	37	17	77926467	77926467	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77926467G>A	ENST00000310924.2	-	4	1045	c.930C>T	c.(928-930)cgC>cgT	p.R310R	TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000576768.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	310							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGAAGAAAAGGCGGAGGGAGC	0.662																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(928-930)cgC>cgT		TBC1 domain family, member 16							29.0	35.0	33.0					17																	77926467		2203	4300	6503	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77926467G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.930C>T	17.37:g.77926467G>A							p.R310R	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		4	1045	-	all_neural(118;0.167)		310					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.930C>T	CCDS11766.1																																																																																				0.662	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		4	22	0	0	0	1	0	4	22				
CCDC180	100499483	broad.mit.edu	37	9	100126320	100126320	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100126320C>A	ENST00000357054.1	+	41	4792	c.3857C>A	c.(3856-3858)cCt>cAt	p.P1286H	CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000529487.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1286						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACCCACCCACCTTTGTCCCAC	0.617																																						ENST00000357054.1																			0											c.(3856-3858)cCt>cAt		coiled-coil domain containing 180							90.0	74.0	80.0					9																	100126320		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100126320C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3857C>A	9.37:g.100126320C>A	ENSP00000349562:p.Pro1286His					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Intron|CCDC180_ENST00000375202.2_Intron	p.P1286H							41	4792	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.3857C>A		.	.	.	.	.	.	.	.	.	.	C	16.61	3.170779	0.57584	.	.	ENSG00000197816	ENST00000357054	T	0.08370	3.1	3.97	2.13	0.27403	.	.	.	.	.	T	0.13200	0.0320	.	.	.	0.09310	N	0.999991	P	0.52842	0.956	P	0.54759	0.76	T	0.15178	-1.0446	8	0.36615	T	0.2	.	6.1268	0.20184	0.0:0.7714:0.0:0.2286	.	1286	Q9P1Z9	CI174_HUMAN	H	1286	ENSP00000349562:P1286H	ENSP00000349562:P1286H	P	+	2	0	C9orf174	99166141	0.130000	0.22417	0.163000	0.22734	0.300000	0.27592	0.245000	0.18142	0.642000	0.30620	0.655000	0.94253	CCT		0.617	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		11	18	1	0	6.40141e-05	1	6.5734e-05	11	18				
ZNF599	148103	broad.mit.edu	37	19	35250255	35250255	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35250255C>T	ENST00000329285.8	-	4	1824	c.1451G>A	c.(1450-1452)tGt>tAt	p.C484Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGCTTTTGCACATTCTTTGCA	0.423																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(1450-1452)tGt>tAt		zinc finger protein 599							124.0	126.0	125.0					19																	35250255		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250255C>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1451G>A	19.37:g.35250255C>T	ENSP00000333802:p.Cys484Tyr						p.C484Y	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1824	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		484					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.1451G>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301887	0.60195	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	D	0.85861	-2.04	2.67	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93307	0.7867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94090	0.7352	9	0.87932	D	0	.	11.4934	0.50394	0.0:1.0:0.0:0.0	.	484	Q96NL3	ZN599_HUMAN	Y	483;484;258	ENSP00000333802:C484Y	ENSP00000333802:C484Y	C	-	2	0	ZNF599	39942095	0.997000	0.39634	0.832000	0.32986	0.961000	0.63080	5.024000	0.64090	1.807000	0.52817	0.591000	0.81541	TGT		0.423	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		4	126	0	0	0	1	0	4	126				
BRWD1	54014	broad.mit.edu	37	21	40568702	40568702	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40568702C>T	ENST00000333229.2	-	41	6620	c.6293G>A	c.(6292-6294)gGc>gAc	p.G2098D	BRWD1_ENST00000342449.3_Missense_Mutation_p.G2098D|BRWD1_ENST00000380800.3_Missense_Mutation_p.G2098D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2098					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGTCTTCTGCCATTCCACCT	0.418																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6292-6294)gGc>gAc		bromodomain and WD repeat domain containing 1							172.0	165.0	167.0					21																	40568702		2203	4298	6501	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568702C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6293G>A	21.37:g.40568702C>T	ENSP00000330753:p.Gly2098Asp					BRWD1_ENST00000380800.3_Missense_Mutation_p.G2098D|BRWD1_ENST00000333229.2_Missense_Mutation_p.G2098D	p.G2098D	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			41	6371	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2098					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6293G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798251	0.50208	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.52;0.48;0.61	5.53	4.64	0.57946	.	0.372309	0.26460	N	0.024256	T	0.42562	0.1208	L	0.51914	1.62	0.80722	D	1	B;B	0.14438	0.01;0.006	B;B	0.16722	0.016;0.007	T	0.42378	-0.9455	10	0.41790	T	0.15	-3.3483	5.5222	0.16939	0.0:0.6483:0.1867:0.1649	.	2098;2098	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	D	2098	ENSP00000330753:G2098D;ENSP00000344333:G2098D;ENSP00000370178:G2098D	ENSP00000330753:G2098D	G	-	2	0	BRWD1	39490572	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.941000	0.29005	2.596000	0.87737	0.655000	0.94253	GGC		0.418	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		57	37	0	0	0	1	0	57	37				
CAPN2	824	broad.mit.edu	37	1	223962541	223962541	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223962541C>A	ENST00000295006.5	+	21	2394	c.2085C>A	c.(2083-2085)ctC>ctA	p.L695L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L617L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	695	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CACAGTGGCTCTGTTTCTCAG	0.358																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(2083-2085)ctC>ctA		calpain 2, (m/II) large subunit							83.0	85.0	85.0					1																	223962541		2202	4300	6502	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223962541C>A	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.2085C>A	1.37:g.223962541C>A						CAPN2_ENST00000433674.2_Silent_p.L617L|CAPN2_ENST00000474026.1_3'UTR	p.L695L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	21	2394	+			695			Domain IV.|EF-hand 3.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.2085C>A	CCDS31035.1																																																																																				0.358	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		21	32	1	0	3.51602e-12	1	3.7986e-12	21	32				
SDHA	6389	broad.mit.edu	37	5	228319	228319	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:228319G>A	ENST00000264932.6	+	6	756	c.641G>A	c.(640-642)aGc>aAc	p.S214N	SDHA_ENST00000510361.1_Missense_Mutation_p.S166N|SDHA_ENST00000504309.1_Missense_Mutation_p.S214N	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	214					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TATGATACCAGCTATTTTGTG	0.438									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(640-642)aGc>aAc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						67.0	69.0	68.0					5																	228319		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	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	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228319G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.641G>A	5.37:g.228319G>A	ENSP00000264932:p.Ser214Asn					SDHA_ENST00000510361.1_Missense_Mutation_p.S166N|SDHA_ENST00000504309.1_Missense_Mutation_p.S214N	p.S214N	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	756	+			214					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.641G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552261	0.13374	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70045	-0.45;-0.45;-0.45	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.051707	0.85682	U	0.000000	T	0.41696	0.1170	N	0.04297	-0.235	0.58432	D	0.999996	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.001	T	0.43589	-0.9382	10	0.02654	T	1	.	16.7213	0.85410	0.0:0.0:1.0:0.0	.	166;214;214;214;220	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	N	214;214;166	ENSP00000264932:S214N;ENSP00000426514:S214N;ENSP00000427703:S166N	ENSP00000264932:S214N	S	+	2	0	SDHA	281319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.633000	0.89246	0.644000	0.83932	AGC		0.438	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		19	31	0	0	0	1	0	19	31				
SLC1A4	6509	broad.mit.edu	37	2	65243578	65243578	+	Missense_Mutation	SNP	G	G	A	rs147292530		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:65243578G>A	ENST00000234256.3	+	5	1048	c.805G>A	c.(805-807)Gta>Ata	p.V269I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	269					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCCTAGGTACGTACCTGTGGG	0.517																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(805-807)Gta>Ata		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	G	,ILE/VAL	0,4406		0,0,2203	152.0	129.0	137.0		,805	5.8	0.5	2	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	SLC1A4	NM_001193493.1,NM_003038.4	,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,269/533	65243578	1,13005	2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243578G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.805G>A	2.37:g.65243578G>A	ENSP00000234256:p.Val269Ile					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	p.V269I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1048	+			269					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.805G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058441	0.55325	0.0	1.16E-4	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.59224	0.28	5.83	5.83	0.93111	.	0.102547	0.64402	D	0.000003	T	0.55986	0.1955	L	0.55481	1.735	0.58432	D	0.999998	B;B	0.27416	0.178;0.178	B;B	0.21708	0.022;0.036	T	0.49244	-0.8960	10	0.31617	T	0.26	-48.0645	20.5632	0.99335	0.0:0.0:1.0:0.0	.	269;269	P43007;B2R7N6	SATT_HUMAN;.	I	189;269	ENSP00000234256:V269I	ENSP00000234256:V269I	V	+	1	0	SLC1A4	65097082	1.000000	0.71417	0.487000	0.27428	0.942000	0.58702	7.728000	0.84847	2.937000	0.99478	0.650000	0.86243	GTA		0.517	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		13	43	0	0	0	1	0	13	43				
ENOX1	55068	broad.mit.edu	37	13	43986126	43986126	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:43986126G>T	ENST00000261488.6	-	5	711	c.134C>A	c.(133-135)cCc>cAc	p.P45H	ENOX1_ENST00000412891.1_Missense_Mutation_p.P45H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	45					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCAGGCTGTGGGATCTGTCAC	0.522																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(133-135)cCc>cAc		ecto-NOX disulfide-thiol exchanger 1							136.0	116.0	123.0					13																	43986126		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986126G>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.134C>A	13.37:g.43986126G>T	ENSP00000261488:p.Pro45His					ENOX1_ENST00000412891.1_Missense_Mutation_p.P45H	p.P45H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	5	711	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	45					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.134C>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293191	0.80914	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.47869	0.83;0.83	5.62	5.62	0.85841	.	0.117144	0.64402	D	0.000020	T	0.38639	0.1048	N	0.11427	0.14	0.80722	D	1	P	0.40230	0.708	B	0.43701	0.428	T	0.35475	-0.9787	10	0.48119	T	0.1	-15.3165	19.0063	0.92852	0.0:0.0:1.0:0.0	.	45	Q8TC92	ENOX1_HUMAN	H	45	ENSP00000261488:P45H;ENSP00000415054:P45H	ENSP00000261488:P45H	P	-	2	0	ENOX1	42884126	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.145000	0.77365	2.809000	0.96659	0.467000	0.42956	CCC		0.522	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		26	21	1	0	7.38237e-10	1	7.86209e-10	26	21				
LYST	1130	broad.mit.edu	37	1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5152-5154)Cga>Tga		lysosomal trafficking regulator							35.0	38.0	37.0					1																	235944227		2202	4300	6502	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944227G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*					LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR	p.R1718*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5326	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1718					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5152C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	49	0	0	0	1	0	5	49				
SCN2A	6326	broad.mit.edu	37	2	166245293	166245293	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166245293G>A	ENST00000375437.2	+	27	5267	c.4977G>A	c.(4975-4977)gcG>gcA	p.A1659A	SCN2A_ENST00000375427.2_Silent_p.A1659A|SCN2A_ENST00000283256.6_Silent_p.A1659A|SCN2A_ENST00000357398.3_Silent_p.A1659A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTTCCTGCGTTGTTTAACA	0.493																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4975-4977)gcG>gcA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						138.0	132.0	134.0					2																	166245293		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245293G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4977G>A	2.37:g.166245293G>A						SCN2A_ENST00000375427.2_Silent_p.A1659A|SCN2A_ENST00000283256.6_Silent_p.A1659A|SCN2A_ENST00000375437.2_Silent_p.A1659A	p.A1659A			Q99250	SCN2A_HUMAN			27	5267	+			1659					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.4977G>A	CCDS33314.1																																																																																				0.493	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		39	49	0	0	0	1	0	39	49				
CYFIP1	23191	broad.mit.edu	37	15	22935875	22935875	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22935875C>A	ENST00000313077.7	+	9	936	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L271M	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGGATTTGGTCTGTACCTGAT	0.393																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(811-813)Ctg>Atg		cytoplasmic FMR1 interacting protein 1							211.0	187.0	195.0					15																	22935875		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22935875C>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.811C>A	15.37:g.22935875C>A	ENSP00000324549:p.Leu271Met					CYFIP1_ENST00000560848.1_Missense_Mutation_p.L271M	p.L271M	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	9	936	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	271						Missense_Mutation	SNP	ENST00000313077.7	37	c.811C>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875155	0.51695	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.45276	0.9	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000034	T	0.60274	0.2256	M	0.61703	1.905	0.80722	D	1	D;P	0.71674	0.998;0.605	D;B	0.75484	0.986;0.332	T	0.59252	-0.7489	10	0.48119	T	0.1	-11.8641	13.2543	0.60070	0.0:0.9178:0.0:0.0822	.	299;271	E7EQ04;Q7L576	.;CYFP1_HUMAN	M	271;299	ENSP00000324549:L271M	ENSP00000324549:L271M	L	+	1	2	CYFIP1	20487316	0.505000	0.26131	0.952000	0.39060	0.996000	0.88848	0.978000	0.29488	2.619000	0.88677	0.555000	0.69702	CTG		0.393	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		5	50	1	0	0.00198382	1	0.0020125	5	50				
SOX3	6658	broad.mit.edu	37	X	139587164	139587164	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:139587164G>A	ENST00000370536.2	-	1	61	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	21					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AATGCTCCGCGCCAAATCAGC	0.622																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(61-63)gCg>gTg		SRY (sex determining region Y)-box 3							11.0	11.0	11.0					X																	139587164		2192	4274	6466	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139587164G>A		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.62C>T	X.37:g.139587164G>A	ENSP00000359567:p.Ala21Val						p.A21V	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	61	-	Acute lymphoblastic leukemia(192;7.65e-05)		21					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.62C>T	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	8.181	0.793926	0.16327	.	.	ENSG00000134595	ENST00000370536	D	0.98090	-4.71	3.01	1.12	0.20585	.	.	.	.	.	D	0.91915	0.7440	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.83138	-0.0110	8	.	.	.	.	3.0827	0.06267	0.1535:0.0:0.5835:0.263	.	21	P41225	SOX3_HUMAN	V	21	ENSP00000359567:A21V	.	A	-	2	0	SOX3	139414830	0.072000	0.21174	0.008000	0.14137	0.054000	0.15201	0.072000	0.14617	0.168000	0.19655	0.525000	0.51046	GCG		0.622	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	0	0	0	0	1	0	5	0				
NOTCH4	4855	broad.mit.edu	37	6	32188977	32188977	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32188977G>A	ENST00000375023.3	-	4	715	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	193					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R193C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTGACATCACGTTCACAGGCA	0.617																																						ENST00000375023.3																			1	Substitution - Missense(1)	p.R193C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(577-579)Cgt>Tgt		notch 4							73.0	67.0	69.0					6																	32188977		1510	2708	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188977G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.577C>T	6.37:g.32188977G>A	ENSP00000364163:p.Arg193Cys						p.R193C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			4	715	-			193					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.577C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864237	0.51482	.	.	ENSG00000204301	ENST00000375023	T	0.09817	2.94	4.44	4.44	0.53790	.	0.526040	0.15762	N	0.245875	T	0.11196	0.0273	L	0.45352	1.415	0.35512	D	0.80071	D;D	0.71674	0.998;0.986	P;B	0.53360	0.724;0.17	T	0.02603	-1.1135	10	0.66056	D	0.02	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	193;193	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	193	ENSP00000364163:R193C	ENSP00000364163:R193C	R	-	1	0	NOTCH4	32296955	0.418000	0.25440	0.199000	0.23439	0.886000	0.51366	3.468000	0.53086	2.299000	0.77371	0.561000	0.74099	CGT		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			10	20	0	0	0	1	0	10	20				
P4HA3	283208	broad.mit.edu	37	11	74009328	74009328	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74009328C>T	ENST00000331597.4	-	4	691	c.646G>A	c.(646-648)Gga>Aga	p.G216R	P4HA3_ENST00000427714.2_Missense_Mutation_p.G216R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	216						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTCCACTCTCCGTAAGATCCT	0.493																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(646-648)Gga>Aga		prolyl 4-hydroxylase, alpha polypeptide III							119.0	107.0	111.0					11																	74009328		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74009328C>T	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.646G>A	11.37:g.74009328C>T	ENSP00000332170:p.Gly216Arg					P4HA3_ENST00000427714.2_Missense_Mutation_p.G216R	p.G216R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			4	691	-	Breast(11;2.31e-05)		216					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.646G>A	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603466	0.87157	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.57436	0.47;0.4	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);	0.160763	0.56097	D	0.000038	T	0.66327	0.2778	L	0.51422	1.61	0.43110	D	0.99481	D;P	0.76494	0.999;0.796	D;B	0.64042	0.921;0.194	T	0.67369	-0.5688	10	0.72032	D	0.01	-14.286	17.0466	0.86505	0.0:1.0:0.0:0.0	.	216;216	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	R	216	ENSP00000332170:G216R;ENSP00000401749:G216R	ENSP00000332170:G216R	G	-	1	0	P4HA3	73686976	0.994000	0.37717	0.922000	0.36590	0.994000	0.84299	4.517000	0.60503	2.894000	0.99253	0.655000	0.94253	GGA		0.493	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		24	51	0	0	0	1	0	24	51				
ACTR1B	10120	broad.mit.edu	37	2	98275897	98275897	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98275897C>T	ENST00000289228.5	-	4	449	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	78					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TCGCACCACGCCGTGCTCCAT	0.657																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(232-234)gGc>gAc		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							213.0	190.0	198.0					2																	98275897		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275897C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.233G>A	2.37:g.98275897C>T	ENSP00000289228:p.Gly78Asp						p.G78D	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			4	449	-			78					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.233G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	32	5.150540	0.94645	.	.	ENSG00000115073	ENST00000289228	D	0.97731	-4.51	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	H	0.96720	3.87	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.99053	1.0828	10	0.87932	D	0	.	16.1821	0.81915	0.0:1.0:0.0:0.0	.	78	P42025	ACTY_HUMAN	D	78	ENSP00000289228:G78D	ENSP00000289228:G78D	G	-	2	0	ACTR1B	97642329	1.000000	0.71417	0.811000	0.32455	0.984000	0.73092	7.795000	0.85887	2.427000	0.82271	0.555000	0.69702	GGC		0.657	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		7	142	0	0	0	1	0	7	142				
GOLPH3	64083	broad.mit.edu	37	5	32126482	32126482	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:32126482C>T	ENST00000265070.6	-	4	1048	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	245					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACGTCCGAGGCATGAGCCAGG	0.537																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(733-735)Gcc>Acc		golgi phosphoprotein 3 (coat-protein)							138.0	119.0	125.0					5																	32126482		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126482C>T	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.733G>A	5.37:g.32126482C>T	ENSP00000265070:p.Ala245Thr						p.A245T	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	1048	-			245					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.733G>A	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910610	0.33721	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	5.3	0.74995	.	0.051573	0.85682	D	0.000000	T	0.74107	0.3673	M	0.86268	2.805	0.80722	D	1	P	0.38148	0.62	P	0.46629	0.522	T	0.77487	-0.2569	9	0.59425	D	0.04	.	14.5739	0.68232	0.2662:0.7338:0.0:0.0	.	245	Q9H4A6	GOLP3_HUMAN	T	245;228	.	ENSP00000265070:A245T	A	-	1	0	GOLPH3	32162239	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	4.700000	0.61803	1.606000	0.50161	-0.182000	0.12963	GCC		0.537	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		14	38	0	0	0	1	0	14	38				
CDH20	28316	broad.mit.edu	37	18	59212279	59212279	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:59212279C>T	ENST00000262717.4	+	10	1948	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	CDH20_ENST00000538374.1_Missense_Mutation_p.A517V|CDH20_ENST00000536675.2_Missense_Mutation_p.A517V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	517	Cadherin 5. {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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACAGTGAGTGCGGTGGACCAA	0.517																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1549-1551)gCg>gTg		cadherin 20, type 2							142.0	114.0	123.0					18																	59212279		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59212279C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1550C>T	18.37:g.59212279C>T	ENSP00000262717:p.Ala517Val					CDH20_ENST00000538374.1_Missense_Mutation_p.A517V|CDH20_ENST00000536675.2_Missense_Mutation_p.A517V	p.A517V			Q9HBT6	CAD20_HUMAN			10	1948	+		Colorectal(73;0.186)	517			Cadherin 5.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1550C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180578	0.94846	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.59364	0.27;0.27;0.27	6.01	6.01	0.97437	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71560	-0.4556	10	0.41790	T	0.15	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	517	Q9HBT6	CAD20_HUMAN	V	517	ENSP00000444767:A517V;ENSP00000442226:A517V;ENSP00000262717:A517V	ENSP00000262717:A517V	A	+	2	0	CDH20	57363259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.051000	0.71072	2.861000	0.98227	0.650000	0.86243	GCG		0.517	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		27	25	0	0	0	1	0	27	25				
KAT2A	2648	broad.mit.edu	37	17	40272789	40272789	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40272789C>T	ENST00000225916.5	-	2	451	c.398G>A	c.(397-399)cGc>cAc	p.R133H	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.R167H|HSPB9_ENST00000355067.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	133					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.R133H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGATCCATGCGGGGTGCAGT	0.602																																						ENST00000225916.5																			1	Substitution - Missense(1)	p.R133H(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(397-399)cGc>cAc		K(lysine) acetyltransferase 2A							49.0	56.0	54.0					17																	40272789		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40272789C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.398G>A	17.37:g.40272789C>T	ENSP00000225916:p.Arg133His					CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.R167H	p.R133H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			2	451	-			133					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.398G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733316	0.89482	.	.	ENSG00000108773	ENST00000225916	T	0.05786	3.39	5.39	5.39	0.77823	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	D	0.63033	0.91	T	0.00088	-1.2091	10	0.38643	T	0.18	-22.4655	19.3359	0.94319	0.0:1.0:0.0:0.0	.	133	Q92830	KAT2A_HUMAN	H	133	ENSP00000225916:R133H	ENSP00000225916:R133H	R	-	2	0	KAT2A	37526315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.750000	0.62162	2.809000	0.96659	0.555000	0.69702	CGC		0.602	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		18	38	0	0	0	1	0	18	38				
JAK1	3716	broad.mit.edu	37	1	65309756	65309756	+	Silent	SNP	C	C	T	rs200208839	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65309756C>T	ENST00000342505.4	-	17	2642	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	798	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCTCAATCAGCGTCTTGTCTT	0.572			Mis		ALL								C|||	2	0.000399361	0.0	0.0029	5008	,	,		18971	0.0		0.0	False		,,,				2504	0.0					ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2392-2394)acG>acA		Janus kinase 1		C		0,4092		0,0,2046	116.0	120.0	118.0		2394	-10.7	0.0	1		118	2,8388		0,2,4193	no	coding-synonymous	JAK1	NM_002227.2		0,2,6239	TT,TC,CC		0.0238,0.0,0.016		798/1155	65309756	2,12480	2046	4195	6241	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65309756C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2394G>A	1.37:g.65309756C>T						JAK1_ENST00000465376.1_5'UTR	p.T798T	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	17	2642	-			798			Protein kinase 1.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.2394G>A	CCDS41346.1																																																																																				0.572	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		11	30	0	0	0	1	0	11	30				
RAMP3	10268	broad.mit.edu	37	7	45216944	45216944	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45216944G>A	ENST00000242249.4	+	2	133	c.95G>A	c.(94-96)gGc>gAc	p.G32D	RAMP3_ENST00000481345.1_Missense_Mutation_p.G32D|RAMP3_ENST00000496212.1_Missense_Mutation_p.G32D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	32					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AACGAGACAGGCATGTTGGAG	0.587																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(94-96)gGc>gAc		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						155.0	123.0	134.0					7																	45216944		2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216944G>A	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.95G>A	7.37:g.45216944G>A	ENSP00000242249:p.Gly32Asp					RAMP3_ENST00000481345.1_Missense_Mutation_p.G32D|RAMP3_ENST00000496212.1_Missense_Mutation_p.G32D	p.G32D	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			2	133	+			32					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.95G>A	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	G	2.667	-0.278447	0.05679	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.22134	1.98;1.98;1.97	4.24	3.25	0.37280	.	0.381374	0.27147	N	0.020703	T	0.10252	0.0251	L	0.29908	0.895	0.09310	N	1	P	0.35363	0.497	B	0.25614	0.062	T	0.19910	-1.0291	10	0.11485	T	0.65	-10.0717	7.7181	0.28717	0.0:0.0:0.6728:0.3272	.	32	O60896	RAMP3_HUMAN	D	32	ENSP00000242249:G32D;ENSP00000419012:G32D;ENSP00000418460:G32D	ENSP00000242249:G32D	G	+	2	0	RAMP3	45183469	0.832000	0.29368	0.069000	0.20011	0.005000	0.04900	1.593000	0.36686	1.906000	0.55180	0.561000	0.74099	GGC		0.587	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		8	21	0	0	0	1	0	8	21				
C12orf42	374470	broad.mit.edu	37	12	103696167	103696167	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:103696167C>T	ENST00000378113.2	-	6	1027	c.802G>A	c.(802-804)Gcg>Acg	p.A268T	C12orf42_ENST00000548883.1_Missense_Mutation_p.A268T|C12orf42_ENST00000548048.1_Missense_Mutation_p.A201T|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	268								p.A268T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTTCCGGACGCGCCCAGGAGT	0.667																																						ENST00000548048.1																			1	Substitution - Missense(1)	p.A268T(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(601-603)Gcg>Acg		chromosome 12 open reading frame 42							53.0	62.0	59.0					12																	103696167		2061	4219	6280	SO:0001583	missense	374470							g.chr12:103696167C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.802G>A	12.37:g.103696167C>T	ENSP00000367353:p.Ala268Thr					C12orf42_ENST00000378113.2_Missense_Mutation_p.A268T|C12orf42_ENST00000548883.1_Missense_Mutation_p.A268T|C12orf42_ENST00000315192.8_Intron	p.A201T			Q96LP6	CL042_HUMAN			9	1097	-			268					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.601G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431947	0.43122	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.52526	0.66;0.66;0.66	4.42	1.44	0.22558	.	2.020920	0.02528	N	0.093292	T	0.29620	0.0739	N	0.17082	0.46	0.09310	N	1	B	0.34181	0.44	B	0.19148	0.024	T	0.18681	-1.0329	10	0.24483	T	0.36	4.3776	8.9747	0.35928	0.0:0.6519:0.0:0.3481	.	268	Q96LP6	CL042_HUMAN	T	268;201;268	ENSP00000447908:A268T;ENSP00000449362:A201T;ENSP00000367353:A268T	ENSP00000367353:A268T	A	-	1	0	C12orf42	102220297	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.778000	0.04664	0.156000	0.19299	0.561000	0.74099	GCG		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		38	56	0	0	0	1	0	38	56				
SMYD2	56950	broad.mit.edu	37	1	214504374	214504374	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:214504374A>G	ENST00000366957.5	+	9	920	c.898A>G	c.(898-900)Aac>Gac	p.N300D	SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	300					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ATATGCACGCAACGTCATTGA	0.498																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(898-900)Aac>Gac		SET and MYND domain containing 2							130.0	127.0	128.0					1																	214504374		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214504374A>G	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.898A>G	1.37:g.214504374A>G	ENSP00000355924:p.Asn300Asp					SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Intron	p.N300D	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	9	920	+			300					B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.898A>G	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278476	0.40294	.	.	ENSG00000143499	ENST00000366957;ENST00000416415	T	0.17054	2.3	5.84	4.71	0.59529	.	0.428844	0.28067	N	0.016724	T	0.13756	0.0333	L	0.50919	1.6	0.80722	D	1	B;B	0.33345	0.197;0.409	B;B	0.29176	0.045;0.099	T	0.04752	-1.0929	10	0.11182	T	0.66	-9.0808	10.4	0.44225	0.9263:0.0:0.0737:0.0	.	300;284	Q9NRG4;Q05C86	SMYD2_HUMAN;.	D	300;19	ENSP00000355924:N300D	ENSP00000355924:N300D	N	+	1	0	SMYD2	212570997	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.995000	0.70631	1.031000	0.39867	0.533000	0.62120	AAC		0.498	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		26	38	0	0	0	1	0	26	38				
FAM71E1	112703	broad.mit.edu	37	19	50979390	50979390	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50979390C>T	ENST00000600100.1	-	1	620	c.256G>A	c.(256-258)Gca>Aca	p.A86T	EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Missense_Mutation_p.A86T			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	86										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CTCTCACCTGCCATCCCACCT	0.662																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(256-258)Gca>Aca		family with sequence similarity 71, member E1							55.0	66.0	62.0					19																	50979390		2186	4287	6473	SO:0001583	missense	112703							g.chr19:50979390C>T		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.256G>A	19.37:g.50979390C>T	ENSP00000472421:p.Ala86Thr					FAM71E1_ENST00000595790.1_Missense_Mutation_p.A86T	p.A86T			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	620	-		all_neural(266;0.131)	86					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.212160	0.79240	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.12672	2.68;2.66	4.38	-1.4	0.08968	.	.	.	.	.	T	0.07818	0.0196	L	0.38175	1.15	0.28157	N	0.929146	B;B	0.19331	0.02;0.035	B;B	0.17098	0.014;0.017	T	0.40213	-0.9575	9	0.22109	T	0.4	.	0.9388	0.01351	0.1662:0.3767:0.2344:0.2227	.	86;86	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	T	86	ENSP00000375692:A86T;ENSP00000270620:A86T	ENSP00000270620:A86T	A	-	1	0	FAM71E1	55671202	0.518000	0.26234	0.998000	0.56505	0.851000	0.48451	-0.059000	0.11731	0.076000	0.16826	0.563000	0.77884	GCA		0.662	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			22	42	0	0	0	1	0	22	42				
GPR55	9290	broad.mit.edu	37	2	231775353	231775353	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:231775353C>T	ENST00000392040.1	-	2	517	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Missense_Mutation_p.V109I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	109					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.V109L(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGGTGAAGACGCTTCCGTAC	0.582																																						ENST00000392040.1																			1	Substitution - Missense(1)	p.V109L(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(325-327)Gtc>Atc		G protein-coupled receptor 55							68.0	45.0	53.0					2																	231775353		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775353C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.325G>A	2.37:g.231775353C>T	ENSP00000375894:p.Val109Ile					GPR55_ENST00000392039.2_Missense_Mutation_p.V109I	p.V109I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	517	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	109					Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.325G>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	2.028	-0.422998	0.04734	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.69561	-0.41;-0.41;-0.41	5.38	0.155	0.14906	GPCR, rhodopsin-like superfamily (1);	0.176917	0.47455	N	0.000226	T	0.33760	0.0874	N	0.04260	-0.245	0.27475	N	0.952759	B	0.18166	0.026	B	0.14023	0.01	T	0.34279	-0.9835	10	0.02654	T	1	-29.0992	9.1034	0.36683	0.0:0.4769:0.0:0.5231	.	109	Q9Y2T6	GPR55_HUMAN	I	109	ENSP00000375894:V109I;ENSP00000375893:V109I;ENSP00000412768:V109I	ENSP00000375893:V109I	V	-	1	0	GPR55	231483597	0.037000	0.19845	0.090000	0.20809	0.869000	0.49853	0.290000	0.18975	-0.257000	0.09459	-0.136000	0.14681	GTC		0.582	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		9	10	0	0	0	1	0	9	10				
PLPPR3	79948	broad.mit.edu	37	19	814746	814746	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:814746C>A	ENST00000520876.3	-	6	681	c.603G>T	c.(601-603)aaG>aaT	p.K201N	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.K201N	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		201						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ACGGGAAGGTCTTCCTGTAAG	0.672																																						ENST00000359894.2																			0											c.(601-603)aaG>aaT									41.0	33.0	36.0					19																	814746		2187	4296	6483	SO:0001583	missense	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:814746C>A																												ENST00000520876.3:c.603G>T	19.37:g.814746C>A	ENSP00000430297:p.Lys201Asn					LPPR3_ENST00000520876.3_Missense_Mutation_p.K201N	p.K201N	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			6	666	-			201					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.603G>T	CCDS58636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.084937|4.084937	0.76642|0.76642	.|.	.|.	ENSG00000129951|ENSG00000129951	ENST00000517665;ENST00000521445|ENST00000300947;ENST00000359894;ENST00000520876	.|T;T	.|0.47177	.|0.85;0.85	4.77|4.77	3.73|3.73	0.42828|0.42828	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63931|0.63931	0.2553|0.2553	M|M	0.72576|0.72576	2.205|2.205	0.38885|0.38885	D|D	0.956998|0.956998	.|D;D;D	.|0.67145	.|0.995;0.996;0.993	.|D;D;P	.|0.70716	.|0.949;0.97;0.892	T|T	0.68420|0.68420	-0.5413|-0.5413	5|10	.|0.87932	.|D	.|0	-24.8006|-24.8006	10.3457|10.3457	0.43906|0.43906	0.0:0.907:0.0:0.093|0.0:0.907:0.0:0.093	.|.	.|202;201;201	.|Q6T4P5-2;Q6T4P5;Q6T4P5-3	.|.;LPPR3_HUMAN;.	Y|N	2;151|202;201;201	.|ENSP00000352962:K201N;ENSP00000430297:K201N	.|ENSP00000300947:K202N	D|K	-|-	1|3	0|2	AC006273.1|AC006273.1	765746|765746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.357000|1.357000	0.34090|0.34090	1.001000|1.001000	0.39076|0.39076	0.555000|0.555000	0.69702|0.69702	GAC|AAG		0.672	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			4	12	1	0	0.014758	1	0.0148771	4	12				
AHNAK2	113146	broad.mit.edu	37	14	105410919	105410919	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105410919G>A	ENST00000333244.5	-	7	10988	c.10869C>T	c.(10867-10869)gaC>gaT	p.D3623D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3623						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGGACAGGTCTCCCTCCA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10867-10869)gaC>gaT		AHNAK nucleoprotein 2							144.0	156.0	152.0					14																	105410919		2042	4185	6227	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105410919G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10869C>T	14.37:g.105410919G>A						AHNAK2_ENST00000557457.1_Intron	p.D3623D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10988	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3623					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.10869C>T	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		78	132	0	0	0	1	0	78	132				
SNAI3	333929	broad.mit.edu	37	16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			1	Substitution - Missense(1)	p.G134R(1)	NS(1)	NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(400-402)Ggg>Agg		snail family zinc finger 3							45.0	56.0	52.0					16																	88747799		2198	4299	6497	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747799C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.400G>A	16.37:g.88747799C>T	ENSP00000327968:p.Gly134Arg					SNAI3-AS1_ENST00000563261.1_RNA	p.G134R	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	486	-			134					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.400G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	4.889	0.165211	0.09339	.	.	ENSG00000185669	ENST00000332281	T	0.06449	3.3	4.64	-2.91	0.05631	.	2.065270	0.01995	N	0.045808	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41413	-0.9510	10	0.33940	T	0.23	0.982	8.5383	0.33377	0.0:0.3365:0.1238:0.5397	.	134	Q3KNW1	SNAI3_HUMAN	R	134	ENSP00000327968:G134R	ENSP00000327968:G134R	G	-	1	0	SNAI3	87275300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.196000	0.09532	-0.792000	0.04480	-1.579000	0.00862	GGG		0.667	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			37	41	0	0	0	1	0	37	41				
PSAT1	29968	broad.mit.edu	37	9	80915565	80915565	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:80915565C>T	ENST00000376588.3	+	2	176	c.108C>T	c.(106-108)ggC>ggT	p.G36G	PSAT1_ENST00000347159.2_Silent_p.G36G	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	36					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						AAGGAGTTGGCATTAGTGTTC	0.308																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(106-108)ggC>ggT		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						107.0	114.0	112.0					9																	80915565		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80915565C>T	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.108C>T	9.37:g.80915565C>T						PSAT1_ENST00000347159.2_Silent_p.G36G	p.G36G	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			2	176	+			36					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.108C>T	CCDS6660.1																																																																																				0.308	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		22	22	0	0	0	1	0	22	22				
REEP4	80346	broad.mit.edu	37	8	21996508	21996508	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21996508C>T	ENST00000306306.3	-	6	952	c.484G>A	c.(484-486)Gca>Aca	p.A162T	REEP4_ENST00000523293.1_Missense_Mutation_p.A162T|REEP4_ENST00000334530.5_Intron	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	162					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGGGCAGGTGCGTCAGAGATG	0.692																																						ENST00000306306.3																			0				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7						c.(484-486)Gca>Aca		receptor accessory protein 4							25.0	24.0	24.0					8																	21996508		2202	4298	6500	SO:0001583	missense	80346					integral to membrane		g.chr8:21996508C>T	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.484G>A	8.37:g.21996508C>T	ENSP00000303482:p.Ala162Thr					REEP4_ENST00000334530.5_Intron|REEP4_ENST00000523293.1_Missense_Mutation_p.A162T	p.A162T	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	6	952	-			162					D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	ENST00000306306.3	37	c.484G>A	CCDS6024.1	.	.	.	.	.	.	.	.	.	.	C	4.691	0.128469	0.08981	.	.	ENSG00000168476	ENST00000306306;ENST00000523293;ENST00000518664	D;D;D	0.87966	-1.64;-2.32;-2.25	4.86	-1.87	0.07737	.	1.393810	0.05295	N	0.521929	T	0.74951	0.3784	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57837	-0.7742	10	0.17369	T	0.5	-14.3631	9.7116	0.40249	0.0:0.4082:0.0:0.5918	.	162	Q9H6H4	REEP4_HUMAN	T	162	ENSP00000303482:A162T;ENSP00000428709:A162T;ENSP00000428160:A162T	ENSP00000303482:A162T	A	-	1	0	REEP4	22052453	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.556000	0.23438	-0.336000	0.08438	-0.150000	0.13652	GCA		0.692	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2	NM_025232		6	5	0	0	0	1	0	6	5				
FAM13B	51306	broad.mit.edu	37	5	137284782	137284782	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137284782G>A	ENST00000033079.3	-	17	2407	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	FAM13B_ENST00000425075.2_Silent_p.D556D|FAM13B_ENST00000420893.2_Silent_p.D652D	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	652					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CATCTTCATGGTCTAGAGAAG	0.383																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1954-1956)gaC>gaT		family with sequence similarity 13, member B							176.0	167.0	170.0					5																	137284782		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137284782G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1956C>T	5.37:g.137284782G>A						FAM13B_ENST00000425075.2_Silent_p.D556D|FAM13B_ENST00000420893.2_Silent_p.D652D	p.D652D	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			17	2407	-			652					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.1956C>T	CCDS4195.1																																																																																				0.383	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			55	77	0	0	0	1	0	55	77				
GFM1	85476	broad.mit.edu	37	3	158408054	158408054	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158408054G>A	ENST00000486715.1	+	16	2369	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Missense_Mutation_p.R690H	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATTAACCGACGCCATGGGGTA	0.408																																						ENST00000486715.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22						c.(2011-2013)cGc>cAc		G elongation factor, mitochondrial 1							184.0	179.0	180.0					3																	158408054		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158408054G>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2012G>A	3.37:g.158408054G>A	ENSP00000419038:p.Arg671His					GFM1_ENST00000264263.5_Missense_Mutation_p.R690H	p.R671H	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		16	2369	+			671						Missense_Mutation	SNP	ENST00000486715.1	37	c.2012G>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913920	0.92178	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.71341	-0.56;-0.56	5.8	4.93	0.64822	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.057811	0.64402	D	0.000001	D	0.86619	0.5976	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89500	0.3763	10	0.87932	D	0	-9.074	14.8285	0.70130	0.0687:0.0:0.9313:0.0	.	690;671	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	H	671;690	ENSP00000419038:R671H;ENSP00000264263:R690H	ENSP00000264263:R690H	R	+	2	0	GFM1	159890748	1.000000	0.71417	0.911000	0.35937	0.940000	0.58332	9.382000	0.97209	1.456000	0.47831	0.650000	0.86243	CGC		0.408	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		56	110	0	0	0	1	0	56	110				
JARID2	3720	broad.mit.edu	37	6	15497052	15497052	+	Silent	SNP	C	C	T	rs569790839		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15497052C>T	ENST00000341776.2	+	7	1840	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	JARID2_ENST00000541660.1_Silent_p.S494S|JARID2_ENST00000397311.3_Silent_p.S360S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	532					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACCGGAGTCCGTGCACAAGC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		13417	0.001		0.0	False		,,,				2504	0.0					ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1594-1596)tcC>tcT		jumonji, AT rich interactive domain 2							21.0	24.0	23.0					6																	15497052		2203	4298	6501	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497052C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1596C>T	6.37:g.15497052C>T						JARID2_ENST00000397311.3_Silent_p.S360S|JARID2_ENST00000541660.1_Silent_p.S494S	p.S532S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1840	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	532					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1596C>T	CCDS4533.1																																																																																				0.687	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		5	9	0	0	0	1	0	5	9				
PVRL4	81607	broad.mit.edu	37	1	161044461	161044461	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161044461C>T	ENST00000368012.3	-	5	1242	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	PVRL4_ENST00000453926.2_Missense_Mutation_p.V48I|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	314	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACATGGCAGACGTAGATGCCG	0.572																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(940-942)Gtc>Atc		poliovirus receptor-related 4							89.0	90.0	90.0					1																	161044461		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044461C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.940G>A	1.37:g.161044461C>T	ENSP00000356991:p.Val314Ile					PVRL4_ENST00000453926.2_Missense_Mutation_p.V48I	p.V314I	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		5	1242	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		314			Ig-like C2-type 2.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.940G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239689	0.22711	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.20332	2.08;2.08	4.84	2.97	0.34412	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.388638	0.21891	N	0.067590	T	0.03651	0.0104	N	0.05078	-0.115	0.31373	N	0.679939	B;D	0.54047	0.003;0.964	B;P	0.47786	0.003;0.557	T	0.16600	-1.0397	10	0.10902	T	0.67	.	7.1056	0.25362	0.0:0.798:0.0:0.202	.	48;314	B4DQW3;Q96NY8	.;PVRL4_HUMAN	I	314;48	ENSP00000356991:V314I;ENSP00000406015:V48I	ENSP00000356991:V314I	V	-	1	0	PVRL4	159311085	0.983000	0.35010	0.974000	0.42286	0.428000	0.31595	1.932000	0.40143	0.642000	0.30620	0.561000	0.74099	GTC		0.572	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	18	0	0	0	1	0	11	18				
NIPAL1	152519	broad.mit.edu	37	4	48037777	48037777	+	Missense_Mutation	SNP	C	C	T	rs139075175	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48037777C>T	ENST00000295461.5	+	6	887	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACAAACATCCGCTGGTCTTT	0.423													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20716	0.0		0.0	False		,,,				2504	0.0					ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(820-822)cCg>cTg		NIPA-like domain containing 1		C	LEU/PRO	14,4392	21.2+/-45.6	0,14,2189	99.0	90.0	93.0		821	5.6	0.5	4	dbSNP_134	93	0,8600		0,0,4300	yes	missense	NIPAL1	NM_207330.1	98	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	probably-damaging	274/411	48037777	14,12992	2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48037777C>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.821C>T	4.37:g.48037777C>T	ENSP00000295461:p.Pro274Leu						p.P274L	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	887	+			274					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.821C>T	CCDS3479.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.33	3.361572	0.61403	0.003177	0.0	ENSG00000163293	ENST00000295461	D	0.90069	-2.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94256	0.7498	9	.	.	.	.	19.7003	0.96050	0.0:1.0:0.0:0.0	.	274	Q6NVV3	NIPA3_HUMAN	L	274	ENSP00000295461:P274L	.	P	+	2	0	NIPAL1	47732534	1.000000	0.71417	0.462000	0.27118	0.014000	0.08584	7.647000	0.83462	2.657000	0.90304	0.655000	0.94253	CCG		0.423	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		23	38	0	0	0	1	0	23	38				
XPC	7508	broad.mit.edu	37	3	14214486	14214486	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14214486G>A	ENST00000285021.7	-	2	394	c.180C>T	c.(178-180)tgC>tgT	p.C60C	XPC_ENST00000449060.2_Silent_p.C60C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	60	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGGATGACTGCAGCCTCTTT	0.448			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(178-180)tgC>tgT	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							95.0	89.0	91.0					3																	14214486		1874	4107	5981	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14214486G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.180C>T	3.37:g.14214486G>A						XPC_ENST00000449060.2_Silent_p.C60C	p.C60C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			2	394	-			60			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.180C>T	CCDS46763.1																																																																																				0.448	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		7	15	0	0	0	1	0	7	15				
SLC25A45	283130	broad.mit.edu	37	11	65144483	65144483	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65144483G>A	ENST00000527174.1	-	5	459	c.404C>T	c.(403-405)gCc>gTc	p.A135V	SLC25A45_ENST00000377152.2_Missense_Mutation_p.A31V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A111V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A73V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A93V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A111V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.A93V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.A135V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	135					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CCCTGGCTGGGCCCTTGGCTC	0.662																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(277-279)gCc>gTc		solute carrier family 25, member 45							26.0	30.0	29.0					11																	65144483		1817	4077	5894	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144483G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.404C>T	11.37:g.65144483G>A	ENSP00000435489:p.Ala135Val					SLC25A45_ENST00000377152.2_Missense_Mutation_p.A31V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.A73V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.A111V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.A135V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.A111V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.A93V|SLC25A45_ENST00000527174.1_Missense_Mutation_p.A135V	p.A93V	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			9	1412	-			135					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.278C>T	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	7.480	0.648555	0.14516	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.23	-0.0427	0.13862	Mitochondrial carrier domain (2);	1.499530	0.03894	N	0.279246	T	0.60534	0.2276	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.16289	0.01;0.008;0.015	T	0.43988	-0.9357	10	0.30078	T	0.28	0.0231	6.0682	0.19875	0.2856:0.1319:0.5825:0.0	.	73;111;135	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	135;111;135;111;31;93;93;73	ENSP00000435489:A135V;ENSP00000431769:A111V;ENSP00000381782:A135V;ENSP00000353879:A111V;ENSP00000366357:A31V;ENSP00000294187:A93V;ENSP00000407530:A93V;ENSP00000435547:A73V	ENSP00000294187:A93V	A	-	2	0	SLC25A45	64901059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	-0.182000	0.10602	0.561000	0.74099	GCC		0.662	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		5	30	0	0	0	1	0	5	30				
MCM3AP	8888	broad.mit.edu	37	21	47697477	47697477	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:47697477G>A	ENST00000397708.1	-	6	2076	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R608C			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	608					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAAGCAGGCGGTACTTCTCC	0.592																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1822-1824)Cgc>Tgc		minichromosome maintenance complex component 3 associated protein							164.0	132.0	143.0					21																	47697477		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697477G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1822C>T	21.37:g.47697477G>A	ENSP00000380820:p.Arg608Cys					MCM3AP_ENST00000291688.1_Missense_Mutation_p.R608C	p.R608C			O60318	MCM3A_HUMAN			6	2076	-	Breast(49;0.112)		608					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1822C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827009	0.90955	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.05025	3.51;3.51	5.74	5.74	0.90152	.	0.046970	0.85682	D	0.000000	T	0.23611	0.0571	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.00034	-1.2264	10	0.87932	D	0	-21.2632	16.2065	0.82133	0.0:0.0:0.8665:0.1335	.	608	O60318	MCM3A_HUMAN	C	608	ENSP00000380820:R608C;ENSP00000291688:R608C	ENSP00000291688:R608C	R	-	1	0	MCM3AP	46521905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.406000	0.73276	2.715000	0.92844	0.655000	0.94253	CGC		0.592	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		40	11	0	0	0	1	0	40	11				
CLIP2	7461	broad.mit.edu	37	7	73811444	73811444	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73811444C>T	ENST00000395060.1	+	13	2761	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	CLIP2_ENST00000361545.5_Missense_Mutation_p.R886C|CLIP2_ENST00000223398.6_Missense_Mutation_p.R921C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	921						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGAGGCCAATCGTCACTCCCC	0.642																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2761-2763)Cgt>Tgt		CAP-GLY domain containing linker protein 2							99.0	89.0	92.0					7																	73811444		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811444C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2761C>T	7.37:g.73811444C>T	ENSP00000378500:p.Arg921Cys					CLIP2_ENST00000395060.1_Missense_Mutation_p.R921C|CLIP2_ENST00000361545.5_Missense_Mutation_p.R886C	p.R921C	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			14	3088	+			921					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2761C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294985	0.81025	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;D;T	0.84660	0.14;-1.88;0.14	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89318	0.3638	10	0.72032	D	0.01	-21.019	15.8489	0.78912	0.0:1.0:0.0:0.0	.	886;921	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	921;921;886;921	ENSP00000223398:R921C;ENSP00000355151:R886C;ENSP00000378500:R921C	ENSP00000223398:R921C	R	+	1	0	CLIP2	73449380	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	7.044000	0.76578	2.081000	0.62600	0.561000	0.74099	CGT		0.642	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	27	0	0	0	1	0	9	27				
ALG10B	144245	broad.mit.edu	37	12	38710823	38710823	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38710823C>A	ENST00000308742.4	+	1	444	c.128C>A	c.(127-129)cCt>cAt	p.P43H	ALG10B_ENST00000551464.1_Missense_Mutation_p.P43H	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	43					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTCCACCTGCCTCAGGCGCAG	0.637																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(127-129)cCt>cAt		ALG10B, alpha-1,2-glucosyltransferase							152.0	159.0	157.0					12																	38710823		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38710823C>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.128C>A	12.37:g.38710823C>A	ENSP00000310120:p.Pro43His					ALG10B_ENST00000551464.1_Missense_Mutation_p.P43H	p.P43H	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			1	444	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	43					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.128C>A	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.436971	0.83885	.	.	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.57436	0.4;0.4	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79683	-0.1701	10	0.62326	D	0.03	.	11.129	0.48336	0.0:1.0:0.0:0.0	.	43	Q5I7T1	AG10B_HUMAN	H	43	ENSP00000310120:P43H;ENSP00000448819:P43H	ENSP00000310120:P43H	P	+	2	0	ALG10B	36997090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.831000	0.75324	2.309000	0.77851	0.655000	0.94253	CCT		0.637	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		62	78	1	0	7.93275e-45	1	8.91933e-45	62	78				
ADAM9	8754	broad.mit.edu	37	8	38874762	38874762	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:38874762G>A	ENST00000487273.2	+	6	513	c.435G>A	c.(433-435)gcG>gcA	p.A145A	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	145					activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TAGAGAATGCGAGTTATGGGA	0.373																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(433-435)gcG>gcA		ADAM metallopeptidase domain 9							102.0	91.0	95.0					8																	38874762		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38874762G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.435G>A	8.37:g.38874762G>A							p.A145A	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		6	513	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	145					B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.435G>A	CCDS6112.1																																																																																				0.373	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	62	0	0	0	1	0	5	62				
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1846-1848)cGg>cAg		ubiquitin-like modifier activating enzyme 7							91.0	97.0	95.0					3																	49847305		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847305C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1847G>A	3.37:g.49847305C>T	ENSP00000333266:p.Arg616Gln						p.R616Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2005	-			616					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1847G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000182179	ENST00000333486	T	0.48522	0.81	6.07	-0.683	0.11335	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.301816	0.35525	N	0.003148	T	0.46054	0.1373	L	0.60012	1.86	0.48288	D	0.999623	D	0.59357	0.985	P	0.54499	0.754	T	0.44982	-0.9292	10	0.62326	D	0.03	-12.0257	1.5695	0.02612	0.2615:0.432:0.1277:0.1789	.	616	P41226	UBA7_HUMAN	Q	616	ENSP00000333266:R616Q	ENSP00000333266:R616Q	R	-	2	0	UBA7	49822309	0.565000	0.26610	0.100000	0.21137	0.938000	0.57974	1.465000	0.35299	0.201000	0.20466	0.655000	0.94253	CGG		0.582	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		29	67	0	0	0	1	0	29	67				
SH3D19	152503	broad.mit.edu	37	4	152058907	152058907	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:152058907G>A	ENST00000409252.2	-	14	2340	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	SH3D19_ENST00000424281.1_Missense_Mutation_p.P486S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P545S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P522S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P522S|SH3D19_ENST00000409598.4_Missense_Mutation_p.P522S|SH3D19_ENST00000427414.2_Missense_Mutation_p.P486S|RP11-372K14.2_ENST00000603472.1_RNA			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	545	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TAGTTGGCAGGAAATATGCCA	0.368																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1564-1566)Cct>Tct		SH3 domain containing 19							111.0	105.0	107.0					4																	152058907		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152058907G>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1633C>T	4.37:g.152058907G>A	ENSP00000386848:p.Pro545Ser					SH3D19_ENST00000427414.2_Missense_Mutation_p.P486S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P522S|SH3D19_ENST00000409252.2_Missense_Mutation_p.P545S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P522S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P545S|SH3D19_ENST00000424281.1_Missense_Mutation_p.P486S	p.P522S			Q5HYK7	SH319_HUMAN			14	2731	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	545			SH3 2.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1564C>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	32	5.118297	0.94385	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.23	5.23	0.72850	Src homology-3 domain (4);	0.097412	0.47093	D	0.000254	D	0.97427	0.9158	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.98779	1.0731	10	0.87932	D	0	-7.7844	19.1862	0.93645	0.0:0.0:1.0:0.0	.	545;522;486;300	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	S	522;545;522;486;486;545;522	ENSP00000387030:P522S;ENSP00000302913:P545S;ENSP00000416708:P522S;ENSP00000404542:P486S;ENSP00000415694:P486S;ENSP00000386848:P545S;ENSP00000423449:P522S	ENSP00000302913:P545S	P	-	1	0	SH3D19	152278357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.991000	0.93514	2.602000	0.87976	0.650000	0.86243	CCT		0.368	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		14	39	0	0	0	1	0	14	39				
LTBP4	8425	broad.mit.edu	37	19	41125316	41125316	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41125316C>T	ENST00000308370.7	+	26	3333	c.3333C>T	c.(3331-3333)ggC>ggT	p.G1111G	LTBP4_ENST00000545697.1_Silent_p.G479G|LTBP4_ENST00000243562.9_Silent_p.G165G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.G1044G|LTBP4_ENST00000204005.9_Silent_p.G1074G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1112	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGAAGGCTCCTTCCTCT	0.537																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3331-3333)ggC>ggT		latent transforming growth factor beta binding protein 4							121.0	123.0	122.0					19																	41125316		1997	4176	6173	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125316C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3333C>T	19.37:g.41125316C>T						LTBP4_ENST00000243562.9_Silent_p.G165G|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.G1074G|LTBP4_ENST00000396819.3_Silent_p.G1044G|LTBP4_ENST00000545697.1_Silent_p.G479G	p.G1111G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3333	+			1112			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3333C>T																																																																																					0.537	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		23	41	0	0	0	1	0	23	41				
ATP11C	286410	broad.mit.edu	37	X	138814672	138814672	+	Intron	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:138814672G>T	ENST00000327569.3	-	29	3396				ATP11C_ENST00000370543.1_Missense_Mutation_p.L1104I|ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAGGAAGGGAGGCGTTTCGTT	0.358																																						ENST00000370543.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(3310-3312)Ctc>Atc		ATPase, class VI, type 11C							63.0	56.0	58.0					X																	138814672		876	1991	2867	SO:0001627	intron_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138814672G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3298-758C>A	X.37:g.138814672G>T						ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000327569.3_Intron	p.L1104I			Q8NB49	AT11C_HUMAN			29	3408	-	Acute lymphoblastic leukemia(192;0.000127)		0					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.3310C>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	5.679	0.309778	0.10733	.	.	ENSG00000101974	ENST00000370543	T	0.06371	3.31	5.69	5.69	0.88448	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00243	-1.1884	6	0.36615	T	0.2	.	17.6952	0.88279	0.0:0.0:1.0:0.0	.	.	.	.	I	1104	ENSP00000359574:L1104I	ENSP00000359574:L1104I	L	-	1	0	ATP11C	138642338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.396000	0.81511	0.513000	0.50165	CTC		0.358	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		6	1	1	0	0.000157383	1	0.000161063	6	1				
TONSL	4796	broad.mit.edu	37	8	145667732	145667732	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145667732G>A	ENST00000409379.3	-	6	671	c.642C>T	c.(640-642)cgC>cgT	p.R214R	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	214					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTGGCCCGCGCGCCAGTGGA	0.642																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(640-642)cgC>cgT		tonsoku-like, DNA repair protein							40.0	40.0	40.0					8																	145667732		2200	4298	6498	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145667732G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.642C>T	8.37:g.145667732G>A							p.R214R	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			6	671	-			214					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.642C>T	CCDS34968.2																																																																																				0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		8	10	0	0	0	1	0	8	10				
SLC22A17	51310	broad.mit.edu	37	14	23816920	23816920	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23816920C>T	ENST00000206544.8	-	7	1301	c.965G>A	c.(964-966)cGc>cAc	p.R322H	SLC22A17_ENST00000397267.1_Missense_Mutation_p.R322H|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R211H|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Missense_Mutation_p.R322H	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	322					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTAGCAGTGGCGAATGGCATG	0.622																																						ENST00000354772.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(964-966)cGc>cAc		solute carrier family 22, member 17							59.0	66.0	64.0					14																	23816920		2203	4300	6503	SO:0001583	missense	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23816920C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.965G>A	14.37:g.23816920C>T	ENSP00000206544:p.Arg322His					SLC22A17_ENST00000397267.1_Missense_Mutation_p.R322H|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R322H|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R211H	p.R322H	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	8	1468	-	all_cancers(95;7.12e-06)		322					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	c.965G>A	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339401	0.24339	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.04	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.488080	0.20336	N	0.094339	T	0.70894	0.3276	N	0.17278	0.47	0.32503	N	0.538628	D;B	0.76494	0.999;0.341	P;B	0.62435	0.902;0.036	T	0.70139	-0.4954	10	0.15499	T	0.54	-4.1979	12.6025	0.56504	0.0:0.8327:0.1673:0.0	.	322;322	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	H	322;211;322;322	ENSP00000346824:R322H;ENSP00000380430:R211H;ENSP00000206544:R322H;ENSP00000380437:R322H	ENSP00000206544:R322H	R	-	2	0	SLC22A17	22886760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.288000	0.33296	1.321000	0.45227	0.655000	0.94253	CGC		0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		24	24	0	0	0	1	0	24	24				
NGLY1	55768	broad.mit.edu	37	3	25820135	25820135	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25820135G>A	ENST00000280700.5	-	2	336	c.176C>T	c.(175-177)aCa>aTa	p.T59I	NGLY1_ENST00000417874.2_Missense_Mutation_p.T17I|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.T59I|NGLY1_ENST00000396649.3_Missense_Mutation_p.T59I	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	59	PUB.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AGAAAAGGCTGTGTTTCCAAT	0.358																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(175-177)aCa>aTa		N-glycanase 1							119.0	122.0	121.0					3																	25820135		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25820135G>A	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.176C>T	3.37:g.25820135G>A	ENSP00000280700:p.Thr59Ile					NGLY1_ENST00000280700.5_Missense_Mutation_p.T59I|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.T17I|NGLY1_ENST00000396649.3_Missense_Mutation_p.T59I	p.T59I	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			2	283	-			59			PUB.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.176C>T	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271752	0.80469	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.5	5.43	5.43	0.79202	PUG domain (1);PUB domain (1);	0.187891	0.56097	D	0.000022	T	0.40423	0.1116	N	0.22421	0.69	0.80722	D	1	P;P;P;P	0.50819	0.473;0.938;0.846;0.939	B;P;P;P	0.51324	0.374;0.619;0.534;0.666	T	0.14868	-1.0457	10	0.42905	T	0.14	-3.6116	13.9523	0.64126	0.0:0.0:0.8475:0.1525	.	17;59;59;59	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	I	59;59;59;56;17	ENSP00000387430:T59I;ENSP00000280700:T59I;ENSP00000379886:T59I;ENSP00000307980:T56I;ENSP00000389888:T17I	ENSP00000280700:T59I	T	-	2	0	NGLY1	25795139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.920000	0.75799	2.703000	0.92315	0.650000	0.86243	ACA		0.358	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			44	50	0	0	0	1	0	44	50				
TRPM5	29850	broad.mit.edu	37	11	2428502	2428502	+	Missense_Mutation	SNP	C	C	T	rs529067735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:2428502C>T	ENST00000155858.6	-	20	2973	c.2965G>A	c.(2965-2967)Gca>Aca	p.A989T	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000452833.1_Missense_Mutation_p.A991T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A989T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A989T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACATGTCTGCGTTGCCCTGC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16531	0.0		0.0	False		,,,				2504	0.001				NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2971-2973)Gca>Aca		transient receptor potential cation channel, subfamily M, member 5							73.0	55.0	61.0					11																	2428502		2200	4298	6498	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428502C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2965G>A	11.37:g.2428502C>T	ENSP00000155858:p.Ala989Thr					TRPM5_ENST00000528453.1_Missense_Mutation_p.A989T|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.A989T|TRPM5_ENST00000155858.6_Missense_Mutation_p.A989T	p.A991T			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	20	2979	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	989						Missense_Mutation	SNP	ENST00000155858.6	37	c.2971G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649833	0.14516	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	3.26	3.26	0.37387	.	0.307553	0.30483	N	0.009530	T	0.70771	0.3262	N	0.21508	0.67	0.22253	N	0.999253	B;B;B	0.20368	0.043;0.043;0.044	B;B;B	0.14023	0.01;0.006;0.008	T	0.53337	-0.8453	10	0.18710	T	0.47	-19.5391	7.4223	0.27079	0.0:0.7829:0.0:0.2171	.	989;991;989	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	983;989;991;989;989	ENSP00000434383:A983T;ENSP00000155858:A989T;ENSP00000387965:A991T;ENSP00000434121:A989T;ENSP00000436809:A989T	ENSP00000155858:A989T	A	-	1	0	TRPM5	2385078	0.992000	0.36948	0.231000	0.23993	0.881000	0.50899	2.727000	0.47311	1.780000	0.52325	0.511000	0.50034	GCA		0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		11	11	0	0	0	1	0	11	11				
PFKM	5213	broad.mit.edu	37	12	48536609	48536609	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48536609G>A	ENST00000312352.7	+	18	1737	c.1698G>A	c.(1696-1698)cgG>cgA	p.R566R	PFKM_ENST00000340802.6_Silent_p.R637R|PFKM_ENST00000551804.1_Silent_p.R535R|PFKM_ENST00000395233.2_Silent_p.R535R|PFKM_ENST00000359794.5_Silent_p.R566R|PFKM_ENST00000547587.1_Silent_p.R566R	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	566	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCAAGCGTCGGGTGTTTATCA	0.532																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1909-1911)cgG>cgA		phosphofructokinase, muscle							137.0	122.0	127.0					12																	48536609		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48536609G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1698G>A	12.37:g.48536609G>A						PFKM_ENST00000547587.1_Silent_p.R566R|PFKM_ENST00000395233.2_Silent_p.R535R|PFKM_ENST00000359794.5_Silent_p.R566R|PFKM_ENST00000551804.1_Silent_p.R535R|PFKM_ENST00000312352.7_Silent_p.R566R	p.R637R	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			20	2135	+			566					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.1911G>A	CCDS8760.1																																																																																				0.532	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		9	74	0	0	0	1	0	9	74				
EHD1	10938	broad.mit.edu	37	11	64627628	64627628	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64627628T>C	ENST00000320631.3	-	3	937	c.683A>G	c.(682-684)cAg>cGg	p.Q228R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q228R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	228	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CCGCATCAGCTGCTGCGTCTC	0.587																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(682-684)cAg>cGg		EH-domain containing 1							103.0	98.0	100.0					11																	64627628		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627628T>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.683A>G	11.37:g.64627628T>C	ENSP00000320516:p.Gln228Arg					EHD1_ENST00000359393.2_Missense_Mutation_p.Q228R	p.Q228R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	937	-			228					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.683A>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806776	0.70682	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	T;T;T;T;T	0.47869	2.12;2.12;0.83;1.42;0.89	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.86268	2.805	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.57946	-0.7723	10	0.66056	D	0.02	-51.0155	12.823	0.57704	0.0:0.0:0.0:1.0	.	228;228	B2R5U3;Q9H4M9	.;EHD1_HUMAN	R	228;228;204;242;92;242;92	ENSP00000320516:Q228R;ENSP00000352354:Q228R;ENSP00000391429:Q92R;ENSP00000404944:Q242R;ENSP00000396273:Q92R	ENSP00000320516:Q228R	Q	-	2	0	EHD1	64384204	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.803000	0.85983	2.132000	0.65825	0.459000	0.35465	CAG		0.587	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		20	20	0	0	0	1	0	20	20				
M6PR	4074	broad.mit.edu	37	12	9095068	9095068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9095068C>A	ENST00000000412.3	-	6	1123	c.655G>T	c.(655-657)Gga>Tga	p.G219*		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	219					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGCTCCATTCCTTTGGCTCCC	0.478																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(655-657)Gga>Tga		mannose-6-phosphate receptor (cation dependent)							136.0	119.0	125.0					12																	9095068		2203	4300	6503	SO:0001587	stop_gained	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095068C>A		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.655G>T	12.37:g.9095068C>A	ENSP00000000412:p.Gly219*						p.G219*	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	1123	-		Hepatocellular(102;0.137)	219					A8K528|D3DUV5	Nonsense_Mutation	SNP	ENST00000000412.3	37	c.655G>T	CCDS8598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143514|5.143514	0.94603|0.94603	.|.	.|.	ENSG00000003056|ENSG00000003056	ENST00000000412;ENST00000544193;ENST00000543704|ENST00000539143;ENST00000537621	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81664	.|0.4870	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82362	.|-0.0495	.|4	0.87932|0.59425	D|D	0|0.04	-20.6877|-20.6877	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	219;16;90|29;96	.|.	ENSP00000000412:G219X|ENSP00000444684:K96N	G|K	-|-	1|3	0|2	M6PR|M6PR	8986335|8986335	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.478	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			24	46	1	0	1.85244e-09	1	1.96811e-09	24	46				
SNX31	169166	broad.mit.edu	37	8	101629955	101629955	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:101629955T>C	ENST00000311812.2	-	5	475	c.325A>G	c.(325-327)Aca>Gca	p.T109A	KB-1083B1.1_ENST00000521625.1_RNA|KB-1083B1.1_ENST00000521535.1_RNA|SNX31_ENST00000428383.2_Missense_Mutation_p.T10A	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTCAAATGTATTCTATAAG	0.388																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(325-327)Aca>Gca		sorting nexin 31							120.0	116.0	117.0					8																	101629955		2202	4300	6502	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101629955T>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.325A>G	8.37:g.101629955T>C	ENSP00000312368:p.Thr109Ala					SNX31_ENST00000428383.2_Missense_Mutation_p.T10A	p.T109A	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		5	475	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		109			PX.		C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.325A>G	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647878	0.47258	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352;ENST00000520661	T;T;T;T	0.52983	2.14;1.34;0.78;0.64	5.96	5.96	0.96718	Phox homologous domain (2);	0.000000	0.64402	D	0.000005	T	0.68641	0.3023	M	0.78456	2.415	0.43137	D	0.994883	D;D	0.89917	1.0;0.991	D;D	0.85130	0.997;0.956	T	0.72811	-0.4180	10	0.66056	D	0.02	-10.9223	12.8229	0.57704	0.0:0.0:0.0:1.0	.	10;109	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	A	109;10;43;110	ENSP00000312368:T109A;ENSP00000405024:T10A;ENSP00000428210:T43A;ENSP00000428855:T110A	ENSP00000312368:T109A	T	-	1	0	SNX31	101699131	1.000000	0.71417	0.725000	0.30721	0.045000	0.14185	4.038000	0.57318	2.277000	0.76020	0.528000	0.53228	ACA		0.388	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		40	37	0	0	0	1	0	40	37				
AKAP17A	8227	broad.mit.edu	37	X	1714291	1714291	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1714291G>A	ENST00000313871.3	+	3	973	c.777G>A	c.(775-777)tcG>tcA	p.S259S	AKAP17A_ENST00000381261.3_Silent_p.S259S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	259					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTTTGATTCGACCAAACACC	0.532																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(775-777)tcG>tcA		A kinase (PRKA) anchor protein 17A							280.0	290.0	286.0					X																	1714291		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714291G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.777G>A	X.37:g.1714291G>A						AKAP17A_ENST00000381261.3_Silent_p.S259S	p.S259S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			3	973	+			259					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.777G>A	CCDS14116.1																																																																																				0.532	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		49	96	0	0	0	1	0	49	96				
FAM57B	83723	broad.mit.edu	37	16	30037072	30037072	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30037072A>G	ENST00000380495.4	-	4	1246	c.515T>C	c.(514-516)gTc>gCc	p.V172A	FAM57B_ENST00000564806.1_Missense_Mutation_p.V122A|FAM57B_ENST00000279389.4_Missense_Mutation_p.V122A	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	172	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCAAGGCAGACGAAGGGCGT	0.597																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(514-516)gTc>gCc		family with sequence similarity 57, member B							177.0	167.0	170.0					16																	30037072		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30037072A>G	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.515T>C	16.37:g.30037072A>G	ENSP00000369863:p.Val172Ala					FAM57B_ENST00000564806.1_Missense_Mutation_p.V122A|FAM57B_ENST00000279389.4_Missense_Mutation_p.V122A	p.V172A	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			4	1246	-			172			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.515T>C	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.111093|5.111093	0.94339|0.94339	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000279389|ENST00000380495	.|D	.|0.87256	.|-2.23	5.04|5.04	5.04|5.04	0.67666|0.67666	.|TRAM/LAG1/CLN8 homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93769|0.93769	0.8008|0.8008	M|M	0.86864|0.86864	2.845|2.845	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P	.|0.89917	.|1.0;0.884	.|D;P	.|0.87578	.|0.998;0.761	D|D	0.94221|0.94221	0.7467|0.7467	5|10	.|0.52906	.|T	.|0.07	-13.9917|-13.9917	13.758|13.758	0.62948|0.62948	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|172;172	.|F1T0F5;Q71RH2	.|.;FA57B_HUMAN	P|A	139|172	.|ENSP00000369863:V172A	.|ENSP00000369863:V172A	S|V	-|-	1|2	0|0	FAM57B|FAM57B	29944573|29944573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.241000|9.241000	0.95402|0.95402	1.894000|1.894000	0.54839|0.54839	0.379000|0.379000	0.24179|0.24179	TCT|GTC		0.597	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		50	61	0	0	0	1	0	50	61				
KLHL12	59349	broad.mit.edu	37	1	202880299	202880299	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202880299G>A	ENST00000367261.3	-	5	818	c.600C>T	c.(598-600)gtC>gtT	p.V200V	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Silent_p.V238V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	200	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGTTGATGACAGCCTCAA	0.468																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(598-600)gtC>gtT		kelch-like family member 12							174.0	162.0	166.0					1																	202880299		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202880299G>A	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.600C>T	1.37:g.202880299G>A						KLHL12_ENST00000435533.3_Silent_p.V238V	p.V200V	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	818	-			200					A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.600C>T	CCDS1429.1																																																																																				0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		65	113	0	0	0	1	0	65	113				
PCDHB18	54660	broad.mit.edu	37	5	140616030	140616030	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140616030C>T	ENST00000526308.1	+	0	2093					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GAGCGCGACGCGGCCAAGCAC	0.701																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140616030C>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616030C>T								NR_001281.1						0	2093	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.701	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			14	35	0	0	0	1	0	14	35				
MEFV	4210	broad.mit.edu	37	16	3306561	3306561	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3306561C>T	ENST00000219596.1	-	1	66	c.27G>A	c.(25-27)ctG>ctA	p.L9L	MEFV_ENST00000339854.4_Silent_p.L9L|MEFV_ENST00000536379.1_Silent_p.L9L|MEFV_ENST00000541159.1_Silent_p.L9L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	9	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGGTGGACAGCAGATGGTCAC	0.567																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(25-27)ctG>ctA		Mediterranean fever	Colchicine(DB01394)						87.0	96.0	93.0					16																	3306561		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306561C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.27G>A	16.37:g.3306561C>T						MEFV_ENST00000339854.4_Silent_p.L9L|MEFV_ENST00000536379.1_Silent_p.L9L|MEFV_ENST00000541159.1_Silent_p.L9L	p.L9L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	66	-			9			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.27G>A	CCDS10498.1																																																																																				0.567	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		13	10	0	0	0	1	0	13	10				
GALNT18	374378	broad.mit.edu	37	11	11292756	11292756	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:11292756C>T	ENST00000227756.4	-	11	2170	c.1759G>A	c.(1759-1761)Gtg>Atg	p.V587M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	587	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TTCTGCAACACCAGCTGGAAG	0.627																																						ENST00000227756.4																			0											c.(1759-1761)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							90.0	82.0	85.0					11																	11292756		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11292756C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1759G>A	11.37:g.11292756C>T	ENSP00000227756:p.Val587Met						p.V587M	NM_198516.2	NP_940918.2					11	2170	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1759G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	c	18.35	3.604133	0.66445	.	.	ENSG00000110328	ENST00000227756	T	0.29655	1.56	4.84	4.84	0.62591	Ricin B-related lectin (1);Ricin B lectin (3);	0.084489	0.47455	D	0.000237	T	0.41213	0.1149	M	0.71206	2.165	0.29020	N	0.886315	P	0.45396	0.857	P	0.46144	0.505	T	0.46638	-0.9177	10	0.56958	D	0.05	.	14.6932	0.69101	0.0:1.0:0.0:0.0	.	587	Q6P9A2	GLTL4_HUMAN	M	587	ENSP00000227756:V587M	ENSP00000227756:V587M	V	-	1	0	GALNTL4	11249332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.307000	0.59123	2.232000	0.73038	0.450000	0.29827	GTG		0.627	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		16	31	0	0	0	1	0	16	31				
IREB2	3658	broad.mit.edu	37	15	78777262	78777262	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78777262G>T	ENST00000258886.8	+	12	1722	c.1573G>T	c.(1573-1575)Ggt>Tgt	p.G525C		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	525					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GCTTGCTGCAGGTGGGTTGTG	0.373																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.e12+1		iron-responsive element binding protein 2							129.0	102.0	111.0					15																	78777262		2196	4293	6489	SO:0001630	splice_region_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78777262G>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1573+1G>T	15.37:g.78777262G>T							p.G525_splice	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	12	1722	+			525					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Splice_Site	SNP	ENST00000258886.8	37	c.1573_splice	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063460	0.93898	.	.	ENSG00000136381	ENST00000258886	T	0.20200	2.09	6.02	6.02	0.97574	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79983	-0.1573	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	525	P48200	IREB2_HUMAN	C	525	ENSP00000258886:G525C	ENSP00000258886:G525C	G	+	1	0	IREB2	76564317	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.632000	0.98428	2.857000	0.98124	0.650000	0.86243	GGT		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Missense_Mutation	7	91	1	0	0.0293803	1	0.0295506	7	91				
LCT	3938	broad.mit.edu	37	2	136570440	136570440	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136570440G>A	ENST00000264162.2	-	7	1804	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	598	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCAGCACAATGCCCACGTGCC	0.567																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1792-1794)ggC>ggT		lactase							64.0	55.0	58.0					2																	136570440		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570440G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1794C>T	2.37:g.136570440G>A							p.G598G	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1804	-			598			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1794C>T	CCDS2178.1																																																																																				0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		7	6	0	0	0	1	0	7	6				
FBXW5	54461	broad.mit.edu	37	9	139835726	139835726	+	Silent	SNP	G	G	A	rs367827758	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139835726G>A	ENST00000325285.3	-	8	1513	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	478					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCCTGCTGACGTCCAGGAAGA	0.697													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15062	0.0		0.0	False		,,,				2504	0.001					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1432-1434)gaC>gaT		F-box and WD repeat domain containing 5		G		1,4403	4.2+/-10.8	0,1,2201	34.0	28.0	30.0		1434	-6.8	0.8	9		30	0,8596		0,0,4298	no	coding-synonymous	FBXW5	NM_018998.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		478/567	139835726	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	54461						catalytic activity|protein binding	g.chr9:139835726G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1434C>T	9.37:g.139835726G>A						FBXW5_ENST00000483559.1_5'UTR	p.D478D	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1513	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	478					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	c.1434C>T	CCDS7014.1																																																																																				0.697	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		9	4	0	0	0	1	0	9	4				
PTPRE	5791	broad.mit.edu	37	10	129864363	129864363	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129864363G>A	ENST00000254667.3	+	11	1027	c.748G>A	c.(748-750)Gac>Aac	p.D250N	PTPRE_ENST00000306042.5_Missense_Mutation_p.D192N|PTPRE_ENST00000419012.2_Missense_Mutation_p.D250N|PTPRE_ENST00000430713.2_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	250	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GTACTGGCCCGACCAAGGCTG	0.517																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(748-750)Gac>Aac		protein tyrosine phosphatase, receptor type, E							207.0	167.0	181.0					10																	129864363		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129864363G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.748G>A	10.37:g.129864363G>A	ENSP00000254667:p.Asp250Asn					PTPRE_ENST00000306042.5_Missense_Mutation_p.D192N|PTPRE_ENST00000419012.2_Missense_Mutation_p.D250N|PTPRE_ENST00000430713.2_3'UTR	p.D250N	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			11	1027	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	250			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.748G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846747	0.91277	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.83335	-1.71;-1.71;-1.71	5.18	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.122744	0.53938	D	0.000058	T	0.78329	0.4266	L	0.41710	1.295	0.80722	D	1	B;B;B;B	0.33583	0.418;0.096;0.292;0.096	B;B;B;B	0.33750	0.169;0.092;0.067;0.092	T	0.76594	-0.2902	10	0.33940	T	0.23	.	17.7089	0.88316	0.0:0.0:1.0:0.0	.	228;250;192;250	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	N	250;228;250;192	ENSP00000254667:D250N;ENSP00000402337:D250N;ENSP00000303350:D192N	ENSP00000254667:D250N	D	+	1	0	PTPRE	129754353	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	9.556000	0.98127	2.400000	0.81607	0.655000	0.94253	GAC		0.517	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			49	55	0	0	0	1	0	49	55				
C1orf61	10485	broad.mit.edu	37	1	156376942	156376942	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156376942A>G	ENST00000368243.1	-	6	469	c.353T>C	c.(352-354)aTg>aCg	p.M118T	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	118						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ttggttagacatggagaagga	0.468																																						ENST00000368243.1																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(352-354)aTg>aCg		chromosome 1 open reading frame 61							72.0	63.0	66.0					1																	156376942		2203	4300	6503	SO:0001583	missense	10485					nucleus		g.chr1:156376942A>G		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.353T>C	1.37:g.156376942A>G	ENSP00000357226:p.Met118Thr						p.M118T	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN			6	469	-	Hepatocellular(266;0.158)		118					B1ALL5|B1ALL8	Missense_Mutation	SNP	ENST00000368243.1	37	c.353T>C	CCDS1142.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.522|9.522	1.108496|1.108496	0.20714|0.20714	.|.	.|.	ENSG00000125462|ENSG00000125462	ENST00000368242|ENST00000368243;ENST00000357975	.|.	.|.	.|.	3.92|3.92	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.32160	.|0.358	.|B	.|0.30572	.|0.117	T|T	0.24799|0.24799	-1.0150|-1.0150	5|8	.|0.87932	.|D	.|0	-0.674|-0.674	4.4491|4.4491	0.11612|0.11612	0.596:0.2059:0.0:0.1981|0.596:0.2059:0.0:0.1981	.|.	.|118	.|Q13536	.|CROC4_HUMAN	R|T	150|118;131	.|.	.|ENSP00000350661:M131T	C|M	-|-	1|2	0|0	C1orf61|C1orf61	154643566|154643566	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.138000|0.138000	0.21146|0.21146	0.158000|0.158000	0.16422|0.16422	0.147000|0.147000	0.19030|0.19030	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.468	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075988.1	NM_006365		4	11	0	0	0	1	0	4	11				
PCDHGA1	56114	broad.mit.edu	37	5	140712130	140712130	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712130C>T	ENST00000517417.1	+	1	1879	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			GGGCGAGGTGCGCACGGCGCG	0.697																																						ENST00000517417.1																			0				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						c.(1879-1881)Cgc>Tgc									23.0	28.0	26.0					5																	140712130		2182	4255	6437	SO:0001583	missense	0							g.chr5:140712130C>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.1879C>T	5.37:g.140712130C>T	ENSP00000431083:p.Arg627Cys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627C	p.R627C	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1879C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311597	0.40895	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52754	0.65;0.65	3.92	2.96	0.34315	Cadherin (4);Cadherin-like (1);	0.292105	0.21849	N	0.068210	T	0.62344	0.2420	H	0.96269	3.795	0.33936	D	0.642664	P;P	0.49358	0.923;0.845	B;B	0.44224	0.316;0.444	T	0.81052	-0.1107	10	0.87932	D	0	.	10.8694	0.46875	0.2491:0.7509:0.0:0.0	.	627;627	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	627	ENSP00000431083:R627C;ENSP00000367345:R627C	ENSP00000367345:R627C	R	+	1	0	PCDHGA1	140692314	0.656000	0.27385	1.000000	0.80357	0.968000	0.65278	0.498000	0.22530	2.204000	0.70986	0.580000	0.79431	CGC		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		13	32	0	0	0	1	0	13	32				
TTN	7273	broad.mit.edu	37	2	179633626	179633626	+	Silent	SNP	G	G	A	rs368525666		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179633626G>A	ENST00000591111.1	-	38	9161	c.8937C>T	c.(8935-8937)aaC>aaT	p.N2979N	TTN_ENST00000342992.6_Silent_p.N2979N|TTN_ENST00000360870.5_Silent_p.N2979N|TTN_ENST00000359218.5_Silent_p.N2933N|TTN_ENST00000460472.2_Silent_p.N2933N|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Silent_p.N2979N|TTN_ENST00000342175.6_Silent_p.N2933N|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13311	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N2933N(3)|p.N2979N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAGCGTTGATGTCTT	0.368																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.N2933N(3)|p.N2979N(2)	large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8935-8937)aaC>aaT		titin		G	,,,,	0,4406		0,0,2203	131.0	122.0	125.0		8799,8937,8937,8799,8799	4.3	1.0	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	2933/26927,2979/33424,2979/5605,2933/27052,2933/27119	179633626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633626G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8937C>T	2.37:g.179633626G>A						TTN_ENST00000342175.6_Silent_p.N2933N|TTN_ENST00000360870.5_Silent_p.N2979N|TTN_ENST00000591111.1_Silent_p.N2979N|TTN_ENST00000460472.2_Silent_p.N2933N|TTN_ENST00000342992.6_Silent_p.N2979N|TTN_ENST00000359218.5_Silent_p.N2933N|TTN-AS1_ENST00000585451.1_RNA	p.N2979N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9161	-			2717			Ig-like 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8937C>T																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	32	0	0	0	1	0	18	32				
EFNB3	1949	broad.mit.edu	37	17	7611488	7611488	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7611488G>A	ENST00000226091.2	+	2	732	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	112	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGGATCTCCGCTTCACCATC	0.587																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(334-336)cGc>cAc		ephrin-B3							69.0	68.0	68.0					17																	7611488		2203	4300	6503	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611488G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.335G>A	17.37:g.7611488G>A	ENSP00000226091:p.Arg112His						p.R112H	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			2	732	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	112					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.335G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.942539	0.73672	.	.	ENSG00000108947	ENST00000226091	D	0.94184	-3.37	4.68	4.68	0.58851	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.75615	2.305	0.41661	D	0.989188	D	0.89917	1.0	D	0.71414	0.973	D	0.96930	0.9680	10	0.87932	D	0	-17.0011	16.525	0.84328	0.0:0.0:1.0:0.0	.	112	Q15768	EFNB3_HUMAN	H	112	ENSP00000226091:R112H	ENSP00000226091:R112H	R	+	2	0	EFNB3	7552213	0.998000	0.40836	1.000000	0.80357	0.825000	0.46686	4.318000	0.59190	2.420000	0.82092	0.290000	0.19541	CGC		0.587	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		24	46	0	0	0	1	0	24	46				
ILKAP	80895	broad.mit.edu	37	2	239082199	239082199	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239082199C>T	ENST00000254654.3	-	10	1107	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	311	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CAGCTGGCAGCGTCTGATGTC	0.542																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(931-933)cGc>cAc		integrin-linked kinase-associated serine/threonine phosphatase							76.0	76.0	76.0					2																	239082199		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239082199C>T	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.932G>A	2.37:g.239082199C>T	ENSP00000254654:p.Arg311His						p.R311H	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	10	1107	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	311			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.932G>A	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358906	0.95854	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.16897	2.31;2.31	5.22	5.22	0.72569	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.43923	1.385	0.80722	D	1	D	0.62365	0.991	P	0.55667	0.781	T	0.01456	-1.1350	10	0.72032	D	0.01	0.0105	17.559	0.87901	0.0:1.0:0.0:0.0	.	311	Q9H0C8	ILKAP_HUMAN	H	311;128	ENSP00000254654:R311H;ENSP00000406254:R128H	ENSP00000254654:R311H	R	-	2	0	ILKAP	238746938	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.451000	0.82905	0.563000	0.77884	CGC		0.542	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		10	16	0	0	0	1	0	10	16				
NRF1	4899	broad.mit.edu	37	7	129357154	129357154	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:129357154G>T	ENST00000393232.1	+	9	1278	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	NRF1_ENST00000393231.3_Missense_Mutation_p.E387D|NRF1_ENST00000311967.2_Missense_Mutation_p.E387D|NRF1_ENST00000223190.4_Missense_Mutation_p.E387D|NRF1_ENST00000393230.2_Missense_Mutation_p.E387D|NRF1_ENST00000353868.4_Missense_Mutation_p.E321D|NRF1_ENST00000539636.1_Missense_Mutation_p.E226D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	387	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGTTGGCAGAGGCCGCAGTGG	0.567																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1159-1161)gaG>gaT		nuclear respiratory factor 1							75.0	67.0	70.0					7																	129357154		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357154G>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1161G>T	7.37:g.129357154G>T	ENSP00000376924:p.Glu387Asp					NRF1_ENST00000311967.2_Missense_Mutation_p.E387D|NRF1_ENST00000353868.4_Missense_Mutation_p.E321D|NRF1_ENST00000393231.3_Missense_Mutation_p.E387D|NRF1_ENST00000539636.1_Missense_Mutation_p.E226D|NRF1_ENST00000393230.2_Missense_Mutation_p.E387D|NRF1_ENST00000223190.4_Missense_Mutation_p.E387D	p.E387D	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			9	1278	+			387			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1161G>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587373	0.46110	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	3.69	0.42338	.	0.089268	0.85682	D	0.000000	T	0.38639	0.1048	N	0.20685	0.6	0.53688	D	0.999977	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	9	0.30078	T	0.28	-3.4406	8.8483	0.35184	0.3005:0.0:0.6995:0.0	.	387;387	Q96AN2;Q16656	.;NRF1_HUMAN	D	387;321;226;387;387;387;387	.	ENSP00000223190:E387D	E	+	3	2	NRF1	129144390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.745000	0.26259	0.685000	0.31468	0.650000	0.86243	GAG		0.567	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		7	19	1	0	0.00307968	1	0.00311927	7	19				
RANBP3	8498	broad.mit.edu	37	19	5914990	5914990	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5914990G>A	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000222125.5_Missense_Mutation_p.A101T|CAPS_ENST00000588776.1_Missense_Mutation_p.A187T|CAPS_ENST00000452990.2_Missense_Mutation_p.A101T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CATCGCAGCTGCATTTGCCAA	0.682																																						ENST00000588776.1																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(559-561)Gca>Aca		calcyphosine							59.0	59.0	59.0					19																	5914990		2203	4299	6502	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5914990G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914990G>A						CAPS_ENST00000452990.2_Missense_Mutation_p.A101T|CAPS_ENST00000222125.5_Missense_Mutation_p.A101T	p.A187T			Q13938	CAYP1_HUMAN			4	2926	+			101					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.559G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007573	0.93287	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.74002	-0.8;-0.62	4.99	4.99	0.66335	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.87337	0.6152	M	0.84846	2.72	0.50813	D	0.999897	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.89539	0.3791	10	0.87932	D	0	-19.1075	15.7541	0.78011	0.0:0.0:1.0:0.0	.	234;101	Q8NF12;Q13938	.;CAYP1_HUMAN	T	234;101;101	ENSP00000222125:A101T;ENSP00000403263:A101T	ENSP00000222125:A101T	A	+	1	0	CAPS	5865990	1.000000	0.71417	0.053000	0.19242	0.855000	0.48748	8.254000	0.89844	2.302000	0.77476	0.555000	0.69702	GCA		0.682	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		22	23	0	0	0	1	0	22	23				
MROH5	389690	broad.mit.edu	37	8	142486189	142486189	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142486189G>T	ENST00000430863.1	-	0	1584					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		AACACGCTGCGGAAGCAGGTG	0.617																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							19.0	25.0	23.0					8																	142486189		2040	4196	6236			389690							g.chr8:142486189G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486189G>T								NM_207414.2	NP_997297.2					0	1584	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.617	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		5	6	1	0	0.184627	1	0.185007	5	6				
NUP37	79023	broad.mit.edu	37	12	102492967	102492967	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102492967G>A	ENST00000552283.1	-	5	505	c.366C>T	c.(364-366)ggC>ggT	p.G122G	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.G122G			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	122					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AATCGGTATGGCCCTCTAAAA	0.373																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(364-366)ggC>ggT		nucleoporin 37kDa							98.0	90.0	93.0					12																	102492967		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102492967G>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.366C>T	12.37:g.102492967G>A						NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.G122G	p.G122G			Q8NFH4	NUP37_HUMAN			5	505	-			122					Q9H644	Silent	SNP	ENST00000552283.1	37	c.366C>T	CCDS9089.1																																																																																				0.373	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		24	38	0	0	0	1	0	24	38				
RYR1	6261	broad.mit.edu	37	19	38945986	38945986	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38945986G>A	ENST00000359596.3	+	14	1552	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RYR1_ENST00000360985.3_Missense_Mutation_p.V518M|RYR1_ENST00000355481.4_Missense_Mutation_p.V518M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	518			V -> A (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAAGAGATTGTGAATCTTCT	0.542																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1552-1554)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						118.0	112.0	114.0					19																	38945986		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38945986G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1552G>A	19.37:g.38945986G>A	ENSP00000352608:p.Val518Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V518M|RYR1_ENST00000359596.3_Missense_Mutation_p.V518M	p.V518M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		14	1683	+	all_cancers(60;7.91e-06)		518					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1552G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094788	0.36952	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95853	-3.83;-3.83;-3.83	4.12	4.12	0.48240	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000014	D	0.96488	0.8854	L	0.56769	1.78	0.40077	D	0.976089	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.986	D	0.95780	0.8816	10	0.38643	T	0.18	.	12.4749	0.55807	0.0:0.0:0.8323:0.1677	.	518;518	P21817-2;P21817	.;RYR1_HUMAN	M	518	ENSP00000352608:V518M;ENSP00000347667:V518M;ENSP00000354254:V518M	ENSP00000347667:V518M	V	+	1	0	RYR1	43637826	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	2.538000	0.45710	2.127000	0.65507	0.407000	0.27541	GTG		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			24	38	0	0	0	1	0	24	38				
UHRF1BP1L	23074	broad.mit.edu	37	12	100433475	100433475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100433475G>A	ENST00000279907.7	-	20	4386	c.4174C>T	c.(4174-4176)Caa>Taa	p.Q1392*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q1042*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1392										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACACTGCGTTGTTTCTTCAGA	0.448																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4174-4176)Caa>Taa		UHRF1 binding protein 1-like							141.0	113.0	122.0					12																	100433475		2203	4300	6503	SO:0001587	stop_gained	23074							g.chr12:100433475G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4174C>T	12.37:g.100433475G>A	ENSP00000279907:p.Gln1392*					UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q1042*	p.Q1392*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			20	4386	-			1392					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.4174C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169480	0.38315	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.08	3.21	0.36854	.	1.187420	0.05674	N	0.589177	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	0.2255	6.7764	0.23622	0.0931:0.0:0.7341:0.1728	.	.	.	.	X	1392;1042	.	ENSP00000279907:Q1392X	Q	-	1	0	UHRF1BP1L	98957606	0.381000	0.25140	0.008000	0.14137	0.564000	0.35744	1.935000	0.40173	1.119000	0.41883	0.655000	0.94253	CAA		0.448	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		22	40	0	0	0	1	0	22	40				
SALL4	57167	broad.mit.edu	37	20	50407775	50407775	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:50407775C>T	ENST00000217086.4	-	2	1358	c.1247G>A	c.(1246-1248)gGt>gAt	p.G416D	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	416					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAGCGATGACCACAGACAGA	0.542																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1246-1248)gGt>gAt		spalt-like transcription factor 4							60.0	53.0	55.0					20																	50407775		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407775C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1247G>A	20.37:g.50407775C>T	ENSP00000217086:p.Gly416Asp					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.G416D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1358	-			416					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1247G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091989	0.76756	.	.	ENSG00000101115	ENST00000217086	T	0.07444	3.19	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000275	T	0.17619	0.0423	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01899	-1.1251	10	0.72032	D	0.01	-17.5081	15.3359	0.74255	0.14:0.86:0.0:0.0	.	416	Q9UJQ4	SALL4_HUMAN	D	416	ENSP00000217086:G416D	ENSP00000217086:G416D	G	-	2	0	SALL4	49841182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.466000	0.83321	0.655000	0.94253	GGT		0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			25	34	0	0	0	1	0	25	34				
MRPS10	55173	broad.mit.edu	37	6	42185562	42185562	+	Missense_Mutation	SNP	G	G	A	rs141744276	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42185562G>A	ENST00000053468.3	-	1	41	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	9						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCGGCACACAGCACCGAACGC	0.612													G|||	10	0.00199681	0.0	0.0	5008	,	,		14998	0.0		0.001	False		,,,				2504	0.0092					ENST00000053468.3																			0				endometrium(1)|lung(1)	2						c.(25-27)gCt>gTt		mitochondrial ribosomal protein S10		G	VAL/ALA	0,4406		0,0,2203	24.0	28.0	27.0		26	1.2	0.0	6	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MRPS10	NM_018141.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	9/202	42185562	2,13004	2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42185562G>A		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.26C>T	6.37:g.42185562G>A	ENSP00000053468:p.Ala9Val						p.A9V	NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		1	41	-	Colorectal(47;0.196)		9					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.26C>T	CCDS4866.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.65	2.001662	0.35320	0.0	2.33E-4	ENSG00000048544	ENST00000053468	.	.	.	5.26	1.2	0.21068	.	1.701420	0.03255	N	0.182437	T	0.11879	0.0289	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17653	-1.0362	9	0.46703	T	0.11	-0.0266	4.523	0.11968	0.3442:0.1589:0.4969:0.0	.	9	P82664	RT10_HUMAN	V	9	.	ENSP00000053468:A9V	A	-	2	0	MRPS10	42293540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.016000	0.12613	0.619000	0.30197	-0.137000	0.14449	GCT		0.612	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			6	12	0	0	0	1	0	6	12				
PERP	64065	broad.mit.edu	37	6	138413380	138413380	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138413380T>C	ENST00000421351.3	-	3	551	c.381A>G	c.(379-381)gtA>gtG	p.V127V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	127					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGGGGTAAATTACCAGGGAGA	0.468																																						ENST00000421351.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(379-381)gtA>gtG		PERP, TP53 apoptosis effector							76.0	77.0	77.0					6																	138413380		2203	4300	6503	SO:0001819	synonymous_variant	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138413380T>C	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.381A>G	6.37:g.138413380T>C							p.V127V	NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	3	551	-	Breast(32;0.0799)|Colorectal(23;0.24)		127					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Silent	SNP	ENST00000421351.3	37	c.381A>G	CCDS5188.1																																																																																				0.468	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121		4	22	0	0	0	1	0	4	22				
C10orf71	118461	broad.mit.edu	37	10	50530613	50530613	+	Missense_Mutation	SNP	G	G	A	rs376665109		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:50530613G>A	ENST00000374144.3	+	3	311	c.23G>A	c.(22-24)tGc>tAc	p.C8Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.C8Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	8										endometrium(1)	1						AATAAGAAGTGCACAGACGCG	0.542																																						ENST00000374144.3																			0				endometrium(1)	1						c.(22-24)tGc>tAc		chromosome 10 open reading frame 71							36.0	38.0	37.0					10																	50530613		2142	4247	6389	SO:0001583	missense	118461							g.chr10:50530613G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.23G>A	10.37:g.50530613G>A	ENSP00000363259:p.Cys8Tyr					C10orf71_ENST00000323868.4_Missense_Mutation_p.C8Y	p.C8Y			Q711Q0	CJ071_HUMAN			3	311	+			8					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.23G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558412	0.13436	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.13420	2.59;3.72	5.13	4.01	0.46588	.	0.382359	0.22366	N	0.061001	T	0.08626	0.0214	L	0.39633	1.23	0.27641	N	0.947708	B	0.13594	0.008	B	0.12156	0.007	T	0.40421	-0.9564	10	0.02654	T	1	.	6.853	0.24024	0.2015:0.0:0.7985:0.0	.	8	Q711Q0-3	.	Y	8	ENSP00000318713:C8Y;ENSP00000363259:C8Y	ENSP00000318713:C8Y	C	+	2	0	C10orf71	50200619	0.994000	0.37717	0.960000	0.40013	0.882000	0.50991	2.814000	0.48010	2.396000	0.81511	0.557000	0.71058	TGC		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		5	2	0	0	0	1	0	5	2				
IL20RB	53833	broad.mit.edu	37	3	136699336	136699336	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136699336G>T	ENST00000329582.4	+	2	366	c.117G>T	c.(115-117)caG>caT	p.Q39H	IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	39	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCCCCTCAGAACCTCTCTG	0.512																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(115-117)caG>caT		interleukin 20 receptor beta							208.0	196.0	200.0					3																	136699336		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136699336G>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.117G>T	3.37:g.136699336G>T	ENSP00000328133:p.Gln39His					IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_5'UTR|IL20RB-AS1_ENST00000462176.2_RNA	p.Q39H	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			2	366	+			39			Fibronectin type-III 1.		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.117G>T	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401717	0.62288	.	.	ENSG00000174564	ENST00000329582	T	0.75367	-0.93	5.58	4.69	0.59074	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.812498	0.10938	N	0.617617	D	0.82641	0.5081	M	0.74647	2.275	0.80722	D	1	D	0.61080	0.989	P	0.57371	0.819	T	0.78964	-0.1996	10	0.51188	T	0.08	-6.0764	10.792	0.46438	0.0886:0.0:0.9114:0.0	.	39	Q6UXL0	I20RB_HUMAN	H	39	ENSP00000328133:Q39H	ENSP00000328133:Q39H	Q	+	3	2	IL20RB	138182026	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.689000	0.37700	1.332000	0.45431	0.650000	0.86243	CAG		0.512	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		63	79	1	0	1.41401e-22	1	1.57312e-22	63	79				
PAQR9	344838	broad.mit.edu	37	3	142681178	142681178	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142681178C>T	ENST00000340634.3	-	1	1000	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	334						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GAGGAACTGGCGCAGGCCCTC	0.592																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(1000-1002)cGc>cAc		progestin and adipoQ receptor family member IX							72.0	82.0	79.0					3																	142681178		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681178C>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.1001G>A	3.37:g.142681178C>T	ENSP00000341564:p.Arg334His						p.R334H	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	1000	-			334					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.1001G>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821286	0.50633	.	.	ENSG00000188582	ENST00000340634	T	0.27720	1.65	5.62	4.74	0.60224	.	0.271361	0.27876	N	0.017495	T	0.19406	0.0466	N	0.08118	0	0.30950	N	0.724878	D	0.54964	0.969	P	0.46320	0.512	T	0.08066	-1.0740	10	0.62326	D	0.03	-23.5741	9.2887	0.37773	0.0:0.5666:0.3562:0.0772	.	334	Q6ZVX9	PAQR9_HUMAN	H	334	ENSP00000341564:R334H	ENSP00000341564:R334H	R	-	2	0	PAQR9	144163868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.322000	0.33689	1.348000	0.45733	0.650000	0.86243	CGC		0.592	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		31	51	0	0	0	1	0	31	51				
ZNF141	7700	broad.mit.edu	37	4	367133	367133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:367133C>T	ENST00000240499.7	+	4	1056	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	303					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(907-909)Cga>Tga		zinc finger protein 141							75.0	85.0	82.0					4																	367133		2202	4299	6501	SO:0001587	stop_gained	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367133C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.907C>T	4.37:g.367133C>T	ENSP00000240499:p.Arg303*					ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.R303*	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1056	+			303					Q6DK07	Nonsense_Mutation	SNP	ENST00000240499.7	37	c.907C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219531	0.79464	.	.	ENSG00000131127	ENST00000240499	.	.	.	1.24	-2.48	0.06423	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1529	0.20322	0.5097:0.4902:0.0:0.0	.	.	.	.	X	303	.	.	R	+	1	2	ZNF141	357133	0.000000	0.05858	0.186000	0.23195	0.721000	0.41392	-6.005000	0.00086	-0.384000	0.07845	-0.821000	0.03111	CGA		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		35	68	0	0	0	1	0	35	68				
GFPT2	9945	broad.mit.edu	37	5	179740882	179740882	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179740882G>A	ENST00000253778.8	-	14	1525	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	452	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGATGGAGCTGCCCACGGTGT	0.711																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1354-1356)ggC>ggT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						19.0	25.0	23.0					5																	179740882		2186	4282	6468	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179740882G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1356C>T	5.37:g.179740882G>A							p.G452G	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1525	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	452			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1356C>T	CCDS43411.1																																																																																				0.711	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		8	8	0	0	0	1	0	8	8				
CIPC	85457	broad.mit.edu	37	14	77576214	77576214	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77576214G>A	ENST00000361786.2	+	3	513	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	RP11-463C8.4_ENST00000557752.1_Intron|KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		66					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CATGCTGAGCGCCTTAGGCTG	0.547																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(196-198)Gcc>Acc		KIAA1737							122.0	113.0	116.0					14																	77576214		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77576214G>A																												ENST00000361786.2:c.196G>A	14.37:g.77576214G>A	ENSP00000355319:p.Ala66Thr					KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Missense_Mutation_p.A66T|RP11-463C8.4_ENST00000557752.1_Intron	p.A66T	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	3	513	+			66					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.196G>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897649	0.33535	.	.	ENSG00000198894	ENST00000361786;ENST00000555611;ENST00000554658;ENST00000557115;ENST00000554447;ENST00000555200	T;T;T;T;T;T	0.44881	1.53;0.91;0.94;0.94;0.94;0.94	6.17	3.03	0.35002	.	0.641580	0.15760	N	0.245994	T	0.16214	0.0390	N	0.05554	-0.025	0.32414	N	0.55024	B	0.20261	0.043	B	0.06405	0.002	T	0.20773	-1.0265	10	0.08837	T	0.75	-18.8138	3.2832	0.06922	0.2971:0.2121:0.4907:0.0	.	66	Q9C0C6	K1737_HUMAN	T	66	ENSP00000355319:A66T;ENSP00000450972:A66T;ENSP00000451522:A66T;ENSP00000452589:A66T;ENSP00000452380:A66T;ENSP00000451493:A66T	ENSP00000355319:A66T	A	+	1	0	KIAA1737	76645967	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.140000	0.16056	1.616000	0.50265	0.655000	0.94253	GCC		0.547	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			29	29	0	0	0	1	0	29	29				
STK4	6789	broad.mit.edu	37	20	43703711	43703711	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43703711C>T	ENST00000372806.3	+	11	1453	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	453	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCCCTGGACCCCATGATGGAG	0.517																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1357-1359)cCc>cTc		serine/threonine kinase 4							60.0	57.0	58.0					20																	43703711		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703711C>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1358C>T	20.37:g.43703711C>T	ENSP00000361892:p.Pro453Leu					STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L	p.P453L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1453	+		Myeloproliferative disorder(115;0.0122)	453			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1358C>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540514	0.65085	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.71698	-0.59;0.39	5.81	5.81	0.92471	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	L	0.49350	1.555	0.80722	D	1	B;B	0.18013	0.02;0.025	B;B	0.21360	0.033;0.034	T	0.62139	-0.6917	10	0.37606	T	0.19	.	20.074	0.97736	0.0:1.0:0.0:0.0	.	398;453	F5H5B4;Q13043	.;STK4_HUMAN	L	453;398	ENSP00000361892:P453L;ENSP00000443514:P398L	ENSP00000361892:P453L	P	+	2	0	STK4	43137125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.432000	0.80349	2.746000	0.94184	0.655000	0.94253	CCC		0.517	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		16	36	0	0	0	1	0	16	36				
KHK	3795	broad.mit.edu	37	2	27315233	27315233	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27315233C>T	ENST00000260599.6	+	2	639	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Silent_p.N42N	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	42					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGAGGCAACGCGTCCAACT	0.617																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(124-126)aaC>aaT		ketohexokinase (fructokinase)							88.0	75.0	79.0					2																	27315233		2203	4300	6503	SO:0001819	synonymous_variant	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27315233C>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.126C>T	2.37:g.27315233C>T						KHK_ENST00000260598.5_Silent_p.N42N|KHK_ENST00000490823.1_3'UTR	p.N42N	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			2	639	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	ENST00000260599.6	37	c.126C>T	CCDS1734.1																																																																																				0.617	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			30	43	0	0	0	1	0	30	43				
CNTN4	152330	broad.mit.edu	37	3	2944670	2944670	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	396	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTTCCAACGCAGAGCTTA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1186-1188)aaC>aaT		contactin 4							86.0	83.0	84.0					3																	2944670		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2944670C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1188C>T	3.37:g.2944670C>T						CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000427331.1_Silent_p.N396N	p.N396N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	11	1572	+		Ovarian(110;0.156)	396			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1188C>T	CCDS43041.1																																																																																				0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			8	22	0	0	0	1	0	8	22				
BTN2A3P	54718	broad.mit.edu	37	6	26423271	26423271	+	RNA	SNP	C	C	T	rs538897008		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26423271C>T	ENST00000466808.2	+	0	190							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CATGGAGGTGCGGTGGTTCCA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000466808.2																			0																				214.0	171.0	186.0					6																	26423271		2203	4300	6503			0							g.chr6:26423271C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423271C>T														0	190	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.547	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		10	22	0	0	0	1	0	10	22				
SCN2A	6326	broad.mit.edu	37	2	166166848	166166848	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166166848T>C	ENST00000375437.2	+	7	1003	c.713T>C	c.(712-714)gTg>gCg	p.V238A	SCN2A_ENST00000375427.2_Missense_Mutation_p.V238A|SCN2A_ENST00000283256.6_Missense_Mutation_p.V238A|SCN2A_ENST00000357398.3_Missense_Mutation_p.V238A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	238					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGACCATTGTGGGGGCCCTG	0.423																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(712-714)gTg>gCg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						190.0	191.0	191.0					2																	166166848		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166166848T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.713T>C	2.37:g.166166848T>C	ENSP00000364586:p.Val238Ala					SCN2A_ENST00000375427.2_Missense_Mutation_p.V238A|SCN2A_ENST00000283256.6_Missense_Mutation_p.V238A|SCN2A_ENST00000375437.2_Missense_Mutation_p.V238A	p.V238A			Q99250	SCN2A_HUMAN			7	1003	+			238					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.713T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584806	0.65992	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24;-5.24	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.56097	D	0.000022	D	0.99233	0.9733	M	0.90814	3.15	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	D	0.99201	1.0873	10	0.87932	D	0	.	15.0437	0.71811	0.0:0.0:0.0:1.0	.	238;238	Q99250-2;Q99250	.;SCN2A_HUMAN	A	238	ENSP00000406454:V238A;ENSP00000364586:V238A;ENSP00000349973:V238A;ENSP00000283256:V238A;ENSP00000364576:V238A	ENSP00000283256:V238A	V	+	2	0	SCN2A	165875094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.031000	0.59945	0.455000	0.32223	GTG		0.423	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		42	103	0	0	0	1	0	42	103				
IL20RB	53833	broad.mit.edu	37	3	136714374	136714374	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:136714374C>T	ENST00000329582.4	+	6	1050	c.801C>T	c.(799-801)ccC>ccT	p.P267P	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	267					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTTGCCCCGTGGTGGTCC	0.522																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(799-801)ccC>ccT		interleukin 20 receptor beta							263.0	263.0	263.0					3																	136714374		2203	4300	6503	SO:0001819	synonymous_variant	53833					integral to membrane	receptor activity	g.chr3:136714374C>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.801C>T	3.37:g.136714374C>T						IL20RB_ENST00000309741.5_3'UTR	p.P267P	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			6	1050	+			267					B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	ENST00000329582.4	37	c.801C>T	CCDS3093.1																																																																																				0.522	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		89	128	0	0	0	1	0	89	128				
SLC35G1	159371	broad.mit.edu	37	10	95660860	95660860	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:95660860G>A	ENST00000427197.1	+	3	772	c.711G>A	c.(709-711)tcG>tcA	p.S237S	SLC35G1_ENST00000371408.3_Silent_p.S236S	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	237	EamA 2.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTGCTGCATCGACTCTAGTTA	0.428																																						ENST00000371408.3																			0											c.(706-708)tcG>tcA		solute carrier family 35, member G1							125.0	117.0	120.0					10																	95660860		2203	4300	6503	SO:0001819	synonymous_variant	159371					integral to membrane		g.chr10:95660860G>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.711G>A	10.37:g.95660860G>A						SLC35G1_ENST00000427197.1_Silent_p.S237S	p.S236S			Q2M3R5	TMM20_HUMAN			3	769	+			237			DUF6 2.		Q86YG5|Q8NBA5	Silent	SNP	ENST00000427197.1	37	c.708G>A	CCDS44459.1																																																																																				0.428	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		36	44	0	0	0	1	0	36	44				
NLRP13	126204	broad.mit.edu	37	19	56424065	56424065	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:56424065G>A	ENST00000342929.3	-	5	1117	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A373V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	373	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CACTAATGAGGCCTTAAGATC	0.438																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1117-1119)gCc>gTc		NLR family, pyrin domain containing 13							120.0	114.0	116.0					19																	56424065		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424065G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1118C>T	19.37:g.56424065G>A	ENSP00000343891:p.Ala373Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.A373V	p.A373V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1142	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	373			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1118C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206808	0.09704	.	.	ENSG00000173572	ENST00000342929	T	0.78816	-1.21	2.81	-5.62	0.02481	.	.	.	.	.	T	0.53465	0.1798	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.29716	0.106	T	0.44952	-0.9294	9	0.30078	T	0.28	.	5.8513	0.18694	0.0:0.5054:0.3032:0.1914	.	373	Q86W25	NAL13_HUMAN	V	373	ENSP00000343891:A373V	ENSP00000343891:A373V	A	-	2	0	NLRP13	61115877	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.313000	0.01126	-1.299000	0.02344	-1.181000	0.01715	GCC		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		45	109	0	0	0	1	0	45	109				
AGAP11	119385	broad.mit.edu	37	10	88761405	88761405	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88761405C>T	ENST00000444431.1	+	0	2535				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ATCTACTGAGCGTTTCAGTCA	0.368																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							50.0	38.0	42.0					10																	88761405		692	1590	2282			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88761405C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88761405C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2535	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.368	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		42	95	0	0	0	1	0	42	95				
AMPD1	270	broad.mit.edu	37	1	115217476	115217476	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:115217476G>A	ENST00000520113.2	-	13	1811	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	AMPD1_ENST00000353928.6_Missense_Mutation_p.T566M|AMPD1_ENST00000369538.3_Missense_Mutation_p.T595M			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	599					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GAACAGAAACGTATTCATGCC	0.438																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1783-1785)aCg>aTg		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						108.0	99.0	102.0					1																	115217476		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115217476G>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1796C>T	1.37:g.115217476G>A	ENSP00000430075:p.Thr599Met					AMPD1_ENST00000520113.2_Missense_Mutation_p.T599M|AMPD1_ENST00000353928.6_Missense_Mutation_p.T566M	p.T595M	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1831	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	566					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1784C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407123	0.62399	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85484	-1.99;-1.99;-1.99	5.99	5.99	0.97316	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93955	0.7235	10	0.87932	D	0	-17.8606	20.4777	0.99188	0.0:0.0:1.0:0.0	.	595;566	Q5TF02;P23109	.;AMPD1_HUMAN	M	599;595;566	ENSP00000430075:T599M;ENSP00000358551:T595M;ENSP00000316520:T566M	ENSP00000316520:T566M	T	-	2	0	AMPD1	115018999	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	9.752000	0.98900	2.840000	0.97914	0.655000	0.94253	ACG		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			12	26	0	0	0	1	0	12	26				
ACN9	57001	broad.mit.edu	37	7	96810494	96810494	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:96810494T>C	ENST00000432641.2	+	2	1479	c.345T>C	c.(343-345)ttT>ttC	p.F115F	ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ATAGGCAATTTAGTATTTCTG	0.358																																						ENST00000432641.2																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10						c.(343-345)ttT>ttC		ACN9 homolog (S. cerevisiae)							46.0	49.0	48.0					7																	96810494		2202	4300	6502	SO:0001819	synonymous_variant	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810494T>C	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.345T>C	7.37:g.96810494T>C						ACN9_ENST00000479853.1_3'UTR|ACN9_ENST00000360382.4_3'UTR	p.F115F	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN			2	1479	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		115						Silent	SNP	ENST00000432641.2	37	c.345T>C	CCDS5648.1																																																																																				0.358	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3	NM_020186		9	21	0	0	0	1	0	9	21				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121129791	121129791	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:121129791G>A	ENST00000437515.1	-	0	329					NR_104189.1																						TGAAGGACAGGCATTGAATAT	0.443																																						ENST00000437515.1																			0																																																			0							g.chr1:121129791G>A																													1.37:g.121129791G>A														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.443	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	5	0	0	0	1	0	7	5				
ADARB2	105	broad.mit.edu	37	10	1279710	1279710	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:1279710A>G	ENST00000381312.1	-	6	1764	c.1439T>C	c.(1438-1440)cTc>cCc	p.L480P	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	480	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAGATGGAAGAGGATGTTCTC	0.547																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1438-1440)cTc>cCc		adenosine deaminase, RNA-specific, B2 (non-functional)							160.0	136.0	144.0					10																	1279710		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1279710A>G	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1439T>C	10.37:g.1279710A>G	ENSP00000370713:p.Leu480Pro					ADARB2_ENST00000469464.1_5'UTR	p.L480P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	6	1764	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	480			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1439T>C	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	A	7.368	0.626304	0.14257	.	.	ENSG00000185736	ENST00000381312	D	0.93659	-3.26	5.54	4.39	0.52855	Adenosine deaminase/editase (3);	0.133130	0.50627	D	0.000104	D	0.92515	0.7623	M	0.79258	2.445	0.80722	D	1	B	0.17465	0.022	B	0.23852	0.049	D	0.88666	0.3192	10	0.34782	T	0.22	-33.3867	12.6804	0.56918	0.8619:0.1381:0.0:0.0	.	480	Q9NS39	RED2_HUMAN	P	480	ENSP00000370713:L480P	ENSP00000370713:L480P	L	-	2	0	ADARB2	1269710	1.000000	0.71417	0.942000	0.38095	0.072000	0.16883	3.805000	0.55575	0.905000	0.36596	-0.460000	0.05396	CTC		0.547	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		32	48	0	0	0	1	0	32	48				
ATP6V0A4	50617	broad.mit.edu	37	7	138455972	138455972	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:138455972G>A	ENST00000310018.2	-	3	303	c.21C>T	c.(19-21)agC>agT	p.S7S	ATP6V0A4_ENST00000393054.1_Silent_p.S7S|ATP6V0A4_ENST00000353492.4_Silent_p.S7S|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	7					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACATCTCCTCGCTTCGAAACA	0.438																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(19-21)agC>agT		ATPase, H+ transporting, lysosomal V0 subunit a4							152.0	149.0	150.0					7																	138455972		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138455972G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.21C>T	7.37:g.138455972G>A						ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.S7S|ATP6V0A4_ENST00000353492.4_Silent_p.S7S	p.S7S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			3	303	-			7					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.21C>T	CCDS5849.1																																																																																				0.438	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		57	81	0	0	0	1	0	57	81				
PRCC	5546	broad.mit.edu	37	1	156737869	156737869	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156737869G>A	ENST00000271526.4	+	1	578	c.306G>A	c.(304-306)gcG>gcA	p.A102A	PRCC_ENST00000353233.3_Silent_p.A102A|HDGF_ENST00000465180.1_5'Flank|PRCC_ENST00000491853.1_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	102					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGAAGCGGCGGGAGTTGGGG	0.726			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(304-306)gcG>gcA		papillary renal cell carcinoma (translocation-associated)							6.0	8.0	7.0					1																	156737869		2132	4171	6303	SO:0001819	synonymous_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156737869G>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.306G>A	1.37:g.156737869G>A						PRCC_ENST00000491853.1_Intron|PRCC_ENST00000353233.3_Silent_p.A102A	p.A102A	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			1	578	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		102					A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	ENST00000271526.4	37	c.306G>A	CCDS1157.1																																																																																				0.726	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		3	7	0	0	0	1	0	3	7				
DGKZ	8525	broad.mit.edu	37	11	46389291	46389291	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46389291G>T	ENST00000454345.1	+	4	1052	c.927G>T	c.(925-927)agG>agT	p.R309S	DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S|DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	309					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GTGTAGCCAGGATGCTGGTGA	0.647											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(925-927)agG>agT		diacylglycerol kinase, zeta							107.0	89.0	95.0					11																	46389291		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46389291G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.927G>T	11.37:g.46389291G>T	ENSP00000412178:p.Arg309Ser		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_ENST00000395574.3_Missense_Mutation_p.R86S|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.R120S|DGKZ_ENST00000343674.6_Missense_Mutation_p.R137S|DGKZ_ENST00000421244.2_Missense_Mutation_p.R120S|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.R120S|DGKZ_ENST00000532868.2_Missense_Mutation_p.R124S|DGKZ_ENST00000456247.2_Missense_Mutation_p.R120S	p.R309S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	4	1052	+			309					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.927G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310325	0.60414	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.83755	-1.76;2.67;2.73;3.67;-1.76;2.56;2.66;1.97;3.0	5.16	4.24	0.50183	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.192570	0.56097	D	0.000031	T	0.70064	0.3181	N	0.24115	0.695	0.24938	N	0.991876	B;B;B;B;B;B;B;B;B;B	0.32467	0.311;0.311;0.157;0.009;0.02;0.053;0.053;0.077;0.372;0.151	B;B;B;B;B;B;B;B;B;B	0.30316	0.066;0.066;0.066;0.033;0.04;0.096;0.096;0.066;0.114;0.066	T	0.64711	-0.6343	10	0.62326	D	0.03	.	8.6562	0.34064	0.2316:0.0:0.7684:0.0	.	120;85;86;120;309;120;120;86;86;137	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	S	137;86;85;120;120;120;120;309;30	ENSP00000343065:R137S;ENSP00000378941:R86S;ENSP00000436273:R85S;ENSP00000436291:R120S;ENSP00000395684:R120S;ENSP00000391021:R120S;ENSP00000320340:R120S;ENSP00000412178:R309S;ENSP00000435763:R30S	ENSP00000320340:R120S	R	+	3	2	DGKZ	46345867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.916000	0.28651	1.319000	0.45190	0.555000	0.69702	AGG		0.647	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		13	12	1	0	0.000151284	1	0.000155038	13	12				
AFG3L2	10939	broad.mit.edu	37	18	12351331	12351331	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:12351331C>A	ENST00000269143.3	-	11	1631	c.1400G>T	c.(1399-1401)gGg>gTg	p.G467V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	467					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GTCGAAACGCCCCGGCCTAAG	0.458																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1399-1401)gGg>gTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						78.0	72.0	74.0					18																	12351331		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351331C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1400G>T	18.37:g.12351331C>A	ENSP00000269143:p.Gly467Val						p.G467V	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			11	1631	-			467					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1400G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206453	0.95033	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.82344	-1.6	5.81	5.81	0.92471	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	H	0.99117	4.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97158	0.9836	10	0.87932	D	0	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	467	Q9Y4W6	AFG32_HUMAN	V	467;482	ENSP00000269143:G467V	ENSP00000269143:G467V	G	-	2	0	AFG3L2	12341331	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.750000	0.85110	2.752000	0.94435	0.557000	0.71058	GGG		0.458	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		11	30	1	0	5.50884e-06	1	5.70893e-06	11	30				
LIPE	3991	broad.mit.edu	37	19	42910406	42910406	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42910406G>A	ENST00000244289.4	-	7	2548	c.2272C>T	c.(2272-2274)Ctg>Ttg	p.L758L	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	758					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GCAGGCTGCAGCATTGTGGCC	0.662																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2272-2274)Ctg>Ttg		lipase, hormone-sensitive							46.0	44.0	44.0					19																	42910406		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910406G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2272C>T	19.37:g.42910406G>A						LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.L758L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			7	2548	-		Prostate(69;0.00682)	758					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2272C>T	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		8	19	0	0	0	1	0	8	19				
SNX19	399979	broad.mit.edu	37	11	130775960	130775960	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:130775960C>T	ENST00000265909.4	-	7	2900	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	SNX19_ENST00000534726.1_Missense_Mutation_p.M17I|SNX19_ENST00000539184.1_Missense_Mutation_p.M220I|SNX19_ENST00000545537.1_Missense_Mutation_p.M17I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.M760I|SNX19_ENST00000530356.1_Missense_Mutation_p.M157I|SNX19_ENST00000528555.1_Missense_Mutation_p.M157I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	777					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTGTTGGCTGCATTTCCAGTA	0.468																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2329-2331)atG>atA		sorting nexin 19							130.0	115.0	120.0					11																	130775960		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130775960C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2331G>A	11.37:g.130775960C>T	ENSP00000265909:p.Met777Ile					SNX19_ENST00000533214.1_Missense_Mutation_p.M760I|SNX19_ENST00000530356.1_Missense_Mutation_p.M157I|SNX19_ENST00000545537.1_Missense_Mutation_p.M17I|SNX19_ENST00000528555.1_Missense_Mutation_p.M157I|SNX19_ENST00000539184.1_Missense_Mutation_p.M220I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.M17I	p.M777I	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	7	2900	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	777					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2331G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955651	0.18507	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.61	-3.53	0.04667	.	0.997747	0.08125	N	0.994166	T	0.23451	0.0567	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.26849	-1.0091	10	0.20519	T	0.43	-0.4798	7.0959	0.25309	0.0:0.329:0.2045:0.4665	.	220;760;777	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	I	777;17;17;157;157;220;760	ENSP00000265909:M777I;ENSP00000433699:M17I;ENSP00000437982:M17I;ENSP00000435122:M157I;ENSP00000432307:M157I;ENSP00000443480:M220I;ENSP00000435390:M760I	ENSP00000265909:M777I	M	-	3	0	SNX19	130281170	0.000000	0.05858	0.431000	0.26735	0.798000	0.45092	-0.414000	0.07114	-0.288000	0.09051	0.655000	0.94253	ATG		0.468	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		22	34	0	0	0	1	0	22	34				
DNAH7	56171	broad.mit.edu	37	2	196636445	196636445	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:196636445C>A	ENST00000312428.6	-	61	11472	c.11372G>T	c.(11371-11373)cGg>cTg	p.R3791L	DNAH7_ENST00000409063.1_Missense_Mutation_p.R274L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3791					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTATTGAACCGTCCCATCTC	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(11371-11373)cGg>cTg		dynein, axonemal, heavy chain 7							259.0	236.0	244.0					2																	196636445		1943	4150	6093	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636445C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11372G>T	2.37:g.196636445C>A	ENSP00000311273:p.Arg3791Leu					DNAH7_ENST00000409063.1_Missense_Mutation_p.R274L	p.R3791L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			61	11472	-			3791					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.11372G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405092	0.83230	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09723	2.95;2.95	5.08	5.08	0.68730	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59941	-0.7359	10	0.87932	D	0	.	18.2425	0.89971	0.0:1.0:0.0:0.0	.	3791	Q8WXX0	DYH7_HUMAN	L	3791;274	ENSP00000311273:R3791L;ENSP00000386912:R274L	ENSP00000311273:R3791L	R	-	2	0	DNAH7	196344690	1.000000	0.71417	0.970000	0.41538	0.660000	0.38997	6.913000	0.75759	2.630000	0.89119	0.655000	0.94253	CGG		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		38	114	1	0	1.07121e-22	1	1.19187e-22	38	114				
SNHG24	101929369	broad.mit.edu	37	14	101450261	101450261	+	lincRNA	SNP	C	C	T	rs375612518		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:101450261C>T	ENST00000554693.2	+	0	799				SNORD114-24_ENST00000365029.1_RNA|SNORD114-25_ENST00000363742.1_RNA|SNORD114-20_ENST00000365178.1_RNA|SNORD114-22_ENST00000365423.1_RNA|SNORD114-21_ENST00000606412.1_RNA|SNORD114-23_ENST00000363536.1_RNA																							ACAATGAATACGTGTCTGGAA	0.363																																						ENST00000554693.2																			0															C		0,1752		0,0,876	246.0	219.0	227.0			-5.8	0.0	14		227	1,3981		0,1,1990	no	intergenic				0,1,2866	TT,TC,CC		0.0251,0.0,0.0174			101450261	1,5733	876	1991	2867			0							g.chr14:101450261C>T																													14.37:g.101450261C>T						SNORD114-23_ENST00000363536.1_RNA								0	799	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.363	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			39	56	0	0	0	1	0	39	56				
DPF1	8193	broad.mit.edu	37	19	38713072	38713072	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38713072C>T	ENST00000420980.2	-	3	330	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	DPF1_ENST00000416611.1_Missense_Mutation_p.A76T|DPF1_ENST00000412732.1_Missense_Mutation_p.A20T|DPF1_ENST00000456296.1_Missense_Mutation_p.A76T|DPF1_ENST00000355526.4_Missense_Mutation_p.A102T|DPF1_ENST00000414789.1_Missense_Mutation_p.A20T	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	102					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGCGGGCGGGGTACGTG	0.697																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(226-228)Gcc>Acc		D4, zinc and double PHD fingers family 1							110.0	108.0	109.0					19																	38713072		2203	4300	6503	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713072C>T	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.304G>A	19.37:g.38713072C>T	ENSP00000397354:p.Ala102Thr					DPF1_ENST00000412732.1_Missense_Mutation_p.A20T|DPF1_ENST00000420980.2_Missense_Mutation_p.A102T|DPF1_ENST00000414789.1_Missense_Mutation_p.A20T|DPF1_ENST00000456296.1_Missense_Mutation_p.A76T|DPF1_ENST00000355526.4_Missense_Mutation_p.A102T	p.A76T			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	349	-	all_cancers(60;1.24e-06)		102					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.226G>A	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	26.9|26.9	4.781021|4.781021	0.90282|0.90282	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365|ENST00000355526	D;D;D;D;D;T|.	0.91464|.	-2.35;-2.85;-2.3;-2.85;-2.76;2.06|.	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.177921|.	0.33938|.	N|.	0.004415|.	T|T	0.73791|0.73791	0.3632|0.3632	M|M	0.77103|0.77103	2.36|2.36	0.50039|0.50039	D|D	0.999846|0.999846	D;D;D;D;D;D|.	0.89917|.	0.999;0.971;0.999;1.0;1.0;0.999|.	D;P;D;D;D;D|.	0.80764|.	0.994;0.649;0.969;0.988;0.98;0.941|.	T|T	0.76291|0.76291	-0.3013|-0.3013	10|5	0.87932|.	D|.	0|.	-8.3071|-8.3071	14.021|14.021	0.64555|0.64555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	76;76;75;102;102;102|.	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;.;DPF1_HUMAN|.	T|H	102;102;20;76;20;76;20;76;20|94	ENSP00000397354:A102T;ENSP00000412098:A20T;ENSP00000390223:A76T;ENSP00000391884:A20T;ENSP00000411569:A76T;ENSP00000416347:A20T|.	ENSP00000412098:A20T|.	A|R	-|-	1|2	0|0	DPF1|DPF1	43404912|43404912	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	4.081000|4.081000	0.57627|0.57627	1.902000|1.902000	0.55061|0.55061	0.394000|0.394000	0.25966|0.25966	GCC|CGC		0.697	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			38	63	0	0	0	1	0	38	63				
UFSP2	55325	broad.mit.edu	37	4	186329445	186329445	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186329445T>C	ENST00000264689.6	-	8	1092	c.976A>G	c.(976-978)Aca>Gca	p.T326A		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	326						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TCTCTGTGTGTTGGAATGGAC	0.398																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(976-978)Aca>Gca		UFM1-specific peptidase 2							148.0	134.0	139.0					4																	186329445		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329445T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.976A>G	4.37:g.186329445T>C	ENSP00000264689:p.Thr326Ala						p.T326A	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	1092	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	326					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.976A>G	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.75|19.75	3.885708|3.885708	0.72410|0.72410	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	.|T	.|0.33216	.|1.42	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.099013	.|0.64402	.|D	.|0.000002	T|T	0.54029|0.54029	0.1833|0.1833	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.50943	.|0.94;0.852	.|P;B	.|0.49276	.|0.605;0.355	T|T	0.66520|0.66520	-0.5903|-0.5903	5|10	.|0.72032	.|D	.|0.01	7.2661|7.2661	16.3514|16.3514	0.83213|0.83213	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|326;226	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	S|A	224|326	.|ENSP00000264689:T326A	.|ENSP00000264689:T326A	N|T	-|-	2|1	0|0	UFSP2|UFSP2	186566439|186566439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.716000|4.716000	0.61916|0.61916	2.252000|2.252000	0.74401|0.74401	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.398	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		14	68	0	0	0	1	0	14	68				
MFSD6	54842	broad.mit.edu	37	2	191302098	191302098	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191302098G>A	ENST00000392328.1	+	3	1667	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D	MFSD6_ENST00000281416.7_Missense_Mutation_p.G448D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	448					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GTGCAGTATGGCTCAGTGCTG	0.498																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1342-1344)gGc>gAc		major facilitator superfamily domain containing 6							308.0	246.0	267.0					2																	191302098		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191302098G>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1343G>A	2.37:g.191302098G>A	ENSP00000376141:p.Gly448Asp					MFSD6_ENST00000281416.7_Missense_Mutation_p.G448D	p.G448D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1667	+			448					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1343G>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433381	0.83776	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80824	-1.42;-1.42	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);	0.049943	0.85682	D	0.000000	T	0.79505	0.4457	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	P	0.52514	0.701	T	0.77872	-0.2426	10	0.34782	T	0.22	-21.4889	18.4698	0.90769	0.0:0.0:1.0:0.0	.	448	Q6ZSS7	MFSD6_HUMAN	D	448	ENSP00000376141:G448D;ENSP00000281416:G448D	ENSP00000281416:G448D	G	+	2	0	MFSD6	191010343	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	7.701000	0.84566	2.835000	0.97688	0.650000	0.86243	GGC		0.498	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			58	97	0	0	0	1	0	58	97				
PPP4R1	9989	broad.mit.edu	37	18	9583125	9583125	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:9583125G>T	ENST00000400556.3	-	9	981	c.908C>A	c.(907-909)cCt>cAt	p.P303H	PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P286H	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	303					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						CCAACGTGAAGGATCACTGAT	0.343																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(907-909)cCt>cAt		protein phosphatase 4, regulatory subunit 1							57.0	53.0	55.0					18																	9583125		1816	4075	5891	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9583125G>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.908C>A	18.37:g.9583125G>T	ENSP00000383402:p.Pro303His					PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P286H	p.P303H	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			9	981	-			303					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.908C>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202909	0.79127	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19532	2.14;2.14	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.289710	0.34932	N	0.003562	T	0.26268	0.0641	L	0.59436	1.845	0.80722	D	1	B;B	0.31077	0.204;0.307	B;B	0.31547	0.062;0.132	T	0.01757	-1.1280	9	.	.	.	-24.2602	19.5069	0.95121	0.0:0.0:1.0:0.0	.	303;286	Q8TF05;Q8TF05-2	PP4R1_HUMAN;.	H	303;286;214	ENSP00000383402:P303H;ENSP00000383401:P286H	.	P	-	2	0	PPP4R1	9573125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.586000	0.67503	2.941000	0.99782	0.655000	0.94253	CCT		0.343	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		12	28	1	0	3.27435e-08	1	3.44876e-08	12	28				
PRUNE2	158471	broad.mit.edu	37	9	79323043	79323043	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79323043T>C	ENST00000376718.3	-	8	4270	c.4147A>G	c.(4147-4149)Atc>Gtc	p.I1383V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I1024V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1383					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGAGCTGATTTTGCCTGAT	0.463																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3070-3072)Atc>Gtc		prune homolog 2 (Drosophila)							88.0	78.0	81.0					9																	79323043		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323043T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4147A>G	9.37:g.79323043T>C	ENSP00000365908:p.Ile1383Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1383V	p.I1024V			Q8WUY3	PRUN2_HUMAN			8	4270	-			1383					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3070A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.878|2.878	-0.232479|-0.232479	0.05983|0.05983	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.48522|.	0.81;0.81|.	5.45|5.45	-1.34|-1.34	0.09143|0.09143	.|.	0.410776|.	0.20749|.	N|.	0.086395|.	T|T	0.46870|0.46870	0.1415|0.1415	L|L	0.51422|0.51422	1.61|1.61	0.33135|0.33135	D|D	0.54362|0.54362	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|T	0.53373|0.53373	-0.8448|-0.8448	10|5	0.07813|.	T|.	0.8|.	-1.8002|-1.8002	5.8181|5.8181	0.18512|0.18512	0.0:0.2718:0.129:0.5992|0.0:0.2718:0.129:0.5992	.|.	1383|.	Q8WUY3|.	PRUN2_HUMAN|.	V|S	1383;1024;1382|704	ENSP00000365908:I1383V;ENSP00000397425:I1024V|.	ENSP00000365908:I1383V|.	I|N	-|-	1|2	0|0	PRUNE2|PRUNE2	78512863|78512863	0.076000|0.076000	0.21285|0.21285	0.200000|0.200000	0.23457|0.23457	0.613000|0.613000	0.37349|0.37349	0.200000|0.200000	0.17257|0.17257	-0.388000|-0.388000	0.07797|0.07797	-0.256000|-0.256000	0.11100|0.11100	ATC|AAT		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		18	38	0	0	0	1	0	18	38				
NXN	64359	broad.mit.edu	37	17	704251	704251	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:704251C>T	ENST00000336868.3	-	8	1337	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	NXN_ENST00000538650.1_Missense_Mutation_p.A107T|NXN_ENST00000575801.1_Missense_Mutation_p.A308T|NXN_ENST00000537628.2_Missense_Mutation_p.A167T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	416					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCACGATGGCGGGGGTGATC	0.572																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1246-1248)Gcc>Acc		nucleoredoxin							65.0	61.0	62.0					17																	704251		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704251C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1246G>A	17.37:g.704251C>T	ENSP00000337443:p.Ala416Thr					NXN_ENST00000538650.1_Missense_Mutation_p.A107T|NXN_ENST00000537628.2_Missense_Mutation_p.A167T|NXN_ENST00000575801.1_Missense_Mutation_p.A308T	p.A416T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1337	-			416					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.1246G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272363	0.80580	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.14144	2.53;2.53	5.99	5.99	0.97316	Thioredoxin-like fold (1);	0.108371	0.64402	D	0.000008	T	0.14917	0.0360	L	0.36672	1.1	0.58432	D	0.999993	P;B;D	0.53151	0.512;0.048;0.958	B;B;B	0.41571	0.098;0.005;0.36	T	0.00649	-1.1627	10	0.45353	T	0.12	-21.1043	19.0415	0.93002	0.0:1.0:0.0:0.0	.	308;107;416	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	T	416;107;308	ENSP00000337443:A416T;ENSP00000445087:A107T	ENSP00000337443:A416T	A	-	1	0	NXN	651001	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.794000	0.85869	2.840000	0.97914	0.655000	0.94253	GCC		0.572	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			12	21	0	0	0	1	0	12	21				
PPIL4	85313	broad.mit.edu	37	6	149826637	149826637	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149826637G>A	ENST00000253329.2	-	13	1463	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	PPIL4_ENST00000340881.2_Missense_Mutation_p.A110V	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	477					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTGGACTTCTGCTTCGGTCTC	0.353																																						ENST00000340881.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(328-330)gCa>gTa		peptidylprolyl isomerase (cyclophilin)-like 4							187.0	175.0	179.0					6																	149826637		2203	4300	6503	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826637G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1431C>T	6.37:g.149826637G>A						PPIL4_ENST00000253329.2_Silent_p.S477S	p.A110V			Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	3	862	-		Ovarian(120;0.0164)	476			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.329C>T	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969874	0.34754	.	.	ENSG00000131013	ENST00000340881	.	.	.	6.05	3.34	0.38264	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.22081	N	0.999377	.	.	.	.	.	.	T	0.16158	-1.0412	5	0.87932	D	0	.	9.4519	0.38731	0.2767:0.0:0.7233:0.0	.	.	.	.	V	110	.	ENSP00000344128:A110V	A	-	2	0	PPIL4	149868330	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.302000	0.33459	0.911000	0.36747	-0.142000	0.14014	GCA		0.353	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			23	41	0	0	0	1	0	23	41				
POU2AF1	5450	broad.mit.edu	37	11	111225283	111225283	+	Silent	SNP	C	C	T	rs188428317		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111225283C>T	ENST00000393067.3	-	5	988	c.474G>A	c.(472-474)acG>acA	p.T158T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	158					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CCACTGCGGGCGTGGCGGAGC	0.642			T	BCL6	NHL								C|||	1	0.000199681	0.0	0.0014	5008	,	,		17201	0.0		0.0	False		,,,				2504	0.0					ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(472-474)acG>acA		POU class 2 associating factor 1							17.0	24.0	22.0					11																	111225283		2197	4291	6488	SO:0001819	synonymous_variant	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225283C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.474G>A	11.37:g.111225283C>T							p.T158T	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	5	988	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	158					B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37	c.474G>A	CCDS31675.1																																																																																				0.642	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	0	0	0	0	1	0	3	0				
HSPG2	3339	broad.mit.edu	37	1	22179484	22179484	+	Silent	SNP	G	G	A	rs371437903		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22179484G>A	ENST00000374695.3	-	51	6598	c.6519C>T	c.(6517-6519)tgC>tgT	p.C2173C	HSPG2_ENST00000430507.1_Silent_p.C119C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2173	Ig-like C2-type 7.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGGCACCACGCAGTTCAGAT	0.716																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6517-6519)tgC>tgT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		0,4406		0,0,2203	48.0	50.0	49.0		6519	-6.1	0.8	1		49	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		2173/4392	22179484	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22179484G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6519C>T	1.37:g.22179484G>A						HSPG2_ENST00000430507.1_Silent_p.C119C	p.C2173C	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	51	6598	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2173			Ig-like C2-type 7.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6519C>T	CCDS30625.1																																																																																				0.716	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		21	24	0	0	0	1	0	21	24				
LOXL2	4017	broad.mit.edu	37	8	23225613	23225613	+	Silent	SNP	G	G	A	rs137863437		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:23225613G>A	ENST00000389131.3	-	2	621	c.252C>T	c.(250-252)tgC>tgT	p.C84C	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	84	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTCGTCATCGCACACGGTGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18572	0.0		0.0	False		,,,				2504	0.001					ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(250-252)tgC>tgT		lysyl oxidase-like 2		G		0,4406		0,0,2203	97.0	74.0	82.0		252	-1.7	0.7	8	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LOXL2	NM_002318.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		84/775	23225613	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23225613G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.252C>T	8.37:g.23225613G>A							p.C84C	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	2	621	-		Prostate(55;0.0453)|Breast(100;0.143)	84			SRCR 1.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.252C>T	CCDS34864.1																																																																																				0.647	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			18	34	0	0	0	1	0	18	34				
TBC1D31	93594	broad.mit.edu	37	8	124089435	124089435	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124089435C>T	ENST00000287380.1	+	2	252	c.162C>T	c.(160-162)ggC>ggT	p.G54G	TBC1D31_ENST00000327098.5_Silent_p.G54G|TBC1D31_ENST00000309336.3_Silent_p.G54G|TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000522420.1_5'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	54						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										ATGGCACAGGCGACTGCTTAA	0.358																																						ENST00000287380.1																			0											c.(160-162)ggC>ggT		TBC1 domain family, member 31							137.0	131.0	133.0					8																	124089435		2203	4300	6503	SO:0001819	synonymous_variant	93594							g.chr8:124089435C>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.162C>T	8.37:g.124089435C>T						TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000327098.5_Silent_p.G54G|TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000522420.1_5'UTR|TBC1D31_ENST00000309336.3_Silent_p.G54G	p.G54G	NM_145647.3	NP_663622.2					2	252	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.162C>T	CCDS6338.1																																																																																				0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		36	60	0	0	0	1	0	36	60				
MSL1	339287	broad.mit.edu	37	17	38289322	38289322	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38289322C>T	ENST00000398532.4	+	6	1831	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	MSL1_ENST00000579565.1_Missense_Mutation_p.R243W|MSL1_ENST00000578648.1_Missense_Mutation_p.R490W	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	506	Interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GTTTTCGAAGCGGCATGCAAA	0.428																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1516-1518)Cgg>Tgg		male-specific lethal 1 homolog (Drosophila)							75.0	76.0	75.0					17																	38289322		1954	4161	6115	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289322C>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1516C>T	17.37:g.38289322C>T	ENSP00000381543:p.Arg506Trp					MSL1_ENST00000579565.1_Missense_Mutation_p.R243W|MSL1_ENST00000578648.1_Missense_Mutation_p.R490W	p.R506W			Q68DK7	MSL1_HUMAN			6	1831	+			506					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1516C>T		.	.	.	.	.	.	.	.	.	.	C	12.99	2.102815	0.37145	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.65178	-0.14	5.68	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.65677	2.01	0.80722	D	1	.	.	.	.	.	.	T	0.72915	-0.4147	8	0.87932	D	0	-4.1158	12.7388	0.57239	0.445:0.5549:0.0:0.0	.	.	.	.	W	243;506	ENSP00000381543:R506W	ENSP00000341409:R243W	R	+	1	2	MSL1	35542848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.301000	0.33447	0.694000	0.31654	0.655000	0.94253	CGG		0.428	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		9	5	0	0	0	1	0	9	5				
MT1A	4489	broad.mit.edu	37	16	56672671	56672671	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:56672671C>T	ENST00000290705.8	+	1	94	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	7	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTGCTCCTGCGCCACTGGTA	0.542																																						ENST00000290705.8																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(19-21)tgC>tgT		metallothionein 1A							128.0	112.0	117.0					16																	56672671		2198	4300	6498	SO:0001819	synonymous_variant	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56672671C>T	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.21C>T	16.37:g.56672671C>T							p.C7C	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN			1	94	+			7			Beta.		Q86YX5	Silent	SNP	ENST00000290705.8	37	c.21C>T	CCDS32454.1																																																																																				0.542	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		40	55	0	0	0	1	0	40	55				
RASGRF2	5924	broad.mit.edu	37	5	80497209	80497209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:80497209C>T	ENST00000265080.4	+	19	2921	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R952*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGTTTTGCGAGACCCAGA	0.403																																						ENST00000265080.4																			1	Substitution - Nonsense(1)	p.R952*(1)	large_intestine(1)	biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2854-2856)Cga>Tga		Ras protein-specific guanine nucleotide-releasing factor 2							73.0	83.0	80.0					5																	80497209		2203	4300	6503	SO:0001587	stop_gained	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80497209C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2854C>T	5.37:g.80497209C>T	ENSP00000265080:p.Arg952*						p.R952*	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	19	2921	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	952					B9EG89|Q9UK56	Nonsense_Mutation	SNP	ENST00000265080.4	37	c.2854C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420475	0.98803	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.89	3.91	0.45181	.	0.275269	0.34932	N	0.003566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9024	0.70689	0.312:0.688:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265080:R952X	R	+	1	2	RASGRF2	80532965	0.502000	0.26107	0.996000	0.52242	0.985000	0.73830	0.688000	0.25422	1.463000	0.47967	0.561000	0.74099	CGA		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		4	96	0	0	0	1	0	4	96				
FAM124A	220108	broad.mit.edu	37	13	51855375	51855375	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:51855375G>A	ENST00000322475.8	+	4	1759	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	FAM124A_ENST00000280057.6_Missense_Mutation_p.E578K	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	542										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TAACGACATGGAGGAATTCTA	0.582																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(1624-1626)Gag>Aag		family with sequence similarity 124A							40.0	41.0	41.0					13																	51855375		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51855375G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1624G>A	13.37:g.51855375G>A	ENSP00000324625:p.Glu542Lys					FAM124A_ENST00000280057.6_Missense_Mutation_p.E578K	p.E542K	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1759	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	542					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.1624G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981652	0.93044	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.55760	0.5;0.51	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000015	T	0.70378	0.3217	L	0.56769	1.78	0.39702	D	0.971192	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73646	-0.3917	10	0.72032	D	0.01	-13.0513	17.8334	0.88689	0.0:0.0:1.0:0.0	.	542;578	Q86V42;Q86V42-2	F124A_HUMAN;.	K	542;578	ENSP00000324625:E542K;ENSP00000280057:E578K	ENSP00000280057:E578K	E	+	1	0	FAM124A	50753376	1.000000	0.71417	0.983000	0.44433	0.905000	0.53344	6.148000	0.71788	2.543000	0.85770	0.650000	0.86243	GAG		0.582	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		10	15	0	0	0	1	0	10	15				
ASXL1	171023	broad.mit.edu	37	20	31022609	31022609	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31022609G>A	ENST00000375687.4	+	13	2518	c.2094G>A	c.(2092-2094)ccG>ccA	p.P698P	ASXL1_ENST00000306058.5_Silent_p.P693P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	698					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AACTACTGCCGCCTTATCCTC	0.587			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2092-2094)ccG>ccA		additional sex combs like 1 (Drosophila)							54.0	47.0	50.0					20																	31022609		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022609G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2094G>A	20.37:g.31022609G>A						ASXL1_ENST00000306058.5_Silent_p.P693P	p.P698P	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2518	+			698					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2094G>A	CCDS13201.1																																																																																				0.587	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		9	8	0	0	0	1	0	9	8				
PIK3CD	5293	broad.mit.edu	37	1	9781512	9781512	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9781512C>T	ENST00000377346.4	+	15	2017	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	PIK3CD_ENST00000536656.1_Silent_p.L632L|PIK3CD_ENST00000361110.2_Silent_p.L632L|PIK3CD_ENST00000543390.1_Silent_p.L275L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	608	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGACGATGAGCTGTTCCAGTA	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1894-1896)Ctg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							52.0	50.0	50.0					1																	9781512		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781512C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1822C>T	1.37:g.9781512C>T						PIK3CD_ENST00000543390.1_Silent_p.L275L|PIK3CD_ENST00000361110.2_Silent_p.L632L|PIK3CD_ENST00000377346.4_Silent_p.L608L	p.L632L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2102	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	608					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1894C>T	CCDS104.1																																																																																				0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	15	0	0	0	1	0	10	15				
MDN1	23195	broad.mit.edu	37	6	90437643	90437643	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90437643G>T	ENST00000369393.3	-	37	5496	c.5381C>A	c.(5380-5382)cCt>cAt	p.P1794H	MDN1_ENST00000428876.1_Missense_Mutation_p.P1794H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1794					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTTCAACAGGTAGATCTGC	0.488																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5380-5382)cCt>cAt		MDN1, midasin homolog (yeast)							143.0	120.0	127.0					6																	90437643		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90437643G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5381C>A	6.37:g.90437643G>T	ENSP00000358400:p.Pro1794His					MDN1_ENST00000428876.1_Missense_Mutation_p.P1794H	p.P1794H			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	37	5496	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1794					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5381C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441031	0.63067	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.55413	0.52;0.52	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78743	-0.2085	10	0.87932	D	0	.	18.9921	0.92796	0.0:0.0:1.0:0.0	.	1794	Q9NU22	MDN1_HUMAN	H	1794	ENSP00000358400:P1794H;ENSP00000413970:P1794H	ENSP00000358400:P1794H	P	-	2	0	MDN1	90494364	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.459000	0.97638	2.585000	0.87301	0.563000	0.77884	CCT		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			4	54	1	0	0.014758	1	0.0148771	4	54				
FMN2	56776	broad.mit.edu	37	1	240371408	240371408	+	Missense_Mutation	SNP	C	C	T	rs370099468	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:240371408C>T	ENST00000319653.9	+	5	3526	c.3296C>T	c.(3295-3297)cCg>cTg	p.P1099L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTA	0.731													-|||	6	0.00119808	0.0045	0.0	5008	,	,		3202	0.0		0.0	False		,,,				2504	0.0					ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3295-3297)cCg>cTg		formin 2		C	LEU/PRO	6,3986		0,6,1990	6.0	8.0	7.0		3296	3.0	0.0	1		7	1,8095		0,1,4047	no	missense	FMN2	NM_020066.4	98	0,7,6037	TT,TC,CC		0.0124,0.1503,0.0579	benign	1099/1723	240371408	7,12081	1996	4048	6044	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371408C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3296C>T	1.37:g.240371408C>T	ENSP00000318884:p.Pro1099Leu						p.P1099L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3526	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1099			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3296C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038711	0.19669	0.001503	1.24E-4	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.0	3.0	0.34707	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.52532	U	0.000066	T	0.63295	0.2499	M	0.86740	2.835	0.49798	D	0.999825	B	0.29766	0.256	B	0.19148	0.024	T	0.67987	-0.5528	9	.	.	.	.	14.0458	0.64704	0.0:1.0:0.0:0.0	.	1099	Q9NZ56	FMN2_HUMAN	L	1099	ENSP00000318884:P1099L	.	P	+	2	0	FMN2	238438031	0.195000	0.23338	0.004000	0.12327	0.004000	0.04260	3.341000	0.52151	1.675000	0.50919	0.484000	0.47621	CCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	22	0	0	0	1	0	8	22				
ZMIZ1	57178	broad.mit.edu	37	10	81056320	81056320	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81056320C>A	ENST00000334512.5	+	13	1895	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	441	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCCACTCACCTCCCCCAACT	0.632																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1321-1323)acC>acA		zinc finger, MIZ-type containing 1							61.0	70.0	67.0					10																	81056320		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056320C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1323C>A	10.37:g.81056320C>A						ZMIZ1_ENST00000478357.1_3'UTR	p.T441T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1895	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		441			Pro-rich.		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1323C>A	CCDS7357.1																																																																																				0.632	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	41	1	0	2.32078e-09	1	2.46314e-09	15	41				
COX4I2	84701	broad.mit.edu	37	20	30227798	30227798	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30227798C>T	ENST00000376075.3	+	3	220	c.145C>T	c.(145-147)Cca>Tca	p.P49S	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	49					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CTACCCCATGCCAGAAGAGCC	0.617																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(145-147)Cca>Tca		cytochrome c oxidase subunit IV isoform 2 (lung)							74.0	64.0	67.0					20																	30227798		2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30227798C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.145C>T	20.37:g.30227798C>T	ENSP00000365243:p.Pro49Ser					COX4I2_ENST00000490030.1_3'UTR	p.P49S	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	220	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		49					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.145C>T	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277861	0.80692	.	.	ENSG00000131055	ENST00000376075	T	0.79749	-1.3	4.74	4.74	0.60224	.	0.066064	0.64402	D	0.000010	D	0.88962	0.6580	M	0.84082	2.675	0.54753	D	0.999986	D	0.76494	0.999	D	0.67382	0.951	D	0.90117	0.4196	10	0.66056	D	0.02	-6.3176	13.1003	0.59216	0.0:1.0:0.0:0.0	.	49	Q96KJ9	COX42_HUMAN	S	49	ENSP00000365243:P49S	ENSP00000365243:P49S	P	+	1	0	COX4I2	29691459	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.078000	0.64425	2.452000	0.82932	0.555000	0.69702	CCA		0.617	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		9	26	0	0	0	1	0	9	26				
GADD45GIP1	90480	broad.mit.edu	37	19	13065212	13065212	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13065212G>A	ENST00000316939.1	-	2	502	c.479C>T	c.(478-480)gCc>gTc	p.A160V		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	160					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GAGCTCCTGGGCCTCAGCCTG	0.622																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(478-480)gCc>gTc		growth arrest and DNA-damage-inducible, gamma interacting protein 1							65.0	67.0	66.0					19																	13065212		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065212G>A	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.479C>T	19.37:g.13065212G>A	ENSP00000323065:p.Ala160Val						p.A160V	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	502	-			160					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.479C>T	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708575	0.68615	.	.	ENSG00000179271	ENST00000316939	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.29908	0.895	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.65315	-0.6198	9	0.37606	T	0.19	-33.9051	17.1596	0.86800	0.0:0.0:1.0:0.0	.	160	Q8TAE8	G45IP_HUMAN	V	160	.	ENSP00000323065:A160V	A	-	2	0	GADD45GIP1	12926212	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.648000	0.74359	2.355000	0.79922	0.558000	0.71614	GCC		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		28	42	0	0	0	1	0	28	42				
APLF	200558	broad.mit.edu	37	2	68740263	68740263	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68740263C>T	ENST00000303795.4	+	4	564	c.393C>T	c.(391-393)tcC>tcT	p.S131S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	131					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CACCAAAATCCCCCGTGATTA	0.363																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(391-393)tcC>tcT		aprataxin and PNKP like factor							66.0	70.0	69.0					2																	68740263		2203	4299	6502	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68740263C>T	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.393C>T	2.37:g.68740263C>T							p.S131S	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			4	564	+			131					A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.393C>T	CCDS1888.1																																																																																				0.363	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		27	61	0	0	0	1	0	27	61				
GSG1	83445	broad.mit.edu	37	12	13240093	13240093	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:13240093C>T	ENST00000432710.2	-	5	802	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	GSG1_ENST00000396302.3_Missense_Mutation_p.G252D|GSG1_ENST00000337630.6_Missense_Mutation_p.A211T|GSG1_ENST00000324458.8_Missense_Mutation_p.A247T|GSG1_ENST00000396310.2_Missense_Mutation_p.A180T|GSG1_ENST00000351606.6_Missense_Mutation_p.G288D|GSG1_ENST00000537302.1_Missense_Mutation_p.A183T|GSG1_ENST00000457134.2_Missense_Mutation_p.A160T	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	234						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TACTAGAAGGCCCAGCCATAA	0.512																																						ENST00000337630.6																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(631-633)Gcc>Acc		germ cell associated 1							111.0	92.0	99.0					12																	13240093		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13240093C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.670G>A	12.37:g.13240093C>T	ENSP00000405032:p.Ala224Thr					GSG1_ENST00000537302.1_Missense_Mutation_p.A183T|GSG1_ENST00000432710.2_Missense_Mutation_p.A224T|GSG1_ENST00000351606.6_Missense_Mutation_p.G288D|GSG1_ENST00000396310.2_Missense_Mutation_p.A180T|GSG1_ENST00000457134.2_Missense_Mutation_p.A160T|GSG1_ENST00000396302.3_Missense_Mutation_p.G252D|GSG1_ENST00000324458.8_Missense_Mutation_p.A247T	p.A211T	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	5	698	-		Prostate(47;0.183)	234					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.631G>A	CCDS55808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.317771|3.317771	0.60524|0.60524	.|.	.|.	ENSG00000111305|ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302|ENST00000396302;ENST00000351606;ENST00000405543	T;T;T;T;T;T|T;T	0.36699|0.41065	1.34;1.3;1.38;1.24;1.33;1.38|1.04;1.01	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	2.972960|.	0.01558|.	N|.	0.020015|.	T|T	0.67608|0.67608	0.2911|0.2911	M|M	0.80028|0.80028	2.48|2.48	0.58432|0.58432	D|D	0.999999|0.999999	B;B;D;D;B|D;D;D	0.76494|0.89917	0.242;0.027;0.999;0.999;0.056|1.0;1.0;1.0	B;B;D;D;B|D;D;D	0.70935|0.81914	0.094;0.046;0.959;0.971;0.057|0.995;0.993;0.984	T|T	0.69359|0.69359	-0.5166|-0.5166	10|9	0.66056|0.45353	D|T	0.02|0.12	.|.	18.8183|18.8183	0.92086|0.92086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224;234;160;183;211|288;288;252	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1|Q2KHT4-7;G3XAB9;F1T0A0	.;GSG1_HUMAN;.;.;.|.;.;.	T|D	211;247;180;160;224;183|252;288;249	ENSP00000336816:A211T;ENSP00000320838:A247T;ENSP00000379604:A180T;ENSP00000398384:A160T;ENSP00000405032:A224T;ENSP00000441718:A183T|ENSP00000379596:G252D;ENSP00000336857:G288D	ENSP00000320838:A247T|ENSP00000336857:G288D	A|G	-|-	1|2	0|0	GSG1|GSG1	13131360|13131360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.057000|5.057000	0.64294|0.64294	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GCC|GGC		0.512	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		40	53	0	0	0	1	0	40	53				
AREL1	9870	broad.mit.edu	37	14	75151249	75151249	+	Missense_Mutation	SNP	G	G	A	rs560391293		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75151249G>A	ENST00000356357.4	-	4	666	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	51					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R51W(1)									TAATTTCCCCGCACGTAGTCA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17848	0.0		0.0	False		,,,				2504	0.0					ENST00000356357.4																			1	Substitution - Missense(1)	p.R51W(1)	endometrium(1)								c.(151-153)Cgg>Tgg		apoptosis resistant E3 ubiquitin protein ligase 1							63.0	61.0	62.0					14																	75151249		1871	4099	5970	SO:0001583	missense	9870							g.chr14:75151249G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.151C>T	14.37:g.75151249G>A	ENSP00000348714:p.Arg51Trp					AREL1_ENST00000557401.1_5'UTR	p.R51W	NM_001039479.1	NP_001034568.1					4	666	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.151C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742528	0.89573	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.52526	0.66;0.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.80764	0.994;0.893	T	0.63269	-0.6675	10	0.72032	D	0.01	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	51;51	O15033-2;O15033	.;K0317_HUMAN	W	51	ENSP00000348714:R51W;ENSP00000450458:R51W	ENSP00000348714:R51W	R	-	1	2	KIAA0317	74221002	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.557000	0.82243	2.730000	0.93505	0.655000	0.94253	CGG		0.557	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		10	22	0	0	0	1	0	10	22				
DENND4C	55667	broad.mit.edu	37	9	19358036	19358036	+	Nonsense_Mutation	SNP	C	C	T	rs143290383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19358036C>T	ENST00000380432.2	+	23	4216	c.4183C>T	c.(4183-4185)Cga>Tga	p.R1395*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.R1631*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.R1680*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1395					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTATCAAAGCGAAATGTGTC	0.383																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2602-2604)Cga>Tga		DENN/MADD domain containing 4C		C	stop/ARG	0,4406		0,0,2203	78.0	72.0	74.0		4183	3.7	1.0	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	DENND4C	NM_017925.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1395/1674	19358036	1,13005	2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19358036C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4183C>T	9.37:g.19358036C>T	ENSP00000369797:p.Arg1395*					DENND4C_ENST00000380432.2_Nonsense_Mutation_p.R1395*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.R1680*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.R725*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.R1631*	p.R868*			Q5VZ89	DEN4C_HUMAN			24	4354	+			1395					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.2602C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.780288	0.96929	0.0	1.16E-4	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	.	.	.	5.67	3.74	0.42951	.	1.028080	0.07660	N	0.933402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-0.8068	14.5453	0.68027	0.4255:0.5745:0.0:0.0	.	.	.	.	X	1395;868;577;725;868;577;392	.	ENSP00000305795:R868X	R	+	1	2	DENND4C	19348036	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.566000	0.45948	0.770000	0.33336	0.585000	0.79938	CGA		0.383	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		16	33	0	0	0	1	0	16	33				
SLC22A14	9389	broad.mit.edu	37	3	38357177	38357177	+	Missense_Mutation	SNP	G	G	A	rs114657493		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38357177G>A	ENST00000273173.4	+	8	1598	c.1507G>A	c.(1507-1509)Gct>Act	p.A503T	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A503T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	503					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTCTACACCGCTGAGCTCCT	0.572																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1507-1509)Gct>Act		solute carrier family 22, member 14							186.0	152.0	164.0					3																	38357177		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357177G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1507G>A	3.37:g.38357177G>A	ENSP00000273173:p.Ala503Thr					SLC22A14_ENST00000448498.1_Missense_Mutation_p.A503T	p.A503T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1598	+			503					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1507G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883927	0.51908	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.75050	-0.9;-0.9	4.63	0.442	0.16582	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.286212	0.37906	N	0.001884	T	0.70937	0.3281	L	0.53780	1.695	0.09310	N	1	D	0.54397	0.966	P	0.54026	0.74	T	0.60505	-0.7250	10	0.35671	T	0.21	.	3.4969	0.07658	0.0846:0.141:0.4549:0.3195	.	503	Q9Y267	S22AE_HUMAN	T	503;488;503	ENSP00000396283:A503T;ENSP00000273173:A503T	ENSP00000273173:A503T	A	+	1	0	SLC22A14	38332181	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	-0.041000	0.13558	-0.175000	0.13238	GCT		0.572	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		42	59	0	0	0	1	0	42	59				
OR4K15	81127	broad.mit.edu	37	14	20444037	20444037	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20444037C>A	ENST00000305051.5	+	1	435	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTGATGCCTGCCTGGCCC	0.433																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(358-360)gcC>gcA		olfactory receptor, family 4, subfamily K, member 15							140.0	140.0	140.0					14																	20444037		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444037C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.360C>A	14.37:g.20444037C>A							p.A120A	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	435	+	all_cancers(95;0.00108)		120					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.360C>A	CCDS32026.1																																																																																				0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			23	75	1	0	2.21704e-12	1	2.3975e-12	23	75				
TNN	63923	broad.mit.edu	37	1	175105005	175105005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:175105005C>T	ENST00000239462.4	+	16	3468	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1119	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAACACTGGGCAGCTGGATTT	0.522																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3355-3357)Cag>Tag		tenascin N							143.0	143.0	143.0					1																	175105005		2203	4300	6503	SO:0001587	stop_gained	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105005C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3355C>T	1.37:g.175105005C>T	ENSP00000239462:p.Gln1119*						p.Q1119*	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3468	+		Breast(1374;0.000962)	1119			Fibrinogen C-terminal.		B9EGP3|Q5R360	Nonsense_Mutation	SNP	ENST00000239462.4	37	c.3355C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	42	9.309504	0.99132	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	5.65	5.65	0.86999	.	0.315023	0.36134	N	0.002776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.0688	0.47991	0.1423:0.7201:0.1376:0.0	.	.	.	.	X	1119;942	.	ENSP00000239462:Q1119X	Q	+	1	0	TNN	173371628	0.910000	0.30920	0.998000	0.56505	0.953000	0.61014	1.825000	0.39081	2.646000	0.89796	0.655000	0.94253	CAG		0.522	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		29	33	0	0	0	1	0	29	33				
MYO18B	84700	broad.mit.edu	37	22	26173714	26173714	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:26173714G>A	ENST00000407587.2	+	8	2203	c.2034G>A	c.(2032-2034)gtG>gtA	p.V678V	MYO18B_ENST00000536101.1_Silent_p.V678V|MYO18B_ENST00000335473.7_Silent_p.V678V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	678	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACCTGGTGGGGATGGCAG	0.627																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2032-2034)gtG>gtA		myosin XVIIIB							91.0	101.0	97.0					22																	26173714		2096	4215	6311	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26173714G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2034G>A	22.37:g.26173714G>A						MYO18B_ENST00000407587.2_Silent_p.V678V|MYO18B_ENST00000536101.1_Silent_p.V678V	p.V678V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			8	2284	+			678			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2034G>A																																																																																					0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	45	0	0	0	1	0	13	45				
HLA-DMB	3109	broad.mit.edu	37	6	32906527	32906527	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32906527G>A	ENST00000418107.2	-	2	533	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R123C|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.R91C|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	91	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGCCCATTGCGCAAGCGCTGC	0.557																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(271-273)Cgc>Tgc		major histocompatibility complex, class II, DM beta							127.0	128.0	127.0					6																	32906527		1510	2709	4219	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906527G>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.271C>T	6.37:g.32906527G>A	ENSP00000398890:p.Arg91Cys					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R91C|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R123C	p.R91C			P28068	DMB_HUMAN			2	465	-			91			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.271C>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547691	0.45383	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00421	7.46;7.46;7.46	5.07	-2.05	0.07321	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	4.741980	0.00357	N	0.000031	T	0.00178	0.0005	N	0.22421	0.69	0.49130	P	2.4599999999996847E-4	D;D;D	0.69078	0.99;0.997;0.997	P;P;P	0.57720	0.826;0.782;0.663	T	0.49437	-0.8940	8	.	.	.	.	6.1079	0.20084	0.1282:0.0:0.1913:0.6805	.	91;91;100	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	C	91;91;91;123	ENSP00000398890:R91C;ENSP00000391010:R91C;ENSP00000412457:R123C	.	R	-	1	0	XXbac-BPG181M17.5;HLA-DMB	33014505	0.001000	0.12720	0.054000	0.19295	0.400000	0.30750	-0.712000	0.05013	-0.155000	0.11098	0.637000	0.83480	CGC		0.557	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		24	39	0	0	0	1	0	24	39				
SUN1	23353	broad.mit.edu	37	7	883102	883102	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:883102C>T	ENST00000405266.1	+	5	627	c.603C>T	c.(601-603)caC>caT	p.H201H	SUN1_ENST00000425407.2_Silent_p.H151H|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Silent_p.H151H|SUN1_ENST00000457378.2_Silent_p.H222H|SUN1_ENST00000456758.2_Silent_p.H259H|SUN1_ENST00000403868.1_Silent_p.H201H|SUN1_ENST00000401592.1_Silent_p.H201H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	201					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)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCACGGCGCACCCCGCGGCCC	0.582																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(775-777)caC>caT		Sad1 and UNC84 domain containing 1							94.0	112.0	106.0					7																	883102		1972	4138	6110	SO:0001819	synonymous_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883102C>T	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.603C>T	7.37:g.883102C>T						SUN1_ENST00000452783.2_Intron|SUN1_ENST00000457378.2_Silent_p.H222H|SUN1_ENST00000425407.2_Silent_p.H151H|SUN1_ENST00000405266.1_Silent_p.H201H|SUN1_ENST00000389574.3_Silent_p.H151H|SUN1_ENST00000401592.1_Silent_p.H201H|SUN1_ENST00000403868.1_Silent_p.H201H	p.H259H			O94901	SUN1_HUMAN			8	777	+			201			EMD-binding.|SYNE2-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37	c.777C>T		.	.	.	.	.	.	.	.	.	.	C	4.369	0.067993	0.08436	.	.	ENSG00000164828	ENST00000419312	.	.	.	4.16	0.104	0.14531	.	.	.	.	.	T	0.20700	0.0498	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	-0.2933	1.564	0.02601	0.1455:0.4659:0.142:0.2466	.	.	.	.	I	42	.	.	T	+	2	0	SUN1	849628	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.772000	0.26647	0.029000	0.15352	0.591000	0.81541	ACC		0.582	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		17	123	0	0	0	1	0	17	123				
RIMS2	9699	broad.mit.edu	37	8	105161034	105161034	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105161034C>A	ENST00000436393.2	+	23	3587	c.3346C>A	c.(3346-3348)Ctg>Atg	p.L1116M	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATCGTTGGTCTGTCACGGAA	0.468										HNSCC(12;0.0054)																												ENST00000436393.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3346-3348)Ctg>Atg		regulating synaptic membrane exocytosis 2							127.0	120.0	122.0					8																	105161034		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105161034C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3346C>A	8.37:g.105161034C>A	ENSP00000390665:p.Leu1116Met	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron	p.L1116M			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3587	+			544					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3346C>A		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695468	0.30052	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.21734	1.99;2.49	5.69	5.69	0.88448	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.80722	D	1	B	0.32918	0.39	B	0.27380	0.079	T	0.02560	-1.1141	8	0.41790	T	0.15	.	13.0766	0.59091	0.0:0.9268:0.0:0.0732	.	1116	D6RA03	.	M	1105;1116	ENSP00000386228:L1105M;ENSP00000390665:L1116M	ENSP00000386228:L1105M	L	+	1	2	RIMS2	105230210	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.912000	0.56386	2.676000	0.91093	0.655000	0.94253	CTG		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		18	25	1	0	2.37509e-13	1	2.57931e-13	18	25				
IGFALS	3483	broad.mit.edu	37	16	1842413	1842413	+	Intron	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1842413A>G	ENST00000215539.3	-	2	127				IGFALS_ENST00000415638.3_Silent_p.S40S|IGFALS_ENST00000568221.1_Intron			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCGGGGGGAGAGGCTTGGG	0.721																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(118-120)tcT>tcC		insulin-like growth factor binding protein, acid labile subunit							5.0	7.0	6.0					16																	1842413		1732	3694	5426	SO:0001627	intron_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842413A>G	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.17-11T>C	16.37:g.1842413A>G						IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_Intron	p.S40S	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	199	-			0			LRRNT.		B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.120T>C	CCDS10446.1																																																																																				0.721	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			14	12	0	0	0	1	0	14	12				
NDUFS2	4720	broad.mit.edu	37	1	161176272	161176272	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161176272G>A	ENST00000367993.3	+	4	726	c.278G>A	c.(277-279)gGt>gAt	p.G93D	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000392179.4_Missense_Mutation_p.G93D	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	93					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GCAGCGCATGGTGTCCTGCGA	0.512																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(277-279)gGt>gAt		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						94.0	82.0	86.0					1																	161176272		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161176272G>A	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.278G>A	1.37:g.161176272G>A	ENSP00000356972:p.Gly93Asp					NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.G93D	p.G93D	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	517	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		93					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.278G>A	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587691	0.96590	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.96992	-4.2;-4.2	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	42;93;93	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	D	93	ENSP00000356972:G93D;ENSP00000376018:G93D	ENSP00000356972:G93D	G	+	2	0	NDUFS2	159442896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.664000	0.91139	2.854000	0.98071	0.655000	0.94253	GGT		0.512	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		15	36	0	0	0	1	0	15	36				
PCLO	27445	broad.mit.edu	37	7	82582879	82582879	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82582879T>C	ENST00000333891.9	-	5	7727	c.7390A>G	c.(7390-7392)Acc>Gcc	p.T2464A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.T2464A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACAGCTGTGGTCTCTAGAGTA	0.408																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7390-7392)Acc>Gcc		piccolo presynaptic cytomatrix protein							105.0	106.0	105.0					7																	82582879		1940	4141	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582879T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7390A>G	7.37:g.82582879T>C	ENSP00000334319:p.Thr2464Ala					PCLO_ENST00000333891.8_Missense_Mutation_p.T2464A	p.T2464A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7727	-			2395			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.7390A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933400	0.34096	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14516	2.5;2.5	4.52	-0.728	0.11162	.	.	.	.	.	T	0.03263	0.0095	N	0.00436	-1.5	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39210	-0.9625	9	0.87932	D	0	.	5.2039	0.15279	0.1834:0.5376:0.0:0.279	.	2464;2464	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2395;2464;2464	ENSP00000334319:T2464A;ENSP00000388393:T2464A	ENSP00000334319:T2464A	T	-	1	0	PCLO	82420815	0.884000	0.30299	0.707000	0.30419	0.685000	0.39939	0.692000	0.25482	-0.094000	0.12374	0.397000	0.26171	ACC		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	11	0	0	0	1	0	12	11				
OTUD7A	161725	broad.mit.edu	37	15	31851385	31851385	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31851385G>A	ENST00000307050.4	-	3	429	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R113W	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	113					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R113W(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGGGAAAGCCGCTTTTCTGCA	0.557																																						ENST00000382902.1																			1	Substitution - Missense(1)	p.R113W(1)	large_intestine(1)	endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(337-339)Cgg>Tgg		OTU domain containing 7A							32.0	31.0	32.0					15																	31851385		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31851385G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.337C>T	15.37:g.31851385G>A	ENSP00000305926:p.Arg113Trp					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R113W	p.R113W			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	3	429	-		all_lung(180;1.6e-09)	113					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.337C>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114354	0.77210	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.37584	1.19;1.19	5.75	5.75	0.90469	.	0.108661	0.64402	D	0.000007	T	0.57946	0.2088	M	0.66939	2.045	0.46725	D	0.999175	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.59731	-0.7399	10	0.87932	D	0	-14.9731	13.4104	0.60940	0.0:0.0:0.7255:0.2745	.	113;113	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	W	113	ENSP00000305926:R113W;ENSP00000372358:R113W	ENSP00000305926:R113W	R	-	1	2	OTUD7A	29638677	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	5.678000	0.68153	2.695000	0.91970	0.561000	0.74099	CGG		0.557	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		6	16	0	0	0	1	0	6	16				
DHX37	57647	broad.mit.edu	37	12	125465071	125465071	+	Missense_Mutation	SNP	C	C	T	rs373907134		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125465071C>T	ENST00000308736.2	-	4	801	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	235							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGATGAAGACGGCGGGCTTA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.001					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(703-705)Gtc>Atc		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ILE/VAL	0,4406		0,0,2203	47.0	50.0	49.0		703	1.4	0.3	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/1158	125465071	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465071C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.703G>A	12.37:g.125465071C>T	ENSP00000311135:p.Val235Ile					DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	p.V235I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	801	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		235					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.703G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488899	0.12641	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03272	4.08;3.99	5.37	1.36	0.22044	.	0.300139	0.36444	N	0.002598	T	0.02533	0.0077	N	0.20986	0.625	0.40999	D	0.984918	B	0.24768	0.111	B	0.17722	0.019	T	0.53322	-0.8455	10	0.30854	T	0.27	-18.5216	8.0916	0.30803	0.0:0.6499:0.0:0.3501	.	235	Q8IY37	DHX37_HUMAN	I	235;22	ENSP00000311135:V235I;ENSP00000439009:V22I	ENSP00000311135:V235I	V	-	1	0	DHX37	124031024	0.005000	0.15991	0.337000	0.25536	0.004000	0.04260	-0.012000	0.12699	0.585000	0.29608	0.655000	0.94253	GTC		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		25	50	0	0	0	1	0	25	50				
HERC2	8924	broad.mit.edu	37	15	28369237	28369237	+	Silent	SNP	G	G	A	rs562699983		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28369237G>A	ENST00000261609.7	-	85	13242	c.13134C>T	c.(13132-13134)ctC>ctT	p.L4378L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGAAGGCCCGAGTCCAGTTT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		17577	0.0		0.0	False		,,,				2504	0.001					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13132-13134)ctC>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							97.0	91.0	93.0					15																	28369237		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28369237G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13134C>T	15.37:g.28369237G>A							p.L4378L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	85	13242	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4378						Silent	SNP	ENST00000261609.7	37	c.13134C>T	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		29	38	0	0	0	1	0	29	38				
TTC7A	57217	broad.mit.edu	37	2	47221572	47221572	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:47221572C>A	ENST00000319190.5	+	7	1288	c.920C>A	c.(919-921)cCt>cAt	p.P307H	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.P307H|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.P273H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	307					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTGTCCCACCCTCTGCCTGAG	0.612																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(919-921)cCt>cAt		tetratricopeptide repeat domain 7A							79.0	76.0	77.0					2																	47221572		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47221572C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.920C>A	2.37:g.47221572C>A	ENSP00000316699:p.Pro307His					TTC7A_ENST00000409245.1_Missense_Mutation_p.P273H|TTC7A_ENST00000394850.2_Missense_Mutation_p.P307H|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR	p.P307H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1288	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	307					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.920C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869677	0.72065	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.34472	1.78;1.78;1.36	4.63	4.63	0.57726	.	0.063281	0.64402	D	0.000005	T	0.54743	0.1877	L	0.58101	1.795	0.80722	D	1	D;D;D;D;P	0.89917	0.999;0.991;1.0;1.0;0.654	D;P;D;D;B	0.69307	0.915;0.827;0.953;0.963;0.335	T	0.50524	-0.8818	10	0.36615	T	0.2	-3.1945	16.7677	0.85528	0.0:1.0:0.0:0.0	.	307;273;307;135;273	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	H	273;307;307;134	ENSP00000386307:P273H;ENSP00000316699:P307H;ENSP00000378320:P307H	ENSP00000316699:P307H	P	+	2	0	TTC7A	47075076	0.963000	0.33076	0.978000	0.43139	0.980000	0.70556	3.511000	0.53400	2.569000	0.86673	0.655000	0.94253	CCT		0.612	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		26	79	1	0	9.86323e-18	1	1.08645e-17	26	79				
ANKRD11	29123	broad.mit.edu	37	16	89350369	89350369	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89350369G>A	ENST00000301030.4	-	9	3041	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P861S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	861	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTCACTGGCGAGTCCCAG	0.542																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2581-2583)Cca>Tca		ankyrin repeat domain 11							65.0	68.0	67.0					16																	89350369		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350369G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2581C>T	16.37:g.89350369G>A	ENSP00000301030:p.Pro861Ser					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P861S	p.P861S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3041	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	861			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2581C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772538	0.49680	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.49139	0.79;0.79	5.14	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.56352	0.1979	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.58721	0.844;0.702	T	0.53027	-0.8496	10	0.13108	T	0.6	.	14.1344	0.65276	0.0:0.1498:0.8502:0.0	.	480;861	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	S	861;861;480	ENSP00000301030:P861S;ENSP00000367581:P861S	ENSP00000301030:P861S	P	-	1	0	ANKRD11	87877870	1.000000	0.71417	0.741000	0.31004	0.990000	0.78478	7.163000	0.77524	1.162000	0.42619	0.561000	0.74099	CCA		0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		23	34	0	0	0	1	0	23	34				
B4GALT6	9331	broad.mit.edu	37	18	29206246	29206246	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29206246C>T	ENST00000306851.5	-	8	1297	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	B4GALT6_ENST00000383131.3_Splice_Site_p.R295Q|B4GALT6_ENST00000237019.7_Splice_Site_p.R295Q	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	334					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TTCAACTTACCGTCCTAAAAA	0.388																																						ENST00000306851.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20						c.e8+1		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6							112.0	94.0	100.0					18																	29206246		2203	4300	6503	SO:0001630	splice_region_variant	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29206246C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.1001+1G>A	18.37:g.29206246C>T						B4GALT6_ENST00000237019.7_Splice_Site_p.R295_splice|B4GALT6_ENST00000383131.3_Splice_Site_p.R295_splice	p.R334_splice	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		8	1297	-			334					O60514|Q6NT09	Splice_Site	SNP	ENST00000306851.5	37	c.1001_splice	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293127	0.95546	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.37915	1.17;1.17;1.17	5.81	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.67720	0.2923	M	0.91612	3.225	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76217	-0.3040	9	.	.	.	-14.341	14.8475	0.70270	0.0:0.9311:0.0:0.0689	.	295;295;334	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	Q	334;295;295	ENSP00000306459:R334Q;ENSP00000237019:R295Q;ENSP00000372613:R295Q	.	R	-	2	0	B4GALT6	27460244	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.069000	0.71209	1.470000	0.48102	0.655000	0.94253	CGG		0.388	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	Missense_Mutation	10	23	0	0	0	1	0	10	23				
CPAMD8	27151	broad.mit.edu	37	19	17007014	17007014	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17007014G>T	ENST00000443236.1	-	41	5571	c.5540C>A	c.(5539-5541)cCt>cAt	p.P1847H	CPAMD8_ENST00000597335.1_5'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1800						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTCAGGCTCAGGGTCTGAGTC	0.612																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(5539-5541)cCt>cAt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							63.0	70.0	68.0					19																	17007014		2013	4164	6177	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17007014G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.5540C>A	19.37:g.17007014G>T	ENSP00000402505:p.Pro1847His					CPAMD8_ENST00000597335.1_5'UTR	p.P1847H	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			41	5571	-			1800					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.5540C>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.000|8.000	0.755268|0.755268	0.15846|0.15846	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	1.21|1.21	1.21|1.21	0.21127|0.21127	.|.	.|18.695400	.|0.01234	.|U	.|0.008432	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.08118|0.08118	0|0	0.23425|0.23425	N|N	0.997705|0.997705	.|B	.|0.10296	.|0.003	.|B	.|0.01281	.|0.0	T|T	0.19811|0.19811	-1.0294|-1.0294	5|9	.|0.42905	.|T	.|0.14	.|.	6.35|6.35	0.21370|0.21370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1800	.|Q8IZJ3	.|CPMD8_HUMAN	M|H	1858|1847	.|.	.|ENSP00000291440:P1847H	L|P	-|-	1|2	2|0	CPAMD8|CPAMD8	16868014|16868014	0.038000|0.038000	0.19896|0.19896	0.323000|0.323000	0.25347|0.25347	0.104000|0.104000	0.19210|0.19210	1.565000|1.565000	0.36386|0.36386	0.579000|0.579000	0.29504|0.29504	0.428000|0.428000	0.28381|0.28381	CTG|CCT		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		17	32	1	0	0.006122	1	0.0061903	17	32				
HERC3	8916	broad.mit.edu	37	4	89574198	89574198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:89574198G>A	ENST00000402738.1	+	6	881	c.642G>A	c.(640-642)tgG>tgA	p.W214*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.W214*|HERC3_ENST00000407637.1_Nonsense_Mutation_p.W214*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	214					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTTTTGGCTGGGGGATGAATA	0.507																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(640-642)tgG>tgA		HECT and RLD domain containing E3 ubiquitin protein ligase 3							65.0	74.0	71.0					4																	89574198		2203	4300	6503	SO:0001587	stop_gained	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89574198G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.642G>A	4.37:g.89574198G>A	ENSP00000385684:p.Trp214*					HERC3_ENST00000407637.1_Nonsense_Mutation_p.W214*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.W214*	p.W214*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	881	+			214					A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	ENST00000402738.1	37	c.642G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	g	36	5.766006	0.96914	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000452979;ENST00000264345	.	.	.	5.09	5.09	0.68999	.	0.121898	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	ENSP00000264345:W214X	W	+	3	0	HERC3	89793221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.260000	0.95568	2.639000	0.89480	0.586000	0.80456	TGG		0.507	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		17	28	0	0	0	1	0	17	28				
STYXL1	51657	broad.mit.edu	37	7	75630243	75630243	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75630243C>A	ENST00000248600.1	-	8	1117	c.775G>T	c.(775-777)Gcc>Tcc	p.A259S	STYXL1_ENST00000451157.1_Missense_Mutation_p.A259S|STYXL1_ENST00000431581.1_Missense_Mutation_p.A259S|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.A163S|STYXL1_ENST00000359697.3_Missense_Mutation_p.A259S	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	259	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATGAGGTAGGCTATGATGGCG	0.567																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(775-777)Gcc>Tcc		serine/threonine/tyrosine interacting-like 1							153.0	128.0	136.0					7																	75630243		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75630243C>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.775G>T	7.37:g.75630243C>A	ENSP00000248600:p.Ala259Ser					STYXL1_ENST00000431581.1_Missense_Mutation_p.A259S|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.A259S|STYXL1_ENST00000340062.5_Missense_Mutation_p.A163S|STYXL1_ENST00000248600.1_Missense_Mutation_p.A259S	p.A259S			Q9Y6J8	STYL1_HUMAN			8	944	-			259			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.775G>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173450	0.57584	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000431581;ENST00000451157	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.72	4.72	0.59763	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.81494	0.4834	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	D	0.83697	0.0180	9	0.62326	D	0.03	.	13.543	0.61686	0.0:1.0:0.0:0.0	.	259;163;259;163	C9J4H0;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;STYL1_HUMAN;.	S	259;259;163;259;259	ENSP00000248600:A259S;ENSP00000352726:A259S;ENSP00000343383:A163S;ENSP00000392221:A259S;ENSP00000411812:A259S	ENSP00000248600:A259S	A	-	1	0	STYXL1	75468179	0.998000	0.40836	0.977000	0.42913	0.169000	0.22640	4.842000	0.62831	2.344000	0.79699	0.555000	0.69702	GCC		0.567	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		20	36	1	0	2.52088e-20	1	2.79422e-20	20	36				
CTTNBP2	83992	broad.mit.edu	37	7	117368258	117368258	+	Missense_Mutation	SNP	C	C	T	rs376821321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117368258C>T	ENST00000160373.3	-	17	4031	c.3940G>A	c.(3940-3942)Gtc>Atc	p.V1314I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1314					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACGCCAGACGGACAGAGCC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16438	0.0		0.0	False		,,,				2504	0.001					ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3940-3942)Gtc>Atc		cortactin binding protein 2		C	ILE/VAL	0,4406		0,0,2203	105.0	113.0	111.0		3940	5.4	1.0	7		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTTNBP2	NM_033427.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1314/1664	117368258	1,13005	2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368258C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3940G>A	7.37:g.117368258C>T	ENSP00000160373:p.Val1314Ile						p.V1314I	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	17	4031	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1314					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3940G>A	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.093185|5.093185	0.94149|0.94149	0.0|0.0	1.16E-4|1.16E-4	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.91011	.|-2.77	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.110120	.|0.64402	.|D	.|0.000009	D|D	0.95950|0.95950	0.8681|0.8681	M|M	0.86502|0.86502	2.82|2.82	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.95058|0.95058	0.8193|0.8193	5|10	.|0.40728	.|T	.|0.16	-0.4105|-0.4105	19.5983|19.5983	0.95549|0.95549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1314	.|Q8WZ74	.|CTTB2_HUMAN	H|I	801|1314	.|ENSP00000160373:V1314I	.|ENSP00000160373:V1314I	R|V	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155494|117155494	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.920000|0.920000	0.55202|0.55202	5.334000|5.334000	0.65923|0.65923	2.704000|2.704000	0.92352|0.92352	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.572	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		13	60	0	0	0	1	0	13	60				
PKHD1L1	93035	broad.mit.edu	37	8	110509272	110509272	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110509272C>T	ENST00000378402.5	+	64	10556	c.10452C>T	c.(10450-10452)tgC>tgT	p.C3484C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3484					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGACATGCTGGGATTATG	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10450-10452)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							130.0	123.0	125.0					8																	110509272		1830	4087	5917	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509272C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10452C>T	8.37:g.110509272C>T		HNSCC(38;0.096)					p.C3484C	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10556	+			3484					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10452C>T	CCDS47911.1																																																																																				0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	45	0	0	0	1	0	14	45				
CDK5RAP2	55755	broad.mit.edu	37	9	123210312	123210312	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:123210312C>T	ENST00000349780.4	-	22	3065	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	CDK5RAP2_ENST00000360822.3_Silent_p.T930T|CDK5RAP2_ENST00000359309.3_Silent_p.T962T|CDK5RAP2_ENST00000360190.4_Silent_p.T962T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	962	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGCAGCTGCGTCACCACCT	0.483																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2884-2886)acG>acA		CDK5 regulatory subunit associated protein 2							102.0	104.0	104.0					9																	123210312		2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123210312C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2886G>A	9.37:g.123210312C>T						CDK5RAP2_ENST00000360190.4_Silent_p.T962T|CDK5RAP2_ENST00000359309.3_Silent_p.T962T|CDK5RAP2_ENST00000360822.3_Silent_p.T930T	p.T962T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			22	3065	-			962			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.2886G>A	CCDS6823.1																																																																																				0.483	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		9	72	0	0	0	1	0	9	72				
LAMC3	10319	broad.mit.edu	37	9	133936475	133936475	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133936475C>T	ENST00000361069.4	+	13	2345	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	738	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACGCTGTTTGCCAGGTTTCTA	0.622																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2212-2214)Cca>Tca		laminin, gamma 3							92.0	82.0	85.0					9																	133936475		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936475C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2212C>T	9.37:g.133936475C>T	ENSP00000354360:p.Pro738Ser					LAMC3_ENST00000480883.1_Intron	p.P738S	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2345	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	738			Laminin EGF-like 6.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2212C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	7.107	0.575310	0.13623	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.62498	0.02	4.79	2.74	0.32292	EGF-like, laminin (4);	0.376195	0.27495	N	0.019102	T	0.49115	0.1538	L	0.41906	1.305	0.09310	N	1	B	0.12013	0.005	B	0.22152	0.038	T	0.34825	-0.9813	10	0.28530	T	0.3	.	8.6307	0.33917	0.1576:0.5422:0.3002:0.0	.	738	Q9Y6N6	LAMC3_HUMAN	S	738	ENSP00000354360:P738S	ENSP00000347156:P738S	P	+	1	0	LAMC3	132926296	0.025000	0.19082	0.844000	0.33320	0.029000	0.11900	0.457000	0.21875	0.969000	0.38237	0.557000	0.71058	CCA		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	27	0	0	0	1	0	13	27				
LDLRAD4	753	broad.mit.edu	37	18	13645549	13645549	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:13645549C>T	ENST00000359446.5	+	6	1282	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R235C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R254C|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R195C|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R272C|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R174C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R217C	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	272					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCATCACCAGCGCAGCAACGC	0.582																																						ENST00000361205.4																			0											c.(814-816)Cgc>Tgc		low density lipoprotein receptor class A domain containing 4							48.0	52.0	51.0					18																	13645549		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645549C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.814C>T	18.37:g.13645549C>T	ENSP00000352420:p.Arg272Cys					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R254C|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R217C|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R195C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R235C|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R174C|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R272C	p.R272C	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1482	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.814C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859232	0.51376	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26810	1.71;1.71	4.85	3.96	0.45880	.	0.145291	0.64402	D	0.000007	T	0.20007	0.0481	N	0.08118	0	0.44611	D	0.997585	P;D;P;D;P;P	0.65815	0.673;0.995;0.673;0.995;0.818;0.917	B;P;B;P;B;B	0.49047	0.032;0.599;0.019;0.599;0.02;0.326	T	0.11275	-1.0594	10	0.72032	D	0.01	-2.0649	14.3023	0.66362	0.1499:0.8501:0.0:0.0	.	196;214;217;235;254;272	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	C	272;254;235;217;214;196	ENSP00000354753:R272C;ENSP00000382741:R254C	ENSP00000352420:R235C	R	+	1	0	C18orf1	13635549	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	5.070000	0.64376	1.020000	0.39573	0.655000	0.94253	CGC		0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		21	29	0	0	0	1	0	21	29				
CNNM2	54805	broad.mit.edu	37	10	104678884	104678884	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104678884G>A	ENST00000369878.4	+	1	835	c.647G>A	c.(646-648)gGt>gAt	p.G216D	CNNM2_ENST00000433628.2_Missense_Mutation_p.G216D|CNNM2_ENST00000369875.3_Missense_Mutation_p.G216D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	216					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGGCAAGGGTGGCTCGGGG	0.697																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(646-648)gGt>gAt		cyclin M2							14.0	17.0	16.0					10																	104678884		2063	4174	6237	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678884G>A	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.647G>A	10.37:g.104678884G>A	ENSP00000358894:p.Gly216Asp					CNNM2_ENST00000457502.2_5'UTR|CNNM2_ENST00000369875.3_Missense_Mutation_p.G216D|CNNM2_ENST00000433628.2_Missense_Mutation_p.G216D	p.G216D	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	771	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	216					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.647G>A	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580573	0.13686	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.76060	-0.75;-0.99;-0.75	4.1	3.2	0.36748	.	0.597033	0.17355	N	0.177268	T	0.52289	0.1725	N	0.08118	0	0.24342	N	0.994958	B;B;B	0.13594	0.0;0.008;0.0	B;B;B	0.12156	0.0;0.007;0.003	T	0.39461	-0.9613	10	0.28530	T	0.3	-19.1533	9.8674	0.41152	0.0972:0.0:0.9028:0.0	.	216;216;216	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	D	216	ENSP00000392875:G216D;ENSP00000358891:G216D;ENSP00000358894:G216D	ENSP00000286899:G216D	G	+	2	0	CNNM2	104668874	0.659000	0.27411	0.992000	0.48379	0.142000	0.21351	0.000000	0.12993	0.936000	0.37367	-0.258000	0.10820	GGT		0.697	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		12	15	0	0	0	1	0	12	15				
PCDHA8	56140	broad.mit.edu	37	5	140222014	140222014	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140222014G>A	ENST00000531613.1	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370T(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGTCATCGCCCTAATTAG	0.488																																						ENST00000531613.1																			2	Substitution - Missense(2)	p.A370T(2)	large_intestine(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1108-1110)Gcc>Acc									118.0	109.0	112.0					5																	140222014		2203	4297	6500	SO:0001583	missense	0							g.chr5:140222014G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1108G>A	5.37:g.140222014G>A	ENSP00000434655:p.Ala370Thr					PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370T|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A370T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1108	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1108G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983412	0.93044	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01804	4.63;4.63	3.57	2.66	0.31614	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002579	T	0.05593	0.0147	L	0.58302	1.8	0.27539	N	0.950869	D;D	0.69078	0.979;0.997	P;P	0.57548	0.823;0.799	T	0.05305	-1.0893	10	0.59425	D	0.04	.	12.1706	0.54157	0.0:0.0:0.8271:0.1728	.	370;370	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	370	ENSP00000434655:A370T;ENSP00000367363:A370T	ENSP00000367363:A370T	A	+	1	0	PCDHA8	140202198	1.000000	0.71417	0.426000	0.26672	0.663000	0.39108	3.998000	0.57024	0.581000	0.29539	0.306000	0.20318	GCC		0.488	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		46	62	0	0	0	1	0	46	62				
ACVR1B	91	broad.mit.edu	37	12	52385742	52385742	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52385742C>T	ENST00000257963.4	+	8	1434	c.1357C>T	c.(1357-1359)Cgt>Tgt	p.R453C	ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCAGAAGCTGCGTCCCAACAT	0.498																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1357-1359)Cgt>Tgt		activin A receptor, type IB	Adenosine triphosphate(DB00171)						157.0	135.0	142.0					12																	52385742		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52385742C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1357C>T	12.37:g.52385742C>T	ENSP00000257963:p.Arg453Cys					ACVR1B_ENST00000542485.1_Missense_Mutation_p.R401C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R494C|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R453C|ACVR1B_ENST00000563121.1_3'UTR	p.R453C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	8	1434	+			453			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1357C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917380	0.73098	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000542485	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.05	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93055	0.6469	10	0.87932	D	0	.	17.5301	0.87811	0.0:1.0:0.0:0.0	.	494;453;453	P36896-4;P36896;P36896-2	.;ACV1B_HUMAN;.	C	453;494;453;401	ENSP00000257963:R453C;ENSP00000442656:R494C;ENSP00000390477:R453C;ENSP00000442885:R401C	ENSP00000257963:R453C	R	+	1	0	ACVR1B	50672009	0.990000	0.36364	0.996000	0.52242	0.967000	0.64934	2.905000	0.48727	2.545000	0.85829	0.462000	0.41574	CGT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		36	45	0	0	0	1	0	36	45				
SIPA1L2	57568	broad.mit.edu	37	1	232564227	232564227	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:232564227A>G	ENST00000366630.1	-	16	4698	c.4340T>C	c.(4339-4341)gTt>gCt	p.V1447A	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V521A|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1447A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1447					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAGACAGAACATGTTGAGT	0.453																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4339-4341)gTt>gCt		signal-induced proliferation-associated 1 like 2							81.0	75.0	77.0					1																	232564227		1897	4125	6022	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232564227A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4340T>C	1.37:g.232564227A>G	ENSP00000355589:p.Val1447Ala					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1447A|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V521A	p.V1447A			Q9P2F8	SI1L2_HUMAN			16	4698	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1447					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4340T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	9.486	1.099314	0.20552	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.29655	1.56;1.56;1.56	5.86	4.67	0.58626	.	0.553805	0.18176	N	0.149284	T	0.22044	0.0531	N	0.25647	0.755	0.31764	N	0.632917	B;P	0.39022	0.164;0.655	B;B	0.40677	0.09;0.337	T	0.06006	-1.0851	10	0.11485	T	0.65	-17.8082	11.6852	0.51481	0.7289:0.2711:0.0:0.0	.	1447;521	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	A	1447;1447;521	ENSP00000355589:V1447A;ENSP00000262861:V1447A;ENSP00000309102:V521A	ENSP00000262861:V1447A	V	-	2	0	SIPA1L2	230630850	0.906000	0.30813	0.390000	0.26220	0.605000	0.37080	3.085000	0.50151	2.241000	0.73720	0.533000	0.62120	GTT		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		33	44	0	0	0	1	0	33	44				
ATP13A1	57130	broad.mit.edu	37	19	19762591	19762591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19762591C>A	ENST00000357324.6	-	17	2268	c.2242G>T	c.(2242-2244)Gga>Tga	p.G748*	ATP13A1_ENST00000291503.5_Nonsense_Mutation_p.G630*|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	748						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTTGTCTCCCGTGATCATG	0.597																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2242-2244)Gga>Tga		ATPase type 13A1							120.0	90.0	100.0					19																	19762591		2203	4300	6503	SO:0001587	stop_gained	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19762591C>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2242G>T	19.37:g.19762591C>A	ENSP00000349877:p.Gly748*					ATP13A1_ENST00000291503.5_Nonsense_Mutation_p.G630*	p.G748*	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			17	2268	-			748					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Nonsense_Mutation	SNP	ENST00000357324.6	37	c.2242G>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	38	7.274310	0.98179	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1869	14.7896	0.69830	0.0:1.0:0.0:0.0	.	.	.	.	X	630;748	.	ENSP00000291503:G630X	G	-	1	0	ATP13A1	19623591	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.376000	0.79658	2.082000	0.62665	0.563000	0.77884	GGA		0.597	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		7	15	1	0	0.000157383	1	0.000161063	7	15				
POMGNT1	55624	broad.mit.edu	37	1	46661564	46661564	+	Silent	SNP	C	C	T	rs146121135	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46661564C>T	ENST00000371984.3	-	6	610	c.453G>A	c.(451-453)acG>acA	p.T151T	POMGNT1_ENST00000371992.1_Silent_p.T151T|POMGNT1_ENST00000371986.3_Silent_p.T151T|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000396420.3_Silent_p.T151T|POMGNT1_ENST00000535522.1_Silent_p.T129T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	151					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGGTGAGTACGTGTCAAACA	0.547																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(451-453)acG>acA		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)		C		6,4400	11.4+/-27.6	0,6,2197	118.0	92.0	100.0		453	-11.2	0.4	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POMGNT1	NM_017739.3		0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538		151/661	46661564	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46661564C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.453G>A	1.37:g.46661564C>T						POMGNT1_ENST00000535522.1_Silent_p.T129T|POMGNT1_ENST00000371984.3_Silent_p.T151T|POMGNT1_ENST00000371986.3_Silent_p.T151T|POMGNT1_ENST00000371992.1_Silent_p.T151T	p.T151T			Q8WZA1	PMGT1_HUMAN			6	1089	-	Acute lymphoblastic leukemia(166;0.155)		151					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.453G>A	CCDS531.1																																																																																				0.547	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		4	26	0	0	0	1	0	4	26				
RXRG	6258	broad.mit.edu	37	1	165386316	165386316	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:165386316C>T	ENST00000359842.5	-	4	886	c.584G>A	c.(583-585)cGc>cAc	p.R195H	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	195					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTTCTGATAGCGACAGTACTG	0.507																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(583-585)cGc>cAc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						113.0	99.0	104.0					1																	165386316		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165386316C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.584G>A	1.37:g.165386316C>T	ENSP00000352900:p.Arg195His					RXRG_ENST00000470566.1_5'UTR	p.R195H	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			4	886	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		195					A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.584G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281304	0.95489	.	.	ENSG00000143171	ENST00000359842	D	0.98585	-5.01	4.96	4.96	0.65561	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99851	4.845	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.97492	1.0054	9	0.87932	D	0	.	16.9732	0.86306	0.0:1.0:0.0:0.0	.	195	P48443	RXRG_HUMAN	H	195	ENSP00000352900:R195H	ENSP00000352900:R195H	R	-	2	0	RXRG	163652940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.565000	0.86533	0.655000	0.94253	CGC		0.507	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		21	31	0	0	0	1	0	21	31				
STX8	9482	broad.mit.edu	37	17	9395227	9395227	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9395227C>T	ENST00000306357.4	-	6	887	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	STX8_ENST00000574431.1_Missense_Mutation_p.G43S	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	154	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCATCAAGGCCTGCGTCCTGT	0.363																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(460-462)Ggc>Agc		syntaxin 8							152.0	142.0	145.0					17																	9395227		2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9395227C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.460G>A	17.37:g.9395227C>T	ENSP00000305255:p.Gly154Ser					STX8_ENST00000574431.1_Missense_Mutation_p.G43S	p.G154S	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			6	887	-			154			t-SNARE coiled-coil homology.		O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.460G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867555	0.91587	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.88	4.91	0.64330	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71702	-0.4513	9	0.52906	T	0.07	-9.0885	14.1579	0.65428	0.0:0.9268:0.0:0.0732	.	154	Q9UNK0	STX8_HUMAN	S	154	.	ENSP00000305255:G154S	G	-	1	0	STX8	9335952	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	6.429000	0.73387	1.495000	0.48549	0.591000	0.81541	GGC		0.363	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		21	77	0	0	0	1	0	21	77				
ZFHX4	79776	broad.mit.edu	37	8	77618377	77618377	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:77618377G>T	ENST00000521891.2	+	2	2502	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCACCCCAGGCTTGCCCGG	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2053-2055)aGg>aTg		zinc finger homeobox 4							43.0	47.0	46.0					8																	77618377		2117	4258	6375	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618377G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2054G>T	8.37:g.77618377G>T	ENSP00000430497:p.Arg685Met	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685M	p.R685M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2502	+			685					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2054G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811608	0.50527	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57595	0.45;0.44;0.41;0.39	4.93	4.93	0.64822	.	0.000000	0.45867	U	0.000337	T	0.75838	0.3904	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;0.997;1.0	T	0.79617	-0.1729	10	0.87932	D	0	.	18.6814	0.91547	0.0:0.0:1.0:0.0	.	685;685;685;685	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	M	685	ENSP00000430497:R685M;ENSP00000399605:R685M;ENSP00000050961:R685M;ENSP00000430848:R685M	ENSP00000050961:R685M	R	+	2	0	ZFHX4	77780932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.710000	0.92621	0.650000	0.86243	AGG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	16	1	0	0.00829132	1	0.00837884	11	16				
ASUN	55726	broad.mit.edu	37	12	27081709	27081709	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:27081709G>A	ENST00000261191.7	-	4	966	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	ASUN_ENST00000539625.1_Missense_Mutation_p.R43C	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	144					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)											AGTAGAGTACGAGCCTCATGT	0.423																																						ENST00000261191.7																			0											c.(430-432)Cgt>Tgt		asunder spermatogenesis regulator							126.0	115.0	119.0					12																	27081709		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27081709G>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.430C>T	12.37:g.27081709G>A	ENSP00000261191:p.Arg144Cys					ASUN_ENST00000539625.1_Missense_Mutation_p.R43C	p.R144C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			4	966	-			144					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.430C>T	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229727	0.79688	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548;ENST00000537336	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.37	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.61703	1.905	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.45086	-0.9285	10	0.72032	D	0.01	-14.2597	9.4816	0.38904	0.0724:0.0:0.7862:0.1414	.	144	Q9NVM9	M89BB_HUMAN	C	144;43;43;144;144	ENSP00000261191:R144C;ENSP00000443724:R43C;ENSP00000448467:R43C;ENSP00000446183:R144C;ENSP00000443066:R144C	ENSP00000261191:R144C	R	-	1	0	C12orf11	26972976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.052000	0.76634	1.402000	0.46780	0.591000	0.81541	CGT		0.423	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		30	48	0	0	0	1	0	30	48				
ACTN1	87	broad.mit.edu	37	14	69345205	69345205	+	Intron	SNP	G	G	A	rs374748072		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:69345205G>A	ENST00000193403.6	-	19	2745				ACTN1_ENST00000376839.3_Silent_p.R707R|ACTN1_ENST00000394419.4_Silent_p.R799R|ACTN1_ENST00000438964.2_Silent_p.R772R|ACTN1_ENST00000538545.2_Silent_p.R772R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						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)			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)		TCAGGCAGGCGCGGAAATCAT	0.602																																						ENST00000394419.4																			0				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						c.(2395-2397)cgC>cgT		actinin, alpha 1		G	,,	0,3136		0,0,1568	49.0	46.0	47.0		,2397,2316	-0.2	1.0	14		47	1,7163		0,1,3581	no	intron,coding-synonymous,coding-synonymous	ACTN1	NM_001102.3,NM_001130004.1,NM_001130005.1	,,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,,	,799/915,772/888	69345205	1,10299	1568	3582	5150	SO:0001627	intron_variant	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.chr14:69345205G>A	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.2361+500C>T	14.37:g.69345205G>A						ACTN1_ENST00000438964.2_Silent_p.R772R|ACTN1_ENST00000193403.6_Intron|ACTN1_ENST00000538545.2_Silent_p.R772R|ACTN1_ENST00000376839.3_Silent_p.R707R	p.R799R	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	20	2579	-			787			EF-hand 2.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2397C>T	CCDS9792.1																																																																																				0.602	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		12	48	0	0	0	1	0	12	48				
SOGA1	140710	broad.mit.edu	37	20	35443659	35443659	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35443659C>T	ENST00000357779.3	-	5	1798	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	SOGA1_ENST00000456801.2_Missense_Mutation_p.R332Q|SOGA1_ENST00000279034.6_Missense_Mutation_p.R491Q|SOGA1_ENST00000237536.4_Missense_Mutation_p.R729Q			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	491					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ATCTGCCTTCCGCGTGAAGGC	0.622																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2185-2187)cGg>cAg		suppressor of glucose, autophagy associated 1							60.0	69.0	66.0					20																	35443659		2199	4294	6493	SO:0001583	missense	140710							g.chr20:35443659C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1472G>A	20.37:g.35443659C>T	ENSP00000350424:p.Arg491Gln					SOGA1_ENST00000456801.2_Missense_Mutation_p.R332Q|SOGA1_ENST00000279034.5_Missense_Mutation_p.R491Q|SOGA1_ENST00000357779.3_Missense_Mutation_p.R491Q	p.R729Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2527	-			491					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2186G>A		.	.	.	.	.	.	.	.	.	.	C	14.46	2.543194	0.45280	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.17691	2.26;2.26;2.27;2.27	5.04	5.04	0.67666	.	0.131490	0.50627	D	0.000107	T	0.19565	0.0470	L	0.44542	1.39	0.27988	N	0.935795	D	0.55385	0.971	P	0.48166	0.569	T	0.06570	-1.0819	10	0.39692	T	0.17	-35.0276	10.8385	0.46700	0.0:0.9128:0.0:0.0872	.	491	O94964-4	.	Q	729;491;332;491	ENSP00000237536:R729Q;ENSP00000279034:R491Q;ENSP00000413886:R332Q;ENSP00000350424:R491Q	ENSP00000237536:R729Q	R	-	2	0	KIAA0889	34877073	0.993000	0.37304	0.062000	0.19696	0.046000	0.14306	4.478000	0.60230	2.629000	0.89072	0.561000	0.74099	CGG		0.622	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		29	33	0	0	0	1	0	29	33				
PRKAG1	5571	broad.mit.edu	37	12	49397614	49397614	+	Missense_Mutation	SNP	G	G	A	rs201082529		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49397614G>A	ENST00000548065.1	-	9	1085	c.629C>T	c.(628-630)aCc>aTc	p.T210I	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.T159I|PRKAG1_ENST00000316299.5_Missense_Mutation_p.T219I|PRKAG1_ENST00000395170.3_Missense_Mutation_p.T126I|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.T178I|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	210	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GACGGGGGTGGTAGTGCGAAC	0.522																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(628-630)aCc>aTc		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							150.0	150.0	150.0					12																	49397614		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49397614G>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.629C>T	12.37:g.49397614G>A	ENSP00000447433:p.Thr210Ile					PRKAG1_ENST00000547306.1_Missense_Mutation_p.T159I|PRKAG1_ENST00000316299.5_Missense_Mutation_p.T219I|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.T126I|PRKAG1_ENST00000552212.1_Missense_Mutation_p.T178I|RP11-386G11.5_ENST00000547866.1_RNA	p.T210I			P54619	AAKG1_HUMAN			9	1085	-			210			CBS 3.		B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.629C>T	CCDS8777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.870057|1.870057	0.33069|0.33069	.|.	.|.	ENSG00000181929|ENSG00000181929	ENST00000551770;ENST00000551696|ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950	D;D|D;D;D;D;D;D	0.88586|0.93953	-1.89;-2.4|-3.32;-3.32;-3.32;-3.32;-3.32;-2.95	4.97|4.97	3.03|3.03	0.35002|0.35002	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	.|0.277214	.|0.40222	.|N	.|0.001156	D|D	0.92466|0.92466	0.7608|0.7608	M|M	0.80028|0.80028	2.48|2.48	0.36268|0.36268	D|D	0.854988|0.854988	.|B;B	.|0.31040	.|0.305;0.033	.|B;B	.|0.35607	.|0.206;0.101	D|D	0.91568|0.91568	0.5269|0.5269	7|10	0.40728|0.72032	T|D	0.16|0.01	-12.1406|-12.1406	7.6591|7.6591	0.28392|0.28392	0.0:0.2934:0.4232:0.2835|0.0:0.2934:0.4232:0.2835	.|.	.|219;210	.|Q8N7V9;P54619	.|.;AAKG1_HUMAN	S|I	143;117|126;159;219;210;178;126	ENSP00000449121:P143S;ENSP00000447671:P117S|ENSP00000378599:T126I;ENSP00000448873:T159I;ENSP00000323867:T219I;ENSP00000447433:T210I;ENSP00000448972:T178I;ENSP00000450112:T126I	ENSP00000447671:P117S|ENSP00000323867:T219I	P|T	-|-	1|2	0|0	PRKAG1|PRKAG1	47683881|47683881	0.871000|0.871000	0.30034|0.30034	0.861000|0.861000	0.33841|0.33841	0.977000|0.977000	0.68977|0.68977	0.667000|0.667000	0.25112|0.25112	0.611000|0.611000	0.30052|0.30052	0.591000|0.591000	0.81541|0.81541	CCA|ACC		0.522	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		42	69	0	0	0	1	0	42	69				
SLC38A10	124565	broad.mit.edu	37	17	79226449	79226449	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79226449G>A	ENST00000374759.3	-	13	1874	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	SLC38A10_ENST00000288439.5_Silent_p.H497H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	497					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGGAGGCTCGTGGCGGTGGG	0.622																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1489-1491)caC>caT		solute carrier family 38, member 10							60.0	50.0	53.0					17																	79226449		2200	4295	6495	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226449G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1491C>T	17.37:g.79226449G>A						SLC38A10_ENST00000288439.5_Silent_p.H497H	p.H497H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1874	-	all_neural(118;0.0804)|Melanoma(429;0.242)		497					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1491C>T	CCDS42397.1																																																																																				0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		26	24	0	0	0	1	0	26	24				
GPR119	139760	broad.mit.edu	37	X	129519098	129519098	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129519098C>T	ENST00000276218.2	-	1	413	c.324G>A	c.(322-324)aaG>aaA	p.K108K		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	108					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGAAGGGCTGCTTGATGGCAA	0.577																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(322-324)aaG>aaA		G protein-coupled receptor 119							119.0	116.0	117.0					X																	129519098		2203	4300	6503	SO:0001819	synonymous_variant	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519098C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.324G>A	X.37:g.129519098C>T							p.K108K	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	413	-			108					Q495H7|Q4VBN3	Silent	SNP	ENST00000276218.2	37	c.324G>A	CCDS14625.1																																																																																				0.577	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		41	9	0	0	0	1	0	41	9				
CDH6	1004	broad.mit.edu	37	5	31305303	31305303	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31305303A>C	ENST00000265071.2	+	7	1287	c.1022A>C	c.(1021-1023)aAa>aCa	p.K341T	CDH6_ENST00000514738.1_Missense_Mutation_p.K286T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	341	Cadherin 3. {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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAAGAAGAAAGTGTATACC	0.438																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1021-1023)aAa>aCa		cadherin 6, type 2, K-cadherin (fetal kidney)							80.0	81.0	80.0					5																	31305303		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305303A>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1022A>C	5.37:g.31305303A>C	ENSP00000265071:p.Lys341Thr					CDH6_ENST00000514738.1_Missense_Mutation_p.K286T	p.K341T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			7	1287	+			341			Cadherin 3.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1022A>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204956	0.38905	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52295	0.67;0.67	5.97	3.57	0.40892	Cadherin (5);Cadherin-like (1);	0.343317	0.32430	N	0.006110	T	0.37812	0.1017	L	0.39692	1.235	0.36658	D	0.877777	B;B	0.28233	0.142;0.204	B;B	0.30646	0.118;0.113	T	0.40627	-0.9553	10	0.41790	T	0.15	.	9.2587	0.37599	0.8:0.0:0.2:0.0	.	341;341	P55285;P55285-2	CADH6_HUMAN;.	T	286;341	ENSP00000424843:K286T;ENSP00000265071:K341T	ENSP00000265071:K341T	K	+	2	0	CDH6	31341060	0.724000	0.28038	1.000000	0.80357	0.994000	0.84299	1.470000	0.35354	1.042000	0.40150	0.533000	0.62120	AAA		0.438	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		32	23	0	0	0	1	0	32	23				
SNX24	28966	broad.mit.edu	37	5	122272467	122272467	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:122272467T>C	ENST00000261369.4	+	2	284	c.99T>C	c.(97-99)caT>caC	p.H33H	SNX24_ENST00000395451.4_Silent_p.H66H|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Silent_p.H33H|SNX24_ENST00000513881.1_Silent_p.H33H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAAGAAAACATTTTGTTGAAA	0.303																																						ENST00000261369.4																			0				lung(5)	5						c.(97-99)caT>caC		sorting nexin 24							127.0	116.0	119.0					5																	122272467		2203	4299	6502	SO:0001819	synonymous_variant	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122272467T>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.99T>C	5.37:g.122272467T>C						SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Silent_p.H33H|SNX24_ENST00000395451.4_Silent_p.H66H|SNX24_ENST00000506996.1_Silent_p.H33H	p.H33H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	284	+		Prostate(80;0.0387)	33			PX.		Q6UY33	Silent	SNP	ENST00000261369.4	37	c.99T>C	CCDS4132.1																																																																																				0.303	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		17	39	0	0	0	1	0	17	39				
FGF23	8074	broad.mit.edu	37	12	4479680	4479680	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:4479680G>A	ENST00000237837.1	-	3	730	c.585C>T	c.(583-585)ccC>ccT	p.P195P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	195			P -> S (in dbSNP:rs13312793). {ECO:0000269|Ref.5}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCCGGGCCCGGGGCTTCAGCA	0.682																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(583-585)ccC>ccT		fibroblast growth factor 23							16.0	21.0	19.0					12																	4479680		2190	4295	6485	SO:0001819	synonymous_variant	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479680G>A	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.585C>T	12.37:g.4479680G>A							p.P195P	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	730	-			195		P -> S (in dbSNP:rs13312793).			Q4V758	Silent	SNP	ENST00000237837.1	37	c.585C>T	CCDS8526.1																																																																																				0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			11	20	0	0	0	1	0	11	20				
KIAA1549L	25758	broad.mit.edu	37	11	33596410	33596410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33596410C>T	ENST00000321505.4	+	9	3682	c.3502C>T	c.(3502-3504)Caa>Taa	p.Q1168*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1174*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1174*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1168						integral component of membrane (GO:0016021)											TGTCCTTCTGCAAGCTGACCG	0.438																																						ENST00000321505.4																			0											c.(3502-3504)Caa>Taa		KIAA1549-like							145.0	138.0	140.0					11																	33596410		1995	4178	6173	SO:0001587	stop_gained	25758							g.chr11:33596410C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3502C>T	11.37:g.33596410C>T	ENSP00000315295:p.Gln1168*					KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1174*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1174*	p.Q1168*							9	3682	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.3502C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	45	11.353247	0.99550	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.3903	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	X	1168;1174;1174;1007	.	ENSP00000265654:Q1174X	Q	+	1	0	C11orf41	33552986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.476000	0.81055	2.650000	0.89964	0.655000	0.94253	CAA		0.438	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		38	62	0	0	0	1	0	38	62				
TSHZ3	57616	broad.mit.edu	37	19	31769229	31769229	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:31769229C>T	ENST00000240587.4	-	2	1797	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	490					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCGCCAGGCTTGTCTTTTT	0.468																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1468-1470)aaG>aaA		teashirt zinc finger homeobox 3							186.0	189.0	188.0					19																	31769229		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769229C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1470G>A	19.37:g.31769229C>T							p.K490K	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1797	-	Esophageal squamous(110;0.226)		490					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1470G>A	CCDS12421.2																																																																																				0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		66	129	0	0	0	1	0	66	129				
PLPPR5	163404	broad.mit.edu	37	1	99470129	99470129	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:99470129C>T	ENST00000263177.4	-	1	320	c.99G>A	c.(97-99)acG>acA	p.T33T	LPPR5_ENST00000534652.1_5'Flank|LPPR5_ENST00000370188.3_Silent_p.T33T|RP5-896L10.1_ENST00000425113.1_RNA	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		33						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TGAACGTGTCCGTATACTCGA	0.642																																						ENST00000370188.3																			0											c.(97-99)acG>acA									102.0	79.0	86.0					1																	99470129		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	hydrolase activity	g.chr1:99470129C>T																												ENST00000263177.4:c.99G>A	1.37:g.99470129C>T						LPPR5_ENST00000263177.4_Silent_p.T33T|RP5-896L10.1_ENST00000425113.1_RNA	p.T33T	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			1	459	-			33					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.99G>A	CCDS30778.1																																																																																				0.642	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			23	38	0	0	0	1	0	23	38				
VAX1	11023	broad.mit.edu	37	10	118891815	118891815	+	IGR	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118891815T>C	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Splice_Site	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TTTTTTATCCTTCAAATATAA	0.393																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.e4-2		ventral anterior homeobox 1							45.0	52.0	50.0					10																	118891815		2203	4300	6503	SO:0001628	intergenic_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118891815T>C	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891815T>C								NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	4	712	-								B1AVW5|Q6ZSX0	Splice_Site	SNP	ENST00000369206.5	37		CCDS44483.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.302998	0.23736	.	.	ENSG00000148704	ENST00000277905	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3926	0.60832	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAX1	118881805	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.376000	0.52417	2.187000	0.69744	0.533000	0.62120	.		0.393	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		18	18	0	0	0	1	0	18	18				
TAC1	6863	broad.mit.edu	37	7	97363108	97363108	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:97363108G>A	ENST00000319273.5	+	3	494	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TAC1_ENST00000350485.4_Missense_Mutation_p.G66E|TAC1_ENST00000346867.4_Missense_Mutation_p.G66E	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	66					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					CAGTTCTTTGGATTAATGGGC	0.587																																						ENST00000319273.5																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(196-198)gGa>gAa		tachykinin, precursor 1	Bacitracin(DB00626)						95.0	84.0	88.0					7																	97363108		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97363108G>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.197G>A	7.37:g.97363108G>A	ENSP00000321106:p.Gly66Glu					TAC1_ENST00000350485.4_Missense_Mutation_p.G66E|TAC1_ENST00000346867.4_Missense_Mutation_p.G66E	p.G66E	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN			3	494	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		66					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.197G>A	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650649	0.87958	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	5.26	5.26	0.73747	Tachykinin/Neurokinin-like, conserved site (1);Tachykinin (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.999	T	0.79174	-0.1912	9	0.87932	D	0	-14.4924	16.7358	0.85446	0.0:0.0:1.0:0.0	.	66;66;66;66	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	E	66	.	ENSP00000321106:G66E	G	+	2	0	TAC1	97201044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.284000	0.72652	2.626000	0.88956	0.561000	0.74099	GGA		0.587	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		35	60	0	0	0	1	0	35	60				
KIAA1257	57501	broad.mit.edu	37	3	128712142	128712142	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:128712142C>T	ENST00000265068.5	-	2	173	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIAA1257_ENST00000515659.1_5'Flank|KIAA1257_ENST00000511438.1_Silent_p.S2S|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	2										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AGGCATGTAGCGACATGCTGC	0.617																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(4-6)tcG>tcA		KIAA1257							18.0	20.0	20.0					3																	128712142		2067	4211	6278	SO:0001819	synonymous_variant	57501							g.chr3:128712142C>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.6G>A	3.37:g.128712142C>T						KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Silent_p.S2S	p.S2S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			2	173	-			2					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.6G>A	CCDS46905.1																																																																																				0.617	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		4	11	0	0	0	1	0	4	11				
ZACN	353174	broad.mit.edu	37	17	74077421	74077421	+	Missense_Mutation	SNP	G	G	A	rs143316623	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74077421G>A	ENST00000334586.5	+	6	690	c.607G>A	c.(607-609)Gta>Ata	p.V203I	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	203					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAGGGAATACGTAGTTTATGA	0.562													G|||	10	0.00199681	0.0076	0.0	5008	,	,		18766	0.0		0.0	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(607-609)Gta>Ata		zinc activated ligand-gated ion channel		G	,,,,,ILE/VAL	15,4391	22.3+/-47.3	0,15,2188	183.0	176.0	178.0		,,,,,607	2.6	0.0	17	dbSNP_134	178	1,8599		0,1,4299	yes	utr-3,utr-3,utr-3,utr-3,utr-3,missense	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,29	0,16,6487	AA,AG,GG		0.0116,0.3404,0.123	,,,,,possibly-damaging	,,,,,203/413	74077421	16,12990	2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077421G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.607G>A	17.37:g.74077421G>A	ENSP00000334854:p.Val203Ile					EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	p.V203I	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			6	690	+			203					Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.607G>A	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056102	0.55325	0.003404	1.16E-4	ENSG00000186919	ENST00000334586	T	0.77750	-1.12	4.73	2.6	0.31112	Neurotransmitter-gated ion-channel ligand-binding (2);	0.340242	0.24465	N	0.038296	T	0.68869	0.3048	M	0.63428	1.95	0.09310	N	0.999996	P	0.44627	0.839	B	0.39935	0.314	T	0.64711	-0.6343	10	0.59425	D	0.04	-17.6667	3.7632	0.08611	0.2295:0.207:0.5636:0.0	.	203	Q401N2	ZACN_HUMAN	I	203	ENSP00000334854:V203I	ENSP00000334854:V203I	V	+	1	0	ZACN	71589016	0.000000	0.05858	0.002000	0.10522	0.852000	0.48524	0.386000	0.20702	1.215000	0.43411	0.561000	0.74099	GTA		0.562	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		46	81	0	0	0	1	0	46	81				
AKAP9	10142	broad.mit.edu	37	7	91630560	91630560	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91630560G>T	ENST00000359028.2	+	9	1590	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q443H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q455H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	455	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTATGGGCAGCAGATAGTGC	0.408			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(1363-1365)caG>caT		A kinase (PRKA) anchor protein 9							107.0	114.0	112.0					7																	91630560		2203	4298	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630560G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1365G>T	7.37:g.91630560G>T	ENSP00000351922:p.Gln455His					AKAP9_ENST00000358100.2_Missense_Mutation_p.Q455H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q443H	p.Q455H			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1590	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		455			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1365G>T		.	.	.	.	.	.	.	.	.	.	G	12.37	1.918653	0.33908	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05649	3.43;3.43;3.41	5.41	3.62	0.41486	.	0.188686	0.26255	N	0.025435	T	0.16557	0.0398	L	0.50333	1.59	0.45097	D	0.998115	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.70935	0.936;0.971;0.961;0.939	T	0.00307	-1.1830	10	0.87932	D	0	.	9.4189	0.38539	0.2173:0.0:0.7827:0.0	.	455;443;443;455	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	443;455;455;455;455	ENSP00000348573:Q443H;ENSP00000351922:Q455H;ENSP00000350813:Q455H	ENSP00000348573:Q443H	Q	+	3	2	AKAP9	91468496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.781000	0.62389	0.771000	0.33359	0.650000	0.86243	CAG		0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		14	67	1	0	1.3612e-06	1	1.41782e-06	14	67				
MTUS2	23281	broad.mit.edu	37	13	29598970	29598970	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29598970C>T	ENST00000431530.3	+	1	223	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	45						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGAGGTCAGCTCCTCTCATG	0.418																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(163-165)agC>agT		microtubule associated tumor suppressor candidate 2							58.0	55.0	56.0					13																	29598970		1931	4131	6062	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29598970C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.165C>T	13.37:g.29598970C>T							p.S55S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	223	+			45					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.165C>T	CCDS45022.1																																																																																				0.418	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	21	0	0	0	1	0	8	21				
KMT2C	58508	broad.mit.edu	37	7	151921189	151921189	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151921189G>A	ENST00000262189.6	-	20	3452	c.3234C>T	c.(3232-3234)tgC>tgT	p.C1078C	KMT2C_ENST00000355193.2_Silent_p.C1078C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1078					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACAAGGAGCGCACTGTGTGT	0.438																																						ENST00000355193.2																			0											c.(3232-3234)tgC>tgT		lysine (K)-specific methyltransferase 2C							40.0	37.0	38.0					7																	151921189		2203	4299	6502	SO:0001819	synonymous_variant	58508							g.chr7:151921189G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3234C>T	7.37:g.151921189G>A						KMT2C_ENST00000262189.6_Silent_p.C1078C	p.C1078C							20	3452	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.3234C>T	CCDS5931.1																																																																																				0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	28	0	0	0	1	0	8	28				
SCN1B	6324	broad.mit.edu	37	19	35524561	35524561	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35524561C>T	ENST00000262631.5	+	3	503	c.366C>T	c.(364-366)caC>caT	p.H122H	SCN1B_ENST00000415950.3_Silent_p.H122H|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	122	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGAGTGCCACGTCTACCGCC	0.552																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(364-366)caC>caT		sodium channel, voltage-gated, type I, beta subunit							176.0	137.0	150.0					19																	35524561		2203	4300	6503	SO:0001819	synonymous_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35524561C>T		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.366C>T	19.37:g.35524561C>T						SCN1B_ENST00000415950.3_Silent_p.H122H|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Intron	p.H122H	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	503	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		122			Ig-like C2-type.		Q5TZZ4|Q6TN97	Silent	SNP	ENST00000262631.5	37	c.366C>T	CCDS12441.1																																																																																				0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			27	62	0	0	0	1	0	27	62				
FAM86DP	692099	broad.mit.edu	37	3	75471166	75471166	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:75471166C>T	ENST00000459803.1	-	0	1975					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TTTGCAGATGCTTTTCTCAAA	0.547																																						ENST00000459803.1																			0																																																			0							g.chr3:75471166C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471166C>T								NR_024241.1						0	1975	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.547	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		13	16	0	0	0	1	0	13	16				
POLR1C	9533	broad.mit.edu	37	6	43487456	43487456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43487456G>A	ENST00000372389.3	+	4	350	c.262G>A	c.(262-264)Gct>Act	p.A88T	POLR1C_ENST00000372344.2_Missense_Mutation_p.A88T|YIPF3_ENST00000372422.2_5'Flank|YIPF3_ENST00000506469.1_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.A88T	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	88					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCAACTATGGCTGTGGAGAA	0.507																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(262-264)Gct>Act		polymerase (RNA) I polypeptide C, 30kDa							130.0	130.0	130.0					6																	43487456		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43487456G>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.262G>A	6.37:g.43487456G>A	ENSP00000361465:p.Ala88Thr					POLR1C_ENST00000372344.2_Missense_Mutation_p.A88T|POLR1C_ENST00000304004.3_Missense_Mutation_p.A88T|RP3-337H4.9_ENST00000607571.1_RNA	p.A88T	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		4	350	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		88					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.262G>A	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.580720|5.580720	0.96565|0.96565	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000428025;ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004|ENST00000423780	D;D;D;D|.	0.92545|.	-3.06;-3.06;-3.06;-3.06|.	5.62|5.62	5.62|5.62	0.85841|0.85841	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (2);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase, 30-40kDa subunit, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86772|0.86772	0.6013|0.6013	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.90125|0.90125	0.4202|0.4202	10|5	0.87932|.	D|.	0|.	-17.7614|-17.7614	19.6611|19.6611	0.95871|0.95871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88;88|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	T|D	33;88;2;88;88|87	ENSP00000395401:A33T;ENSP00000361465:A88T;ENSP00000361419:A88T;ENSP00000307212:A88T|.	ENSP00000307212:A88T|.	A|G	+|+	1|2	0|0	POLR1C|POLR1C	43595434|43595434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	9.690000|9.690000	0.98676|0.98676	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.507	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		29	45	0	0	0	1	0	29	45				
TUBGCP4	27229	broad.mit.edu	37	15	43692277	43692277	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:43692277G>A	ENST00000260383.7	+	14	1711	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R485H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	486					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGAGTGTGCGCCGGGTGCAA	0.483																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1453-1455)cGc>cAc		tubulin, gamma complex associated protein 4							93.0	90.0	91.0					15																	43692277		1968	4168	6136	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43692277G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1457G>A	15.37:g.43692277G>A	ENSP00000260383:p.Arg486His					TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R486H	p.R485H	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	14	1694	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	486					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	G	23.7	4.446129	0.84101	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.2	5.2	0.72013	.	0.095172	0.85682	D	0.000000	T	0.72053	0.3413	L	0.52011	1.625	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.58266	0.836;0.747	T	0.74213	-0.3738	9	0.87932	D	0	-14.7942	18.2666	0.90054	0.0:0.0:1.0:0.0	.	486;485	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	485	.	ENSP00000260383:R485H	R	+	2	0	TUBGCP4	41479569	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	9.601000	0.98297	2.861000	0.98227	0.655000	0.94253	CGC		0.483	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		4	21	0	0	0	1	0	4	21				
NF1	4763	broad.mit.edu	37	17	29663474	29663474	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:29663474A>G	ENST00000358273.4	+	41	6513	c.6130A>G	c.(6130-6132)Aaa>Gaa	p.K2044E	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Missense_Mutation_p.K2023E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2044					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGAAATGTGAAATTGGTTTC	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6130-6132)Aaa>Gaa		neurofibromin 1							104.0	90.0	95.0					17																	29663474		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663474A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6130A>G	17.37:g.29663474A>G	ENSP00000351015:p.Lys2044Glu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.K2023E|NF1_ENST00000581113.2_3'UTR	p.K2044E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6513	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2044					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6130A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510509	0.64522	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;T;D	0.92199	-2.99;-0.23;-2.99	5.63	5.63	0.86233	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	N	0.24115	0.695	0.80722	D	1	D;B	0.56035	0.974;0.138	D;B	0.70487	0.969;0.032	D	0.89682	0.3891	10	0.17832	T	0.49	.	15.3068	0.73998	1.0:0.0:0.0:0.0	.	2023;2044	P21359-2;P21359	.;NF1_HUMAN	E	2044;2023;1689	ENSP00000351015:K2044E;ENSP00000348498:K2023E;ENSP00000389907:K1689E	ENSP00000348498:K2023E	K	+	1	0	NF1	26687600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.772000	0.91757	2.257000	0.74773	0.533000	0.62120	AAA		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	72	0	0	0	1	0	7	72				
USH1G	124590	broad.mit.edu	37	17	72916331	72916331	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72916331C>T	ENST00000319642.1	-	2	782	c.600G>A	c.(598-600)ccG>ccA	p.P200P		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	200					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTGAGAGTACGGCAGGTGGC	0.677																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(598-600)ccG>ccA		Usher syndrome 1G (autosomal recessive)							32.0	34.0	33.0					17																	72916331		2175	4247	6422	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916331C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.600G>A	17.37:g.72916331C>T							p.P200P	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	782	-	all_lung(278;0.172)|Lung NSC(278;0.207)		200					Q8N251	Silent	SNP	ENST00000319642.1	37	c.600G>A	CCDS32725.1																																																																																				0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		25	20	0	0	0	1	0	25	20				
WFS1	7466	broad.mit.edu	37	4	6303575	6303575	+	Missense_Mutation	SNP	C	C	T	rs112967046		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:6303575C>T	ENST00000226760.1	+	8	2223	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	WFS1_ENST00000503569.1_Missense_Mutation_p.R685C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	685					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAACATGGCGCGCACCCAGAT	0.637																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CM024441	WFS1	M	rs112967046	c.(2053-2055)Cgc>Tgc		Wolfram syndrome 1 (wolframin)		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		2053,2053	5.5	0.9	4	dbSNP_132	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WFS1	NM_001145853.1,NM_006005.3	180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	685/891,685/891	6303575	2,13004	2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303575C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2053C>T	4.37:g.6303575C>T	ENSP00000226760:p.Arg685Cys					WFS1_ENST00000503569.1_Missense_Mutation_p.R685C	p.R685C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2223	+			685					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2053C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125714	0.77436	2.27E-4	1.16E-4	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.97161	-4.27;-4.27	5.49	5.49	0.81192	.	0.057214	0.64402	D	0.000001	D	0.98131	0.9383	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.99069	1.0833	10	0.87932	D	0	-42.008	18.357	0.90361	0.0:1.0:0.0:0.0	.	685	O76024	WFS1_HUMAN	C	685;685;63	ENSP00000423337:R685C;ENSP00000226760:R685C	ENSP00000226760:R685C	R	+	1	0	WFS1	6354476	1.000000	0.71417	0.911000	0.35937	0.906000	0.53458	7.249000	0.78278	2.589000	0.87451	0.561000	0.74099	CGC		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			10	25	0	0	0	1	0	10	25				
SVEP1	79987	broad.mit.edu	37	9	113192566	113192566	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:113192566G>A	ENST00000401783.2	-	33	5854	c.5518C>T	c.(5518-5520)Cca>Tca	p.P1840S	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1817S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1840	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTACAATATGGTATTAGATGA	0.373																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5518-5520)Cca>Tca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							83.0	77.0	79.0					9																	113192566		1887	4105	5992	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113192566G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5518C>T	9.37:g.113192566G>A	ENSP00000384917:p.Pro1840Ser					SVEP1_ENST00000374469.1_Missense_Mutation_p.P1817S	p.P1840S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			33	5854	-			1840			Sushi 7.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5518C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272203	0.80469	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.76968	-1.06;-1.06	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.101573	0.64402	D	0.000002	D	0.91365	0.7276	H	0.96861	3.895	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	D	0.93257	0.6640	10	0.52906	T	0.07	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	1840	Q4LDE5	SVEP1_HUMAN	S	1840;1817	ENSP00000384917:P1840S;ENSP00000363593:P1817S	ENSP00000363593:P1817S	P	-	1	0	SVEP1	112232387	1.000000	0.71417	0.167000	0.22817	0.918000	0.54935	7.970000	0.88000	2.735000	0.93741	0.655000	0.94253	CCA		0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7				
WDFY3	23001	broad.mit.edu	37	4	85609385	85609385	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85609385C>T	ENST00000295888.4	-	62	9804	c.9397G>A	c.(9397-9399)Gcc>Acc	p.A3133T	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.A3116T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3133	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATGCTGTGGCGCAGGTGACG	0.468																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9346-9348)Gcc>Acc		WD repeat and FYVE domain containing 3							108.0	95.0	100.0					4																	85609385		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85609385C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9397G>A	4.37:g.85609385C>T	ENSP00000295888:p.Ala3133Thr					WDFY3_ENST00000295888.4_Missense_Mutation_p.A3133T	p.A3116T			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	61	9753	-		Hepatocellular(203;0.114)	3133					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9346G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897564	0.52121	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.60548	0.18;0.18	5.93	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190497	0.46758	N	0.000267	T	0.41143	0.1146	N	0.21545	0.675	0.32674	N	0.516422	B	0.21688	0.059	B	0.24269	0.052	T	0.51787	-0.8661	10	0.87932	D	0	.	7.1909	0.25824	0.3498:0.5624:0.0:0.0879	.	3133	Q8IZQ1	WDFY3_HUMAN	T	3116;3133	ENSP00000318466:A3116T;ENSP00000295888:A3133T	ENSP00000295888:A3133T	A	-	1	0	WDFY3	85828409	0.997000	0.39634	0.993000	0.49108	0.589000	0.36550	2.958000	0.49145	1.510000	0.48803	-0.157000	0.13467	GCC		0.468	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	27	0	0	0	1	0	8	27				
ABCB5	340273	broad.mit.edu	37	7	20721257	20721257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:20721257C>T	ENST00000404938.2	+	15	2489	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R168*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	613	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AATGGCAAAACGAGGTCTATA	0.418																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1837-1839)Cga>Tga		ATP-binding cassette, sub-family B (MDR/TAP), member 5							171.0	143.0	153.0					7																	20721257		2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721257C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1837C>T	7.37:g.20721257C>T	ENSP00000384881:p.Arg613*					ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R168*	p.R613*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			15	2489	+			168			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.1837C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	37	6.235343	0.97399	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.67	1.72	0.24424	.	0.533157	0.16215	N	0.224295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.5286	0.27671	0.3139:0.3804:0.3057:0.0	.	.	.	.	X	613;168	.	ENSP00000258738:R168X	R	+	1	2	ABCB5	20687782	0.876000	0.30132	0.200000	0.23457	0.108000	0.19459	1.500000	0.35682	0.387000	0.25024	0.655000	0.94253	CGA		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		32	39	0	0	0	1	0	32	39				
LINC00477	144360	broad.mit.edu	37	12	24737079	24737079	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:24737079C>T	ENST00000483544.1	-	0	23					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											AGACCAGGGGCGAAAGGCCTT	0.542																																						ENST00000483544.1																			0																				85.0	94.0	91.0					12																	24737079		2203	4300	6503			0							g.chr12:24737079C>T	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24737079C>T								NR_029451.2						0	23	-									RNA	SNP	ENST00000483544.1	37																																																																																						0.542	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		17	21	0	0	0	1	0	17	21				
RASGRF1	5923	broad.mit.edu	37	15	79296193	79296193	+	Silent	SNP	G	G	A	rs111385391	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	816					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													G|||	24	0.00479233	0.0	0.0014	5008	,	,		18754	0.0		0.004	False		,,,				2504	0.0194					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2446-2448)ggC>ggT		Ras protein-specific guanine nucleotide-releasing factor 1		G	,,	5,4387	9.9+/-24.2	0,5,2191	57.0	47.0	51.0		2400,2448,96	-9.9	0.0	15	dbSNP_132	51	33,8553	22.8+/-68.1	0,33,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,38,6451	AA,AG,GG		0.3843,0.1138,0.2928	,,	800/1258,816/1274,32/490	79296193	38,12940	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296193G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2448C>T	15.37:g.79296193G>A						RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	p.G816G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2722	-			818					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2448C>T	CCDS10309.1																																																																																				0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		6	25	0	0	0	1	0	6	25				
ADH7	131	broad.mit.edu	37	4	100334311	100334311	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100334311C>T	ENST00000209665.4	-	9	1395	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	ADH7_ENST00000482593.1_Silent_p.T316T|ADH7_ENST00000476959.1_Silent_p.T393T|ADH7_ENST00000437033.2_Silent_p.T373T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	385					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GATCTCAAAACGTCAGGACCG	0.378																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(1117-1119)acG>acA		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						142.0	133.0	136.0					4																	100334311		2203	4300	6503	SO:0001819	synonymous_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100334311C>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.1155G>A	4.37:g.100334311C>T						ADH7_ENST00000482593.1_Silent_p.T316T|ADH7_ENST00000209665.4_Silent_p.T385T|ADH7_ENST00000476959.1_Silent_p.T393T	p.T373T			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	9	1622	-			385					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	ENST00000209665.4	37	c.1119G>A	CCDS34034.1																																																																																				0.378	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		25	76	0	0	0	1	0	25	76				
PTPRD	5789	broad.mit.edu	37	9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.S623F(1)	skin(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1867-1869)tCc>tTc		protein tyrosine phosphatase, receptor type, D							120.0	111.0	114.0					9																	8501014		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8501014G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1868C>T	9.37:g.8501014G>A	ENSP00000370593:p.Ser623Phe	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	p.S623F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2411	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	623			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1868C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067909	0.76301	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112738	0.64402	D	0.000006	D	0.84220	0.5424	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.999	D;D;D	0.77004	0.988;0.913;0.989	D	0.88317	0.2960	9	.	.	.	.	19.9574	0.97228	0.0:0.0:1.0:0.0	.	610;623;623	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	F	623;623;610;610;623	ENSP00000370593:S623F;ENSP00000348812:S623F;ENSP00000353187:S610F;ENSP00000351293:S610F;ENSP00000438164:S623F	.	S	-	2	0	PTPRD	8491014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.715000	0.92844	0.561000	0.74099	TCC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	37	0	0	0	1	0	5	37				
NBPF1	55672	broad.mit.edu	37	1	16902810	16902810	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16902810C>T	ENST00000430580.2	-	19	2958	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	NBPF1_ENST00000287968.8_Missense_Mutation_p.A56T|NBPF1_ENST00000432949.1_Missense_Mutation_p.A149T|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	691						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CACCCCTCAGCCAGCTGTTCT	0.577																																						ENST00000430580.2																			0											c.(2071-2073)Gct>Act		neuroblastoma breakpoint family, member 1							227.0	246.0	239.0					1																	16902810		1510	2703	4213	SO:0001583	missense	55672					cytoplasm		g.chr1:16902810C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2071G>A	1.37:g.16902810C>T	ENSP00000474456:p.Ala691Thr					NBPF1_ENST00000287968.8_Missense_Mutation_p.A56T|NBPF1_ENST00000432949.1_Missense_Mutation_p.A149T	p.A691T	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2958	-			691					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2071G>A																																																																																					0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		43	813	0	0	0	1	0	43	813				
SLC7A11	23657	broad.mit.edu	37	4	139106350	139106350	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:139106350G>A	ENST00000280612.5	-	7	1119	c.840C>T	c.(838-840)ggC>ggT	p.G280G		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	280					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TCAGCACATAGCCAATGGTGA	0.423																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(838-840)ggC>ggT		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						174.0	141.0	152.0					4																	139106350		2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139106350G>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.840C>T	4.37:g.139106350G>A							p.G280G	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			7	1119	-	all_hematologic(180;0.166)		280					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.840C>T	CCDS3742.1																																																																																				0.423	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			41	83	0	0	0	1	0	41	83				
ADCK5	203054	broad.mit.edu	37	8	145616626	145616626	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145616626G>A	ENST00000308860.6	+	7	794	c.750G>A	c.(748-750)cgG>cgA	p.R250R	MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	250	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTGCTGCGGCTCGTTGAGG	0.637																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(748-750)cgG>cgA		aarF domain containing kinase 5							60.0	59.0	60.0					8																	145616626		2202	4300	6502	SO:0001819	synonymous_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616626G>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.750G>A	8.37:g.145616626G>A						ADCK5_ENST00000526231.2_3'UTR	p.R250R	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		7	794	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		250			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	ENST00000308860.6	37	c.750G>A	CCDS34965.1																																																																																				0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		5	12	0	0	0	1	0	5	12				
MVP	9961	broad.mit.edu	37	16	29848061	29848061	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29848061G>A	ENST00000357402.5	+	7	829	c.691G>A	c.(691-693)Gct>Act	p.A231T	MVP_ENST00000452209.2_Missense_Mutation_p.G45D|MVP_ENST00000395353.1_Missense_Mutation_p.A231T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	231					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCACCTCCGGGCTCGGCGGAA	0.617																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(691-693)Gct>Act		major vault protein							36.0	40.0	39.0					16																	29848061		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29848061G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.691G>A	16.37:g.29848061G>A	ENSP00000349977:p.Ala231Thr					MVP_ENST00000395353.1_Missense_Mutation_p.A231T|MVP_ENST00000452209.2_Missense_Mutation_p.G45D	p.A231T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			7	829	+			231					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.691G>A	CCDS10656.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.765650|3.765650	0.69878|0.69878	.|.	.|.	ENSG00000013364|ENSG00000013364	ENST00000357402;ENST00000395353|ENST00000452209	T;T|.	0.49139|.	0.79;0.79|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85894|0.85894	0.5803|0.5803	M|M	0.92784|0.92784	3.345|3.345	0.36552|0.36552	D|D	0.871946|0.871946	D|.	0.76494|.	0.999|.	D|.	0.68353|.	0.957|.	D|D	0.91048|0.91048	0.4876|0.4876	10|6	0.87932|0.87932	D|D	0|0	-8.5873|-8.5873	17.1743|17.1743	0.86837|0.86837	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	231|.	Q14764|.	MVP_HUMAN|.	T|D	231|45	ENSP00000349977:A231T;ENSP00000378760:A231T|.	ENSP00000349977:A231T|ENSP00000387916:G45D	A|G	+|+	1|2	0|0	MVP|MVP	29755562|29755562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.661000|7.661000	0.83786|0.83786	2.717000|2.717000	0.92951|0.92951	0.462000|0.462000	0.41574|0.41574	GCT|GGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		7	14	0	0	0	1	0	7	14				
CXorf22	170063	broad.mit.edu	37	X	35984805	35984805	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:35984805G>A	ENST00000297866.5	+	9	1600	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	512										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTCCATCACGTATATTTAGC	0.383																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1534-1536)Gta>Ata		chromosome X open reading frame 22							142.0	129.0	134.0					X																	35984805		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35984805G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1534G>A	X.37:g.35984805G>A	ENSP00000297866:p.Val512Ile						p.V512I	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			9	1600	+			512					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1534G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.432398	0.00184	.	.	ENSG00000165164	ENST00000297866	T	0.12039	2.72	5.7	-2.86	0.05717	.	0.382393	0.30547	N	0.009386	T	0.03305	0.0096	N	0.01800	-0.715	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38972	-0.9636	10	0.12103	T	0.63	-8.1178	6.6379	0.22893	0.489:0.1283:0.3827:0.0	.	512	Q6ZTR5	CX022_HUMAN	I	512	ENSP00000297866:V512I	ENSP00000297866:V512I	V	+	1	0	CXorf22	35894726	0.303000	0.24463	0.000000	0.03702	0.000000	0.00434	0.836000	0.27545	-0.990000	0.03481	-2.116000	0.00351	GTA		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		34	6	0	0	0	1	0	34	6				
DACH2	117154	broad.mit.edu	37	X	85769338	85769338	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:85769338G>A	ENST00000373125.4	+	3	584	c.584G>A	c.(583-585)cGc>cAc	p.R195H	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373131.1_Missense_Mutation_p.R182H|DACH2_ENST00000508860.1_Missense_Mutation_p.R28H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	195					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R182H(2)|p.R195H(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAAATGCCCGCCTTCTGACC	0.468																																						ENST00000373131.1																			4	Substitution - Missense(4)	p.R182H(2)|p.R195H(2)	large_intestine(2)|endometrium(2)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(544-546)cGc>cAc		dachshund homolog 2 (Drosophila)							54.0	46.0	49.0					X																	85769338		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85769338G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.584G>A	X.37:g.85769338G>A	ENSP00000362217:p.Arg195His					DACH2_ENST00000508860.1_Missense_Mutation_p.R28H|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.R195H	p.R182H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			2	708	+			195					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.545G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349361	0.11182	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.83163	-1.69;-1.68	4.88	4.01	0.46588	.	0.170292	0.41194	D	0.000921	T	0.65165	0.2665	N	0.20766	0.605	0.80722	D	1	P;B;P	0.45902	0.868;0.181;0.735	B;B;B	0.34452	0.09;0.183;0.109	T	0.62053	-0.6935	10	0.12430	T	0.62	.	12.126	0.53917	0.0857:0.0:0.9143:0.0	.	61;182;195	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	H	195;182;195;28;28	ENSP00000362223:R182H;ENSP00000362217:R195H	ENSP00000345134:R195H	R	+	2	0	DACH2	85655994	0.999000	0.42202	0.992000	0.48379	0.987000	0.75469	2.924000	0.48876	0.834000	0.34852	0.506000	0.49869	CGC		0.468	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		10	6	0	0	0	1	0	10	6				
GPR107	57720	broad.mit.edu	37	9	132890973	132890973	+	Missense_Mutation	SNP	C	C	T	rs201905145		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:132890973C>T	ENST00000372406.1	+	19	2146	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C	GPR107_ENST00000372410.3_Missense_Mutation_p.R518C|GPR107_ENST00000347136.6_Missense_Mutation_p.R499C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	547						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GTATAAATTCCGTCCGGCTTC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19145	0.0		0.001	False		,,,				2504	0.0					ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1639-1641)Cgt>Tgt		G protein-coupled receptor 107							169.0	170.0	170.0					9																	132890973		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr9:132890973C>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1639C>T	9.37:g.132890973C>T	ENSP00000361483:p.Arg547Cys					GPR107_ENST00000347136.6_Missense_Mutation_p.R499C|GPR107_ENST00000372410.3_Missense_Mutation_p.R518C	p.R547C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			19	2146	+		Ovarian(14;0.000531)	547					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1639C>T	CCDS48041.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.9	4.869479	0.91587	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.36157	1.46;1.28;1.27	5.77	5.77	0.91146	.	0.067064	0.64402	D	0.000009	T	0.67711	0.2922	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.74674	0.855;0.984;0.855	T	0.73379	-0.4001	10	0.87932	D	0	-6.5263	18.5764	0.91157	0.0:1.0:0.0:0.0	.	518;547;499	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	C	547;499;518	ENSP00000361483:R547C;ENSP00000336988:R499C;ENSP00000361487:R518C	ENSP00000336988:R499C	R	+	1	0	GPR107	131930794	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.546000	0.53656	2.724000	0.93272	0.561000	0.74099	CGT		0.443	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			15	130	0	0	0	1	0	15	130				
UGT2B4	7363	broad.mit.edu	37	4	70361411	70361411	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:70361411C>T	ENST00000305107.6	-	1	215	c.169G>A	c.(169-171)Gca>Aca	p.A57T	UGT2B4_ENST00000512583.1_Missense_Mutation_p.A57T|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	57					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GCTGAAGATGCCAATACAGTC	0.408																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(169-171)Gca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B4							104.0	108.0	107.0					4																	70361411		2201	4300	6501	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361411C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.169G>A	4.37:g.70361411C>T	ENSP00000305221:p.Ala57Thr					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.A57T|UGT2B4_ENST00000381096.3_Intron	p.A57T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	215	-			57					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.169G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.531347	0.00951	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.58652	0.32;0.32	2.41	1.21	0.21127	.	0.427258	0.18758	N	0.131963	T	0.27134	0.0665	N	0.05177	-0.1	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.18871	0.002;0.023	T	0.16988	-1.0384	10	0.11182	T	0.66	.	4.3265	0.11043	0.0:0.3689:0.0:0.6311	.	57;57	G5E9X8;P06133	.;UD2B4_HUMAN	T	57	ENSP00000421290:A57T;ENSP00000305221:A57T	ENSP00000305221:A57T	A	-	1	0	UGT2B4	70396000	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.673000	0.05239	0.190000	0.20209	0.306000	0.20318	GCA		0.408	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		29	53	0	0	0	1	0	29	53				
GRTP1	79774	broad.mit.edu	37	13	114009752	114009752	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114009752G>A	ENST00000375431.4	-	3	300	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375430.4_Missense_Mutation_p.R76C|GRTP1_ENST00000326039.3_5'Flank|GRTP1-AS1_ENST00000419199.1_RNA	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	76	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ATCCAGACGCGGGCACGGTGC	0.662																																						ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(226-228)Cgc>Tgc		growth hormone regulated TBC protein 1							49.0	46.0	47.0					13																	114009752		2203	4300	6503	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:114009752G>A	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.226C>T	13.37:g.114009752G>A	ENSP00000364580:p.Arg76Cys					GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.R76C	p.R76C			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	272	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	76			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.226C>T	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601676	0.66445	.	.	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.12255	2.7;2.7	4.5	3.56	0.40772	Rab-GAP/TBC domain (4);	0.885835	0.09589	U	0.781756	T	0.35068	0.0919	M	0.79475	2.455	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.809	T	0.08371	-1.0725	10	0.56958	D	0.05	.	11.5796	0.50883	0.1032:0.0:0.8968:0.0	.	76;76	B9A6K2;Q5TC63	.;GRTP1_HUMAN	C	76	ENSP00000364580:R76C;ENSP00000364579:R76C	ENSP00000364579:R76C	R	-	1	0	GRTP1	113057753	0.175000	0.23083	0.960000	0.40013	0.988000	0.76386	1.423000	0.34837	2.332000	0.79248	0.591000	0.81541	CGC		0.662	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		10	16	0	0	0	1	0	10	16				
DNAH1	25981	broad.mit.edu	37	3	52426962	52426962	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52426962C>T	ENST00000420323.2	+	65	10656	c.10395C>T	c.(10393-10395)aaC>aaT	p.N3465N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3530	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGGCCAACGTGGACCCCA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10393-10395)aaC>aaT		dynein, axonemal, heavy chain 1							184.0	198.0	193.0					3																	52426962		2090	4219	6309	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52426962C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10395C>T	3.37:g.52426962C>T							p.N3465N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	65	10656	+			3530			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10395C>T	CCDS46842.1																																																																																				0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		14	106	0	0	0	1	0	14	106				
TRAP1	10131	broad.mit.edu	37	16	3712941	3712941	+	Missense_Mutation	SNP	G	G	A	rs112776374		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3712941G>A	ENST00000246957.5	-	15	1824	c.1736C>T	c.(1735-1737)aCg>aTg	p.T579M	TRAP1_ENST00000575671.1_Missense_Mutation_p.T370M|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.T526M|DNASE1_ENST00000414110.2_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	579					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGCTCCTCCGTCTCCTTCTC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0					ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1108-1110)aCg>aTg		TNF receptor-associated protein 1		G	MET/THR	4,4390	8.1+/-20.4	0,4,2193	101.0	74.0	83.0		1736	3.5	0.6	16	dbSNP_132	83	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TRAP1	NM_016292.2	81	0,6,6491	AA,AG,GG		0.0233,0.091,0.0462	benign	579/705	3712941	6,12988	2197	4300	6497	SO:0001583	missense	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3712941G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1736C>T	16.37:g.3712941G>A	ENSP00000246957:p.Thr579Met					DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000246957.5_Missense_Mutation_p.T579M|TRAP1_ENST00000538171.1_Missense_Mutation_p.T526M|DNASE1_ENST00000575152.1_3'UTR	p.T370M			Q12931	TRAP1_HUMAN			10	1838	-		Ovarian(90;0.0261)	579					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	ENST00000246957.5	37	c.1109C>T	CCDS10508.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.52	1.372271	0.24857	9.1E-4	2.33E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.09163	3.01;3.01	5.45	3.51	0.40186	.	0.175452	0.49916	N	0.000125	T	0.05960	0.0155	N	0.05383	-0.06	0.36124	D	0.84567	B;B	0.11235	0.003;0.004	B;B	0.17098	0.01;0.017	T	0.29671	-1.0004	10	0.31617	T	0.26	-14.5433	11.2957	0.49277	0.1473:0.0:0.8527:0.0	.	526;579	F5H897;Q12931	.;TRAP1_HUMAN	M	579;526	ENSP00000246957:T579M;ENSP00000442070:T526M	ENSP00000246957:T579M	T	-	2	0	TRAP1	3652942	0.998000	0.40836	0.589000	0.28718	0.252000	0.25951	4.490000	0.60319	0.688000	0.31529	-0.143000	0.13931	ACG		0.637	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		12	10	0	0	0	1	0	12	10				
CCDC66	285331	broad.mit.edu	37	3	56650074	56650074	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:56650074G>A	ENST00000394672.3	+	13	1906	c.1836G>A	c.(1834-1836)gtG>gtA	p.V612V	CCDC66_ENST00000436465.2_Silent_p.V612V|CCDC66_ENST00000326595.7_Silent_p.V578V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	612					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATACTGGTGTGCAAACAGGTA	0.279																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1834-1836)gtG>gtA		coiled-coil domain containing 66							85.0	97.0	93.0					3																	56650074		2203	4294	6497	SO:0001819	synonymous_variant	285331							g.chr3:56650074G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1836G>A	3.37:g.56650074G>A						CCDC66_ENST00000326595.7_Silent_p.V578V|CCDC66_ENST00000436465.2_Silent_p.V612V	p.V612V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	13	1906	+			612					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.1836G>A	CCDS46852.1																																																																																				0.279	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		30	42	0	0	0	1	0	30	42				
SAP30BP	29115	broad.mit.edu	37	17	73695894	73695894	+	Silent	SNP	G	G	A	rs373834045		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73695894G>A	ENST00000584667.1	+	5	596	c.339G>A	c.(337-339)tcG>tcA	p.S113S	SAP30BP_ENST00000355423.3_Silent_p.S97S|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACATGTCGCCTGATGAAA	0.453																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(337-339)tcG>tcA		SAP30 binding protein		G		0,4406		0,0,2203	122.0	136.0	131.0		339	-11.2	0.4	17		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SAP30BP	NM_013260.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/309	73695894	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695894G>A	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.339G>A	17.37:g.73695894G>A						SAP30BP_ENST00000355423.3_Silent_p.S97S|SAP30BP_ENST00000579864.1_3'UTR	p.S113S	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	596	+	all_cancers(13;6.42e-08)		113						Silent	SNP	ENST00000584667.1	37	c.339G>A	CCDS11726.1																																																																																				0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		42	78	0	0	0	1	0	42	78				
IL18RAP	8807	broad.mit.edu	37	2	103061730	103061730	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:103061730G>A	ENST00000264260.2	+	9	1591	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	IL18RAP_ENST00000409369.1_Silent_p.K192K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	334	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTCGCAGGAAGTTTGTTTGCT	0.423																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1000-1002)aaG>aaA		interleukin 18 receptor accessory protein							119.0	110.0	113.0					2																	103061730		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061730G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1002G>A	2.37:g.103061730G>A						IL18RAP_ENST00000409369.1_Silent_p.K192K	p.K334K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			9	1591	+			334			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1002G>A	CCDS2061.1																																																																																				0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		13	33	0	0	0	1	0	13	33				
DNAH9	1770	broad.mit.edu	37	17	11656223	11656223	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11656223C>T	ENST00000262442.4	+	33	6752	c.6684C>T	c.(6682-6684)ggC>ggT	p.G2228G	DNAH9_ENST00000454412.2_Silent_p.G2228G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2228	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGGATGGCGACATAGATC	0.433																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6682-6684)ggC>ggT		dynein, axonemal, heavy chain 9							135.0	118.0	123.0					17																	11656223		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11656223C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6684C>T	17.37:g.11656223C>T						DNAH9_ENST00000454412.2_Silent_p.G2228G	p.G2228G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	33	6752	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2228			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.6684C>T	CCDS11160.1																																																																																				0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		21	28	0	0	0	1	0	21	28				
APOA5	116519	broad.mit.edu	37	11	116661762	116661762	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:116661762C>A	ENST00000227665.4	-	3	217	c.183G>T	c.(181-183)gaG>gaT	p.E61D	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.E61D			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	61					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAGGTCTTGCTCAAGGCTGT	0.587																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(181-183)gaG>gaT		apolipoprotein A-V							16.0	18.0	17.0					11																	116661762		2137	4215	6352	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661762C>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.183G>T	11.37:g.116661762C>A	ENSP00000227665:p.Glu61Asp					APOA5_ENST00000227665.4_Missense_Mutation_p.E61D	p.E61D	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	255	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	61					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.183G>T	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097093	0.56075	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	T;T;D	0.84873	-0.88;-0.88;-1.91	4.92	-1.0	0.10196	Apolipoprotein/apolipophorin (1);	0.107584	0.41194	D	0.000939	D	0.85647	0.5745	M	0.78223	2.4	0.27008	N	0.96476	P;P	0.51240	0.943;0.856	P;P	0.54401	0.751;0.652	T	0.77453	-0.2582	10	0.13470	T	0.59	-26.6569	8.3442	0.32263	0.0:0.3274:0.0:0.6726	.	58;61	B0YIW1;Q6Q788	.;APOA5_HUMAN	D	61	ENSP00000227665:E61D;ENSP00000445002:E61D;ENSP00000399701:E61D	ENSP00000227665:E61D	E	-	3	2	APOA5	116166972	0.654000	0.27367	0.994000	0.49952	0.990000	0.78478	-0.025000	0.12413	-0.037000	0.13646	0.650000	0.86243	GAG		0.587	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			9	10	1	0	0.000274275	1	0.000279654	9	10				
CYLD	1540	broad.mit.edu	37	16	50828294	50828294	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50828294G>A	ENST00000427738.3	+	17	2846	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CYLD_ENST00000566206.1_Missense_Mutation_p.D878N|CYLD_ENST00000540145.1_Missense_Mutation_p.D881N|CYLD_ENST00000398568.2_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D881N|CYLD_ENST00000564326.1_Missense_Mutation_p.D878N|CYLD_ENST00000569418.1_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D696N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	881	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GTATGGGAAGGACGATTCTGC	0.493			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(2641-2643)Gac>Aac		cylindromatosis (turban tumor syndrome)							199.0	199.0	199.0					16																	50828294		1984	4156	6140	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50828294G>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2641G>A	16.37:g.50828294G>A	ENSP00000392025:p.Asp881Asn					CYLD_ENST00000569418.1_Missense_Mutation_p.D878N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.D696N|CYLD_ENST00000566206.1_Missense_Mutation_p.D878N|CYLD_ENST00000427738.3_Missense_Mutation_p.D881N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.D878N|CYLD_ENST00000311559.9_Missense_Mutation_p.D881N|CYLD_ENST00000564326.1_Missense_Mutation_p.D878N	p.D881N			Q9NQC7	CYLD_HUMAN			18	3056	+		all_cancers(37;0.0156)	881					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2641G>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458122	0.84317	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.44881	0.91;0.91;0.91	5.68	5.68	0.88126	.	0.088182	0.85682	D	0.000000	T	0.39436	0.1078	N	0.24115	0.695	0.80722	D	1	P;P	0.47191	0.891;0.867	P;B	0.45753	0.492;0.359	T	0.12167	-1.0558	10	0.41790	T	0.15	-32.7773	20.1615	0.98135	0.0:0.0:1.0:0.0	.	878;878	A8KAB0;Q9NQC7-2	.;.	N	881;881;878;878	ENSP00000445447:D881N;ENSP00000308928:D881N;ENSP00000381574:D878N	ENSP00000308928:D881N	D	+	1	0	CYLD	49385795	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	GAC		0.493	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			20	117	0	0	0	1	0	20	117				
CCDC97	90324	broad.mit.edu	37	19	41822696	41822696	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41822696A>G	ENST00000269967.3	+	2	576	c.454A>G	c.(454-456)Acc>Gcc	p.T152A		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	152										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCCTGCGTACCCGCCTGCG	0.682																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(454-456)Acc>Gcc		coiled-coil domain containing 97							25.0	28.0	27.0					19																	41822696		2202	4294	6496	SO:0001583	missense	90324							g.chr19:41822696A>G	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.454A>G	19.37:g.41822696A>G	ENSP00000269967:p.Thr152Ala						p.T152A	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			2	576	+			152					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.454A>G	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753238	0.69648	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.44542	1.39	0.47341	D	0.999393	D	0.61080	0.989	P	0.49140	0.601	T	0.40365	-0.9567	9	0.15499	T	0.54	-3.5863	12.9979	0.58657	1.0:0.0:0.0:0.0	.	152	Q96F63	CCD97_HUMAN	A	152	.	ENSP00000269967:T152A	T	+	1	0	CCDC97	46514536	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.742000	0.74843	1.718000	0.51419	0.455000	0.32223	ACC		0.682	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		16	29	0	0	0	1	0	16	29				
SLC27A1	376497	broad.mit.edu	37	19	17599665	17599665	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17599665G>A	ENST00000252595.7	+	5	900	c.803G>A	c.(802-804)cGc>cAc	p.R268H	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R268H|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R89H|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	268	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGTACTACCGCATGGCAGCC	0.657																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(802-804)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 1							29.0	28.0	28.0					19																	17599665		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17599665G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.803G>A	19.37:g.17599665G>A	ENSP00000252595:p.Arg268His					SLC27A1_ENST00000442725.1_Missense_Mutation_p.R268H|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R89H	p.R268H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			5	900	+			268			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.803G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314358	0.81358	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.40756	1.02;1.02	4.38	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.119927	0.56097	D	0.000034	T	0.60090	0.2242	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.71414	0.945;0.973	T	0.58440	-0.7636	10	0.15499	T	0.54	.	14.4309	0.67249	0.0:0.0:1.0:0.0	.	89;268	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	268;268;130	ENSP00000413424:R268H;ENSP00000252595:R268H	ENSP00000252595:R268H	R	+	2	0	SLC27A1	17460665	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.452000	0.80683	1.995000	0.58328	0.561000	0.74099	CGC		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		5	12	0	0	0	1	0	5	12				
CEACAM16	388551	broad.mit.edu	37	19	45207440	45207440	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:45207440C>T	ENST00000405314.2	+	3	632	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CEACAM16_ENST00000587331.1_Silent_p.L179L|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	179	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCGCCTGGGCCTGTCCCCTGA	0.706																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(535-537)Ctg>Ttg		carcinoembryonic antigen-related cell adhesion molecule 16							12.0	16.0	15.0					19																	45207440		1940	4098	6038	SO:0001819	synonymous_variant	388551							g.chr19:45207440C>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.535C>T	19.37:g.45207440C>T						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.L179L	p.L179L	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			4	750	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	179					A7LI12	Silent	SNP	ENST00000405314.2	37	c.535C>T	CCDS54278.1																																																																																				0.706	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		3	3	0	0	0	1	0	3	3				
MYO6	4646	broad.mit.edu	37	6	76538323	76538323	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76538323G>T	ENST00000369977.3	+	4	393	c.254G>T	c.(253-255)aGa>aTa	p.R85I	MYO6_ENST00000369985.4_Missense_Mutation_p.R85I|MYO6_ENST00000369981.3_Missense_Mutation_p.R85I|MYO6_ENST00000369975.1_Missense_Mutation_p.R85I	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	85	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGTAAAGACAGAATTTATGTA	0.289																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(253-255)aGa>aTa		myosin VI							87.0	96.0	93.0					6																	76538323		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76538323G>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.254G>T	6.37:g.76538323G>T	ENSP00000358994:p.Arg85Ile					MYO6_ENST00000369975.1_Missense_Mutation_p.R85I|MYO6_ENST00000369985.4_Missense_Mutation_p.R85I|MYO6_ENST00000369977.3_Missense_Mutation_p.R85I	p.R85I			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	4	533	+		all_hematologic(105;0.189)	85			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.254G>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089622	0.55968	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.51	5.51	0.81932	.	0.050367	0.85682	D	0.000000	T	0.32010	0.0815	N	0.02916	-0.46	0.80722	D	1	B;B	0.33120	0.141;0.398	B;B	0.32149	0.016;0.141	T	0.44772	-0.9306	10	0.41790	T	0.15	.	12.7194	0.57134	0.0751:0.0:0.9249:0.0	.	85;85	Q9UM54-2;Q9UM54-1	.;.	I	85	ENSP00000358998:R85I;ENSP00000359002:R85I;ENSP00000358994:R85I;ENSP00000358992:R85I	ENSP00000358992:R85I	R	+	2	0	MYO6	76595043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.848000	0.75409	2.594000	0.87642	0.563000	0.77884	AGA		0.289	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		33	57	1	0	4.4194e-11	1	4.74656e-11	33	57				
OPCML	4978	broad.mit.edu	37	11	132398972	132398972	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:132398972C>A	ENST00000331898.7	-	3	1087	c.509G>T	c.(508-510)aGa>aTa	p.R170I	OPCML_ENST00000374778.4_Missense_Mutation_p.R129I|OPCML_ENST00000541867.1_Missense_Mutation_p.R170I|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R163I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	170	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.R170K(1)|p.R163K(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGACAGGTGTCTCCATGTCAC	0.483																																						ENST00000331898.7																			2	Substitution - Missense(2)	p.R170K(1)|p.R163K(1)	lung(2)	endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(508-510)aGa>aTa		opioid binding protein/cell adhesion molecule-like							137.0	101.0	113.0					11																	132398972		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132398972C>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.509G>T	11.37:g.132398972C>A	ENSP00000330862:p.Arg170Ile					OPCML_ENST00000524381.1_Missense_Mutation_p.R163I|OPCML_ENST00000541867.1_Missense_Mutation_p.R170I|OPCML_ENST00000374778.4_Missense_Mutation_p.R129I|OPCML_ENST00000529038.1_5'UTR	p.R170I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	3	1087	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	170			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.509G>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262525	0.80358	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.38887	1.32;1.32;1.11;1.11	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102861	0.64402	D	0.000004	T	0.62720	0.2451	M	0.74258	2.255	0.58432	D	0.999994	D;P;P;D	0.60160	0.962;0.927;0.909;0.987	P;P;P;D	0.67900	0.853;0.905;0.853;0.954	T	0.65207	-0.6224	10	0.87932	D	0	-16.3492	13.0611	0.59008	0.0:0.9231:0.0:0.0769	.	170;163;170;170	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	I	170;163;129;137;170	ENSP00000330862:R170I;ENSP00000434750:R163I;ENSP00000363910:R129I;ENSP00000445496:R170I	ENSP00000330862:R170I	R	-	2	0	OPCML	131904182	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.085000	0.50151	2.800000	0.96347	0.455000	0.32223	AGA		0.483	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		8	26	1	0	5.18039e-06	1	5.37127e-06	8	26				
FCRL5	83416	broad.mit.edu	37	1	157509011	157509011	+	Missense_Mutation	SNP	G	G	A	rs149262706	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157509011G>A	ENST00000361835.3	-	7	1424	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	FCRL5_ENST00000368189.3_Missense_Mutation_p.R423C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R423C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R423C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R338C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	423	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCGACCTACGCTCCAGGGCA	0.552																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1267-1269)Cgt>Tgt		Fc receptor-like 5		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	79.0	69.0	72.0		1267,1267	0.8	0.0	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	423/999,423/978	157509011	1,13005	2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509011G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1267C>T	1.37:g.157509011G>A	ENSP00000354691:p.Arg423Cys					FCRL5_ENST00000368189.3_Missense_Mutation_p.R423C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R338C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R423C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R423C	p.R423C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1424	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	423			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1267C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963842	0.34659	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	3.17	0.754	0.18410	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	6.421730	0.00397	N	0.000056	T	0.14270	0.0345	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.992;0.995;0.996;0.995;0.999	P;P;P;P;P;P	0.61658	0.821;0.599;0.701;0.892;0.663;0.761	T	0.04333	-1.0959	10	0.66056	D	0.02	.	3.4867	0.07622	0.0:0.1311:0.235:0.6339	.	454;338;423;423;423;423	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	423;423;423;338;423	ENSP00000354691:R423C;ENSP00000349434:R423C;ENSP00000357173:R423C;ENSP00000357174:R338C;ENSP00000357172:R423C	ENSP00000349434:R423C	R	-	1	0	FCRL5	155775635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.356000	0.07661	0.034000	0.15491	-0.546000	0.04227	CGT		0.552	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		10	4	0	0	0	1	0	10	4				
SARAF	51669	broad.mit.edu	37	8	29923592	29923592	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:29923592C>T	ENST00000256255.6	-	5	1163	c.906G>A	c.(904-906)acG>acA	p.T302T	TMEM66_ENST00000545648.1_Silent_p.T130T|TMEM66_ENST00000536273.1_Silent_p.T130T	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		302					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CCCTATTCCACGTGCCAGGGT	0.488																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(904-906)acG>acA		transmembrane protein 66							130.0	124.0	126.0					8																	29923592		2203	4300	6503	SO:0001819	synonymous_variant	51669					integral to membrane		g.chr8:29923592C>T																												ENST00000256255.6:c.906G>A	8.37:g.29923592C>T						TMEM66_ENST00000545648.1_Silent_p.T130T|TMEM66_ENST00000536273.1_Silent_p.T130T	p.T302T	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1163	-			302					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Silent	SNP	ENST00000256255.6	37	c.906G>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.902|3.902	-0.021745|-0.021745	0.07634|0.07634	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000521265|ENST00000518296	.|.	.|.	.|.	5.78|5.78	-11.6|-11.6	0.00059|0.00059	.|.	.|.	.|.	.|.	.|.	T|T	0.39963|0.39963	0.1098|0.1098	.|.	.|.	.|.	0.34097|0.34097	D|D	0.661448|0.661448	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61113|0.61113	-0.7128|-0.7128	4|4	.|.	.|.	.|.	-7.387|-7.387	9.4491|9.4491	0.38714|0.38714	0.0598:0.4798:0.381:0.0794|0.0598:0.4798:0.381:0.0794	.|.	.|.	.|.	.|.	H|M	302|172	.|.	.|.	R|V	-|-	2|1	0|0	TMEM66|TMEM66	30043134|30043134	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.763000|-2.763000	0.00784|0.00784	-5.238000|-5.238000	0.00018|0.00018	-3.480000|-3.480000	0.00034|0.00034	CGT|GTG		0.488	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			22	38	0	0	0	1	0	22	38				
NLRP7	199713	broad.mit.edu	37	19	55447772	55447772	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55447772C>T	ENST00000590030.1	-	5	2197	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	NLRP7_ENST00000588756.1_Silent_p.A719A|NLRP7_ENST00000448121.2_Silent_p.A691A|NLRP7_ENST00000340844.2_Silent_p.A719A|NLRP7_ENST00000328092.5_Silent_p.A691A|NLRP7_ENST00000446217.1_Silent_p.A747A|NLRP7_ENST00000592784.1_Silent_p.A719A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	719							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGTCCCGGTACGCGGTGTCAG	0.493																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2239-2241)gcG>gcA		NLR family, pyrin domain containing 7							94.0	81.0	85.0					19																	55447772		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55447772C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2157G>A	19.37:g.55447772C>T						NLRP7_ENST00000328092.5_Silent_p.A691A|NLRP7_ENST00000448121.2_Silent_p.A691A|NLRP7_ENST00000590030.1_Silent_p.A719A|NLRP7_ENST00000340844.2_Silent_p.A719A|NLRP7_ENST00000592784.1_Silent_p.A719A|NLRP7_ENST00000588756.1_Silent_p.A719A	p.A747A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2643	-			719					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.2241G>A	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		4	16	0	0	0	1	0	4	16				
C22orf42	150297	broad.mit.edu	37	22	32546394	32546394	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:32546394C>G	ENST00000382097.3	-	7	638	c.566G>C	c.(565-567)aGc>aCc	p.S189T	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	189										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GACAGATAGGCTTTCACTGAG	0.443																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(565-567)aGc>aCc		chromosome 22 open reading frame 42							145.0	130.0	135.0					22																	32546394		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546394C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.566G>C	22.37:g.32546394C>G	ENSP00000371529:p.Ser189Thr						p.S189T	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			7	638	-			189					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.566G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	c	1.954	-0.440400	0.04636	.	.	ENSG00000205856	ENST00000382097	T	0.24350	1.86	0.541	0.541	0.17168	.	.	.	.	.	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.28667	0.219	B	0.39217	0.294	T	0.40021	-0.9585	8	0.44086	T	0.13	.	.	.	.	.	189	Q6IC83	CV042_HUMAN	T	189	ENSP00000371529:S189T	ENSP00000371529:S189T	S	-	2	0	C22orf42	30876394	0.016000	0.18221	0.001000	0.08648	0.134000	0.20937	0.358000	0.20216	0.602000	0.29896	0.089000	0.15464	AGC		0.443	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		15	82	0	0	0	1	0	15	82				
PRIM2	5558	broad.mit.edu	37	6	57246965	57246965	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:57246965C>T	ENST00000607273.1	+	7	779	c.692C>T	c.(691-693)gCa>gTa	p.A231V	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	231					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGGCTTTGGCAGTGAGTATT	0.368																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.e7+1		primase, DNA, polypeptide 2 (58kDa)							140.0	124.0	129.0					6																	57246965		1911	4133	6044	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57246965C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.693+1C>T	6.37:g.57246965C>T						PRIM2_ENST00000389488.2_3'UTR	p.A231_splice	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	7	779	+			231					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000607273.1	37	c.693_splice																																																																																					0.368	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	Missense_Mutation	6	45	0	0	0	1	0	6	45				
RAB39A	54734	broad.mit.edu	37	11	107832960	107832960	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107832960G>A	ENST00000320578.2	+	2	582	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	172					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CAATCTTGACGAGAGACATAT	0.383																																						ENST00000320578.2																			0											c.(514-516)acG>acA		RAB39A, member RAS oncogene family							79.0	81.0	80.0					11																	107832960		2201	4298	6499	SO:0001819	synonymous_variant	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832960G>A	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.516G>A	11.37:g.107832960G>A							p.T172T	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	582	+			172					A8KAA4|Q8N6W2	Silent	SNP	ENST00000320578.2	37	c.516G>A	CCDS8338.1																																																																																				0.383	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		20	27	0	0	0	1	0	20	27				
TRMU	55687	broad.mit.edu	37	22	46752742	46752742	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:46752742G>A	ENST00000290846.4	+	11	1445	c.1105G>A	c.(1105-1107)Gct>Act	p.A369T	TRMU_ENST00000381019.3_Missense_Mutation_p.C341Y	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	369					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCTACAGTTTGCTGTGTTCTA	0.672																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(1105-1107)Gct>Act		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							77.0	78.0	78.0					22																	46752742		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46752742G>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1105G>A	22.37:g.46752742G>A	ENSP00000290846:p.Ala369Thr					TRMU_ENST00000381019.3_Missense_Mutation_p.C341Y	p.A369T	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	11	1445	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	369					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.1105G>A	CCDS14075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.932953|3.932953	0.73442|0.73442	.|.	.|.	ENSG00000100416|ENSG00000100416	ENST00000290846|ENST00000381019	T|T	0.73575|0.71461	-0.76|-0.57	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84611|0.84611	0.5510|0.5510	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D;D|D;P	0.89917|0.57899	1.0;1.0|0.981;0.875	D;D|P;B	0.91635|0.49953	0.999;0.992|0.627;0.424	D|D	0.90774|0.90774	0.4674|0.4674	10|9	0.87932|0.87932	D|D	0|0	-17.0469|-17.0469	16.7599|16.7599	0.85509|0.85509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	215;369|187;341	O75648-4;O75648|O75648-3;O75648-2	.;MTU1_HUMAN|.;.	T|Y	369|341	ENSP00000290846:A369T|ENSP00000370407:C341Y	ENSP00000290846:A369T|ENSP00000370407:C341Y	A|C	+|+	1|2	0|0	TRMU|TRMU	45131406|45131406	1.000000|1.000000	0.71417|0.71417	0.548000|0.548000	0.28192|0.28192	0.057000|0.057000	0.15508|0.15508	8.879000|8.879000	0.92398|0.92398	2.122000|2.122000	0.65172|0.65172	0.491000|0.491000	0.48974|0.48974	GCT|TGC		0.672	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		29	55	0	0	0	1	0	29	55				
C1QB	713	broad.mit.edu	37	1	22987584	22987584	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22987584G>A	ENST00000314933.6	+	3	599	c.467G>A	c.(466-468)cGc>cAc	p.R156H	C1QB_ENST00000509305.1_Missense_Mutation_p.R154H	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	156	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TATGAGCCCCGCAGTGGCAAG	0.592																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(460-462)cGc>cAc		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						117.0	106.0	110.0					1																	22987584		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987584G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.467G>A	1.37:g.22987584G>A	ENSP00000313967:p.Arg156His					C1QB_ENST00000314933.6_Missense_Mutation_p.R156H	p.R154H			P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	807	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	156			C1q.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.461G>A	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221182	0.39201	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.75477	-0.94;-0.94;-0.94	4.67	4.67	0.58626	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.124054	0.51477	D	0.000081	T	0.69196	0.3084	L	0.52823	1.66	0.09310	N	1	B	0.26547	0.152	B	0.19946	0.027	T	0.58429	-0.7638	9	.	.	.	.	16.6972	0.85339	0.0:0.0:1.0:0.0	.	156	P02746	C1QB_HUMAN	H	154;154;156	ENSP00000423689:R154H;ENSP00000404606:R154H;ENSP00000313967:R156H	.	R	+	2	0	C1QB	22860171	0.007000	0.16637	0.040000	0.18447	0.927000	0.56198	1.933000	0.40153	2.596000	0.87737	0.561000	0.74099	CGC		0.592	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		12	46	0	0	0	1	0	12	46				
EGFR	1956	broad.mit.edu	37	7	55221778	55221778	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:55221778G>A	ENST00000275493.2	+	7	999	c.822G>A	c.(820-822)acG>acA	p.T274T	EGFR_ENST00000454757.2_Silent_p.T221T|EGFR_ENST00000344576.2_Silent_p.T274T|EGFR_ENST00000342916.3_Silent_p.T274T|EGFR_ENST00000455089.1_Silent_p.T229T|EGFR_ENST00000442591.1_Silent_p.T274T|EGFR_ENST00000420316.2_Silent_p.T274T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	274			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACCCCACCACGTACCAGATGG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(820-822)acG>acA		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						197.0	156.0	170.0					7																	55221778		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221778G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.822G>A	7.37:g.55221778G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Silent_p.T221T|EGFR_ENST00000420316.2_Silent_p.T274T|EGFR_ENST00000442591.1_Silent_p.T274T|EGFR_ENST00000455089.1_Silent_p.T229T|EGFR_ENST00000344576.2_Silent_p.T274T|EGFR_ENST00000342916.3_Silent_p.T274T	p.T274T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	999	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		274					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.822G>A	CCDS5514.1																																																																																				0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		22	22	0	0	0	1	0	22	22				
MYO15A	51168	broad.mit.edu	37	17	18059601	18059601	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18059601C>T	ENST00000205890.5	+	48	8890	c.8552C>T	c.(8551-8553)gCg>gTg	p.A2851V	MYO15A_ENST00000418233.3_Missense_Mutation_p.A115V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2851	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGCCCGAGCGCACCAGGTC	0.547																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8551-8553)gCg>gTg		myosin XVA							94.0	94.0	94.0					17																	18059601		2032	4185	6217	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18059601C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8552C>T	17.37:g.18059601C>T	ENSP00000205890:p.Ala2851Val					MYO15A_ENST00000418233.3_Missense_Mutation_p.A115V	p.A2851V	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			48	8890	+	all_neural(463;0.228)		2851			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8552C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109881	0.56398	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.95205	-3.64	4.41	4.41	0.53225	.	.	.	.	.	D	0.96839	0.8968	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.974;0.992;0.945	D	0.97612	1.0130	9	0.87932	D	0	.	15.9789	0.80091	0.0:1.0:0.0:0.0	.	50;115;2851	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	V	2851;50	ENSP00000205890:A2851V	ENSP00000205890:A2851V	A	+	2	0	MYO15A	18000326	1.000000	0.71417	0.674000	0.29902	0.878000	0.50629	7.433000	0.80362	2.005000	0.58758	0.462000	0.41574	GCG		0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	29	0	0	0	1	0	12	29				
CARF	79800	broad.mit.edu	37	2	203839189	203839189	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203839189G>A	ENST00000402905.3	+	12	1785	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	CARF_ENST00000545253.1_Silent_p.T400T|CARF_ENST00000414439.1_Silent_p.T386T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Silent_p.T488T|CARF_ENST00000428585.1_Silent_p.T412T|CARF_ENST00000320443.8_Silent_p.T488T|CARF_ENST00000545262.1_Silent_p.T412T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	488					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T488T(1)									ATGGAGATACGGTATATAACT	0.308																																						ENST00000320443.8																			1	Substitution - coding silent(1)	p.T488T(1)	lung(1)								c.(1462-1464)acG>acA		calcium responsive transcription factor							86.0	86.0	86.0					2																	203839189		1826	4069	5895	SO:0001819	synonymous_variant	79800							g.chr2:203839189G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1464G>A	2.37:g.203839189G>A						WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Silent_p.T488T|CARF_ENST00000428585.1_Silent_p.T412T|CARF_ENST00000402905.2_Silent_p.T488T|CARF_ENST00000414439.1_Silent_p.T386T|CARF_ENST00000545253.1_Silent_p.T400T|CARF_ENST00000545262.1_Silent_p.T412T	p.T488T							12	2507	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.1464G>A	CCDS42801.1																																																																																				0.308	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		9	42	0	0	0	1	0	9	42				
BRMS1	25855	broad.mit.edu	37	11	66108293	66108293	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66108293G>A	ENST00000359957.3	-	6	647	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R163W|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	163					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTCTGGATCCGCTCCTGCAGC	0.657																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(487-489)Cgg>Tgg		breast cancer metastasis suppressor 1							31.0	28.0	29.0					11																	66108293		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66108293G>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.487C>T	11.37:g.66108293G>A	ENSP00000353042:p.Arg163Trp					BRMS1_ENST00000425825.2_Missense_Mutation_p.R163W	p.R163W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			6	647	-			163					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.487C>T	CCDS8135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.427647|4.427647	0.83667|0.83667	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825;ENST00000359957;ENST00000530756	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.063689	.|0.64402	.|D	.|0.000014	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.43923|0.43923	1.385|1.385	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.981;0.982	T|T	0.72350|0.72350	-0.4320|-0.4320	5|9	.|0.87932	.|D	.|0	-32.2834|-32.2834	15.6977|15.6977	0.77512|0.77512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;163	.|Q9HCU9;G5E9I4	.|BRMS1_HUMAN;.	V|W	125|163	.|.	.|ENSP00000353042:R163W	A|R	-|-	2|1	0|2	BRMS1|BRMS1	65864869|65864869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.669000|3.669000	0.54561|0.54561	2.318000|2.318000	0.78349|0.78349	0.455000|0.455000	0.32223|0.32223	GCG|CGG		0.657	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		22	26	0	0	0	1	0	22	26				
CGN	57530	broad.mit.edu	37	1	151503053	151503053	+	Missense_Mutation	SNP	G	G	A	rs149778114		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151503053G>A	ENST00000271636.7	+	13	2535	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGAGGCACGCCTAGAGGAG	0.687																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2401-2403)cGc>cAc		cingulin		G	HIS/ARG	1,4401		0,1,2200	21.0	25.0	24.0		2402	3.1	0.7	1	dbSNP_134	24	4,8590		0,4,4293	yes	missense	CGN	NM_020770.2	29	0,5,6493	AA,AG,GG		0.0465,0.0227,0.0385	probably-damaging	801/1204	151503053	5,12991	2201	4297	6498	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151503053G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2402G>A	1.37:g.151503053G>A	ENSP00000271636:p.Arg801His						p.R801H	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		13	2535	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		795			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2402G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657091	0.67586	2.27E-4	4.65E-4	ENSG00000143375	ENST00000271636	T	0.68765	-0.35	4.99	3.09	0.35607	.	0.465256	0.24426	N	0.038640	T	0.47395	0.1443	L	0.53249	1.67	0.22629	N	0.998914	D	0.57571	0.98	P	0.46339	0.513	T	0.36311	-0.9753	10	0.52906	T	0.07	-21.5027	8.0489	0.30566	0.255:0.0:0.745:0.0	.	795	Q9P2M7	CING_HUMAN	H	801	ENSP00000271636:R801H	ENSP00000271636:R801H	R	+	2	0	CGN	149769677	0.423000	0.25482	0.706000	0.30403	0.847000	0.48162	2.234000	0.43035	1.329000	0.45376	0.557000	0.71058	CGC		0.687	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		11	11	0	0	0	1	0	11	11				
GPR124	25960	broad.mit.edu	37	8	37702215	37702215	+	IGR	SNP	C	C	T	rs372826156		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37702215C>T	ENST00000412232.2	+	0	5651				GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Silent_p.P351P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGGACTGGCCGGCCGCTTCC	0.592																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(1051-1053)ccG>ccA		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit		T		0,4406		0,0,2203	52.0	45.0	47.0		1053	-10.6	0.0	8		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BRF2	NM_018310.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		351/420	37702215	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702215C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702215C>T						GPR124_ENST00000315215.7_3'UTR	p.P351P	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1173	-		Lung NSC(58;0.118)|all_lung(54;0.195)	351					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1053G>A	CCDS6097.2																																																																																				0.592	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	19	0	0	0	1	0	3	19				
KCNS2	3788	broad.mit.edu	37	8	99440488	99440488	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:99440488C>T	ENST00000287042.4	+	2	631	c.281C>T	c.(280-282)gCt>gTt	p.A94V	KCNS2_ENST00000521839.1_Missense_Mutation_p.A94V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	94					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CACGTCATGGCTGAGCTATGT	0.547																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(280-282)gCt>gTt		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							135.0	111.0	119.0					8																	99440488		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440488C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.281C>T	8.37:g.99440488C>T	ENSP00000287042:p.Ala94Val					KCNS2_ENST00000521839.1_Missense_Mutation_p.A94V	p.A94V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	631	+	Breast(36;2.4e-06)		94					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.281C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294992	0.40594	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.76968	-1.06;-1.06	5.41	4.51	0.55191	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.176354	0.49916	D	0.000132	T	0.62732	0.2452	N	0.22421	0.69	0.44036	D	0.99676	B	0.23937	0.094	B	0.28916	0.096	T	0.57010	-0.7884	10	0.23302	T	0.38	.	8.1776	0.31292	0.126:0.5737:0.3003:0.0	.	94	Q9ULS6	KCNS2_HUMAN	V	94	ENSP00000287042:A94V;ENSP00000430712:A94V	ENSP00000287042:A94V	A	+	2	0	KCNS2	99509664	0.985000	0.35326	0.976000	0.42696	0.961000	0.63080	2.367000	0.44213	2.527000	0.85204	0.563000	0.77884	GCT		0.547	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		40	57	0	0	0	1	0	40	57				
PAX3	5077	broad.mit.edu	37	2	223160315	223160315	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223160315A>G	ENST00000350526.4	-	3	519	c.383T>C	c.(382-384)aTg>aCg	p.M128T	PAX3_ENST00000409828.3_Missense_Mutation_p.M128T|PAX3_ENST00000336840.6_Missense_Mutation_p.M128T|PAX3_ENST00000392070.2_Missense_Mutation_p.M128T|PAX3_ENST00000409551.3_Missense_Mutation_p.M127T|PAX3_ENST00000258387.5_Missense_Mutation_p.M128T|PAX3_ENST00000344493.4_Missense_Mutation_p.M128T|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392069.2_Missense_Mutation_p.M128T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	128	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCTGAACATGCCCGGGTT	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(382-384)aTg>aCg		paired box 3							141.0	131.0	134.0					2																	223160315		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223160315A>G		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.383T>C	2.37:g.223160315A>G	ENSP00000343052:p.Met128Thr					PAX3_ENST00000258387.5_Missense_Mutation_p.M128T|PAX3_ENST00000409828.3_Missense_Mutation_p.M128T|PAX3_ENST00000409551.3_Missense_Mutation_p.M127T|PAX3_ENST00000392070.2_Missense_Mutation_p.M128T|PAX3_ENST00000336840.6_Missense_Mutation_p.M128T|PAX3_ENST00000392069.2_Missense_Mutation_p.M128T|PAX3_ENST00000344493.4_Missense_Mutation_p.M128T	p.M128T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	519	-		Renal(207;0.0183)	128			Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.383T>C	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399507	0.62177	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.067905	0.85682	D	0.000000	D	0.98871	0.9618	M	0.83223	2.63	0.80722	D	1	P;B;P;B;B;P;B	0.39480	0.675;0.319;0.572;0.041;0.226;0.526;0.058	B;B;B;B;B;B;B	0.42771	0.338;0.223;0.236;0.074;0.092;0.397;0.044	D	0.99851	1.1071	10	0.87932	D	0	.	15.6639	0.77209	1.0:0.0:0.0:0.0	.	128;128;128;127;128;128;128	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	T	128;128;128;128;128;127;128;128	ENSP00000375921:M128T;ENSP00000342092:M128T;ENSP00000343052:M128T;ENSP00000375922:M128T;ENSP00000338767:M128T;ENSP00000386750:M127T;ENSP00000386817:M128T;ENSP00000258387:M128T	ENSP00000258387:M128T	M	-	2	0	PAX3	222868559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.176000	0.68965	0.533000	0.62120	ATG		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			3	59	0	0	0	1	0	3	59				
MAP7D1	55700	broad.mit.edu	37	1	36643582	36643582	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:36643582C>T	ENST00000373151.2	+	9	1704	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	MAP7D1_ENST00000373150.4_Silent_p.S464S|MAP7D1_ENST00000373148.4_Silent_p.S42S|MAP7D1_ENST00000316156.4_Silent_p.S459S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	496	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCACCGTCCCCCCGAGGCA	0.701																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1375-1377)tcC>tcT		MAP7 domain containing 1							58.0	59.0	59.0					1																	36643582		2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36643582C>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1488C>T	1.37:g.36643582C>T						MAP7D1_ENST00000373150.4_Silent_p.S464S|MAP7D1_ENST00000373148.4_Silent_p.S42S|MAP7D1_ENST00000373151.2_Silent_p.S496S	p.S459S			Q3KQU3	MA7D1_HUMAN			8	1830	+		Myeloproliferative disorder(586;0.0393)	496					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.1377C>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	4.582	0.108117	0.08780	.	.	ENSG00000116871	ENST00000530975	.	.	.	4.95	-1.74	0.08056	.	.	.	.	.	T	0.48059	0.1479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34378	-0.9831	4	.	.	.	-18.4836	4.539	0.12047	0.1461:0.4228:0.0:0.431	.	.	.	.	S	79	.	.	P	+	1	0	MAP7D1	36416169	0.002000	0.14202	0.823000	0.32752	0.318000	0.28184	-1.163000	0.03138	-0.524000	0.06400	-0.218000	0.12543	CCC		0.701	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		13	18	0	0	0	1	0	13	18				
RABGAP1L	9910	broad.mit.edu	37	1	174190300	174190300	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:174190300C>T	ENST00000251507.4	+	3	503	c.329C>T	c.(328-330)aCa>aTa	p.T110I	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T73I	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCGTCTAACACAGGTACTGTA	0.328																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(328-330)aCa>aTa		RAB GTPase activating protein 1-like							120.0	118.0	119.0					1																	174190300		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190300C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.329C>T	1.37:g.174190300C>T	ENSP00000251507:p.Thr110Ile					RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T73I	p.T110I	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			3	503	+			110					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.329C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666081	0.47677	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.47177	0.85;3.48;0.9	5.98	5.98	0.97165	.	0.478848	0.24222	N	0.040423	T	0.64170	0.2574	L	0.56769	1.78	0.80722	D	1	D;P;B	0.76494	0.999;0.835;0.347	D;P;B	0.63488	0.915;0.616;0.111	T	0.56456	-0.7976	10	0.31617	T	0.26	.	18.6367	0.91380	0.0:1.0:0.0:0.0	.	110;110;73	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	I	73;110;110;110	ENSP00000350027:T73I;ENSP00000251507:T110I;ENSP00000403136:T110I	ENSP00000251507:T110I	T	+	2	0	RABGAP1L	172456923	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.555000	0.60767	2.847000	0.97988	0.591000	0.81541	ACA		0.328	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		25	56	0	0	0	1	0	25	56				
ZNF251	90987	broad.mit.edu	37	8	145947855	145947855	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145947855C>T	ENST00000292562.7	-	5	1465	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGTATGAACCCGATGATGGAG	0.448																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1189-1191)cGg>cAg		zinc finger protein 251							114.0	127.0	123.0					8																	145947855		2171	4279	6450	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947855C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1190G>A	8.37:g.145947855C>T	ENSP00000292562:p.Arg397Gln					ZNF251_ENST00000524394.1_Intron	p.R397Q	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1465	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		397					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1190G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257038	0.59321	.	.	ENSG00000198169	ENST00000292562	T	0.24723	1.84	2.71	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.58925	1.835	0.20307	N	0.999919	D	0.89917	1.0	D	0.71656	0.974	T	0.10989	-1.0606	9	0.87932	D	0	-12.9046	4.7959	0.13272	0.2162:0.6506:0.0:0.1332	.	397	Q9BRH9	ZN251_HUMAN	Q	397	ENSP00000292562:R397Q	ENSP00000292562:R397Q	R	-	2	0	ZNF251	145918664	0.000000	0.05858	0.964000	0.40570	0.994000	0.84299	0.186000	0.16978	1.521000	0.48983	0.563000	0.77884	CGG		0.448	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		46	89	0	0	0	1	0	46	89				
CCDC87	55231	broad.mit.edu	37	11	66358932	66358932	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66358932C>A	ENST00000333861.3	-	1	1622	c.1555G>T	c.(1555-1557)Gca>Tca	p.A519S	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	519					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTTATCTGCTGCAGGCTCA	0.488																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1555-1557)Gca>Tca		coiled-coil domain containing 87							88.0	89.0	89.0					11																	66358932		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358932C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1555G>T	11.37:g.66358932C>A	ENSP00000328487:p.Ala519Ser						p.A519S	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1622	-			519					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1555G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271395	0.05716	.	.	ENSG00000182791	ENST00000333861	T	0.35605	1.3	5.16	0.52	0.17040	.	0.558525	0.14955	N	0.288707	T	0.23611	0.0571	L	0.41710	1.295	0.09310	N	1	B	0.27882	0.192	B	0.21151	0.033	T	0.13818	-1.0495	10	0.29301	T	0.29	.	7.0167	0.24892	0.3455:0.3521:0.3024:0.0	.	519	Q9NVE4	CCD87_HUMAN	S	519	ENSP00000328487:A519S	ENSP00000328487:A519S	A	-	1	0	CCDC87	66115508	0.001000	0.12720	0.030000	0.17652	0.083000	0.17756	-0.046000	0.11983	0.273000	0.22049	-0.502000	0.04539	GCA		0.488	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		42	55	1	0	2.2871e-25	1	2.55332e-25	42	55				
NBEAL2	23218	broad.mit.edu	37	3	47042568	47042568	+	Silent	SNP	C	C	T	rs372411763		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47042568C>T	ENST00000450053.3	+	28	4562	c.4383C>T	c.(4381-4383)agC>agT	p.S1461S	NBEAL2_ENST00000292309.5_Silent_p.S1277S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1461					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGAAGGCAGCGATGAGGCTG	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4381-4383)agC>agT		neurobeachin-like 2		C		1,4289		0,1,2144	63.0	78.0	73.0		4383	-5.7	0.8	3		73	1,8489		0,1,4244	no	coding-synonymous	NBEAL2	NM_015175.1		0,2,6388	TT,TC,CC		0.0118,0.0233,0.0156		1461/2755	47042568	2,12778	2145	4245	6390	SO:0001819	synonymous_variant	23218						binding	g.chr3:47042568C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4383C>T	3.37:g.47042568C>T						NBEAL2_ENST00000292309.5_Silent_p.S1277S|NBEAL2_ENST00000383740.2_5'UTR	p.S1461S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	28	4562	+		Acute lymphoblastic leukemia(5;0.0534)	1461					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4383C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	6.930	0.541323	0.13250	2.33E-4	1.18E-4	ENSG00000160796	ENST00000416683	.	.	.	5.26	-5.73	0.02398	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	.	9.1605	0.37019	0.0:0.3803:0.0993:0.5204	.	.	.	.	V	749	.	.	A	+	2	0	NBEAL2	47017572	0.006000	0.16342	0.842000	0.33263	0.730000	0.41778	-0.932000	0.03963	-1.109000	0.02996	-0.136000	0.14681	GCG		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	10	0	0	0	1	0	7	10				
FAM172A	83989	broad.mit.edu	37	5	93217230	93217230	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:93217230A>G	ENST00000395965.3	-	7	874	c.732T>C	c.(730-732)taT>taC	p.Y244Y	FAM172A_ENST00000505869.1_Silent_p.Y134Y|FAM172A_ENST00000509739.1_Silent_p.Y97Y|FAM172A_ENST00000509163.1_Silent_p.Y198Y	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	244						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GATACTTCTCATAGAAATCAC	0.348																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(730-732)taT>taC		family with sequence similarity 172, member A							201.0	194.0	196.0					5																	93217230		2203	4299	6502	SO:0001819	synonymous_variant	83989					endoplasmic reticulum|extracellular region		g.chr5:93217230A>G		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.732T>C	5.37:g.93217230A>G						FAM172A_ENST00000509739.1_Silent_p.Y97Y|FAM172A_ENST00000505869.1_Silent_p.Y134Y|FAM172A_ENST00000509163.1_Silent_p.Y198Y	p.Y244Y	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			7	874	-			244					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Silent	SNP	ENST00000395965.3	37	c.732T>C	CCDS4069.1																																																																																				0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		39	77	0	0	0	1	0	39	77				
SPIDR	23514	broad.mit.edu	37	8	48614416	48614416	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:48614416A>G	ENST00000297423.4	+	13	2291	c.1907A>G	c.(1906-1908)gAc>gGc	p.D636G	SPIDR_ENST00000517693.1_Missense_Mutation_p.D111G|SPIDR_ENST00000541342.1_Missense_Mutation_p.D566G|SPIDR_ENST00000518074.1_Missense_Mutation_p.D576G|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	636					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCTTAAGAGACATTCTCCAG	0.418																																						ENST00000297423.4																			0											c.(1906-1908)gAc>gGc		scaffolding protein involved in DNA repair							191.0	180.0	183.0					8																	48614416		1873	4105	5978	SO:0001583	missense	23514							g.chr8:48614416A>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1907A>G	8.37:g.48614416A>G	ENSP00000297423:p.Asp636Gly					SPIDR_ENST00000517693.1_Missense_Mutation_p.D111G|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.D576G|SPIDR_ENST00000541342.1_Missense_Mutation_p.D566G	p.D636G	NM_001080394.2	NP_001073863.1					13	2291	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1907A>G	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.04|11.04	1.520823|1.520823	0.27211|0.27211	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362|ENST00000519401	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.342223|.	0.31461|.	N|.	0.007615|.	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.29908|0.29908	0.895|0.895	0.38800|0.38800	D|D	0.955171|0.955171	B;B;D;P;P;P;B;P|.	0.56521|.	0.112;0.112;0.976;0.844;0.867;0.728;0.112;0.844|.	B;B;P;P;B;B;B;P|.	0.53360|.	0.049;0.049;0.724;0.503;0.382;0.366;0.049;0.503|.	T|T	0.54437|0.54437	-0.8294|-0.8294	9|5	0.33940|.	T|.	0.23|.	.|.	13.647|13.647	0.62288|0.62288	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	126;141;576;566;636;325;111;636|.	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159|.	.;.;.;.;.;.;.;K0146_HUMAN|.	G|A	636;576;566;141;111;111|318	.|.	ENSP00000297423:D636G|.	D|T	+|+	2|1	0|0	KIAA0146|KIAA0146	48776969|48776969	0.994000|0.994000	0.37717|0.37717	0.600000|0.600000	0.28864|0.28864	0.323000|0.323000	0.28346|0.28346	3.555000|3.555000	0.53727|0.53727	2.056000|2.056000	0.61249|0.61249	0.529000|0.529000	0.55759|0.55759	GAC|ACA		0.418	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		97	110	0	0	0	1	0	97	110				
PHF3	23469	broad.mit.edu	37	6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A	rs200059706		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19721	0.0		0.0	False		,,,				2504	0.0				GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1804-1806)Gct>Act		PHD finger protein 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	77.0	71.0	73.0		1804	4.0	0.0	6		73	0,8600		0,0,4300	yes	missense	PHF3	NM_015153.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	602/2040	64395427	1,13005	2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395427G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1804G>A	6.37:g.64395427G>A	ENSP00000262043:p.Ala602Thr					PHF3_ENST00000393387.1_Missense_Mutation_p.A602T|PHF3_ENST00000509330.1_Missense_Mutation_p.A602T	p.A602T			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	2144	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		602					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1804G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	0.358	-0.940916	0.02322	2.27E-4	0.0	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.41065	2.34;2.02;2.33;2.01;1.01;2.33	5.77	3.99	0.46301	.	0.376734	0.19432	N	0.114420	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.003;0.087	B;B	0.13407	0.002;0.009	T	0.30592	-0.9973	10	0.15952	T	0.53	-10.1744	9.4204	0.38548	0.2314:0.0:0.7686:0.0	.	602;602	Q92576;D6R9X2	PHF3_HUMAN;.	T	416;514;602;555;602;602	ENSP00000424694:A416T;ENSP00000425227:A514T;ENSP00000262043:A602T;ENSP00000424078:A555T;ENSP00000422841:A602T;ENSP00000377048:A602T	ENSP00000262043:A602T	A	+	1	0	PHF3	64453386	0.000000	0.05858	0.038000	0.18304	0.032000	0.12392	0.314000	0.19432	0.785000	0.33685	0.591000	0.81541	GCT		0.408	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			18	32	0	0	0	1	0	18	32				
TBC1D9	23158	broad.mit.edu	37	4	141580778	141580778	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:141580778G>A	ENST00000442267.2	-	11	1959	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGGAGCATGCGCTCACACAAA	0.443																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1885-1887)Cgc>Tgc		TBC1 domain family, member 9 (with GRAM domain)							58.0	62.0	60.0					4																	141580778		2081	4228	6309	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141580778G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1885C>T	4.37:g.141580778G>A	ENSP00000411197:p.Arg629Cys						p.R629C	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			11	1959	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	629			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1885C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277780	0.80692	.	.	ENSG00000109436	ENST00000442267	T	0.11712	2.75	5.62	4.75	0.60458	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.52472	-0.8571	10	0.87932	D	0	.	15.9752	0.80057	0.0:0.0:0.8649:0.1351	.	629	Q6ZT07	TBCD9_HUMAN	C	629	ENSP00000411197:R629C	ENSP00000411197:R629C	R	-	1	0	TBC1D9	141800228	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.764000	0.38471	2.634000	0.89283	0.655000	0.94253	CGC		0.443	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		3	6	0	0	0	1	0	3	6				
ADAMTS4	9507	broad.mit.edu	37	1	161167892	161167892	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161167892G>A	ENST00000367996.5	-	1	954	c.526C>T	c.(526-528)Cct>Tct	p.P176S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P176S|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	176					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGAGCCCCAGGTCCCCCAGCA	0.642																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(526-528)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 4							54.0	53.0	54.0					1																	161167892		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167892G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.526C>T	1.37:g.161167892G>A	ENSP00000356975:p.Pro176Ser					ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P176S	p.P176S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	954	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		176					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.526C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306139	0.23736	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.64618	0.02;-0.11	5.26	3.24	0.37175	.	0.457457	0.19244	N	0.119094	T	0.15696	0.0378	N	0.08118	0	0.09310	N	0.999999	P;B	0.37914	0.611;0.007	B;B	0.35114	0.196;0.044	T	0.09143	-1.0688	10	0.10377	T	0.69	.	7.0272	0.24946	0.0:0.2682:0.4809:0.2509	.	176;176	Q5VTW1;O75173	.;ATS4_HUMAN	S	176	ENSP00000356975:P176S;ENSP00000356974:P176S	ENSP00000356974:P176S	P	-	1	0	ADAMTS4	159434516	0.013000	0.17824	0.953000	0.39169	0.949000	0.60115	1.094000	0.30951	2.439000	0.82584	0.491000	0.48974	CCT		0.642	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		17	17	0	0	0	1	0	17	17				
SH3BP4	23677	broad.mit.edu	37	2	235943651	235943651	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:235943651C>T	ENST00000409212.1	+	3	512	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A2V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A2V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	2					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCGAGATGGCGGCTCAGCGG	0.557																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(4-6)gCg>gTg		SH3-domain binding protein 4							36.0	40.0	39.0					2																	235943651		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943651C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.5C>T	2.37:g.235943651C>T	ENSP00000386862:p.Ala2Val					SH3BP4_ENST00000344528.4_Missense_Mutation_p.A2V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A2V	p.A2V			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	512	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	2					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.5C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308596	0.95629	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.39056	2.52;1.13;2.52;2.52;1.1	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.58183	-0.7681	10	0.87932	D	0	-25.6327	15.6121	0.76733	0.0:1.0:0.0:0.0	.	2;2	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	2	ENSP00000375867:A2V;ENSP00000403251:A2V;ENSP00000386862:A2V;ENSP00000340237:A2V;ENSP00000415391:A2V	ENSP00000340237:A2V	A	+	2	0	SH3BP4	235608390	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.077000	0.76814	2.275000	0.75901	0.655000	0.94253	GCG		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			12	11	0	0	0	1	0	12	11				
UNC13C	440279	broad.mit.edu	37	15	54305717	54305717	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:54305717C>T	ENST00000260323.11	+	1	617	c.617C>T	c.(616-618)tCc>tTc	p.S206F	UNC13C_ENST00000545554.1_Missense_Mutation_p.S206F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S206F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	206					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAAAAAATCCTGGGGAATA	0.438																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(616-618)tCc>tTc		unc-13 homolog C (C. elegans)							92.0	91.0	91.0					15																	54305717		1842	4086	5928	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305717C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.617C>T	15.37:g.54305717C>T	ENSP00000260323:p.Ser206Phe					UNC13C_ENST00000260323.11_Missense_Mutation_p.S206F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S206F	p.S206F			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	617	+			206					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.617C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591632	0.46214	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79653	-1.29;-1.29;-1.29	4.97	4.97	0.65823	.	.	.	.	.	T	0.72036	0.3411	N	0.14661	0.345	0.35912	D	0.831165	B	0.22480	0.07	B	0.31016	0.123	T	0.75712	-0.3222	9	0.87932	D	0	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	206	Q8NB66	UN13C_HUMAN	F	206	ENSP00000260323:S206F;ENSP00000438156:S206F;ENSP00000442569:S206F	ENSP00000260323:S206F	S	+	2	0	UNC13C	52093009	1.000000	0.71417	0.991000	0.47740	0.661000	0.39034	6.029000	0.70895	2.281000	0.76405	0.650000	0.86243	TCC		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		35	59	0	0	0	1	0	35	59				
IL17REL	400935	broad.mit.edu	37	22	50437876	50437876	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50437876G>A	ENST00000389983.2	-	8	794	c.530C>T	c.(529-531)cCg>cTg	p.P177L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P177L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	177										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCACAGGCACGGCAGCTCCTG	0.716																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(529-531)cCg>cTg		interleukin 17 receptor E-like							21.0	18.0	19.0					22																	50437876		2198	4291	6489	SO:0001583	missense	400935							g.chr22:50437876G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.530C>T	22.37:g.50437876G>A	ENSP00000374633:p.Pro177Leu					IL17REL_ENST00000341280.5_Missense_Mutation_p.P177L	p.P177L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	8	794	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	177					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.530C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508922	0.64410	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.51325	0.71;0.71	3.25	3.25	0.37280	.	0.000000	0.64402	U	0.000007	T	0.62233	0.2411	M	0.73962	2.25	0.09310	N	0.999999	D	0.67145	0.996	P	0.62089	0.898	T	0.54642	-0.8263	10	0.87932	D	0	.	10.3291	0.43812	0.0:0.0:1.0:0.0	.	177	Q6ZVW7	I17EL_HUMAN	L	177	ENSP00000374633:P177L;ENSP00000342520:P177L	ENSP00000342520:P177L	P	-	2	0	IL17REL	48780003	0.415000	0.25416	0.091000	0.20842	0.047000	0.14425	1.507000	0.35758	1.517000	0.48917	0.655000	0.94253	CCG		0.716	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		6	6	0	0	0	1	0	6	6				
TXNIP	10628	broad.mit.edu	37	1	145438944	145438944	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145438944G>T	ENST00000369317.4	+	1	476	c.142G>T	c.(142-144)Gct>Tct	p.A48S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	48					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGATCCTGGCTTGCGGAGT	0.542																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(142-144)Gct>Tct		thioredoxin interacting protein							143.0	128.0	133.0					1																	145438944		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438944G>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.142G>T	1.37:g.145438944G>T	ENSP00000358323:p.Ala48Ser					TXNIP_ENST00000475171.1_Intron	p.A48S	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	476	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		48					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.142G>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569336	0.96540	.	.	ENSG00000117289	ENST00000369317	T	0.14391	2.51	5.74	5.74	0.90152	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.231325	0.42682	D	0.000670	T	0.12433	0.0302	L	0.61036	1.89	0.58432	D	0.999994	P	0.43826	0.818	B	0.41299	0.353	T	0.01074	-1.1460	10	0.66056	D	0.02	-16.8584	17.4057	0.87473	0.0:0.0:1.0:0.0	.	48	Q9H3M7	TXNIP_HUMAN	S	48	ENSP00000358323:A48S	ENSP00000358323:A48S	A	+	1	0	TXNIP	144150301	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.980000	0.93460	2.722000	0.93159	0.655000	0.94253	GCT		0.542	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		25	24	1	0	7.41945e-09	1	7.84611e-09	25	24				
PDLIM5	10611	broad.mit.edu	37	4	95575717	95575717	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:95575717G>A	ENST00000317968.4	+	10	1526	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	PDLIM5_ENST00000514743.1_Missense_Mutation_p.A493T|PDLIM5_ENST00000542407.1_Missense_Mutation_p.A342T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A355T|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	464	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGAGAAAGGAGCCCTGTATTG	0.433																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1390-1392)Gcc>Acc		PDZ and LIM domain 5							136.0	137.0	136.0					4																	95575717		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95575717G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1390G>A	4.37:g.95575717G>A	ENSP00000321746:p.Ala464Thr					PDLIM5_ENST00000542407.1_Missense_Mutation_p.A342T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A493T|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A355T	p.A464T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	10	1526	+		Hepatocellular(203;0.114)	464			LIM zinc-binding 1.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1390G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497786	0.64186	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.86	5.86	0.93980	Zinc finger, LIM-type (4);	0.108328	0.64402	D	0.000004	D	0.84866	0.5567	N	0.16066	0.365	0.31562	N	0.657366	P;D;P;B	0.56521	0.908;0.976;0.775;0.393	P;P;P;B	0.59288	0.542;0.855;0.752;0.312	T	0.81484	-0.0912	10	0.18276	T	0.48	.	15.2874	0.73838	0.0688:0.0:0.9312:0.0	.	361;493;464;355	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	T	355;464;361;342;493	ENSP00000398469:A355T;ENSP00000321746:A464T;ENSP00000424297:A361T;ENSP00000442187:A342T;ENSP00000424360:A493T	ENSP00000321746:A464T	A	+	1	0	PDLIM5	95794740	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	0.920000	0.28705	2.763000	0.94921	0.585000	0.79938	GCC		0.433	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			26	65	0	0	0	1	0	26	65				
EYA2	2139	broad.mit.edu	37	20	45797813	45797813	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45797813C>T	ENST00000327619.5	+	11	1379	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	EYA2_ENST00000317304.6_Silent_p.D305D|MIR3616_ENST00000584070.1_RNA|EYA2_ENST00000357410.3_Silent_p.D335D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	335					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACGTTGATGACGTCTCATCAG	0.418																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1003-1005)gaC>gaT		eyes absent homolog 2 (Drosophila)							155.0	147.0	150.0					20																	45797813		2203	4300	6503	SO:0001819	synonymous_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45797813C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1005C>T	20.37:g.45797813C>T						EYA2_ENST00000317304.6_Silent_p.D305D|EYA2_ENST00000357410.3_Silent_p.D335D	p.D335D	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			11	1379	+		Myeloproliferative disorder(115;0.0241)	335					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	c.1005C>T	CCDS13403.1																																																																																				0.418	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		37	74	0	0	0	1	0	37	74				
CACNA1H	8912	broad.mit.edu	37	16	1265558	1265558	+	Missense_Mutation	SNP	G	G	A	rs61372944		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1265558G>A	ENST00000348261.5	+	30	5457	c.5209G>A	c.(5209-5211)Gcc>Acc	p.A1737T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1731T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1731T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1737					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGGCATGCGCGCCCTGCTGGA	0.711																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5209-5211)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						32.0	37.0	35.0					16																	1265558		2070	4189	6259	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1265558G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5209G>A	16.37:g.1265558G>A	ENSP00000334198:p.Ala1737Thr					CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1731T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1731T	p.A1737T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			30	5457	+		Hepatocellular(780;0.00369)	1737					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.5209G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034983	0.35893	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98135	-4.74;-4.74	3.65	3.65	0.41850	Ion transport (1);	0.061575	0.64402	D	0.000005	D	0.96784	0.8950	N	0.13327	0.33	0.45490	D	0.998458	D;D;P;D;D	0.89917	1.0;0.975;0.894;0.961;0.999	D;P;B;P;D	0.81914	0.995;0.792;0.393;0.567;0.987	D	0.97787	1.0236	10	0.87932	D	0	.	14.8334	0.70164	0.0:0.0:1.0:0.0	rs61372944	483;472;478;1731;1737	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1737;1731	ENSP00000334198:A1737T;ENSP00000351401:A1731T	ENSP00000334198:A1737T	A	+	1	0	CACNA1H	1205559	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.406000	0.80017	2.035000	0.60131	0.491000	0.48974	GCC		0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	16	0	0	0	1	0	4	16				
PAK3	5063	broad.mit.edu	37	X	110439716	110439716	+	Nonsense_Mutation	SNP	C	C	T	rs121434611		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:110439716C>T	ENST00000372010.1	+	17	1742	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	PAK3_ENST00000360648.4_Nonsense_Mutation_p.R455*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372007.5_Nonsense_Mutation_p.R419*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.R434*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.R455*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R419*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAAAGTAAACGAAGCACTAT	0.433										TSP Lung(19;0.15)																												ENST00000519681.1																			1	Substitution - Nonsense(1)	p.R419*(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41	GRCh37	CM981458	PAK3	M	rs121434611	c.(1318-1320)Cga>Tga		p21 protein (Cdc42/Rac)-activated kinase 3							133.0	128.0	130.0					X																	110439716		2203	4300	6503	SO:0001587	stop_gained	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439716C>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1300C>T	X.37:g.110439716C>T	ENSP00000361080:p.Arg434*	TSP Lung(19;0.15)				PAK3_ENST00000360648.4_Nonsense_Mutation_p.R455*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.R440*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.R434*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372007.4_Nonsense_Mutation_p.R419*|PAK3_ENST00000446737.1_Nonsense_Mutation_p.R419*|PAK3_ENST00000372010.1_Nonsense_Mutation_p.R434*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.R455*	p.R440*			O75914	PAK3_HUMAN			17	1760	+			434		T -> S (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Nonsense_Mutation	SNP	ENST00000372010.1	37	c.1318C>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	42	9.295059	0.99128	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	.	.	.	5.37	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3491	0.66688	0.2484:0.7516:0.0:0.0	.	.	.	.	X	419;419;434;440;419;455;455;440;434	.	ENSP00000262836:R434X	R	+	1	2	PAK3	110326372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.659000	0.54489	2.373000	0.80994	0.594000	0.82650	CGA		0.433	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		29	9	0	0	0	1	0	29	9				
HFE2	148738	broad.mit.edu	37	1	145416688	145416688	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:145416688C>T	ENST00000336751.5	+	4	1271	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	HFE2_ENST00000357836.5_Missense_Mutation_p.R232W|HFE2_ENST00000497365.1_Missense_Mutation_p.R119W|HFE2_ENST00000475797.1_Missense_Mutation_p.R119W	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	345					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTGCCAGACGGCTGTGCAA	0.522																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(1033-1035)Cgg>Tgg		hemochromatosis type 2 (juvenile)							131.0	121.0	124.0					1																	145416688		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416688C>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1033C>T	1.37:g.145416688C>T	ENSP00000337014:p.Arg345Trp					HFE2_ENST00000475797.1_Missense_Mutation_p.R119W|HFE2_ENST00000357836.5_Missense_Mutation_p.R232W|HFE2_ENST00000497365.1_Missense_Mutation_p.R119W	p.R345W	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			4	1271	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		345					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.1033C>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518923	0.44866	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.44	2.4	0.29515	Repulsive guidance molecule, C-terminal (1);	0.831048	0.10717	N	0.642180	T	0.65585	0.2705	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.47075	0.536	T	0.60073	-0.7334	10	0.66056	D	0.02	-21.908	3.347	0.07139	0.33:0.4373:0.1496:0.0831	.	345	Q6ZVN8	RGMC_HUMAN	W	232;345;119;119	ENSP00000350495:R232W;ENSP00000337014:R345W;ENSP00000421820:R119W;ENSP00000425716:R119W	ENSP00000337014:R345W	R	+	1	2	HFE2	144128045	0.002000	0.14202	0.624000	0.29186	0.535000	0.34838	0.838000	0.27572	0.352000	0.24053	-0.182000	0.12963	CGG		0.522	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		13	24	0	0	0	1	0	13	24				
LFNG	3955	broad.mit.edu	37	7	2564899	2564899	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2564899G>A	ENST00000222725.5	+	3	548	c.528G>A	c.(526-528)gcG>gcA	p.A176A	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Silent_p.A47A|LFNG_ENST00000338732.3_Silent_p.A47A|LFNG_ENST00000402506.1_Silent_p.A105A|LFNG_ENST00000359574.3_Silent_p.A176A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	176					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCCGCCAGGCGCTGTCCTGCA	0.672																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(526-528)gcG>gcA		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							37.0	39.0	38.0					7																	2564899		2202	4300	6502	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2564899G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.528G>A	7.37:g.2564899G>A						LFNG_ENST00000402045.1_Silent_p.A47A|LFNG_ENST00000359574.3_Silent_p.A176A|LFNG_ENST00000338732.3_Silent_p.A47A|LFNG_ENST00000402506.1_Silent_p.A105A	p.A176A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	3	548	+		Ovarian(82;0.0112)	176					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.528G>A	CCDS34587.1																																																																																				0.672	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		15	7	0	0	0	1	0	15	7				
PCDH7	5099	broad.mit.edu	37	4	30724564	30724564	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:30724564C>T	ENST00000361762.2	+	1	2528	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	PCDH7_ENST00000543491.1_Missense_Mutation_p.A507V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	507	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCATCGTGGCGGTGGACTCA	0.597																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1519-1521)gCg>gTg		protocadherin 7							60.0	50.0	54.0					4																	30724564		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724564C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1520C>T	4.37:g.30724564C>T	ENSP00000355243:p.Ala507Val					PCDH7_ENST00000543491.1_Missense_Mutation_p.A507V	p.A507V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2528	+			507			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1520C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210762	0.79240	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.30182	1.54;1.54	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55593	0.1930	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.56768	-0.7924	9	0.87932	D	0	.	19.0611	0.93093	0.0:1.0:0.0:0.0	.	507;460;507	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	V	507;507;460	ENSP00000355243:A507V;ENSP00000441802:A507V	ENSP00000330302:A460V	A	+	2	0	PCDH7	30333662	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	7.651000	0.83577	2.735000	0.93741	0.655000	0.94253	GCG		0.597	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		8	10	0	0	0	1	0	8	10				
PGAM2	5224	broad.mit.edu	37	7	44102514	44102514	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44102514G>A	ENST00000297283.3	-	3	668	c.611C>T	c.(610-612)gCg>gTg	p.A204V	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	204					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CTCCATGATCGCCTGGTCTGA	0.547																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(610-612)gCg>gTg		phosphoglycerate mutase 2 (muscle)							136.0	112.0	120.0					7																	44102514		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102514G>A		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.611C>T	7.37:g.44102514G>A	ENSP00000297283:p.Ala204Val						p.A204V	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	668	-			204						Missense_Mutation	SNP	ENST00000297283.3	37	c.611C>T	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915293	0.52546	.	.	ENSG00000164708	ENST00000297283	T	0.80653	-1.4	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.78285	2.405	0.80722	D	1	D	0.61080	0.989	P	0.44561	0.453	D	0.85878	0.1420	10	0.62326	D	0.03	-34.7586	15.8005	0.78450	0.0:0.0:1.0:0.0	.	204	P15259	PGAM2_HUMAN	V	204	ENSP00000297283:A204V	ENSP00000297283:A204V	A	-	2	0	PGAM2	44069039	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.417000	0.66423	2.416000	0.81992	0.456000	0.33151	GCG		0.547	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			21	24	0	0	0	1	0	21	24				
IFI35	3430	broad.mit.edu	37	17	41165610	41165610	+	Missense_Mutation	SNP	G	G	A	rs202144105	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41165610G>A	ENST00000415816.2	+	5	716	c.493G>A	c.(493-495)Gga>Aga	p.G165R	IFI35_ENST00000438323.2_Missense_Mutation_p.G167R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	165					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACTAGGAACGGAGGTGGCGA	0.597													G|||	11	0.00219649	0.0	0.0014	5008	,	,		21086	0.0069		0.0	False		,,,				2504	0.0031					ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(493-495)Gga>Aga		interferon-induced protein 35		G	ARG/GLY	0,4406		0,0,2203	267.0	262.0	264.0		499	4.9	0.8	17		264	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFI35	NM_005533.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	167/289	41165610	1,13005	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41165610G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.493G>A	17.37:g.41165610G>A	ENSP00000394579:p.Gly165Arg					IFI35_ENST00000438323.2_Missense_Mutation_p.G167R	p.G165R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	5	716	+		Breast(137;0.00499)	165					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.493G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.93	3.508816	0.64410	0.0	1.16E-4	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.67345	-0.26;-0.26	4.93	4.93	0.64822	Nmi/IFP 35 (1);	0.186798	0.47852	D	0.000205	D	0.84451	0.5475	M	0.89840	3.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87429	0.2387	10	0.72032	D	0.01	.	14.9937	0.71412	0.0:0.0:1.0:0.0	.	165	P80217	IN35_HUMAN	R	165;167	ENSP00000394579:G165R;ENSP00000395590:G167R	ENSP00000394579:G165R	G	+	1	0	IFI35	38419136	1.000000	0.71417	0.754000	0.31244	0.268000	0.26511	7.241000	0.78201	2.567000	0.86603	0.561000	0.74099	GGA		0.597	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		72	88	0	0	0	1	0	72	88				
RSBN1	54665	broad.mit.edu	37	1	114310903	114310903	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:114310903C>A	ENST00000261441.5	-	5	1830	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	589						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGTCAAACCCCTGACCGA	0.438																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1765-1767)ggG>ggT		round spermatid basic protein 1							106.0	102.0	103.0					1																	114310903		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114310903C>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1767G>T	1.37:g.114310903C>A							p.G589G	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1830	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	589					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.1767G>T	CCDS862.1																																																																																				0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		29	29	1	0	2.12542e-12	1	2.29988e-12	29	29				
KAT6B	23522	broad.mit.edu	37	10	76732345	76732345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:76732345C>T	ENST00000287239.4	+	7	1498	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	KAT6B_ENST00000372724.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.R337*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	337					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AATAAAACGACGATATGCAAA	0.328																																						ENST00000287239.4																			0											c.(1009-1011)Cga>Tga		K(lysine) acetyltransferase 6B							140.0	146.0	144.0					10																	76732345		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76732345C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1009C>T	10.37:g.76732345C>T	ENSP00000287239:p.Arg337*					KAT6B_ENST00000372724.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.R337*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.R337*	p.R337*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			7	1498	+			337					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.1009C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	41	8.797145	0.98958	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	5.7	5.7	0.88788	.	0.000000	0.37715	N	0.001979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5539	19.827	0.96621	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000287239:R337X	R	+	1	2	KAT6B	76402351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	2.685000	0.91497	0.655000	0.94253	CGA		0.328	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		47	64	0	0	0	1	0	47	64				
DPYSL2	1808	broad.mit.edu	37	8	26481823	26481823	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:26481823G>A	ENST00000311151.5	+	4	890	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	DPYSL2_ENST00000521913.1_Splice_Site_p.G124R|DPYSL2_ENST00000523027.1_Splice_Site_p.G124R	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	160					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GAAGGATCACGGTAGGTTGCA	0.527																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.e4+1		dihydropyrimidinase-like 2							182.0	147.0	159.0					8																	26481823		2203	4300	6503	SO:0001630	splice_region_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481823G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.478+1G>A	8.37:g.26481823G>A						DPYSL2_ENST00000523027.1_Splice_Site_p.G124_splice|DPYSL2_ENST00000521913.1_Splice_Site_p.G124_splice	p.G160_splice	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	4	890	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	160					A8K5H2|B4DR31|D3DSS7|O00424	Splice_Site	SNP	ENST00000311151.5	37	c.478_splice	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010509	0.93346	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.75	5.75	0.90469	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99271	1.0893	10	0.87932	D	0	-13.8788	19.9417	0.97165	0.0:0.0:1.0:0.0	.	160;160;216	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	R	124;160;160;124	ENSP00000427985:G124R;ENSP00000309539:G160R;ENSP00000428909:G160R;ENSP00000431117:G124R	ENSP00000309539:G160R	G	+	1	0	DPYSL2	26537740	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	9.869000	0.99810	2.720000	0.93068	0.655000	0.94253	GGG		0.527	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	Missense_Mutation	20	38	0	0	0	1	0	20	38				
AMER3	205147	broad.mit.edu	37	2	131520426	131520426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:131520426C>T	ENST00000423981.1	+	2	891	c.781C>T	c.(781-783)Cca>Tca	p.P261S	AMER3_ENST00000321420.4_Missense_Mutation_p.P261S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	261					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GAGCTCGGTGCCATCTCTGGA	0.647																																						ENST00000423981.1																			0											c.(781-783)Cca>Tca		APC membrane recruitment protein 3							48.0	54.0	52.0					2																	131520426		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520426C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.781C>T	2.37:g.131520426C>T	ENSP00000392700:p.Pro261Ser					AMER3_ENST00000321420.4_Missense_Mutation_p.P261S	p.P261S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	891	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.781C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242884	0.39598	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17854	2.25;2.25	5.21	4.31	0.51392	.	0.294340	0.32952	N	0.005448	T	0.27027	0.0662	L	0.57536	1.79	0.37894	D	0.930803	P	0.52316	0.952	P	0.53593	0.73	T	0.02358	-1.1171	10	0.45353	T	0.12	.	10.3293	0.43812	0.0:0.9037:0.0:0.0963	.	261	Q8N944	F123C_HUMAN	S	261	ENSP00000314914:P261S;ENSP00000392700:P261S	ENSP00000314914:P261S	P	+	1	0	FAM123C	131236896	1.000000	0.71417	0.969000	0.41365	0.076000	0.17211	2.813000	0.48002	2.597000	0.87782	0.561000	0.74099	CCA		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	40	0	0	0	1	0	10	40				
GAS7	8522	broad.mit.edu	37	17	9820569	9820569	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:9820569G>A	ENST00000432992.2	-	14	1567	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	GAS7_ENST00000540214.1_Silent_p.I174I|GAS7_ENST00000542249.1_Silent_p.I405I|GAS7_ENST00000437099.2_Silent_p.I405I|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.I409I|GAS7_ENST00000396115.2_Silent_p.I174I|GAS7_ENST00000580865.1_Silent_p.I329I|GAS7_ENST00000323816.4_Silent_p.I409I|GAS7_ENST00000579158.1_Silent_p.I405I	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	469					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCACAGGGCGGATGTTGCCCG	0.637			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(1225-1227)atC>atT		growth arrest-specific 7							153.0	117.0	129.0					17																	9820569		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9820569G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1407C>T	17.37:g.9820569G>A						GAS7_ENST00000542249.1_Silent_p.I414I|GAS7_ENST00000437099.2_Silent_p.I405I|GAS7_ENST00000580865.1_Silent_p.I329I|GAS7_ENST00000579158.1_Silent_p.I421I|GAS7_ENST00000585266.1_Silent_p.I405I|GAS7_ENST00000432992.2_Silent_p.I469I|GAS7_ENST00000323816.4_Silent_p.I405I|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Silent_p.I174I	p.I409I	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			14	1537	-			469					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.1227C>T	CCDS11152.1																																																																																				0.637	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		15	50	0	0	0	1	0	15	50				
VSTM1	284415	broad.mit.edu	37	19	54545614	54545614	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54545614G>A	ENST00000338372.2	-	5	579	c.404C>T	c.(403-405)aCc>aTc	p.T135I	VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.T47I|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	135					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GACAAAGATGGTTCTGGTGTC	0.532																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(403-405)aCc>aTc		V-set and transmembrane domain containing 1							86.0	68.0	74.0					19																	54545614		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545614G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.404C>T	19.37:g.54545614G>A	ENSP00000343366:p.Thr135Ile					VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Missense_Mutation_p.T47I|VSTM1_ENST00000425006.2_3'UTR	p.T135I	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	5	579	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		135					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.404C>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	0.767	-0.767069	0.02974	.	.	ENSG00000189068	ENST00000338372;ENST00000366170	T;T	0.52295	6.76;0.67	3.58	0.342	0.15996	.	.	.	.	.	T	0.28167	0.0695	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17471	-1.0368	9	0.34782	T	0.22	-8.5867	5.7553	0.18170	0.6059:0.0:0.3941:0.0	.	135	Q6UX27	VSTM1_HUMAN	I	135;47	ENSP00000343366:T135I;ENSP00000444153:T47I	ENSP00000343366:T135I	T	-	2	0	VSTM1	59237426	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.580000	0.05827	-0.004000	0.14419	-0.333000	0.08304	ACC		0.532	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		3	11	0	0	0	1	0	3	11				
C11orf70	85016	broad.mit.edu	37	11	101946621	101946621	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:101946621C>T	ENST00000434758.2	+	5	481	c.453C>T	c.(451-453)gaC>gaT	p.D151D	C11orf70_ENST00000534360.1_Missense_Mutation_p.L96F|C11orf70_ENST00000526781.1_Silent_p.D151D	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	151										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TAGTGGAAGACTCAGAAAAAT	0.323																																						ENST00000534360.1																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(286-288)Ctc>Ttc		chromosome 11 open reading frame 70							108.0	108.0	108.0					11																	101946621		2203	4299	6502	SO:0001819	synonymous_variant	85016							g.chr11:101946621C>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.453C>T	11.37:g.101946621C>T						C11orf70_ENST00000526781.1_Silent_p.D151D|C11orf70_ENST00000434758.2_Silent_p.D151D	p.L96F	NM_001195005.1	NP_001181934.1	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	4	299	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	0					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.286C>T	CCDS8313.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.549003|2.549003	0.45383|0.45383	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000534360|ENST00000529204	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|.	.|.	.|.	.|.	T|T	0.41373|0.41373	0.1156|0.1156	.|.	.|.	.|.	0.27152|0.27152	N|N	0.961383|0.961383	P|.	0.40107|.	0.703|.	B|.	0.38562|.	0.276|.	T|T	0.30387|0.30387	-0.9980|-0.9980	7|4	0.72032|.	D|.	0.01|.	-14.4847|-14.4847	10.9667|10.9667	0.47416|0.47416	0.0:0.8862:0.0:0.1138|0.0:0.8862:0.0:0.1138	.|.	96|.	E9PJU1|.	.|.	F|I	96|43	.|.	ENSP00000435482:L96F|.	L|T	+|+	1|2	0|0	C11orf70|C11orf70	101451831|101451831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.392000|2.392000	0.44433|0.44433	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	CTC|ACT		0.323	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		30	23	0	0	0	1	0	30	23				
SOWAHC	65124	broad.mit.edu	37	2	110373357	110373357	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:110373357G>A	ENST00000356454.3	+	1	1447	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	431																	ACTCTCACACGCCCTAGAAGA	0.642																																						ENST00000356454.3																			0											c.(1291-1293)Gcc>Acc		sosondowah ankyrin repeat domain family member C							41.0	46.0	44.0					2																	110373357		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373357G>A	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1291G>A	2.37:g.110373357G>A	ENSP00000365830:p.Ala431Thr						p.A431T	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1447	+			431					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1291G>A	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	4.129	0.022123	0.08006	.	.	ENSG00000198142	ENST00000356454	T	0.41758	0.99	4.69	2.89	0.33648	.	1.863430	0.03176	N	0.171478	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18650	-1.0330	10	0.22706	T	0.39	-10.0977	7.1194	0.25435	0.0905:0.3292:0.5802:0.0	.	431	Q53LP3	ANR57_HUMAN	T	431	ENSP00000365830:A431T	ENSP00000365830:A431T	A	+	1	0	ANKRD57	109730646	0.088000	0.21588	0.005000	0.12908	0.003000	0.03518	1.061000	0.30542	0.597000	0.29811	-0.273000	0.10243	GCC		0.642	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		10	12	0	0	0	1	0	10	12				
KDM6A	7403	broad.mit.edu	37	X	44929288	44929288	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:44929288C>T	ENST00000377967.4	+	17	2429	c.2388C>T	c.(2386-2388)acC>acT	p.T796T	KDM6A_ENST00000382899.4_Silent_p.T803T|KDM6A_ENST00000536777.1_Silent_p.T751T|KDM6A_ENST00000543216.1_Silent_p.T717T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	796	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTACTGGAACCTGTGACAAAG	0.443			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2386-2388)acC>acT		lysine (K)-specific demethylase 6A							173.0	121.0	139.0					X																	44929288		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929288C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2388C>T	X.37:g.44929288C>T						KDM6A_ENST00000543216.1_Silent_p.T717T|KDM6A_ENST00000536777.1_Silent_p.T751T|KDM6A_ENST00000382899.4_Silent_p.T803T	p.T796T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2429	+			796					Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.2388C>T	CCDS14265.1																																																																																				0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		13	1	0	0	0	1	0	13	1				
TIAM2	26230	broad.mit.edu	37	6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	rs146734733		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGGTATCCGCCTTTCTGAT	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(949-951)cGc>cAc		T-cell lymphoma invasion and metastasis 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	66.0	68.0		950	4.9	0.1	6	dbSNP_134	68	0,8600		0,0,4300	no	missense	TIAM2	NM_012454.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	317/1702	155451307	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451307G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.950G>A	6.37:g.155451307G>A	ENSP00000437188:p.Arg317His					TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR	p.R317H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2223	+		Ovarian(120;0.196)	317					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.950G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803768	0.16467	2.27E-4	0.0	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05786	3.5;3.39;3.45;3.5;3.51;3.45	4.86	4.86	0.63082	.	0.550454	0.19835	N	0.104995	T	0.04770	0.0129	M	0.71581	2.175	0.41426	D	0.987836	D	0.53151	0.958	B	0.36989	0.238	T	0.43861	-0.9365	10	0.37606	T	0.19	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	317	Q8IVF5	TIAM2_HUMAN	H	317;563;317;317;317;317;317	ENSP00000437188:R317H;ENSP00000434901:R317H;ENSP00000407746:R317H;ENSP00000327315:R317H;ENSP00000353528:R317H;ENSP00000433348:R317H	ENSP00000327315:R317H	R	+	2	0	TIAM2	155492999	0.998000	0.40836	0.070000	0.20053	0.005000	0.04900	4.264000	0.58859	2.420000	0.82092	0.563000	0.77884	CGC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	26	0	0	0	1	0	6	26				
ADAM22	53616	broad.mit.edu	37	7	87816006	87816006	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87816006C>T	ENST00000265727.7	+	29	2655				ADAM22_ENST00000315984.7_Missense_Mutation_p.P849S|ADAM22_ENST00000398204.4_Intron|ADAM22_ENST00000398209.3_Missense_Mutation_p.P849S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACTGAAGGACCATACTTTAG	0.353																																						ENST00000398209.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2545-2547)Cca>Tca		ADAM metallopeptidase domain 22							104.0	100.0	101.0					7																	87816006		1814	4065	5879	SO:0001627	intron_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87816006C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2576+4667C>T	7.37:g.87816006C>T						ADAM22_ENST00000315984.7_Missense_Mutation_p.P849S|ADAM22_ENST00000265727.7_Intron|ADAM22_ENST00000398204.4_Intron	p.P849S	NM_021722.4	NP_068368.2	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		29	2591	+	Esophageal squamous(14;0.00202)		859					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2545C>T	CCDS47637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.553578|2.553578	0.45487|0.45487	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000315984;ENST00000398209;ENST00000426930|ENST00000413139	T;T;T|.	0.45276|.	4.54;4.54;0.9|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.43233|0.43233	0.1238|0.1238	N|N	0.19112|0.19112	0.55|0.55	0.29616|0.29616	N|N	0.846609|0.846609	D|.	0.71674|.	0.998|.	D|.	0.72625|.	0.978|.	T|T	0.35847|0.35847	-0.9772|-0.9772	9|5	0.66056|.	D|.	0.02|.	.|.	18.062|18.062	0.89380|0.89380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	849|.	Q9P0K1-2|.	.|.	S|I	849;849;280|213	ENSP00000315900:P849S;ENSP00000381267:P849S;ENSP00000396233:P280S|.	ENSP00000315900:P849S|.	P|T	+|+	1|2	0|0	ADAM22|ADAM22	87653942|87653942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.521000|5.521000	0.67086|0.67086	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.353	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		38	78	0	0	0	1	0	38	78				
CCDC150	284992	broad.mit.edu	37	2	197540891	197540891	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:197540891A>G	ENST00000389175.4	+	11	1297	c.1162A>G	c.(1162-1164)Aca>Gca	p.T388A	CCDC150_ENST00000272831.7_Missense_Mutation_p.T56A|CCDC150_ENST00000423093.2_Missense_Mutation_p.T56A|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	388										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GATGACGCAGACATTTCAAGA	0.403																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1162-1164)Aca>Gca		coiled-coil domain containing 150							106.0	103.0	104.0					2																	197540891		1899	4131	6030	SO:0001583	missense	284992							g.chr2:197540891A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1162A>G	2.37:g.197540891A>G	ENSP00000373827:p.Thr388Ala					CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.T56A|CCDC150_ENST00000272831.7_Missense_Mutation_p.T56A	p.T388A	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			11	1297	+			388					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1162A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611661	0.28712	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.44083	0.93	5.27	2.94	0.34122	.	0.268520	0.29021	N	0.013396	T	0.31420	0.0796	L	0.51422	1.61	0.22305	N	0.999212	B;B	0.16396	0.007;0.017	B;B	0.12156	0.005;0.007	T	0.22521	-1.0214	10	0.16420	T	0.52	.	7.4061	0.26991	0.8272:0.0:0.1728:0.0	.	56;388	B4DZ03;Q8NCX0	.;CC150_HUMAN	A	56;388;56	ENSP00000373827:T388A	ENSP00000272831:T56A	T	+	1	0	CCDC150	197249136	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	3.708000	0.54845	0.480000	0.27534	0.460000	0.39030	ACA		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		22	41	0	0	0	1	0	22	41				
SYNE1	23345	broad.mit.edu	37	6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A	rs566004273	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587										HNSCC(10;0.0054)			G|||	18	0.00359425	0.0	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.0184					ENST00000367255.5																			0				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						c.(4888-4890)gCg>gTg		spectrin repeat containing, nuclear envelope 1							142.0	143.0	143.0					6																	152749427		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.chr6:152749427G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4889C>T	6.37:g.152749427G>A	ENSP00000356224:p.Ala1630Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V	p.A1630V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5490	-		Ovarian(120;0.0955)	1630					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.4889C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764279	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	1.26;1.26;1.26;1.26;0.65;0.65	5.87	-3.59	0.04583	.	1.567860	0.03778	N	0.260842	T	0.13841	0.0335	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.24092	0.001;0.003;0.009;0.003;0.097	B;B;B;B;B	0.15484	0.001;0.001;0.004;0.001;0.013	T	0.07986	-1.0744	10	0.29301	T	0.29	.	1.7392	0.02948	0.3723:0.0905:0.3194:0.2177	.	1613;1630;1630;1630;1637	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1630;1637;1630;1637;1700;1630	ENSP00000356224:A1630V;ENSP00000396024:A1637V;ENSP00000265368:A1630V;ENSP00000390975:A1637V;ENSP00000341887:A1700V;ENSP00000356222:A1630V	ENSP00000265368:A1630V	A	-	2	0	SYNE1	152791120	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.564000	0.05936	-0.565000	0.06061	-0.122000	0.15005	GCG		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		54	41	0	0	0	1	0	54	41				
BAZ2B	29994	broad.mit.edu	37	2	160182235	160182235	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:160182235C>T	ENST00000392783.2	-	35	6633	c.6138G>A	c.(6136-6138)ttG>ttA	p.L2046L	BAZ2B_ENST00000392782.1_Silent_p.L2010L|BAZ2B_ENST00000355831.2_Silent_p.L2012L|BAZ2B_ENST00000343439.5_Silent_p.L1946L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2046					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTGTTTTGACAAGTTAATAG	0.343																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(6136-6138)ttG>ttA		bromodomain adjacent to zinc finger domain, 2B							158.0	149.0	152.0					2																	160182235		1817	4072	5889	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160182235C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6138G>A	2.37:g.160182235C>T						BAZ2B_ENST00000343439.5_Silent_p.L1946L|BAZ2B_ENST00000355831.2_Silent_p.L2012L|BAZ2B_ENST00000392782.1_Silent_p.L2010L	p.L2046L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			35	6633	-			2046					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.6138G>A	CCDS2209.2																																																																																				0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			19	59	0	0	0	1	0	19	59				
GRIA4	2893	broad.mit.edu	37	11	105483076	105483076	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:105483076C>T	ENST00000530497.1	+	2	162	c.162C>T	c.(160-162)agC>agT	p.S54S	GRIA4_ENST00000393125.2_Silent_p.S54S|GRIA4_ENST00000527669.1_Silent_p.S54S|GRIA4_ENST00000525187.1_Silent_p.S54S|GRIA4_ENST00000393127.2_Silent_p.S54S|GRIA4_ENST00000428631.2_Silent_p.S54S|GRIA4_ENST00000282499.5_Silent_p.S54S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	54				S -> A (in Ref. 1; AAA95962). {ECO:0000305}.	glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATAACACCAGCCCCAATGCGT	0.403																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(160-162)agC>agT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						136.0	119.0	125.0					11																	105483076		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483076C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.162C>T	11.37:g.105483076C>T						GRIA4_ENST00000428631.2_Silent_p.S54S|GRIA4_ENST00000393125.2_Silent_p.S54S|GRIA4_ENST00000527669.1_Silent_p.S54S|GRIA4_ENST00000282499.5_Silent_p.S54S|GRIA4_ENST00000530497.1_Silent_p.S54S|GRIA4_ENST00000525187.1_Silent_p.S54S	p.S54S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	608	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	54	S -> A (in Ref. 1; AAA95962).				Q86XE8	Silent	SNP	ENST00000530497.1	37	c.162C>T	CCDS8333.1																																																																																				0.403	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			16	71	0	0	0	1	0	16	71				
C5orf42	65250	broad.mit.edu	37	5	37176039	37176039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37176039G>A	ENST00000508244.1	-	30	6043	c.5950C>T	c.(5950-5952)Caa>Taa	p.Q1984*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1984*|C5orf42_ENST00000274258.7_Nonsense_Mutation_p.Q864*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1984						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTATCTACTTGCATTGATTGA	0.338																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2590-2592)Caa>Taa		chromosome 5 open reading frame 42							199.0	212.0	208.0					5																	37176039		2203	4300	6503	SO:0001587	stop_gained	65250							g.chr5:37176039G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5950C>T	5.37:g.37176039G>A	ENSP00000421690:p.Gln1984*					C5orf42_ENST00000508244.1_Nonsense_Mutation_p.Q1984*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1984*	p.Q864*			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		31	6177	-	all_lung(31;0.000616)		1984					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	c.2590C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	58	30.683744	0.99977	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.77	1.84	0.25277	.	0.733408	0.12118	N	0.497927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3404	0.11106	0.5796:0.0:0.0873:0.3331	.	.	.	.	X	1984;1984;864;1032;864	.	ENSP00000274258:Q864X	Q	-	1	0	C5orf42	37211796	0.595000	0.26857	0.434000	0.26772	0.010000	0.07245	1.151000	0.31651	0.429000	0.26202	-0.302000	0.09304	CAA		0.338	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		33	72	0	0	0	1	0	33	72				
RBBP9	10741	broad.mit.edu	37	20	18470588	18470588	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:18470588G>A	ENST00000337227.4	-	5	456	c.381C>T	c.(379-381)tgC>tgT	p.C127C	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	127					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CAATGTAAGGGCAGTTGGCCT	0.473																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(379-381)tgC>tgT		retinoblastoma binding protein 9							74.0	72.0	73.0					20																	18470588		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18470588G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.381C>T	20.37:g.18470588G>A						RBBP9_ENST00000493184.1_5'UTR	p.C127C	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			5	456	-			127					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.381C>T	CCDS13136.1																																																																																				0.473	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		16	27	0	0	0	1	0	16	27				
LINC00482	284185	broad.mit.edu	37	17	79278503	79278503	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79278503C>T	ENST00000332012.5	-	0	1090					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		CCCCTTGGCGCTGGCCTTGGC	0.647																																						ENST00000332012.5																			0																				32.0	37.0	35.0					17																	79278503		2027	4158	6185			0							g.chr17:79278503C>T	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278503C>T								NR_038080.1						0	1090	-									RNA	SNP	ENST00000332012.5	37			.	.	.	.	.	.	.	.	.	.	c	4.545	0.101236	0.08731	.	.	ENSG00000185168	ENST00000332012	.	.	.	1.07	1.07	0.20283	.	.	.	.	.	T	0.19087	0.0458	.	.	.	.	.	.	P	0.41041	0.736	B	0.25405	0.06	T	0.24012	-1.0172	6	0.87932	D	0	.	5.6893	0.17821	0.0:1.0:0.0:0.0	.	221	Q8N8I6	CQ055_HUMAN	N	221	.	ENSP00000327588:S221N	S	-	2	0	C17orf55	76893098	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.502000	0.22594	0.952000	0.37798	0.441000	0.28932	AGC		0.647	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		4	7	0	0	0	1	0	4	7				
C1orf106	55765	broad.mit.edu	37	1	200880619	200880619	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:200880619G>A	ENST00000367342.4	+	9	1453	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	C1orf106_ENST00000413687.2_Missense_Mutation_p.R333H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	418										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCCGAGGTCGCAGCGCCTTT	0.672																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1252-1254)cGc>cAc		chromosome 1 open reading frame 106							91.0	116.0	108.0					1																	200880619		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200880619G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1253G>A	1.37:g.200880619G>A	ENSP00000356311:p.Arg418His					C1orf106_ENST00000413687.2_Missense_Mutation_p.R333H	p.R418H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1453	+			418					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1253G>A		.	.	.	.	.	.	.	.	.	.	G	14.75	2.628019	0.46944	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.53640	0.61;0.64	4.59	4.59	0.56863	.	0.509372	0.19865	N	0.104330	T	0.32941	0.0846	N	0.17082	0.46	0.34349	D	0.689685	B	0.09022	0.002	B	0.08055	0.003	T	0.38415	-0.9662	10	0.34782	T	0.22	-13.1477	14.3881	0.66961	0.0:0.0:1.0:0.0	.	418	Q3KP66	CA106_HUMAN	H	418;333	ENSP00000356311:R418H;ENSP00000392105:R333H	ENSP00000356311:R418H	R	+	2	0	C1orf106	199147242	1.000000	0.71417	0.994000	0.49952	0.751000	0.42716	6.189000	0.72051	2.086000	0.62901	0.549000	0.68633	CGC		0.672	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		74	89	0	0	0	1	0	74	89				
CYFIP1	23191	broad.mit.edu	37	15	22990197	22990197	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:22990197C>T	ENST00000313077.7	+	24	2942	c.2817C>T	c.(2815-2817)agC>agT	p.S939S	CYFIP1_ENST00000560848.1_Silent_p.S939S|CYFIP1_ENST00000435939.2_Silent_p.S508S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGTCAAGAGCCTGGTGAGTG	0.572																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2815-2817)agC>agT		cytoplasmic FMR1 interacting protein 1							77.0	74.0	75.0					15																	22990197		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22990197C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2817C>T	15.37:g.22990197C>T						CYFIP1_ENST00000560848.1_Silent_p.S939S|CYFIP1_ENST00000435939.2_Silent_p.S508S	p.S939S	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	24	2942	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	939						Silent	SNP	ENST00000313077.7	37	c.2817C>T	CCDS10009.1																																																																																				0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	45	0	0	0	1	0	7	45				
MDN1	23195	broad.mit.edu	37	6	90428725	90428725	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90428725C>T	ENST00000369393.3	-	42	6197	c.6082G>A	c.(6082-6084)Ggg>Agg	p.G2028R	MDN1_ENST00000428876.1_Missense_Mutation_p.G2028R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2028					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACACAGCTCCCACGGGAAAGG	0.512																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6082-6084)Ggg>Agg		MDN1, midasin homolog (yeast)							65.0	69.0	67.0					6																	90428725		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428725C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6082G>A	6.37:g.90428725C>T	ENSP00000358400:p.Gly2028Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.G2028R	p.G2028R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	42	6197	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2028					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6082G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710515	0.30322	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.63	2.78	0.32641	.	0.284415	0.37393	N	0.002112	T	0.00524	0.0017	N	0.04787	-0.16	0.28651	N	0.906669	B	0.23591	0.088	B	0.26517	0.07	T	0.45264	-0.9273	10	0.12430	T	0.62	.	4.8827	0.13688	0.0:0.5063:0.1548:0.3389	.	2028	Q9NU22	MDN1_HUMAN	R	2028	ENSP00000358400:G2028R;ENSP00000413970:G2028R	ENSP00000358400:G2028R	G	-	1	0	MDN1	90485446	0.896000	0.30565	0.994000	0.49952	0.991000	0.79684	0.775000	0.26689	0.670000	0.31165	0.650000	0.86243	GGG		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	25	0	0	0	1	0	10	25				
P4HTM	54681	broad.mit.edu	37	3	49038923	49038923	+	Silent	SNP	G	G	A	rs143747733	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49038923G>A	ENST00000383729.4	+	3	860	c.489G>A	c.(487-489)gcG>gcA	p.A163A	P4HTM_ENST00000343546.4_Silent_p.A163A	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	163						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TCCATCTGGCGCAGATGAAGG	0.582													G|||	6	0.00119808	0.0	0.0	5008	,	,		20046	0.006		0.0	False		,,,				2504	0.0					ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(487-489)gcG>gcA		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)	G	,	1,4405	2.1+/-5.4	0,1,2202	60.0	53.0	55.0		489,489	-11.9	0.8	3	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	P4HTM	NM_177938.2,NM_177939.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	163/564,163/503	49038923	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49038923G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.489G>A	3.37:g.49038923G>A						P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Silent_p.A163A	p.A163A	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			3	857	+			163					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.489G>A	CCDS43089.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	10.38	1.335462	0.24253	2.27E-4	0.0	ENSG00000178467	ENST00000444213	.	.	.	5.93	-11.9	0.00025	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70132	-0.4956	6	0.72032	D	0.01	-17.1286	7.5835	0.27978	0.2091:0.4877:0.237:0.0662	.	.	.	.	T	115	.	ENSP00000398554:A115T	A	+	1	0	P4HTM	49013927	0.000000	0.05858	0.771000	0.31576	0.989000	0.77384	-3.896000	0.00340	-1.647000	0.01511	-0.302000	0.09304	GCA		0.582	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		15	15	0	0	0	1	0	15	15				
HRH4	59340	broad.mit.edu	37	18	22040736	22040736	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:22040736G>A	ENST00000256906.4	+	1	144	c.44G>A	c.(43-45)cGt>cAt	p.R15H	HRH4_ENST00000426880.2_Missense_Mutation_p.R15H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	15					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)			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)	CTAAGCACTCGTGTTACTTTA	0.343																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(43-45)cGt>cAt		histamine receptor H4	Clozapine(DB00363)						217.0	183.0	195.0					18																	22040736		2202	4299	6501	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22040736G>A	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.44G>A	18.37:g.22040736G>A	ENSP00000256906:p.Arg15His					HRH4_ENST00000426880.2_Missense_Mutation_p.R15H	p.R15H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			1	144	+	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)		15					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.44G>A	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.940005	0.34283	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	5.86	-8.37	0.00976	.	3.664910	0.00575	N	0.000309	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.47841	0.019;0.001;0.901	B;B;B	0.35182	0.002;0.0;0.197	T	0.36696	-0.9737	10	0.38643	T	0.18	21.8006	3.7743	0.08654	0.5613:0.0878:0.1866:0.1642	.	15;15;15	B2KJ49;B2KJ48;Q9H3N8	.;.;HRH4_HUMAN	H	15	ENSP00000256906:R15H;ENSP00000402526:R15H	ENSP00000256906:R15H	R	+	2	0	HRH4	20294734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.445000	0.06845	-1.045000	0.03250	-1.000000	0.02509	CGT		0.343	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			34	57	0	0	0	1	0	34	57				
SUN2	25777	broad.mit.edu	37	22	39144768	39144768	+	Missense_Mutation	SNP	G	G	A	rs142155226	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39144768G>A	ENST00000405510.1	-	8	993	c.635C>T	c.(634-636)aCg>aTg	p.T212M	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.T212M|SUN2_ENST00000411587.2_Missense_Mutation_p.T201M|SUN2_ENST00000405018.1_Missense_Mutation_p.T233M|SUN2_ENST00000216064.4_Missense_Mutation_p.T212M	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	212					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCAGAGGAACGTCTTCAGGGA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		18735	0.002		0.0	False		,,,				2504	0.0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(634-636)aCg>aTg		Sad1 and UNC84 domain containing 2		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	113.0	98.0	103.0		698,635,635	0.7	0.4	22	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	SUN2	NM_001199579.1,NM_001199580.1,NM_015374.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	233/739,212/718,212/718	39144768	1,13005	2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39144768G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.635C>T	22.37:g.39144768G>A	ENSP00000385740:p.Thr212Met					SUN2_ENST00000405018.1_Missense_Mutation_p.T233M|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.T201M|SUN2_ENST00000406622.1_Missense_Mutation_p.T212M|SUN2_ENST00000216064.4_Missense_Mutation_p.T212M	p.T212M	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			8	993	-			212					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.635C>T	CCDS13978.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	G|G	14.01|14.01	2.407140|2.407140	0.42715|0.42715	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.31510	.|2.73;2.73;2.72;2.73;2.72;1.49	4.73|4.73	0.727|0.727	0.18254|0.18254	.|.	.|0.466049	.|0.20359	.|N	.|0.093884	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.14661|0.14661	0.345|0.345	0.20821|0.20821	N|N	0.999846|0.999846	.|B;B;B;B;B	.|0.23650	.|0.089;0.089;0.089;0.03;0.019	.|B;B;B;B;B	.|0.13407	.|0.007;0.007;0.007;0.009;0.007	T|T	0.13656|0.13656	-1.0501|-1.0501	5|10	.|0.66056	.|D	.|0.02	-0.6299|-0.6299	2.1687|2.1687	0.03844|0.03844	0.1089:0.1416:0.4446:0.3048|0.1089:0.1416:0.4446:0.3048	.|.	.|201;247;212;233;212	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	C|M	69|212;212;233;212;201;166	.|ENSP00000385740:T212M;ENSP00000216064:T212M;ENSP00000385616:T233M;ENSP00000383992:T212M;ENSP00000395601:T201M;ENSP00000406941:T166M	.|ENSP00000216064:T212M	R|T	-|-	1|2	0|0	SUN2|SUN2	37474714|37474714	0.258000|0.258000	0.24033|0.24033	0.405000|0.405000	0.26409|0.26409	0.947000|0.947000	0.59692|0.59692	1.054000|1.054000	0.30455|0.30455	0.494000|0.494000	0.27859|0.27859	0.561000|0.561000	0.74099|0.74099	CGT|ACG		0.647	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		23	48	0	0	0	1	0	23	48				
IKBIP	121457	broad.mit.edu	37	12	99020056	99020056	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:99020056G>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.Y262Y|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTTGGGTTCGTAGTCGGAAA	0.408																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(784-786)taC>taT		IKBKB interacting protein							126.0	125.0	125.0					12																	99020056		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020056G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8017C>T	12.37:g.99020056G>A						IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	p.Y262Y	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	1159	-			266					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.786C>T	CCDS9067.1																																																																																				0.408	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		40	61	0	0	0	1	0	40	61				
HBB	3043	broad.mit.edu	37	11	5248219	5248219	+	Silent	SNP	G	G	A	rs67440443|rs35799536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5248219G>A	ENST00000335295.4	-	1	82	c.33C>T	c.(31-33)gcC>gcT	p.A11A	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	11			A -> D (in Ankara; dbSNP:rs33947457). {ECO:0000269|PubMed:4850241}.|A -> V (in Iraq-Halabja). {ECO:0000269|PubMed:10398311}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GGGCAGTAACGGCAGACTTCT	0.498									Sickle Cell Trait		OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CD991743|CS971756	HBB	D|S	rs35799536	c.(31-33)gcC>gcT		hemoglobin, beta	Iron Dextran(DB00893)						158.0	124.0	135.0					11																	5248219		2201	4298	6499	SO:0001819	synonymous_variant	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248219G>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.33C>T	11.37:g.5248219G>A			OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	625		p.A11A	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	208	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	11		A -> D (in Ankara; dbSNP:rs33947457).|A -> V (in Iraq-Halabja).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Silent	SNP	ENST00000335295.4	37	c.33C>T	CCDS7753.1																																																																																				0.498	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		21	24	0	0	0	1	0	21	24				
ERBB2	2064	broad.mit.edu	37	17	37866372	37866372	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37866372G>A	ENST00000269571.5	+	6	836	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ERBB2_ENST00000541774.1_Missense_Mutation_p.R211H|ERBB2_ENST00000578199.1_Missense_Mutation_p.R196H|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.R196H|ERBB2_ENST00000540147.1_Missense_Mutation_p.R196H|ERBB2_ENST00000406381.2_Missense_Mutation_p.R196H|ERBB2_ENST00000584450.1_Missense_Mutation_p.R226H|ERBB2_ENST00000540042.1_Missense_Mutation_p.R196H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	226					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGCTGTGCCCGCTGCAAGGGG	0.652		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(586-588)cGc>cAc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						54.0	56.0	55.0					17																	37866372		2203	4298	6501	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866372G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.677G>A	17.37:g.37866372G>A	ENSP00000269571:p.Arg226His	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Missense_Mutation_p.R226H|ERBB2_ENST00000584601.1_Missense_Mutation_p.R196H|ERBB2_ENST00000541774.1_Missense_Mutation_p.R211H|ERBB2_ENST00000584450.1_Missense_Mutation_p.R226H|ERBB2_ENST00000540042.1_Missense_Mutation_p.R196H|ERBB2_ENST00000540147.1_Missense_Mutation_p.R196H|ERBB2_ENST00000578199.1_Missense_Mutation_p.R196H	p.R196H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1097	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	226					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.587G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686090	0.68157	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.62	5.62	0.85841	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.80088	0.4559	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.993;0.999;0.988	T	0.78892	-0.2025	9	0.40728	T	0.16	.	18.4263	0.90610	0.0:0.0:1.0:0.0	.	196;211;226;226	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	H	196;211;226;196;196	ENSP00000385185:R196H;ENSP00000446466:R211H;ENSP00000269571:R226H;ENSP00000443562:R196H;ENSP00000446382:R196H	ENSP00000269571:R226H	R	+	2	0	ERBB2	35119898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.461000	0.97646	2.648000	0.89879	0.467000	0.42956	CGC		0.652	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			39	50	0	0	0	1	0	39	50				
OR6K3	391114	broad.mit.edu	37	1	158686968	158686968	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158686968G>T	ENST00000368146.1	-	1	985	c.986C>A	c.(985-987)cCt>cAt	p.P329H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P313H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTAACCTCCAGGCTTGTTCAA	0.408																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(985-987)cCt>cAt		olfactory receptor, family 6, subfamily K, member 3							113.0	116.0	115.0					1																	158686968		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686968G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.986C>A	1.37:g.158686968G>T	ENSP00000357128:p.Pro329His					OR6K3_ENST00000368145.1_Missense_Mutation_p.P313H	p.P329H			Q8NGY3	OR6K3_HUMAN			1	985	-	all_hematologic(112;0.0378)		329					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.986C>A		.	.	.	.	.	.	.	.	.	.	G	7.873	0.728582	0.15507	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00003	9.85;9.84	3.08	-1.32	0.09201	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.37304	0.246	T	0.00024	-1.2328	9	0.54805	T	0.06	.	4.059	0.09829	0.2424:0.3836:0.3739:0.0	.	329	Q8NGY3	OR6K3_HUMAN	H	313;329	ENSP00000357127:P313H;ENSP00000357128:P329H	ENSP00000357127:P313H	P	-	2	0	OR6K3	156953592	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.313000	0.08103	-0.269000	0.09298	0.467000	0.42956	CCT		0.408	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				39	61	1	0	2.35958e-20	1	2.61572e-20	39	61				
SLC12A7	10723	broad.mit.edu	37	5	1083909	1083909	+	Silent	SNP	G	G	A	rs371943826		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1083909G>A	ENST00000264930.5	-	8	1123	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	360					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTCGGTGACGTTGTTCTGGA	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15878	0.0		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1078-1080)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		1,4399	2.1+/-5.4	0,1,2199	78.0	76.0	77.0		1080	1.7	1.0	5		77	0,8598		0,0,4299	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		360/1084	1083909	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083909G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1080C>T	5.37:g.1083909G>A							p.N360N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1123	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		360					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1080C>T	CCDS34129.1																																																																																				0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		9	24	0	0	0	1	0	9	24				
TMCC3	57458	broad.mit.edu	37	12	94975899	94975899	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:94975899C>T	ENST00000261226.4	-	2	625	c.494G>A	c.(493-495)cGc>cAc	p.R165H	TMCC3_ENST00000551457.1_Missense_Mutation_p.R134H	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	165						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTTCAAAGAGCGATGTATATC	0.498																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(493-495)cGc>cAc		transmembrane and coiled-coil domain family 3							98.0	101.0	100.0					12																	94975899		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975899C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.494G>A	12.37:g.94975899C>T	ENSP00000261226:p.Arg165His					TMCC3_ENST00000551457.1_Missense_Mutation_p.R134H	p.R165H	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	625	-			165					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.494G>A	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604831	0.28623	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.42131	0.98;0.98	4.65	-1.83	0.07833	.	0.525520	0.23828	N	0.044165	T	0.17577	0.0422	N	0.08118	0	0.22354	N	0.999172	B	0.02656	0.0	B	0.01281	0.0	T	0.09862	-1.0655	10	0.40728	T	0.16	-12.1157	6.176	0.20444	0.0:0.1768:0.2476:0.5756	.	165	Q9ULS5	TMCC3_HUMAN	H	165;134	ENSP00000261226:R165H;ENSP00000449888:R134H	ENSP00000261226:R165H	R	-	2	0	TMCC3	93500030	0.765000	0.28485	0.216000	0.23742	0.796000	0.44982	0.439000	0.21575	-0.305000	0.08831	-0.258000	0.10820	CGC		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		6	85	0	0	0	1	0	6	85				
PITX2	5308	broad.mit.edu	37	4	111553615	111553615	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:111553615T>C	ENST00000354925.2	-	5	1773	c.68A>G	c.(67-69)gAa>gGa	p.E23G	PITX2_ENST00000394598.2_Missense_Mutation_p.E23G|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394595.3_Missense_Mutation_p.E23G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	23					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGAGACATTCAACGGCCGC	0.662																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(67-69)gAa>gGa		paired-like homeodomain 2							51.0	63.0	59.0					4																	111553615		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111553615T>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.68A>G	4.37:g.111553615T>C	ENSP00000347004:p.Glu23Gly					PITX2_ENST00000394598.2_Missense_Mutation_p.E23G|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394595.3_Missense_Mutation_p.E23G	p.E23G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1773	-		Hepatocellular(203;0.217)	23					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.68A>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774815	0.49786	.	.	ENSG00000164093	ENST00000394598;ENST00000354925;ENST00000394595;ENST00000511837	D;D;D	0.93366	-2.99;-2.99;-3.21	4.83	2.23	0.28157	.	.	.	.	.	D	0.85729	0.5764	N	0.19112	0.55	0.20975	N	0.999819	B	0.21688	0.059	B	0.23716	0.048	T	0.72181	-0.4368	9	0.23891	T	0.37	.	7.4983	0.27503	0.0:0.0762:0.1424:0.7815	.	23	Q99697	PITX2_HUMAN	G	23	ENSP00000378097:E23G;ENSP00000347004:E23G;ENSP00000421454:E23G	ENSP00000347004:E23G	E	-	2	0	PITX2	111773064	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	2.105000	0.41825	0.289000	0.22422	0.528000	0.53228	GAA		0.662	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			14	27	0	0	0	1	0	14	27				
CACNA1A	773	broad.mit.edu	37	19	13346502	13346502	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13346502C>T	ENST00000360228.5	-	32	4992	c.4993G>A	c.(4993-4995)Gcc>Acc	p.A1665T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1666T|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1666					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAGCCGGGCAGCTCGGAAG	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4993-4995)Gcc>Acc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						92.0	102.0	99.0					19																	13346502		1986	4166	6152	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13346502C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4993G>A	19.37:g.13346502C>T	ENSP00000353362:p.Ala1665Thr		OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1666T|CACNA1A_ENST00000574822.1_5'UTR	p.A1665T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		32	4992	-			1666					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4993G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716127	0.68844	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98437	-4.93	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.984;1.0;1.0	D;P;D;D	0.91635	0.994;0.828;0.999;0.997	D	0.99797	1.1034	10	0.87932	D	0	.	17.3588	0.87344	0.0:1.0:0.0:0.0	.	1666;1671;1665;1666	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	T	1665;1671;1666;1666	ENSP00000353362:A1665T	ENSP00000317661:A1666T	A	-	1	0	CACNA1A	13207502	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	4.814000	0.62627	2.449000	0.82847	0.655000	0.94253	GCC		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		11	25	0	0	0	1	0	11	25				
ARHGAP8	23779	broad.mit.edu	37	22	45182350	45182350	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45182350C>T	ENST00000389774.2	+	0	84				PRR5-ARHGAP8_ENST00000352766.7_Silent_p.D235D|ARHGAP8_ENST00000356099.6_5'UTR|ARHGAP8_ENST00000517296.3_Silent_p.D235D|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.D112D|ARHGAP8_ENST00000336963.4_5'UTR|ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000389773.5_Silent_p.D103D	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGCAGAGAGACAAGGCGGCGG	0.592																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(703-705)gaC>gaT									19.0	27.0	24.0					22																	45182350		1327	2309	3636	SO:0001623	5_prime_UTR_variant	0							g.chr22:45182350C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.-58C>T	22.37:g.45182350C>T						ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000356099.6_5'UTR|ARHGAP8_ENST00000336963.4_5'UTR|ARHGAP8_ENST00000389773.5_Silent_p.D103D|ARHGAP8_ENST00000517296.3_Silent_p.D235D|ARHGAP8_ENST00000389774.2_5'UTR|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.D112D	p.D235D							8	705	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.705C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327043	0.10900	.	.	ENSG00000248405	ENST00000515632	.	.	.	2.33	-0.0481	0.13840	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26155	-1.0111	4	.	.	.	.	4.5669	0.12191	0.0:0.5205:0.0:0.4795	.	.	.	.	I	35	.	.	T	+	2	0	PRR5-ARHGAP8	43561014	0.078000	0.21339	0.043000	0.18650	0.327000	0.28475	-0.789000	0.04609	-0.023000	0.13963	0.543000	0.68304	ACA		0.592	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		3	0	0	0	0	1	0	3	0				
TMEM87A	25963	broad.mit.edu	37	15	42523405	42523405	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42523405A>G	ENST00000389834.4	-	12	1380	c.1116T>C	c.(1114-1116)acT>acC	p.T372T	TMEM87A_ENST00000448392.1_Silent_p.T311T	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	372						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGCACAAGGCAGTGTCTAGGA	0.448																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1114-1116)acT>acC		transmembrane protein 87A							137.0	116.0	123.0					15																	42523405		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42523405A>G	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1116T>C	15.37:g.42523405A>G						TMEM87A_ENST00000448392.1_Silent_p.T311T	p.T372T	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	12	1380	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	372					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1116T>C	CCDS32205.1																																																																																				0.448	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		5	26	0	0	0	1	0	5	26				
SHBG	6462	broad.mit.edu	37	17	7536652	7536652	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7536652C>T	ENST00000380450.4	+	8	1222	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	SHBG_ENST00000576478.1_Silent_p.G170G|SHBG_ENST00000441599.2_Silent_p.G282G|SHBG_ENST00000416273.3_3'UTR|SHBG_ENST00000570547.1_Silent_p.G224G|SHBG_ENST00000572262.1_Silent_p.G285G|SHBG_ENST00000574539.1_3'UTR|SHBG_ENST00000575314.1_Silent_p.G339G|SHBG_ENST00000572182.1_3'UTR|SHBG_ENST00000576728.1_3'UTR|SHBG_ENST00000575903.1_Silent_p.G379G	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	397					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	CAGGCAATGGCACTGACGCTT	0.493																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(1189-1191)ggC>ggT		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						67.0	59.0	62.0					17																	7536652		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7536652C>T		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.1191C>T	17.37:g.7536652C>T						SHBG_ENST00000575314.1_Silent_p.G339G|SHBG_ENST00000416273.3_3'UTR|SHBG_ENST00000570547.1_Silent_p.G224G|SHBG_ENST00000576478.1_Silent_p.G170G|SHBG_ENST00000572182.1_3'UTR|SHBG_ENST00000574539.1_3'UTR|SHBG_ENST00000572262.1_Silent_p.G285G|SHBG_ENST00000441599.2_Silent_p.G282G|SHBG_ENST00000575903.1_Silent_p.G379G|SHBG_ENST00000576728.1_3'UTR	p.G397G	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	8	1222	+		all_cancers(10;0.0867)	397					B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.1191C>T	CCDS11117.1																																																																																				0.493	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		6	13	0	0	0	1	0	6	13				
CLCN1	1180	broad.mit.edu	37	7	143018815	143018815	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143018815A>G	ENST00000343257.2	+	5	657	c.570A>G	c.(568-570)ggA>ggG	p.G190G	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	190					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAGGCTCTGGAATCCCCGAAA	0.498																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(568-570)ggA>ggG		chloride channel, voltage-sensitive 1							95.0	84.0	87.0					7																	143018815		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018815A>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.570A>G	7.37:g.143018815A>G						CLCN1_ENST00000495612.1_3'UTR	p.G190G	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			5	657	+	Melanoma(164;0.205)		190					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.570A>G	CCDS5881.1																																																																																				0.498	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		9	53	0	0	0	1	0	9	53				
SLC30A7	148867	broad.mit.edu	37	1	101377677	101377677	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101377677G>T	ENST00000370112.4	+	5	581	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	SLC30A7_ENST00000357650.4_Missense_Mutation_p.A132S	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	132					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GAGAGCATTAGCCCCTCCAGA	0.348																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.(394-396)Gcc>Tcc		solute carrier family 30 (zinc transporter), member 7							245.0	234.0	237.0					1																	101377677		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377677G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.394G>T	1.37:g.101377677G>T	ENSP00000359130:p.Ala132Ser					SLC30A7_ENST00000357650.4_Missense_Mutation_p.A132S	p.A132S	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	581	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	132					B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.394G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803651	0.70682	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.61742	0.08;0.08	5.35	5.35	0.76521	.	0.099955	0.64402	D	0.000002	T	0.25901	0.0631	N	0.04018	-0.295	0.47123	D	0.999329	B	0.22746	0.074	B	0.24701	0.055	T	0.09885	-1.0654	10	0.34782	T	0.22	-6.8135	19.4322	0.94775	0.0:0.0:1.0:0.0	.	132	Q8NEW0	ZNT7_HUMAN	S	132	ENSP00000359130:A132S;ENSP00000350278:A132S	ENSP00000350278:A132S	A	+	1	0	SLC30A7	101150265	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.154000	0.94694	2.652000	0.90054	0.603000	0.83216	GCC		0.348	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		68	111	1	0	3.89499e-28	1	4.3593e-28	68	111				
WNT2B	7482	broad.mit.edu	37	1	113058958	113058958	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:113058958G>T	ENST00000369684.4	+	3	1085	c.600G>T	c.(598-600)aaG>aaT	p.K200N	WNT2B_ENST00000256640.5_Missense_Mutation_p.K108N|WNT2B_ENST00000478360.1_3'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.K181N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	200					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTGCCAAGGCCTTCGTGG	0.572																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(598-600)aaG>aaT		wingless-type MMTV integration site family, member 2B							154.0	135.0	142.0					1																	113058958		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113058958G>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.600G>T	1.37:g.113058958G>T	ENSP00000358698:p.Lys200Asn					WNT2B_ENST00000256640.5_Missense_Mutation_p.K108N|WNT2B_ENST00000369686.4_Missense_Mutation_p.K181N|WNT2B_ENST00000478360.1_3'UTR	p.K200N	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1085	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	200					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.600G>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814289	0.70912	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78003	-1.14;-1.14;-1.14	5.63	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.76727	2.345	0.58432	D	0.999999	P;P	0.47191	0.891;0.696	P;P	0.49192	0.602;0.535	T	0.78244	-0.2279	10	0.87932	D	0	.	8.9475	0.35767	0.2397:0.0:0.7603:0.0	.	200;181	Q93097;Q93097-2	WNT2B_HUMAN;.	N	108;181;200	ENSP00000256640:K108N;ENSP00000358700:K181N;ENSP00000358698:K200N	ENSP00000256640:K108N	K	+	3	2	WNT2B	112860481	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.954000	0.29175	1.257000	0.44085	0.561000	0.74099	AAG		0.572	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		5	54	1	0	0.184627	1	0.185007	5	54				
PPP6R2	9701	broad.mit.edu	37	22	50832367	50832367	+	Silent	SNP	G	G	A	rs375618405		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50832367G>A	ENST00000216061.5	+	4	400	c.30G>A	c.(28-30)acG>acA	p.T10T	PPP6R2_ENST00000395744.3_Silent_p.T10T|PPP6R2_ENST00000359139.3_Silent_p.T10T|PPP6R2_ENST00000395741.3_Silent_p.T10T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	10						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGAACACCACGTCCCATGTTG	0.527																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(28-30)acG>acA		protein phosphatase 6, regulatory subunit 2		G	,,,	1,4405	2.1+/-5.4	0,1,2202	161.0	138.0	146.0		30,30,30,30	-1.1	1.0	22		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	10/960,10/934,10/928,10/933	50832367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50832367G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.30G>A	22.37:g.50832367G>A						PPP6R2_ENST00000395741.3_Silent_p.T10T|PPP6R2_ENST00000395744.3_Silent_p.T10T|PPP6R2_ENST00000216061.5_Silent_p.T10T	p.T10T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			3	424	+			10					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.30G>A																																																																																					0.527	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		41	97	0	0	0	1	0	41	97				
TXLNA	200081	broad.mit.edu	37	1	32660568	32660568	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32660568C>T	ENST00000373609.1	+	10	1694	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	TXLNA_ENST00000373610.3_Silent_p.C471C			P40222	TXLNA_HUMAN	taxilin alpha	471					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGAAGCTGTGCCGGGCACTGC	0.577																																						ENST00000373609.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1411-1413)tgC>tgT		taxilin alpha							57.0	63.0	61.0					1																	32660568		2203	4300	6503	SO:0001819	synonymous_variant	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32660568C>T	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1413C>T	1.37:g.32660568C>T						TXLNA_ENST00000373610.3_Silent_p.C471C	p.C471C			P40222	TXLNA_HUMAN			10	1694	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	471					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Silent	SNP	ENST00000373609.1	37	c.1413C>T	CCDS353.1																																																																																				0.577	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		6	56	0	0	0	1	0	6	56				
RAET1G	353091	broad.mit.edu	37	6	150239453	150239453	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:150239453G>A	ENST00000367360.2	-	4	766	c.699C>T	c.(697-699)tgC>tgT	p.C233C	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGATGAGGAGGCAGCAAAGGA	0.597																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(697-699)tgC>tgT		retinoic acid early transcript 1G							263.0	249.0	254.0					6																	150239453		2203	4300	6503	SO:0001819	synonymous_variant	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150239453G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.699C>T	6.37:g.150239453G>A						RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA	p.C233C	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	4	766	-		Ovarian(120;0.0907)	233						Silent	SNP	ENST00000367360.2	37	c.699C>T	CCDS43514.1																																																																																				0.597	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			12	29	0	0	0	1	0	12	29				
SKIV2L2	23517	broad.mit.edu	37	5	54706457	54706457	+	Splice_Site	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54706457T>A	ENST00000230640.5	+	23	3005	c.2751T>A	c.(2749-2751)aaT>aaA	p.N917K	SKIV2L2_ENST00000545714.1_Splice_Site_p.N816K	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	917					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTCAAGAGAATGTAAGTTAAT	0.303																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e23+1		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							155.0	139.0	144.0					5																	54706457		2203	4300	6503	SO:0001630	splice_region_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54706457T>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2751+1T>A	5.37:g.54706457T>A						SKIV2L2_ENST00000545714.1_Splice_Site_p.N816_splice	p.N917_splice	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			23	3005	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	917					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	ENST00000230640.5	37	c.2751_splice	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	3.094	-0.186320	0.06340	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.19532	2.14;2.14	5.1	2.68	0.31781	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	N	0.00317	-1.655	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.40001	-0.9586	10	0.02654	T	1	-10.8767	9.5339	0.39211	0.0:0.1458:0.0:0.8542	.	816;917	F5H7E2;P42285	.;SK2L2_HUMAN	K	917;816	ENSP00000230640:N917K;ENSP00000442583:N816K	ENSP00000230640:N917K	N	+	3	2	SKIV2L2	54742214	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.099000	0.31013	0.353000	0.24079	-0.376000	0.06991	AAT		0.303	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		Missense_Mutation	5	66	0	0	0	1	0	5	66				
ASB16	92591	broad.mit.edu	37	17	42248207	42248207	+	Missense_Mutation	SNP	G	G	A	rs144140141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42248207G>A	ENST00000293414.1	+	1	134	c.50G>A	c.(49-51)cGc>cAc	p.R17H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	17					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCTCTCTCCGCCTGCAGCAG	0.697																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(49-51)cGc>cAc		ankyrin repeat and SOCS box containing 16		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	33.0	32.0	32.0		50	4.3	1.0	17	dbSNP_134	32	0,8600		0,0,4300	no	missense	ASB16	NM_080863.4	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	17/454	42248207	3,13003	2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248207G>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.50G>A	17.37:g.42248207G>A	ENSP00000293414:p.Arg17His						p.R17H	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	134	+		Breast(137;0.00765)|Prostate(33;0.0313)	17					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.50G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291003	0.59976	6.81E-4	0.0	ENSG00000161664	ENST00000293414	T	0.67523	-0.27	5.26	4.29	0.51040	.	0.048787	0.85682	D	0.000000	T	0.38480	0.1042	N	0.08118	0	0.51233	D	0.999917	P	0.38788	0.647	B	0.23275	0.045	T	0.47341	-0.9125	10	0.72032	D	0.01	-23.7035	9.5022	0.39024	0.1632:0.0:0.8368:0.0	.	17	Q96NS5	ASB16_HUMAN	H	17	ENSP00000293414:R17H	ENSP00000293414:R17H	R	+	2	0	ASB16	39603733	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.586000	0.60984	1.450000	0.47717	0.561000	0.74099	CGC		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			15	17	0	0	0	1	0	15	17				
IGLV7-46	28775	broad.mit.edu	37	22	22724400	22724400	+	RNA	SNP	C	C	T	rs376941672		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22724400C>T	ENST00000390295.2	+	0	330									immunoglobulin lambda variable 7-46 (gene/pseudogene)																		CTTTTGGGTGCGCAGCCTGAG	0.542																																						ENST00000390295.2																			0															T		1,3905		0,1,1952	42.0	42.0	42.0			-3.1	0.0	22		42	0,8262		0,0,4131	no	intergenic				0,1,6083	TT,TC,CC		0.0,0.0256,0.0082			22724400	1,12167	1953	4131	6084			0							g.chr22:22724400C>T	Z73674		22q11.2	2012-02-08	2008-09-12		ENSG00000211649	ENSG00000211649		"""Immunoglobulins / IGL locus"""	5930	other	immunoglobulin gene			"""immunoglobulin lambda variable 7-46"""				Standard	NG_000002		Approved				OTTHUMG00000151040		22.37:g.22724400C>T														0	330	+									RNA	SNP	ENST00000390295.2	37																																																																																						0.542	IGLV7-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321099.1	NG_000002		12	17	0	0	0	1	0	12	17				
CD28	940	broad.mit.edu	37	2	204591557	204591557	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204591557A>G	ENST00000324106.8	+	2	403	c.254A>G	c.(253-255)aAc>aGc	p.N85S	CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.N99S	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	85	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACGGGGTTCAACTGTGATGGG	0.408																																						ENST00000324106.7																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(253-255)aAc>aGc		CD28 molecule							133.0	127.0	129.0					2																	204591557		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591557A>G	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.254A>G	2.37:g.204591557A>G	ENSP00000324890:p.Asn85Ser					CD28_ENST00000458610.2_Missense_Mutation_p.N99S|CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron	p.N85S	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN			2	403	+			85			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.254A>G	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032618	0.19590	.	.	ENSG00000178562	ENST00000458610;ENST00000324106	T;T	0.37411	1.2;1.2	5.89	0.758	0.18432	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.839211	0.11182	N	0.590803	T	0.29061	0.0722	L	0.59912	1.85	0.80722	D	1	B	0.20052	0.041	B	0.15870	0.014	T	0.08086	-1.0739	10	0.20519	T	0.43	-1.0559	5.6029	0.17363	0.6563:0.1317:0.212:0.0	.	85	P10747	CD28_HUMAN	S	99;85	ENSP00000393648:N99S;ENSP00000324890:N85S	ENSP00000324890:N85S	N	+	2	0	CD28	204299802	1.000000	0.71417	0.899000	0.35326	0.698000	0.40448	0.939000	0.28978	0.139000	0.18822	0.459000	0.35465	AAC		0.408	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		29	42	0	0	0	1	0	29	42				
MLLT10	8028	broad.mit.edu	37	10	21959520	21959520	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21959520C>T	ENST00000307729.7	+	10	1116	c.938C>T	c.(937-939)tCa>tTa	p.S313L	MLLT10_ENST00000377059.3_Missense_Mutation_p.S313L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S313L|MLLT10_ENST00000377072.3_Missense_Mutation_p.S313L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	313	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACTAGAGGGTCAGAGGGCAAA	0.473			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(937-939)tCa>tTa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							75.0	72.0	73.0					10																	21959520		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21959520C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.938C>T	10.37:g.21959520C>T	ENSP00000307411:p.Ser313Leu					MLLT10_ENST00000307729.7_Missense_Mutation_p.S313L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S313L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S313L	p.S313L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			10	1286	+			313			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.938C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824593	0.90955	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.17054	2.3;2.31;2.3;2.31	5.71	5.71	0.89125	.	0.741422	0.13084	N	0.415036	T	0.32971	0.0847	M	0.63843	1.955	0.80722	D	1	P;P;B;P	0.39480	0.675;0.651;0.421;0.651	P;B;B;B	0.46076	0.503;0.165;0.115;0.214	T	0.04078	-1.0979	10	0.66056	D	0.02	.	19.8405	0.96681	0.0:1.0:0.0:0.0	.	159;313;313;313	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	313;313;313;159;313;53;52	ENSP00000366272:S313L;ENSP00000401406:S313L;ENSP00000307411:S313L;ENSP00000366258:S313L	ENSP00000307411:S313L	S	+	2	0	MLLT10	21999526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.561000	0.60809	2.689000	0.91719	0.655000	0.94253	TCA		0.473	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			18	32	0	0	0	1	0	18	32				
BCKDHA	593	broad.mit.edu	37	19	41931655	41931655	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41931655G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Silent_p.A343A	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCAGGCCCAGGGCTCGGATGC	0.687																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1027-1029)gcC>gcT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							32.0	36.0	35.0					19																	41931655		2199	4294	6493	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931655G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931655G>A						CTC-435M10.6_ENST00000598887.1_RNA	p.A343A	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1482	-			343					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.1029C>T	CCDS12581.1																																																																																				0.687	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		17	22	0	0	0	1	0	17	22				
SLC30A3	7781	broad.mit.edu	37	2	27481120	27481120	+	Silent	SNP	C	C	T	rs372422099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27481120C>T	ENST00000233535.4	-	3	685	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SLC30A3_ENST00000447008.2_Silent_p.A106A	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	111					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACATCCGCCAGCAAGT	0.592																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(331-333)gcG>gcA		solute carrier family 30 (zinc transporter), member 3		C		1,4405	2.1+/-5.4	0,1,2202	47.0	48.0	47.0		333	-11.0	0.1	2		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC30A3	NM_003459.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		111/389	27481120	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481120C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.333G>A	2.37:g.27481120C>T						SLC30A3_ENST00000447008.2_Silent_p.A106A	p.A111A	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			3	685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		111					Q8TC03	Silent	SNP	ENST00000233535.4	37	c.333G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844316	0.16963	2.27E-4	1.16E-4	ENSG00000115194	ENST00000445870	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53940	-0.8367	4	.	.	.	-13.4629	7.0504	0.25069	0.0948:0.1903:0.0788:0.6361	.	.	.	.	R	100	.	.	G	-	1	0	SLC30A3	27334624	0.000000	0.05858	0.144000	0.22314	0.925000	0.55904	-9.000000	0.00014	-2.595000	0.00454	-0.993000	0.02533	GGA		0.592	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			9	11	0	0	0	1	0	9	11				
NR4A2	4929	broad.mit.edu	37	2	157186101	157186101	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:157186101C>T	ENST00000339562.4	-	3	960	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	NR4A2_ENST00000409572.1_Missense_Mutation_p.V200I|NR4A2_ENST00000429376.1_Missense_Mutation_p.V137I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V137I|NR4A2_ENST00000409108.2_Missense_Mutation_p.V200I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V211I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	200	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTCATGGGGACGTGCAGGGGC	0.667																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(598-600)Gtc>Atc		nuclear receptor subfamily 4, group A, member 2							32.0	42.0	39.0					2																	157186101		2195	4294	6489	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186101C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.598G>A	2.37:g.157186101C>T	ENSP00000344479:p.Val200Ile					NR4A2_ENST00000409108.2_Missense_Mutation_p.V200I|NR4A2_ENST00000409572.1_Missense_Mutation_p.V200I|NR4A2_ENST00000429376.1_Missense_Mutation_p.V137I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V211I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V137I	p.V200I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	960	-			200			Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.598G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509142	0.64410	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077	D;D;D;D;D;D;T	0.91945	-2.73;-2.76;-2.73;-2.74;-2.94;-2.84;-1.08	5.72	5.72	0.89469	.	.	.	.	.	D	0.89192	0.6645	L	0.47716	1.5	0.58432	D	0.999991	B	0.26147	0.143	B	0.12837	0.008	D	0.85043	0.0924	9	0.21014	T	0.42	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	200	P43354	NR4A2_HUMAN	I	200;137;200;211;200;137;200	ENSP00000344479:V200I;ENSP00000389986:V137I;ENSP00000386747:V200I;ENSP00000444925:V211I;ENSP00000386993:V200I;ENSP00000410952:V137I;ENSP00000406808:V200I	ENSP00000344479:V200I	V	-	1	0	NR4A2	156894347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.010000	0.57117	2.691000	0.91804	0.655000	0.94253	GTC		0.667	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			22	35	0	0	0	1	0	22	35				
RBFOX1	54715	broad.mit.edu	37	16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:7568267C>T	ENST00000550418.1	+	5	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A54V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(160-162)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							116.0	113.0	114.0					16																	7568267		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568267C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.146C>T	16.37:g.7568267C>T	ENSP00000450031:p.Ala49Val					RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V	p.A54V			Q9NWB1	RFOX1_HUMAN			2	458	+			49					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.161C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044648	0.75732	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.84;1.38;1.7;1.66;1.67;1.77;1.38;1.44;1.61;1.58;1.33	4.85	4.85	0.62838	.	0.296529	0.32244	N	0.006367	T	0.28532	0.0706	N	0.08118	0	0.44359	D	0.997252	P;D;P;P;B;D;B;B;D	0.62365	0.533;0.991;0.936;0.759;0.278;0.985;0.24;0.351;0.969	B;P;B;B;B;B;B;B;P	0.47891	0.091;0.481;0.173;0.245;0.157;0.352;0.065;0.109;0.56	T	0.23797	-1.0178	10	0.46703	T	0.11	-2.3794	17.9952	0.89181	0.0:1.0:0.0:0.0	.	69;85;92;69;69;69;49;49;92	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	49;49;49;92;92;85;85;49;49;69;69;69;69;54	ENSP00000450402:A49V;ENSP00000450031:A49V;ENSP00000447753:A49V;ENSP00000446842:A92V;ENSP00000391269:A92V;ENSP00000447281:A49V;ENSP00000447717:A49V;ENSP00000402745:A69V;ENSP00000309117:A69V;ENSP00000347855:A69V;ENSP00000344196:A54V	ENSP00000309117:A69V	A	+	2	0	RBFOX1	7508268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.970000	0.76099	2.222000	0.72286	0.557000	0.71058	GCG		0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		6	92	0	0	0	1	0	6	92				
ZDHHC7	55625	broad.mit.edu	37	16	85015549	85015549	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:85015549G>A	ENST00000313732.4	-	4	719	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	ZDHHC7_ENST00000564466.1_Silent_p.L160L|ZDHHC7_ENST00000569488.1_Intron	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	123					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						CCGGGCTTCAGCTGCAAGCTC	0.493																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(367-369)Ctg>Ttg		zinc finger, DHHC-type containing 7							144.0	152.0	150.0					16																	85015549		2199	4300	6499	SO:0001819	synonymous_variant	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85015549G>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.367C>T	16.37:g.85015549G>A						ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Silent_p.L160L	p.L123L	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			4	719	-			123					D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	ENST00000313732.4	37	c.367C>T	CCDS10950.1																																																																																				0.493	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		47	74	0	0	0	1	0	47	74				
CD28	940	broad.mit.edu	37	2	204591691	204591691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204591691G>T	ENST00000324106.8	+	2	537	c.388G>T	c.(388-390)Gga>Tga	p.G130*	CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Nonsense_Mutation_p.G46*|CD28_ENST00000458610.2_Nonsense_Mutation_p.G144*	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	130	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GAAGAGCAATGGAACCATTAT	0.373																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(136-138)Gga>Tga		CD28 molecule							54.0	52.0	53.0					2																	204591691		2203	4300	6503	SO:0001587	stop_gained	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591691G>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.388G>T	2.37:g.204591691G>T	ENSP00000324890:p.Gly130*					CD28_ENST00000458610.2_Nonsense_Mutation_p.G144*|CD28_ENST00000374478.4_Intron|CD28_ENST00000324106.7_Nonsense_Mutation_p.G130*	p.G46*			P10747	CD28_HUMAN			3	358	+			130			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Nonsense_Mutation	SNP	ENST00000324106.8	37	c.136G>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888179	0.97068	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.3167	17.5042	0.87740	0.0:0.0:1.0:0.0	.	.	.	.	X	46;144;130	.	ENSP00000324890:G130X	G	+	1	0	CD28	204299936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.069000	0.71209	2.677000	0.91161	0.561000	0.74099	GGA		0.373	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		17	26	1	0	6.94344e-10	1	7.39541e-10	17	26				
LRRC37A2	474170	broad.mit.edu	37	17	44626192	44626192	+	Silent	SNP	C	C	T	rs376097433	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44626192C>T	ENST00000576629.1	+	10	4182	c.3687C>T	c.(3685-3687)aaC>aaT	p.N1229N	LRRC37A2_ENST00000333412.3_Silent_p.N1229N|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1229						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAGCGGGAAACGCCGTCTACA	0.592													c|||	2	0.000399361	0.0	0.0	5008	,	,		26908	0.001		0.0	False		,,,				2504	0.001					ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(3685-3687)aaC>aaT		leucine rich repeat containing 37, member A2		C	,	1,4371	2.1+/-5.4	0,1,2185	57.0	97.0	84.0		3687,	0.8	0.0	17		84	0,8598		0,0,4299	no	coding-synonymous,intron	ARL17A,LRRC37A2	NM_001006607.2,NM_016632.2	,	0,1,6484	TT,TC,CC		0.0,0.0229,0.0077	,	1229/1701,	44626192	1,12969	2186	4299	6485	SO:0001819	synonymous_variant	474170					integral to membrane		g.chr17:44626192C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3687C>T	17.37:g.44626192C>T						ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Silent_p.N1229N	p.N1229N			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4182	+		Melanoma(429;0.211)	1229					B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.3687C>T	CCDS42353.1																																																																																				0.592	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		4	128	0	0	0	1	0	4	128				
TLR1	7096	broad.mit.edu	37	4	38798902	38798902	+	Silent	SNP	C	C	T	rs199539854		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:38798902C>T	ENST00000502213.2	-	3	1780	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Silent_p.R517R			Q15399	TLR1_HUMAN	toll-like receptor 1	517					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTTTATTGACCTCATCTTCT	0.443																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1549-1551)agG>agA		toll-like receptor 1							163.0	171.0	168.0					4																	38798902		2203	4298	6501	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798902C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1551G>A	4.37:g.38798902C>T						TLR1_ENST00000502213.2_Silent_p.R517R	p.R517R	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1824	-			517					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1551G>A	CCDS33973.1																																																																																				0.443	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			81	113	0	0	0	1	0	81	113				
UGGT1	56886	broad.mit.edu	37	2	128896335	128896335	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128896335G>T	ENST00000259253.6	+	16	1675	c.1628G>T	c.(1627-1629)gGg>gTg	p.G543V	UGGT1_ENST00000375990.3_Missense_Mutation_p.G519V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	543					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTTGATGGGATGCAAGAT	0.378																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1555-1557)gGg>gTg		UDP-glucose glycoprotein glucosyltransferase 1							163.0	156.0	159.0					2																	128896335		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128896335G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1628G>T	2.37:g.128896335G>T	ENSP00000259253:p.Gly543Val					UGGT1_ENST00000259253.6_Missense_Mutation_p.G543V	p.G519V			Q9NYU2	UGGG1_HUMAN			16	1959	+			543					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1556G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210453	0.58343	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.51574	0.7;0.7	5.1	4.19	0.49359	.	0.047075	0.85682	N	0.000000	T	0.62196	0.2408	M	0.85777	2.775	0.80722	D	1	D;P	0.56968	0.978;0.73	P;B	0.51918	0.684;0.205	T	0.66799	-0.5832	10	0.33940	T	0.23	.	14.908	0.70735	0.0:0.0:0.8555:0.1445	.	519;543	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	519;543	ENSP00000365158:G519V;ENSP00000259253:G543V	ENSP00000259253:G543V	G	+	2	0	UGGT1	128612805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.097000	0.76967	1.217000	0.43442	0.650000	0.86243	GGG		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		43	69	1	0	1.62957e-23	1	1.81649e-23	43	69				
MIS18BP1	55320	broad.mit.edu	37	14	45687566	45687566	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45687566T>C	ENST00000310806.4	-	12	3219	c.2761A>G	c.(2761-2763)Aaa>Gaa	p.K921E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	921	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCATGTATTTCCTCTGGCAT	0.448																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2761-2763)Aaa>Gaa		MIS18 binding protein 1							122.0	118.0	119.0					14																	45687566		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687566T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2761A>G	14.37:g.45687566T>C	ENSP00000309790:p.Lys921Glu						p.K921E	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			12	3219	-			921			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2761A>G	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336363	0.81801	.	.	ENSG00000129534	ENST00000310806	T	0.47869	0.83	5.41	5.41	0.78517	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.088100	0.85682	D	0.000000	T	0.58293	0.2112	M	0.74881	2.28	0.48135	D	0.999598	P	0.42584	0.784	P	0.48304	0.573	T	0.63829	-0.6548	10	0.72032	D	0.01	-23.1883	13.4001	0.60879	0.0:0.0:0.0:1.0	.	921	Q6P0N0	M18BP_HUMAN	E	921	ENSP00000309790:K921E	ENSP00000309790:K921E	K	-	1	0	MIS18BP1	44757316	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	2.668000	0.46816	2.059000	0.61396	0.477000	0.44152	AAA		0.448	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			56	65	0	0	0	1	0	56	65				
SLC25A2	83884	broad.mit.edu	37	5	140683225	140683225	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140683225C>T	ENST00000239451.4	-	1	387	c.208G>A	c.(208-210)Gca>Aca	p.A70T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	70					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCCATAAGTGCCGGGCCGGTG	0.577																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(208-210)Gca>Aca		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						78.0	77.0	78.0					5																	140683225		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683225C>T	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.208G>A	5.37:g.140683225C>T	ENSP00000239451:p.Ala70Thr						p.A70T	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	387	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	70					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.208G>A	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978541	0.53720	.	.	ENSG00000120329	ENST00000239451	T	0.78003	-1.14	3.72	2.85	0.33270	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	T	0.81059	0.4744	L	0.43554	1.36	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81317	-0.0987	10	0.87932	D	0	-1.2168	9.483	0.38913	0.0:0.8923:0.0:0.1077	.	70	Q9BXI2	ORNT2_HUMAN	T	70	ENSP00000239451:A70T	ENSP00000239451:A70T	A	-	1	0	SLC25A2	140663409	1.000000	0.71417	0.023000	0.16930	0.018000	0.09664	6.932000	0.75869	1.172000	0.42781	0.585000	0.79938	GCA		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		38	32	0	0	0	1	0	38	32				
BRPF3	27154	broad.mit.edu	37	6	36168828	36168828	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36168828C>T	ENST00000357641.6	+	2	982	c.729C>T	c.(727-729)tgC>tgT	p.C243C	BRPF3_ENST00000543502.1_Silent_p.C243C|BRPF3_ENST00000443324.2_Silent_p.C243C|BRPF3_ENST00000534400.1_Silent_p.C243C|BRPF3_ENST00000534694.1_Silent_p.C243C|BRPF3_ENST00000339717.7_Silent_p.C243C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	243					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACCAGGAGTGCTATGGCGTCC	0.537																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(727-729)tgC>tgT		bromodomain and PHD finger containing, 3							107.0	95.0	99.0					6																	36168828		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168828C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.729C>T	6.37:g.36168828C>T						BRPF3_ENST00000534400.1_Silent_p.C243C|BRPF3_ENST00000543502.1_Silent_p.C243C|BRPF3_ENST00000339717.7_Silent_p.C243C|BRPF3_ENST00000443324.2_Silent_p.C243C|BRPF3_ENST00000534694.1_Silent_p.C243C	p.C243C	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	982	+			243					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.729C>T	CCDS34437.1																																																																																				0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		14	26	0	0	0	1	0	14	26				
LYPD3	27076	broad.mit.edu	37	19	43965686	43965686	+	Silent	SNP	G	G	A	rs34879346		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43965686G>A	ENST00000244333.3	-	5	946	c.858C>T	c.(856-858)caC>caT	p.H286H		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	286					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGGAGGCCTCGTGTTCTACTC	0.632																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(856-858)caC>caT		LY6/PLAUR domain containing 3							92.0	93.0	93.0					19																	43965686		2203	4300	6503	SO:0001819	synonymous_variant	27076					anchored to plasma membrane		g.chr19:43965686G>A	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.858C>T	19.37:g.43965686G>A							p.H286H	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			5	946	-		Prostate(69;0.0153)	286					Q9UJ74	Silent	SNP	ENST00000244333.3	37	c.858C>T	CCDS12620.1																																																																																				0.632	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		24	33	0	0	0	1	0	24	33				
BACE2	25825	broad.mit.edu	37	21	42622768	42622768	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:42622768C>T	ENST00000330333.6	+	7	1537	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	BACE2_ENST00000328735.6_Silent_p.I358I|BACE2_ENST00000347667.5_Intron|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	358					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TCCCTAAAATCTCCATCTACC	0.463																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1072-1074)atC>atT		beta-site APP-cleaving enzyme 2							123.0	104.0	111.0					21																	42622768		2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42622768C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1074C>T	21.37:g.42622768C>T						BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Silent_p.I358I|BACE2_ENST00000347667.4_Intron	p.I358I	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			7	1537	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	358					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1074C>T	CCDS13668.1																																																																																				0.463	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			31	17	0	0	0	1	0	31	17				
COL7A1	1294	broad.mit.edu	37	3	48617238	48617238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48617238C>A	ENST00000328333.8	-	57	5241	c.5134G>T	c.(5134-5136)Gga>Tga	p.G1712*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1712*|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1712	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1712R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCAGGTCCTGTGTCTACC	0.577																																						ENST00000328333.8																			1	Substitution - Missense(1)	p.G1712R(1)	skin(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5134-5136)Gga>Tga		collagen, type VII, alpha 1							68.0	74.0	72.0					3																	48617238		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48617238C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5134G>T	3.37:g.48617238C>A	ENSP00000332371:p.Gly1712*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1712*	p.G1712*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	57	5241	-			1712			Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.5134G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	42	9.409821	0.99163	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.49	3.62	0.41486	.	0.320881	0.21898	N	0.067497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.809	0.29219	0.0:0.7468:0.1629:0.0904	.	.	.	.	X	1712	.	ENSP00000332371:G1712X	G	-	1	0	COL7A1	48592242	0.073000	0.21202	0.003000	0.11579	0.055000	0.15305	3.973000	0.56845	1.264000	0.44198	-0.136000	0.14681	GGA		0.577	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		29	35	1	0	4.74835e-14	1	5.17254e-14	29	35				
BARD1	580	broad.mit.edu	37	2	215645655	215645655	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:215645655G>A	ENST00000260947.4	-	4	1077	c.943C>T	c.(943-945)Cca>Tca	p.P315S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P171S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	315					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTAATGGCAAAGATTTC	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(943-945)Cca>Tca		BRCA1 associated RING domain 1							85.0	85.0	85.0					2																	215645655		2203	4299	6502	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645655G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.943C>T	2.37:g.215645655G>A	ENSP00000260947:p.Pro315Ser					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P171S	p.P315S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1077	-		Renal(323;0.0243)	315					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.943C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238327	0.22711	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72942	-0.7;-0.14	5.25	-0.277	0.12898	.	0.444056	0.23975	N	0.042733	T	0.56834	0.2012	L	0.56769	1.78	0.09310	N	1	B;B	0.24426	0.103;0.022	B;B	0.24848	0.056;0.005	T	0.46857	-0.9161	10	0.40728	T	0.16	-0.1428	0.8746	0.01221	0.1831:0.2627:0.2873:0.2668	.	171;315	E7EUI3;Q99728	.;BARD1_HUMAN	S	315;171	ENSP00000260947:P315S;ENSP00000406752:P171S	ENSP00000260947:P315S	P	-	1	0	BARD1	215353900	0.202000	0.23423	0.002000	0.10522	0.006000	0.05464	0.855000	0.27805	-0.277000	0.09193	-0.136000	0.14681	CCA		0.398	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		31	74	0	0	0	1	0	31	74				
LRIT2	340745	broad.mit.edu	37	10	85984361	85984361	+	Missense_Mutation	SNP	C	C	T	rs151197977		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:85984361C>T	ENST00000372113.4	-	2	625	c.620G>A	c.(619-621)cGc>cAc	p.R207H	LRIT2_ENST00000538192.1_Missense_Mutation_p.R207H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	207	LRRCT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCCCTTAGGCGACAGTCACA	0.582																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(619-621)cGc>cAc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2		C	HIS/ARG	0,4406		0,0,2203	61.0	62.0	62.0		620	2.7	0.4	10	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	no	missense	LRIT2	NM_001017924.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	207/551	85984361	3,13003	2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85984361C>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.620G>A	10.37:g.85984361C>T	ENSP00000361185:p.Arg207His					LRIT2_ENST00000538192.1_Missense_Mutation_p.R207H	p.R207H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	625	-			207			LRRCT.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.620G>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304003	0.60305	0.0	3.49E-4	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.52754	0.65;0.65	6.06	2.65	0.31530	Cysteine-rich flanking region, C-terminal (1);	0.049641	0.85682	D	0.000000	T	0.40570	0.1122	L	0.45352	1.415	0.58432	D	0.99999	D;P	0.58620	0.983;0.914	P;B	0.44394	0.448;0.369	T	0.26780	-1.0093	10	0.44086	T	0.13	.	11.0177	0.47698	0.0:0.7489:0.0:0.2511	.	207;207	B7ZME6;A6NDA9	.;LRIT2_HUMAN	H	207	ENSP00000361185:R207H;ENSP00000438264:R207H	ENSP00000361185:R207H	R	-	2	0	LRIT2	85974341	0.999000	0.42202	0.442000	0.26870	0.995000	0.86356	1.985000	0.40668	0.824000	0.34613	0.655000	0.94253	CGC		0.582	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		11	20	0	0	0	1	0	11	20				
TLR7	51284	broad.mit.edu	37	X	12906105	12906105	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12906105C>T	ENST00000380659.3	+	3	2617	c.2478C>T	c.(2476-2478)atC>atT	p.I826I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	826					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAAGTGTGATCTCCCTGGATC	0.478																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2476-2478)atC>atT		toll-like receptor 7	Imiquimod(DB00724)						193.0	154.0	167.0					X																	12906105		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906105C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2478C>T	X.37:g.12906105C>T							p.I826I	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2617	+			826					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2478C>T	CCDS14151.1																																																																																				0.478	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		40	14	0	0	0	1	0	40	14				
NPFF	8620	broad.mit.edu	37	12	53900561	53900561	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53900561C>T	ENST00000267017.3	-	3	504	c.341G>A	c.(340-342)tGa>tAa	p.*114*	RP11-793H13.10_ENST00000591834.1_3'UTR|NPFF_ENST00000609999.1_Silent_p.*117*	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	0					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GATGACATGTCACTTCTTCCC	0.522																																						ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(340-342)tGa>tAa		neuropeptide FF-amide peptide precursor							98.0	93.0	95.0					12																	53900561		2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53900561C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.341G>A	12.37:g.53900561C>T						RP11-793H13.10_ENST00000591834.1_3'UTR	p.*114*	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			3	504	-			0					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.341G>A	CCDS8862.1																																																																																				0.522	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		13	57	0	0	0	1	0	13	57				
HRAS	3265	broad.mit.edu	37	11	534269	534269	+	Silent	SNP	C	C	T	rs148380285		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:534269C>T	ENST00000451590.1	-	2	241	c.54G>A	c.(52-54)gcG>gcA	p.A18A	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Silent_p.A18A|HRAS_ENST00000311189.7_Silent_p.A18A|HRAS_ENST00000397594.1_Silent_p.A18A|HRAS_ENST00000397596.2_Silent_p.A18A	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	18					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGATGGTCAGCGCACTCTTGC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			c|||	1	0.000199681	0.0	0.0	5008	,	,		17226	0.0		0.001	False		,,,				2504	0.0					ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(52-54)gcG>gcA		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)	C	,,	1,4403	2.1+/-5.4	0,1,2201	114.0	104.0	108.0		54,54,54	-1.8	1.0	11	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	HRAS	NM_001130442.1,NM_005343.2,NM_176795.3	,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	18/190,18/190,18/171	534269	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534269C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.54G>A	11.37:g.534269C>T		HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Silent_p.A18A|HRAS_ENST00000397596.2_Silent_p.A18A|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Silent_p.A18A|HRAS_ENST00000311189.7_Silent_p.A18A	p.A18A	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	241	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	18					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Silent	SNP	ENST00000451590.1	37	c.54G>A	CCDS7698.1																																																																																				0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		4	41	0	0	0	1	0	4	41				
TCEA3	6920	broad.mit.edu	37	1	23735189	23735189	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23735189G>T	ENST00000450454.2	-	5	517	c.411C>A	c.(409-411)gcC>gcA	p.A137A	TCEA3_ENST00000461794.1_Silent_p.A100A|TCEA3_ENST00000374601.3_Silent_p.A137A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	137	Ser-rich.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GAGAGGAGGAGGCAGAAGACT	0.478																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(409-411)gcC>gcA		transcription elongation factor A (SII), 3							105.0	102.0	103.0					1																	23735189		1918	4134	6052	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23735189G>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.411C>A	1.37:g.23735189G>T						TCEA3_ENST00000461794.1_Silent_p.A100A|TCEA3_ENST00000374601.3_Silent_p.A137A	p.A137A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	5	517	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	137			Ser-rich.		A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.411C>A	CCDS44086.1																																																																																				0.478	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		6	9	1	0	0.00116845	1	0.0011864	6	9				
TCP11L1	55346	broad.mit.edu	37	11	33080601	33080601	+	Silent	SNP	C	C	T	rs77360478	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:33080601C>T	ENST00000334274.4	+	6	1135	c.735C>T	c.(733-735)taC>taT	p.Y245Y	TCP11L1_ENST00000432887.1_Silent_p.Y245Y|TCP11L1_ENST00000531632.2_Silent_p.Y245Y|TCP11L1_ENST00000324357.9_Silent_p.Y24Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	245						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGTTGAATACGAAAGGAAGA	0.388													C|||	5	0.000998403	0.0	0.0	5008	,	,		18548	0.005		0.0	False		,,,				2504	0.0					ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(733-735)taC>taT		t-complex 11, testis-specific-like 1							150.0	154.0	153.0					11																	33080601		2202	4298	6500	SO:0001819	synonymous_variant	55346							g.chr11:33080601C>T	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.735C>T	11.37:g.33080601C>T						TCP11L1_ENST00000432887.1_Silent_p.Y245Y|TCP11L1_ENST00000531632.2_Silent_p.Y245Y|TCP11L1_ENST00000324357.9_Silent_p.Y24Y	p.Y245Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN			6	1135	+			245					D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	c.735C>T	CCDS7882.1																																																																																				0.388	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		35	54	0	0	0	1	0	35	54				
GGCX	2677	broad.mit.edu	37	2	85778163	85778163	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85778163C>T	ENST00000233838.4	-	13	1853	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Silent_p.T534T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	591					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TAGGTGATGTCGTATACACCT	0.453																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1771-1773)acG>acA		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						179.0	160.0	167.0					2																	85778163		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85778163C>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1773G>A	2.37:g.85778163C>T						GGCX_ENST00000430215.3_Silent_p.T534T	p.T591T	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			13	1853	-			591					B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.1773G>A	CCDS1978.1																																																																																				0.453	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		26	43	0	0	0	1	0	26	43				
AP5Z1	9907	broad.mit.edu	37	7	4830482	4830482	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4830482C>T	ENST00000348624.4	+	16	2211	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	706					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACCACGCTGACGAAGCTGGCC	0.662																																						ENST00000348624.4																			0											c.(2116-2118)aCg>aTg		adaptor-related protein complex 5, zeta 1 subunit							24.0	27.0	26.0					7																	4830482		2053	4180	6233	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830482C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2117C>T	7.37:g.4830482C>T	ENSP00000297562:p.Thr706Met					AP5Z1_ENST00000490487.1_3'UTR	p.T706M	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			16	2211	+			706					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2117C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242071	0.58995	.	.	ENSG00000242802	ENST00000348624	T	0.64991	-0.13	5.48	5.48	0.80851	Armadillo-like helical (1);	.	.	.	.	T	0.81202	0.4773	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.959	T	0.83275	-0.0041	9	0.62326	D	0.03	.	18.3378	0.90294	0.0:1.0:0.0:0.0	.	1417;706	A4D1Z4;O43299	.;K0415_HUMAN	M	706	ENSP00000297562:T706M	ENSP00000297562:T706M	T	+	2	0	KIAA0415	4797008	1.000000	0.71417	0.989000	0.46669	0.045000	0.14185	5.577000	0.67444	2.571000	0.86741	0.549000	0.68633	ACG		0.662	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			12	9	0	0	0	1	0	12	9				
CC2D1A	54862	broad.mit.edu	37	19	14030737	14030737	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14030737G>T	ENST00000318003.7	+	12	1570	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E443D	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	443					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGGCCCAGAGGATGAAGAGG	0.607																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1327-1329)gaG>gaT		coiled-coil and C2 domain containing 1A							56.0	62.0	60.0					19																	14030737		1930	4144	6074	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14030737G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1329G>T	19.37:g.14030737G>T	ENSP00000313601:p.Glu443Asp					CC2D1A_ENST00000589606.1_Missense_Mutation_p.E443D	p.E443D	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		12	1570	+			443					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1329G>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972302	0.18736	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.34072	1.38	3.69	-1.15	0.09709	.	0.321844	0.30781	N	0.008885	T	0.11965	0.0291	N	0.08118	0	0.31596	N	0.653267	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.09377	0.002;0.002;0.004	T	0.23190	-1.0195	10	0.09338	T	0.73	-24.7337	3.5906	0.07987	0.2808:0.0:0.4442:0.275	.	443;443;197	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	D	443;197	ENSP00000313601:E443D	ENSP00000313601:E443D	E	+	3	2	CC2D1A	13891737	0.994000	0.37717	0.526000	0.27913	0.996000	0.88848	0.076000	0.14712	-0.104000	0.12154	0.561000	0.74099	GAG		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	13	1	0	7.48243e-07	1	7.8103e-07	10	13				
CCDC144A	9720	broad.mit.edu	37	17	16593939	16593939	+	Silent	SNP	C	C	T	rs2621675		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:16593939C>T	ENST00000360524.8	+	1	301	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CCDC144A_ENST00000456009.1_Silent_p.D75D|RP11-219A15.1_ENST00000448331.3_Silent_p.D75D|CCDC144A_ENST00000443444.2_Silent_p.D75D|CCDC144A_ENST00000399273.1_Silent_p.D75D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.D75D|RNU6-405P_ENST00000516637.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	75																	CCCAGCACGACGTCCGCCTGG	0.652																																						ENST00000443444.2																			0											c.(223-225)gaC>gaT		coiled-coil domain containing 144A							77.0	84.0	81.0					17																	16593939		2203	4296	6499	SO:0001819	synonymous_variant	9720							g.chr17:16593939C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.225C>T	17.37:g.16593939C>T						CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Silent_p.D75D|RP11-219A15.1_ENST00000448331.3_Silent_p.D75D|CCDC144A_ENST00000456009.1_Silent_p.D75D|CCDC144A_ENST00000340621.5_Silent_p.D75D|CCDC144A_ENST00000399273.1_Silent_p.D75D	p.D75D			A2RUR9	C144A_HUMAN			1	365	+			75					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.225C>T	CCDS45621.1																																																																																				0.652	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			37	58	0	0	0	1	0	37	58				
GPR133	283383	broad.mit.edu	37	12	131602982	131602982	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:131602982C>T	ENST00000261654.5	+	19	2653	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	GPR133_ENST00000535015.1_Silent_p.Y730Y|GPR133_ENST00000543617.1_Silent_p.Y217Y|GPR133_ENST00000376682.4_Silent_p.Y384Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	698					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGACAGTTACGGAACAAGCA	0.493																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2092-2094)taC>taT		G protein-coupled receptor 133							261.0	237.0	245.0					12																	131602982		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131602982C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2094C>T	12.37:g.131602982C>T						GPR133_ENST00000543617.1_Silent_p.Y217Y|GPR133_ENST00000376682.4_Silent_p.Y384Y|GPR133_ENST00000535015.1_Silent_p.Y730Y	p.Y698Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	19	2653	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		698					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2094C>T	CCDS9272.1																																																																																				0.493	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		7	148	0	0	0	1	0	7	148				
GPR116	221395	broad.mit.edu	37	6	46821804	46821804	+	Silent	SNP	C	C	T	rs549945311		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46821804C>T	ENST00000283296.7	-	21	4254	c.3966G>A	c.(3964-3966)acG>acA	p.T1322T	GPR116_ENST00000362015.4_Silent_p.T1302T|GPR116_ENST00000456426.2_Silent_p.T1180T|GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Silent_p.T1322T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1322					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAACATTATACGTTCCTGAAA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18445	0.001		0.0	False		,,,				2504	0.0				NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3964-3966)acG>acA		G protein-coupled receptor 116							89.0	91.0	90.0					6																	46821804		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46821804C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3966G>A	6.37:g.46821804C>T						GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Silent_p.T1322T|GPR116_ENST00000456426.2_Silent_p.T1180T|GPR116_ENST00000362015.4_Silent_p.T1302T	p.T1322T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		21	4254	-			1322					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3966G>A	CCDS4919.1																																																																																				0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		20	25	0	0	0	1	0	20	25				
AZGP1	563	broad.mit.edu	37	7	99569532	99569532	+	Missense_Mutation	SNP	G	G	T	rs371816790		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99569532G>T	ENST00000292401.4	-	2	310	c.174C>A	c.(172-174)ttC>ttA	p.F58L	AZGP1_ENST00000411734.1_Missense_Mutation_p.F55L	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	58					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGTATCTAAAGAACTGGAGGT	0.512																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(163-165)ttC>ttA		alpha-2-glycoprotein 1, zinc-binding							112.0	107.0	109.0					7																	99569532		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569532G>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.174C>A	7.37:g.99569532G>T	ENSP00000292401:p.Phe58Leu					AZGP1_ENST00000292401.4_Missense_Mutation_p.F58L	p.F55L			P25311	ZA2G_HUMAN			2	170	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		58					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.165C>A	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.297657|2.297657	0.40694|0.40694	.|.	.|.	ENSG00000160862|ENSG00000160862	ENST00000292401;ENST00000411734|ENST00000419575	T;T|.	0.01295|.	5.04;5.04|.	1.51|1.51	1.51|1.51	0.23008|0.23008	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.000000|.	0.33650|.	U|.	0.004696|.	T|T	0.62454|0.62454	0.2429|0.2429	M|M	0.89658|0.89658	3.05|3.05	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.54925|0.54925	-0.8220|-0.8220	10|5	0.87932|.	D|.	0|.	.|.	6.4356|6.4356	0.21821|0.21821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58|.	P25311|.	ZA2G_HUMAN|.	L|Y	58;55|29	ENSP00000292401:F58L;ENSP00000396093:F55L|.	ENSP00000292401:F58L|.	F|S	-|-	3|2	2|0	AZGP1|AZGP1	99407468|99407468	0.930000|0.930000	0.31532|0.31532	0.056000|0.056000	0.19401|0.19401	0.003000|0.003000	0.03518|0.03518	0.791000|0.791000	0.26915|0.26915	1.130000|1.130000	0.42092|0.42092	0.313000|0.313000	0.20887|0.20887	TTC|TCT		0.512	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		22	29	1	0	8.04996e-18	1	8.87193e-18	22	29				
PCDHGA9	56107	broad.mit.edu	37	5	140782757	140782757	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140782757C>T	ENST00000573521.1	+	1	238	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAACCCGCGCAGCGGCAC	0.617																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(238-240)Cgc>Tgc									51.0	60.0	57.0					5																	140782757		2046	4226	6272	SO:0001583	missense	0							g.chr5:140782757C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.238C>T	5.37:g.140782757C>T	ENSP00000460274:p.Arg80Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.R80C	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	238	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.238C>T	CCDS58981.1																																																																																				0.617	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		34	45	0	0	0	1	0	34	45				
AKT1S1	84335	broad.mit.edu	37	19	50374839	50374839	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50374839T>C	ENST00000391833.1	-	3	2581	c.592A>G	c.(592-594)Aca>Gca	p.T198A	AKT1S1_ENST00000391834.2_Missense_Mutation_p.T198A|AKT1S1_ENST00000391831.1_Missense_Mutation_p.T198A|AKT1S1_ENST00000391832.3_Missense_Mutation_p.T198A|AKT1S1_ENST00000391835.1_Missense_Mutation_p.T218A|AKT1S1_ENST00000344175.5_Missense_Mutation_p.T198A	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCGCCTCTGTCCTCTTCTCC	0.647																																						ENST00000391833.1																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(592-594)Aca>Gca		AKT1 substrate 1 (proline-rich)							119.0	123.0	122.0					19																	50374839		2203	4300	6503	SO:0001583	missense	84335				negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding	g.chr19:50374839T>C	BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.592A>G	19.37:g.50374839T>C	ENSP00000375709:p.Thr198Ala					AKT1S1_ENST00000391835.1_Missense_Mutation_p.T218A|AKT1S1_ENST00000391834.2_Missense_Mutation_p.T198A|AKT1S1_ENST00000344175.5_Missense_Mutation_p.T198A|AKT1S1_ENST00000391831.1_Missense_Mutation_p.T198A|AKT1S1_ENST00000391832.3_Missense_Mutation_p.T198A	p.T198A	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	3	2581	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	198						Missense_Mutation	SNP	ENST00000391833.1	37	c.592A>G	CCDS12784.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246330	0.22796	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.66	-0.532	0.11890	.	0.782790	0.11346	N	0.573486	T	0.16599	0.0399	N	0.04203	-0.255	0.27499	N	0.952056	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	10	0.35671	T	0.21	-1.2903	2.78	0.05358	0.1437:0.0914:0.431:0.3339	.	198	Q96B36	AKTS1_HUMAN	A	198;198;198;198;218;198	ENSP00000375709:T198A;ENSP00000341698:T198A;ENSP00000375708:T198A;ENSP00000375710:T198A;ENSP00000375711:T218A;ENSP00000375707:T198A	ENSP00000341698:T198A	T	-	1	0	AKT1S1	55066651	0.988000	0.35896	0.997000	0.53966	0.996000	0.88848	0.817000	0.27281	-0.061000	0.13110	0.533000	0.62120	ACA		0.647	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375		53	85	0	0	0	1	0	53	85				
TRIM46	80128	broad.mit.edu	37	1	155156326	155156326	+	Missense_Mutation	SNP	C	C	T	rs568225887		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155156326C>T	ENST00000334634.4	+	10	1940	c.1940C>T	c.(1939-1941)gCg>gTg	p.A647V	TRIM46_ENST00000368382.1_Missense_Mutation_p.A624V|TRIM46_ENST00000545012.1_Missense_Mutation_p.A521V|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	647	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGTGGAGGCGTCGCCACCC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17577	0.0		0.0	False		,,,				2504	0.0					ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1870-1872)gCg>gTg		tripartite motif containing 46							60.0	57.0	58.0					1																	155156326		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156326C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1940C>T	1.37:g.155156326C>T	ENSP00000334657:p.Ala647Val					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.A647V|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A521V	p.A624V	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2008	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		647			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1871C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588567	0.28357	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.64085	-0.08;0.38;0.44	3.66	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.080357	0.51477	D	0.000085	T	0.26231	0.0640	N	0.14661	0.345	0.36974	D	0.893956	B	0.26744	0.158	B	0.20384	0.029	T	0.10405	-1.0631	10	0.26408	T	0.33	.	13.2724	0.60167	0.0:1.0:0.0:0.0	.	647	Q7Z4K8	TRI46_HUMAN	V	605;521;624;647	ENSP00000440254:A521V;ENSP00000357366:A624V;ENSP00000334657:A647V	ENSP00000334657:A647V	A	+	2	0	TRIM46	153422950	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	5.632000	0.67819	2.065000	0.61736	0.313000	0.20887	GCG		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		20	38	0	0	0	1	0	20	38				
MYT1	4661	broad.mit.edu	37	20	62848581	62848581	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62848581G>A	ENST00000328439.1	+	11	2157	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MYT1_ENST00000536311.1_Missense_Mutation_p.R598H|MYT1_ENST00000360149.4_Missense_Mutation_p.R300H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R598H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTGGCAAACGCATGCTTGCC	0.512																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Substitution - Missense(1)	p.R598H(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1792-1794)cGc>cAc		myelin transcription factor 1							109.0	101.0	104.0					20																	62848581		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848581G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1793G>A	20.37:g.62848581G>A	ENSP00000327465:p.Arg598His					MYT1_ENST00000328439.1_Missense_Mutation_p.R598H|MYT1_ENST00000360149.4_Missense_Mutation_p.R300H	p.R598H			Q01538	MYT1_HUMAN			11	2157	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		598					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1793G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244531	0.79912	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.60920	0.15;0.15;0.15	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.81914	0.985;0.786;0.995	T	0.72239	-0.4351	10	0.56958	D	0.05	-27.1996	19.5144	0.95157	0.0:0.0:1.0:0.0	.	598;598;300	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	300;598;598	ENSP00000353269:R300H;ENSP00000327465:R598H;ENSP00000442412:R598H	ENSP00000327465:R598H	R	+	2	0	MYT1	62319025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.725000	0.98778	2.618000	0.88619	0.655000	0.94253	CGC		0.512	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		29	39	0	0	0	1	0	29	39				
GPLD1	2822	broad.mit.edu	37	6	24450058	24450058	+	Missense_Mutation	SNP	C	C	T	rs142854013	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24450058C>T	ENST00000230036.1	-	15	1515	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	469					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGAGCTCCCACGGCCAGGTCA	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16659	0.0		0.0	False		,,,				2504	0.0					ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1405-1407)Gtg>Atg		glycosylphosphatidylinositol specific phospholipase D1							101.0	98.0	99.0					6																	24450058		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24450058C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1405G>A	6.37:g.24450058C>T	ENSP00000230036:p.Val469Met						p.V469M	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			15	1515	-			469					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1405G>A	CCDS4553.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.1	4.247671	0.80024	.	.	ENSG00000112293	ENST00000230036	T	0.74209	-0.82	5.35	5.35	0.76521	.	0.098975	0.42821	D	0.000656	D	0.89808	0.6822	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92836	0.6284	10	0.87932	D	0	-21.6547	13.3999	0.60876	0.0:0.922:0.0:0.078	.	469	P80108	PHLD_HUMAN	M	469	ENSP00000230036:V469M	ENSP00000230036:V469M	V	-	1	0	GPLD1	24558037	0.982000	0.34865	0.998000	0.56505	0.887000	0.51463	2.570000	0.45981	2.484000	0.83849	0.591000	0.81541	GTG		0.617	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		15	28	0	0	0	1	0	15	28				
NBEAL2	23218	broad.mit.edu	37	3	47041142	47041142	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:47041142G>A	ENST00000450053.3	+	26	3905	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_De_novo_Start_InFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1242	Leu-rich.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTCAGATCTGCTGGCTGTGG	0.617																																						ENST00000383740.2																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51								neurobeachin-like 2							51.0	54.0	53.0					3																	47041142		1973	4160	6133	SO:0001819	synonymous_variant	23218						binding	g.chr3:47041142G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3726G>A	3.37:g.47041142G>A						NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.L1242L				Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	0	3905	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Translation_Start_Site	SNP	ENST00000450053.3	37		CCDS46817.1																																																																																				0.617	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		18	21	0	0	0	1	0	18	21				
SCN9A	6335	broad.mit.edu	37	2	167129367	167129367	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167129367C>T	ENST00000409435.1	-	16	2892	c.2893G>A	c.(2893-2895)Gcc>Acc	p.A965T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A966T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A966T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A954T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	965					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAATAAGGCCAGAAATAGG	0.378																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(2896-2898)Gcc>Acc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						31.0	29.0	29.0					2																	167129367		1826	4087	5913	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167129367C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2893G>A	2.37:g.167129367C>T	ENSP00000386330:p.Ala965Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A954T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A966T|SCN9A_ENST00000409435.1_Missense_Mutation_p.A965T	p.A966T			Q15858	SCN9A_HUMAN			17	3236	-			965					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.2896G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250416	0.95305	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000010	D	0.99664	0.9875	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.97695	1.0181	10	0.87932	D	0	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	954	E7EUN6	.	T	954;966;966;965	ENSP00000386306:A954T;ENSP00000364536:A966T;ENSP00000304748:A966T;ENSP00000386330:A965T	ENSP00000304748:A966T	A	-	1	0	SCN9A	166837613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.765000	0.95021	0.655000	0.94253	GCC		0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	10	0	0	0	1	0	7	10				
SLC27A1	376497	broad.mit.edu	37	19	17611139	17611139	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17611139G>A	ENST00000252595.7	+	8	1356	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R420Q|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R241Q|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	420	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TACCCCATCCGGCTGGTGAAG	0.652																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1258-1260)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 1							57.0	55.0	56.0					19																	17611139		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611139G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1259G>A	19.37:g.17611139G>A	ENSP00000252595:p.Arg420Gln					SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R420Q|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R241Q|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.R420Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			8	1356	+			420			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1259G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650509	0.47362	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.45276	0.9;0.9	4.03	0.69	0.18039	AMP-dependent synthetase/ligase (1);	0.071875	0.64402	D	0.000020	T	0.36853	0.0982	L	0.49640	1.575	0.47441	D	0.999423	D;P	0.57257	0.979;0.955	P;B	0.49451	0.611;0.427	T	0.24333	-1.0163	10	0.14656	T	0.56	-12.2593	7.6199	0.28179	0.2922:0.0:0.7078:0.0	.	241;420	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	420	ENSP00000413424:R420Q;ENSP00000252595:R420Q	ENSP00000252595:R420Q	R	+	2	0	SLC27A1	17472139	0.819000	0.29175	0.928000	0.36995	0.550000	0.35303	4.271000	0.58902	0.050000	0.15949	-1.056000	0.02311	CGG		0.652	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		26	33	0	0	0	1	0	26	33				
WARS2	10352	broad.mit.edu	37	1	119584902	119584902	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119584902T>C	ENST00000235521.4	-	4	526	c.500A>G	c.(499-501)gAc>gGc	p.D167G	WARS2_ENST00000537870.1_Missense_Mutation_p.D73G|WARS2_ENST00000369426.5_Missense_Mutation_p.D167G	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	167					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGAATGTCGGCTGCCTG	0.478																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(499-501)gAc>gGc		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						143.0	127.0	132.0					1																	119584902		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119584902T>C	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.500A>G	1.37:g.119584902T>C	ENSP00000235521:p.Asp167Gly					WARS2_ENST00000235521.4_Missense_Mutation_p.D167G|WARS2_ENST00000537870.1_Missense_Mutation_p.D73G	p.D167G			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	4	503	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	167					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.500A>G	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474599	0.84640	.	.	ENSG00000116874	ENST00000369426;ENST00000235521;ENST00000537870	T;T;T	0.78003	-1.14;-1.14;-1.14	5.66	5.66	0.87406	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92678	0.7673	H	0.99425	4.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95583	0.8648	10	0.87932	D	0	-26.8681	14.4619	0.67456	0.0:0.0:0.0:1.0	.	110;167;167	B7Z6G7;Q9UGM6;B1ALR1	.;SYWM_HUMAN;.	G	167;167;73	ENSP00000358434:D167G;ENSP00000235521:D167G;ENSP00000438807:D73G	ENSP00000235521:D167G	D	-	2	0	WARS2	119386425	1.000000	0.71417	0.989000	0.46669	0.876000	0.50452	7.247000	0.78257	2.144000	0.66660	0.528000	0.53228	GAC		0.478	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		28	44	0	0	0	1	0	28	44				
KCNJ2	3759	broad.mit.edu	37	17	68171424	68171424	+	Missense_Mutation	SNP	C	C	T	rs199473373		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:68171424C>T	ENST00000243457.3	+	2	627	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R82W	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	82					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTCGCTGGCGGTGGATGCT	0.517																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	GRCh37	CM066888	KCNJ2	M		c.(244-246)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 2							220.0	163.0	182.0					17																	68171424		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171424C>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.244C>T	17.37:g.68171424C>T	ENSP00000243457:p.Arg82Trp					KCNJ2_ENST00000535240.1_Missense_Mutation_p.R82W	p.R82W	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	627	+	Breast(10;1.64e-08)		82					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.244C>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893406	0.52121	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.96011	-3.88;-3.88	5.66	3.63	0.41609	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	H	0.94582	3.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.98824	1.0748	9	.	.	.	.	14.5502	0.68059	0.4435:0.5565:0.0:0.0	.	82	P63252	IRK2_HUMAN	W	82	ENSP00000441848:R82W;ENSP00000243457:R82W	.	R	+	1	2	KCNJ2	65683019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.737000	0.47393	0.710000	0.31997	0.555000	0.69702	CGG		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		30	35	0	0	0	1	0	30	35				
THBS2	7058	broad.mit.edu	37	6	169642042	169642042	+	Missense_Mutation	SNP	C	C	T	rs202062355		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:169642042C>T	ENST00000366787.3	-	6	955	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	236					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACTGATGGCGTTGATCTCA	0.657																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(706-708)Gcc>Acc		thrombospondin 2		C	THR/ALA	0,4406		0,0,2203	43.0	36.0	38.0		706	0.2	0.2	6		38	1,8593	1.2+/-3.3	0,1,4296	yes	missense	THBS2	NM_003247.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	236/1173	169642042	1,12999	2203	4297	6500	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169642042C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.706G>A	6.37:g.169642042C>T	ENSP00000355751:p.Ala236Thr						p.A236T	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	955	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	236					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.706G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066926	0.07273	0.0	1.16E-4	ENSG00000186340	ENST00000366787	T	0.80566	-1.39	4.75	0.159	0.14968	.	0.613475	0.13346	N	0.394744	T	0.29914	0.0748	N	0.02802	-0.49	0.20703	N	0.999861	B	0.10296	0.003	B	0.08055	0.003	T	0.37663	-0.9696	10	0.14252	T	0.57	-40.129	7.713	0.28688	0.0:0.3978:0.0:0.6022	.	236	P35442	TSP2_HUMAN	T	236	ENSP00000355751:A236T	ENSP00000355751:A236T	A	-	1	0	THBS2	169383967	0.790000	0.28787	0.222000	0.23844	0.073000	0.16967	1.040000	0.30278	0.087000	0.17167	-0.333000	0.08304	GCC		0.657	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	20	0	0	0	1	0	16	20				
DPP6	1804	broad.mit.edu	37	7	154379709	154379709	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:154379709G>A	ENST00000377770.3	+	6	768				DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.G326D|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.G326V(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACGAGTGTGGCAGGTGTGAG	0.607																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			1	Substitution - Missense(1)	p.G326V(1)	lung(1)	NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(976-978)gGc>gAc		dipeptidyl-peptidase 6							166.0	147.0	152.0					7																	154379709		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379709G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49822G>A	7.37:g.154379709G>A						DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron	p.G326D			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1380	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.977G>A		.	.	.	.	.	.	.	.	.	.	G	6.495	0.459574	0.12342	.	.	ENSG00000130226	ENST00000406326	.	.	.	3.15	-6.31	0.02001	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	B	0.24426	0.103	B	0.22386	0.039	T	0.23726	-1.0180	7	0.87932	D	0	.	2.0749	0.03622	0.3906:0.339:0.1499:0.1204	.	326	Q8IYG9	.	D	326	.	ENSP00000384393:G326D	G	+	2	0	DPP6	154010642	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-1.650000	0.01991	-1.992000	0.00975	0.462000	0.41574	GGC		0.607	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		23	45	0	0	0	1	0	23	45				
MDN1	23195	broad.mit.edu	37	6	90426431	90426431	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90426431G>A	ENST00000369393.3	-	44	6796	c.6681C>T	c.(6679-6681)agC>agT	p.S2227S	MDN1_ENST00000428876.1_Silent_p.S2227S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2227					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAACCAACATGCTGTCAACCC	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6679-6681)agC>agT		MDN1, midasin homolog (yeast)							119.0	98.0	105.0					6																	90426431		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426431G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6681C>T	6.37:g.90426431G>A						MDN1_ENST00000428876.1_Silent_p.S2227S	p.S2227S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6796	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2227					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6681C>T	CCDS5024.1																																																																																				0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	67	0	0	0	1	0	6	67				
SLC44A5	204962	broad.mit.edu	37	1	75683619	75683619	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:75683619C>T	ENST00000370855.5	-	18	1669	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G519E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G389E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	519					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AATTAAAGATCCAAATGCTAG	0.294																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1555-1557)gGa>gAa		solute carrier family 44, member 5							51.0	55.0	54.0					1																	75683619		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683619C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1556G>A	1.37:g.75683619C>T	ENSP00000359892:p.Gly519Glu					SLC44A5_ENST00000370859.3_Missense_Mutation_p.G519E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G389E	p.G519E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			18	1669	-			519					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1556G>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088596	0.94100	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.66815	-0.23;-0.23;-0.23	5.93	5.93	0.95920	.	0.103781	0.64402	D	0.000003	D	0.87136	0.6102	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.992;0.998;0.997;0.994;0.997	D	0.89764	0.3949	10	0.87932	D	0	-14.6266	20.3261	0.98701	0.0:1.0:0.0:0.0	.	513;558;519;519;558	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	E	519;558;519;389;512	ENSP00000359896:G519E;ENSP00000359892:G519E;ENSP00000443090:G389E	ENSP00000359892:G519E	G	-	2	0	SLC44A5	75456207	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GGA		0.294	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		23	33	0	0	0	1	0	23	33				
RNF165	494470	broad.mit.edu	37	18	44013447	44013447	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44013447G>A	ENST00000269439.7	+	2	407	c.356G>A	c.(355-357)cGc>cAc	p.R119H	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	119							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCCCAGCACCGCAGGCTGGTC	0.701																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(355-357)cGc>cAc		ring finger protein 165							31.0	31.0	31.0					18																	44013447		2195	4294	6489	SO:0001583	missense	494470						zinc ion binding	g.chr18:44013447G>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.356G>A	18.37:g.44013447G>A	ENSP00000269439:p.Arg119His					RNF165_ENST00000543885.1_Intron	p.R119H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	2	407	+			119					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.356G>A	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208463	0.95069	.	.	ENSG00000141622	ENST00000269439	T	0.24151	1.87	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.32745	-0.9895	10	0.42905	T	0.14	-9.001	17.3155	0.87222	0.0:0.0:1.0:0.0	.	119	Q6ZSG1	RN165_HUMAN	H	119	ENSP00000269439:R119H	ENSP00000269439:R119H	R	+	2	0	RNF165	42267445	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.163000	0.94750	2.523000	0.85059	0.557000	0.71058	CGC		0.701	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		7	12	0	0	0	1	0	7	12				
GNAZ	2781	broad.mit.edu	37	22	23465564	23465564	+	Silent	SNP	C	C	T	rs555717993	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23465564C>T	ENST00000248996.4	+	3	1680	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	338					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGTCTTCGACGCGGTGACAG	0.562													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18372	0.0		0.0	False		,,,				2504	0.0					ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(1012-1014)gaC>gaT		guanine nucleotide binding protein (G protein), alpha z polypeptide							128.0	94.0	105.0					22																	23465564		2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465564C>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.1014C>T	22.37:g.23465564C>T						RTDR1_ENST00000216036.4_Intron	p.D338D	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1680	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		338					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.1014C>T	CCDS13804.1																																																																																				0.562	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		13	18	0	0	0	1	0	13	18				
KIAA0930	23313	broad.mit.edu	37	22	45601700	45601700	+	Missense_Mutation	SNP	C	C	T	rs146302383		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45601700C>T	ENST00000336156.5	-	3	375	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	KIAA0930_ENST00000251993.7_Missense_Mutation_p.V109I|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V86I|KIAA0930_ENST00000391627.2_Missense_Mutation_p.V70I	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	104										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TTCAGGCAGACGCTCTCCTCC	0.652																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(310-312)Gtc>Atc		KIAA0930		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	46.0	42.0	43.0		310,325	4.5	1.0	22	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIAA0930	NM_001009880.1,NM_015264.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	104/405,109/410	45601700	1,13005	2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601700C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.310G>A	22.37:g.45601700C>T	ENSP00000336720:p.Val104Ile					KIAA0930_ENST00000391627.2_Missense_Mutation_p.V70I|KIAA0930_ENST00000251993.7_Missense_Mutation_p.V109I|KIAA0930_ENST00000443310.3_Missense_Mutation_p.V86I	p.V104I	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			3	375	-			104					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.310G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163268	0.94727	0.0	1.16E-4	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.76494	0.999;0.959;0.966;0.992	D;B;B;P	0.74674	0.984;0.404;0.369;0.711	T	0.82886	-0.0235	9	0.66056	D	0.02	-12.7666	17.5181	0.87780	0.0:1.0:0.0:0.0	.	86;104;109;175	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	I	104;11;109;70;86;70;86	.	ENSP00000251993:V109I	V	-	1	0	KIAA0930	43980364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.212000	0.77941	2.214000	0.71695	0.561000	0.74099	GTC		0.652	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		4	16	0	0	0	1	0	4	16				
PDE6A	5145	broad.mit.edu	37	5	149264056	149264056	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149264056G>A	ENST00000255266.5	-	16	2132	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	671					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AATACAGGGCGAGGTCTGTGG	0.338																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(2011-2013)ctC>ctT		phosphodiesterase 6A, cGMP-specific, rod, alpha							99.0	98.0	99.0					5																	149264056		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264056G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2013C>T	5.37:g.149264056G>A							p.L671L	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		16	2132	-			671					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2013C>T	CCDS4299.1																																																																																				0.338	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			25	27	0	0	0	1	0	25	27				
SPATA13	221178	broad.mit.edu	37	13	24860352	24860352	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:24860352C>T	ENST00000382095.4	+	5	834	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	SPATA13_ENST00000424834.2_Splice_Site_p.L768L|SPATA13_ENST00000343003.6_Splice_Site_p.L87L|RP11-307N16.6_ENST00000382141.4_Splice_Site_p.L646L|SPATA13_ENST00000382108.3_Splice_Site_p.L768L|SPATA13_ENST00000409126.1_Splice_Site_p.L65L|SPATA13_ENST00000399949.2_Splice_Site_p.L65L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	143	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTCCTTTCAGCTGATCAGTGA	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.e8-1		spermatogenesis associated 13							126.0	116.0	120.0					13																	24860352		2203	4300	6503	SO:0001630	splice_region_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860352C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.427-1C>T	13.37:g.24860352C>T						SPATA13_ENST00000382108.3_Splice_Site_p.L768_splice|SPATA13_ENST00000399949.2_Splice_Site_p.L65_splice|SPATA13_ENST00000382095.4_Splice_Site_p.L143_splice|SPATA13_ENST00000409126.1_Splice_Site_p.L65_splice|SPATA13_ENST00000343003.6_Splice_Site_p.L87_splice	p.L768_splice			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2775	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	143					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Splice_Site	SNP	ENST00000382095.4	37	c.2301_splice	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	6.777	0.512311	0.12944	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.63343	0.2503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61681	-0.7013	4	.	.	.	.	11.3374	0.49511	0.0:0.9174:0.0:0.0826	.	.	.	.	V	805	.	.	A	+	2	0	SPATA13	23758352	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	2.349000	0.44054	2.462000	0.83206	0.655000	0.94253	GCT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	Silent	34	84	0	0	0	1	0	34	84				
CSMD2	114784	broad.mit.edu	37	1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	rs139840174		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20872	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9448-9450)Gtc>Atc		CUB and Sushi multiple domains 2		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	156.0	159.0		9016	3.5	0.9	1	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSMD2	NM_052896.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3006/3488	34006739	3,13003	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006739C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9448G>A	1.37:g.34006739C>T	ENSP00000362479:p.Val3150Ile						p.V3150I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			59	9624	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3122			Sushi 25.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9448G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.316893	0.23908	2.27E-4	2.33E-4	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.45	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.328480	0.28360	N	0.015635	T	0.44664	0.1304	N	0.25485	0.75	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.009	T	0.34551	-0.9824	10	0.38643	T	0.18	.	6.9309	0.24442	0.0:0.7042:0.1433:0.1525	.	3006;3150	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	3150	ENSP00000362479:V3150I	ENSP00000241312:V3006I	V	-	1	0	CSMD2	33779326	0.525000	0.26290	0.855000	0.33649	0.875000	0.50365	0.980000	0.29513	1.311000	0.45024	0.455000	0.32223	GTC		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	60	0	0	0	1	0	33	60				
SNHG14	104472715	broad.mit.edu	37	15	25339071	25339071	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25339071G>T	ENST00000546682.1	+	0	1060				SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGGGCACGTGCAGCATATGT	0.507																																						ENST00000546682.1																			0																																																			0							g.chr15:25339071G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25339071G>T						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	1060	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.507	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			5	13	1	0	0.014758	1	0.0148771	5	13				
APLP1	333	broad.mit.edu	37	19	36365707	36365707	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36365707C>T	ENST00000221891.4	+	10	1472	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	APLP1_ENST00000586861.1_Missense_Mutation_p.T421M|APLP1_ENST00000537454.2_Missense_Mutation_p.T388M|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	427	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGAGGCACACGCTGCGCCAC	0.652																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1279-1281)aCg>aTg		amyloid beta (A4) precursor-like protein 1							61.0	48.0	53.0					19																	36365707		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365707C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1280C>T	19.37:g.36365707C>T	ENSP00000221891:p.Thr427Met					APLP1_ENST00000537454.2_Missense_Mutation_p.T388M|APLP1_ENST00000586861.1_Missense_Mutation_p.T421M|APLP1_ENST00000589298.2_3'UTR	p.T427M	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1472	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		427			Heparin-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1280C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489299	0.84962	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Amyloidogenic glycoprotein, E2 domain (2);	0.139429	0.33813	N	0.004533	T	0.67468	0.2896	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;1.0;1.0	T	0.71530	-0.4565	10	0.66056	D	0.02	-15.6803	15.1758	0.72910	0.0:1.0:0.0:0.0	.	421;388;427;427	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	M	388;427	ENSP00000441501:T388M;ENSP00000221891:T427M	ENSP00000221891:T427M	T	+	2	0	APLP1	41057547	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	5.381000	0.66208	2.171000	0.68590	0.555000	0.69702	ACG		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		15	16	0	0	0	1	0	15	16				
CMC1	152100	broad.mit.edu	37	3	28304845	28304845	+	Missense_Mutation	SNP	A	A	C	rs368316365		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:28304845A>C	ENST00000466830.1	+	2	282	c.83A>C	c.(82-84)aAa>aCa	p.K28T	CMC1_ENST00000423894.1_Intron	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1	28						mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						GAAAAGGCCAAAGAGAGGTGT	0.303																																						ENST00000466830.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)	5						c.(82-84)aAa>aCa		C-x(9)-C motif containing 1							54.0	59.0	57.0					3																	28304845		2203	4295	6498	SO:0001583	missense	152100					mitochondrion	metal ion binding	g.chr3:28304845A>C	BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.83A>C	3.37:g.28304845A>C	ENSP00000418348:p.Lys28Thr					CMC1_ENST00000423894.1_Intron	p.K28T	NM_182523.1	NP_872329.1	Q7Z7K0	COXAM_HUMAN			2	282	+			28					Q68DJ7	Missense_Mutation	SNP	ENST00000466830.1	37	c.83A>C	CCDS33722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.99|13.99	2.401133|2.401133	0.42613|0.42613	.|.	.|.	ENSG00000187118|ENSG00000187118	ENST00000466830|ENST00000418849	T|.	0.44083|.	0.93|.	5.93|5.93	-0.0702|-0.0702	0.13748|0.13748	.|.	0.332135|.	0.39544|.	N|.	0.001331|.	T|T	0.71508|0.71508	0.3348|0.3348	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	B|.	0.20887|.	0.049|.	B|.	0.27262|.	0.078|.	T|T	0.70502|0.70502	-0.4854|-0.4854	10|5	0.72032|.	D|.	0.01|.	-6.592|-6.592	11.4867|11.4867	0.50358|0.50358	0.4077:0.0:0.5923:0.0|0.4077:0.0:0.5923:0.0	.|.	28|.	Q7Z7K0|.	COXAM_HUMAN|.	T|H	28|34	ENSP00000418348:K28T|.	ENSP00000418348:K28T|.	K|Q	+|+	2|3	0|2	CMC1|CMC1	28279849|28279849	0.967000|0.967000	0.33354|0.33354	0.955000|0.955000	0.39395|0.39395	0.957000|0.957000	0.61999|0.61999	0.324000|0.324000	0.19610|0.19610	-0.075000|-0.075000	0.12798|0.12798	-1.257000|-1.257000	0.01473|0.01473	AAA|CAA		0.303	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341087.1	NM_182523		20	36	0	0	0	1	0	20	36				
ECE1	1889	broad.mit.edu	37	1	21571562	21571562	+	Missense_Mutation	SNP	G	G	A	rs372113894		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21571562G>A	ENST00000374893.6	-	10	1272	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	ECE1_ENST00000436918.2_Missense_Mutation_p.R400W|ECE1_ENST00000264205.6_Missense_Mutation_p.R397W|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Missense_Mutation_p.R388W|ECE1_ENST00000415912.2_Missense_Mutation_p.R384W	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	400					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.R400W(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTGTTTTCCGCACCAGGTTC	0.572											OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000415912.2																			1	Substitution - Missense(1)	p.R400W(1)	large_intestine(1)	endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1150-1152)Cgg>Tgg		endothelin converting enzyme 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	126.0	103.0	111.0		1162,1150,1189,1198	4.6	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	388/759,384/755,397/768,400/771	21571562	1,13005	2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21571562G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1198C>T	1.37:g.21571562G>A	ENSP00000364028:p.Arg400Trp		OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ECE1_ENST00000374893.6_Missense_Mutation_p.R400W|ECE1_ENST00000264205.6_Missense_Mutation_p.R397W|ECE1_ENST00000357071.4_Missense_Mutation_p.R388W|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.R400W	p.R384W	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	10	1275	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	400					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1150C>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873973	0.72180	0.0	1.16E-4	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.55	4.57	0.56435	Peptidase M13 (1);	0.048391	0.85682	D	0.000000	D	0.85106	0.5621	M	0.78285	2.405	0.80722	D	1	B;D;P;D;D	0.89917	0.136;1.0;0.528;1.0;1.0	B;D;B;D;D	0.69307	0.038;0.963;0.078;0.938;0.938	D	0.87081	0.2166	10	0.87932	D	0	-36.4203	14.0517	0.64742	0.0:0.0:0.7585:0.2415	.	400;384;400;388;397	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	W	384;388;400;400;397	ENSP00000405088:R384W;ENSP00000349581:R388W;ENSP00000364028:R400W;ENSP00000388439:R400W;ENSP00000264205:R397W	ENSP00000264205:R397W	R	-	1	2	ECE1	21444149	0.016000	0.18221	1.000000	0.80357	0.940000	0.58332	0.348000	0.20031	1.296000	0.44742	0.561000	0.74099	CGG		0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		12	23	0	0	0	1	0	12	23				
MUC16	94025	broad.mit.edu	37	19	9066185	9066185	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9066185A>G	ENST00000397910.4	-	3	21464	c.21261T>C	c.(21259-21261)tcT>tcC	p.S7087S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7089	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAGAGGGAGAGCTTTGCC	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21259-21261)tcT>tcC		mucin 16, cell surface associated							143.0	145.0	144.0					19																	9066185		2021	4169	6190	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066185A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21261T>C	19.37:g.9066185A>G							p.S7087S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21464	-			7089			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21261T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	28	0	0	0	1	0	8	28				
PLK4	10733	broad.mit.edu	37	4	128807514	128807514	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128807514G>A	ENST00000270861.5	+	5	1263	c.989G>A	c.(988-990)aGt>aAt	p.S330N	PLK4_ENST00000515069.1_Missense_Mutation_p.S330N|PLK4_ENST00000513090.1_Missense_Mutation_p.S298N|PLK4_ENST00000507249.1_Missense_Mutation_p.S330N|PLK4_ENST00000514379.1_Missense_Mutation_p.S289N	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	330					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGAATAAAAGTTCAACTGAT	0.348																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(988-990)aGt>aAt		polo-like kinase 4							42.0	44.0	43.0					4																	128807514		2198	4297	6495	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128807514G>A	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.989G>A	4.37:g.128807514G>A	ENSP00000270861:p.Ser330Asn					PLK4_ENST00000507249.1_Missense_Mutation_p.S330N|PLK4_ENST00000515069.1_Missense_Mutation_p.S330N|PLK4_ENST00000513090.1_Missense_Mutation_p.S298N|PLK4_ENST00000514379.1_Missense_Mutation_p.S289N	p.S330N	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			5	1263	+			330					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.989G>A	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	1.768	-0.485056	0.04352	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.68331	-0.17;-0.19;-0.32;-0.17;-0.25	5.2	-1.77	0.07982	.	0.425847	0.28730	N	0.014339	T	0.17109	0.0411	N	0.00162	-1.95	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40117	-0.9580	10	0.12103	T	0.63	-7.9322	1.1739	0.01831	0.4969:0.1254:0.137:0.2408	.	298;330	O00444-2;O00444	.;PLK4_HUMAN	N	330;330;298;330;289	ENSP00000270861:S330N;ENSP00000421774:S330N;ENSP00000427554:S298N;ENSP00000423412:S330N;ENSP00000423582:S289N	ENSP00000270861:S330N	S	+	2	0	PLK4	129026964	0.973000	0.33851	0.511000	0.27724	0.501000	0.33797	1.350000	0.34010	-0.329000	0.08527	-0.302000	0.09304	AGT		0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			20	31	0	0	0	1	0	20	31				
OAS3	4940	broad.mit.edu	37	12	113388746	113388746	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113388746G>A	ENST00000228928.7	+	7	1802	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	541	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAGCTGGACGGATGTTAGCC	0.622																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1621-1623)acG>acA		2'-5'-oligoadenylate synthetase 3, 100kDa							55.0	57.0	57.0					12																	113388746		2039	4190	6229	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388746G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1623G>A	12.37:g.113388746G>A						RP1-71H24.1_ENST00000552784.1_RNA	p.T541T	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1802	+			541			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1623G>A	CCDS44981.1																																																																																				0.622	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			11	18	0	0	0	1	0	11	18				
C17orf98	388381	broad.mit.edu	37	17	36997589	36997589	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36997589G>A	ENST00000398575.4	-	1	119	c.54C>T	c.(52-54)gaC>gaT	p.D18D		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	18										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						CAGCCACCCCGTCCAAGATAA	0.647																																						ENST00000398575.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						c.(52-54)gaC>gaT		chromosome 17 open reading frame 98							40.0	43.0	42.0					17																	36997589		2037	4200	6237	SO:0001819	synonymous_variant	388381							g.chr17:36997589G>A	AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.54C>T	17.37:g.36997589G>A							p.D18D	NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN			1	119	-			18						Silent	SNP	ENST00000398575.4	37	c.54C>T	CCDS42310.1																																																																																				0.647	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255469.2	NM_001080465		13	13	0	0	0	1	0	13	13				
ZNF92	168374	broad.mit.edu	37	7	64864737	64864737	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:64864737C>T	ENST00000328747.7	+	4	1909	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ZNF92_ENST00000357512.2_Silent_p.G538G|ZNF92_ENST00000450302.2_Silent_p.G501G|ZNF92_ENST00000431504.1_Silent_p.G494G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	570					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATGAATGTGGCAGAGCCTTTA	0.328																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(1708-1710)ggC>ggT		zinc finger protein 92							44.0	50.0	48.0					7																	64864737		2200	4297	6497	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864737C>T	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1710C>T	7.37:g.64864737C>T						ZNF92_ENST00000431504.1_Silent_p.G494G|ZNF92_ENST00000357512.2_Silent_p.G538G|ZNF92_ENST00000450302.2_Silent_p.G501G	p.G570G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			4	1909	+		Lung NSC(55;0.159)	570					A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.1710C>T	CCDS34646.1																																																																																				0.328	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		26	51	0	0	0	1	0	26	51				
WDFY3	23001	broad.mit.edu	37	4	85738568	85738568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85738568G>A	ENST00000295888.4	-	13	2271	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.Q622*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	622					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCTTCAACTGCAATTCCGTC	0.418																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1864-1866)Cag>Tag		WD repeat and FYVE domain containing 3							132.0	136.0	135.0					4																	85738568		2203	4300	6503	SO:0001587	stop_gained	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85738568G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1864C>T	4.37:g.85738568G>A	ENSP00000295888:p.Gln622*					WDFY3_ENST00000295888.4_Nonsense_Mutation_p.Q622*	p.Q622*			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	13	2271	-		Hepatocellular(203;0.114)	622					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	c.1864C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	42	9.757874	0.99256	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000295888:Q622X	Q	-	1	0	WDFY3	85957592	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.300000	0.78841	2.698000	0.92095	0.563000	0.77884	CAG		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	130	0	0	0	1	0	6	130				
DHFR	1719	broad.mit.edu	37	5	79924946	79924946	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79924946C>T	ENST00000439211.2	-	6	1017	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.G123D|CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000505337.1_Missense_Mutation_p.G175D|DHFR_ENST00000511032.1_3'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTACTTAATGCCTTTCTCCTC	0.328																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(523-525)gGc>gAc		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						24.0	22.0	22.0					5																	79924946		1867	4123	5990	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79924946C>T		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.524G>A	5.37:g.79924946C>T	ENSP00000396308:p.Gly175Asp					DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.G175D|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.G123D	p.G175D	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	6	1017	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	175			DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.524G>A	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559494	0.65538	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000504396	T;T;T	0.71461	-0.57;-0.57;-0.57	5.1	5.1	0.69264	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.70996	0.3288	M	0.65498	2.005	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.39419	0.299;0.299	T	0.71794	-0.4485	8	.	.	.	0.0385	17.7128	0.88326	0.0:1.0:0.0:0.0	.	175;175	P00374;B0YJ76	DYR_HUMAN;.	D	175;175;123	ENSP00000396308:G175D;ENSP00000426474:G175D;ENSP00000421334:G123D	.	G	-	2	0	DHFR	79960702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.588000	0.60999	2.556000	0.86216	0.586000	0.80456	GGC		0.328	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		10	15	0	0	0	1	0	10	15				
RPL34	6164	broad.mit.edu	37	4	109543161	109543161	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:109543161G>A	ENST00000394668.2	+	2	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	RPL34_ENST00000394667.3_Missense_Mutation_p.A16T|RPL34_ENST00000502534.1_Missense_Mutation_p.A16T|RPL34_ENST00000394665.1_Missense_Mutation_p.A16T|RPL34_ENST00000506397.1_Missense_Mutation_p.A16T|RPL34-AS1_ENST00000507248.1_lincRNA	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	16					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		CTACAATACAGCCTCTAACAA	0.348																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(46-48)Gcc>Acc		ribosomal protein L34							53.0	55.0	54.0					4																	109543161		2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543161G>A	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.46G>A	4.37:g.109543161G>A	ENSP00000378163:p.Ala16Thr					RPL34_ENST00000502534.1_Missense_Mutation_p.A16T|RPL34_ENST00000394665.1_Missense_Mutation_p.A16T|RPL34_ENST00000506397.1_Missense_Mutation_p.A16T|RPL34_ENST00000394667.3_Missense_Mutation_p.A16T	p.A16T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	2	112	+		Hepatocellular(203;0.217)	16					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.46G>A	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007664	0.75046	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	4.96	4.96	0.65561	Ribosomal protein L34e, conserved site (1);	0.052455	0.85682	D	0.000000	T	0.52354	0.1729	L	0.28504	0.86	0.80722	D	1	P	0.36162	0.54	B	0.42138	0.377	T	0.46512	-0.9186	9	0.22706	T	0.39	.	18.1803	0.89776	0.0:0.0:1.0:0.0	.	16	P49207	RL34_HUMAN	T	16	.	ENSP00000378160:A16T	A	+	1	0	RPL34	109762610	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.355000	0.73041	2.438000	0.82558	0.655000	0.94253	GCC		0.348	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		20	87	0	0	0	1	0	20	87				
ABHD16A	7920	broad.mit.edu	37	6	31659444	31659444	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31659444C>T	ENST00000395952.3	-	9	917	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ABHD16A_ENST00000375842.4_Missense_Mutation_p.R33Q|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'Flank|ABHD16A_ENST00000440843.2_Missense_Mutation_p.R219Q	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	252						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAGCTTTGCCCGGCGCCCATT	0.627																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(97-99)cGg>cAg		abhydrolase domain containing 16A							52.0	49.0	50.0					6																	31659444		1510	2709	4219	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31659444C>T	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.755G>A	6.37:g.31659444C>T	ENSP00000379282:p.Arg252Gln					ABHD16A_ENST00000440843.2_Missense_Mutation_p.R219Q|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.R252Q	p.R33Q			O95870	ABHGA_HUMAN			9	1084	-			252					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.98G>A	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975052	0.97162	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70716	0.97;0.806	T	0.78775	-0.2072	9	0.56958	D	0.05	-26.1488	17.3306	0.87262	0.0:1.0:0.0:0.0	.	219;252	B7Z4R6;O95870	.;ABHGA_HUMAN	Q	252;33;219	.	ENSP00000365002:R33Q	R	-	2	0	ABHD16A	31767423	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.913000	0.75759	2.763000	0.94921	0.650000	0.86243	CGG		0.627	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			10	13	0	0	0	1	0	10	13				
PFKP	5214	broad.mit.edu	37	10	3124650	3124650	+	Silent	SNP	C	C	T	rs542187326		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:3124650C>T	ENST00000381125.4	+	2	259	c.183C>T	c.(181-183)taC>taT	p.Y61Y	PFKP_ENST00000381075.2_Nonsense_Mutation_p.R27*|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	61	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ACTTCATCTACGAGGTCAGTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16299	0.0		0.0	False		,,,				2504	0.001					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(79-81)Cga>Tga		phosphofructokinase, platelet							135.0	96.0	109.0					10																	3124650		2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3124650C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.183C>T	10.37:g.3124650C>T						PFKP_ENST00000381125.4_Silent_p.Y61Y	p.R27*	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	3	303	+			0					B3KS15|Q5VSR7|Q5VSR8	Nonsense_Mutation	SNP	ENST00000381125.4	37	c.79C>T	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572352	0.96553	.	.	ENSG00000067057	ENST00000397834;ENST00000381075	.	.	.	4.31	-2.62	0.06152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	9.0312	0.36260	0.0:0.4805:0.0:0.5195	.	.	.	.	X	24;27	.	ENSP00000370465:R27X	R	+	1	2	PFKP	3114650	0.992000	0.36948	0.952000	0.39060	0.682000	0.39822	0.040000	0.13905	-0.566000	0.06054	-1.261000	0.01458	CGA		0.632	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		14	34	0	0	0	1	0	14	34				
TP73	7161	broad.mit.edu	37	1	3643784	3643784	+	Missense_Mutation	SNP	C	C	T	rs375226336		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:3643784C>T	ENST00000378295.4	+	7	993	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	TP73_ENST00000378290.4_Missense_Mutation_p.R209W|TP73_ENST00000346387.4_Missense_Mutation_p.R280W|TP73_ENST00000378285.1_Missense_Mutation_p.R231W|TP73_ENST00000604479.1_Missense_Mutation_p.R280W|TP73_ENST00000604074.1_Missense_Mutation_p.R280W|TP73_ENST00000603362.1_Missense_Mutation_p.R280W|TP73_ENST00000378280.1_Missense_Mutation_p.R231W|TP73_ENST00000378288.4_Missense_Mutation_p.R231W|TP73_ENST00000354437.4_Missense_Mutation_p.R280W|TP73_ENST00000357733.3_Missense_Mutation_p.R280W	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	280	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCTGGAGATGCGGGAGTGAGT	0.627																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(838-840)Cgg>Tgg		tumor protein p73			TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	59.0	50.0	53.0		691,691,691,838,838,838,838,838,691,691,691,625,838	2.5	1.0	1		53	0,8590		0,0,4295	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	TP73	NM_001126240.2,NM_001126241.2,NM_001126242.2,NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_001204189.1,NM_001204190.1,NM_001204191.1,NM_001204192.1,NM_005427.3	101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	231/588,231/451,231/427,280/500,280/476,280/404,280/556,280/541,231/355,231/507,231/492,209/566,280/637	3643784	1,12983	2197	4295	6492	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3643784C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.838C>T	1.37:g.3643784C>T	ENSP00000367545:p.Arg280Trp					TP73_ENST00000603362.1_Missense_Mutation_p.R280W|TP73_ENST00000378290.4_Missense_Mutation_p.R209W|TP73_ENST00000378288.4_Missense_Mutation_p.R231W|TP73_ENST00000357733.3_Missense_Mutation_p.R280W|TP73_ENST00000354437.4_Missense_Mutation_p.R280W|TP73_ENST00000346387.4_Missense_Mutation_p.R280W|TP73_ENST00000604479.1_Missense_Mutation_p.R280W|TP73_ENST00000378280.1_Missense_Mutation_p.R231W|TP73_ENST00000378285.1_Missense_Mutation_p.R231W|TP73_ENST00000604074.1_Missense_Mutation_p.R280W	p.R280W	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	7	993	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	280			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.838C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823477	0.50739	2.28E-4	0.0	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	3.48	2.45	0.29901	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111299	0.64402	D	0.000015	D	0.99387	0.9784	L	0.47716	1.5	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;D;D	0.67900	0.849;0.954;0.678;0.758;0.934;0.924	D	0.97590	1.0116	10	0.87932	D	0	-35.1764	8.4149	0.32666	0.4318:0.5682:0.0:0.0	.	231;231;231;231;280;280	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	W	280;280;280;280;231;231;231;209	ENSP00000367545:R280W;ENSP00000346423:R280W;ENSP00000350366:R280W;ENSP00000340740:R280W;ENSP00000367537:R231W;ENSP00000367534:R231W;ENSP00000367529:R231W;ENSP00000367539:R209W	ENSP00000340740:R280W	R	+	1	2	TP73	3633644	0.922000	0.31269	0.997000	0.53966	0.450000	0.32258	1.361000	0.34136	1.947000	0.56498	0.472000	0.43445	CGG		0.627	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		13	19	0	0	0	1	0	13	19				
XIRP2	129446	broad.mit.edu	37	2	168107609	168107609	+	Missense_Mutation	SNP	C	C	A	rs375611135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168107609C>A	ENST00000409195.1	+	9	9796	c.9707C>A	c.(9706-9708)cCt>cAt	p.P3236H	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3061					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTCTCCACCTACAATCACA	0.438																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9706-9708)cCt>cAt		xin actin-binding repeat containing 2							60.0	57.0	58.0					2																	168107609		1868	4124	5992	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107609C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9707C>A	2.37:g.168107609C>A	ENSP00000386840:p.Pro3236His					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000409043.1_Intron	p.P3236H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9796	+			3061					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9707C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577615	0.65878	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	5.18	5.18	0.71444	.	0.544540	0.20212	N	0.096866	T	0.15046	0.0363	M	0.67953	2.075	0.42608	D	0.993302	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.00053	-1.2186	10	0.72032	D	0.01	-13.5698	18.3448	0.90318	0.0:1.0:0.0:0.0	.	3061;3061;3014	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3236;3236;3014;650	ENSP00000386840:P3236H;ENSP00000295237:P3236H;ENSP00000387255:P3014H	ENSP00000295237:P3236H	P	+	2	0	XIRP2	167815855	0.113000	0.22115	0.989000	0.46669	0.876000	0.50452	2.062000	0.41413	2.805000	0.96524	0.460000	0.39030	CCT		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	50	1	0	0.150653	1	0.151081	4	50				
PARP8	79668	broad.mit.edu	37	5	50137867	50137867	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:50137867C>A	ENST00000281631.5	+	26	2688	c.2530C>A	c.(2530-2532)Ctc>Atc	p.L844I	PARP8_ENST00000505554.1_Missense_Mutation_p.L823I|PARP8_ENST00000503750.2_Missense_Mutation_p.L802I|PARP8_ENST00000505697.2_Missense_Mutation_p.L844I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.L802I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	844	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAGAGATCCTCCGAGTAAT	0.368																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2530-2532)Ctc>Atc		poly (ADP-ribose) polymerase family, member 8							85.0	80.0	82.0					5																	50137867		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50137867C>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2530C>A	5.37:g.50137867C>A	ENSP00000281631:p.Leu844Ile					PARP8_ENST00000505554.1_Missense_Mutation_p.L823I|PARP8_ENST00000503750.2_Missense_Mutation_p.L802I|PARP8_ENST00000505697.2_Missense_Mutation_p.L844I|PARP8_ENST00000514067.2_Missense_Mutation_p.L802I|PARP8_ENST00000511363.2_3'UTR	p.L844I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			26	2688	+		Lung NSC(810;0.0305)|Breast(144;0.222)	844			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2530C>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380883	0.82792	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	6.08	6.08	0.98989	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.74473	0.3721	L	0.44542	1.39	0.80722	D	1	P;D;P	0.56035	0.956;0.974;0.956	D;D;D	0.70487	0.931;0.969;0.931	T	0.68849	-0.5300	8	.	.	.	-15.0172	20.6634	0.99662	0.0:1.0:0.0:0.0	.	736;802;844	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	844;802;844;802;823	.	.	L	+	1	0	PARP8	50173624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.412000	0.52679	2.894000	0.99253	0.655000	0.94253	CTC		0.368	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		25	43	1	0	1.66031e-10	1	1.77558e-10	25	43				
MPP6	51678	broad.mit.edu	37	7	24705640	24705640	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:24705640G>A	ENST00000222644.5	+	8	1134	c.884G>A	c.(883-885)gGa>gAa	p.G295E	MPP6_ENST00000396475.2_Splice_Site_p.G295E|MPP6_ENST00000409761.1_Splice_Site_p.G183E			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CATCCTTCAGGACCTTTTTGT	0.328																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.e9-1		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)							82.0	95.0	91.0					7																	24705640		2202	4297	6499	SO:0001630	splice_region_variant	51678				protein complex assembly		protein binding	g.chr7:24705640G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.884-1G>A	7.37:g.24705640G>A						MPP6_ENST00000222644.4_Splice_Site_p.G295_splice|MPP6_ENST00000409761.1_Splice_Site_p.G183_splice	p.G295_splice	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1183	+			295					B2RAF0	Splice_Site	SNP	ENST00000222644.5	37	c.883_splice	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431472	0.43122	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.32	5.32	0.75619	Src homology-3 domain (1);	0.000000	0.53938	D	0.000054	T	0.74627	0.3741	N	0.25332	0.735	0.80722	D	1	B	0.28378	0.209	B	0.24701	0.055	T	0.70085	-0.4969	9	.	.	.	.	18.9769	0.92740	0.0:0.0:1.0:0.0	.	295	Q9NZW5	MPP6_HUMAN	E	295;183;295;295	ENSP00000222644:G295E;ENSP00000386262:G183E;ENSP00000379737:G295E;ENSP00000391020:G295E	.	G	+	2	0	MPP6	24672165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.477000	0.83638	0.591000	0.81541	GGA		0.328	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		Missense_Mutation	31	42	0	0	0	1	0	31	42				
CCDC120	90060	broad.mit.edu	37	X	48924841	48924841	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:48924841G>T	ENST00000376396.3	+	10	1305	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	CCDC120_ENST00000496529.2_Missense_Mutation_p.E362D|CCDC120_ENST00000536628.2_Missense_Mutation_p.E350D|CCDC120_ENST00000597275.1_Missense_Mutation_p.E362D|CCDC120_ENST00000422185.2_Missense_Mutation_p.E362D|CCDC120_ENST00000603986.1_Missense_Mutation_p.E397D	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	362										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ACAGTTCTGAGGCCCTGCTGG	0.721																																						ENST00000376396.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1084-1086)gaG>gaT		coiled-coil domain containing 120							14.0	14.0	14.0					X																	48924841		2181	4230	6411	SO:0001583	missense	90060						protein binding	g.chrX:48924841G>T	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1086G>T	X.37:g.48924841G>T	ENSP00000365577:p.Glu362Asp					CCDC120_ENST00000597275.1_Missense_Mutation_p.E362D|CCDC120_ENST00000603986.1_Missense_Mutation_p.E397D|CCDC120_ENST00000536628.2_Missense_Mutation_p.E350D|CCDC120_ENST00000496529.2_Missense_Mutation_p.E362D|CCDC120_ENST00000422185.2_Missense_Mutation_p.E362D	p.E362D	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN			10	1305	+			362					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.1086G>T	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261468	0.59431	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.28	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	L	0.37850	1.14	0.45502	D	0.998465	P;D;D;D	0.64830	0.956;0.994;0.994;0.994	D;D;D;D	0.70716	0.931;0.97;0.97;0.97	T	0.57831	-0.7743	9	0.42905	T	0.14	-19.1501	8.4137	0.32659	0.19:0.0:0.81:0.0	.	350;397;350;362	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	D	362;362;350	.	ENSP00000365577:E362D	E	+	3	2	CCDC120	48811785	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.901000	0.48695	0.442000	0.26555	0.529000	0.55759	GAG		0.721	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		4	4	1	0	0.217242	1	0.217582	4	4				
ATP11C	286410	broad.mit.edu	37	X	138820132	138820132	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:138820132G>A	ENST00000327569.3	-	28	3338	c.3240C>T	c.(3238-3240)agC>agT	p.S1080S	ATP11C_ENST00000370543.1_Silent_p.S1080S|ATP11C_ENST00000359686.2_Silent_p.S1080S|ATP11C_ENST00000361648.2_Silent_p.S1080S|ATP11C_ENST00000370557.1_Silent_p.S1074S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1080					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGGGAACAGGCTGATAAATA	0.378																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(3220-3222)agC>agT		ATPase, class VI, type 11C							79.0	72.0	75.0					X																	138820132		2203	4299	6502	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138820132G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3240C>T	X.37:g.138820132G>A						ATP11C_ENST00000361648.2_Silent_p.S1080S|ATP11C_ENST00000359686.2_Silent_p.S1080S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.S1080S|ATP11C_ENST00000327569.3_Silent_p.S1080S	p.S1074S			Q8NB49	AT11C_HUMAN			28	4249	-	Acute lymphoblastic leukemia(192;0.000127)		1080					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.3222C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385505	0.11524	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.82	4.05	0.47172	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54781	-0.8242	4	.	.	.	.	7.88	0.29616	0.25:0.0:0.7499:0.0	.	.	.	.	S	113	.	.	P	-	1	0	ATP11C	138647798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.311000	0.51919	1.226000	0.43582	0.600000	0.82982	CCT		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		14	44	0	0	0	1	0	14	44				
RELN	5649	broad.mit.edu	37	7	103244918	103244918	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103244918G>A	ENST00000428762.1	-	23	3180	c.3021C>T	c.(3019-3021)acC>acT	p.T1007T	RELN_ENST00000424685.2_Silent_p.T1007T|RELN_ENST00000343529.5_Silent_p.T1007T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1007					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCGGAAACGGGTAGCACTGG	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3019-3021)acC>acT		reelin							116.0	95.0	102.0					7																	103244918		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103244918G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3021C>T	7.37:g.103244918G>A						RELN_ENST00000343529.5_Silent_p.T1007T|RELN_ENST00000428762.1_Silent_p.T1007T	p.T1007T			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	23	3180	-			1007					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3021C>T	CCDS47680.1																																																																																				0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		24	29	0	0	0	1	0	24	29				
CACNA1G	8913	broad.mit.edu	37	17	48693726	48693726	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48693726C>T	ENST00000359106.5	+	28	5002	c.5002C>T	c.(5002-5004)Cgt>Tgt	p.R1668C	CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1675C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1623C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1634C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1623C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1650C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1645C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1616C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1627C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1645C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1611C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1668C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1650C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1668					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTTGGTTTCCGTCGGTTCTT	0.488																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4900-4902)Cgt>Tgt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						101.0	98.0	99.0					17																	48693726		1878	4102	5980	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48693726C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5002C>T	17.37:g.48693726C>T	ENSP00000352011:p.Arg1668Cys					CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1623C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1668C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1675C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1616C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1634C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1634C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1623C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1627C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1645C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1645C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1650C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1657C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1668C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1668C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1611C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1650C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1634C	p.R1634C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		26	5272	+	Breast(11;6.7e-17)		1668					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4900C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	27.4	4.826651	0.90955	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.07	5.07	0.68467	Ion transport (1);	0.237476	0.43747	D	0.000524	D	0.98651	0.9548	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.992;0.999;0.999;0.999;1.0;0.999;0.999;1.0;0.999;0.996;1.0;0.988;0.994;1.0;0.999;0.985;0.996;0.983;1.0;1.0;0.997;0.995;1.0;0.99;0.998	D	0.99870	1.1095	10	0.87932	D	0	.	18.4852	0.90825	0.0:1.0:0.0:0.0	.	1611;1623;1616;1650;1623;1650;1675;1634;1668;1657;1668;1645;1657;1657;1650;1657;1668;1645;1668;1634;1627;1634;1645;1668;1634	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	C	1645;1634;1634;1627;1645;1657;1623;1611;1616;1634;1668;1657;1623;1668;1634;1668;1650;1657;1675;1634;1668;1650;1650;1668;1657	ENSP00000353990:R1645C;ENSP00000339302:R1634C;ENSP00000347078:R1634C;ENSP00000409759:R1627C;ENSP00000425522:R1645C;ENSP00000426261:R1657C;ENSP00000425451:R1623C;ENSP00000422407:R1611C;ENSP00000426814:R1616C;ENSP00000427238:R1634C;ENSP00000423112:R1668C;ENSP00000420918:R1657C;ENSP00000426172:R1623C;ENSP00000423045:R1668C;ENSP00000427173:R1634C;ENSP00000426098:R1668C;ENSP00000425698:R1650C;ENSP00000426232:R1657C;ENSP00000423317:R1675C;ENSP00000350979:R1634C;ENSP00000352011:R1668C;ENSP00000414388:R1650C;ENSP00000423155:R1650C;ENSP00000422268:R1668C;ENSP00000421518:R1657C	ENSP00000339302:R1634C	R	+	1	0	CACNA1G	46048725	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.869000	0.69613	2.358000	0.79984	0.650000	0.86243	CGT		0.488	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		22	28	0	0	0	1	0	22	28				
ARHGAP30	257106	broad.mit.edu	37	1	161017764	161017764	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:161017764C>T	ENST00000368013.3	-	12	3367	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R839Q|USF1_ENST00000368021.3_5'Flank|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R805Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1016					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGGGTTCGCCGAACTCCTTG	0.587																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3046-3048)cGg>cAg		Rho GTPase activating protein 30							70.0	70.0	70.0					1																	161017764		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017764C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3047G>A	1.37:g.161017764C>T	ENSP00000356992:p.Arg1016Gln					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R839Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R805Q	p.R1016Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3367	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		1016					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.3047G>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380544	0.61845	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.37058	2.7;2.73;1.22	4.17	2.17	0.27698	.	0.180903	0.25925	N	0.027416	T	0.21186	0.0510	M	0.67953	2.075	0.21416	N	0.999694	D;B	0.65815	0.995;0.129	P;B	0.47864	0.559;0.01	T	0.10337	-1.0634	10	0.72032	D	0.01	.	4.5231	0.11969	0.211:0.665:0.0:0.1241	.	1016;805	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	Q	805;1016;839	ENSP00000356995:R805Q;ENSP00000356992:R1016Q;ENSP00000356994:R839Q	ENSP00000356992:R1016Q	R	-	2	0	ARHGAP30	159284388	0.985000	0.35326	1.000000	0.80357	0.981000	0.71138	1.277000	0.33167	0.325000	0.23359	0.455000	0.32223	CGG		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		15	19	0	0	0	1	0	15	19				
ZNF833P	401898	broad.mit.edu	37	19	11762620	11762620	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11762620C>T	ENST00000344893.3	+	0	632					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GTGGATCATTCATCTCTGAAT	0.438																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11762620C>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11762620C>T								NR_028594.1						0	632	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.438	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		4	16	0	0	0	1	0	4	16				
CES2	8824	broad.mit.edu	37	16	66974233	66974233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66974233C>T	ENST00000317091.4	+	4	1708	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.R242C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	178					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CATCCAGTACCGCCTGGGTGT	0.607																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(724-726)Cgc>Tgc		carboxylesterase 2							213.0	174.0	187.0					16																	66974233		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66974233C>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.724C>T	16.37:g.66974233C>T	ENSP00000317842:p.Arg242Cys					CES2_ENST00000417689.1_Missense_Mutation_p.R242C	p.R242C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	4	1708	+		Ovarian(137;0.0563)	178					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.724C>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382393	0.82792	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	D;D	0.90788	-2.73;-2.73	5.29	3.22	0.36961	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000005	D	0.96975	0.9012	H	0.99642	4.675	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95221	0.8334	10	0.87932	D	0	.	6.2758	0.20979	0.2945:0.6123:0.0:0.0932	.	178;242	O00748;A8K367	EST2_HUMAN;.	C	242	ENSP00000394452:R242C;ENSP00000317842:R242C	ENSP00000317842:R242C	R	+	1	0	CES2	65531734	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.835000	0.27531	1.475000	0.48197	0.650000	0.86243	CGC		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		7	51	0	0	0	1	0	7	51				
PTRF	284119	broad.mit.edu	37	17	40557039	40557039	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:40557039C>T	ENST00000357037.5	-	2	1258	c.839G>A	c.(838-840)cGc>cAc	p.R280H		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGGCACCAGGCGCGTGCCCAG	0.637																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(838-840)cGc>cAc		polymerase I and transcript release factor							96.0	85.0	89.0					17																	40557039		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557039C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.839G>A	17.37:g.40557039C>T	ENSP00000349541:p.Arg280His						p.R280H	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1258	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	280						Missense_Mutation	SNP	ENST00000357037.5	37	c.839G>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629869	0.87660	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62498	0.02	5.81	4.79	0.61399	.	0.195430	0.39759	N	0.001276	T	0.64918	0.2642	L	0.49778	1.585	0.35720	D	0.817102	D;D	0.69078	0.997;0.997	P;P	0.59703	0.862;0.862	T	0.73157	-0.4071	10	0.87932	D	0	-17.3842	3.7874	0.08705	0.215:0.6044:0.0:0.1807	.	262;280	B4DNU9;Q6NZI2	.;PTRF_HUMAN	H	280;235	ENSP00000349541:R280H	ENSP00000349541:R280H	R	-	2	0	PTRF	37810565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.999000	0.49473	2.755000	0.94549	0.544000	0.68410	CGC		0.637	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		21	28	0	0	0	1	0	21	28				
CTNNA3	29119	broad.mit.edu	37	10	68940084	68940084	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68940084G>A	ENST00000433211.2	-	7	1212	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	CTNNA3_ENST00000373744.4_Silent_p.Y346Y|CTNNA3_ENST00000545309.1_Silent_p.Y346Y	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CGTTGTTCATGTACTCTGAAA	0.483																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1036-1038)taC>taT		catenin (cadherin-associated protein), alpha 3							110.0	97.0	101.0					10																	68940084		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940084G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1038C>T	10.37:g.68940084G>A						CTNNA3_ENST00000373744.4_Silent_p.Y346Y|CTNNA3_ENST00000545309.1_Silent_p.Y346Y|CTNNA3_ENST00000494580.1_5'UTR	p.Y346Y	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1212	-			346						Silent	SNP	ENST00000433211.2	37	c.1038C>T	CCDS7269.1																																																																																				0.483	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		12	17	0	0	0	1	0	12	17				
CHPF2	54480	broad.mit.edu	37	7	150935155	150935155	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150935155G>T	ENST00000035307.2	+	4	3220	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.E561D	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCGAGCAGAGGCCCCTTCCC	0.627																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1705-1707)gaG>gaT		chondroitin polymerizing factor 2							35.0	38.0	37.0					7																	150935155		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935155G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1707G>T	7.37:g.150935155G>T	ENSP00000035307:p.Glu569Asp					CHPF2_ENST00000495645.1_Missense_Mutation_p.E561D	p.E569D	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3220	+			569					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1707G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239838	0.22711	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16324	2.35;2.35	4.71	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.28740	0.885	0.53688	D	0.999973	B;B	0.23058	0.046;0.079	B;B	0.29524	0.103;0.035	T	0.10474	-1.0628	10	0.17369	T	0.5	-25.1034	10.28	0.43534	0.165:0.0:0.835:0.0	.	569;561	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	D	561;569;569	ENSP00000418914:E561D;ENSP00000035307:E569D	ENSP00000035307:E569D	E	+	3	2	CHPF2	150566088	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.164000	0.42387	1.210000	0.43336	-0.225000	0.12378	GAG		0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		7	43	1	0	0.00307968	1	0.00311927	7	43				
TET3	200424	broad.mit.edu	37	2	74327797	74327797	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74327797C>T	ENST00000409262.3	+	9	3477	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1159					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGCAACCCCGTCTTCCCCT	0.577																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3475-3477)ccC>ccT		tet methylcytosine dioxygenase 3							74.0	76.0	75.0					2																	74327797		2098	4205	6303	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74327797C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3477C>T	2.37:g.74327797C>T							p.P1159P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	3477	+			1159					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.3477C>T	CCDS46339.1																																																																																				0.577	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			11	22	0	0	0	1	0	11	22				
ANO1	55107	broad.mit.edu	37	11	70009407	70009407	+	Silent	SNP	C	C	T	rs377487688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70009407C>T	ENST00000355303.5	+	19	2216	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	ANO1_ENST00000531349.1_Silent_p.G346G|ANO1_ENST00000530676.1_Silent_p.G491G|ANO1_ENST00000398543.2_Silent_p.G491G|ANO1_ENST00000538023.1_Silent_p.G637G|ANO1_ENST00000316296.5_Silent_p.G579G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	637					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GACGCCCGGGCGACTACGTGT	0.527																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1909-1911)ggC>ggT		anoctamin 1, calcium activated chloride channel		T		0,3874		0,0,1937	61.0	64.0	63.0		1911	-10.2	0.1	11		63	1,8251		0,1,4125	no	coding-synonymous	ANO1	NM_018043.5		0,1,6062	TT,TC,CC		0.0121,0.0,0.0082		637/987	70009407	1,12125	1937	4126	6063	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009407C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1911C>T	11.37:g.70009407C>T						ANO1_ENST00000398543.2_Silent_p.G491G|ANO1_ENST00000530676.1_Silent_p.G491G|ANO1_ENST00000531349.1_Silent_p.G346G|ANO1_ENST00000316296.5_Silent_p.G579G|ANO1_ENST00000538023.1_Silent_p.G637G	p.G637G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			19	2216	+			637					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1911C>T	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	44	0	0	0	1	0	20	44				
PKHD1L1	93035	broad.mit.edu	37	8	110456103	110456103	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:110456103G>A	ENST00000378402.5	+	37	4867	c.4763G>A	c.(4762-4764)gGc>gAc	p.G1588D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGACATGGCTTTAGTAAT	0.328										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4762-4764)gGc>gAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							100.0	96.0	97.0					8																	110456103		1820	4078	5898	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456103G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4763G>A	8.37:g.110456103G>A	ENSP00000367655:p.Gly1588Asp	HNSCC(38;0.096)					p.G1588D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4867	+			1588			IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4763G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192672	0.78902	.	.	ENSG00000205038	ENST00000378402	T	0.78816	-1.21	5.77	5.77	0.91146	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.131077	0.49916	D	0.000130	D	0.88198	0.6372	M	0.77103	2.36	0.29701	N	0.840194	D	0.67145	0.996	D	0.74674	0.984	D	0.84850	0.0813	10	0.59425	D	0.04	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1588	Q86WI1	PKHL1_HUMAN	D	1588	ENSP00000367655:G1588D	ENSP00000367655:G1588D	G	+	2	0	PKHD1L1	110525279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.441000	0.52893	2.884000	0.98904	0.655000	0.94253	GGC		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		29	36	0	0	0	1	0	29	36				
MIR193BHG	100129781	broad.mit.edu	37	16	14397837	14397837	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:14397837C>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							GTCTCAGAATCGGGGTTTTGA	0.562																																						ENST00000570945.1																			0																				169.0	170.0	170.0					16																	14397837		1568	3582	5150			0							g.chr16:14397837C>T																													16.37:g.14397837C>T						MIR193B_ENST00000384907.1_RNA								0	310	+									RNA	SNP	ENST00000570945.1	37																																																																																						0.562	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			56	96	0	0	0	1	0	56	96				
ZWINT	11130	broad.mit.edu	37	10	58119553	58119553	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:58119553G>A	ENST00000373944.3	-	4	356	c.318C>T	c.(316-318)caC>caT	p.H106H	ZWINT_ENST00000395405.1_Silent_p.H106H|ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000361148.6_Silent_p.H106H			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	106	Interaction with NDC80 and ZW10.				establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TGGCCTCTACGTGCTCCCTGT	0.542																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(316-318)caC>caT		ZW10 interacting kinetochore protein							112.0	101.0	105.0					10																	58119553		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58119553G>A	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.318C>T	10.37:g.58119553G>A						ZWINT_ENST00000395405.1_Silent_p.H106H|ZWINT_ENST00000361148.6_Silent_p.H106H	p.H106H			O95229	ZWINT_HUMAN			4	356	-			106			Interaction with NDC80 and ZW10.		A6NNV6|Q0D2I3|Q9BWD0	Silent	SNP	ENST00000373944.3	37	c.318C>T	CCDS7249.1																																																																																				0.542	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			26	43	0	0	0	1	0	26	43				
DLK2	65989	broad.mit.edu	37	6	43418543	43418543	+	Missense_Mutation	SNP	G	G	A	rs139041633		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43418543G>A	ENST00000357338.3	-	6	1586	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	DLK2_ENST00000372488.3_Missense_Mutation_p.R296W|DLK2_ENST00000414245.1_Missense_Mutation_p.R290W|DLK2_ENST00000372485.1_Missense_Mutation_p.R290W	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	296					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTTGCCTCCGCACCACCTCC	0.657																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(886-888)Cgg>Tgg		delta-like 2 homolog (Drosophila)		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		886,886	5.1	1.0	6	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense	DLK2	NM_023932.2,NM_206539.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	296/384,296/384	43418543	1,13005	2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418543G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.886C>T	6.37:g.43418543G>A	ENSP00000349893:p.Arg296Trp					DLK2_ENST00000414245.1_Missense_Mutation_p.R290W|DLK2_ENST00000372485.1_Missense_Mutation_p.R290W|DLK2_ENST00000372488.3_Missense_Mutation_p.R296W	p.R296W	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1586	-	all_lung(25;0.00536)		296					B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.886C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577202	0.65878	2.27E-4	0.0	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.89939	-2.59;-2.57;-2.57;-2.59	5.09	5.09	0.68999	.	0.234649	0.27482	N	0.019180	D	0.84955	0.5587	N	0.24115	0.695	0.32906	D	0.513828	D	0.76494	0.999	P	0.60609	0.877	D	0.86504	0.1805	10	0.66056	D	0.02	.	11.7976	0.52108	0.0:0.0:0.6983:0.3017	.	296	Q6UY11	DLK2_HUMAN	W	290;296;296;290	ENSP00000361563:R290W;ENSP00000361566:R296W;ENSP00000349893:R296W;ENSP00000398906:R290W	ENSP00000349893:R296W	R	-	1	2	DLK2	43526521	0.897000	0.30589	1.000000	0.80357	0.951000	0.60555	1.195000	0.32186	2.377000	0.81083	0.462000	0.41574	CGG		0.657	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		20	30	0	0	0	1	0	20	30				
FZD2	2535	broad.mit.edu	37	17	42636313	42636313	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:42636313G>A	ENST00000315323.3	+	1	1389	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	419					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTAGCGCCGCTCTTCGTGT	0.652																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1255-1257)ccG>ccA		frizzled family receptor 2							89.0	86.0	87.0					17																	42636313		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636313G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1257G>A	17.37:g.42636313G>A							p.P419P	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1389	+		Prostate(33;0.0181)	419					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1257G>A	CCDS11484.1																																																																																				0.652	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		4	75	0	0	0	1	0	4	75				
SENP6	26054	broad.mit.edu	37	6	76388358	76388358	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76388358A>T	ENST00000447266.2	+	15	2386	c.1908A>T	c.(1906-1908)gaA>gaT	p.E636D	SENP6_ENST00000370014.3_Missense_Mutation_p.E636D|SENP6_ENST00000541192.1_Missense_Mutation_p.E232D|SENP6_ENST00000327284.8_Missense_Mutation_p.E629D|SENP6_ENST00000370010.2_Missense_Mutation_p.E629D	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	636					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTTTGATGAAGAAGAAGAAA	0.313																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1906-1908)gaA>gaT		SUMO1/sentrin specific peptidase 6							123.0	117.0	119.0					6																	76388358		1797	4070	5867	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76388358A>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1908A>T	6.37:g.76388358A>T	ENSP00000402527:p.Glu636Asp					SENP6_ENST00000370010.2_Missense_Mutation_p.E629D|SENP6_ENST00000447266.2_Missense_Mutation_p.E636D|SENP6_ENST00000327284.8_Missense_Mutation_p.E629D|SENP6_ENST00000541192.1_Missense_Mutation_p.E232D	p.E636D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			15	2527	+		all_hematologic(105;0.189)	636					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1908A>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	6.105	0.387690	0.11581	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.27256	2.94;2.94;1.79;2.92;1.79;1.68	5.71	-1.47	0.08772	.	0.133316	0.64402	N	0.000003	T	0.01092	0.0036	N	0.00801	-1.175	0.23893	N	0.996542	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.39210	-0.9625	10	0.02654	T	1	-10.2695	3.1146	0.06370	0.2173:0.0619:0.2124:0.5083	.	629;636;629	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	D	629;636;629;636;526;232	ENSP00000359027:E629D;ENSP00000359031:E636D;ENSP00000321820:E629D;ENSP00000402527:E636D;ENSP00000391426:E526D;ENSP00000441715:E232D	ENSP00000321820:E629D	E	+	3	2	SENP6	76445078	0.998000	0.40836	0.996000	0.52242	0.985000	0.73830	0.251000	0.18257	0.075000	0.16796	-0.339000	0.08088	GAA		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		51	51	0	0	0	1	0	51	51				
FLT4	2324	broad.mit.edu	37	5	180036931	180036931	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180036931T>C	ENST00000261937.6	-	28	3859	c.3781A>G	c.(3781-3783)Acc>Gcc	p.T1261A	FLT4_ENST00000502649.1_Missense_Mutation_p.T1261A|FLT4_ENST00000393347.3_Missense_Mutation_p.T1261A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1261					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCGTTGGGGTCATGGGGAAT	0.612																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3781-3783)Acc>Gcc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						141.0	131.0	135.0					5																	180036931		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180036931T>C	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3781A>G	5.37:g.180036931T>C	ENSP00000261937:p.Thr1261Ala					FLT4_ENST00000502649.1_Missense_Mutation_p.T1261A|FLT4_ENST00000393347.3_Missense_Mutation_p.T1261A	p.T1261A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	28	3859	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1261					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3781A>G	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	7.521	0.656677	0.14580	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76186	-1.0;-0.96;-0.95	4.79	3.62	0.41486	.	.	.	.	.	T	0.61615	0.2361	L	0.41027	1.25	0.42359	D	0.992407	B;B	0.21606	0.011;0.058	B;B	0.18871	0.004;0.023	T	0.53265	-0.8463	9	0.25751	T	0.34	.	7.9145	0.29810	0.0:0.1614:0.0:0.8386	.	1261;1261	E9PD35;P35916	.;VGFR3_HUMAN	A	1261	ENSP00000261937:T1261A;ENSP00000377016:T1261A;ENSP00000426057:T1261A	ENSP00000261937:T1261A	T	-	1	0	FLT4	179969537	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	1.857000	0.39399	0.804000	0.34136	0.459000	0.35465	ACC		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			30	37	0	0	0	1	0	30	37				
CAMKK1	84254	broad.mit.edu	37	17	3783724	3783724	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3783724C>T	ENST00000348335.2	-	9	860	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	CAMKK1_ENST00000381771.2_Missense_Mutation_p.V276I|CAMKK1_ENST00000158166.5_Missense_Mutation_p.V276I|CAMKK1_ENST00000381769.2_Missense_Mutation_p.V265I	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACTTCCATGACGGGCCTATGG	0.632																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(826-828)Gtc>Atc		calcium/calmodulin-dependent protein kinase kinase 1, alpha							54.0	41.0	45.0					17																	3783724		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3783724C>T	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.712G>A	17.37:g.3783724C>T	ENSP00000323118:p.Val238Ile					CAMKK1_ENST00000381769.2_Missense_Mutation_p.V265I|CAMKK1_ENST00000348335.2_Missense_Mutation_p.V238I|CAMKK1_ENST00000158166.5_Missense_Mutation_p.V276I	p.V276I			Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	973	-			238			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.826G>A	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596038	0.66332	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.73575	0.8;0.8;-0.76;-0.75	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.37466	1.105	0.80722	D	1	P;B	0.37015	0.578;0.402	B;B	0.39935	0.303;0.314	T	0.64740	-0.6336	10	0.22109	T	0.4	-19.0434	16.796	0.85602	0.0:1.0:0.0:0.0	.	276;238	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	I	265;238;276;276	ENSP00000371188:V265I;ENSP00000323118:V238I;ENSP00000371190:V276I;ENSP00000158166:V276I	ENSP00000158166:V276I	V	-	1	0	CAMKK1	3730473	1.000000	0.71417	0.963000	0.40424	0.960000	0.62799	5.400000	0.66320	2.569000	0.86673	0.591000	0.81541	GTC		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		4	5	0	0	0	1	0	4	5				
SCN3A	6328	broad.mit.edu	37	2	166020902	166020902	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166020902G>A	ENST00000360093.3	-	6	1093	c.602C>T	c.(601-603)gCg>gTg	p.A201V	SCN3A_ENST00000283254.7_Splice_Site_p.A201V|SCN3A_ENST00000409101.3_Splice_Site_p.A201V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	201					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTTACTCACGCCATCACAAT	0.358																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.e6+1		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						66.0	69.0	68.0					2																	166020902		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020902G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.602+1C>T	2.37:g.166020902G>A						SCN3A_ENST00000409101.3_Splice_Site_p.A201_splice|SCN3A_ENST00000283254.7_Splice_Site_p.A201_splice	p.A201_splice	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			6	1093	-			201					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Splice_Site	SNP	ENST00000360093.3	37	c.602_splice		.	.	.	.	.	.	.	.	.	.	G	35	5.513171	0.96402	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.99146	0.9705	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.991;0.99;0.98;0.991	D	0.99271	1.0893	9	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	201;201;201;201;201	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	201	ENSP00000353206:A201V;ENSP00000283254:A201V;ENSP00000386726:A201V;ENSP00000403348:A201V	.	A	-	2	0	SCN3A	165729148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.030000	0.88816	2.814000	0.96858	0.591000	0.81541	GCG;GCA;GCG;GCA		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Missense_Mutation	11	49	0	0	0	1	0	11	49				
C5AR2	27202	broad.mit.edu	37	19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47844630G>A	ENST00000595464.1	+	2	792	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S|C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	192					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGACTACGGCGGCTCCTCCAG	0.667																																						ENST00000595464.1																			0											c.(574-576)Ggc>Agc		complement component 5a receptor 2							54.0	62.0	59.0					19																	47844630		2203	4299	6502	SO:0001583	missense	27202							g.chr19:47844630G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.574G>A	19.37:g.47844630G>A	ENSP00000472620:p.Gly192Ser					C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S|C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S	p.G192S	NM_001271749.1	NP_001258678.1					2	792	+								B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.574G>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311262	0.40895	.	.	ENSG00000134830	ENST00000257267	T	0.31247	1.5	4.41	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.670368	0.14069	N	0.343536	T	0.22322	0.0538	N	0.25789	0.76	0.33923	D	0.64106	D	0.58970	0.984	P	0.44561	0.453	T	0.17592	-1.0364	10	0.20519	T	0.43	.	10.203	0.43097	0.0981:0.0:0.9019:0.0	.	192	Q9P296	C5ARL_HUMAN	S	192	ENSP00000257267:G192S	ENSP00000257267:G192S	G	+	1	0	GPR77	52536470	0.000000	0.05858	0.223000	0.23860	0.044000	0.14063	0.005000	0.13129	1.072000	0.40860	0.313000	0.20887	GGC		0.667	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		21	37	0	0	0	1	0	21	37				
CLK3	1198	broad.mit.edu	37	15	74914554	74914554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:74914554C>T	ENST00000395066.3	+	4	1368	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CLK3_ENST00000348245.3_Intron|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R155*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R155*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	303					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCTCCAAGAGCGATGTACAGC	0.567																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(907-909)Cga>Tga		CDC-like kinase 3							127.0	105.0	112.0					15																	74914554		2197	4296	6493	SO:0001587	stop_gained	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914554C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.907C>T	15.37:g.74914554C>T	ENSP00000378505:p.Arg303*					CLK3_ENST00000352989.5_Nonsense_Mutation_p.R155*|CLK3_ENST00000348245.3_Intron|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R155*	p.R303*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			4	1368	+			303					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Nonsense_Mutation	SNP	ENST00000395066.3	37	c.907C>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681748	0.88542	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	.	.	.	5.46	5.46	0.80206	.	0.000000	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3154	0.94211	0.0:1.0:0.0:0.0	.	.	.	.	X	155;155;303;155	.	ENSP00000344112:R155X	R	+	1	2	CLK3	72701607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.263000	0.51546	2.559000	0.86315	0.655000	0.94253	CGA		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			14	15	0	0	0	1	0	14	15				
GBA3	57733	broad.mit.edu	37	4	22737812	22737812	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:22737812A>G	ENST00000503442.1	+	0	358				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGGGACGACAGGTTTCATCA	0.413																																						ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							128.0	125.0	126.0					4																	22737812		1864	4110	5974			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737812A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737812A>G						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	270	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.413	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			48	43	0	0	0	1	0	48	43				
CIITA	4261	broad.mit.edu	37	16	11000826	11000826	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11000826C>T	ENST00000324288.8	+	11	1610	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	493	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGACCTGACCGCGTTCTGCT	0.642			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1477-1479)Cgc>Tgc		class II, major histocompatibility complex, transactivator							75.0	78.0	77.0					16																	11000826		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000826C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1477C>T	16.37:g.11000826C>T	ENSP00000316328:p.Arg493Cys					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R493C	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1610	+			493			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1477C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.730095	0.30684	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	D	0.83914	-1.78	5.27	5.27	0.74061	NACHT nucleoside triphosphatase (1);	0.112108	0.40222	N	0.001149	D	0.91253	0.7243	M	0.87682	2.9	0.22819	N	0.998691	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.985;0.993;0.999	D	0.85052	0.0929	10	0.87932	D	0	.	11.437	0.50074	0.2822:0.7178:0.0:0.0	.	493;493;445;493	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	C	493;445	ENSP00000316328:R493C	ENSP00000316328:R493C	R	+	1	0	CIITA	10908327	0.968000	0.33430	0.061000	0.19648	0.063000	0.16089	2.726000	0.47302	2.442000	0.82660	0.561000	0.74099	CGC		0.642	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		38	53	0	0	0	1	0	38	53				
ARMC5	79798	broad.mit.edu	37	16	31475817	31475817	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31475817C>T	ENST00000563544.1	+	5	2019	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	ARMC5_ENST00000457010.2_Silent_p.P491P|ARMC5_ENST00000538189.1_Silent_p.P523P|ARMC5_ENST00000408912.3_Silent_p.P586P|ARMC5_ENST00000412665.2_Silent_p.P135P|ARMC5_ENST00000268314.4_Silent_p.P491P			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	491										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGGCCAGCCCCGCCCCGACCC	0.731																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1471-1473)ccC>ccT		armadillo repeat containing 5							9.0	12.0	11.0					16																	31475817		1838	4005	5843	SO:0001819	synonymous_variant	79798						binding	g.chr16:31475817C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1473C>T	16.37:g.31475817C>T						ARMC5_ENST00000538189.1_Silent_p.P523P|ARMC5_ENST00000268314.4_Silent_p.P491P|ARMC5_ENST00000412665.2_Silent_p.P135P|ARMC5_ENST00000408912.3_Silent_p.P586P|ARMC5_ENST00000563544.1_Silent_p.P491P	p.P491P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			4	2174	+			491					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.1473C>T	CCDS45472.1																																																																																				0.731	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		6	10	0	0	0	1	0	6	10				
LINC00518	221718	broad.mit.edu	37	6	10430531	10430531	+	lincRNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:10430531C>T	ENST00000496285.1	-	0	504					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		TTCCCAATGTCTGAGTGGCTC	0.398																																						ENST00000496285.1																			0																				66.0	71.0	69.0					6																	10430531		2203	4300	6503			0							g.chr6:10430531C>T	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430531C>T								NR_027793.1						0	504	-									RNA	SNP	ENST00000496285.1	37																																																																																						0.398	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		25	54	0	0	0	1	0	25	54				
CCDC87	55231	broad.mit.edu	37	11	66358114	66358114	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66358114C>A	ENST00000333861.3	-	1	2440	c.2373G>T	c.(2371-2373)gaG>gaT	p.E791D	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	791					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAAGATTAACTCTATCTCCT	0.522																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2371-2373)gaG>gaT		coiled-coil domain containing 87							142.0	150.0	147.0					11																	66358114		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358114C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2373G>T	11.37:g.66358114C>A	ENSP00000328487:p.Glu791Asp						p.E791D	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2440	-			791					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2373G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288501	0.40494	.	.	ENSG00000182791	ENST00000333861	T	0.36340	1.26	5.6	3.74	0.42951	.	0.428025	0.19095	N	0.122842	T	0.47040	0.1424	M	0.68952	2.095	0.21355	N	0.999715	P	0.51240	0.943	P	0.54431	0.752	T	0.31447	-0.9943	10	0.45353	T	0.12	.	8.679	0.34196	0.0:0.8247:0.0:0.1753	.	791	Q9NVE4	CCD87_HUMAN	D	791	ENSP00000328487:E791D	ENSP00000328487:E791D	E	-	3	2	CCDC87	66114690	0.180000	0.23148	0.086000	0.20670	0.462000	0.32619	0.812000	0.27211	0.736000	0.32559	0.561000	0.74099	GAG		0.522	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		61	126	1	0	1.1362e-29	1	1.27275e-29	61	126				
BOLA1	51027	broad.mit.edu	37	1	149871901	149871901	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149871901C>T	ENST00000369153.2	+	3	953	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	BOLA1_ENST00000369150.1_Silent_p.L97L|BOLA1_ENST00000369152.5_Silent_p.L97L|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	97						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCCGAGGAGCTGGGAGGTCC	0.662																																						ENST00000369153.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(289-291)Ctg>Ttg		bolA family member 1							30.0	31.0	30.0					1																	149871901		2203	4299	6502	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871901C>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.289C>T	1.37:g.149871901C>T						BOLA1_ENST00000369150.1_Silent_p.L97L|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.L97L	p.L97L			Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	953	+	Breast(34;0.0124)|all_hematologic(923;0.127)		97					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.289C>T	CCDS939.1																																																																																				0.662	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		5	21	0	0	0	1	0	5	21				
CD4	920	broad.mit.edu	37	12	6909344	6909344	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6909344C>A	ENST00000011653.4	+	2	298	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.L14M	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	14					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	GCTTCTGGTGCTGCAACTGGG	0.592																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(40-42)Ctg>Atg		CD4 molecule							76.0	69.0	71.0					12																	6909344		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6909344C>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.40C>A	12.37:g.6909344C>A	ENSP00000011653:p.Leu14Met					CD4_ENST00000541982.1_Missense_Mutation_p.L14M|CD4_ENST00000538827.1_Intron	p.L14M	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			2	298	+		Myeloproliferative disorder(1001;0.0122)	14					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.40C>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484000	0.63962	.	.	ENSG00000010610	ENST00000011653;ENST00000541982;ENST00000539492	T;T	0.61742	0.81;0.08	4.0	4.0	0.46444	.	0.000000	0.45126	D	0.000400	T	0.72463	0.3463	M	0.71206	2.165	0.24638	N	0.993587	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.63941	-0.6523	10	0.72032	D	0.01	-0.4456	11.7954	0.52098	0.0:1.0:0.0:0.0	.	14;14	F5H480;P01730	.;CD4_HUMAN	M	14	ENSP00000011653:L14M;ENSP00000445167:L14M	ENSP00000011653:L14M	L	+	1	2	CD4	6779605	1.000000	0.71417	0.964000	0.40570	0.898000	0.52572	3.242000	0.51384	2.222000	0.72286	0.462000	0.41574	CTG		0.592	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		10	33	1	0	2.17888e-05	1	2.24846e-05	10	33				
SPTBN1	6711	broad.mit.edu	37	2	54848567	54848567	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54848567C>T	ENST00000356805.4	+	8	1075	c.794C>T	c.(793-795)tCc>tTc	p.S265F	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S252F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	265	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGAGAAGTCCATAATCACT	0.458																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(754-756)tCc>tTc		spectrin, beta, non-erythrocytic 1							169.0	148.0	155.0					2																	54848567		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54848567C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.794C>T	2.37:g.54848567C>T	ENSP00000349259:p.Ser265Phe					SPTBN1_ENST00000356805.4_Missense_Mutation_p.S265F	p.S252F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		7	1140	+			265			Actin-binding.|CH 2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.755C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309323	0.95629	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.96265	-0.14;-0.14;-3.96	5.83	5.83	0.93111	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98591	1.0654	10	0.66056	D	0.02	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	252;265	Q01082-3;Q01082	.;SPTB2_HUMAN	F	265;265;252	ENSP00000349259:S265F;ENSP00000374630:S265F;ENSP00000334156:S252F	ENSP00000334156:S252F	S	+	2	0	SPTBN1	54702071	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.770000	0.85390	2.769000	0.95229	0.655000	0.94253	TCC		0.458	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			21	35	0	0	0	1	0	21	35				
TMEM110	375346	broad.mit.edu	37	3	52883814	52883814	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52883814C>T	ENST00000355083.5	-	4	566	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	141						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		TTACCATATTCGCCGAAGCGC	0.627																																						ENST00000355083.5																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(421-423)Gaa>Aaa		transmembrane protein 110							52.0	46.0	48.0					3																	52883814		2203	4300	6503	SO:0001583	missense	375346							g.chr3:52883814C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.421G>A	3.37:g.52883814C>T	ENSP00000347195:p.Glu141Lys					TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K	p.E141K	NM_198563.2	NP_940965.1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	4	566	-									Missense_Mutation	SNP	ENST00000355083.5	37	c.421G>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326542	0.95708	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	U	0.000000	D	0.83179	0.5198	M	0.85299	2.745	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.79784	0.883;0.993	D	0.84752	0.0757	9	0.45353	T	0.12	-9.8555	17.6363	0.88123	0.0:1.0:0.0:0.0	.	141;141	Q86TL2;A8MSY1	TM110_HUMAN;.	K	141	.	ENSP00000347195:E141K	E	-	1	0	TMEM110-MUSTN1;TMEM110	52858854	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.583000	0.82559	2.461000	0.83175	0.561000	0.74099	GAA		0.627	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		5	9	0	0	0	1	0	5	9				
STAB2	55576	broad.mit.edu	37	12	104069709	104069709	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104069709T>C	ENST00000388887.2	+	24	2760	c.2556T>C	c.(2554-2556)tgT>tgC	p.C852C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTGCAGTTGTATTTGCAAAG	0.507																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2554-2556)tgT>tgC		stabilin 2							127.0	110.0	116.0					12																	104069709		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104069709T>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2556T>C	12.37:g.104069709T>C							p.C852C	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			24	2760	+			852			EGF-like 7.			Silent	SNP	ENST00000388887.2	37	c.2556T>C	CCDS31888.1																																																																																				0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	31	0	0	0	1	0	22	31				
EPS8L3	79574	broad.mit.edu	37	1	110299664	110299664	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110299664A>G	ENST00000361965.4	-	12	1199	c.1093T>C	c.(1093-1095)Ttg>Ctg	p.L365L	EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000369805.3_Silent_p.L366L|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.L365L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	365						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCCAACCCCATCCAA	0.582																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1096-1098)Ttg>Ctg		EPS8-like 3							141.0	140.0	141.0					1																	110299664		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110299664A>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1093T>C	1.37:g.110299664A>G						EPS8L3_ENST00000361852.4_Silent_p.L365L|EPS8L3_ENST00000361965.4_Silent_p.L365L|RP4-735C1.4_ENST00000431955.1_RNA	p.L366L	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	12	1325	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	365					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1096T>C	CCDS814.1																																																																																				0.582	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		31	67	0	0	0	1	0	31	67				
USP28	57646	broad.mit.edu	37	11	113675464	113675464	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113675464G>A	ENST00000003302.4	-	21	2657	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	USP28_ENST00000260188.5_Silent_p.S831S|USP28_ENST00000544967.1_Silent_p.S539S|USP28_ENST00000545540.1_Silent_p.S706S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	863					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTCATAATGCTGATTGATC	0.438																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2587-2589)agC>agT		ubiquitin specific peptidase 28							144.0	131.0	136.0					11																	113675464		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675464G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2589C>T	11.37:g.113675464G>A						USP28_ENST00000260188.5_Silent_p.S831S|USP28_ENST00000545540.1_Silent_p.S706S|USP28_ENST00000544967.1_Silent_p.S539S	p.S863S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	21	2657	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	863					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.2589C>T	CCDS31680.1																																																																																				0.438	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			25	52	0	0	0	1	0	25	52				
PIGC	5279	broad.mit.edu	37	1	172411474	172411474	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:172411474A>G	ENST00000367728.1	-	1	1752	c.289T>C	c.(289-291)Tat>Cat	p.Y97H	PIGC_ENST00000258324.1_Missense_Mutation_p.Y97H|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Y97H|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	97					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AACAAAACATACCCAATCAGT	0.493																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(289-291)Tat>Cat		phosphatidylinositol glycan anchor biosynthesis, class C							54.0	58.0	57.0					1																	172411474		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411474A>G	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.289T>C	1.37:g.172411474A>G	ENSP00000356702:p.Tyr97His					PIGC_ENST00000258324.1_Missense_Mutation_p.Y97H|PIGC_ENST00000344529.4_Missense_Mutation_p.Y97H|PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron	p.Y97H			Q92535	PIGC_HUMAN			1	1752	-			97					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.289T>C	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506094	0.85282	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.46063	0.88;0.88;0.88	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62224	-0.6899	10	0.46703	T	0.11	-0.5649	13.8968	0.63778	1.0:0.0:0.0:0.0	.	97	Q92535	PIGC_HUMAN	H	97	ENSP00000356701:Y97H;ENSP00000356702:Y97H;ENSP00000258324:Y97H	ENSP00000258324:Y97H	Y	-	1	0	PIGC	170678097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.478000	0.73596	1.970000	0.57323	0.533000	0.62120	TAT		0.493	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		11	24	0	0	0	1	0	11	24				
ARCN1	372	broad.mit.edu	37	11	118461128	118461128	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118461128G>A	ENST00000264028.4	+	6	986	c.891G>A	c.(889-891)ttG>ttA	p.L297L	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Silent_p.L338L|ARCN1_ENST00000392859.3_Silent_p.L209L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	297	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATATGGAGTTGCATGGCATGA	0.388																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1012-1014)ttG>ttA		archain 1							156.0	133.0	141.0					11																	118461128		2200	4295	6495	SO:0001819	synonymous_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118461128G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.891G>A	11.37:g.118461128G>A						ARCN1_ENST00000392859.3_Silent_p.L209L|ARCN1_ENST00000264028.4_Silent_p.L297L|ARCN1_ENST00000534182.2_Intron	p.L338L			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	7	1179	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	297			MHD.		B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	c.1014G>A	CCDS8400.1																																																																																				0.388	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			4	79	0	0	0	1	0	4	79				
BCS1L	617	broad.mit.edu	37	2	219526232	219526232	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219526232A>G	ENST00000431802.1	+	3	1123	c.424A>G	c.(424-426)Act>Gct	p.T142A	BCS1L_ENST00000412366.1_Missense_Mutation_p.T142A|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392109.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392111.2_Missense_Mutation_p.T142A|BCS1L_ENST00000359273.3_Missense_Mutation_p.T142A|BCS1L_ENST00000392110.2_Missense_Mutation_p.T142A			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	142					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCTGGGCACTGACCGAAA	0.532																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(424-426)Act>Gct		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							75.0	81.0	79.0					2																	219526232		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219526232A>G	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.424A>G	2.37:g.219526232A>G	ENSP00000413908:p.Thr142Ala					BCS1L_ENST00000439945.1_Missense_Mutation_p.T142A|BCS1L_ENST00000412366.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392109.1_Missense_Mutation_p.T142A|BCS1L_ENST00000392110.2_Missense_Mutation_p.T142A|BCS1L_ENST00000392111.2_Missense_Mutation_p.T142A|BCS1L_ENST00000359273.3_Missense_Mutation_p.T142A	p.T142A			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1123	+		Renal(207;0.0474)	142					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.424A>G	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559989	0.45590	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.33	5.33	0.75918	BCS1, N-terminal (1);	0.048355	0.85682	D	0.000000	D	0.90559	0.7041	N	0.21194	0.64	0.44061	D	0.996809	B	0.17465	0.022	B	0.22152	0.038	D	0.86757	0.1964	10	0.11182	T	0.66	-13.4439	15.469	0.75426	1.0:0.0:0.0:0.0	.	142	Q9Y276	BCS1_HUMAN	A	142;142;22;142;142;142;142;142;142;142	ENSP00000398957:T142A;ENSP00000395440:T142A;ENSP00000412729:T22A;ENSP00000352219:T142A;ENSP00000375957:T142A;ENSP00000375958:T142A;ENSP00000375959:T142A;ENSP00000406494:T142A;ENSP00000404999:T142A;ENSP00000413908:T142A	ENSP00000352219:T142A	T	+	1	0	BCS1L	219234476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.726000	0.68515	2.239000	0.73571	0.528000	0.53228	ACT		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		23	21	0	0	0	1	0	23	21				
KLB	152831	broad.mit.edu	37	4	39436200	39436200	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39436200C>T	ENST00000257408.4	+	2	1293	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	399	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TTAAGAGAAGCGCTGAACTGG	0.428																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(1195-1197)gCg>gTg		klotho beta							107.0	107.0	107.0					4																	39436200		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436200C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1196C>T	4.37:g.39436200C>T	ENSP00000257408:p.Ala399Val						p.A399V	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			2	1293	+			399			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1196C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	3.164	-0.171426	0.06421	.	.	ENSG00000134962	ENST00000257408	T	0.29397	1.57	6.06	1.05	0.20165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.558047	0.19653	N	0.109161	T	0.11024	0.0269	N	0.01446	-0.86	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27262	-1.0079	10	0.32370	T	0.25	-11.7376	11.2598	0.49076	0.0:0.1932:0.0:0.8068	.	399;399	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	399	ENSP00000257408:A399V	ENSP00000257408:A399V	A	+	2	0	KLB	39112595	0.997000	0.39634	0.932000	0.37286	0.063000	0.16089	1.891000	0.39738	0.173000	0.19788	-1.099000	0.02127	GCG		0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		39	65	0	0	0	1	0	39	65				
MERTK	10461	broad.mit.edu	37	2	112767612	112767612	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:112767612T>C	ENST00000295408.4	+	15	2305	c.2048T>C	c.(2047-2049)tTa>tCa	p.L683S	MERTK_ENST00000421804.2_Missense_Mutation_p.L683S|MERTK_ENST00000409780.1_Missense_Mutation_p.L507S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATACTTACTTACTTTATTCC	0.428																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2047-2049)tTa>tCa		c-mer proto-oncogene tyrosine kinase							174.0	172.0	173.0					2																	112767612		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112767612T>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2048T>C	2.37:g.112767612T>C	ENSP00000295408:p.Leu683Ser					MERTK_ENST00000421804.2_Missense_Mutation_p.L683S|MERTK_ENST00000409780.1_Missense_Mutation_p.L507S	p.L683S			Q12866	MERTK_HUMAN			15	2305	+			683			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2048T>C	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295115	0.81025	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	D;D;D	0.91740	-2.9;-2.9;-2.9	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26623	U	0.023344	D	0.96929	0.8997	M	0.91510	3.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97664	1.0162	10	0.87932	D	0	-13.6449	16.25	0.82478	0.0:0.0:0.0:1.0	.	683	Q12866	MERTK_HUMAN	S	683;683;507	ENSP00000295408:L683S;ENSP00000389152:L683S;ENSP00000387277:L507S	ENSP00000295408:L683S	L	+	2	0	MERTK	112484083	0.997000	0.39634	0.006000	0.13384	0.828000	0.46876	7.316000	0.79007	2.317000	0.78254	0.460000	0.39030	TTA		0.428	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	89	0	0	0	1	0	4	89				
ABCC8	6833	broad.mit.edu	37	11	17450217	17450217	+	Splice_Site	SNP	G	G	A	rs202207978		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17450217G>A	ENST00000389817.3	-	13	1886	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Splice_Site_p.S606S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	606					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCTTTTGCACGCTGCTCGGGA	0.637																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e13-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	G		1,4399	2.1+/-5.4	0,1,2199	69.0	61.0	64.0		1818	-5.4	0.9	11		64	0,8586		0,0,4293	yes	coding-synonymous-near-splice	ABCC8	NM_000352.3		0,1,6492	AA,AG,GG		0.0,0.0227,0.0077		606/1582	17450217	1,12985	2200	4293	6493	SO:0001630	splice_region_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17450217G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1818-1C>T	11.37:g.17450217G>A						ABCC8_ENST00000389817.3_Splice_Site_p.S606_splice	p.S606_splice	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	13	1943	-			606					A6NMX8|E3UYX6|O75948|Q16583	Splice_Site	SNP	ENST00000389817.3	37	c.1817_splice	CCDS31437.1																																																																																				0.637	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	Silent	24	12	0	0	0	1	0	24	12				
ADSSL1	122622	broad.mit.edu	37	14	105208270	105208270	+	Silent	SNP	C	C	T	rs148388939	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105208270C>T	ENST00000330877.2	+	9	964	c.879C>T	c.(877-879)gaC>gaT	p.D293D	ADSSL1_ENST00000332972.5_Silent_p.D336D	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		ACATAGGTGACGTGTATGGCG	0.632																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1006-1008)gaC>gaT		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)	C	,	0,4406		0,0,2203	162.0	142.0	149.0		879,1008	-10.3	0.0	14	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADSSL1	NM_152328.3,NM_199165.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	293/458,336/501	105208270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208270C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.879C>T	14.37:g.105208270C>T						ADSSL1_ENST00000330877.2_Silent_p.D293D	p.D336D	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	9	1167	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	293			Substrate binding (By similarity).			Silent	SNP	ENST00000330877.2	37	c.1008C>T	CCDS9990.1																																																																																				0.632	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			11	74	0	0	0	1	0	11	74				
NACC1	112939	broad.mit.edu	37	19	13246945	13246945	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13246945C>T	ENST00000292431.4	+	2	1050	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	308					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCATGTACAGCATGATGAACG	0.617																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(922-924)agC>agT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							142.0	124.0	130.0					19																	13246945		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246945C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.924C>T	19.37:g.13246945C>T							p.S308S	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	1050	+			308						Silent	SNP	ENST00000292431.4	37	c.924C>T	CCDS12294.1																																																																																				0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		9	14	0	0	0	1	0	9	14				
CCR7	1236	broad.mit.edu	37	17	38711730	38711730	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38711730G>A	ENST00000246657.2	-	3	463	c.401C>T	c.(400-402)gCc>gTc	p.A134V	CCR7_ENST00000579344.1_Missense_Mutation_p.A128V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	134					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTTGTAGATGGCAAAGATGAG	0.567																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(400-402)gCc>gTc		chemokine (C-C motif) receptor 7							51.0	48.0	49.0					17																	38711730		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711730G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.401C>T	17.37:g.38711730G>A	ENSP00000246657:p.Ala134Val					CCR7_ENST00000579344.1_Missense_Mutation_p.A128V	p.A134V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	463	-		Breast(137;0.000496)	134						Missense_Mutation	SNP	ENST00000246657.2	37	c.401C>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573871	0.45902	.	.	ENSG00000126353	ENST00000246657	T	0.37584	1.19	4.89	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.322084	0.32372	N	0.006185	T	0.27419	0.0673	N	0.21508	0.67	0.23506	N	0.997532	B	0.17038	0.02	B	0.32211	0.142	T	0.38178	-0.9673	10	0.62326	D	0.03	.	11.4242	0.50001	0.1294:0.6129:0.2578:0.0	.	134	P32248	CCR7_HUMAN	V	134	ENSP00000246657:A134V	ENSP00000246657:A134V	A	-	2	0	CCR7	35965256	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	2.617000	0.46385	0.640000	0.30582	-0.270000	0.10280	GCC		0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			7	18	0	0	0	1	0	7	18				
DCDC2	51473	broad.mit.edu	37	6	24178685	24178685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:24178685C>T	ENST00000378454.3	-	9	1500	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DCDC2_ENST00000378450.3_Missense_Mutation_p.R153H	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	400					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.R400H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACGAGCAGGGCGTGCCTGCTG	0.517																																						ENST00000378454.3																			1	Substitution - Missense(1)	p.R400H(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1198-1200)cGc>cAc		doublecortin domain containing 2							194.0	168.0	176.0					6																	24178685		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178685C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1199G>A	6.37:g.24178685C>T	ENSP00000367715:p.Arg400His					DCDC2_ENST00000378450.3_Missense_Mutation_p.R153H	p.R400H	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			9	1500	-		Ovarian(999;0.101)	400					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1199G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	c	7.518	0.656137	0.14580	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.47869	4.08;0.83	4.83	-1.85	0.07784	.	1.136810	0.06522	N	0.739798	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.021;0.036	B;B	0.08055	0.001;0.003	T	0.21348	-1.0248	10	0.45353	T	0.12	-0.0699	0.9028	0.01277	0.2735:0.2477:0.2995:0.1792	.	400;153	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	H	400;153	ENSP00000367715:R400H;ENSP00000367711:R153H	ENSP00000367711:R153H	R	-	2	0	DCDC2	24286664	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.643000	0.05421	-0.185000	0.10550	-0.218000	0.12543	CGC		0.517	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		16	70	0	0	0	1	0	16	70				
CAND2	23066	broad.mit.edu	37	3	12859357	12859357	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:12859357C>T	ENST00000456430.2	+	10	2967	c.2926C>T	c.(2926-2928)Cgg>Tgg	p.R976W	CAND2_ENST00000295989.5_Missense_Mutation_p.R883W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	976					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCCGCTTGCGGAAGCAGCT	0.657																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2926-2928)Cgg>Tgg		cullin-associated and neddylation-dissociated 2 (putative)							56.0	63.0	60.0					3																	12859357		2029	4175	6204	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12859357C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2926C>T	3.37:g.12859357C>T	ENSP00000387641:p.Arg976Trp					CAND2_ENST00000295989.5_Missense_Mutation_p.R883W	p.R976W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2967	+			976					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2926C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449964	0.43531	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.18502	2.21;2.21	4.37	2.36	0.29203	Armadillo-like helical (1);Armadillo-type fold (1);	0.439705	0.20829	N	0.084923	T	0.21145	0.0509	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.53224	0.462;0.721	T	0.02301	-1.1180	10	0.52906	T	0.07	-6.8431	4.7647	0.13127	0.3877:0.5088:0.0:0.1035	.	976;883	O75155;O75155-2	CAND2_HUMAN;.	W	883;976	ENSP00000295989:R883W;ENSP00000387641:R976W	ENSP00000295989:R883W	R	+	1	2	CAND2	12834357	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.484000	0.53201	0.937000	0.37394	0.561000	0.74099	CGG		0.657	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		19	23	0	0	0	1	0	19	23				
TDRD7	23424	broad.mit.edu	37	9	100235780	100235780	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:100235780G>A	ENST00000355295.4	+	11	2246	c.1951G>A	c.(1951-1953)Gcc>Acc	p.A651T	TDRD7_ENST00000422139.2_Missense_Mutation_p.A577T|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	651					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATAGGTTGACGCCATGTACAC	0.438																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1951-1953)Gcc>Acc		tudor domain containing 7							181.0	166.0	171.0					9																	100235780		2203	4299	6502	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100235780G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1951G>A	9.37:g.100235780G>A	ENSP00000347444:p.Ala651Thr					TDRD7_ENST00000422139.2_Missense_Mutation_p.A577T|TDRD7_ENST00000540902.1_5'UTR	p.A651T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			11	2246	+		Acute lymphoblastic leukemia(62;0.158)	651					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1951G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559127	0.45590	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.10005	2.92;2.92	4.23	4.23	0.50019	Maternal tudor protein (1);	0.200950	0.53938	D	0.000059	T	0.03915	0.0110	N	0.12182	0.205	0.80722	D	1	P	0.48834	0.916	B	0.35312	0.2	T	0.46005	-0.9222	10	0.17369	T	0.5	-17.031	5.4955	0.16799	0.099:0.0:0.701:0.2	.	651	Q8NHU6	TDRD7_HUMAN	T	651;577	ENSP00000347444:A651T;ENSP00000413608:A577T	ENSP00000347444:A651T	A	+	1	0	TDRD7	99275601	0.980000	0.34600	0.998000	0.56505	0.752000	0.42762	1.510000	0.35790	2.653000	0.90120	0.585000	0.79938	GCC		0.438	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		27	63	0	0	0	1	0	27	63				
ABCA7	10347	broad.mit.edu	37	19	1046292	1046292	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1046292C>T	ENST00000263094.6	+	13	1740	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.F365F|ABCA7_ENST00000433129.1_Silent_p.F503F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	503					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCGGCTTCGTGTACCTGC	0.697																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1507-1509)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 7							123.0	130.0	128.0					19																	1046292		2203	4298	6501	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046292C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1509C>T	19.37:g.1046292C>T						ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.F365F|ABCA7_ENST00000433129.1_Silent_p.F503F	p.F503F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1740	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	503					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1509C>T	CCDS12055.1																																																																																				0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		84	128	0	0	0	1	0	84	128				
SLC38A2	54407	broad.mit.edu	37	12	46756336	46756336	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46756336G>A	ENST00000256689.5	-	14	1709	c.1265C>T	c.(1264-1266)gCa>gTa	p.A422V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.A260V|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	422					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTGGTAAATGCCAAGATAGA	0.363																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1264-1266)gCa>gTa		solute carrier family 38, member 2							98.0	93.0	95.0					12																	46756336		2202	4300	6502	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46756336G>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1265C>T	12.37:g.46756336G>A	ENSP00000256689:p.Ala422Val					SLC38A2_ENST00000551374.1_Missense_Mutation_p.A260V	p.A422V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	14	1709	-	Lung SC(27;0.192)|Renal(347;0.236)		422					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.1265C>T	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	G	4.009	-0.001039	0.07819	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.01887	4.58;4.58	5.79	-2.87	0.05700	.	0.701572	0.14693	N	0.304041	T	0.01353	0.0044	N	0.25890	0.77	0.09310	N	0.999997	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.003;0.007;0.006	T	0.48833	-0.9000	10	0.02654	T	1	0.6631	7.9811	0.30183	0.2942:0.2822:0.4236:0.0	.	260;322;422	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	V	422;260	ENSP00000256689:A422V;ENSP00000450406:A260V	ENSP00000256689:A422V	A	-	2	0	SLC38A2	45042603	0.004000	0.15560	0.287000	0.24848	0.970000	0.65996	0.072000	0.14617	-0.375000	0.07955	0.650000	0.86243	GCA		0.363	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			23	41	0	0	0	1	0	23	41				
GABRB1	2560	broad.mit.edu	37	4	47428008	47428008	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:47428008C>T	ENST00000295454.3	+	9	1690	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	GABRB1_ENST00000538619.1_Silent_p.V396V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	466					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTTAATGTCGTCTATTGGC	0.418																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1396-1398)gtC>gtT		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						97.0	94.0	95.0					4																	47428008		2202	4298	6500	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47428008C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1398C>T	4.37:g.47428008C>T						GABRB1_ENST00000538619.1_Silent_p.V396V	p.V466V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1690	+			466					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1398C>T	CCDS3474.1																																																																																				0.418	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			46	76	0	0	0	1	0	46	76				
ARVCF	421	broad.mit.edu	37	22	19969540	19969540	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19969540C>T	ENST00000263207.3	-	4	576	c.285G>A	c.(283-285)acG>acA	p.T95T	ARVCF_ENST00000401994.1_Silent_p.T32T|ARVCF_ENST00000344269.3_Silent_p.T32T|ARVCF_ENST00000406522.1_Silent_p.T32T|ARVCF_ENST00000406259.1_Silent_p.T95T|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	95					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTCCTCCACCGTCACGGTCT	0.647																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(283-285)acG>acA		armadillo repeat gene deleted in velocardiofacial syndrome							113.0	91.0	98.0					22																	19969540		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969540C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.285G>A	22.37:g.19969540C>T						ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Silent_p.T32T|ARVCF_ENST00000406522.1_Silent_p.T32T|ARVCF_ENST00000406259.1_Silent_p.T95T|ARVCF_ENST00000401994.1_Silent_p.T32T	p.T95T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			4	576	-	Colorectal(54;0.0993)		95					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.285G>A	CCDS13771.1																																																																																				0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		20	23	0	0	0	1	0	20	23				
AARS2	57505	broad.mit.edu	37	6	44279880	44279880	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44279880C>A	ENST00000244571.4	-	2	366	c.364G>T	c.(364-366)Ggt>Tgt	p.G122C	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTCTCGACCCACATCTTCC	0.522																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(364-366)Ggt>Tgt		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						192.0	153.0	166.0					6																	44279880		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279880C>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.364G>T	6.37:g.44279880C>A	ENSP00000244571:p.Gly122Cys						p.G122C	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	366	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		122						Missense_Mutation	SNP	ENST00000244571.4	37	c.364G>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236857	0.79800	.	.	ENSG00000124608	ENST00000244571	D	0.92299	-3.01	4.9	4.04	0.47022	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97892	1.0298	10	0.87932	D	0	-21.5236	13.2793	0.60205	0.0:0.9237:0.0:0.0763	.	122	Q5JTZ9	SYAM_HUMAN	C	122	ENSP00000244571:G122C	ENSP00000244571:G122C	G	-	1	0	AARS2	44387858	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.651000	0.83577	1.290000	0.44636	0.436000	0.28706	GGT		0.522	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		40	55	1	0	2.24893e-16	1	2.47033e-16	40	55				
SEP15	9403	broad.mit.edu	37	1	87369093	87369093	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:87369093G>A	ENST00000331835.5	-	2	376	c.114C>T	c.(112-114)tgC>tgT	p.C38C	SEP15_ENST00000370554.1_Silent_p.C38C|SEP15_ENST00000401030.3_Silent_p.C38C|SEP15_ENST00000469566.1_5'UTR	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		38					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		CTAACTCTCTGCATGCCTCCG	0.418																																						ENST00000331835.5																			0											c.(112-114)tgC>tgT									45.0	43.0	44.0					1																	87369093		1881	4120	6001	SO:0001819	synonymous_variant	0							g.chr1:87369093G>A																												ENST00000331835.5:c.114C>T	1.37:g.87369093G>A						RP4-604K5.1_ENST00000401030.3_Silent_p.C38C|RP4-604K5.1_ENST00000370554.1_Silent_p.C38C|RP4-604K5.1_ENST00000469566.1_5'UTR	p.C38C	NM_004261.3	NP_004252.2					2	376	-								Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Silent	SNP	ENST00000331835.5	37	c.114C>T																																																																																					0.418	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			6	18	0	0	0	1	0	6	18				
DOCK2	1794	broad.mit.edu	37	5	169122822	169122822	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169122822G>T	ENST00000256935.8	+	10	939	c.859G>T	c.(859-861)Gac>Tac	p.D287Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	287					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D287Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAACAAAGACCTCAACAG	0.418																																						ENST00000256935.8																			1	Substitution - Missense(1)	p.D287Y(1)	lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(859-861)Gac>Tac		dedicator of cytokinesis 2							93.0	99.0	97.0					5																	169122822		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169122822G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.859G>T	5.37:g.169122822G>T	ENSP00000256935:p.Asp287Tyr						p.D287Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	939	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	287					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.859G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815168	0.90790	.	.	ENSG00000134516	ENST00000256935	T	0.18338	2.22	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62348	-0.6873	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	287	Q92608	DOCK2_HUMAN	Y	287	ENSP00000256935:D287Y	ENSP00000256935:D287Y	D	+	1	0	DOCK2	169055400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.835000	0.97688	0.650000	0.86243	GAC		0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		37	63	1	0	2.87052e-16	1	3.15041e-16	37	63				
ZIM2	23619	broad.mit.edu	37	19	57286765	57286765	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:57286765G>T	ENST00000391708.3	-	12	1417	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	ZIM2_ENST00000599935.1_Missense_Mutation_p.S292Y|ZIM2_ENST00000221722.5_Missense_Mutation_p.S292Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACTAAGATTAGAGCTTCTCTC	0.463																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(874-876)tCt>tAt		zinc finger, imprinted 2							126.0	121.0	122.0					19																	57286765		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286765G>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.875C>A	19.37:g.57286765G>T	ENSP00000375589:p.Ser292Tyr					ZIM2_ENST00000601070.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S292Y|ZIM2_ENST00000599935.1_Missense_Mutation_p.S292Y|ZIM2_ENST00000593711.1_Missense_Mutation_p.S292Y|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA	p.S292Y	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1417	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.875C>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041604	0.35989	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05139	3.49;3.49	3.94	0.182	0.15077	.	.	.	.	.	T	0.04318	0.0119	N	0.24115	0.695	.	.	.	P	0.46277	0.875	B	0.41571	0.36	T	0.34875	-0.9811	8	0.59425	D	0.04	.	4.0301	0.09705	0.3366:0.1969:0.4665:0.0	.	292	Q9NZV7	ZIM2_HUMAN	Y	292	ENSP00000375589:S292Y;ENSP00000221722:S292Y	ENSP00000221722:S292Y	S	-	2	0	ZIM2	61978577	.	.	0.000000	0.03702	0.007000	0.05969	.	.	0.150000	0.19136	0.655000	0.94253	TCT		0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			29	62	1	0	1.06801e-11	1	1.15033e-11	29	62				
NXPE1	120400	broad.mit.edu	37	11	114401164	114401164	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114401164G>A	ENST00000424269.1	-	2	565	c.566C>T	c.(565-567)gCg>gTg	p.A189V	NXPE1_ENST00000251921.2_Missense_Mutation_p.A47V|NXPE1_ENST00000536312.1_Missense_Mutation_p.A189V|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	189						extracellular region (GO:0005576)											GAGAGCCGACGCCCCTTCACT	0.512																																						ENST00000536312.1																			0											c.(565-567)gCg>gTg		neurexophilin and PC-esterase domain family, member 1							72.0	76.0	75.0					11																	114401164		2201	4296	6497	SO:0001583	missense	120400							g.chr11:114401164G>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.566C>T	11.37:g.114401164G>A	ENSP00000411690:p.Ala189Val					NXPE1_ENST00000424269.1_Missense_Mutation_p.A189V|NXPE1_ENST00000251921.2_Missense_Mutation_p.A47V	p.A189V							6	1458	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.566C>T		.	.	.	.	.	.	.	.	.	.	G	0.014	-1.591102	0.00864	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.25085	3.38;3.64;1.82	4.52	-4.42	0.03579	.	0.940554	0.08764	N	0.897312	T	0.04137	0.0115	N	0.00102	-2.13	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42799	-0.9430	10	0.02654	T	1	.	11.447	0.50129	0.5656:0.0:0.4344:0.0	.	189	F5H6W7	.	V	47;189;189	ENSP00000251921:A47V;ENSP00000411690:A189V;ENSP00000442984:A189V	ENSP00000251921:A47V	A	-	2	0	FAM55A	113906374	0.003000	0.15002	0.002000	0.10522	0.357000	0.29423	0.961000	0.29267	-1.090000	0.03069	-0.880000	0.02959	GCG		0.512	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		19	24	0	0	0	1	0	19	24				
KIFC3	3801	broad.mit.edu	37	16	57794985	57794985	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:57794985G>A	ENST00000379655.4	-	15	2228	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	KIFC3_ENST00000543930.1_Silent_p.G515G|KIFC3_ENST00000541240.1_Silent_p.G679G|KIFC3_ENST00000445690.2_Silent_p.G657G|KIFC3_ENST00000562903.1_Silent_p.G518G|KIFC3_ENST00000465878.2_Silent_p.G518G|KIFC3_ENST00000421376.2_Silent_p.G518G|KIFC3_ENST00000539578.1_Silent_p.G599G|KIFC3_ENST00000540079.2_Silent_p.G555G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	657	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCAGTCCACGCCTCGCACCG	0.642																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1969-1971)ggC>ggT		kinesin family member C3							78.0	69.0	72.0					16																	57794985		2198	4299	6497	SO:0001819	synonymous_variant	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57794985G>A	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1971C>T	16.37:g.57794985G>A						KIFC3_ENST00000541240.1_Silent_p.G679G|KIFC3_ENST00000465878.2_Silent_p.G518G|KIFC3_ENST00000543930.1_Silent_p.G515G|KIFC3_ENST00000540079.2_Silent_p.G555G|KIFC3_ENST00000539578.1_Silent_p.G599G|KIFC3_ENST00000445690.2_Silent_p.G657G|KIFC3_ENST00000421376.2_Silent_p.G518G|KIFC3_ENST00000562903.1_Silent_p.G518G	p.G657G	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			15	2228	-		all_neural(199;0.224)	657			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1971C>T	CCDS10789.2																																																																																				0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		9	11	0	0	0	1	0	9	11				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657535	72657535	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72657535C>T	ENST00000425256.1	-	0	2376									GTF2I repeat domain containing 2 pseudogene 1																		cgttgcattgcaggtcgataa	0.502																																						ENST00000425256.1																			0																																																			0							g.chr7:72657535C>T	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657535C>T								NR_002164.1						0	2376	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.502	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		106	163	0	0	0	1	0	106	163				
HTT	3064	broad.mit.edu	37	4	3210609	3210609	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3210609G>A	ENST00000355072.5	+	46	6407	c.6262G>A	c.(6262-6264)Gtg>Atg	p.V2088M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2088					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.V2088M(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATGGGCACGTGTCACTGGA	0.577																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.V2088M(1)	kidney(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6262-6264)Gtg>Atg		huntingtin							59.0	60.0	60.0					4																	3210609		2102	4217	6319	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3210609G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6262G>A	4.37:g.3210609G>A	ENSP00000347184:p.Val2088Met						p.V2088M	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	46	6407	+		all_epithelial(65;0.18)	2088					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6262G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553088	0.27739	.	.	ENSG00000197386	ENST00000355072	T	0.05199	3.48	6.07	-4.14	0.03892	.	0.489229	0.22887	N	0.054436	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.34825	-0.9813	10	0.36615	T	0.2	.	3.4879	0.07626	0.1168:0.3657:0.3346:0.1829	.	2088	P42858	HD_HUMAN	M	2088	ENSP00000347184:V2088M	ENSP00000347184:V2088M	V	+	1	0	HTT	3180407	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-0.099000	0.11007	-0.441000	0.07201	0.655000	0.94253	GTG		0.577	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	25	0	0	0	1	0	5	25				
TRIM48	79097	broad.mit.edu	37	11	55033097	55033097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55033097C>T	ENST00000417545.2	+	3	567	c.481C>T	c.(481-483)Cag>Tag	p.Q161*		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	145						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAAGAAAATGCAGTCTTTATG	0.423																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(481-483)Cag>Tag		tripartite motif containing 48							30.0	33.0	32.0					11																	55033097		2174	4243	6417	SO:0001587	stop_gained	79097					intracellular	zinc ion binding	g.chr11:55033097C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.481C>T	11.37:g.55033097C>T	ENSP00000402414:p.Gln161*						p.Q161*	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			3	567	+			145					Q9BUW4	Nonsense_Mutation	SNP	ENST00000417545.2	37	c.481C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	5.206	0.223505	0.09863	.	.	ENSG00000150244	ENST00000417545	.	.	.	0.596	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	.	.	.	.	.	.	.	X	161	.	ENSP00000402414:Q161X	Q	+	1	0	TRIM48	54789673	0.021000	0.18746	0.003000	0.11579	0.002000	0.02628	-0.049000	0.11924	-0.489000	0.06716	-0.891000	0.02926	CAG		0.423	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	35	0	0	0	1	0	5	35				
DNAH9	1770	broad.mit.edu	37	17	11554426	11554426	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:11554426G>A	ENST00000262442.4	+	13	2206	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R713K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	713	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGAACCCAGAGAGATGAAA	0.438																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2137-2139)aGa>aAa		dynein, axonemal, heavy chain 9							126.0	125.0	125.0					17																	11554426		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11554426G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2138G>A	17.37:g.11554426G>A	ENSP00000262442:p.Arg713Lys					DNAH9_ENST00000454412.2_Missense_Mutation_p.R713K	p.R713K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	13	2206	+		Breast(5;0.0122)|all_epithelial(5;0.131)	713			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2138G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444860	0.12164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55234	0.53;0.53	5.53	-0.421	0.12332	Dynein heavy chain, domain-1 (1);	1.943060	0.01822	N	0.034129	T	0.44159	0.1280	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29822	-0.9999	10	0.62326	D	0.03	.	1.5674	0.02608	0.2775:0.2336:0.3692:0.1196	.	713	Q9NYC9	DYH9_HUMAN	K	713	ENSP00000262442:R713K;ENSP00000414874:R713K	ENSP00000262442:R713K	R	+	2	0	DNAH9	11495151	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.462000	0.21956	0.028000	0.15324	0.655000	0.94253	AGA		0.438	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		45	57	0	0	0	1	0	45	57				
SCN3A	6328	broad.mit.edu	37	2	165986537	165986537	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:165986537T>C	ENST00000360093.3	-	17	3326	c.2835A>G	c.(2833-2835)atA>atG	p.I945M	SCN3A_ENST00000283254.7_Missense_Mutation_p.I945M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I896M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	945					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGGTCTCTATCCACTCTC	0.488																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2833-2835)atA>atG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						167.0	162.0	164.0					2																	165986537		2203	4297	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986537T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2835A>G	2.37:g.165986537T>C	ENSP00000353206:p.Ile945Met					SCN3A_ENST00000409101.3_Missense_Mutation_p.I896M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I945M	p.I945M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3326	-			945					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2835A>G		.	.	.	.	.	.	.	.	.	.	T	18.02	3.529850	0.64860	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.63	3.12	0.35913	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.97514	0.9186	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.997;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.994;0.994;1.0	D	0.96370	0.9273	10	0.87932	D	0	.	7.7383	0.28827	0.1313:0.0:0.274:0.5947	.	945;896;896;896;945	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	M	945;945;896;896	ENSP00000353206:I945M;ENSP00000283254:I945M;ENSP00000386726:I896M;ENSP00000403348:I896M	ENSP00000283254:I945M	I	-	3	3	SCN3A	165694783	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.114000	0.15520	0.358000	0.24211	0.460000	0.39030	ATA		0.488	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	100	0	0	0	1	0	5	100				
WNT10A	80326	broad.mit.edu	37	2	219746967	219746967	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219746967C>T	ENST00000258411.3	+	2	831	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	66					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTGCCAGGCCTGAGCCGGC	0.602																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(196-198)ggC>ggT		wingless-type MMTV integration site family, member 10A							92.0	85.0	88.0					2																	219746967		2203	4300	6503	SO:0001819	synonymous_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746967C>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.198C>T	2.37:g.219746967C>T							p.G66G	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	831	+		Renal(207;0.0474)	66					Q53S44|Q96TA7|Q9H7S8	Silent	SNP	ENST00000258411.3	37	c.198C>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.451121	0.26074	.	.	ENSG00000135925	ENST00000458582	.	.	.	4.82	1.24	0.21308	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48043	-0.9069	4	.	.	.	.	8.1457	0.31110	0.2403:0.417:0.3427:0.0	.	.	.	.	S	29	.	.	P	+	1	0	WNT10A	219455211	0.566000	0.26618	1.000000	0.80357	0.973000	0.67179	-0.239000	0.08965	0.433000	0.26313	0.462000	0.41574	CCT		0.602	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		13	20	0	0	0	1	0	13	20				
CLCNKB	1188	broad.mit.edu	37	1	16377010	16377010	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16377010G>A	ENST00000375679.4	+	11	1079		c.e11-1		CLCNKB_ENST00000375667.3_Splice_Site	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCCCACAGCAAGCCTGTG	0.642																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.e11-1		chloride channel, voltage-sensitive Kb							146.0	115.0	125.0					1																	16377010		2203	4300	6503	SO:0001630	splice_region_variant	1188							g.chr1:16377010G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.969-1G>A	1.37:g.16377010G>A						CLCNKB_ENST00000375667.3_Splice_Site		NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	11	1079	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Splice_Site	SNP	ENST00000375679.4	37		CCDS168.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968585	0.53614	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5174	0.84304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCNKB	16249597	1.000000	0.71417	0.996000	0.52242	0.643000	0.38383	4.909000	0.63314	2.229000	0.72834	0.561000	0.74099	.		0.642	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	Intron	16	47	0	0	0	1	0	16	47				
SON	6651	broad.mit.edu	37	21	34924073	34924073	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34924073T>C	ENST00000356577.4	+	3	3011	c.2536T>C	c.(2536-2538)Tta>Cta	p.L846L	SON_ENST00000300278.4_Silent_p.L846L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.L846L|SON_ENST00000381679.4_Silent_p.L846L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	846	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCTCAGATGTTAGCAACCAG	0.493																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2536-2538)Tta>Cta		SON DNA binding protein							202.0	197.0	198.0					21																	34924073		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924073T>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2536T>C	21.37:g.34924073T>C						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.L846L|SON_ENST00000290239.6_Silent_p.L846L|SON_ENST00000300278.4_Silent_p.L846L	p.L846L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3011	+			846			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2536T>C	CCDS13629.1																																																																																				0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		85	34	0	0	0	1	0	85	34				
NDST1	3340	broad.mit.edu	37	5	149907854	149907854	+	Silent	SNP	C	C	T	rs147214079	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149907854C>T	ENST00000261797.6	+	3	1504	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	NDST1_ENST00000523767.1_Silent_p.D334D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	334	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGGAGGACGTGAAGGTAT	0.622																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1000-1002)gaC>gaT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		C		1,4405	2.1+/-5.4	0,1,2202	54.0	52.0	52.0		1002	-3.3	0.9	5	dbSNP_134	52	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	NDST1	NM_001543.4		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		334/883	149907854	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907854C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1002C>T	5.37:g.149907854C>T						NDST1_ENST00000523767.1_Silent_p.D334D	p.D334D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1504	+		all_hematologic(541;0.224)	334			Heparan sulfate N-deacetylase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.1002C>T	CCDS34277.1																																																																																				0.622	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		17	22	0	0	0	1	0	17	22				
LRP6	4040	broad.mit.edu	37	12	12274268	12274268	+	Missense_Mutation	SNP	C	C	T	rs373389670		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12274268C>T	ENST00000261349.4	-	23	4710	c.4634G>A	c.(4633-4635)cGg>cAg	p.R1545Q	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1500Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1545					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCATTCTCCGACTAGGAGC	0.537																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4633-4635)cGg>cAg		low density lipoprotein receptor-related protein 6		C	GLN/ARG	0,4406		0,0,2203	138.0	137.0	137.0		4634	5.0	1.0	12		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP6	NM_002336.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1545/1614	12274268	1,13005	2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274268C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4634G>A	12.37:g.12274268C>T	ENSP00000261349:p.Arg1545Gln					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.R1500Q	p.R1545Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4710	-		Prostate(47;0.0865)	1545					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4634G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402862	0.83230	0.0	1.16E-4	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93859	-3.2;-3.3	5.87	4.98	0.66077	.	0.111853	0.38959	N	0.001505	D	0.92437	0.7599	L	0.61218	1.895	0.48632	D	0.999684	P;D	0.56035	0.82;0.974	B;P	0.47573	0.299;0.55	D	0.91001	0.4842	10	0.37606	T	0.19	.	11.176	0.48598	0.0:0.8595:0.0:0.1405	.	1500;1545	F5H7J9;O75581	.;LRP6_HUMAN	Q	1545;1500	ENSP00000261349:R1545Q;ENSP00000442472:R1500Q	ENSP00000261349:R1545Q	R	-	2	0	LRP6	12165535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.493000	0.60341	1.490000	0.48466	0.650000	0.86243	CGG		0.537	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			24	50	0	0	0	1	0	24	50				
USP6	9098	broad.mit.edu	37	17	5037204	5037204	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5037204G>T	ENST00000574788.1	+	15	2637	c.407G>T	c.(406-408)aGg>aTg	p.R136M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.R136M|USP6_ENST00000332776.4_Missense_Mutation_p.R136M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGCAAGAGGTCATCTGAA	0.557			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(406-408)aGg>aTg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							206.0	180.0	189.0					17																	5037204		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037204G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.407G>T	17.37:g.5037204G>T	ENSP00000460380:p.Arg136Met					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.R136M|USP6_ENST00000250066.6_Missense_Mutation_p.R136M	p.R136M			P35125	UBP6_HUMAN			15	2637	+			136			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.407G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575313	0.45902	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.34859	1.34;1.34	0.862	-0.584	0.11702	Rab-GAP/TBC domain (4);	0.047968	0.85682	D	0.000000	T	0.26774	0.0655	L	0.58669	1.825	0.58432	D	0.999993	P;P	0.51537	0.946;0.851	B;B	0.41723	0.365;0.208	T	0.08659	-1.0711	10	0.87932	D	0	.	2.6311	0.04945	0.4852:0.0:0.5148:0.0	.	136;136	B9A6N0;P35125	.;UBP6_HUMAN	M	136	ENSP00000328010:R136M;ENSP00000250066:R136M	ENSP00000250066:R136M	R	+	2	0	USP6	4977928	0.001000	0.12720	0.144000	0.22314	0.145000	0.21501	-0.121000	0.10643	0.132000	0.18615	0.134000	0.15878	AGG		0.557	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		17	46	1	0	1.00905e-13	1	1.09755e-13	17	46				
ACOX1	51	broad.mit.edu	37	17	73969706	73969706	+	Splice_Site	SNP	C	C	T	rs140541455		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73969706C>T	ENST00000301608.4	-	3	490	c.430G>A	c.(430-432)Gga>Aga	p.G144R	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000591857.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	144					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GTGGACTAACCGTGGCCCATT	0.493																																						ENST00000301608.4																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.e3+1		acyl-CoA oxidase 1, palmitoyl		C	,,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	81.0	71.0	74.0		,,430	5.1	1.0	17	dbSNP_134	74	0,8600		0,0,4300	yes	intron,intron,missense-near-splice	ACOX1	NM_001185039.1,NM_004035.6,NM_007292.5	,,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,144/661	73969706	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73969706C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.430+1G>A	17.37:g.73969706C>T						ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000293217.5_Intron	p.G144_splice	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN			3	490	-			144					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Splice_Site	SNP	ENST00000301608.4	37	c.430_splice	CCDS11735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.101654|5.101654	0.94245|0.94245	2.27E-4|2.27E-4	0.0|0.0	ENSG00000161533|ENSG00000161533	ENST00000301608|ENST00000538781	D|.	0.99259|.	-5.64|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);|.	.|.	.|.	.|.	.|.	D|D	0.89743|0.89743	0.6803|0.6803	H|H	0.99325|0.99325	4.515|4.515	0.40157|0.40157	D|D	0.977017|0.977017	D|D	0.89917|0.65815	1.0|0.995	D|P	0.97110|0.56916	1.0|0.809	D|D	0.94223|0.94223	0.7469|0.7469	8|7	.|.	.|.	.|.	-17.5655|-17.5655	18.9926|18.9926	0.92800|0.92800	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	144|22	Q15067|F5H0M0	ACOX1_HUMAN|.	R|H	144|22	ENSP00000301608:G144R|.	.|.	G|R	-|-	1|2	0|0	ACOX1|ACOX1	71481301|71481301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.408000|7.408000	0.80041|0.80041	2.784000|2.784000	0.95788|0.95788	0.643000|0.643000	0.83706|0.83706	GGA|CGT		0.493	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		Missense_Mutation	8	30	0	0	0	1	0	8	30				
TACC1	6867	broad.mit.edu	37	8	38677710	38677710	+	Silent	SNP	A	A	G	rs539291470		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:38677710A>G	ENST00000317827.4	+	3	1327	c.948A>G	c.(946-948)tcA>tcG	p.S316S	TACC1_ENST00000443286.2_Silent_p.S332S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Silent_p.S121S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520973.1_Silent_p.S121S|TACC1_ENST00000520615.1_Silent_p.S121S|TACC1_ENST00000379931.3_Silent_p.S316S|TACC1_ENST00000520340.1_Silent_p.S280S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.S271S|TACC1_ENST00000348567.4_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	316	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CGAGGAGCTCACCTCTCAAGC	0.527																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(946-948)tcA>tcG		transforming, acidic coiled-coil containing protein 1							52.0	58.0	56.0					8																	38677710		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677710A>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.948A>G	8.37:g.38677710A>G						TACC1_ENST00000518415.1_Silent_p.S271S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.S121S|TACC1_ENST00000317827.4_Silent_p.S316S|TACC1_ENST00000443286.2_Silent_p.S332S|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Silent_p.S121S|TACC1_ENST00000520340.1_Silent_p.S280S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Silent_p.S121S	p.S316S			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1327	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	316			Interaction with YEATS4.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.948A>G	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	2.700	-0.271263	0.05716	.	.	ENSG00000147526	ENST00000521866	.	.	.	5.41	-0.173	0.13322	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	0.3869	1.0172	0.01510	0.3227:0.3284:0.2019:0.147	.	.	.	.	R	91	.	.	H	+	2	0	TACC1	38796867	0.000000	0.05858	0.442000	0.26870	0.134000	0.20937	0.279000	0.18771	0.032000	0.15435	0.460000	0.39030	CAC		0.527	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		14	17	0	0	0	1	0	14	17				
FOXN2	3344	broad.mit.edu	37	2	48602517	48602517	+	Missense_Mutation	SNP	C	C	T	rs377347494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48602517C>T	ENST00000340553.3	+	7	1492	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	411					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGCTGGAATTCGTACATGTTT	0.393																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1231-1233)Cgt>Tgt		forkhead box N2		C	CYS/ARG	0,4406		0,0,2203	37.0	38.0	38.0		1231	5.5	1.0	2		38	1,8599		0,1,4299	no	missense	FOXN2	NM_002158.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	411/432	48602517	1,13005	2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602517C>T		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.1231C>T	2.37:g.48602517C>T	ENSP00000343633:p.Arg411Cys						p.R411C	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1492	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	411					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.1231C>T	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175279	0.78564	0.0	1.16E-4	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.96522	-4.04	5.49	5.49	0.81192	.	0.051418	0.85682	D	0.000000	D	0.96430	0.8835	L	0.58810	1.83	0.58432	D	0.999996	D	0.76494	0.999	P	0.53185	0.72	D	0.96423	0.9313	10	0.87932	D	0	.	15.2123	0.73235	0.141:0.859:0.0:0.0	.	411	P32314	FOXN2_HUMAN	C	320;411	ENSP00000343633:R411C	ENSP00000305685:R320C	R	+	1	0	FOXN2	48456021	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	3.701000	0.54793	2.857000	0.98124	0.650000	0.86243	CGT		0.393	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		3	23	0	0	0	1	0	3	23				
ATIC	471	broad.mit.edu	37	2	216214268	216214268	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:216214268G>A	ENST00000236959.9	+	16	1995	c.1669G>A	c.(1669-1671)Gcg>Acg	p.A557T	ATIC_ENST00000435675.1_Missense_Mutation_p.A556T|ATIC_ENST00000540518.1_Missense_Mutation_p.A498T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	557					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GAGTGGTGTGGCGTACATTGC	0.463			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1666-1668)Gcg>Acg		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						113.0	103.0	107.0					2																	216214268		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216214268G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1669G>A	2.37:g.216214268G>A	ENSP00000236959:p.Ala557Thr					ATIC_ENST00000236959.9_Missense_Mutation_p.A557T|ATIC_ENST00000540518.1_Missense_Mutation_p.A498T	p.A556T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	15	2057	+		Renal(323;0.229)	557					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1666G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034226	0.35893	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.98	5.1	0.69264	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.332724	0.34986	N	0.003522	T	0.46151	0.1378	N	0.02708	-0.52	0.34274	D	0.681386	B;B	0.16802	0.019;0.007	B;B	0.16289	0.015;0.01	T	0.53092	-0.8487	10	0.13853	T	0.58	-9.5537	8.9023	0.35501	0.0809:0.2725:0.6466:0.0	.	556;557	E9PBU3;P31939	.;PUR9_HUMAN	T	557;498;556;72	ENSP00000236959:A557T;ENSP00000440523:A498T;ENSP00000415935:A556T;ENSP00000391399:A72T	ENSP00000236959:A557T	A	+	1	0	ATIC	215922513	1.000000	0.71417	0.996000	0.52242	0.268000	0.26511	3.145000	0.50623	2.835000	0.97688	0.650000	0.86243	GCG		0.463	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		6	42	0	0	0	1	0	6	42				
JAK2	3717	broad.mit.edu	37	9	5069188	5069188	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:5069188G>A	ENST00000381652.3	+	11	1987	c.1493G>A	c.(1492-1494)tGc>tAc	p.C498Y	JAK2_ENST00000539801.1_Missense_Mutation_p.C498Y|JAK2_ENST00000544510.1_Missense_Mutation_p.C349Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	498					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTACTAAATGCTGTCCCCCA	0.343		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1492-1494)tGc>tAc		Janus kinase 2							58.0	59.0	59.0					9																	5069188		2203	4299	6502	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5069188G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1493G>A	9.37:g.5069188G>A	ENSP00000371067:p.Cys498Tyr					JAK2_ENST00000539801.1_Missense_Mutation_p.C498Y|JAK2_ENST00000544510.1_Missense_Mutation_p.C349Y	p.C498Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1987	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	498					O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1493G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193948	0.58017	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.25250	1.81;1.81;1.81	4.81	4.81	0.61882	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.81497	2.545	0.80722	D	1	D	0.63880	0.993	P	0.55161	0.77	T	0.58289	-0.7662	10	0.87932	D	0	-7.6567	17.8943	0.88881	0.0:0.0:1.0:0.0	.	498	O60674	JAK2_HUMAN	Y	498;498;349	ENSP00000440387:C498Y;ENSP00000371067:C498Y;ENSP00000443103:C349Y	ENSP00000371067:C498Y	C	+	2	0	JAK2	5059188	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.427000	0.97472	2.198000	0.70561	0.591000	0.81541	TGC		0.343	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			13	34	0	0	0	1	0	13	34				
DSG4	147409	broad.mit.edu	37	18	28993158	28993158	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:28993158C>T	ENST00000308128.4	+	16	2858	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.T927I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	908					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTATTGTGACTGAGACTTAC	0.423																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2779-2781)aCt>aTt		desmoglein 4							168.0	156.0	160.0					18																	28993158		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993158C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2723C>T	18.37:g.28993158C>T	ENSP00000311859:p.Thr908Ile					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.T908I	p.T927I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2809	+			908					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2780C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826286	0.50739	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.81330	-1.48;-1.48	5.65	5.65	0.86999	.	0.000000	0.35772	N	0.002982	D	0.90283	0.6961	M	0.78456	2.415	0.45580	D	0.998521	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.90892	0.4762	10	0.87932	D	0	.	19.3326	0.94297	0.0:1.0:0.0:0.0	.	927;908	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	908;927	ENSP00000311859:T908I;ENSP00000352785:T927I	ENSP00000311859:T908I	T	+	2	0	DSG4	27247156	0.996000	0.38824	1.000000	0.80357	0.194000	0.23727	3.776000	0.55356	2.655000	0.90218	0.655000	0.94253	ACT		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		56	87	0	0	0	1	0	56	87				
IL20RA	53832	broad.mit.edu	37	6	137323047	137323047	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:137323047G>A	ENST00000316649.5	-	7	1545	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	IL20RA_ENST00000367748.1_Missense_Mutation_p.A326V|IL20RA_ENST00000468393.1_5'Flank|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.A388V	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	437					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTGCCAACGCTGCCTGCGA	0.572																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(976-978)gCg>gTg		interleukin 20 receptor, alpha							75.0	63.0	67.0					6																	137323047		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137323047G>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1310C>T	6.37:g.137323047G>A	ENSP00000314976:p.Ala437Val					IL20RA_ENST00000316649.5_Missense_Mutation_p.A437V|IL20RA_ENST00000541547.1_Missense_Mutation_p.A388V	p.A326V			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	6	1563	-	Colorectal(23;0.24)		437					B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.977C>T	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831636	0.32329	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.67345	-0.02;1.48;-0.26	5.76	3.95	0.45737	.	2.626200	0.00786	N	0.001306	T	0.43875	0.1267	L	0.50333	1.59	0.09310	N	1	B;D	0.56521	0.049;0.976	B;B	0.41174	0.023;0.349	T	0.24621	-1.0155	10	0.30078	T	0.28	-0.229	8.8124	0.34976	0.08:0.1504:0.7696:0.0	.	326;437	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	437;326;388	ENSP00000314976:A437V;ENSP00000356722:A326V;ENSP00000437843:A388V	ENSP00000314976:A437V	A	-	2	0	IL20RA	137364740	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.631000	0.24568	0.760000	0.33108	-0.136000	0.14681	GCG		0.572	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		10	49	0	0	0	1	0	10	49				
RYR1	6261	broad.mit.edu	37	19	38976522	38976522	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38976522G>A	ENST00000359596.3	+	34	5227	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000355481.4_Missense_Mutation_p.A1743T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1743	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGACCCGCGCCATCACGCT	0.622																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5227-5229)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						64.0	62.0	63.0					19																	38976522		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976522G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5227G>A	19.37:g.38976522G>A	ENSP00000352608:p.Ala1743Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T	p.A1743T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5358	+	all_cancers(60;7.91e-06)		1743			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5227G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297479	0.40694	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	3.77	1.49	0.22878	.	0.137822	0.45126	U	0.000388	T	0.41581	0.1165	N	0.14661	0.345	0.29121	N	0.880273	B;B	0.33940	0.433;0.274	B;B	0.26614	0.071;0.056	T	0.23368	-1.0190	10	0.19590	T	0.45	.	4.2144	0.10528	0.5402:0.0:0.4598:0.0	.	1743;1743	P21817-2;P21817	.;RYR1_HUMAN	T	1743	ENSP00000352608:A1743T;ENSP00000347667:A1743T;ENSP00000354254:A1743T	ENSP00000347667:A1743T	A	+	1	0	RYR1	43668362	0.108000	0.22018	1.000000	0.80357	0.613000	0.37349	0.876000	0.28092	0.796000	0.33947	-0.225000	0.12378	GCC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			20	33	0	0	0	1	0	20	33				
CSMD3	114788	broad.mit.edu	37	8	113519034	113519034	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113519034C>A	ENST00000297405.5	-	29	5025	c.4781G>T	c.(4780-4782)gGa>gTa	p.G1594V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1490V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1554V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1594V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1594	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCTGAAGATCCTGTTAAATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4780-4782)gGa>gTa		CUB and Sushi multiple domains 3							98.0	93.0	95.0					8																	113519034		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113519034C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4781G>T	8.37:g.113519034C>A	ENSP00000297405:p.Gly1594Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G1554V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1594V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1490V	p.G1594V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			29	5025	-			1594			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4781G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067751	0.76301	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.99	4.99	0.66335	CUB (5);	0.073455	0.53938	D	0.000052	T	0.43166	0.1235	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.986;0.98;0.999	D;P;D	0.74023	0.913;0.862;0.982	T	0.19976	-1.0289	10	0.39692	T	0.17	.	18.4644	0.90750	0.0:1.0:0.0:0.0	.	1490;1594;1554	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1554;1594;934;1490;1594	ENSP00000345799:G1554V;ENSP00000297405:G1594V;ENSP00000341558:G934V;ENSP00000412263:G1490V;ENSP00000343124:G1594V	ENSP00000297405:G1594V	G	-	2	0	CSMD3	113588210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.922000	0.70036	2.587000	0.87381	0.557000	0.71058	GGA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	18	1	0	0.0293803	1	0.0295506	7	18				
TNIP1	10318	broad.mit.edu	37	5	150436423	150436423	+	Silent	SNP	G	G	A	rs376731584		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150436423G>A	ENST00000389378.2	-	6	1119	c.531C>T	c.(529-531)caC>caT	p.H177H	TNIP1_ENST00000523338.1_Silent_p.H177H|TNIP1_ENST00000521591.1_Silent_p.H177H|TNIP1_ENST00000524280.1_Silent_p.H177H|TNIP1_ENST00000520931.1_Silent_p.H124H|TNIP1_ENST00000518977.1_Silent_p.H177H|TNIP1_ENST00000522226.1_Silent_p.H177H|TNIP1_ENST00000315050.7_Silent_p.H177H|TNIP1_ENST00000523200.1_Silent_p.H177H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	177	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGCTGGCCGTGGTCCGGCT	0.657																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(529-531)caC>caT		TNFAIP3 interacting protein 1		G		1,4405	2.1+/-5.4	0,1,2202	40.0	40.0	40.0		531	3.2	1.0	5		40	0,8600		0,0,4300	no	coding-synonymous	TNIP1	NM_006058.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		177/637	150436423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436423G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.531C>T	5.37:g.150436423G>A						TNIP1_ENST00000523338.1_Silent_p.H177H|TNIP1_ENST00000520931.1_Silent_p.H124H|TNIP1_ENST00000521591.1_Silent_p.H177H|TNIP1_ENST00000524280.1_Silent_p.H177H|TNIP1_ENST00000522226.1_Silent_p.H177H|TNIP1_ENST00000518977.1_Silent_p.H177H|TNIP1_ENST00000315050.7_Silent_p.H177H|TNIP1_ENST00000523200.1_Silent_p.H177H	p.H177H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1119	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	177			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	c.531C>T	CCDS34280.1																																																																																				0.657	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		22	19	0	0	0	1	0	22	19				
COL24A1	255631	broad.mit.edu	37	1	86203178	86203178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86203178C>T	ENST00000370571.2	-	58	5049	c.4683G>A	c.(4681-4683)tgG>tgA	p.W1561*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.W1540*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1561	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGGGTCAATCCAGTATTTTC	0.343																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4681-4683)tgG>tgA		collagen, type XXIV, alpha 1							55.0	53.0	53.0					1																	86203178		1845	4086	5931	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86203178C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4683G>A	1.37:g.86203178C>T	ENSP00000359603:p.Trp1561*					COL24A1_ENST00000436319.1_Nonsense_Mutation_p.W1540*	p.W1561*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	58	5049	-			1561			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.4683G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	44	10.713958	0.99455	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	4.68	4.68	0.58851	.	0.000000	0.35585	N	0.003119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7873	0.88542	0.0:1.0:0.0:0.0	.	.	.	.	X	1561;1540	.	ENSP00000359603:W1561X	W	-	3	0	COL24A1	85975766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.434000	0.80377	2.417000	0.82017	0.563000	0.77884	TGG		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	16	0	0	0	1	0	9	16				
PCDHGA1	56114	broad.mit.edu	37	5	140712162	140712162	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140712162G>A	ENST00000517417.1	+	1	1911	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	PCDHGA1_ENST00000378105.3_Silent_p.A637A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A637A(1)		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)			ACAGAGACGCGCTCAAGCAGA	0.697																																						ENST00000517417.1																			1	Substitution - coding silent(1)	p.A637A(1)	ovary(1)	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						c.(1909-1911)gcG>gcA									38.0	43.0	41.0					5																	140712162		2200	4297	6497	SO:0001819	synonymous_variant	0							g.chr5:140712162G>A	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.1911G>A	5.37:g.140712162G>A						PCDHGA1_ENST00000378105.3_Silent_p.A637A	p.A637A	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1911	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1911G>A	CCDS54922.1																																																																																				0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		25	17	0	0	0	1	0	25	17				
PREP	5550	broad.mit.edu	37	6	105781268	105781268	+	Silent	SNP	G	G	A	rs147800201		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:105781268G>A	ENST00000369110.3	-	8	1128	c.936C>T	c.(934-936)cgC>cgT	p.R312R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	312					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TGTTGATCACGCGATAGTTGG	0.448																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(934-936)cgC>cgT		prolyl endopeptidase	Oxytocin(DB00107)	G		1,4405	2.1+/-5.4	0,1,2202	252.0	204.0	220.0		936	0.9	1.0	6	dbSNP_134	220	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREP	NM_002726.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		312/711	105781268	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105781268G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.936C>T	6.37:g.105781268G>A							p.R312R	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			8	1128	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	312					Q8N6D4	Silent	SNP	ENST00000369110.3	37	c.936C>T	CCDS5053.1																																																																																				0.448	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			5	101	0	0	0	1	0	5	101				
PPP1R12C	54776	broad.mit.edu	37	19	55624037	55624037	+	Missense_Mutation	SNP	C	C	T	rs202214879	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55624037C>T	ENST00000263433.3	-	2	463	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A150T|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A76T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.A150T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCACCTGGCGATATCTAGG	0.692													C|||	4	0.000798722	0.0	0.0	5008	,	,		15519	0.004		0.0	False		,,,				2504	0.0					ENST00000263433.3																			1	Substitution - Missense(1)	p.A150T(1)	endometrium(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(448-450)Gcc>Acc		protein phosphatase 1, regulatory subunit 12C		C	THR/ALA	0,4406		0,0,2203	44.0	42.0	43.0		448	1.3	0.9	19		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R12C	NM_017607.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	150/783	55624037	1,13005	2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55624037C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.448G>A	19.37:g.55624037C>T	ENSP00000263433:p.Ala150Thr					PPP1R12C_ENST00000435544.2_Missense_Mutation_p.A76T|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.A150T	p.A150T	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	463	-			150						Missense_Mutation	SNP	ENST00000263433.3	37	c.448G>A	CCDS12916.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.18	2.758395	0.49468	0.0	1.16E-4	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67523	-0.27;-0.27;-0.27	4.71	1.3	0.21679	Ankyrin repeat-containing domain (4);	0.188366	0.44285	D	0.000468	T	0.53126	0.1777	L	0.50847	1.595	0.51233	D	0.999918	B;B;B	0.26147	0.143;0.118;0.143	B;B;B	0.18561	0.022;0.007;0.013	T	0.39603	-0.9606	10	0.27082	T	0.32	.	8.1569	0.31173	0.0:0.6128:0.3016:0.0857	.	76;150;150	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	T	150;150;76	ENSP00000263433:A150T;ENSP00000365573:A150T;ENSP00000387833:A76T	ENSP00000263433:A150T	A	-	1	0	PPP1R12C	60315849	0.426000	0.25506	0.862000	0.33874	0.578000	0.36192	1.712000	0.37940	0.288000	0.22398	0.561000	0.74099	GCC		0.692	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		14	19	0	0	0	1	0	14	19				
L3MBTL1	26013	broad.mit.edu	37	20	42169534	42169534	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42169534C>T	ENST00000373134.1	+	18	2237	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.R735C|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000427442.2_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCTCCCCAGCGTCACTTCTG	0.582																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(2203-2205)Cgt>Tgt		l(3)mbt-like 1 (Drosophila)							58.0	56.0	57.0					20																	42169534		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42169534C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000373134.1:c.2218C>T	20.37:g.42169534C>T	ENSP00000362226:p.Arg740Cys					L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R740C|L3MBTL1_ENST00000373135.3_Intron	p.R735C			Q9Y468	LMBL1_HUMAN			18	2335	+			0			SAM.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000373134.1	37	c.2203C>T		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695288	0.30052	.	.	ENSG00000185513	ENST00000444063;ENST00000373134;ENST00000373133	T;T	0.21191	2.02;2.02	4.16	1.16	0.20824	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34775	-0.9815	7	.	.	.	.	5.6258	0.17482	0.0:0.6533:0.0:0.3467	.	387;735	Q9Y468-3;Q9Y468-2	.;.	C	735;740;387	ENSP00000403316:R735C;ENSP00000362226:R740C	.	R	+	1	0	L3MBTL1	41602948	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-0.732000	0.04904	0.475000	0.27415	-0.232000	0.12228	CGT		0.582	L3MBTL1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000079296.2	NM_032107		4	9	0	0	0	1	0	4	9				
RAVER1	125950	broad.mit.edu	37	19	10439365	10439365	+	Missense_Mutation	SNP	C	C	T	rs372282298		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10439365C>T	ENST00000293677.6	-	3	841	c.760G>A	c.(760-762)Gct>Act	p.A254T		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	237	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGGCACAGAGCGTCCACATCG	0.667																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(760-762)Gct>Act		ribonucleoprotein, PTB-binding 1		C	THR/ALA	0,4256		0,0,2128	11.0	13.0	12.0		760	4.1	1.0	19		12	1,8477		0,1,4238	no	missense	RAVER1	NM_133452.2	58	0,1,6366	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	254/757	10439365	1,12733	2128	4239	6367	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439365C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.760G>A	19.37:g.10439365C>T	ENSP00000293677:p.Ala254Thr						p.A254T	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	841	-			237			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.760G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870009	0.17322	0.0	1.18E-4	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.08008	3.14	5.08	4.05	0.47172	.	0.111526	0.56097	D	0.000021	T	0.08133	0.0203	L	0.38175	1.15	0.39711	D	0.971323	B	0.06786	0.001	B	0.04013	0.001	T	0.11665	-1.0578	10	0.52906	T	0.07	-22.0349	11.5735	0.50848	0.0:0.9129:0.0:0.0871	.	254	E9PAU2	.	T	254;237	ENSP00000293677:A254T	ENSP00000293677:A254T	A	-	1	0	RAVER1	10300365	0.502000	0.26107	0.969000	0.41365	0.003000	0.03518	1.193000	0.32162	1.155000	0.42497	-0.119000	0.15052	GCT		0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	0	0	0	0	1	0	4	0				
XRCC6	2547	broad.mit.edu	37	22	42032741	42032741	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42032741G>A	ENST00000359308.4	+	4	1211	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	XRCC6_ENST00000405878.1_Missense_Mutation_p.A186T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A186T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A136T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A53T|XRCC6_ENST00000402580.3_Missense_Mutation_p.A145T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	186					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCAGCCGGGCCAGGACCAA	0.423								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(556-558)Gcc>Acc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							62.0	64.0	63.0					22																	42032741		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42032741G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.556G>A	22.37:g.42032741G>A	ENSP00000352257:p.Ala186Thr					XRCC6_ENST00000402580.3_Missense_Mutation_p.A145T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A53T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A136T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A186T|XRCC6_ENST00000405878.1_Missense_Mutation_p.A186T	p.A186T			P12956	XRCC6_HUMAN			4	1211	+			186					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.556G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465246	0.96257	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.39	5.39	0.77823	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.53617	1.68	0.80722	D	1	D;D;D;D	0.89917	0.999;0.961;1.0;0.995	D;D;D;D	0.91635	0.975;0.917;0.999;0.963	T	0.68671	-0.5347	9	0.18710	T	0.47	-16.3524	19.1841	0.93635	0.0:0.0:1.0:0.0	.	136;186;145;186	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	T	186;145;53;186;186;186;136	.	ENSP00000352257:A186T	A	+	1	0	XRCC6	40362687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	GCC		0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		5	52	0	0	0	1	0	5	52				
P2RX1	5023	broad.mit.edu	37	17	3819513	3819513	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3819513G>A	ENST00000225538.3	-	1	281	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	3					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGGAACCGCCGTGCCATGGTG	0.637																																						ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(7-9)Cgg>Tgg		purinergic receptor P2X, ligand-gated ion channel, 1							51.0	58.0	56.0					17																	3819513		2202	4299	6501	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3819513G>A	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.7C>T	17.37:g.3819513G>A	ENSP00000225538:p.Arg3Trp						p.R3W	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	1	281	-			3					Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.7C>T	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733348	0.48939	.	.	ENSG00000108405	ENST00000225538	T	0.05258	3.47	4.7	2.49	0.30216	.	1.012260	0.07903	N	0.972964	T	0.05686	0.0149	L	0.32530	0.975	0.27194	N	0.960335	D	0.56968	0.978	B	0.36766	0.232	T	0.39941	-0.9589	10	0.72032	D	0.01	-8.2458	10.4863	0.44724	0.0:0.1434:0.7087:0.1479	.	3	P51575	P2RX1_HUMAN	W	3	ENSP00000225538:R3W	ENSP00000225538:R3W	R	-	1	2	P2RX1	3766262	0.121000	0.22262	0.548000	0.28192	0.694000	0.40290	2.225000	0.42954	1.061000	0.40601	0.491000	0.48974	CGG		0.637	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		4	82	0	0	0	1	0	4	82				
LIG4	3981	broad.mit.edu	37	13	108861786	108861786	+	Missense_Mutation	SNP	C	C	T	rs187323251		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:108861786C>T	ENST00000356922.4	-	2	2103	c.1831G>A	c.(1831-1833)Gca>Aca	p.A611T	LIG4_ENST00000405925.1_Missense_Mutation_p.A611T|LIG4_ENST00000442234.1_Missense_Mutation_p.A611T	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	611					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGTTTAGATGCGAGCTTACCA	0.423								Non-homologous end-joining					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.0					ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1831-1833)Gca>Aca	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							91.0	90.0	90.0					13																	108861786		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861786C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1831G>A	13.37:g.108861786C>T	ENSP00000349393:p.Ala611Thr					LIG4_ENST00000405925.1_Missense_Mutation_p.A611T|LIG4_ENST00000442234.1_Missense_Mutation_p.A611T	p.A611T	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2103	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		611					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1831G>A	CCDS9508.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.03	1.518032	0.27211	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62788	0.0;0.0;0.0	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.62723	1.935	0.80722	D	1	P	0.39352	0.669	B	0.30401	0.115	T	0.56745	-0.7928	10	0.13108	T	0.6	.	18.907	0.92466	0.0:1.0:0.0:0.0	.	611	P49917	DNLI4_HUMAN	T	611	ENSP00000385955:A611T;ENSP00000402030:A611T;ENSP00000349393:A611T	ENSP00000349393:A611T	A	-	1	0	LIG4	107659787	1.000000	0.71417	0.350000	0.25708	0.100000	0.18952	7.424000	0.80242	2.697000	0.92050	0.551000	0.68910	GCA		0.423	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		28	40	0	0	0	1	0	28	40				
ANAPC4	29945	broad.mit.edu	37	4	25382011	25382011	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25382011C>T	ENST00000315368.3	+	3	287	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	ANAPC4_ENST00000510092.1_Silent_p.L49L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ACTTCATCGACTGGCAAGTTT	0.348																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(145-147)Ctg>Ttg		anaphase promoting complex subunit 4							95.0	93.0	94.0					4																	25382011		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25382011C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.145C>T	4.37:g.25382011C>T						ANAPC4_ENST00000510092.1_Silent_p.L49L	p.L49L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			3	287	+		Breast(46;0.0503)	49					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.145C>T	CCDS3434.1																																																																																				0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		7	15	0	0	0	1	0	7	15				
LMNB2	84823	broad.mit.edu	37	19	2434012	2434012	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2434012C>T	ENST00000582871.1	-	8	1320	c.1234G>A	c.(1234-1236)Ggc>Agc	p.G412S	LMNB2_ENST00000325327.3_Missense_Mutation_p.G432S|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	412	Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTGCGGCCCAGGCGCCCG	0.721																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1294-1296)Ggc>Agc		lamin B2							9.0	11.0	11.0					19																	2434012		2165	4253	6418	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434012C>T	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1234G>A	19.37:g.2434012C>T	ENSP00000462730:p.Gly412Ser					LMNB2_ENST00000582871.1_Missense_Mutation_p.G412S	p.G432S			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1356	-		Hepatocellular(1079;0.137)	412	LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		Tail.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.1294G>A		.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012093	0.07727	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.27	1.99	0.26369	.	0.159384	0.41938	D	0.000793	T	0.15176	0.0366	N	0.10972	0.075	0.09310	N	0.999999	B	0.14012	0.009	B	0.12156	0.007	T	0.16689	-1.0394	8	.	.	.	.	4.8669	0.13613	0.4116:0.4685:0.0:0.12	.	412	Q03252	LMNB2_HUMAN	S	412	.	.	G	-	1	0	LMNB2	2385012	0.320000	0.24616	0.286000	0.24833	0.464000	0.32679	0.771000	0.26633	0.790000	0.33803	0.561000	0.74099	GGC		0.721	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		6	7	0	0	0	1	0	6	7				
HK2	3099	broad.mit.edu	37	2	75115100	75115100	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:75115100C>T	ENST00000290573.2	+	16	2890	c.2290C>T	c.(2290-2292)Cgt>Tgt	p.R764C	HK2_ENST00000409174.1_Missense_Mutation_p.R736C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	764	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCACCAAGCGTGGACTACT	0.478																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2290-2292)Cgt>Tgt		hexokinase 2							161.0	140.0	147.0					2																	75115100		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75115100C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2290C>T	2.37:g.75115100C>T	ENSP00000290573:p.Arg764Cys					HK2_ENST00000409174.1_Missense_Mutation_p.R736C	p.R764C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			16	2890	+			764			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2290C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876441	0.72180	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96427	-4.01;-4.01	4.72	4.72	0.59763	Hexokinase, C-terminal (1);	0.092749	0.64402	D	0.000001	D	0.96978	0.9013	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.96873	0.9641	10	0.54805	T	0.06	-7.9874	15.5668	0.76300	0.0:1.0:0.0:0.0	.	764	P52789	HXK2_HUMAN	C	764;764;736	ENSP00000290573:R764C;ENSP00000387140:R736C	ENSP00000290573:R764C	R	+	1	0	HK2	74968608	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	1.050000	0.30404	2.623000	0.88846	0.555000	0.69702	CGT		0.478	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		21	42	0	0	0	1	0	21	42				
RELN	5649	broad.mit.edu	37	7	103131217	103131217	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103131217C>T	ENST00000428762.1	-	59	9662	c.9503G>A	c.(9502-9504)gGc>gAc	p.G3168D	RELN_ENST00000424685.2_Missense_Mutation_p.G3168D|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3168D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3168					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGGAGCAGCCAATGCTGTT	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9502-9504)gGc>gAc		reelin							112.0	103.0	106.0					7																	103131217		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103131217C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9503G>A	7.37:g.103131217C>T	ENSP00000392423:p.Gly3168Asp					RELN_ENST00000343529.5_Missense_Mutation_p.G3168D|RELN_ENST00000424685.2_Missense_Mutation_p.G3168D|CTB-107G13.1_ENST00000422488.1_RNA	p.G3168D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	59	9662	-			3168					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9503G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661716	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	N	0.17082	0.46	0.80722	D	1	P;P	0.36909	0.542;0.573	P;P	0.45794	0.493;0.464	T	0.03364	-1.1044	10	0.30078	T	0.28	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	3168;3168	P78509-2;P78509	.;RELN_HUMAN	D	3168;3168;3168;685;3168	ENSP00000392423:G3168D;ENSP00000345694:G3168D;ENSP00000388446:G3168D	ENSP00000345694:G3168D	G	-	2	0	RELN	102918453	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.280000	0.78610	2.706000	0.92434	0.650000	0.86243	GGC		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	33	0	0	0	1	0	30	33				
ADRA2C	152	broad.mit.edu	37	4	3769056	3769056	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:3769056G>A	ENST00000330055.5	+	1	932	c.723G>A	c.(721-723)acG>acA	p.T241T	ADRA2C_ENST00000509482.1_Silent_p.T241T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	241					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCTGCGCACGCGCACGCTCA	0.706																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(721-723)acG>acA		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						11.0	12.0	12.0					4																	3769056		2090	4196	6286	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769056G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.723G>A	4.37:g.3769056G>A						ADRA2C_ENST00000509482.1_Silent_p.T241T	p.T241T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	932	+			241					P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.723G>A	CCDS47004.1																																																																																				0.706	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	6	0	0	0	1	0	3	6				
PANK4	55229	broad.mit.edu	37	1	2452330	2452330	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2452330G>A	ENST00000378466.3	-	4	450	c.438C>T	c.(436-438)gaC>gaT	p.D146D	PANK4_ENST00000435556.3_Intron|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	146					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACGTCATCACGTCCTCCTTGT	0.572																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(436-438)gaC>gaT		pantothenate kinase 4							113.0	109.0	111.0					1																	2452330		2203	4300	6503	SO:0001819	synonymous_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452330G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.438C>T	1.37:g.2452330G>A						PANK4_ENST00000435556.3_Intron	p.D146D	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	4	450	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	146					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	c.438C>T	CCDS42.1																																																																																				0.572	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			28	16	0	0	0	1	0	28	16				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094429	77094429	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:77094429T>C	ENST00000328299.3	+	5	1004	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	286					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGAAAGTGTTTGCTAAATG	0.378																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(856-858)Ttt>Ctt		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							171.0	173.0	173.0					1																	77094429		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094429T>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.856T>C	1.37:g.77094429T>C	ENSP00000329214:p.Phe286Leu						p.F286L	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			5	1004	+			286					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.856T>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	t	22.6	4.312910	0.81358	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.24723	1.84	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.86502	2.82	0.54753	D	0.999986	D;D	0.89917	0.99;1.0	P;D	0.83275	0.883;0.996	T	0.53070	-0.8490	10	0.40728	T	0.16	-38.5572	15.8061	0.78513	0.0:0.0:0.0:1.0	.	185;286	B4DM98;Q8NDV1	.;SIA7C_HUMAN	L	286;285;184	ENSP00000329214:F286L	ENSP00000329214:F286L	F	+	1	0	ST6GALNAC3	76867017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.191000	0.70037	0.524000	0.50904	TTT		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		4	76	0	0	0	1	0	4	76				
GUCY2D	3000	broad.mit.edu	37	17	7919139	7919139	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7919139G>A	ENST00000254854.4	+	16	3173	c.3023G>A	c.(3022-3024)cGc>cAc	p.R1008H		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1008	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACCGCCTCGCGCATGGAGTCC	0.697																																						ENST00000254854.4																			0				skin(1)	1						c.(3022-3024)cGc>cAc		guanylate cyclase 2D, membrane (retina-specific)							29.0	26.0	27.0					17																	7919139		2203	4299	6502	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7919139G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3023G>A	17.37:g.7919139G>A	ENSP00000254854:p.Arg1008His						p.R1008H	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			16	3173	+		Prostate(122;0.157)	1008			Guanylate cyclase.		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.3023G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293236	0.80914	.	.	ENSG00000132518	ENST00000254854	D	0.87179	-2.22	4.22	4.22	0.49857	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.47852	D	0.000209	D	0.91178	0.7221	M	0.92169	3.28	0.44289	D	0.997156	P	0.52316	0.952	P	0.45428	0.48	D	0.93717	0.7029	10	0.72032	D	0.01	.	15.8648	0.79057	0.0:0.0:1.0:0.0	.	1008	Q02846	GUC2D_HUMAN	H	1008	ENSP00000254854:R1008H	ENSP00000254854:R1008H	R	+	2	0	GUCY2D	7859864	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.593000	0.82686	2.346000	0.79739	0.313000	0.20887	CGC		0.697	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			11	9	0	0	0	1	0	11	9				
ATP8B3	148229	broad.mit.edu	37	19	1797000	1797000	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1797000C>T	ENST00000310127.6	-	15	1795	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	ATP8B3_ENST00000539485.1_Silent_p.P519P|ATP8B3_ENST00000525591.1_Silent_p.P472P	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	519					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTGAATCCGGCCCTGGGG	0.692																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1555-1557)ccG>ccA		ATPase, aminophospholipid transporter, class I, type 8B, member 3							38.0	45.0	42.0					19																	1797000		1982	4155	6137	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1797000C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1557G>A	19.37:g.1797000C>T						ATP8B3_ENST00000310127.6_Silent_p.P519P|ATP8B3_ENST00000525591.1_Silent_p.P472P	p.P519P			O60423	AT8B3_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)	15	1790	-		Hepatocellular(1079;0.137)	519					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.1557G>A	CCDS45901.1																																																																																				0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		13	16	0	0	0	1	0	13	16				
TTC6	319089	broad.mit.edu	37	14	38273919	38273919	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38273919C>T	ENST00000476979.1	+	5	544	c.257C>T	c.(256-258)gCc>gTc	p.A86V	TTC6_ENST00000382320.3_Missense_Mutation_p.A69V|TTC6_ENST00000553443.1_Missense_Mutation_p.A1355V|TTC6_ENST00000267368.7_Missense_Mutation_p.A86V			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	86										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCTTTGGATGCCATTTCTCAT	0.398																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(4063-4065)gCc>gTc		tetratricopeptide repeat domain 6							202.0	189.0	194.0					14																	38273919		2203	4300	6503	SO:0001583	missense	319089							g.chr14:38273919C>T	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.257C>T	14.37:g.38273919C>T	ENSP00000417788:p.Ala86Val					TTC6_ENST00000267368.7_Missense_Mutation_p.A86V|TTC6_ENST00000382320.3_Missense_Mutation_p.A69V|TTC6_ENST00000476979.1_Missense_Mutation_p.A86V	p.A1355V					Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	21	4064	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.4064C>T		.	.	.	.	.	.	.	.	.	.	C	0.152	-1.090364	0.01873	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.54071	0.59;1.21;1.21;0.64	5.05	1.38	0.22167	Tetratricopeptide-like helical (1);	1.745290	0.03092	N	0.159976	T	0.29223	0.0727	.	.	.	0.19945	N	0.999948	B;B	0.17465	0.022;0.0	B;B	0.16289	0.015;0.0	T	0.33497	-0.9866	8	0.02654	T	1	-5.3317	8.3869	0.32505	0.0:0.2369:0.0:0.7631	.	1355;86	G3V3A5;Q86TZ1	.;TTC6_HUMAN	V	1355;86;86;69	ENSP00000451131:A1355V;ENSP00000417788:A86V;ENSP00000267368:A86V;ENSP00000371757:A69V	ENSP00000267368:A86V	A	+	2	0	TTC6	37343670	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.094000	0.30951	0.056000	0.16144	-0.946000	0.02672	GCC		0.398	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		77	92	0	0	0	1	0	77	92				
OSBPL11	114885	broad.mit.edu	37	3	125271044	125271044	+	Silent	SNP	G	G	A	rs572429737		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:125271044G>A	ENST00000296220.5	-	9	1924	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	545					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCATTGTCACGCCTATTGACA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		14280	0.0		0.0	False		,,,				2504	0.001					ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1633-1635)ggC>ggT		oxysterol binding protein-like 11							110.0	102.0	104.0					3																	125271044		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125271044G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1635C>T	3.37:g.125271044G>A							p.G545G	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			9	1924	-			545					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.1635C>T	CCDS3033.1																																																																																				0.338	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		25	44	0	0	0	1	0	25	44				
RAD17	5884	broad.mit.edu	37	5	68670493	68670493	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:68670493C>T	ENST00000509734.1	+	5	1017	c.339C>T	c.(337-339)gtC>gtT	p.V113V	RAD17_ENST00000380774.3_Silent_p.V113V|RAD17_ENST00000354312.3_Silent_p.V102V|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000361732.2_Silent_p.V102V|RAD17_ENST00000345306.6_Silent_p.V102V|RAD17_ENST00000354868.5_Silent_p.V102V|RAD17_ENST00000282891.6_Silent_p.V16V|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Silent_p.V102V|RAD17_ENST00000504177.1_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	113					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTGAAGAAGTCGAAACCTGGT	0.279								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(337-339)gtC>gtT	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							54.0	59.0	57.0					5																	68670493		2203	4296	6499	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68670493C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.339C>T	5.37:g.68670493C>T						RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.V113V|RAD17_ENST00000361732.2_Silent_p.V102V|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Silent_p.V102V|RAD17_ENST00000354868.5_Silent_p.V102V|RAD17_ENST00000354312.3_Silent_p.V102V|RAD17_ENST00000282891.6_Silent_p.V16V|RAD17_ENST00000305138.4_Silent_p.V102V	p.V113V			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	5	1017	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	113					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.339C>T	CCDS4003.1																																																																																				0.279	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		25	33	0	0	0	1	0	25	33				
SPRY4	81848	broad.mit.edu	37	5	141694197	141694197	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:141694197G>A	ENST00000434127.2	-	2	720	c.477C>T	c.(475-477)tgC>tgT	p.C159C	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.C182C	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	159	Cys-rich.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCCTCGCACAGCAAGA	0.642									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(544-546)tgC>tgT		sprouty homolog 4 (Drosophila)							60.0	64.0	62.0					5																	141694197		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694197G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.477C>T	5.37:g.141694197G>A						SPRY4_ENST00000434127.2_Silent_p.C159C	p.C182C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	732	-		all_hematologic(541;0.118)	159			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.546C>T	CCDS47296.1																																																																																				0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			11	41	0	0	0	1	0	11	41				
SPATA7	55812	broad.mit.edu	37	14	88895732	88895732	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88895732C>A	ENST00000393545.4	+	8	1242	c.953C>A	c.(952-954)gCt>gAt	p.A318D	SPATA7_ENST00000556553.1_Missense_Mutation_p.A286D|SPATA7_ENST00000356583.5_Missense_Mutation_p.A286D|SPATA7_ENST00000045347.7_Missense_Mutation_p.A318D	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	318					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GAAAAAATAGCTCCTTTACCT	0.348																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(856-858)gCt>gAt		spermatogenesis associated 7							102.0	100.0	101.0					14																	88895732		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88895732C>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.953C>A	14.37:g.88895732C>A	ENSP00000377176:p.Ala318Asp					SPATA7_ENST00000045347.7_Missense_Mutation_p.A318D|SPATA7_ENST00000356583.5_Missense_Mutation_p.A286D|SPATA7_ENST00000393545.4_Missense_Mutation_p.A318D	p.A286D			Q9P0W8	SPAT7_HUMAN			8	1416	+			318					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.857C>A	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846390	0.16963	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.33	-1.53	0.08611	.	1.113020	0.06567	N	0.747778	T	0.16685	0.0401	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26845	0.161;0.003;0.078	B;B;B	0.27380	0.079;0.006;0.054	T	0.38023	-0.9680	10	0.54805	T	0.06	0.2587	2.1918	0.03901	0.2319:0.2382:0.3774:0.1525	.	286;286;318	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	D	286;318;286;318	ENSP00000451128:A286D;ENSP00000377176:A318D;ENSP00000348991:A286D;ENSP00000045347:A318D	ENSP00000045347:A318D	A	+	2	0	SPATA7	87965485	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.178000	0.09782	-0.177000	0.10690	-0.143000	0.13931	GCT		0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			20	33	1	0	7.41877e-09	1	7.84611e-09	20	33				
KDM5B	10765	broad.mit.edu	37	1	202710525	202710525	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202710525T>C	ENST00000367265.3	-	19	4079	c.2915A>G	c.(2914-2916)gAc>gGc	p.D972G	KDM5B_ENST00000367264.2_Missense_Mutation_p.D1008G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	972					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGCTTTGTCGTCCCAGTGCTC	0.522																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2914-2916)gAc>gGc		lysine (K)-specific demethylase 5B							49.0	51.0	51.0					1																	202710525		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202710525T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2915A>G	1.37:g.202710525T>C	ENSP00000356234:p.Asp972Gly					KDM5B_ENST00000367264.2_Missense_Mutation_p.D1008G	p.D972G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			19	4079	-			972					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2915A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.982865	0.93044	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.44881	0.91;0.91;0.91	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.042740	0.85682	D	0.000000	T	0.47525	0.1450	L	0.36672	1.1	0.80722	D	1	P;P	0.52061	0.95;0.888	P;P	0.51701	0.555;0.677	T	0.48525	-0.9028	10	0.87932	D	0	-28.4875	16.4101	0.83708	0.0:0.0:0.0:1.0	.	1008;972	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	G	972;814;1008;814	ENSP00000356234:D972G;ENSP00000356233:D1008G;ENSP00000235790:D814G	ENSP00000235790:D814G	D	-	2	0	KDM5B	200977148	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.036000	0.88901	2.280000	0.76307	0.460000	0.39030	GAC		0.522	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		15	30	0	0	0	1	0	15	30				
AZGP1	563	broad.mit.edu	37	7	99565869	99565869	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99565869G>A	ENST00000292401.4	-	3	658	c.522C>T	c.(520-522)taC>taT	p.Y174Y	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Silent_p.Y171Y	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	174					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCGCTGCACGTAGACTGGTT	0.532																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(511-513)taC>taT		alpha-2-glycoprotein 1, zinc-binding							110.0	108.0	108.0					7																	99565869		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565869G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.522C>T	7.37:g.99565869G>A						AZGP1_ENST00000292401.4_Silent_p.Y174Y	p.Y171Y			P25311	ZA2G_HUMAN			3	518	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		174					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.513C>T	CCDS5680.1																																																																																				0.532	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		43	38	0	0	0	1	0	43	38				
PCDHGB6	56100	broad.mit.edu	37	5	140788076	140788076	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140788076G>A	ENST00000520790.1	+	1	307	c.307G>A	c.(307-309)Gag>Aag	p.E103K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	103	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)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGATGTGAGTTGCAATT	0.438																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(307-309)Gag>Aag									164.0	173.0	170.0					5																	140788076		1877	4106	5983	SO:0001583	missense	0							g.chr5:140788076G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.307G>A	5.37:g.140788076G>A	ENSP00000428603:p.Glu103Lys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.E103K	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	307	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.307G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966426	0.34659	.	.	ENSG00000253305	ENST00000520790	T	0.26957	1.7	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.30355	0.0762	M	0.63843	1.955	0.22446	N	0.999092	P;P	0.41188	0.741;0.696	B;B	0.42462	0.388;0.185	T	0.27434	-1.0074	9	0.51188	T	0.08	.	9.1294	0.36835	0.0:0.1278:0.6113:0.2609	.	103;103	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	K	103	ENSP00000428603:E103K	ENSP00000428603:E103K	E	+	1	0	PCDHGB6	140768260	0.000000	0.05858	0.998000	0.56505	0.509000	0.34042	0.126000	0.15769	2.517000	0.84864	0.467000	0.42956	GAG		0.438	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		23	57	0	0	0	1	0	23	57				
UGGT1	56886	broad.mit.edu	37	2	128910367	128910367	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128910367C>T	ENST00000259253.6	+	19	2073	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	UGGT1_ENST00000375990.3_Missense_Mutation_p.P652S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	676					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGTGAACTGCCCCATGATCA	0.368																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1954-1956)Ccc>Tcc		UDP-glucose glycoprotein glucosyltransferase 1							108.0	102.0	104.0					2																	128910367		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128910367C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2026C>T	2.37:g.128910367C>T	ENSP00000259253:p.Pro676Ser					UGGT1_ENST00000259253.6_Missense_Mutation_p.P676S	p.P652S			Q9NYU2	UGGG1_HUMAN			19	2357	+			676					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.1954C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	0.802	-0.754966	0.03041	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.26957	1.7;1.7	6.06	2.41	0.29592	.	0.327444	0.39210	N	0.001437	T	0.05135	0.0137	N	0.00583	-1.355	0.23528	N	0.99748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	9	.	.	.	.	2.2887	0.04133	0.1257:0.1367:0.1313:0.6063	.	652;676	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	S	652;676	ENSP00000365158:P652S;ENSP00000259253:P676S	.	P	+	1	0	UGGT1	128626837	1.000000	0.71417	0.710000	0.30468	0.386000	0.30323	1.058000	0.30504	0.175000	0.19841	-0.312000	0.09012	CCC		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		6	133	0	0	0	1	0	6	133				
MMACHC	25974	broad.mit.edu	37	1	45974469	45974469	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45974469G>A	ENST00000401061.4	+	4	711	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	144					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCCAGCGCATATCAGGT	0.572																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.e4-1		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	68.0	68.0					1																	45974469		2035	4198	6233	SO:0001630	splice_region_variant	25974						cobalamin binding	g.chr1:45974469G>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.430-1G>A	1.37:g.45974469G>A							p.R144_splice	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	711	+	Acute lymphoblastic leukemia(166;0.155)		144					Q5T157|Q9BRQ7	Splice_Site	SNP	ENST00000401061.4	37	c.429_splice	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955379	0.34471	.	.	ENSG00000132763	ENST00000401061	D	0.95377	-3.69	5.57	3.26	0.37387	.	0.134244	0.64402	N	0.000003	D	0.87951	0.6307	N	0.12182	0.205	0.26507	N	0.974674	B	0.02656	0.0	B	0.01281	0.0	T	0.75720	-0.3219	10	0.23891	T	0.37	-15.4408	9.623	0.39732	0.8564:0.0:0.1436:0.0	.	144	Q9Y4U1	MMAC_HUMAN	H	144	ENSP00000383840:R144H	ENSP00000383840:R144H	R	+	2	0	MMACHC	45747056	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.160000	0.58164	0.425000	0.26087	-0.487000	0.04747	CGC		0.572	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506	Missense_Mutation	3	13	0	0	0	1	0	3	13				
CELSR2	1952	broad.mit.edu	37	1	109793291	109793291	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109793291G>A	ENST00000271332.3	+	1	651	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	197	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCCAGCAGGCACCCCTGTT	0.622																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(589-591)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 2							86.0	82.0	83.0					1																	109793291		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793291G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.590G>A	1.37:g.109793291G>A	ENSP00000271332:p.Gly197Asp						p.G197D	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	651	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	197			Cadherin 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.590G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	15.07	2.724741	0.48833	.	.	ENSG00000143126	ENST00000271332	T	0.75050	-0.9	4.99	3.13	0.36017	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.82356	0.5019	M	0.86268	2.805	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.84560	0.0649	9	0.66056	D	0.02	.	11.8216	0.52242	0.1436:0.0:0.8564:0.0	.	197	Q9HCU4	CELR2_HUMAN	D	197	ENSP00000271332:G197D	ENSP00000271332:G197D	G	+	2	0	CELSR2	109594814	1.000000	0.71417	0.222000	0.23844	0.292000	0.27327	6.510000	0.73729	0.695000	0.31675	-0.355000	0.07637	GGC		0.622	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		12	24	0	0	0	1	0	12	24				
BRF2	55290	broad.mit.edu	37	8	37704638	37704638	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:37704638C>A	ENST00000220659.6	-	3	390	c.270G>T	c.(268-270)gaG>gaT	p.E90D	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.E90D	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCGCGGTATCCTCAAATGTTG	0.542																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(268-270)gaG>gaT		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							130.0	120.0	123.0					8																	37704638		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704638C>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.270G>T	8.37:g.37704638C>A	ENSP00000220659:p.Glu90Asp					BRF2_ENST00000520601.1_Missense_Mutation_p.E90D|BRF2_ENST00000521170.1_3'UTR	p.E90D	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	390	-		Lung NSC(58;0.118)|all_lung(54;0.195)	90					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.270G>T	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808271	0.70797	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.68	1.89	0.25635	Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.56769	1.78	0.80722	D	1	P	0.45176	0.852	B	0.41299	0.353	T	0.31475	-0.9942	9	0.12766	T	0.61	.	9.2508	0.37554	0.0:0.585:0.0:0.415	.	90	Q9HAW0	BRF2_HUMAN	D	90;67;90	.	ENSP00000220659:E90D	E	-	3	2	BRF2	37823796	0.987000	0.35691	0.999000	0.59377	0.974000	0.67602	0.437000	0.21543	0.355000	0.24131	0.555000	0.69702	GAG		0.542	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		27	57	1	0	2.24059e-21	1	2.48785e-21	27	57				
PAPLN	89932	broad.mit.edu	37	14	73726174	73726174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:73726174G>A	ENST00000554301.1	+	15	2069	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	PAPLN_ENST00000555445.1_Missense_Mutation_p.G636R|PAPLN_ENST00000427855.1_Missense_Mutation_p.G636R|PAPLN_ENST00000340738.5_Missense_Mutation_p.G609R|PAPLN_ENST00000381166.3_Missense_Mutation_p.G636R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	636						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAGTCCTCACGGGTGCTGCCC	0.697																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1906-1908)Ggg>Agg		papilin, proteoglycan-like sulfated glycoprotein							15.0	18.0	17.0					14																	73726174		2200	4294	6494	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726174G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1906G>A	14.37:g.73726174G>A	ENSP00000451803:p.Gly636Arg					PAPLN_ENST00000381166.3_Missense_Mutation_p.G636R|PAPLN_ENST00000555445.1_Missense_Mutation_p.G636R|PAPLN_ENST00000554301.1_Missense_Mutation_p.G636R|PAPLN_ENST00000340738.5_Missense_Mutation_p.G609R	p.G636R			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	16	2008	+			636					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1906G>A		.	.	.	.	.	.	.	.	.	.	G	19.40	3.820756	0.71028	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.74002	-0.8;-0.78;-0.38;-0.78;-0.41	4.45	4.45	0.53987	.	.	.	.	.	D	0.86096	0.5851	M	0.81614	2.55	0.48135	D	0.999597	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88020	0.2768	9	0.66056	D	0.02	.	15.0406	0.71788	0.0:0.0:1.0:0.0	.	636;636;609	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	609;636;636;636;636	ENSP00000345395:G609R;ENSP00000403403:G636R;ENSP00000370558:G636R;ENSP00000451803:G636R;ENSP00000451729:G636R	ENSP00000216658:G636R	G	+	1	0	PAPLN	72795927	1.000000	0.71417	0.955000	0.39395	0.393000	0.30537	6.044000	0.71012	2.304000	0.77564	0.462000	0.41574	GGG		0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		5	5	0	0	0	1	0	5	5				
EPHB6	2051	broad.mit.edu	37	7	142562420	142562420	+	Missense_Mutation	SNP	G	G	A	rs201782375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562420G>A	ENST00000392957.2	+	7	1649	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G288R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	288	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCACTGCAACGGGGAGGGCAA	0.667																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(862-864)Ggg>Agg		EPH receptor B6		G	ARG/GLY	2,4302		0,2,2150	37.0	45.0	42.0		862	5.0	0.8	7		42	3,8449		0,3,4223	yes	missense	EPHB6	NM_004445.3	125	0,5,6373	AA,AG,GG		0.0355,0.0465,0.0392	probably-damaging	288/1022	142562420	5,12751	2152	4226	6378	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562420G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.862G>A	7.37:g.142562420G>A	ENSP00000376684:p.Gly288Arg					EPHB6_ENST00000442129.1_Missense_Mutation_p.G288R|EPHB6_ENST00000411471.2_Intron	p.G288R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1649	+	Melanoma(164;0.059)		288			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.862G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257209	0.80246	4.65E-4	3.55E-4	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.70749	-0.51;-0.51	5.04	5.04	0.67666	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.134612	0.34200	N	0.004170	D	0.82314	0.5010	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.84068	0.0378	10	0.87932	D	0	.	17.5428	0.87853	0.0:0.0:1.0:0.0	.	288	O15197	EPHB6_HUMAN	R	288	ENSP00000376684:G288R;ENSP00000410789:G288R	ENSP00000376684:G288R	G	+	1	0	EPHB6	142272542	1.000000	0.71417	0.814000	0.32528	0.616000	0.37450	7.856000	0.86956	2.606000	0.88127	0.561000	0.74099	GGG		0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			34	39	0	0	0	1	0	34	39				
NKAP	79576	broad.mit.edu	37	X	119064005	119064005	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:119064005G>A	ENST00000371410.3	-	8	1213	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	349	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CATAACCTGAGCATTCAAATG	0.368																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(1045-1047)tgC>tgT		NFKB activating protein							179.0	157.0	164.0					X																	119064005		2203	4300	6503	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119064005G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1047C>T	X.37:g.119064005G>A						NKAP_ENST00000477789.1_5'UTR	p.C349C	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			8	1213	-			349			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.1047C>T	CCDS14592.1																																																																																				0.368	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		33	5	0	0	0	1	0	33	5				
C3orf36	80111	broad.mit.edu	37	3	133647492	133647492	+	Silent	SNP	C	C	T	rs546128056		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:133647492C>T	ENST00000408895.2	-	1	1164	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	52										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						CCTTCCTGAGCGTGGTTGGTG	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18519	0.0		0.0	False		,,,				2504	0.0					ENST00000408895.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(154-156)acG>acA		chromosome 3 open reading frame 36							40.0	42.0	41.0					3																	133647492		2203	4300	6503	SO:0001819	synonymous_variant	80111							g.chr3:133647492C>T	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.156G>A	3.37:g.133647492C>T							p.T52T	NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN			1	1164	-			52					Q3SXR3|Q9H6K8	Silent	SNP	ENST00000408895.2	37	c.156G>A	CCDS3083.1																																																																																				0.642	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		9	7	0	0	0	1	0	9	7				
PLEKHM2	23207	broad.mit.edu	37	1	16053821	16053821	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16053821C>T	ENST00000375799.3	+	9	1481	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	PLEKHM2_ENST00000375793.2_Silent_p.N398N|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	418					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCAGCTCAACGGGCAGCTGG	0.682																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1252-1254)aaC>aaT		pleckstrin homology domain containing, family M (with RUN domain) member 2							9.0	11.0	10.0					1																	16053821		1914	4092	6006	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053821C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1254C>T	1.37:g.16053821C>T						PLEKHM2_ENST00000375793.2_Silent_p.N398N|RP11-288I21.1_ENST00000453804.1_RNA	p.N418N	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1481	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	418					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.1254C>T	CCDS44063.1																																																																																				0.682	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		5	3	0	0	0	1	0	5	3				
ESPL1	9700	broad.mit.edu	37	12	53683373	53683373	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53683373C>T	ENST00000257934.4	+	22	5199	c.5108C>T	c.(5107-5109)cCc>cTc	p.P1703L	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1703L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1703					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTGATCCCCAGTGGTATG	0.567																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5107-5109)cCc>cTc		extra spindle pole bodies homolog 1 (S. cerevisiae)							32.0	35.0	34.0					12																	53683373		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53683373C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5108C>T	12.37:g.53683373C>T	ENSP00000257934:p.Pro1703Leu					ESPL1_ENST00000552462.1_Missense_Mutation_p.P1703L	p.P1703L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			22	5199	+			1703						Missense_Mutation	SNP	ENST00000257934.4	37	c.5108C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123840	0.56613	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.58797	0.31;0.31	5.26	5.26	0.73747	.	0.055414	0.64402	D	0.000001	T	0.67192	0.2867	L	0.36672	1.1	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.69135	-0.5225	10	0.87932	D	0	.	14.2504	0.66016	0.0:1.0:0.0:0.0	.	1703	Q14674	ESPL1_HUMAN	L	1703;1378;1703	ENSP00000257934:P1703L;ENSP00000449831:P1703L	ENSP00000257934:P1703L	P	+	2	0	ESPL1	51969640	0.994000	0.37717	0.998000	0.56505	0.124000	0.20399	4.718000	0.61930	2.735000	0.93741	0.563000	0.77884	CCC		0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		19	33	0	0	0	1	0	19	33				
UNC5CL	222643	broad.mit.edu	37	6	41001660	41001660	+	Missense_Mutation	SNP	C	C	T	rs141624251	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:41001660C>T	ENST00000373164.1	-	2	706	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.A216T			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	216	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCCGGGAGGCGTGGGCCCCC	0.632													C|||	23	0.00459265	0.0174	0.0	5008	,	,		15823	0.0		0.0	False		,,,				2504	0.0					ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(646-648)Gcc>Acc		unc-5 homolog C (C. elegans)-like		C	THR/ALA	54,4352		1,52,2150	29.0	30.0	30.0		646	2.4	0.3	6	dbSNP_134	30	0,8600		0,0,4300	yes	missense	UNC5CL	NM_173561.2	58	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	216/519	41001660	54,12952	2203	4300	6503	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41001660C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.646G>A	6.37:g.41001660C>T	ENSP00000362258:p.Ala216Thr					UNC5CL_ENST00000373164.1_Missense_Mutation_p.A216T	p.A216T	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			3	734	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		216			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.646G>A	CCDS4847.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	0.098	-1.156907	0.01686	0.012256	0.0	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.12984	2.63;2.63	4.78	2.37	0.29283	.	0.551391	0.16496	N	0.211875	T	0.00936	0.0031	N	0.02539	-0.55	0.23704	N	0.997064	B	0.02656	0.0	B	0.01281	0.0	T	0.48175	-0.9058	10	0.02654	T	1	-6.8907	6.2752	0.20977	0.0:0.1898:0.0:0.8102	.	216	Q8IV45	UN5CL_HUMAN	T	216	ENSP00000244565:A216T;ENSP00000362258:A216T	ENSP00000244565:A216T	A	-	1	0	UNC5CL	41109638	0.933000	0.31639	0.326000	0.25389	0.165000	0.22458	1.674000	0.37544	0.330000	0.23485	-0.768000	0.03414	GCC		0.632	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		11	14	0	0	0	1	0	11	14				
EMX2	2018	broad.mit.edu	37	10	119305250	119305250	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:119305250G>A	ENST00000553456.3	+	2	1338	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	172					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GCTGGAACACGCCTTTGAGAA	0.622																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(514-516)Gcc>Acc		empty spiracles homeobox 2							55.0	49.0	51.0					10																	119305250		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305250G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.514G>A	10.37:g.119305250G>A	ENSP00000450962:p.Ala172Thr					EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	p.A172T	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1338	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	172					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.514G>A	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.348716	0.97494	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	N	0.17838	0.53	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	T	0.59815	-0.7383	9	0.39692	T	0.17	-12.29	20.2806	0.98513	0.0:0.0:1.0:0.0	.	172	Q04743	EMX2_HUMAN	T	172	.	ENSP00000358202:A172T	A	+	1	0	EMX2	119295240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GCC		0.622	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		14	20	0	0	0	1	0	14	20				
CASZ1	54897	broad.mit.edu	37	1	10714603	10714603	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:10714603G>A	ENST00000377022.3	-	10	2028	c.1711C>T	c.(1711-1713)Cac>Tac	p.H571Y	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.H571Y	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	571					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGTTCTCGTGGGTCATCACG	0.597																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1711-1713)Cac>Tac		castor zinc finger 1							254.0	230.0	238.0					1																	10714603		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714603G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1711C>T	1.37:g.10714603G>A	ENSP00000366221:p.His571Tyr					CASZ1_ENST00000344008.5_Missense_Mutation_p.H571Y	p.H571Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2028	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	571					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1711C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850663	0.91277	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.64404	1.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.976	D;D;D	0.91635	0.999;0.997;0.98	T	0.80367	-0.1412	9	0.87932	D	0	-18.3993	18.6257	0.91336	0.0:0.0:1.0:0.0	.	595;571;571	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Y	571	.	ENSP00000339445:H571Y	H	-	1	0	CASZ1	10637190	1.000000	0.71417	0.972000	0.41901	0.613000	0.37349	7.561000	0.82288	2.478000	0.83669	0.561000	0.74099	CAC		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		28	83	0	0	0	1	0	28	83				
USP5	8078	broad.mit.edu	37	12	6967709	6967709	+	Missense_Mutation	SNP	G	G	A	rs202049140		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6967709G>A	ENST00000229268.8	+	8	1038	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	USP5_ENST00000389231.5_Missense_Mutation_p.R329Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	329	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACAGGCATCCGGAACCTGGGT	0.567																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(985-987)cGg>cAg		ubiquitin specific peptidase 5 (isopeptidase T)							111.0	88.0	95.0					12																	6967709		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6967709G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.986G>A	12.37:g.6967709G>A	ENSP00000229268:p.Arg329Gln					USP5_ENST00000389231.5_Missense_Mutation_p.R329Q	p.R329Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			8	1038	+			329					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.986G>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096499	0.20552	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30714	1.52;1.52	5.65	1.84	0.25277	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.408044	0.29424	N	0.012200	T	0.17492	0.0420	N	0.21617	0.685	0.33596	D	0.601718	B;B	0.30584	0.104;0.286	B;B	0.21917	0.037;0.024	T	0.19516	-1.0303	10	0.27082	T	0.32	-0.1116	11.2907	0.49247	0.3163:0.0:0.6837:0.0	.	329;329	P45974;P45974-2	UBP5_HUMAN;.	Q	329	ENSP00000229268:R329Q;ENSP00000373883:R329Q	ENSP00000229268:R329Q	R	+	2	0	USP5	6837970	1.000000	0.71417	0.993000	0.49108	0.208000	0.24298	1.419000	0.34793	-0.011000	0.14247	-0.797000	0.03246	CGG		0.567	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			8	15	0	0	0	1	0	8	15				
MEN1	4221	broad.mit.edu	37	11	64572519	64572519	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64572519C>T	ENST00000337652.1	-	9	1855	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H	MEN1_ENST00000315422.4_Missense_Mutation_p.R446H|MEN1_ENST00000377316.2_Intron|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394376.1_Missense_Mutation_p.R451H|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000443283.1_Missense_Mutation_p.R451H|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.R451H|MEN1_ENST00000377321.1_Missense_Mutation_p.R411H|MEN1_ENST00000377313.1_Missense_Mutation_p.R451H|MEN1_ENST00000377326.3_Missense_Mutation_p.R446H|MEN1_ENST00000312049.6_Missense_Mutation_p.R446H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	451					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TCCCTCAAAACGGCCTAGGGA	0.612			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1351-1353)cGt>cAt		multiple endocrine neoplasia I							77.0	68.0	71.0					11																	64572519		2201	4297	6498	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572519C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1352G>A	11.37:g.64572519C>T	ENSP00000337088:p.Arg451His					MEN1_ENST00000394374.2_Missense_Mutation_p.R451H|MEN1_ENST00000443283.1_Missense_Mutation_p.R451H|MEN1_ENST00000394376.1_Missense_Mutation_p.R451H|MEN1_ENST00000377326.3_Missense_Mutation_p.R446H|MEN1_ENST00000377313.1_Missense_Mutation_p.R451H|MEN1_ENST00000377321.1_Missense_Mutation_p.R411H|MEN1_ENST00000315422.4_Missense_Mutation_p.R446H|MEN1_ENST00000312049.6_Missense_Mutation_p.R446H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Intron	p.R451H	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			9	1855	-			451					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1352G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666682	0.88251	.	.	ENSG00000133895	ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01;-6.01	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	L	0.47716	1.5	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;D;D	0.78314	0.902;0.991;0.941	D	0.98696	1.0698	10	0.87932	D	0	-11.4141	14.0916	0.64995	0.0:1.0:0.0:0.0	.	446;411;451	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	411;446;446;446;451;451;451;451;451	ENSP00000366538:R411H;ENSP00000366543:R446H;ENSP00000308975:R446H;ENSP00000323747:R446H;ENSP00000337088:R451H;ENSP00000377901:R451H;ENSP00000377899:R451H;ENSP00000396940:R451H;ENSP00000366530:R451H	ENSP00000308975:R446H	R	-	2	0	MEN1	64329095	1.000000	0.71417	0.961000	0.40146	0.805000	0.45488	6.726000	0.74758	2.257000	0.74773	0.456000	0.33151	CGT		0.612	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			10	31	0	0	0	1	0	10	31				
FEM1C	56929	broad.mit.edu	37	5	114879005	114879005	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:114879005C>T	ENST00000274457.3	-	2	747	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	62					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CACTGCATTGCTCTAGGAGGA	0.542																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(184-186)gaG>gaA		fem-1 homolog c (C. elegans)							48.0	49.0	49.0					5																	114879005		2202	4300	6502	SO:0001819	synonymous_variant	56929					cytoplasm		g.chr5:114879005C>T		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.186G>A	5.37:g.114879005C>T							p.E62E	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	747	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	62					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Silent	SNP	ENST00000274457.3	37	c.186G>A	CCDS4118.1																																																																																				0.542	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		4	18	0	0	0	1	0	4	18				
MALAT1	378938	broad.mit.edu	37	11	65269670	65269670	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65269670G>A	ENST00000534336.1	+	0	4438					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGTTGGTCTGGCCTACTGGGC	0.373																																						ENST00000534336.1																			0																				55.0	55.0	55.0					11																	65269670		874	1988	2862			0							g.chr11:65269670G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269670G>A								NR_002819.2						0	4438	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.373	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	19	0	0	0	1	0	10	19				
ZNFX1	57169	broad.mit.edu	37	20	47881294	47881294	+	Missense_Mutation	SNP	G	G	A	rs201534130		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47881294G>A	ENST00000396105.1	-	5	2356	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R704C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R704C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	704							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGTTGCGGCGGAATTCCCGC	0.527																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2110-2112)Cgc>Tgc		zinc finger, NFX1-type containing 1							171.0	149.0	156.0					20																	47881294		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47881294G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2110C>T	20.37:g.47881294G>A	ENSP00000379412:p.Arg704Cys					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R704C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R704C	p.R704C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	2356	-			704					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2110C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270249	0.80469	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;T	0.86030	-2.06;-1.58;-1.58;1.91;1.91	5.83	5.83	0.93111	.	0.166726	0.52532	D	0.000076	D	0.91606	0.7348	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.91382	0.5128	10	0.56958	D	0.05	-25.8262	18.6976	0.91607	0.0:0.0:1.0:0.0	.	704	Q9P2E3	ZNFX1_HUMAN	C	704;704;704;704;704;508	ENSP00000360819:R704C;ENSP00000360817:R704C;ENSP00000379412:R704C;ENSP00000360809:R704C;ENSP00000413800:R508C	ENSP00000360809:R704C	R	-	1	0	ZNFX1	47314701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.176000	0.50863	2.770000	0.95276	0.655000	0.94253	CGC		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		36	57	0	0	0	1	0	36	57				
HPDL	84842	broad.mit.edu	37	1	45792871	45792871	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45792871C>T	ENST00000334815.3	+	1	327	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	17					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					ACGTGCCCGCCGGGCAGCCCC	0.706																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(49-51)gcC>gcT		4-hydroxyphenylpyruvate dioxygenase-like							18.0	22.0	20.0					1																	45792871		2187	4267	6454	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45792871C>T	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.51C>T	1.37:g.45792871C>T							p.A17A	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	327	+	Acute lymphoblastic leukemia(166;0.155)		17					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.51C>T	CCDS519.1																																																																																				0.706	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		3	22	0	0	0	1	0	3	22				
NRAP	4892	broad.mit.edu	37	10	115391684	115391684	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115391684C>T	ENST00000359988.3	-	17	1916	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	NRAP_ENST00000360478.3_Missense_Mutation_p.G523R|NRAP_ENST00000369358.4_Missense_Mutation_p.G558R|NRAP_ENST00000369360.3_Missense_Mutation_p.G523R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTCAAATCCTTTCCCCTTT	0.463																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1672-1674)Gga>Aga		nebulin-related anchoring protein							156.0	141.0	146.0					10																	115391684		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391684C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1672G>A	10.37:g.115391684C>T	ENSP00000353078:p.Gly558Arg					NRAP_ENST00000360478.3_Missense_Mutation_p.G523R|NRAP_ENST00000359988.3_Missense_Mutation_p.G558R|NRAP_ENST00000369360.3_Missense_Mutation_p.G523R	p.G558R			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1916	-		Colorectal(252;0.0233)|Breast(234;0.188)	558						Missense_Mutation	SNP	ENST00000359988.3	37	c.1672G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347677	0.82022	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.19250	2.45;2.43;2.24;2.16	5.52	5.52	0.82312	.	0.056164	0.64402	D	0.000001	T	0.48223	0.1488	M	0.71036	2.16	0.41736	D	0.989586	D;D;D	0.71674	0.998;0.997;0.996	D;D;D	0.71656	0.974;0.962;0.924	T	0.47045	-0.9147	10	0.66056	D	0.02	.	19.5136	0.95154	0.0:1.0:0.0:0.0	.	558;523;558	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	558;523;558;523;287;287	ENSP00000358365:G558R;ENSP00000358367:G523R;ENSP00000353078:G558R;ENSP00000353666:G523R	ENSP00000353078:G558R	G	-	1	0	NRAP	115381674	0.684000	0.27642	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.609000	0.88269	0.580000	0.79431	GGA		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		23	31	0	0	0	1	0	23	31				
PKN2	5586	broad.mit.edu	37	1	89250336	89250336	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89250336C>T	ENST00000370521.3	+	7	1359	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PKN2_ENST00000370513.5_Missense_Mutation_p.R334C|PKN2_ENST00000544045.1_Missense_Mutation_p.R8C|PKN2_ENST00000370505.3_Missense_Mutation_p.R177C|PKN2_ENST00000316005.7_Missense_Mutation_p.R334C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	334	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTGGAAGTTCGTCTTATGGG	0.398																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1000-1002)Cgt>Tgt		protein kinase N2							70.0	66.0	67.0					1																	89250336		1879	4110	5989	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89250336C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1000C>T	1.37:g.89250336C>T	ENSP00000359552:p.Arg334Cys					PKN2_ENST00000544045.1_Missense_Mutation_p.R8C|PKN2_ENST00000316005.7_Missense_Mutation_p.R334C|PKN2_ENST00000370505.3_Missense_Mutation_p.R177C|PKN2_ENST00000370513.5_Missense_Mutation_p.R334C	p.R334C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	7	1359	+		Lung NSC(277;0.123)	334			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1000C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627267	0.66901	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.57	5.57	0.84162	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42172	U	0.000741	T	0.42245	0.1194	M	0.82823	2.61	0.80722	D	1	P;P;D;D	0.89917	0.805;0.688;1.0;1.0	B;B;D;D	0.83275	0.11;0.11;0.996;0.981	T	0.31861	-0.9928	10	0.54805	T	0.06	.	14.6436	0.68742	0.1796:0.8204:0.0:0.0	.	334;334;334;334	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	C	334;334;177;334;8	ENSP00000359552:R334C;ENSP00000317851:R334C;ENSP00000359536:R177C;ENSP00000359544:R334C;ENSP00000439643:R8C	ENSP00000317851:R334C	R	+	1	0	PKN2	89022924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	2.785000	0.95823	0.591000	0.81541	CGT		0.398	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		25	30	0	0	0	1	0	25	30				
CDK18	5129	broad.mit.edu	37	1	205495959	205495959	+	Silent	SNP	C	C	T	rs200375022		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205495959C>T	ENST00000360066.2	+	8	1024	c.723C>T	c.(721-723)aaC>aaT	p.N241N	CDK18_ENST00000429964.2_Silent_p.N241N|CDK18_ENST00000506784.1_Silent_p.N271N|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCATGCACAACGTCAAGGTGA	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20036	0.0		0.0	False		,,,				2504	0.0				Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(721-723)aaC>aaT		cyclin-dependent kinase 18		C	,,	0,4406		0,0,2203	147.0	125.0	133.0		723,723,813	-9.2	0.8	1		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDK18	NM_002596.3,NM_212502.2,NM_212503.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	241/475,241/475,271/505	205495959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495959C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.723C>T	1.37:g.205495959C>T						CDK18_ENST00000506784.1_Silent_p.N271N|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.N241N	p.N241N	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			8	1024	+			239			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.723C>T	CCDS44300.1																																																																																				0.627	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		27	55	0	0	0	1	0	27	55				
OR2B2	81697	broad.mit.edu	37	6	27879581	27879581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27879581C>A	ENST00000303324.2	-	1	593	c.517G>T	c.(517-519)Gaa>Taa	p.E173*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATCCACTTCTTTGTGACCA	0.463																																						ENST00000303324.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(517-519)Gaa>Taa		olfactory receptor, family 2, subfamily B, member 2							93.0	87.0	89.0					6																	27879581		2203	4300	6503	SO:0001587	stop_gained	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879581C>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.517G>T	6.37:g.27879581C>A	ENSP00000304419:p.Glu173*						p.E173*	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	593	-			173					B2RNH2|Q9GZL2|Q9Y299	Nonsense_Mutation	SNP	ENST00000303324.2	37	c.517G>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593458	0.28357	.	.	ENSG00000168131	ENST00000303324	.	.	.	4.42	3.55	0.40652	.	0.382381	0.18800	U	0.130817	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	6.7534	0.23499	0.0:0.7185:0.1804:0.101	.	.	.	.	X	173	.	ENSP00000304419:E173X	E	-	1	0	OR2B2	27987560	0.000000	0.05858	0.472000	0.27241	0.017000	0.09413	-0.924000	0.03996	1.143000	0.42306	0.563000	0.77884	GAA		0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			35	30	1	0	3.76114e-14	1	4.09844e-14	35	30				
MED13L	23389	broad.mit.edu	37	12	116404036	116404036	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116404036G>A	ENST00000281928.3	-	29	6444	c.6238C>T	c.(6238-6240)Cgt>Tgt	p.R2080C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2080						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAAAGAAGACGCTCACCCTGG	0.443																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(6238-6240)Cgt>Tgt		mediator complex subunit 13-like							69.0	71.0	71.0					12																	116404036		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116404036G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6238C>T	12.37:g.116404036G>A	ENSP00000281928:p.Arg2080Cys						p.R2080C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	29	6444	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2080					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.6238C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525032	0.85600	.	.	ENSG00000123066	ENST00000281928	D	0.83335	-1.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90758	0.4662	10	0.59425	D	0.04	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	2080	Q71F56	MD13L_HUMAN	C	2080	ENSP00000281928:R2080C	ENSP00000281928:R2080C	R	-	1	0	MED13L	114888419	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT		0.443	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			31	41	0	0	0	1	0	31	41				
FAT4	79633	broad.mit.edu	37	4	126373279	126373279	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126373279G>A	ENST00000394329.3	+	9	11121	c.11108G>A	c.(11107-11109)gGa>gAa	p.G3703E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2001E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3703					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTTTGCTGGATTTTCCAAT	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11107-11109)gGa>gAa		FAT atypical cadherin 4							174.0	164.0	167.0					4																	126373279		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373279G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11108G>A	4.37:g.126373279G>A	ENSP00000377862:p.Gly3703Glu					FAT4_ENST00000335110.5_Missense_Mutation_p.G2001E	p.G3703E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11121	+			3703					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11108G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135633	0.21123	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61158	0.13;0.13	5.77	3.91	0.45181	.	0.000000	0.33938	U	0.004406	T	0.49898	0.1584	N	0.19112	0.55	0.53688	D	0.999974	D;D;D	0.59767	0.985;0.986;0.985	P;P;P	0.54270	0.747;0.726;0.747	T	0.46721	-0.9171	10	0.02654	T	1	.	15.8584	0.79005	0.0:0.2561:0.7439:0.0	.	2001;3703;3703	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	E	3703;2001	ENSP00000377862:G3703E;ENSP00000335169:G2001E	ENSP00000335169:G2001E	G	+	2	0	FAT4	126592729	1.000000	0.71417	0.214000	0.23707	0.976000	0.68499	5.376000	0.66178	1.400000	0.46741	0.561000	0.74099	GGA		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	93	0	0	0	1	0	4	93				
SZT2	23334	broad.mit.edu	37	1	43906960	43906960	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43906960C>T	ENST00000562955.1	+	52	7249	c.7249C>T	c.(7249-7251)Cgg>Tgg	p.R2417W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1575W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2474					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAAGACACTCGGGGCCGGAG	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7249-7251)Cgg>Tgg		seizure threshold 2 homolog (mouse)							80.0	89.0	86.0					1																	43906960		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906960C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7249C>T	1.37:g.43906960C>T	ENSP00000457168:p.Arg2417Trp					SZT2_ENST00000372442.1_Missense_Mutation_p.R1575W	p.R2417W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			52	7249	+			2474					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7249C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739964	0.69304	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	3.4	0.38934	.	0.273368	0.35207	N	0.003371	T	0.57330	0.2046	L	0.36672	1.1	0.28447	N	0.916535	D	0.89917	1.0	D	0.71414	0.973	T	0.56396	-0.7986	9	0.62326	D	0.03	.	14.9614	0.71158	0.258:0.7419:0.0:0.0	.	2417	Q5T011-5	.	W	1575	.	ENSP00000361519:R1575W	R	+	1	2	SZT2	43679547	0.999000	0.42202	0.995000	0.50966	0.967000	0.64934	1.519000	0.35888	1.401000	0.46761	0.591000	0.81541	CGG		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		10	79	0	0	0	1	0	10	79				
RAB4B	53916	broad.mit.edu	37	19	41292855	41292855	+	Missense_Mutation	SNP	C	C	T	rs372611375		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41292855C>T	ENST00000594800.1	+	7	789	c.629C>T	c.(628-630)cCg>cTg	p.P210L	RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.P210L|RAB4B_ENST00000357052.2_Missense_Mutation_p.P210L			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	210					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCCCTCAGCCGTGTGGCTGC	0.667																																						ENST00000594136.1																			0											c.(628-630)cCg>cTg					LEU/PRO	0,4404		0,0,2202	25.0	26.0	26.0		629	1.1	1.0	19		26	2,8590		0,2,4294	no	missense	RAB4B	NM_016154.4	98	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	210/214	41292855	2,12994	2202	4296	6498	SO:0001583	missense	0							g.chr19:41292855C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.629C>T	19.37:g.41292855C>T	ENSP00000470246:p.Pro210Leu					RAB4B_ENST00000594800.1_Missense_Mutation_p.P210L|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.P210L	p.P210L							7	734	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.629C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	9.814	1.183977	0.21870	0.0	2.33E-4	ENSG00000167578	ENST00000357052	T	0.61627	0.09	4.77	1.15	0.20763	.	0.069626	0.64402	D	0.000014	T	0.31451	0.0797	N	0.08118	0	0.80722	D	1	P;B	0.34864	0.473;0.029	B;B	0.29524	0.103;0.018	T	0.11299	-1.0593	10	0.33940	T	0.23	.	11.8841	0.52592	0.6585:0.3415:0.0:0.0	.	245;210	P61018-2;P61018	.;RAB4B_HUMAN	L	210	ENSP00000349560:P210L	ENSP00000349560:P210L	P	+	2	0	RAB4B	45984695	0.937000	0.31787	0.985000	0.45067	0.005000	0.04900	1.754000	0.38369	0.588000	0.29660	-0.455000	0.05494	CCG		0.667	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		5	10	0	0	0	1	0	5	10				
RANBP2	5903	broad.mit.edu	37	2	109371409	109371409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:109371409C>T	ENST00000283195.6	+	16	2377	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	751					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCAGTCATGCAGGAACTCGA	0.373																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2251-2253)Cag>Tag		RAN binding protein 2							90.0	95.0	93.0					2																	109371409		2198	4281	6479	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371409C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2251C>T	2.37:g.109371409C>T	ENSP00000283195:p.Gln751*						p.Q751*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2377	+			751					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.2251C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	c	40	8.012414	0.98610	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.7485	19.986	0.97351	0.0:1.0:0.0:0.0	.	.	.	.	X	751	.	ENSP00000283195:Q751X	Q	+	1	0	RANBP2	108737841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.733000	0.55029	2.716000	0.92895	0.542000	0.68232	CAG		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		87	147	0	0	0	1	0	87	147				
MLLT4	4301	broad.mit.edu	37	6	168316027	168316027	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:168316027C>T	ENST00000447894.2	+	18	2458	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	MLLT4_ENST00000400822.3_Missense_Mutation_p.R819C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R820C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R820C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R820C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R804C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R827C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	820	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGCGATTATCCGTCAGCAGTT	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2458-2460)Cgt>Tgt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							88.0	75.0	79.0					6																	168316027		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168316027C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2458C>T	6.37:g.168316027C>T	ENSP00000404595:p.Arg820Cys					MLLT4_ENST00000344191.4_Missense_Mutation_p.R820C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R827C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R804C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R820C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R820C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R819C	p.R820C			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2600	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	820			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.2458C>T		.	.	.	.	.	.	.	.	.	.	C	17.23	3.335702	0.60853	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.06371	3.5;3.39;3.51;3.52;3.31;3.41;3.42	5.9	5.9	0.94986	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.999;0.967;0.978	T	0.00655	-1.1624	10	0.40728	T	0.16	-0.8062	20.2789	0.98501	0.0:1.0:0.0:0.0	.	820;819;820;804	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	820;827;820;820;804;820;819;820	ENSP00000341118:R820C;ENSP00000252692:R827C;ENSP00000375956:R820C;ENSP00000355771:R820C;ENSP00000375960:R804C;ENSP00000383623:R819C;ENSP00000404595:R820C	ENSP00000345834:R820C	R	+	1	0	MLLT4	168058876	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	5.847000	0.69451	2.788000	0.95919	0.650000	0.86243	CGT		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		12	16	0	0	0	1	0	12	16				
PTPN21	11099	broad.mit.edu	37	14	88946188	88946188	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88946188C>T	ENST00000556564.1	-	13	1871	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	PTPN21_ENST00000328736.3_Silent_p.E529E	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	529					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGGCCGCCGCTCGGCAGGGT	0.697																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1585-1587)gaG>gaA		protein tyrosine phosphatase, non-receptor type 21							26.0	35.0	32.0					14																	88946188		2192	4280	6472	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946188C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1587G>A	14.37:g.88946188C>T						PTPN21_ENST00000328736.3_Silent_p.E529E	p.E529E	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1871	-			529						Silent	SNP	ENST00000556564.1	37	c.1587G>A	CCDS9884.1																																																																																				0.697	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	38	0	0	0	1	0	8	38				
ZC3H12D	340152	broad.mit.edu	37	6	149773850	149773850	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:149773850G>A	ENST00000409806.3	-	5	1007	c.689C>T	c.(688-690)cCg>cTg	p.P230L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P230L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P230L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.P230L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	230					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GTCATCAGGCGGCATGAACCT	0.587																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(688-690)cCg>cTg		zinc finger CCCH-type containing 12D							26.0	31.0	29.0					6																	149773850		1948	4127	6075	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773850G>A			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.689C>T	6.37:g.149773850G>A	ENSP00000386616:p.Pro230Leu					ZC3H12D_ENST00000416573.2_Missense_Mutation_p.P230L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.P230L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.P230L	p.P230L			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	936	-		Ovarian(120;0.0907)	230					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.689C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895427	0.91962	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.6	4.6	0.57074	Ribonuclease Zc3h12a-like (1);	0.065391	0.64402	D	0.000008	T	0.59715	0.2214	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65681	-0.6109	10	0.87932	D	0	-13.756	17.6256	0.88093	0.0:0.0:1.0:0.0	.	230;230	A2A288;B7WNU7	ZC12D_HUMAN;.	L	230	ENSP00000374592:P230L;ENSP00000408686:P230L;ENSP00000386616:P230L;ENSP00000440813:P230L	ENSP00000374592:P230L	P	-	2	0	ZC3H12D	149815543	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.268000	0.78473	2.395000	0.81488	0.561000	0.74099	CCG		0.587	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	3	0	0	0	1	0	4	3				
AMOT	154796	broad.mit.edu	37	X	112034009	112034009	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:112034009C>T	ENST00000524145.1	-	8	2002	c.1928G>A	c.(1927-1929)cGt>cAt	p.R643H	AMOT_ENST00000304758.1_Splice_Site_p.R234H|AMOT_ENST00000371959.3_Splice_Site_p.R643H|AMOT_ENST00000371962.1_Splice_Site_p.R411H|AMOT_ENST00000371958.1_Splice_Site_p.R411H			Q4VCS5	AMOT_HUMAN	angiomotin	643					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.R643H(1)|p.R234H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTTGCCCTGACGCTGTTGGGG	0.527																																						ENST00000371959.3																			2	Substitution - Missense(2)	p.R643H(1)|p.R234H(1)	large_intestine(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.e7-1		angiomotin							88.0	77.0	81.0					X																	112034009		2203	4300	6503	SO:0001630	splice_region_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112034009C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1927-1G>A	X.37:g.112034009C>T						AMOT_ENST00000371962.1_Splice_Site_p.R411_splice|AMOT_ENST00000524145.1_Splice_Site_p.R643_splice|AMOT_ENST00000371958.1_Splice_Site_p.R411_splice|AMOT_ENST00000304758.1_Splice_Site_p.R234_splice	p.R643_splice	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			7	1927	-			643					Q504X5|Q9HD27|Q9UPT1	Splice_Site	SNP	ENST00000524145.1	37	c.1926_splice	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074599	0.76415	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.41400	1.0;2.02;2.28;2.02;1.73	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65508	-0.6151	10	0.52906	T	0.07	-10.6765	18.3623	0.90379	0.0:1.0:0.0:0.0	.	643	Q4VCS5	AMOT_HUMAN	H	234;643;411;643;411	ENSP00000305557:R234H;ENSP00000361027:R643H;ENSP00000361030:R411H;ENSP00000429013:R643H;ENSP00000361026:R411H	ENSP00000305557:R234H	R	-	2	0	AMOT	111920665	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.607000	0.82883	2.562000	0.86427	0.600000	0.82982	CGT		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	Missense_Mutation	25	1	0	0	0	1	0	25	1				
ASCC2	84164	broad.mit.edu	37	22	30218380	30218380	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30218380A>G	ENST00000397771.2	-	6	662	c.485T>C	c.(484-486)cTg>cCg	p.L162P	ASCC2_ENST00000542393.1_Missense_Mutation_p.L86P|ASCC2_ENST00000307790.3_Missense_Mutation_p.L162P			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCAGAGGTCCAGGATCTTTGG	0.478																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(484-486)cTg>cCg		activating signal cointegrator 1 complex subunit 2							137.0	129.0	132.0					22																	30218380		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30218380A>G	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.485T>C	22.37:g.30218380A>G	ENSP00000380877:p.Leu162Pro					ASCC2_ENST00000542393.1_Missense_Mutation_p.L86P|ASCC2_ENST00000307790.3_Missense_Mutation_p.L162P	p.L162P			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		6	662	-			162					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.485T>C	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535128	0.85812	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535;ENST00000412689	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.68714	0.3031	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.993;0.994	T	0.72340	-0.4323	10	0.72032	D	0.01	-13.4017	15.0661	0.71996	1.0:0.0:0.0:0.0	.	86;162	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	P	162;162;86;162;162	ENSP00000305502:L162P;ENSP00000380877:L162P;ENSP00000437570:L86P;ENSP00000412382:L162P;ENSP00000417032:L162P	ENSP00000305502:L162P	L	-	2	0	ASCC2	28548380	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.757000	0.91657	2.234000	0.73211	0.533000	0.62120	CTG		0.478	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		38	50	0	0	0	1	0	38	50				
AHNAK2	113146	broad.mit.edu	37	14	105411028	105411028	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105411028C>T	ENST00000333244.5	-	7	10879	c.10760G>A	c.(10759-10761)gGc>gAc	p.G3587D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3587						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTTGGGGCCTTTCAGGTC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10759-10761)gGc>gAc		AHNAK nucleoprotein 2							102.0	111.0	108.0					14																	105411028		1903	4113	6016	SO:0001583	missense	113146					nucleus		g.chr14:105411028C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10760G>A	14.37:g.105411028C>T	ENSP00000353114:p.Gly3587Asp					AHNAK2_ENST00000557457.1_Intron	p.G3587D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10879	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3587					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10760G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627817	0.28978	.	.	ENSG00000185567	ENST00000333244	T	0.06068	3.35	4.19	0.847	0.18961	.	.	.	.	.	T	0.27027	0.0662	M	0.91406	3.205	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.06197	-1.0840	9	0.39692	T	0.17	.	10.419	0.44340	0.4792:0.5208:0.0:0.0	.	3587	Q8IVF2	AHNK2_HUMAN	D	3587	ENSP00000353114:G3587D	ENSP00000353114:G3587D	G	-	2	0	AHNAK2	104482073	0.000000	0.05858	0.013000	0.15412	0.194000	0.23727	-0.399000	0.07250	0.182000	0.20032	0.313000	0.20887	GGC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		76	93	0	0	0	1	0	76	93				
PCDHA11	56138	broad.mit.edu	37	5	140250616	140250616	+	Missense_Mutation	SNP	G	G	A	rs543880939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140250616G>A	ENST00000398640.2	+	1	1928	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCCGCGCCACCGACTT	0.687													.|||	1	0.000199681	0.0	0.0	5008	,	,		14666	0.0		0.0	False		,,,				2504	0.001					ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1927-1929)cGc>cAc									37.0	43.0	41.0					5																	140250616		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250616G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1928G>A	5.37:g.140250616G>A	ENSP00000381636:p.Arg643His					PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.R643H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1928	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1928G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	3.614	-0.078974	0.07141	.	.	ENSG00000249158	ENST00000398640	T	0.52754	0.65	4.57	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43986	0.1272	L	0.53780	1.695	0.09310	N	1	B;B	0.25351	0.102;0.124	B;B	0.27715	0.049;0.082	T	0.41288	-0.9517	9	0.72032	D	0.01	.	9.8644	0.41134	0.1771:0.0:0.8229:0.0	.	643;643	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	643	ENSP00000381636:R643H	ENSP00000381636:R643H	R	+	2	0	PCDHA11	140230800	0.000000	0.05858	0.062000	0.19696	0.010000	0.07245	0.079000	0.14782	0.334000	0.23590	0.556000	0.70494	CGC		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		23	37	0	0	0	1	0	23	37				
NOTCH1	4851	broad.mit.edu	37	9	139402764	139402764	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139402764C>T	ENST00000277541.6	-	20	3320	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1082	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACTCGCAGCGGTACTGGGT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3244-3246)cGc>cAc		notch 1							73.0	92.0	86.0					9																	139402764		2122	4216	6338	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402764C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3245G>A	9.37:g.139402764C>T	ENSP00000277541:p.Arg1082His	HNSCC(8;0.001)					p.R1082H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3320	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1082			EGF-like 28.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3245G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766724	0.49574	.	.	ENSG00000148400	ENST00000277541	T	0.61274	0.12	5.23	3.15	0.36227	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.179045	0.49305	N	0.000154	T	0.34337	0.0894	N	0.11154	0.105	0.37154	D	0.902285	B	0.12630	0.006	B	0.18561	0.022	T	0.13818	-1.0495	10	0.22109	T	0.4	.	9.4694	0.38833	0.0:0.7369:0.0:0.2631	.	1082	P46531	NOTC1_HUMAN	H	1082	ENSP00000277541:R1082H	ENSP00000277541:R1082H	R	-	2	0	NOTCH1	138522585	0.999000	0.42202	0.997000	0.53966	0.959000	0.62525	0.646000	0.24797	0.450000	0.26774	0.655000	0.94253	CGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		38	63	0	0	0	1	0	38	63				
HLA-DMA	3108	broad.mit.edu	37	6	32917165	32917165	+	Missense_Mutation	SNP	C	C	T	rs199940435		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:32917165C>T	ENST00000374843.4	-	4	749	c.664G>A	c.(664-666)Gca>Aca	p.A222T	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A188T|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A127T|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	222	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.A222S(2)		kidney(1)|large_intestine(2)|lung(8)	11						GAGGGCAGTGCGTTCCGGGGT	0.587																																						ENST00000374843.4																			2	Substitution - Missense(2)	p.A222S(2)	lung(2)	kidney(1)|large_intestine(2)|lung(8)	11						c.(664-666)Gca>Aca		major histocompatibility complex, class II, DM alpha		C	THR/ALA	0,4406		0,0,2203	76.0	70.0	72.0		664	2.1	0.1	6		72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HLA-DMA	NM_006120.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	222/262	32917165	1,13005	2203	4300	6503	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32917165C>T		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.664G>A	6.37:g.32917165C>T	ENSP00000363976:p.Ala222Thr					HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A188T|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A127T|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR	p.A222T	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			4	749	-			222					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.664G>A	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876309	0.17395	0.0	1.16E-4	ENSG00000204257	ENST00000395305;ENST00000395303;ENST00000374843;ENST00000456800	T;T;T;T	0.01446	5.43;4.88;5.95;5.89	5.13	2.13	0.27403	.	0.403246	0.29424	N	0.012183	T	0.01254	0.0041	L	0.58669	1.825	0.09310	N	1	D	0.71674	0.998	P	0.45167	0.472	T	0.49303	-0.8954	10	0.51188	T	0.08	.	12.6794	0.56914	0.0:0.5045:0.4954:0.0	.	222	Q31604	.	T	127;188;222;252	ENSP00000378716:A127T;ENSP00000378714:A188T;ENSP00000363976:A222T;ENSP00000409668:A252T	ENSP00000363976:A222T	A	-	1	0	HLA-DMA	33025143	0.188000	0.23250	0.059000	0.19551	0.015000	0.08874	0.297000	0.19101	0.822000	0.34565	-0.189000	0.12847	GCA		0.587	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		3	3	0	0	0	1	0	3	3				
AGPAT5	55326	broad.mit.edu	37	8	6605240	6605240	+	Silent	SNP	C	C	T	rs539082371		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:6605240C>T	ENST00000285518.6	+	6	948	c.636C>T	c.(634-636)caC>caT	p.H212H	AGPAT5_ENST00000530716.1_3'UTR|MIR4659B_ENST00000580269.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	212					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGCAACTCACGTTGCTTTTG	0.403																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(634-636)caC>caT		1-acylglycerol-3-phosphate O-acyltransferase 5							117.0	113.0	114.0					8																	6605240		2203	4300	6503	SO:0001819	synonymous_variant	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6605240C>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.636C>T	8.37:g.6605240C>T						AGPAT5_ENST00000530716.1_3'UTR	p.H212H	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	6	948	+			212					Q8IZ47|Q9BQG4	Silent	SNP	ENST00000285518.6	37	c.636C>T	CCDS34796.1																																																																																				0.403	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		23	42	0	0	0	1	0	23	42				
BTN2A3P	54718	broad.mit.edu	37	6	26431655	26431655	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26431655C>T	ENST00000466808.2	+	0	1603							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGAAGACACGCCCTCCTCCCC	0.572																																						ENST00000466808.2																			0																				155.0	131.0	139.0					6																	26431655		2203	4300	6503			0							g.chr6:26431655C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431655C>T														0	1603	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.572	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	46	0	0	0	1	0	5	46				
SEC24C	9632	broad.mit.edu	37	10	75519998	75519998	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75519998G>T	ENST00000339365.2	+	6	866	c.704G>T	c.(703-705)aGt>aTt	p.S235I	SEC24C_ENST00000411652.2_Missense_Mutation_p.S93I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.S93I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.S235I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCTGGACAGAGTTTTGGAGGG	0.642																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(703-705)aGt>aTt		SEC24 family member C							82.0	86.0	84.0					10																	75519998		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75519998G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.704G>T	10.37:g.75519998G>T	ENSP00000343405:p.Ser235Ile					SEC24C_ENST00000345254.4_Missense_Mutation_p.S235I|SEC24C_ENST00000411652.2_Missense_Mutation_p.S93I|SEC24C_ENST00000546025.1_Missense_Mutation_p.S93I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	p.S235I	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			6	866	+	Prostate(51;0.0112)		235					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.704G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966810	0.34659	.	.	ENSG00000176986	ENST00000546025;ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.82344	-1.19;-1.19;-1.6	5.63	2.62	0.31277	.	0.804069	0.11989	N	0.510078	T	0.73544	0.3600	L	0.36672	1.1	0.80722	D	1	B;B;B	0.29646	0.083;0.253;0.09	B;B;B	0.29942	0.019;0.109;0.015	T	0.66056	-0.6018	10	0.36615	T	0.2	-1.765	7.1424	0.25564	0.1669:0.2725:0.5606:0.0	.	93;235;235	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	I	93;235;235;93	ENSP00000321845:S235I;ENSP00000343405:S235I;ENSP00000402913:S93I	ENSP00000343405:S235I	S	+	2	0	SEC24C	75190004	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.064000	0.41432	0.858000	0.35431	-0.254000	0.11334	AGT		0.642	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			29	37	1	0	1.08312e-15	1	1.18619e-15	29	37				
ZNF286B	729288	broad.mit.edu	37	17	18566500	18566500	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566500G>A	ENST00000545289.1	-	5	569	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	ZNF286B_ENST00000285274.5_Missense_Mutation_p.A56V	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CATTGGAAATGCAAATTTCCT	0.393																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(319-321)Cat>Tat		zinc finger protein 286B							99.0	78.0	84.0					17																	18566500		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566500G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.319C>T	17.37:g.18566500G>A	ENSP00000461413:p.His107Tyr						p.H107Y	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	569	-			107						Missense_Mutation	SNP	ENST00000545289.1	37	c.319C>T	CCDS58523.1																																																																																				0.393	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		15	31	0	0	0	1	0	15	31				
ATG2A	23130	broad.mit.edu	37	11	64665161	64665161	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64665161G>A	ENST00000377264.3	-	36	5161	c.5049C>T	c.(5047-5049)caC>caT	p.H1683H	ATG2A_ENST00000421419.2_Silent_p.H1685H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1683					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)				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						CCATCGTGACGTGCTTGCCAT	0.627																																						ENST00000421419.2																			0				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						c.(5053-5055)caC>caT		autophagy related 2A							95.0	88.0	90.0					11																	64665161		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64665161G>A		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.5049C>T	11.37:g.64665161G>A						ATG2A_ENST00000377264.3_Silent_p.H1683H	p.H1685H			Q2TAZ0	ATG2A_HUMAN			36	5169	-			1683					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.5055C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839981	0.16891	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.1	-1.13	0.09775	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47812	-0.9088	4	.	.	.	.	8.1346	0.31048	0.6464:0.0:0.3536:0.0	.	.	.	.	C	1487	.	.	R	-	1	0	ATG2A	64421737	0.993000	0.37304	0.994000	0.49952	0.986000	0.74619	0.392000	0.20801	-0.090000	0.12462	0.561000	0.74099	CGT		0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		20	22	0	0	0	1	0	20	22				
NOTCH3	4854	broad.mit.edu	37	19	15271812	15271812	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15271812C>T	ENST00000263388.2	-	33	6702	c.6627G>A	c.(6625-6627)ccG>ccA	p.P2209P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2209					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAGGTAAGGCGGGGGCCGCT	0.731																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6625-6627)ccG>ccA		notch 3							3.0	5.0	4.0					19																	15271812		1937	3917	5854	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271812C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6627G>A	19.37:g.15271812C>T							p.P2209P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6702	-			2209					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6627G>A	CCDS12326.1																																																																																				0.731	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	2	0	0	0	1	0	4	2				
COG8	84342	broad.mit.edu	37	16	69369129	69369129	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:69369129G>A	ENST00000306875.4	-	3	822	c.708C>T	c.(706-708)gaC>gaT	p.D236D	COG8_ENST00000562081.1_Silent_p.D236D|RP11-343C2.9_ENST00000563634.1_Silent_p.D111D|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	236					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGTGAAGACGTCCATGCGCC	0.557																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(706-708)gaC>gaT		component of oligomeric golgi complex 8							67.0	50.0	55.0					16																	69369129		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69369129G>A	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.708C>T	16.37:g.69369129G>A						COG8_ENST00000562081.1_Silent_p.D236D|RP11-343C2.9_ENST00000563634.1_Silent_p.D111D	p.D236D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			3	822	-			236					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.708C>T	CCDS10876.1																																																																																				0.557	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		3	11	0	0	0	1	0	3	11				
ZBTB2	57621	broad.mit.edu	37	6	151686671	151686671	+	Silent	SNP	G	G	A	rs377600897		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1528-1530)acC>acT		zinc finger and BTB domain containing 2		G		0,4406		0,0,2203	115.0	111.0	113.0		1530	-8.8	0.6	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB2	NM_020861.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		510/515	151686671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686671G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1530C>T	6.37:g.151686671G>A							p.T510T	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1670	-			510					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.1530C>T	CCDS5231.1																																																																																				0.448	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		50	79	0	0	0	1	0	50	79				
SH2D3A	10045	broad.mit.edu	37	19	6760819	6760819	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6760819C>T	ENST00000245908.6	-	3	518	c.249G>A	c.(247-249)gaG>gaA	p.E83E	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGGGGAATTGCTCATCCTCCA	0.642																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(247-249)gaG>gaA		SH2 domain containing 3A							71.0	69.0	70.0					19																	6760819		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760819C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.249G>A	19.37:g.6760819C>T						SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	p.E83E	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	518	-			83			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.249G>A	CCDS12173.1																																																																																				0.642	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		34	44	0	0	0	1	0	34	44				
DIS3L2	129563	broad.mit.edu	37	2	233001355	233001355	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233001355G>A	ENST00000360410.4	+	9	1211	c.935G>A	c.(934-936)gGc>gAc	p.G312D	DIS3L2_ENST00000273009.6_Silent_p.R292R|DIS3L2_ENST00000409307.1_Silent_p.R292R|DIS3L2_ENST00000325385.7_Silent_p.R292R					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGTGGCACGGCCTAAAGATT	0.507																																						ENST00000360410.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(934-936)gGc>gAc		DIS3 mitotic control homolog (S. cerevisiae)-like 2							145.0	138.0	140.0					2																	233001355		1942	4145	6087	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233001355G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000360410.4:c.935G>A	2.37:g.233001355G>A	ENSP00000353584:p.Gly312Asp					DIS3L2_ENST00000325385.7_Silent_p.R292R|DIS3L2_ENST00000273009.6_Silent_p.R292R|DIS3L2_ENST00000409307.1_Silent_p.R292R	p.G312D			Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	9	1211	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	0						Missense_Mutation	SNP	ENST00000360410.4	37	c.935G>A		.	.	.	.	.	.	.	.	.	.	G	18.05	3.537130	0.65085	.	.	ENSG00000144535	ENST00000360410	T	0.46451	0.87	6.08	0.258	0.15578	.	.	.	.	.	T	0.41373	0.1156	.	.	.	0.22754	N	0.998776	.	.	.	.	.	.	T	0.40346	-0.9568	6	0.87932	D	0	-18.8898	7.0912	0.25285	0.4522:0.1127:0.4351:0.0	.	.	.	.	D	312	ENSP00000353584:G312D	ENSP00000353584:G312D	G	+	2	0	DIS3L2	232709599	0.969000	0.33509	0.996000	0.52242	0.992000	0.81027	0.081000	0.14823	-0.024000	0.13941	-0.469000	0.05056	GGC		0.507	DIS3L2-202	KNOWN	basic	protein_coding	protein_coding		NM_152383		40	57	0	0	0	1	0	40	57				
OR2B6	26212	broad.mit.edu	37	6	27925441	27925441	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:27925441C>T	ENST00000244623.1	+	1	423	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141*(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGACTCTGCCTCCAGTTGG	0.498																																						ENST00000244623.1																			1	Substitution - Nonsense(1)	p.C141*(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(421-423)tgC>tgT		olfactory receptor, family 2, subfamily B, member 6							106.0	107.0	107.0					6																	27925441		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925441C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.423C>T	6.37:g.27925441C>T							p.C141C	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	423	+			141					O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.423C>T	CCDS4642.1																																																																																				0.498	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			46	77	0	0	0	1	0	46	77				
NOTCH1	4851	broad.mit.edu	37	9	139391156	139391156	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139391156G>A	ENST00000277541.6	-	34	7110	c.7035C>T	c.(7033-7035)ggC>ggT	p.G2345G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2345					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCTACCATGCCATGCTGCA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7033-7035)ggC>ggT		notch 1							31.0	36.0	34.0					9																	139391156		2033	4161	6194	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139391156G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7035C>T	9.37:g.139391156G>A		HNSCC(8;0.001)					p.G2345G	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7110	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2345					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.7035C>T	CCDS43905.1																																																																																				0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	45	0	0	0	1	0	10	45				
LGALS4	3960	broad.mit.edu	37	19	39303130	39303130	+	Silent	SNP	G	G	A	rs201486930		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39303130G>A	ENST00000307751.4	-	2	552	c.75C>T	c.(73-75)ggC>ggT	p.G25G	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	25	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGTTGAGCCCGCCCGGGATGG	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18084	0.0		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(73-75)ggC>ggT		lectin, galactoside-binding, soluble, 4							68.0	62.0	64.0					19																	39303130		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39303130G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.75C>T	19.37:g.39303130G>A						LGALS4_ENST00000597803.1_5'UTR	p.G25G	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	552	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		25			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.75C>T	CCDS12521.1																																																																																				0.607	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		9	19	0	0	0	1	0	9	19				
SGSM1	129049	broad.mit.edu	37	22	25294511	25294511	+	Silent	SNP	C	C	T	rs192179009	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:25294511C>T	ENST00000400359.4	+	20	2767	c.2760C>T	c.(2758-2760)agC>agT	p.S920S	SGSM1_ENST00000400358.4_Silent_p.S865S|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	920	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGTCTTCCAGCGGCGTCACCT	0.547													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18284	0.0		0.001	False		,,,				2504	0.0					ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2593-2595)agC>agT		small G protein signaling modulator 1		C	,,,	1,4071		0,1,2035	61.0	64.0	63.0		2760,2595,2412,2577	-6.6	0.5	22		63	12,8358		0,12,4173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	,,,	0,13,6208	TT,TC,CC		0.1434,0.0246,0.1045	,,,	920/1149,865/1094,804/1033,859/1088	25294511	13,12429	2036	4185	6221	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294511C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2760C>T	22.37:g.25294511C>T						SGSM1_ENST00000400359.4_Silent_p.S920S	p.S865S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2652	+			920			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.2595C>T	CCDS46674.1																																																																																				0.547	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		30	45	0	0	0	1	0	30	45				
RNF24	11237	broad.mit.edu	37	20	3915668	3915668	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3915668C>T	ENST00000336095.6	-	5	532	c.281G>A	c.(280-282)tGc>tAc	p.C94Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C115Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C94Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C115Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	94						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTACATGGGCAAATCCCCAA	0.448																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(280-282)tGc>tAc		ring finger protein 24							152.0	126.0	135.0					20																	3915668		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3915668C>T	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.281G>A	20.37:g.3915668C>T	ENSP00000336753:p.Cys94Tyr					RNF24_ENST00000545616.1_Missense_Mutation_p.C115Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C94Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C115Y	p.C94Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			5	532	-			94					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.281G>A	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312316	0.81358	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.9	4.95	0.65309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.48642	1.525	0.58432	D	0.999999	D;D	0.71674	0.998;0.971	D;P	0.72338	0.977;0.5	T	0.60677	-0.7216	10	0.87932	D	0	-9.3382	14.2529	0.66031	0.1501:0.8499:0.0:0.0	.	115;94	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	94;94;115;115	ENSP00000336753:C94Y;ENSP00000351166:C94Y;ENSP00000444711:C115Y;ENSP00000388550:C115Y	ENSP00000336753:C94Y	C	-	2	0	RNF24	3863668	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	6.731000	0.74785	1.476000	0.48215	0.561000	0.74099	TGC		0.448	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			9	25	0	0	0	1	0	9	25				
CROCCP2	84809	broad.mit.edu	37	1	16945567	16945567	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16945567G>A	ENST00000412962.1	-	0	1952				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCTGACAGCGCCATCTTCTC	0.622																																						ENST00000412962.1																			0																																																			0							g.chr1:16945567G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945567G>A														0	1952	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		26	266	0	0	0	1	0	26	266				
SPATA5	166378	broad.mit.edu	37	4	123850197	123850197	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:123850197G>A	ENST00000274008.4	+	3	360	c.291G>A	c.(289-291)gtG>gtA	p.V97V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	97					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCTGGCAGGTGTATACAGCCT	0.433																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(289-291)gtG>gtA		spermatogenesis associated 5							50.0	49.0	49.0					4																	123850197		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123850197G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.291G>A	4.37:g.123850197G>A						SPATA5_ENST00000422835.2_3'UTR	p.V97V	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			3	360	+			97					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.291G>A	CCDS3730.1																																																																																				0.433	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		9	11	0	0	0	1	0	9	11				
RBFOX2	23543	broad.mit.edu	37	22	36146495	36146495	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36146495C>T	ENST00000359369.4	-	11	957	c.874G>A	c.(874-876)Gca>Aca	p.A292T	RBFOX2_ENST00000262829.7_Intron|RBFOX2_ENST00000405409.2_Intron|RBFOX2_ENST00000449924.2_Intron|RBFOX2_ENST00000438146.2_Intron|RBFOX2_ENST00000414461.2_Intron|RBFOX2_ENST00000397303.2_Intron|RBFOX2_ENST00000416721.2_Intron			O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	232	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						AAGCAGTTTGCAGATTCTATC	0.388																																						ENST00000359369.4																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(874-876)Gca>Aca		RNA binding protein, fox-1 homolog (C. elegans) 2							34.0	35.0	35.0					22																	36146495		876	1991	2867	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36146495C>T	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000359369.4:c.874G>A	22.37:g.36146495C>T	ENSP00000352328:p.Ala292Thr					RBFOX2_ENST00000438146.2_Intron|RBFOX2_ENST00000414461.2_Intron|RBFOX2_ENST00000397303.2_Intron|RBFOX2_ENST00000449924.2_Intron|RBFOX2_ENST00000416721.2_Intron|RBFOX2_ENST00000262829.7_Intron|RBFOX2_ENST00000405409.2_Intron	p.A292T			O43251	RFOX2_HUMAN			11	957	-			232			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000359369.4	37	c.874G>A		.	.	.	.	.	.	.	.	.	.	C	15.86	2.959062	0.53400	.	.	ENSG00000100320	ENST00000338644;ENST00000359369	T	0.34667	1.35	5.72	5.72	0.89469	.	.	.	.	.	T	0.37598	0.1009	.	.	.	0.80722	D	1	B	0.30542	0.284	B	0.35312	0.2	T	0.08638	-1.0712	8	0.36615	T	0.2	.	18.077	0.89430	0.0:1.0:0.0:0.0	.	292	B0QYY4	.	T	322;292	ENSP00000352328:A292T	ENSP00000342831:A322T	A	-	1	0	RBFOX2	34476441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.770000	0.62309	2.717000	0.92951	0.655000	0.94253	GCA		0.388	RBFOX2-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000319333.1			3	17	0	0	0	1	0	3	17				
ARHGEF40	55701	broad.mit.edu	37	14	21543039	21543039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21543039C>T	ENST00000298694.4	+	3	1277	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.R384*			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	384	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AAGAAAGAAGCGAGCTGCAGG	0.617																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1150-1152)Cga>Tga		Rho guanine nucleotide exchange factor (GEF) 40							73.0	62.0	66.0					14																	21543039		2203	4300	6503	SO:0001587	stop_gained	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21543039C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1150C>T	14.37:g.21543039C>T	ENSP00000298694:p.Arg384*					ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.R384*	p.R384*			Q8TER5	ARH40_HUMAN			3	1277	+			384			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Nonsense_Mutation	SNP	ENST00000298694.4	37	c.1150C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625322	0.96671	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	.	.	.	5.14	2.16	0.27623	.	0.000000	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4771	0.16702	0.4067:0.4964:0.0:0.0969	.	.	.	.	X	384	.	ENSP00000298693:R384X	R	+	1	2	ARHGEF40	20612879	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	0.612000	0.24283	0.602000	0.29896	-0.521000	0.04368	CGA		0.617	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			12	22	0	0	0	1	0	12	22				
CS	1431	broad.mit.edu	37	12	56667535	56667535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56667535G>A	ENST00000351328.3	-	10	1256	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	CS_ENST00000542324.2_Nonsense_Mutation_p.R343*|CS_ENST00000548567.1_Nonsense_Mutation_p.R290*	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	356					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAGGTATATCGCGGATCAGTC	0.423																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(868-870)Cga>Tga		citrate synthase							117.0	107.0	111.0					12																	56667535		2203	4300	6503	SO:0001587	stop_gained	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667535G>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1066C>T	12.37:g.56667535G>A	ENSP00000342056:p.Arg356*					CS_ENST00000542324.2_Nonsense_Mutation_p.R343*|CS_ENST00000351328.3_Nonsense_Mutation_p.R356*	p.R290*			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1338	-		Myeloproliferative disorder(1001;0.000374)	356					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Nonsense_Mutation	SNP	ENST00000351328.3	37	c.868C>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	39	7.570157	0.98365	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.533	15.1855	0.72999	0.0:0.0:0.8578:0.1422	.	.	.	.	X	290;356;29;343	.	ENSP00000342056:R356X	R	-	1	2	CS	54953802	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.166000	0.77553	1.518000	0.48934	0.655000	0.94253	CGA		0.423	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		20	63	0	0	0	1	0	20	63				
SLC35F4	341880	broad.mit.edu	37	14	58060841	58060841	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58060841A>G	ENST00000339762.6	-	2	212	c.213T>C	c.(211-213)ggT>ggC	p.G71G	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Splice_Site_p.S35S|SLC35F4_ENST00000557430.1_5'UTR			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	71					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCTGGAGGTACCTGGAAAGA	0.438																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e2-1		solute carrier family 35, member F4							65.0	63.0	64.0					14																	58060841		1915	4118	6033	SO:0001630	splice_region_variant	341880							g.chr14:58060841A>G			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.212-1T>C	14.37:g.58060841A>G						SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000339762.6_Splice_Site_p.G71_splice|SLC35F4_ENST00000554729.1_5'UTR	p.S35_splice	NM_001206920.1	NP_001193849.1					2	341	-								A6NDQ3	Splice_Site	SNP	ENST00000339762.6	37	c.103_splice																																																																																					0.438	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	Silent	9	24	0	0	0	1	0	9	24				
VILL	50853	broad.mit.edu	37	3	38048184	38048184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38048184G>A	ENST00000283713.6	+	19	2716	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	VILL_ENST00000465644.1_Missense_Mutation_p.R535H|VILL_ENST00000383759.2_Missense_Mutation_p.R817H			O15195	VILL_HUMAN	villin-like	817	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCTGCCCGCAGGGAGGTG	0.672																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2449-2451)cGc>cAc		villin-like							25.0	30.0	28.0					3																	38048184		2193	4281	6474	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048184G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2450G>A	3.37:g.38048184G>A	ENSP00000283713:p.Arg817His					VILL_ENST00000383759.2_Missense_Mutation_p.R817H|VILL_ENST00000465644.1_Missense_Mutation_p.R535H	p.R817H			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2716	+			817			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2450G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	g	11.22	1.575663	0.28092	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.17054	2.42;2.42;2.3	4.19	2.18	0.27775	Villin headpiece (3);	0.729569	0.13219	N	0.404516	T	0.11537	0.0281	L	0.28014	0.82	0.21220	N	0.999751	B	0.18461	0.028	B	0.13407	0.009	T	0.26950	-1.0088	10	0.41790	T	0.15	-7.2818	7.7533	0.28909	0.3113:0.0:0.6887:0.0	.	817	O15195	VILL_HUMAN	H	817;817;803;535	ENSP00000283713:R817H;ENSP00000373266:R817H;ENSP00000422096:R535H	ENSP00000283713:R817H	R	+	2	0	VILL	38023188	0.000000	0.05858	0.955000	0.39395	0.778000	0.44026	0.514000	0.22786	0.240000	0.21263	0.457000	0.33378	CGC		0.672	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		9	22	0	0	0	1	0	9	22				
NUBP1	4682	broad.mit.edu	37	16	10841067	10841067	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:10841067C>T	ENST00000283027.5	+	3	211	c.192C>T	c.(190-192)ggC>ggT	p.G64G	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.G64G	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CTGGGAAAGGCGGTGTTGGGA	0.463																																						ENST00000283027.5																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(190-192)ggC>ggT		nucleotide binding protein 1							126.0	128.0	128.0					16																	10841067		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10841067C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.192C>T	16.37:g.10841067C>T						NUBP1_ENST00000433392.2_Silent_p.G64G|NUBP1_ENST00000571790.1_3'UTR	p.G64G	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN			3	211	+			64						Silent	SNP	ENST00000283027.5	37	c.192C>T	CCDS10543.1																																																																																				0.463	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		23	37	0	0	0	1	0	23	37				
DKKL1	27120	broad.mit.edu	37	19	49869055	49869055	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49869055C>T	ENST00000221498.2	+	4	735	c.330C>T	c.(328-330)acC>acT	p.T110T	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	110					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACAGATGACCGACAACAAGA	0.567																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(328-330)acC>acT		dickkopf-like 1							100.0	87.0	91.0					19																	49869055		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49869055C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.330C>T	19.37:g.49869055C>T						DKKL1_ENST00000594268.1_Intron	p.T110T	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	4	735	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	110						Silent	SNP	ENST00000221498.2	37	c.330C>T	CCDS12762.1																																																																																				0.567	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		3	24	0	0	0	1	0	3	24				
EHD3	30845	broad.mit.edu	37	2	31484534	31484534	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31484534G>A	ENST00000322054.5	+	5	1320	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	345					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCGAGCGGGAGCACCAGATCT	0.582																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1033-1035)gaG>gaA		EH-domain containing 3							114.0	110.0	111.0					2																	31484534		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484534G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1035G>A	2.37:g.31484534G>A						EHD3_ENST00000541626.1_Intron	p.E345E	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1320	+	Acute lymphoblastic leukemia(172;0.155)		345					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1035G>A	CCDS1774.1																																																																																				0.582	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		27	35	0	0	0	1	0	27	35				
GIGYF1	64599	broad.mit.edu	37	7	100281031	100281031	+	Missense_Mutation	SNP	G	G	A	rs566533404		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100281031G>A	ENST00000275732.5	-	18	3298	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	697					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)					TCTTCCTCCCGCTTCGCCCTG	0.657																																						ENST00000275732.5																			0				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						c.(2089-2091)Cgg>Tgg		GRB10 interacting GYF protein 1							113.0	127.0	122.0					7																	100281031		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281031G>A	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.2089C>T	7.37:g.100281031G>A	ENSP00000275732:p.Arg697Trp						p.R697W	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3298	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		697					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2089C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.77	2.932924	0.52866	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.65364	-0.15	4.05	4.05	0.47172	.	0.432490	0.20175	N	0.097657	T	0.71567	0.3355	L	0.54323	1.7	0.53688	D	0.999976	D	0.89917	1.0	D	0.77557	0.99	T	0.72197	-0.4363	10	0.59425	D	0.04	-29.1935	9.0776	0.36531	0.0:0.0:0.7811:0.2189	.	697	O75420	PERQ1_HUMAN	W	416;697	ENSP00000275732:R697W	ENSP00000275732:R697W	R	-	1	2	GIGYF1	100118967	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.500000	0.45381	2.090000	0.63153	0.313000	0.20887	CGG		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		79	92	0	0	0	1	0	79	92				
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:137363356C>T	ENST00000288490.5	-	3	553	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_ENST00000424189.2_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	185					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(553-555)Gtc>Atc		diacylglycerol kinase, iota							167.0	154.0	158.0					7																	137363356		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137363356C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.553G>A	7.37:g.137363356C>T	ENSP00000288490:p.Val185Ile					DGKI_ENST00000288490.5_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I|DGKI_ENST00000453654.1_5'UTR	p.V185I			O75912	DGKI_HUMAN			3	782	-			185					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.553G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502600	0.64298	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.84660	-1.88;-1.88	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.112824	0.64402	D	0.000008	T	0.79667	0.4485	L	0.54323	1.7	0.35774	D	0.821112	P	0.37525	0.598	B	0.22601	0.04	T	0.82756	-0.0300	10	0.26408	T	0.33	.	17.9582	0.89076	0.0:1.0:0.0:0.0	.	185	O75912	DGKI_HUMAN	I	133;185;185;185	ENSP00000288490:V185I;ENSP00000399131:V185I	ENSP00000288490:V185I	V	-	1	0	DGKI	137013896	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.667000	0.54547	2.534000	0.85438	0.467000	0.42956	GTC		0.507	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		61	81	0	0	0	1	0	61	81				
CHMP5	51510	broad.mit.edu	37	9	33265135	33265135	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33265135G>A	ENST00000223500.8	+	1	196	c.59G>A	c.(58-60)tGc>tAc	p.C20Y	BAG1_ENST00000379704.2_5'Flank|BAG1_ENST00000472232.3_5'Flank|CHMP5_ENST00000419016.2_Missense_Mutation_p.C20Y	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CTGACTGACTGCATTGGCACG	0.582																																						ENST00000419016.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(58-60)tGc>tAc		charged multivesicular body protein 5							99.0	109.0	106.0					9																	33265135		2203	4300	6503	SO:0001583	missense	51510				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding	g.chr9:33265135G>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.59G>A	9.37:g.33265135G>A	ENSP00000223500:p.Cys20Tyr					CHMP5_ENST00000223500.8_Missense_Mutation_p.C20Y	p.C20Y	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	99	+			20					B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.59G>A	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.004029	0.74932	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.71934	-0.61;-0.61	4.7	4.7	0.59300	.	0.096845	0.64402	D	0.000001	T	0.76343	0.3974	M	0.83483	2.645	0.80722	D	1	B;P	0.40794	0.298;0.729	B;B	0.44315	0.155;0.446	T	0.81040	-0.1113	10	0.87932	D	0	-2.9805	13.0265	0.58819	0.0:0.0:1.0:0.0	.	20;20	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	Y	20	ENSP00000223500:C20Y;ENSP00000442725:C20Y	ENSP00000223500:C20Y	C	+	2	0	CHMP5	33255135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.273000	0.89887	2.445000	0.82738	0.298000	0.19748	TGC		0.582	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		31	55	0	0	0	1	0	31	55				
TMEM69	51249	broad.mit.edu	37	1	46156748	46156748	+	Missense_Mutation	SNP	G	G	A	rs199639691		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:46156748G>A	ENST00000372025.4	+	2	1165	c.8G>A	c.(7-9)cGc>cAc	p.R3H	TMEM69_ENST00000496366.1_Intron	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	3						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGTATGCTTCGCTTCATCCAG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18496	0.0		0.001	False		,,,				2504	0.0					ENST00000372025.4																			0				kidney(3)|lung(4)|ovary(1)	8						c.(7-9)cGc>cAc		transmembrane protein 69		G	HIS/ARG	2,3824		0,2,1911	111.0	102.0	105.0		8	4.3	1.0	1		105	15,8243		0,15,4114	yes	missense	TMEM69	NM_016486.3	29	0,17,6025	AA,AG,GG		0.1816,0.0523,0.1407	benign	3/248	46156748	17,12067	1913	4129	6042	SO:0001583	missense	51249					integral to membrane		g.chr1:46156748G>A	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.8G>A	1.37:g.46156748G>A	ENSP00000361095:p.Arg3His					TMEM69_ENST00000496366.1_Intron	p.R3H	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN			2	1165	+	Acute lymphoblastic leukemia(166;0.155)		3					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.8G>A	CCDS41325.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.460	0.085120	0.08583	5.23E-4	0.001816	ENSG00000159596	ENST00000372025	.	.	.	5.42	4.3	0.51218	.	0.199616	0.46442	N	0.000288	T	0.11836	0.0288	N	0.02247	-0.625	0.24898	N	0.992122	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	9	0.02654	T	1	-2.9655	7.765	0.28974	0.902:0.0:0.098:0.0	.	3	Q5SWH9	TMM69_HUMAN	H	3	.	ENSP00000361095:R3H	R	+	2	0	TMEM69	45929335	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.604000	0.46274	1.005000	0.39183	-0.312000	0.09012	CGC		0.438	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		23	40	0	0	0	1	0	23	40				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092305	29092305	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:29092305C>T	ENST00000569815.1	-	0	210					NR_047567.1				golgin A6 family-like 7, pseudogene																		CCGGTACCAACACCAGCACTG	0.473																																						ENST00000569815.1																			0																																																			0							g.chr15:29092305C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092305C>T								NR_047567.1						0	210	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.473	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	5	0	0	0	1	0	4	5				
CHID1	66005	broad.mit.edu	37	11	883189	883189	+	Silent	SNP	G	G	A	rs542846606		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:883189G>A	ENST00000449825.1	-	10	1274	c.918C>T	c.(916-918)taC>taT	p.Y306Y	CHID1_ENST00000454838.2_Silent_p.Y331Y|CHID1_ENST00000528581.1_Silent_p.Y331Y|CHID1_ENST00000429789.2_Silent_p.Y275Y|CHID1_ENST00000436108.2_Silent_p.Y306Y|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Silent_p.Y331Y|CHID1_ENST00000323541.7_Silent_p.Y336Y|CHID1_ENST00000323578.8_Silent_p.Y306Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	306					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGGAGGTCGCGTAGTCCATAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18295	0.001		0.0	False		,,,				2504	0.0				Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(916-918)taC>taT		chitinase domain containing 1							121.0	111.0	114.0					11																	883189		2203	4299	6502	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:883189G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.918C>T	11.37:g.883189G>A						CHID1_ENST00000528581.1_Silent_p.Y331Y|CHID1_ENST00000323578.8_Silent_p.Y306Y|CHID1_ENST00000436108.2_Silent_p.Y306Y|CHID1_ENST00000336845.5_Silent_p.Y331Y|CHID1_ENST00000454838.2_Silent_p.Y331Y|CHID1_ENST00000429789.2_Silent_p.Y275Y|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Silent_p.Y336Y	p.Y306Y	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	10	1274	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	306					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.918C>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	G	4.382	0.070420	0.08436	.	.	ENSG00000177830	ENST00000529539	.	.	.	4.62	-2.69	0.06022	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.21627	N	0.999617	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	-22.7653	11.3855	0.49782	0.6303:0.0:0.3697:0.0	.	.	.	.	C	21	.	.	R	-	1	0	CHID1	873189	0.001000	0.12720	0.035000	0.18076	0.019000	0.09904	-1.079000	0.03410	-0.412000	0.07519	-0.251000	0.11542	CGC		0.637	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		36	71	0	0	0	1	0	36	71				
EGLN3	112399	broad.mit.edu	37	14	34419698	34419698	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34419698G>A	ENST00000250457.3	-	1	589	c.261C>T	c.(259-261)ggC>ggT	p.G87G	EGLN3_ENST00000547327.2_Silent_p.G87G|EGLN3_ENST00000553215.1_Intron	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	87					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGGCCTCGCAGCCCTCCTCGT	0.682																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(259-261)ggC>ggT		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						35.0	40.0	38.0					14																	34419698		2203	4299	6502	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419698G>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.261C>T	14.37:g.34419698G>A						EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Silent_p.G87G	p.G87G			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	589	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		87					Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.261C>T	CCDS9646.1																																																																																				0.682	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			11	30	0	0	0	1	0	11	30				
OR8H2	390151	broad.mit.edu	37	11	55872892	55872892	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55872892C>T	ENST00000313503.1	+	1	374	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CGCTATGCAGCGATCTGCAGT	0.468										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(373-375)gCg>gTg		olfactory receptor, family 8, subfamily H, member 2							188.0	184.0	185.0					11																	55872892		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872892C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.374C>T	11.37:g.55872892C>T	ENSP00000323982:p.Ala125Val	HNSCC(53;0.14)					p.A125V	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	374	+	Esophageal squamous(21;0.00693)		125					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.374C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.164155	0.57476	.	.	ENSG00000181767	ENST00000313503	T	0.01228	5.14	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.15392	0.0371	H	0.97564	4.03	0.43462	D	0.995664	D	0.89917	1.0	D	0.91635	0.999	T	0.38243	-0.9670	10	0.87932	D	0	.	15.6689	0.77258	0.0:1.0:0.0:0.0	.	125	Q8N162	OR8H2_HUMAN	V	125	ENSP00000323982:A125V	ENSP00000323982:A125V	A	+	2	0	OR8H2	55629468	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.254000	0.78329	1.835000	0.53391	0.440000	0.28878	GCG		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		4	79	0	0	0	1	0	4	79				
NF2	4771	broad.mit.edu	37	22	30035131	30035131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:30035131C>T	ENST00000338641.4	+	3	734	c.293C>T	c.(292-294)gCc>gTc	p.A98V	NF2_ENST00000403999.3_Missense_Mutation_p.A98V|NF2_ENST00000353887.4_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.A98V|NF2_ENST00000413209.2_Missense_Mutation_p.A98V|NF2_ENST00000397789.3_Missense_Mutation_p.A98V|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.A98V|NF2_ENST00000361676.4_Missense_Mutation_p.A56V|NF2_ENST00000347330.5_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	98	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.V86_Q111>E(1)|p.L97fs*22(1)|p.H84_F100del(1)|p.L97fs*17(1)|p.H95fs*3(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CACTTCTTGGCCAAATTTTAT	0.428			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		8	Unknown(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.?(3)|p.V86_Q111>E(1)|p.L97fs*22(1)|p.H84_F100del(1)|p.L97fs*17(1)|p.H95fs*3(1)	soft_tissue(4)|meninges(1)|stomach(1)|large_intestine(1)|lung(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(292-294)gCc>gTc		neurofibromin 2 (merlin)							134.0	118.0	123.0					22																	30035131		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035131C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.293C>T	22.37:g.30035131C>T	ENSP00000344666:p.Ala98Val					NF2_ENST00000397789.3_Missense_Mutation_p.A98V|NF2_ENST00000403435.1_Missense_Mutation_p.A98V|NF2_ENST00000361166.4_Missense_Mutation_p.A98V|NF2_ENST00000413209.2_Missense_Mutation_p.A98V|NF2_ENST00000361452.4_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.A98V|NF2_ENST00000353887.4_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.A56V|NF2_ENST00000334961.7_Intron	p.A98V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			3	734	+			98			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.293C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072261	0.76415	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;T;T	0.78816	-0.34;-0.34;-0.34;-0.34;-0.34;-1.21;-0.34	6.17	4.05	0.47172	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	N	0.17723	0.515	0.80722	D	1	D;D;D;D;D	0.76494	0.978;0.993;0.998;0.999;0.999	P;P;P;P;P	0.56700	0.591;0.804;0.802;0.588;0.754	T	0.72371	-0.4314	9	.	.	.	.	12.6895	0.56966	0.0:0.8207:0.1161:0.0631	.	98;98;98;56;98	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	V	98;98;98;98;98;98;56;98	ENSP00000409921:A98V;ENSP00000344666:A98V;ENSP00000384029:A98V;ENSP00000384797:A98V;ENSP00000380891:A98V;ENSP00000355183:A56V;ENSP00000354529:A98V	.	A	+	2	0	NF2	28365131	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.726000	0.84824	1.608000	0.50180	-0.176000	0.13171	GCC		0.428	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		12	67	0	0	0	1	0	12	67				
CFB	629	broad.mit.edu	37	6	31917883	31917883	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31917883G>A	ENST00000425368.2	+	11	1978	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	CFB_ENST00000477310.1_Missense_Mutation_p.D840N|CFB_ENST00000456570.1_Missense_Mutation_p.D991N|CFB_ENST00000556679.1_Missense_Mutation_p.D991N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	489	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAGGGTACCGATTACCACAA	0.502																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2971-2973)Gat>Aat		complement factor B							124.0	123.0	123.0					6																	31917883		1511	2708	4219	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917883G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1465G>A	6.37:g.31917883G>A	ENSP00000416561:p.Asp489Asn					CFB_ENST00000425368.2_Missense_Mutation_p.D489N|CFB_ENST00000477310.1_Missense_Mutation_p.D840N|CFB_ENST00000556679.1_Missense_Mutation_p.D991N	p.D991N			P00751	CFAB_HUMAN			23	3026	+			489					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2971G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395514	0.42512	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.48	3.48	0.39840	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.657438	0.14076	N	0.343085	T	0.75354	0.3838	N	0.20881	0.62	0.09310	N	1	P;B;P	0.51351	0.884;0.433;0.944	P;B;B	0.45610	0.487;0.156;0.336	T	0.67719	-0.5598	10	0.48119	T	0.1	-14.3988	11.7153	0.51650	0.0:0.4243:0.5757:0.0	.	991;489;489	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	N	991;489;991;840	ENSP00000451848:D991N;ENSP00000416561:D489N;ENSP00000410815:D991N;ENSP00000418996:D840N	ENSP00000416561:D489N	D	+	1	0	CFB;XXbac-BPG116M5.17	32025862	0.000000	0.05858	0.008000	0.14137	0.861000	0.49209	0.107000	0.15375	1.391000	0.46566	0.563000	0.77884	GAT		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		29	42	0	0	0	1	0	29	42				
IFT122	55764	broad.mit.edu	37	3	129218783	129218783	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129218783G>A	ENST00000348417.2	+	19	2324	c.2247G>A	c.(2245-2247)atG>atA	p.M749I	IFT122_ENST00000440957.2_Missense_Mutation_p.M540I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Missense_Mutation_p.M638I|IFT122_ENST00000431818.2_Missense_Mutation_p.M599I|IFT122_ENST00000507564.1_Missense_Mutation_p.M741I|IFT122_ENST00000504021.1_Missense_Mutation_p.M625I|IFT122_ENST00000347300.2_Missense_Mutation_p.M690I|IFT122_ENST00000296266.3_Missense_Mutation_p.M800I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	749					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACAAAGATGCTAATCACCA	0.493																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2398-2400)atG>atA		intraflagellar transport 122 homolog (Chlamydomonas)							109.0	112.0	111.0					3																	129218783		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129218783G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2247G>A	3.37:g.129218783G>A	ENSP00000324005:p.Met749Ile					IFT122_ENST00000349441.2_Missense_Mutation_p.M638I|IFT122_ENST00000347300.2_Missense_Mutation_p.M690I|IFT122_ENST00000348417.2_Missense_Mutation_p.M749I|IFT122_ENST00000440957.2_Missense_Mutation_p.M540I|IFT122_ENST00000504021.1_Missense_Mutation_p.M625I|IFT122_ENST00000507564.1_Missense_Mutation_p.M741I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.M599I	p.M800I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			20	2592	+			749					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2400G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969771	0.34754	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.60548	0.82;0.18;0.31;0.38;0.96;0.96;0.82;0.39;0.98	5.06	4.18	0.49190	.	0.193027	0.53938	D	0.000048	T	0.40171	0.1106	N	0.22421	0.69	0.45172	D	0.99818	B;B;B;B;B;B;B;B;B;B	0.13594	0.0;0.004;0.006;0.008;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.15052	0.001;0.012;0.004;0.012;0.0;0.001;0.002;0.002;0.001;0.001	T	0.28902	-1.0029	10	0.38643	T	0.18	-25.4898	8.7082	0.34367	0.0803:0.1528:0.7669:0.0	.	540;75;741;136;625;589;638;690;749;800	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	I	690;800;741;690;599;625;638;749;589;540;246;111	ENSP00000323973:M690I;ENSP00000296266:M800I;ENSP00000425536:M741I;ENSP00000410946:M599I;ENSP00000422179:M625I;ENSP00000324165:M638I;ENSP00000324005:M749I;ENSP00000401569:M540I;ENSP00000424727:M246I	ENSP00000296266:M800I	M	+	3	0	IFT122	130701473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	2.338000	0.79540	0.655000	0.94253	ATG		0.493	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		39	41	0	0	0	1	0	39	41				
B4GALNT4	338707	broad.mit.edu	37	11	380447	380447	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:380447T>C	ENST00000329962.6	+	18	2869		c.e18+2			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCCCCACGGTGAGGCCCCGA	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.e18+2		beta-1,4-N-acetyl-galactosaminyl transferase 4							16.0	16.0	16.0					11																	380447		2183	4248	6431	SO:0001630	splice_region_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380447T>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2869+2T>C	11.37:g.380447T>C								NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2869	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						Q96LV2	Splice_Site	SNP	ENST00000329962.6	37		CCDS7694.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.327163	0.24080	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5991	0.50993	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT4	370447	1.000000	0.71417	0.789000	0.31954	0.054000	0.15201	5.383000	0.66219	1.721000	0.51461	0.459000	0.35465	.		0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537	Intron	6	6	0	0	0	1	0	6	6				
VPS13B	157680	broad.mit.edu	37	8	100654441	100654441	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:100654441C>A	ENST00000358544.2	+	34	5809	c.5698C>A	c.(5698-5700)Ctc>Atc	p.L1900I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1875I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1900					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCAGAAGATCTCTTAAGGAG	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5698-5700)Ctc>Atc		vacuolar protein sorting 13 homolog B (yeast)							119.0	125.0	123.0					8																	100654441		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654441C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5698C>A	8.37:g.100654441C>A	ENSP00000351346:p.Leu1900Ile					VPS13B_ENST00000357162.2_Missense_Mutation_p.L1875I|VPS13B_ENST00000395996.1_3'UTR	p.L1900I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5809	+	Breast(36;3.73e-07)		1900					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5698C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959968	0.34565	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.55;-0.55	5.6	5.6	0.85130	.	0.150109	0.45126	D	0.000389	T	0.50803	0.1637	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.47114	-0.9142	10	0.19147	T	0.46	.	15.2417	0.73476	0.141:0.859:0.0:0.0	.	1875;1900	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	1875;1900	ENSP00000349685:L1875I;ENSP00000351346:L1900I	ENSP00000349685:L1875I	L	+	1	0	VPS13B	100723617	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	1.549000	0.36212	2.652000	0.90054	0.561000	0.74099	CTC		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		21	68	1	0	2.37509e-13	1	2.57931e-13	21	68				
MAPK8IP3	23162	broad.mit.edu	37	16	1793343	1793343	+	Missense_Mutation	SNP	C	C	T	rs183206340		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1793343C>T	ENST00000250894.4	+	5	767	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R204C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	204					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGGAAGGAGCGCCCCACCTC	0.642																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(610-612)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 3							41.0	45.0	44.0					16																	1793343		2052	4173	6225	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1793343C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.610C>T	16.37:g.1793343C>T	ENSP00000250894:p.Arg204Cys					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R204C	p.R204C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			5	767	+			204					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.610C>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107952	0.77096	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.37058	1.22;1.22	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.972;0.951;0.997;0.95	T	0.63497	-0.6624	10	0.66056	D	0.02	-27.3315	18.2866	0.90115	0.0:1.0:0.0:0.0	.	205;204;204;204	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	C	204	ENSP00000250894:R204C;ENSP00000348290:R204C	ENSP00000250894:R204C	R	+	1	0	MAPK8IP3	1733344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.663000	0.83820	2.408000	0.81797	0.643000	0.83706	CGC		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		17	20	0	0	0	1	0	17	20				
UBXN1	51035	broad.mit.edu	37	11	62445452	62445452	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62445452C>T	ENST00000301935.5	-	5	595	c.429G>A	c.(427-429)atG>atA	p.M143I	UBXN1_ENST00000294119.2_Missense_Mutation_p.M143I|UBXN1_ENST00000529640.1_Missense_Mutation_p.M143I|UBXN1_ENST00000533000.1_Start_Codon_SNP_p.M1I|UBXN1_ENST00000524762.1_5'UTR			Q04323	UBXN1_HUMAN	UBX domain protein 1	143	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						CAGCCCGGCGCATCTCATCTT	0.567																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(427-429)atG>atA		UBX domain protein 1							72.0	61.0	64.0					11																	62445452		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445452C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.429G>A	11.37:g.62445452C>T	ENSP00000303991:p.Met143Ile					UBXN1_ENST00000301935.5_Missense_Mutation_p.M143I|UBXN1_ENST00000533000.1_Start_Codon_SNP_p.M1I|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.M143I	p.M143I	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			5	560	-			143			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.429G>A		.	.	.	.	.	.	.	.	.	.	C	18.77	3.695751	0.68386	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.23348	1.91;1.96;1.97;1.96	5.31	4.39	0.52855	.	0.067875	0.85682	N	0.000000	T	0.30324	0.0761	N	0.16368	0.405	0.53688	D	0.999973	B;P;P;B	0.49447	0.0;0.924;0.675;0.003	B;P;B;B	0.60682	0.001;0.878;0.091;0.003	T	0.06679	-1.0813	10	0.39692	T	0.17	-13.9416	12.8602	0.57910	0.0:0.9181:0.0:0.0819	.	143;143;143;143	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	I	143;143;1;46;143;143	ENSP00000294119:M143I;ENSP00000303991:M143I;ENSP00000435964:M143I;ENSP00000435625:M143I	ENSP00000294119:M143I	M	-	3	0	UBXN1	62202028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.527000	0.53517	1.540000	0.49301	0.561000	0.74099	ATG		0.567	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		9	19	0	0	0	1	0	9	19				
POLR1B	84172	broad.mit.edu	37	2	113333173	113333173	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113333173G>A	ENST00000263331.5	+	15	3855	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R1130H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R1036H|POLR1B_ENST00000409894.3_Missense_Mutation_p.R909H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R881H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1092					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R1092H(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCTGCCATGCGCAACAGAAAA	0.478																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			1	Substitution - Missense(1)	p.R1092H(1)	endometrium(1)	breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3274-3276)cGc>cAc		polymerase (RNA) I polypeptide B, 128kDa							138.0	116.0	123.0					2																	113333173		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113333173G>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3275G>A	2.37:g.113333173G>A	ENSP00000263331:p.Arg1092His					POLR1B_ENST00000541869.1_Missense_Mutation_p.R1130H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R1036H|POLR1B_ENST00000537335.1_Missense_Mutation_p.R881H|POLR1B_ENST00000409894.3_Missense_Mutation_p.R909H	p.R1092H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3855	+			1092					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.3275G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038953	0.93630	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.38	5.38	0.77491	RNA polymerase Rpb2, domain 7 (1);	0.092126	0.85682	D	0.000000	D	0.86900	0.6044	M	0.65320	2	0.80722	D	1	D;D;B;D	0.89917	0.998;1.0;0.349;0.995	P;D;B;P	0.83275	0.817;0.996;0.052;0.836	D	0.87691	0.2554	10	0.66056	D	0.02	-21.9707	17.9263	0.88985	0.0:0.0:1.0:0.0	.	1130;909;1036;1092	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	H	1092;1130;909;881;1036	ENSP00000263331:R1092H;ENSP00000444136:R1130H;ENSP00000387143:R909H;ENSP00000437914:R881H;ENSP00000405358:R1036H	ENSP00000263331:R1092H	R	+	2	0	POLR1B	113049644	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.379000	0.97198	2.512000	0.84698	0.563000	0.77884	CGC		0.478	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		19	72	0	0	0	1	0	19	72				
GBA	2629	broad.mit.edu	37	1	155206159	155206159	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155206159G>A	ENST00000327247.5	-	9	1333	c.1101C>T	c.(1099-1101)caC>caT	p.H367H	GBA_ENST00000493842.1_5'Flank|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000427500.3_Silent_p.H318H|GBA_ENST00000536770.1_Silent_p.H254H|GBA_ENST00000368373.3_Silent_p.H367H|GBA_ENST00000428024.3_Silent_p.H280H	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	367					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGAACAGGCGGTGTGTCTCCC	0.562									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(838-840)caC>caT		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						87.0	76.0	79.0					1																	155206159		2203	4300	6503	SO:0001819	synonymous_variant	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155206159G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1101C>T	1.37:g.155206159G>A						GBA_ENST00000368373.3_Silent_p.H367H|GBA_ENST00000327247.5_Silent_p.H367H|GBA_ENST00000427500.2_Silent_p.H318H|GBA_ENST00000536770.1_Silent_p.H254H	p.H280H	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1342	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		367					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	c.840C>T	CCDS1102.1																																																																																				0.562	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		5	25	0	0	0	1	0	5	25				
TMC2	117532	broad.mit.edu	37	20	2552882	2552882	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:2552882G>T	ENST00000358864.1	+	5	627	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	204	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAAGGCAAGCAACTATATG	0.493																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(610-612)aaG>aaT		transmembrane channel-like 2							119.0	112.0	114.0					20																	2552882		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2552882G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.612G>T	20.37:g.2552882G>T	ENSP00000351732:p.Lys204Asn						p.K204N	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			5	627	+			204			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.612G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931235	0.52866	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	5.16	0.958	0.19619	.	0.090050	0.85682	N	0.000000	T	0.56891	0.2016	M	0.63428	1.95	0.34650	D	0.721557	D;D;D;D	0.76494	0.977;0.987;0.999;0.999	P;P;D;D	0.72982	0.821;0.584;0.979;0.971	T	0.62388	-0.6865	10	0.66056	D	0.02	-22.9794	4.4993	0.11856	0.3517:0.1557:0.4926:0.0	.	35;36;204;204	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	N	204	ENSP00000351732:K204N	ENSP00000351732:K204N	K	+	3	2	TMC2	2500882	1.000000	0.71417	0.137000	0.22149	0.717000	0.41224	1.127000	0.31357	0.024000	0.15214	0.655000	0.94253	AAG		0.493	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			16	26	1	0	3.99206e-14	1	4.34914e-14	16	26				
KIF19	124602	broad.mit.edu	37	17	72347026	72347026	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72347026G>A	ENST00000389916.4	+	12	1707	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	AC103809.2_ENST00000599136.1_Silent_p.C95C	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	523					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGAGCAGAAGCAACTGCGCA	0.622																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1567-1569)aaG>aaA		kinesin family member 19							102.0	104.0	103.0					17																	72347026		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72347026G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1569G>A	17.37:g.72347026G>A						AC103809.2_ENST00000599136.1_Silent_p.C95C	p.K523K	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			12	1707	+			523					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1569G>A	CCDS32718.2																																																																																				0.622	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		29	48	0	0	0	1	0	29	48				
CYP4A22	284541	broad.mit.edu	37	1	47610471	47610471	+	Intron	SNP	C	C	T	rs201773150	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47610471C>T	ENST00000371891.3	+	9	1119				CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Intron|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P253S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCTGGTCTGCCCAGGCCTTG	0.587																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371890.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(757-759)Ccc>Tcc		cytochrome P450, family 4, subfamily A, polypeptide 22							15.0	15.0	15.0					1																	47610471		2202	4276	6478	SO:0001627	intron_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610471C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1089-38C>T	1.37:g.47610471C>T						CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371891.3_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.P253S			Q5TCH4	CP4AM_HUMAN			7	793	+			510					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.757C>T	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	2.412	-0.335043	0.05278	.	.	ENSG00000162365	ENST00000371890	T	0.71461	-0.57	1.28	-2.45	0.06481	.	.	.	.	.	T	0.50599	0.1625	.	.	.	0.09310	N	1	B	0.19445	0.036	B	0.06405	0.002	T	0.38950	-0.9637	8	0.87932	D	0	.	0.5204	0.00611	0.2391:0.3327:0.2379:0.1903	.	253	Q5TCH5	.	S	253	ENSP00000360957:P253S	ENSP00000360957:P253S	P	+	1	0	CYP4A22	47383058	0.000000	0.05858	0.004000	0.12327	0.174000	0.22865	-0.386000	0.07370	-0.931000	0.03746	0.194000	0.17425	CCC		0.587	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		9	4	0	0	0	1	0	9	4				
NR2C1	7181	broad.mit.edu	37	12	95456330	95456330	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:95456330T>C	ENST00000333003.5	-	3	569	c.239A>G	c.(238-240)aAc>aGc	p.N80S	NR2C1_ENST00000330677.7_Missense_Mutation_p.N80S|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.N80S	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	80	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAATAACTGGTTGACACCTGC	0.398																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(238-240)aAc>aGc		nuclear receptor subfamily 2, group C, member 1							77.0	70.0	72.0					12																	95456330		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95456330T>C	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.239A>G	12.37:g.95456330T>C	ENSP00000333275:p.Asn80Ser					NR2C1_ENST00000393101.3_Missense_Mutation_p.N80S|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.N80S	p.N80S	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			3	569	-			80			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.239A>G	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691966	0.48097	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.91068	-2.78;-2.49;-2.5	5.58	4.43	0.53597	.	0.039495	0.85682	D	0.000000	D	0.91981	0.7460	L	0.48362	1.52	0.53005	D	0.999967	D;B;P;B	0.69078	0.997;0.031;0.577;0.005	D;B;B;B	0.70716	0.97;0.021;0.121;0.004	D	0.88725	0.3232	10	0.15066	T	0.55	.	13.0733	0.59074	0.0:0.0:0.1343:0.8657	.	80;80;80;80	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	S	80	ENSP00000333275:N80S;ENSP00000376813:N80S;ENSP00000328843:N80S	ENSP00000328843:N80S	N	-	2	0	NR2C1	93980461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.893000	0.69798	1.028000	0.39785	0.533000	0.62120	AAC		0.398	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		12	17	0	0	0	1	0	12	17				
MED13L	23389	broad.mit.edu	37	12	116429262	116429262	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:116429262G>A	ENST00000281928.3	-	17	3703	c.3497C>T	c.(3496-3498)gCg>gTg	p.A1166V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1166						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTCATAATCGCACTAAACCC	0.473																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(3496-3498)gCg>gTg		mediator complex subunit 13-like							80.0	73.0	75.0					12																	116429262		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429262G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3497C>T	12.37:g.116429262G>A	ENSP00000281928:p.Ala1166Val						p.A1166V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3703	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1166					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3497C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304550	0.81136	.	.	ENSG00000123066	ENST00000281928	D	0.85088	-1.94	5.35	5.35	0.76521	.	0.048809	0.85682	D	0.000000	D	0.92087	0.7492	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92424	0.5948	10	0.87932	D	0	.	19.2467	0.93905	0.0:0.0:1.0:0.0	.	1166	Q71F56	MD13L_HUMAN	V	1166	ENSP00000281928:A1166V	ENSP00000281928:A1166V	A	-	2	0	MED13L	114913645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.784000	0.95788	0.585000	0.79938	GCG		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			40	56	0	0	0	1	0	40	56				
CFTR	1080	broad.mit.edu	37	7	117182148	117182148	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117182148G>A	ENST00000003084.6	+	9	1327	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	CFTR_ENST00000454343.1_Missense_Mutation_p.A399T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	399					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAATGTAACAGCCTTCTGGGA	0.318									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1195-1197)Gcc>Acc		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						44.0	44.0	44.0					7																	117182148		2202	4296	6498	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117182148G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1195G>A	7.37:g.117182148G>A	ENSP00000003084:p.Ala399Thr					CFTR_ENST00000454343.1_Missense_Mutation_p.A399T	p.A399T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		9	1327	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		399					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1195G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227930	0.95173	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92595	-3.01;-2.84;-3.07	5.62	5.62	0.85841	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.87381	2.88	0.52501	D	0.999951	D	0.57571	0.98	P	0.54856	0.762	D	0.94746	0.7923	10	0.40728	T	0.16	-13.5276	20.0205	0.97499	0.0:0.0:1.0:0.0	.	399	P13569	CFTR_HUMAN	T	399;399;369	ENSP00000003084:A399T;ENSP00000403677:A399T;ENSP00000389119:A369T	ENSP00000003084:A399T	A	+	1	0	CFTR	116969384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.820000	0.92003	2.801000	0.96364	0.650000	0.86243	GCC		0.318	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		20	27	0	0	0	1	0	20	27				
UGT2B10	7365	broad.mit.edu	37	4	69696393	69696393	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69696393C>A	ENST00000265403.7	+	6	1410	c.1383C>A	c.(1381-1383)ttC>ttA	p.F461L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F377L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	461					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCAGTCTTCTGGATTGAAT	0.418																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1381-1383)ttC>ttA		UDP glucuronosyltransferase 2 family, polypeptide B10							137.0	136.0	136.0					4																	69696393		2203	4297	6500	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696393C>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1383C>A	4.37:g.69696393C>A	ENSP00000265403:p.Phe461Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F377L	p.F461L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			6	1410	+			461					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1383C>A		.	.	.	.	.	.	.	.	.	.	c	12.12	1.843087	0.32606	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.70986	-0.53;-0.53	2.43	1.57	0.23409	.	0.078254	0.51477	U	0.000085	D	0.85057	0.5610	H	0.95574	3.69	0.25917	N	0.983166	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.74844	-0.3526	10	0.87932	D	0	.	4.6408	0.12548	0.0:0.6766:0.0:0.3234	.	377;461	B4DPP1;P36537	.;UDB10_HUMAN	L	461;377	ENSP00000265403:F461L;ENSP00000413420:F377L	ENSP00000265403:F461L	F	+	3	2	UGT2B10	69730982	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	3.140000	0.50585	0.240000	0.21263	-1.111000	0.02071	TTC		0.418	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		59	89	1	0	1.33661e-31	1	1.49889e-31	59	89				
CTSW	1521	broad.mit.edu	37	11	65649991	65649991	+	Missense_Mutation	SNP	G	G	A	rs140048610	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65649991G>A	ENST00000307886.3	+	5	578	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CTSW_ENST00000528419.1_Missense_Mutation_p.V178M	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	178					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GGATGTCTCCGTGCAGGGTAG	0.607																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(532-534)Gtg>Atg		cathepsin W		G	MET/VAL	0,4402		0,0,2201	93.0	93.0	93.0		532	3.5	0.9	11	dbSNP_134	93	1,8591	1.2+/-3.3	0,1,4295	no	missense	CTSW	NM_001335.3	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	178/377	65649991	1,12993	2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65649991G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.532G>A	11.37:g.65649991G>A	ENSP00000311300:p.Val178Met					CTSW_ENST00000307886.3_Missense_Mutation_p.V178M	p.V178M			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	5	536	+			178					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.532G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362514	0.24684	0.0	1.16E-4	ENSG00000172543	ENST00000307886;ENST00000528419;ENST00000526034	T;T;T	0.31510	1.49;1.49;1.49	5.39	3.5	0.40072	Peptidase C1A, papain C-terminal (2);	0.426220	0.22121	N	0.064331	T	0.45013	0.1321	M	0.62266	1.93	0.26274	N	0.978374	D;D	0.64830	0.964;0.994	P;P	0.60886	0.75;0.88	T	0.24368	-1.0162	10	0.66056	D	0.02	.	8.8321	0.35091	0.1835:0.0:0.8165:0.0	.	178;178	P56202;E9PI30	CATW_HUMAN;.	M	178;178;177	ENSP00000311300:V178M;ENSP00000436568:V178M;ENSP00000434267:V177M	ENSP00000311300:V178M	V	+	1	0	CTSW	65406567	0.963000	0.33076	0.895000	0.35142	0.127000	0.20565	1.710000	0.37920	1.414000	0.47017	0.655000	0.94253	GTG		0.607	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		15	22	0	0	0	1	0	15	22				
MYO7B	4648	broad.mit.edu	37	2	128391775	128391775	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128391775C>T	ENST00000409816.2	+	39	5490	c.5458C>T	c.(5458-5460)Cgg>Tgg	p.R1820W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R1821W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1820W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1820	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAACACACGGGTGCGGGA	0.637																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(5461-5463)Cgg>Tgg		myosin VIIB							25.0	29.0	27.0					2																	128391775		2018	4175	6193	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128391775C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5458C>T	2.37:g.128391775C>T	ENSP00000386461:p.Arg1820Trp					MYO7B_ENST00000428314.1_Missense_Mutation_p.R1820W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1820W|MYO7B_ENST00000409090.1_Missense_Mutation_p.R673W	p.R1821W			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	40	5514	+	Colorectal(110;0.1)		1820			FERM 2.|MyTH4 3.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5461C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	16.37	3.103369	0.56291	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.14	4.17	0.49024	Band 4.1 domain (1);FERM domain (1);	0.220425	0.39083	N	0.001473	D	0.83644	0.5299	M	0.77486	2.375	0.37300	D	0.908654	D	0.89917	1.0	D	0.68483	0.958	D	0.86779	0.1978	10	0.66056	D	0.02	.	10.4838	0.44708	0.4442:0.5558:0.0:0.0	.	1820	Q6PIF6	MYO7B_HUMAN	W	1821;1820;916;1820;673	ENSP00000374175:R1821W;ENSP00000415090:R1820W;ENSP00000386461:R1820W;ENSP00000386850:R673W	ENSP00000272666:R916W	R	+	1	2	MYO7B	128108245	1.000000	0.71417	0.909000	0.35828	0.244000	0.25665	5.288000	0.65651	2.386000	0.81285	0.556000	0.70494	CGG		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	4	0	0	0	1	0	3	4				
OR8J3	81168	broad.mit.edu	37	11	55904809	55904809	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55904809G>A	ENST00000301529.1	-	1	385	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTAGAGCAGAGGGTTACAAAT	0.512																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(385-387)cCt>cTt		olfactory receptor, family 8, subfamily J, member 3							140.0	130.0	134.0					11																	55904809		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904809G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.386C>T	11.37:g.55904809G>A	ENSP00000301529:p.Pro129Leu						p.P129L	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	385	-	Esophageal squamous(21;0.00693)		129					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.386C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122599	0.77436	.	.	ENSG00000167822	ENST00000301529	T	0.01902	4.57	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.096591	0.46442	D	0.000287	T	0.18341	0.0440	H	0.94582	3.555	0.46044	D	0.998837	D	0.89917	1.0	D	0.97110	1.0	T	0.24404	-1.0161	10	0.87932	D	0	.	14.4534	0.67401	0.0:0.0:1.0:0.0	.	129	Q8NGG0	OR8J3_HUMAN	L	129	ENSP00000301529:P129L	ENSP00000301529:P129L	P	-	2	0	OR8J3	55661385	1.000000	0.71417	0.971000	0.41717	0.794000	0.44872	8.079000	0.89508	1.548000	0.49413	0.289000	0.19496	CCT		0.512	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		20	61	0	0	0	1	0	20	61				
DOCK2	1794	broad.mit.edu	37	5	169474577	169474577	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:169474577G>A	ENST00000256935.8	+	40	4110	c.4030G>A	c.(4030-4032)Gct>Act	p.A1344T	DOCK2_ENST00000520908.1_Missense_Mutation_p.A836T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A405T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1344	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACTACTTTGCTGTTGGATA	0.522																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4030-4032)Gct>Act		dedicator of cytokinesis 2							96.0	94.0	95.0					5																	169474577		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474577G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4030G>A	5.37:g.169474577G>A	ENSP00000256935:p.Ala1344Thr					DOCK2_ENST00000520908.1_Missense_Mutation_p.A836T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A405T	p.A1344T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4110	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1344			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4030G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732602	0.89482	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08634	3.72;3.36;3.07	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.82630	2.6	0.41391	D	0.987614	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.971	T	0.29610	-1.0006	10	0.72032	D	0.01	.	16.2643	0.82568	0.0:0.1329:0.8671:0.0	.	836;1344	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1344;836;405	ENSP00000256935:A1344T;ENSP00000429283:A836T;ENSP00000438827:A405T	ENSP00000256935:A1344T	A	+	1	0	DOCK2	169407155	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	9.869000	0.99810	1.278000	0.44430	0.655000	0.94253	GCT		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		24	38	0	0	0	1	0	24	38				
TET2	54790	broad.mit.edu	37	4	106156139	106156139	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:106156139C>T	ENST00000540549.1	+	3	1900	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	TET2_ENST00000380013.4_Missense_Mutation_p.A347V|TET2_ENST00000513237.1_Missense_Mutation_p.A368V|TET2_ENST00000305737.2_Missense_Mutation_p.A347V|TET2_ENST00000394764.1_Missense_Mutation_p.A347V|TET2_ENST00000413648.2_Missense_Mutation_p.A347V|TET2_ENST00000545826.1_Missense_Mutation_p.A347V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	347					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAAAGCTAGCGTCTGGTGAA	0.413			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1102-1104)gCg>gTg		tet methylcytosine dioxygenase 2							64.0	60.0	61.0					4																	106156139		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156139C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1040C>T	4.37:g.106156139C>T	ENSP00000442788:p.Ala347Val					TET2_ENST00000413648.2_Missense_Mutation_p.A347V|TET2_ENST00000545826.1_Missense_Mutation_p.A347V|TET2_ENST00000394764.1_Missense_Mutation_p.A347V|TET2_ENST00000305737.2_Missense_Mutation_p.A347V|TET2_ENST00000540549.1_Missense_Mutation_p.A347V|TET2_ENST00000380013.4_Missense_Mutation_p.A347V	p.A368V			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1900	+		Myeloproliferative disorder(5;0.0393)	347					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1103C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	1.659	-0.512036	0.04200	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.02890	4.13;4.73;4.12;4.72;4.73;4.13;4.13	4.98	-5.59	0.02505	.	33.584800	0.00166	N	0.000000	T	0.00967	0.0032	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40869	-0.9540	10	0.02654	T	1	.	1.7618	0.02994	0.1347:0.31:0.1273:0.4281	.	368;347;347	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	V	347;347;347;368;347;347;347;347	ENSP00000306705:A347V;ENSP00000442788:A347V;ENSP00000442867:A347V;ENSP00000425443:A368V;ENSP00000369351:A347V;ENSP00000378245:A347V;ENSP00000391448:A347V	ENSP00000265149:A347V	A	+	2	0	TET2	106375588	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-0.159000	0.10056	-1.169000	0.02772	-0.290000	0.09829	GCG		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		15	28	0	0	0	1	0	15	28				
IGFBP1	3484	broad.mit.edu	37	7	45932601	45932601	+	Missense_Mutation	SNP	G	G	A	rs370766303		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:45932601G>A	ENST00000275525.3	+	4	987	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	IGFBP1_ENST00000457280.1_Missense_Mutation_p.V229I|IGFBP1_ENST00000468955.1_Missense_Mutation_p.V188I	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	231	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						CTGCTGGTGCGTCTACCCTTG	0.498																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(691-693)Gtc>Atc		insulin-like growth factor binding protein 1		G	ILE/VAL	0,4406		0,0,2203	82.0	77.0	79.0		691	5.7	1.0	7		79	2,8598	1.2+/-3.3	0,2,4298	no	missense	IGFBP1	NM_000596.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	231/260	45932601	2,13004	2203	4300	6503	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45932601G>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.691G>A	7.37:g.45932601G>A	ENSP00000275525:p.Val231Ile					IGFBP1_ENST00000468955.1_Missense_Mutation_p.V188I|IGFBP1_ENST00000457280.1_Missense_Mutation_p.V229I	p.V231I	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			4	987	+			231			Thyroglobulin type-1.		A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.691G>A	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445195	0.83993	0.0	2.33E-4	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.79352	-1.26;-1.26;-1.26	5.74	5.74	0.90152	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.92266	0.5821	10	0.87932	D	0	-39.8399	17.3914	0.87432	0.0:0.0:1.0:0.0	.	188;231;229	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	I	231;229;188	ENSP00000275525:V231I;ENSP00000413511:V229I;ENSP00000417069:V188I	ENSP00000275525:V231I	V	+	1	0	IGFBP1	45899126	1.000000	0.71417	0.987000	0.45799	0.469000	0.32828	8.101000	0.89546	2.710000	0.92621	0.591000	0.81541	GTC		0.498	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		21	30	0	0	0	1	0	21	30				
LPHN2	23266	broad.mit.edu	37	1	82456574	82456574	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:82456574G>A	ENST00000370728.1	+	25	4770	c.4125G>A	c.(4123-4125)atG>atA	p.M1375I	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1332I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1347I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1332I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1319I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1390I|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1390I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1347I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1319I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1300I			O95490	LPHN2_HUMAN	latrophilin 2	1375					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATACAAGCATGCCCAATCTTA	0.493																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(4123-4125)atG>atA		latrophilin 2							89.0	86.0	87.0					1																	82456574		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456574G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4125G>A	1.37:g.82456574G>A	ENSP00000359763:p.Met1375Ile					LPHN2_ENST00000359929.3_Missense_Mutation_p.M1319I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1332I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1319I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M1332I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1377I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1300I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1347I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1390I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1347I|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1390I	p.M1375I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	25	4770	+			1375					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.4125G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.37|12.37|12.37	1.917579|1.917579|1.917579	0.33815|0.33815|0.33815	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.|T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.71817	.|.|-0.44;-0.46;-0.6;-0.54;-0.39;-0.35;-0.54;-0.54;-0.39;-0.35;-0.54;-0.6	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.74137|0.74137|0.74137	0.3677|0.3677|0.3677	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;P	.|.|0.49559	.|.|0.036;0.925	.|.|B;D	.|.|0.65140	.|.|0.034;0.932	T|T|T	0.68796|0.68796|0.68796	-0.5314|-0.5314|-0.5314	5|5|10	.|.|0.22706	.|.|T	.|.|0.39	.|.|.	18.8839|18.8839|18.8839	0.92367|0.92367|0.92367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1319;299	.|.|O95490-2;B3KVU1	.|.|.;.	T|Y|I	387|1267|1300;1375;1332;1347;1390;1377;1319;1319;1390;1377;1347;1332	.|.|ENSP00000359756:M1300I;ENSP00000359763:M1375I;ENSP00000359765:M1332I;ENSP00000359762:M1347I;ENSP00000359760:M1390I;ENSP00000359758:M1377I;ENSP00000353006:M1319I;ENSP00000322270:M1319I;ENSP00000359752:M1390I;ENSP00000378344:M1377I;ENSP00000271029:M1347I;ENSP00000337306:M1332I	.|.|ENSP00000271029:M1347I	A|C|M	+|+|+	1|2|3	0|0|0	LPHN2|LPHN2|LPHN2	82229162|82229162|82229162	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	7.260000|7.260000|7.260000	0.78391|0.78391|0.78391	2.467000|2.467000|2.467000	0.83353|0.83353|0.83353	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|TGC|ATG		0.493	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		15	29	0	0	0	1	0	15	29				
IPO5	3843	broad.mit.edu	37	13	98645159	98645159	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:98645159C>T	ENST00000490680.1	+	7	748	c.683C>T	c.(682-684)tCg>tTg	p.S228L	IPO5_ENST00000261574.5_Missense_Mutation_p.S246L|IPO5_ENST00000539640.1_Missense_Mutation_p.S103L			O00410	IPO5_HUMAN	importin 5	228					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTAAATGACTCGTGCTACCAG	0.408																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(736-738)tCg>tTg		importin 5							139.0	129.0	133.0					13																	98645159		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98645159C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.683C>T	13.37:g.98645159C>T	ENSP00000418393:p.Ser228Leu					IPO5_ENST00000539640.1_Missense_Mutation_p.S103L|IPO5_ENST00000490680.1_Missense_Mutation_p.S228L	p.S246L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			10	917	+			228					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.737C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.817787|4.817787	0.90790|0.90790	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.70045	.|-0.45;-0.45;-0.45;-0.45	6.17|6.17	5.33|5.33	0.75918|0.75918	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72574|0.72574	0.3477|0.3477	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.982;0.99	.|P;P;P	.|0.61275	.|0.886;0.656;0.814	T|T	0.75855|0.75855	-0.3170|-0.3170	5|10	.|0.72032	.|D	.|0.01	-26.6872|-26.6872	15.327|15.327	0.74172|0.74172	0.0:0.9337:0.0:0.0663|0.0:0.9337:0.0:0.0663	.|.	.|103;228;246	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	C|L	230|246;228;228;103	.|ENSP00000261574:S246L;ENSP00000350219:S228L;ENSP00000418393:S228L;ENSP00000445126:S103L	.|ENSP00000261574:S246L	R|S	+|+	1|2	0|0	IPO5|IPO5	97443160|97443160	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.992000|0.992000	0.81027|0.81027	7.248000|7.248000	0.78268|0.78268	1.620000|1.620000	0.50308|0.50308	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		32	54	0	0	0	1	0	32	54				
WDR76	79968	broad.mit.edu	37	15	44149354	44149354	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44149354G>A	ENST00000263795.6	+	10	1472	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	WDR76_ENST00000381246.2_Missense_Mutation_p.G404R	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	468										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATCACTGCCGGATTGAGGTA	0.343																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1402-1404)Gga>Aga		WD repeat domain 76							65.0	63.0	63.0					15																	44149354		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44149354G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1402G>A	15.37:g.44149354G>A	ENSP00000263795:p.Gly468Arg					WDR76_ENST00000381246.2_Missense_Mutation_p.G404R	p.G468R	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	10	1472	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	468					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1402G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803977	0.70682	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.69685	-0.42;-0.42	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.053879	0.64402	D	0.000001	D	0.82582	0.5068	M	0.83692	2.655	0.50313	D	0.999869	D	0.89917	1.0	D	0.69307	0.963	D	0.83745	0.0206	10	0.56958	D	0.05	-19.9088	16.7942	0.85597	0.0:0.0:1.0:0.0	.	468	Q9H967	WDR76_HUMAN	R	468;404	ENSP00000263795:G468R;ENSP00000370645:G404R	ENSP00000263795:G468R	G	+	1	0	WDR76	41936646	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	6.823000	0.75282	2.820000	0.97059	0.650000	0.86243	GGA		0.343	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		20	40	0	0	0	1	0	20	40				
CLEC16A	23274	broad.mit.edu	37	16	11063092	11063092	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:11063092G>A	ENST00000409790.1	+	4	648	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A140T	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGAGATTATGGCCTATTATAT	0.348																																						ENST00000409790.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(418-420)Gcc>Acc		C-type lectin domain family 16, member A							107.0	98.0	101.0					16																	11063092		1839	4078	5917	SO:0001583	missense	23274							g.chr16:11063092G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.418G>A	16.37:g.11063092G>A	ENSP00000387122:p.Ala140Thr					CLEC16A_ENST00000409552.3_Missense_Mutation_p.A140T	p.A140T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			4	648	+			140						Missense_Mutation	SNP	ENST00000409790.1	37	c.418G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356048	0.95854	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.51071	0.72	5.49	5.49	0.81192	.	0.049866	0.85682	D	0.000000	T	0.66858	0.2832	M	0.70275	2.135	0.80722	D	1	D;P	0.56287	0.975;0.933	P;P	0.61592	0.891;0.597	T	0.68247	-0.5459	10	0.56958	D	0.05	-14.4146	18.3811	0.90451	0.0:0.0:1.0:0.0	.	140;140	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	T	140	ENSP00000387122:A140T	ENSP00000386495:A140T	A	+	1	0	CLEC16A	10970593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.583000	0.87209	0.655000	0.94253	GCC		0.348	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		15	22	0	0	0	1	0	15	22				
DICER1	23405	broad.mit.edu	37	14	95571527	95571527	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:95571527T>C	ENST00000526495.1	-	22	3441	c.3150A>G	c.(3148-3150)aaA>aaG	p.K1050K	DICER1_ENST00000527414.1_Silent_p.K1050K|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_Silent_p.K1050K|DICER1_ENST00000393063.1_Silent_p.K1050K|DICER1_ENST00000343455.3_Silent_p.K1050K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1050					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GACAAACAGCTTTTCTCCACA	0.478			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3148-3150)aaA>aaG		dicer 1, ribonuclease type III							155.0	156.0	156.0					14																	95571527		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571527T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3150A>G	14.37:g.95571527T>C						DICER1_ENST00000343455.3_Silent_p.K1050K|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000393063.1_Silent_p.K1050K|DICER1_ENST00000527414.1_Silent_p.K1050K|DICER1_ENST00000541352.1_Silent_p.K1050K	p.K1050K			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3441	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1050					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3150A>G	CCDS9931.1																																																																																				0.478	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			45	69	0	0	0	1	0	45	69				
ALPK1	80216	broad.mit.edu	37	4	113350345	113350345	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:113350345C>T	ENST00000458497.1	+	10	1115	c.836C>T	c.(835-837)gCa>gTa	p.A279V	ALPK1_ENST00000504176.2_Missense_Mutation_p.A201V|ALPK1_ENST00000177648.9_Missense_Mutation_p.A279V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	279							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTGTCCGCTGCAGAAGCCTGC	0.517																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(835-837)gCa>gTa		alpha-kinase 1							134.0	140.0	138.0					4																	113350345		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113350345C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.836C>T	4.37:g.113350345C>T	ENSP00000398048:p.Ala279Val					ALPK1_ENST00000504176.2_Missense_Mutation_p.A201V|ALPK1_ENST00000177648.9_Missense_Mutation_p.A279V	p.A279V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1115	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	279					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.836C>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313871	0.97467	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.36520	1.25;1.25;1.25	5.42	5.42	0.78866	.	0.058123	0.64402	D	0.000002	T	0.61098	0.2320	M	0.77820	2.39	0.45914	D	0.998759	D;D;D	0.63046	0.992;0.989;0.986	P;P;P	0.61592	0.891;0.832;0.78	T	0.65643	-0.6118	10	0.87932	D	0	-16.2156	19.2345	0.93853	0.0:1.0:0.0:0.0	.	201;201;279	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	V	279;279;201	ENSP00000398048:A279V;ENSP00000177648:A279V;ENSP00000426044:A201V	ENSP00000177648:A279V	A	+	2	0	ALPK1	113569794	1.000000	0.71417	0.443000	0.26883	0.874000	0.50279	6.368000	0.73104	2.550000	0.86006	0.655000	0.94253	GCA		0.517	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		61	102	0	0	0	1	0	61	102				
TTI1	9675	broad.mit.edu	37	20	36641108	36641108	+	Missense_Mutation	SNP	C	C	T	rs372043570		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36641108C>T	ENST00000373448.2	-	3	1349	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	TTI1_ENST00000449821.1_Missense_Mutation_p.A371T|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.A371T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	371					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGATGTCAGCGAGGGCTTTG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1111-1113)Gct>Act		TELO2 interacting protein 1							157.0	160.0	159.0					20																	36641108		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641108C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1111G>A	20.37:g.36641108C>T	ENSP00000362547:p.Ala371Thr					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.A371T|TTI1_ENST00000449821.1_Missense_Mutation_p.A371T	p.A371T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1349	-			371					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1111G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	2.618	-0.289333	0.05605	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13307	2.6;2.6;2.6	5.64	1.58	0.23477	Armadillo-like helical (1);Armadillo-type fold (1);	0.262306	0.44688	N	0.000425	T	0.10680	0.0261	L	0.48877	1.53	0.32084	N	0.59272	B	0.06786	0.001	B	0.04013	0.001	T	0.24941	-1.0146	10	0.13470	T	0.59	-7.3339	9.9958	0.41898	0.0:0.7243:0.0:0.2757	.	371	O43156	TTI1_HUMAN	T	371	ENSP00000362547:A371T;ENSP00000362546:A371T;ENSP00000407270:A371T	ENSP00000362546:A371T	A	-	1	0	TTI1	36074522	0.128000	0.22383	0.661000	0.29709	0.311000	0.27955	0.506000	0.22658	0.504000	0.28082	-0.133000	0.14855	GCT		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		47	69	0	0	0	1	0	47	69				
EMB	133418	broad.mit.edu	37	5	49724057	49724057	+	Silent	SNP	C	C	T	rs112602380	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:49724057C>T	ENST00000303221.5	-	2	332	c.117G>A	c.(115-117)tcG>tcA	p.S39S	EMB_ENST00000514111.1_5'UTR|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S39S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	39					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTGTAAAAGGCGAATCTATAA	0.328													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17130	0.001		0.0	False		,,,				2504	0.0					ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(115-117)tcG>tcA		embigin							92.0	92.0	92.0					5																	49724057		2203	4300	6503	SO:0001819	synonymous_variant	133418					integral to membrane		g.chr5:49724057C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.117G>A	5.37:g.49724057C>T						EMB_ENST00000514111.1_5'UTR|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Silent_p.S39S	p.S39S	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			2	332	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	39					B7Z6S3|B7Z902	Silent	SNP	ENST00000303221.5	37	c.117G>A	CCDS3953.1																																																																																				0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		12	23	0	0	0	1	0	12	23				
NDUFA5	4698	broad.mit.edu	37	7	123190561	123190561	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:123190561T>G	ENST00000355749.2	-	3	605	c.146A>C	c.(145-147)gAa>gCa	p.E49A	NDUFA5_ENST00000471770.1_Missense_Mutation_p.E49A|NDUFA5_ENST00000467117.1_5'UTR	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	49					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						TGTAATCTGTTCTGTATACTT	0.333																																						ENST00000471770.1																			0				large_intestine(1)|urinary_tract(1)	2						c.(145-147)gAa>gCa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	NADH(DB00157)						109.0	117.0	114.0					7																	123190561		2203	4299	6502	SO:0001583	missense	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123190561T>G		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.146A>C	7.37:g.123190561T>G	ENSP00000347988:p.Glu49Ala					NDUFA5_ENST00000355749.2_Missense_Mutation_p.E49A|NDUFA5_ENST00000467117.1_5'UTR	p.E49A			Q16718	NDUA5_HUMAN			3	280	-			49					B2RD98|Q5H9R2|Q6IRX7	Missense_Mutation	SNP	ENST00000355749.2	37	c.146A>C	CCDS5788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.732605|4.732605	0.89482|0.89482	.|.	.|.	ENSG00000128609|ENSG00000128609	ENST00000471770;ENST00000355749;ENST00000470123|ENST00000378795	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|.	.|.	.|.	.|.	D|D	0.86268|0.86268	0.5892|0.5892	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.69479|.	0.964|.	D|D	0.90091|0.90091	0.4177|0.4177	8|5	0.87932|.	D|.	0|.	.|.	14.9406|14.9406	0.70992|0.70992	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	49|.	Q16718|.	NDUA5_HUMAN|.	A|S	49;49;59|44	.|.	ENSP00000347988:E49A|.	E|R	-|-	2|3	0|2	NDUFA5|NDUFA5	122977797|122977797	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.095000|6.095000	0.71439|0.71439	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	GAA|AGA		0.333	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000		4	119	0	0	0	1	0	4	119				
LHX4	89884	broad.mit.edu	37	1	180235529	180235529	+	Missense_Mutation	SNP	G	G	A	rs374124070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:180235529G>A	ENST00000263726.2	+	3	495	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	84	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein). {ECO:0000269|PubMed:18073311}.		medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCTGACAGGCGCTTCGGCACA	0.622																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(250-252)cGc>cAc		LIM homeobox 4		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		251	5.3	1.0	1		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	LHX4	NM_033343.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	84/391	180235529	2,13004	2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235529G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.251G>A	1.37:g.180235529G>A	ENSP00000263726:p.Arg84His						p.R84H	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			3	495	+			84		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein).	LIM zinc-binding 1.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.251G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211695	0.58452	2.27E-4	1.16E-4	ENSG00000121454	ENST00000263726	D	0.87491	-2.26	5.26	5.26	0.73747	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.95443	0.8527	10	0.87932	D	0	.	17.6438	0.88144	0.0:0.0:1.0:0.0	.	84	Q969G2	LHX4_HUMAN	H	84	ENSP00000263726:R84H	ENSP00000263726:R84H	R	+	2	0	LHX4	178502152	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.703000	0.98714	2.467000	0.83353	0.561000	0.74099	CGC		0.622	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		24	30	0	0	0	1	0	24	30				
EFHC1	114327	broad.mit.edu	37	6	52357121	52357121	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52357121T>C	ENST00000371068.5	+	11	2008	c.1905T>C	c.(1903-1905)gtT>gtC	p.V635V	EFHC1_ENST00000433625.2_Intron|EFHC1_ENST00000538167.1_Silent_p.V616V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	635						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACTTTGTTCGTGCTTTCT	0.398																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1903-1905)gtT>gtC		EF-hand domain (C-terminal) containing 1							113.0	98.0	103.0					6																	52357121		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52357121T>C	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1905T>C	6.37:g.52357121T>C						EFHC1_ENST00000538167.1_Silent_p.V616V|EFHC1_ENST00000433625.2_Intron	p.V635V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			11	2008	+	Lung NSC(77;0.109)		635					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.1905T>C	CCDS4942.1																																																																																				0.398	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		17	87	0	0	0	1	0	17	87				
LRIG3	121227	broad.mit.edu	37	12	59282165	59282165	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:59282165G>A	ENST00000320743.3	-	7	1179	c.893C>T	c.(892-894)gCc>gTc	p.A298V	LRIG3_ENST00000379141.4_Missense_Mutation_p.A238V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	298					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCTGTTGATGGCATTTTGGCT	0.483			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(892-894)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 3							123.0	108.0	113.0					12																	59282165		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59282165G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.893C>T	12.37:g.59282165G>A	ENSP00000326759:p.Ala298Val					LRIG3_ENST00000379141.4_Missense_Mutation_p.A238V	p.A298V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1179	-			298					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.893C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548335	0.86127	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.24908	1.83;1.83	5.76	4.88	0.63580	.	0.000000	0.36854	N	0.002368	T	0.26738	0.0654	L	0.35414	1.06	0.58432	D	0.999995	B;P	0.44946	0.354;0.846	P;P	0.46389	0.454;0.515	T	0.01711	-1.1290	9	.	.	.	.	15.2392	0.73455	0.0676:0.0:0.9324:0.0	.	238;298	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	238;298	ENSP00000368436:A238V;ENSP00000326759:A298V	.	A	-	2	0	LRIG3	57568432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.976000	0.88070	1.578000	0.49821	0.650000	0.86243	GCC		0.483	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		23	29	0	0	0	1	0	23	29				
UMPS	7372	broad.mit.edu	37	3	124456654	124456654	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:124456654G>A	ENST00000232607.2	+	3	656	c.550G>A	c.(550-552)Gag>Aag	p.E184K	UMPS_ENST00000413078.2_Missense_Mutation_p.E6K|UMPS_ENST00000536109.1_Missense_Mutation_p.E92K|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.E6K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	184	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GGAGATTCTCGAGCAGCAGAA	0.498																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(550-552)Gag>Aag		uridine monophosphate synthetase							79.0	74.0	75.0					3																	124456654		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456654G>A		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.550G>A	3.37:g.124456654G>A	ENSP00000232607:p.Glu184Lys					UMPS_ENST00000413078.2_Missense_Mutation_p.E6K|UMPS_ENST00000538242.1_Missense_Mutation_p.E6K|UMPS_ENST00000536109.1_Missense_Mutation_p.E92K|UMPS_ENST00000498715.1_3'UTR	p.E184K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	656	+			184			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.550G>A	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	5.999	0.368298	0.11352	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.70986	-0.53;-0.53;0.58;0.57	5.65	3.86	0.44501	.	0.367859	0.28560	N	0.014915	T	0.43722	0.1260	N	0.13198	0.31	0.25751	N	0.985054	P;B	0.45569	0.861;0.003	B;B	0.29353	0.101;0.004	T	0.29640	-1.0005	10	0.27082	T	0.32	-17.3113	9.8959	0.41318	0.073:0.2788:0.6482:0.0	.	6;184	B5LY72;P11172	.;UMPS_HUMAN	K	184;92;6;6	ENSP00000232607:E184K;ENSP00000443577:E92K;ENSP00000444988:E6K;ENSP00000397965:E6K	ENSP00000232607:E184K	E	+	1	0	UMPS	125939344	0.998000	0.40836	0.990000	0.47175	0.927000	0.56198	2.971000	0.49248	0.928000	0.37168	-0.136000	0.14681	GAG		0.498	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		20	12	0	0	0	1	0	20	12				
TADA2B	93624	broad.mit.edu	37	4	7056103	7056103	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:7056103C>T	ENST00000310074.7	+	2	774	c.585C>T	c.(583-585)gaC>gaT	p.D195D	TADA2B_ENST00000512388.1_Silent_p.D120D|TADA2B_ENST00000515646.1_Silent_p.D103D	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	195					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ATGATGACGACGACGTGGAGA	0.577																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(583-585)gaC>gaT		transcriptional adaptor 2B							58.0	62.0	60.0					4																	7056103		2035	4195	6230	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056103C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.585C>T	4.37:g.7056103C>T						TADA2B_ENST00000512388.1_Silent_p.D120D|TADA2B_ENST00000515646.1_Silent_p.D103D	p.D195D	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	774	+			195					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.585C>T	CCDS47007.1																																																																																				0.577	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		17	28	0	0	0	1	0	17	28				
STMN3	50861	broad.mit.edu	37	20	62272715	62272715	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62272715C>T	ENST00000370053.1	-	5	600	c.519G>A	c.(517-519)gaG>gaA	p.E173E	STMN3_ENST00000540534.1_Silent_p.E162E	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	173	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CTTCTCGCTGCTCCTTGTTCC	0.667																																						ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(517-519)gaG>gaA		stathmin-like 3							17.0	17.0	17.0					20																	62272715		2166	4247	6413	SO:0001819	synonymous_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62272715C>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.519G>A	20.37:g.62272715C>T						STMN3_ENST00000540534.1_Silent_p.E162E	p.E173E	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		5	600	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		173					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	c.519G>A	CCDS13529.1																																																																																				0.667	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		4	1	0	0	0	1	0	4	1				
CHIAP2	149620	broad.mit.edu	37	1	111824404	111824404	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111824404C>A	ENST00000369743.4	+	0	288					NR_003928.1				chitinase, acidic pseudogene 2																		AGTTTCAAATCTTTTAACCTT	0.393																																						ENST00000369743.4																			0																																																			0							g.chr1:111824404C>A			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824404C>A								NR_003928.1						0	288	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.393	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			7	5	1	0	2.0095e-06	1	2.09073e-06	7	5				
GARNL3	84253	broad.mit.edu	37	9	130111298	130111298	+	Silent	SNP	C	C	T	rs559232060		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130111298C>T	ENST00000373387.4	+	17	1879	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	GARNL3_ENST00000314904.5_Silent_p.G509G|GARNL3_ENST00000435213.2_Silent_p.G487G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	509	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGATGCTGGCGTCTTGCTAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19021	0.0		0.0	False		,,,				2504	0.001					ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(1525-1527)ggC>ggT		GTPase activating Rap/RanGAP domain-like 3							173.0	149.0	157.0					9																	130111298		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130111298C>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1527C>T	9.37:g.130111298C>T						GARNL3_ENST00000435213.2_Silent_p.G487G|GARNL3_ENST00000314904.5_Silent_p.G509G	p.G509G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			17	1879	+			509			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.1527C>T	CCDS6869.2																																																																																				0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		8	28	0	0	0	1	0	8	28				
PTF1A	256297	broad.mit.edu	37	10	23482762	23482762	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:23482762A>G	ENST00000376504.3	+	2	1118	c.914A>G	c.(913-915)gAc>gGc	p.D305G		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	305					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						ACCCCAGAGGACCCCAGAAAA	0.473																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(913-915)gAc>gGc		pancreas specific transcription factor, 1a							114.0	130.0	124.0					10																	23482762		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482762A>G	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.914A>G	10.37:g.23482762A>G	ENSP00000365687:p.Asp305Gly						p.D305G	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			2	1118	+			305					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.914A>G	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009732	0.75046	.	.	ENSG00000168267	ENST00000376504	D	0.95482	-3.72	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.68593	2.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.97915	1.0311	10	0.87932	D	0	-6.4326	16.0402	0.80667	1.0:0.0:0.0:0.0	.	305	Q7RTS3	PTF1A_HUMAN	G	305	ENSP00000365687:D305G	ENSP00000365687:D305G	D	+	2	0	PTF1A	23522768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.305000	0.96197	2.268000	0.75426	0.454000	0.30748	GAC		0.473	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		30	76	0	0	0	1	0	30	76				
NOVA1	4857	broad.mit.edu	37	14	26917902	26917902	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:26917902C>T	ENST00000539517.2	-	5	1104	c.787G>A	c.(787-789)Gca>Aca	p.A263T	NOVA1_ENST00000465357.2_Missense_Mutation_p.A239T|NOVA1_ENST00000267422.7_Missense_Mutation_p.A141T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	266					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGGAATTTGCCACTGGACCT	0.463																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(787-789)Gca>Aca		neuro-oncological ventral antigen 1							182.0	164.0	170.0					14																	26917902		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917902C>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.787G>A	14.37:g.26917902C>T	ENSP00000438875:p.Ala263Thr					NOVA1_ENST00000465357.2_Missense_Mutation_p.A239T|NOVA1_ENST00000267422.7_Missense_Mutation_p.A141T	p.A263T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1104	-			266					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.787G>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453782	0.84209	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.37584	1.25;1.21;1.19;1.38	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.76071	0.987;0.956;0.981	T	0.48007	-0.9072	10	0.14252	T	0.57	-3.2551	19.8956	0.96956	0.0:1.0:0.0:0.0	.	266;239;263	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	T	239;263;141;222	ENSP00000447391:A239T;ENSP00000438875:A263T;ENSP00000267422:A141T;ENSP00000408914:A222T	ENSP00000267422:A141T	A	-	1	0	NOVA1	25987742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.708000	0.92522	0.563000	0.77884	GCA		0.463	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		30	46	0	0	0	1	0	30	46				
STX1A	6804	broad.mit.edu	37	7	73123392	73123392	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73123392C>T	ENST00000222812.3	-	2	117	c.91G>A	c.(91-93)Gat>Aat	p.D31N	STX1A_ENST00000395154.3_Missense_Mutation_p.D31N|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_Missense_Mutation_p.D31N|STX1A_ENST00000395156.3_Missense_Mutation_p.D31N	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	31					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAGAACTCATCCATGAAGCGG	0.587																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(91-93)Gat>Aat		syntaxin 1A (brain)							220.0	179.0	193.0					7																	73123392		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123392C>T		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.91G>A	7.37:g.73123392C>T	ENSP00000222812:p.Asp31Asn					STX1A_ENST00000395156.3_Missense_Mutation_p.D31N|STX1A_ENST00000395154.3_Missense_Mutation_p.D31N|STX1A_ENST00000395155.3_Missense_Mutation_p.D31N	p.D31N	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	117	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	31					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.91G>A	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908336	0.72868	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.87	4.87	0.63330	t-SNARE (1);Syntaxin, N-terminal (2);	0.162857	0.52532	D	0.000079	T	0.25680	0.0625	M	0.64404	1.975	0.80722	D	1	B;B;B	0.27700	0.186;0.075;0.034	B;B;B	0.27715	0.082;0.049;0.027	T	0.04855	-1.0922	10	0.51188	T	0.08	-31.3071	15.5246	0.75894	0.0:1.0:0.0:0.0	.	31;31;31	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	N	31	ENSP00000222812:D31N;ENSP00000378585:D31N;ENSP00000378583:D31N;ENSP00000378584:D31N	ENSP00000222812:D31N	D	-	1	0	STX1A	72761328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.258000	0.74832	0.561000	0.74099	GAT		0.587	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		47	55	0	0	0	1	0	47	55				
FAT4	79633	broad.mit.edu	37	4	126241756	126241756	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126241756G>A	ENST00000394329.3	+	1	4203	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1397	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCAAGGAAGACCTCCTCGT	0.378																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4189-4191)aGa>aAa		FAT atypical cadherin 4							128.0	121.0	123.0					4																	126241756		1853	4086	5939	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241756G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4190G>A	4.37:g.126241756G>A	ENSP00000377862:p.Arg1397Lys						p.R1397K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4203	+			1397			Cadherin 13.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4190G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575013	0.45902	.	.	ENSG00000196159	ENST00000394329	T	0.01685	4.69	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.36167	U	0.002754	T	0.02533	0.0077	N	0.10760	0.04	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.63795	-0.6556	10	0.06494	T	0.89	.	11.6377	0.51213	0.0811:0.0:0.9189:0.0	.	1397	Q6V0I7	FAT4_HUMAN	K	1397	ENSP00000377862:R1397K	ENSP00000377862:R1397K	R	+	2	0	FAT4	126461206	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	7.664000	0.83830	2.535000	0.85469	0.655000	0.94253	AGA		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	80	0	0	0	1	0	45	80				
ZNF202	7753	broad.mit.edu	37	11	123601449	123601449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123601449G>A	ENST00000529691.1	-	2	367	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ZNF202_ENST00000530393.1_Nonsense_Mutation_p.R50*|ZNF202_ENST00000336139.4_Nonsense_Mutation_p.R50*			O95125	ZN202_HUMAN	zinc finger protein 202	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGGAAGCGTCGGAAGTTCTGG	0.547																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(148-150)Cga>Tga		zinc finger protein 202							102.0	101.0	101.0					11																	123601449		2202	4299	6501	SO:0001587	stop_gained	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601449G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.148C>T	11.37:g.123601449G>A	ENSP00000433881:p.Arg50*					ZNF202_ENST00000529691.1_Nonsense_Mutation_p.R50*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.R50*	p.R50*			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	510	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	50			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	c.148C>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425313	0.62733	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	.	.	.	4.7	3.77	0.43336	.	0.000000	0.41396	D	0.000889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5501	9.9193	0.41455	0.0:0.0:0.6292:0.3708	.	.	.	.	X	50	.	ENSP00000337724:R50X	R	-	1	2	ZNF202	123106659	1.000000	0.71417	0.988000	0.46212	0.464000	0.32679	1.622000	0.36997	1.177000	0.42855	0.555000	0.69702	CGA		0.547	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		10	49	0	0	0	1	0	10	49				
SYNE1	23345	broad.mit.edu	37	6	152749493	152749493	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152749493G>A	ENST00000367255.5	-	37	5424	c.4823C>T	c.(4822-4824)gCg>gTg	p.A1608V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1678V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1615V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1608					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.A1608V(2)		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)		GGCAGTGATCGCGCTGCTCAG	0.537										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.A1608V(2)	prostate(2)	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						c.(4822-4824)gCg>gTg		spectrin repeat containing, nuclear envelope 1							73.0	72.0	72.0					6																	152749493		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.chr6:152749493G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4823C>T	6.37:g.152749493G>A	ENSP00000356224:p.Ala1608Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1608V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1678V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1615V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1608V	p.A1608V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5424	-		Ovarian(120;0.0955)	1608					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.4823C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.524	1.108937	0.20714	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.6	2.75	0.32379	.	0.776537	0.11457	N	0.562214	T	0.10208	0.0250	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B	0.28128	0.031;0.081;0.201;0.081;0.201	B;B;B;B;B	0.24269	0.006;0.007;0.052;0.007;0.036	T	0.30031	-0.9992	10	0.27082	T	0.32	.	9.9404	0.41576	0.1251:0.2109:0.664:0.0	.	1591;1608;1608;1608;1615	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1608;1615;1608;1615;1678;1608	ENSP00000356224:A1608V;ENSP00000396024:A1615V;ENSP00000265368:A1608V;ENSP00000390975:A1615V;ENSP00000341887:A1678V;ENSP00000356222:A1608V	ENSP00000265368:A1608V	A	-	2	0	SYNE1	152791186	0.117000	0.22190	0.000000	0.03702	0.000000	0.00434	1.797000	0.38804	0.333000	0.23563	-1.814000	0.00607	GCG		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	25	0	0	0	1	0	13	25				
HHAT	55733	broad.mit.edu	37	1	210847634	210847634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:210847634G>A	ENST00000367010.1	+	12	1622	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*	HHAT_ENST00000537898.1_Nonsense_Mutation_p.W400*|HHAT_ENST00000367009.1_Nonsense_Mutation_p.W155*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.W465*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.W328*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.W466*|HHAT_ENST00000545781.1_Nonsense_Mutation_p.W402*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.W420*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.W465*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	465					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGCAGGCTGGCCTTGGGTGA	0.587																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1393-1395)tgG>tgA		hedgehog acyltransferase							136.0	112.0	120.0					1																	210847634		2203	4300	6503	SO:0001587	stop_gained	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210847634G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1395G>A	1.37:g.210847634G>A	ENSP00000355977:p.Trp465*					HHAT_ENST00000537898.1_Nonsense_Mutation_p.W400*|HHAT_ENST00000367009.1_Nonsense_Mutation_p.W155*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.W420*|HHAT_ENST00000545781.1_Nonsense_Mutation_p.W402*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.W466*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.W328*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.W465*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.W465*	p.W465*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	12	1622	+			465					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Nonsense_Mutation	SNP	ENST00000367010.1	37	c.1395G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.951278	0.97139	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	16.499	0.84253	0.0:0.0:1.0:0.0	.	.	.	.	X	465;328;466;400;402;465;420;465;155	.	ENSP00000261458:W465X	W	+	3	0	HHAT	208914257	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.899000	0.63245	2.736000	0.93811	0.655000	0.94253	TGG		0.587	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		27	23	0	0	0	1	0	27	23				
FAT3	120114	broad.mit.edu	37	11	92568221	92568221	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92568221G>A	ENST00000298047.6	+	14	10074	c.10057G>A	c.(10057-10059)Gac>Aac	p.D3353N	FAT3_ENST00000409404.2_Missense_Mutation_p.D3353N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3203N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATCAGTGAAGACGCCTTGGT	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10057-10059)Gac>Aac		FAT atypical cadherin 3							50.0	50.0	50.0					11																	92568221		1937	4149	6086	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568221G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10057G>A	11.37:g.92568221G>A	ENSP00000298047:p.Asp3353Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D3353N|FAT3_ENST00000525166.1_Missense_Mutation_p.D3203N	p.D3353N			Q8TDW7	FAT3_HUMAN			14	10074	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3353			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10057G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.952169	0.92660	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58210	0.35;0.35;0.35	5.46	5.46	0.80206	.	.	.	.	.	T	0.62208	0.2409	L	0.31371	0.925	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.57318	-0.7832	9	0.27082	T	0.32	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3353	Q8TDW7-3	.	N	3353;3353;3203	ENSP00000298047:D3353N;ENSP00000387040:D3353N;ENSP00000432586:D3203N	ENSP00000298047:D3353N	D	+	1	0	FAT3	92207869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.782000	0.99034	2.539000	0.85634	0.655000	0.94253	GAC		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	18	0	0	0	1	0	14	18				
PHF1	5252	broad.mit.edu	37	6	33381025	33381025	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33381025G>T	ENST00000374516.3	+	5	661	c.390G>T	c.(388-390)gaG>gaT	p.E130D	PHF1_ENST00000374512.3_Missense_Mutation_p.E130D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	130					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GAGAGGGAGAGGGCACATCCT	0.562																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(388-390)gaG>gaT		PHD finger protein 1							113.0	112.0	112.0					6																	33381025		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33381025G>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.390G>T	6.37:g.33381025G>T	ENSP00000363640:p.Glu130Asp					PHF1_ENST00000374512.3_Missense_Mutation_p.E130D	p.E130D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			5	661	+		Ovarian(999;0.0443)	130					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.390G>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857231	0.17106	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	4.9	1.82	0.25136	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.520018	0.20907	N	0.083525	T	0.39963	0.1098	N	0.03084	-0.415	0.28243	N	0.925601	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.36114	-0.9761	10	0.14656	T	0.56	-26.8308	5.8216	0.18530	0.0952:0.0:0.4474:0.4574	.	130;130	O43189-2;O43189	.;PHF1_HUMAN	D	130	ENSP00000410494:E130D;ENSP00000392697:E130D;ENSP00000363636:E130D;ENSP00000363640:E130D	ENSP00000363636:E130D	E	+	3	2	PHF1	33489003	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.990000	0.29642	0.636000	0.30508	-0.150000	0.13652	GAG		0.562	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			8	31	1	0	1.76689e-08	1	1.86465e-08	8	31				
ARHGAP17	55114	broad.mit.edu	37	16	24953340	24953340	+	Silent	SNP	C	C	T	rs150261398	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:24953340C>T	ENST00000289968.6	-	16	1527	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.A486A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	486					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTTCCATCACCGCCATGCTAG	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22385	0.0		0.0	False		,,,				2504	0.0					ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1456-1458)gcG>gcA		Rho GTPase activating protein 17		C	,	1,4393	2.1+/-5.4	0,1,2196	115.0	104.0	108.0		1458,1458	-5.5	1.0	16	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP17	NM_001006634.1,NM_018054.4	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	486/882,486/804	24953340	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24953340C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1458G>A	16.37:g.24953340C>T						ARHGAP17_ENST00000303665.5_Silent_p.A486A|ARHGAP17_ENST00000441763.2_3'UTR	p.A486A	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	16	1527	-			486					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.1458G>A	CCDS32409.1																																																																																				0.502	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		29	50	0	0	0	1	0	29	50				
POU1F1	5449	broad.mit.edu	37	3	87325526	87325526	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:87325526G>A	ENST00000350375.2	-	1	211	c.87C>T	c.(85-87)caC>caT	p.H29H	POU1F1_ENST00000344265.3_Silent_p.H29H|POU1F1_ENST00000560656.1_Silent_p.H29H	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	29					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CGGCAGCACTGTGATGCATTA	0.463																																						ENST00000350375.2																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(85-87)caC>caT		POU class 1 homeobox 1							114.0	115.0	115.0					3																	87325526		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325526G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.87C>T	3.37:g.87325526G>A						POU1F1_ENST00000560656.1_Silent_p.H29H|POU1F1_ENST00000344265.3_Silent_p.H29H	p.H29H	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	211	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	29					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.87C>T	CCDS2919.1																																																																																				0.463	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		18	39	0	0	0	1	0	18	39				
PIPOX	51268	broad.mit.edu	37	17	27380057	27380057	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27380057G>A	ENST00000323372.4	+	3	709	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	128					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGAAGCAACGTTTCCCAAAT	0.483																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(382-384)cGt>cAt		pipecolic acid oxidase	Glycine(DB00145)						98.0	92.0	94.0					17																	27380057		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380057G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.383G>A	17.37:g.27380057G>A	ENSP00000317721:p.Arg128His					PIPOX_ENST00000583215.1_3'UTR	p.R128H	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		3	709	+	Lung NSC(42;0.015)		128					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.383G>A	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950462	0.34377	.	.	ENSG00000179761	ENST00000323372;ENST00000419875	D	0.83419	-1.72	5.98	-0.835	0.10775	FAD dependent oxidoreductase (1);	0.305872	0.39759	N	0.001262	T	0.75968	0.3922	L	0.58354	1.805	0.34214	D	0.674571	B	0.18968	0.032	B	0.17098	0.017	T	0.69522	-0.5123	10	0.40728	T	0.16	8.4116	9.6347	0.39800	0.4788:0.0:0.5212:0.0	.	128	Q9P0Z9	SOX_HUMAN	H	128;59	ENSP00000317721:R128H	ENSP00000317721:R128H	R	+	2	0	PIPOX	24404183	0.012000	0.17670	0.935000	0.37517	0.952000	0.60782	0.111000	0.15458	-0.110000	0.12022	-0.948000	0.02665	CGT		0.483	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		31	39	0	0	0	1	0	31	39				
ZFYVE16	9765	broad.mit.edu	37	5	79733372	79733372	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:79733372G>A	ENST00000338008.5	+	3	1048	c.868G>A	c.(868-870)Gca>Aca	p.A290T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A290T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A290T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	290					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CATAACTGCCGCAGAATGTTT	0.393																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(868-870)Gca>Aca		zinc finger, FYVE domain containing 16																																				SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733372G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.868G>A	5.37:g.79733372G>A	ENSP00000337159:p.Ala290Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A290T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A290T	p.A290T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1048	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	290					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.868G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412893	0.00191	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36520	1.25;1.25;1.25	5.09	-5.77	0.02369	.	0.949724	0.08744	N	0.900046	T	0.09555	0.0235	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.36335	-0.9752	10	0.02654	T	1	-3.2228	7.1632	0.25675	0.3432:0.3185:0.3382:0.0	.	290;290	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	T	290	ENSP00000337159:A290T;ENSP00000423663:A290T;ENSP00000426848:A290T	ENSP00000337159:A290T	A	+	1	0	ZFYVE16	79769128	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.676000	0.05221	-0.949000	0.03663	-0.373000	0.07131	GCA		0.393	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		40	40	0	0	0	1	0	40	40				
URGCP	55665	broad.mit.edu	37	7	43918563	43918563	+	Missense_Mutation	SNP	C	C	T	rs200962522		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:43918563C>T	ENST00000453200.1	-	6	992	c.499G>A	c.(499-501)Gac>Aac	p.D167N	URGCP_ENST00000443736.1_Missense_Mutation_p.D124N|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.D124N|URGCP_ENST00000447717.3_Missense_Mutation_p.D124N|URGCP_ENST00000223341.7_Missense_Mutation_p.D124N|URGCP_ENST00000402306.3_Missense_Mutation_p.D158N|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	167					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAATAAATGTCGGCAGCAAGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19245	0.001		0.0	False		,,,				2504	0.0					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(370-372)Gac>Aac		upregulator of cell proliferation							83.0	91.0	88.0					7																	43918563		2055	4192	6247	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918563C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.499G>A	7.37:g.43918563C>T	ENSP00000396918:p.Asp167Asn					URGCP_ENST00000447717.3_Missense_Mutation_p.D124N|URGCP_ENST00000443736.1_Missense_Mutation_p.D124N|URGCP_ENST00000453200.1_Missense_Mutation_p.D167N|URGCP_ENST00000402306.3_Missense_Mutation_p.D158N|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.D124N	p.D124N			Q8TCY9	URGCP_HUMAN			4	2606	-			167					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.370G>A	CCDS47578.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.20	2.762287	0.49468	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.38	5.38	0.77491	.	.	.	.	.	T	0.64681	0.2620	L	0.61387	1.9	0.35228	D	0.776668	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.68618	-0.5361	9	0.29301	T	0.29	-43.298	16.6204	0.84928	0.0:1.0:0.0:0.0	.	158;167	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	N	124;124;158;124;167;124;124	ENSP00000223341:D124N;ENSP00000336872:D124N;ENSP00000384955:D158N;ENSP00000392136:D124N;ENSP00000396918:D167N;ENSP00000402803:D124N;ENSP00000389990:D124N	ENSP00000223341:D124N	D	-	1	0	URGCP	43885088	0.421000	0.25465	0.950000	0.38849	0.506000	0.33950	0.834000	0.27518	2.523000	0.85059	0.655000	0.94253	GAC		0.557	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		24	28	0	0	0	1	0	24	28				
FRYL	285527	broad.mit.edu	37	4	48567655	48567655	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:48567655T>C	ENST00000503238.1	-	26	3222	c.3223A>G	c.(3223-3225)Atg>Gtg	p.M1075V	FRYL_ENST00000537810.1_Missense_Mutation_p.M1075V|FRYL_ENST00000358350.4_Missense_Mutation_p.M1075V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.M1075V			O94915	FRYL_HUMAN	FRY-like	1075					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAACAGCATAAATAGACTG	0.368																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3223-3225)Atg>Gtg		FRY-like							106.0	98.0	100.0					4																	48567655		1863	4120	5983	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48567655T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3223A>G	4.37:g.48567655T>C	ENSP00000426064:p.Met1075Val					FRYL_ENST00000507711.1_Missense_Mutation_p.M1075V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.M1075V|FRYL_ENST00000358350.4_Missense_Mutation_p.M1075V	p.M1075V			O94915	FRYL_HUMAN			29	3827	-			1075					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3223A>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123391	0.37436	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.41758	1.98;1.98;1.98;0.99	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	P;B	0.43826	0.818;0.019	B;B	0.41466	0.358;0.013	T	0.06607	-1.0817	10	0.12766	T	0.61	.	16.3232	0.82961	0.0:0.0:0.0:1.0	.	1075;1075	F2Z2S2;O94915	.;FRYL_HUMAN	V	1075	ENSP00000426064:M1075V;ENSP00000351113:M1075V;ENSP00000441114:M1075V;ENSP00000421584:M1075V	ENSP00000351113:M1075V	M	-	1	0	FRYL	48262412	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	6.160000	0.71862	2.254000	0.74563	0.482000	0.46254	ATG		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			11	43	0	0	0	1	0	11	43				
EPPK1	83481	broad.mit.edu	37	8	144940342	144940342	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144940342G>A	ENST00000525985.1	-	2	7151	c.7080C>T	c.(7078-7080)gaC>gaT	p.D2360D				P58107	EPIPL_HUMAN	epiplakin 1	2360						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTAGGCCACGTCCACGGGCA	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7078-7080)gaC>gaT		epiplakin 1							198.0	194.0	195.0					8																	144940342		2174	4250	6424	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940342G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7080C>T	8.37:g.144940342G>A							p.D2360D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7151	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2360					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7080C>T																																																																																					0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		16	251	0	0	0	1	0	16	251				
CNOT6	57472	broad.mit.edu	37	5	180001094	180001094	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180001094C>T	ENST00000393356.1	+	14	1992	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	CNOT6_ENST00000261951.4_Missense_Mutation_p.P523L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	523	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGTGGCTGCCCGCACCCCCTC	0.532																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1567-1569)cCg>cTg		CCR4-NOT transcription complex, subunit 6							125.0	122.0	123.0					5																	180001094		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:180001094C>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1568C>T	5.37:g.180001094C>T	ENSP00000377024:p.Pro523Leu					CNOT6_ENST00000261951.4_Missense_Mutation_p.P523L	p.P523L			Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	14	1992	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	523					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1568C>T	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105206	0.77096	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.27890	1.64;1.64	5.72	5.72	0.89469	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81571	-0.0872	9	.	.	.	-8.9647	19.8938	0.96942	0.0:1.0:0.0:0.0	.	523	Q9ULM6	CNOT6_HUMAN	L	523	ENSP00000261951:P523L;ENSP00000377024:P523L	.	P	+	2	0	CNOT6	179933700	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.703000	0.92315	0.460000	0.39030	CCG		0.532	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		39	44	0	0	0	1	0	39	44				
GUCY2C	2984	broad.mit.edu	37	12	14804929	14804929	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:14804929A>G	ENST00000261170.3	-	14	1705	c.1569T>C	c.(1567-1569)ggT>ggC	p.G523G		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGTGAAATTACCATCATTGT	0.353																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1567-1569)ggT>ggC		guanylate cyclase 2C (heat stable enterotoxin receptor)							223.0	201.0	208.0					12																	14804929		2201	4299	6500	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804929A>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1569T>C	12.37:g.14804929A>G							p.G523G	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			14	1705	-			523			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1569T>C	CCDS8664.1																																																																																				0.353	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			22	35	0	0	0	1	0	22	35				
ESM1	11082	broad.mit.edu	37	5	54275236	54275236	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:54275236T>A	ENST00000381405.4	-	3	624	c.479A>T	c.(478-480)aAt>aTt	p.N160I	ESM1_ENST00000381403.4_Missense_Mutation_p.N110I|ESM1_ENST00000598310.1_5'UTR	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	160					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCTCACAATATTGCCATCTCC	0.418																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(478-480)aAt>aTt		endothelial cell-specific molecule 1							133.0	131.0	131.0					5																	54275236		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54275236T>A	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.479A>T	5.37:g.54275236T>A	ENSP00000370812:p.Asn160Ile					ESM1_ENST00000381403.4_Missense_Mutation_p.N110I|ESM1_ENST00000598310.1_5'UTR	p.N160I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		3	624	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	160					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.479A>T	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	T	8.189	0.795499	0.16327	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	.	.	.	5.52	3.12	0.35913	.	0.250143	0.39083	N	0.001466	T	0.29190	0.0726	L	0.29908	0.895	0.29627	N	0.84576	P;P	0.50710	0.624;0.938	B;P	0.45037	0.347;0.467	T	0.15867	-1.0422	9	0.87932	D	0	-11.5605	9.8221	0.40889	0.0:0.14:0.0:0.86	.	110;160	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	I	160;110	.	ENSP00000370810:N110I	N	-	2	0	ESM1	54310993	0.990000	0.36364	0.907000	0.35723	0.011000	0.07611	2.237000	0.43061	0.377000	0.24735	-0.400000	0.06385	AAT		0.418	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		25	35	0	0	0	1	0	25	35				
SLC7A10	56301	broad.mit.edu	37	19	33702165	33702165	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:33702165C>T	ENST00000253188.4	-	7	1128	c.982G>A	c.(982-984)Gga>Aga	p.G328R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	328					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TTGATCCCTCCGAAGGTTGAC	0.587																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(982-984)Gga>Aga		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							93.0	77.0	82.0					19																	33702165		2203	4300	6503	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702165C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.982G>A	19.37:g.33702165C>T	ENSP00000253188:p.Gly328Arg						p.G328R	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1128	-	Esophageal squamous(110;0.137)		328					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.982G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913620	0.72983	.	.	ENSG00000130876	ENST00000253188	D	0.92965	-3.14	5.45	5.45	0.79879	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97402	0.9150	H	0.95712	3.71	0.39563	D	0.96916	D	0.89917	1.0	D	0.80764	0.994	D	0.99308	1.0903	10	0.87932	D	0	.	18.2649	0.90049	0.0:1.0:0.0:0.0	.	328	Q9NS82	AAA1_HUMAN	R	328	ENSP00000253188:G328R	ENSP00000253188:G328R	G	-	1	0	SLC7A10	38394005	1.000000	0.71417	0.995000	0.50966	0.305000	0.27757	7.783000	0.85696	2.577000	0.86979	0.467000	0.42956	GGA		0.587	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		28	21	0	0	0	1	0	28	21				
ADAMTS19	171019	broad.mit.edu	37	5	128844825	128844825	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:128844825C>T	ENST00000274487.4	+	3	930	c.785C>T	c.(784-786)aCa>aTa	p.T262I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	262						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCAATGATACAATGGCCATA	0.383																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(784-786)aCa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							98.0	91.0	94.0					5																	128844825		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844825C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.785C>T	5.37:g.128844825C>T	ENSP00000274487:p.Thr262Ile					CTC-575N7.1_ENST00000503616.1_RNA	p.T262I	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	930	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	262						Missense_Mutation	SNP	ENST00000274487.4	37	c.785C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311669	0.60414	.	.	ENSG00000145808	ENST00000274487	T	0.06294	3.32	4.27	3.37	0.38596	Peptidase M12B, propeptide (1);	0.286793	0.29791	N	0.011190	T	0.16642	0.0400	L	0.42581	1.335	0.49130	D	0.99975	D	0.76494	0.999	D	0.73380	0.98	T	0.02326	-1.1176	9	.	.	.	.	14.9534	0.71091	0.0:0.8558:0.1442:0.0	.	262	Q8TE59	ATS19_HUMAN	I	262	ENSP00000274487:T262I	.	T	+	2	0	ADAMTS19	128872724	0.997000	0.39634	0.992000	0.48379	0.997000	0.91878	2.668000	0.46816	1.347000	0.45714	0.650000	0.86243	ACA		0.383	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	55	0	0	0	1	0	7	55				
FGD5	152273	broad.mit.edu	37	3	14939561	14939561	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14939561C>T	ENST00000285046.5	+	6	3135	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	FGD5_ENST00000543601.1_Missense_Mutation_p.L768F|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1009	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGAATTGCCTCCACTCTCC	0.597																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3025-3027)Ctc>Ttc		FYVE, RhoGEF and PH domain containing 5							98.0	105.0	103.0					3																	14939561		2157	4270	6427	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14939561C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3025C>T	3.37:g.14939561C>T	ENSP00000285046:p.Leu1009Phe					FGD5_ENST00000543601.1_Missense_Mutation_p.L768F|FGD5_ENST00000476851.1_3'UTR	p.L1009F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			6	3135	+			1009			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3025C>T	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.576268|2.576268	0.45902|0.45902	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000285046;ENST00000543601|ENST00000457774	T;T|.	0.30448|.	1.53;1.53|.	4.88|4.88	1.58|1.58	0.23477|0.23477	Dbl homology (DH) domain (5);|.	0.294380|.	0.23933|.	N|.	0.043140|.	T|T	0.42268|0.42268	0.1195|0.1195	L|L	0.60455|0.60455	1.87|1.87	0.21499|0.21499	N|N	0.999668|0.999668	P;P|.	0.44627|.	0.839;0.822|.	P;P|.	0.46885|.	0.452;0.53|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|5	0.56958|.	D|.	0.05|.	-9.8043|-9.8043	6.3669|6.3669	0.21459|0.21459	0.3328:0.5699:0.0:0.0972|0.3328:0.5699:0.0:0.0972	.|.	768;1009|.	B7ZM68;Q6ZNL6|.	.;FGD5_HUMAN|.	F|L	1009;768|192	ENSP00000285046:L1009F;ENSP00000445949:L768F|.	ENSP00000285046:L1009F|.	L|P	+|+	1|2	0|0	FGD5|FGD5	14914565|14914565	0.938000|0.938000	0.31826|0.31826	0.570000|0.570000	0.28473|0.28473	0.789000|0.789000	0.44602|0.44602	1.311000|1.311000	0.33562|0.33562	0.438000|0.438000	0.26450|0.26450	0.591000|0.591000	0.81541|0.81541	CTC|CCT		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		37	63	0	0	0	1	0	37	63				
PLS1	5357	broad.mit.edu	37	3	142402951	142402951	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142402951G>A	ENST00000337777.3	+	7	896	c.683G>A	c.(682-684)gGa>gAa	p.G228E	PLS1_ENST00000457734.2_Missense_Mutation_p.G228E|PLS1_ENST00000497002.1_Missense_Mutation_p.G228E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	228	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGGTCTTGGGACTTCTCTGG	0.398																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(682-684)gGa>gAa		plastin 1							169.0	158.0	162.0					3																	142402951		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142402951G>A	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.683G>A	3.37:g.142402951G>A	ENSP00000336831:p.Gly228Glu					PLS1_ENST00000497002.1_Missense_Mutation_p.G228E|PLS1_ENST00000457734.2_Missense_Mutation_p.G228E	p.G228E	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			7	896	+			228			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.683G>A	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042810	0.93685	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.12	5.12	0.69794	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.151924	0.64402	D	0.000009	D	0.98343	0.9450	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99170	1.0864	10	0.87932	D	0	-17.9458	19.116	0.93340	0.0:0.0:1.0:0.0	.	228	Q14651	PLSI_HUMAN	E	228;149;228;228	ENSP00000387890:G228E;ENSP00000417481:G149E;ENSP00000336831:G228E;ENSP00000418700:G228E	ENSP00000336831:G228E	G	+	2	0	PLS1	143885641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.115000	0.94336	2.821000	0.97095	0.650000	0.86243	GGA		0.398	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		37	69	0	0	0	1	0	37	69				
CSMD3	114788	broad.mit.edu	37	8	113529318	113529318	+	Silent	SNP	G	G	A	rs373293740		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:113529318G>A	ENST00000297405.5	-	28	4945	c.4701C>T	c.(4699-4701)acC>acT	p.T1567T	CSMD3_ENST00000455883.2_Silent_p.T1463T|CSMD3_ENST00000343508.3_Silent_p.T1527T|CSMD3_ENST00000352409.3_Silent_p.T1567T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1567	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGAATGCAGGTTATTCTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4699-4701)acC>acT		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	139.0	130.0	133.0		4389,4701,4581	-0.2	1.0	8		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1463/3539,1567/3708,1527/3668	113529318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529318G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4701C>T	8.37:g.113529318G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T1527T|CSMD3_ENST00000352409.3_Silent_p.T1567T|CSMD3_ENST00000455883.2_Silent_p.T1463T	p.T1567T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4945	-			1567			Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4701C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	43	0	0	0	1	0	33	43				
GPR63	81491	broad.mit.edu	37	6	97246940	97246940	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97246940G>A	ENST00000229955.3	-	2	1013	c.668C>T	c.(667-669)cCt>cTt	p.P223L	GPR63_ENST00000417980.1_Missense_Mutation_p.P223L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGCTCGGGAAGGTATCTGCAG	0.458																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(667-669)cCt>cTt		G protein-coupled receptor 63							74.0	78.0	77.0					6																	97246940		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246940G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.668C>T	6.37:g.97246940G>A	ENSP00000229955:p.Pro223Leu					GPR63_ENST00000417980.1_Missense_Mutation_p.P223L	p.P223L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1013	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	223					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.668C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272901	0.59649	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.72282	-0.64;-0.64;-0.64	5.2	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.78801	2.425	0.80722	D	1	P	0.40211	0.707	P	0.49561	0.615	T	0.77472	-0.2575	10	0.72032	D	0.01	-4.1469	14.0228	0.64568	0.0735:0.0:0.9265:0.0	.	223	Q9BZJ6	GPR63_HUMAN	L	247;223;223;223	ENSP00000393170:P223L;ENSP00000229955:P223L;ENSP00000358273:P223L	ENSP00000229955:P223L	P	-	2	0	GPR63	97353661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	1.340000	0.45581	-0.142000	0.14014	CCT		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			15	61	0	0	0	1	0	15	61				
SESN3	143686	broad.mit.edu	37	11	94918625	94918625	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:94918625G>T	ENST00000536441.1	-	5	893	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	SESN3_ENST00000416495.2_Missense_Mutation_p.S186Y|SESN3_ENST00000393234.1_Missense_Mutation_p.S186Y|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.S47Y	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	186					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.S186Y(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTCAGGCAGAGACCAATTATT	0.363																																						ENST00000536441.1																			1	Substitution - Missense(1)	p.S186Y(1)	large_intestine(1)	endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(556-558)tCt>tAt		sestrin 3							82.0	84.0	83.0					11																	94918625		2201	4296	6497	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94918625G>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.557C>A	11.37:g.94918625G>T	ENSP00000441927:p.Ser186Tyr					SESN3_ENST00000393234.1_Missense_Mutation_p.S186Y|SESN3_ENST00000278499.2_Missense_Mutation_p.S47Y|SESN3_ENST00000416495.2_Missense_Mutation_p.S186Y|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	p.S186Y	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	5	893	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	186					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.557C>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165146	0.57476	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.90309	3.105	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.995;0.997;0.998	T	0.78580	-0.2149	10	0.87932	D	0	1.6643	19.4864	0.95030	0.0:0.0:1.0:0.0	.	47;186;186	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	Y	186;47;186;186	ENSP00000441927:S186Y;ENSP00000278499:S47Y;ENSP00000376926:S186Y;ENSP00000407008:S186Y	ENSP00000278499:S47Y	S	-	2	0	SESN3	94558273	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	8.895000	0.92512	2.687000	0.91594	0.561000	0.74099	TCT		0.363	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		22	54	1	0	2.79863e-10	1	2.98826e-10	22	54				
FBLN2	2199	broad.mit.edu	37	3	13612935	13612935	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13612935G>A	ENST00000295760.7	+	2	1149	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	FBLN2_ENST00000535798.1_Silent_p.P386P|FBLN2_ENST00000404922.3_Silent_p.P360P|FBLN2_ENST00000492059.1_Silent_p.P360P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	360	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGCATGCACCGAGCCTGGGCA	0.662																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1078-1080)ccG>ccA		fibulin 2							35.0	47.0	43.0					3																	13612935		2153	4237	6390	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13612935G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1080G>A	3.37:g.13612935G>A						FBLN2_ENST00000535798.1_Silent_p.P386P|FBLN2_ENST00000492059.1_Silent_p.P360P|FBLN2_ENST00000295760.7_Silent_p.P360P	p.P360P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	1199	+			360			N.|Subdomain NB (Cys-free).		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1080G>A	CCDS46762.1																																																																																				0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		4	10	0	0	0	1	0	4	10				
IKBKAP	8518	broad.mit.edu	37	9	111693365	111693365	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:111693365G>T	ENST00000374647.5	-	2	369	c.62C>A	c.(61-63)cCt>cAt	p.P21H	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	21					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAAGCACTGAGGATTCCCTGG	0.463																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(61-63)cCt>cAt		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							174.0	153.0	160.0					9																	111693365		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111693365G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.62C>A	9.37:g.111693365G>T	ENSP00000363779:p.Pro21His					IKBKAP_ENST00000537196.1_Intron	p.P21H	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			2	369	-			21					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.62C>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489178	0.84962	.	.	ENSG00000070061	ENST00000374647	T	0.05925	3.37	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03095	-1.1073	10	0.39692	T	0.17	-13.2811	15.5901	0.76521	0.0:0.0:1.0:0.0	.	21	O95163	ELP1_HUMAN	H	21	ENSP00000363779:P21H	ENSP00000363779:P21H	P	-	2	0	IKBKAP	110733186	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.053000	0.71089	2.329000	0.79093	0.650000	0.86243	CCT		0.463	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			6	76	1	0	0.00307968	1	0.00311927	6	76				
PKN3	29941	broad.mit.edu	37	9	131476599	131476599	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131476599G>A	ENST00000291906.4	+	11	1829	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	479	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGATGCCCTCGGACCCCAACA	0.652																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1435-1437)cGg>cAg		protein kinase N3							58.0	64.0	62.0					9																	131476599		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476599G>A	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1436G>A	9.37:g.131476599G>A	ENSP00000291906:p.Arg479Gln						p.R479Q	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			11	1829	+			479			Pro-rich.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1436G>A	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342086	0.24339	.	.	ENSG00000160447	ENST00000291906	T	0.28895	1.59	4.05	-0.81	0.10860	.	.	.	.	.	T	0.08179	0.0204	N	0.00926	-1.1	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.39251	-0.9623	9	0.09338	T	0.73	.	7.161	0.25664	0.4915:0.0:0.5085:0.0	.	479	Q6P5Z2	PKN3_HUMAN	Q	479	ENSP00000291906:R479Q	ENSP00000291906:R479Q	R	+	2	0	PKN3	130516420	0.003000	0.15002	0.183000	0.23137	0.464000	0.32679	-0.104000	0.10923	-0.045000	0.13468	-0.471000	0.05019	CGG		0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		28	59	0	0	0	1	0	28	59				
TMEM183A	92703	broad.mit.edu	37	1	202984027	202984027	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:202984027C>T	ENST00000367242.3	+	4	458	c.378C>T	c.(376-378)gaC>gaT	p.D126D	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	126						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AAGAACTGGACGGGGCTGGAG	0.398																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(376-378)gaC>gaT		transmembrane protein 183A							77.0	76.0	77.0					1																	202984027		2203	4300	6503	SO:0001819	synonymous_variant	92703							g.chr1:202984027C>T	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.378C>T	1.37:g.202984027C>T						TMEM183A_ENST00000468449.1_3'UTR	p.D126D	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		4	458	+								A8K5W1|Q6NW15|Q96E06	Silent	SNP	ENST00000367242.3	37	c.378C>T	CCDS1432.1																																																																																				0.398	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		11	18	0	0	0	1	0	11	18				
PIK3C2A	5286	broad.mit.edu	37	11	17112906	17112906	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17112906G>A	ENST00000265970.7	-	31	4852	c.4853C>T	c.(4852-4854)aCg>aTg	p.T1618M	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T1238M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1618	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CGGATTCCTCGTTTTTCGTGA	0.328																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4852-4854)aCg>aTg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						236.0	224.0	228.0					11																	17112906		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17112906G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4853C>T	11.37:g.17112906G>A	ENSP00000265970:p.Thr1618Met					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.T1238M|PIK3C2A_ENST00000531428.1_5'UTR	p.T1618M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			31	4852	-			1618			C2.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4853C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421785	0.83559	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.12039	2.72;2.72	5.31	5.31	0.75309	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63005	-0.6733	10	0.87932	D	0	-14.2901	19.0068	0.92854	0.0:0.0:1.0:0.0	.	1238;1618	F5H2B0;O00443	.;P3C2A_HUMAN	M	1618;1238	ENSP00000265970:T1618M;ENSP00000438687:T1238M	ENSP00000265970:T1618M	T	-	2	0	PIK3C2A	17069482	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.560000	0.98139	2.482000	0.83794	0.655000	0.94253	ACG		0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		28	52	0	0	0	1	0	28	52				
UGT3A2	167127	broad.mit.edu	37	5	36039662	36039662	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36039662C>T	ENST00000282507.3	-	5	1093	c.992G>A	c.(991-993)tGt>tAt	p.C331Y	UGT3A2_ENST00000545528.1_Missense_Mutation_p.C29Y|UGT3A2_ENST00000513300.1_Missense_Mutation_p.C297Y|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	331					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAACACTGACACTTCCATAT	0.517																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(991-993)tGt>tAt		UDP glycosyltransferase 3 family, polypeptide A2							155.0	140.0	145.0					5																	36039662		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36039662C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.992G>A	5.37:g.36039662C>T	ENSP00000282507:p.Cys331Tyr					UGT3A2_ENST00000513300.1_Missense_Mutation_p.C297Y|UGT3A2_ENST00000545528.1_Missense_Mutation_p.C29Y	p.C331Y	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1093	-	all_lung(31;0.000179)		331					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.992G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777376	0.00640	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.53423	0.62;0.62;0.62	3.27	-2.89	0.05665	.	0.256826	0.33959	N	0.004387	T	0.15046	0.0363	N	0.02158	-0.66	0.09310	N	1	B;B	0.15930	0.0;0.015	B;B	0.14023	0.002;0.01	T	0.31166	-0.9953	10	0.02654	T	1	.	11.6743	0.51422	0.0:0.2319:0.0:0.7681	.	297;331	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	331;297;29	ENSP00000282507:C331Y;ENSP00000427404:C297Y;ENSP00000445367:C29Y	ENSP00000282507:C331Y	C	-	2	0	UGT3A2	36075419	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-1.079000	0.03410	-0.822000	0.04306	0.655000	0.94253	TGT		0.517	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		24	31	0	0	0	1	0	24	31				
PCDHB7	56129	broad.mit.edu	37	5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A	rs544763939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140554290G>A	ENST00000231137.3	+	1	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20098	0.0		0.0	False		,,,				2504	0.0					ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1873-1875)cGt>cAt									41.0	64.0	56.0					5																	140554290		2192	4286	6478	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554290G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1874G>A	5.37:g.140554290G>A	ENSP00000231137:p.Arg625His						p.R625H	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2048	+			625			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1874G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297906	0.60086	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71264	0.3319	M	0.90759	3.145	0.31134	N	0.707366	D	0.89917	1.0	D	0.91635	0.999	T	0.72472	-0.4283	9	0.66056	D	0.02	.	10.1242	0.42639	0.1713:0.0:0.8287:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	H	625	ENSP00000231137:R625H	ENSP00000231137:R625H	R	+	2	0	PCDHB7	140534474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.031000	0.49728	1.922000	0.55676	0.449000	0.29647	CGT		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		25	23	0	0	0	1	0	25	23				
CAPN11	11131	broad.mit.edu	37	6	44137677	44137677	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44137677G>A	ENST00000398776.1	+	4	412	c.374G>A	c.(373-375)gGg>gAg	p.G125E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G125E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	125	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCATGGATGGGATTTCTCCA	0.557																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(373-375)gGg>gAg		calpain 11							48.0	49.0	49.0					6																	44137677		1908	4116	6024	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44137677G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.374G>A	6.37:g.44137677G>A	ENSP00000381758:p.Gly125Glu					CAPN11_ENST00000542245.1_Missense_Mutation_p.G125E	p.G125E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	412	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		125			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.374G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855309	0.71719	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	D;D;D	0.94330	-3.4;-3.4;-3.4	4.15	3.27	0.37495	Peptidase C2, calpain, catalytic domain (3);	0.161122	0.30260	N	0.010030	D	0.96824	0.8963	H	0.95365	3.66	0.40832	D	0.983598	D	0.67145	0.996	D	0.70016	0.967	D	0.97244	0.9893	10	0.87932	D	0	.	11.1119	0.48237	0.0937:0.0:0.9063:0.0	.	125	Q9UMQ6	CAN11_HUMAN	E	125;125;155	ENSP00000381758:G125E;ENSP00000441078:G125E;ENSP00000432420:G155E	ENSP00000381758:G125E	G	+	2	0	CAPN11	44245655	1.000000	0.71417	0.043000	0.18650	0.057000	0.15508	6.409000	0.73289	1.312000	0.45043	0.655000	0.94253	GGG		0.557	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			3	14	0	0	0	1	0	3	14				
FAM154B	283726	broad.mit.edu	37	15	82574587	82574587	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82574587G>T	ENST00000339465.5	+	3	450	c.381G>T	c.(379-381)aaG>aaT	p.K127N	FAM154B_ENST00000427381.2_Missense_Mutation_p.K112N|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	127										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AGGAGATAAAGCCTAGGCAAA	0.398																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(379-381)aaG>aaT		family with sequence similarity 154, member B							138.0	139.0	139.0					15																	82574587		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82574587G>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.381G>T	15.37:g.82574587G>T	ENSP00000340445:p.Lys127Asn					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.K112N	p.K127N	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	450	+			127					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.381G>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	5.145	0.212345	0.09757	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.16897	2.31;2.31	3.34	2.41	0.29592	.	0.714754	0.12942	N	0.426494	T	0.11239	0.0274	L	0.35288	1.05	0.31880	N	0.618556	B;B	0.19445	0.007;0.036	B;B	0.17722	0.013;0.019	T	0.20940	-1.0260	10	0.18710	T	0.47	-8.7308	6.436	0.21823	0.1067:0.0:0.6671:0.2262	.	112;127	B4E2M2;Q658L1	.;F154B_HUMAN	N	127;112	ENSP00000340445:K127N;ENSP00000403743:K112N	ENSP00000340445:K127N	K	+	3	2	FAM154B	80361642	0.562000	0.26586	0.545000	0.28153	0.876000	0.50452	0.122000	0.15687	0.967000	0.38186	0.536000	0.68110	AAG		0.398	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		56	88	1	0	2.73361e-28	1	3.05982e-28	56	88				
PRKAR1B	5575	broad.mit.edu	37	7	618939	618939	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:618939A>G	ENST00000406797.1	-	9	1019	c.845T>C	c.(844-846)aTt>aCt	p.I282T	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.I282T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.I282T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	282					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGGACCACAATTTTCTCTCC	0.612																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(844-846)aTt>aCt		protein kinase, cAMP-dependent, regulatory, type I, beta							163.0	127.0	139.0					7																	618939		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:618939A>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.845T>C	7.37:g.618939A>G	ENSP00000385749:p.Ile282Thr					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.I282T|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.I282T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.I282T	p.I282T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	9	1019	-		Ovarian(82;0.0779)	282					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.845T>C	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587328	0.66105	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000340920;ENST00000430040	D;D;D;D;D;T	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;0.91	5.14	5.14	0.70334	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.98071	0.9364	M	0.93062	3.375	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.99126	1.0851	10	0.87932	D	0	0.1284	13.9603	0.64175	1.0:0.0:0.0:0.0	.	282	P31321	KAP1_HUMAN	T	282;282;282;282;282;47;282	ENSP00000440449:I282T;ENSP00000444487:I282T;ENSP00000385749:I282T;ENSP00000385349:I282T;ENSP00000353415:I282T;ENSP00000402648:I282T	ENSP00000340984:I47T	I	-	2	0	PRKAR1B	585465	1.000000	0.71417	0.657000	0.29651	0.203000	0.24098	8.217000	0.89766	1.935000	0.56089	0.444000	0.29173	ATT		0.612	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			31	52	0	0	0	1	0	31	52				
LLGL1	3996	broad.mit.edu	37	17	18141892	18141892	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18141892C>T	ENST00000316843.4	+	16	2271	c.2175C>T	c.(2173-2175)tgC>tgT	p.C725C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	725					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TCGTGCGTTGCCTATACTTTG	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(2173-2175)tgC>tgT		lethal giant larvae homolog 1 (Drosophila)							57.0	47.0	50.0					17																	18141892		2203	4300	6503	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18141892C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.2175C>T	17.37:g.18141892C>T							p.C725C	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			16	2271	+	all_neural(463;0.228)		725					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.2175C>T	CCDS32586.1																																																																																				0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	41	0	0	0	1	0	4	41				
ZNF518A	9849	broad.mit.edu	37	10	97916526	97916526	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:97916526A>G	ENST00000534948.1	+	0	1304							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTACCTTCATATCCTTGTG	0.368																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							149.0	148.0	148.0					10																	97916526		1889	4100	5989			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916526A>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916526A>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1304	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.368	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		46	74	0	0	0	1	0	46	74				
GDF7	151449	broad.mit.edu	37	2	20870397	20870397	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:20870397G>A	ENST00000272224.3	+	2	1141	c.565G>A	c.(565-567)Gcc>Acc	p.A189T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	189					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGGGCGCCGCCCGAGCGCC	0.736																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(565-567)Gcc>Acc		growth differentiation factor 7							7.0	8.0	8.0					2																	20870397		2148	4183	6331	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870397G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.565G>A	2.37:g.20870397G>A	ENSP00000272224:p.Ala189Thr						p.A189T	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1141	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		189						Missense_Mutation	SNP	ENST00000272224.3	37	c.565G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538732	0.27475	.	.	ENSG00000143869	ENST00000272224	T	0.63913	-0.07	3.74	2.86	0.33363	Transforming growth factor-beta, N-terminal (1);	1.986020	0.03266	N	0.183901	T	0.68988	0.3061	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.55222	0.771	T	0.54768	-0.8244	10	0.15499	T	0.54	.	11.3103	0.49360	0.091:0.0:0.909:0.0	.	189	Q7Z4P5	GDF7_HUMAN	T	189	ENSP00000272224:A189T	ENSP00000272224:A189T	A	+	1	0	GDF7	20733878	0.000000	0.05858	0.016000	0.15963	0.056000	0.15407	-0.337000	0.07852	0.919000	0.36945	0.462000	0.41574	GCC		0.736	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		5	8	0	0	0	1	0	5	8				
EP400	57634	broad.mit.edu	37	12	132446496	132446496	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:132446496C>T	ENST00000333577.4	+	2	1441	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	EP400_ENST00000332482.4_Silent_p.D444D|EP400_ENST00000330386.6_Silent_p.D444D|EP400_ENST00000389561.2_Silent_p.D444D|EP400_ENST00000389562.2_Silent_p.D444D			Q96L91	EP400_HUMAN	E1A binding protein p400	444					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTATCAATGACGAGGTAAGAA	0.378																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1330-1332)gaC>gaT		E1A binding protein p400							29.0	29.0	29.0					12																	132446496		2201	4297	6498	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446496C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1332C>T	12.37:g.132446496C>T						EP400_ENST00000332482.4_Silent_p.D444D|EP400_ENST00000389561.2_Silent_p.D444D|EP400_ENST00000389562.2_Silent_p.D444D|EP400_ENST00000330386.6_Silent_p.D444D	p.D444D			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	1441	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	444					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1332C>T																																																																																					0.378	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	15	0	0	0	1	0	7	15				
USP16	10600	broad.mit.edu	37	21	30415788	30415788	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:30415788G>T	ENST00000334352.4	+	14	1455	c.1224G>T	c.(1222-1224)gtG>gtT	p.V408V	USP16_ENST00000399976.2_Silent_p.V408V|USP16_ENST00000399975.3_Silent_p.V407V|USP16_ENST00000535828.1_Silent_p.V37V	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAAAGACAGTGGAGGATGAAG	0.308																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1222-1224)gtG>gtT		ubiquitin specific peptidase 16							78.0	71.0	73.0					21																	30415788		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30415788G>T	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1224G>T	21.37:g.30415788G>T						USP16_ENST00000535828.1_Silent_p.V37V|USP16_ENST00000399975.3_Silent_p.V407V|USP16_ENST00000399976.2_Silent_p.V408V	p.V408V	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			14	1455	+			408						Silent	SNP	ENST00000334352.4	37	c.1224G>T	CCDS13583.1																																																																																				0.308	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			15	10	1	0	0.000422831	1	0.000430994	15	10				
PCYOX1	51449	broad.mit.edu	37	2	70502099	70502099	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70502099G>A	ENST00000433351.2	+	4	531	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90H|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91H|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168H	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	168					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AGGATCTACCGCTACCAGTCT	0.403																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(502-504)cGc>cAc		prenylcysteine oxidase 1							119.0	110.0	113.0					2																	70502099		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502099G>A	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.503G>A	2.37:g.70502099G>A	ENSP00000387654:p.Arg168His					PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168H|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91H|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90H	p.R168H	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			4	531	+			168					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.503G>A	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832688	0.71258	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T;T	0.15487	2.42;2.97;2.42;2.97;2.97;2.42;2.97	5.4	5.4	0.78164	Prenylcysteine lyase (1);	0.047613	0.85682	D	0.000000	T	0.35970	0.0950	L	0.49640	1.575	0.48341	D	0.999636	P;D	0.89917	0.68;1.0	B;D	0.68943	0.121;0.961	T	0.00538	-1.1682	10	0.35671	T	0.21	-9.0745	17.9005	0.88902	0.0:0.0:1.0:0.0	.	150;168	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	H	91;91;91;168;168;91;90	ENSP00000404327:R91H;ENSP00000441566:R91H;ENSP00000413178:R91H;ENSP00000387654:R168H;ENSP00000264441:R168H;ENSP00000408751:R91H;ENSP00000439916:R90H	ENSP00000264441:R168H	R	+	2	0	PCYOX1	70355603	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.405000	0.80007	2.811000	0.96726	0.555000	0.69702	CGC		0.403	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		26	34	0	0	0	1	0	26	34				
LMNA	4000	broad.mit.edu	37	1	156100518	156100518	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156100518G>A	ENST00000368300.4	+	2	679	c.467G>A	c.(466-468)cGc>cAc	p.R156H	LMNA_ENST00000347559.2_Missense_Mutation_p.R156H|LMNA_ENST00000473598.2_Missense_Mutation_p.R57H|LMNA_ENST00000368301.2_Missense_Mutation_p.R156H|LMNA_ENST00000368299.3_Missense_Mutation_p.R156H|LMNA_ENST00000361308.4_Missense_Mutation_p.R156H|LMNA_ENST00000392353.3_Missense_Mutation_p.R75H|LMNA_ENST00000448611.2_Missense_Mutation_p.R44H|LMNA_ENST00000368297.1_Missense_Mutation_p.R75H	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	156	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGTGAGAAGCGCACGCTGGAG	0.632									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(466-468)cGc>cAc		lamin A/C							24.0	22.0	23.0					1																	156100518		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156100518G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.467G>A	1.37:g.156100518G>A	ENSP00000357283:p.Arg156His		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1775	LMNA_ENST00000392353.3_Missense_Mutation_p.R75H|LMNA_ENST00000368297.1_Missense_Mutation_p.R75H|LMNA_ENST00000368299.3_Missense_Mutation_p.R156H|LMNA_ENST00000448611.2_Missense_Mutation_p.R44H|LMNA_ENST00000361308.4_Missense_Mutation_p.R156H|LMNA_ENST00000368301.2_Missense_Mutation_p.R156H|LMNA_ENST00000347559.2_Missense_Mutation_p.R156H|LMNA_ENST00000473598.2_Missense_Mutation_p.R57H	p.R156H	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			2	679	+	Hepatocellular(266;0.158)		156			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.467G>A	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416758	0.83449	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-1.69;-2.09;-2.09;-2.09;-1.69;-1.69;-1.69;-1.69;-1.69	5.59	5.59	0.84812	Filament (1);	0.000000	0.53938	D	0.000043	D	0.92260	0.7545	M	0.76574	2.34	0.58432	D	0.999998	P;D;P;D;D;P;D	0.89917	0.607;0.997;0.877;1.0;0.994;0.738;0.999	B;D;P;D;D;B;D	0.77557	0.362;0.96;0.581;0.99;0.96;0.19;0.955	D	0.92608	0.6097	10	0.66056	D	0.02	.	17.0835	0.86604	0.0:0.0:1.0:0.0	.	44;156;57;75;156;156;156	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	H	156;156;156;156;156;156;156;44;75;73;57;75	ENSP00000357284:R156H;ENSP00000292304:R156H;ENSP00000355292:R156H;ENSP00000357283:R156H;ENSP00000357282:R156H;ENSP00000395597:R44H;ENSP00000357280:R75H;ENSP00000426535:R73H;ENSP00000421821:R57H;ENSP00000376164:R75H	ENSP00000292302:R156H	R	+	2	0	LMNA	154367142	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.757000	0.74924	2.635000	0.89317	0.655000	0.94253	CGC		0.632	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		9	8	0	0	0	1	0	9	8				
ASNA1	439	broad.mit.edu	37	19	12856477	12856477	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12856477C>T	ENST00000591090.1	+	5	615	c.513C>T	c.(511-513)ggC>ggT	p.G171G	ASNA1_ENST00000357332.3_Silent_p.G171G					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CACCCACGGGCCACACCCTGA	0.612																																						ENST00000591090.1																			0				endometrium(1)|lung(6)|ovary(3)	10						c.(511-513)ggC>ggT		arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	Adenosine triphosphate(DB00171)						60.0	62.0	62.0					19																	12856477		2203	4300	6503	SO:0001819	synonymous_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856477C>T	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.513C>T	19.37:g.12856477C>T						ASNA1_ENST00000357332.3_Silent_p.G171G	p.G171G			O43681	ASNA_HUMAN			5	615	+			171						Silent	SNP	ENST00000591090.1	37	c.513C>T	CCDS32920.1																																																																																				0.612	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		20	11	0	0	0	1	0	20	11				
AMMECR1L	83607	broad.mit.edu	37	2	128631466	128631466	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:128631466C>T	ENST00000272647.5	-	3	603	c.343G>A	c.(343-345)Gta>Ata	p.V115I	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V115I	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	115	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CAGTAGAGTACGTCGAAGCAG	0.552																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(343-345)Gta>Ata		AMMECR1-like							171.0	167.0	168.0					2																	128631466		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128631466C>T		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.343G>A	2.37:g.128631466C>T	ENSP00000272647:p.Val115Ile					AMMECR1L_ENST00000393001.1_Missense_Mutation_p.V115I	p.V115I	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	3	603	-	Colorectal(110;0.1)		115			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.343G>A	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797058	0.90453	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.39	5.39	0.77823	AMMECR1 domain (2);	0.000000	0.64402	D	0.000002	T	0.63510	0.2517	M	0.77103	2.36	0.80722	D	1	P	0.52316	0.952	B	0.42593	0.392	T	0.69862	-0.5030	9	0.49607	T	0.09	-24.0506	19.1586	0.93522	0.0:1.0:0.0:0.0	.	115	Q6DCA0	AMERL_HUMAN	I	115	.	ENSP00000272647:V115I	V	-	1	0	AMMECR1L	128347936	1.000000	0.71417	0.255000	0.24374	0.856000	0.48823	7.440000	0.80464	2.532000	0.85374	0.655000	0.94253	GTA		0.552	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		37	56	0	0	0	1	0	37	56				
DUOX2	50506	broad.mit.edu	37	15	45404113	45404113	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45404113G>A	ENST00000603300.1	-	5	568	c.366C>T	c.(364-366)ccC>ccT	p.P122P	DUOX2_ENST00000389039.6_Silent_p.P122P|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	122	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGGGGCAACCGGGCGTTTCCA	0.662																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(364-366)ccC>ccT		dual oxidase 2							32.0	31.0	31.0					15																	45404113		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404113G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.366C>T	15.37:g.45404113G>A						DUOX2_ENST00000603300.1_Silent_p.P122P	p.P122P			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	5	751	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	122			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.366C>T	CCDS10117.1																																																																																				0.662	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		6	11	0	0	0	1	0	6	11				
RBM28	55131	broad.mit.edu	37	7	127979741	127979741	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:127979741C>T	ENST00000223073.2	-	2	337	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	75	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCAACAGTCACGTTGATCTTG	0.438																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(223-225)Gtg>Atg		RNA binding motif protein 28							170.0	166.0	168.0					7																	127979741		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127979741C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.223G>A	7.37:g.127979741C>T	ENSP00000223073:p.Val75Met					RBM28_ENST00000415472.2_Intron	p.V75M	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			2	337	-			75			RRM 1.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.223G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515017	0.44763	.	.	ENSG00000106344	ENST00000223073;ENST00000478061;ENST00000459726	T;T;T	0.58210	0.35;2.72;2.72	5.85	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.116872	0.56097	D	0.000025	T	0.55561	0.1928	M	0.90759	3.145	0.80722	D	1	B	0.24258	0.1	B	0.21151	0.033	T	0.55471	-0.8136	10	0.87932	D	0	-6.646	6.1328	0.20215	0.1399:0.6515:0.1348:0.0738	.	75	Q9NW13	RBM28_HUMAN	M	75;75;109	ENSP00000223073:V75M;ENSP00000418071:V75M;ENSP00000420503:V109M	ENSP00000223073:V75M	V	-	1	0	RBM28	127766977	0.564000	0.26602	0.048000	0.18961	0.604000	0.37047	1.199000	0.32235	0.379000	0.24794	-0.156000	0.13503	GTG		0.438	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		30	60	0	0	0	1	0	30	60				
ZP1	22917	broad.mit.edu	37	11	60643128	60643128	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:60643128G>A	ENST00000278853.5	+	12	1916	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AACAGACAGTGAATGGGCCCA	0.478																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1915-1917)tGa>tAa		zona pellucida glycoprotein 1 (sperm receptor)							63.0	57.0	59.0					11																	60643128		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60643128G>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1916G>A	11.37:g.60643128G>A							p.*639*	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			12	1916	+			0						Silent	SNP	ENST00000278853.5	37	c.1916G>A	CCDS31572.1																																																																																				0.478	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		6	11	0	0	0	1	0	6	11				
CDKL1	8814	broad.mit.edu	37	14	50796808	50796808	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:50796808C>T	ENST00000395834.1	-	9	1088	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	ATP5S_ENST00000358473.1_Intron|RP11-247L20.4_ENST00000555403.1_lincRNA	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	353					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTTTGGAAAACGGTAGTTAAG	0.343																																						ENST00000395834.1																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(1060-1062)cGt>cAt		cyclin-dependent kinase-like 1 (CDC2-related kinase)							100.0	92.0	95.0					14																	50796808		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50796808C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.1061G>A	14.37:g.50796808C>T	ENSP00000379176:p.Arg354His					ATP5S_ENST00000358473.1_Intron	p.R354H	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN			9	1088	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		353					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	c.1061G>A	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558387	0.03967	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.11	-7.16	0.01516	.	.	.	.	.	T	0.36908	0.0984	N	0.05124	-0.11	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.42155	-0.9468	9	0.02654	T	1	.	17.0088	0.86400	0.0:0.3446:0.0:0.6554	.	353	Q00532	CDKL1_HUMAN	H	354	ENSP00000379176:R354H	ENSP00000379176:R354H	R	-	2	0	CDKL1	49866558	0.000000	0.05858	0.001000	0.08648	0.791000	0.44710	-0.357000	0.07651	-1.878000	0.01128	-1.871000	0.00553	CGT		0.343	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2			17	45	0	0	0	1	0	17	45				
AGTPBP1	23287	broad.mit.edu	37	9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1357-1359)cGt>cAt		ATP/GTP binding protein 1							57.0	61.0	60.0					9																	88248234		2192	4275	6467	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88248234C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1358G>A	9.37:g.88248234C>T	ENSP00000349592:p.Arg453His					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H	p.R453H			Q9UPW5	CBPC1_HUMAN			14	1502	-			453					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1358G>A		.	.	.	.	.	.	.	.	.	.	C	12.04	1.819254	0.32145	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.44482	2.25;2.26;2.24;0.92	6.07	4.17	0.49024	.	0.516933	0.22063	N	0.065157	T	0.30293	0.0760	N	0.14661	0.345	0.19300	N	0.999977	D;D;B;D	0.61697	0.99;0.958;0.224;0.988	P;B;B;P	0.50617	0.459;0.361;0.018;0.646	T	0.06716	-1.0811	10	0.22706	T	0.39	-0.2971	7.0986	0.25323	0.1359:0.7169:0.0:0.1473	.	465;453;291;413	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	H	453;413;465;291	ENSP00000349592:R453H;ENSP00000365251:R413H;ENSP00000365277:R465H;ENSP00000402804:R291H	ENSP00000349592:R453H	R	-	2	0	AGTPBP1	87438054	0.001000	0.12720	0.002000	0.10522	0.898000	0.52572	1.119000	0.31258	0.835000	0.34877	-0.355000	0.07637	CGT		0.333	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		32	52	0	0	0	1	0	32	52				
PIGG	54872	broad.mit.edu	37	4	527766	527766	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:527766C>T	ENST00000453061.2	+	12	2837	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	PIGG_ENST00000310340.5_Missense_Mutation_p.R903C|PIGG_ENST00000504346.1_Missense_Mutation_p.R822C|PIGG_ENST00000383028.4_Missense_Mutation_p.R778C|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	911					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTCAGAAACACGCAGGTGAGG	0.597																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2731-2733)Cgc>Tgc		phosphatidylinositol glycan anchor biosynthesis, class G							59.0	54.0	56.0					4																	527766		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:527766C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2731C>T	4.37:g.527766C>T	ENSP00000415203:p.Arg911Cys					PIGG_ENST00000310340.5_Missense_Mutation_p.R903C|PIGG_ENST00000504346.1_Missense_Mutation_p.R822C|PIGG_ENST00000383028.4_Missense_Mutation_p.R778C|PIGG_ENST00000296306.7_3'UTR	p.R911C	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			12	2837	+			911					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.2731C>T	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873446	0.33069	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	3.16	0.36331	.	0.976929	0.08500	N	0.936594	T	0.26195	0.0639	N	0.22421	0.69	0.18873	N	0.999983	P;P;P	0.39282	0.666;0.536;0.666	B;B;B	0.39419	0.299;0.157;0.299	T	0.15752	-1.0426	10	0.41790	T	0.15	-7.9671	6.7489	0.23475	0.5431:0.3165:0.0:0.1404	.	778;911;903	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	C	903;911;822;778;67	ENSP00000311750:R903C;ENSP00000415203:R911C;ENSP00000424800:R822C;ENSP00000372494:R778C	ENSP00000311750:R903C	R	+	1	0	PIGG	517766	0.003000	0.15002	0.251000	0.24312	0.639000	0.38242	1.174000	0.31932	0.474000	0.27392	-0.457000	0.05445	CGC		0.597	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		12	20	0	0	0	1	0	12	20				
PCYT1A	5130	broad.mit.edu	37	3	195968904	195968904	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195968904C>T	ENST00000292823.2	-	8	795	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PCYT1A_ENST00000419333.1_Missense_Mutation_p.R208Q|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R208Q	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	208					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CCGCACAATTCGGGTGATGAT	0.483																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(622-624)cGa>cAa		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						146.0	123.0	131.0					3																	195968904		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195968904C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.623G>A	3.37:g.195968904C>T	ENSP00000292823:p.Arg208Gln					PCYT1A_ENST00000419333.1_Missense_Mutation_p.R208Q|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R208Q	p.R208Q	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	8	795	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		208			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.623G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808046	0.96967	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.65	5.65	0.86999	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99058	0.9677	H	0.99156	4.45	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	D	0.99177	1.0866	10	0.87932	D	0	-55.2098	18.7797	0.91926	0.0:1.0:0.0:0.0	.	208	P49585	PCY1A_HUMAN	Q	208;208;169;208;208;81;142	ENSP00000390968:R208Q;ENSP00000292823:R208Q;ENSP00000394617:R208Q;ENSP00000400430:R208Q;ENSP00000390458:R81Q;ENSP00000402283:R142Q	ENSP00000292823:R208Q	R	-	2	0	PCYT1A	197453301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.685000	0.91497	0.650000	0.86243	CGA		0.483	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		36	48	0	0	0	1	0	36	48				
DAGLB	221955	broad.mit.edu	37	7	6474468	6474468	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:6474468G>A	ENST00000297056.6	-	4	772	c.603C>T	c.(601-603)tgC>tgT	p.C201C	DAGLB_ENST00000436575.1_Silent_p.C160C|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000428902.2_Silent_p.C74C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	201					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAATGCAACAGCACAAGAGCT	0.502																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(601-603)tgC>tgT		diacylglycerol lipase, beta							177.0	168.0	171.0					7																	6474468		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6474468G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.603C>T	7.37:g.6474468G>A						DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Silent_p.C74C|DAGLB_ENST00000436575.1_Silent_p.C160C	p.C201C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	4	772	-		Ovarian(82;0.232)	201					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.603C>T	CCDS5350.1																																																																																				0.502	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		13	131	0	0	0	1	0	13	131				
SIMC1	375484	broad.mit.edu	37	5	175763860	175763860	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175763860C>T	ENST00000443967.1	+	10	2659	c.2252C>T	c.(2251-2253)aCg>aTg	p.T751M	SIMC1_ENST00000332772.4_Missense_Mutation_p.T212M|SIMC1_ENST00000341199.6_Missense_Mutation_p.T336M|SIMC1_ENST00000430704.2_Missense_Mutation_p.T336M			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	751							SUMO polymer binding (GO:0032184)										AATAATTCTACGTCACTGCTC	0.502																																						ENST00000443967.1																			0											c.(2251-2253)aCg>aTg		SUMO-interacting motifs containing 1							66.0	66.0	66.0					5																	175763860		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175763860C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2252C>T	5.37:g.175763860C>T	ENSP00000406571:p.Thr751Met					SIMC1_ENST00000430704.2_Missense_Mutation_p.T336M|SIMC1_ENST00000341199.6_Missense_Mutation_p.T336M|SIMC1_ENST00000332772.4_Missense_Mutation_p.T212M	p.T751M							10	2659	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2252C>T		.	.	.	.	.	.	.	.	.	.	C	12.22	1.871762	0.33069	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.86	3.96	0.45880	.	0.235397	0.33980	N	0.004368	T	0.64136	0.2571	L	0.48642	1.525	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.966;0.95;0.994	T	0.66693	-0.5859	10	0.87932	D	0	-7.3412	12.0603	0.53559	0.0:0.8261:0.1739:0.0	.	212;336;751	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	M	336;336;751;212	ENSP00000342075:T336M;ENSP00000409287:T336M;ENSP00000406571:T751M;ENSP00000331311:T212M	ENSP00000331311:T212M	T	+	2	0	C5orf25	175696466	0.848000	0.29623	0.760000	0.31359	0.192000	0.23643	2.459000	0.45023	1.215000	0.43411	0.467000	0.42956	ACG		0.502	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		15	26	0	0	0	1	0	15	26				
MROH6	642475	broad.mit.edu	37	8	144654782	144654782	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:144654782G>A	ENST00000398882.3	-	1	359	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	MROH6_ENST00000533679.1_5'Flank|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	35																	GGTCCCTGGGGCTGCCCCTGC	0.706																																						ENST00000398882.3																			0											c.(103-105)Ccc>Tcc		maestro heat-like repeat family member 6							10.0	13.0	12.0					8																	144654782		1876	4088	5964	SO:0001583	missense	642475							g.chr8:144654782G>A	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.103C>T	8.37:g.144654782G>A	ENSP00000381857:p.Pro35Ser						p.P35S	NM_001100878.1	NP_001094348.1					1	359	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.103C>T	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	g	10.93	1.489225	0.26686	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.28069	3.81;1.63	4.66	-2.38	0.06622	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.19775	N	0.999952	B;B	0.12013	0.005;0.0	B;B	0.10450	0.005;0.002	T	0.27571	-1.0070	9	0.20046	T	0.44	-13.4725	1.1474	0.01778	0.1583:0.2497:0.3051:0.2869	.	35;35	E9PPP7;A6NGR9	.;CH073_HUMAN	S	35	ENSP00000381857:P35S;ENSP00000436959:P35S	ENSP00000381857:P35S	P	-	1	0	C8orf73	144725925	0.012000	0.17670	0.003000	0.11579	0.038000	0.13279	0.957000	0.29215	-0.850000	0.04152	-1.024000	0.02432	CCC		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		4	6	0	0	0	1	0	4	6				
TECTA	7007	broad.mit.edu	37	11	121000865	121000865	+	Silent	SNP	C	C	T	rs138065050	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:121000865C>T	ENST00000392793.1	+	10	3157	c.2886C>T	c.(2884-2886)agC>agT	p.S962S	TECTA_ENST00000264037.2_Silent_p.S962S			O75443	TECTA_HUMAN	tectorin alpha	962					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGTATGCAAGCGCCTGCAAGA	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17165	0.0		0.001	False		,,,				2504	0.0					ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2884-2886)agC>agT		tectorin alpha		C		2,4404	4.2+/-10.8	0,2,2201	58.0	61.0	60.0		2886	-4.0	0.0	11	dbSNP_134	60	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231		962/2156	121000865	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000865C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2886C>T	11.37:g.121000865C>T						TECTA_ENST00000264037.2_Silent_p.S962S	p.S962S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3157	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	962						Silent	SNP	ENST00000392793.1	37	c.2886C>T	CCDS8434.1																																																																																				0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		16	31	0	0	0	1	0	16	31				
SLC22A14	9389	broad.mit.edu	37	3	38354889	38354889	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38354889C>T	ENST00000273173.4	+	6	1167	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P359L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	359					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCAGCTGCCCAGAAAGAAG	0.592																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1075-1077)cCc>cTc		solute carrier family 22, member 14							107.0	101.0	103.0					3																	38354889		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38354889C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1076C>T	3.37:g.38354889C>T	ENSP00000273173:p.Pro359Leu					SLC22A14_ENST00000448498.1_Missense_Mutation_p.P359L	p.P359L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	6	1167	+			359					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1076C>T	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792579	0.31685	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.73575	-0.76;-0.76	3.4	0.351	0.16042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.438596	0.22957	N	0.053596	T	0.67221	0.2870	L	0.46885	1.475	0.09310	N	1	P	0.43352	0.804	P	0.47346	0.544	T	0.59413	-0.7459	10	0.62326	D	0.03	.	4.0023	0.09585	0.4128:0.4665:0.0:0.1207	.	359	Q9Y267	S22AE_HUMAN	L	359	ENSP00000396283:P359L;ENSP00000273173:P359L	ENSP00000273173:P359L	P	+	2	0	SLC22A14	38329893	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.165000	0.16564	0.050000	0.15949	-0.500000	0.04577	CCC		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		31	51	0	0	0	1	0	31	51				
RAD9A	5883	broad.mit.edu	37	11	67163738	67163738	+	Missense_Mutation	SNP	G	G	A	rs566306211		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67163738G>A	ENST00000307980.2	+	9	832	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	247					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCAGGCCCGCCATCTTCAC	0.632								Other conserved DNA damage response genes					g|||	1	0.000199681	0.0	0.0	5008	,	,		16040	0.0		0.0	False		,,,				2504	0.001					ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(739-741)Gcc>Acc	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							134.0	137.0	136.0					11																	67163738		2200	4295	6495	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163738G>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.739G>A	11.37:g.67163738G>A	ENSP00000311360:p.Ala247Thr					RAD9A_ENST00000535644.1_3'UTR	p.A247T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	832	+			247					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.739G>A	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682004	0.47991	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.24151	1.87;1.87	4.64	4.64	0.57946	.	0.133831	0.50627	D	0.000110	T	0.35480	0.0933	L	0.50333	1.59	0.38909	D	0.957498	D;D	0.61697	0.963;0.99	B;P	0.51974	0.269;0.686	T	0.30995	-0.9959	10	0.66056	D	0.02	-13.4715	14.4393	0.67303	0.0:0.0:1.0:0.0	.	233;247	F5H4F1;Q99638	.;RAD9A_HUMAN	T	247;233	ENSP00000311360:A247T;ENSP00000444979:A233T	ENSP00000311360:A247T	A	+	1	0	RAD9A	66920314	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	7.171000	0.77595	2.139000	0.66308	0.561000	0.74099	GCC		0.632	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		35	53	0	0	0	1	0	35	53				
KDR	3791	broad.mit.edu	37	4	55955037	55955037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55955037G>A	ENST00000263923.4	-	26	3803	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1170					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACAAACCTGCTGAGCATTA	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3508-3510)Cag>Tag		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						112.0	103.0	106.0					4																	55955037		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955037G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3508C>T	4.37:g.55955037G>A	ENSP00000263923:p.Gln1170*	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.Q1170*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		26	3803	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1170					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3508C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	9.979997	0.99309	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.5878	0.95496	0.0:0.0:1.0:0.0	.	.	.	.	X	1170	.	ENSP00000263923:Q1170X	Q	-	1	0	KDR	55649794	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	9.434000	0.97515	2.711000	0.92665	0.467000	0.42956	CAG		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			6	20	0	0	0	1	0	6	20				
MYO1H	283446	broad.mit.edu	37	12	109876340	109876340	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109876340G>A	ENST00000431443.2	+	22	2191		c.e22-1		MYO1H_ENST00000310903.5_Splice_Site	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH							myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AACTCTTTCAGCCATCAAACT	0.498																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e23-1		myosin IH							35.0	35.0	35.0					12																	109876340		1915	4129	6044	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109876340G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2192-1G>A	12.37:g.109876340G>A						MYO1H_ENST00000431443.2_Splice_Site				B4DNW6	B4DNW6_HUMAN			23	2267	+								F5H3C6	Splice_Site	SNP	ENST00000431443.2	37			.	.	.	.	.	.	.	.	.	.	G	23.4	4.415858	0.83449	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.092	0.81098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1H	108360723	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	8.246000	0.89828	2.385000	0.81259	0.655000	0.94253	.		0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Intron	3	8	0	0	0	1	0	3	8				
RXRA	6256	broad.mit.edu	37	9	137313559	137313559	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:137313559A>G	ENST00000481739.1	+	6	870	c.818A>G	c.(817-819)gAc>gGc	p.D273G	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.D176G	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	273	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CAAGCAGCCGACAAACAGCTT	0.582																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(526-528)gAc>gGc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						197.0	164.0	175.0					9																	137313559		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137313559A>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.818A>G	9.37:g.137313559A>G	ENSP00000419692:p.Asp273Gly					RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.D273G	p.D176G			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	5	1450	+			273					B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.527A>G	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352613	0.82132	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96802	-4.13;-4.13	4.51	4.51	0.55191	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98027	0.9350	M	0.90252	3.1	0.80722	D	1	P;P	0.47677	0.594;0.899	P;P	0.59703	0.707;0.862	D	0.98886	1.0771	10	0.72032	D	0.01	.	13.8515	0.63499	1.0:0.0:0.0:0.0	.	176;273	B3KY83;P19793	.;RXRA_HUMAN	G	273;176	ENSP00000419692:D273G;ENSP00000442123:D176G	ENSP00000419692:D273G	D	+	2	0	RXRA	136453380	1.000000	0.71417	0.983000	0.44433	0.826000	0.46750	8.849000	0.92178	1.669000	0.50854	0.397000	0.26171	GAC		0.582	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		26	75	0	0	0	1	0	26	75				
ULK2	9706	broad.mit.edu	37	17	19705103	19705103	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19705103T>C	ENST00000395544.4	-	16	1927	c.1428A>G	c.(1426-1428)tcA>tcG	p.S476S	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Silent_p.S476S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	476					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AAGGGGAAGGTGAGTAAGGCC	0.473																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1426-1428)tcA>tcG		unc-51 like autophagy activating kinase 2							147.0	146.0	146.0					17																	19705103		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705103T>C	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1428A>G	17.37:g.19705103T>C						ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Silent_p.S476S	p.S476S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			16	1927	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		476					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.1428A>G	CCDS11213.1																																																																																				0.473	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		34	52	0	0	0	1	0	34	52				
USP35	57558	broad.mit.edu	37	11	77918623	77918623	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:77918623T>G	ENST00000529308.1	+	8	1700	c.1439T>G	c.(1438-1440)cTg>cGg	p.L480R	USP35_ENST00000441408.2_Missense_Mutation_p.L66R|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.L211R|USP35_ENST00000530267.1_Missense_Mutation_p.L48R	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	480	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCACAGCCCCTGATGACCAAG	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1438-1440)cTg>cGg		ubiquitin specific peptidase 35							113.0	111.0	112.0					11																	77918623		2019	4174	6193	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77918623T>G	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1439T>G	11.37:g.77918623T>G	ENSP00000431876:p.Leu480Arg					USP35_ENST00000526425.1_Missense_Mutation_p.L211R|USP35_ENST00000530267.1_Missense_Mutation_p.L48R|USP35_ENST00000441408.2_Missense_Mutation_p.L66R|USP35_ENST00000530535.1_Intron	p.L480R	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		8	1700	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		480						Missense_Mutation	SNP	ENST00000529308.1	37	c.1439T>G	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052431	0.55218	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.337361	0.20480	N	0.091501	T	0.68924	0.3054	M	0.86953	2.85	0.39950	D	0.974528	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76517	-0.2930	10	0.87932	D	0	-18.6292	14.5595	0.68126	0.0:0.0:0.0:1.0	.	480;66	Q9P2H5;E7EWV7	UBP35_HUMAN;.	R	48;236;480;66;211	ENSP00000435468:L48R;ENSP00000436001:L236R;ENSP00000431876:L480R;ENSP00000400825:L66R;ENSP00000434942:L211R	ENSP00000400825:L66R	L	+	2	0	USP35	77596271	1.000000	0.71417	0.945000	0.38365	0.882000	0.50991	6.652000	0.74377	2.035000	0.60131	0.482000	0.46254	CTG		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		53	63	0	0	0	1	0	53	63				
SEMA3E	9723	broad.mit.edu	37	7	82997121	82997121	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82997121C>T	ENST00000307792.3	-	17	2576	c.2109G>A	c.(2107-2109)tcG>tcA	p.S703S	SEMA3E_ENST00000427262.1_Silent_p.S643S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	703					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTGCTCCCTGCGAGATGCTAC	0.478																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2107-2109)tcG>tcA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							138.0	122.0	127.0					7																	82997121		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997121C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2109G>A	7.37:g.82997121C>T						SEMA3E_ENST00000427262.1_Silent_p.S643S	p.S703S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			17	2576	-		Medulloblastoma(109;0.109)	703					B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.2109G>A	CCDS34674.1																																																																																				0.478	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		41	65	0	0	0	1	0	41	65				
ZNF793	390927	broad.mit.edu	37	19	38028574	38028574	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028574G>A	ENST00000587143.1	+	6	1249	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P	ZNF793_ENST00000445217.1_Silent_p.P338P|ZNF793_ENST00000542455.1_Silent_p.P338P|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAAGACCGTATCGTTGCA	0.453																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1012-1014)ccG>ccA		zinc finger protein 793							93.0	104.0	100.0					19																	38028574		2170	4281	6451	SO:0001819	synonymous_variant	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028574G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1014G>A	19.37:g.38028574G>A						ZNF793_ENST00000587143.1_Silent_p.P338P|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.P338P	p.P338P			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1049	+			338					E9PGN4|Q7Z3Q9	Silent	SNP	ENST00000587143.1	37	c.1014G>A	CCDS46062.1																																																																																				0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		14	20	0	0	0	1	0	14	20				
B3GNT1	11041	broad.mit.edu	37	11	66114449	66114449	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66114449C>T	ENST00000311181.4	-	1	714	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	190					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCCACCCTGGCTAGCTTGTCA	0.642																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(568-570)Gcc>Acc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							37.0	36.0	36.0					11																	66114449		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114449C>T	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.568G>A	11.37:g.66114449C>T	ENSP00000309096:p.Ala190Thr						p.A190T	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	714	-			190					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.568G>A	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248379	0.39797	.	.	ENSG00000174684	ENST00000311181	T	0.22743	1.94	5.31	5.31	0.75309	.	0.275494	0.35585	N	0.003107	T	0.17450	0.0419	L	0.43152	1.355	0.45015	D	0.998036	P	0.36438	0.553	B	0.32465	0.146	T	0.03695	-1.1012	10	0.09084	T	0.74	-26.205	16.8241	0.85926	0.0:1.0:0.0:0.0	.	190	O43505	B3GN1_HUMAN	T	190	ENSP00000309096:A190T	ENSP00000309096:A190T	A	-	1	0	B3GNT1	65871025	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.410000	0.59774	2.657000	0.90304	0.462000	0.41574	GCC		0.642	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		8	30	0	0	0	1	0	8	30				
SPATA31A6	389730	broad.mit.edu	37	9	43627507	43627507	+	Missense_Mutation	SNP	C	C	T	rs540283630	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43627507C>T	ENST00000332857.6	-	4	1208	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	394					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGAGGTCCGGGCAGCTGT	0.498													C|||	2	0.000399361	0.0	0.0029	5008	,	,		13270	0.0		0.0	False		,,,				2504	0.0					ENST00000332857.6																			0											c.(1180-1182)Gga>Aga		SPATA31 subfamily A, member 6							1.0	2.0	2.0					9																	43627507		405	1121	1526	SO:0001583	missense	389730							g.chr9:43627507C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1180G>A	9.37:g.43627507C>T	ENSP00000329825:p.Gly394Arg						p.G394R	NM_001145196.1	NP_001138668.1					4	1208	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1180G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	3.723	-0.057209	0.07317	.	.	ENSG00000185775	ENST00000332857	T	0.03745	3.82	2.5	-4.99	0.03010	.	1.889910	0.02325	N	0.073340	T	0.02156	0.0067	N	0.20685	0.6	0.09310	N	1	P	0.35242	0.492	B	0.29663	0.105	T	0.36187	-0.9758	10	0.23302	T	0.38	4.2557	3.0173	0.06064	0.3203:0.2558:0.0:0.4238	.	394	Q5VVP1	F75A6_HUMAN	R	394	ENSP00000329825:G394R	ENSP00000329825:G394R	G	-	1	0	FAM75A6	43567503	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.505000	0.00963	-1.556000	0.01695	-1.161000	0.01788	GGA		0.498	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		96	119	0	0	0	1	0	96	119				
TOP2A	7153	broad.mit.edu	37	17	38564352	38564352	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38564352G>A	ENST00000423485.1	-	12	1525	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	456	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAGGATAAGCGTACACTCAGT	0.393																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1366-1368)aCg>aTg		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						48.0	45.0	46.0					17																	38564352		1842	4080	5922	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564352G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1367C>T	17.37:g.38564352G>A	ENSP00000411532:p.Thr456Met						p.T456M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1525	-		Breast(137;0.00328)	456					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1367C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501087	0.85176	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26660	1.72	5.36	5.36	0.76844	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.57613	-0.7781	10	0.87932	D	0	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	456	P11388	TOP2A_HUMAN	M	456;536;479;492	ENSP00000411532:T456M	ENSP00000269577:T536M	T	-	2	0	TOP2A	35817878	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	9.845000	0.99498	2.515000	0.84797	0.591000	0.81541	ACG		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			23	16	0	0	0	1	0	23	16				
CRAT	1384	broad.mit.edu	37	9	131864769	131864769	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131864769G>A	ENST00000318080.2	-	5	834	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	180					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCGGCACTCGGCAGGAGGACA	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(538-540)tgC>tgT		carnitine O-acetyltransferase	L-Carnitine(DB00583)						236.0	222.0	227.0					9																	131864769		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864769G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.540C>T	9.37:g.131864769G>A						CRAT_ENST00000464290.1_5'UTR	p.C180C	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	834	-			180					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.540C>T	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			8	194	0	0	0	1	0	8	194				
EIF5A	1984	broad.mit.edu	37	17	7214356	7214356	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7214356A>T	ENST00000336458.8	+	3	586	c.185A>T	c.(184-186)gAc>gTc	p.D62V	EIF5A_ENST00000419711.2_Missense_Mutation_p.D62V|EIF5A_ENST00000336452.7_Missense_Mutation_p.D92V|EIF5A_ENST00000576930.1_Missense_Mutation_p.D62V|EIF5A_ENST00000571955.1_Missense_Mutation_p.D62V|EIF5A_ENST00000572815.1_Missense_Mutation_p.D62V|EIF5A_ENST00000573542.1_Missense_Mutation_p.D62V|EIF5A_ENST00000416016.2_Missense_Mutation_p.D62V	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	62	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GTTGGTATTGACATCTTTACT	0.408																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(184-186)gAc>gTc		eukaryotic translation initiation factor 5A							110.0	92.0	98.0					17																	7214356		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214356A>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.185A>T	17.37:g.7214356A>T	ENSP00000336776:p.Asp62Val					EIF5A_ENST00000576930.1_Missense_Mutation_p.D62V|EIF5A_ENST00000571955.1_Missense_Mutation_p.D62V|EIF5A_ENST00000419711.2_Missense_Mutation_p.D62V|EIF5A_ENST00000416016.2_Missense_Mutation_p.D62V|EIF5A_ENST00000336452.7_Missense_Mutation_p.D92V|EIF5A_ENST00000573542.1_Missense_Mutation_p.D62V|EIF5A_ENST00000572815.1_Missense_Mutation_p.D62V	p.D62V	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	586	+			62			DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.185A>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026338	0.75390	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.067867	0.56097	D	0.000023	T	0.81113	0.4755	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.986;0.996	D	0.87321	0.2318	10	0.87932	D	0	-26.9933	12.9051	0.58147	1.0:0.0:0.0:0.0	.	62;92	P63241;P63241-2	IF5A1_HUMAN;.	V	92;62;62;62	ENSP00000336702:D92V;ENSP00000336776:D62V;ENSP00000390677:D62V;ENSP00000396073:D62V	ENSP00000336702:D92V	D	+	2	0	EIF5A	7155080	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.387000	0.90167	1.962000	0.57031	0.459000	0.35465	GAC		0.408	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		44	60	0	0	0	1	0	44	60				
MYH7	4625	broad.mit.edu	37	14	23894603	23894603	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23894603C>A	ENST00000355349.3	-	21	2473	c.2311G>T	c.(2311-2313)Ggg>Tgg	p.G771W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	771	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCAGCCCCAGCAGCCCG	0.582																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2311-2313)Ggg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							57.0	54.0	55.0					14																	23894603		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894603C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2311G>T	14.37:g.23894603C>A	ENSP00000347507:p.Gly771Trp						p.G771W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	21	2473	-	all_cancers(95;2.54e-05)		771			Actin-binding.|Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2311G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715621	0.89112	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95238	-3.65	4.6	4.6	0.57074	Myosin head, motor domain (1);	.	.	.	.	D	0.98295	0.9435	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99593	1.0976	9	0.87932	D	0	.	17.9586	0.89078	0.0:1.0:0.0:0.0	.	771	P12883	MYH7_HUMAN	W	771	ENSP00000347507:G771W	ENSP00000347507:G771W	G	-	1	0	MYH7	22964443	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.210000	0.77924	2.543000	0.85770	0.563000	0.77884	GGG		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	24	1	0	1.76689e-08	1	1.86465e-08	8	24				
STXBP6	29091	broad.mit.edu	37	14	25288249	25288249	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:25288249C>T	ENST00000323944.5	-	5	1054	c.603G>A	c.(601-603)gcG>gcA	p.A201A	STXBP6_ENST00000396700.1_Silent_p.A201A|STXBP6_ENST00000550887.1_Silent_p.A201A|STXBP6_ENST00000548724.1_Silent_p.A201A|STXBP6_ENST00000546511.1_Silent_p.A201A|STXBP6_ENST00000548369.1_Silent_p.A99A|STXBP6_ENST00000358326.2_Silent_p.A201A|STXBP6_ENST00000419632.2_Silent_p.A201A			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	201	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CCACCTTGTGCGCAGTTTCTG	0.532																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(601-603)gcG>gcA		syntaxin binding protein 6 (amisyn)							115.0	106.0	109.0					14																	25288249		2203	4300	6503	SO:0001819	synonymous_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288249C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.603G>A	14.37:g.25288249C>T						STXBP6_ENST00000550887.1_Silent_p.A201A|STXBP6_ENST00000358326.2_Silent_p.A201A|STXBP6_ENST00000419632.2_Silent_p.A201A|STXBP6_ENST00000546511.1_Silent_p.A201A|STXBP6_ENST00000548369.1_Silent_p.A99A|STXBP6_ENST00000548724.1_Silent_p.A201A|STXBP6_ENST00000396700.1_Silent_p.A201A	p.A201A			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	5	1054	-			201			v-SNARE coiled-coil homology.		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Silent	SNP	ENST00000323944.5	37	c.603G>A	CCDS9634.1																																																																																				0.532	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			23	45	0	0	0	1	0	23	45				
SGK1	6446	broad.mit.edu	37	6	134492174	134492174	+	Missense_Mutation	SNP	G	G	A	rs55932330		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:134492174G>A	ENST00000237305.7	-	10	1113	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Missense_Mutation_p.A298V|SGK1_ENST00000528577.1_Missense_Mutation_p.A370V|SGK1_ENST00000367857.5_Missense_Mutation_p.A332V|SGK1_ENST00000413996.3_Missense_Mutation_p.A356V|SGK1_ENST00000367858.5_Missense_Mutation_p.A437V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in dbSNP:rs55932330). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GTCATCCTTGGCCCCGAGCCG	0.527																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1309-1311)gCc>gTc		serum/glucocorticoid regulated kinase 1							76.0	74.0	75.0					6																	134492174		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134492174G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1025C>T	6.37:g.134492174G>A	ENSP00000237305:p.Ala342Val					SGK1_ENST00000475719.2_Missense_Mutation_p.A298V|SGK1_ENST00000413996.3_Missense_Mutation_p.A356V|SGK1_ENST00000528577.1_Missense_Mutation_p.A370V|SGK1_ENST00000367857.5_Missense_Mutation_p.A332V|SGK1_ENST00000237305.7_Missense_Mutation_p.A342V	p.A437V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	12	1907	-	Colorectal(23;0.221)		342					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.1310C>T	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843827	0.32606	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.190789	0.56097	D	0.000025	T	0.31765	0.0807	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.23490	0.048;0.023;0.028;0.028;0.086;0.07	B;B;B;B;B;B	0.21546	0.024;0.014;0.035;0.015;0.035;0.025	T	0.09930	-1.0652	10	0.59425	D	0.04	.	20.3052	0.98627	0.0:0.0:1.0:0.0	rs55932330	370;356;298;332;437;342	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	437;356;342;332;370;298	ENSP00000356832:A437V;ENSP00000396242:A356V;ENSP00000237305:A342V;ENSP00000356831:A332V;ENSP00000434450:A370V;ENSP00000434302:A298V	ENSP00000237305:A342V	A	-	2	0	SGK1	134533867	1.000000	0.71417	0.997000	0.53966	0.475000	0.33008	5.682000	0.68182	2.808000	0.96608	0.655000	0.94253	GCC		0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			20	22	0	0	0	1	0	20	22				
MYOM2	9172	broad.mit.edu	37	8	2048706	2048706	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:2048706G>A	ENST00000262113.4	+	20	2622	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	MYOM2_ENST00000523438.1_Silent_p.T252T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	827	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCAGGGACACGTCCTTGGTCA	0.582																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2479-2481)acG>acA		myomesin 2							118.0	91.0	100.0					8																	2048706		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2048706G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2481G>A	8.37:g.2048706G>A						MYOM2_ENST00000523438.1_Silent_p.T252T	p.T827T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	20	2622	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	827			Fibronectin type-III 5.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2481G>A	CCDS5957.1																																																																																				0.582	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		11	17	0	0	0	1	0	11	17				
SLC36A2	153201	broad.mit.edu	37	5	150723083	150723083	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:150723083C>T	ENST00000335244.4	-	3	461	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SLC36A2_ENST00000521967.1_Missense_Mutation_p.R111H	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	111					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTTACAGAAGCGCTGGGCACA	0.517																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(331-333)cGc>cAc		solute carrier family 36 (proton/amino acid symporter), member 2							112.0	111.0	111.0					5																	150723083		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723083C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.332G>A	5.37:g.150723083C>T	ENSP00000334223:p.Arg111His					SLC36A2_ENST00000521967.1_Missense_Mutation_p.R111H	p.R111H	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	461	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	111					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.332G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	1.147	-0.647843	0.03506	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02177	4.41;4.41	4.6	-1.86	0.07760	.	0.293913	0.38897	N	0.001529	T	0.00875	0.0029	N	0.01640	-0.785	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.14023	0.01;0.002;0.002	T	0.55328	-0.8158	10	0.12103	T	0.63	-7.8215	11.2297	0.48905	0.0:0.2036:0.0:0.7964	.	111;111;111	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	H	111	ENSP00000334223:R111H;ENSP00000430535:R111H	ENSP00000334223:R111H	R	-	2	0	SLC36A2	150703276	1.000000	0.71417	0.824000	0.32777	0.578000	0.36192	1.291000	0.33330	-0.320000	0.08640	0.591000	0.81541	CGC		0.517	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			13	30	0	0	0	1	0	13	30				
GLE1	2733	broad.mit.edu	37	9	131267153	131267153	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131267153C>T	ENST00000309971.4	+	1	175	c.69C>T	c.(67-69)tgC>tgT	p.C23C	GLE1_ENST00000372770.4_Silent_p.C23C|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	23	Interaction with NUP155.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GTCGCCTTTGCTACTACCGCG	0.657																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(67-69)tgC>tgT		GLE1 RNA export mediator							60.0	56.0	57.0					9																	131267153		2203	4300	6503	SO:0001819	synonymous_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131267153C>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.69C>T	9.37:g.131267153C>T						GLE1_ENST00000372770.4_Silent_p.C23C|GLE1_ENST00000539582.1_5'UTR	p.C23C	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			1	175	+			23			Interaction with NUP155.		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	ENST00000309971.4	37	c.69C>T	CCDS35154.1																																																																																				0.657	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		20	33	0	0	0	1	0	20	33				
COL24A1	255631	broad.mit.edu	37	1	86512508	86512508	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86512508C>A	ENST00000370571.2	-	12	2316	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H	COL24A1_ENST00000436319.1_Splice_Site_p.Q650H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	650					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAAGATACCTGTCTCCCCT	0.313																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e12+1		collagen, type XXIV, alpha 1							133.0	133.0	133.0					1																	86512508		1804	4067	5871	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86512508C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1950+1G>T	1.37:g.86512508C>A						COL24A1_ENST00000436319.1_Splice_Site_p.Q650_splice	p.Q650_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	12	2316	-			650					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37	c.1950_splice	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126723	0.20959	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93712	-3.27;-3.27	4.22	4.22	0.49857	.	0.000000	0.35870	N	0.002931	D	0.86851	0.6032	L	0.51422	1.61	0.39392	D	0.966443	B;B	0.33841	0.428;0.044	B;B	0.35899	0.213;0.065	D	0.85335	0.1092	9	.	.	.	.	12.3912	0.55360	0.0:1.0:0.0:0.0	.	650;650	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	650	ENSP00000359603:Q650H;ENSP00000392531:Q650H	.	Q	-	3	2	COL24A1	86285096	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.018000	0.49625	2.616000	0.88540	0.655000	0.94253	CAG		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Missense_Mutation	9	65	1	0	9.70103e-10	1	1.03282e-09	9	65				
OPN1SW	611	broad.mit.edu	37	7	128412651	128412651	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128412651G>C	ENST00000249389.2	-	5	989	c.990C>G	c.(988-990)tgC>tgG	p.C330W		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	330					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCTGGGAGCTGCATGTGTCGG	0.458																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(988-990)tgC>tgG		opsin 1 (cone pigments), short-wave-sensitive							207.0	179.0	188.0					7																	128412651		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128412651G>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.990C>G	7.37:g.128412651G>C	ENSP00000249389:p.Cys330Trp						p.C330W	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			5	989	-			330					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.990C>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914544	0.17907	.	.	ENSG00000128617	ENST00000249389	T	0.36878	1.23	5.7	3.36	0.38483	.	1.225170	0.05573	N	0.571450	T	0.23249	0.0562	N	0.08118	0	0.35771	D	0.82089	B	0.12630	0.006	B	0.06405	0.002	T	0.08806	-1.0704	10	0.87932	D	0	.	8.7346	0.34521	0.236:0.0:0.764:0.0	.	330	P03999	OPSB_HUMAN	W	330	ENSP00000249389:C330W	ENSP00000249389:C330W	C	-	3	2	OPN1SW	128199887	1.000000	0.71417	0.797000	0.32132	0.171000	0.22731	3.122000	0.50446	0.427000	0.26145	0.650000	0.86243	TGC		0.458	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		5	50	0	0	0	1	0	5	50				
IL23R	149233	broad.mit.edu	37	1	67633805	67633805	+	Start_Codon_SNP	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67633805T>C	ENST00000347310.5	+	2	173	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IL23R_ENST00000371002.1_Start_Codon_SNP_p.M1T|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	1					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTTCCAGACATGAATCAGGTC	0.318																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1-3)aTg>aCg		interleukin 23 receptor							201.0	170.0	181.0					1																	67633805		2203	4300	6503	SO:0001582	initiator_codon_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67633805T>C	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.2T>C	1.37:g.67633805T>C	ENSP00000321345:p.Met1Thr					C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Start_Codon_SNP_p.M1T	p.M1T	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			2	173	+			1					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Translation_Start_Site	SNP	ENST00000347310.5	37	c.2T>C	CCDS637.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833173	0.32421	.	.	ENSG00000162594	ENST00000347310;ENST00000371002	D;D	0.84730	-1.89;-1.89	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90229	0.6945	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91805	0.5455	9	0.87932	D	0	-9.9483	11.8339	0.52312	0.0:0.0:0.0:1.0	.	1	Q5VWK5	IL23R_HUMAN	T	1	ENSP00000321345:M1T;ENSP00000360041:M1T	ENSP00000321345:M1T	M	+	2	0	IL23R	67406393	1.000000	0.71417	0.974000	0.42286	0.005000	0.04900	2.433000	0.44793	2.047000	0.60756	0.482000	0.46254	ATG		0.318	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Missense_Mutation	4	80	0	0	0	1	0	4	80				
PDZD9	255762	broad.mit.edu	37	16	21995749	21995749	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21995749C>T	ENST00000424898.2	-	4	696	c.634G>A	c.(634-636)Gac>Aac	p.D212N	PDZD9_ENST00000537222.2_Missense_Mutation_p.D152N|PDZD9_ENST00000286143.6_Missense_Mutation_p.D150N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	212										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TCTTTCTTGTCGTCTCTGTGA	0.423																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(448-450)Gac>Aac		PDZ domain containing 9							239.0	219.0	226.0					16																	21995749		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995749C>T	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.634G>A	16.37:g.21995749C>T	ENSP00000400514:p.Asp212Asn					PDZD9_ENST00000424898.2_Missense_Mutation_p.D212N|PDZD9_ENST00000537222.2_Missense_Mutation_p.D152N	p.D150N			Q8IXQ8	PDZD9_HUMAN			5	769	-			212					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.448G>A		.	.	.	.	.	.	.	.	.	.	C	2.935	-0.220250	0.06061	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.44881	0.91	5.21	-1.79	0.07932	.	1.543180	0.03636	N	0.238678	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.08046	-1.0741	10	0.17832	T	0.49	0.0426	1.37	0.02209	0.2405:0.2968:0.3254:0.1373	.	150	Q8IXQ8-2	.	N	212;152;150	ENSP00000400514:D212N	ENSP00000286143:D150N	D	-	1	0	PDZD9	21903250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-0.059000	0.13154	-1.177000	0.01723	GAC		0.423	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		49	67	0	0	0	1	0	49	67				
SETD5	55209	broad.mit.edu	37	3	9476069	9476069	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9476069C>T	ENST00000406341.1	+	4	419	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R77C|SETD5_ENST00000407969.1_Missense_Mutation_p.R96C|SETD5_ENST00000402466.1_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	77			R -> H (in dbSNP:rs41387348).							NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTAGAGGAACGCTGTGGAGA	0.567																																						ENST00000402198.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(229-231)Cgc>Tgc		SET domain containing 5							100.0	108.0	105.0					3																	9476069		1997	4159	6156	SO:0001583	missense	55209							g.chr3:9476069C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.229C>T	3.37:g.9476069C>T	ENSP00000383939:p.Arg77Cys					SETD5_ENST00000406341.1_Missense_Mutation_p.R77C|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R96C|SETD5_ENST00000402466.1_5'UTR	p.R77C	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	5	664	+	Medulloblastoma(99;0.227)		77		R -> H (in dbSNP:rs41387348).			Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.229C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523158	0.44866	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.91068	1.44;-2.78;-2.78;-2.67	5.69	4.75	0.60458	.	.	.	.	.	D	0.85431	0.5695	N	0.22421	0.69	0.80722	D	1	D;D	0.60575	0.988;0.981	B;P	0.46339	0.353;0.513	D	0.86309	0.1685	9	0.66056	D	0.02	-1.9683	11.1594	0.48507	0.3842:0.6158:0.0:0.0	.	77;96	Q9C0A6;E7EWN3	SETD5_HUMAN;.	C	77;77;77;96	ENSP00000413786:R77C;ENSP00000385852:R77C;ENSP00000383939:R77C;ENSP00000384114:R96C	ENSP00000385852:R77C	R	+	1	0	SETD5	9451069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.991000	0.56973	2.679000	0.91253	0.591000	0.81541	CGC		0.567	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		10	24	0	0	0	1	0	10	24				
PTPRO	5800	broad.mit.edu	37	12	15669723	15669723	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:15669723C>A	ENST00000281171.4	+	9	1942	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	PTPRO_ENST00000543886.1_Missense_Mutation_p.L538I|PTPRO_ENST00000348962.2_Missense_Mutation_p.L538I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	538	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGATTTAATGCTCTATCCTTT	0.433																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1612-1614)Ctc>Atc		protein tyrosine phosphatase, receptor type, O							129.0	121.0	124.0					12																	15669723		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669723C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1612C>A	12.37:g.15669723C>A	ENSP00000281171:p.Leu538Ile					PTPRO_ENST00000348962.2_Missense_Mutation_p.L538I|PTPRO_ENST00000543886.1_Missense_Mutation_p.L538I	p.L538I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			9	1942	+		Hepatocellular(102;0.244)	538			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1612C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708050	0.68615	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.54279	0.58;0.58;0.58	5.03	5.03	0.67393	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000339	T	0.44953	0.1318	N	0.24115	0.695	0.80722	D	1	P;P;P	0.47350	0.879;0.807;0.894	B;B;B	0.43950	0.36;0.197;0.437	T	0.35748	-0.9776	10	0.32370	T	0.25	.	18.6083	0.91275	0.0:1.0:0.0:0.0	.	538;538;538	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	538	ENSP00000281171:L538I;ENSP00000444173:L538I;ENSP00000343434:L538I	ENSP00000281171:L538I	L	+	1	0	PTPRO	15560990	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.434000	0.59935	2.613000	0.88420	0.632000	0.83419	CTC		0.433	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			35	43	1	0	6.90743e-12	1	7.45315e-12	35	43				
SHBG	6462	broad.mit.edu	37	17	7535020	7535020	+	Silent	SNP	C	C	A	rs548248396	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7535020C>A	ENST00000380450.4	+	5	700	c.669C>A	c.(667-669)ccC>ccA	p.P223P	SHBG_ENST00000576478.1_Silent_p.P111P|SHBG_ENST00000441599.2_Silent_p.P223P|SHBG_ENST00000416273.3_Silent_p.P223P|SHBG_ENST00000570547.1_Silent_p.P165P|SHBG_ENST00000572262.1_Silent_p.P111P|SHBG_ENST00000574539.1_Silent_p.P165P|SHBG_ENST00000575314.1_Silent_p.P165P|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_Silent_p.P165P|SHBG_ENST00000576728.1_Silent_p.P111P|SHBG_ENST00000575903.1_Silent_p.P205P	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	223					primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	AATCAAATCCCGGGATATTTC	0.557																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(667-669)ccC>ccA		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						141.0	160.0	153.0					17																	7535020		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535020C>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.669C>A	17.37:g.7535020C>A						SHBG_ENST00000340624.5_Silent_p.P165P|SHBG_ENST00000575314.1_Silent_p.P165P|SHBG_ENST00000416273.3_Silent_p.P223P|SHBG_ENST00000570547.1_Silent_p.P165P|SHBG_ENST00000576478.1_Silent_p.P111P|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Silent_p.P165P|SHBG_ENST00000572262.1_Silent_p.P111P|SHBG_ENST00000441599.2_Silent_p.P223P|SHBG_ENST00000575903.1_Silent_p.P205P|SHBG_ENST00000576728.1_Silent_p.P111P	p.P223P	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	5	700	+		all_cancers(10;0.0867)	223					B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.669C>A	CCDS11117.1																																																																																				0.557	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		84	124	1	0	3.1376e-36	1	3.52241e-36	84	124				
RELA	5970	broad.mit.edu	37	11	65426220	65426220	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65426220C>A	ENST00000406246.3	-	7	894	c.633G>T	c.(631-633)gaG>gaT	p.E211D	RELA_ENST00000308639.9_Missense_Mutation_p.E208D|RELA_ENST00000525693.1_Missense_Mutation_p.E211D	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	211	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTAGGAAGATCTCATCCCCAC	0.567																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(631-633)gaG>gaT		v-rel avian reticuloendotheliosis viral oncogene homolog A							141.0	121.0	127.0					11																	65426220		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65426220C>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.633G>T	11.37:g.65426220C>A	ENSP00000384273:p.Glu211Asp					RELA_ENST00000406246.3_Missense_Mutation_p.E211D|RELA_ENST00000308639.9_Missense_Mutation_p.E208D	p.E211D			Q04206	TF65_HUMAN			7	695	-			211			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.633G>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239810	0.79912	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.13	5.13	0.70059	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.80422	2.495	0.48087	D	0.999585	P;D;D;D;D;P	0.71674	0.627;0.978;0.978;0.963;0.998;0.685	B;D;D;P;D;B	0.81914	0.399;0.934;0.934;0.86;0.995;0.354	T	0.71998	-0.4423	10	0.87932	D	0	-21.9559	16.0771	0.80976	0.0:1.0:0.0:0.0	.	211;198;208;211;222;211	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	D	211;211;208;211;222;222;202;180	ENSP00000384273:E211D;ENSP00000432537:E211D;ENSP00000311508:E208D;ENSP00000433526:E222D;ENSP00000434372:E202D;ENSP00000436545:E180D	ENSP00000311508:E208D	E	-	3	2	RELA	65182796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.902000	0.39848	2.387000	0.81309	0.655000	0.94253	GAG		0.567	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	73	1	0	0.0477658	1	0.0480142	7	73				
HSP90B1	7184	broad.mit.edu	37	12	104336443	104336443	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104336443C>T	ENST00000299767.5	+	12	1695	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	505					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GAATCGAACACGTCTTGCTAA	0.373																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1513-1515)Cgt>Tgt		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						119.0	116.0	117.0					12																	104336443		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336443C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1513C>T	12.37:g.104336443C>T	ENSP00000299767:p.Arg505Cys						p.R505C	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			12	1695	+			505					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1513C>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369627	0.95900	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11495	2.77	6.16	6.16	0.99307	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.92507	3.315	0.80722	D	1	D	0.58268	0.982	P	0.51657	0.676	T	0.46331	-0.9199	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	505	P14625	ENPL_HUMAN	C	505;255	ENSP00000299767:R505C	ENSP00000299767:R505C	R	+	1	0	HSP90B1	102860573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.937000	0.99478	0.650000	0.86243	CGT		0.373	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		12	65	0	0	0	1	0	12	65				
VRTN	55237	broad.mit.edu	37	14	74825075	74825075	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:74825075G>A	ENST00000256362.4	+	2	1830	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	530					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCGCTTCCGCCTCCGCTAC	0.652																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1588-1590)cGc>cAc		vertebrae development associated							70.0	72.0	71.0					14																	74825075		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825075G>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1589G>A	14.37:g.74825075G>A	ENSP00000256362:p.Arg530His						p.R530H	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1830	+			530					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1589G>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905678	0.72868	.	.	ENSG00000133980	ENST00000256362	T	0.52295	0.67	4.29	4.29	0.51040	.	0.165435	0.39687	U	0.001294	T	0.46014	0.1371	L	0.29908	0.895	0.34687	D	0.725303	D	0.76494	0.999	P	0.50490	0.642	T	0.62714	-0.6796	10	0.66056	D	0.02	-6.8816	15.095	0.72226	0.0:0.0:1.0:0.0	.	530	Q9H8Y1	VRTN_HUMAN	H	530	ENSP00000256362:R530H	ENSP00000256362:R530H	R	+	2	0	VRTN	73894828	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.546000	0.67243	2.211000	0.71520	0.491000	0.48974	CGC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		62	84	0	0	0	1	0	62	84				
POC5	134359	broad.mit.edu	37	5	74981187	74981187	+	Missense_Mutation	SNP	G	G	A	rs138072982	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:74981187G>A	ENST00000428202.2	-	10	1441	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	POC5_ENST00000380475.2_Missense_Mutation_p.P301S|POC5_ENST00000514838.2_Missense_Mutation_p.P390S|POC5_ENST00000510798.1_Missense_Mutation_p.P301S|POC5_ENST00000446329.2_Missense_Mutation_p.P393S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	418					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTGGGGATGGCAGCAGTGGT	0.552																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1252-1254)Cca>Tca		POC5 centriolar protein							109.0	128.0	122.0					5																	74981187		2062	4211	6273	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74981187G>A	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1252C>T	5.37:g.74981187G>A	ENSP00000410216:p.Pro418Ser					POC5_ENST00000380475.2_Missense_Mutation_p.P301S|POC5_ENST00000514838.2_Missense_Mutation_p.P390S|POC5_ENST00000510798.1_Missense_Mutation_p.P301S|POC5_ENST00000446329.2_Missense_Mutation_p.P393S	p.P418S	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN			10	1441	-			418					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1252C>T	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591496	0.13812	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.43294	1.88;1.49;0.95;0.95;1.87	4.36	2.56	0.30785	.	1.301750	0.04493	N	0.379868	T	0.60090	0.2242	M	0.74881	2.28	0.09310	N	1	B;D;D	0.67145	0.009;0.996;0.99	B;D;P	0.75484	0.005;0.986;0.842	T	0.44544	-0.9321	10	0.11182	T	0.66	-3.7796	6.2012	0.20577	0.1006:0.1877:0.7117:0.0	.	301;418;393	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	S	418;390;301;301;393	ENSP00000410216:P418S;ENSP00000420971:P390S;ENSP00000369842:P301S;ENSP00000426796:P301S;ENSP00000399481:P393S	ENSP00000369842:P301S	P	-	1	0	POC5	75016943	0.002000	0.14202	0.001000	0.08648	0.108000	0.19459	0.063000	0.14410	0.760000	0.33108	-0.291000	0.09656	CCA		0.552	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		19	36	0	0	0	1	0	19	36				
YTHDC2	64848	broad.mit.edu	37	5	112915367	112915367	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:112915367G>T	ENST00000161863.4	+	24	3542	c.3329G>T	c.(3328-3330)tGg>tTg	p.W1110L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1110					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTTGATGAGTGGCTCCATTTC	0.363																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3328-3330)tGg>tTg		YTH domain containing 2							141.0	141.0	141.0					5																	112915367		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112915367G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3329G>T	5.37:g.112915367G>T	ENSP00000161863:p.Trp1110Leu						p.W1110L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	24	3542	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1110					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3329G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990533	0.74589	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02737	4.18	5.82	5.82	0.92795	.	0.066763	0.64402	D	0.000004	T	0.06508	0.0167	L	0.59436	1.845	0.80722	D	1	B	0.22683	0.073	B	0.23852	0.049	T	0.19647	-1.0299	10	0.87932	D	0	.	20.0789	0.97764	0.0:0.0:1.0:0.0	.	1110	Q9H6S0	YTDC2_HUMAN	L	1110;1020	ENSP00000161863:W1110L	ENSP00000161863:W1110L	W	+	2	0	YTHDC2	112943266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.126000	0.77201	2.750000	0.94351	0.655000	0.94253	TGG		0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		22	45	1	0	8.04996e-18	1	8.87193e-18	22	45				
ABHD2	11057	broad.mit.edu	37	15	89734361	89734361	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89734361G>A	ENST00000352732.5	+	9	1497	c.977G>A	c.(976-978)tGc>tAc	p.C326Y	ABHD2_ENST00000355100.3_Missense_Mutation_p.C326Y|ABHD2_ENST00000565973.1_Missense_Mutation_p.C326Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	326					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAGAAAGTTGCATGCGGTAC	0.463																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(976-978)tGc>tAc		abhydrolase domain containing 2							106.0	92.0	97.0					15																	89734361		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89734361G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.977G>A	15.37:g.89734361G>A	ENSP00000268129:p.Cys326Tyr					ABHD2_ENST00000565973.1_Missense_Mutation_p.C326Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.C326Y	p.C326Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			9	1497	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		326					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.977G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689837	0.88735	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.61392	0.11;0.11	5.51	5.51	0.81932	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.77088	-0.2717	10	0.66056	D	0.02	-4.8713	19.4277	0.94751	0.0:0.0:1.0:0.0	.	326	P08910	ABHD2_HUMAN	Y	326	ENSP00000268129:C326Y;ENSP00000347217:C326Y	ENSP00000268129:C326Y	C	+	2	0	ABHD2	87535365	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.369000	0.97156	2.568000	0.86640	0.655000	0.94253	TGC		0.463	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			41	58	0	0	0	1	0	41	58				
PASD1	139135	broad.mit.edu	37	X	150842563	150842563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:150842563C>T	ENST00000370357.4	+	15	2325	c.2080C>T	c.(2080-2082)Caa>Taa	p.Q694*		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	694						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCTTTGGCAAGAGTTGTC	0.517																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2080-2082)Caa>Taa		PAS domain containing 1							125.0	116.0	119.0					X																	150842563		2203	4300	6503	SO:0001587	stop_gained	139135					nucleus	signal transducer activity	g.chrX:150842563C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2080C>T	X.37:g.150842563C>T	ENSP00000359382:p.Gln694*						p.Q694*	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			15	2325	+	Acute lymphoblastic leukemia(192;6.56e-05)		694					Q3MNE0|Q69HD7|Q8N7X9	Nonsense_Mutation	SNP	ENST00000370357.4	37	c.2080C>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804613	0.90623	.	.	ENSG00000166049	ENST00000370357	.	.	.	3.37	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.0393	5.2975	0.15760	0.2361:0.5388:0.2251:0.0	.	.	.	.	X	694	.	ENSP00000359382:Q694X	Q	+	1	0	PASD1	150593219	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.535000	0.06142	0.274000	0.22072	-1.045000	0.02358	CAA		0.517	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		30	9	0	0	0	1	0	30	9				
HIF3A	64344	broad.mit.edu	37	19	46807241	46807241	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46807241C>A	ENST00000377670.4	+	2	144	c.113C>A	c.(112-114)gCt>gAt	p.A38D	HIF3A_ENST00000339613.2_5'UTR|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.A36D|HIF3A_ENST00000244303.6_Missense_Mutation_p.L18I|HIF3A_ENST00000472815.1_Missense_Mutation_p.L18I|HIF3A_ENST00000420102.2_Missense_Mutation_p.L36I|HIF3A_ENST00000600383.1_Missense_Mutation_p.L18I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TACCAGCTGGCTCACACGCTG	0.692																																						ENST00000377670.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(112-114)gCt>gAt		hypoxia inducible factor 3, alpha subunit							12.0	14.0	13.0					19																	46807241		2188	4290	6478	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807241C>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.113C>A	19.37:g.46807241C>A	ENSP00000366898:p.Ala38Asp					HIF3A_ENST00000420102.2_Missense_Mutation_p.L36I|HIF3A_ENST00000600383.1_Missense_Mutation_p.L18I|HIF3A_ENST00000472815.1_Missense_Mutation_p.L18I|HIF3A_ENST00000244303.6_Missense_Mutation_p.L18I|HIF3A_ENST00000300862.3_Missense_Mutation_p.A36D|HIF3A_ENST00000339613.2_5'UTR	p.A38D	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	144	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	38			Helix-loop-helix motif.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.113C>A	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.493593|5.493593	0.96339|0.96339	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000472815;ENST00000300862|ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	T;T|T;T	0.60171|0.70516	0.21;0.21|-0.22;-0.49	4.82|4.82	4.82|4.82	0.62117|0.62117	Helix-loop-helix DNA-binding (3);|.	0.186704|.	0.26338|.	N|.	0.024944|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D;D;D|B;B;B	0.89917|0.23540	1.0;1.0;0.997;0.999|0.087;0.052;0.052	D;D;P;D|B;B;B	0.79108|0.27796	0.992;0.982;0.879;0.986|0.083;0.038;0.038	T|T	0.78770|0.78770	-0.2074|-0.2074	10|9	0.87932|0.87932	D|D	0|0	.|.	15.8032|15.8032	0.78471|0.78471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;38;38;38|36;18;36	Q9Y2N7-2;Q9Y2N7;B0M185;E7EWV6|F5H884;B4DNA2;B4DSD9	.;HIF3A_HUMAN;.;.|.;.;.	D|I	38;38;38;38;59;36|18;18;18;18;36	ENSP00000366898:A38D;ENSP00000300862:A36D|ENSP00000244303:L18I;ENSP00000407771:L36I	ENSP00000244302:A38D|ENSP00000244303:L18I	A|L	+|+	2|1	0|0	HIF3A|HIF3A	51499081|51499081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.520000|7.520000	0.81821|0.81821	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GCT|CTC		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			3	3	1	0	0.00024832	1	0.000253518	3	3				
DPP8	54878	broad.mit.edu	37	15	65759487	65759487	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65759487G>A	ENST00000341861.5	-	13	3239	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	DPP8_ENST00000321147.6_Silent_p.Y553Y|DPP8_ENST00000358939.4_Silent_p.Y537Y|DPP8_ENST00000300141.6_Silent_p.Y537Y|DPP8_ENST00000321118.7_Silent_p.Y553Y|DPP8_ENST00000559233.1_Silent_p.Y553Y|DPP8_ENST00000339244.5_Silent_p.Y380Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	553					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AACTGACTACGTACAGGTGAT	0.418																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1657-1659)taC>taT		dipeptidyl-peptidase 8							122.0	112.0	115.0					15																	65759487		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65759487G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1659C>T	15.37:g.65759487G>A						DPP8_ENST00000559233.1_Silent_p.Y553Y|DPP8_ENST00000339244.5_Silent_p.Y380Y|DPP8_ENST00000358939.4_Silent_p.Y537Y|DPP8_ENST00000321147.6_Silent_p.Y553Y|DPP8_ENST00000321118.7_Silent_p.Y553Y|DPP8_ENST00000300141.6_Silent_p.Y537Y	p.Y553Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			13	3239	-			553					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.1659C>T	CCDS10207.1																																																																																				0.418	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		8	57	0	0	0	1	0	8	57				
HDX	139324	broad.mit.edu	37	X	83724079	83724079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:83724079G>A	ENST00000297977.5	-	3	763	c.652C>T	c.(652-654)Cga>Tga	p.R218*	HDX_ENST00000373177.2_Nonsense_Mutation_p.R218*|HDX_ENST00000506585.2_Nonsense_Mutation_p.R160*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	218						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAAGGTCGGTGGCACACA	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(652-654)Cga>Tga		highly divergent homeobox							148.0	130.0	136.0					X																	83724079		2203	4300	6503	SO:0001587	stop_gained	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724079G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.652C>T	X.37:g.83724079G>A	ENSP00000297977:p.Arg218*					HDX_ENST00000506585.2_Nonsense_Mutation_p.R160*|HDX_ENST00000373177.2_Nonsense_Mutation_p.R218*	p.R218*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	763	-			218					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Nonsense_Mutation	SNP	ENST00000297977.5	37	c.652C>T	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729722	0.89390	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	.	.	.	4.92	2.0	0.26442	.	0.141151	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0582	12.6813	0.56924	0.0:0.0:0.319:0.681	.	.	.	.	X	218;160;218;160	.	ENSP00000297977:R218X	R	-	1	2	HDX	83610735	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	0.920000	0.28705	0.152000	0.19188	0.513000	0.50165	CGA		0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		61	17	0	0	0	1	0	61	17				
COL4A2	1284	broad.mit.edu	37	13	111080821	111080821	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:111080821C>T	ENST00000360467.5	+	7	674	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	123					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGACACCCGGGGCAAGGT	0.582																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(367-369)cCg>cTg		collagen, type IV, alpha 2							40.0	47.0	45.0					13																	111080821		1903	4109	6012	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111080821C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.368C>T	13.37:g.111080821C>T	ENSP00000353654:p.Pro123Leu						p.P123L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		7	674	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	123					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.368C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426704	0.43020	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96685	-4.09	4.99	4.99	0.66335	.	0.000000	0.50627	D	0.000113	D	0.98289	0.9433	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99004	1.0812	10	0.56958	D	0.05	.	18.3092	0.90193	0.0:1.0:0.0:0.0	.	123	P08572	CO4A2_HUMAN	L	123	ENSP00000353654:P123L	ENSP00000257309:P123L	P	+	2	0	COL4A2	109878822	1.000000	0.71417	0.731000	0.30826	0.146000	0.21551	5.837000	0.69381	2.304000	0.77564	0.655000	0.94253	CCG		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		13	34	0	0	0	1	0	13	34				
MPP7	143098	broad.mit.edu	37	10	28358764	28358764	+	Silent	SNP	G	G	A	rs556715750		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28358764G>A	ENST00000375732.1	-	13	1400	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	MPP7_ENST00000337532.5_Silent_p.L381L|MPP7_ENST00000540098.1_Silent_p.L381L|MPP7_ENST00000445954.2_Silent_p.L256L|MPP7_ENST00000375719.3_Silent_p.L381L			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	381	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGTTCATTCAGCCCTACTCCC	0.463																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1141-1143)Ctg>Ttg		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							121.0	86.0	98.0					10																	28358764		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28358764G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1141C>T	10.37:g.28358764G>A						MPP7_ENST00000540098.1_Silent_p.L381L|MPP7_ENST00000375719.3_Silent_p.L381L|MPP7_ENST00000375732.1_Silent_p.L381L|MPP7_ENST00000445954.2_Silent_p.L256L	p.L381L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			14	1417	-			381			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1141C>T	CCDS7158.1																																																																																				0.463	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		10	28	0	0	0	1	0	10	28				
TACC2	10579	broad.mit.edu	37	10	124008246	124008246	+	Silent	SNP	C	C	T	rs201589274		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124008246C>T	ENST00000369005.1	+	20	8821	c.8481C>T	c.(8479-8481)tcC>tcT	p.S2827S	TACC2_ENST00000369004.3_Silent_p.S887S|TACC2_ENST00000334433.3_Silent_p.S2827S|TACC2_ENST00000513429.1_Silent_p.S973S|TACC2_ENST00000453444.2_Silent_p.S2754S|TACC2_ENST00000358010.1_Silent_p.S973S|TACC2_ENST00000369000.1_Silent_p.S450S|TACC2_ENST00000515273.1_Silent_p.S2754S|TACC2_ENST00000360561.3_Silent_p.S875S|TACC2_ENST00000369001.1_Silent_p.S454S|TACC2_ENST00000368999.1_Silent_p.S917S|TACC2_ENST00000515603.1_Silent_p.S2705S|TACC2_ENST00000260733.3_Silent_p.S905S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2827					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.S2827S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCTGAACTCCGTGGAGAAGT	0.582																																						ENST00000369005.1																			1	Substitution - coding silent(1)	p.S2827S(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8479-8481)tcC>tcT		transforming, acidic coiled-coil containing protein 2							106.0	114.0	111.0					10																	124008246		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124008246C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8481C>T	10.37:g.124008246C>T						TACC2_ENST00000515603.1_Silent_p.S2705S|TACC2_ENST00000334433.3_Silent_p.S2827S|TACC2_ENST00000369004.3_Silent_p.S887S|TACC2_ENST00000260733.3_Silent_p.S905S|TACC2_ENST00000368999.1_Silent_p.S917S|TACC2_ENST00000453444.2_Silent_p.S2754S|TACC2_ENST00000515273.1_Silent_p.S2754S|TACC2_ENST00000360561.3_Silent_p.S875S|TACC2_ENST00000369000.1_Silent_p.S450S|TACC2_ENST00000369001.1_Silent_p.S454S|TACC2_ENST00000358010.1_Silent_p.S973S|TACC2_ENST00000513429.1_Silent_p.S973S	p.S2827S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			20	8821	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2827					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.8481C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.494307	0.01009	.	.	ENSG00000138162	ENST00000490979	.	.	.	5.29	-8.71	0.00848	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-16.984	2.8576	0.05576	0.1354:0.1314:0.3024:0.4308	.	.	.	.	L	71	.	.	P	+	2	0	TACC2	123998236	0.000000	0.05858	0.541000	0.28102	0.195000	0.23768	-5.872000	0.00093	-1.695000	0.01423	-1.799000	0.00621	CCG		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			26	52	0	0	0	1	0	26	52				
WDR36	134430	broad.mit.edu	37	5	110434431	110434431	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:110434431C>A	ENST00000513710.2	+	4	475	c.471C>A	c.(469-471)acC>acA	p.T157T	WDR36_ENST00000506538.2_Silent_p.T157T|WDR36_ENST00000505303.1_Silent_p.T101T			Q8NI36	WDR36_HUMAN	WD repeat domain 36	157					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAGTACATACCTTTAAGGGTC	0.318																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(469-471)acC>acA		WD repeat domain 36							115.0	110.0	112.0					5																	110434431		2202	4299	6501	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110434431C>A	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.471C>A	5.37:g.110434431C>A						WDR36_ENST00000505303.1_Silent_p.T101T|WDR36_ENST00000513710.2_Silent_p.T157T	p.T157T	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	4	1044	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	157					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.471C>A	CCDS4102.1																																																																																				0.318	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		14	33	1	0	0.000151284	1	0.000155038	14	33				
ZNF737	100129842	broad.mit.edu	37	19	20728103	20728103	+	Silent	SNP	C	C	T	rs572242337	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:20728103C>T	ENST00000427401.4	-	4	1000	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTATCTTATGCGCAGTAAGGA	0.403													t|||	2	0.000399361	0.0008	0.0	5008	,	,		22049	0.0		0.001	False		,,,				2504	0.0					ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(904-906)gcG>gcA		zinc finger protein 737							53.0	51.0	52.0					19																	20728103		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728103C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.906G>A	19.37:g.20728103C>T							p.A302A	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1000	-			302					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.906G>A	CCDS54238.1																																																																																				0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		17	34	0	0	0	1	0	17	34				
KIAA1644	85352	broad.mit.edu	37	22	44681532	44681532	+	Silent	SNP	G	G	A	rs201344135		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:44681532G>A	ENST00000381176.4	-	4	507	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGCAGATGTCGTAGTTCATTG	0.572																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(373-375)taC>taT		KIAA1644		G		1,4079		0,1,2039	172.0	167.0	169.0		375	3.0	1.0	22		169	0,8410		0,0,4205	no	coding-synonymous	KIAA1644	NM_001099294.1		0,1,6244	AA,AG,GG		0.0,0.0245,0.0080		125/200	44681532	1,12489	2040	4205	6245	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44681532G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.375C>T	22.37:g.44681532G>A							p.Y125Y	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	507	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	125					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.375C>T	CCDS43025.1																																																																																				0.572	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		28	133	0	0	0	1	0	28	133				
ZNF407	55628	broad.mit.edu	37	18	72345307	72345307	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72345307G>A	ENST00000299687.5	+	1	2332	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	ZNF407_ENST00000309902.6_Missense_Mutation_p.V778I|ZNF407_ENST00000582337.1_Missense_Mutation_p.V778I|ZNF407_ENST00000577538.1_Missense_Mutation_p.V778I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TATTGAAAGGGTATGTATAGG	0.343																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2332-2334)Gta>Ata		zinc finger protein 407							103.0	102.0	102.0					18																	72345307		1846	4089	5935	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345307G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2332G>A	18.37:g.72345307G>A	ENSP00000299687:p.Val778Ile					ZNF407_ENST00000577538.1_Missense_Mutation_p.V778I|ZNF407_ENST00000309902.6_Missense_Mutation_p.V778I|ZNF407_ENST00000582337.1_Missense_Mutation_p.V778I	p.V778I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2332	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	778					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.2332G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399974	0.42613	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.21543	2.0;2.63	5.71	4.84	0.62591	.	0.000000	0.32416	U	0.006137	T	0.20495	0.0493	L	0.46157	1.445	0.36043	D	0.840202	P;B;B	0.41041	0.736;0.197;0.414	B;B;B	0.38500	0.275;0.188;0.092	T	0.20306	-1.0279	10	0.32370	T	0.25	.	14.4874	0.67626	0.0703:0.0:0.9297:0.0	.	778;778;778	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	I	778	ENSP00000299687:V778I;ENSP00000310359:V778I	ENSP00000299687:V778I	V	+	1	0	ZNF407	70474295	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.709000	0.68384	2.180000	0.69256	0.377000	0.23210	GTA		0.343	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		26	41	0	0	0	1	0	26	41				
BAHD1	22893	broad.mit.edu	37	15	40756193	40756193	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40756193C>A	ENST00000416165.1	+	4	2020	c.1949C>A	c.(1948-1950)tCt>tAt	p.S650Y	BAHD1_ENST00000561234.1_Missense_Mutation_p.S649Y|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.S650Y	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	650	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCAAGATCTCTGCCCTCTGG	0.612																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1945-1947)tCt>tAt		bromo adjacent homology domain containing 1							89.0	78.0	82.0					15																	40756193		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40756193C>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1949C>A	15.37:g.40756193C>A	ENSP00000396976:p.Ser650Tyr					BAHD1_ENST00000416165.1_Missense_Mutation_p.S650Y|BAHD1_ENST00000560846.1_Missense_Mutation_p.S650Y	p.S649Y			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	4	2205	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	650			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1946C>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116616	0.94385	.	.	ENSG00000140320	ENST00000416165	D	0.85861	-2.04	5.28	5.28	0.74379	Bromo adjacent homology (BAH) domain (3);	0.059591	0.64402	D	0.000002	D	0.89812	0.6823	L	0.41356	1.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.961;1.0;0.999	D	0.90527	0.4493	10	0.87932	D	0	-20.8138	19.0957	0.93249	0.0:1.0:0.0:0.0	.	650;650;649	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Y	650	ENSP00000396976:S650Y	ENSP00000396976:S650Y	S	+	2	0	BAHD1	38543485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.755000	0.94549	0.655000	0.94253	TCT		0.612	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		18	16	1	0	1.45105e-14	1	1.58388e-14	18	16				
KIAA1324	57535	broad.mit.edu	37	1	109716141	109716141	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109716141G>A	ENST00000369939.3	+	6	925	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A248T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	248					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAGAACCACAGCCTTCTCAGT	0.453																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(742-744)Gcc>Acc		KIAA1324							181.0	162.0	168.0					1																	109716141		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109716141G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.742G>A	1.37:g.109716141G>A	ENSP00000358955:p.Ala248Thr					KIAA1324_ENST00000529753.1_Missense_Mutation_p.A248T	p.A248T	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	925	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	248					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.742G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.569335	0.86439	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.44482	0.92;0.92;0.92	5.0	5.0	0.66597	.	0.190555	0.43747	D	0.000526	T	0.46737	0.1408	L	0.43152	1.355	0.28334	N	0.921646	D;D;D;D	0.89917	1.0;0.986;1.0;1.0	D;P;D;D	0.74348	0.983;0.791;0.983;0.976	T	0.40098	-0.9581	10	0.48119	T	0.1	-30.6529	17.9254	0.88982	0.0:0.0:1.0:0.0	.	248;248;248;248	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	248	ENSP00000358955:A248T;ENSP00000393964:A248T;ENSP00000434595:A248T	ENSP00000358955:A248T	A	+	1	0	KIAA1324	109517664	1.000000	0.71417	0.895000	0.35142	0.935000	0.57460	6.527000	0.73803	2.324000	0.78689	0.645000	0.84053	GCC		0.453	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		37	64	0	0	0	1	0	37	64				
WDR6	11180	broad.mit.edu	37	3	49050727	49050727	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49050727G>A	ENST00000608424.1	+	2	1799	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	WDR6_ENST00000395474.3_Missense_Mutation_p.R617H|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	587					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCACAGGGCGTGATGGAGCC	0.587																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1849-1851)cGt>cAt		WD repeat domain 6							75.0	54.0	61.0					3																	49050727		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050727G>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1760G>A	3.37:g.49050727G>A	ENSP00000477389:p.Arg587His					WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H	p.R617H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2130	+			587					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1850G>A		.	.	.	.	.	.	.	.	.	.	G	16.72	3.201370	0.58234	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;D	0.90261	-0.37;-2.64	5.35	5.35	0.76521	Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.052231	0.85682	D	0.000000	D	0.94447	0.8213	M	0.69185	2.1	0.47737	D	0.999503	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.972;0.998	D	0.92281	0.5833	10	0.21540	T	0.41	-22.1807	19.0531	0.93053	0.0:0.0:1.0:0.0	.	35;587;536	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	H	617;35;536	ENSP00000378857:R617H;ENSP00000413432:R536H	ENSP00000378857:R617H	R	+	2	0	WDR6	49025731	1.000000	0.71417	0.949000	0.38748	0.320000	0.28249	7.111000	0.77077	2.503000	0.84419	0.561000	0.74099	CGT		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			11	13	0	0	0	1	0	11	13				
LMX1B	4010	broad.mit.edu	37	9	129458221	129458221	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:129458221C>T	ENST00000373474.4	+	7	997	c.990C>T	c.(988-990)agC>agT	p.S330S	LMX1B_ENST00000526117.1_Silent_p.S330S|LMX1B_ENST00000425646.2_Silent_p.S307S|LMX1B_ENST00000561065.1_Silent_p.S318S|LMX1B_ENST00000355497.5_Silent_p.S341S			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	330					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						ACGGCAGCAGCGACCCCTTCC	0.672									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(1021-1023)agC>agT		LIM homeobox transcription factor 1, beta							60.0	49.0	53.0					9																	129458221		2201	4299	6500	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129458221C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.990C>T	9.37:g.129458221C>T						LMX1B_ENST00000425646.2_Silent_p.S307S|LMX1B_ENST00000526117.1_Silent_p.S330S|LMX1B_ENST00000373474.4_Silent_p.S330S|LMX1B_ENST00000561065.1_Silent_p.S318S	p.S341S	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			7	1030	+			307					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.1023C>T	CCDS55342.1																																																																																				0.672	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			3	13	0	0	0	1	0	3	13				
KANSL1	284058	broad.mit.edu	37	17	44109032	44109032	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44109032G>A	ENST00000262419.6	-	15	3598	c.3128C>T	c.(3127-3129)gCg>gTg	p.A1043V	KANSL1_ENST00000572904.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000575318.1_Missense_Mutation_p.A979V|KANSL1_ENST00000574590.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A337V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A1043V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1043	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGGACTGTGCGCCAGGGGGAA	0.657																																						ENST00000262419.6																			0											c.(3127-3129)gCg>gTg		KAT8 regulatory NSL complex subunit 1							28.0	28.0	28.0					17																	44109032		2201	4299	6500	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44109032G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3128C>T	17.37:g.44109032G>A	ENSP00000262419:p.Ala1043Val					KANSL1_ENST00000574590.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000575318.1_Missense_Mutation_p.A979V|KANSL1_ENST00000393476.3_Missense_Mutation_p.A337V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A1043V|KANSL1_ENST00000572904.1_Missense_Mutation_p.A1043V	p.A1043V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3598	-			1043					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.3128C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941723	0.73557	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.23754	2.7;2.7;1.89	5.54	5.54	0.83059	.	0.494876	0.22632	N	0.057577	T	0.19005	0.0456	N	0.19112	0.55	0.43803	D	0.99635	P;P;P;P	0.35192	0.489;0.489;0.456;0.456	B;B;B;B	0.29598	0.104;0.104;0.045;0.045	T	0.05068	-1.0908	10	0.62326	D	0.03	-0.3308	18.0627	0.89382	0.0:0.0:1.0:0.0	.	311;374;1043;1043	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	V	1043;1043;337	ENSP00000262419:A1043V;ENSP00000387393:A1043V;ENSP00000377117:A337V	ENSP00000262419:A1043V	A	-	2	0	KIAA1267	41464879	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	5.961000	0.70356	2.604000	0.88044	0.561000	0.74099	GCG		0.657	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		6	16	0	0	0	1	0	6	16				
SGTA	6449	broad.mit.edu	37	19	2768990	2768990	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2768990G>A	ENST00000221566.2	-	2	238	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	26					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCATCGGACGAGAGGCC	0.627																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(76-78)tCc>tTc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							71.0	76.0	74.0					19																	2768990		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2768990G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.77C>T	19.37:g.2768990G>A	ENSP00000221566:p.Ser26Phe						p.S26F	NM_003021.3	NP_003012.1	O43765	SGTA_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)	2	238	-		Hepatocellular(1079;0.137)	26					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.77C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767038	0.31320	.	.	ENSG00000104969	ENST00000221566	T	0.36520	1.25	4.71	4.71	0.59529	.	0.206543	0.45361	D	0.000363	T	0.39733	0.1089	M	0.62088	1.915	0.28814	N	0.898081	B	0.22683	0.073	B	0.26094	0.066	T	0.43956	-0.9359	10	0.62326	D	0.03	-10.4007	15.1628	0.72798	0.0:0.0:1.0:0.0	.	26	O43765	SGTA_HUMAN	F	26	ENSP00000221566:S26F	ENSP00000221566:S26F	S	-	2	0	SGTA	2719990	1.000000	0.71417	0.334000	0.25495	0.065000	0.16274	7.269000	0.78482	2.165000	0.68154	0.491000	0.48974	TCC		0.627	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		15	38	0	0	0	1	0	15	38				
PCDHGA5	56110	broad.mit.edu	37	5	140743899	140743899	+	Start_Codon_SNP	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140743899T>C	ENST00000518069.1	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	1					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGGCAATGGCGAGTCCA	0.562																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1-3)aTg>aCg									40.0	51.0	47.0					5																	140743899		2053	4217	6270	SO:0001582	initiator_codon_variant	0							g.chr5:140743899T>C	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2T>C	5.37:g.140743899T>C	ENSP00000429834:p.Met1Thr					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.M1T	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2	+								Q2M3F5|Q9Y5D2	Translation_Start_Site	SNP	ENST00000518069.1	37	c.2T>C	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255220	0.59321	.	.	ENSG00000253485	ENST00000518069	T	0.45668	0.89	5.42	4.21	0.49690	.	.	.	.	.	T	0.60170	0.2248	.	.	.	0.28126	N	0.930393	D;D	0.67145	0.995;0.996	D;D	0.66979	0.948;0.909	T	0.55296	-0.8163	8	0.87932	D	0	.	10.1381	0.42719	0.1492:0.0:0.0:0.8508	.	1;1	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	T	1	ENSP00000429834:M1T	ENSP00000429834:M1T	M	+	2	0	PCDHGA5	140724083	0.889000	0.30405	0.978000	0.43139	0.035000	0.12851	0.898000	0.28404	0.937000	0.37394	0.460000	0.39030	ATG		0.562	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	Missense_Mutation	13	11	0	0	0	1	0	13	11				
CCDC30	728621	broad.mit.edu	37	1	43119098	43119098	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43119098C>T	ENST00000340612.4	+	14	2125	c.2125C>T	c.(2125-2127)Cct>Tct	p.P709S	CCDC30_ENST00000390640.4_Missense_Mutation_p.P498S|CCDC30_ENST00000342022.4_Missense_Mutation_p.P709S|CCDC30_ENST00000428554.2_Missense_Mutation_p.P709S|CCDC30_ENST00000507855.1_Missense_Mutation_p.P498S			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	709						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGAAATATTGCCTTTATCAAA	0.363																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(2125-2127)Cct>Tct		coiled-coil domain containing 30							86.0	86.0	86.0					1																	43119098		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43119098C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2125C>T	1.37:g.43119098C>T	ENSP00000340378:p.Pro709Ser					CCDC30_ENST00000342022.4_Missense_Mutation_p.P709S|CCDC30_ENST00000390640.4_Missense_Mutation_p.P498S|CCDC30_ENST00000507855.1_Missense_Mutation_p.P498S|CCDC30_ENST00000340612.4_Missense_Mutation_p.P709S	p.P709S			Q5VVM6	CCD30_HUMAN			22	3268	+			709					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.2125C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651068	0.29336	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.1	0.911	0.19343	.	0.329988	0.26635	N	0.023284	T	0.49201	0.1543	L	0.54323	1.7	0.23381	N	0.997793	B;D	0.89917	0.408;1.0	B;D	0.71656	0.111;0.974	T	0.25467	-1.0131	10	0.46703	T	0.11	.	4.1586	0.10273	0.0:0.5454:0.1721:0.2825	.	709;498	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	S	709;498;709;709;498	ENSP00000397035:P709S;ENSP00000426711:P498S;ENSP00000340378:P709S;ENSP00000339280:P709S;ENSP00000375051:P498S	ENSP00000340378:P709S	P	+	1	0	CCDC30	42891685	0.114000	0.22134	0.895000	0.35142	0.042000	0.13812	0.372000	0.20467	0.415000	0.25817	0.655000	0.94253	CCT		0.363	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		27	45	0	0	0	1	0	27	45				
LAMA5	3911	broad.mit.edu	37	20	60895811	60895811	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60895811G>A	ENST00000252999.3	-	49	6698	c.6632C>T	c.(6631-6633)tCc>tTc	p.S2211F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2211	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCAGCGATGGAGGCGTTCAG	0.677																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6631-6633)tCc>tTc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						46.0	40.0	42.0					20																	60895811		2186	4278	6464	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895811G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6632C>T	20.37:g.60895811G>A	ENSP00000252999:p.Ser2211Phe						p.S2211F	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6698	-	Breast(26;1.57e-08)		2211			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6632C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	22.1	4.242062	0.79912	.	.	ENSG00000130702	ENST00000252999	T	0.10573	2.86	4.23	4.23	0.50019	Laminin I (1);	0.239775	0.43579	D	0.000549	T	0.27241	0.0668	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.01972	-1.1237	10	0.62326	D	0.03	.	17.2045	0.86914	0.0:0.0:1.0:0.0	.	2211	O15230	LAMA5_HUMAN	F	2211	ENSP00000252999:S2211F	ENSP00000252999:S2211F	S	-	2	0	LAMA5	60329206	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.289000	0.78701	2.354000	0.79902	0.537000	0.68136	TCC		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	13	0	0	0	1	0	4	13				
HECTD3	79654	broad.mit.edu	37	1	45469960	45469960	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45469960A>G	ENST00000372172.4	-	17	2303	c.2232T>C	c.(2230-2232)tgT>tgC	p.C744C	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.C354C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	744	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGATCCCCACACACTTTCT	0.612																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(2230-2232)tgT>tgC		HECT domain containing E3 ubiquitin protein ligase 3							109.0	111.0	110.0					1																	45469960		2124	4262	6386	SO:0001819	synonymous_variant	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45469960A>G	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2232T>C	1.37:g.45469960A>G						HECTD3_ENST00000372168.3_Silent_p.C354C|HECTD3_ENST00000486132.1_5'UTR	p.C744C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			17	2303	-	Acute lymphoblastic leukemia(166;0.155)		744			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	c.2232T>C	CCDS41318.1																																																																																				0.612	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		24	39	0	0	0	1	0	24	39				
OR6K6	128371	broad.mit.edu	37	1	158725149	158725149	+	Missense_Mutation	SNP	C	C	A	rs201334240		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158725149C>A	ENST00000368144.2	+	1	640	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTGTGGCTTCCTCCTTGTGCT	0.473																																						ENST00000368144.2																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(544-546)Ctc>Atc		olfactory receptor, family 6, subfamily K, member 6							147.0	119.0	128.0					1																	158725149		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725149C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.544C>A	1.37:g.158725149C>A	ENSP00000357126:p.Leu182Ile						p.L182I	NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN			1	640	+	all_hematologic(112;0.0378)		182					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.544C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275779	0.23307	.	.	ENSG00000180433	ENST00000368144	T	0.43294	0.95	5.48	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.186515	0.26248	N	0.025463	T	0.16428	0.0395	L	0.38953	1.18	0.09310	N	1	B	0.26672	0.156	B	0.30943	0.122	T	0.07947	-1.0746	10	0.38643	T	0.18	-16.1213	8.9121	0.35559	0.1486:0.7733:0.0:0.0781	.	182	Q8NGW6	OR6K6_HUMAN	I	182	ENSP00000357126:L182I	ENSP00000357126:L182I	L	+	1	0	OR6K6	156991773	0.000000	0.05858	0.967000	0.41034	0.729000	0.41735	-2.220000	0.01217	1.557000	0.49525	0.655000	0.94253	CTC		0.473	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		20	42	1	0	2.37509e-13	1	2.57931e-13	20	42				
USH2A	7399	broad.mit.edu	37	1	215802302	215802302	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:215802302G>A	ENST00000307340.3	-	71	15759	c.15373C>T	c.(15373-15375)Cgc>Tgc	p.R5125C	USH2A_ENST00000366943.2_Missense_Mutation_p.R5149C|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5125					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCGGGATGCGCAGGACACAT	0.527										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15445-15447)Cgc>Tgc		Usher syndrome 2A (autosomal recessive, mild)							135.0	133.0	133.0					1																	215802302		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802302G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15373C>T	1.37:g.215802302G>A	ENSP00000305941:p.Arg5125Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R5125C	p.R5149C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15831	-			5125					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15445C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849924	0.51270	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.48522	0.81;0.81	5.39	2.18	0.27775	.	0.000000	0.38436	U	0.001688	T	0.40570	0.1122	M	0.61703	1.905	0.50467	D	0.999877	B	0.27068	0.167	B	0.20767	0.031	T	0.46034	-0.9220	10	0.72032	D	0.01	.	8.1282	0.31012	0.0733:0.0:0.5491:0.3776	.	5125	O75445	USH2A_HUMAN	C	5125;5149	ENSP00000305941:R5125C;ENSP00000355910:R5149C	ENSP00000305941:R5125C	R	-	1	0	USH2A	213868925	0.934000	0.31675	0.360000	0.25837	0.025000	0.11179	2.787000	0.47798	1.230000	0.43646	0.591000	0.81541	CGC		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		27	40	0	0	0	1	0	27	40				
CEP170	9859	broad.mit.edu	37	1	243354606	243354606	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:243354606A>G	ENST00000366542.1	-	8	873	c.822T>C	c.(820-822)ggT>ggC	p.G274G	CEP170_ENST00000366543.1_Silent_p.G274G|CEP170_ENST00000366544.1_Silent_p.G274G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	274						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CATGCCCTGCACCTGTTATAT	0.408																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(820-822)ggT>ggC		centrosomal protein 170kDa							81.0	72.0	75.0					1																	243354606		1854	4091	5945	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243354606A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.822T>C	1.37:g.243354606A>G						CEP170_ENST00000366544.1_Silent_p.G274G|CEP170_ENST00000366543.1_Silent_p.G274G	p.G274G	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	873	-	all_neural(11;0.101)	all_cancers(173;0.003)	274					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.822T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	8.171	0.791682	0.16258	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.71	3.59	0.41128	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50866	-0.8777	4	.	.	.	-16.593	5.6538	0.17631	0.699:0.1518:0.1493:0.0	.	.	.	.	A	176	.	.	V	-	2	0	CEP170	241421229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.469000	0.35343	1.767000	0.52121	0.374000	0.22700	GTG		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		7	14	0	0	0	1	0	7	14				
HEPHL1	341208	broad.mit.edu	37	11	93800805	93800805	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:93800805C>T	ENST00000315765.9	+	5	960	c.952C>T	c.(952-954)Cat>Tat	p.H318Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	318	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGCAGAGGGCATCGGACTGA	0.473																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(952-954)Cat>Tat		hephaestin-like 1							174.0	172.0	172.0					11																	93800805		1975	4153	6128	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800805C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.952C>T	11.37:g.93800805C>T	ENSP00000313699:p.His318Tyr						p.H318Y	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	960	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	318			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.952C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511249	0.64522	.	.	ENSG00000181333	ENST00000315765	D	0.99619	-6.28	5.5	5.5	0.81552	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.045742	0.85682	D	0.000000	D	0.98912	0.9631	L	0.52126	1.63	0.58432	D	0.999996	P	0.45283	0.855	P	0.45946	0.498	D	0.99936	1.1363	10	0.22706	T	0.39	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	318	Q6MZM0	HPHL1_HUMAN	Y	318	ENSP00000313699:H318Y	ENSP00000313699:H318Y	H	+	1	0	HEPHL1	93440453	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.533000	0.81994	2.758000	0.94735	0.561000	0.74099	CAT		0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		45	97	0	0	0	1	0	45	97				
MAST3	23031	broad.mit.edu	37	19	18254660	18254660	+	Silent	SNP	C	C	T	rs4808753		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18254660C>T	ENST00000262811.6	+	21	2340	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	780							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCTGAATACCATCAGCCTGG	0.607																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2338-2340)acC>acT		microtubule associated serine/threonine kinase 3							38.0	41.0	40.0					19																	18254660		1971	4155	6126	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18254660C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2340C>T	19.37:g.18254660C>T							p.T780T	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			21	2340	+			780					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2340C>T	CCDS46014.1																																																																																				0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		12	17	0	0	0	1	0	12	17				
DNAJC19	131118	broad.mit.edu	37	3	180704808	180704808	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180704808G>T	ENST00000382564.2	-	4	302	c.132C>A	c.(130-132)gcC>gcA	p.A44A	DNAJC19_ENST00000479269.1_Silent_p.A19A|DNAJC19_ENST00000491873.1_Silent_p.A19A|DNAJC19_ENST00000486355.1_Silent_p.A44A	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	44					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			CACCACTGAAGGCCTGAAAGA	0.323																																						ENST00000382564.2																			0				large_intestine(2)|lung(1)	3						c.(130-132)gcC>gcA		DnaJ (Hsp40) homolog, subfamily C, member 19							73.0	78.0	76.0					3																	180704808		2203	4300	6503	SO:0001819	synonymous_variant	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180704808G>T		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.132C>A	3.37:g.180704808G>T						DNAJC19_ENST00000491873.1_Silent_p.A19A|DNAJC19_ENST00000479269.1_Silent_p.A19A|DNAJC19_ENST00000486355.1_Silent_p.A44A	p.A44A	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		4	302	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		44					B2R4B1|C9JBV1	Silent	SNP	ENST00000382564.2	37	c.132C>A	CCDS33895.1																																																																																				0.323	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261		41	78	1	0	4.06502e-11	1	4.36823e-11	41	78				
FAM184A	79632	broad.mit.edu	37	6	119295631	119295631	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:119295631G>A	ENST00000338891.7	-	14	3320	c.2877C>T	c.(2875-2877)aaC>aaT	p.N959N	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	959						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGAGTAGCTCGTTAGTCTTAT	0.338																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2875-2877)aaC>aaT		family with sequence similarity 184, member A							232.0	214.0	220.0					6																	119295631		1806	4078	5884	SO:0001819	synonymous_variant	79632							g.chr6:119295631G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2877C>T	6.37:g.119295631G>A						FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron	p.N959N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			14	3320	-			959					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2877C>T	CCDS43499.1																																																																																				0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		67	117	0	0	0	1	0	67	117				
MAP3K14	9020	broad.mit.edu	37	17	43368222	43368222	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43368222C>T	ENST00000344686.2	-	0	89							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGGCAGGGGCAAAGGGTCTC	0.527																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14																																						9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43368222C>T	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43368222C>T										Q99558	M3K14_HUMAN			0	89	-								A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	37																																																																																						0.527	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		5	13	0	0	0	1	0	5	13				
ALAS1	211	broad.mit.edu	37	3	52239947	52239947	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52239947C>T	ENST00000394965.2	+	7	1253	c.893C>T	c.(892-894)gCa>gTa	p.A298V	ALAS1_ENST00000484952.1_Missense_Mutation_p.A298V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A298V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A298V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	298					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CGGGAGCTGGCAGACCTCCAT	0.483																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(892-894)gCa>gTa		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						150.0	148.0	149.0					3																	52239947		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239947C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.893C>T	3.37:g.52239947C>T	ENSP00000378416:p.Ala298Val					ALAS1_ENST00000310271.2_Missense_Mutation_p.A298V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A298V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A298V	p.A298V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1253	+			298						Missense_Mutation	SNP	ENST00000394965.2	37	c.893C>T	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571928	0.96553	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99113	1.0847	10	0.87932	D	0	-24.1634	20.1005	0.97872	0.0:1.0:0.0:0.0	.	315;298	B4DVA0;P13196	.;HEM1_HUMAN	V	298	ENSP00000417719:A298V;ENSP00000378416:A298V;ENSP00000309259:A298V;ENSP00000418779:A298V	ENSP00000309259:A298V	A	+	2	0	ALAS1	52214987	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.760000	0.85248	2.758000	0.94735	0.467000	0.42956	GCA		0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			35	54	0	0	0	1	0	35	54				
EPHA1	2041	broad.mit.edu	37	7	143096842	143096842	+	Missense_Mutation	SNP	C	C	T	rs200235266		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143096842C>T	ENST00000275815.3	-	4	823	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	246	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTGCATGCGGGGTGCACC	0.667																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(736-738)cGc>cAc		EPH receptor A1							33.0	35.0	34.0					7																	143096842		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096842C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.737G>A	7.37:g.143096842C>T	ENSP00000275815:p.Arg246His						p.R246H	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	823	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	246			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.737G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697586	0.68386	.	.	ENSG00000146904	ENST00000275815	T	0.73897	-0.79	5.22	4.33	0.51752	.	0.128515	0.32836	N	0.005583	T	0.69646	0.3134	M	0.86651	2.83	0.09310	N	1	P	0.46395	0.877	B	0.29598	0.104	T	0.71364	-0.4615	10	0.87932	D	0	.	8.3986	0.32572	0.0:0.7678:0.0:0.2322	.	246	P21709	EPHA1_HUMAN	H	246	ENSP00000275815:R246H	ENSP00000275815:R246H	R	-	2	0	EPHA1	142806964	0.001000	0.12720	0.908000	0.35775	0.873000	0.50193	0.413000	0.21148	1.406000	0.46857	0.655000	0.94253	CGC		0.667	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			9	18	0	0	0	1	0	9	18				
DAAM1	23002	broad.mit.edu	37	14	59789729	59789729	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59789729C>T	ENST00000395125.1	+	5	583	c.560C>T	c.(559-561)gCg>gTg	p.A187V	DAAM1_ENST00000351081.1_Missense_Mutation_p.A187V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A187V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	187	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGTATAAAGGCGTTAATGAAC	0.438																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(559-561)gCg>gTg		dishevelled associated activator of morphogenesis 1							107.0	100.0	102.0					14																	59789729		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789729C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.560C>T	14.37:g.59789729C>T	ENSP00000378557:p.Ala187Val					DAAM1_ENST00000360909.3_Missense_Mutation_p.A187V|DAAM1_ENST00000351081.1_Missense_Mutation_p.A187V	p.A187V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	583	+			187			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.560C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889452	0.91889	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.92858	-3.12;-3.12;-3.12	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.95832	0.8859	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	187;187	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	187	ENSP00000354162:A187V;ENSP00000247170:A187V;ENSP00000378557:A187V	ENSP00000247170:A187V	A	+	2	0	DAAM1	58859482	1.000000	0.71417	0.991000	0.47740	0.959000	0.62525	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCG		0.438	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		16	24	0	0	0	1	0	16	24				
FBXO42	54455	broad.mit.edu	37	1	16577707	16577707	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16577707G>A	ENST00000375592.3	-	10	1828	c.1612C>T	c.(1612-1614)Cat>Tat	p.H538Y		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	538								p.H538Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTGGGGTATGCACACCATTT	0.577																																						ENST00000375592.3																			1	Substitution - Missense(1)	p.H538Y(1)	large_intestine(1)	autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1612-1614)Cat>Tat		F-box protein 42							101.0	72.0	82.0					1																	16577707		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577707G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1612C>T	1.37:g.16577707G>A	ENSP00000364742:p.His538Tyr						p.H538Y	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1828	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	538					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1612C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226547	0.79576	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.62788	3.49;-0.0;-0.0	5.51	5.51	0.81932	.	0.105878	0.64402	D	0.000002	T	0.65059	0.2655	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.56529	-0.7964	10	0.10636	T	0.68	-15.7388	18.7669	0.91876	0.0:0.0:1.0:0.0	.	538	Q6P3S6	FBX42_HUMAN	Y	538;256;256	ENSP00000364742:H538Y;ENSP00000415663:H256Y;ENSP00000412416:H256Y	ENSP00000364742:H538Y	H	-	1	0	FBXO42	16450294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.874000	0.92363	2.763000	0.94921	0.650000	0.86243	CAT		0.577	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			22	48	0	0	0	1	0	22	48				
TANC2	26115	broad.mit.edu	37	17	61498026	61498026	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61498026C>T	ENST00000424789.2	+	25	4687	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1571P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1561					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGGTTCACCCGTGCGCTATC	0.582																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4681-4683)ccC>ccT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							39.0	40.0	40.0					17																	61498026		1949	4156	6105	SO:0001819	synonymous_variant	26115						binding	g.chr17:61498026C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4683C>T	17.37:g.61498026C>T						TANC2_ENST00000389520.4_Silent_p.P1571P|RP11-269G24.3_ENST00000583552.1_RNA	p.P1561P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4687	+			1561					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.4683C>T	CCDS45754.1																																																																																				0.582	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			12	8	0	0	0	1	0	12	8				
OLFM2	93145	broad.mit.edu	37	19	9967951	9967951	+	Missense_Mutation	SNP	C	C	T	rs535936235	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9967951C>T	ENST00000264833.4	-	4	753	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	OLFM2_ENST00000590841.1_Missense_Mutation_p.A112T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	190					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						AGCTTCTGGGCGCAGGCGTGG	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18210	0.0		0.0	False		,,,				2504	0.0					ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(568-570)Gcc>Acc		olfactomedin 2							65.0	61.0	63.0					19																	9967951		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9967951C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.568G>A	19.37:g.9967951C>T	ENSP00000264833:p.Ala190Thr					OLFM2_ENST00000590841.1_Missense_Mutation_p.A112T	p.A190T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			4	753	-			190					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.568G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881781	0.33255	.	.	ENSG00000105088	ENST00000264833	D	0.87887	-2.31	3.84	3.84	0.44239	.	0.112361	0.56097	D	0.000021	T	0.69424	0.3109	N	0.08118	0	0.32732	N	0.508812	B	0.23058	0.079	B	0.15052	0.012	T	0.67345	-0.5694	9	.	.	.	.	7.1846	0.25793	0.0:0.8798:0.0:0.1202	.	190	O95897	NOE2_HUMAN	T	190	ENSP00000264833:A190T	.	A	-	1	0	OLFM2	9828951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.992000	0.49417	1.988000	0.58038	0.462000	0.41574	GCC		0.627	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			17	20	0	0	0	1	0	17	20				
KMT2D	8085	broad.mit.edu	37	12	49420343	49420343	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49420343G>A	ENST00000301067.7	-	48	15405	c.15406C>T	c.(15406-15408)Cat>Tat	p.H5136Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5136					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGATCTTATGCATTGGACAC	0.522																																						ENST00000301067.7																			0											c.(15406-15408)Cat>Tat		lysine (K)-specific methyltransferase 2D							86.0	87.0	87.0					12																	49420343		2101	4224	6325	SO:0001583	missense	8085							g.chr12:49420343G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15406C>T	12.37:g.49420343G>A	ENSP00000301067:p.His5136Tyr						p.H5136Y	NM_003482.3	NP_003473.3					48	15405	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15406C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284347	0.40394	.	.	ENSG00000167548	ENST00000301067	D	0.85861	-2.04	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.37809	N	0.001926	D	0.94716	0.8295	H	0.95402	3.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96300	0.9220	10	0.87932	D	0	.	16.9322	0.86193	0.0:0.0:1.0:0.0	.	5136	O14686	MLL2_HUMAN	Y	5136	ENSP00000301067:H5136Y	ENSP00000301067:H5136Y	H	-	1	0	MLL2	47706610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.377000	0.81083	0.561000	0.74099	CAT		0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			39	51	0	0	0	1	0	39	51				
ASB14	142686	broad.mit.edu	37	3	57312473	57312473	+	Missense_Mutation	SNP	G	G	A	rs141550235		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:57312473G>A	ENST00000389601.3	-	9	1483	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	ASB14_ENST00000487349.1_Missense_Mutation_p.H455Y	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	455					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTGTCTCCATGTGGGCAATCA	0.433																																						ENST00000487349.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(1363-1365)Cat>Tat		ankyrin repeat and SOCS box containing 14		G	TYR/HIS,TYR/HIS	0,4406		0,0,2203	158.0	150.0	153.0		1363,508	5.1	1.0	3	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASB14	NM_001142733.2,NM_130387.5	83,83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	455/588,170/303	57312473	1,13005	2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chr3:57312473G>A	AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"""Ankyrin repeat domain containing"""	19766	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 14"""			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.1363C>T	3.37:g.57312473G>A	ENSP00000374252:p.His455Tyr					ASB14_ENST00000389601.3_Missense_Mutation_p.H455Y	p.H455Y	NM_001142733.2|NM_130387.5	NP_001136205.2|NP_569058.1	A6NK59	ASB14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	8	1483	-			455					C9JX97|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000389601.3	37	c.1363C>T		.	.	.	.	.	.	.	.	.	.	G	7.612	0.674983	0.14841	0.0	1.16E-4	ENSG00000239388	ENST00000487349;ENST00000389601;ENST00000438870	T;T	0.66995	-0.19;-0.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.51092	0.1654	L	0.29908	0.895	0.39369	D	0.966058	B;B	0.19073	0.004;0.033	B;B	0.21708	0.003;0.036	T	0.42531	-0.9446	9	0.10636	T	0.68	.	11.2939	0.49267	0.0668:0.0:0.8056:0.1276	.	455;170	C9JX97;A6NK59-2	.;.	Y	455;455;291	ENSP00000419199:H455Y;ENSP00000374252:H455Y	ENSP00000374252:H455Y	H	-	1	0	ASB14	57287513	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	3.356000	0.52269	2.880000	0.98712	0.650000	0.86243	CAT		0.433	ASB14-201	KNOWN	basic	protein_coding	protein_coding				5	115	0	0	0	1	0	5	115				
L3MBTL4	91133	broad.mit.edu	37	18	5956310	5956310	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5956310G>A	ENST00000284898.6	-	20	1981	c.1781C>T	c.(1780-1782)gCa>gTa	p.A594V	RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A594V|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A398V|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A585V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	594	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATCTTCAGTGCTGGGCCCAG	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1780-1782)gCa>gTa		l(3)mbt-like 4 (Drosophila)							217.0	208.0	211.0					18																	5956310		1940	4137	6077	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5956310G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1781C>T	18.37:g.5956310G>A	ENSP00000284898:p.Ala594Val					RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A585V|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A594V|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A398V	p.A594V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN			20	1981	-		Colorectal(10;0.0249)	594			SAM.		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1781C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	34	5.302422	0.95601	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.74	5.74	0.90152	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.071612	0.53938	D	0.000043	T	0.75369	0.3840	M	0.90369	3.11	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	T	0.80233	-0.1467	10	0.87932	D	0	.	17.3915	0.87432	0.0:0.0:1.0:0.0	.	594;585	Q8NA19;F8W9S8	LMBL4_HUMAN;.	V	594;585;594;398	ENSP00000382976:A594V;ENSP00000318543:A585V;ENSP00000284898:A594V;ENSP00000444774:A398V	ENSP00000284898:A594V	A	-	2	0	L3MBTL4	5946310	1.000000	0.71417	0.079000	0.20413	0.989000	0.77384	7.574000	0.82434	2.713000	0.92767	0.655000	0.94253	GCA		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		20	124	0	0	0	1	0	20	124				
ZNF833P	401898	broad.mit.edu	37	19	11796424	11796424	+	lincRNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11796424G>T	ENST00000344893.3	+	0	2423					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						AAGGAATGTGGGAAAACATTC	0.363																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5															54.0	53.0	54.0					19																	11796424		2203	4299	6502			0							g.chr19:11796424G>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796424G>T								NR_028594.1						0	2423	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.363	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		22	35	1	0	3.62473e-10	1	3.8659e-10	22	35				
PPP6R2	9701	broad.mit.edu	37	22	50876706	50876706	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50876706C>T	ENST00000216061.5	+	19	2313	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	PPP6R2_ENST00000395744.3_Missense_Mutation_p.A621V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A622V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A621V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	648						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGCTGTGCTGCCCGGGTGATG	0.627																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1861-1863)gCc>gTc		protein phosphatase 6, regulatory subunit 2							89.0	86.0	87.0					22																	50876706		2203	4300	6503	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50876706C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1943C>T	22.37:g.50876706C>T	ENSP00000216061:p.Ala648Val					PPP6R2_ENST00000395744.3_Missense_Mutation_p.A621V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A622V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.A648V	p.A621V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			17	2256	+			648					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1862C>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.077405	0.76528	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.33654	1.4;1.42;1.42;1.43	5.47	5.47	0.80525	.	0.414865	0.29767	N	0.011254	T	0.38852	0.1056	L	0.51422	1.61	0.33632	D	0.606205	B;B;B;B;B;B	0.29136	0.093;0.076;0.046;0.234;0.076;0.12	B;B;B;B;B;B	0.31290	0.092;0.1;0.046;0.127;0.1;0.087	T	0.52253	-0.8600	10	0.54805	T	0.06	-4.7375	18.1031	0.89512	0.0:1.0:0.0:0.0	.	180;648;648;622;621;621	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	621;622;621;648	ENSP00000352051:A621V;ENSP00000379090:A622V;ENSP00000379093:A621V;ENSP00000216061:A648V	ENSP00000216061:A648V	A	+	2	0	PPP6R2	49223572	0.977000	0.34250	0.369000	0.25952	0.010000	0.07245	7.366000	0.79548	2.582000	0.87167	0.561000	0.74099	GCC		0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		5	80	0	0	0	1	0	5	80				
NARFL	64428	broad.mit.edu	37	16	784318	784318	+	Missense_Mutation	SNP	C	C	T	rs141751860	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:784318C>T	ENST00000251588.2	-	6	620	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000540986.1_Missense_Mutation_p.G100S|NARFL_ENST00000568545.1_Missense_Mutation_p.G100S|NARFL_ENST00000301694.5_Silent_p.T157T	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	202					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ATGAAGCTGCCGTGAGTCTTC	0.687													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14940	0.0		0.0	False		,,,				2504	0.0					ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(298-300)Ggc>Agc		nuclear prelamin A recognition factor-like		C	SER/GLY	1,4395	2.1+/-5.4	0,1,2197	37.0	37.0	37.0		604	3.7	0.9	16	dbSNP_134	37	0,8598		0,0,4299	no	missense	NARFL	NM_022493.1	56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	202/477	784318	1,12993	2198	4299	6497	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:784318C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.604G>A	16.37:g.784318C>T	ENSP00000251588:p.Gly202Ser					HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.G100S|NARFL_ENST00000301694.5_Silent_p.T157T|NARFL_ENST00000251588.2_Missense_Mutation_p.G202S	p.G100S			Q9H6Q4	NARFL_HUMAN			5	1733	-		Hepatocellular(780;0.0218)	202					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.298G>A	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894991	0.91962	2.27E-4	0.0	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.44083	0.93;0.93	4.68	3.73	0.42828	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.194907	0.56097	N	0.000040	T	0.55289	0.1911	M	0.67625	2.065	0.80722	D	1	P	0.42993	0.797	P	0.57009	0.811	T	0.51593	-0.8686	10	0.28530	T	0.3	-24.6501	12.0789	0.53659	0.0:0.9166:0.0:0.0833	.	202	Q9H6Q4	NARFL_HUMAN	S	202;100	ENSP00000251588:G202S;ENSP00000444008:G100S	ENSP00000251588:G202S	G	-	1	0	NARFL	724319	1.000000	0.71417	0.926000	0.36857	0.893000	0.52053	3.592000	0.53993	1.215000	0.43411	-0.274000	0.10170	GGC		0.687	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		11	16	0	0	0	1	0	11	16				
KCNV2	169522	broad.mit.edu	37	9	2718473	2718473	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2718473G>A	ENST00000382082.3	+	1	972	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	245					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CAGCGGCGCCGCCTCTGGAAC	0.687																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(733-735)cGc>cAc		potassium channel, subfamily V, member 2							13.0	12.0	12.0					9																	2718473		2120	4168	6288	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718473G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.734G>A	9.37:g.2718473G>A	ENSP00000371514:p.Arg245His						p.R245H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	972	+			245					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.734G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363259	0.61513	.	.	ENSG00000168263	ENST00000382082	D	0.97256	-4.31	4.84	4.84	0.62591	.	0.229208	0.46145	D	0.000304	D	0.95459	0.8525	M	0.62154	1.92	0.39361	D	0.965914	P	0.47910	0.902	B	0.37346	0.247	D	0.96442	0.9327	10	0.59425	D	0.04	.	17.9536	0.89061	0.0:0.0:1.0:0.0	.	245	Q8TDN2	KCNV2_HUMAN	H	245	ENSP00000371514:R245H	ENSP00000371514:R245H	R	+	2	0	KCNV2	2708473	1.000000	0.71417	0.968000	0.41197	0.836000	0.47400	3.010000	0.49559	2.220000	0.72140	0.563000	0.77884	CGC		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		3	3	0	0	0	1	0	3	3				
LRP1	4035	broad.mit.edu	37	12	57596234	57596234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57596234G>A	ENST00000243077.3	+	68	11091	c.10625G>A	c.(10624-10626)cGc>cAc	p.R3542H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3542	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACCAGTTCCGCTGCAAGAAC	0.607																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10624-10626)cGc>cAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						99.0	81.0	87.0					12																	57596234		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57596234G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10625G>A	12.37:g.57596234G>A	ENSP00000243077:p.Arg3542His						p.R3542H	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	68	11091	+			3542			LDL-receptor class A 26.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10625G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941225	0.92526	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.96136	-3.92;-3.92	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	D	0.96738	0.8935	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95915	0.8926	10	0.35671	T	0.21	.	16.8682	0.86034	0.0:0.0:1.0:0.0	.	3542	Q07954	LRP1_HUMAN	H	3542;123	ENSP00000243077:R3542H;ENSP00000451012:R123H	ENSP00000243077:R3542H	R	+	2	0	LRP1	55882501	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.582000	0.60957	2.511000	0.84671	0.650000	0.86243	CGC		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	28	0	0	0	1	0	8	28				
CNOT10	25904	broad.mit.edu	37	3	32811431	32811431	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:32811431C>T	ENST00000328834.5	+	18	2373	c.2057C>T	c.(2056-2058)gCa>gTa	p.A686V	CNOT10_ENST00000331889.6_Missense_Mutation_p.A659V|CNOT10_ENST00000454516.2_Missense_Mutation_p.A746V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	686					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATCTTGCTGGCAGTCTACCTT	0.453																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(2056-2058)gCa>gTa		CCR4-NOT transcription complex, subunit 10							125.0	125.0	125.0					3																	32811431		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32811431C>T	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.2057C>T	3.37:g.32811431C>T	ENSP00000330060:p.Ala686Val					CNOT10_ENST00000454516.2_Missense_Mutation_p.A746V|CNOT10_ENST00000331889.6_Missense_Mutation_p.A659V	p.A686V	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			18	2373	+			686					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.2057C>T	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896657	0.91962	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516;ENST00000430408	T;T;T	0.28666	1.6;1.6;1.6	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.047783	0.85682	D	0.000000	T	0.41811	0.1175	L	0.43923	1.385	0.80722	D	1	P;P;P;P	0.51653	0.947;0.933;0.933;0.89	P;P;P;B	0.52386	0.697;0.623;0.674;0.419	T	0.05699	-1.0869	10	0.39692	T	0.17	-14.0521	19.6512	0.95812	0.0:1.0:0.0:0.0	.	746;659;685;686	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	V	659;686;746;221	ENSP00000329376:A659V;ENSP00000330060:A686V;ENSP00000399862:A746V	ENSP00000330060:A686V	A	+	2	0	CNOT10	32786435	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	6.374000	0.73132	2.646000	0.89796	0.563000	0.77884	GCA		0.453	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		26	34	0	0	0	1	0	26	34				
GSR	2936	broad.mit.edu	37	8	30553908	30553908	+	Missense_Mutation	SNP	G	G	A	rs140665617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30553908G>A	ENST00000221130.5	-	7	874	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	GSR_ENST00000537535.1_Missense_Mutation_p.R262W|GSR_ENST00000541648.1_Missense_Mutation_p.R262W|GSR_ENST00000414019.1_Missense_Mutation_p.R219W|GSR_ENST00000546342.1_Missense_Mutation_p.R262W	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	262					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)			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)	TTATCATGCCGTATCATCAGT	0.423																																						ENST00000221130.5																			0				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						c.(784-786)Cgg>Tgg		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	153.0	159.0		784,784,784,784	4.0	1.0	8	dbSNP_134	159	0,8600		0,0,4300	no	missense,missense,missense,missense	GSR	NM_000637.3,NM_001195102.1,NM_001195103.1,NM_001195104.1	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	262/523,262/494,262/470,262/441	30553908	1,13005	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.chr8:30553908G>A		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.784C>T	8.37:g.30553908G>A	ENSP00000221130:p.Arg262Trp					GSR_ENST00000541648.1_Missense_Mutation_p.R262W|GSR_ENST00000546342.1_Missense_Mutation_p.R262W|GSR_ENST00000414019.1_Missense_Mutation_p.R219W|GSR_ENST00000537535.1_Missense_Mutation_p.R262W	p.R262W	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	7	874	-			262					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.784C>T	CCDS34877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930075|3.930075	0.73327|0.73327	2.27E-4|2.27E-4	0.0|0.0	ENSG00000104687|ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535|ENST00000520888	T;T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01;0.01|.	5.83|5.83	3.98|3.98	0.46160|0.46160	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87398|0.87398	0.6167|0.6167	H|H	0.97491|0.97491	4.015|4.015	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90241|0.90241	0.4286|0.4286	10|5	0.87932|.	D|.	0|.	-13.6855|-13.6855	12.9539|12.9539	0.58416|0.58416	0.0:0.0:0.6956:0.3044|0.0:0.0:0.6956:0.3044	.|.	262|.	P00390|.	GSHR_HUMAN|.	W|M	262;219;262;262;262|215	ENSP00000221130:R262W;ENSP00000390065:R219W;ENSP00000445516:R262W;ENSP00000444559:R262W;ENSP00000438845:R262W|.	ENSP00000221130:R262W|.	R|T	-|-	1|2	2|0	GSR|GSR	30673450|30673450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.694000|0.694000	0.40290|0.40290	5.277000|5.277000	0.65586|0.65586	0.753000|0.753000	0.32945|0.32945	-0.182000|-0.182000	0.12963|0.12963	CGG|ACG		0.423	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			39	47	0	0	0	1	0	39	47				
ARMC3	219681	broad.mit.edu	37	10	23292175	23292175	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:23292175G>A	ENST00000298032.5	+	13	1647	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	ARMC3_ENST00000409049.3_Splice_Site_p.G521G|ARMC3_ENST00000376528.4_Splice_Site_p.G258G|ARMC3_ENST00000409983.3_Splice_Site_p.G521G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	521						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATTGACAGGGCTTTAGATA	0.363																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e13-1		armadillo repeat containing 3							67.0	67.0	67.0					10																	23292175		2203	4300	6503	SO:0001630	splice_region_variant	219681						binding	g.chr10:23292175G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1563-1G>A	10.37:g.23292175G>A						ARMC3_ENST00000376528.4_Splice_Site_p.G258_splice|ARMC3_ENST00000409049.3_Splice_Site_p.G521_splice|ARMC3_ENST00000409983.3_Splice_Site_p.G521_splice	p.G521_splice	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1647	+			521					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Splice_Site	SNP	ENST00000298032.5	37	c.1562_splice	CCDS7142.1																																																																																				0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	Silent	19	35	0	0	0	1	0	19	35				
PKN2	5586	broad.mit.edu	37	1	89236101	89236101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89236101C>T	ENST00000370521.3	+	4	930	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PKN2_ENST00000370513.5_Nonsense_Mutation_p.R191*|PKN2_ENST00000370505.3_Nonsense_Mutation_p.R34*|PKN2_ENST00000316005.7_Nonsense_Mutation_p.R191*	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	191					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGAAGTCATACGAATGCAGAT	0.363																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(571-573)Cga>Tga		protein kinase N2							125.0	123.0	124.0					1																	89236101		1909	4127	6036	SO:0001587	stop_gained	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89236101C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.571C>T	1.37:g.89236101C>T	ENSP00000359552:p.Arg191*					PKN2_ENST00000316005.7_Nonsense_Mutation_p.R191*|PKN2_ENST00000370505.3_Nonsense_Mutation_p.R34*|PKN2_ENST00000370513.5_Nonsense_Mutation_p.R191*	p.R191*	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	4	930	+		Lung NSC(277;0.123)	191					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Nonsense_Mutation	SNP	ENST00000370521.3	37	c.571C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200596	0.94997	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	.	.	.	5.35	4.38	0.52667	.	0.000000	0.42964	U	0.000629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5099	0.56000	0.3367:0.6633:0.0:0.0	.	.	.	.	X	191;191;34;191	.	ENSP00000317851:R191X	R	+	1	2	PKN2	89008689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.208000	0.42797	1.287000	0.44583	0.655000	0.94253	CGA		0.363	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		25	34	0	0	0	1	0	25	34				
SEMG2	6407	broad.mit.edu	37	20	43851292	43851292	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43851292G>A	ENST00000372769.3	+	2	1109	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	340	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAGAGCATGGCCATAAGGAA	0.378																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1018-1020)gGc>gAc		semenogelin II							76.0	73.0	74.0					20																	43851292		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851292G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1019G>A	20.37:g.43851292G>A	ENSP00000361855:p.Gly340Asp						p.G340D	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	1109	+		Myeloproliferative disorder(115;0.0122)	340			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1019G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307558	0.23821	.	.	ENSG00000124157	ENST00000372769	T	0.08807	3.05	0.945	-0.076	0.13724	.	.	.	.	.	T	0.18923	0.0454	L	0.61036	1.89	0.09310	N	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.97110	0.883;1.0;1.0	T	0.11916	-1.0568	9	0.49607	T	0.09	.	3.3032	0.06990	0.3107:0.0:0.6893:0.0	.	340;340;340	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	D	340	ENSP00000361855:G340D	ENSP00000361855:G340D	G	+	2	0	SEMG2	43284706	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.179000	0.09768	-0.021000	0.14009	-0.474000	0.04947	GGC		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		18	41	0	0	0	1	0	18	41				
SMAD7	4092	broad.mit.edu	37	18	46447865	46447865	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:46447865C>T	ENST00000262158.2	-	4	1444	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	SMAD7_ENST00000591805.1_Missense_Mutation_p.M171I|SMAD7_ENST00000589634.1_Missense_Mutation_p.M385I|SMAD7_ENST00000585986.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACGGCTGCTGCATAAACTCGT	0.592																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1156-1158)atG>atA		SMAD family member 7							72.0	63.0	66.0					18																	46447865		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46447865C>T	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1158G>A	18.37:g.46447865C>T	ENSP00000262158:p.Met386Ile					SMAD7_ENST00000591805.1_Missense_Mutation_p.M171I|SMAD7_ENST00000589634.1_Missense_Mutation_p.M385I	p.M386I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1444	-	Colorectal(1;0.0518)		386			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.1158G>A	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962152	0.34659	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.98684	-5.07	5.66	5.66	0.87406	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.278232	0.47093	D	0.000245	D	0.94994	0.8380	N	0.03608	-0.345	0.53688	D	0.999979	B;B	0.18013	0.004;0.025	B;B	0.19666	0.004;0.026	D	0.90717	0.4632	10	0.36615	T	0.2	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	386;198	O15105;B3KYA8	SMAD7_HUMAN;.	I	171;386	ENSP00000262158:M386I	ENSP00000262158:M386I	M	-	3	0	SMAD7	44701863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.679000	0.54634	2.658000	0.90341	0.591000	0.81541	ATG		0.592	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		9	19	0	0	0	1	0	9	19				
KLHL17	339451	broad.mit.edu	37	1	898630	898630	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:898630G>A	ENST00000338591.3	+	7	1291	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	395	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TATGCTGTGGGCGGGTAAGCC	0.672																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1183-1185)gGc>gAc		kelch-like family member 17							50.0	56.0	54.0					1																	898630		2188	4296	6484	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898630G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1184G>A	1.37:g.898630G>A	ENSP00000343930:p.Gly395Asp						p.G395D	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1291	+	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)	395			Interaction with F-actin (By similarity).		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.1184G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355245	0.41700	.	.	ENSG00000187961	ENST00000338591;ENST00000455747;ENST00000540863	D	0.98792	-5.14	5.52	5.52	0.82312	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.99811	4.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97134	0.9820	10	0.87932	D	0	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	395	Q6TDP4	KLH17_HUMAN	D	395;271;118	ENSP00000343930:G395D	ENSP00000343930:G395D	G	+	2	0	KLHL17	888493	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.234000	0.95347	2.608000	0.88229	0.448000	0.29417	GGC		0.672	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		8	8	0	0	0	1	0	8	8				
CD14	929	broad.mit.edu	37	5	140012544	140012544	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140012544G>A	ENST00000302014.6	-	2	654	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	CD14_ENST00000401743.2_Silent_p.L9L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	9					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCAGCAGCAACAAGCAG	0.632																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(25-27)Ctg>Ttg		CD14 molecule							39.0	36.0	37.0					5																	140012544		2203	4300	6503	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012544G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.25C>T	5.37:g.140012544G>A						CD14_ENST00000401743.2_Silent_p.L9L	p.L9L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	654	-			9					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.25C>T	CCDS4232.1																																																																																				0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		7	14	0	0	0	1	0	7	14				
RAB3GAP1	22930	broad.mit.edu	37	2	135908034	135908034	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135908034C>T	ENST00000264158.8	+	18	2062	c.2019C>T	c.(2017-2019)cgC>cgT	p.R673R	RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Silent_p.R629R|RAB3GAP1_ENST00000442034.1_Silent_p.R673R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	673					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCGAGCACGCATGCAGAGTG	0.488																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2017-2019)cgC>cgT		RAB3 GTPase activating protein subunit 1 (catalytic)							83.0	79.0	80.0					2																	135908034		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135908034C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2019C>T	2.37:g.135908034C>T						RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.R673R|RAB3GAP1_ENST00000539493.1_Silent_p.R629R|ZRANB3_ENST00000412849.1_Intron	p.R673R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	18	2062	+			673					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.2019C>T	CCDS33294.1																																																																																				0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		25	34	0	0	0	1	0	25	34				
SPATA18	132671	broad.mit.edu	37	4	52926984	52926984	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:52926984G>A	ENST00000295213.4	+	3	604	c.230G>A	c.(229-231)cGc>cAc	p.R77H	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.R77H	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	77					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATCAAGTCACGCCTTTTGCCT	0.468																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(229-231)cGc>cAc		spermatogenesis associated 18							169.0	139.0	149.0					4																	52926984		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52926984G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.230G>A	4.37:g.52926984G>A	ENSP00000295213:p.Arg77His					SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.R77H	p.R77H	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	604	+			77					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.230G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217268	0.58560	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.54866	0.55;0.63	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.76574	2.34	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.74234	-0.3731	10	0.87932	D	0	-18.2666	13.5497	0.61726	0.0:0.0:1.0:0.0	.	77;77;77	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	H	77	ENSP00000295213:R77H;ENSP00000415309:R77H	ENSP00000295213:R77H	R	+	2	0	SPATA18	52621741	1.000000	0.71417	0.989000	0.46669	0.219000	0.24729	5.147000	0.64851	2.651000	0.90000	0.462000	0.41574	CGC		0.468	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		20	24	0	0	0	1	0	20	24				
FAM89B	23625	broad.mit.edu	37	11	65341082	65341082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65341082G>A	ENST00000530349.1	+	2	682	c.540G>A	c.(538-540)tgG>tgA	p.W180*	FAM89B_ENST00000316409.2_Nonsense_Mutation_p.W167*|EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000449319.2_3'UTR			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	180					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						GTGACCAGTGGCTGCAGGATG	0.652																																						ENST00000316409.2																			0				large_intestine(1)|urinary_tract(2)	3						c.(499-501)tgG>tgA		family with sequence similarity 89, member B							38.0	38.0	38.0					11																	65341082		2201	4297	6498	SO:0001587	stop_gained	23625							g.chr11:65341082G>A	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.540G>A	11.37:g.65341082G>A	ENSP00000431459:p.Trp180*					FAM89B_ENST00000449319.2_3'UTR|FAM89B_ENST00000530349.1_Nonsense_Mutation_p.W180*	p.W167*	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN			2	822	+			167					E9PB01|E9PL72|Q6PJ27	Nonsense_Mutation	SNP	ENST00000530349.1	37	c.501G>A	CCDS53662.1	.	.	.	.	.	.	.	.	.	.	G	37	6.365841	0.97507	.	.	ENSG00000176973	ENST00000316409;ENST00000530349;ENST00000377088	.	.	.	4.72	4.72	0.59763	.	0.000000	0.33496	N	0.004859	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3278	13.0472	0.58933	0.0:0.0:1.0:0.0	.	.	.	.	X	167;180;153	.	ENSP00000314829:W167X	W	+	3	0	FAM89B	65097658	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.584000	0.74057	2.454000	0.82982	0.561000	0.74099	TGG		0.652	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832		13	28	0	0	0	1	0	13	28				
NCOA2	10499	broad.mit.edu	37	8	71068946	71068946	+	Silent	SNP	A	A	G	rs551982887	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71068946A>G	ENST00000452400.2	-	11	1835	c.1654T>C	c.(1654-1656)Ttg>Ctg	p.L552L	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	552					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGTGAAGCCAACGATGACCCT	0.498			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1654-1656)Ttg>Ctg		nuclear receptor coactivator 2							97.0	95.0	95.0					8																	71068946		1895	4129	6024	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068946A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1654T>C	8.37:g.71068946A>G						NCOA2_ENST00000524223.1_Intron	p.L552L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1835	-	Breast(64;0.201)		552					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.1654T>C	CCDS47872.1																																																																																				0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			7	62	0	0	0	1	0	7	62				
DTX1	1840	broad.mit.edu	37	12	113496245	113496245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113496245G>A	ENST00000257600.3	+	1	751	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	83	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCAGTTTCGCCAGGACACA	0.612																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)cGc>cAc		deltex homolog 1 (Drosophila)							104.0	97.0	99.0					12																	113496245		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496245G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.248G>A	12.37:g.113496245G>A	ENSP00000257600:p.Arg83His						p.R83H	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	751	+			83			WWE 1.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.248G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216560	0.79352	.	.	ENSG00000135144	ENST00000257600	T	0.49720	0.77	3.98	3.98	0.46160	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.64402	D	0.000001	T	0.70263	0.3204	M	0.83953	2.67	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	T	0.76626	-0.2890	10	0.72032	D	0.01	-15.1433	15.0523	0.71885	0.0:0.0:1.0:0.0	.	83	Q86Y01	DTX1_HUMAN	H	83	ENSP00000257600:R83H	ENSP00000257600:R83H	R	+	2	0	DTX1	111980628	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	8.899000	0.92544	2.067000	0.61834	0.555000	0.69702	CGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			26	47	0	0	0	1	0	26	47				
SETMAR	6419	broad.mit.edu	37	3	4354786	4354786	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:4354786C>A	ENST00000358065.4	+	2	428	c.361C>A	c.(361-363)Ctg>Atg	p.L121M	SETMAR_ENST00000430981.1_Missense_Mutation_p.L121M|SETMAR_ENST00000425863.1_Missense_Mutation_p.L121M|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	121	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGCAATGTCCTGTGCCGATG	0.473								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(361-363)Ctg>Atg	Chromatin Structure	SET domain and mariner transposase fusion gene							74.0	65.0	68.0					3																	4354786		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4354786C>A	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.361C>A	3.37:g.4354786C>A	ENSP00000373354:p.Leu121Met					SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.L121M|SETMAR_ENST00000425863.1_Missense_Mutation_p.L121M	p.L121M	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	428	+		Melanoma(143;0.0657)	108			Histone-lysine N-methyltransferase.|Pre-SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.361C>A	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	C	4.936	0.173832	0.09391	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	T;T;T	0.77489	-1.1;-1.1;-1.1	5.18	-0.903	0.10534	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	.	.	.	.	T	0.73666	0.3616	L	0.31664	0.95	0.20563	N	0.999889	P;B;B	0.41710	0.76;0.06;0.003	P;B;B	0.51974	0.686;0.103;0.02	T	0.64322	-0.6435	9	0.28530	T	0.3	.	10.7905	0.46429	0.5605:0.3662:0.0:0.0733	.	121;108;121	E7EN68;Q53H47;C9JHK2	.;SETMR_HUMAN;.	M	121	ENSP00000373354:L121M;ENSP00000403000:L121M;ENSP00000403145:L121M	ENSP00000373354:L121M	L	+	1	2	SETMAR	4329786	0.055000	0.20627	0.303000	0.25071	0.582000	0.36321	0.473000	0.22132	-0.099000	0.12263	0.557000	0.71058	CTG		0.473	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		7	13	1	0	5.18039e-06	1	5.37127e-06	7	13				
ASB8	140461	broad.mit.edu	37	12	48543494	48543494	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48543494G>A	ENST00000317697.3	-	4	691	c.522C>T	c.(520-522)ggC>ggT	p.G174G	ASB8_ENST00000536549.1_Silent_p.G174G|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.G174G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TGACCTCTGCGCCATAATCCA	0.532																																						ENST00000317697.3																			1	Substitution - coding silent(1)	p.G174G(1)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(520-522)ggC>ggT		ankyrin repeat and SOCS box containing 8							76.0	73.0	74.0					12																	48543494		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543494G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.522C>T	12.37:g.48543494G>A						ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.G174G|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000537754.1_5'UTR	p.G174G	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	691	-			174					A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.522C>T	CCDS8761.1																																																																																				0.532	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			22	42	0	0	0	1	0	22	42				
RNF220	55182	broad.mit.edu	37	1	45091982	45091982	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45091982C>A	ENST00000355387.2	+	5	1268	c.818C>A	c.(817-819)tCt>tAt	p.S273Y	RNF220_ENST00000372247.2_Missense_Mutation_p.S273Y|RNF220_ENST00000361799.2_Missense_Mutation_p.S273Y|RNF220_ENST00000443020.2_Missense_Mutation_p.S34Y			Q5VTB9	RN220_HUMAN	ring finger protein 220	273					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCCTGTTGTCTGCTTCCATC	0.542																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(817-819)tCt>tAt		ring finger protein 220							102.0	89.0	93.0					1																	45091982		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45091982C>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.818C>A	1.37:g.45091982C>A	ENSP00000347548:p.Ser273Tyr					RNF220_ENST00000361799.2_Missense_Mutation_p.S273Y|RNF220_ENST00000443020.2_Missense_Mutation_p.S34Y|RNF220_ENST00000372247.2_Missense_Mutation_p.S273Y	p.S273Y			Q5VTB9	RN220_HUMAN			5	1268	+			273					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.818C>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164191	0.78339	.	.	ENSG00000187147	ENST00000355387;ENST00000416840;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.34	4.41	0.53225	.	0.063724	0.64402	D	0.000003	D	0.92120	0.7502	L	0.47716	1.5	0.58432	D	0.999999	P;D	0.61697	0.929;0.99	P;D	0.69142	0.624;0.962	D	0.93043	0.6459	10	0.66056	D	0.02	.	16.6462	0.85177	0.0:0.8704:0.1296:0.0	.	34;273	B4DLZ9;Q5VTB9	.;RN220_HUMAN	Y	273;12;273;273;273;34	ENSP00000347548:S273Y;ENSP00000354872:S273Y;ENSP00000361321:S273Y;ENSP00000414640:S34Y	ENSP00000347548:S273Y	S	+	2	0	RNF220	44864569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.286000	0.58995	1.592000	0.50018	0.650000	0.86243	TCT		0.542	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		10	31	1	0	7.48243e-07	1	7.8103e-07	10	31				
SCN9A	6335	broad.mit.edu	37	2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A	rs200671761	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167141099G>A	ENST00000409435.1	-	11	1837	c.1838C>T	c.(1837-1839)cCg>cTg	p.P613L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.P614L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P614L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P613L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	613					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCGTTCACCGGCAGCATTGG	0.587													G|||	10	0.00199681	0.0	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0102					ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1840-1842)cCg>cTg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						89.0	94.0	93.0					2																	167141099		2173	4281	6454	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141099G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1838C>T	2.37:g.167141099G>A	ENSP00000386330:p.Pro613Leu					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P613L|SCN9A_ENST00000375387.4_Missense_Mutation_p.P614L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P613L	p.P614L			Q15858	SCN9A_HUMAN			12	2181	-			613					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1841C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384587	0.42308	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.64	3.81	0.43845	Domain of unknown function DUF3451 (1);	2.459460	0.01511	N	0.017916	D	0.92001	0.7466	M	0.76433	2.335	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.19946	0.027;0.009;0.011	T	0.71069	-0.4699	10	0.46703	T	0.11	.	13.3159	0.60407	0.0:0.1214:0.7522:0.1264	.	613;613;614	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	L	613;614;614;613;478;478	ENSP00000386306:P613L;ENSP00000364536:P614L;ENSP00000304748:P614L;ENSP00000386330:P613L;ENSP00000413212:P478L;ENSP00000393141:P478L	ENSP00000304748:P614L	P	-	2	0	SCN9A	166849345	1.000000	0.71417	0.965000	0.40720	0.430000	0.31655	4.264000	0.58859	0.817000	0.34445	0.557000	0.71058	CCG		0.587	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		26	39	0	0	0	1	0	26	39				
JARID2	3720	broad.mit.edu	37	6	15512454	15512454	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15512454C>T	ENST00000341776.2	+	14	3212	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	JARID2_ENST00000397311.3_Silent_p.L818L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	990	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCCGGAGGTGCTGTGCAAAGA	0.607																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(2968-2970)Ctg>Ttg		jumonji, AT rich interactive domain 2							119.0	93.0	102.0					6																	15512454		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15512454C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2968C>T	6.37:g.15512454C>T						JARID2_ENST00000397311.3_Silent_p.L818L	p.L990L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			14	3212	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	990			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.2968C>T	CCDS4533.1																																																																																				0.607	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		8	13	0	0	0	1	0	8	13				
OSBPL10	114884	broad.mit.edu	37	3	31921246	31921246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:31921246C>A	ENST00000396556.2	-	2	480	c.358G>T	c.(358-360)Gga>Tga	p.G120*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.G120*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	120	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACAGGACTCCTCGAGGCTTC	0.488																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(358-360)Gga>Tga		oxysterol binding protein-like 10							90.0	84.0	86.0					3																	31921246		2203	4300	6503	SO:0001587	stop_gained	114884				lipid transport		lipid binding	g.chr3:31921246C>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.358G>T	3.37:g.31921246C>A	ENSP00000379804:p.Gly120*					OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.G120*	p.G120*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	2	480	-			120			PH.		B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	c.358G>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	37	6.016176	0.97205	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6073	19.4143	0.94688	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000379804:G120X	G	-	1	0	OSBPL10	31896250	1.000000	0.71417	0.962000	0.40283	0.830000	0.47004	7.818000	0.86416	2.589000	0.87451	0.561000	0.74099	GGA		0.488	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			5	34	1	0	0.014758	1	0.0148771	5	34				
KLF13	51621	broad.mit.edu	37	15	31664246	31664246	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31664246G>A	ENST00000307145.3	+	2	969	c.611G>A	c.(610-612)tGc>tAc	p.C204Y	KLF13_ENST00000560473.1_Missense_Mutation_p.C16Y	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	204					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		TGGCAGGACTGCAACAAGAAG	0.642																																						ENST00000307145.3																			0				NS(1)|breast(1)	2						c.(610-612)tGc>tAc		Kruppel-like factor 13							24.0	22.0	23.0					15																	31664246		2200	4299	6499	SO:0001583	missense	51621				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr15:31664246G>A	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.611G>A	15.37:g.31664246G>A	ENSP00000302456:p.Cys204Tyr					KLF13_ENST00000560473.1_Missense_Mutation_p.C16Y	p.C204Y	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)	2	969	+		all_lung(180;3.71e-11)	204					Q9Y356	Missense_Mutation	SNP	ENST00000307145.3	37	c.611G>A	CCDS10025.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132283	0.94473	.	.	ENSG00000169926	ENST00000307145	D	0.98849	-5.18	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	D	0.99527	0.9831	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97903	1.0304	10	0.87932	D	0	.	18.8007	0.92015	0.0:0.0:1.0:0.0	.	204	Q9Y2Y9	KLF13_HUMAN	Y	204	ENSP00000302456:C204Y	ENSP00000302456:C204Y	C	+	2	0	KLF13	29451538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	2.516000	0.84829	0.655000	0.94253	TGC		0.642	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251381.1	NM_015995		3	6	0	0	0	1	0	3	6				
CARM1	10498	broad.mit.edu	37	19	11024683	11024683	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11024683G>A	ENST00000327064.4	+	6	990	c.800G>A	c.(799-801)cGc>cAc	p.R267H	CARM1_ENST00000344150.4_Missense_Mutation_p.R267H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	267	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTCAACGAGCGCATGCTGGAG	0.642																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(799-801)cGc>cAc		coactivator-associated arginine methyltransferase 1							93.0	71.0	78.0					19																	11024683		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11024683G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.800G>A	19.37:g.11024683G>A	ENSP00000325690:p.Arg267His					CARM1_ENST00000344150.4_Missense_Mutation_p.R267H	p.R267H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			6	990	+			267					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.800G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	g	33	5.197937	0.94997	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23552	1.9;1.9	4.93	4.93	0.64822	.	0.120425	0.51477	D	0.000082	T	0.43831	0.1265	L	0.43598	1.365	0.54753	D	0.999985	D;P	0.67145	0.996;0.923	D;P	0.68483	0.958;0.652	T	0.38200	-0.9672	10	0.87932	D	0	-3.8908	17.3276	0.87253	0.0:0.0:1.0:0.0	.	267;267	Q86X55-1;Q86X55	.;CARM1_HUMAN	H	267	ENSP00000325690:R267H;ENSP00000340934:R267H	ENSP00000325690:R267H	R	+	2	0	CARM1	10885683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.439000	0.97543	2.446000	0.82766	0.645000	0.84053	CGC		0.642	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		8	8	0	0	0	1	0	8	8				
TCF7L2	6934	broad.mit.edu	37	10	114903764	114903764	+	Silent	SNP	G	G	A	rs369602107		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:114903764G>A	ENST00000355995.4	+	7	1275	c.768G>A	c.(766-768)ccG>ccA	p.P256P	TCF7L2_ENST00000349937.2_Silent_p.P256P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.P256P|TCF7L2_ENST00000534894.1_Silent_p.P256P|TCF7L2_ENST00000352065.5_Silent_p.P233P|TCF7L2_ENST00000369395.1_Silent_p.P281P|TCF7L2_ENST00000536810.1_Silent_p.P256P|TCF7L2_ENST00000538897.1_Silent_p.P256P|TCF7L2_ENST00000355717.4_Silent_p.P280P|TCF7L2_ENST00000543371.1_Silent_p.P256P|TCF7L2_ENST00000369397.4_Silent_p.P233P|TCF7L2_ENST00000369389.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	256	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCCCCCATCCGCTAGGATGGT	0.463			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(766-768)ccG>ccA		transcription factor 7-like 2 (T-cell specific, HMG-box)							70.0	63.0	65.0					10																	114903764		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114903764G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.768G>A	10.37:g.114903764G>A						TCF7L2_ENST00000538897.1_Silent_p.P256P|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000355717.4_Silent_p.P280P|TCF7L2_ENST00000369395.1_Silent_p.P281P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000534894.1_Silent_p.P256P|TCF7L2_ENST00000355995.4_Silent_p.P256P|TCF7L2_ENST00000352065.5_Silent_p.P233P|TCF7L2_ENST00000543371.1_Silent_p.P256P|TCF7L2_ENST00000369397.4_Silent_p.P233P|TCF7L2_ENST00000349937.2_Silent_p.P256P|TCF7L2_ENST00000536810.1_Silent_p.P256P	p.P256P			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	7	1275	+		Breast(234;0.058)|Colorectal(252;0.0615)	256			Mediates interaction with MAD2L2.|Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.768G>A																																																																																					0.463	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		16	25	0	0	0	1	0	16	25				
LINGO1	84894	broad.mit.edu	37	15	77906603	77906603	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:77906603G>T	ENST00000355300.6	-	2	1820	c.1646C>A	c.(1645-1647)cCt>cAt	p.P549H	LINGO1_ENST00000561030.1_Missense_Mutation_p.P543H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	549					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAGGGGAAAGGCACAGTGGC	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1645-1647)cCt>cAt		leucine rich repeat and Ig domain containing 1							125.0	131.0	129.0					15																	77906603		2166	4258	6424	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906603G>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1646C>A	15.37:g.77906603G>T	ENSP00000347451:p.Pro549His					LINGO1_ENST00000561030.1_Missense_Mutation_p.P543H	p.P549H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	1820	-			549					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1646C>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021455	0.54576	.	.	ENSG00000169783	ENST00000355300	T	0.53640	0.61	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.59012	0.85	T	0.67284	-0.5709	10	0.72032	D	0.01	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	549	Q96FE5	LIGO1_HUMAN	H	549	ENSP00000347451:P549H	ENSP00000347451:P549H	P	-	2	0	LINGO1	75693658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.509000	0.84616	0.561000	0.74099	CCT		0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		16	26	1	0	2.23348e-06	1	2.32236e-06	16	26				
MVP	9961	broad.mit.edu	37	16	29842219	29842219	+	Missense_Mutation	SNP	G	G	A	rs560872333		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29842219G>A	ENST00000357402.5	+	3	284	c.146G>A	c.(145-147)cGc>cAc	p.R49H	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.R49H|MVP_ENST00000566554.1_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	49					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCCCCATGCGCATGGTGACC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		15870	0.0		0.0	False		,,,				2504	0.001					ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(145-147)cGc>cAc		major vault protein							102.0	70.0	81.0					16																	29842219		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29842219G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.146G>A	16.37:g.29842219G>A	ENSP00000349977:p.Arg49His					MVP_ENST00000566554.1_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.R49H|MVP_ENST00000452209.2_Intron	p.R49H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			3	284	+			49					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.146G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713544	0.48517	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.31769	1.48;1.48	5.61	1.2	0.21068	.	0.203334	0.52532	D	0.000075	T	0.23054	0.0557	L	0.43701	1.375	0.80722	D	1	B	0.15473	0.013	B	0.19391	0.025	T	0.04825	-1.0924	10	0.39692	T	0.17	-1.1888	7.6554	0.28373	0.1477:0.2693:0.583:0.0	.	49	Q14764	MVP_HUMAN	H	49	ENSP00000349977:R49H;ENSP00000378760:R49H	ENSP00000349977:R49H	R	+	2	0	MVP	29749720	0.969000	0.33509	0.550000	0.28217	0.805000	0.45488	1.323000	0.33701	0.012000	0.14892	0.561000	0.74099	CGC		0.577	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		9	17	0	0	0	1	0	9	17				
CYP2A13	1553	broad.mit.edu	37	19	41601670	41601670	+	Missense_Mutation	SNP	C	C	T	rs559504306	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:41601670C>T	ENST00000330436.3	+	9	1309	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	437					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R437W(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTCAGGAAAGCGGTACTGTTT	0.572													c|||	2	0.000399361	0.0008	0.0	5008	,	,		15125	0.001		0.0	False		,,,				2504	0.0					ENST00000330436.3																			1	Substitution - Missense(1)	p.R437W(1)	kidney(1)	breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1309-1311)Cgg>Tgg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						119.0	112.0	115.0					19																	41601670		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601670C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1309C>T	19.37:g.41601670C>T	ENSP00000332679:p.Arg437Trp						p.R437W	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1309	+			437					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.1309C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.587684	0.66105	.	.	ENSG00000197838	ENST00000330436	D	0.84873	-1.91	4.18	4.18	0.49190	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	H	0.95504	3.68	0.33608	D	0.603247	D	0.89917	1.0	D	0.97110	1.0	D	0.98106	1.0417	10	0.87932	D	0	.	15.6121	0.76733	0.0:1.0:0.0:0.0	.	437	Q16696	CP2AD_HUMAN	W	437	ENSP00000332679:R437W	ENSP00000332679:R437W	R	+	1	2	CYP2A13	46293510	0.964000	0.33143	0.993000	0.49108	0.960000	0.62799	1.199000	0.32235	2.225000	0.72522	0.568000	0.79292	CGG		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		27	26	0	0	0	1	0	27	26				
AHI1	54806	broad.mit.edu	37	6	135639719	135639719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135639719G>A	ENST00000367800.4	-	24	3580	c.3364C>T	c.(3364-3366)Cga>Tga	p.R1122*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.R1122*|AHI1_ENST00000417892.2_Nonsense_Mutation_p.R476*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1122					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGAGGGGATCGCTCCTTTATC	0.383																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(3364-3366)Cga>Tga		Abelson helper integration site 1							48.0	44.0	45.0					6																	135639719		1826	4085	5911	SO:0001587	stop_gained	54806					adherens junction|cilium|microtubule basal body		g.chr6:135639719G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3364C>T	6.37:g.135639719G>A	ENSP00000356774:p.Arg1122*					AHI1_ENST00000457866.2_Nonsense_Mutation_p.R1122*|AHI1_ENST00000417892.2_Nonsense_Mutation_p.R476*	p.R1122*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	24	3580	-	Breast(56;0.239)|Colorectal(23;0.24)		1122					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	c.3364C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167201	0.94768	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	.	.	.	5.21	3.24	0.37175	.	0.419618	0.22031	N	0.065581	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.7848	7.5729	0.27918	0.0:0.17:0.6213:0.2087	.	.	.	.	X	1122;1122;476;1122	.	ENSP00000265602:R1122X	R	-	1	2	AHI1	135681412	0.963000	0.33076	1.000000	0.80357	0.948000	0.59901	0.701000	0.25616	1.493000	0.48517	0.557000	0.71058	CGA		0.383	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		8	8	0	0	0	1	0	8	8				
EXOC3	11336	broad.mit.edu	37	5	458033	458033	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:458033C>A	ENST00000512944.1	+	6	1372	c.1183C>A	c.(1183-1185)Ctg>Atg	p.L395M	EXOC3_ENST00000315013.5_Missense_Mutation_p.L395M	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	406					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CATCGCCTGGCTGCGGAAAGC	0.522																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1183-1185)Ctg>Atg		exocyst complex component 3							38.0	42.0	41.0					5																	458033		1981	4172	6153	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:458033C>A	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1183C>A	5.37:g.458033C>A	ENSP00000425587:p.Leu395Met					EXOC3_ENST00000315013.5_Missense_Mutation_p.L395M	p.L395M	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		6	1372	+		Ovarian(839;0.0563)	406					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1183C>A	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066550	0.36470	.	.	ENSG00000180104	ENST00000512944;ENST00000315013	T;T	0.06449	3.3;3.3	5.76	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	L	0.41492	1.28	0.80722	D	1	P	0.36438	0.553	P	0.49637	0.617	T	0.32745	-0.9895	10	0.08179	T	0.78	-23.5565	7.9202	0.29841	0.0:0.5974:0.0:0.4026	.	406	O60645	EXOC3_HUMAN	M	395	ENSP00000425587:L395M;ENSP00000323377:L395M	ENSP00000323377:L395M	L	+	1	2	EXOC3	511033	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.299000	0.33424	0.101000	0.17610	0.609000	0.83330	CTG		0.522	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		9	5	1	0	3.09899e-07	1	3.24337e-07	9	5				
PLXNB2	23654	broad.mit.edu	37	22	50728217	50728217	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50728217C>T	ENST00000449103.1	-	3	937	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.C266Y			O15031	PLXB2_HUMAN	plexin B2	266	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTCCCGGCACTGCAGGTC	0.647																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(796-798)tGc>tAc		plexin B2							41.0	45.0	44.0					22																	50728217		2068	4186	6254	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728217C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.797G>A	22.37:g.50728217C>T	ENSP00000409171:p.Cys266Tyr					PLXNB2_ENST00000359337.4_Missense_Mutation_p.C266Y	p.C266Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	937	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	266			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.797G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703228	0.68501	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.72942	-0.7;-0.7;-0.7	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000008	D	0.86682	0.5991	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89632	0.3856	10	0.87932	D	0	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	266	O15031	PLXB2_HUMAN	Y	266	ENSP00000409171:C266Y;ENSP00000352288:C266Y;ENSP00000392620:C266Y	ENSP00000352288:C266Y	C	-	2	0	PLXNB2	49070344	0.883000	0.30277	0.926000	0.36857	0.455000	0.32408	2.611000	0.46334	2.391000	0.81399	0.462000	0.41574	TGC		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		6	21	0	0	0	1	0	6	21				
P2RY6	5031	broad.mit.edu	37	11	73008421	73008421	+	Silent	SNP	G	G	A	rs562631177		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73008421G>A	ENST00000393590.2	+	2	1157	c.858G>A	c.(856-858)acG>acA	p.T286T	P2RY6_ENST00000540124.1_Silent_p.T286T|P2RY6_ENST00000393592.2_Silent_p.T286T|P2RY6_ENST00000393591.1_Silent_p.T286T|P2RY6_ENST00000538328.1_Silent_p.T286T|P2RY6_ENST00000540342.1_Silent_p.T286T|P2RY6_ENST00000542092.1_Silent_p.T286T|P2RY6_ENST00000349767.2_Silent_p.T286T	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	286					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAAAGGCACGCGGCCGTTTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18873	0.0		0.0	False		,,,				2504	0.001					ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(856-858)acG>acA		pyrimidinergic receptor P2Y, G-protein coupled, 6							49.0	51.0	51.0					11																	73008421		2200	4291	6491	SO:0001819	synonymous_variant	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008421G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.858G>A	11.37:g.73008421G>A						P2RY6_ENST00000540342.1_Silent_p.T286T|P2RY6_ENST00000540124.1_Silent_p.T286T|P2RY6_ENST00000542092.1_Silent_p.T286T|P2RY6_ENST00000538328.1_Silent_p.T286T|P2RY6_ENST00000349767.2_Silent_p.T286T|P2RY6_ENST00000393592.2_Silent_p.T286T|P2RY6_ENST00000393591.1_Silent_p.T286T	p.T286T	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	1157	+			286					Q15754	Silent	SNP	ENST00000393590.2	37	c.858G>A	CCDS8220.1																																																																																				0.597	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			25	35	0	0	0	1	0	25	35				
CORO6	84940	broad.mit.edu	37	17	27943827	27943827	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27943827C>T	ENST00000445145.2	-	7	898	c.897G>A	c.(895-897)gaG>gaA	p.E299E	CORO6_ENST00000456796.3_Silent_p.E65E|CORO6_ENST00000345068.5_Silent_p.E299E|CORO6_ENST00000580212.1_Silent_p.E259E|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.E299E|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000388767.3_Silent_p.E299E			Q6QEF8	CORO6_HUMAN	coronin 6	299					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGAAAGGCGGCTCGTCGGTAA	0.582																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(895-897)gaG>gaA		coronin 6							99.0	106.0	104.0					17																	27943827		2203	4300	6503	SO:0001819	synonymous_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27943827C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.897G>A	17.37:g.27943827C>T						RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Silent_p.E299E|CORO6_ENST00000584969.1_Silent_p.E299E|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000580212.1_Silent_p.E259E|CORO6_ENST00000445145.2_Silent_p.E299E|CORO6_ENST00000456796.3_Silent_p.E65E	p.E299E			Q6QEF8	CORO6_HUMAN			8	1110	-			299					B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37	c.897G>A																																																																																					0.582	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		34	56	0	0	0	1	0	34	56				
ESCO1	114799	broad.mit.edu	37	18	19140885	19140885	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19140885T>C	ENST00000269214.5	-	8	2825	c.1888A>G	c.(1888-1890)Aat>Gat	p.N630D		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	630					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TCTTCTGGATTTGAAGCTGTA	0.328																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1888-1890)Aat>Gat		establishment of sister chromatid cohesion N-acetyltransferase 1							119.0	113.0	115.0					18																	19140885		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19140885T>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1888A>G	18.37:g.19140885T>C	ENSP00000269214:p.Asn630Asp						p.N630D	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			8	2825	-			630					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1888A>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689991	0.88735	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59638	0.25;1.71	5.86	5.86	0.93980	.	0.051170	0.85682	D	0.000000	T	0.65238	0.2672	L	0.28556	0.865	0.47009	D	0.999288	D	0.76494	0.999	D	0.74348	0.983	T	0.62793	-0.6779	10	0.30854	T	0.27	-16.7975	16.2652	0.82574	0.0:0.0:0.0:1.0	.	630	Q5FWF5	ESCO1_HUMAN	D	630	ENSP00000269214:N630D;ENSP00000372763:N630D	ENSP00000269214:N630D	N	-	1	0	ESCO1	17394883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.881000	0.69706	2.241000	0.73720	0.528000	0.53228	AAT		0.328	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		8	55	0	0	0	1	0	8	55				
TRUB2	26995	broad.mit.edu	37	9	131073259	131073259	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:131073259C>T	ENST00000372890.4	-	7	910	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TRUB2_ENST00000546104.1_Missense_Mutation_p.A137T|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	193					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCTCTCACGGCCATCTCATAG	0.582																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(577-579)Gcc>Acc		TruB pseudouridine (psi) synthase family member 2							133.0	125.0	128.0					9																	131073259		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131073259C>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.577G>A	9.37:g.131073259C>T	ENSP00000361982:p.Ala193Thr					TRUB2_ENST00000546104.1_Missense_Mutation_p.A137T|TRUB2_ENST00000460320.1_5'UTR	p.A193T	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			7	910	-			193					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.577G>A	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178476	0.78564	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.24723	1.84;1.84	5.48	5.48	0.80851	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66440	-0.5923	10	0.87932	D	0	-17.3453	19.3281	0.94270	0.0:1.0:0.0:0.0	.	193	O95900	TRUB2_HUMAN	T	193;137	ENSP00000361982:A193T;ENSP00000438084:A137T	ENSP00000361982:A193T	A	-	1	0	TRUB2	130113080	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	6.627000	0.74258	2.558000	0.86282	0.561000	0.74099	GCC		0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		28	52	0	0	0	1	0	28	52				
PRKCA	5578	broad.mit.edu	37	17	64728820	64728820	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:64728820C>T	ENST00000413366.3	+	9	959	c.933C>T	c.(931-933)ggC>ggT	p.G311G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	311					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CCAAACTTGGCCCTGCTGGCA	0.448																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(931-933)ggC>ggT		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						195.0	201.0	199.0					17																	64728820		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64728820C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.933C>T	17.37:g.64728820C>T							p.G311G	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		9	959	+			311					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.933C>T	CCDS11664.1																																																																																				0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			56	232	0	0	0	1	0	56	232				
VPREB1	7441	broad.mit.edu	37	22	22599404	22599404	+	Silent	SNP	G	G	A	rs201207008	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22599404G>A	ENST00000403807.3	+	2	232	c.93G>A	c.(91-93)tcG>tcA	p.S31S	VPREB1_ENST00000302273.2_Silent_p.S30S			P12018	VPREB_HUMAN	pre-B lymphocyte 1	31	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CCATGTCCTCGGCCCTTGGAA	0.642													g|||	2	0.000399361	0.0	0.0	5008	,	,		17109	0.002		0.0	False		,,,				2504	0.0					ENST00000403807.3																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(91-93)tcG>tcA		pre-B lymphocyte 1							81.0	79.0	80.0					22																	22599404		2203	4300	6503	SO:0001819	synonymous_variant	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599404G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.93G>A	22.37:g.22599404G>A						VPREB1_ENST00000302273.2_Silent_p.S30S	p.S31S			P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	232	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	31			Framework-1.|Ig-like V-type.		B5MCG2	Silent	SNP	ENST00000403807.3	37	c.93G>A	CCDS13798.1																																																																																				0.642	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			16	29	0	0	0	1	0	16	29				
NFATC2IP	84901	broad.mit.edu	37	16	28975111	28975111	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:28975111C>T	ENST00000320805.4	+	8	1262	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I	NFATC2IP_ENST00000564978.1_Missense_Mutation_p.T117I|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.T104I|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	396	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TTTGATGGGACAAAGCTTTCA	0.572																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(1186-1188)aCa>aTa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							75.0	71.0	72.0					16																	28975111		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28975111C>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1187C>T	16.37:g.28975111C>T	ENSP00000324792:p.Thr396Ile					NFATC2IP_ENST00000564978.1_Missense_Mutation_p.T117I|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.T104I	p.T396I	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			8	1262	+			396			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.1187C>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024479	0.75390	.	.	ENSG00000176953	ENST00000320805	T	0.30448	1.53	6.07	5.07	0.68467	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	0.545427	0.18732	N	0.132710	T	0.40645	0.1125	L	0.38175	1.15	0.33971	D	0.646814	D;P	0.71674	0.998;0.571	D;B	0.63488	0.915;0.225	T	0.44314	-0.9336	10	0.42905	T	0.14	-6.0009	10.8766	0.46915	0.2294:0.7706:0.0:0.0	.	396;115	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	I	396	ENSP00000324792:T396I	ENSP00000324792:T396I	T	+	2	0	NFATC2IP	28882612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.339000	0.33885	2.884000	0.98904	0.655000	0.94253	ACA		0.572	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		14	33	0	0	0	1	0	14	33				
SUN5	140732	broad.mit.edu	37	20	31575487	31575487	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31575487C>T	ENST00000356173.3	-	10	800	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SUN5_ENST00000375523.3_Silent_p.Q211Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	236	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CGTCTGGGGGCTGTGCGTAGT	0.602																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(706-708)caG>caA		Sad1 and UNC84 domain containing 5							89.0	67.0	74.0					20																	31575487		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31575487C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.708G>A	20.37:g.31575487C>T						SUN5_ENST00000375523.3_Silent_p.Q211Q	p.Q236Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			10	800	-			236			SUN.		A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.708G>A	CCDS13209.1																																																																																				0.602	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		7	6	0	0	0	1	0	7	6				
OR10G3	26533	broad.mit.edu	37	14	22038126	22038126	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22038126G>A	ENST00000303532.1	-	1	749	c.750C>T	c.(748-750)acC>acT	p.T250T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T250T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CATAGTACACGGTGACCACGG	0.572																																						ENST00000303532.1																			1	Substitution - coding silent(1)	p.T250T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(748-750)acC>acT		olfactory receptor, family 10, subfamily G, member 3							81.0	86.0	85.0					14																	22038126		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038126G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.750C>T	14.37:g.22038126G>A							p.T250T	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	749	-	all_cancers(95;0.000987)		250					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.750C>T	CCDS32046.1																																																																																				0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			24	47	0	0	0	1	0	24	47				
HOXA4	3201	broad.mit.edu	37	7	27169057	27169057	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27169057G>A	ENST00000360046.5	-	2	815	c.750C>T	c.(748-750)caC>caT	p.H250H	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Silent_p.H250H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	250					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AACAGAGCGTGTGGGCGATCT	0.572																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(748-750)caC>caT		homeobox A4							204.0	171.0	182.0					7																	27169057		2203	4300	6503	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169057G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.750C>T	7.37:g.27169057G>A						HOXA4_ENST00000428284.2_Silent_p.H250H|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	p.H250H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	815	-			250					A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.750C>T	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	6.273	0.418561	0.11870	.	.	ENSG00000197576	ENST00000511914	D	0.96136	-3.92	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000003	D	0.97529	0.9191	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98173	1.0453	7	0.87932	D	0	.	18.9816	0.92757	0.0:0.0:1.0:0.0	.	.	.	.	Y	70	ENSP00000448015:H70Y	ENSP00000448015:H70Y	H	-	1	0	HOXA4	27135582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.743000	0.62110	2.485000	0.83878	0.555000	0.69702	CAC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			25	51	0	0	0	1	0	25	51				
LRWD1	222229	broad.mit.edu	37	7	102106412	102106412	+	Missense_Mutation	SNP	G	G	A	rs139115115		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102106412G>A	ENST00000292616.5	+	2	381	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	77					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTCCGCTGCGCCAACAACCA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19359	0.0		0.001	False		,,,				2504	0.0					ENST00000292616.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(229-231)Gcc>Acc		leucine-rich repeats and WD repeat domain containing 1		G	THR/ALA	0,4406		0,0,2203	47.0	47.0	47.0		229	1.0	0.3	7	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRWD1	NM_152892.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	77/648	102106412	1,13005	2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106412G>A	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.229G>A	7.37:g.102106412G>A	ENSP00000292616:p.Ala77Thr						p.A77T	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN			2	381	+			77					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.229G>A	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	8.154	0.788012	0.16258	0.0	1.16E-4	ENSG00000161036	ENST00000292616	T	0.56941	0.43	5.19	1.01	0.19927	.	0.552734	0.20764	N	0.086110	T	0.28599	0.0708	N	0.19112	0.55	0.26541	N	0.974076	B	0.11235	0.004	B	0.06405	0.002	T	0.10520	-1.0626	10	0.16896	T	0.51	-26.7686	4.769	0.13146	0.2249:0.0:0.4959:0.2792	.	77	Q9UFC0	LRWD1_HUMAN	T	77	ENSP00000292616:A77T	ENSP00000292616:A77T	A	+	1	0	LRWD1	101893417	0.010000	0.17322	0.279000	0.24732	0.924000	0.55760	0.289000	0.18957	0.542000	0.28846	0.561000	0.74099	GCC		0.632	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		3	20	0	0	0	1	0	3	20				
C19orf44	84167	broad.mit.edu	37	19	16630047	16630047	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16630047C>T	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.D892N|CHERP_ENST00000198939.6_Missense_Mutation_p.D903N|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TCATAGGGGTCATCCAGAGCC	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2674-2676)Gac>Aac		calcium homeostasis endoplasmic reticulum protein							60.0	64.0	63.0					19																	16630047		2042	4184	6226	SO:0001627	intron_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16630047C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-858C>T	19.37:g.16630047C>T						CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.D903N|CHERP_ENST00000544299.1_5'UTR	p.D892N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			17	2825	-			892					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2674G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622127	0.87460	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.60548	0.18;0.21	5.21	5.21	0.72293	.	.	.	.	.	T	0.76364	0.3977	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.79475	-0.1788	9	0.87932	D	0	-26.1472	17.7484	0.88427	0.0:1.0:0.0:0.0	.	892	Q8IWX8	CHERP_HUMAN	N	892;903	ENSP00000439856:D892N;ENSP00000198939:D903N	ENSP00000198939:D903N	D	-	1	0	CHERP	16491047	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.290000	0.78711	2.434000	0.82447	0.555000	0.69702	GAC		0.632	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		15	16	0	0	0	1	0	15	16				
SETX	23064	broad.mit.edu	37	9	135139756	135139756	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:135139756G>A	ENST00000224140.5	-	26	8086	c.7904C>T	c.(7903-7905)gCc>gTc	p.A2635V	SETX_ENST00000393220.1_Missense_Mutation_p.A2602V|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.A2664V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2635					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAAGCCCTGGCCTCTCTCCT	0.607																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(7990-7992)gCc>gTc		senataxin							186.0	194.0	191.0					9																	135139756		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135139756G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7904C>T	9.37:g.135139756G>A	ENSP00000224140:p.Ala2635Val					SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.A2635V|SETX_ENST00000393220.1_Missense_Mutation_p.A2602V	p.A2664V			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	27	8173	-		Myeloproliferative disorder(178;0.204)	2635			Necessary for nuclear localization.		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7991C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334360	0.24253	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89810	-2.01;-2.57;-2.06;-1.69	5.57	-1.56	0.08532	.	4.545380	0.00166	N	0.000014	T	0.75199	0.3817	N	0.08118	0	0.09310	N	1	B;B;B	0.16802	0.019;0.006;0.019	B;B;B	0.12837	0.008;0.002;0.008	T	0.64067	-0.6494	10	0.24483	T	0.36	.	3.0352	0.06119	0.1445:0.1077:0.4188:0.329	.	2602;2635;2664	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	2635;906;2664;2602	ENSP00000224140:A2635V;ENSP00000409143:A906V;ENSP00000361242:A2664V;ENSP00000376913:A2602V	ENSP00000224140:A2635V	A	-	2	0	SETX	134129577	0.000000	0.05858	0.031000	0.17742	0.241000	0.25554	0.311000	0.19380	0.030000	0.15379	0.491000	0.48974	GCC		0.607	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		104	129	0	0	0	1	0	104	129				
NELFB	25920	broad.mit.edu	37	9	140151431	140151431	+	Silent	SNP	C	C	T	rs575510067		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140151431C>T	ENST00000343053.4	+	4	859	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	174					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGAAGGAGAGCGCTCTCTTCA	0.617																																						ENST00000343053.4																			0											c.(520-522)agC>agT		negative elongation factor complex member B							96.0	86.0	89.0					9																	140151431		2203	4300	6503	SO:0001819	synonymous_variant	25920							g.chr9:140151431C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.522C>T	9.37:g.140151431C>T							p.S174S	NM_015456.3	NP_056271.2					4	859	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	ENST00000343053.4	37	c.522C>T	CCDS7040.1																																																																																				0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		29	38	0	0	0	1	0	29	38				
DOCK9	23348	broad.mit.edu	37	13	99481631	99481631	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99481631G>A	ENST00000376460.1	-	43	4906	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1610M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1610	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGCTCGGGCGTGCTGGCATA	0.587																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4825-4827)aCg>aTg		dedicator of cytokinesis 9							72.0	72.0	72.0					13																	99481631		2079	4229	6308	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481631G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4826C>T	13.37:g.99481631G>A	ENSP00000365643:p.Thr1609Met					DOCK9_ENST00000339416.2_Missense_Mutation_p.T1610M|DOCK9_ENST00000448493.2_3'UTR	p.T1609M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			43	4906	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1610			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4826C>T	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.256892|4.256892	0.80246|0.80246	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000419908|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449	.|T;T;T	.|0.69435	.|2.24;2.32;-0.4	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85792|0.85792	0.5779|0.5779	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.998;0.996;0.987;0.994;0.984;0.973;0.99;0.994	D|D	0.87203|0.87203	0.2242|0.2242	5|10	.|0.87932	.|D	.|0	.|.	20.3626|20.3626	0.98863|0.98863	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1610;329;253;1609;253;1610;302;252	.|A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;.;.;DOCK9_HUMAN;.;.	C|M	27|1609;1610;1602;1610;1609;540;1610;252;253	.|ENSP00000365643:T1609M;ENSP00000341086:T1610M;ENSP00000344702:T253M	.|ENSP00000341086:T1610M	R|T	-|-	1|2	0|0	DOCK9|DOCK9	98279632|98279632	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.731000|0.731000	0.41821|0.41821	9.315000|9.315000	0.96313|0.96313	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.587	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		8	10	0	0	0	1	0	8	10				
HCFC1	3054	broad.mit.edu	37	X	153216313	153216313	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153216313G>A	ENST00000310441.7	-	23	6620	c.5654C>T	c.(5653-5655)aCg>aTg	p.T1885M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1816M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1930M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1885	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGGCACGTCTTAAAGGC	0.572																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5653-5655)aCg>aTg		host cell factor C1 (VP16-accessory protein)							106.0	115.0	112.0					X																	153216313		1939	4114	6053	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216313G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5654C>T	X.37:g.153216313G>A	ENSP00000309555:p.Thr1885Met					HCFC1_ENST00000369984.4_Missense_Mutation_p.T1930M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1816M	p.T1885M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6620	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1885					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5654C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067141	0.93898	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.64991	-0.13;-0.13;-0.13	5.64	5.64	0.86602	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.90759	3.145	0.50467	D	0.999874	D	0.89917	1.0	D	0.85130	0.997	D	0.86888	0.2046	10	0.87932	D	0	.	17.4869	0.87691	0.0:0.0:1.0:0.0	.	1885	P51610	HCFC1_HUMAN	M	1885;1930;1816	ENSP00000309555:T1885M;ENSP00000359001:T1930M;ENSP00000346174:T1816M	ENSP00000309555:T1885M	T	-	2	0	HCFC1	152869507	1.000000	0.71417	0.939000	0.37840	0.915000	0.54546	9.469000	0.97679	2.399000	0.81585	0.521000	0.50471	ACG		0.572	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		56	18	0	0	0	1	0	56	18				
HCFC2	29915	broad.mit.edu	37	12	104476381	104476381	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104476381C>T	ENST00000229330.4	+	6	975	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	291					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCTAAATCTGGGTGAGTC	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(871-873)Ctg>Ttg		host cell factor C2							91.0	90.0	90.0					12																	104476381		2203	4300	6503	SO:0001819	synonymous_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476381C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.871C>T	12.37:g.104476381C>T							p.L291L	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			6	975	+			291					B2R8Q5|C0H5X3	Silent	SNP	ENST00000229330.4	37	c.871C>T	CCDS9097.1																																																																																				0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		21	32	0	0	0	1	0	21	32				
BMP5	653	broad.mit.edu	37	6	55620455	55620455	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:55620455A>G	ENST00000370830.3	-	7	1939	c.1241T>C	c.(1240-1242)gTa>gCa	p.V414A	BMP5_ENST00000446683.2_Missense_Mutation_p.V377A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	414					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGGCTTTGGTACGTGGTCAGG	0.318																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1240-1242)gTa>gCa		bone morphogenetic protein 5							107.0	106.0	106.0					6																	55620455		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620455A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1241T>C	6.37:g.55620455A>G	ENSP00000359866:p.Val414Ala					BMP5_ENST00000446683.2_Missense_Mutation_p.V377A	p.V414A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		7	1939	-	Lung NSC(77;0.0462)		414					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1241T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126662	0.77549	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.83506	-1.73;-1.73	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88640	0.3175	10	0.87932	D	0	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	377;414	B4E0Y4;P22003	.;BMP5_HUMAN	A	414;377	ENSP00000359866:V414A;ENSP00000391818:V377A	ENSP00000359866:V414A	V	-	2	0	BMP5	55728414	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.287000	0.95975	2.302000	0.77476	0.533000	0.62120	GTA		0.318	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			37	49	0	0	0	1	0	37	49				
GNPAT	8443	broad.mit.edu	37	1	231396268	231396268	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:231396268C>A	ENST00000366647.4	+	3	446	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GNPAT_ENST00000366646.3_Missense_Mutation_p.L32I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	93					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAAGGAATCCCTTCAATCTGT	0.408																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(277-279)Ctt>Att		glyceronephosphate O-acyltransferase							166.0	172.0	170.0					1																	231396268		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231396268C>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.277C>A	1.37:g.231396268C>A	ENSP00000355607:p.Leu93Ile					GNPAT_ENST00000366646.3_Missense_Mutation_p.L32I	p.L93I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			3	446	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	93					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.277C>A	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325058	0.41197	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.85773	-2.03;-0.04;-0.03;-0.03	5.74	1.5	0.22942	.	0.601510	0.16593	N	0.207678	T	0.76637	0.4015	L	0.44542	1.39	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.15484	0.013;0.003	T	0.63616	-0.6597	10	0.39692	T	0.17	-21.7091	6.813	0.23814	0.1112:0.3085:0.5049:0.0754	.	32;93	B4DNM9;O15228	.;GNPAT_HUMAN	I	32;93;32;93	ENSP00000402811:L32I;ENSP00000355607:L93I;ENSP00000355606:L32I;ENSP00000411640:L93I	ENSP00000355606:L32I	L	+	1	0	GNPAT	229462891	0.899000	0.30636	0.002000	0.10522	0.900000	0.52787	2.732000	0.47352	0.338000	0.23692	0.563000	0.77884	CTT		0.408	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			51	87	1	0	1.46357e-32	1	1.64217e-32	51	87				
HLCS	3141	broad.mit.edu	37	21	38269241	38269241	+	Missense_Mutation	SNP	C	C	T	rs74574054		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:38269241C>T	ENST00000399120.1	-	7	2600	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.R457H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	457					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CAGATTTTGGCGATAGATCTC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20730	0.0		0.0	False		,,,				2504	0.0					ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1369-1371)cGc>cAc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)	C	HIS/ARG,HIS/ARG,HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	111.0	97.0	102.0		1370,1370,1370	3.3	0.2	21	dbSNP_131	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	29,29,29	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging,probably-damaging,probably-damaging	457/727,457/727,457/727	38269241	7,12999	2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38269241C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1370G>A	21.37:g.38269241C>T	ENSP00000382071:p.Arg457His					HLCS_ENST00000336648.3_Missense_Mutation_p.R457H|HLCS_ENST00000482273.1_5'UTR	p.R457H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2600	-		Myeloproliferative disorder(46;0.0422)	457					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1370G>A	CCDS13647.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.87	2.367515	0.42003	0.001362	1.16E-4	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97041	-4.22;-4.22	5.12	3.28	0.37604	.	0.306610	0.33959	N	0.004385	D	0.94866	0.8341	M	0.61703	1.905	0.21290	N	0.999739	D	0.63046	0.992	P	0.45343	0.477	D	0.87953	0.2725	10	0.16420	T	0.52	.	8.849	0.35188	0.0:0.7092:0.0:0.2908	.	457	P50747	BPL1_HUMAN	H	457	ENSP00000382071:R457H;ENSP00000338387:R457H	ENSP00000338387:R457H	R	-	2	0	HLCS	37191111	0.690000	0.27699	0.240000	0.24138	0.262000	0.26303	1.173000	0.31920	0.659000	0.30945	0.563000	0.77884	CGC		0.468	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			5	27	0	0	0	1	0	5	27				
TRPC7	57113	broad.mit.edu	37	5	135692605	135692605	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:135692605G>A	ENST00000513104.1	-	2	753	c.471C>T	c.(469-471)gaC>gaT	p.D157D	TRPC7_ENST00000426057.2_Silent_p.D157D|TRPC7_ENST00000355180.3_Silent_p.D157D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	157					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGCGTGCCGTCCTCGTCGT	0.662																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(469-471)gaC>gaT		transient receptor potential cation channel, subfamily C, member 7							131.0	139.0	136.0					5																	135692605		2203	4300	6503	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692605G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.471C>T	5.37:g.135692605G>A						TRPC7_ENST00000426057.2_Silent_p.D157D|TRPC7_ENST00000355180.3_Silent_p.D157D	p.D157D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	753	-			157					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.471C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172596	0.21704	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.27	-4.28	0.03732	.	.	.	.	.	T	0.63850	0.2546	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64015	-0.6506	4	.	.	.	-23.3719	15.1125	0.72368	0.8762:0.0:0.1238:0.0	.	.	.	.	W	157	.	.	R	-	1	2	TRPC7	135720504	0.866000	0.29940	0.977000	0.42913	0.999000	0.98932	0.007000	0.13174	-0.776000	0.04578	0.655000	0.94253	CGG		0.662	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		21	75	0	0	0	1	0	21	75				
GPRASP2	114928	broad.mit.edu	37	X	101969964	101969964	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:101969964C>A	ENST00000535209.1	+	4	998	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56Y|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S56Y			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	56						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGACCAAGTCTGTGCCTGCG	0.567																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(166-168)tCt>tAt		G protein-coupled receptor associated sorting protein 2							106.0	96.0	99.0					X																	101969964		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101969964C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.167C>A	X.37:g.101969964C>A	ENSP00000437394:p.Ser56Tyr					GPRASP2_ENST00000332262.5_Missense_Mutation_p.S56Y|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S56Y	p.S56Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1086	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.167C>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190491	0.09547	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08634	3.07;3.07;3.07	4.6	1.86	0.25419	.	0.800555	0.10613	N	0.654215	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	P	0.37864	0.61	B	0.38803	0.282	T	0.36114	-0.9761	10	0.66056	D	0.02	.	8.2213	0.31543	0.0:0.7111:0.0:0.2889	.	56	Q96D09	GASP2_HUMAN	Y	56	ENSP00000437872:S56Y;ENSP00000437394:S56Y;ENSP00000339057:S56Y	ENSP00000339057:S56Y	S	+	2	0	GPRASP2	101856620	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.100000	0.15231	0.125000	0.18397	-0.297000	0.09499	TCT		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		26	5	1	0	4.26978e-12	1	4.60954e-12	26	5				
TRAJ45	28710	broad.mit.edu	37	14	22962402	22962402	+	RNA	SNP	C	C	T	rs185825250	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22962402C>T	ENST00000390492.1	+	0	0				TRAJ43_ENST00000390494.1_RNA|TRAJ48_ENST00000390489.1_RNA|TRAJ47_ENST00000390490.1_RNA|TRAJ46_ENST00000390491.1_RNA|TRAJ44_ENST00000390493.1_RNA					T cell receptor alpha joining 45																		AGAAAAGCAGCGGAGACAAGC	0.473													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20841	0.0		0.0	False		,,,				2504	0.0					ENST00000390491.1																			0																				62.0	66.0	65.0					14																	22962402		1898	4146	6044			0							g.chr14:22962402C>T	M94081		14q11.2	2012-02-07			ENSG00000211844	ENSG00000211844		"""T cell receptors / TRA locus"""	12076	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170922		14.37:g.22962402C>T														0	14	+									RNA	SNP	ENST00000390492.1	37																																																																																						0.473	TRAJ45-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410953.1	NG_001332		7	5	0	0	0	1	0	7	5				
MACROD2	140733	broad.mit.edu	37	20	14665495	14665495	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:14665495G>A	ENST00000310348.4	+	5	308	c.308G>A	c.(307-309)gGc>gAc	p.G103D	MACROD2_ENST00000217246.4_Missense_Mutation_p.G103D|MACROD2_ENST00000464883.1_3'UTR			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	103	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTAGTGGATGGCTGTATTCAT	0.408																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(307-309)gGc>gAc		MACRO domain containing 2							135.0	125.0	128.0					20																	14665495		1862	4098	5960	SO:0001583	missense	140733							g.chr20:14665495G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.308G>A	20.37:g.14665495G>A	ENSP00000309809:p.Gly103Asp					MACROD2_ENST00000310348.4_Missense_Mutation_p.G103D|MACROD2_ENST00000464883.1_3'UTR	p.G103D	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			5	703	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	103			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.308G>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978578	0.92982	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.25414	1.8;1.8	5.62	5.62	0.85841	Appr-1-p processing (3);	0.081704	0.46145	D	0.000311	T	0.64875	0.2638	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.75252	-0.3383	10	0.87932	D	0	-4.5489	18.6571	0.91458	0.0:0.0:1.0:0.0	.	103;103	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	D	103	ENSP00000217246:G103D;ENSP00000309809:G103D	ENSP00000217246:G103D	G	+	2	0	MACROD2	14613495	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.642000	0.89623	0.655000	0.94253	GGC		0.408	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		30	67	0	0	0	1	0	30	67				
RITA1	84934	broad.mit.edu	37	12	113629387	113629387	+	Missense_Mutation	SNP	G	G	A	rs530217771		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:113629387G>A	ENST00000548278.1	+	4	1267	c.575G>A	c.(574-576)cGc>cAc	p.R192H	C12orf52_ENST00000552495.1_Missense_Mutation_p.R216H|C12orf52_ENST00000549621.1_Missense_Mutation_p.R192H|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		192	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CACTCTTCACGCCCCCTGAAG	0.612																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(574-576)cGc>cAc		chromosome 12 open reading frame 52							57.0	56.0	56.0					12																	113629387		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629387G>A																												ENST00000548278.1:c.575G>A	12.37:g.113629387G>A	ENSP00000449841:p.Arg192His					C12orf52_ENST00000552495.1_Missense_Mutation_p.R216H|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.R192H	p.R192H	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1267	+			192			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.575G>A	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785510	0.16189	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.32023	1.48;1.48;1.47	4.59	-3.0	0.05480	.	1.409700	0.04786	N	0.430640	T	0.15262	0.0368	N	0.05510	-0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30149	-0.9988	10	0.15499	T	0.54	-0.286	10.2898	0.43588	0.6528:0.0:0.3472:0.0	.	216;192	F8VRG5;Q96K30	.;RITA_HUMAN	H	192;192;216;192;189	ENSP00000448289:R192H;ENSP00000449841:R192H;ENSP00000448680:R216H	ENSP00000266813:R189H	R	+	2	0	C12orf52	112113770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.722000	0.00810	-1.001000	0.03434	-1.686000	0.00732	CGC		0.612	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			14	12	0	0	0	1	0	14	12				
MRVI1	10335	broad.mit.edu	37	11	10622544	10622544	+	Silent	SNP	C	C	T	rs201976412		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10622544C>T	ENST00000436272.1	-	14	1935	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Silent_p.T555T|MRVI1_ENST00000531107.1_Silent_p.T638T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000421747.1_Silent_p.T637T|MRVI1_ENST00000558540.1_Silent_p.T331T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000423302.2_Silent_p.T646T|MRVI1_ENST00000527509.2_Silent_p.T555T|MRVI1_ENST00000541483.1_Silent_p.T440T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000545852.1_Silent_p.T331T|MRVI1_ENST00000534266.2_Silent_p.T331T|MRVI1_ENST00000547195.1_Silent_p.T555T|MRVI1_ENST00000424001.1_Silent_p.T331T			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	619					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCTTCTCATACGTCCTCTTTA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		22050	0.0		0.001	False		,,,				2504	0.0					ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1663-1665)acG>acA		murine retrovirus integration site 1 homolog		C	,,,,,	2,3938		0,2,1968	231.0	227.0	228.0		1914,1665,993,1320,993,1938	-6.6	0.7	11		228	1,8295		0,1,4147	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	,,,,,	0,3,6115	TT,TC,CC		0.0121,0.0508,0.0245	,,,,,	638/905,555/822,331/598,440/707,331/598,646/913	10622544	3,12233	1970	4148	6118	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622544C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1857G>A	11.37:g.10622544C>T						MRVI1_ENST00000552103.1_Silent_p.T555T|MRVI1_ENST00000423302.2_Silent_p.T646T|MRVI1_ENST00000436272.1_Silent_p.T619T|MRVI1_ENST00000558540.1_Silent_p.T331T|MRVI1_ENST00000545852.1_Silent_p.T331T|MRVI1_ENST00000424001.1_Silent_p.T331T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Silent_p.T555T|MRVI1_ENST00000534266.2_Silent_p.T331T|MRVI1_ENST00000421747.1_Silent_p.T637T|MRVI1_ENST00000531107.1_Silent_p.T638T|MRVI1_ENST00000541483.1_Silent_p.T440T	p.T555T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2165	-			619					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.1665G>A																																																																																					0.522	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		55	80	0	0	0	1	0	55	80				
MRPL47	57129	broad.mit.edu	37	3	179320470	179320470	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179320470T>C	ENST00000476781.1	-	2	243	c.214A>G	c.(214-216)Aaa>Gaa	p.K72E	MRPL47_ENST00000259038.2_Missense_Mutation_p.K52E|NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	72					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CCCCAGTTTTTTGGGTCATCA	0.418																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(214-216)Aaa>Gaa		mitochondrial ribosomal protein L47							76.0	83.0	81.0					3																	179320470		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320470T>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.214A>G	3.37:g.179320470T>C	ENSP00000417602:p.Lys72Glu					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Missense_Mutation_p.K52E	p.K72E	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	243	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		72					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.214A>G	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441783	0.43326	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.33865	1.39;1.41	5.94	3.55	0.40652	.	0.117723	0.56097	N	0.000024	T	0.25005	0.0607	L	0.31065	0.9	0.80722	D	1	B;B	0.26363	0.014;0.147	B;B	0.28991	0.014;0.097	T	0.04723	-1.0931	10	0.35671	T	0.21	-15.5943	7.367	0.26779	0.1286:0.0704:0.0:0.801	.	52;72	Q9HD33-2;Q9HD33	.;RM47_HUMAN	E	72;52	ENSP00000417602:K72E;ENSP00000259038:K52E	ENSP00000259038:K52E	K	-	1	0	MRPL47	180803164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.213000	0.42844	0.492000	0.27815	0.528000	0.53228	AAA		0.418	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		26	35	0	0	0	1	0	26	35				
BTAF1	9044	broad.mit.edu	37	10	93722417	93722417	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:93722417C>T	ENST00000265990.6	+	12	1694	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	462					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAAGCCTTGTCTATCTTCAGA	0.338																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(1384-1386)gtC>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							50.0	47.0	48.0					10																	93722417		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93722417C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1386C>T	10.37:g.93722417C>T						BTAF1_ENST00000471217.1_3'UTR	p.V462V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			12	1694	+		Colorectal(252;0.0846)	462					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.1386C>T	CCDS7419.1																																																																																				0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		27	41	0	0	0	1	0	27	41				
FANCI	55215	broad.mit.edu	37	15	89801939	89801939	+	Missense_Mutation	SNP	C	C	T	rs199713555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:89801939C>T	ENST00000310775.7	+	3	175	c.89C>T	c.(88-90)aCt>aTt	p.T30I	FANCI_ENST00000300027.8_Missense_Mutation_p.T30I|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.T30I	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	30					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGTTGACTAATCTCCTT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(88-90)aCt>aTt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I		C	ILE/THR,ILE/THR	1,4399	2.1+/-5.4	0,1,2199	201.0	195.0	197.0		89,89	3.1	0.3	15		197	0,8598		0,0,4299	no	missense,missense	FANCI	NM_001113378.1,NM_018193.2	89,89	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	30/1329,30/1269	89801939	1,12997	2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89801939C>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.89C>T	15.37:g.89801939C>T	ENSP00000310842:p.Thr30Ile					FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.T30I|FANCI_ENST00000567996.1_Missense_Mutation_p.T30I	p.T30I	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			3	175	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		30					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.89C>T	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	9.932	1.214976	0.22373	2.27E-4	0.0	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.80214	-1.35;-1.35;-1.35	4.99	3.12	0.35913	.	0.465892	0.18140	N	0.150444	T	0.70081	0.3183	L	0.44542	1.39	0.18873	N	0.999981	B;B	0.15719	0.014;0.003	B;B	0.16722	0.016;0.004	T	0.58983	-0.7539	10	0.42905	T	0.14	0.1008	5.0281	0.14395	0.0:0.536:0.2036:0.2604	.	30;30	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	I	30	ENSP00000300027:T30I;ENSP00000310842:T30I;ENSP00000413249:T30I	ENSP00000300027:T30I	T	+	2	0	FANCI	87602943	0.002000	0.14202	0.270000	0.24601	0.957000	0.61999	0.744000	0.26245	0.700000	0.31782	0.313000	0.20887	ACT		0.388	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		29	60	0	0	0	1	0	29	60				
TMEM63B	55362	broad.mit.edu	37	6	44116566	44116566	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44116566C>T	ENST00000259746.9	+	15	1480	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R433C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	433					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGGTGGCTGCGCTGCCTGGT	0.582																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1297-1299)Cgc>Tgc		transmembrane protein 63B							341.0	247.0	279.0					6																	44116566		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116566C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1297C>T	6.37:g.44116566C>T	ENSP00000259746:p.Arg433Cys					TMEM63B_ENST00000323267.6_Missense_Mutation_p.R433C	p.R433C			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		15	1480	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		433					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1297C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218030	0.58560	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.38722	1.12;1.12	4.48	4.48	0.54585	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	M	0.67397	2.05	0.58432	D	0.999994	B;P	0.52463	0.426;0.953	B;B	0.41236	0.192;0.351	T	0.47071	-0.9145	10	0.87932	D	0	.	16.3354	0.83059	0.0:1.0:0.0:0.0	.	433;433	Q5T3F8;Q5T3F8-2	TM63B_HUMAN;.	C	433	ENSP00000259746:R433C;ENSP00000327154:R433C	ENSP00000259746:R433C	R	+	1	0	TMEM63B	44224544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.319000	0.78375	0.591000	0.81541	CGC		0.582	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		12	34	0	0	0	1	0	12	34				
GRIN3A	116443	broad.mit.edu	37	9	104499708	104499708	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104499708C>G	ENST00000361820.3	-	1	1154	c.554G>C	c.(553-555)tGc>tCc	p.C185S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	185					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACGGTATGGCACACACTTTG	0.597																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(553-555)tGc>tCc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						104.0	96.0	98.0					9																	104499708		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499708C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.554G>C	9.37:g.104499708C>G	ENSP00000355155:p.Cys185Ser						p.C185S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	1154	-		Acute lymphoblastic leukemia(62;0.0568)	185					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.554G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395368	0.83011	.	.	ENSG00000198785	ENST00000361820	D	0.86030	-2.06	5.3	5.3	0.74995	.	0.171573	0.51477	D	0.000083	D	0.91603	0.7347	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92291	0.5841	10	0.87932	D	0	.	18.966	0.92697	0.0:1.0:0.0:0.0	.	185	Q8TCU5	NMD3A_HUMAN	S	185	ENSP00000355155:C185S	ENSP00000355155:C185S	C	-	2	0	GRIN3A	103539529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.328000	0.79160	2.480000	0.83734	0.655000	0.94253	TGC		0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			5	32	0	0	0	1	0	5	32				
RSPH9	221421	broad.mit.edu	37	6	43623320	43623320	+	Missense_Mutation	SNP	C	C	T	rs368519003		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43623320C>T	ENST00000372163.4	+	3	468	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	RSPH9_ENST00000372165.4_Intron	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	139					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGAAGAGACCCGCTTGGTGTC	0.622									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		16020	0.0		0.0	False		,,,				2504	0.0					ENST00000372163.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(415-417)Cgc>Tgc		radial spoke head 9 homolog (Chlamydomonas)		C	,CYS/ARG	0,4406		0,0,2203	115.0	116.0	116.0		,415	5.4	1.0	6		116	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	RSPH9	NM_001193341.1,NM_152732.4	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,139/277	43623320	1,13005	2203	4300	6503	SO:0001583	missense	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43623320C>T	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.415C>T	6.37:g.43623320C>T	ENSP00000361236:p.Arg139Cys					RSPH9_ENST00000372165.4_Intron	p.R139C	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN			3	468	+			139					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.415C>T	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.291826|4.291826	0.80914|0.80914	0.0|0.0	1.16E-4|1.16E-4	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372163;ENST00000372154	.|T	.|0.65178	.|-0.14	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	T|T	0.81123|0.81123	0.4757|0.4757	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.85192|0.85192	0.1010|0.1010	5|9	.|0.72032	.|D	.|0.01	.|.	16.5997|16.5997	0.84810|0.84810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|139	.|Q9H1X1	.|RSPH9_HUMAN	L|C	63|139;107	.|ENSP00000361236:R139C	.|ENSP00000361227:R107C	P|R	+|+	2|1	0|0	RSPH9|RSPH9	43731298|43731298	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.909000|0.909000	0.53808|0.53808	3.969000|3.969000	0.56816|0.56816	2.499000|2.499000	0.84300|0.84300	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.622	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		51	90	0	0	0	1	0	51	90				
HKR1	284459	broad.mit.edu	37	19	37854238	37854238	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:37854238C>T	ENST00000324411.4	+	6	1810	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	HKR1_ENST00000589392.1_Missense_Mutation_p.T496M|HKR1_ENST00000541583.2_Missense_Mutation_p.T453M|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.T495M|HKR1_ENST00000591471.1_Missense_Mutation_p.T241M|HKR1_ENST00000544914.1_Missense_Mutation_p.T241M	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	514					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCCTGAGCACGCACCAGAGG	0.507																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(721-723)aCg>aTg		HKR1, GLI-Kruppel zinc finger family member							76.0	73.0	74.0					19																	37854238		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37854238C>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1541C>T	19.37:g.37854238C>T	ENSP00000315505:p.Thr514Met					HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.T241M|HKR1_ENST00000324411.4_Missense_Mutation_p.T514M|HKR1_ENST00000541583.2_Missense_Mutation_p.T453M|HKR1_ENST00000392153.3_Missense_Mutation_p.T495M|HKR1_ENST00000589392.1_Missense_Mutation_p.T496M	p.T241M			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	2363	+			514					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.722C>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803795	0.31869	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	2.57	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19846	0.0477	N	0.20610	0.595	0.09310	N	0.999999	D;D;P;D	0.89917	0.999;1.0;0.857;0.997	D;P;B;P	0.63703	0.917;0.864;0.146;0.537	T	0.08638	-1.0712	9	0.46703	T	0.11	.	5.2622	0.15580	0.23:0.5453:0.2247:0.0	.	453;495;514;496	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	M	241;293;495;550;514;453	ENSP00000437774:T241M;ENSP00000375994:T495M;ENSP00000315505:T514M;ENSP00000438261:T453M	ENSP00000315505:T514M	T	+	2	0	HKR1	42546078	0.000000	0.05858	0.871000	0.34182	0.830000	0.47004	-4.605000	0.00209	1.751000	0.51876	0.644000	0.83932	ACG		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		14	34	0	0	0	1	0	14	34				
LRRC8B	23507	broad.mit.edu	37	1	90049500	90049500	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90049500G>A	ENST00000330947.2	+	5	1651	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	LRRC8B_ENST00000439853.1_Missense_Mutation_p.G431S|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.G431S	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	431					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TATGCTCAACGGTCTTCCAGA	0.433																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(1291-1293)Ggt>Agt		leucine rich repeat containing 8 family, member B							70.0	72.0	72.0					1																	90049500		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049500G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1291G>A	1.37:g.90049500G>A	ENSP00000332674:p.Gly431Ser					RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.G431S|LRRC8B_ENST00000439853.1_Missense_Mutation_p.G431S	p.G431S	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1651	+		all_lung(203;0.17)	431					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1291G>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298667	0.60195	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.18174	2.23;2.23;2.23	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	N	0.25992	0.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03608	-1.1020	10	0.51188	T	0.08	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	431	Q6P9F7	LRC8B_HUMAN	S	431	ENSP00000332674:G431S;ENSP00000350933:G431S;ENSP00000400704:G431S	ENSP00000332674:G431S	G	+	1	0	LRRC8B	89822088	1.000000	0.71417	0.957000	0.39632	0.306000	0.27790	9.799000	0.99117	2.629000	0.89072	0.655000	0.94253	GGT		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		21	44	0	0	0	1	0	21	44				
CNDP2	55748	broad.mit.edu	37	18	72179721	72179721	+	Silent	SNP	C	C	T	rs201331505		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:72179721C>T	ENST00000324262.4	+	7	1012	c.696C>T	c.(694-696)taC>taT	p.Y232Y	CNDP2_ENST00000324301.8_Silent_p.Y148Y|CNDP2_ENST00000579847.1_Silent_p.Y232Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	232					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.Y232Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGGGGTGTACGGGGGCTCGG	0.542																																						ENST00000324262.4																			1	Substitution - coding silent(1)	p.Y232Y(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(694-696)taC>taT		CNDP dipeptidase 2 (metallopeptidase M20 family)		C	,	0,4406		0,0,2203	212.0	168.0	183.0		444,696	-4.6	0.5	18		183	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CNDP2	NM_001168499.1,NM_018235.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	148/392,232/476	72179721	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72179721C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.696C>T	18.37:g.72179721C>T						CNDP2_ENST00000579847.1_Silent_p.Y232Y|CNDP2_ENST00000324301.8_Silent_p.Y148Y	p.Y232Y	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	7	1012	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	232					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.696C>T	CCDS12006.1																																																																																				0.542	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		23	33	0	0	0	1	0	23	33				
FGD3	89846	broad.mit.edu	37	9	95796900	95796900	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:95796900C>T	ENST00000375482.3	+	17	2359	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	FGD3_ENST00000337352.6_Silent_p.S621S|FGD3_ENST00000416701.2_Silent_p.S620S|FGD3_ENST00000538555.1_Silent_p.S224S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	621	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGACCTGGAGCGAGGTGTGGG	0.672																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1861-1863)agC>agT		FYVE, RhoGEF and PH domain containing 3							38.0	46.0	44.0					9																	95796900		2036	4188	6224	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95796900C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1863C>T	9.37:g.95796900C>T						FGD3_ENST00000337352.6_Silent_p.S621S|FGD3_ENST00000416701.2_Silent_p.S620S|FGD3_ENST00000538555.1_Silent_p.S224S	p.S621S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			17	2359	+			621			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1863C>T	CCDS43849.1																																																																																				0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		12	24	0	0	0	1	0	12	24				
CYP4F3	4051	broad.mit.edu	37	19	15760047	15760047	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15760047C>T	ENST00000221307.8	+	6	650	c.603C>T	c.(601-603)gaC>gaT	p.D201D	CYP4F3_ENST00000586182.2_Silent_p.D201D|CYP4F3_ENST00000591058.1_Silent_p.D201D|CYP4F3_ENST00000585846.1_Silent_p.D201D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	201					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCTTGGACAGTCTGCAGA	0.562																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(601-603)gaC>gaT		cytochrome P450, family 4, subfamily F, polypeptide 3							123.0	107.0	112.0					19																	15760047		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760047C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.603C>T	19.37:g.15760047C>T						CYP4F3_ENST00000585846.1_Silent_p.D201D|CYP4F3_ENST00000591058.1_Silent_p.D201D|CYP4F3_ENST00000586182.1_Silent_p.D201D	p.D201D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			6	651	+			201					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.603C>T	CCDS12332.1																																																																																				0.562	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		33	46	0	0	0	1	0	33	46				
ZNF536	9745	broad.mit.edu	37	19	31039262	31039262	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:31039262G>A	ENST00000355537.3	+	4	2883	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	912					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAACGGTGTGAATTTCCAAG	0.498																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2734-2736)gtG>gtA		zinc finger protein 536							182.0	187.0	185.0					19																	31039262		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039262G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2736G>A	19.37:g.31039262G>A							p.V912V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2883	+	Esophageal squamous(110;0.0834)		912					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2736G>A	CCDS32984.1																																																																																				0.498	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		89	100	0	0	0	1	0	89	100				
RHBDD2	57414	broad.mit.edu	37	7	75511511	75511511	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75511511C>A	ENST00000006777.6	+	2	678	c.543C>A	c.(541-543)acC>acA	p.T181T	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Silent_p.T40T|RHBDD2_ENST00000428119.1_Silent_p.T40T	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	181						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TTCCCCAGACCTCTTTCCTCA	0.587																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(118-120)acC>acA		rhomboid domain containing 2							42.0	43.0	43.0					7																	75511511		2069	4208	6277	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511511C>A	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.543C>A	7.37:g.75511511C>A						RHBDD2_ENST00000006777.6_Silent_p.T181T|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.T40T	p.T40T	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			3	749	+			181					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.120C>A	CCDS43602.1																																																																																				0.587	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		13	22	1	0	5.01169e-05	1	5.15048e-05	13	22				
SNX25	83891	broad.mit.edu	37	4	186188122	186188122	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:186188122G>A	ENST00000504273.1	+	5	706		c.e5-1		SNX25_ENST00000264694.8_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCTTCCTGTAGTCTTGAAGCC	0.398																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.e5-1		sorting nexin 25							62.0	59.0	60.0					4																	186188122		2203	4300	6503	SO:0001630	splice_region_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188122G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.413-1G>A	4.37:g.186188122G>A						SNX25_ENST00000264694.8_Splice_Site				Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	706	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)						Q3ZT30|Q8N6K3	Splice_Site	SNP	ENST00000504273.1	37		CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848525	0.71603	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8256	0.92117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX25	186425116	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.253000	0.95501	2.682000	0.91365	0.591000	0.81541	.		0.398	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	Intron	15	44	0	0	0	1	0	15	44				
TARBP1	6894	broad.mit.edu	37	1	234561461	234561461	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:234561461G>A	ENST00000040877.1	-	20	3401	c.3402C>T	c.(3400-3402)caC>caT	p.H1134H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1134					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TAAACAACTTGTGGGACATAT	0.299																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3400-3402)caC>caT		TAR (HIV-1) RNA binding protein 1							66.0	70.0	69.0					1																	234561461		2201	4296	6497	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234561461G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3402C>T	1.37:g.234561461G>A							p.H1134H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		20	3401	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1134					Q9H581	Silent	SNP	ENST00000040877.1	37	c.3402C>T	CCDS1601.1																																																																																				0.299	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		23	23	0	0	0	1	0	23	23				
ARMC4	55130	broad.mit.edu	37	10	28229592	28229592	+	Missense_Mutation	SNP	C	C	T	rs200127444		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28229592C>T	ENST00000305242.5	-	13	1978	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	ARMC4_ENST00000537576.1_Missense_Mutation_p.R321H|ARMC4_ENST00000545014.1_Missense_Mutation_p.R154H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	629					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R629H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCCAGCTTTGCGGATGGCTTC	0.532																																						ENST00000305242.5																			1	Substitution - Missense(1)	p.R629H(1)	endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(1885-1887)cGc>cAc		armadillo repeat containing 4							119.0	108.0	112.0					10																	28229592		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229592C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1886G>A	10.37:g.28229592C>T	ENSP00000306410:p.Arg629His					ARMC4_ENST00000545014.1_Missense_Mutation_p.R154H|ARMC4_ENST00000537576.1_Missense_Mutation_p.R321H	p.R629H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			13	1978	-			629					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1886G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603979	0.46423	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.70164	-0.46;-0.46;-0.46	5.24	4.3	0.51218	Armadillo-like helical (1);Armadillo-type fold (2);	0.199089	0.53938	D	0.000049	T	0.78729	0.4329	M	0.87456	2.885	0.80722	D	1	P;D	0.62365	0.766;0.991	B;P	0.55667	0.233;0.781	T	0.79060	-0.1958	10	0.17832	T	0.49	-11.5567	15.7932	0.78384	0.0:0.8632:0.1368:0.0	.	154;629	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	H	321;629;154	ENSP00000443208:R321H;ENSP00000306410:R629H;ENSP00000441076:R154H	ENSP00000306410:R629H	R	-	2	0	ARMC4	28269598	1.000000	0.71417	0.606000	0.28943	0.017000	0.09413	5.769000	0.68865	1.273000	0.44346	0.655000	0.94253	CGC		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		19	30	0	0	0	1	0	19	30				
CHD6	84181	broad.mit.edu	37	20	40033327	40033327	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:40033327C>T	ENST00000373233.3	-	37	8231	c.8054G>A	c.(8053-8055)tGt>tAt	p.C2685Y	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2685					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTTCGGCACAGTTCTCATC	0.572																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(8053-8055)tGt>tAt		chromodomain helicase DNA binding protein 6							110.0	118.0	115.0					20																	40033327		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033327C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8054G>A	20.37:g.40033327C>T	ENSP00000362330:p.Cys2685Tyr					CHD6_ENST00000480022.1_5'UTR	p.C2685Y	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	8231	-		Myeloproliferative disorder(115;0.00425)	2685					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8054G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768574	0.49680	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	5.99	5.05	0.67936	.	0.096640	0.46442	N	0.000283	D	0.84320	0.5446	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.80817	-0.1213	10	0.72032	D	0.01	-4.9883	15.1961	0.73088	0.0:0.933:0.0:0.067	.	2685	Q8TD26	CHD6_HUMAN	Y	2685	ENSP00000362330:C2685Y	ENSP00000362330:C2685Y	C	-	2	0	CHD6	39466741	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	3.655000	0.54460	1.548000	0.49413	0.655000	0.94253	TGT		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	54	0	0	0	1	0	24	54				
PRSS12	8492	broad.mit.edu	37	4	119234369	119234369	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:119234369G>A	ENST00000296498.3	-	7	1758	c.1476C>T	c.(1474-1476)caC>caT	p.H492H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	492					exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGAGAGCCTGTGTCCCTCGC	0.532																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1474-1476)caC>caT		protease, serine, 12 (neurotrypsin, motopsin)							63.0	53.0	57.0					4																	119234369		2203	4300	6503	SO:0001819	synonymous_variant	8492					membrane	scavenger receptor activity	g.chr4:119234369G>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1476C>T	4.37:g.119234369G>A							p.H492H	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			7	1758	-			492					Q9UP16	Silent	SNP	ENST00000296498.3	37	c.1476C>T	CCDS3709.1																																																																																				0.532	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			9	11	0	0	0	1	0	9	11				
AKNAD1	254268	broad.mit.edu	37	1	109369845	109369845	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109369845G>A	ENST00000370001.3	-	11	2186	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y	AKNAD1_ENST00000369994.1_Missense_Mutation_p.H610Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H640Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H347Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	640						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAATCTGAGTGTGGTGCCTTT	0.488																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1918-1920)Cac>Tac		AKNA domain containing 1							257.0	258.0	258.0					1																	109369845		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369845G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1918C>T	1.37:g.109369845G>A	ENSP00000359018:p.His640Tyr					AKNAD1_ENST00000369994.1_Missense_Mutation_p.H610Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H640Y|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H347Y	p.H640Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2186	-			640					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1918C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602714	0.13939	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.0	0.0324	0.14175	.	2.284390	0.01766	N	0.030868	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.09377	0.004;0.002	T	0.33803	-0.9854	10	0.54805	T	0.06	2.1679	3.0637	0.06207	0.3971:0.0:0.4131:0.1899	.	347;640	B4DET8;Q5T1N1	.;AKND1_HUMAN	Y	640;347;610;640	ENSP00000359018:H640Y;ENSP00000349968:H347Y;ENSP00000359011:H610Y;ENSP00000359012:H640Y	ENSP00000349968:H347Y	H	-	1	0	AKNAD1	109171368	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.552000	0.06020	0.199000	0.20427	-0.367000	0.07326	CAC		0.488	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		86	157	0	0	0	1	0	86	157				
STX11	8676	broad.mit.edu	37	6	144508226	144508226	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144508226C>T	ENST00000367568.4	+	2	645	c.462C>T	c.(460-462)cgC>cgT	p.R154R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	154					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGAAGCAGCGCGACAACTGCA	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(460-462)cgC>cgT		syntaxin 11							47.0	45.0	45.0					6																	144508226		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508226C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.462C>T	6.37:g.144508226C>T							p.R154R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	645	+			154					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.462C>T	CCDS5205.1																																																																																				0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			7	15	0	0	0	1	0	7	15				
DOCK10	55619	broad.mit.edu	37	2	225796266	225796266	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:225796266T>C	ENST00000258390.7	-	2	310	c.243A>G	c.(241-243)tcA>tcG	p.S81S	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Splice_Site_p.S75S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	81					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GAAGACTTACTGAAAAGTCAT	0.458																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.e2+1		dedicator of cytokinesis 10							74.0	74.0	74.0					2																	225796266		1867	4110	5977	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225796266T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.243+1A>G	2.37:g.225796266T>C						DOCK10_ENST00000258390.7_Splice_Site_p.S81_splice|DOCK10_ENST00000474102.1_5'UTR	p.S75_splice			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	2	338	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	81					B3FL70|O75178|Q9NW06|Q9NXI8	Splice_Site	SNP	ENST00000258390.7	37	c.225_splice	CCDS46528.1																																																																																				0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Silent	9	11	0	0	0	1	0	9	11				
ATP8B1	5205	broad.mit.edu	37	18	55329795	55329795	+	Missense_Mutation	SNP	C	C	T	rs536502512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:55329795C>T	ENST00000283684.4	-	20	2337	c.2338G>A	c.(2338-2340)Gca>Aca	p.A780T	ATP8B1_ENST00000536015.1_Missense_Mutation_p.A780T|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	780					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCAAACTTTGCGTAGACGCCA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		16531	0.0		0.0	False		,,,				2504	0.001					ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(2338-2340)Gca>Aca		ATPase, aminophospholipid transporter, class I, type 8B, member 1							95.0	90.0	92.0					18																	55329795		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55329795C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2338G>A	18.37:g.55329795C>T	ENSP00000283684:p.Ala780Thr					RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A780T|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.A780T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			21	2457	-		Colorectal(73;0.229)	780					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.2338G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	4.792	0.147256	0.09134	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.30448	1.53;1.53	5.57	4.69	0.59074	HAD-like domain (2);	0.551444	0.19299	N	0.117696	T	0.13586	0.0329	N	0.04636	-0.2	0.36201	D	0.850758	B	0.09022	0.002	B	0.08055	0.003	T	0.15954	-1.0419	10	0.14252	T	0.57	.	10.0962	0.42478	0.1389:0.7882:0.0:0.0729	.	780	O43520	AT8B1_HUMAN	T	780	ENSP00000283684:A780T;ENSP00000445359:A780T	ENSP00000283684:A780T	A	-	1	0	ATP8B1	53480793	0.717000	0.27966	0.996000	0.52242	0.093000	0.18481	0.334000	0.19787	1.332000	0.45431	0.313000	0.20887	GCA		0.438	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		7	72	0	0	0	1	0	7	72				
ADAD2	161931	broad.mit.edu	37	16	84228124	84228124	+	Silent	SNP	G	G	A	rs143343092		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84228124G>A	ENST00000315906.5	+	2	547	c.495G>A	c.(493-495)acG>acA	p.T165T	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Silent_p.T237T	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	165	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ATAGCAAGACGGAGGCCAAAC	0.642													A|||	1	0.000199681	0.0	0.0	5008	,	,		18551	0.001		0.0	False		,,,				2504	0.0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(709-711)acG>acA		adenosine deaminase domain containing 2		A	,	0,4400		0,0,2200	41.0	39.0	40.0		495,711	-8.3	0.0	16	dbSNP_134	40	1,8597	813.1+/-407.0	0,1,4298	no	coding-synonymous,coding-synonymous	ADAD2	NM_001145400.1,NM_139174.3	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	165/584,237/666	84228124	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228124G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.495G>A	16.37:g.84228124G>A						ADAD2_ENST00000315906.5_Silent_p.T165T|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	p.T237T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			3	804	+			165					B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.711G>A	CCDS45536.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.114	-1.134787	0.01742	0.0	1.16E-4	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	.	.	.	.	T	0.45216	0.1331	.	.	.	0.34563	D	0.712613	B	0.06786	0.001	B	0.04013	0.001	T	0.13469	-1.0508	7	0.87932	D	0	3.8965	13.9566	0.64152	0.143:0.1065:0.7504:0.0	.	80	Q6ZW55	.	L	66	.	ENSP00000444170:P66L	P	-	2	0	AC009123.1	82785625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.981000	0.00320	-2.574000	0.00466	-1.988000	0.00451	CCG		0.642	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		3	19	0	0	0	1	0	3	19				
AAR2	25980	broad.mit.edu	37	20	34843606	34843606	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34843606C>T	ENST00000373932.3	+	4	1440	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	AAR2_ENST00000320849.4_Missense_Mutation_p.A365V|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	365																	GACTTTGCTGCGGAACCTGAG	0.602																																						ENST00000373932.3																			0											c.(1093-1095)gCg>gTg		AAR2 splicing factor homolog (S. cerevisiae)							84.0	88.0	87.0					20																	34843606		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34843606C>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1094C>T	20.37:g.34843606C>T	ENSP00000363043:p.Ala365Val					AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.A365V	p.A365V	NM_015511.3	NP_056326.2					4	1440	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.1094C>T	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858368	0.32791	.	.	ENSG00000131043	ENST00000320849;ENST00000373932	T;T	0.44881	0.91;0.91	6.17	4.15	0.48705	.	.	.	.	.	T	0.26557	0.0649	N	0.20685	0.6	0.34630	D	0.719512	B	0.12013	0.005	B	0.12156	0.007	T	0.26189	-1.0110	9	0.33940	T	0.23	.	8.466	0.32956	0.2581:0.6712:0.0:0.0707	.	365	Q9Y312	CT004_HUMAN	V	365	ENSP00000313674:A365V;ENSP00000363043:A365V	ENSP00000313674:A365V	A	+	2	0	C20orf4	34307020	0.996000	0.38824	0.075000	0.20258	0.669000	0.39330	3.572000	0.53849	1.630000	0.50440	0.655000	0.94253	GCG		0.602	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		12	63	0	0	0	1	0	12	63				
C16orf89	146556	broad.mit.edu	37	16	5097896	5097896	+	Missense_Mutation	SNP	C	C	T	rs532111292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:5097896C>T	ENST00000315997.5	-	7	1139	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C16orf89_ENST00000474471.3_Missense_Mutation_p.R345Q|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.R351Q|C16orf89_ENST00000350219.4_Missense_Mutation_p.R351Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R313Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	313						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TTGTTTTTCTCGCCTCTTCAC	0.378																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(937-939)cGa>cAa		chromosome 16 open reading frame 89							83.0	73.0	76.0					16																	5097896		1812	4067	5879	SO:0001583	missense	146556					extracellular region		g.chr16:5097896C>T		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.938G>A	16.37:g.5097896C>T	ENSP00000324672:p.Arg313Gln					C16orf89_ENST00000422873.1_Missense_Mutation_p.R351Q|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.R351Q|C16orf89_ENST00000474471.3_Missense_Mutation_p.R345Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.R313Q	p.R313Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			7	1139	-			313					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.938G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664389	0.67700	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.81	2.83	0.33086	.	0.077097	0.49916	N	0.000122	T	0.49712	0.1573	M	0.77103	2.36	0.31195	N	0.700514	D;D	0.63046	0.992;0.99	B;P	0.46718	0.44;0.525	T	0.56565	-0.7958	10	0.30854	T	0.27	-12.0451	8.7638	0.34692	0.0:0.8187:0.0:0.1813	.	313;351	Q6UX73;G3V0F0	CP089_HUMAN;.	Q	345;313;313;351;351;345	ENSP00000417158:R345Q;ENSP00000420566:R313Q;ENSP00000390402:R351Q;ENSP00000283478:R351Q	ENSP00000324672:R345Q	R	-	2	0	C16orf89	5037897	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	0.960000	0.29253	0.537000	0.28751	0.561000	0.74099	CGA		0.378	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		24	55	0	0	0	1	0	24	55				
UPF1	5976	broad.mit.edu	37	19	18976954	18976954	+	Silent	SNP	G	G	A	rs561916655		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18976954G>A	ENST00000599848.1	+	23	3581	c.3372G>A	c.(3370-3372)acG>acA	p.T1124T	UPF1_ENST00000262803.5_Silent_p.T1113T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1124	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCGGGGTGACGGGGCTGTCCC	0.617													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16396	0.0		0.0	False		,,,				2504	0.0					ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3337-3339)acG>acA		UPF1 regulator of nonsense transcripts homolog (yeast)							35.0	31.0	32.0					19																	18976954		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976954G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3372G>A	19.37:g.18976954G>A						UPF1_ENST00000599848.1_Silent_p.T1124T	p.T1113T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			23	3611	+			1124			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.3339G>A																																																																																					0.617	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		8	32	0	0	0	1	0	8	32				
PNISR	25957	broad.mit.edu	37	6	99849499	99849499	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:99849499C>T	ENST00000369239.5	-	12	1539	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	PNISR_ENST00000438806.1_Silent_p.K445K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	445						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGTTTGCTGCTTTTCTTCTG	0.338																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1333-1335)aaG>aaA		PNN-interacting serine/arginine-rich protein							47.0	48.0	47.0					6																	99849499		2203	4300	6503	SO:0001819	synonymous_variant	25957					nuclear speck		g.chr6:99849499C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1335G>A	6.37:g.99849499C>T						PNISR_ENST00000438806.1_Silent_p.K445K	p.K445K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			12	1539	-			445					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	c.1335G>A	CCDS5043.1																																																																																				0.338	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		8	26	0	0	0	1	0	8	26				
GPR98	84059	broad.mit.edu	37	5	90144541	90144541	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:90144541C>T	ENST00000405460.2	+	79	17203	c.17107C>T	c.(17107-17109)Cgc>Tgc	p.R5703C	GPR98_ENST00000425867.2_Missense_Mutation_p.R1364C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5703					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACCCAAAGCGCAAGGACAC	0.403																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17107-17109)Cgc>Tgc		G protein-coupled receptor 98							79.0	73.0	75.0					5																	90144541		1821	4082	5903	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90144541C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17107C>T	5.37:g.90144541C>T	ENSP00000384582:p.Arg5703Cys					GPR98_ENST00000425867.2_Missense_Mutation_p.R1364C	p.R5703C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	79	17203	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5703					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17107C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821345	0.90873	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.42900	0.96;1.14	5.95	5.95	0.96441	.	0.047114	0.85682	D	0.000000	T	0.63402	0.2508	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.988	P;D;P	0.63957	0.709;0.92;0.848	T	0.58808	-0.7571	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1364;5703;1364	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5703;5703;1364	ENSP00000384582:R5703C;ENSP00000392618:R1364C	.	R	+	1	0	GPR98	90180297	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.476000	0.66793	2.824000	0.97209	0.655000	0.94253	CGC		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	13	0	0	0	1	0	13	13				
MBD3	53615	broad.mit.edu	37	19	1584643	1584643	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1584643G>A	ENST00000434436.3	-	3	433	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Missense_Mutation_p.R46C|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.R70C|MBD3_ENST00000156825.1_Missense_Mutation_p.R102C|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	102					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTCTGGCGCACGGGCAGC	0.697																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(136-138)Cgc>Tgc		methyl-CpG binding domain protein 3							80.0	67.0	71.0					19																	1584643		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1584643G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.304C>T	19.37:g.1584643G>A	ENSP00000412302:p.Arg102Cys					MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.R102C|MBD3_ENST00000592012.1_Missense_Mutation_p.R70C|MBD3_ENST00000434436.3_Missense_Mutation_p.R102C	p.R46C			O95983	MBD3_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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	2	509	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	102			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.136C>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813899	0.70912	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99656	-6.31	4.89	2.55	0.30701	.	0.053604	0.64402	D	0.000001	D	0.99573	0.9846	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.917;0.985	D	0.98583	1.0651	10	0.87932	D	0	-40.4741	11.2914	0.49252	0.0:0.0:0.3883:0.6117	.	70;102	O95983-2;O95983	.;MBD3_HUMAN	C	70;102	ENSP00000156825:R102C	ENSP00000156825:R102C	R	-	1	0	MBD3	1535643	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	0.931000	0.28871	0.916000	0.36871	0.462000	0.41574	CGC		0.697	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		10	20	0	0	0	1	0	10	20				
SMG7	9887	broad.mit.edu	37	1	183510217	183510217	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183510217G>T	ENST00000347615.2	+	13	1513	c.1394G>T	c.(1393-1395)tGg>tTg	p.W465L	SMG7_ENST00000508461.1_Missense_Mutation_p.W423L|SMG7_ENST00000367537.3_Missense_Mutation_p.W494L|SMG7_ENST00000507469.1_Missense_Mutation_p.W465L|SMG7_ENST00000515829.2_Missense_Mutation_p.W465L|SMG7_ENST00000456731.2_Missense_Mutation_p.W423L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	465					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATAGGCAAATGGATTGCTGAT	0.473																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1480-1482)tGg>tTg		SMG7 nonsense mediated mRNA decay factor							184.0	173.0	176.0					1																	183510217		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183510217G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1394G>T	1.37:g.183510217G>T	ENSP00000340766:p.Trp465Leu					SMG7_ENST00000347615.2_Missense_Mutation_p.W465L|SMG7_ENST00000515829.2_Missense_Mutation_p.W465L|SMG7_ENST00000507469.1_Missense_Mutation_p.W465L|SMG7_ENST00000508461.1_Missense_Mutation_p.W423L|SMG7_ENST00000456731.2_Missense_Mutation_p.W423L	p.W494L			Q92540	SMG7_HUMAN			14	1676	+			465					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1481G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765108	0.90020	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.57	5.57	0.84162	.	0.235349	0.47093	D	0.000249	T	0.23171	0.0560	N	0.24115	0.695	0.80722	D	1	P;P;P;D;P;P	0.56035	0.956;0.956;0.956;0.974;0.956;0.956	P;P;P;P;P;P	0.56788	0.644;0.644;0.644;0.806;0.644;0.644	T	0.02797	-1.1109	10	0.11794	T	0.64	-4.1352	19.563	0.95380	0.0:0.0:1.0:0.0	.	423;494;423;465;465;465	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	423;494;423;423;465;465;465	ENSP00000407629:W423L;ENSP00000356507:W494L;ENSP00000426915:W423L;ENSP00000388390:W423L;ENSP00000340766:W465L;ENSP00000425133:W465L;ENSP00000421358:W465L	ENSP00000340766:W465L	W	+	2	0	SMG7	181776840	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.977000	0.76141	2.619000	0.88677	0.650000	0.86243	TGG		0.473	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		66	81	1	0	1.77791e-30	1	1.99291e-30	66	81				
EGF	1950	broad.mit.edu	37	4	110902097	110902097	+	Silent	SNP	G	G	A	rs368323208		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110902097G>A	ENST00000265171.5	+	15	2782	c.2337G>A	c.(2335-2337)acG>acA	p.T779T	EGF_ENST00000509793.1_Silent_p.T737T|EGF_ENST00000503392.1_Silent_p.T779T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	779	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGGGAAAACGTGTCTGGCTC	0.413																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2335-2337)acG>acA		epidermal growth factor	Sulindac(DB00605)	G	,,	0,4406		0,0,2203	211.0	204.0	207.0		2337,2211,2337	1.1	0.0	4		207	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	779/1167,737/1166,779/1208	110902097	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110902097G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2337G>A	4.37:g.110902097G>A						EGF_ENST00000503392.1_Silent_p.T779T|EGF_ENST00000509793.1_Silent_p.T737T	p.T779T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	15	2782	+		Hepatocellular(203;0.0893)	779			EGF-like 5.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2337G>A	CCDS3689.1																																																																																				0.413	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			77	97	0	0	0	1	0	77	97				
ZNF572	137209	broad.mit.edu	37	8	125988686	125988686	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:125988686G>T	ENST00000319286.5	+	3	330	c.176G>T	c.(175-177)aGa>aTa	p.R59I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R59T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAAGACATAGACCACAACAT	0.373										HNSCC(60;0.17)																												ENST00000319286.5																			1	Substitution - Missense(1)	p.R59T(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(175-177)aGa>aTa		zinc finger protein 572							78.0	77.0	77.0					8																	125988686		2203	4300	6503	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988686G>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.176G>T	8.37:g.125988686G>T	ENSP00000319305:p.Arg59Ile	HNSCC(60;0.17)					p.R59I	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	330	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		59					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.176G>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	3.080	-0.189245	0.06299	.	.	ENSG00000180938	ENST00000319286	T	0.07688	3.17	4.73	2.84	0.33178	.	0.655352	0.12756	N	0.441764	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.36768	-0.9734	10	0.26408	T	0.33	-0.0366	7.2469	0.26127	0.0934:0.0:0.7343:0.1723	.	59	Q7Z3I7	ZN572_HUMAN	I	59	ENSP00000319305:R59I	ENSP00000319305:R59I	R	+	2	0	ZNF572	126057867	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-0.599000	0.05700	2.467000	0.83353	0.561000	0.74099	AGA		0.373	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		21	35	1	0	4.54149e-19	1	5.02196e-19	21	35				
PMPCA	23203	broad.mit.edu	37	9	139311571	139311571	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139311571C>T	ENST00000371717.3	+	7	811	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R137W	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	268					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGACTGTGCCCGGAAGTACCT	0.637																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(802-804)Cgg>Tgg		peptidase (mitochondrial processing) alpha							40.0	35.0	37.0					9																	139311571		2203	4299	6502	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311571C>T	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.802C>T	9.37:g.139311571C>T	ENSP00000360782:p.Arg268Trp					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R137W	p.R268W	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	811	+		Myeloproliferative disorder(178;0.0821)	268					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.802C>T	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152615	0.57259	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.32023	3.08;1.47	5.81	0.797	0.18654	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.537268	0.20826	N	0.084972	T	0.43233	0.1238	M	0.64404	1.975	0.35856	D	0.827136	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.58970	0.849;0.773;0.773	T	0.52403	-0.8580	10	0.87932	D	0	.	9.671	0.40013	0.4937:0.4378:0.0685:0.0	.	137;268;268	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	W	268;137	ENSP00000360782:R268W;ENSP00000416702:R137W	ENSP00000360782:R268W	R	+	1	2	PMPCA	138431392	0.226000	0.23696	0.054000	0.19295	0.324000	0.28378	0.949000	0.29109	-0.068000	0.12953	-0.347000	0.07816	CGG		0.637	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		9	14	0	0	0	1	0	9	14				
NIPBL	25836	broad.mit.edu	37	5	37059130	37059130	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:37059130A>T	ENST00000282516.8	+	44	8047	c.7548A>T	c.(7546-7548)gaA>gaT	p.E2516D	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2516D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2516					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			cagattcagaAGACGATATAA	0.383																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7546-7548)gaA>gaT		Nipped-B homolog (Drosophila)							119.0	122.0	121.0					5																	37059130		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059130A>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7548A>T	5.37:g.37059130A>T	ENSP00000282516:p.Glu2516Asp					NIPBL_ENST00000448238.2_Missense_Mutation_p.E2516D	p.E2516D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8047	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2516					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7548A>T	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.70|11.70	1.715680|1.715680	0.30413|0.30413	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819|ENST00000507919	D;D;T|.	0.93712|.	-3.27;-3.27;-1.36|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.110101|.	0.64402|.	D|.	0.000011|.	T|T	0.32971|0.32971	0.0847|0.0847	N|N	0.04203|0.04203	-0.255|-0.255	0.38418|0.38418	D|D	0.946104|0.946104	B;B;B|.	0.16603|.	0.001;0.01;0.018|.	B;B;B|.	0.15484|.	0.001;0.003;0.013|.	T|T	0.37888|0.37888	-0.9686|-0.9686	10|5	0.19590|.	T|.	0.45|.	-18.1267|-18.1267	11.2904|11.2904	0.49247|0.49247	0.9295:0.0:0.0705:0.0|0.9295:0.0:0.0705:0.0	.|.	2516;2516;2516|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	D|M	2516;2516;42|22	ENSP00000282516:E2516D;ENSP00000406266:E2516D;ENSP00000421504:E42D|.	ENSP00000282516:E2516D|.	E|K	+|+	3|2	2|0	NIPBL|NIPBL	37094887|37094887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.124000|2.124000	0.42006|0.42006	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		18	24	0	0	0	1	0	18	24				
USP54	159195	broad.mit.edu	37	10	75277322	75277322	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:75277322C>T	ENST00000339859.4	-	19	2962	c.2862G>A	c.(2860-2862)aaG>aaA	p.K954K	USP54_ENST00000394811.2_Silent_p.K42K|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.K804K|USP54_ENST00000408019.1_Silent_p.K954K|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.K136K			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	954					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGTCAGAAGCTTCAAGGCAG	0.488																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2860-2862)aaG>aaA		ubiquitin specific peptidase 54							92.0	81.0	84.0					10																	75277322		2203	4300	6503	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277322C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2862G>A	10.37:g.75277322C>T						USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Silent_p.K954K|USP54_ENST00000422491.2_Silent_p.K136K|USP54_ENST00000428547.1_Silent_p.K804K|USP54_ENST00000394811.2_Silent_p.K42K	p.K954K			Q70EL1	UBP54_HUMAN			19	2962	-	Prostate(51;0.0112)		954					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.2862G>A	CCDS7329.2																																																																																				0.488	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		12	22	0	0	0	1	0	12	22				
ZNF833P	401898	broad.mit.edu	37	19	11793385	11793385	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11793385G>A	ENST00000344893.3	+	0	1587					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGAGGATGTGGCTGTGAACTT	0.488																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5																																														0							g.chr19:11793385G>A	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11793385G>A								NR_028594.1						0	1587	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.488	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		28	48	0	0	0	1	0	28	48				
ZDHHC1	29800	broad.mit.edu	37	16	67429019	67429019	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67429019C>T	ENST00000348579.2	-	10	1457	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	ZDHHC1_ENST00000566075.1_Intron|TPPP3_ENST00000562206.1_5'Flank|TPPP3_ENST00000393957.2_5'Flank|TPPP3_ENST00000290942.5_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	372					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GAAGCAGAGGCGAGCGCCAGG	0.622																																						ENST00000348579.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10						c.(1114-1116)tcG>tcA		zinc finger, DHHC-type containing 1							22.0	25.0	24.0					16																	67429019		2197	4300	6497	SO:0001819	synonymous_variant	29800					integral to membrane	DNA binding|zinc ion binding	g.chr16:67429019C>T	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1116G>A	16.37:g.67429019C>T						ZDHHC1_ENST00000566075.1_Intron	p.S372S	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)	10	1457	-		Ovarian(137;0.223)	372					O15461	Silent	SNP	ENST00000348579.2	37	c.1116G>A	CCDS10836.1																																																																																				0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304		4	6	0	0	0	1	0	4	6				
ST6GALNAC2	10610	broad.mit.edu	37	17	74570475	74570475	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74570475C>T	ENST00000225276.5	-	3	652	c.333G>A	c.(331-333)ccG>ccA	p.P111P	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	111					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GCCAGCCATACGGGGCTTTGT	0.627																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(331-333)ccG>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							36.0	34.0	34.0					17																	74570475		2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74570475C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.333G>A	17.37:g.74570475C>T						ST6GALNAC2_ENST00000586520.1_5'UTR	p.P111P	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			3	652	-			111					Q12971	Silent	SNP	ENST00000225276.5	37	c.333G>A	CCDS11747.1																																																																																				0.627	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		5	10	0	0	0	1	0	5	10				
TSG101	7251	broad.mit.edu	37	11	18503234	18503234	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18503234G>T	ENST00000251968.3	-	9	1441	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	TSG101_ENST00000536719.1_Silent_p.I342I|TSG101_ENST00000357193.3_Silent_p.I237I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	342	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CCAAGTAAAAGATAGTGTCTT	0.393																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1024-1026)atC>atA		tumor susceptibility 101							137.0	128.0	131.0					11																	18503234		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503234G>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1026C>A	11.37:g.18503234G>T						TSG101_ENST00000251968.3_Silent_p.I342I|TSG101_ENST00000357193.3_Silent_p.I237I	p.I342I			Q99816	TS101_HUMAN			9	1160	-			342			SB.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.1026C>A	CCDS7842.1																																																																																				0.393	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		40	56	1	0	4.14481e-20	1	4.59174e-20	40	56				
GDPD3	79153	broad.mit.edu	37	16	30116256	30116256	+	Silent	SNP	C	C	T	rs199816623		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30116256C>T	ENST00000406256.3	-	10	1271	c.894G>A	c.(892-894)acG>acA	p.T298T	RP11-455F5.4_ENST00000566190.1_RNA|RP11-455F5.3_ENST00000515455.2_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	298	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TGGGATAATCCGTTATGACGC	0.572																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(892-894)acG>acA		glycerophosphodiester phosphodiesterase domain containing 3							79.0	73.0	75.0					16																	30116256		2197	4300	6497	SO:0001819	synonymous_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30116256C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.894G>A	16.37:g.30116256C>T							p.T298T	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			10	1271	-			298			GDPD.		Q9H652	Silent	SNP	ENST00000406256.3	37	c.894G>A	CCDS10671.2																																																																																				0.572	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		6	10	0	0	0	1	0	6	10				
NOS3	4846	broad.mit.edu	37	7	150704235	150704235	+	Silent	SNP	C	C	T	rs370017827		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150704235C>T	ENST00000297494.3	+	17	2340	c.1983C>T	c.(1981-1983)tgC>tgT	p.C661C	NOS3_ENST00000461406.1_Silent_p.C455C	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCACTTCTGCGCCTTTGCTC	0.692																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1981-1983)tgC>tgT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C		1,4405	2.1+/-5.4	0,1,2202	94.0	97.0	96.0		1983	-4.5	1.0	7		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOS3	NM_000603.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		661/1204	150704235	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704235C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1983C>T	7.37:g.150704235C>T						NOS3_ENST00000461406.1_Silent_p.C455C	p.C661C	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2340	+	all_neural(206;0.219)		661			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000297494.3	37	c.1983C>T	CCDS5912.1																																																																																				0.692	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		45	76	0	0	0	1	0	45	76				
DAAM1	23002	broad.mit.edu	37	14	59821889	59821889	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:59821889G>A	ENST00000395125.1	+	20	2416	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Missense_Mutation_p.R798H|DAAM1_ENST00000360909.3_Missense_Mutation_p.R788H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	798	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGCAATTCGTTCTGGCTCA	0.378																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2392-2394)cGt>cAt		dishevelled associated activator of morphogenesis 1							182.0	170.0	174.0					14																	59821889		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59821889G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2393G>A	14.37:g.59821889G>A	ENSP00000378557:p.Arg798His					DAAM1_ENST00000360909.3_Missense_Mutation_p.R788H|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000351081.1_Missense_Mutation_p.R798H	p.R798H	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2416	+			798			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2393G>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209648	0.79240	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.17528	2.27;2.27;2.27	5.81	5.81	0.92471	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.192319	0.56097	D	0.000032	T	0.20495	0.0493	L	0.52126	1.63	0.80722	D	1	P;P	0.38195	0.622;0.498	B;B	0.34824	0.135;0.19	T	0.00928	-1.1511	10	0.41790	T	0.15	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	788;798	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	H	788;798;798	ENSP00000354162:R788H;ENSP00000247170:R798H;ENSP00000378557:R798H	ENSP00000247170:R798H	R	+	2	0	DAAM1	58891642	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.659000	0.54489	2.906000	0.99361	0.655000	0.94253	CGT		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		45	49	0	0	0	1	0	45	49				
SCARB2	950	broad.mit.edu	37	4	77091034	77091034	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:77091034C>T	ENST00000264896.2	-	8	1448	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	SCARB2_ENST00000452464.2_Missense_Mutation_p.V224M	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	367					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TTAATGTCCACAAATGTCTCA	0.403																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1099-1101)Gtg>Atg		scavenger receptor class B, member 2							158.0	149.0	152.0					4																	77091034		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091034C>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1099G>A	4.37:g.77091034C>T	ENSP00000264896:p.Val367Met					SCARB2_ENST00000452464.2_Missense_Mutation_p.V224M	p.V367M	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1448	-			367					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1099G>A	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154722	0.38021	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73152	-0.72;-0.72	4.87	3.01	0.34805	.	0.337429	0.32533	N	0.005978	T	0.63343	0.2503	L	0.43554	1.36	0.43426	D	0.995587	B;B	0.30526	0.283;0.04	B;B	0.40256	0.324;0.063	T	0.58244	-0.7670	10	0.27785	T	0.31	.	7.8543	0.29472	0.1479:0.4846:0.3674:0.0	.	224;367	E7EM68;Q14108	.;SCRB2_HUMAN	M	367;224	ENSP00000264896:V367M;ENSP00000399154:V224M	ENSP00000264896:V367M	V	-	1	0	SCARB2	77310058	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.178000	0.31981	2.406000	0.81754	0.460000	0.39030	GTG		0.403	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		31	60	0	0	0	1	0	31	60				
USP32	84669	broad.mit.edu	37	17	58286900	58286900	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58286900G>A	ENST00000300896.4	-	22	2623	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I	USP32_ENST00000592339.1_Missense_Mutation_p.T480I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	810	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTGCTATGGTCCACTATAA	0.368																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(2428-2430)aCc>aTc		ubiquitin specific peptidase 32							66.0	66.0	66.0					17																	58286900		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58286900G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2429C>T	17.37:g.58286900G>A	ENSP00000300896:p.Thr810Ile					USP32_ENST00000592339.1_Missense_Mutation_p.T480I	p.T810I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		22	2623	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		810					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2429C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653052	0.88056	.	.	ENSG00000170832	ENST00000300896	T	0.30981	1.51	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.31371	0.925	0.80722	D	1	P	0.36495	0.556	P	0.51833	0.681	T	0.08027	-1.0742	10	0.22109	T	0.4	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	810	Q8NFA0	UBP32_HUMAN	I	810	ENSP00000300896:T810I	ENSP00000300896:T810I	T	-	2	0	USP32	55641682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.501000	0.97979	2.422000	0.82143	0.655000	0.94253	ACC		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		45	55	0	0	0	1	0	45	55				
GNB3	2784	broad.mit.edu	37	12	6948188	6948188	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6948188C>T	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|GNB3_ENST00000435982.2_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCGCTGTGGGCGCCTTGTGGC	0.662																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							35.0	40.0	39.0					12																	6948188		2068	4190	6258	SO:0001631	upstream_gene_variant	10536							g.chr12:6948188C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948188C>T	Exception_encountered					LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA		NM_014262.3	NP_055077.2					0	1963	+								Q96B71|Q9BQC0	RNA	SNP	ENST00000229264.3	37		CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929817	0.73327	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	T;T	0.63417	-0.04;-0.04	4.99	4.07	0.47477	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.111999	0.64402	D	0.000007	T	0.76842	0.4044	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78237	-0.2282	9	0.87932	D	0	-4.2322	9.8149	0.40846	0.1987:0.675:0.1264:0.0	.	644	Q8IVL6	P3H3_HUMAN	C	71;643;459	ENSP00000379951:R643C;ENSP00000290510:R459C	ENSP00000290510:R459C	R	+	1	0	LEPREL2	6818449	1.000000	0.71417	0.967000	0.41034	0.748000	0.42578	4.711000	0.61881	1.049000	0.40321	0.561000	0.74099	CGC		0.662	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		6	26	0	0	0	1	0	6	26				
FGFRL1	53834	broad.mit.edu	37	4	1018244	1018244	+	Silent	SNP	C	C	T	rs138109269		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1018244C>T	ENST00000398484.2	+	7	1444	c.864C>T	c.(862-864)gcC>gcT	p.A288A	FGFRL1_ENST00000510644.1_Silent_p.A288A|FGFRL1_ENST00000264748.6_Silent_p.A288A|FGFRL1_ENST00000504138.1_Silent_p.A288A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	288	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTACGGCGCCGAGGGCCGCC	0.657																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(862-864)gcC>gcT		fibroblast growth factor receptor-like 1			,,	2,4398		0,2,2198	37.0	38.0	37.0		864,864,864	-3.5	0.4	4	dbSNP_134	37	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	,,	0,3,6495	TT,TC,CC		0.0116,0.0455,0.0231	,,	288/505,288/505,288/505	1018244	3,12993	2200	4298	6498	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018244C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.864C>T	4.37:g.1018244C>T						FGFRL1_ENST00000510644.1_Silent_p.A288A|FGFRL1_ENST00000504138.1_Silent_p.A288A|FGFRL1_ENST00000264748.6_Silent_p.A288A	p.A288A			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1444	+			288			Ig-like C2-type 3.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.864C>T	CCDS3344.1																																																																																				0.657	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		16	19	0	0	0	1	0	16	19				
LAMC3	10319	broad.mit.edu	37	9	133911650	133911650	+	Missense_Mutation	SNP	C	C	T	rs376297941		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:133911650C>T	ENST00000361069.4	+	4	1040	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	303	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGACTGTGAGCGCTGCCTGCC	0.692																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(907-909)Cgc>Tgc		laminin, gamma 3		C	CYS/ARG	0,4400		0,0,2200	28.0	32.0	31.0		907	3.0	1.0	9		31	1,8595		0,1,4297	no	missense	LAMC3	NM_006059.3	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	303/1576	133911650	1,12995	2200	4298	6498	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133911650C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.907C>T	9.37:g.133911650C>T	ENSP00000354360:p.Arg303Cys					LAMC3_ENST00000480883.1_3'UTR	p.R303C	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	4	1040	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	303			Laminin EGF-like 1.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.907C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502955	0.26949	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.64991	-0.13	5.06	2.99	0.34606	EGF-like, laminin (4);	0.474905	0.21551	N	0.072731	T	0.69833	0.3155	H	0.94264	3.515	0.42742	D	0.993745	B	0.33022	0.394	B	0.33690	0.168	T	0.74598	-0.3612	10	0.72032	D	0.01	.	9.1215	0.36791	0.2261:0.6927:0.0:0.0812	.	303	Q9Y6N6	LAMC3_HUMAN	C	303	ENSP00000354360:R303C	ENSP00000325873:R303C	R	+	1	0	LAMC3	132901471	0.000000	0.05858	1.000000	0.80357	0.328000	0.28507	-0.419000	0.07071	1.127000	0.42034	-0.362000	0.07510	CGC		0.692	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		29	29	0	0	0	1	0	29	29				
SLC25A12	8604	broad.mit.edu	37	2	172671677	172671677	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:172671677C>A	ENST00000422440.2	-	10	1003	c.966G>T	c.(964-966)caG>caT	p.Q322H	SLC25A12_ENST00000392592.4_Missense_Mutation_p.Q215H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	322					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTCGGCAATCTGGAGCCAGA	0.458																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(964-966)caG>caT		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						77.0	74.0	75.0					2																	172671677		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172671677C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.966G>T	2.37:g.172671677C>A	ENSP00000388658:p.Gln322His					SLC25A12_ENST00000392592.4_Missense_Mutation_p.Q215H	p.Q322H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		10	1003	-			322					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.966G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	c	17.41	3.381923	0.61845	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79845	-1.31;-1.28	5.47	4.59	0.56863	Mitochondrial carrier domain (1);	0.112377	0.64402	D	0.000006	D	0.82462	0.5042	M	0.85542	2.76	0.58432	D	0.999996	B;B	0.28552	0.215;0.086	B;B	0.28553	0.091;0.091	T	0.81756	-0.0787	10	0.52906	T	0.07	1.0886	14.4134	0.67132	0.0:0.9282:0.0:0.0718	.	215;322	B3KR64;O75746	.;CMC1_HUMAN	H	322;215	ENSP00000388658:Q322H;ENSP00000376371:Q215H	ENSP00000376371:Q215H	Q	-	3	2	SLC25A12	172379923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.967000	0.49216	1.285000	0.44548	0.591000	0.81541	CAG		0.458	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		28	44	1	0	9.65021e-13	1	1.04556e-12	28	44				
CHST13	166012	broad.mit.edu	37	3	126260941	126260941	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:126260941G>A	ENST00000319340.2	+	3	596	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	182					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCCTGGCATCGGCTTACCGCA	0.711																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(544-546)tcG>tcA		carbohydrate (chondroitin 4) sulfotransferase 13							9.0	11.0	10.0					3																	126260941		2134	4175	6309	SO:0001819	synonymous_variant	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260941G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.546G>A	3.37:g.126260941G>A							p.S182S	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	596	+			182					Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	c.546G>A	CCDS3039.1																																																																																				0.711	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		6	18	0	0	0	1	0	6	18				
PNMAL1	55228	broad.mit.edu	37	19	46973978	46973978	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46973978C>A	ENST00000313683.10	-	2	620	c.315G>T	c.(313-315)gaG>gaT	p.E105D	PNMAL1_ENST00000438932.2_Missense_Mutation_p.E105D|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	105										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tttttaaaaactcggcatcct	0.567																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(313-315)gaG>gaT		paraneoplastic Ma antigen family-like 1							42.0	43.0	43.0					19																	46973978		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973978C>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.315G>T	19.37:g.46973978C>A	ENSP00000318131:p.Glu105Asp					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.E105D	p.E105D	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	620	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	105					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.315G>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049694	0.36181	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.12039	2.72;2.72	3.36	-0.0611	0.13786	.	0.215315	0.23591	N	0.046541	T	0.11707	0.0285	L	0.58428	1.81	0.20074	N	0.999936	B;B	0.24576	0.106;0.028	B;B	0.26202	0.067;0.016	T	0.18745	-1.0327	10	0.51188	T	0.08	-19.098	3.8742	0.09050	0.0:0.5668:0.1995:0.2337	.	105;105	Q86V59-2;Q86V59	.;PNML1_HUMAN	D	105	ENSP00000410273:E105D;ENSP00000318131:E105D	ENSP00000318131:E105D	E	-	3	2	PNMAL1	51665818	0.992000	0.36948	0.436000	0.26797	0.968000	0.65278	0.646000	0.24797	0.087000	0.17167	-0.137000	0.14449	GAG		0.567	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		8	48	1	0	3.09899e-07	1	3.24337e-07	8	48				
MAP3K4	4216	broad.mit.edu	37	6	161505568	161505568	+	Missense_Mutation	SNP	G	G	A	rs142735217		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161505568G>A	ENST00000392142.4	+	7	2439	c.2291G>A	c.(2290-2292)aGt>aAt	p.S764N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S764N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S764N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	764					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTACAGGAAGTTTTTTAGAA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2290-2292)aGt>aAt		mitogen-activated protein kinase kinase kinase 4							145.0	141.0	143.0					6																	161505568		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161505568G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2291G>A	6.37:g.161505568G>A	ENSP00000375986:p.Ser764Asn					MAP3K4_ENST00000366920.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S764N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S764N	p.S764N	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	7	2439	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	764					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2291G>A	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537596	0.45176	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.88	4.96	0.65561	.	0.320544	0.32987	N	0.005411	T	0.35364	0.0929	L	0.34521	1.04	0.22562	N	0.998986	B;B;B	0.31625	0.332;0.082;0.224	B;B;B	0.29440	0.102;0.069;0.047	T	0.04752	-1.0929	10	0.18276	T	0.48	-19.5131	7.3412	0.26637	0.0822:0.0:0.6589:0.2589	.	764;764;764	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	N	764	ENSP00000355886:S764N;ENSP00000375986:S764N;ENSP00000355887:S764N;ENSP00000297332:S764N	ENSP00000297332:S764N	S	+	2	0	MAP3K4	161425558	0.997000	0.39634	0.207000	0.23584	0.917000	0.54804	3.536000	0.53582	2.785000	0.95823	0.650000	0.86243	AGT		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			24	49	0	0	0	1	0	24	49				
RALGAPA2	57186	broad.mit.edu	37	20	20618022	20618022	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:20618022A>G	ENST00000202677.7	-	8	797	c.790T>C	c.(790-792)Tac>Cac	p.Y264H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	264					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACAGGTTTGTAGATGTTTGTT	0.318																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(790-792)Tac>Cac		Ral GTPase activating protein, alpha subunit 2 (catalytic)							38.0	37.0	37.0					20																	20618022		1823	4072	5895	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20618022A>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.790T>C	20.37:g.20618022A>G	ENSP00000202677:p.Tyr264His						p.Y264H	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			8	932	-			264					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.790T>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.484795|4.484795	0.84854|0.84854	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	.|T;T;T	.|0.78246	.|-1.16;-1.16;-1.16	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.110851	.|0.64402	.|D	.|0.000005	D|D	0.88370|0.88370	0.6418|0.6418	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.89972|0.89972	0.4094|0.4094	5|10	.|0.87932	.|D	.|0	.|.	15.9212|15.9212	0.79575|0.79575	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|264	.|Q2PPJ7	.|RGPA2_HUMAN	P|H	115|264;116;116;264	.|ENSP00000202677:Y264H;ENSP00000400901:Y116H;ENSP00000412795:Y264H	.|ENSP00000202677:Y264H	L|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20566022|20566022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.499000|8.499000	0.90494|0.90494	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	CTA|TAC		0.318	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	15	0	0	0	1	0	5	15				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625190	74625190	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:74625190C>T	ENST00000156626.7	-	2	934	c.735G>A	c.(733-735)acG>acA	p.T245T	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	245					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GGTTTCTCTGCGTCGTGGGGC	0.542																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(733-735)acG>acA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							47.0	51.0	50.0					17																	74625190		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625190C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.735G>A	17.37:g.74625190C>T						ST6GALNAC1_ENST00000590878.1_5'UTR	p.T245T	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	934	-			245					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.735G>A	CCDS11748.1																																																																																				0.542	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		24	44	0	0	0	1	0	24	44				
BMPER	168667	broad.mit.edu	37	7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:34118619G>A	ENST00000297161.2	+	13	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	410	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1228-1230)cGc>cAc		BMP binding endothelial regulator							89.0	94.0	93.0					7																	34118619		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118619G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1229G>A	7.37:g.34118619G>A	ENSP00000297161:p.Arg410His					BMPER_ENST00000426693.1_Missense_Mutation_p.R410H	p.R410H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1603	+			410			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1229G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657531	0.96734	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59772	0.24;0.24	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74999	-0.3472	10	0.33940	T	0.23	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	410	Q8N8U9	BMPER_HUMAN	H	410	ENSP00000297161:R410H;ENSP00000393950:R410H	ENSP00000297161:R410H	R	+	2	0	BMPER	34085144	1.000000	0.71417	0.933000	0.37362	0.996000	0.88848	9.476000	0.97823	2.781000	0.95711	0.655000	0.94253	CGC		0.622	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		28	46	0	0	0	1	0	28	46				
SDPR	8436	broad.mit.edu	37	2	192711441	192711441	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192711441C>T	ENST00000304141.4	-	1	540	c.211G>A	c.(211-213)Gct>Act	p.A71T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCCTGCACAGCGTCTAGCATG	0.567																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(211-213)Gct>Act		serum deprivation response	Phosphatidylserine(DB00144)						115.0	94.0	101.0					2																	192711441		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711441C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.211G>A	2.37:g.192711441C>T	ENSP00000305675:p.Ala71Thr					AC098617.1_ENST00000424116.2_RNA	p.A71T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	540	-			71						Missense_Mutation	SNP	ENST00000304141.4	37	c.211G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648810	0.29336	.	.	ENSG00000168497	ENST00000304141	T	0.59224	0.28	4.62	-1.06	0.10002	.	0.896645	0.09759	N	0.759491	T	0.31702	0.0805	N	0.20530	0.585	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.27365	-1.0076	10	0.02654	T	1	-2.8248	5.7567	0.18176	0.1997:0.4884:0.0:0.3119	.	71	O95810	SDPR_HUMAN	T	71	ENSP00000305675:A71T	ENSP00000305675:A71T	A	-	1	0	SDPR	192419686	0.000000	0.05858	0.444000	0.26895	0.970000	0.65996	-3.526000	0.00441	-0.092000	0.12417	0.484000	0.47621	GCT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		21	26	0	0	0	1	0	21	26				
CLEC1B	51266	broad.mit.edu	37	12	10149866	10149866	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10149866C>T	ENST00000298527.6	-	3	355	c.176G>A	c.(175-177)cGc>cAc	p.R59H	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R26H|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R26H	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	59					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TAGGTAATTGCGCTGCATGAC	0.348																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(76-78)cGc>cAc		C-type lectin domain family 1, member B							94.0	81.0	85.0					12																	10149866		1819	4088	5907	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149866C>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.176G>A	12.37:g.10149866C>T	ENSP00000298527:p.Arg59His					CLEC1B_ENST00000298527.6_Missense_Mutation_p.R59H|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R26H	p.R26H			Q9P126	CLC1B_HUMAN			4	346	-			59					Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.77G>A	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	1.416	-0.574131	0.03882	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.01474	4.85;4.98;4.85	4.04	1.63	0.23807	C-type lectin-like (1);	0.369617	0.23364	N	0.048994	T	0.00815	0.0027	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49263	-0.8958	9	.	.	.	.	7.2544	0.26168	0.0:0.2203:0.0:0.7797	.	26;59	Q9P126-2;Q9P126	.;CLC1B_HUMAN	H	26;59;26	ENSP00000406338:R26H;ENSP00000298527:R59H;ENSP00000327169:R26H	.	R	-	2	0	CLEC1B	10041133	0.072000	0.21174	0.114000	0.21550	0.013000	0.08279	0.133000	0.15912	-0.127000	0.11661	-1.853000	0.00566	CGC		0.348	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		5	23	0	0	0	1	0	5	23				
EME2	197342	broad.mit.edu	37	16	1825080	1825080	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1825080C>T	ENST00000568449.1	+	4	537	c.516C>T	c.(514-516)ccC>ccT	p.P172P	EME2_ENST00000307394.7_Silent_p.P172P|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GGATCTCCCCCGAGACCACCG	0.652								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(514-516)ccC>ccT	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							82.0	93.0	89.0					16																	1825080		2199	4298	6497	SO:0001819	synonymous_variant	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825080C>T	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.516C>T	16.37:g.1825080C>T						EME2_ENST00000568449.1_Silent_p.P172P	p.P172P			A4GXA9	EME2_HUMAN			4	516	+			172					Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	c.516C>T	CCDS58404.1																																																																																				0.652	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		32	104	0	0	0	1	0	32	104				
SCNN1G	6340	broad.mit.edu	37	16	23226476	23226476	+	Missense_Mutation	SNP	G	G	A	rs143742457	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23226476G>A	ENST00000300061.2	+	13	1779	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		19870	0.0		0.002	False		,,,				2504	0.0					ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1636-1638)Gtc>Atc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)	G	ILE/VAL	0,4394		0,0,2197	118.0	97.0	104.0		1636	-0.2	0.8	16	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCNN1G	NM_001039.3	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	546/650	23226476	2,12992	2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226476G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1636G>A	16.37:g.23226476G>A	ENSP00000300061:p.Val546Ile						p.V546I	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1779	+			546					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1636G>A	CCDS10608.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.31	2.198463	0.38806	0.0	2.33E-4	ENSG00000166828	ENST00000300061	T	0.61510	0.1	5.22	-0.207	0.13189	.	0.264181	0.31734	N	0.007159	T	0.45816	0.1361	L	0.52266	1.64	0.36561	D	0.872407	B	0.16603	0.018	B	0.15052	0.012	T	0.35871	-0.9771	10	0.30854	T	0.27	-8.1294	9.7885	0.40690	0.3343:0.0:0.6657:0.0	.	546	P51170	SCNNG_HUMAN	I	546	ENSP00000300061:V546I	ENSP00000300061:V546I	V	+	1	0	SCNN1G	23133977	0.930000	0.31532	0.847000	0.33407	0.918000	0.54935	1.297000	0.33400	-0.262000	0.09392	0.561000	0.74099	GTC		0.552	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		12	19	0	0	0	1	0	12	19				
SLC6A1	6529	broad.mit.edu	37	3	11061942	11061942	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:11061942G>A	ENST00000287766.4	+	6	936	c.515G>A	c.(514-516)cGc>cAc	p.R172H	SLC6A1_ENST00000536032.1_De_novo_Start_OutOfFrame|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	172					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	AACACAGACCGCTGCTTCTCC	0.592																																						ENST00000536032.1																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26								solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						173.0	121.0	139.0					3																	11061942		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11061942G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.515G>A	3.37:g.11061942G>A	ENSP00000287766:p.Arg172His					SLC6A1_ENST00000287766.4_Missense_Mutation_p.R172H				P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	0	289	+		Ovarian(110;0.0392)						Q8N4K8	Translation_Start_Site	SNP	ENST00000287766.4	37		CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317029	0.23908	.	.	ENSG00000157103	ENST00000287766	T	0.74842	-0.88	5.04	3.26	0.37387	.	0.073377	0.64402	N	0.000020	T	0.56262	0.1973	N	0.25031	0.7	0.80722	D	1	B	0.21071	0.051	B	0.16289	0.015	T	0.44050	-0.9353	10	0.20519	T	0.43	.	9.2705	0.37668	0.2298:0.0:0.7702:0.0	.	172	P30531	SC6A1_HUMAN	H	172	ENSP00000287766:R172H	ENSP00000287766:R172H	R	+	2	0	SLC6A1	11036942	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	1.501000	0.35693	0.720000	0.32209	0.561000	0.74099	CGC		0.592	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		10	16	0	0	0	1	0	10	16				
HIBCH	26275	broad.mit.edu	37	2	191161561	191161561	+	Missense_Mutation	SNP	C	C	T	rs553461468		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:191161561C>T	ENST00000359678.5	-	3	491	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	HIBCH_ENST00000392332.3_Missense_Mutation_p.R66Q	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	66					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			ATAAATCTGCCGAATCATATT	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18883	0.0		0.0	False		,,,				2504	0.0					ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(196-198)cGg>cAg		3-hydroxyisobutyryl-CoA hydrolase							121.0	118.0	119.0					2																	191161561		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161561C>T	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.197G>A	2.37:g.191161561C>T	ENSP00000352706:p.Arg66Gln					HIBCH_ENST00000359678.5_Missense_Mutation_p.R66Q	p.R66Q			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	336	-			66					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.197G>A	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414439	0.42817	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.72282	-0.29;-0.64;-0.29	5.33	2.6	0.31112	Crotonase, core (1);	0.228771	0.43579	N	0.000544	T	0.56187	0.1968	L	0.43598	1.365	0.80722	D	1	B;B	0.32338	0.3;0.365	B;B	0.20577	0.03;0.019	T	0.49670	-0.8915	10	0.42905	T	0.14	-5.126	9.1832	0.37154	0.0:0.7589:0.0:0.2411	.	66;66	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	Q	66;66;120	ENSP00000376144:R66Q;ENSP00000352706:R66Q;ENSP00000387247:R120Q	ENSP00000352706:R66Q	R	-	2	0	HIBCH	190869806	0.902000	0.30710	0.709000	0.30452	0.807000	0.45602	0.140000	0.16056	0.265000	0.21872	-0.126000	0.14955	CGG		0.358	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	56	0	0	0	1	0	7	56				
ZNF45	7596	broad.mit.edu	37	19	44418988	44418988	+	Silent	SNP	G	G	T	rs541398617		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44418988G>T	ENST00000269973.5	-	10	1690	c.600C>A	c.(598-600)gcC>gcA	p.A200A	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.A200A	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	200					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACCGACGGAAGGCATTATCAC	0.418																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(598-600)gcC>gcA		zinc finger protein 45							173.0	182.0	179.0					19																	44418988		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418988G>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.600C>A	19.37:g.44418988G>T						ZNF45_ENST00000589703.1_Silent_p.A200A|RP11-15A1.2_ENST00000586247.1_RNA	p.A200A	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	1690	-			200					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.600C>A	CCDS12632.1																																																																																				0.418	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		56	104	1	0	2.23044e-30	1	2.49988e-30	56	104				
MTMR8	55613	broad.mit.edu	37	X	63488627	63488627	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:63488627G>A	ENST00000374852.3	-	14	1972	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	635						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTCCAGAGATGCCCATGGCCT	0.537																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1903-1905)ggC>ggT		myotubularin related protein 8							91.0	75.0	80.0					X																	63488627		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488627G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1905C>T	X.37:g.63488627G>A						MTMR8_ENST00000453546.1_Intron	p.G635G	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	1972	-			635					Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	c.1905C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	2.186	-0.386364	0.04966	.	.	ENSG00000102043	ENST00000442913	.	.	.	3.99	0.417	0.16421	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	.	0.8162	0.01103	0.2729:0.1631:0.3866:0.1774	.	.	.	.	Y	439	.	.	H	-	1	0	MTMR8	63405352	0.095000	0.21747	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	-0.163000	0.10946	-0.312000	0.09012	CAT		0.537	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		17	16	0	0	0	1	0	17	16				
EPHB6	2051	broad.mit.edu	37	7	142562205	142562205	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142562205C>T	ENST00000392957.2	+	7	1434	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	216	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.T201M(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGGACACGGGGGCCTGC	0.657																																						ENST00000392957.2																			1	Substitution - Missense(1)	p.T201M(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(646-648)aCg>aTg		EPH receptor B6							71.0	85.0	80.0					7																	142562205		2198	4288	6486	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562205C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.647C>T	7.37:g.142562205C>T	ENSP00000376684:p.Thr216Met					EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M|EPHB6_ENST00000411471.2_Intron	p.T216M	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1434	+	Melanoma(164;0.059)		216					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.647C>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295824	0.60086	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03745	3.82;3.82	6.08	5.2	0.72013	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.48286	D	0.000181	T	0.08758	0.0217	L	0.28192	0.835	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	T	0.17623	-1.0363	10	0.72032	D	0.01	.	10.428	0.44389	0.0:0.8537:0.0:0.1463	.	216	O15197	EPHB6_HUMAN	M	216	ENSP00000376684:T216M;ENSP00000410789:T216M	ENSP00000376684:T216M	T	+	2	0	EPHB6	142272327	0.002000	0.14202	0.862000	0.33874	0.983000	0.72400	0.351000	0.20096	1.591000	0.50007	0.655000	0.94253	ACG		0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			55	41	0	0	0	1	0	55	41				
DSEL	92126	broad.mit.edu	37	18	65178558	65178558	+	Silent	SNP	C	C	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:65178558C>G	ENST00000310045.7	-	2	4791	c.3318G>C	c.(3316-3318)gtG>gtC	p.V1106V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1096					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACAAGAGGGACACTGCATTTG	0.393																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3316-3318)gtG>gtC		dermatan sulfate epimerase-like							59.0	56.0	57.0					18																	65178558		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178558C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3318G>C	18.37:g.65178558C>G						CTD-2541J13.2_ENST00000583493.1_RNA	p.V1106V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4791	-		Esophageal squamous(42;0.129)	1096					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3318G>C	CCDS11995.1																																																																																				0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		9	86	0	0	0	1	0	9	86				
CARD6	84674	broad.mit.edu	37	5	40843385	40843385	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:40843385C>T	ENST00000254691.5	+	2	614	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	CARD6_ENST00000381677.3_Missense_Mutation_p.H139Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTT	0.428																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(415-417)Cac>Tac		caspase recruitment domain family, member 6							57.0	59.0	58.0					5																	40843385		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843385C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.415C>T	5.37:g.40843385C>T	ENSP00000254691:p.His139Tyr					CARD6_ENST00000381677.3_Missense_Mutation_p.H139Y	p.H139Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			2	614	+			139					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.415C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	4.395	0.072925	0.08436	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32753	2.67;1.44	5.22	2.47	0.30058	.	1.503420	0.03780	N	0.261159	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.21827	-1.0234	10	0.02654	T	1	4.0601	6.4079	0.21674	0.0:0.696:0.0:0.304	.	139	Q9BX69	CARD6_HUMAN	Y	139	ENSP00000254691:H139Y;ENSP00000371093:H139Y	ENSP00000254691:H139Y	H	+	1	0	CARD6	40879142	0.008000	0.16893	0.098000	0.21074	0.301000	0.27625	0.318000	0.19504	0.353000	0.24079	0.655000	0.94253	CAC		0.428	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			9	52	0	0	0	1	0	9	52				
NLRP14	338323	broad.mit.edu	37	11	7059988	7059988	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7059988C>T	ENST00000299481.4	+	2	517	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGCGGGAGGACCTGGCCAATT	0.453																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(169-171)gaC>gaT		NLR family, pyrin domain containing 14							58.0	64.0	62.0					11																	7059988		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059988C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.171C>T	11.37:g.7059988C>T							p.D57D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	517	+			57			DAPIN.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.171C>T	CCDS7776.1																																																																																				0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		12	29	0	0	0	1	0	12	29				
MYO16	23026	broad.mit.edu	37	13	109779684	109779684	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:109779684C>T	ENST00000357550.2	+	30	3812	c.3771C>T	c.(3769-3771)tgC>tgT	p.C1257C	MYO16_ENST00000457511.2_Silent_p.C769C|MYO16_ENST00000356711.2_Silent_p.C1257C	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTCAGTCTGCGCGGCCGTGG	0.607																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3769-3771)tgC>tgT		myosin XVI							55.0	45.0	49.0					13																	109779684		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779684C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3771C>T	13.37:g.109779684C>T						MYO16_ENST00000357550.2_Silent_p.C1257C|MYO16_ENST00000457511.2_Silent_p.C769C	p.C1257C	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	3897	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1257						Silent	SNP	ENST00000357550.2	37	c.3771C>T	CCDS32008.1																																																																																				0.607	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	6	0	0	0	1	0	5	6				
AGTPBP1	23287	broad.mit.edu	37	9	88284431	88284431	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:88284431G>A	ENST00000357081.3	-	8	775	c.631C>T	c.(631-633)Cca>Tca	p.P211S	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P49S|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P211S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.P211S|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.P153S|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P263S|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.P153S			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	211					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTACTAAATGGTCCAATGATT	0.348																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(631-633)Cca>Tca		ATP/GTP binding protein 1							99.0	92.0	94.0					9																	88284431		2203	4299	6502	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88284431G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.631C>T	9.37:g.88284431G>A	ENSP00000349592:p.Pro211Ser					AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P263S|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P211S|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.P153S|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P49S|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.P153S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.P211S	p.P211S			Q9UPW5	CBPC1_HUMAN			8	775	-			211					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.631C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.448542	0.84101	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.75331	-0.3355	10	0.40728	T	0.16	-14.6491	19.9813	0.97326	0.0:0.0:1.0:0.0	.	263;211;49;211	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	S	153;211;211;263;49;211;153	ENSP00000338512:P153S;ENSP00000349592:P211S;ENSP00000365251:P211S;ENSP00000365277:P263S;ENSP00000402804:P49S;ENSP00000365249:P211S;ENSP00000365248:P153S	ENSP00000338512:P153S	P	-	1	0	AGTPBP1	87474251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.726000	0.93360	0.655000	0.94253	CCA		0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	58	0	0	0	1	0	8	58				
AK2	204	broad.mit.edu	37	1	33486968	33486968	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33486968C>A	ENST00000487289.1	-	4	440	c.425G>T	c.(424-426)aGc>aTc	p.S142I	AK2_ENST00000480134.1_Intron|AK2_ENST00000373449.2_Splice_Site_p.R142M|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Splice_Site_p.R142M|AK2_ENST00000548033.1_Splice_Site_p.R100M|AK2_ENST00000467905.1_Splice_Site_p.R142M					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGACAAATACCTTCCTGTGAT	0.453																																						ENST00000373449.2																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.e4+1		adenylate kinase 2							83.0	79.0	81.0					1																	33486968		2203	4300	6503	SO:0001630	splice_region_variant	204				nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	g.chr1:33486968C>A	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.425+1G>T	1.37:g.33486968C>A						AK2_ENST00000354858.6_Splice_Site_p.R142_splice|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Splice_Site_p.R100_splice|AK2_ENST00000480134.1_Intron|AK2_ENST00000487289.1_Splice_Site_p.S142_splice|AK2_ENST00000467905.1_Splice_Site_p.R142_splice	p.R142_splice	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN			4	466	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	142						Splice_Site	SNP	ENST00000487289.1	37	c.425_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.979089|4.979089	0.92982|0.92982	.|.	.|.	ENSG00000004455|ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192|ENST00000487289	D;D;D;D|T	0.99656|0.76578	-6.31;-6.31;-6.31;-6.31|-1.03	5.35|5.35	5.35|5.35	0.76521|0.76521	Adenylate kinase, active site lid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.94853|0.94853	0.8337|0.8337	H|H	0.99959|0.99959	5.06|5.06	0.33688|0.33688	D|D	0.612961|0.612961	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.987;1.0;1.0|.	D|D	0.98487|0.98487	1.0608|1.0608	9|6	.|.	.|.	.|.	-27.1146|-27.1146	19.9585|19.9585	0.97232|0.97232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100;142;142|.	F8VY04;P54819;P54819-2|.	.;KAD2_HUMAN;.|.	M|I	142;100;142;142;142|142	ENSP00000362548:R142M;ENSP00000449003:R100M;ENSP00000447082:R142M;ENSP00000346921:R142M|ENSP00000446849:S142I	.|.	R|S	-|-	2|2	0|0	AK2|AK2	33259555|33259555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.404000|7.404000	0.79996|0.79996	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	AGG|AGC		0.453	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4	NM_001625	Missense_Mutation	34	31	1	0	8.73648e-17	1	9.60375e-17	34	31				
UNC5B	219699	broad.mit.edu	37	10	73055655	73055655	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73055655C>T	ENST00000335350.6	+	14	2679	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	755	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R755C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACAACCTGCGCCTCTCCCT	0.617																																						ENST00000335350.6																			1	Substitution - Missense(1)	p.R755C(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2263-2265)Cgc>Tgc		unc-5 homolog B (C. elegans)							145.0	112.0	123.0					10																	73055655		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055655C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2263C>T	10.37:g.73055655C>T	ENSP00000334329:p.Arg755Cys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	p.R755C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2679	+			755					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2263C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110795	0.77210	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48201	0.89;0.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.33189	0.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.934	T	0.47923	-0.9079	10	0.19147	T	0.46	-37.7918	17.8363	0.88699	0.0:1.0:0.0:0.0	.	744;755	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	755;744	ENSP00000334329:R755C;ENSP00000362288:R744C	ENSP00000334329:R755C	R	+	1	0	UNC5B	72725661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.569000	0.60865	2.437000	0.82529	0.591000	0.81541	CGC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	24	0	0	0	1	0	3	24				
HMHA1	23526	broad.mit.edu	37	19	1074184	1074184	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:1074184A>G	ENST00000313093.2	+	7	1103	c.872A>G	c.(871-873)aAc>aGc	p.N291S	HMHA1_ENST00000590214.1_Missense_Mutation_p.N318S|HMHA1_ENST00000586866.1_Missense_Mutation_p.N295S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N131S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N307S|HMHA1_ENST00000543365.1_Missense_Mutation_p.N174S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	291					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGCCAAGAACATGGCCAAG	0.652																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(871-873)aAc>aGc		histocompatibility (minor) HA-1							74.0	62.0	66.0					19																	1074184		2203	4300	6503	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1074184A>G	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.872A>G	19.37:g.1074184A>G	ENSP00000316772:p.Asn291Ser					HMHA1_ENST00000590214.1_Missense_Mutation_p.N318S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N131S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N307S|HMHA1_ENST00000543365.1_Missense_Mutation_p.N174S|HMHA1_ENST00000586866.1_Missense_Mutation_p.N295S	p.N291S	NM_012292.3	NP_036424.2	Q92619	HMHA1_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)	7	1103	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	291					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.872A>G	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	5.617	0.298591	0.10622	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.3	1.01	0.19927	Fps/Fes/Fer/CIP4 homology (1);	0.343008	0.29106	N	0.013129	T	0.26991	0.0661	L	0.46157	1.445	0.27689	N	0.94618	B;B;B;B	0.26744	0.158;0.023;0.079;0.007	B;B;B;B	0.20184	0.028;0.027;0.018;0.008	T	0.30060	-0.9991	10	0.08381	T	0.77	-22.2704	7.3824	0.26864	0.721:0.0:0.279:0.0	.	131;307;174;291	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	S	307;291;291;131;285;174	ENSP00000439601:N307S;ENSP00000316772:N291S;ENSP00000445109:N131S;ENSP00000438979:N174S	ENSP00000316772:N291S	N	+	2	0	HMHA1	1025184	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	0.945000	0.29056	-0.159000	0.11021	0.402000	0.26972	AAC		0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			30	22	0	0	0	1	0	30	22				
ZBTB17	7709	broad.mit.edu	37	1	16272237	16272237	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16272237C>T	ENST00000375743.4	-	6	866	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A130T|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A212T|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A149T	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	212					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GACAAAGCGGCCTCAGCTTCT	0.682																																						ENST00000375733.2																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(634-636)Gcc>Acc		zinc finger and BTB domain containing 17							30.0	33.0	32.0					1																	16272237		2202	4293	6495	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16272237C>T	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.634G>A	1.37:g.16272237C>T	ENSP00000364895:p.Ala212Thr					ZBTB17_ENST00000375743.4_Missense_Mutation_p.A212T|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A130T|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A149T	p.A212T			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	6	872	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	212					A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.634G>A	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607257	0.28623	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.12465	2.71;2.68;2.99;2.98	4.29	3.36	0.38483	.	0.628359	0.15487	N	0.259795	T	0.07098	0.0180	N	0.08118	0	0.32300	N	0.565132	P;P;B;P;P;B	0.50156	0.932;0.89;0.447;0.59;0.629;0.319	P;B;B;B;B;B	0.45310	0.476;0.393;0.261;0.261;0.309;0.093	T	0.05419	-1.0886	10	0.29301	T	0.29	.	4.6339	0.12514	0.2199:0.6685:0.0:0.1115	.	136;149;212;130;212;212	B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	T	212;212;131;130;149	ENSP00000364895:A212T;ENSP00000364885:A212T;ENSP00000438529:A130T;ENSP00000391002:A149T	ENSP00000364885:A212T	A	-	1	0	ZBTB17	16144824	0.000000	0.05858	0.662000	0.29724	0.173000	0.22820	-0.049000	0.11924	2.309000	0.77851	0.462000	0.41574	GCC		0.682	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		19	31	0	0	0	1	0	19	31				
IGSF22	283284	broad.mit.edu	37	11	18743465	18743465	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:18743465G>A	ENST00000513874.1	-	3	372	c.233C>T	c.(232-234)gCg>gTg	p.A78V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	78	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACCCTCGGGCGCGGTGACCGG	0.617											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(232-234)gCg>gTg		immunoglobulin superfamily, member 22							53.0	61.0	58.0					11																	18743465		2029	4171	6200	SO:0001583	missense	283284							g.chr11:18743465G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.233C>T	11.37:g.18743465G>A	ENSP00000421191:p.Ala78Val		OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	RP11-1081L13.4_ENST00000527285.1_RNA	p.A78V	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			3	372	-			78			Ig-like 1.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.233C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791628	0.16258	.	.	ENSG00000179057	ENST00000513874	T	0.62788	-0.0	5.24	4.33	0.51752	.	1.008340	0.08003	U	0.989048	T	0.38214	0.1032	N	0.11341	0.13	0.09310	N	1	B	0.22800	0.075	B	0.17098	0.017	T	0.25916	-1.0118	10	0.02654	T	1	.	8.0719	0.30693	0.0821:0.0:0.7614:0.1565	.	78	D6RGV7	.	V	78	ENSP00000421191:A78V	ENSP00000322422:A78V	A	-	2	0	IGSF22	18700041	0.022000	0.18835	0.002000	0.10522	0.599000	0.36880	2.058000	0.41374	1.217000	0.43442	0.655000	0.94253	GCG		0.617	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		27	32	0	0	0	1	0	27	32				
KIAA1244	57221	broad.mit.edu	37	6	138584445	138584445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:138584445G>A	ENST00000251691.4	+	12	1991	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACAGAGTTTGATTCCTGTGA	0.478																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1825-1827)Gat>Aat		KIAA1244							201.0	207.0	205.0					6																	138584445		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584445G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1825G>A	6.37:g.138584445G>A	ENSP00000251691:p.Asp609Asn						p.D609N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1991	+	Breast(32;0.135)		609			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.1825G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802070	0.90538	.	.	ENSG00000112379	ENST00000251691	T	0.28666	1.6	5.32	5.32	0.75619	SEC7-like (1);	2.240520	0.02328	N	0.073650	T	0.49355	0.1552	L	0.57536	1.79	0.58432	D	0.999998	D	0.69078	0.997	D	0.77004	0.989	T	0.31110	-0.9955	10	0.32370	T	0.25	-26.8524	19.0069	0.92854	0.0:0.0:1.0:0.0	.	609	Q5TH69	BIG3_HUMAN	N	609	ENSP00000251691:D609N	ENSP00000251691:D609N	D	+	1	0	KIAA1244	138626138	1.000000	0.71417	0.598000	0.28837	0.923000	0.55619	9.496000	0.97967	2.482000	0.83794	0.655000	0.94253	GAT		0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		79	96	0	0	0	1	0	79	96				
LRRN1	57633	broad.mit.edu	37	3	3886434	3886434	+	Missense_Mutation	SNP	G	G	A	rs375458276		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3886434G>A	ENST00000319331.3	+	2	870	c.109G>A	c.(109-111)Gta>Ata	p.V37I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	37	LRRNT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAACTTTGCGTATGTGAAAT	0.453																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(109-111)Gta>Ata		leucine rich repeat neuronal 1		G	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	137.0	125.0	129.0		109	5.8	0.2	3		129	0,8600		0,0,4300	no	missense	LRRN1	NM_020873.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	37/717	3886434	2,13004	2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886434G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.109G>A	3.37:g.3886434G>A	ENSP00000314901:p.Val37Ile					SUMF1_ENST00000534863.1_Intron	p.V37I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	870	+			37			LRRNT.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.109G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704691	0.88924	4.54E-4	0.0	ENSG00000175928	ENST00000319331	T	0.22134	1.97	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.06991	-1.0796	10	0.37606	T	0.19	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	37	Q6UXK5	LRRN1_HUMAN	I	37	ENSP00000314901:V37I	ENSP00000314901:V37I	V	+	1	0	LRRN1	3861434	1.000000	0.71417	0.181000	0.23098	0.977000	0.68977	7.797000	0.85911	2.713000	0.92767	0.655000	0.94253	GTA		0.453	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		16	38	0	0	0	1	0	16	38				
FRMPD4	9758	broad.mit.edu	37	X	12704240	12704240	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:12704240C>A	ENST00000380682.1	+	7	1104	c.598C>A	c.(598-600)Ctt>Att	p.L200I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	200					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAACTCACTTCTTTTTATGCC	0.363																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(598-600)Ctt>Att		FERM and PDZ domain containing 4							119.0	105.0	110.0					X																	12704240		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12704240C>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.598C>A	X.37:g.12704240C>A	ENSP00000370057:p.Leu200Ile						p.L200I	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			7	1104	+			200					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.598C>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942611	0.92526	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08282	3.11	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.27765	0.0683	L	0.60455	1.87	0.42214	D	0.991822	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.989	T	0.00607	-1.1647	10	0.66056	D	0.02	.	18.6898	0.91578	0.0:1.0:0.0:0.0	.	192;200	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	200;191;189	ENSP00000370057:L200I	ENSP00000304583:L189I	L	+	1	0	FRMPD4	12614161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.357000	0.79964	0.600000	0.82982	CTT		0.363	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		24	6	1	0	2.48779e-11	1	2.67617e-11	24	6				
MYH13	8735	broad.mit.edu	37	17	10231371	10231371	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10231371T>A	ENST00000418404.3	-	21	2666	c.2503A>T	c.(2503-2505)Aac>Tac	p.N835Y	MYH13_ENST00000252172.4_Missense_Mutation_p.N835Y|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	835					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGAACAGGTTCATCCAGGGC	0.483											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2503-2505)Aac>Tac		myosin, heavy chain 13, skeletal muscle							91.0	89.0	90.0					17																	10231371		2197	4300	6497	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231371T>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2503A>T	17.37:g.10231371T>A	ENSP00000404570:p.Asn835Tyr		OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	MYH13_ENST00000570743.1_Missense_Mutation_p.N835Y|MYH13_ENST00000252172.4_Missense_Mutation_p.N835Y|RP11-401O9.3_ENST00000577743.1_RNA	p.N835Y			Q9UKX3	MYH13_HUMAN			21	2666	-			835					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2503A>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423616	0.62733	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.71461	-0.57	4.01	4.01	0.46588	.	.	.	.	.	T	0.66848	0.2831	L	0.40543	1.245	0.46437	D	0.99904	B	0.18013	0.025	B	0.34093	0.175	T	0.68496	-0.5393	9	0.87932	D	0	.	13.4056	0.60911	0.0:0.0:0.0:1.0	.	835	Q9UKX3	MYH13_HUMAN	Y	835;510	ENSP00000252172:N835Y	ENSP00000252172:N835Y	N	-	1	0	MYH13	10172096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.815000	0.52974	0.460000	0.39030	AAC		0.483	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		24	37	0	0	0	1	0	24	37				
RNF169	254225	broad.mit.edu	37	11	74554403	74554403	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:74554403G>A	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.R466W|XRRA1_ENST00000527087.1_3'UTR|XRRA1_ENST00000340360.6_Missense_Mutation_p.R741W	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACCAGCTGCCGGTAACGTGCC	0.627																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(2221-2223)Cgg>Tgg		X-ray radiation resistance associated 1							41.0	55.0	50.0					11																	74554403		2154	4246	6400	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74554403G>A	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554403G>A						XRRA1_ENST00000527087.1_3'UTR|XRRA1_ENST00000321448.8_Missense_Mutation_p.R466W	p.R741W	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			19	2552	-			741					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.2221C>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552497	0.65425	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.52295	0.67;1.4	5.15	4.18	0.49190	.	.	.	.	.	T	0.64204	0.2577	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.928;0.984;0.973;0.987	T	0.66081	-0.6012	9	0.87932	D	0	-14.246	9.9809	0.41813	0.0:0.0:0.7842:0.2158	.	741;685;351;727	Q6P2D8;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.	W	741;466;727;685	ENSP00000339918:R741W;ENSP00000319303:R466W	ENSP00000319303:R466W	R	-	1	2	XRRA1	74232051	0.567000	0.26626	1.000000	0.80357	0.448000	0.32197	0.543000	0.23237	2.677000	0.91161	0.563000	0.77884	CGG		0.627	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		6	5	0	0	0	1	0	6	5				
CSPG4	1464	broad.mit.edu	37	15	75981969	75981969	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75981969G>A	ENST00000308508.5	-	3	1529	c.1437C>T	c.(1435-1437)ggC>ggT	p.G479G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	479	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCGAGCTCGCCATGGCGTG	0.637																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1435-1437)ggC>ggT		chondroitin sulfate proteoglycan 4							67.0	61.0	63.0					15																	75981969		2197	4289	6486	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981969G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1437C>T	15.37:g.75981969G>A							p.G479G	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1529	-			479			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.1437C>T	CCDS10284.1																																																																																				0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		31	37	0	0	0	1	0	31	37				
ATG2A	23130	broad.mit.edu	37	11	64678617	64678617	+	Silent	SNP	C	C	T	rs151243555		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64678617C>T	ENST00000377264.3	-	10	1471	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	ATG2A_ENST00000421419.2_Silent_p.T453T	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	453					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.T453T(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						TGAAAAAGTGCGTGGCGAGGT	0.607																																						ENST00000421419.2																			1	Substitution - coding silent(1)	p.T453T(1)	lung(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						c.(1357-1359)acG>acA		autophagy related 2A		C		0,4402		0,0,2201	115.0	105.0	108.0		1359	2.9	0.8	11	dbSNP_134	108	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	ATG2A	NM_015104.2		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		453/1939	64678617	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64678617C>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.1359G>A	11.37:g.64678617C>T						ATG2A_ENST00000377264.3_Silent_p.T453T	p.T453T			Q2TAZ0	ATG2A_HUMAN			10	1473	-			453					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1359G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	8.873	0.949673	0.18431	0.0	2.33E-4	ENSG00000110046	ENST00000418259	.	.	.	4.82	2.94	0.34122	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.34104	-0.9842	4	.	.	.	.	3.6373	0.08154	0.092:0.175:0.5683:0.1647	.	.	.	.	T	255	.	.	A	-	1	0	ATG2A	64435193	0.998000	0.40836	0.815000	0.32552	0.924000	0.55760	0.420000	0.21263	0.756000	0.33013	-1.083000	0.02208	GCA		0.607	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		10	12	0	0	0	1	0	10	12				
ANP32D	23519	broad.mit.edu	37	12	48866542	48866542	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48866542G>A	ENST00000266594.1	+	1	95	c.95G>A	c.(94-96)gGc>gAc	p.G32D		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	32						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCAAATGAAGGCAAATTGGAA	0.413																																						ENST00000266594.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-96)gGc>gAc		acidic (leucine-rich) nuclear phosphoprotein 32 family, member D							139.0	141.0	141.0					12																	48866542		2203	4300	6503	SO:0001583	missense	23519							g.chr12:48866542G>A	U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.95G>A	12.37:g.48866542G>A	ENSP00000266594:p.Gly32Asp						p.G32D	NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN			1	95	+			32					Q6NTC4	Missense_Mutation	SNP	ENST00000266594.1	37	c.95G>A	CCDS31788.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208941	0.58343	.	.	ENSG00000139223	ENST00000266594	T	0.00330	8.08	1.57	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.00784	0.0026	M	0.92459	3.31	0.80722	D	1	P	0.41710	0.76	P	0.56514	0.8	T	0.57911	-0.7729	10	0.87932	D	0	.	8.8162	0.34998	0.0:0.0:1.0:0.0	.	32	O95626	AN32D_HUMAN	D	32	ENSP00000266594:G32D	ENSP00000266594:G32D	G	+	2	0	ANP32D	47152809	1.000000	0.71417	0.008000	0.14137	0.125000	0.20455	6.288000	0.72679	0.912000	0.36772	0.121000	0.15741	GGC		0.413	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370058.1	NM_012404		52	88	0	0	0	1	0	52	88				
TENC1	23371	broad.mit.edu	37	12	53445691	53445691	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53445691C>A	ENST00000314250.6	+	2	418	c.128C>A	c.(127-129)cCt>cAt	p.P43H	TENC1_ENST00000451358.1_Missense_Mutation_p.P43H|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000552570.1_Missense_Mutation_p.P43H|TENC1_ENST00000549700.1_Missense_Mutation_p.P43H|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.P53H|TENC1_ENST00000546602.1_Missense_Mutation_p.P43H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	43					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGAAGAAACCTCCAGTCTGT	0.557																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(127-129)cCt>cAt		tensin like C1 domain containing phosphatase (tensin 2)							210.0	178.0	189.0					12																	53445691		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53445691C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.128C>A	12.37:g.53445691C>A	ENSP00000319684:p.Pro43His					TENC1_ENST00000451358.1_Missense_Mutation_p.P43H|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.P43H|TENC1_ENST00000549700.1_Missense_Mutation_p.P43H|TENC1_ENST00000552570.1_Missense_Mutation_p.P43H|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000314276.3_Missense_Mutation_p.P53H	p.P43H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			2	418	+			43					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.128C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918824	0.73098	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.36	4.46	0.54185	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.791679	0.11199	N	0.589071	D	0.88055	0.6334	L	0.53671	1.685	0.23784	N	0.996851	B;B;P;D	0.61697	0.214;0.115;0.8;0.99	B;B;B;P	0.56823	0.111;0.16;0.421;0.807	T	0.78102	-0.2335	10	0.72032	D	0.01	-11.4232	10.2675	0.43464	0.0:0.9078:0.0:0.0922	.	43;43;53;20	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	H	53;43;43;43;43;43;43	ENSP00000319756:P53H;ENSP00000319684:P43H;ENSP00000393362:P43H;ENSP00000449363:P43H;ENSP00000447021:P43H;ENSP00000449361:P43H	ENSP00000319684:P43H	P	+	2	0	TENC1	51731958	0.020000	0.18652	0.980000	0.43619	0.999000	0.98932	1.260000	0.32968	1.388000	0.46506	0.655000	0.94253	CCT		0.557	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		26	34	1	0	2.61193e-14	1	2.84738e-14	26	34				
CMPK2	129607	broad.mit.edu	37	2	7003601	7003601	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:7003601C>T	ENST00000256722.5	-	2	783	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	CMPK2_ENST00000404168.1_Missense_Mutation_p.A262T|CMPK2_ENST00000458098.1_Missense_Mutation_p.A262T|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	262					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTACCCGTGGCATCCAGTCCT	0.433																																						ENST00000256722.5																			0				large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(784-786)Gcc>Acc		cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial							118.0	118.0	118.0					2																	7003601		1900	4117	6017	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7003601C>T		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.784G>A	2.37:g.7003601C>T	ENSP00000256722:p.Ala262Thr					CMPK2_ENST00000404168.1_Missense_Mutation_p.A262T|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Missense_Mutation_p.A262T	p.A262T	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN			2	783	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		262					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.784G>A	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955277	0.92726	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	D;D;D	0.94897	-3.55;-3.55;-3.55	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97210	0.9870	10	0.54805	T	0.06	-24.8337	18.7567	0.91835	0.0:1.0:0.0:0.0	.	262;262	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	T	262	ENSP00000396385:A262T;ENSP00000256722:A262T;ENSP00000384915:A262T	ENSP00000256722:A262T	A	-	1	0	CMPK2	6921052	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.409000	0.73289	2.431000	0.82371	0.557000	0.71058	GCC		0.433	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		23	42	0	0	0	1	0	23	42				
MANSC1	54682	broad.mit.edu	37	12	12483540	12483540	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12483540C>T	ENST00000535902.1	-	4	1280	c.717G>A	c.(715-717)tcG>tcA	p.S239S	MANSC1_ENST00000545735.1_Silent_p.S158S|MANSC1_ENST00000396349.3_Silent_p.S205S			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	239	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTGGAGTAGCCGAGGTGGTAT	0.542																																						ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(715-717)tcG>tcA		MANSC domain containing 1							96.0	102.0	100.0					12																	12483540		2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483540C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.717G>A	12.37:g.12483540C>T						MANSC1_ENST00000396349.3_Silent_p.S205S|MANSC1_ENST00000545735.1_Silent_p.S158S	p.S239S			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1280	-		Prostate(47;0.0865)	239			Thr-rich.		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.717G>A	CCDS8648.1																																																																																				0.542	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		11	38	0	0	0	1	0	11	38				
BBOX1	8424	broad.mit.edu	37	11	27076939	27076939	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:27076939G>A	ENST00000528583.1	+	2	166		c.e2-1		BBOX1_ENST00000529202.1_Intron|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_5'UTR|BBOX1_ENST00000263182.3_Splice_Site			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1						carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ATTTGTCATAGCAGGTAGCTG	0.468																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.e3-1		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						54.0	52.0	53.0					11																	27076939		2202	4299	6501	SO:0001630	splice_region_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27076939G>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000528583.1:c.-38-1G>A	11.37:g.27076939G>A						BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_5'UTR|BBOX1_ENST00000529202.1_Intron|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Splice_Site		NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	330	+								B2R8L7|D3DQZ1|Q6IBJ2	Splice_Site	SNP	ENST00000528583.1	37		CCDS7862.1																																																																																				0.468	BBOX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387949.1	NM_003986	Intron	9	14	0	0	0	1	0	9	14				
KCNV2	169522	broad.mit.edu	37	9	2718278	2718278	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2718278G>A	ENST00000382082.3	+	1	777	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	180					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGTCCGCGCCGCTTCCTGGAG	0.657																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(538-540)cGc>cAc		potassium channel, subfamily V, member 2							19.0	17.0	18.0					9																	2718278		2200	4290	6490	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718278G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.539G>A	9.37:g.2718278G>A	ENSP00000371514:p.Arg180His						p.R180H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	777	+			180					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.539G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186401	0.21870	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	T	0.76839	-1.05	4.91	3.08	0.35506	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.226336	0.52532	D	0.000077	T	0.61035	0.2315	N	0.14661	0.345	0.20074	N	0.999932	B	0.19583	0.037	B	0.15484	0.013	T	0.53669	-0.8406	10	0.52906	T	0.07	.	11.2399	0.48964	0.1354:0.0:0.8646:0.0	.	180	Q8TDN2	KCNV2_HUMAN	H	180	ENSP00000371514:R180H	ENSP00000371514:R180H	R	+	2	0	KCNV2	2708278	0.766000	0.28496	0.611000	0.29010	0.130000	0.20726	1.279000	0.33191	0.492000	0.27815	0.407000	0.27541	CGC		0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		3	4	0	0	0	1	0	3	4				
ABI2	10152	broad.mit.edu	37	2	204259440	204259440	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:204259440G>A	ENST00000422511.2	+	6	627	c.596G>A	c.(595-597)cGc>cAc	p.R199H	ABI2_ENST00000430418.1_Intron|ABI2_ENST00000295851.5_Missense_Mutation_p.R199H|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.R193H|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.R193H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.R148H			Q9NYB9	ABI2_HUMAN	abl-interactor 2	199	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCCCCCTATCGCACACTGGAG	0.498																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(595-597)cGc>cAc		abl-interactor 2							120.0	110.0	114.0					2																	204259440		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259440G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.596G>A	2.37:g.204259440G>A	ENSP00000396249:p.Arg199His					ABI2_ENST00000261016.6_Missense_Mutation_p.R148H|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.R193H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000422511.2_Missense_Mutation_p.R199H|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.R193H|RAPH1_ENST00000457812.1_3'UTR	p.R199H			Q9NYB9	ABI2_HUMAN			6	892	+			199			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.596G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.729978|4.729978	0.89390|0.89390	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	.|D;D;D;D;D;D	.|0.94966	.|-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.044334	.|0.85682	.|D	.|0.000000	D|D	0.96772|0.96772	0.8946|0.8946	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.999;0.997	.|P;D;D;P;D;D	.|0.77004	.|0.749;0.95;0.989;0.891;0.984;0.93	D|D	0.96813|0.96813	0.9598|0.9598	5|10	.|0.87932	.|D	.|0	-7.7344|-7.7344	20.1996|20.1996	0.98256|0.98256	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|34;137;193;148;199;193	.|B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;ABI2_HUMAN;.	T|H	65;40|199;193;193;148;199;199	.|ENSP00000295851:R199H;ENSP00000261017:R193H;ENSP00000391433:R193H;ENSP00000261016:R148H;ENSP00000414703:R199H;ENSP00000396249:R199H	.|ENSP00000261016:R148H	A|R	+|+	1|2	0|0	ABI2|ABI2	203967685|203967685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.775000|7.775000	0.85489|0.85489	2.776000|2.776000	0.95493|0.95493	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.498	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		4	64	0	0	0	1	0	4	64				
NUPL1	9818	broad.mit.edu	37	13	25881944	25881944	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25881944C>A	ENST00000381736.3	+	2	358	c.108C>A	c.(106-108)agC>agA	p.S36R	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Splice_Site_p.S36R|NUPL1_ENST00000381718.3_Splice_Site_p.S36R	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	36	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTAAATAAGCAACCCTTCTG	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.e2-1		nucleoporin like 1							51.0	56.0	55.0					13																	25881944		2203	4300	6503	SO:0001630	splice_region_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25881944C>A	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.108-1C>A	13.37:g.25881944C>A						NUPL1_ENST00000381736.3_Splice_Site_p.S36_splice|NUPL1_ENST00000381718.3_Splice_Site_p.S36_splice|NUPL1_ENST00000466694.1_3'UTR	p.S36_splice			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	2	251	+		Lung SC(185;0.0225)|Breast(139;0.0351)	36			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Splice_Site	SNP	ENST00000381736.3	37	c.107_splice	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138408	0.37728	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747	T;T;T;T	0.39056	1.35;1.34;1.1;1.31	5.72	3.92	0.45320	.	0.171472	0.50627	D	0.000107	T	0.51839	0.1698	L	0.51422	1.61	0.50632	D	0.999885	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.71870	0.975;0.975;0.975	T	0.46275	-0.9203	9	.	.	.	.	6.7078	0.23260	0.0:0.559:0.0:0.441	.	36;36;36	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	R	36;36;13;36;36;36	ENSP00000371155:S36R;ENSP00000418555:S36R;ENSP00000371137:S36R;ENSP00000371166:S36R	.	S	+	3	2	NUPL1	24779944	1.000000	0.71417	0.999000	0.59377	0.632000	0.37999	0.696000	0.25541	0.684000	0.31448	0.655000	0.94253	AGC		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		Missense_Mutation	29	38	1	0	7.11191e-15	1	7.77369e-15	29	38				
ST18	9705	broad.mit.edu	37	8	53084572	53084572	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:53084572G>A	ENST00000276480.7	-	10	1532	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	283					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGCTCTCGCTATCTTCCT	0.537																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(847-849)agC>agT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							97.0	93.0	94.0					8																	53084572		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084572G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.849C>T	8.37:g.53084572G>A							p.S283S	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1532	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	283					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.849C>T	CCDS6149.1																																																																																				0.537	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			22	37	0	0	0	1	0	22	37				
AVIL	10677	broad.mit.edu	37	12	58190056	58190056	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58190056G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000323833.8_Missense_Mutation_p.S244N|TSFM_ENST00000350762.5_Missense_Mutation_p.S183N|TSFM_ENST00000454289.3_Missense_Mutation_p.S223N|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCAATGCAGAGTCCCTCACTT	0.512																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(667-669)aGt>aAt		Ts translation elongation factor, mitochondrial							52.0	45.0	47.0					12																	58190056		2203	4300	6503	SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58190056G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190056G>A						TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000350762.5_Missense_Mutation_p.S183N|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.S244N	p.S223N	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			6	881	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		223					B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.668G>A	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	G	0.633	-0.816254	0.02776	.	.	ENSG00000123297	ENST00000454289;ENST00000323833;ENST00000350762	.	.	.	5.1	4.21	0.49690	Translation elongation factor EFTs/EF1B, dimerisation (2);	0.365064	0.26549	N	0.023750	T	0.17704	0.0425	N	0.16233	0.39	0.09310	N	1	B;B;B	0.27416	0.014;0.009;0.178	B;B;B	0.24155	0.003;0.006;0.051	T	0.15607	-1.0431	9	0.15952	T	0.53	.	5.2946	0.15745	0.163:0.1795:0.6575:0.0	.	183;223;244	F8W6R3;P43897;P43897-2	.;EFTS_HUMAN;.	N	223;244;183	.	ENSP00000313877:S244N	S	+	2	0	TSFM	56476323	0.539000	0.26402	0.288000	0.24862	0.637000	0.38172	2.963000	0.49184	1.373000	0.46208	-0.304000	0.09214	AGT		0.512	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		4	11	0	0	0	1	0	4	11				
PCDH8	5100	broad.mit.edu	37	13	53420780	53420780	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:53420780G>A	ENST00000377942.3	-	1	1995	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	PCDH8_ENST00000338862.4_Missense_Mutation_p.R598C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCAGCACGCGCACTTGCACT	0.657																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1792-1794)Cgc>Tgc		protocadherin 8							15.0	16.0	16.0					13																	53420780		2191	4292	6483	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420780G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1792C>T	13.37:g.53420780G>A	ENSP00000367177:p.Arg598Cys					PCDH8_ENST00000338862.4_Missense_Mutation_p.R598C	p.R598C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1995	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	598			Cadherin 5.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1792C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096714	0.36952	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.52754	0.65;0.65	3.9	2.1	0.27182	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38897	N	0.001522	T	0.58609	0.2134	L	0.46947	1.48	0.47476	D	0.999431	D;D	0.89917	1.0;1.0	D;D	0.75020	0.954;0.985	T	0.58725	-0.7586	10	0.72032	D	0.01	.	12.2791	0.54753	0.0:0.0:0.4233:0.5767	.	598;598	O95206-2;O95206	.;PCDH8_HUMAN	C	598;598;441	ENSP00000367177:R598C;ENSP00000341350:R598C	ENSP00000341350:R598C	R	-	1	0	PCDH8	52318781	0.889000	0.30405	0.989000	0.46669	0.883000	0.51084	1.021000	0.30040	0.293000	0.22520	-0.428000	0.05917	CGC		0.657	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		9	9	0	0	0	1	0	9	9				
BUB1B	701	broad.mit.edu	37	15	40462754	40462754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40462754G>T	ENST00000287598.6	+	4	451	c.256G>T	c.(256-258)Gag>Tag	p.E86*	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Nonsense_Mutation_p.E100*	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	86	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAGCTGGACAGAGCAGAACTA	0.373			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(256-258)Gag>Tag		BUB1 mitotic checkpoint serine/threonine kinase B							103.0	97.0	99.0					15																	40462754		2203	4300	6503	SO:0001587	stop_gained	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462754G>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.256G>T	15.37:g.40462754G>T	ENSP00000287598:p.Glu86*					BUB1B_ENST00000412359.3_Nonsense_Mutation_p.E100*|BUB1B_ENST00000560120.1_3'UTR	p.E86*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	4	451	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	86			BUB1 N-terminal.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Nonsense_Mutation	SNP	ENST00000287598.6	37	c.256G>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.485808	0.96323	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.2346	18.9468	0.92625	0.0:0.0:1.0:0.0	.	.	.	.	X	86;100;86	.	ENSP00000287598:E86X	E	+	1	0	BUB1B	38250046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.045000	0.71020	2.455000	0.83008	0.655000	0.94253	GAG		0.373	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			24	43	1	0	7.87624e-14	1	8.57347e-14	24	43				
ARID4B	51742	broad.mit.edu	37	1	235345271	235345271	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235345271G>T	ENST00000264183.3	-	20	3460	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Missense_Mutation_p.P988H|ARID4B_ENST00000349213.3_Missense_Mutation_p.P902H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	988					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTGACTGGAGGTGGTTTTTC	0.473																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2962-2964)cCt>cAt		AT rich interactive domain 4B (RBP1-like)							137.0	143.0	141.0					1																	235345271		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345271G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2963C>A	1.37:g.235345271G>T	ENSP00000264183:p.Pro988His					ARID4B_ENST00000366603.2_Missense_Mutation_p.P988H|ARID4B_ENST00000349213.3_Missense_Mutation_p.P902H	p.P988H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3460	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	988					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2963C>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.574|0.574	-0.839899|-0.839899	0.02692|0.02692	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.23348	.|1.91;1.92;1.92	5.1|5.1	-5.77|-5.77	0.02369|0.02369	.|.	.|1.761130	.|0.02436	.|N	.|0.084033	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;B;B	.|0.42649	.|0.786;0.504;0.373;0.118	.|B;B;B;B	.|0.44044	.|0.439;0.224;0.224;0.066	T|T	0.29610|0.29610	-1.0006|-1.0006	5|10	.|0.46703	.|T	.|0.11	6.9131|6.9131	12.7272|12.7272	0.57176|0.57176	0.789:0.0:0.109:0.102|0.789:0.0:0.109:0.102	.|.	.|669;988;902;988	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	I|H	388|988;902;988;988	.|ENSP00000264184:P902H;ENSP00000355562:P988H;ENSP00000264183:P988H	.|ENSP00000264183:P988H	L|P	-|-	1|2	0|0	ARID4B|ARID4B	233411894|233411894	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.084000|-0.084000	0.11268|0.11268	-1.076000|-1.076000	0.03125|0.03125	-0.237000|-0.237000	0.12165|0.12165	CTC|CCT		0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		19	122	1	0	3.62473e-10	1	3.8659e-10	19	122				
SLC9A6	10479	broad.mit.edu	37	X	135067782	135067782	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:135067782G>T	ENST00000370698.3	+	1	156	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	SLC9A6_ENST00000370695.4_Missense_Mutation_p.G41W|SLC9A6_ENST00000370701.1_5'UTR	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	41					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGACTGGGCAGGGGCTTCGGA	0.701																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(121-123)Ggg>Tgg		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							37.0	40.0	39.0					X																	135067782		2202	4298	6500	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067782G>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.121G>T	X.37:g.135067782G>T	ENSP00000359732:p.Gly41Trp					SLC9A6_ENST00000370698.3_Missense_Mutation_p.G41W|SLC9A6_ENST00000370701.1_5'UTR	p.G41W	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			1	156	+	Acute lymphoblastic leukemia(192;0.000127)		41					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.121G>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.658121	0.67586	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.57595	0.39;0.44	4.71	0.589	0.17452	.	1.150130	0.06385	N	0.715853	T	0.29976	0.0750	N	0.08118	0	0.42471	D	0.992825	B;B	0.27679	0.002;0.185	B;B	0.14023	0.002;0.01	T	0.02275	-1.1184	10	0.62326	D	0.03	.	5.7288	0.18028	0.1815:0.2925:0.526:0.0	.	41;41	Q92581-2;Q92581	.;SL9A6_HUMAN	W	41	ENSP00000359732:G41W;ENSP00000359729:G41W	ENSP00000359729:G41W	G	+	1	0	SLC9A6	134895448	0.000000	0.05858	0.953000	0.39169	0.977000	0.68977	-1.397000	0.02511	-0.362000	0.08113	0.373000	0.22412	GGG		0.701	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		22	5	1	0	3.01185e-09	1	3.19065e-09	22	5				
EIF3F	8665	broad.mit.edu	37	11	8013378	8013378	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8013378C>T	ENST00000533626.1	+	4	1041	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	EIF3F_ENST00000537635.1_Missense_Mutation_p.H154Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.H139Y|EIF3F_ENST00000449102.2_Intron					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGTGCCGCACAATGAGTC	0.498																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(415-417)Cac>Tac		eukaryotic translation initiation factor 3, subunit F							170.0	158.0	162.0					11																	8013378		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013378C>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.415C>T	11.37:g.8013378C>T	ENSP00000431800:p.His139Tyr					EIF3F_ENST00000537635.1_Missense_Mutation_p.H154Y|EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000309828.4_Missense_Mutation_p.H139Y	p.H139Y			O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	4	1041	+			139			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.415C>T	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399187	0.62177	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607	T;T;T	0.54866	0.55;0.55;0.55	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.70275	2.135	0.80722	D	1	B	0.26400	0.148	B	0.34590	0.186	T	0.61840	-0.6980	10	0.54805	T	0.06	-10.7365	15.2924	0.73875	0.0:1.0:0.0:0.0	.	139	O00303	EIF3F_HUMAN	Y	139;154;139;89	ENSP00000431800:H139Y;ENSP00000442283:H154Y;ENSP00000310040:H139Y	ENSP00000310040:H139Y	H	+	1	0	EIF3F	7969954	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.390000	0.79816	2.380000	0.81148	0.655000	0.94253	CAC		0.498	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		23	60	0	0	0	1	0	23	60				
MYRF	745	broad.mit.edu	37	11	61544762	61544762	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61544762C>T	ENST00000278836.5	+	12	1713	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000327797.1_Silent_p.S164S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S530S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	539					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTTCGAGAGCGACAGCGATG	0.672																																						ENST00000278836.5																			0											c.(1615-1617)agC>agT		myelin regulatory factor							50.0	47.0	48.0					11																	61544762		2202	4297	6499	SO:0001819	synonymous_variant	745							g.chr11:61544762C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1617C>T	11.37:g.61544762C>T						TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S530S|MYRF_ENST00000327797.1_Silent_p.S164S	p.S539S	NM_001127392.1	NP_001120864.1					12	1713	+								O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1617C>T	CCDS44622.1																																																																																				0.672	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		14	23	0	0	0	1	0	14	23				
CHD9	80205	broad.mit.edu	37	16	53337810	53337810	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:53337810C>T	ENST00000398510.3	+	30	5979	c.5892C>T	c.(5890-5892)ggC>ggT	p.G1964G	CHD9_ENST00000564845.1_Silent_p.G1964G|CHD9_ENST00000566029.1_Silent_p.G1964G|CHD9_ENST00000447540.1_Silent_p.G1964G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1964					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGGAATGTGGCCCTCATGATA	0.483																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5890-5892)ggC>ggT		chromodomain helicase DNA binding protein 9							97.0	96.0	96.0					16																	53337810		1970	4161	6131	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337810C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5892C>T	16.37:g.53337810C>T						CHD9_ENST00000398510.3_Silent_p.G1964G|CHD9_ENST00000564845.1_Silent_p.G1964G|CHD9_ENST00000447540.1_Silent_p.G1964G	p.G1964G			Q3L8U1	CHD9_HUMAN			31	6101	+		all_cancers(37;0.0212)	1964					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.5892C>T																																																																																					0.483	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		22	31	0	0	0	1	0	22	31				
ZNF319	57567	broad.mit.edu	37	16	58030521	58030521	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58030521C>T	ENST00000299237.2	-	2	2271	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GTCTAGGAAGCGCTCCCCGCA	0.672																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1648-1650)cGc>cAc		zinc finger protein 319							34.0	28.0	30.0					16																	58030521		2198	4300	6498	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030521C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1649G>A	16.37:g.58030521C>T	ENSP00000299237:p.Arg550His						p.R550H	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	2271	-			550					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1649G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781829	0.70222	.	.	ENSG00000166188	ENST00000299237	T	0.07567	3.18	5.07	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062948	0.64402	D	0.000006	T	0.24160	0.0585	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.63033	0.91	T	0.01149	-1.1436	10	0.87932	D	0	-41.2156	13.9062	0.63836	0.1534:0.8466:0.0:0.0	.	550	Q9P2F9	ZN319_HUMAN	H	550	ENSP00000299237:R550H	ENSP00000299237:R550H	R	-	2	0	ZNF319	56588022	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.053000	0.71089	1.098000	0.41479	0.561000	0.74099	CGC		0.672	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			11	15	0	0	0	1	0	11	15				
EGFLAM	133584	broad.mit.edu	37	5	38407051	38407051	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38407051C>A	ENST00000354891.3	+	8	1296	c.950C>A	c.(949-951)cCt>cAt	p.P317H	EGFLAM_ENST00000322350.5_Missense_Mutation_p.P317H|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P83H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	317					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCATCTCTCCCTGTGACCACG	0.473																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(949-951)cCt>cAt		EGF-like, fibronectin type III and laminin G domains							151.0	144.0	146.0					5																	38407051		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407051C>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.950C>A	5.37:g.38407051C>A	ENSP00000346964:p.Pro317His					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P83H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.P317H	p.P317H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1296	+	all_lung(31;0.000385)		317					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.950C>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076340	0.36662	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.80123	0.78;0.62;-1.34	5.69	2.8	0.32819	.	0.775846	0.12541	N	0.459937	T	0.69351	0.3101	L	0.36672	1.1	0.20403	N	0.999902	B;B;B	0.17038	0.001;0.001;0.02	B;B;B	0.15870	0.001;0.001;0.014	T	0.54370	-0.8304	10	0.26408	T	0.33	-6.1432	7.8223	0.29294	0.122:0.6947:0.1177:0.0656	.	83;317;317	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	317;317;83;83	ENSP00000346964:P317H;ENSP00000313084:P317H;ENSP00000337607:P83H	ENSP00000313084:P317H	P	+	2	0	EGFLAM	38442808	0.007000	0.16637	0.343000	0.25615	0.131000	0.20780	2.277000	0.43417	0.685000	0.31468	0.655000	0.94253	CCT		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		23	50	1	0	1.10923e-09	1	1.18008e-09	23	50				
ATP2B1	490	broad.mit.edu	37	12	90049658	90049658	+	Silent	SNP	G	G	A	rs199899576		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:90049658G>A	ENST00000428670.3	-	2	462	c.6C>T	c.(4-6)ggC>ggT	p.G2G	ATP2B1_ENST00000261173.2_Silent_p.G2G|ATP2B1_ENST00000348959.3_Silent_p.G2G|ATP2B1_ENST00000359142.3_Silent_p.G2G			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	2					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G2G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGCCATGTCGCCCATTACAA	0.358																																						ENST00000428670.3																			1	Substitution - coding silent(1)	p.G2G(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(4-6)ggC>ggT		ATPase, Ca++ transporting, plasma membrane 1		G	,	0,4406		0,0,2203	72.0	78.0	76.0		6,6	2.8	1.0	12		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ATP2B1	NM_001001323.1,NM_001682.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	2/1177,2/1221	90049658	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90049658G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.6C>T	12.37:g.90049658G>A						ATP2B1_ENST00000261173.2_Silent_p.G2G|ATP2B1_ENST00000359142.3_Silent_p.G2G|ATP2B1_ENST00000348959.3_Silent_p.G2G	p.G2G			P20020	AT2B1_HUMAN			2	462	-			2					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.6C>T	CCDS9035.1																																																																																				0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		20	26	0	0	0	1	0	20	26				
SCARB1	949	broad.mit.edu	37	12	125267257	125267257	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125267257C>T	ENST00000415380.2	-	11	1777				SCARB1_ENST00000546215.1_Missense_Mutation_p.G473D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G401D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G501D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000339570.5_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGCACAGAGCCCTTGGGAGC	0.498																																						ENST00000261693.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1501-1503)gGc>gAc		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						111.0	106.0	108.0					12																	125267257		2203	4300	6503	SO:0001627	intron_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125267257C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3395G>A	12.37:g.125267257C>T						SCARB1_ENST00000546215.1_Missense_Mutation_p.G473D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.G401D|SCARB1_ENST00000339570.5_Intron	p.G501D	NM_005505.4	NP_005496.4	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	12	1628	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.1502G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571524	0.86542	.	.	ENSG00000073060	ENST00000261693;ENST00000376788;ENST00000546215	T;T;T	0.67171	0.09;-0.15;-0.25	5.18	5.18	0.71444	.	2.631330	0.01667	N	0.025424	D	0.84365	0.5456	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66948	-0.5794	10	0.49607	T	0.09	-24.1698	15.6156	0.76764	0.0:1.0:0.0:0.0	.	473;501	B7ZKQ9;Q8WTV0-2	.;.	D	501;401;473	ENSP00000261693:G501D;ENSP00000365984:G401D;ENSP00000442862:G473D	ENSP00000261693:G501D	G	-	2	0	SCARB1	123833210	0.994000	0.37717	0.965000	0.40720	0.996000	0.88848	4.098000	0.57748	2.422000	0.82143	0.561000	0.74099	GGC		0.498	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		17	28	0	0	0	1	0	17	28				
MNDA	4332	broad.mit.edu	37	1	158813813	158813813	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158813813G>A	ENST00000368141.4	+	4	732	c.471G>A	c.(469-471)aaG>aaA	p.K157K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	157					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGCAGAGTAAGCCCCCAGGTC	0.468																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(469-471)aaG>aaA		myeloid cell nuclear differentiation antigen							207.0	175.0	186.0					1																	158813813		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813813G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.471G>A	1.37:g.158813813G>A							p.K157K	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			4	732	+	all_hematologic(112;0.0378)		157						Silent	SNP	ENST00000368141.4	37	c.471G>A	CCDS1177.1																																																																																				0.468	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		27	50	0	0	0	1	0	27	50				
ZDHHC5	25921	broad.mit.edu	37	11	57466485	57466485	+	Missense_Mutation	SNP	G	G	A	rs145781238		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57466485G>A	ENST00000287169.3	+	11	2939	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R473Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	526					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCAACACACCGAGAGCCCTCA	0.617																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1576-1578)cGa>cAa		zinc finger, DHHC-type containing 5							65.0	64.0	64.0					11																	57466485		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466485G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1577G>A	11.37:g.57466485G>A	ENSP00000287169:p.Arg526Gln					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R473Q	p.R526Q	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2939	+			526					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1577G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158661	0.38119	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.63096	-0.02;0.98	5.17	4.26	0.50523	.	0.693728	0.14446	N	0.319073	T	0.67552	0.2905	L	0.49778	1.585	0.36469	D	0.867122	D	0.65815	0.995	P	0.54060	0.741	T	0.72097	-0.4393	10	0.46703	T	0.11	-2.3426	13.343	0.60555	0.0765:0.0:0.9235:0.0	.	526	Q9C0B5	ZDHC5_HUMAN	Q	473;526	ENSP00000432202:R473Q;ENSP00000287169:R526Q	ENSP00000287169:R526Q	R	+	2	0	ZDHHC5	57223061	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	4.915000	0.63355	1.410000	0.46936	0.563000	0.77884	CGA		0.617	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		19	33	0	0	0	1	0	19	33				
ZNF675	171392	broad.mit.edu	37	19	23836705	23836705	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:23836705C>T	ENST00000359788.4	-	4	1198	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	344					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTCCACATTCTTCACATTTG	0.388																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1030-1032)Gaa>Aaa		zinc finger protein 675							51.0	53.0	52.0					19																	23836705		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836705C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1030G>A	19.37:g.23836705C>T	ENSP00000352836:p.Glu344Lys					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	p.E344K	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1198	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	344					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1030G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	6.387	0.439535	0.12104	.	.	ENSG00000197372	ENST00000359788	T	0.07327	3.2	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	L	0.34521	1.04	0.09310	N	1	P	0.49961	0.93	P	0.54372	0.75	T	0.21484	-1.0244	9	0.52906	T	0.07	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	344	Q8TD23	ZN675_HUMAN	K	344	ENSP00000352836:E344K	ENSP00000352836:E344K	E	-	1	0	ZNF675	23628545	0.000000	0.05858	0.458000	0.27068	0.457000	0.32468	-0.511000	0.06321	0.300000	0.22699	0.305000	0.20034	GAA		0.388	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		17	49	0	0	0	1	0	17	49				
MTBP	27085	broad.mit.edu	37	8	121528227	121528227	+	Missense_Mutation	SNP	G	G	A	rs143250160		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:121528227G>A	ENST00000305949.1	+	18	2087	c.2042G>A	c.(2041-2043)cGt>cAt	p.R681H		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	681	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTTCAGTCTCGTCTTATTCGT	0.403																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2041-2043)cGt>cAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa		G	HIS/ARG	0,4406		0,0,2203	121.0	116.0	118.0		2042	5.2	1.0	8	dbSNP_134	118	1,8597	1.2+/-3.3	0,1,4298	no	missense	MTBP	NM_022045.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	681/905	121528227	1,13003	2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528227G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2042G>A	8.37:g.121528227G>A	ENSP00000303398:p.Arg681His						p.R681H	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2087	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		681			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2042G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933268	0.92458	0.0	1.16E-4	ENSG00000172167	ENST00000305949	.	.	.	6.07	5.2	0.72013	.	0.053759	0.85682	N	0.000000	T	0.61350	0.2340	M	0.74258	2.255	0.80722	D	1	P	0.36048	0.534	B	0.28991	0.097	T	0.66720	-0.5852	9	0.72032	D	0.01	-13.5495	15.145	0.72643	0.0671:0.0:0.9329:0.0	.	681	Q96DY7	MTBP_HUMAN	H	681	.	ENSP00000303398:R681H	R	+	2	0	MTBP	121597408	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.856000	0.92245	1.582000	0.49881	0.655000	0.94253	CGT		0.403	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		33	53	0	0	0	1	0	33	53				
SKIDA1	387640	broad.mit.edu	37	10	21804455	21804455	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:21804455G>A	ENST00000449193.2	-	4	4549	c.2297C>T	c.(2296-2298)cCt>cTt	p.P766L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.P687L	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	685						nucleus (GO:0005634)											CCCATCCTCAGGTTTTGGAGA	0.463																																						ENST00000449193.2																			0											c.(2296-2298)cCt>cTt		SKI/DACH domain containing 1							122.0	115.0	118.0					10																	21804455		1834	4082	5916	SO:0001583	missense	387640							g.chr10:21804455G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2297C>T	10.37:g.21804455G>A	ENSP00000410041:p.Pro766Leu					SKIDA1_ENST00000444772.3_Missense_Mutation_p.P687L	p.P766L	NM_207371.3	NP_997254.3					4	4549	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2297C>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834106	0.50951	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.87	5.87	0.94306	.	0.250644	0.39834	N	0.001241	T	0.49150	0.1540	L	0.34521	1.04	0.52501	D	0.999956	P	0.34864	0.473	B	0.28553	0.091	T	0.52808	-0.8526	9	0.87932	D	0	-5.4704	19.5705	0.95413	0.0:0.0:1.0:0.0	.	766	E9PAX1	.	L	766;687	.	ENSP00000442432:P687L	P	-	2	0	C10orf140	21844461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.537000	0.53590	2.941000	0.99782	0.655000	0.94253	CCT		0.463	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		52	70	0	0	0	1	0	52	70				
CIT	11113	broad.mit.edu	37	12	120189920	120189920	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120189920G>A	ENST00000261833.7	-	22	2765	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	CIT_ENST00000392521.2_Missense_Mutation_p.R947C|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	905					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCGCCTGGCGAAGCTGGCTC	0.607																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2839-2841)Cgc>Tgc		citron (rho-interacting, serine/threonine kinase 21)							51.0	48.0	49.0					12																	120189920		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120189920G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2713C>T	12.37:g.120189920G>A	ENSP00000261833:p.Arg905Cys					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R905C	p.R947C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2894	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	905					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2839C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901375	0.72754	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.68025	-0.19;-0.3	5.41	4.51	0.55191	.	0.129206	0.56097	D	0.000040	T	0.51312	0.1667	N	0.08118	0	0.58432	D	0.999995	D;P;D	0.65815	0.995;0.946;0.968	B;B;B	0.44315	0.446;0.249;0.431	T	0.62364	-0.6870	10	0.72032	D	0.01	.	16.1033	0.81203	0.0:0.1343:0.8657:0.0	.	947;905;438	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	C	947;905	ENSP00000376306:R947C;ENSP00000261833:R905C	ENSP00000261833:R905C	R	-	1	0	CIT	118674303	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	6.431000	0.73395	1.255000	0.44051	-0.181000	0.13052	CGC		0.607	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		9	23	0	0	0	1	0	9	23				
CATSPER3	347732	broad.mit.edu	37	5	134332150	134332150	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:134332150G>A	ENST00000282611.6	+	3	526	c.440G>A	c.(439-441)gGc>gAc	p.G147D		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	147					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCGCTGATGGCATGCAGTCC	0.547																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(439-441)gGc>gAc		cation channel, sperm associated 3							132.0	115.0	121.0					5																	134332150		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134332150G>A	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.440G>A	5.37:g.134332150G>A	ENSP00000282611:p.Gly147Asp						p.G147D	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	526	+			147					Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.440G>A	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715348	0.68844	.	.	ENSG00000152705	ENST00000282611	D	0.98437	-4.93	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.53938	D	0.000054	D	0.98134	0.9384	L	0.51422	1.61	0.20074	N	0.999933	D	0.89917	1.0	D	0.97110	1.0	D	0.93608	0.6936	10	0.52906	T	0.07	-25.0035	12.2204	0.54431	0.0:0.0:1.0:0.0	.	147	Q86XQ3	CTSR3_HUMAN	D	147	ENSP00000282611:G147D	ENSP00000282611:G147D	G	+	2	0	CATSPER3	134360049	0.995000	0.38212	0.152000	0.22495	0.339000	0.28857	4.641000	0.61375	2.587000	0.87381	0.561000	0.74099	GGC		0.547	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		16	30	0	0	0	1	0	16	30				
GRM6	2916	broad.mit.edu	37	5	178413417	178413417	+	Missense_Mutation	SNP	G	G	A	rs61733044	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:178413417G>A	ENST00000517717.1	-	9	1876	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	GRM6_ENST00000231188.5_Missense_Mutation_p.T613M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GACGATGGGCGTGTTGTTGTA	0.672																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1837-1839)aCg>aTg		glutamate receptor, metabotropic 6		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	36.0	34.0	35.0		1838	5.0	0.8	5	dbSNP_129	35	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GRM6	NM_000843.3	81	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	probably-damaging	613/878	178413417	6,13000	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413417G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1838C>T	5.37:g.178413417G>A	ENSP00000430767:p.Thr613Met					GRM6_ENST00000517717.1_Missense_Mutation_p.T613M|RP11-281O15.4_ENST00000519491.1_RNA	p.T613M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2016	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	613						Missense_Mutation	SNP	ENST00000517717.1	37	c.1838C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998623	0.74818	6.81E-4	3.49E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90844	-2.74;-2.74	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96503	0.8859	M	0.93462	3.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97445	1.0024	9	0.87932	D	0	.	16.2011	0.82078	0.0:0.0:1.0:0.0	.	769;613	E7EX65;O15303	.;GRM6_HUMAN	M	769;613;613	ENSP00000231188:T613M;ENSP00000430767:T613M	ENSP00000231188:T613M	T	-	2	0	GRM6	178346023	1.000000	0.71417	0.750000	0.31169	0.515000	0.34225	9.661000	0.98601	2.495000	0.84180	0.462000	0.41574	ACG		0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			8	15	0	0	0	1	0	8	15				
VDR	7421	broad.mit.edu	37	12	48258928	48258928	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48258928C>T	ENST00000395324.2	-	4	447	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	VDR_ENST00000549336.1_Missense_Mutation_p.C60Y|VDR_ENST00000535672.1_Missense_Mutation_p.C28Y|VDR_ENST00000229022.3_Missense_Mutation_p.C60Y|VDR_ENST00000550325.1_Missense_Mutation_p.C110Y			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	60					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTGAAGGGGCAGGTGAATAG	0.612																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(178-180)tGc>tAc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						137.0	105.0	116.0					12																	48258928		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48258928C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.179G>A	12.37:g.48258928C>T	ENSP00000378734:p.Cys60Tyr					VDR_ENST00000535672.1_Missense_Mutation_p.C28Y|VDR_ENST00000395324.2_Missense_Mutation_p.C60Y|VDR_ENST00000549336.1_Missense_Mutation_p.C60Y|VDR_ENST00000550325.1_Missense_Mutation_p.C110Y	p.C60Y	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	5	460	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	60					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.179G>A	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025924	0.93518	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D;D	0.99167	-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51;-5.51	6.02	6.02	0.97574	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.190788	0.56097	D	0.000021	D	0.99648	0.9870	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97700	1.0184	10	0.87932	D	0	.	19.1045	0.93287	0.0:1.0:0.0:0.0	.	28;60;110	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	Y	60;60;60;110;28;60;60;60	ENSP00000378734:C60Y;ENSP00000229022:C60Y;ENSP00000449573:C60Y;ENSP00000447173:C110Y;ENSP00000442145:C28Y;ENSP00000448659:C60Y;ENSP00000449561:C60Y;ENSP00000450105:C60Y	ENSP00000229022:C60Y	C	-	2	0	VDR	46545195	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.703000	0.84585	2.865000	0.98341	0.655000	0.94253	TGC		0.612	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			19	47	0	0	0	1	0	19	47				
CDK1	983	broad.mit.edu	37	10	62544621	62544621	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:62544621T>C	ENST00000395284.3	+	3	336		c.e3+2		CDK1_ENST00000373809.2_Splice_Site|CDK1_ENST00000448257.2_Splice_Site|CDK1_ENST00000316629.4_Splice_Site	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						TATAGTCAGGTATGTTGTAAT	0.338																																						ENST00000448257.2																			0				ovary(1)	1						c.e3+2		cyclin-dependent kinase 1							84.0	85.0	84.0					10																	62544621		2203	4300	6503	SO:0001630	splice_region_variant	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62544621T>C	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.194+2T>C	10.37:g.62544621T>C						CDK1_ENST00000316629.4_Splice_Site|CDK1_ENST00000395284.3_Splice_Site|CDK1_ENST00000373809.2_Splice_Site				P06493	CDK1_HUMAN			3	395	+								A8K7C4|C9J497|O60764	Splice_Site	SNP	ENST00000395284.3	37		CCDS44408.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858025	0.71834	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK1	62214627	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.525000	0.81892	2.291000	0.77112	0.533000	0.62120	.		0.338	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786	Intron	21	33	0	0	0	1	0	21	33				
ESPL1	9700	broad.mit.edu	37	12	53680240	53680240	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53680240C>T	ENST00000257934.4	+	18	3811	c.3720C>T	c.(3718-3720)aaC>aaT	p.N1240N	ESPL1_ENST00000552462.1_Silent_p.N1240N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1240					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGCCATCAAACGAGAGCCTGC	0.552																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3718-3720)aaC>aaT		extra spindle pole bodies homolog 1 (S. cerevisiae)							98.0	107.0	104.0					12																	53680240		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680240C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3720C>T	12.37:g.53680240C>T						ESPL1_ENST00000552462.1_Silent_p.N1240N	p.N1240N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	3811	+			1240						Silent	SNP	ENST00000257934.4	37	c.3720C>T	CCDS8852.1																																																																																				0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		35	54	0	0	0	1	0	35	54				
ANO1	55107	broad.mit.edu	37	11	70031740	70031740	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70031740A>G	ENST00000355303.5	+	25	2938	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	ANO1_ENST00000531349.1_Missense_Mutation_p.D587G|ANO1_ENST00000530676.1_Missense_Mutation_p.D732G|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.D732G|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000538023.1_Missense_Mutation_p.D878G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AACAAGTACGACATCTCCAAG	0.592																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2632-2634)gAc>gGc		anoctamin 1, calcium activated chloride channel							104.0	116.0	112.0					11																	70031740		1947	4138	6085	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031740A>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2633A>G	11.37:g.70031740A>G	ENSP00000347454:p.Asp878Gly					ANO1_ENST00000398543.2_Missense_Mutation_p.D732G|ANO1_ENST00000530676.1_Missense_Mutation_p.D732G|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Missense_Mutation_p.D587G|ANO1_ENST00000538023.1_Missense_Mutation_p.D878G	p.D878G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			25	2938	+			878					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2633A>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092117	0.55968	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.70631	-0.05;-0.15;-0.5;-0.5;-0.19	5.27	5.27	0.74061	.	0.156962	0.56097	D	0.000035	T	0.60907	0.2305	N	0.20401	0.57	0.53688	D	0.999978	B;P	0.42161	0.242;0.772	B;B	0.44044	0.232;0.439	T	0.60234	-0.7303	9	.	.	.	.	15.1903	0.73038	1.0:0.0:0.0:0.0	.	587;878	E9PNA7;Q5XXA6	.;ANO1_HUMAN	G	878;878;732;636;732;587;205	ENSP00000347454:D878G;ENSP00000444689:D878G;ENSP00000381551:D732G;ENSP00000435797:D732G;ENSP00000432843:D587G	.	D	+	2	0	ANO1	69709388	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.637000	0.74304	1.990000	0.58119	0.533000	0.62120	GAC		0.592	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	31	0	0	0	1	0	6	31				
PGM5	5239	broad.mit.edu	37	9	71002484	71002484	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:71002484G>A	ENST00000396396.1	+	4	906	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PGM5_ENST00000396392.1_Missense_Mutation_p.R226H|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	226					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTGAAGATTCGCATTGACGCA	0.468																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(676-678)cGc>cAc		phosphoglucomutase 5							111.0	95.0	101.0					9																	71002484		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71002484G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.677G>A	9.37:g.71002484G>A	ENSP00000379678:p.Arg226His					PGM5_ENST00000396392.1_Missense_Mutation_p.R226H|PGM5_ENST00000604870.2_3'UTR	p.R226H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			4	906	+			226					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.677G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	9.345	1.063939	0.20067	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62639	0.01;0.01;0.01	5.03	5.03	0.67393	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.060197	0.64402	U	0.000009	T	0.54481	0.1861	L	0.56340	1.77	0.58432	D	0.999993	P	0.37441	0.595	B	0.31812	0.136	T	0.54282	-0.8317	10	0.15066	T	0.55	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	226	Q15124	PGM5_HUMAN	H	226;226;177;143	ENSP00000379678:R226H;ENSP00000379674:R226H;ENSP00000394864:R143H	ENSP00000366531:R177H	R	+	2	0	PGM5	70192304	1.000000	0.71417	0.918000	0.36340	0.513000	0.34164	6.261000	0.72509	2.330000	0.79161	0.466000	0.42574	CGC		0.468	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		18	28	0	0	0	1	0	18	28				
VANGL2	57216	broad.mit.edu	37	1	160395031	160395031	+	Missense_Mutation	SNP	G	G	A	rs372488057		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160395031G>A	ENST00000368061.2	+	8	1903	c.1429G>A	c.(1429-1431)Gtt>Att	p.V477I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	477					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGCATCGTTTTCCTCTT	0.542																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1429-1431)Gtt>Att		VANGL planar cell polarity protein 2							93.0	80.0	85.0					1																	160395031		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395031G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1429G>A	1.37:g.160395031G>A	ENSP00000357040:p.Val477Ile						p.V477I	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1903	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		477					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1429G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083954	0.55861	.	.	ENSG00000162738	ENST00000368061	T	0.81163	-1.46	4.17	3.26	0.37387	.	0.157867	0.41823	D	0.000819	T	0.79569	0.4468	L	0.54908	1.71	0.45108	D	0.998126	D	0.76494	0.999	D	0.74674	0.984	T	0.76526	-0.2927	10	0.20519	T	0.43	-1.2186	12.1885	0.54254	0.0:0.0:0.8274:0.1726	.	477	Q9ULK5	VANG2_HUMAN	I	477	ENSP00000357040:V477I	ENSP00000357040:V477I	V	+	1	0	VANGL2	158661655	1.000000	0.71417	0.943000	0.38184	0.910000	0.53928	7.703000	0.84585	0.946000	0.37632	-0.188000	0.12872	GTT		0.542	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		19	24	0	0	0	1	0	19	24				
ANK3	288	broad.mit.edu	37	10	61844449	61844449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61844449G>A	ENST00000280772.2	-	32	4176	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1330*|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1323*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R463*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1329	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R463*(1)|p.R964*(1)|p.R1329*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGAAACATCGCAAGGAAGAT	0.403																																						ENST00000280772.1																			3	Substitution - Nonsense(3)	p.R463*(1)|p.R964*(1)|p.R1329*(1)	endometrium(3)	NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3985-3987)Cga>Tga		ankyrin 3, node of Ranvier (ankyrin G)							141.0	136.0	138.0					10																	61844449		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844449G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3985C>T	10.37:g.61844449G>A	ENSP00000280772:p.Arg1329*					ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1323*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1330*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R463*	p.R1329*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			32	4176	-			1329					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.3985C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	44	11.122221	0.99518	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.	.	.	6.04	0.405	0.16361	.	0.000000	0.36134	N	0.002771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9656	0.86285	0.0:0.0:0.4133:0.5867	.	.	.	.	X	1329;1323;463;463;1330;1309;564;964;964;462;862	.	ENSP00000280772:R1329X	R	-	1	2	ANK3	61514455	1.000000	0.71417	0.847000	0.33407	0.761000	0.43186	2.366000	0.44204	-0.179000	0.10654	-0.268000	0.10319	CGA		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		60	73	0	0	0	1	0	60	73				
IL24	11009	broad.mit.edu	37	1	207073659	207073659	+	Missense_Mutation	SNP	C	C	T	rs144126009		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207073659C>T	ENST00000294984.2	+	4	534	c.260C>T	c.(259-261)aCg>aTg	p.T87M	IL24_ENST00000367093.3_Missense_Mutation_p.T88M|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.T88M	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	87					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GATAACATCACGAGTGCCCGG	0.542																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(262-264)aCg>aTg		interleukin 24		C	MET/THR,MET/THR,stop/ARG,MET/THR	1,4405	2.1+/-5.4	0,1,2202	68.0	64.0	65.0		263,263,64,260	0.4	0.0	1	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,stop-gained,missense	IL24	NM_001185156.1,NM_001185157.1,NM_001185158.1,NM_006850.3	81,81,,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging	88/208,88/155,22/64,87/207	207073659	1,13005	2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207073659C>T	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.260C>T	1.37:g.207073659C>T	ENSP00000294984:p.Thr87Met					IL24_ENST00000294984.2_Missense_Mutation_p.T87M|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.T88M	p.T88M	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			4	537	+	Breast(84;0.201)		87					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.263C>T	CCDS1471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.086|8.086	0.773359|0.773359	0.16051|0.16051	2.27E-4|2.27E-4	0.0|0.0	ENSG00000162892|ENSG00000162892	ENST00000480741|ENST00000391929;ENST00000294984;ENST00000367093	.|T;T;T	.|0.18657	.|2.2;2.2;2.2	4.3|4.3	0.365|0.365	0.16131|0.16131	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.515737	.|0.20794	.|N	.|0.085568	.|T	.|0.11537	.|0.0281	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30741	.|0.223;0.293;0.103	.|B;B;B	.|0.24701	.|0.055;0.027;0.027	.|T	.|0.17992	.|-1.0351	.|9	0.87932|0.36615	D|T	0|0.2	.|.	5.8157|5.8157	0.18492|0.18492	0.0:0.5824:0.146:0.2716|0.0:0.5824:0.146:0.2716	.|.	.|88;88;87	.|Q2YHE5;Q53XZ7;Q13007	.|.;.;IL24_HUMAN	X|M	22|88;87;88	.|ENSP00000375795:T88M;ENSP00000294984:T87M;ENSP00000356060:T88M	ENSP00000356062:R22X|ENSP00000294984:T87M	R|T	+|+	1|2	2|0	IL24|IL24	205140282|205140282	0.071000|0.071000	0.21146|0.21146	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.544000|0.544000	0.23253|0.23253	-0.359000|-0.359000	0.08150|0.08150	-1.268000|-1.268000	0.01426|0.01426	CGA|ACG		0.542	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		24	39	0	0	0	1	0	24	39				
PDIA3	2923	broad.mit.edu	37	15	44063404	44063404	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:44063404G>T	ENST00000300289.5	+	13	1654	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_Missense_Mutation_p.Q482H	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	502					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAAGGCACAGGAGGATCTCT	0.423																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(1504-1506)caG>caT		protein disulfide isomerase family A, member 3							33.0	32.0	32.0					15																	44063404		2186	4291	6477	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44063404G>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1506G>T	15.37:g.44063404G>T	ENSP00000300289:p.Gln502His					PDIA3_ENST00000538521.1_Missense_Mutation_p.Q482H	p.Q502H	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	13	1654	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	502					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.1506G>T	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924804	0.73213	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.04049	3.72;3.83	6.17	5.05	0.67936	.	0.140844	0.64402	D	0.000005	T	0.03220	0.0094	N	0.08118	0	0.42758	D	0.993799	B;B	0.33379	0.25;0.41	B;B	0.31547	0.132;0.094	T	0.56312	-0.8000	10	0.46703	T	0.11	.	12.869	0.57955	0.0973:0.0:0.9027:0.0	.	482;502	G5EA52;P30101	.;PDIA3_HUMAN	H	502;477;276;482	ENSP00000300289:Q502H;ENSP00000438260:Q482H	ENSP00000300289:Q502H	Q	+	3	2	PDIA3	41850696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.361000	0.44160	1.277000	0.44412	0.655000	0.94253	CAG		0.423	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		26	33	1	0	2.12542e-12	1	2.29988e-12	26	33				
TNFRSF1A	7132	broad.mit.edu	37	12	6438599	6438599	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6438599G>A	ENST00000162749.2	-	10	1546	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.A373V|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	416	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CTCCAGCGTGGCCTCGCGCCG	0.731																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1246-1248)gCc>gTc		tumor necrosis factor receptor superfamily, member 1A																																				SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438599G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1247C>T	12.37:g.6438599G>A	ENSP00000162749:p.Ala416Val					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.A373V	p.A416V	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1546	-			416			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1247C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602591	0.87157	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.89343	-2.5;-2.5	4.88	2.95	0.34219	Death (3);DEATH-like (2);	1.476790	0.04128	N	0.317402	D	0.94321	0.8175	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.967;0.993	D	0.83535	0.0093	10	0.59425	D	0.04	-24.2475	11.873	0.52531	0.0:0.0:0.6844:0.3155	.	373;416	F5H061;P19438	.;TNR1A_HUMAN	V	416;373	ENSP00000162749:A416V;ENSP00000438343:A373V	ENSP00000162749:A416V	A	-	2	0	TNFRSF1A	6308860	0.981000	0.34729	0.993000	0.49108	0.988000	0.76386	2.068000	0.41471	0.507000	0.28148	0.561000	0.74099	GCC		0.731	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		4	6	0	0	0	1	0	4	6				
TUB	7275	broad.mit.edu	37	11	8115637	8115637	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:8115637C>T	ENST00000299506.2	+	4	447	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	TUB_ENST00000534099.1_Missense_Mutation_p.R106C|TUB_ENST00000305253.4_Missense_Mutation_p.R155C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	100					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGAGCCACGCGCCCAACAGC	0.607																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(463-465)Cgc>Tgc		tubby bipartite transcription factor							59.0	59.0	59.0					11																	8115637		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8115637C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.298C>T	11.37:g.8115637C>T	ENSP00000299506:p.Arg100Cys					TUB_ENST00000299506.2_Missense_Mutation_p.R100C|TUB_ENST00000534099.1_Missense_Mutation_p.R106C	p.R155C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	5	704	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	100					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.463C>T	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669878	0.29693	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86030	-2.04;-2.06;-2.03	4.71	3.8	0.43715	Tubby, N-terminal (1);	0.842379	0.10963	N	0.614787	T	0.68476	0.3005	N	0.08118	0	0.37657	D	0.922644	P;B;P	0.40931	0.733;0.431;0.566	B;B;B	0.33042	0.075;0.075;0.157	T	0.68450	-0.5405	10	0.48119	T	0.1	-19.3019	9.4538	0.38743	0.0:0.8978:0.0:0.1022	.	106;100;155	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	106;155;100	ENSP00000434400:R106C;ENSP00000305426:R155C;ENSP00000299506:R100C	ENSP00000299506:R100C	R	+	1	0	TUB	8072213	0.164000	0.22935	0.853000	0.33588	0.297000	0.27493	1.699000	0.37804	1.298000	0.44778	0.591000	0.81541	CGC		0.607	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		5	15	0	0	0	1	0	5	15				
DCST1	149095	broad.mit.edu	37	1	155014322	155014322	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155014322G>A	ENST00000295542.1	+	8	977	c.881G>A	c.(880-882)gGc>gAc	p.G294D	DCST1_ENST00000392480.1_Missense_Mutation_p.G294D|DCST1_ENST00000368419.2_Missense_Mutation_p.G294D|DCST1_ENST00000423025.2_Missense_Mutation_p.G269D	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	294						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTCTTCTGTGGCATTGCCAAG	0.562																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(880-882)gGc>gAc		DC-STAMP domain containing 1							96.0	73.0	81.0					1																	155014322		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014322G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.881G>A	1.37:g.155014322G>A	ENSP00000295542:p.Gly294Asp					DCST1_ENST00000423025.2_Missense_Mutation_p.G269D|DCST1_ENST00000392480.1_Missense_Mutation_p.G294D|DCST1_ENST00000368419.2_Missense_Mutation_p.G294D	p.G294D	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	977	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		294					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.881G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.439040	0.12104	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.88	-1.6	0.08426	.	0.842297	0.10564	N	0.659984	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.19706	0.008;0.038;0.008	B;B;B	0.09377	0.002;0.004;0.002	T	0.35871	-0.9771	10	0.10111	T	0.7	-3.3686	9.9772	0.41791	0.6205:0.0:0.3795:0.0	.	269;319;294	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	D	294;294;269;294	ENSP00000295542:G294D;ENSP00000376271:G294D;ENSP00000387369:G269D;ENSP00000357404:G294D	ENSP00000295542:G294D	G	+	2	0	DCST1	153280946	0.039000	0.19947	0.025000	0.17156	0.918000	0.54935	0.185000	0.16958	-0.200000	0.10300	-0.253000	0.11424	GGC		0.562	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		29	32	0	0	0	1	0	29	32				
EPHB1	2047	broad.mit.edu	37	3	134670843	134670843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:134670843C>T	ENST00000398015.3	+	3	1124	c.754C>T	c.(754-756)Cga>Tga	p.R252*	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	252	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTATTGGGCGATGCACCTG	0.582																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(754-756)Cga>Tga		EPH receptor B1							153.0	149.0	151.0					3																	134670843		2129	4267	6396	SO:0001587	stop_gained	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670843C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.754C>T	3.37:g.134670843C>T	ENSP00000381097:p.Arg252*					EPHB1_ENST00000488154.1_Intron	p.R252*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1124	+			252			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	ENST00000398015.3	37	c.754C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	37	6.440223	0.97568	.	.	ENSG00000154928	ENST00000398015	.	.	.	5.6	5.6	0.85130	.	0.119694	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.461	0.67450	0.1471:0.8529:0.0:0.0	.	.	.	.	X	252	.	.	R	+	1	2	EPHB1	136153533	0.988000	0.35896	0.996000	0.52242	0.911000	0.54048	2.706000	0.47135	2.648000	0.89879	0.462000	0.41574	CGA		0.582	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		15	86	0	0	0	1	0	15	86				
ANK1	286	broad.mit.edu	37	8	41583417	41583417	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41583417G>A	ENST00000347528.4	-	6	557	c.474C>T	c.(472-474)aaC>aaT	p.N158N	ANK1_ENST00000396945.1_Silent_p.N158N|ANK1_ENST00000379758.2_Silent_p.N158N|ANK1_ENST00000265709.8_Silent_p.N191N|ANK1_ENST00000289734.7_Silent_p.N158N|ANK1_ENST00000352337.4_Silent_p.N158N|ANK1_ENST00000396942.1_Silent_p.N158N	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	158	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)			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)			GCGCGACGACGTTCTCATGGC	0.672																																						ENST00000396942.1																			0				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						c.(472-474)aaC>aaT		ankyrin 1, erythrocytic							87.0	58.0	67.0					8																	41583417		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:41583417G>A	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.474C>T	8.37:g.41583417G>A						ANK1_ENST00000347528.4_Silent_p.N158N|ANK1_ENST00000289734.7_Silent_p.N158N|ANK1_ENST00000265709.8_Silent_p.N191N|ANK1_ENST00000396945.1_Silent_p.N158N|ANK1_ENST00000352337.4_Silent_p.N158N|ANK1_ENST00000379758.2_Silent_p.N158N	p.N158N			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)		6	557	-	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)	158			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.474C>T	CCDS6119.1																																																																																				0.672	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	20	0	0	0	1	0	8	20				
EIF4G3	8672	broad.mit.edu	37	1	21143947	21143947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21143947G>A	ENST00000264211.8	-	28	4479	c.4285C>T	c.(4285-4287)Cga>Tga	p.R1429*	EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.R1149*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.R1033*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.R1429*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.R919*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1429	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCTCGAGTCGCTTATACAGC	0.423																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4303-4305)Cga>Tga		eukaryotic translation initiation factor 4 gamma, 3							114.0	112.0	112.0					1																	21143947		2203	4300	6503	SO:0001587	stop_gained	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21143947G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4285C>T	1.37:g.21143947G>A	ENSP00000264211:p.Arg1429*					EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.R919*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.R1033*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.R1149*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.R1429*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.R1435*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.R1429*	p.R1435*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	32	4886	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1429			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	c.4303C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	47	13.756568	0.99761	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.4	5.4	0.78164	.	0.218495	0.40385	N	0.001101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-3.5553	14.1198	0.65180	0.0:0.0:0.8498:0.1502	.	.	.	.	X	1429;1625;1429;1149;919;1435;1033	.	ENSP00000264211:R1429X	R	-	1	2	EIF4G3	21016534	1.000000	0.71417	0.985000	0.45067	0.811000	0.45836	5.055000	0.64282	2.546000	0.85860	0.558000	0.71614	CGA		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		38	55	0	0	0	1	0	38	55				
VWA8	23078	broad.mit.edu	37	13	42144707	42144707	+	Nonsense_Mutation	SNP	G	G	A	rs201130705		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:42144707G>A	ENST00000379310.3	-	44	5574	c.5506C>T	c.(5506-5508)Cga>Tga	p.R1836*	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1836	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATTCCATATCGTGACAGATTT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20602	0.0		0.001	False		,,,				2504	0.0					ENST00000379310.3																			0											c.(5506-5508)Cga>Tga		von Willebrand factor A domain containing 8							189.0	174.0	179.0					13																	42144707		1943	4122	6065	SO:0001587	stop_gained	23078							g.chr13:42144707G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5506C>T	13.37:g.42144707G>A	ENSP00000368612:p.Arg1836*						p.R1836*	NM_015058.1	NP_055873.1					44	5574	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	c.5506C>T	CCDS41881.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	46	12.890196	0.99704	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.97	5.13	0.70059	.	0.065819	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1654	0.72821	0.0672:0.0:0.9328:0.0	.	.	.	.	X	1740;1836	.	ENSP00000251030:R1740X	R	-	1	2	KIAA0564	41042707	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.228000	0.65310	1.544000	0.49359	0.655000	0.94253	CGA		0.408	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	123	0	0	0	1	0	4	123				
CSPG4	1464	broad.mit.edu	37	15	75975362	75975362	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75975362C>T	ENST00000308508.5	-	6	4562	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1490	Gly/Ser-rich (glycosaminoglycan attachment domain).				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGGGATGGGCGCAGTGGCCC	0.677																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4468-4470)gcG>gcA		chondroitin sulfate proteoglycan 4							18.0	19.0	18.0					15																	75975362		2191	4287	6478	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75975362C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4470G>A	15.37:g.75975362C>T							p.A1490A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			6	4562	-			1490			Gly/Ser-rich (glycosaminoglycan attachment domain).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4470G>A	CCDS10284.1																																																																																				0.677	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	9	0	0	0	1	0	5	9				
WDHD1	11169	broad.mit.edu	37	14	55493428	55493428	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55493428C>T	ENST00000360586.3	-	2	143		c.e2+1		SOCS4_ENST00000555846.1_5'Flank|SOCS4_ENST00000395472.2_5'Flank|WDHD1_ENST00000421192.1_Splice_Site|SOCS4_ENST00000339298.2_5'Flank|WDHD1_ENST00000420358.2_Intron	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1						heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.?(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAGAACCTTACCTCCCAGAAT	0.403																																						ENST00000360586.3																			1	Unknown(1)	p.?(1)	lung(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.e2+1		WD repeat and HMG-box DNA binding protein 1							159.0	152.0	154.0					14																	55493428		2203	4300	6503	SO:0001630	splice_region_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55493428C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.77+1G>A	14.37:g.55493428C>T						WDHD1_ENST00000421192.1_Splice_Site|WDHD1_ENST00000420358.2_Intron		NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			2	143	-								C9JW18|F6W0U7	Splice_Site	SNP	ENST00000360586.3	37		CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206861	0.58343	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.915	0.79508	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDHD1	54563178	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.046000	0.64226	2.533000	0.85409	0.467000	0.42956	.		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	Intron	10	42	0	0	0	1	0	10	42				
MYH9	4627	broad.mit.edu	37	22	36714303	36714303	+	Silent	SNP	C	C	T	rs143316848	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36714303C>T	ENST00000216181.5	-	11	1406	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	392	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGATGCGCGGGGTGAGGA	0.537			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				C|||	2	0.000399361	0.0	0.0	5008	,	,		20527	0.002		0.0	False		,,,				2504	0.0					ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1174-1176)ccG>ccA		myosin, heavy chain 9, non-muscle		C		16,4390	23.3+/-48.9	0,16,2187	202.0	195.0	197.0		1176	-8.9	0.9	22	dbSNP_134	197	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,16,6487	TT,TC,CC		0.0,0.3631,0.123		392/1961	36714303	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36714303C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1176G>A	22.37:g.36714303C>T							p.P392P	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			11	1406	-			392			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1176G>A	CCDS13927.1																																																																																				0.537	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		6	165	0	0	0	1	0	6	165				
ACO1	48	broad.mit.edu	37	9	32440537	32440537	+	Silent	SNP	C	C	T	rs183113769		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32440537C>T	ENST00000309951.6	+	19	2460	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ACO1_ENST00000379923.1_Silent_p.Y774Y|ACO1_ENST00000541043.1_Silent_p.Y675Y	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	774					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCAAAGAGTACGGTGCAGGCA	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16098	0.0		0.0	False		,,,				2504	0.0					ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(2320-2322)taC>taT		aconitase 1, soluble		C		0,4406		0,0,2203	71.0	65.0	67.0		2322	-11.3	0.2	9		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACO1	NM_002197.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		774/890	32440537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32440537C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2322C>T	9.37:g.32440537C>T						ACO1_ENST00000309951.5_Silent_p.Y774Y|ACO1_ENST00000541043.1_Silent_p.Y675Y	p.Y774Y	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	20	2528	+			774					D3DRK7|Q14652|Q5VZA7	Silent	SNP	ENST00000309951.6	37	c.2322C>T	CCDS6525.1																																																																																				0.562	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		14	28	0	0	0	1	0	14	28				
TOE1	114034	broad.mit.edu	37	1	45806886	45806886	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:45806886C>T	ENST00000372090.5	+	2	777	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372100.5_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	65						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCTGTGGACACGGTGAGAGTT	0.547																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.e2+1		target of EGR1, member 1 (nuclear)							114.0	102.0	106.0					1																	45806886		2203	4300	6503	SO:0001630	splice_region_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45806886C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.195+1C>T	1.37:g.45806886C>T						TOE1_ENST00000539779.1_Intron|TOE1_ENST00000495703.1_3'UTR	p.T65_splice	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			2	777	+	Acute lymphoblastic leukemia(166;0.155)		65					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Splice_Site	SNP	ENST00000372090.5	37	c.195_splice	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819469	0.90873	.	.	ENSG00000132773	ENST00000372090	T	0.25579	1.79	5.61	5.61	0.85477	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.52191	0.1719	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.951;0.995	T	0.46148	-0.9212	10	0.52906	T	0.07	-10.9192	20.0018	0.97417	0.0:1.0:0.0:0.0	.	71;65	B4DP23;Q96GM8	.;TOE1_HUMAN	M	65	ENSP00000361162:T65M	ENSP00000361162:T65M	T	+	2	0	TOE1	45579473	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.706000	0.74649	2.793000	0.96121	0.655000	0.94253	ACG		0.547	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	Missense_Mutation	20	32	0	0	0	1	0	20	32				
LIFR	3977	broad.mit.edu	37	5	38523624	38523624	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:38523624A>G	ENST00000263409.4	-	5	620	c.458T>C	c.(457-459)tTa>tCa	p.L153S	LIFR_ENST00000453190.2_Missense_Mutation_p.L153S|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	153					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTTAGGTATAATGTAGAGGT	0.358			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(457-459)tTa>tCa		leukemia inhibitory factor receptor alpha							80.0	86.0	84.0					5																	38523624		2203	4299	6502	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38523624A>G	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.458T>C	5.37:g.38523624A>G	ENSP00000263409:p.Leu153Ser					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L153S	p.L153S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			5	620	-	all_lung(31;0.00021)		153					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.458T>C	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.624800	0.46840	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.61274	0.12;0.12	5.38	5.38	0.77491	Immunoglobulin-like fold (1);	0.713113	0.14086	N	0.342343	T	0.74891	0.3776	M	0.74881	2.28	0.09310	N	0.999997	D	0.89917	1.0	D	0.78314	0.991	T	0.66654	-0.5869	10	0.87932	D	0	-6.0018	11.7852	0.52039	1.0:0.0:0.0:0.0	.	153	P42702	LIFR_HUMAN	S	153	ENSP00000263409:L153S;ENSP00000398368:L153S	ENSP00000263409:L153S	L	-	2	0	LIFR	38559381	0.485000	0.25972	0.005000	0.12908	0.439000	0.31926	4.910000	0.63321	2.021000	0.59480	0.533000	0.62120	TTA		0.358	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		30	46	0	0	0	1	0	30	46				
SIPA1	6494	broad.mit.edu	37	11	65408562	65408562	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65408562C>T	ENST00000394224.3	+	2	466	c.170C>T	c.(169-171)gCa>gTa	p.A57V	SIPA1_ENST00000394227.3_Missense_Mutation_p.A57V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A57V|SIPA1_ENST00000534313.1_Missense_Mutation_p.A57V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	57					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGCAGCGATGCAGGCGAGGCC	0.726																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(169-171)gCa>gTa		signal-induced proliferation-associated 1							8.0	9.0	8.0					11																	65408562		2098	4105	6203	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408562C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.170C>T	11.37:g.65408562C>T	ENSP00000377771:p.Ala57Val					SIPA1_ENST00000534313.1_Missense_Mutation_p.A57V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A57V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A57V	p.A57V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	466	+			57					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.170C>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086578	0.55861	.	.	ENSG00000213445	ENST00000534313;ENST00000533361;ENST00000527525;ENST00000394224;ENST00000394227	D;T;D;D;D	0.84660	-1.88;0.31;-1.87;-1.88;-1.87	5.38	5.38	0.77491	.	0.187052	0.22313	U	0.061703	T	0.79505	0.4457	L	0.51422	1.61	0.29788	N	0.83348	B;B	0.33637	0.42;0.296	B;B	0.28465	0.09;0.041	T	0.76884	-0.2794	10	0.38643	T	0.18	-12.6431	11.6705	0.51399	0.1772:0.8228:0.0:0.0	.	57;57	F6RY50;Q96FS4	.;SIPA1_HUMAN	V	57	ENSP00000436269:A57V;ENSP00000436683:A57V;ENSP00000433686:A57V;ENSP00000377771:A57V;ENSP00000377774:A57V	ENSP00000377771:A57V	A	+	2	0	SIPA1	65165138	0.736000	0.28164	0.954000	0.39281	0.892000	0.51952	1.585000	0.36600	2.520000	0.84964	0.561000	0.74099	GCA		0.726	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		9	8	0	0	0	1	0	9	8				
HSF4	3299	broad.mit.edu	37	16	67199676	67199676	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67199676G>A	ENST00000521374.1	+	3	287	c.287G>A	c.(286-288)cGc>cAc	p.R96H	HSF4_ENST00000264009.8_Missense_Mutation_p.R96H|HSF4_ENST00000421453.1_Missense_Mutation_p.R96H|HSF4_ENST00000584272.1_Missense_Mutation_p.R96H			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	96					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGGCCGGAGCGCGACCACGTC	0.716																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(286-288)cGc>cAc		heat shock transcription factor 4							13.0	17.0	16.0					16																	67199676		1982	4174	6156	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67199676G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.287G>A	16.37:g.67199676G>A	ENSP00000430947:p.Arg96His					RP11-5A19.5_ENST00000580114.1_3'UTR|HSF4_ENST00000521374.1_Missense_Mutation_p.R96H|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Missense_Mutation_p.R96H|HSF4_ENST00000584272.1_Missense_Mutation_p.R96H	p.R96H	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1252	+		Ovarian(137;0.0563)	96					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.287G>A	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215274	0.79352	.	.	ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374;ENST00000517729	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	4.86	3.86	0.44501	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.116245	0.64402	D	0.000018	D	0.84642	0.5517	L	0.42744	1.35	0.58432	D	0.999995	P;B	0.34562	0.457;0.049	B;B	0.24541	0.054;0.009	D	0.85590	0.1245	10	0.52906	T	0.07	-20.3056	13.3605	0.60652	0.0:0.0:0.8424:0.1576	.	96;96	Q9ULV5-2;Q9ULV5	.;HSF4_HUMAN	H	96;96;96;96;54	ENSP00000408815:R96H;ENSP00000264009:R96H;ENSP00000428978:R96H;ENSP00000430947:R96H;ENSP00000430299:R54H	ENSP00000264009:R96H	R	+	2	0	HSF4	65757177	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.594000	0.61041	2.521000	0.84997	0.561000	0.74099	CGC		0.716	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	16	0	0	0	1	0	4	16				
TRIB2	28951	broad.mit.edu	37	2	12880827	12880827	+	Silent	SNP	C	C	T	rs150722548	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:12880827C>T	ENST00000155926.4	+	3	2358	c.939C>T	c.(937-939)agC>agT	p.S313S	TRIB2_ENST00000381465.2_Silent_p.S177S	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGATTTTAGCGTCTCGAATT	0.517													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19438	0.0		0.0	False		,,,				2504	0.0					ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(937-939)agC>agT		tribbles pseudokinase 2		C		2,4404	4.2+/-10.8	0,2,2201	71.0	69.0	69.0		939	-3.9	0.9	2	dbSNP_134	69	13,8587	9.1+/-34.3	0,13,4287	no	coding-synonymous	TRIB2	NM_021643.3		0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153		313/344	12880827	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880827C>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.939C>T	2.37:g.12880827C>T						TRIB2_ENST00000381465.2_Silent_p.S177S	p.S313S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2358	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		313						Silent	SNP	ENST00000155926.4	37	c.939C>T	CCDS1683.1																																																																																				0.517	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		10	21	0	0	0	1	0	10	21				
TBC1D23	55773	broad.mit.edu	37	3	100002532	100002532	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:100002532G>A	ENST00000394144.4	+	4	360	c.353G>A	c.(352-354)cGt>cAt	p.R118H	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R118H|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	118	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGTAAATCACGTAACATTAAA	0.368																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(352-354)cGt>cAt		TBC1 domain family, member 23							110.0	104.0	106.0					3																	100002532		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100002532G>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.353G>A	3.37:g.100002532G>A	ENSP00000377700:p.Arg118His					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000344949.5_Missense_Mutation_p.R118H	p.R118H	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			4	360	+			118			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.353G>A	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743653	0.96873	.	.	ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	5.96	5.96	0.96718	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59643	0.861;0.781	T	0.00019	-1.2361	9	.	.	.	.	20.4057	0.99008	0.0:0.0:1.0:0.0	.	118;118	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	H	126;118;118;104	ENSP00000417487:R126H;ENSP00000340693:R118H;ENSP00000377700:R118H;ENSP00000418714:R104H	.	R	+	2	0	TBC1D23	101485222	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.166000	0.94766	2.829000	0.97493	0.591000	0.81541	CGT		0.368	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		20	31	0	0	0	1	0	20	31				
NOA1	84273	broad.mit.edu	37	4	57843409	57843409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57843409G>A	ENST00000264230.4	-	1	1580	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	115					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGTAGGTTTtgctgtcgccgc	0.706																																						ENST00000264230.4																			0											c.(343-345)Caa>Taa		nitric oxide associated 1							23.0	23.0	23.0					4																	57843409		2185	4263	6448	SO:0001587	stop_gained	84273						GTP binding	g.chr4:57843409G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.343C>T	4.37:g.57843409G>A	ENSP00000264230:p.Gln115*						p.Q115*	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1580	-			115					Q8N7L6|Q9BSQ9	Nonsense_Mutation	SNP	ENST00000264230.4	37	c.343C>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	46	12.820950	0.99698	.	.	ENSG00000084092	ENST00000264230	.	.	.	4.06	3.17	0.36434	.	0.645512	0.14401	N	0.321885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	9.7932	0.40720	0.0:0.2086:0.7914:0.0	.	.	.	.	X	115	.	ENSP00000264230:Q115X	Q	-	1	0	C4orf14	57538166	0.458000	0.25760	0.773000	0.31616	0.659000	0.38960	0.853000	0.27777	1.797000	0.52628	0.305000	0.20034	CAA		0.706	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	4	0	0	0	1	0	7	4				
SNF8	11267	broad.mit.edu	37	17	47018301	47018301	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47018301C>T	ENST00000502492.1	-	3	611	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	SNF8_ENST00000290330.3_Missense_Mutation_p.V77M			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	77					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.V77M(1)		breast(1)|endometrium(1)|lung(1)	3						AGCGGATCCACGCCAATGGTT	0.507																																						ENST00000502492.1																			1	Substitution - Missense(1)	p.V77M(1)	endometrium(1)	breast(1)|endometrium(1)|lung(1)	3						c.(229-231)Gtg>Atg		SNF8, ESCRT-II complex subunit							140.0	122.0	128.0					17																	47018301		2203	4300	6503	SO:0001583	missense	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47018301C>T	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.229G>A	17.37:g.47018301C>T	ENSP00000421380:p.Val77Met					SNF8_ENST00000290330.3_Missense_Mutation_p.V77M	p.V77M			Q96H20	SNF8_HUMAN			3	611	-			77					Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	c.229G>A	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	c	32	5.189238	0.94923	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.46	5.46	0.80206	.	0.124936	0.53938	D	0.000049	D	0.84497	0.5485	M	0.91717	3.235	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.60345	0.799;0.873	D	0.87529	0.2451	9	0.87932	D	0	-24.5763	19.0882	0.93215	0.0:1.0:0.0:0.0	.	77;77	Q96H20-2;Q96H20	.;SNF8_HUMAN	M	77	.	ENSP00000290330:V77M	V	-	1	0	SNF8	44373300	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.334000	0.79224	2.844000	0.97970	0.651000	0.88453	GTG		0.507	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		27	40	0	0	0	1	0	27	40				
RNF213	57674	broad.mit.edu	37	17	78265574	78265574	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78265574C>T	ENST00000582970.1	+	8	1562	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	RNF213_ENST00000508628.2_Silent_p.G522G|RNF213_ENST00000319921.4_Silent_p.G473G|RNF213_ENST00000456466.1_Silent_p.G473G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	473					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGAAGGGCGAGTACGTCA	0.473																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(1417-1419)ggC>ggT		ring finger protein 213							101.0	90.0	94.0					17																	78265574		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78265574C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1419C>T	17.37:g.78265574C>T						RNF213_ENST00000319921.4_Silent_p.G473G|RNF213_ENST00000456466.1_Silent_p.G473G|RNF213_ENST00000508628.2_Silent_p.G522G	p.G473G	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		8	1562	+	all_neural(118;0.0538)		473					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1419C>T	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	43	0	0	0	1	0	31	43				
GPHN	10243	broad.mit.edu	37	14	67578599	67578599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:67578599C>T	ENST00000315266.5	+	14	2457	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	GPHN_ENST00000305960.9_Nonsense_Mutation_p.R415*|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000478722.1_Nonsense_Mutation_p.R479*|GPHN_ENST00000543237.1_Nonsense_Mutation_p.R492*	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	446	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R479*(3)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACTTGAAGTGCGAATTCTGGT	0.383			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		3	Substitution - Nonsense(3)	p.R479*(3)	large_intestine(2)|endometrium(1)	large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1435-1437)Cga>Tga		gephyrin							80.0	84.0	83.0					14																	67578599		2203	4300	6503	SO:0001587	stop_gained	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67578599C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1336C>T	14.37:g.67578599C>T	ENSP00000312771:p.Arg446*					GPHN_ENST00000315266.5_Nonsense_Mutation_p.R446*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.R415*|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Nonsense_Mutation_p.R492*	p.R479*	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	15	2556	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	446			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Nonsense_Mutation	SNP	ENST00000315266.5	37	c.1435C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	39	7.860533	0.98531	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.07	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3156	14.435	0.67274	0.1489:0.8511:0.0:0.0	.	.	.	.	X	446;479;492;415	.	ENSP00000303019:R415X	R	+	1	2	GPHN	66648352	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.070000	0.71220	1.089000	0.41292	0.655000	0.94253	CGA		0.383	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		23	31	0	0	0	1	0	23	31				
ARPC1B	10095	broad.mit.edu	37	7	98983333	98983333	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98983333C>T	ENST00000451682.1	+	0	305				ARPC1A_ENST00000432884.2_Silent_p.S314S|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_5'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGCCAAGCCGCCATGGCC	0.642																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(940-942)agC>agT		actin related protein 2/3 complex, subunit 1A, 41kDa							37.0	31.0	33.0					7																	98983333		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98983333C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.-5C>T	7.37:g.98983333C>T						ARPC1B_ENST00000451682.1_5'UTR|ARPC1B_ENST00000252725.5_5'UTR|ARPC1B_ENST00000474880.1_3'UTR	p.S314S			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1403	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		363					Q9BU00	Silent	SNP	ENST00000451682.1	37	c.942C>T	CCDS5661.1																																																																																				0.642	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		3	6	0	0	0	1	0	3	6				
CCDC136	64753	broad.mit.edu	37	7	128451905	128451905	+	Missense_Mutation	SNP	G	G	A	rs368143350		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128451905G>A	ENST00000297788.4	+	13	2447	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	694						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGTATGACGCCGGTCAGGC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19900	0.0		0.0	False		,,,				2504	0.0					ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(2080-2082)Gcc>Acc		coiled-coil domain containing 136		G	,THR/ALA	2,3896		0,2,1947	47.0	48.0	48.0		,2080	-8.9	0.0	7		48	0,8294		0,0,4147	no	intron,missense	CCDC136	NM_001201372.1,NM_022742.4	,58	0,2,6094	AA,AG,GG		0.0,0.0513,0.0164	,benign	,694/1155	128451905	2,12190	1949	4147	6096	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128451905G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2080G>A	7.37:g.128451905G>A	ENSP00000297788:p.Ala694Thr					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	p.A694T	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			13	2447	+			694					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2080G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627129	0.28978	5.13E-4	0.0	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.49139	0.79;0.79	6.07	-8.92	0.00774	.	1.428410	0.04058	N	0.305857	T	0.28732	0.0712	L	0.39633	1.23	0.09310	N	1	B;B;B	0.23891	0.093;0.093;0.093	B;B;B	0.14578	0.011;0.011;0.011	T	0.09574	-1.0668	10	0.12430	T	0.62	1.4123	5.5715	0.17200	0.474:0.0:0.2322:0.2938	.	694;694;694	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	T	694;694;694;285	ENSP00000297788:A694T;ENSP00000417991:A285T	ENSP00000297788:A694T	A	+	1	0	CCDC136	128239141	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.744000	0.04839	-1.879000	0.01126	-0.302000	0.09304	GCC		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		15	26	0	0	0	1	0	15	26				
TNKS	8658	broad.mit.edu	37	8	9588532	9588532	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:9588532G>A	ENST00000310430.6	+	14	2160	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	TNKS_ENST00000518281.1_Missense_Mutation_p.A475T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	712					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGATGTCCATGCCAAAGACAA	0.448																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2134-2136)Gcc>Acc		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							91.0	77.0	82.0					8																	9588532		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588532G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2134G>A	8.37:g.9588532G>A	ENSP00000311579:p.Ala712Thr					TNKS_ENST00000518281.1_Missense_Mutation_p.A475T	p.A712T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2160	+			712					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2134G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858935	0.97036	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.66995	-0.24;-0.24	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80668	-0.1280	10	0.62326	D	0.03	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	712	O95271	TNKS1_HUMAN	T	712;475	ENSP00000311579:A712T;ENSP00000429890:A475T	ENSP00000311579:A712T	A	+	1	0	TNKS	9625942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GCC		0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		19	27	0	0	0	1	0	19	27				
LY9	4063	broad.mit.edu	37	1	160769675	160769675	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160769675C>A	ENST00000263285.6	+	2	287	c.257C>A	c.(256-258)gCt>gAt	p.A86D	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.A86D|LY9_ENST00000368037.5_Missense_Mutation_p.A86D|LY9_ENST00000368041.2_Missense_Mutation_p.A46D|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.A86D|LY9_ENST00000368039.2_Missense_Mutation_p.A86D			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	86	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCAAAAATGCTCTTGCTTTC	0.493																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(256-258)gCt>gAt		lymphocyte antigen 9							98.0	94.0	95.0					1																	160769675		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769675C>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.257C>A	1.37:g.160769675C>A	ENSP00000263285:p.Ala86Asp					LY9_ENST00000341032.4_Missense_Mutation_p.A86D|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.A46D|LY9_ENST00000368039.2_Missense_Mutation_p.A86D	p.A86D	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	287	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		86			Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.257C>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665782	0.47677	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.64991	1.81;1.95;1.95;-0.13	4.04	3.11	0.35812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.890310	0.02872	N	0.131793	T	0.69342	0.3100	M	0.76574	2.34	0.20926	N	0.999828	D;D;D;D;D;D	0.76494	0.999;0.982;0.997;0.998;0.999;0.999	D;P;P;D;D;D	0.72982	0.979;0.706;0.879;0.943;0.946;0.966	T	0.48747	-0.9008	10	0.66056	D	0.02	-5.1592	6.9202	0.24383	0.0:0.8758:0.0:0.1242	.	86;46;86;86;86;86	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	D	86;86;86;86;86;46;46	ENSP00000357020:A86D;ENSP00000342921:A86D;ENSP00000263285:A86D;ENSP00000357018:A86D	ENSP00000263285:A86D	A	+	2	0	LY9	159036299	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.267000	0.08619	2.225000	0.72522	0.563000	0.77884	GCT		0.493	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		27	30	1	0	1.5548e-18	1	1.71633e-18	27	30				
EFCAB6	64800	broad.mit.edu	37	22	43930688	43930688	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43930688G>A	ENST00000262726.7	-	30	4366	c.4113C>T	c.(4111-4113)taC>taT	p.Y1371Y	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Silent_p.Y1219Y|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1371	EF-hand 15. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTTAAGTCGTATTTTATAA	0.418																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4111-4113)taC>taT		EF-hand calcium binding domain 6							124.0	118.0	120.0					22																	43930688		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930688G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4113C>T	22.37:g.43930688G>A						EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Silent_p.Y1219Y|EFCAB6_ENST00000461800.1_5'UTR	p.Y1371Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			30	4366	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1371			EF-hand 15.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.4113C>T	CCDS14049.1																																																																																				0.418	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		28	52	0	0	0	1	0	28	52				
FAM118A	55007	broad.mit.edu	37	22	45726576	45726576	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:45726576G>A	ENST00000216214.3	+	6	1449	c.615G>A	c.(613-615)tcG>tcA	p.S205S	FAM118A_ENST00000441876.2_Silent_p.S205S|FAM118A_ENST00000405548.3_Silent_p.S23S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	205						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGACCCATCGGGGTATAAAG	0.572																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(613-615)tcG>tcA		family with sequence similarity 118, member A							98.0	89.0	92.0					22																	45726576		2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45726576G>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.615G>A	22.37:g.45726576G>A						FAM118A_ENST00000441876.2_Silent_p.S205S|FAM118A_ENST00000405548.3_Silent_p.S23S	p.S205S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1449	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	205					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.615G>A	CCDS14065.1																																																																																				0.572	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		7	17	0	0	0	1	0	7	17				
MFSD3	113655	broad.mit.edu	37	8	145737881	145737881	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145737881G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Silent_p.S983S|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACTCCACGGAGCTGCTGCCTT	0.647																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2947-2949)agC>agT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							32.0	41.0	38.0					8																	145737881		2090	4214	6304	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737881G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737881G>A						RECQL4_ENST00000532237.1_5'UTR	p.S983S	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		18	2990	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		983						Silent	SNP	ENST00000301327.4	37	c.2949C>T	CCDS6431.1																																																																																				0.647	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		11	26	0	0	0	1	0	11	26				
PAEP	5047	broad.mit.edu	37	9	138457638	138457638	+	Silent	SNP	C	C	T	rs537242473	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:138457638C>T	ENST00000479141.1	+	6	578	c.534C>T	c.(532-534)tgC>tgT	p.C178C	PAEP_ENST00000371766.2_Silent_p.C178C|PAEP_ENST00000277508.5_Silent_p.C178C	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	178					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CAGAGCCGTGCCGTTTCTAGG	0.617																																						ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(532-534)tgC>tgT		progestagen-associated endometrial protein							173.0	173.0	173.0					9																	138457638		2203	4300	6503	SO:0001819	synonymous_variant	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138457638C>T		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.534C>T	9.37:g.138457638C>T						PAEP_ENST00000277508.5_Silent_p.C178C|PAEP_ENST00000371766.2_Silent_p.C178C	p.C178C	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	578	+			178					Q5T6T1|Q9UG92	Silent	SNP	ENST00000479141.1	37	c.534C>T	CCDS35173.1	.	.	.	.	.	.	.	.	.	.	C	1.498	-0.552737	0.03996	.	.	ENSG00000122133	ENST00000433563;ENST00000454923;ENST00000457014	.	.	.	0.967	0.967	0.19674	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	5.2771	0.15655	0.0:1.0:0.0:0.0	.	.	.	.	S	129;124;31	.	.	P	+	1	0	PAEP	137597459	0.098000	0.21812	0.005000	0.12908	0.010000	0.07245	0.545000	0.23268	0.822000	0.34565	0.467000	0.42956	CCG		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		49	81	0	0	0	1	0	49	81				
USP22	23326	broad.mit.edu	37	17	20924447	20924447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:20924447G>A	ENST00000261497.4	-	3	600	c.397C>T	c.(397-399)Cga>Tga	p.R133*	USP22_ENST00000537526.2_Nonsense_Mutation_p.R121*|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	133					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(397-399)Cga>Tga		ubiquitin specific peptidase 22							91.0	93.0	93.0					17																	20924447		2017	4182	6199	SO:0001587	stop_gained	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20924447G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.397C>T	17.37:g.20924447G>A	ENSP00000261497:p.Arg133*					USP22_ENST00000537526.2_Nonsense_Mutation_p.R121*|USP22_ENST00000455117.2_Intron	p.R133*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			3	600	-			133					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Nonsense_Mutation	SNP	ENST00000261497.4	37	c.397C>T	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	g	36	5.836369	0.97009	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	.	.	.	4.44	4.44	0.53790	.	0.132399	0.47852	D	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	17.0541	0.86529	0.0:0.0:1.0:0.0	.	.	.	.	X	201;121;133	.	ENSP00000261497:R133X	R	-	1	2	USP22	20865039	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.991000	0.56973	1.991000	0.58162	0.563000	0.77884	CGA		0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			12	22	0	0	0	1	0	12	22				
VWA7	80737	broad.mit.edu	37	6	31734102	31734102	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31734102G>A	ENST00000375688.4	-	15	2444	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	VWA7_ENST00000375686.3_Silent_p.I748I|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	748						extracellular region (GO:0005576)											AGAAGCTGGCGATGCGGAGAC	0.607																																						ENST00000375686.3																			0											c.(2242-2244)atC>atT		von Willebrand factor A domain containing 7							33.0	26.0	29.0					6																	31734102		1510	2709	4219	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31734102G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2244C>T	6.37:g.31734102G>A						VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.I748I	p.I748I	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			15	2481	-			748					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.2244C>T	CCDS4721.2																																																																																				0.607	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		2	2	0	0	0	1	0	2	2				
CELF3	11189	broad.mit.edu	37	1	151680022	151680022	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:151680022C>T	ENST00000290583.4	-	7	1526	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000392706.3_Missense_Mutation_p.A62T|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.A245T|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	245					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGGCCATTGGCATTGATGGCA	0.647																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(733-735)Gcc>Acc		CUGBP, Elav-like family member 3							31.0	29.0	30.0					1																	151680022		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680022C>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.733G>A	1.37:g.151680022C>T	ENSP00000290583:p.Ala245Thr					CELF3_ENST00000290585.4_Missense_Mutation_p.A245T|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.A62T	p.A245T	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			7	1526	-			245					B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.733G>A	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.41|10.41	1.342697|1.342697	0.24339|0.24339	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706;ENST00000368833|ENST00000420342	T;T;T|.	0.17370|.	2.36;2.28;3.4|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.156736|.	0.41605|.	D|.	0.000844|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.50333|0.50333	1.59|1.59	0.38127|0.38127	D|D	0.938048|0.938048	P;B;B;P;B;P|.	0.46142|.	0.57;0.015;0.12;0.873;0.418;0.554|.	B;B;B;B;B;B|.	0.41813|.	0.138;0.007;0.131;0.367;0.092;0.132|.	T|T	0.37957|0.37957	-0.9683|-0.9683	10|5	0.35671|.	T|.	0.21|.	-4.3707|-4.3707	5.6612|5.6612	0.17670|0.17670	0.0:0.691:0.2024:0.1066|0.0:0.691:0.2024:0.1066	.|.	62;245;245;244;245;244|.	B4DQL3;Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3|.	.;.;.;.;CELF3_HUMAN;.|.	T|I	245;245;62;244|245	ENSP00000290585:A245T;ENSP00000290583:A245T;ENSP00000376470:A62T|.	ENSP00000290583:A245T|.	A|M	-|-	1|3	0|0	CELF3|CELF3	149946646|149946646	0.821000|0.821000	0.29204|0.29204	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.396000|0.396000	0.20867|0.20867	2.094000|2.094000	0.63399|0.63399	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		4	8	0	0	0	1	0	4	8				
FOXA1	3169	broad.mit.edu	37	14	38061877	38061877	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:38061877G>A	ENST00000250448.2	-	2	173	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	FOXA1_ENST00000540786.1_Silent_p.L5L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	38					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGAGCCCAGGCCTGAGTTC	0.592																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(112-114)Ctg>Ttg		forkhead box A1							145.0	126.0	133.0					14																	38061877		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061877G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.112C>T	14.37:g.38061877G>A						FOXA1_ENST00000540786.1_Silent_p.L5L|FOXA1_ENST00000545425.2_5'UTR	p.L38L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	173	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		38					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.112C>T	CCDS9665.1																																																																																				0.592	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			26	44	0	0	0	1	0	26	44				
FAM63B	54629	broad.mit.edu	37	15	59146739	59146739	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59146739G>A	ENST00000559228.1	+	9	1878	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	FAM63B_ENST00000450403.2_Missense_Mutation_p.R598H|RP11-30K9.5_ENST00000558042.1_RNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	599										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGTGAACGTAAACGGAAG	0.378																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1795-1797)cGt>cAt		family with sequence similarity 63, member B							60.0	57.0	58.0					15																	59146739		1849	4096	5945	SO:0001583	missense	54629							g.chr15:59146739G>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1796G>A	15.37:g.59146739G>A	ENSP00000452885:p.Arg599His					FAM63B_ENST00000450403.2_Missense_Mutation_p.R598H	p.R599H			Q8NBR6	FA63B_HUMAN			9	1878	+			599					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1796G>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629505	0.87660	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.51574	0.7	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.52253	-0.8600	10	0.32370	T	0.25	-23.996	19.4074	0.94653	0.0:0.0:1.0:0.0	.	599;598	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	H	599;598	ENSP00000393231:R598H	ENSP00000326194:R599H	R	+	2	0	FAM63B	56934031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.251000	0.72441	2.831000	0.97527	0.650000	0.86243	CGT		0.378	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		20	32	0	0	0	1	0	20	32				
HERC1	8925	broad.mit.edu	37	15	63984647	63984647	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63984647T>C	ENST00000443617.2	-	31	5880	c.5793A>G	c.(5791-5793)gaA>gaG	p.E1931E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1931					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTAGAAGCACTTCGGTCCACT	0.353																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(5791-5793)gaA>gaG		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							93.0	89.0	91.0					15																	63984647		1837	4091	5928	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63984647T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5793A>G	15.37:g.63984647T>C						RP11-317G6.1_ENST00000559303.2_RNA	p.E1931E	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			31	5880	-			1931					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.5793A>G	CCDS45277.1																																																																																				0.353	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		19	42	0	0	0	1	0	19	42				
CCDC132	55610	broad.mit.edu	37	7	92935164	92935164	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92935164C>T	ENST00000305866.5	+	18	1605	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	CCDC132_ENST00000544910.1_Missense_Mutation_p.R463C|CCDC132_ENST00000317751.6_Missense_Mutation_p.R224C|CCDC132_ENST00000535481.1_Missense_Mutation_p.R213C|CCDC132_ENST00000541136.1_Missense_Mutation_p.R304C	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	493						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAACAGTCTCGCTCCCCATC	0.378																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1387-1389)Cgc>Tgc		coiled-coil domain containing 132							91.0	84.0	86.0					7																	92935164		1859	4096	5955	SO:0001583	missense	55610							g.chr7:92935164C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1477C>T	7.37:g.92935164C>T	ENSP00000307666:p.Arg493Cys					CCDC132_ENST00000541136.1_Missense_Mutation_p.R304C|CCDC132_ENST00000535481.1_Missense_Mutation_p.R213C|CCDC132_ENST00000317751.6_Missense_Mutation_p.R224C|CCDC132_ENST00000305866.5_Missense_Mutation_p.R493C	p.R463C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		19	1607	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		493					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1387C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215140	0.95104	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.49139	0.79	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.982;0.992;0.982	T	0.65438	-0.6168	10	0.56958	D	0.05	-12.6323	19.9947	0.97381	0.0:1.0:0.0:0.0	.	213;463;493	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	C	493;463;304;213;224	ENSP00000325582:R224C	ENSP00000307666:R493C	R	+	1	0	CCDC132	92773100	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.441000	0.66569	2.794000	0.96219	0.650000	0.86243	CGC		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		25	32	0	0	0	1	0	25	32				
CYP2E1	1571	broad.mit.edu	37	10	135352437	135352437	+	Missense_Mutation	SNP	G	G	A	rs55982231		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:135352437G>A	ENST00000463117.2	+	11	1723	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R484H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	484					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATCCCACCACGTTACAAACTC	0.458									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1450-1452)cGt>cAt		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						129.0	106.0	113.0					10																	135352437		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352437G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1451G>A	10.37:g.135352437G>A	ENSP00000440689:p.Arg484His					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R484H	p.R484H			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	1723	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	484					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1451G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	3.738	-0.054095	0.07362	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.01279	5.06;5.06	5.1	-10.2	0.00374	.	1.925970	0.01911	N	0.039861	T	0.00906	0.0030	N	0.25094	0.71	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48222	-0.9054	10	0.12766	T	0.61	.	3.2631	0.06855	0.1428:0.3609:0.3187:0.1777	rs55982231;rs62621989	484	P05181	CP2E1_HUMAN	H	484	ENSP00000440689:R484H;ENSP00000252945:R484H	ENSP00000252945:R484H	R	+	2	0	CYP2E1	135202427	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.822000	0.04448	-2.379000	0.00595	-0.459000	0.05422	CGT		0.458	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		24	41	0	0	0	1	0	24	41				
MFNG	4242	broad.mit.edu	37	22	37876261	37876261	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37876261G>A	ENST00000356998.3	-	3	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	MFNG_ENST00000416983.3_Silent_p.F113F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	127					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.F127F(1)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGAAGGTGTCGAACTCAGCAG	0.597																																						ENST00000356998.3																			1	Substitution - coding silent(1)	p.F127F(1)	large_intestine(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(379-381)ttC>ttT		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							102.0	83.0	90.0					22																	37876261		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37876261G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.381C>T	22.37:g.37876261G>A						MFNG_ENST00000416983.3_Silent_p.F113F	p.F127F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			3	604	-	Melanoma(58;0.0574)		127					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.381C>T	CCDS13947.1																																																																																				0.597	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		8	17	0	0	0	1	0	8	17				
HR	55806	broad.mit.edu	37	8	21978589	21978589	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21978589C>T	ENST00000381418.4	-	10	3836	c.2356G>A	c.(2356-2358)Gcc>Acc	p.A786T	HR_ENST00000312841.8_Missense_Mutation_p.A786T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	786					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGGGCAGGGCCGGAGTGACG	0.662																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(2356-2358)Gcc>Acc		hair growth associated							41.0	45.0	44.0					8																	21978589		2203	4299	6502	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978589C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2356G>A	8.37:g.21978589C>T	ENSP00000370826:p.Ala786Thr					HR_ENST00000312841.8_Missense_Mutation_p.A786T	p.A786T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	10	3836	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	786					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2356G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569956	0.65765	.	.	ENSG00000168453	ENST00000381418;ENST00000312841;ENST00000517699	T;T;T	0.72394	-0.64;-0.65;0.79	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000037	T	0.65407	0.2688	N	0.25286	0.73	0.44531	D	0.997482	P;P	0.51351	0.944;0.908	P;P	0.50825	0.651;0.449	T	0.63902	-0.6532	10	0.31617	T	0.26	-13.0146	14.2885	0.66260	0.0:1.0:0.0:0.0	.	786;786	O43593-2;O43593	.;HAIR_HUMAN	T	786;786;9	ENSP00000370826:A786T;ENSP00000326765:A786T;ENSP00000430413:A9T	ENSP00000326765:A786T	A	-	1	0	HR	22034534	0.995000	0.38212	0.923000	0.36655	0.751000	0.42716	3.203000	0.51075	2.499000	0.84300	0.561000	0.74099	GCC		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			12	31	0	0	0	1	0	12	31				
ARID3C	138715	broad.mit.edu	37	9	34622047	34622047	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:34622047C>T	ENST00000378909.2	-	6	1200	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	370	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ATCTCTAGGGCCATGTTGATA	0.537																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1108-1110)Gcc>Acc		AT rich interactive domain 3C (BRIGHT-like)							154.0	129.0	137.0					9																	34622047		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622047C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1108G>A	9.37:g.34622047C>T	ENSP00000368189:p.Ala370Thr						p.A370T	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	6	1200	-	all_epithelial(49;0.102)		370			Pro-rich.|REKLES.			Missense_Mutation	SNP	ENST00000378909.2	37	c.1108G>A	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378038	0.82682	.	.	ENSG00000205143	ENST00000378909	T	0.47528	0.84	5.03	5.03	0.67393	REKLES domain (1);	0.000000	0.45867	D	0.000331	T	0.47581	0.1453	L	0.41236	1.265	0.41869	D	0.990264	P	0.46395	0.877	P	0.49887	0.625	T	0.47837	-0.9086	10	0.59425	D	0.04	-14.3553	11.0671	0.47982	0.2875:0.7125:0.0:0.0	.	370	A6NKF2	ARI3C_HUMAN	T	370	ENSP00000368189:A370T	ENSP00000368189:A370T	A	-	1	0	ARID3C	34612047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.618000	0.74214	2.612000	0.88384	0.549000	0.68633	GCC		0.537	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		33	41	0	0	0	1	0	33	41				
TSPAN9	10867	broad.mit.edu	37	12	3387724	3387724	+	Silent	SNP	G	G	A	rs147946820		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:3387724G>A	ENST00000011898.5	+	4	362	c.201G>A	c.(199-201)acG>acA	p.T67T	TSPAN9_ENST00000407263.1_Silent_p.T67T|TSPAN9_ENST00000537971.1_Silent_p.T67T|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCATGGTGACGGGCTTCCTCG	0.572																																						ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(199-201)acG>acA		tetraspanin 9		G	,	0,4406		0,0,2203	124.0	112.0	116.0		201,201	-5.4	1.0	12	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TSPAN9	NM_001168320.1,NM_006675.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	67/240,67/240	3387724	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10867					integral to plasma membrane|membrane fraction		g.chr12:3387724G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.201G>A	12.37:g.3387724G>A						TSPAN9_ENST00000407263.1_Silent_p.T67T|TSPAN9_ENST00000537971.1_Silent_p.T67T|TSPAN9_ENST00000492305.1_3'UTR	p.T67T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	362	+			67					D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	c.201G>A	CCDS8520.1																																																																																				0.572	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		20	33	0	0	0	1	0	20	33				
SLC35F2	54733	broad.mit.edu	37	11	107677515	107677515	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:107677515C>T	ENST00000525815.1	-	4	922	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC35F2_ENST00000429869.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V20M|SLC35F2_ENST00000375682.4_Missense_Mutation_p.V121M|SLC35F2_ENST00000525071.1_Missense_Mutation_p.V168M	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	168					transport (GO:0006810)	integral component of membrane (GO:0016021)				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)		CAGACAGCCACGGCGATGAAG	0.478																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(502-504)Gtg>Atg		solute carrier family 35, member F2							134.0	134.0	134.0					11																	107677515		2005	4174	6179	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107677515C>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.502G>A	11.37:g.107677515C>T	ENSP00000436785:p.Val168Met					SLC35F2_ENST00000375682.4_Missense_Mutation_p.V121M|SLC35F2_ENST00000525815.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000429869.1_Missense_Mutation_p.V168M|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V20M	p.V168M			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	7	1090	-		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)	168					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.502G>A	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689351	0.68271	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79108	0.99;0.992	D	0.89739	0.3932	10	0.87932	D	0	.	18.0192	0.89250	0.0:1.0:0.0:0.0	.	168;168	E9PJD1;Q8IXU6	.;S35F2_HUMAN	M	168;168;20;121;168	ENSP00000436785:V168M;ENSP00000434307:V168M;ENSP00000364834:V121M;ENSP00000393571:V168M	ENSP00000265836:V20M	V	-	1	0	SLC35F2	107182725	1.000000	0.71417	0.910000	0.35882	0.217000	0.24651	7.277000	0.78572	2.245000	0.73994	0.655000	0.94253	GTG		0.478	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		19	26	0	0	0	1	0	19	26				
GOLGA2P5	55592	broad.mit.edu	37	12	100552543	100552543	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100552543C>T	ENST00000397112.4	-	0	1600				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CCTCCTGGGGCTCTCTCCTCT	0.547																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100552543C>T																													12.37:g.100552543C>T								NR_036632.1						0	1600	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.547	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			4	10	0	0	0	1	0	4	10				
KCNAB1	7881	broad.mit.edu	37	3	155861202	155861202	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:155861202G>A	ENST00000490337.1	+	1	339				KCNAB1_ENST00000471742.1_Missense_Mutation_p.A79T|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACGGGCATGGCATACAGGTA	0.453																																						ENST00000471742.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(235-237)Gca>Aca		potassium voltage-gated channel, shaker-related subfamily, beta member 1							110.0	108.0	108.0					3																	155861202		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155861202G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22527G>A	3.37:g.155861202G>A						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	p.A79T	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	452	+			90					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.235G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095788	0.36952	.	.	ENSG00000169282	ENST00000471742	T	0.41758	0.99	5.29	0.157	0.14915	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.06862	-1.0803	8	0.28530	T	0.3	.	4.1948	0.10438	0.3404:0.3191:0.3405:0.0	.	79	Q14722-3	.	T	79	ENSP00000418956:A79T	ENSP00000418956:A79T	A	+	1	0	KCNAB1	157343896	0.378000	0.25114	0.973000	0.42090	0.993000	0.82548	0.373000	0.20484	0.313000	0.23062	0.561000	0.74099	GCA		0.453	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		15	86	0	0	0	1	0	15	86				
PRSS12	8492	broad.mit.edu	37	4	119204124	119204124	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:119204124C>A	ENST00000296498.3	-	12	2464	c.2182G>T	c.(2182-2184)Gcc>Tcc	p.A728S	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	728	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTAACCAGGGCTATGTCATAA	0.468																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2182-2184)Gcc>Tcc		protease, serine, 12 (neurotrypsin, motopsin)							205.0	204.0	204.0					4																	119204124		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204124C>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2182G>T	4.37:g.119204124C>A	ENSP00000296498:p.Ala728Ser					PRSS12_ENST00000510903.1_5'UTR	p.A728S	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			12	2464	-			728			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2182G>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513981	0.96402	.	.	ENSG00000164099	ENST00000296498	D	0.97870	-4.58	5.88	5.88	0.94601	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99445	1.0939	10	0.72032	D	0.01	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	728	P56730	NETR_HUMAN	S	728	ENSP00000296498:A728S	ENSP00000296498:A728S	A	-	1	0	PRSS12	119423572	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	7.294000	0.78760	2.789000	0.95967	0.591000	0.81541	GCC		0.468	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			57	83	1	0	1.67886e-27	1	1.87797e-27	57	83				
XIRP2	129446	broad.mit.edu	37	2	168103287	168103287	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:168103287G>A	ENST00000409195.1	+	9	5474	c.5385G>A	c.(5383-5385)agG>agA	p.R1795R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R1573R|XIRP2_ENST00000295237.9_Silent_p.R1795R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1620					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAAAAGGCAGTCTCTGG	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5383-5385)agG>agA		xin actin-binding repeat containing 2							185.0	176.0	179.0					2																	168103287		1933	4132	6065	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103287G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5385G>A	2.37:g.168103287G>A						XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.R1795R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R1573R|XIRP2_ENST00000409043.1_Intron	p.R1795R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5474	+			1620					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5385G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	60	0	0	0	1	0	35	60				
SUV420H1	51111	broad.mit.edu	37	11	67925797	67925797	+	Silent	SNP	G	G	A	rs200400289		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67925797G>A	ENST00000304363.4	-	11	2369	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	672					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P672P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AACAACCGACGGGTGAAGGAG	0.493																																						ENST00000304363.4																			1	Substitution - coding silent(1)	p.P672P(1)	lung(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2014-2016)ccC>ccT		suppressor of variegation 4-20 homolog 1 (Drosophila)							88.0	79.0	82.0					11																	67925797		2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925797G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2016C>T	11.37:g.67925797G>A							p.P672P	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2369	-			672					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2016C>T	CCDS31623.1																																																																																				0.493	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		12	16	0	0	0	1	0	12	16				
PRSS36	146547	broad.mit.edu	37	16	31157220	31157220	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:31157220C>T	ENST00000268281.4	-	6	668	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	PRSS36_ENST00000418068.2_Missense_Mutation_p.A204T|PRSS36_ENST00000569305.1_Missense_Mutation_p.A204T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	204	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGACAGGTGGCCTCGCCCAGC	0.612																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(610-612)Gcc>Acc		protease, serine, 36							53.0	49.0	50.0					16																	31157220		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157220C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.610G>A	16.37:g.31157220C>T	ENSP00000268281:p.Ala204Thr					PRSS36_ENST00000569305.1_Missense_Mutation_p.A204T|PRSS36_ENST00000418068.2_Missense_Mutation_p.A204T	p.A204T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	668	-			204			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.610G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	3.804	-0.041131	0.07452	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89196	-2.48;-2.48	5.45	1.01	0.19927	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.71358	0.3330	N	0.04132	-0.27	0.09310	N	1	B;B;B	0.16166	0.001;0.016;0.016	B;B;B	0.20184	0.005;0.028;0.026	T	0.57820	-0.7745	9	0.14252	T	0.57	.	5.1048	0.14777	0.1411:0.6194:0.0:0.2394	.	204;204;204	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	T	204	ENSP00000268281:A204T;ENSP00000407160:A204T	ENSP00000268281:A204T	A	-	1	0	PRSS36	31064721	0.000000	0.05858	0.006000	0.13384	0.132000	0.20833	-0.354000	0.07681	0.260000	0.21731	0.491000	0.48974	GCC		0.612	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		7	14	0	0	0	1	0	7	14				
SLC6A11	6538	broad.mit.edu	37	3	10979978	10979978	+	Missense_Mutation	SNP	C	C	T	rs142712079	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10979978C>T	ENST00000254488.2	+	14	1855	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	597					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R597W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGAAAATGCGGGGCAAGCT	0.547													C|||	7	0.00139776	0.0	0.0	5008	,	,		18261	0.0069		0.0	False		,,,				2504	0.0					ENST00000254488.2																			1	Substitution - Missense(1)	p.R597W(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1789-1791)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 11		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	117.0	108.0	111.0		1789	1.5	1.0	3	dbSNP_134	111	0,8600		0,0,4300	yes	missense	SLC6A11	NM_014229.1	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	597/633	10979978	2,13004	2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10979978C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1789C>T	3.37:g.10979978C>T	ENSP00000254488:p.Arg597Trp						p.R597W	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	14	1855	+			597					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1789C>T	CCDS2602.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	14.81	2.647594	0.47258	4.54E-4	0.0	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	4.81	1.53	0.23141	.	0.361639	0.26542	N	0.023798	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	B	0.18863	0.031	B	0.12837	0.008	T	0.56189	-0.8020	10	0.51188	T	0.08	.	13.7065	0.62644	0.5834:0.4166:0.0:0.0	.	597	P48066	S6A11_HUMAN	W	597	ENSP00000254488:R597W	ENSP00000254488:R597W	R	+	1	2	SLC6A11	10954978	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.124000	0.42006	0.418000	0.25898	0.655000	0.94253	CGG		0.547	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		17	45	0	0	0	1	0	17	45				
UHRF1BP1L	23074	broad.mit.edu	37	12	100478400	100478400	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100478400G>A	ENST00000279907.7	-	10	1354	c.1142C>T	c.(1141-1143)gCa>gTa	p.A381V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A31V|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A381V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	381										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTTTGGTTGCATCACTAAA	0.313																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1141-1143)gCa>gTa		UHRF1 binding protein 1-like							134.0	112.0	120.0					12																	100478400		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478400G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1142C>T	12.37:g.100478400G>A	ENSP00000279907:p.Ala381Val					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A31V|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.A381V	p.A381V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			10	1354	-			381					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1142C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762462	0.89932	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.59083	2.7;2.56;1.37;1.21;0.29	5.48	5.48	0.80851	.	0.053629	0.64402	D	0.000001	T	0.68961	0.3058	L	0.50333	1.59	0.80722	D	1	B;D	0.65815	0.141;0.995	B;P	0.58013	0.041;0.831	T	0.68992	-0.5263	10	0.54805	T	0.06	-18.1061	19.7151	0.96113	0.0:0.0:1.0:0.0	.	381;381	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	V	381;31;381;31;31	ENSP00000279907:A381V;ENSP00000444824:A31V;ENSP00000349285:A381V;ENSP00000448226:A31V;ENSP00000449189:A31V	ENSP00000279907:A381V	A	-	2	0	UHRF1BP1L	99002531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.624000	0.74243	2.742000	0.94016	0.650000	0.86243	GCA		0.313	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		11	48	0	0	0	1	0	11	48				
DLAT	1737	broad.mit.edu	37	11	111904215	111904215	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:111904215G>T	ENST00000280346.6	+	5	1407	c.748G>T	c.(748-750)Gac>Tac	p.D250Y	DLAT_ENST00000537636.1_Missense_Mutation_p.D21Y|DLAT_ENST00000393051.1_Intron|RNU6-893P_ENST00000458841.1_RNA	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	250	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		AAGTGAAGGAGACTTACTGGC	0.458																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(748-750)Gac>Tac		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						80.0	79.0	79.0					11																	111904215		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111904215G>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.748G>T	11.37:g.111904215G>T	ENSP00000280346:p.Asp250Tyr					DLAT_ENST00000393051.1_Intron|DLAT_ENST00000537636.1_Missense_Mutation_p.D21Y	p.D250Y	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	5	1407	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	250			Lipoyl-binding 2.		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.748G>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697992	0.88830	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000531306;ENST00000537636	T;T;T	0.61980	0.06;0.06;0.06	6.16	5.25	0.73442	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93451	0.6802	10	0.87932	D	0	-14.7713	17.677	0.88233	0.0:0.1228:0.8772:0.0	.	250;250	Q86YI5;P10515	.;ODP2_HUMAN	Y	250;218;82;21	ENSP00000280346:D250Y;ENSP00000433432:D82Y;ENSP00000442427:D21Y	ENSP00000280346:D250Y	D	+	1	0	DLAT	111409425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.386000	0.97228	1.607000	0.50170	0.650000	0.86243	GAC		0.458	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		21	14	1	0	1.2644e-06	1	1.31806e-06	21	14				
TEX15	56154	broad.mit.edu	37	8	30704683	30704683	+	Silent	SNP	G	G	A	rs150062151	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30704683G>A	ENST00000256246.2	-	1	1925	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	617					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTGGTGATCGTCATTATTTA	0.378																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1849-1851)gaC>gaT		testis expressed 15		G		0,4406		0,0,2203	100.0	95.0	97.0		1851	2.7	0.0	8	dbSNP_134	97	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TEX15	NM_031271.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		617/2790	30704683	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30704683G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1851C>T	8.37:g.30704683G>A							p.D617D	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1925	-			617						Silent	SNP	ENST00000256246.2	37	c.1851C>T	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			17	66	0	0	0	1	0	17	66				
ICE2	79664	broad.mit.edu	37	15	60740235	60740235	+	Silent	SNP	G	G	A	rs146744595		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60740235G>A	ENST00000261520.4	-	11	2463	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	NARG2_ENST00000439632.1_Silent_p.L606L	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGCAGCGTACGAGTAACAACA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17600	0.001		0.0	False		,,,				2504	0.0					ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2227-2229)ctC>ctT		NMDA receptor regulated 2							154.0	145.0	148.0					15																	60740235		2203	4300	6503	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60740235G>A																												ENST00000261520.4:c.2229C>T	15.37:g.60740235G>A						NARG2_ENST00000439632.1_Silent_p.L606L	p.L743L	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			11	2463	-			743						Silent	SNP	ENST00000261520.4	37	c.2229C>T	CCDS10176.1																																																																																				0.388	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			30	70	0	0	0	1	0	30	70				
RAB3GAP1	22930	broad.mit.edu	37	2	135893244	135893244	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135893244G>A	ENST00000264158.8	+	17	1708	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000539493.1_Silent_p.Q511Q|RAB3GAP1_ENST00000442034.1_Silent_p.Q555Q	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	555					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CAGGAGACCAGTTGGTGCCAG	0.418																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1663-1665)caG>caA		RAB3 GTPase activating protein subunit 1 (catalytic)							68.0	67.0	67.0					2																	135893244		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893244G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1665G>A	2.37:g.135893244G>A						RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.Q555Q|RAB3GAP1_ENST00000539493.1_Silent_p.Q511Q	p.Q555Q	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1708	+			555					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.1665G>A	CCDS33294.1																																																																																				0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		15	26	0	0	0	1	0	15	26				
CHST3	9469	broad.mit.edu	37	10	73767211	73767211	+	Missense_Mutation	SNP	C	C	T	rs267606735		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73767211C>T	ENST00000373115.4	+	3	859	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	141					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ATGGCCACCACGCGCACCGGC	0.667																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(421-423)aCg>aTg		carbohydrate (chondroitin 6) sulfotransferase 3							19.0	18.0	18.0					10																	73767211		2200	4296	6496	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767211C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.422C>T	10.37:g.73767211C>T	ENSP00000362207:p.Thr141Met						p.T141M	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	859	+			141					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.422C>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626555	0.87560	.	.	ENSG00000122863	ENST00000373115	T	0.80738	-1.41	5.68	5.68	0.88126	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87237	0.2264	10	0.59425	D	0.04	-37.1686	18.7833	0.91944	0.0:1.0:0.0:0.0	.	141	Q7LGC8	CHST3_HUMAN	M	141	ENSP00000362207:T141M	ENSP00000362207:T141M	T	+	2	0	CHST3	73437217	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	7.730000	0.84881	2.698000	0.92095	0.561000	0.74099	ACG		0.667	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		6	8	0	0	0	1	0	6	8				
AGPAT4	56895	broad.mit.edu	37	6	161575257	161575257	+	Missense_Mutation	SNP	G	G	A	rs141441479		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:161575257G>A	ENST00000320285.4	-	4	646	c.434C>T	c.(433-435)tCg>tTg	p.S145L	AGPAT4_ENST00000366906.5_Missense_Mutation_p.S83L|AGPAT4_ENST00000366911.5_Silent_p.F88F|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	145					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCACTTGCGCGAACAGAAGAC	0.542																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(433-435)tCg>tTg		1-acylglycerol-3-phosphate O-acyltransferase 4			LEU/SER	0,4406		0,0,2203	137.0	120.0	126.0		434	2.3	1.0	6	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	AGPAT4	NM_020133.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	145/379	161575257	1,13005	2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575257G>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.434C>T	6.37:g.161575257G>A	ENSP00000314036:p.Ser145Leu					AGPAT4_ENST00000366911.5_Silent_p.F88F|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.S83L|AGPAT4_ENST00000366908.5_3'UTR	p.S145L	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	646	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	145					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.434C>T	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021949	0.54576	0.0	1.16E-4	ENSG00000026652	ENST00000320285;ENST00000366906	D;D	0.93426	-3.22;-3.22	4.25	2.32	0.28847	Phospholipid/glycerol acyltransferase (2);	0.274574	0.38837	N	0.001551	D	0.87744	0.6254	M	0.77616	2.38	0.80722	D	1	B;B	0.32829	0.386;0.064	B;B	0.25884	0.064;0.039	D	0.85352	0.1102	10	0.66056	D	0.02	-19.0778	12.3961	0.55386	0.0:0.0:0.306:0.694	.	145;145	B4DHC0;Q9NRZ5	.;PLCD_HUMAN	L	145;83	ENSP00000314036:S145L;ENSP00000355873:S83L	ENSP00000314036:S145L	S	-	2	0	AGPAT4	161495247	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	4.360000	0.59455	0.361000	0.24292	0.651000	0.88453	TCG		0.542	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		26	27	0	0	0	1	0	26	27				
SEMA6A	57556	broad.mit.edu	37	5	115822496	115822496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115822496C>T	ENST00000343348.6	-	10	1698	c.911G>A	c.(910-912)cGt>cAt	p.R304H	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R304H|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R304H	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	304	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCGTTGATACGAATCACATC	0.463																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(910-912)cGt>cAt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							142.0	137.0	139.0					5																	115822496		1995	4196	6191	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115822496C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.911G>A	5.37:g.115822496C>T	ENSP00000345512:p.Arg304His					CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R304H|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R304H	p.R304H	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	10	1698	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	304			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.911G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152368	0.21371	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.22336	1.96;1.96;1.96	6.07	-0.515	0.11954	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.173838	0.64402	N	0.000007	T	0.07999	0.0200	N	0.04355	-0.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	10	0.21540	T	0.41	.	9.734	0.40377	0.0:0.315:0.0:0.685	.	304;304	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	H	304	ENSP00000345512:R304H;ENSP00000257414:R304H;ENSP00000424388:R304H	ENSP00000257414:R304H	R	-	2	0	SEMA6A	115850395	0.938000	0.31826	0.080000	0.20451	0.949000	0.60115	1.421000	0.34815	-0.026000	0.13895	-0.224000	0.12420	CGT		0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		41	53	0	0	0	1	0	41	53				
TSSC2	650368	broad.mit.edu	37	11	3405398	3405398	+	RNA	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3405398T>C	ENST00000529482.1	+	0	171									tumor suppressing subtransferable candidate 2 pseudogene																		ATTCTACAGGTGGTGAAGCTC	0.483																																						ENST00000529482.1																			0																																																			0							g.chr11:3405398T>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3405398T>C														0	171	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.483	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	2	0	0	0	1	0	3	2				
PHKA1	5255	broad.mit.edu	37	X	71800950	71800950	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:71800950C>T	ENST00000373542.4	-	32	3733	c.3574G>A	c.(3574-3576)Gca>Aca	p.A1192T	PHKA1_ENST00000373545.3_Missense_Mutation_p.A1150T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1179T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1120T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1209T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1192					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCACTGGGTGCACTGTCATAC	0.532																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3448-3450)Gca>Aca		phosphorylase kinase, alpha 1 (muscle)							116.0	91.0	100.0					X																	71800950		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71800950C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3574G>A	X.37:g.71800950C>T	ENSP00000362643:p.Ala1192Thr					PHKA1_ENST00000373539.3_Missense_Mutation_p.A1209T|PHKA1_ENST00000339490.3_Missense_Mutation_p.A1179T|PHKA1_ENST00000373542.4_Missense_Mutation_p.A1192T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1120T	p.A1150T			P46020	KPB1_HUMAN			32	3886	-	Renal(35;0.156)		1192					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3448G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171073	0.94807	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.999;0.995;0.999	D	0.97673	1.0168	10	0.49607	T	0.09	-10.115	14.3055	0.66382	0.0:1.0:0.0:0.0	.	1120;1150;1179;1192	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	T	1150;1192;1120;1179;1209	ENSP00000362646:A1150T;ENSP00000362643:A1192T;ENSP00000441251:A1120T;ENSP00000342469:A1179T;ENSP00000362640:A1209T	ENSP00000342469:A1179T	A	-	1	0	PHKA1	71717675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.400000	0.79949	1.952000	0.56665	0.538000	0.68166	GCA		0.532	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			8	15	0	0	0	1	0	8	15				
YWHAEP7	284100	broad.mit.edu	37	17	36233925	36233925	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36233925G>A	ENST00000590732.1	-	0	114					NR_024178.1																						CACCTCATGGGCCCAGCCTAA	0.338																																						ENST00000590732.1																			0																																																			0							g.chr17:36233925G>A																													17.37:g.36233925G>A								NR_024178.1						0	114	-									RNA	SNP	ENST00000590732.1	37																																																																																						0.338	RP11-115K3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000451947.1			8	26	0	0	0	1	0	8	26				
ATP6V0B	533	broad.mit.edu	37	1	44442475	44442475	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44442475G>A	ENST00000472174.2	+	6	772	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G174S|B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G80S|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.G127S|ATP6V0B_ENST00000472277.1_3'UTR|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G80S	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	127					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAAGGCCATCGGCCATCGGAA	0.527																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(379-381)Ggc>Agc		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							67.0	64.0	65.0					1																	44442475		2203	4300	6503	SO:0001583	missense	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442475G>A	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.379G>A	1.37:g.44442475G>A	ENSP00000431605:p.Gly127Ser					ATP6V0B_ENST00000471859.2_Missense_Mutation_p.G174S|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000472174.2_Missense_Mutation_p.G127S|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.G80S|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.G80S	p.G127S			Q99437	VATO_HUMAN			6	476	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	127					D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	c.379G>A	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827252	0.32329	.	.	ENSG00000117410	ENST00000472505;ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.26955	0.0660	N	0.02802	-0.49	0.80722	D	1	B;B	0.14805	0.001;0.011	B;B	0.10450	0.001;0.005	T	0.23511	-1.0186	9	0.05721	T	0.95	-8.0459	16.6079	0.84836	0.0:0.0:1.0:0.0	.	127;127	Q99437;E9PNL3	VATO_HUMAN;.	S	80;127;127;80;174;80	.	ENSP00000236067:G80S	G	+	1	0	ATP6V0B	44215062	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.336000	0.90033	2.447000	0.82792	0.655000	0.94253	GGC		0.527	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		17	20	0	0	0	1	0	17	20				
NFKBIZ	64332	broad.mit.edu	37	3	101572708	101572708	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101572708G>A	ENST00000326172.5	+	5	1452		c.e5+1		NFKBIZ_ENST00000326151.5_Splice_Site|NFKBIZ_ENST00000394054.2_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGGTGACACGTGAGTATTCT	0.378																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e5+1		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							44.0	43.0	43.0					3																	101572708		2003	3800	5803	SO:0001630	splice_region_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572708G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1337+1G>A	3.37:g.101572708G>A						NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site		NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1452	+								B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Splice_Site	SNP	ENST00000326172.5	37		CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876009	0.72180	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0835	0.97793	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKBIZ	103055398	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.786000	0.91826	2.822000	0.97130	0.563000	0.77884	.		0.378	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	Intron	14	23	0	0	0	1	0	14	23				
IKZF4	64375	broad.mit.edu	37	12	56420735	56420735	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56420735C>T	ENST00000262032.5	+	8	824	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	IKZF4_ENST00000547791.1_Missense_Mutation_p.R108W|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000431367.2_Missense_Mutation_p.R51W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R153W			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	153					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGGGCATCCGGCTGCCCAA	0.577																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(457-459)Cgg>Tgg		IKAROS family zinc finger 4 (Eos)							35.0	36.0	36.0					12																	56420735		2050	4180	6230	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56420735C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.457C>T	12.37:g.56420735C>T	ENSP00000262032:p.Arg153Trp					IKZF4_ENST00000431367.2_Missense_Mutation_p.R51W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R108W|IKZF4_ENST00000548601.1_3'UTR|IKZF4_ENST00000547167.1_Missense_Mutation_p.R153W	p.R153W			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	824	+			153					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.457C>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266137	0.95399	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.09630	2.97;2.99;2.97;2.96	5.22	5.22	0.72569	.	0.000000	0.44483	D	0.000446	T	0.39436	0.1078	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.987;0.996	T	0.33828	-0.9853	10	0.87932	D	0	-16.5886	17.7172	0.88341	0.0:1.0:0.0:0.0	.	51;108;112;153	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	W	153;51;153;108	ENSP00000262032:R153W;ENSP00000412101:R51W;ENSP00000448419:R153W;ENSP00000450020:R108W	ENSP00000262032:R153W	R	+	1	2	IKZF4	54707002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.765000	0.55272	2.714000	0.92807	0.561000	0.74099	CGG		0.577	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		7	10	0	0	0	1	0	7	10				
FAM184A	79632	broad.mit.edu	37	6	119324195	119324195	+	Missense_Mutation	SNP	G	G	A	rs377670098		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:119324195G>A	ENST00000338891.7	-	9	2400	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R533C|FAM184A_ENST00000521531.1_Missense_Mutation_p.R653C|FAM184A_ENST00000368475.4_Missense_Mutation_p.R533C	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	653						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AACTCTTCACGAAGTTTAGAA	0.343																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1957-1959)Cgt>Tgt		family with sequence similarity 184, member A		G	CYS/ARG,CYS/ARG	1,3667		0,1,1833	89.0	83.0	84.0		1597,1957	5.1	1.0	6		84	0,8180		0,0,4090	no	missense,missense	FAM184A	NM_001100411.1,NM_024581.4	180,180	0,1,5923	AA,AG,GG		0.0,0.0273,0.0084	probably-damaging,probably-damaging	533/972,653/1141	119324195	1,11847	1834	4090	5924	SO:0001583	missense	79632							g.chr6:119324195G>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1957C>T	6.37:g.119324195G>A	ENSP00000342604:p.Arg653Cys					FAM184A_ENST00000521531.1_Missense_Mutation_p.R653C|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R533C|FAM184A_ENST00000368475.4_Missense_Mutation_p.R533C	p.R653C	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			9	2400	-			653					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1957C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288176	0.80803	2.73E-4	0.0	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.97	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.989;0.998	T	0.56878	-0.7906	10	0.72032	D	0.01	-1.5073	16.5369	0.84375	0.0:0.0:0.8682:0.1318	.	653;533;653	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	C	653;533;533;653	ENSP00000342604:R653C;ENSP00000326608:R533C;ENSP00000357460:R533C;ENSP00000430442:R653C	ENSP00000342604:R653C	R	-	1	0	FAM184A	119365894	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.314000	0.72848	1.509000	0.48786	0.650000	0.86243	CGT		0.343	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		19	35	0	0	0	1	0	19	35				
PCDHGC3	5098	broad.mit.edu	37	5	140856593	140856593	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140856593C>T	ENST00000308177.3	+	1	1014	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	304	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGGGATGCTGACAATCAA	0.542																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(910-912)Ctg>Ttg									74.0	74.0	74.0					5																	140856593		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140856593C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.910C>T	5.37:g.140856593C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.L304L	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1014	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.910C>T	CCDS4261.1																																																																																				0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		34	39	0	0	0	1	0	34	39				
SIGMAR1	10280	broad.mit.edu	37	9	34635742	34635742	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:34635742C>T	ENST00000277010.4	-	4	632	c.559G>A	c.(559-561)Gcc>Acc	p.A187T	SIGMAR1_ENST00000378892.1_Missense_Mutation_p.A98T|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.A156T	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	187					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	ACAGTGTCGGCCAGCGCGAAG	0.622																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(292-294)Gcc>Acc		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						125.0	108.0	114.0					9																	34635742		2203	4300	6503	SO:0001583	missense	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635742C>T	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.559G>A	9.37:g.34635742C>T	ENSP00000277010:p.Ala187Thr					SIGMAR1_ENST00000477726.1_Missense_Mutation_p.A156T|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Missense_Mutation_p.A187T	p.A98T			Q99720	SGMR1_HUMAN			3	719	-			187					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	37	c.292G>A	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033622	0.75504	.	.	ENSG00000147955	ENST00000378892;ENST00000277010;ENST00000360710;ENST00000477726	T;T;T	0.65178	-0.14;-0.14;-0.14	4.43	3.51	0.40186	.	0.121312	0.56097	D	0.000040	T	0.71728	0.3374	M	0.88450	2.955	0.50467	D	0.999875	P;B;P	0.49559	0.925;0.234;0.86	P;B;P	0.48270	0.572;0.244;0.453	T	0.76798	-0.2826	10	0.59425	D	0.04	-1.6638	11.5503	0.50716	0.0:0.9101:0.0:0.0899	.	156;187;167	A2A3U5;Q99720;Q99720-2	.;SGMR1_HUMAN;.	T	98;187;153;156	ENSP00000368170:A98T;ENSP00000277010:A187T;ENSP00000420022:A156T	ENSP00000277010:A187T	A	-	1	0	SIGMAR1	34625742	1.000000	0.71417	0.808000	0.32385	0.891000	0.51852	4.496000	0.60360	1.053000	0.40415	0.462000	0.41574	GCC		0.622	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		21	17	0	0	0	1	0	21	17				
DNAH1	25981	broad.mit.edu	37	3	52391665	52391665	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52391665C>T	ENST00000420323.2	+	23	4155	c.3894C>T	c.(3892-3894)gaC>gaT	p.D1298D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1298	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATGCTGGACAGCCTGCGGG	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3892-3894)gaC>gaT		dynein, axonemal, heavy chain 1							32.0	35.0	34.0					3																	52391665		2047	4189	6236	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52391665C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3894C>T	3.37:g.52391665C>T							p.D1298D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	23	4155	+			1298			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.3894C>T	CCDS46842.1																																																																																				0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	8	0	0	0	1	0	4	8				
CBLB	868	broad.mit.edu	37	3	105377969	105377969	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105377969C>T	ENST00000264122.4	-	19	3115	c.2794G>A	c.(2794-2796)Gtc>Atc	p.V932I	CBLB_ENST00000394027.3_Missense_Mutation_p.V910I|CBLB_ENST00000407712.1_Missense_Mutation_p.V147I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	932	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCATCGACATTTTCCAAT	0.517			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(2794-2796)Gtc>Atc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							110.0	110.0	110.0					3																	105377969		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105377969C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2794G>A	3.37:g.105377969C>T	ENSP00000264122:p.Val932Ile					CBLB_ENST00000407712.1_Missense_Mutation_p.V147I|CBLB_ENST00000394027.3_Missense_Mutation_p.V910I	p.V932I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			19	3115	-			932			UBA.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2794G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092613	0.76756	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.65	5.65	0.86999	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.130360	0.50627	D	0.000106	T	0.56906	0.2017	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.966;0.997;0.997	P;D;D	0.79108	0.801;0.992;0.992	T	0.67348	-0.5693	10	0.87932	D	0	-14.3343	19.7289	0.96175	0.0:1.0:0.0:0.0	.	910;932;910	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	I	271;932;147;910	ENSP00000377598:V271I;ENSP00000264122:V932I;ENSP00000384170:V147I;ENSP00000377595:V910I	ENSP00000264122:V932I	V	-	1	0	CBLB	106860659	1.000000	0.71417	0.935000	0.37517	0.909000	0.53808	5.023000	0.64084	2.649000	0.89929	0.655000	0.94253	GTC		0.517	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		37	48	0	0	0	1	0	37	48				
COL1A2	1278	broad.mit.edu	37	7	94039099	94039099	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94039099G>A	ENST00000297268.6	+	19	1472	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	334			G -> C (in OI2).		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCCCTGTTGGTGCTGCCGGT	0.567										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1000-1002)gGt>gAt		collagen, type I, alpha 2	Collagenase(DB00048)						108.0	103.0	105.0					7																	94039099		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039099G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1001G>A	7.37:g.94039099G>A	ENSP00000297268:p.Gly334Asp	HNSCC(75;0.22)					p.G334D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1472	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		334		G -> C (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1001G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995449	0.74703	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99176	-5.52	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97427	1.0013	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	334	P08123	CO1A2_HUMAN	D	334;335	ENSP00000297268:G334D	ENSP00000297268:G334D	G	+	2	0	COL1A2	93877035	1.000000	0.71417	0.996000	0.52242	0.530000	0.34684	9.411000	0.97342	2.802000	0.96397	0.655000	0.94253	GGT		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		10	20	0	0	0	1	0	10	20				
SMARCA2	6595	broad.mit.edu	37	9	2060865	2060865	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:2060865G>T	ENST00000382203.1	+	9	1780	c.1571G>T	c.(1570-1572)aGg>aTg	p.R524M	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R524M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R524M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R524M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	524					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGAAAGACAGGCGTTTAGCT	0.443																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1570-1572)aGg>aTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							106.0	101.0	102.0					9																	2060865		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2060865G>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1571G>T	9.37:g.2060865G>T	ENSP00000371638:p.Arg524Met					SMARCA2_ENST00000349721.2_Missense_Mutation_p.R524M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R524M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R524M	p.R524M			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	9	1780	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	524					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1571G>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486517	0.84854	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.17	5.17	0.71159	.	0.055269	0.64402	D	0.000001	T	0.46870	0.1415	L	0.43152	1.355	0.80722	D	1	P;P;P	0.50528	0.897;0.936;0.894	P;P;B	0.48141	0.492;0.568;0.365	T	0.46952	-0.9154	10	0.59425	D	0.04	-30.7646	18.8772	0.92343	0.0:0.0:1.0:0.0	.	125;524;524	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	524	ENSP00000265773:R524M;ENSP00000349788:R524M;ENSP00000392081:R524M;ENSP00000371638:R524M;ENSP00000371629:R524M	ENSP00000265773:R524M	R	+	2	0	SMARCA2	2050865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.114000	0.77103	2.673000	0.90976	0.655000	0.94253	AGG		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		16	32	1	0	3.32936e-07	1	3.48341e-07	16	32				
FAM35A	54537	broad.mit.edu	37	10	88946859	88946859	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88946859C>T	ENST00000298784.1	+	8	2324	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V	FAM35A_ENST00000298786.4_Missense_Mutation_p.A806V	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	737										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TTAATGACTGCCATTGATGGA	0.363																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2416-2418)gCc>gTc		family with sequence similarity 35, member A							186.0	154.0	165.0					10																	88946859		2203	4300	6503	SO:0001583	missense	54537							g.chr10:88946859C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2210C>T	10.37:g.88946859C>T	ENSP00000298784:p.Ala737Val					FAM35A_ENST00000298784.1_Missense_Mutation_p.A737V	p.A806V			Q86V20	FA35A_HUMAN			9	2531	+			737					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.2417C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886122	0.00527	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.15017	2.57;2.46;2.46	3.13	1.95	0.26073	.	0.302761	0.30667	N	0.009135	T	0.03011	0.0089	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44097	-0.9350	10	0.02654	T	1	-0.8585	6.5126	0.22230	0.0:0.2046:0.0:0.7954	.	460;737	Q5VSZ0;Q86V20	.;FA35A_HUMAN	V	806;737;737	ENSP00000298786:A806V;ENSP00000298784:A737V;ENSP00000351064:A737V	ENSP00000298784:A737V	A	+	2	0	FAM35A	88936839	0.008000	0.16893	0.004000	0.12327	0.010000	0.07245	1.777000	0.38604	0.405000	0.25532	-1.441000	0.01070	GCC		0.363	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		11	29	0	0	0	1	0	11	29				
SH3BP5	9467	broad.mit.edu	37	3	15311378	15311378	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15311378G>A	ENST00000383791.3	-	4	557	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	113					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGAGCTTCCAGCTGAGCCTGT	0.567																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(337-339)Ctg>Ttg		SH3-domain binding protein 5 (BTK-associated)							86.0	90.0	88.0					3																	15311378		2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15311378G>A	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.337C>T	3.37:g.15311378G>A						SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	p.L113L	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			4	557	-			113					B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.337C>T	CCDS2625.2																																																																																				0.567	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		30	56	0	0	0	1	0	30	56				
GPR37	2861	broad.mit.edu	37	7	124404888	124404888	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:124404888A>G	ENST00000303921.2	-	1	793	c.143T>C	c.(142-144)gTg>gCg	p.V48A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	48					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCGCTGGATCACTGTAGGTGC	0.632																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(142-144)gTg>gCg		G protein-coupled receptor 37 (endothelin receptor type B-like)							26.0	29.0	28.0					7																	124404888		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404888A>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.143T>C	7.37:g.124404888A>G	ENSP00000306449:p.Val48Ala						p.V48A	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	793	-			48					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.143T>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	9.047	0.991204	0.18966	.	.	ENSG00000170775	ENST00000303921	T	0.07567	3.18	5.31	1.37	0.22104	.	1.268090	0.05645	N	0.584067	T	0.05914	0.0154	N	0.08118	0	0.20926	N	0.999825	B	0.11235	0.004	B	0.06405	0.002	T	0.44081	-0.9351	10	0.59425	D	0.04	-1.7881	10.7143	0.46002	0.5141:0.4859:0.0:0.0	.	48	O15354	GPR37_HUMAN	A	48	ENSP00000306449:V48A	ENSP00000306449:V48A	V	-	2	0	GPR37	124192124	0.000000	0.05858	0.364000	0.25888	0.093000	0.18481	-0.175000	0.09825	0.073000	0.16731	0.533000	0.62120	GTG		0.632	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		5	15	0	0	0	1	0	5	15				
PACRG	135138	broad.mit.edu	37	6	163235234	163235234	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:163235234C>T	ENST00000337019.3	+	3	436	c.212C>T	c.(211-213)gCa>gTa	p.A71V	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.A71V|PACRG_ENST00000366888.2_Missense_Mutation_p.A71V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	71					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAGCCCACAGCATTTCGAAAA	0.448																																						ENST00000337019.3																			0				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(211-213)gCa>gTa		PARK2 co-regulated							100.0	106.0	104.0					6																	163235234		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163235234C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.212C>T	6.37:g.163235234C>T	ENSP00000337946:p.Ala71Val					PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.A71V|PACRG_ENST00000366888.2_Missense_Mutation_p.A71V	p.A71V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	3	436	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	71					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.212C>T	CCDS5284.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363593	0.41902	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.46063	0.88	5.66	5.66	0.87406	.	0.279502	0.38897	N	0.001525	T	0.20007	0.0481	L	0.31578	0.945	0.21290	N	0.999734	B;B	0.21821	0.016;0.061	B;B	0.22152	0.009;0.038	T	0.04607	-1.0939	10	0.27785	T	0.31	-6.0121	19.7468	0.96255	0.0:1.0:0.0:0.0	.	71;71	Q96M98-2;Q96M98	.;PACRG_HUMAN	V	71	ENSP00000337946:A71V	ENSP00000337946:A71V	A	+	2	0	PACRG	163155224	0.995000	0.38212	0.112000	0.21494	0.995000	0.86356	4.056000	0.57448	2.678000	0.91216	0.563000	0.77884	GCA		0.448	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		19	105	0	0	0	1	0	19	105				
NAT9	26151	broad.mit.edu	37	17	72769791	72769791	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:72769791C>A	ENST00000357814.3	-	3	187	c.114G>T	c.(112-114)caG>caT	p.Q38H	TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000580632.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583476.1_Missense_Mutation_p.Q38H|TMEM104_ENST00000417024.2_5'Flank|NAT9_ENST00000581136.1_Missense_Mutation_p.Q38H|NAT9_ENST00000583757.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580301.1_Missense_Mutation_p.Q37H|TMEM104_ENST00000335464.5_5'Flank|NAT9_ENST00000578822.1_Missense_Mutation_p.Q43H|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Missense_Mutation_p.Q38H|NAT9_ENST00000582870.1_Missense_Mutation_p.Q42H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	38	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						CTGTCAAACGCTGCAGCTCCT	0.577																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(112-114)caG>caT		N-acetyltransferase 9 (GCN5-related, putative)							104.0	95.0	98.0					17																	72769791		2203	4300	6503	SO:0001583	missense	26151					protein complex	N-acetyltransferase activity	g.chr17:72769791C>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.114G>T	17.37:g.72769791C>A	ENSP00000350467:p.Gln38His					NAT9_ENST00000582524.1_Missense_Mutation_p.Q38H|NAT9_ENST00000580632.1_Missense_Mutation_p.Q37H|NAT9_ENST00000580301.1_Missense_Mutation_p.Q37H|NAT9_ENST00000578822.1_Missense_Mutation_p.Q43H|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000583757.1_Missense_Mutation_p.Q37H|NAT9_ENST00000582870.1_Missense_Mutation_p.Q42H|NAT9_ENST00000581136.1_Missense_Mutation_p.Q38H|NAT9_ENST00000583476.1_Missense_Mutation_p.Q38H	p.Q38H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			3	187	-			38			N-acetyltransferase.		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	ENST00000357814.3	37	c.114G>T	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498765	0.44455	.	.	ENSG00000109065	ENST00000357814	T	0.46451	0.87	4.87	4.87	0.63330	Acyl-CoA N-acyltransferase (2);	0.059235	0.64402	D	0.000001	T	0.68622	0.3021	M	0.92691	3.335	0.47308	D	0.999385	D;D	0.69078	0.989;0.997	D;D	0.69307	0.914;0.963	T	0.72218	-0.4357	10	0.31617	T	0.26	-13.4024	12.8094	0.57631	0.0:0.9203:0.0:0.0797	.	37;38	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	H	38	ENSP00000350467:Q38H	ENSP00000350467:Q38H	Q	-	3	2	NAT9	70281386	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.915000	0.63355	2.406000	0.81754	0.313000	0.20887	CAG		0.577	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		17	36	1	0	5.03518e-11	1	5.40566e-11	17	36				
SENP1	29843	broad.mit.edu	37	12	48477397	48477397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48477397G>A	ENST00000004980.5	-	6	1007	c.529C>T	c.(529-531)Cga>Tga	p.R177*	SENP1_ENST00000549518.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.R177*|RNU6-1203P_ENST00000410703.1_RNA|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.R177*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTAACATGTCGCCTCTGAGTT	0.398																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(529-531)Cga>Tga		SUMO1/sentrin specific peptidase 1							113.0	106.0	108.0					12																	48477397		1864	4099	5963	SO:0001587	stop_gained	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48477397G>A	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.529C>T	12.37:g.48477397G>A	ENSP00000004980:p.Arg177*					SENP1_ENST00000549595.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000549518.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.R177*|SENP1_ENST00000339976.6_3'UTR	p.R177*			Q9P0U3	SENP1_HUMAN			6	1007	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	177					A8K7P5|Q86XC8	Nonsense_Mutation	SNP	ENST00000004980.5	37	c.529C>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366229	0.61513	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	.	.	.	3.96	3.96	0.45880	.	0.080001	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3081	12.8877	0.58053	0.0:0.0:0.8365:0.1635	.	.	.	.	X	177	.	ENSP00000004980:R177X	R	-	1	2	SENP1	46763664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.949000	0.40313	2.508000	0.84585	0.655000	0.94253	CGA		0.398	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		10	16	0	0	0	1	0	10	16				
ZFYVE28	57732	broad.mit.edu	37	4	2306040	2306040	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:2306040G>A	ENST00000290974.2	-	8	2366	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A646V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A606V|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	676					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCCTGAGGCGCCTCGTGAGC	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2026-2028)gCg>gTg		zinc finger, FYVE domain containing 28							33.0	38.0	37.0					4																	2306040		2200	4290	6490	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306040G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2027C>T	4.37:g.2306040G>A	ENSP00000290974:p.Ala676Val					ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A646V|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A606V	p.A676V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2366	-			676					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2027C>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	g	5.403	0.259464	0.10239	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58506	0.34;0.33;0.34	3.78	-7.56	0.01322	.	1.717730	0.02785	N	0.121401	T	0.34019	0.0883	N	0.22421	0.69	0.09310	N	1	B;B	0.19445	0.036;0.002	B;B	0.12156	0.007;0.001	T	0.10543	-1.0625	10	0.27082	T	0.32	.	1.4752	0.02425	0.3196:0.1647:0.3628:0.1529	.	646;676	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	V	676;646;606	ENSP00000290974:A676V;ENSP00000425706:A646V;ENSP00000426299:A606V	ENSP00000290974:A676V	A	-	2	0	ZFYVE28	2275838	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.831000	0.01698	-1.956000	0.01022	-4.423000	0.00006	GCG		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		20	29	0	0	0	1	0	20	29				
CARD14	79092	broad.mit.edu	37	17	78169064	78169064	+	Silent	SNP	G	G	A	rs564427787		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:78169064G>A	ENST00000573882.1	+	12	1967	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	CARD14_ENST00000570421.1_Silent_p.A477A|CARD14_ENST00000392434.2_Silent_p.A240A|CARD14_ENST00000344227.2_Silent_p.A477A|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	477					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCCCCGCGCCCCCCAGCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17333	0.0		0.0	False		,,,				2504	0.001					ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1429-1431)gcG>gcA		caspase recruitment domain family, member 14							27.0	29.0	29.0					17																	78169064		2202	4300	6502	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78169064G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1431G>A	17.37:g.78169064G>A						CARD14_ENST00000344227.2_Silent_p.A477A|CARD14_ENST00000570421.1_Silent_p.A477A|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.A240A	p.A477A			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		12	1967	+	all_neural(118;0.0952)		477					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1431G>A	CCDS11768.1																																																																																				0.657	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			19	1	0	0	0	1	0	19	1				
TMCO3	55002	broad.mit.edu	37	13	114164673	114164673	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114164673C>A	ENST00000434316.2	+	7	1518	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.L387M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	387						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTCCACGTGTCTGTCCTTGTC	0.532																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1159-1161)Ctg>Atg		transmembrane and coiled-coil domains 3							190.0	157.0	168.0					13																	114164673		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114164673C>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1159C>A	13.37:g.114164673C>A	ENSP00000389399:p.Leu387Met					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.L387M	p.L387M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		7	1518	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	387					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1159C>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766478	0.31228	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T;T	0.23348	1.91;1.91	4.99	-3.24	0.05094	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.51669	0.1688	M	0.88450	2.955	0.40712	D	0.982585	D;D	0.76494	0.999;0.998	D;D	0.72625	0.978;0.962	T	0.60172	-0.7315	10	0.72032	D	0.01	-18.7096	14.9293	0.70903	0.0:0.1188:0.0:0.8812	.	387;387	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	M	387	ENSP00000389399:L387M;ENSP00000364540:L387M	ENSP00000364540:L387M	L	+	1	2	TMCO3	113212674	0.822000	0.29219	0.010000	0.14722	0.009000	0.06853	0.080000	0.14802	-0.955000	0.03636	-0.293000	0.09583	CTG		0.532	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		41	50	1	0	2.00842e-17	1	2.21064e-17	41	50				
SMPD4	55627	broad.mit.edu	37	2	130930032	130930032	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:130930032G>T	ENST00000409031.1	-	8	1814	c.666C>A	c.(664-666)gcC>gcA	p.A222A	SMPD4_ENST00000351288.6_Silent_p.A222A|SMPD4_ENST00000339679.7_Silent_p.A109A|SMPD4_ENST00000431183.2_Silent_p.A149A|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000473720.1_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	183					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGATGAAATAGGCACAGTCTG	0.602																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(664-666)gcC>gcA		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						49.0	55.0	53.0					2																	130930032		2203	4300	6503	SO:0001819	synonymous_variant	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930032G>T	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.666C>A	2.37:g.130930032G>T						SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Silent_p.A109A|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000431183.2_Silent_p.A149A|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_Silent_p.A222A|SMPD4_ENST00000473720.1_Intron	p.A222A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			8	1814	-	Colorectal(110;0.1)		183					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	c.666C>A	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.34|10.34	1.322891|1.322891	0.23994|0.23994	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000430682|ENST00000439886	.|.	.|.	.|.	3.31|3.31	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28004|0.28004	-1.0057|-1.0057	4|4	.|.	.|.	.|.	.|.	1.6288|1.6288	0.02728|0.02728	0.1379:0.2:0.4585:0.2035|0.1379:0.2:0.4585:0.2035	.|.	.|.	.|.	.|.	I|H	12|51	.|.	.|.	L|P	-|-	1|2	2|0	SMPD4|SMPD4	130646502|130646502	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	0.048000|0.048000	0.14078|0.14078	0.547000|0.547000	0.28938|0.28938	0.455000|0.455000	0.32223|0.32223	CTA|CCT		0.602	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		13	13	1	0	0.00244969	1	0.00248438	13	13				
NFKB1	4790	broad.mit.edu	37	4	103498131	103498131	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103498131G>A	ENST00000505458.1	+	7	780	c.503G>A	c.(502-504)gGa>gAa	p.G168E	NFKB1_ENST00000600343.1_5'Flank|NFKB1_ENST00000226574.4_Missense_Mutation_p.G169E|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E|NFKB1_ENST00000510638.1_3'UTR			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	168	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TATAATCCTGGACTCTTGGTG	0.493																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(505-507)gGa>gAa		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						139.0	136.0	137.0					4																	103498131		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103498131G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.503G>A	4.37:g.103498131G>A	ENSP00000424790:p.Gly168Glu					NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000505458.1_Missense_Mutation_p.G168E|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E	p.G169E	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	7	973	+		Hepatocellular(203;0.217)	168			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.506G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157277	0.57259	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000507079;ENST00000505458	T;T;T	0.37584	1.19;1.19;1.19	5.27	4.43	0.53597	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.126578	0.52532	N	0.000074	T	0.36303	0.0962	M	0.67397	2.05	0.51767	D	0.999934	B;B	0.23058	0.079;0.021	B;B	0.22152	0.038;0.009	T	0.25467	-1.0131	10	0.62326	D	0.03	.	9.5775	0.39468	0.0748:0.1417:0.7835:0.0	.	168;169	P19838;P19838-2	NFKB1_HUMAN;.	E	169;168;177;168	ENSP00000226574:G169E;ENSP00000378297:G168E;ENSP00000424790:G168E	ENSP00000226574:G169E	G	+	2	0	NFKB1	103717169	1.000000	0.71417	0.798000	0.32154	0.986000	0.74619	5.207000	0.65197	1.226000	0.43582	0.462000	0.41574	GGA		0.493	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			21	27	0	0	0	1	0	21	27				
PRAMEF6	440561	broad.mit.edu	37	1	13001190	13001190	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:13001190T>C	ENST00000376189.1	-	3	592	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T165A|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	165					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGGCAGGTGAGGTATTCA	0.473																																						ENST00000376189.1																			0				NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9						c.(493-495)Acc>Gcc		PRAME family member 6							53.0	93.0	79.0					1																	13001190		1454	2640	4094	SO:0001583	missense	440561							g.chr1:13001190T>C		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.493A>G	1.37:g.13001190T>C	ENSP00000365360:p.Thr165Ala					PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T165A|PRAMEF6_ENST00000376192.5_Intron	p.T165A	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	592	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	165					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.493A>G	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	9.532	1.111034	0.20714	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04603	3.59;3.59;3.59	1.52	0.217	0.15264	.	0.523213	0.19444	N	0.114110	T	0.09291	0.0229	L	0.39467	1.215	0.09310	N	1	D	0.61697	0.99	D	0.73380	0.98	T	0.18366	-1.0339	10	0.44086	T	0.13	.	3.6908	0.08346	0.3357:0.0:0.0:0.6643	.	165	Q5VXH4	PRAM6_HUMAN	A	165	ENSP00000365360:T165A;ENSP00000401281:T165A;ENSP00000347211:T165A	ENSP00000347211:T165A	T	-	1	0	PRAMEF6	12923777	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.089000	0.03376	0.035000	0.15519	0.318000	0.21364	ACC		0.473	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		33	238	0	0	0	1	0	33	238				
PTPN21	11099	broad.mit.edu	37	14	88938739	88938739	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88938739C>T	ENST00000556564.1	-	15	3004	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	PTPN21_ENST00000328736.3_Missense_Mutation_p.R907Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	907	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCAACTAGCCGTTTCTTAAG	0.368																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2719-2721)cGg>cAg		protein tyrosine phosphatase, non-receptor type 21							127.0	115.0	119.0					14																	88938739		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938739C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2720G>A	14.37:g.88938739C>T	ENSP00000452414:p.Arg907Gln					PTPN21_ENST00000328736.3_Missense_Mutation_p.R907Q	p.R907Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			15	3004	-			907			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000556564.1	37	c.2720G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535349	0.85812	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.13089	2.62;2.62	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.059832	0.64402	D	0.000003	T	0.15176	0.0366	L	0.27944	0.81	0.42971	D	0.99443	D	0.54397	0.966	B	0.43889	0.435	T	0.00792	-1.1564	10	0.87932	D	0	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	907	Q16825	PTN21_HUMAN	Q	907	ENSP00000330276:R907Q;ENSP00000452414:R907Q	ENSP00000330276:R907Q	R	-	2	0	PTPN21	88008492	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.953000	0.63624	2.776000	0.95493	0.655000	0.94253	CGG		0.368	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			15	39	0	0	0	1	0	15	39				
PHF14	9678	broad.mit.edu	37	7	11030335	11030335	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:11030335G>A	ENST00000403050.3	+	4	1358	c.906G>A	c.(904-906)tcG>tcA	p.S302S	PHF14_ENST00000445996.2_Silent_p.S17S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	302					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATTAGGACTCGCTGATTCTTG	0.284																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(904-906)tcG>tcA		PHD finger protein 14							62.0	53.0	56.0					7																	11030335		1804	4060	5864	SO:0001819	synonymous_variant	9678						zinc ion binding	g.chr7:11030335G>A	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.906G>A	7.37:g.11030335G>A						PHF14_ENST00000445996.2_Silent_p.S17S	p.S302S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	4	1358	+			302					A7MCZ3|B4DI82	Silent	SNP	ENST00000403050.3	37	c.906G>A	CCDS47542.1																																																																																				0.284	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		4	4	0	0	0	1	0	4	4				
LARP4	113251	broad.mit.edu	37	12	50824352	50824352	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50824352C>T	ENST00000398473.2	+	4	509	c.397C>T	c.(397-399)Cga>Tga	p.R133*	LARP4_ENST00000429001.3_Splice_Site_p.R139*|LARP4_ENST00000522085.1_Splice_Site_p.R133*|LARP4_ENST00000518444.1_Splice_Site_p.R132*|LARP4_ENST00000347328.5_Splice_Site_p.R133*|LARP4_ENST00000518561.1_Splice_Site_p.R63*|LARP4_ENST00000293618.8_Splice_Site_p.R133*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	133	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTGTTTTTCACGGTATTGCTG	0.313																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.e4+1		La ribonucleoprotein domain family, member 4							79.0	70.0	73.0					12																	50824352		1812	4082	5894	SO:0001630	splice_region_variant	113251						nucleotide binding|RNA binding	g.chr12:50824352C>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.398+1C>T	12.37:g.50824352C>T						LARP4_ENST00000429001.3_Splice_Site_p.R139_splice|LARP4_ENST00000293618.8_Splice_Site_p.R133_splice|LARP4_ENST00000518444.1_Splice_Site_p.R132_splice|LARP4_ENST00000347328.5_Splice_Site_p.R133_splice|LARP4_ENST00000518561.1_Splice_Site_p.R63_splice|LARP4_ENST00000522085.1_Splice_Site_p.R133_splice	p.R133_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			4	509	+			133			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	37	c.398_splice	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978303	0.53720	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559	.	.	.	4.75	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4409	0.67318	0.1474:0.8525:0.0:0.0	.	.	.	.	X	133;139;63;133;63;133;133;132;132;63;133;131;63	.	ENSP00000293618:R133X	R	+	1	2	LARP4	49110619	0.703000	0.27826	1.000000	0.80357	0.796000	0.44982	0.477000	0.22196	2.362000	0.80069	0.460000	0.39030	CGA		0.313	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Nonsense_Mutation	13	18	0	0	0	1	0	13	18				
GALC	2581	broad.mit.edu	37	14	88414105	88414105	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:88414105A>G	ENST00000261304.2	-	13	1562	c.1456T>C	c.(1456-1458)Ttc>Ctc	p.F486L	GALC_ENST00000544807.2_Missense_Mutation_p.F430L|GALC_ENST00000393569.2_Missense_Mutation_p.F460L|GALC_ENST00000393568.4_Missense_Mutation_p.F463L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	486					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTACTTGGGAAGGGCTGGGAT	0.438																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1456-1458)Ttc>Ctc		galactosylceramidase							121.0	124.0	123.0					14																	88414105		2047	4207	6254	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88414105A>G	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1456T>C	14.37:g.88414105A>G	ENSP00000261304:p.Phe486Leu					GALC_ENST00000544807.2_Missense_Mutation_p.F430L|GALC_ENST00000393568.4_Missense_Mutation_p.F463L|GALC_ENST00000393569.2_Missense_Mutation_p.F460L	p.F486L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			13	1562	-			486					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1456T>C	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253433	0.59212	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.64830	0.99;0.988;0.992;0.994	P;D;P;D	0.65573	0.789;0.936;0.893;0.935	D	0.94005	0.7279	10	0.24483	T	0.36	-23.4948	16.3636	0.83296	1.0:0.0:0.0:0.0	.	430;463;460;486	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	L	486;430;460;275;463	ENSP00000261304:F486L;ENSP00000437513:F430L;ENSP00000377199:F460L;ENSP00000377198:F463L	ENSP00000261304:F486L	F	-	1	0	GALC	87483858	1.000000	0.71417	0.999000	0.59377	0.308000	0.27856	8.843000	0.92142	2.343000	0.79666	0.533000	0.62120	TTC		0.438	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			15	51	0	0	0	1	0	15	51				
APOB	338	broad.mit.edu	37	2	21231977	21231977	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:21231977G>T	ENST00000233242.1	-	26	7890	c.7763C>A	c.(7762-7764)cCt>cAt	p.P2588H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2588					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGATTTCAGGAACAGTGAA	0.448																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7762-7764)cCt>cAt		apolipoprotein B	Atorvastatin(DB01076)						105.0	97.0	100.0					2																	21231977		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231977G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7763C>A	2.37:g.21231977G>T	ENSP00000233242:p.Pro2588His						p.P2588H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	7890	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2588					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7763C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721840	0.48728	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.16	5.16	0.70880	.	0.000000	0.53938	D	0.000044	T	0.05502	0.0145	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21999	-1.0229	10	0.87932	D	0	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	2588	P04114	APOB_HUMAN	H	2588	ENSP00000233242:P2588H	ENSP00000233242:P2588H	P	-	2	0	APOB	21085482	1.000000	0.71417	0.945000	0.38365	0.353000	0.29299	4.024000	0.57218	2.404000	0.81709	0.561000	0.74099	CCT		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			31	41	1	0	9.65021e-13	1	1.04556e-12	31	41				
CDH6	1004	broad.mit.edu	37	5	31267787	31267787	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31267787C>T	ENST00000265071.2	+	2	472	c.207C>T	c.(205-207)tcC>tcT	p.S69S	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_Silent_p.S14S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	69	Cadherin 1. {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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACACAGGATCCGATTATCAGT	0.448																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(205-207)tcC>tcT		cadherin 6, type 2, K-cadherin (fetal kidney)							98.0	102.0	101.0					5																	31267787		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31267787C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.207C>T	5.37:g.31267787C>T						CDH6_ENST00000514738.1_Silent_p.S14S	p.S69S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			2	472	+			69			Cadherin 1.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.207C>T	CCDS3894.1																																																																																				0.448	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		18	36	0	0	0	1	0	18	36				
RELT	84957	broad.mit.edu	37	11	73103308	73103308	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73103308C>T	ENST00000064780.2	+	6	681	c.420C>T	c.(418-420)agC>agT	p.S140S	RELT_ENST00000393580.2_Silent_p.S140S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	140						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGCCAGCAGCGGTGGTGAGA	0.672																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(418-420)agC>agT		RELT tumor necrosis factor receptor							28.0	30.0	29.0					11																	73103308		2197	4290	6487	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103308C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.420C>T	11.37:g.73103308C>T						RELT_ENST00000393580.2_Silent_p.S140S	p.S140S	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	681	+			140					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.420C>T	CCDS8222.1																																																																																				0.672	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		9	13	0	0	0	1	0	9	13				
LRAT	9227	broad.mit.edu	37	4	155665867	155665867	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:155665867C>T	ENST00000336356.3	+	2	642	c.389C>T	c.(388-390)tCc>tTc	p.S130F	LRAT_ENST00000507827.1_Missense_Mutation_p.S130F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	130					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTGGACGAGTCCCTCCAGAAA	0.582																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(388-390)tCc>tTc		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						59.0	63.0	62.0					4																	155665867		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665867C>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.389C>T	4.37:g.155665867C>T	ENSP00000337224:p.Ser130Phe					LRAT_ENST00000507827.1_Missense_Mutation_p.S130F	p.S130F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			2	642	+	all_hematologic(180;0.215)	Renal(120;0.0458)	130					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.389C>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998368	0.54147	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.47528	0.84;0.84	5.49	1.67	0.24075	NC (1);	1.111380	0.06411	N	0.720638	T	0.39572	0.1083	L	0.45581	1.43	0.09310	N	1	P	0.48016	0.904	B	0.43251	0.413	T	0.32981	-0.9886	10	0.56958	D	0.05	-8.9903	0.6569	0.00836	0.2655:0.3483:0.1297:0.2565	.	130	O95237	LRAT_HUMAN	F	130	ENSP00000426761:S130F;ENSP00000337224:S130F	ENSP00000337224:S130F	S	+	2	0	LRAT	155885317	0.000000	0.05858	0.805000	0.32314	0.971000	0.66376	0.530000	0.23036	0.279000	0.22186	0.644000	0.83932	TCC		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		5	21	0	0	0	1	0	5	21				
DDX19B	11269	broad.mit.edu	37	16	70363937	70363937	+	Missense_Mutation	SNP	C	C	T	rs530175934		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70363937C>T	ENST00000288071.6	+	9	1234	c.989C>T	c.(988-990)gCc>gTc	p.A330V	DDX19B_ENST00000563206.1_Missense_Mutation_p.A335V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.A221V|DDX19B_ENST00000355992.3_Missense_Mutation_p.A299V|DDX19B_ENST00000563392.1_Missense_Mutation_p.A221V|DDX19B_ENST00000451014.3_Missense_Mutation_p.A304V|DDX19B_ENST00000393657.2_Missense_Mutation_p.A221V|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	330	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CTCTACGGGGCCATCACCATT	0.577																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(988-990)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							156.0	125.0	136.0					16																	70363937		2198	4298	6496	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70363937C>T	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.989C>T	16.37:g.70363937C>T	ENSP00000288071:p.Ala330Val					DDX19B_ENST00000563392.1_Missense_Mutation_p.A221V|DDX19B_ENST00000393657.2_Missense_Mutation_p.A221V|DDX19B_ENST00000451014.3_Missense_Mutation_p.A304V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Missense_Mutation_p.A335V|DDX19B_ENST00000568625.1_Missense_Mutation_p.A221V|DDX19B_ENST00000355992.3_Missense_Mutation_p.A299V	p.A330V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			9	1234	+		Ovarian(137;0.0694)	330			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.989C>T	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590501	0.46214	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.19	5.19	0.71726	Helicase, C-terminal (1);	0.051640	0.85682	D	0.000000	T	0.04048	0.0113	N	0.10972	0.075	0.80722	D	1	B;P;B	0.35272	0.0;0.493;0.001	B;B;B	0.36845	0.002;0.234;0.0	T	0.58758	-0.7580	10	0.36615	T	0.2	-8.1379	16.2471	0.82449	0.0:1.0:0.0:0.0	.	304;299;330	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	V	304;299;221;330	ENSP00000392639:A304V;ENSP00000348271:A299V;ENSP00000377267:A221V;ENSP00000288071:A330V	ENSP00000288071:A330V	A	+	2	0	DDX19B	68921438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.715000	0.92844	0.609000	0.83330	GCC		0.577	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		40	48	0	0	0	1	0	40	48				
DNAJB13	374407	broad.mit.edu	37	11	73662152	73662152	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73662152G>A	ENST00000339764.1	+	1	789	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	13	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GGGATCACTCGCAATTCAGAG	0.582																																						ENST00000339764.1																			0				large_intestine(3)|lung(2)	5						c.(37-39)cGc>cAc		DnaJ (Hsp40) homolog, subfamily B, member 13							91.0	71.0	78.0					11																	73662152		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73662152G>A	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.38G>A	11.37:g.73662152G>A	ENSP00000344431:p.Arg13His						p.R13H	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN			1	789	+	Breast(11;7.42e-05)		13			J.		B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.38G>A	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316374	0.23908	.	.	ENSG00000187726	ENST00000339764	T	0.33654	1.4	5.38	2.53	0.30540	Heat shock protein DnaJ, N-terminal (5);	0.202744	0.46145	N	0.000319	T	0.21962	0.0529	L	0.37697	1.125	0.23616	N	0.997281	P	0.41102	0.738	B	0.34452	0.183	T	0.14062	-1.0486	10	0.56958	D	0.05	.	5.4147	0.16368	0.2416:0.1445:0.6139:0.0	.	13	P59910	DJB13_HUMAN	H	13	ENSP00000344431:R13H	ENSP00000344431:R13H	R	+	2	0	DNAJB13	73339800	0.075000	0.21258	0.768000	0.31515	0.077000	0.17291	1.677000	0.37576	0.372000	0.24591	-1.018000	0.02450	CGC		0.582	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		5	14	0	0	0	1	0	5	14				
THUMPD3	25917	broad.mit.edu	37	3	9413002	9413002	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9413002G>A	ENST00000345094.3	+	4	923	c.589G>A	c.(589-591)Gta>Ata	p.V197I	THUMPD3_ENST00000452837.2_Missense_Mutation_p.V197I|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.V197I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	197	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CAAAGAGGATGTATCAACATT	0.353																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(589-591)Gta>Ata		THUMP domain containing 3							75.0	78.0	77.0					3																	9413002		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9413002G>A	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.589G>A	3.37:g.9413002G>A	ENSP00000339532:p.Val197Ile					THUMPD3_ENST00000515662.2_Missense_Mutation_p.V197I|THUMPD3_ENST00000452837.2_Missense_Mutation_p.V197I|SETD5-AS1_ENST00000468186.1_RNA	p.V197I	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	923	+	Medulloblastoma(99;0.227)		197			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.589G>A	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.646|2.646|2.646	-0.282969|-0.282969|-0.282969	0.05642|0.05642|0.05642	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000441127|ENST00000452837;ENST00000345094;ENST00000515662	.|.|T;T;T	.|.|0.41758	.|.|0.99;0.99;0.99	5.94|5.94|5.94	-5.41|-5.41|-5.41	0.02648|0.02648|0.02648	.|.|THUMP (2);	.|.|1.084970	.|.|0.06805	.|.|N	.|.|0.789314	T|T|T	0.20129|0.20129|0.20129	0.0484|0.0484|0.0484	N|N|N	0.02011|0.02011|0.02011	-0.69|-0.69|-0.69	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|B	.|.|0.09022	.|.|0.002	.|.|B	.|.|0.06405	.|.|0.002	T|T|T	0.19128|0.19128|0.19128	-1.0315|-1.0315|-1.0315	5|5|10	.|.|0.33141	.|.|T	.|.|0.24	-19.9597|-19.9597|-19.9597	18.5175|18.5175|18.5175	0.90941|0.90941|0.90941	0.3044:0.0:0.6956:0.0|0.3044:0.0:0.6956:0.0|0.3044:0.0:0.6956:0.0	.|.|.	.|.|197	.|.|Q9BV44	.|.|THUM3_HUMAN	Y|I|I	29|53|197	.|.|ENSP00000395893:V197I;ENSP00000339532:V197I;ENSP00000424064:V197I	.|.|ENSP00000339532:V197I	C|M|V	+|+|+	2|3|1	0|0|0	THUMPD3|THUMPD3|THUMPD3	9388002|9388002|9388002	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.044000|0.044000|0.044000	0.14063|0.14063|0.14063	-0.524000|-0.524000|-0.524000	0.06222|0.06222|0.06222	-1.337000|-1.337000|-1.337000	0.02236|0.02236|0.02236	-0.367000|-0.367000|-0.367000	0.07326|0.07326|0.07326	TGT|ATG|GTA		0.353	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		23	34	0	0	0	1	0	23	34				
PHRF1	57661	broad.mit.edu	37	11	597506	597506	+	Missense_Mutation	SNP	G	G	A	rs201538268		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:597506G>A	ENST00000264555.5	+	8	958	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	PHRF1_ENST00000413872.2_Missense_Mutation_p.R276Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R277Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.R273Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	277	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCAGGACACGGCAGAGTGAG	0.652																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(829-831)cGg>cAg		PHD and ring finger domains 1							47.0	56.0	53.0					11																	597506		2084	4203	6287	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:597506G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.830G>A	11.37:g.597506G>A	ENSP00000264555:p.Arg277Gln					PHRF1_ENST00000413872.2_Missense_Mutation_p.R276Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.R273Q|PHRF1_ENST00000416188.2_Missense_Mutation_p.R277Q	p.R277Q	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			8	958	+			277			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.830G>A		.	.	.	.	.	.	.	.	.	.	G	17.81	3.481500	0.63849	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.23	4.23	0.50019	.	0.000000	0.37261	N	0.002180	T	0.51907	0.1702	L	0.47190	1.495	0.37728	D	0.925168	D;D;D;D	0.67145	0.992;0.996;0.996;0.992	P;P;P;P	0.57371	0.664;0.819;0.819;0.664	T	0.56195	-0.8019	10	0.37606	T	0.19	-24.1653	16.876	0.86052	0.0:0.0:1.0:0.0	.	273;276;277;277	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Q	277;276;277;273	ENSP00000264555:R277Q;ENSP00000388589:R276Q;ENSP00000410626:R277Q;ENSP00000431870:R273Q	ENSP00000264555:R277Q	R	+	2	0	PHRF1	587506	1.000000	0.71417	0.883000	0.34634	0.375000	0.29983	6.235000	0.72332	2.217000	0.71921	0.556000	0.70494	CGG		0.652	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	9	0	0	0	1	0	7	9				
STON2	85439	broad.mit.edu	37	14	81864721	81864721	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:81864721C>T	ENST00000267540.2	-	1	206	c.6G>A	c.(4-6)acG>acA	p.T2T	STON2_ENST00000555447.1_Silent_p.T2T	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	2					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTCCAAAGTCGTCATGCTAA	0.537																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(4-6)acG>acA		stonin 2							130.0	107.0	115.0					14																	81864721		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81864721C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.6G>A	14.37:g.81864721C>T						STON2_ENST00000267540.2_Silent_p.T2T	p.T2T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	3	418	-			2					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.6G>A	CCDS9875.1																																																																																				0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		7	11	0	0	0	1	0	7	11				
GTF2IRD1	9569	broad.mit.edu	37	7	73953041	73953041	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73953041G>A	ENST00000265755.3	+	13	1872	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	GTF2IRD1_ENST00000476977.1_Silent_p.P493P|GTF2IRD1_ENST00000424337.2_Silent_p.P493P|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.P525P	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	493					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTGAGGCCGATCAAAATTG	0.582																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1477-1479)ccG>ccA		GTF2I repeat domain containing 1							71.0	71.0	71.0					7																	73953041		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73953041G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1479G>A	7.37:g.73953041G>A						GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.P493P|GTF2IRD1_ENST00000455841.2_Silent_p.P525P|GTF2IRD1_ENST00000265755.3_Silent_p.P493P	p.P493P			Q9UHL9	GT2D1_HUMAN			13	3170	+			493					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.1479G>A	CCDS5571.1																																																																																				0.582	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		20	31	0	0	0	1	0	20	31				
FAAH2	158584	broad.mit.edu	37	X	57515244	57515244	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:57515244C>T	ENST00000374900.4	+	11	1598	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	493						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGACTGAATGCCAAAGGACTC	0.502										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(1477-1479)gCc>gTc		fatty acid amide hydrolase 2							81.0	68.0	72.0					X																	57515244		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57515244C>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1478C>T	X.37:g.57515244C>T	ENSP00000364035:p.Ala493Val	HNSCC(52;0.14)				FAAH2_ENST00000491179.1_3'UTR	p.A493V	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			11	1598	+			493					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.1478C>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	c	4.960	0.178388	0.09443	.	.	ENSG00000165591	ENST00000374900	T	0.56444	0.46	2.46	-1.28	0.09318	Amidase signature domain (2);	1.185740	0.06231	N	0.688694	T	0.43656	0.1257	L	0.43152	1.355	0.19945	N	0.999949	B	0.28760	0.221	B	0.36030	0.216	T	0.35919	-0.9769	10	0.27785	T	0.31	.	3.6212	0.08096	0.1925:0.5095:0.0:0.298	.	493	Q6GMR7	FAAH2_HUMAN	V	493	ENSP00000364035:A493V	ENSP00000364035:A493V	A	+	2	0	FAAH2	57531969	0.754000	0.28360	0.959000	0.39883	0.280000	0.26924	0.334000	0.19787	-0.550000	0.06183	-1.232000	0.01568	GCC		0.502	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		16	18	0	0	0	1	0	16	18				
ZIC4	84107	broad.mit.edu	37	3	147114235	147114235	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:147114235C>T	ENST00000383075.3	-	3	604	c.92G>A	c.(91-93)gGc>gAc	p.G31D	ZIC4_ENST00000473123.1_Missense_Mutation_p.G31D|ZIC4_ENST00000484399.1_Missense_Mutation_p.G31D|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G69D|ZIC4_ENST00000525172.2_Missense_Mutation_p.G81D	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	31						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G31D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGCTGGGGGCCATGGTGTCC	0.692																																						ENST00000383075.3																			1	Substitution - Missense(1)	p.G31D(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(91-93)gGc>gAc		Zic family member 4							23.0	29.0	27.0					3																	147114235		2023	4168	6191	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114235C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.92G>A	3.37:g.147114235C>T	ENSP00000372553:p.Gly31Asp					ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G69D|ZIC4_ENST00000484399.1_Missense_Mutation_p.G31D|ZIC4_ENST00000525172.2_Missense_Mutation_p.G81D|ZIC4_ENST00000473123.1_Missense_Mutation_p.G31D	p.G31D	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	604	-			31					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.92G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662110	0.47572	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T	0.12465	2.84;2.74;2.73;2.84;2.84;2.68	5.16	3.36	0.38483	.	0.287586	0.24597	N	0.037170	T	0.09774	0.0240	N	0.20986	0.625	0.80722	D	1	B;P	0.44195	0.006;0.828	B;B	0.40901	0.013;0.343	T	0.11421	-1.0588	10	0.56958	D	0.05	.	9.4104	0.38489	0.0:0.7734:0.0:0.2266	.	81;31	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	D	31;69;81;31;31;31;31;31	ENSP00000372553:G31D;ENSP00000397695:G69D;ENSP00000435509:G81D;ENSP00000417855:G31D;ENSP00000420775:G31D;ENSP00000420627:G31D	ENSP00000372553:G31D	G	-	2	0	ZIC4	148596925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.779000	0.55379	1.170000	0.42753	0.561000	0.74099	GGC		0.692	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			14	36	0	0	0	1	0	14	36				
CORO6	84940	broad.mit.edu	37	17	27945843	27945843	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27945843G>A	ENST00000445145.2	-	4	599	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000345068.5_Missense_Mutation_p.R200C|CORO6_ENST00000580212.1_Missense_Mutation_p.R200C|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.R200C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R200C			Q6QEF8	CORO6_HUMAN	coronin 6	200					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TCAATGATGCGCAAGGTCTTG	0.597																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.(598-600)Cgc>Tgc		coronin 6							70.0	72.0	72.0					17																	27945843		2126	4228	6354	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945843G>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.598C>T	17.37:g.27945843G>A	ENSP00000393624:p.Arg200Cys					RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Missense_Mutation_p.R200C|CORO6_ENST00000584969.1_Missense_Mutation_p.R200C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000580212.1_Missense_Mutation_p.R200C|CORO6_ENST00000445145.2_Missense_Mutation_p.R200C	p.R200C			Q6QEF8	CORO6_HUMAN			5	811	-			200					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.598C>T		.	.	.	.	.	.	.	.	.	.	G	15.20	2.761699	0.49468	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.68025	-0.3;-0.3	5.67	4.65	0.58169	.	0.222189	0.43919	D	0.000519	D	0.85775	0.5775	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88873	0.3334	10	0.87932	D	0	-5.6435	15.2358	0.73430	0.0:0.0:0.7694:0.2306	.	200	Q6QEF8-5	.	C	271;200;200	ENSP00000373419:R200C;ENSP00000393624:R200C	ENSP00000344562:R271C	R	-	1	0	CORO6	24969969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.178000	0.71968	2.837000	0.97791	0.655000	0.94253	CGC		0.597	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		7	10	0	0	0	1	0	7	10				
ATAD3C	219293	broad.mit.edu	37	1	1387776	1387776	+	Missense_Mutation	SNP	C	C	T	rs144852834	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1387776C>T	ENST00000378785.2	+	3	1179	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	62							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		GGAAGGATTCCGTGCCTTTGT	0.577													N|||	30	0.00599042	0.0227	0.0	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.0					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(184-186)Cgt>Tgt		ATPase family, AAA domain containing 3C		C	CYS/ARG	26,1358		0,26,666	135.0	117.0	123.0		184	2.5	1.0	1	dbSNP_134	123	0,3182		0,0,1591	no	missense	ATAD3C	NM_001039211.2	180	0,26,2257	TT,TC,CC		0.0,1.8786,0.5694	probably-damaging	62/412	1387776	26,4540	692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1387776C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.184C>T	1.37:g.1387776C>T	ENSP00000368062:p.Arg62Cys						p.R62C	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_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)	3	1179	+	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)	62					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.184C>T	CCDS44039.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	.	2.682	-0.275143	0.05679	0.018786	0.0	ENSG00000215915	ENST00000378785	D	0.94687	-3.49	2.48	2.48	0.30137	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.056521	0.64402	N	0.000002	T	0.81123	0.4757	L	0.48877	1.53	0.58432	D	0.999996	B	0.28419	0.211	B	0.27608	0.081	D	0.85319	0.1083	10	0.87932	D	0	.	11.9955	0.53201	0.0:1.0:0.0:0.0	.	62	Q5T2N8	ATD3C_HUMAN	C	62	ENSP00000368062:R62C	ENSP00000368062:R62C	R	+	1	0	ATAD3C	1377639	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	4.423000	0.59861	1.224000	0.43551	0.194000	0.17425	CGT		0.577	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		25	117	0	0	0	1	0	25	117				
CA13	377677	broad.mit.edu	37	8	86178874	86178874	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:86178874G>A	ENST00000321764.3	+	4	694	c.392G>A	c.(391-393)aGc>aAc	p.S131N	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	131					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AAATACCCCAGCTTTGTTGAG	0.398																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(391-393)aGc>aAc		carbonic anhydrase XIII							137.0	124.0	128.0					8																	86178874		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86178874G>A	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.392G>A	8.37:g.86178874G>A	ENSP00000318912:p.Ser131Asn					CA13_ENST00000517298.1_3'UTR	p.S131N	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			4	694	+			131						Missense_Mutation	SNP	ENST00000321764.3	37	c.392G>A	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409070	0.42715	.	.	ENSG00000185015	ENST00000321764	T	0.63417	-0.04	5.49	4.61	0.57282	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.035955	0.85682	D	0.000000	T	0.59432	0.2193	L	0.45744	1.44	0.50813	D	0.999898	B	0.21905	0.062	B	0.33295	0.161	T	0.55866	-0.8073	10	0.31617	T	0.26	-13.9566	14.6266	0.68626	0.0:0.2769:0.7231:0.0	.	131	Q8N1Q1	CAH13_HUMAN	N	131	ENSP00000318912:S131N	ENSP00000318912:S131N	S	+	2	0	CA13	86366126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.467000	0.53078	1.442000	0.47568	0.655000	0.94253	AGC		0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		11	39	0	0	0	1	0	11	39				
DDX24	57062	broad.mit.edu	37	14	94528809	94528809	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:94528809C>T	ENST00000330836.5	-	3	1008	c.877G>A	c.(877-879)Gct>Act	p.A293T	DDX24_ENST00000544005.1_Missense_Mutation_p.A43T|DDX24_ENST00000555054.1_Missense_Mutation_p.A250T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAGACTCAGCTTCAGCCTTG	0.552																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(877-879)Gct>Act		DEAD (Asp-Glu-Ala-Asp) box helicase 24							138.0	113.0	121.0					14																	94528809		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528809C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.877G>A	14.37:g.94528809C>T	ENSP00000328690:p.Ala293Thr					DDX24_ENST00000544005.1_Missense_Mutation_p.A43T|DDX24_ENST00000555054.1_Missense_Mutation_p.A250T	p.A293T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1008	-		all_cancers(154;0.12)	293			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.877G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294375	0.23564	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03441	4.0;3.93;4.0	4.96	-7.55	0.01327	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.948760	0.08817	N	0.889311	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49560	-0.8927	10	0.07990	T	0.79	-32.2688	8.6238	0.33877	0.0:0.4715:0.2222:0.3063	.	293	Q9GZR7	DDX24_HUMAN	T	293;43;238;250;250	ENSP00000328690:A293T;ENSP00000440623:A43T;ENSP00000452145:A250T	ENSP00000328690:A293T	A	-	1	0	DDX24	93598562	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.244000	0.08903	-1.218000	0.02601	-0.290000	0.09829	GCT		0.552	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		22	37	0	0	0	1	0	22	37				
P4HB	5034	broad.mit.edu	37	17	79803786	79803786	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79803786C>T	ENST00000331483.4	-	8	1360	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	P4HB_ENST00000439918.2_Missense_Mutation_p.V336M|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	380	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCAAAAGCCACGTCTTCAAAG	0.572																																					Colon(49;444 983 1296 7887 42561)	ENST00000331483.4																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(1138-1140)Gtg>Atg		prolyl 4-hydroxylase, beta polypeptide							68.0	64.0	66.0					17																	79803786		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79803786C>T	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1138G>A	17.37:g.79803786C>T	ENSP00000327801:p.Val380Met					P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.V336M	p.V380M	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		8	1360	-	all_neural(118;0.0878)|Ovarian(332;0.12)		380			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1138G>A	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325659|3.325659	0.60743|0.60743	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000415593;ENST00000439918|ENST00000331483;ENST00000537205;ENST00000436463	.|T	.|0.03468	.|3.92	5.89|5.89	4.92|4.92	0.64577|0.64577	.|Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	.|0.057391	.|0.64402	.|D	.|0.000002	T|T	0.13628|0.13628	0.0330|0.0330	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.00525|0.00525	-1.1689|-1.1689	5|10	.|0.87932	.|D	.|0	.|.	14.8828|14.8828	0.70545|0.70545	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	.|380	.|P07237	.|PDIA1_HUMAN	H|M	145;166|380;323;364	.|ENSP00000327801:V380M	.|ENSP00000327801:V380M	R|V	-|-	2|1	0|0	P4HB|P4HB	77397075|77397075	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.489000|0.489000	0.33432|0.33432	3.116000|3.116000	0.50399|0.50399	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.572	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		12	14	0	0	0	1	0	12	14				
CNOT3	4849	broad.mit.edu	37	19	54647752	54647752	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54647752G>A	ENST00000406403.1	+	5	1872	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAATGGAACGGTTCAAAGTT	0.557																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(268-270)cGg>cAg		CCR4-NOT transcription complex, subunit 3							84.0	84.0	84.0					19																	54647752		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647752G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.269G>A	19.37:g.54647752G>A	ENSP00000383954:p.Arg90Gln					CNOT3_ENST00000221232.5_Missense_Mutation_p.R90Q|CNOT3_ENST00000358389.3_5'UTR	p.R90Q			O75175	CNOT3_HUMAN			5	1872	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		90					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.269G>A	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350687|4.350687	0.82132|0.82132	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48836	.|0.8;0.8	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56529|0.56529	0.1991|0.1991	N|N	0.25201|0.25201	0.72|0.72	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.87578	.|0.998;0.992;0.998	T|T	0.56378|0.56378	-0.7989|-0.7989	5|10	.|0.41790	.|T	.|0.15	-32.5338|-32.5338	18.0727|18.0727	0.89415|0.89415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|90;90;14	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	S|Q	11|90	.|ENSP00000221232:R90Q;ENSP00000383954:R90Q	.|ENSP00000221232:R90Q	G|R	+|+	1|2	0|0	CNOT3|CNOT3	59339564|59339564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.149000|9.149000	0.94659|0.94659	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		33	46	0	0	0	1	0	33	46				
TBX20	57057	broad.mit.edu	37	7	35288352	35288352	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:35288352C>A	ENST00000408931.3	-	3	1008	c.482G>T	c.(481-483)cGc>cTc	p.R161L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	161					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTAGGCGTAGCGGTACCTCTT	0.572																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(481-483)cGc>cTc		T-box 20							94.0	87.0	89.0					7																	35288352		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35288352C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.482G>T	7.37:g.35288352C>A	ENSP00000386170:p.Arg161Leu						p.R161L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			3	1008	-			161					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.482G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675456	0.96764	.	.	ENSG00000164532	ENST00000408931	D	0.90069	-2.61	5.87	5.87	0.94306	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96562	0.8878	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96807	0.9594	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	161	Q9UMR3	TBX20_HUMAN	L	161	ENSP00000386170:R161L	ENSP00000386170:R161L	R	-	2	0	TBX20	35254877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CGC		0.572	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		16	31	1	0	4.14922e-12	1	4.48033e-12	16	31				
ADAMTSL1	92949	broad.mit.edu	37	9	18887911	18887911	+	Silent	SNP	G	G	A	rs566582553		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18887911G>A	ENST00000380548.4	+	24	4671	c.4332G>A	c.(4330-4332)acG>acA	p.T1444T	ADAMTSL1_ENST00000380545.5_Silent_p.T145T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1444	Ig-like C2-type 4.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGGACTGACGCATCACATCT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20950	0.0		0.0	False		,,,				2504	0.0					ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4330-4332)acG>acA		ADAMTS-like 1							88.0	85.0	86.0					9																	18887911		2037	4181	6218	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18887911G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4332G>A	9.37:g.18887911G>A						ADAMTSL1_ENST00000380545.5_Silent_p.T145T	p.T1444T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	24	4671	+			1444			Ig-like C2-type 4.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.4332G>A	CCDS47954.1																																																																																				0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			14	20	0	0	0	1	0	14	20				
LRP12	29967	broad.mit.edu	37	8	105509341	105509341	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:105509341C>T	ENST00000276654.5	-	5	1547	c.1439G>A	c.(1438-1440)aGc>aAc	p.S480N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.S461N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	480	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTCATCGCTGCCATCACC	0.448																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1438-1440)aGc>aAc		low density lipoprotein receptor-related protein 12							145.0	122.0	130.0					8																	105509341		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509341C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1439G>A	8.37:g.105509341C>T	ENSP00000276654:p.Ser480Asn					LRP12_ENST00000424843.2_Missense_Mutation_p.S461N	p.S480N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1547	-			480			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1439G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027335	0.75390	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.97791	-4.54;-4.54;-4.54	5.79	5.79	0.91817	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.98446	4.235	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.76575	0.979;0.988	D	0.98417	1.0575	10	0.87932	D	0	-27.3808	20.0498	0.97621	0.0:1.0:0.0:0.0	.	461;480	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	461;480;69	ENSP00000399148:S461N;ENSP00000276654:S480N;ENSP00000429305:S69N	ENSP00000276654:S480N	S	-	2	0	LRP12	105578517	1.000000	0.71417	0.964000	0.40570	0.837000	0.47467	4.884000	0.63135	2.753000	0.94483	0.557000	0.71058	AGC		0.448	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		27	48	0	0	0	1	0	27	48				
ABLIM1	3983	broad.mit.edu	37	10	116307451	116307451	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:116307451C>T	ENST00000277895.5	-	5	855	c.758G>A	c.(757-759)tGc>tAc	p.C253Y	ABLIM1_ENST00000369252.4_Missense_Mutation_p.C193Y|ABLIM1_ENST00000533213.2_Missense_Mutation_p.C193Y	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	253	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCAGGACTTGCATTTAAAGCA	0.587																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(577-579)tGc>tAc		actin binding LIM protein 1							68.0	61.0	63.0					10																	116307451		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116307451C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.758G>A	10.37:g.116307451C>T	ENSP00000277895:p.Cys253Tyr					ABLIM1_ENST00000533213.2_Missense_Mutation_p.C193Y|ABLIM1_ENST00000277895.5_Missense_Mutation_p.C253Y	p.C193Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	5	879	-		Colorectal(252;0.0373)|Breast(234;0.231)	253			LIM zinc-binding 2.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.578G>A	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.126159|5.126159	0.94429|0.94429	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.|D;D;D	.|0.99898	.|-7.61;-7.61;-7.61	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99939|0.99939	0.9973|0.9973	H|H	0.99090|0.99090	4.425|4.425	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;1.0;0.999;1.0	D|D	0.96006|0.96006	0.8997|0.8997	5|10	.|0.87932	.|D	.|0	.|.	19.4536|19.4536	0.94878|0.94878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;193;193;253;193;177	.|B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.|.;.;.;ABLM1_HUMAN;.;.	T|Y	162|253;193;193;193;253;177;177;177;253	.|ENSP00000358256:C193Y;ENSP00000433629:C193Y;ENSP00000277895:C253Y	.|ENSP00000277895:C253Y	A|C	-|-	1|2	0|0	ABLIM1|ABLIM1	116297441|116297441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.640000|7.640000	0.83355|0.83355	2.621000|2.621000	0.88768|0.88768	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.587	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			16	20	0	0	0	1	0	16	20				
PIKFYVE	200576	broad.mit.edu	37	2	209217388	209217388	+	Missense_Mutation	SNP	C	C	T	rs371648963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209217388C>T	ENST00000264380.4	+	39	5884	c.5726C>T	c.(5725-5727)gCg>gTg	p.A1909V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1909	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCCCACGGCGTTGGCCAAA	0.328																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(5725-5727)gCg>gTg		phosphoinositide kinase, FYVE finger containing		C	VAL/ALA	0,4404		0,0,2202	62.0	65.0	64.0		5726	5.5	0.3	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIKFYVE	NM_015040.3	64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1909/2099	209217388	1,13003	2202	4300	6502	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209217388C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5726C>T	2.37:g.209217388C>T	ENSP00000264380:p.Ala1909Val						p.A1909V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			39	5884	+			1909			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5726C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983929	0.35036	0.0	1.16E-4	ENSG00000115020	ENST00000264380	T	0.27890	1.64	5.46	5.46	0.80206	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051413	0.85682	D	0.000000	T	0.23649	0.0572	N	0.12611	0.24	0.80722	D	1	D	0.58268	0.982	P	0.48677	0.586	T	0.02625	-1.1132	10	0.05721	T	0.95	-8.6298	19.2883	0.94087	0.0:1.0:0.0:0.0	.	1909	Q9Y2I7	FYV1_HUMAN	V	1909	ENSP00000264380:A1909V	ENSP00000264380:A1909V	A	+	2	0	PIKFYVE	208925633	1.000000	0.71417	0.257000	0.24404	0.311000	0.27955	7.666000	0.83877	2.543000	0.85770	0.655000	0.94253	GCG		0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		19	39	0	0	0	1	0	19	39				
ZNF43	7594	broad.mit.edu	37	19	21990620	21990620	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21990620C>T	ENST00000354959.4	-	4	2388	c.2219G>A	c.(2218-2220)gGc>gAc	p.G740D	ZNF43_ENST00000595461.1_Missense_Mutation_p.G734D|ZNF43_ENST00000598381.1_Missense_Mutation_p.G734D|ZNF43_ENST00000594012.1_Missense_Mutation_p.G734D	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	740					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAATGCTTTGCCACATTCTTC	0.348																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(2200-2202)gGc>gAc		zinc finger protein 43							68.0	73.0	71.0					19																	21990620		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990620C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2219G>A	19.37:g.21990620C>T	ENSP00000347045:p.Gly740Asp					ZNF43_ENST00000598381.1_Missense_Mutation_p.G734D|ZNF43_ENST00000595461.1_Missense_Mutation_p.G734D|ZNF43_ENST00000354959.4_Missense_Mutation_p.G740D	p.G734D	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2715	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	740					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.2201G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262147	0.23051	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58358	0.34	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56746	0.2006	L	0.31157	0.91	0.34717	D	0.728352	D	0.89917	1.0	D	0.71184	0.972	T	0.66077	-0.6013	9	0.59425	D	0.04	.	10.4707	0.44635	0.0:1.0:0.0:0.0	.	740	P17038	ZNF43_HUMAN	D	739;740	ENSP00000347045:G740D	ENSP00000347045:G740D	G	-	2	0	ZNF43	21782460	0.081000	0.21417	0.180000	0.23079	0.132000	0.20833	0.636000	0.24644	0.976000	0.38417	0.305000	0.20034	GGC		0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		22	41	0	0	0	1	0	22	41				
PPARGC1B	133522	broad.mit.edu	37	5	149216274	149216274	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149216274C>T	ENST00000309241.5	+	8	2288	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	PPARGC1B_ENST00000360453.4_Silent_p.S713S|PPARGC1B_ENST00000403750.1_Silent_p.S688S|PPARGC1B_ENST00000394320.3_Silent_p.S752S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	752					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGGACAGCACGCTGCTGA	0.647																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2254-2256)agC>agT		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							82.0	82.0	82.0					5																	149216274		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216274C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2256C>T	5.37:g.149216274C>T						PPARGC1B_ENST00000403750.1_Silent_p.S688S|PPARGC1B_ENST00000360453.4_Silent_p.S713S|PPARGC1B_ENST00000394320.3_Silent_p.S752S	p.S752S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2288	+			752					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.2256C>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	3.470	-0.108102	0.06924	.	.	ENSG00000155846	ENST00000434684	.	.	.	4.93	-9.17	0.00691	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.71748	-0.4499	4	.	.	.	-7.9899	17.7004	0.88293	0.0858:0.7246:0.0:0.1896	.	.	.	.	Y	439	.	.	H	+	1	0	PPARGC1B	149196467	0.000000	0.05858	0.000000	0.03702	0.704000	0.40688	-1.754000	0.01816	-1.924000	0.01064	-0.379000	0.06801	CAC		0.647	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		27	40	0	0	0	1	0	27	40				
OR10AG1	282770	broad.mit.edu	37	11	55735752	55735752	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55735752C>T	ENST00000312345.2	-	1	238	c.188G>A	c.(187-189)tGt>tAt	p.C63Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTACATAACAGATTTCCAA	0.343																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(187-189)tGt>tAt		olfactory receptor, family 10, subfamily AG, member 1							63.0	70.0	68.0					11																	55735752		2200	4295	6495	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735752C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.188G>A	11.37:g.55735752C>T	ENSP00000311477:p.Cys63Tyr						p.C63Y	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	238	-	Esophageal squamous(21;0.0137)		63					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.188G>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.550996	0.13374	.	.	ENSG00000174970	ENST00000312345	T	0.00463	7.25	5.47	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.00875	0.0029	M	0.91717	3.235	0.09310	N	1	B	0.31125	0.309	B	0.35727	0.209	T	0.15983	-1.0418	10	0.72032	D	0.01	.	9.4264	0.38583	0.1625:0.6807:0.1568:0.0	.	63	Q8NH19	O10AG_HUMAN	Y	63	ENSP00000311477:C63Y	ENSP00000311477:C63Y	C	-	2	0	OR10AG1	55492328	0.000000	0.05858	0.983000	0.44433	0.224000	0.24922	0.731000	0.26058	1.346000	0.45694	-0.871000	0.02989	TGT		0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		4	61	0	0	0	1	0	4	61				
PPFIA3	8541	broad.mit.edu	37	19	49643082	49643082	+	Missense_Mutation	SNP	G	G	A	rs531660941		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49643082G>A	ENST00000334186.4	+	17	2583	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R745Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	745					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGACCCCCACGGGGAAGGTCA	0.642													g|||	1	0.000199681	0.0	0.0014	5008	,	,		15975	0.0		0.0	False		,,,				2504	0.0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2233-2235)cGg>cAg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							29.0	33.0	32.0					19																	49643082		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643082G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2234G>A	19.37:g.49643082G>A	ENSP00000335614:p.Arg745Gln					PPFIA3_ENST00000602351.1_Missense_Mutation_p.R745Q	p.R745Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	17	2583	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	745					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2234G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	g	14.36	2.513354	0.44660	.	.	ENSG00000177380	ENST00000334186	T	0.21361	2.01	4.31	4.31	0.51392	.	0.181585	0.25436	U	0.030698	T	0.24084	0.0583	M	0.61703	1.905	0.80722	D	1	B;B	0.31040	0.087;0.305	B;B	0.29353	0.101;0.082	T	0.05146	-1.0903	10	0.30854	T	0.27	-12.3853	15.9305	0.79656	0.0:0.0:1.0:0.0	.	745;745	O75145-2;O75145	.;LIPA3_HUMAN	Q	745	ENSP00000335614:R745Q	ENSP00000335614:R745Q	R	+	2	0	PPFIA3	54334894	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.968000	0.63728	2.112000	0.64535	0.552000	0.68991	CGG		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		12	14	0	0	0	1	0	12	14				
FOXC1	2296	broad.mit.edu	37	6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCTCTGTACCGCACGTCCGGA	0.512																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1621-1623)cGc>cAc		forkhead box C1							87.0	76.0	80.0					6																	1612302		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612302G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1622G>A	6.37:g.1612302G>A	ENSP00000370256:p.Arg541His						p.R541H	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1622	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	541					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1622G>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293132	0.80914	.	.	ENSG00000054598	ENST00000380874	D	0.83335	-1.71	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000004	T	0.81278	0.4789	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	D	0.84583	0.0662	10	0.87932	D	0	.	15.3353	0.74247	0.0:0.0:1.0:0.0	.	541	Q12948	FOXC1_HUMAN	H	541	ENSP00000370256:R541H	ENSP00000370256:R541H	R	+	2	0	FOXC1	1557301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.107000	0.71517	1.941000	0.56285	0.448000	0.29417	CGC		0.512	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			10	17	0	0	0	1	0	10	17				
CUL7	9820	broad.mit.edu	37	6	43017806	43017806	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43017806G>A	ENST00000265348.3	-	6	1549	c.1464C>T	c.(1462-1464)caC>caT	p.H488H	CUL7_ENST00000535468.1_Silent_p.H572H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	488					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGGTCAGGTGTTCACACT	0.552																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1714-1716)caC>caT		cullin 7							115.0	103.0	107.0					6																	43017806		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017806G>A	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1464C>T	6.37:g.43017806G>A						CUL7_ENST00000265348.3_Silent_p.H488H	p.H572H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	1802	-			488					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.1716C>T	CCDS4881.1																																																																																				0.552	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		10	53	0	0	0	1	0	10	53				
MEGF11	84465	broad.mit.edu	37	15	66206195	66206195	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:66206195C>T	ENST00000409699.2	-	20	2762	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.V789M|MEGF11_ENST00000422354.1_Missense_Mutation_p.V864M|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.V789M|MEGF11_ENST00000395614.1_Missense_Mutation_p.V37M			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	864					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCCAGCAGCACCACAATGAGG	0.602																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2590-2592)Gtg>Atg		multiple EGF-like-domains 11							66.0	61.0	63.0					15																	66206195		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206195C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2590G>A	15.37:g.66206195C>T	ENSP00000386908:p.Val864Met					MEGF11_ENST00000395625.2_Missense_Mutation_p.V789M|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.V789M|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395614.1_Missense_Mutation_p.V37M|MEGF11_ENST00000422354.1_Missense_Mutation_p.V864M	p.V864M			A6BM72	MEG11_HUMAN			20	2762	-			864					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2590G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151032	0.78001	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.87412	-2.25;-2.15;-2.25;-2.15;1.35	4.65	4.65	0.58169	.	0.206543	0.23660	U	0.045827	D	0.85414	0.5691	N	0.22421	0.69	0.80722	D	1	P;D	0.54397	0.954;0.966	P;P	0.56823	0.646;0.807	D	0.85544	0.1217	10	0.51188	T	0.08	.	11.2378	0.48951	0.0:0.9159:0.0:0.0841	.	864;789	A6BM72;A6BM72-2	MEG11_HUMAN;.	M	864;789;864;789;37	ENSP00000386908:V864M;ENSP00000288745:V789M;ENSP00000414475:V864M;ENSP00000378987:V789M;ENSP00000378976:V37M	ENSP00000288745:V789M	V	-	1	0	MEGF11	63993249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.320000	0.43797	2.407000	0.81776	0.555000	0.69702	GTG		0.602	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		14	21	0	0	0	1	0	14	21				
MAP2K6	5608	broad.mit.edu	37	17	67501929	67501929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:67501929C>T	ENST00000590474.1	+	2	312	c.25C>T	c.(25-27)Cga>Tga	p.R9*	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	9	D domain. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AGGCAAGAAGCGAAACCCTGG	0.428																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(25-27)Cga>Tga		mitogen-activated protein kinase kinase 6							137.0	137.0	137.0					17																	67501929		2203	4300	6503	SO:0001587	stop_gained	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67501929C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.25C>T	17.37:g.67501929C>T	ENSP00000468348:p.Arg9*					MAP2K6_ENST00000589647.1_5'UTR	p.R9*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			2	312	+	Breast(10;6.05e-10)		9						Nonsense_Mutation	SNP	ENST00000590474.1	37	c.25C>T	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	38	7.095956	0.98059	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.78	3.77	0.43336	.	0.080023	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0199	12.277	0.54741	0.4455:0.5545:0.0:0.0	.	.	.	.	X	9	.	.	R	+	1	2	MAP2K6	65013524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.757000	0.26433	0.770000	0.33336	0.655000	0.94253	CGA		0.428	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		30	52	0	0	0	1	0	30	52				
PPP1R17	10842	broad.mit.edu	37	7	31736606	31736606	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:31736606G>T	ENST00000342032.3	+	4	891	c.263G>T	c.(262-264)aGa>aTa	p.R88I	PPP1R17_ENST00000409146.3_Missense_Mutation_p.R37I|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	88					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.R88I(1)									TTAATTAAAAGATACGATGTT	0.393																																						ENST00000342032.3																			1	Substitution - Missense(1)	p.R88I(1)	large_intestine(1)								c.(262-264)aGa>aTa		protein phosphatase 1, regulatory subunit 17							95.0	92.0	93.0					7																	31736606		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736606G>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.263G>T	7.37:g.31736606G>T	ENSP00000340125:p.Arg88Ile					PPP1R17_ENST00000409146.3_Missense_Mutation_p.R37I|PPP1R17_ENST00000498609.1_3'UTR	p.R88I	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	891	+			88					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.263G>T	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921051	0.52653	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.37584	1.19;1.42	5.63	4.69	0.59074	.	0.215495	0.41294	D	0.000916	T	0.45013	0.1321	L	0.51422	1.61	0.53688	D	0.999974	P;P	0.41131	0.739;0.571	P;B	0.48400	0.576;0.284	T	0.42732	-0.9434	10	0.72032	D	0.01	-9.9099	16.0143	0.80425	0.0:0.1346:0.8654:0.0	.	37;88	B4DE58;O96001	.;PPR17_HUMAN	I	88;37	ENSP00000340125:R88I;ENSP00000386459:R37I	ENSP00000340125:R88I	R	+	2	0	C7orf16	31703131	1.000000	0.71417	0.977000	0.42913	0.492000	0.33523	3.872000	0.56085	2.802000	0.96397	0.563000	0.77884	AGA		0.393	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		27	40	1	0	2.81731e-10	1	3.0079e-10	27	40				
MCF2L	23263	broad.mit.edu	37	13	113741739	113741739	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113741739C>A	ENST00000375608.3	+	23	2712	c.2654C>A	c.(2653-2655)gCt>gAt	p.A885D	MCF2L_ENST00000421756.1_Missense_Mutation_p.A859D|MCF2L_ENST00000434480.2_Missense_Mutation_p.A861D|MCF2L_ENST00000535094.2_Missense_Mutation_p.A855D|MCF2L_ENST00000375597.4_Missense_Mutation_p.A853D|MCF2L_ENST00000442652.2_Missense_Mutation_p.A885D|MCF2L_ENST00000375601.3_Missense_Mutation_p.A859D|MCF2L_ENST00000423482.2_Missense_Mutation_p.A853D|MCF2L_ENST00000375604.2_Missense_Mutation_p.A912D|MCF2L_ENST00000397030.1_Missense_Mutation_p.A888D			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	885	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TATGAGAAAGCTCCCTCCTAC	0.592																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2662-2664)gCt>gAt		MCF.2 cell line derived transforming sequence-like							53.0	44.0	47.0					13																	113741739		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113741739C>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2654C>A	13.37:g.113741739C>A	ENSP00000364758:p.Ala885Asp					MCF2L_ENST00000442652.2_Missense_Mutation_p.A885D|MCF2L_ENST00000421756.1_Missense_Mutation_p.A859D|MCF2L_ENST00000375597.4_Missense_Mutation_p.A853D|MCF2L_ENST00000375608.3_Missense_Mutation_p.A885D|MCF2L_ENST00000535094.2_Missense_Mutation_p.A855D|MCF2L_ENST00000434480.2_Missense_Mutation_p.A861D|MCF2L_ENST00000375604.2_Missense_Mutation_p.A912D|MCF2L_ENST00000375601.3_Missense_Mutation_p.A859D|MCF2L_ENST00000423482.2_Missense_Mutation_p.A853D	p.A888D			O15068	MCF2L_HUMAN			22	2700	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	885			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2663C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.32|16.32|16.32	3.091180|3.091180|3.091180	0.55968|0.55968|0.55968	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963|ENST00000397017;ENST00000453297	T;T;T;T;T;T;T;T;T;T|.|.	0.75367|.|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;-0.93|.|.	4.57|4.57|4.57	4.57|4.57|4.57	0.56435|0.56435|0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.72301|0.72301|0.72301	0.3443|0.3443|0.3443	L|L|L	0.61218|0.61218|0.61218	1.895|1.895|1.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	0.993;0.993;0.993;1.0;0.995|.|.	P;P;P;D;P|.|.	0.87578|.|.	0.752;0.752;0.811;0.998;0.84|.|.	T|T|T	0.71998|0.71998|0.71998	-0.4423|-0.4423|-0.4423	10|5|5	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	17.729|17.729|17.729	0.88372|0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	853;855;912;853;885|.|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.|.	.;.;.;.;MCF2L_HUMAN|.|.	D|I|R	885;885;912;888;855;859;859;861;853;853;696|85;26|515;9	ENSP00000364758:A885D;ENSP00000401422:A885D;ENSP00000364754:A912D;ENSP00000380225:A888D;ENSP00000440374:A855D;ENSP00000397285:A859D;ENSP00000364751:A859D;ENSP00000407722:A861D;ENSP00000405639:A853D;ENSP00000364747:A853D|.|.	ENSP00000364747:A853D|.|.	A|L|S	+|+|+	2|1|3	0|0|2	MCF2L|MCF2L|MCF2L	112789740|112789740|112789740	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.862000|0.862000|0.862000	0.33874|0.33874|0.33874	0.013000|0.013000|0.013000	0.08279|0.08279|0.08279	7.569000|7.569000|7.569000	0.82380|0.82380|0.82380	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|CTC|AGC		0.592	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			7	8	1	0	0.00198382	1	0.0020125	7	8				
RELT	84957	broad.mit.edu	37	11	73105729	73105729	+	Silent	SNP	C	C	T	rs576532007		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73105729C>T	ENST00000064780.2	+	9	1257	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RELT_ENST00000393580.2_Silent_p.A332A|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	332			A -> V (in dbSNP:rs12362779). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTCCCAAGGCCGGGGCCAAGG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.001		0.0	False		,,,				2504	0.0					ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(994-996)gcC>gcT		RELT tumor necrosis factor receptor							35.0	38.0	37.0					11																	73105729		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105729C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.996C>T	11.37:g.73105729C>T						RELT_ENST00000393580.2_Silent_p.A332A	p.A332A	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1257	+			332		A -> V (in dbSNP:rs12362779).			Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.996C>T	CCDS8222.1																																																																																				0.637	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		7	23	0	0	0	1	0	7	23				
PPP1R1B	84152	broad.mit.edu	37	17	37791876	37791876	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37791876C>A	ENST00000254079.4	+	6	931	c.462C>A	c.(460-462)acC>acA	p.T154T	PPP1R1B_ENST00000394265.1_Silent_p.T118T|PPP1R1B_ENST00000579000.1_Silent_p.T121T|STARD3_ENST00000336308.5_5'Flank|PPP1R1B_ENST00000580825.1_Silent_p.T154T|STARD3_ENST00000544210.2_5'Flank|STARD3_ENST00000580611.1_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000394267.2_Silent_p.T118T	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	154					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAAAGACAACCTGTGGCCAGG	0.582																																						ENST00000254079.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(460-462)acC>acA		protein phosphatase 1, regulatory (inhibitor) subunit 1B							82.0	94.0	90.0					17																	37791876		2203	4300	6503	SO:0001819	synonymous_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37791876C>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.462C>A	17.37:g.37791876C>A						PPP1R1B_ENST00000394265.1_Silent_p.T118T|PPP1R1B_ENST00000580825.1_Silent_p.T154T|PPP1R1B_ENST00000579000.1_Silent_p.T121T|PPP1R1B_ENST00000394267.2_Silent_p.T118T	p.T154T	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		6	931	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		154					Q547V9|Q547W0|Q9H7G1	Silent	SNP	ENST00000254079.4	37	c.462C>A	CCDS11339.1																																																																																				0.582	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		43	45	1	0	7.05121e-23	1	7.84975e-23	43	45				
SLITRK2	84631	broad.mit.edu	37	X	144904206	144904206	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:144904206C>T	ENST00000370490.1	+	1	4518	c.263C>T	c.(262-264)gCg>gTg	p.A88V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A88V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	88					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TACTCCAACGCGGTGACTCTT	0.473																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(262-264)gCg>gTg		SLIT and NTRK-like family, member 2							86.0	79.0	82.0					X																	144904206		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904206C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.263C>T	X.37:g.144904206C>T	ENSP00000359521:p.Ala88Val					SLITRK2_ENST00000428560.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A88V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A88V	p.A88V			Q9H156	SLIK2_HUMAN			1	4518	+	Acute lymphoblastic leukemia(192;6.56e-05)		88					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.263C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917231	0.52546	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.08	4.2	0.49525	.	0.065559	0.64402	U	0.000010	T	0.20251	0.0487	N	0.01122	-1.005	0.38509	D	0.948426	B	0.20459	0.045	B	0.16722	0.016	T	0.06789	-1.0807	10	0.41790	T	0.15	-6.3643	12.2168	0.54410	0.0:0.8314:0.1686:0.0	.	88	Q9H156	SLIK2_HUMAN	V	88	ENSP00000334374:A88V;ENSP00000411681:A88V;ENSP00000359521:A88V;ENSP00000397015:A88V;ENSP00000407347:A88V;ENSP00000412010:A88V	ENSP00000334374:A88V	A	+	2	0	SLITRK2	144711898	1.000000	0.71417	0.682000	0.30024	0.867000	0.49689	5.667000	0.68067	0.886000	0.36113	0.600000	0.82982	GCG		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		14	36	0	0	0	1	0	14	36				
OSBP2	23762	broad.mit.edu	37	22	31302310	31302310	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31302310G>A	ENST00000332585.6	+	14	2839	c.2735G>A	c.(2734-2736)tGc>tAc	p.C912Y	OSBP2_ENST00000535268.1_Missense_Mutation_p.C456Y|OSBP2_ENST00000437268.2_Missense_Mutation_p.C655Y|OSBP2_ENST00000401475.1_Missense_Mutation_p.C545Y|OSBP2_ENST00000403222.3_Missense_Mutation_p.C746Y|OSBP2_ENST00000446658.2_Missense_Mutation_p.C911Y|OSBP2_ENST00000407373.1_Missense_Mutation_p.C739Y|OSBP2_ENST00000382310.3_3'UTR	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	912					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGGCATATGTGCCCCAACATC	0.547																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2734-2736)tGc>tAc		oxysterol binding protein 2							81.0	96.0	91.0					22																	31302310		2132	4240	6372	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31302310G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2735G>A	22.37:g.31302310G>A	ENSP00000332576:p.Cys912Tyr					OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000407373.1_Missense_Mutation_p.C739Y|OSBP2_ENST00000535268.1_Missense_Mutation_p.C456Y|OSBP2_ENST00000401475.1_Missense_Mutation_p.C545Y|OSBP2_ENST00000403222.3_Missense_Mutation_p.C746Y|OSBP2_ENST00000446658.2_Missense_Mutation_p.C911Y|OSBP2_ENST00000437268.2_Missense_Mutation_p.C655Y	p.C912Y	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			14	2839	+			912					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2735G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.989031|3.989031	0.74589|0.74589	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268	.|T;T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79108	.|0.992;0.982;0.992;0.99;0.99	T|T	0.73186|0.73186	-0.4062|-0.4062	5|10	.|0.87932	.|D	.|0	-18.1843|-18.1843	17.5484|17.5484	0.87869|0.87869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|655;746;739;911;912	.|F5H2A3;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;OSBP2_HUMAN	T|Y	584|746;739;912;911;545;655;456	.|ENSP00000384213:C746Y;ENSP00000385237:C739Y;ENSP00000332576:C912Y;ENSP00000392080:C911Y;ENSP00000385254:C545Y;ENSP00000389200:C655Y;ENSP00000438713:C456Y	.|ENSP00000332576:C912Y	A|C	+|+	1|2	0|0	OSBP2|OSBP2	29632310|29632310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.451000|7.451000	0.80668|0.80668	2.467000|2.467000	0.83353|0.83353	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.547	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		21	34	0	0	0	1	0	21	34				
ZMYM1	79830	broad.mit.edu	37	1	35563119	35563119	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35563119C>A	ENST00000373330.1	+	5	545	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S124Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	124						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACATTTCATCTGCCAGTTCA	0.388																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(370-372)tCt>tAt		zinc finger, MYM-type 1							118.0	120.0	119.0					1																	35563119		2077	4241	6318	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35563119C>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.371C>A	1.37:g.35563119C>A	ENSP00000362427:p.Ser124Tyr					ZMYM1_ENST00000359858.4_Missense_Mutation_p.S124Y|ZMYM1_ENST00000373329.1_3'UTR	p.S124Y			Q5SVZ6	ZMYM1_HUMAN			5	545	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	124					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.371C>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875609	0.72180	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.18810	2.19;2.5;2.23;2.5	5.2	5.2	0.72013	TRASH (1);	0.143577	0.32918	N	0.005491	T	0.38188	0.1031	L	0.40543	1.245	0.30700	N	0.750429	B;D;D	0.71674	0.415;0.998;0.982	B;D;P	0.64042	0.2;0.921;0.776	T	0.15150	-1.0447	10	0.87932	D	0	-9.1608	19.3014	0.94145	0.0:1.0:0.0:0.0	.	124;124;124	B4DSJ9;Q5SVZ6;Q5SVZ7	.;ZMYM1_HUMAN;.	Y	124;124;49;124	ENSP00000394233:S124Y;ENSP00000352920:S124Y;ENSP00000362426:S49Y;ENSP00000362427:S124Y	ENSP00000352920:S124Y	S	+	2	0	ZMYM1	35335706	0.985000	0.35326	0.595000	0.28798	0.901000	0.52897	5.525000	0.67110	2.854000	0.98071	0.655000	0.94253	TCT		0.388	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		44	64	1	0	1.57945e-13	1	1.71745e-13	44	64				
DNAH11	8701	broad.mit.edu	37	7	21827038	21827038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21827038C>T	ENST00000409508.3	+	60	9792	c.9761C>T	c.(9760-9762)gCa>gTa	p.A3254V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A3261V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3261	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTGCAAGCATTAATTAAC	0.343									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9781-9783)gCa>gTa		dynein, axonemal, heavy chain 11							82.0	79.0	80.0					7																	21827038		1824	4086	5910	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21827038C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9761C>T	7.37:g.21827038C>T	ENSP00000475939:p.Ala3254Val					DNAH11_ENST00000409508.3_Missense_Mutation_p.A3254V	p.A3261V			Q96DT5	DYH11_HUMAN			61	9813	+			3261			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9782C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.071065	0.76301	.	.	ENSG00000105877	ENST00000328843	T	0.74947	-0.89	5.74	5.74	0.90152	Dynein heavy chain, coiled coil stalk (1);	0.334374	0.30575	N	0.009325	D	0.86024	0.5834	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.86680	0.1916	9	0.59425	D	0.04	.	16.1985	0.82046	0.1335:0.8665:0.0:0.0	.	3261	Q96DT5	DYH11_HUMAN	V	3261	ENSP00000330671:A3261V	ENSP00000330671:A3261V	A	+	2	0	DNAH11	21793563	0.998000	0.40836	0.992000	0.48379	0.979000	0.70002	3.843000	0.55865	2.710000	0.92621	0.563000	0.77884	GCA		0.343	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	32	0	0	0	1	0	14	32				
NPAS3	64067	broad.mit.edu	37	14	34269142	34269142	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:34269142C>T	ENST00000356141.4	+	12	1629	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	NPAS3_ENST00000357798.5_Silent_p.G530G|NPAS3_ENST00000548645.1_Silent_p.G513G|NPAS3_ENST00000346562.2_Silent_p.G511G|NPAS3_ENST00000551492.1_Silent_p.G548G			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	543					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCAAGGCGGGCGAGGACGGCT	0.632																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1531-1533)ggC>ggT		neuronal PAS domain protein 3							56.0	59.0	58.0					14																	34269142		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269142C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1629C>T	14.37:g.34269142C>T						NPAS3_ENST00000356141.4_Silent_p.G543G|NPAS3_ENST00000551492.1_Silent_p.G548G|NPAS3_ENST00000548645.1_Silent_p.G513G|NPAS3_ENST00000357798.5_Silent_p.G530G	p.G511G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1607	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		543					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1533C>T	CCDS53891.1																																																																																				0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			6	14	0	0	0	1	0	6	14				
EPRS	2058	broad.mit.edu	37	1	220156131	220156131	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:220156131C>T	ENST00000366923.3	-	23	3625	c.3356G>A	c.(3355-3357)cGt>cAt	p.R1119H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1119	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACTAGTAGGACGAATGGCAAT	0.403																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3355-3357)cGt>cAt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						151.0	149.0	150.0					1																	220156131		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220156131C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3356G>A	1.37:g.220156131C>T	ENSP00000355890:p.Arg1119His						p.R1119H	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	23	3625	-			1119			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3356G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407226	0.96051	.	.	ENSG00000136628	ENST00000366923	T	0.73469	-0.75	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.099482	0.64402	D	0.000002	D	0.93549	0.7941	H	0.99800	4.79	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.96372	0.9274	10	0.87932	D	0	-6.8977	19.7873	0.96444	0.0:1.0:0.0:0.0	.	1119	P07814	SYEP_HUMAN	H	1119	ENSP00000355890:R1119H	ENSP00000355890:R1119H	R	-	2	0	EPRS	218222754	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.591000	0.82666	2.683000	0.91414	0.644000	0.83932	CGT		0.403	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		38	70	0	0	0	1	0	38	70				
SLC25A22	79751	broad.mit.edu	37	11	800378	800378	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:800378G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Silent_p.Y705Y|PIDD_ENST00000411829.2_Intron|PIDD_ENST00000534649.1_5'Flank	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGTCACGTATACCTCCT	0.642																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.(2113-2115)taC>taT		p53-induced death domain protein							66.0	62.0	64.0					11																	800378		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800378G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800378G>A	Exception_encountered					PIDD_ENST00000411829.2_Intron	p.Y705Y	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			13	2256	-			705					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000531214.1	37	c.2115C>T	CCDS7715.1																																																																																				0.642	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			15	23	0	0	0	1	0	15	23				
ANKRD30B	374860	broad.mit.edu	37	18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	rs372948852		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171.0	145.0	152.0					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	46	1	0	0.014758	1	0.0148771	5	46				
RNF111	54778	broad.mit.edu	37	15	59377913	59377913	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59377913C>T	ENST00000557998.1	+	10	2766	c.2479C>T	c.(2479-2481)Cat>Tat	p.H827Y	RNF111_ENST00000561186.1_Missense_Mutation_p.H836Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H836Y|RNF111_ENST00000348370.4_Missense_Mutation_p.H827Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H836Y	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	827					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGGTGCATTGCATCCTCACTT	0.418																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2479-2481)Cat>Tat		ring finger protein 111							157.0	130.0	139.0					15																	59377913		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59377913C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2479C>T	15.37:g.59377913C>T	ENSP00000452732:p.His827Tyr					RNF111_ENST00000561186.1_Missense_Mutation_p.H836Y|RNF111_ENST00000434298.1_Missense_Mutation_p.H836Y|RNF111_ENST00000559209.1_Missense_Mutation_p.H836Y|RNF111_ENST00000557998.1_Missense_Mutation_p.H827Y	p.H827Y	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	10	2912	+			827					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2479C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760437	0.89932	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17854	2.27;2.25	5.27	5.27	0.74061	.	0.048624	0.85682	D	0.000000	T	0.26702	0.0653	L	0.51422	1.61	0.80722	D	1	D;P;P	0.52996	0.957;0.911;0.946	P;B;B	0.50270	0.636;0.247;0.429	T	0.00619	-1.1641	10	0.27785	T	0.31	-6.8346	18.233	0.89939	0.0:1.0:0.0:0.0	.	836;827;827	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Y	827;836	ENSP00000288199:H827Y;ENSP00000393641:H836Y	ENSP00000288199:H827Y	H	+	1	0	RNF111	57165205	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.548000	0.73896	2.610000	0.88304	0.655000	0.94253	CAT		0.418	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		4	87	0	0	0	1	0	4	87				
RP11-24M17.5	0	broad.mit.edu	37	15	76075521	76075521	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:76075521G>A	ENST00000395215.3	+	0	1161				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaagcaggaa	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075521G>A																													15.37:g.76075521G>A														0	1161	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	218	0	0	0	1	0	6	218				
ADAMTS16	170690	broad.mit.edu	37	5	5303789	5303789	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5303789C>T	ENST00000274181.7	+	20	3234	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1032	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCTGCACCTCCGAGCCCAAGC	0.652																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3094-3096)tcC>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							35.0	42.0	40.0					5																	5303789		2131	4257	6388	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303789C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3096C>T	5.37:g.5303789C>T							p.S1032S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			20	3234	+			1032			TSP type-1 4.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3096C>T	CCDS43299.1																																																																																				0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	24	0	0	0	1	0	5	24				
RFC3	5983	broad.mit.edu	37	13	34404122	34404122	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:34404122G>A	ENST00000380071.3	+	5	671	c.541G>A	c.(541-543)Gcg>Acg	p.A181T	RFC3_ENST00000434425.1_Missense_Mutation_p.A181T|RNU5A-4P_ENST00000516588.1_RNA	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	181					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TAGGTGCTTGGCGGTTCGTGT	0.403																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(541-543)Gcg>Acg		replication factor C (activator 1) 3, 38kDa							167.0	144.0	152.0					13																	34404122		2203	4300	6503	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34404122G>A		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.541G>A	13.37:g.34404122G>A	ENSP00000369411:p.Ala181Thr					RFC3_ENST00000434425.1_Missense_Mutation_p.A181T	p.A181T	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	5	671	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	181					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.541G>A	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326338	0.41197	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.40756	1.02;1.02	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.098186	0.64402	D	0.000001	T	0.31918	0.0812	L	0.35414	1.06	0.58432	D	0.999992	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.17433	0.018;0.015;0.009	T	0.09079	-1.0691	10	0.16420	T	0.52	-9.0598	13.701	0.62608	0.0765:0.0:0.9235:0.0	.	181;181;181	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	T	181	ENSP00000369411:A181T;ENSP00000401001:A181T	ENSP00000369411:A181T	A	+	1	0	RFC3	33302122	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.398000	0.79919	2.567000	0.86603	0.650000	0.86243	GCG		0.403	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		29	53	0	0	0	1	0	29	53				
GSK3A	2931	broad.mit.edu	37	19	42736822	42736822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42736822G>A	ENST00000222330.3	-	9	1238	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	GSK3A_ENST00000398249.4_Nonsense_Mutation_p.R289*	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGCGGCGTTCGAGATTTGAAC	0.592																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(865-867)Cga>Tga		glycogen synthase kinase 3 alpha							48.0	49.0	49.0					19																	42736822		2203	4300	6503	SO:0001587	stop_gained	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42736822G>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1111C>T	19.37:g.42736822G>A	ENSP00000222330:p.Arg371*					GSK3A_ENST00000222330.3_Nonsense_Mutation_p.R371*	p.R289*			P49840	GSK3A_HUMAN			8	2578	-		Prostate(69;0.00682)	371			Protein kinase.		O14959	Nonsense_Mutation	SNP	ENST00000222330.3	37	c.865C>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	G	38	7.199391	0.98129	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	.	.	.	4.92	2.71	0.32032	.	0.081794	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9812	10.4079	0.44274	0.1673:0.0:0.8327:0.0	.	.	.	.	X	371;289;316	.	ENSP00000222330:R371X	R	-	1	2	GSK3A	47428662	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	4.097000	0.57741	1.194000	0.43101	0.561000	0.74099	CGA		0.592	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			6	12	0	0	0	1	0	6	12				
RASEF	158158	broad.mit.edu	37	9	85615852	85615852	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85615852C>T	ENST00000376447.3	-	10	1656	c.1396G>A	c.(1396-1398)Ggg>Agg	p.G466R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	466					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G466R(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTGCACCCCGTGTGACCTC	0.502																																						ENST00000376447.3																			1	Substitution - Missense(1)	p.G466R(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1396-1398)Ggg>Agg		RAS and EF-hand domain containing							91.0	78.0	83.0					9																	85615852		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615852C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1396G>A	9.37:g.85615852C>T	ENSP00000365630:p.Gly466Arg						p.G466R	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			10	1656	-			466					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1396G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	0.671	-0.801775	0.02841	.	.	ENSG00000165105	ENST00000376447	T	0.59906	0.23	5.7	-0.0415	0.13867	.	1.005260	0.07989	N	0.986812	T	0.22742	0.0549	N	0.00707	-1.245	0.09310	N	0.999998	B	0.16603	0.018	B	0.06405	0.002	T	0.15752	-1.0426	10	0.38643	T	0.18	.	5.3097	0.15823	0.2571:0.3983:0.0:0.3446	.	466	Q8IZ41	RASEF_HUMAN	R	466	ENSP00000365630:G466R	ENSP00000365630:G466R	G	-	1	0	RASEF	84805672	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.426000	0.21363	0.042000	0.15717	-0.225000	0.12378	GGG		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		8	41	0	0	0	1	0	8	41				
HELZ	9931	broad.mit.edu	37	17	65162627	65162627	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:65162627C>T	ENST00000358691.5	-	15	2028	c.1862G>A	c.(1861-1863)aGt>aAt	p.S621N	HELZ_ENST00000580168.1_Missense_Mutation_p.S621N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	621						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGAGTCATACTGATGTCTGG	0.368																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1861-1863)aGt>aAt		helicase with zinc finger							150.0	140.0	143.0					17																	65162627		1874	4120	5994	SO:0001583	missense	9931							g.chr17:65162627C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1862G>A	17.37:g.65162627C>T	ENSP00000351524:p.Ser621Asn					HELZ_ENST00000580168.1_Missense_Mutation_p.S621N	p.S621N	NM_014877.3	NP_055692.2					15	2028	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1862G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188931	0.38707	.	.	ENSG00000198265	ENST00000358691	D	0.83591	-1.74	5.62	0.816	0.18768	.	0.210418	0.64402	D	0.000020	T	0.66096	0.2755	N	0.19112	0.55	0.37495	D	0.916533	P;P	0.42941	0.794;0.69	B;B	0.33042	0.085;0.157	T	0.67593	-0.5631	10	0.29301	T	0.29	-5.4502	14.0755	0.64887	0.0:0.763:0.1562:0.0808	.	621;621	B7ZLW2;P42694	.;HELZ_HUMAN	N	621	ENSP00000351524:S621N	ENSP00000351524:S621N	S	-	2	0	HELZ	62593089	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.604000	0.46274	0.717000	0.32145	0.491000	0.48974	AGT		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		35	51	0	0	0	1	0	35	51				
NUP107	57122	broad.mit.edu	37	12	69094603	69094603	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69094603T>C	ENST00000229179.4	+	7	982	c.650T>C	c.(649-651)gTc>gCc	p.V217A	NUP107_ENST00000539906.1_Missense_Mutation_p.V188A|NUP107_ENST00000378905.2_Missense_Mutation_p.V66A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	217					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGGAGATGGTCACATGGAGG	0.373																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(649-651)gTc>gCc		nucleoporin 107kDa							89.0	90.0	90.0					12																	69094603		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69094603T>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.650T>C	12.37:g.69094603T>C	ENSP00000229179:p.Val217Ala					NUP107_ENST00000539906.1_Missense_Mutation_p.V188A|NUP107_ENST00000378905.2_Missense_Mutation_p.V66A	p.V217A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		7	982	+	Breast(13;6.25e-06)		217					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.650T>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619845	0.46736	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.25	5.25	0.73442	.	0.239550	0.40908	D	0.000982	T	0.47600	0.1454	L	0.39898	1.24	0.51482	D	0.999928	B;B;B	0.33448	0.412;0.035;0.412	B;B;B	0.30316	0.114;0.05;0.114	T	0.43196	-0.9406	8	.	.	.	-12.883	15.1368	0.72572	0.0:0.0:0.0:1.0	.	188;66;217	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	A	217;66;188	.	.	V	+	2	0	NUP107	67380870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.824000	0.55723	2.134000	0.65973	0.459000	0.35465	GTC		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		33	45	0	0	0	1	0	33	45				
OTOGL	283310	broad.mit.edu	37	12	80762088	80762088	+	Splice_Site	SNP	C	C	T	rs574033095		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:80762088C>T	ENST00000547103.1	+	54	6557	c.6551C>T	c.(6550-6552)gCg>gTg	p.A2184V	OTOGL_ENST00000458043.2_Splice_Site_p.A2196V|OTOGL_ENST00000546620.1_Splice_Site_p.A215V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2184					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.A2196V(2)|p.A561V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTGTATACGCGGTATGTTTC	0.428																																						ENST00000458043.2																			3	Substitution - Missense(3)	p.A2196V(2)|p.A561V(1)	lung(2)|prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e54+1		otogelin-like							119.0	104.0	109.0					12																	80762088		2203	4300	6503	SO:0001630	splice_region_variant	283310							g.chr12:80762088C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6552+1C>T	12.37:g.80762088C>T						OTOGL_ENST00000547103.1_Splice_Site_p.A2184_splice|OTOGL_ENST00000546620.1_Splice_Site_p.A215_splice	p.A2196_splice	NM_173591.3	NP_775862.3					54	6593	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37	c.6588_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.068|8.068	0.769665|0.769665	0.15983|0.15983	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.44482|.	2.3;2.3;2.21;0.92|.	5.47|5.47	0.318|0.318	0.15867|0.15867	.|.	0.311579|.	0.28448|.	N|.	0.015308|.	T|T	0.23451|0.23451	0.0567|0.0567	L|L	0.34521|0.34521	1.04|1.04	0.21762|0.21762	N|N	0.999556|0.999556	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.24012|0.24012	-1.0172|-1.0172	10|5	0.29301|.	T|.	0.29|.	.|.	1.9303|1.9303	0.03325|0.03325	0.4712:0.2719:0.1355:0.1214|0.4712:0.2719:0.1355:0.1214	.|.	561|.	Q3ZCN5|.	OTOGL_HUMAN|.	V|W	2184;2196;215;213|604	ENSP00000447211:A2184V;ENSP00000400895:A2196V;ENSP00000449094:A215V;ENSP00000449641:A213V|.	ENSP00000400895:A2196V|.	A|R	+|+	2|1	0|2	OTOGL|OTOGL	79286219|79286219	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.196000|0.196000	0.23810|0.23810	1.060000|1.060000	0.30530|0.30530	-0.189000|-0.189000	0.10482|0.10482	-1.622000|-1.622000	0.00790|0.00790	GCG|CGG		0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Missense_Mutation	3	5	0	0	0	1	0	3	5				
CYP4F8	11283	broad.mit.edu	37	19	15739226	15739226	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:15739226C>T	ENST00000441682.2	+	0	1291							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCTCCCAGACAGCCGAGTCA	0.642																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							63.0	73.0	70.0					19																	15739226		2197	4299	6496			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739226C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739226C>T										P98187	CP4F8_HUMAN			0	1291	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.642	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		11	51	0	0	0	1	0	11	51				
NPM3	10360	broad.mit.edu	37	10	103541551	103541551	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103541551T>C	ENST00000370110.5	-	5	501	c.479A>G	c.(478-480)gAg>gGg	p.E160G	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	160	Asp/Glu-rich (highly acidic).				rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		AACTTCTTCCTCATCACTGTC	0.547											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(478-480)gAg>gGg		nucleophosmin/nucleoplasmin 3							337.0	294.0	308.0					10																	103541551		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103541551T>C	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.479A>G	10.37:g.103541551T>C	ENSP00000359128:p.Glu160Gly		OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1374	NPM3_ENST00000474993.1_5'UTR	p.E160G	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	501	-		Colorectal(252;0.122)	160			Asp/Glu-rich (highly acidic).		Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.479A>G	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.340144	0.24339	.	.	ENSG00000107833	ENST00000370110	T	0.49720	0.77	5.23	4.09	0.47781	.	0.893863	0.09900	N	0.741193	T	0.41305	0.1153	L	0.48642	1.525	0.20489	N	0.999892	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.54805	T	0.06	-9.0613	7.5885	0.28006	0.0:0.0948:0.0:0.9052	.	160	O75607	NPM3_HUMAN	G	160	ENSP00000359128:E160G	ENSP00000359128:E160G	E	-	2	0	NPM3	103531541	0.078000	0.21339	0.850000	0.33497	0.043000	0.13939	0.986000	0.29590	1.017000	0.39495	0.533000	0.62120	GAG		0.547	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		13	98	0	0	0	1	0	13	98				
ACACA	31	broad.mit.edu	37	17	35591985	35591985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:35591985G>A	ENST00000394406.2	-	25	3230	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	ACACA_ENST00000360679.3_Nonsense_Mutation_p.R956*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R936*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.R1051*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1014					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCTTCTCGGAGGGCGAAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3151-3153)Cga>Tga		acetyl-CoA carboxylase alpha	Biotin(DB00121)						193.0	158.0	170.0					17																	35591985		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591985G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3040C>T	17.37:g.35591985G>A	ENSP00000377928:p.Arg1014*					ACACA_ENST00000394406.2_Nonsense_Mutation_p.R1014*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R956*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.R936*	p.R1051*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			25	3632	-		Breast(25;0.00157)|Ovarian(249;0.15)	1014					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.3151C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.298322	0.99655	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5059	18.742	0.91777	0.0:0.0:1.0:0.0	.	.	.	.	X	1051;956;1014;1038;936	.	ENSP00000335323:R936X	R	-	1	2	ACACA	32666098	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.944000	0.87722	2.690000	0.91761	0.655000	0.94253	CGA		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		29	54	0	0	0	1	0	29	54				
POLR2B	5431	broad.mit.edu	37	4	57860573	57860573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:57860573C>T	ENST00000381227.1	+	5	660	c.247C>T	c.(247-249)Cga>Tga	p.R83*	snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R76*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R83*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R8*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	83					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTTCAGCCACGATATTTGCT	0.318																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(247-249)Cga>Tga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							46.0	44.0	44.0					4																	57860573		2203	4300	6503	SO:0001587	stop_gained	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860573C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.247C>T	4.37:g.57860573C>T	ENSP00000370625:p.Arg83*					POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R76*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R83*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R8*	p.R83*			P30876	RPB2_HUMAN			5	660	+	Glioma(25;0.08)|all_neural(26;0.181)		83					A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	c.247C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	c	37	6.264451	0.97426	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.18	0.911	0.19343	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1272	0.31005	0.5175:0.3803:0.0:0.1022	.	.	.	.	X	83;8;76;83	.	ENSP00000312735:R83X	R	+	1	2	POLR2B	57555330	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.510000	0.53393	0.365000	0.24400	-0.375000	0.07067	CGA		0.318	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		13	18	0	0	0	1	0	13	18				
ZNF362	149076	broad.mit.edu	37	1	33747315	33747315	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33747315G>A	ENST00000539719.1	+	6	981	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	ZNF362_ENST00000373428.5_Missense_Mutation_p.A271T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCCTACCTGGCCCAGCACCT	0.612																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(811-813)Gcc>Acc		zinc finger protein 362							197.0	175.0	183.0					1																	33747315		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33747315G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.811G>A	1.37:g.33747315G>A	ENSP00000446335:p.Ala271Thr					ZNF362_ENST00000373428.5_Missense_Mutation_p.A271T	p.A271T	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			6	981	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	271					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.811G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585587	0.86748	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.08008	3.14;3.14	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.185397	0.25968	N	0.027152	T	0.03871	0.0109	N	0.02213	-0.635	0.50467	D	0.999878	B	0.24963	0.115	B	0.24269	0.052	T	0.47661	-0.9100	10	0.09338	T	0.73	-26.802	16.855	0.86003	0.0:0.0:1.0:0.0	.	271	Q5T0B9	ZN362_HUMAN	T	271	ENSP00000446335:A271T;ENSP00000362527:A271T	ENSP00000362527:A271T	A	+	1	0	ZNF362	33519902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.513000	0.60476	2.564000	0.86499	0.561000	0.74099	GCC		0.612	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		35	43	0	0	0	1	0	35	43				
MYH6	4624	broad.mit.edu	37	14	23858175	23858175	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23858175C>T	ENST00000356287.3	-	28	4097	c.4068G>A	c.(4066-4068)aaG>aaA	p.K1356K	MYH6_ENST00000405093.3_Silent_p.K1356K|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1356					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCAGCTCGGCCTTGGCCTCTG	0.662																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4066-4068)aaG>aaA		myosin, heavy chain 6, cardiac muscle, alpha							65.0	58.0	61.0					14																	23858175		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858175C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4068G>A	14.37:g.23858175C>T						MYH6_ENST00000356287.3_Silent_p.K1356K	p.K1356K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	29	4138	-	all_cancers(95;2.54e-05)		1356					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4068G>A	CCDS9600.1																																																																																				0.662	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			13	36	0	0	0	1	0	13	36				
FCAMR	83953	broad.mit.edu	37	1	207135710	207135710	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:207135710C>T	ENST00000324852.4	-	5	974	c.500G>A	c.(499-501)cGt>cAt	p.R167H	FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000400962.3_Missense_Mutation_p.R167H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R167H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	122	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CACACGGTCACGATAGCGATG	0.567																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(499-501)cGt>cAt		Fc receptor, IgA, IgM, high affinity							106.0	98.0	100.0					1																	207135710		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135710C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.500G>A	1.37:g.207135710C>T	ENSP00000316491:p.Arg167His					FCAMR_ENST00000400962.3_Missense_Mutation_p.R167H|FCAMR_ENST00000450945.2_Missense_Mutation_p.R167H	p.R167H	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			5	974	-			122			Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.500G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	7.171	0.587682	0.13812	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.66280	-0.2;-0.2;-0.2	5.6	-8.6	0.00889	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.446270	0.03968	N	0.291102	T	0.46908	0.1417	L	0.31120	0.905	0.09310	N	1	B;P;B;B	0.34757	0.023;0.467;0.205;0.078	B;B;B;B	0.34590	0.007;0.186;0.098;0.023	T	0.49986	-0.8880	10	0.45353	T	0.12	3.9145	11.208	0.48782	0.0999:0.1212:0.0:0.7789	.	122;142;122;122	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	H	167;167;167;143	ENSP00000383746:R167H;ENSP00000316491:R167H;ENSP00000392707:R167H	ENSP00000316491:R167H	R	-	2	0	FCAMR	205202333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.129000	0.03244	-1.812000	0.01227	-0.302000	0.09304	CGT		0.567	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		6	26	0	0	0	1	0	6	26				
RAE1	8480	broad.mit.edu	37	20	55948750	55948750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:55948750C>T	ENST00000395841.2	+	10	1201	c.781C>T	c.(781-783)Cga>Tga	p.R261*	RAE1_ENST00000395840.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000371242.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000527947.1_Nonsense_Mutation_p.R261*	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	261					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.R261*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TAAATGTCATCGATCTAATGG	0.403																																						ENST00000395841.2																			1	Substitution - Nonsense(1)	p.R261*(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(781-783)Cga>Tga		ribonucleic acid export 1							224.0	215.0	218.0					20																	55948750		2203	4300	6503	SO:0001587	stop_gained	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948750C>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.781C>T	20.37:g.55948750C>T	ENSP00000379182:p.Arg261*					RAE1_ENST00000371242.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000395840.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000527947.1_Nonsense_Mutation_p.R261*	p.R261*	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		10	1201	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		261					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Nonsense_Mutation	SNP	ENST00000395841.2	37	c.781C>T	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.231739	0.98150	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6719	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000360286:R261X	R	+	1	2	RAE1	55382157	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.794000	0.62482	2.716000	0.92895	0.655000	0.94253	CGA		0.403	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			5	209	0	0	0	1	0	5	209				
CTNNA2	1496	broad.mit.edu	37	2	80808885	80808885	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:80808885C>T	ENST00000402739.4	+	13	1953	c.1948C>T	c.(1948-1950)Cgt>Tgt	p.R650C	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R684C|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R329C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R650C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	650					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTATGATGTGCGTAGCAGGAC	0.458																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1948-1950)Cgt>Tgt		catenin (cadherin-associated protein), alpha 2							103.0	108.0	106.0					2																	80808885		2088	4192	6280	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80808885C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1948C>T	2.37:g.80808885C>T	ENSP00000384638:p.Arg650Cys					CTNNA2_ENST00000496558.1_Missense_Mutation_p.R650C|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R684C|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R650C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R650C|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R329C	p.R650C			P26232	CTNA2_HUMAN			18	2672	+			650					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1948C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.488379	0.96323	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.74023	0.886;0.982;0.931;0.931	T	0.68465	-0.5401	9	.	.	.	.	19.8306	0.96634	0.0:1.0:0.0:0.0	.	282;650;650;650	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	C	650;650;684;650;650;650;329	ENSP00000418191:R650C;ENSP00000419295:R650C;ENSP00000355398:R684C;ENSP00000384638:R650C;ENSP00000444675:R650C;ENSP00000441705:R650C;ENSP00000341500:R329C	.	R	+	1	0	CTNNA2	80662396	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.926000	0.70070	2.672000	0.90937	0.650000	0.86243	CGT		0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	12	0	0	0	1	0	13	12				
ZNF142	7701	broad.mit.edu	37	2	219508081	219508081	+	Missense_Mutation	SNP	C	C	T	rs200582262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219508081C>T	ENST00000449707.1	-	8	3579	c.3158G>A	c.(3157-3159)cGt>cAt	p.R1053H	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1053H	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCCCCGCCACGTCCCCCCCT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16603	0.0		0.0	False		,,,				2504	0.0				Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3157-3159)cGt>cAt		zinc finger protein 142		C	HIS/ARG	1,3855		0,1,1927	40.0	46.0	44.0		3158	1.9	0.0	2		44	0,8226		0,0,4113	yes	missense	ZNF142	NM_001105537.1	29	0,1,6040	TT,TC,CC		0.0,0.0259,0.0083	benign	1053/1688	219508081	1,12081	1928	4113	6041	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508081C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3158G>A	2.37:g.219508081C>T	ENSP00000408643:p.Arg1053His					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1053H	p.R1053H			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3937	-		Renal(207;0.0474)	1053					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3158G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	2.447	-0.327195	0.05350	2.59E-4	0.0	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11821	2.74;2.74	4.76	1.93	0.25924	.	0.640933	0.15102	N	0.280473	T	0.09291	0.0229	L	0.29908	0.895	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.10450	0.005;0.002	T	0.25467	-1.0131	10	0.42905	T	0.14	-19.6554	6.6284	0.22843	0.0:0.7015:0.0:0.2985	.	1053;890	P52746;A8MWU9	ZN142_HUMAN;.	H	1053	ENSP00000408643:R1053H;ENSP00000398798:R1053H	ENSP00000398798:R1053H	R	-	2	0	ZNF142	219216325	0.228000	0.23718	0.004000	0.12327	0.013000	0.08279	1.304000	0.33482	0.707000	0.31934	-0.150000	0.13652	CGT		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		11	44	0	0	0	1	0	11	44				
ADAMTS3	9508	broad.mit.edu	37	4	73169736	73169736	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:73169736C>T	ENST00000286657.4	-	17	2358	c.2322G>A	c.(2320-2322)tcG>tcA	p.S774S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	774	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGGTCCGCGACTTGGCTT	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2320-2322)tcG>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 3							205.0	204.0	204.0					4																	73169736		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169736C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2322G>A	4.37:g.73169736C>T							p.S774S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2358	-			774			Spacer.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.2322G>A	CCDS3553.1																																																																																				0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			61	86	0	0	0	1	0	61	86				
C19orf47	126526	broad.mit.edu	37	19	40834430	40834430	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:40834430A>C	ENST00000582783.1	-	6	452	c.440T>G	c.(439-441)cTg>cGg	p.L147R	C19orf47_ENST00000392035.2_Missense_Mutation_p.L80R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	147						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GTCATGGTTCAGGCTGTTGGT	0.607																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(439-441)cTg>cGg		chromosome 19 open reading frame 47							180.0	183.0	182.0					19																	40834430		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40834430A>C	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.440T>G	19.37:g.40834430A>C	ENSP00000463159:p.Leu147Arg					C19orf47_ENST00000392035.2_Missense_Mutation_p.L80R	p.L147R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	452	-			147					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.440T>G	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861769	0.71949	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	D	0.99214	-5.57	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.99205	0.9724	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99940	1.1398	10	0.21540	T	0.41	0.006	14.4282	0.67230	1.0:0.0:0.0:0.0	.	147	Q8N9M1	CS047_HUMAN	R	147;80	ENSP00000375889:L80R	ENSP00000350556:L147R	L	-	2	0	C19orf47	45526270	1.000000	0.71417	0.999000	0.59377	0.323000	0.28346	8.567000	0.90737	2.119000	0.64992	0.379000	0.24179	CTG		0.607	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		27	101	0	0	0	1	0	27	101				
TOX2	84969	broad.mit.edu	37	20	42694485	42694485	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:42694485G>A	ENST00000358131.5	+	6	1248	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	TOX2_ENST00000341197.4_Missense_Mutation_p.R365H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.R323H|TOX2_ENST00000423191.2_Missense_Mutation_p.R323H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	347					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGCCTTCCGCAGTGGGGCC	0.697																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1039-1041)cGc>cAc		TOX high mobility group box family member 2							53.0	57.0	56.0					20																	42694485		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694485G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1040G>A	20.37:g.42694485G>A	ENSP00000350849:p.Arg347His					TOX2_ENST00000423191.1_Missense_Mutation_p.R323H|TOX2_ENST00000435864.2_Missense_Mutation_p.R243H|TOX2_ENST00000372999.1_Missense_Mutation_p.R323H|TOX2_ENST00000341197.3_Missense_Mutation_p.R365H	p.R347H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1248	+		Myeloproliferative disorder(115;0.00452)	347					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1040G>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675593	0.67928	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.16597	2.72;2.73;2.73;2.33;2.49	5.11	4.16	0.48862	.	0.426017	0.27518	N	0.019018	T	0.32041	0.0816	L	0.48642	1.525	0.41391	D	0.987616	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.991;0.991	T	0.02307	-1.1179	10	0.27785	T	0.31	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	243;365;347;323	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	H	365;323;323;347;243	ENSP00000344724:R365H;ENSP00000390278:R323H;ENSP00000362090:R323H;ENSP00000350849:R347H;ENSP00000396777:R243H	ENSP00000344724:R365H	R	+	2	0	TOX2	42127899	0.998000	0.40836	0.995000	0.50966	0.834000	0.47266	2.845000	0.48254	1.282000	0.44496	-0.136000	0.14681	CGC		0.697	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			23	25	0	0	0	1	0	23	25				
SUSD5	26032	broad.mit.edu	37	3	33194726	33194726	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:33194726C>T	ENST00000309558.3	-	5	1815	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	466					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTGGTACTTCGTCAAGTCAC	0.507																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1396-1398)acG>acA		sushi domain containing 5							96.0	97.0	97.0					3																	33194726		2007	4175	6182	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194726C>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1398G>A	3.37:g.33194726C>T							p.T466T	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1815	-			466						Silent	SNP	ENST00000309558.3	37	c.1398G>A	CCDS46787.1																																																																																				0.507	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		18	33	0	0	0	1	0	18	33				
IZUMO2	126123	broad.mit.edu	37	19	50657963	50657963	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50657963C>T	ENST00000293405.3	-	6	517	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	173						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TACTGCAGGGCCACGCGGGGT	0.607																																						ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(517-519)Gcc>Acc		IZUMO family member 2							108.0	120.0	116.0					19																	50657963		2042	4159	6201	SO:0001583	missense	126123					integral to membrane		g.chr19:50657963C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.517G>A	19.37:g.50657963C>T	ENSP00000293405:p.Ala173Thr						p.A173T	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			6	517	-			173					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.517G>A	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.792|7.792	0.711752|0.711752	0.15306|0.15306	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.24151|.	1.87|.	3.43|3.43	-3.92|-3.92	0.04155|0.04155	.|.	.|.	.|.	.|.	.|.	T|.	0.11410|.	0.0278|.	N|N	0.04880|0.04880	-0.145|-0.145	0.21878|0.21878	N|N	0.999499|0.999499	B|.	0.13145|.	0.007|.	B|.	0.06405|.	0.002|.	T|.	0.22382|.	-1.0218|.	9|.	0.19590|0.62326	T|D	0.45|0.03	.|.	0.7906|0.7906	0.01057|0.01057	0.1662:0.2707:0.1641:0.399|0.1662:0.2707:0.1641:0.399	.|.	173|.	Q6UXV1|.	IZUM2_HUMAN|.	T|X	173|137	ENSP00000293405:A173T|.	ENSP00000293405:A173T|ENSP00000366199:W137X	A|W	-|-	1|3	0|0	IZUMO2|IZUMO2	55349775|55349775	0.001000|0.001000	0.12720|0.12720	0.818000|0.818000	0.32626|0.32626	0.158000|0.158000	0.22134|0.22134	-1.687000|-1.687000	0.01927|0.01927	-0.689000|-0.689000	0.05149|0.05149	0.305000|0.305000	0.20034|0.20034	GCC|TGG		0.607	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		10	54	0	0	0	1	0	10	54				
PCDHA3	56145	broad.mit.edu	37	5	140181323	140181323	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140181323G>A	ENST00000522353.2	+	1	541	c.541G>A	c.(541-543)Gac>Aac	p.D181N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D181N|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTACCTTGGACGTTAAAAG	0.388																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(541-543)Gac>Aac									61.0	65.0	64.0					5																	140181323		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181323G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.541G>A	5.37:g.140181323G>A	ENSP00000429808:p.Asp181Asn					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D181N|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.D181N	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	541	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.541G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	6.677	0.493479	0.12702	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52754	0.65;0.65	4.86	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.416363	0.17448	U	0.173870	T	0.48519	0.1504	L	0.53561	1.675	0.26967	N	0.96567	B;B	0.16396	0.013;0.017	B;B	0.24848	0.056;0.049	T	0.46925	-0.9156	10	0.62326	D	0.03	.	16.5246	0.84327	0.0712:0.0:0.9288:0.0	.	181;181	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	181	ENSP00000429808:D181N;ENSP00000434086:D181N	ENSP00000429808:D181N	D	+	1	0	PCDHA3	140161507	0.971000	0.33674	0.996000	0.52242	0.221000	0.24807	4.833000	0.62766	0.586000	0.29626	-1.595000	0.00837	GAC		0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		14	35	0	0	0	1	0	14	35				
TRAF3IP2	10758	broad.mit.edu	37	6	111896846	111896846	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111896846G>A	ENST00000340026.6	-	5	1822	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000359831.4_Splice_Site_p.R401W|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'Flank|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2_ENST00000368761.5_Splice_Site_p.R401W|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	410	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AACAACTTACGCAATTCTTCT	0.493																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.e4+1		TRAF3 interacting protein 2							82.0	81.0	81.0					6																	111896846		2203	4300	6503	SO:0001630	splice_region_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111896846G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1228+1C>T	6.37:g.111896846G>A						TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Splice_Site_p.R401_splice|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Splice_Site_p.R410_splice|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	p.R401_splice	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	4	1679	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	410					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Splice_Site	SNP	ENST00000340026.6	37	c.1201_splice		.	.	.	.	.	.	.	.	.	.	G	20.4	3.977321	0.74360	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.35236	1.32;1.32;4.33	5.57	4.69	0.59074	SEFIR (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.36648	-0.9739	9	.	.	.	-9.0184	16.2596	0.82533	0.0:0.0:0.8664:0.1336	.	410;401;401	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	W	410;401;410;401	ENSP00000357750:R401W;ENSP00000345984:R410W;ENSP00000352889:R401W	.	R	-	1	2	TRAF3IP2	112003539	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	3.692000	0.54727	1.475000	0.48197	0.650000	0.86243	CGG		0.493	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2		Missense_Mutation	17	34	0	0	0	1	0	17	34				
SOAT2	8435	broad.mit.edu	37	12	53514641	53514641	+	Nonsense_Mutation	SNP	C	C	T	rs535557984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53514641C>T	ENST00000301466.3	+	11	1171	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	371					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	CGAGATGCTACGATTTGGAGA	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19619	0.0		0.0	False		,,,				2504	0.0					ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(1111-1113)Cga>Tga		sterol O-acyltransferase 2							180.0	145.0	157.0					12																	53514641		2203	4300	6503	SO:0001587	stop_gained	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53514641C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1111C>T	12.37:g.53514641C>T	ENSP00000301466:p.Arg371*						p.R371*	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			11	1171	+			371					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Nonsense_Mutation	SNP	ENST00000301466.3	37	c.1111C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	38	6.756102	0.97817	.	.	ENSG00000167780	ENST00000301466	.	.	.	5.53	5.53	0.82687	.	0.127063	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7256	18.6157	0.91302	0.0:1.0:0.0:0.0	.	.	.	.	X	371	.	ENSP00000301466:R371X	R	+	1	2	SOAT2	51800908	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.586000	0.67503	2.771000	0.95319	0.561000	0.74099	CGA		0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			41	55	0	0	0	1	0	41	55				
FAT3	120114	broad.mit.edu	37	11	92534270	92534270	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:92534270C>T	ENST00000298047.6	+	9	8108	c.8091C>T	c.(8089-8091)caC>caT	p.H2697H	FAT3_ENST00000409404.2_Silent_p.H2697H|FAT3_ENST00000525166.1_Silent_p.H2547H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2697	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H2697Q(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTATATCCACGTCTTGCCCC	0.458										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			4	Substitution - Missense(4)	p.H2697Q(4)	lung(4)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8089-8091)caC>caT		FAT atypical cadherin 3							69.0	66.0	67.0					11																	92534270		1951	4148	6099	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534270C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8091C>T	11.37:g.92534270C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.H2697H|FAT3_ENST00000525166.1_Silent_p.H2547H	p.H2697H			Q8TDW7	FAT3_HUMAN			9	8108	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2697			Cadherin 24.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8091C>T																																																																																					0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	20	0	0	0	1	0	10	20				
RRH	10692	broad.mit.edu	37	4	110758737	110758737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110758737G>A	ENST00000317735.4	+	5	730	c.696G>A	c.(694-696)tgG>tgA	p.W232*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	232					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ACAGAGACTGGTCAGATCAGA	0.423																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(694-696)tgG>tgA		retinal pigment epithelium-derived rhodopsin homolog							86.0	73.0	77.0					4																	110758737		2203	4300	6503	SO:0001587	stop_gained	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110758737G>A	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.696G>A	4.37:g.110758737G>A	ENSP00000314992:p.Trp232*						p.W232*	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	5	730	+		Hepatocellular(203;0.217)	232					A1A4V2|Q7RTS4	Nonsense_Mutation	SNP	ENST00000317735.4	37	c.696G>A	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	37	6.175478	0.97348	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000314992:W232X	W	+	3	0	RRH	110978186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.353000	0.97080	2.810000	0.96702	0.585000	0.79938	TGG		0.423	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	20	0	0	0	1	0	7	20				
PCCA	5095	broad.mit.edu	37	13	101077940	101077940	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:101077940G>A	ENST00000376285.1	+	20	1838	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	PCCA_ENST00000376279.3_Silent_p.S600S|PCCA_ENST00000376286.4_Silent_p.S574S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	600					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.S600S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACCTGGCTTCGCCCTTATTGT	0.473																																						ENST00000376285.1																			1	Substitution - coding silent(1)	p.S600S(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1798-1800)tcG>tcA		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						172.0	145.0	154.0					13																	101077940		2203	4300	6503	SO:0001819	synonymous_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:101077940G>A	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1800G>A	13.37:g.101077940G>A						PCCA_ENST00000376279.3_Silent_p.S600S|PCCA_ENST00000376286.4_Silent_p.S574S	p.S600S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			20	1838	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		600					B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.1800G>A	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	A	3.163	-0.171672	0.06421	.	.	ENSG00000175198	ENST00000536640;ENST00000458283;ENST00000413170	.	.	.	5.7	-3.02	0.05446	.	.	.	.	.	T	0.50803	0.1637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45702	-0.9243	4	.	.	.	.	7.4592	0.27285	0.5451:0.1129:0.342:0.0	.	.	.	.	T	96;53;44	.	.	A	+	1	0	PCCA	99875941	0.939000	0.31865	0.143000	0.22291	0.467000	0.32768	0.072000	0.14617	-0.566000	0.06054	-0.127000	0.14921	GCC		0.473	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			6	31	0	0	0	1	0	6	31				
NT5C2	22978	broad.mit.edu	37	10	104850752	104850752	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104850752G>A	ENST00000404739.3	-	15	1236	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	NT5C2_ENST00000423468.2_Splice_Site_p.H376Y|NT5C2_ENST00000343289.5_Splice_Site_p.H405Y|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	405					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTGTCAAGATGCCTAAAGATA	0.408																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.e16-1		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						78.0	79.0	78.0					10																	104850752		2203	4300	6503	SO:0001630	splice_region_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104850752G>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1212-1C>T	10.37:g.104850752G>A						NT5C2_ENST00000423468.2_Splice_Site_p.H376_splice|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Splice_Site_p.H405_splice	p.H405_splice	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	16	1300	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	405					B7Z382|D3DR91|Q5JUV5	Splice_Site	SNP	ENST00000404739.3	37	c.1211_splice	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527528	0.64860	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000421281	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	6.06	6.06	0.98353	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.65498	2.005	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.70716	0.946;0.97;0.946	T	0.25398	-1.0133	10	0.37606	T	0.19	-19.4642	20.6208	0.99490	0.0:0.0:1.0:0.0	.	376;252;405	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	Y	405;405;376;105	ENSP00000339479:H405Y;ENSP00000383960:H405Y;ENSP00000392236:H376Y;ENSP00000408112:H105Y	ENSP00000339479:H405Y	H	-	1	0	NT5C2	104840742	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.215000	0.72206	2.882000	0.98803	0.655000	0.94253	CAT		0.408	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	Missense_Mutation	6	38	0	0	0	1	0	6	38				
TLX2	3196	broad.mit.edu	37	2	74742790	74742790	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74742790G>A	ENST00000233638.7	+	2	754	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	144					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						GGGACGCGCCGCATAGGCCAC	0.667																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(430-432)cGc>cAc		T-cell leukemia homeobox 2							57.0	64.0	62.0					2																	74742790		2203	4300	6503	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742790G>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.431G>A	2.37:g.74742790G>A	ENSP00000233638:p.Arg144His						p.R144H	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	754	+			144					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.431G>A	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158878	0.94686	.	.	ENSG00000115297	ENST00000233638	D	0.95690	-3.78	4.29	4.29	0.51040	Homeodomain-like (1);	0.000000	0.52532	D	0.000078	D	0.97204	0.9086	M	0.79805	2.47	0.50813	D	0.99989	D	0.89917	1.0	D	0.83275	0.996	D	0.96193	0.9139	10	0.22706	T	0.39	.	14.3143	0.66437	0.0:0.0:1.0:0.0	.	144	O43763	TLX2_HUMAN	H	144	ENSP00000233638:R144H	ENSP00000233638:R144H	R	+	2	0	TLX2	74596298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.703000	0.84585	2.216000	0.71823	0.655000	0.94253	CGC		0.667	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			8	58	0	0	0	1	0	8	58				
TRIM49	57093	broad.mit.edu	37	11	89531657	89531657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:89531657G>A	ENST00000329758.1	-	8	1328	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	TRIM49_ENST00000532501.2_Nonsense_Mutation_p.Q257*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGAAAGTCTGAACACCCCAT	0.423																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1000-1002)Cag>Tag		tripartite motif containing 49							14.0	18.0	17.0					11																	89531657		2022	4196	6218	SO:0001587	stop_gained	57093					intracellular	zinc ion binding	g.chr11:89531657G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1000C>T	11.37:g.89531657G>A	ENSP00000327604:p.Gln334*					TRIM49_ENST00000532501.2_Nonsense_Mutation_p.Q257*	p.Q334*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1328	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	334			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Nonsense_Mutation	SNP	ENST00000329758.1	37	c.1000C>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485956	0.26686	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	.	.	.	0.812	-0.483	0.12075	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3455	0.11131	0.0:0.4327:0.5673:0.0	.	.	.	.	X	334;257	.	.	Q	-	1	0	TRIM49	89171305	.	.	0.002000	0.10522	0.014000	0.08584	.	.	-0.143000	0.11334	0.194000	0.17425	CAG		0.423	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		4	51	0	0	0	1	0	4	51				
STRN	6801	broad.mit.edu	37	2	37076751	37076751	+	Missense_Mutation	SNP	G	G	A	rs562258179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37076751G>A	ENST00000263918.4	-	18	2199	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	STRN_ENST00000379213.2_Missense_Mutation_p.R682C	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	731					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCCATAAACGTATTGAACAG	0.313																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(2191-2193)Cgt>Tgt		striatin, calmodulin binding protein							81.0	82.0	82.0					2																	37076751		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37076751G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2191C>T	2.37:g.37076751G>A	ENSP00000263918:p.Arg731Cys					STRN_ENST00000379213.2_Missense_Mutation_p.R682C	p.R731C	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN			18	2199	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	731					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.2191C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859775	0.71834	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.68025	-0.3;-0.3	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.047568	0.85682	D	0.000000	D	0.83631	0.5296	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86104	0.1558	10	0.87932	D	0	-10.8957	14.5287	0.67909	0.0:0.0:0.8535:0.1465	.	682;731	O43815-2;O43815	.;STRN_HUMAN	C	731;706;682	ENSP00000263918:R731C;ENSP00000368513:R682C	ENSP00000263918:R731C	R	-	1	0	STRN	36930255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.507000	0.73717	2.658000	0.90341	0.655000	0.94253	CGT		0.313	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			7	29	0	0	0	1	0	7	29				
PIK3R5	23533	broad.mit.edu	37	17	8792166	8792166	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:8792166T>C	ENST00000447110.1	-	10	1062	c.938A>G	c.(937-939)cAg>cGg	p.Q313R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q313R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q313R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	313				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GATCCCTGGCTGGAGTAGCTC	0.587																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(937-939)cAg>cGg		phosphoinositide-3-kinase, regulatory subunit 5							52.0	56.0	55.0					17																	8792166		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792166T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.938A>G	17.37:g.8792166T>C	ENSP00000392812:p.Gln313Arg					PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q313R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q313R	p.Q313R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1062	-			313	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.938A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596393	0.28445	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77229	-1.08	5.67	4.56	0.56223	.	0.360540	0.27595	N	0.018672	T	0.66684	0.2814	N	0.24115	0.695	0.23776	N	0.996879	B	0.24317	0.101	B	0.28916	0.096	T	0.60611	-0.7229	10	0.62326	D	0.03	-9.486	11.0704	0.47999	0.1392:0.0:0.0:0.8607	.	313	Q8WYR1	PI3R5_HUMAN	R	313	ENSP00000392812:Q313R	ENSP00000269300:Q313R	Q	-	2	0	PIK3R5	8732891	0.991000	0.36638	0.998000	0.56505	0.910000	0.53928	2.289000	0.43523	0.936000	0.37367	0.524000	0.50904	CAG		0.587	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		6	9	0	0	0	1	0	6	9				
CUL4A	8451	broad.mit.edu	37	13	113897425	113897425	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:113897425C>A	ENST00000375440.4	+	11	1263	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	CUL4A_ENST00000375441.3_Silent_p.S293S|CUL4A_ENST00000326335.4_Silent_p.S293S|CUL4A_ENST00000451881.1_Silent_p.S293S	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	393					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGAAGGAGTCCTTTGAGACGT	0.448																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(877-879)tcC>tcA		cullin 4A							144.0	121.0	129.0					13																	113897425		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113897425C>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1179C>A	13.37:g.113897425C>A						CUL4A_ENST00000375440.4_Silent_p.S393S|CUL4A_ENST00000375441.3_Silent_p.S293S|CUL4A_ENST00000326335.4_Silent_p.S293S	p.S293S	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		11	1128	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	393					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.879C>A	CCDS41908.1																																																																																				0.448	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		6	102	1	0	0.00116845	1	0.0011864	6	102				
TP53BP2	7159	broad.mit.edu	37	1	223991909	223991909	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:223991909C>T	ENST00000343537.7	-	6	907	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	TP53BP2_ENST00000391878.2_Missense_Mutation_p.V77M|TP53BP2_ENST00000498843.1_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	200					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCTGTTCCACGTGGCCTTTA	0.378																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(229-231)Gtg>Atg		tumor protein p53 binding protein, 2							219.0	226.0	223.0					1																	223991909		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223991909C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.616G>A	1.37:g.223991909C>T	ENSP00000341957:p.Val206Met					TP53BP2_ENST00000343537.7_Missense_Mutation_p.V206M	p.V77M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	7	997	-			200					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.229G>A	CCDS44319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471199|4.471199	0.84533|0.84533	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000494100|ENST00000391878;ENST00000343537	.|T;T	.|0.34072	.|1.38;1.38	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64148	.|0.2572	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.995	.|T	.|0.67565	.|-0.5638	.|10	.|0.87932	.|D	.|0	.|.	19.4318|19.4318	0.94772|0.94772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|206;200	.|B4DG66;Q13625	.|.;ASPP2_HUMAN	.|M	-1|77;206	.|ENSP00000375750:V77M;ENSP00000341957:V206M	.|ENSP00000341957:V206M	.|V	-|-	.|1	.|0	TP53BP2|TP53BP2	222058532|222058532	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.957000|0.957000	0.61999|0.61999	7.776000|7.776000	0.85560|0.85560	2.668000|2.668000	0.90789|0.90789	0.591000|0.591000	0.81541|0.81541	.|GTG		0.378	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		51	101	0	0	0	1	0	51	101				
PDGFC	56034	broad.mit.edu	37	4	157771538	157771538	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:157771538A>G	ENST00000502773.1	-	2	639	c.149T>C	c.(148-150)aTt>aCt	p.I50T	PDGFC_ENST00000422544.2_Missense_Mutation_p.I50T|PDGFC_ENST00000542208.1_5'Flank|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	50	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGACACAGTAATAATTCTCTC	0.343																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(148-150)aTt>aCt		platelet derived growth factor C							67.0	63.0	65.0					4																	157771538		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157771538A>G	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.149T>C	4.37:g.157771538A>G	ENSP00000422464:p.Ile50Thr					PDGFC_ENST00000422544.2_Missense_Mutation_p.I50T|PDGFC_ENST00000541126.1_Intron	p.I50T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	2	639	-	all_hematologic(180;0.24)	Renal(120;0.0458)	50			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.149T>C	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398275	0.62177	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.17054	2.37;2.3	5.94	5.94	0.96194	CUB (2);	0.209055	0.47852	D	0.000215	T	0.23965	0.0580	M	0.68593	2.085	0.80722	D	1	P	0.36354	0.549	B	0.37015	0.239	T	0.01839	-1.1263	10	0.72032	D	0.01	-15.1025	14.9689	0.71217	1.0:0.0:0.0:0.0	.	50	Q9NRA1	PDGFC_HUMAN	T	50	ENSP00000422464:I50T;ENSP00000410048:I50T	ENSP00000410048:I50T	I	-	2	0	PDGFC	157990988	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.707000	0.91367	2.279000	0.76181	0.459000	0.35465	ATT		0.343	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			16	32	0	0	0	1	0	16	32				
TUBB4A	10382	broad.mit.edu	37	19	6495417	6495417	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6495417C>T	ENST00000264071.2	-	4	1464	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A365T|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	365			A -> V (in dbSNP:rs1053267). {ECO:0000269|PubMed:6462917}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ATGAAGGTCGCGGCCATCTTC	0.617																																						ENST00000264071.2																			0											c.(1093-1095)Gcg>Acg		tubulin, beta 4A class IVa							176.0	154.0	161.0					19																	6495417		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495417C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1093G>A	19.37:g.6495417C>T	ENSP00000264071:p.Ala365Thr					TUBB4A_ENST00000540257.1_Missense_Mutation_p.A365T	p.A365T			P04350	TBB4_HUMAN			4	1464	-			365		A -> V (in dbSNP:rs1053267).			B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1093G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906499	0.52333	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85411	-1.98;-1.98	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000003	D	0.86151	0.5864	M	0.83953	2.67	0.51233	D	0.999916	B	0.33022	0.394	B	0.34779	0.189	D	0.87864	0.2666	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	365	P04350	TBB4A_HUMAN	T	365;365;283	ENSP00000264071:A365T;ENSP00000443590:A365T	ENSP00000264071:A365T	A	-	1	0	TUBB4	6446417	0.998000	0.40836	0.971000	0.41717	0.844000	0.47949	3.926000	0.56491	1.473000	0.48159	0.306000	0.20318	GCG		0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		52	92	0	0	0	1	0	52	92				
MFAP3	4238	broad.mit.edu	37	5	153433126	153433126	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:153433126T>C	ENST00000436816.1	+	3	1161	c.942T>C	c.(940-942)gtT>gtC	p.V314V	MFAP3_ENST00000439768.2_Silent_p.V168V|MFAP3_ENST00000322602.5_Silent_p.V314V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	314					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AAATAGCAGTTCAGGTTTCTG	0.448																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(940-942)gtT>gtC		microfibrillar-associated protein 3							95.0	99.0	98.0					5																	153433126		2203	4300	6503	SO:0001819	synonymous_variant	4238					integral to membrane|plasma membrane		g.chr5:153433126T>C		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.942T>C	5.37:g.153433126T>C						MFAP3_ENST00000322602.5_Silent_p.V314V|MFAP3_ENST00000439768.2_Silent_p.V168V	p.V314V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1161	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	314					B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	c.942T>C	CCDS4324.1																																																																																				0.448	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		8	53	0	0	0	1	0	8	53				
GNA13	10672	broad.mit.edu	37	17	63010442	63010442	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:63010442C>T	ENST00000439174.2	-	4	1312	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	GNA13_ENST00000541118.1_Missense_Mutation_p.R261H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	356					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GAAAACAAGGCGGATGTTCTC	0.443																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(1066-1068)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 13							136.0	104.0	115.0					17																	63010442		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010442C>T	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.1067G>A	17.37:g.63010442C>T	ENSP00000400717:p.Arg356His					GNA13_ENST00000541118.1_Missense_Mutation_p.R261H	p.R356H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	1312	-			356					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.1067G>A	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062138	0.76187	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.89681	-2.55;-2.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95597	0.8659	10	0.62326	D	0.03	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	356	Q14344	GNA13_HUMAN	H	356;261;331	ENSP00000400717:R356H;ENSP00000439647:R261H	ENSP00000239138:R331H	R	-	2	0	GNA13	60440904	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGC		0.443	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		33	30	0	0	0	1	0	33	30				
BAIAP2	10458	broad.mit.edu	37	17	79077815	79077815	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79077815T>C	ENST00000321300.6	+	9	1066	c.973T>C	c.(973-975)Tct>Cct	p.S325P	BAIAP2_ENST00000321280.7_Missense_Mutation_p.S325P|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S325P|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S247P|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S358P|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S325P|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S325P|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S188P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	325					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAAATCCCTGTCTCCTCCGCA	0.617																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(973-975)Tct>Cct		BAI1-associated protein 2							90.0	94.0	92.0					17																	79077815		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79077815T>C	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.973T>C	17.37:g.79077815T>C	ENSP00000316338:p.Ser325Pro					BAIAP2_ENST00000575245.1_Missense_Mutation_p.S358P|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S325P|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S188P|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S247P|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S325P|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S325P|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S325P	p.S325P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	1066	+	all_neural(118;0.101)		325					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.973T>C	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074001	0.76415	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.07	4.0	0.46444	.	0.339987	0.33477	N	0.004862	T	0.67998	0.2953	L	0.54323	1.7	0.51012	D	0.999902	D;D;D;D;D;D;D;D;D	0.71674	0.991;0.988;0.998;0.991;0.995;0.967;0.959;0.966;0.985	P;P;P;P;P;P;P;P;P	0.59221	0.764;0.775;0.854;0.764;0.83;0.663;0.628;0.735;0.809	T	0.64588	-0.6372	10	0.33940	T	0.23	-5.7239	10.5129	0.44872	0.0:0.0766:0.0:0.9234	.	188;247;326;325;325;325;325;325;325	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	P	325;325;325;325;247;188	ENSP00000316338:S325P;ENSP00000401022:S325P;ENSP00000413069:S325P;ENSP00000315685:S325P;ENSP00000376211:S247P;ENSP00000391837:S188P	ENSP00000315685:S325P	S	+	1	0	BAIAP2	76692410	0.012000	0.17670	0.474000	0.27266	0.978000	0.69477	0.567000	0.23608	0.792000	0.33850	0.379000	0.24179	TCT		0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			23	34	0	0	0	1	0	23	34				
NBPF1	55672	broad.mit.edu	37	1	16893673	16893673	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16893673C>T	ENST00000430580.2	-	25	3727		c.e25+1		NBPF1_ENST00000432949.1_Splice_Site|NBPF1_ENST00000420031.2_Splice_Site	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468																																						ENST00000430580.2																			0											c.e25+1		neuroblastoma breakpoint family, member 1							921.0	767.0	819.0					1																	16893673		2203	4300	6503	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16893673C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2839+1G>A	1.37:g.16893673C>T						NBPF1_ENST00000420031.2_Splice_Site|NBPF1_ENST00000432949.1_Splice_Site		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3727	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	50	2266	0	0	0	1	0	50	2266				
PCDH10	57575	broad.mit.edu	37	4	134073055	134073055	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:134073055G>A	ENST00000264360.5	+	1	2586	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCCAGCGCGTGAGGTGCTG	0.662																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1759-1761)cGt>cAt		protocadherin 10							21.0	25.0	24.0					4																	134073055		2105	4193	6298	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073055G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1760G>A	4.37:g.134073055G>A	ENSP00000264360:p.Arg587His						p.R587H	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2586	+			587			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1760G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950035	0.34377	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38887	1.11	4.5	4.5	0.54988	Cadherin-like (1);	0.000000	0.46145	D	0.000319	T	0.29061	0.0722	N	0.16368	0.405	0.38017	D	0.934719	D;P	0.56746	0.977;0.858	P;B	0.44732	0.459;0.091	T	0.16364	-1.0405	10	0.45353	T	0.12	.	10.6298	0.45530	0.0885:0.0:0.9115:0.0	.	587;587	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	587	ENSP00000264360:R587H	ENSP00000264360:R587H	R	+	2	0	PCDH10	134292505	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	0.291000	0.18994	2.325000	0.78763	0.655000	0.94253	CGT		0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		15	18	0	0	0	1	0	15	18				
USE1	55850	broad.mit.edu	37	19	17329200	17329200	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17329200C>T	ENST00000263897.5	+	6	469	c.422C>T	c.(421-423)aCt>aTt	p.T141I	USE1_ENST00000596136.1_Splice_Site_p.T141I|USE1_ENST00000595101.1_3'UTR|USE1_ENST00000379776.4_Splice_Site_p.T141I|USE1_ENST00000445667.2_Splice_Site_p.T141I	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	141					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582																																						ENST00000445667.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.e6+1		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							128.0	135.0	133.0					19																	17329200		2066	4198	6264	SO:0001630	splice_region_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17329200C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.422+1C>T	19.37:g.17329200C>T						USE1_ENST00000595101.1_3'UTR|USE1_ENST00000596136.1_Splice_Site_p.T141_splice|USE1_ENST00000379776.4_Splice_Site_p.T141_splice|USE1_ENST00000263897.5_Splice_Site_p.T141_splice	p.T141_splice			Q9NZ43	USE1_HUMAN			6	482	+			141					Q8NCK1|Q9BRT4	Splice_Site	SNP	ENST00000263897.5	37	c.422_splice	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455973	0.43634	.	.	ENSG00000053501	ENST00000263897;ENST00000445667;ENST00000379776	T;T	0.44083	0.93;0.93	2.58	-4.77	0.03219	.	0.656341	0.14815	N	0.296804	T	0.14013	0.0339	N	0.03608	-0.345	0.24989	N	0.991546	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.08351	-1.0726	10	0.37606	T	0.19	0.6364	4.2591	0.10732	0.0:0.3728:0.2683:0.3589	.	141;141	Q9NZ43-2;Q9NZ43	.;USE1_HUMAN	I	141	ENSP00000263897:T141I;ENSP00000390287:T141I	ENSP00000263897:T141I	T	+	2	0	USE1	17190200	0.176000	0.23096	0.898000	0.35279	0.558000	0.35554	-2.161000	0.01278	-0.948000	0.03668	0.313000	0.20887	ACT;ACT;ACA		0.582	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467	Missense_Mutation	12	14	0	0	0	1	0	12	14				
PDE10A	10846	broad.mit.edu	37	6	165749679	165749679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165749679C>T	ENST00000366882.1	-	22	2324	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	PDE10A_ENST00000539869.2_Missense_Mutation_p.A734T|PDE10A_ENST00000354448.4_Missense_Mutation_p.A724T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	724					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CAGGGAATGGCCACGGCATTG	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2170-2172)Gcc>Acc		phosphodiesterase 10A	Dipyridamole(DB00975)						83.0	78.0	79.0					6																	165749679		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749679C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2170G>A	6.37:g.165749679C>T	ENSP00000355847:p.Ala724Thr					PDE10A_ENST00000539869.2_Missense_Mutation_p.A734T|PDE10A_ENST00000354448.4_Missense_Mutation_p.A724T	p.A724T			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2324	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	724					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2170G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.674673	0.96764	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78364	-1.17;-1.17	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	M	0.69523	2.12	0.58432	D	0.999997	D;P	0.71674	0.998;0.75	D;B	0.81914	0.995;0.413	D	0.87069	0.2158	10	0.87932	D	0	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	734;724	Q9ULW9;Q9Y233	.;PDE10_HUMAN	T	724;752;734;724;723	ENSP00000355847:A724T;ENSP00000346435:A724T	ENSP00000341187:A734T	A	-	1	0	PDE10A	165669669	1.000000	0.71417	0.222000	0.23844	0.860000	0.49131	7.075000	0.76798	2.681000	0.91329	0.655000	0.94253	GCC		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	23	0	0	0	1	0	7	23				
KMT2C	58508	broad.mit.edu	37	7	151879308	151879308	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151879308C>T	ENST00000262189.6	-	36	5855	c.5637G>A	c.(5635-5637)ccG>ccA	p.P1879P	KMT2C_ENST00000355193.2_Silent_p.P1879P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1879	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAAACACTTGCGGTGAGGGTG	0.537																																						ENST00000355193.2																			0											c.(5635-5637)ccG>ccA		lysine (K)-specific methyltransferase 2C							83.0	86.0	85.0					7																	151879308		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151879308C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5637G>A	7.37:g.151879308C>T						KMT2C_ENST00000262189.6_Silent_p.P1879P	p.P1879P							36	5855	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5637G>A	CCDS5931.1																																																																																				0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	32	0	0	0	1	0	27	32				
HPSE	10855	broad.mit.edu	37	4	84240569	84240569	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84240569C>T	ENST00000405413.2	-	4	563	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	HPSE_ENST00000513463.1_Missense_Mutation_p.E143K|HPSE_ENST00000512196.1_Missense_Mutation_p.E143K|HPSE_ENST00000311412.5_Missense_Mutation_p.E143K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	143					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TAGGGCCATTCCAACCGTAAC	0.443																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(427-429)Gaa>Aaa		heparanase	Heparin(DB01109)						159.0	147.0	151.0					4																	84240569		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84240569C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.427G>A	4.37:g.84240569C>T	ENSP00000384262:p.Glu143Lys					HPSE_ENST00000512196.1_Missense_Mutation_p.E143K|HPSE_ENST00000311412.5_Missense_Mutation_p.E143K|HPSE_ENST00000513463.1_Missense_Mutation_p.E143K	p.E143K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	4	563	-		Hepatocellular(203;0.114)	143					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.427G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906258	0.52333	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.49432	0.82;0.82;0.78;1.53	5.14	5.14	0.70334	Glycoside hydrolase, superfamily (1);	0.249746	0.39687	N	0.001298	T	0.39517	0.1081	L	0.41710	1.295	0.39869	D	0.973489	P;B;P	0.51057	0.798;0.114;0.941	B;B;P	0.45343	0.3;0.203;0.477	T	0.16217	-1.0410	10	0.09084	T	0.74	-28.173	12.7943	0.57551	0.0:0.7101:0.2899:0.0	.	143;143;143	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	K	143	ENSP00000308107:E143K;ENSP00000384262:E143K;ENSP00000423265:E143K;ENSP00000421365:E143K	ENSP00000308107:E143K	E	-	1	0	HPSE	84459593	0.990000	0.36364	0.952000	0.39060	0.215000	0.24574	2.641000	0.46587	2.685000	0.91497	0.591000	0.81541	GAA		0.443	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		27	46	0	0	0	1	0	27	46				
PRR22	163154	broad.mit.edu	37	19	5784044	5784044	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:5784044C>T	ENST00000419421.2	-	3	318	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	72										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AAGAAGCACCCGCATGGGGCC	0.677																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(214-216)Ggg>Agg		proline rich 22							21.0	28.0	26.0					19																	5784044		2176	4275	6451	SO:0001583	missense	163154							g.chr19:5784044C>T	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.214G>A	19.37:g.5784044C>T	ENSP00000407653:p.Gly72Arg					CTB-54O9.9_ENST00000586012.1_3'UTR	p.G72R	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	318	-			70					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.214G>A	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659700	0.67586	.	.	ENSG00000212123	ENST00000419421	T	0.29142	1.58	4.58	4.58	0.56647	.	.	.	.	.	T	0.41903	0.1179	L	0.32530	0.975	0.35949	D	0.833742	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51156	-0.8741	9	0.72032	D	0.01	-13.4846	10.0052	0.41953	0.2018:0.7982:0.0:0.0	.	72;70	E9PB31;Q8IZ63	.;PRR22_HUMAN	R	72	ENSP00000407653:G72R	ENSP00000407653:G72R	G	-	1	0	PRR22	5735044	0.945000	0.32115	1.000000	0.80357	0.819000	0.46315	4.236000	0.58675	2.373000	0.80994	0.491000	0.48974	GGG		0.677	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		19	23	0	0	0	1	0	19	23				
TBC1D9B	23061	broad.mit.edu	37	5	179297355	179297355	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:179297355G>T	ENST00000356834.3	-	16	2662	c.2625C>A	c.(2623-2625)gcC>gcA	p.A875A	TBC1D9B_ENST00000355235.3_Silent_p.A875A|TBC1D9B_ENST00000519746.1_Silent_p.A51A|TBC1D9B_ENST00000444477.2_Silent_p.A33A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	875						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGCCACAGGCCCAGGGTG	0.612																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2623-2625)gcC>gcA		TBC1 domain family, member 9B (with GRAM domain)							98.0	101.0	100.0					5																	179297355		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297355G>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2625C>A	5.37:g.179297355G>T						TBC1D9B_ENST00000444477.2_Silent_p.A33A|TBC1D9B_ENST00000355235.3_Silent_p.A875A|TBC1D9B_ENST00000519746.1_Silent_p.A51A	p.A875A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2662	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	875					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2625C>A	CCDS43408.1																																																																																				0.612	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		25	64	1	0	2.79863e-10	1	2.98826e-10	25	64				
C6orf118	168090	broad.mit.edu	37	6	165711580	165711580	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165711580G>A	ENST00000230301.8	-	5	967	c.947C>T	c.(946-948)gCt>gTt	p.A316V	C6orf118_ENST00000543069.1_Missense_Mutation_p.A212V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	316										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGAGTTGAGCCAGAAGAGC	0.572																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(634-636)gCt>gTt		chromosome 6 open reading frame 118							53.0	47.0	49.0					6																	165711580		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165711580G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.947C>T	6.37:g.165711580G>A	ENSP00000230301:p.Ala316Val					C6orf118_ENST00000230301.8_Missense_Mutation_p.A316V	p.A212V			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	5	1216	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	316					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.635C>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766879	0.31320	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.12672	2.66;2.66	4.53	1.64	0.23874	.	0.473988	0.18894	N	0.128234	T	0.04724	0.0128	L	0.41824	1.3	0.09310	N	1	P	0.45531	0.86	P	0.44561	0.453	T	0.30707	-0.9969	10	0.39692	T	0.17	.	7.2428	0.26106	0.0:0.1678:0.4857:0.3465	.	316	Q5T5N4	CF118_HUMAN	V	316;212	ENSP00000230301:A316V;ENSP00000439288:A212V	ENSP00000230301:A316V	A	-	2	0	C6orf118	165631570	0.985000	0.35326	0.006000	0.13384	0.015000	0.08874	2.000000	0.40816	0.212000	0.20703	0.563000	0.77884	GCT		0.572	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		10	22	0	0	0	1	0	10	22				
ATAD2	29028	broad.mit.edu	37	8	124383983	124383983	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:124383983G>A	ENST00000287394.5	-	4	570	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	155					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAACTTCGACGCACTTCAACA	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(463-465)Cgt>Tgt		ATPase family, AAA domain containing 2							197.0	148.0	165.0					8																	124383983		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124383983G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.463C>T	8.37:g.124383983G>A	ENSP00000287394:p.Arg155Cys					ATAD2_ENST00000521903.1_5'UTR	p.R155C	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	570	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		155					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.463C>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922157	0.73213	.	.	ENSG00000156802	ENST00000287394	T	0.09163	3.01	4.86	4.86	0.63082	.	1.751020	0.02402	N	0.080817	T	0.42471	0.1204	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00893	-1.1524	10	0.87932	D	0	-6.9369	17.6023	0.88028	0.0:0.0:1.0:0.0	.	155	Q6PL18	ATAD2_HUMAN	C	155	ENSP00000287394:R155C	ENSP00000287394:R155C	R	-	1	0	ATAD2	124453164	1.000000	0.71417	0.990000	0.47175	0.599000	0.36880	5.741000	0.68638	2.231000	0.72958	0.561000	0.74099	CGT		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		11	24	0	0	0	1	0	11	24				
THADA	63892	broad.mit.edu	37	2	43801572	43801572	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43801572G>A	ENST00000405006.4	-	11	1983	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y	THADA_ENST00000403856.1_Silent_p.Y544Y|THADA_ENST00000415080.2_Silent_p.Y254Y|THADA_ENST00000404790.1_Silent_p.Y544Y|THADA_ENST00000330266.7_Silent_p.Y254Y|THADA_ENST00000405975.2_Silent_p.Y544Y|THADA_ENST00000402360.2_Silent_p.Y544Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	544										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATCAATCACGTAAGATTTTT	0.378																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1630-1632)taC>taT		thyroid adenoma associated							40.0	38.0	39.0					2																	43801572		1813	4079	5892	SO:0001819	synonymous_variant	63892						binding	g.chr2:43801572G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1632C>T	2.37:g.43801572G>A						THADA_ENST00000402360.2_Silent_p.Y544Y|THADA_ENST00000405006.4_Silent_p.Y544Y|THADA_ENST00000330266.7_Silent_p.Y254Y|THADA_ENST00000415080.2_Silent_p.Y254Y|THADA_ENST00000405975.2_Silent_p.Y544Y|THADA_ENST00000404790.1_Silent_p.Y544Y	p.Y544Y			Q6YHU6	THADA_HUMAN			12	1779	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	544					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.1632C>T	CCDS46268.1																																																																																				0.378	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	10	0	0	0	1	0	7	10				
ETF1	2107	broad.mit.edu	37	5	137848593	137848593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:137848593G>A	ENST00000360541.5	-	6	813	c.592C>T	c.(592-594)Cga>Tga	p.R198*	ETF1_ENST00000499810.2_Nonsense_Mutation_p.R165*|ETF1_ENST00000503014.1_Nonsense_Mutation_p.R184*	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	198					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGTTATGTCGCTTTTCCATT	0.433																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(493-495)Cga>Tga		eukaryotic translation termination factor 1							88.0	86.0	87.0					5																	137848593		2203	4300	6503	SO:0001587	stop_gained	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137848593G>A	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.592C>T	5.37:g.137848593G>A	ENSP00000353741:p.Arg198*					ETF1_ENST00000360541.5_Nonsense_Mutation_p.R198*|ETF1_ENST00000503014.1_Nonsense_Mutation_p.R184*	p.R165*			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	941	-			198					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Nonsense_Mutation	SNP	ENST00000360541.5	37	c.493C>T	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281809	0.95489	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.38	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.078	15.3389	0.74282	0.0:0.0:0.8596:0.1404	.	.	.	.	X	165;198;184	.	ENSP00000353741:R198X	R	-	1	2	ETF1	137876492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.241000	0.51376	1.239000	0.43787	0.655000	0.94253	CGA		0.433	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		34	28	0	0	0	1	0	34	28				
ITIH5	80760	broad.mit.edu	37	10	7618675	7618675	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7618675G>A	ENST00000256861.6	-	10	1797	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	ITIH5_ENST00000446830.2_Silent_p.I355I|ITIH5_ENST00000397145.2_Silent_p.I573I|ITIH5_ENST00000397146.2_Silent_p.I573I|ITIH5_ENST00000298441.6_Silent_p.I359I|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	573					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGAGACGCTCGATGTGGTTGG	0.622																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1717-1719)atC>atT		inter-alpha-trypsin inhibitor heavy chain family, member 5							49.0	49.0	49.0					10																	7618675		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618675G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1719C>T	10.37:g.7618675G>A						ITIH5_ENST00000446830.2_Silent_p.I355I|ITIH5_ENST00000397145.2_Silent_p.I573I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I573I|ITIH5_ENST00000298441.6_Silent_p.I359I	p.I573I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1797	-			573					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1719C>T																																																																																					0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	24	0	0	0	1	0	5	24				
JAK1	3716	broad.mit.edu	37	1	65303726	65303726	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:65303726A>G	ENST00000342505.4	-	22	3277	c.3029T>C	c.(3028-3030)cTt>cCt	p.L1010P		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1010	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTCTCAACAAGGACATTTCT	0.453			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3028-3030)cTt>cCt		Janus kinase 1							86.0	78.0	81.0					1																	65303726		1892	4113	6005	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303726A>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3029T>C	1.37:g.65303726A>G	ENSP00000343204:p.Leu1010Pro						p.L1010P	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3277	-			1010			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3029T>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537694	0.85917	.	.	ENSG00000162434	ENST00000342505	D	0.96554	-4.05	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.98476	0.9492	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99793	1.1032	9	0.87932	D	0	-4.285	15.2931	0.73882	1.0:0.0:0.0:0.0	.	1010	P23458	JAK1_HUMAN	P	1010	ENSP00000343204:L1010P	ENSP00000343204:L1010P	L	-	2	0	JAK1	65076314	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	8.703000	0.91344	2.182000	0.69389	0.528000	0.53228	CTT		0.453	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		16	18	0	0	0	1	0	16	18				
CD93	22918	broad.mit.edu	37	20	23065690	23065690	+	Missense_Mutation	SNP	C	C	A	rs541179008		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:23065690C>A	ENST00000246006.4	-	1	1287	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	380	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACAGGCCCCCTCTCCAGGAC	0.632																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1138-1140)gaG>gaT		CD93 molecule							49.0	49.0	49.0					20																	23065690		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065690C>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1140G>T	20.37:g.23065690C>A	ENSP00000246006:p.Glu380Asp						p.E380D	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1287	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		380			EGF-like 3; calcium-binding (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1140G>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	0.406	-0.915900	0.02415	.	.	ENSG00000125810	ENST00000246006	T	0.26810	1.71	5.42	-10.8	0.00216	EGF-like calcium-binding (1);	0.972048	0.08442	N	0.945335	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17899	-1.0354	10	0.16896	T	0.51	-9.1534	1.3591	0.02188	0.2346:0.124:0.2136:0.4277	.	380	Q9NPY3	C1QR1_HUMAN	D	380	ENSP00000246006:E380D	ENSP00000246006:E380D	E	-	3	2	CD93	23013690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.313000	0.08103	-1.778000	0.01282	-0.873000	0.02984	GAG		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		12	18	1	0	9.31168e-06	1	9.64599e-06	12	18				
IGSF3	3321	broad.mit.edu	37	1	117156481	117156481	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:117156481G>A	ENST00000369486.3	-	4	1503	c.738C>T	c.(736-738)tgC>tgT	p.C246C	IGSF3_ENST00000369483.1_Silent_p.C246C|IGSF3_ENST00000318837.6_Silent_p.C246C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	246	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGCGGCCTCGCAGTAGAATT	0.632																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(736-738)tgC>tgT		immunoglobulin superfamily, member 3							41.0	38.0	39.0					1																	117156481		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117156481G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.738C>T	1.37:g.117156481G>A						IGSF3_ENST00000369483.1_Silent_p.C246C|IGSF3_ENST00000318837.6_Silent_p.C246C	p.C246C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	4	1503	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	246			Ig-like C2-type 2.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.738C>T	CCDS30813.1																																																																																				0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		10	13	0	0	0	1	0	10	13				
ZMIZ2	83637	broad.mit.edu	37	7	44796659	44796659	+	Silent	SNP	G	G	A	rs200981133		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44796659G>A	ENST00000309315.4	+	4	402	c.279G>A	c.(277-279)gcG>gcA	p.A93A	ZMIZ2_ENST00000441627.1_Silent_p.A93A|ZMIZ2_ENST00000265346.7_Silent_p.A93A|ZMIZ2_ENST00000433667.1_Silent_p.A61A|ZMIZ2_ENST00000413916.1_Silent_p.A61A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	93	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A93A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGCAGGCGTTTGCTGAAG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		16642	0.0		0.001	False		,,,				2504	0.0				NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			1	Substitution - coding silent(1)	p.A93A(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(277-279)gcG>gcA		zinc finger, MIZ-type containing 2		G	,	0,4032		0,0,2016	40.0	45.0	44.0		279,279	-9.8	0.1	7		44	1,8313		0,1,4156	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,6172	AA,AG,GG		0.012,0.0,0.0081	,	93/921,93/895	44796659	1,12345	2016	4157	6173	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44796659G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.279G>A	7.37:g.44796659G>A						ZMIZ2_ENST00000433667.1_Silent_p.A61A|ZMIZ2_ENST00000441627.1_Silent_p.A93A|ZMIZ2_ENST00000413916.1_Silent_p.A61A|ZMIZ2_ENST00000265346.7_Silent_p.A93A	p.A93A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			4	402	+			93			Gly-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.279G>A	CCDS43576.1																																																																																				0.677	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		6	35	0	0	0	1	0	6	35				
AKAP13	11214	broad.mit.edu	37	15	86266404	86266404	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86266404C>T	ENST00000394518.2	+	26	6693	c.6598C>T	c.(6598-6600)Cgt>Tgt	p.R2200C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R445C|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2204C|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2200	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAGAAAGTGCGTCTCAATGA	0.428																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6598-6600)Cgt>Tgt		A kinase (PRKA) anchor protein 13							155.0	133.0	141.0					15																	86266404		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86266404C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6598C>T	15.37:g.86266404C>T	ENSP00000378026:p.Arg2200Cys					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2204C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R445C|AKAP13_ENST00000560579.1_3'UTR	p.R2200C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			26	6693	+			2200			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6598C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059882	0.76074	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.70399	-0.48;-0.48;-0.48	5.83	4.86	0.63082	Dbl homology (DH) domain (2);	.	.	.	.	D	0.84597	0.5507	M	0.83774	2.66	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.86499	0.1802	9	0.87932	D	0	.	14.8374	0.70194	0.1442:0.8558:0.0:0.0	.	2180;2200;2204	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	C	280;2204;2200;2203;2179;445	ENSP00000354718:R2204C;ENSP00000378026:R2200C;ENSP00000378018:R445C	ENSP00000354718:R2204C	R	+	1	0	AKAP13	84067408	0.921000	0.31238	0.971000	0.41717	0.997000	0.91878	1.884000	0.39668	2.749000	0.94314	0.655000	0.94253	CGT		0.428	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		15	24	0	0	0	1	0	15	24				
L3MBTL3	84456	broad.mit.edu	37	6	130376384	130376384	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130376384G>A	ENST00000529410.1	+	10	1130	c.651G>A	c.(649-651)tcG>tcA	p.S217S	L3MBTL3_ENST00000526019.1_Silent_p.S192S|L3MBTL3_ENST00000361794.2_Silent_p.S217S|L3MBTL3_ENST00000533560.1_Silent_p.S192S|L3MBTL3_ENST00000368139.2_Silent_p.S192S|L3MBTL3_ENST00000368136.2_Silent_p.S217S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	217					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S217S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAGGGGATTCGGCTGTACTAA	0.393																																						ENST00000529410.1																			1	Substitution - coding silent(1)	p.S217S(1)	ovary(1)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(649-651)tcG>tcA		l(3)mbt-like 3 (Drosophila)							108.0	114.0	112.0					6																	130376384		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130376384G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.651G>A	6.37:g.130376384G>A						L3MBTL3_ENST00000368139.2_Silent_p.S192S|L3MBTL3_ENST00000368136.2_Silent_p.S217S|L3MBTL3_ENST00000361794.2_Silent_p.S217S|L3MBTL3_ENST00000533560.1_Silent_p.S192S|L3MBTL3_ENST00000526019.1_Silent_p.S192S	p.S217S			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	10	1130	+			217					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.651G>A	CCDS34537.1																																																																																				0.393	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		11	8	0	0	0	1	0	11	8				
VNN2	8875	broad.mit.edu	37	6	133078827	133078827	+	Missense_Mutation	SNP	T	T	C	rs367909602		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:133078827T>C	ENST00000326499.6	-	1	320	c.196A>G	c.(196-198)Aag>Gag	p.K66E	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.K13E|VNN2_ENST00000525289.1_Missense_Mutation_p.K66E	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	66	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GCTGCCTGCTTGATCGCTGTC	0.438																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(196-198)Aag>Gag		vanin 2			GLU/LYS,GLU/LYS,GLU/LYS	0,4406		0,0,2203	121.0	117.0	118.0		196,196,37	3.0	0.0	6		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	56,56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	66/300,66/521,13/468	133078827	1,13005	2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078827T>C	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.196A>G	6.37:g.133078827T>C	ENSP00000322276:p.Lys66Glu					VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.K66E|VNN2_ENST00000525270.1_Missense_Mutation_p.K13E	p.K66E	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	320	-			66			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.196A>G	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	t	2.042	-0.419751	0.04734	0.0	1.16E-4	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536;ENST00000532012	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.59	2.96	0.34315	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.430123	0.23296	N	0.049739	T	0.69700	0.3140	L	0.32530	0.975	0.09310	N	1	P;B	0.49559	0.925;0.364	P;B	0.44561	0.453;0.188	T	0.67929	-0.5543	10	0.06494	T	0.89	-3.9798	12.7448	0.57276	0.0:0.0:0.2556:0.7443	.	66;66	O95498-2;O95498	.;VNN2_HUMAN	E	66;13;66;66;13;66	ENSP00000322276:K66E;ENSP00000436822:K13E;ENSP00000436935:K66E;ENSP00000431451:K66E;ENSP00000434210:K13E;ENSP00000431680:K66E	ENSP00000322276:K66E	K	-	1	0	VNN2	133120520	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	0.973000	0.29422	1.008000	0.39264	0.492000	0.49549	AAG		0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			34	48	0	0	0	1	0	34	48				
RUNX1T1	862	broad.mit.edu	37	8	93017486	93017486	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:93017486C>T	ENST00000523629.1	-	6	1052	c.598G>A	c.(598-600)Gca>Aca	p.A200T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A200T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A211T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A163T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	200	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A211S(1)|p.A200S(1)|p.A163S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCAGTCTTGCGCAGTGGAGG	0.562																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.A211S(1)|p.A200S(1)|p.A163S(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(598-600)Gca>Aca		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							137.0	108.0	118.0					8																	93017486		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017486C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.598G>A	8.37:g.93017486C>T	ENSP00000428543:p.Ala200Thr					RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A211T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A200T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A173T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A163T|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.A163T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A173T	p.A200T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1052	-			200			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.598G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616983	0.96649	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.67	5.67	0.87782	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.979;0.995;0.999	P;D;D	0.68943	0.762;0.932;0.961	T	0.68887	-0.5290	10	0.87932	D	0	-12.2585	19.7501	0.96265	0.0:1.0:0.0:0.0	.	211;200;173	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	T	200;173;200;163;163;163;211;173;163;200;163	ENSP00000428543:A200T;ENSP00000379520:A173T;ENSP00000265814:A200T;ENSP00000353504:A163T;ENSP00000390137:A163T;ENSP00000428742:A163T;ENSP00000402257:A211T;ENSP00000430728:A173T;ENSP00000429728:A163T;ENSP00000431094:A200T;ENSP00000427763:A163T	ENSP00000265814:A200T	A	-	1	0	RUNX1T1	93086662	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.818000	0.86416	2.672000	0.90937	0.655000	0.94253	GCA		0.562	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		14	19	0	0	0	1	0	14	19				
CNNM4	26504	broad.mit.edu	37	2	97463370	97463370	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97463370G>A	ENST00000377075.2	+	3	1765	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.R43H|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	556					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCCGCTCATCGCTTCCTAGCC	0.572																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1666-1668)cGc>cAc		cyclin M4							43.0	39.0	40.0					2																	97463370		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97463370G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1667G>A	2.37:g.97463370G>A	ENSP00000366275:p.Arg556His					CNNM4_ENST00000540067.1_Missense_Mutation_p.R43H|CNNM4_ENST00000496186.1_3'UTR	p.R556H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			3	1765	+			556					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1667G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466457	0.63625	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.76060	-0.99	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.80183	2.485	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88238	0.2908	10	0.87932	D	0	-0.9863	14.688	0.69062	0.0:0.1466:0.8533:0.0	.	43;556	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	H	556;43	ENSP00000366275:R556H	ENSP00000366275:R556H	R	+	2	0	CNNM4	96827097	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	9.758000	0.98927	1.274000	0.44362	0.655000	0.94253	CGC		0.572	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	18	0	0	0	1	0	9	18				
ATP1A2	477	broad.mit.edu	37	1	160098444	160098444	+	Silent	SNP	G	G	A	rs142140032		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160098444G>A	ENST00000361216.3	+	9	1109	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	ATP1A2_ENST00000392233.3_Silent_p.V340V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	340					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTACCAGGTGTGCCTGACCC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1018-1020)gtG>gtA		ATPase, Na+/K+ transporting, alpha 2 polypeptide		G		0,4406		0,0,2203	75.0	70.0	72.0		1020	4.8	1.0	1	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1A2	NM_000702.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		340/1021	160098444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098444G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1020G>A	1.37:g.160098444G>A						ATP1A2_ENST00000392233.3_Silent_p.V340V|ATP1A2_ENST00000472488.1_3'UTR	p.V340V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1109	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		340					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1020G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101506	0.37048	0.0	1.16E-4	ENSG00000018625	ENST00000447527	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	13.3947	0.60843	0.0:0.1591:0.8409:0.0	.	.	.	.	Y	51	.	.	C	+	2	0	ATP1A2	158365068	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.336000	0.33850	2.359000	0.80004	0.561000	0.74099	TGT		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	51	0	0	0	1	0	10	51				
DNAH1	25981	broad.mit.edu	37	3	52428607	52428607	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52428607T>C	ENST00000420323.2	+	67	11014	c.10753T>C	c.(10753-10755)Tcc>Ccc	p.S3585P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3650					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACCTTTTCCTCCTTCTCTTC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10753-10755)Tcc>Ccc		dynein, axonemal, heavy chain 1							107.0	113.0	111.0					3																	52428607		2007	4178	6185	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52428607T>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10753T>C	3.37:g.52428607T>C	ENSP00000401514:p.Ser3585Pro						p.S3585P	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	67	11014	+			3650					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10753T>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948609	0.34377	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.09073	3.02	5.15	-7.19	0.01500	.	1.007470	0.07977	N	0.984900	T	0.07369	0.0186	L	0.43646	1.37	0.09310	N	1	B;B	0.30634	0.288;0.256	B;B	0.33620	0.167;0.099	T	0.45789	-0.9237	10	0.72032	D	0.01	.	8.0302	0.30461	0.3138:0.0:0.3978:0.2885	.	3585;3650	C9JXH6;Q9P2D7-2	.;.	P	3585;338	ENSP00000401514:S3585P	ENSP00000273600:S338P	S	+	1	0	DNAH1	52403647	0.000000	0.05858	0.006000	0.13384	0.499000	0.33736	-0.715000	0.04997	-0.679000	0.05217	0.533000	0.62120	TCC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	34	0	0	0	1	0	6	34				
ANKRD26	22852	broad.mit.edu	37	10	27349345	27349345	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27349345G>T	ENST00000376087.4	-	15	1658	c.1493C>A	c.(1492-1494)cCt>cAt	p.P498H	ANKRD26_ENST00000436985.2_Splice_Site_p.P514H	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	498					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCAATGGTAGGCTGAATGGG	0.269																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.e15-1		ankyrin repeat domain 26							95.0	92.0	93.0					10																	27349345		1796	4065	5861	SO:0001630	splice_region_variant	22852					centrosome		g.chr10:27349345G>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1492-1C>A	10.37:g.27349345G>T						ANKRD26_ENST00000436985.2_Splice_Site_p.P514_splice	p.P498_splice	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			15	1658	-			498					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	ENST00000376087.4	37	c.1491_splice	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859786	0.51376	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.45276	1.21;0.9	4.89	4.89	0.63831	.	0.468978	0.15301	U	0.269618	T	0.63733	0.2536	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.973;0.94;0.997	T	0.65298	-0.6202	10	0.72032	D	0.01	.	13.5535	0.61747	0.0:0.0:1.0:0.0	.	498;498;514	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	H	498;514	ENSP00000365255:P498H;ENSP00000405112:P514H	ENSP00000365255:P498H	P	-	2	0	ANKRD26	27389351	0.003000	0.15002	0.263000	0.24496	0.795000	0.44927	1.346000	0.33964	2.257000	0.74773	0.313000	0.20887	CCT		0.269	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		Missense_Mutation	39	83	1	0	1.49673e-21	1	1.66298e-21	39	83				
PLEKHM1	9842	broad.mit.edu	37	17	43531226	43531226	+	Silent	SNP	G	G	A	rs369056286		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:43531226G>A	ENST00000430334.3	-	7	2125	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	PLEKHM1_ENST00000421073.2_Silent_p.P575P|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	664					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGAGGGCCGCGGGCTCCGAGA	0.637																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1990-1992)ccC>ccT		pleckstrin homology domain containing, family M (with RUN domain) member 1							38.0	44.0	42.0					17																	43531226		2202	4298	6500	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531226G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1992C>T	17.37:g.43531226G>A						AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.P575P	p.P664P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	2125	-	Renal(3;0.0405)		664					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1992C>T	CCDS32671.1																																																																																				0.637	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		9	39	0	0	0	1	0	9	39				
TMEM25	84866	broad.mit.edu	37	11	118403905	118403905	+	Missense_Mutation	SNP	C	C	T	rs140899282		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118403905C>T	ENST00000313236.5	+	4	709	c.656C>T	c.(655-657)gCg>gTg	p.A219V	RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000442938.2_Missense_Mutation_p.A219V|TMEM25_ENST00000533102.1_Missense_Mutation_p.A219V|TMEM25_ENST00000354064.7_Missense_Mutation_p.A115V|TMEM25_ENST00000411589.2_Missense_Mutation_p.A219V|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000524725.1_Missense_Mutation_p.A219V|TMEM25_ENST00000544878.1_Intron|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000359862.4_Missense_Mutation_p.A219V|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.A219V	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	219						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCACCAGTGCGTCGCTTCCA	0.617																																						ENST00000524725.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(655-657)gCg>gTg		transmembrane protein 25		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4400		0,0,2200	34.0	28.0	30.0		656,656,344,656,656,656	5.9	1.0	11	dbSNP_134	30	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense,missense,missense,missense	TMEM25	NM_001144034.1,NM_001144035.1,NM_001144036.1,NM_001144037.1,NM_001144038.1,NM_032780.3	64,64,64,64,64,64	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	219/323,219/323,115/219,219/352,219/307,219/367	118403905	1,12987	2200	4294	6494	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403905C>T	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.656C>T	11.37:g.118403905C>T	ENSP00000315635:p.Ala219Val					TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A219V|TMEM25_ENST00000533102.1_Missense_Mutation_p.A219V|TMEM25_ENST00000411589.2_Missense_Mutation_p.A219V|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000313236.5_Missense_Mutation_p.A219V|TMEM25_ENST00000359862.4_Missense_Mutation_p.A219V|TMEM25_ENST00000354064.7_Missense_Mutation_p.A115V|TMEM25_ENST00000354284.4_Missense_Mutation_p.A219V	p.A219V			Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	1068	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	219					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.656C>T	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.399978|5.399978	0.96030|0.96030	0.0|0.0	1.16E-4|1.16E-4	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000354284;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T;T;T;T;T;T;T;T|.	0.34859|.	2.04;2.0;2.04;1.99;1.34;1.94;2.02;2.04|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Immunoglobulin-like fold (1);|.	0.238464|.	0.45606|.	D|.	0.000359|.	T|T	0.37237|0.37237	0.0996|0.0996	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	P;P;P;P;D;D;P;P|.	0.60160|.	0.822;0.567;0.826;0.891;0.987;0.984;0.891;0.693|.	B;B;B;B;P;P;B;B|.	0.50352|.	0.245;0.116;0.238;0.418;0.638;0.526;0.232;0.232|.	T|T	0.32241|0.32241	-0.9914|-0.9914	10|5	0.30078|.	T|.	0.28|.	-22.391|-22.391	17.5644|17.5644	0.87916|0.87916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	219;219;219;219;219;219;115;219|.	Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	TMM25_HUMAN;.;.;.;.;.;.;.|.	V|C	219;219;219;219;115;219;219;219|103	ENSP00000411882:A219V;ENSP00000416071:A219V;ENSP00000352924:A219V;ENSP00000346237:A219V;ENSP00000278959:A115V;ENSP00000431548:A219V;ENSP00000315635:A219V;ENSP00000431205:A219V|.	ENSP00000315635:A219V|.	A|R	+|+	2|1	0|0	TMEM25|TMEM25	117909115|117909115	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.950000|0.950000	0.60333|0.60333	6.041000|6.041000	0.70988|0.70988	2.833000|2.833000	0.97629|0.97629	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.617	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		3	12	0	0	0	1	0	3	12				
KCNJ4	3761	broad.mit.edu	37	22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(529-531)cGg>cAg		potassium inwardly-rectifying channel, subfamily J, member 4							44.0	42.0	43.0					22																	38823608		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823608C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.530G>A	22.37:g.38823608C>T	ENSP00000306497:p.Arg177Gln						p.R177Q	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	788	-	Melanoma(58;0.0286)		177					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.530G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692612	0.48202	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.60904	1.88	0.50813	D	0.999896	D	0.63046	0.992	P	0.51324	0.666	D	0.90886	0.4757	10	0.08179	T	0.78	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	177	P48050	IRK4_HUMAN	Q	177	ENSP00000306497:R177Q	ENSP00000306497:R177Q	R	-	2	0	KCNJ4	37153554	1.000000	0.71417	0.888000	0.34837	0.770000	0.43624	6.060000	0.71141	2.472000	0.83506	0.555000	0.69702	CGG		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		11	18	0	0	0	1	0	11	18				
RARS2	57038	broad.mit.edu	37	6	88240652	88240652	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:88240652T>C	ENST00000369536.5	-	9	666	c.621A>G	c.(619-621)gtA>gtG	p.V207V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	207					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TATTAACTTGTACATAAACCT	0.363																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(619-621)gtA>gtG		arginyl-tRNA synthetase 2, mitochondrial							119.0	116.0	117.0					6																	88240652		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240652T>C	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.621A>G	6.37:g.88240652T>C							p.V207V	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	666	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	207					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.621A>G	CCDS5011.1																																																																																				0.363	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		4	44	0	0	0	1	0	4	44				
ZBTB20	26137	broad.mit.edu	37	3	114069597	114069597	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:114069597C>A	ENST00000474710.1	-	4	1506	c.1328G>T	c.(1327-1329)aGc>aTc	p.S443I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S370I|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S370I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S370I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S370I|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	443						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATAACAGTGCTGTCCATCTC	0.567																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1108-1110)aGc>aTc		zinc finger and BTB domain containing 20							97.0	84.0	88.0					3																	114069597		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069597C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1328G>T	3.37:g.114069597C>A	ENSP00000419153:p.Ser443Ile					ZBTB20_ENST00000357258.3_Missense_Mutation_p.S370I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S370I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S443I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S370I	p.S370I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1930	-			443					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1109G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614464	0.28712	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10477	2.89;2.89;2.89;2.89;2.87;2.89;2.89	5.41	-5.21	0.02815	.	0.463660	0.26411	N	0.024525	T	0.06826	0.0174	L	0.27053	0.805	0.27749	N	0.944235	B	0.28512	0.214	B	0.25884	0.064	T	0.08186	-1.0734	10	0.29301	T	0.29	.	16.6833	0.85298	0.0:0.7917:0.0:0.2083	.	443	Q9HC78	ZBT20_HUMAN	I	370;370;370;370;443;370;370	ENSP00000420324:S370I;ENSP00000377375:S370I;ENSP00000418092:S370I;ENSP00000419902:S370I;ENSP00000419153:S443I;ENSP00000349803:S370I;ENSP00000417307:S370I	ENSP00000349803:S370I	S	-	2	0	ZBTB20	115552287	0.991000	0.36638	0.952000	0.39060	0.340000	0.28889	0.245000	0.18142	-0.860000	0.04099	-2.253000	0.00282	AGC		0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		31	57	1	0	5.77227e-19	1	6.37883e-19	31	57				
DNAJC13	23317	broad.mit.edu	37	3	132207163	132207163	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:132207163A>G	ENST00000260818.6	+	30	3537	c.3289A>G	c.(3289-3291)Atc>Gtc	p.I1097V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1097				I -> T (in Ref. 6; BAC86133). {ECO:0000305}.	osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTTGACCCTATCCTTGTTGA	0.338																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3289-3291)Atc>Gtc		DnaJ (Hsp40) homolog, subfamily C, member 13							91.0	84.0	86.0					3																	132207163		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207163A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3289A>G	3.37:g.132207163A>G	ENSP00000260818:p.Ile1097Val						p.I1097V	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			30	3537	+			1097	I -> T (in Ref. 6; BAC86133).				Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3289A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592935	0.46214	.	.	ENSG00000138246	ENST00000260818	T	0.47177	0.85	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.058921	0.64402	D	0.000004	T	0.36026	0.0952	N	0.21373	0.66	0.58432	D	0.999992	B	0.18610	0.029	B	0.11329	0.006	T	0.10109	-1.0644	10	0.29301	T	0.29	.	16.0634	0.80856	1.0:0.0:0.0:0.0	.	1097	O75165	DJC13_HUMAN	V	1097	ENSP00000260818:I1097V	ENSP00000260818:I1097V	I	+	1	0	DNAJC13	133689853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.875000	0.92372	2.202000	0.70862	0.528000	0.53228	ATC		0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		18	40	0	0	0	1	0	18	40				
API5	8539	broad.mit.edu	37	11	43357418	43357418	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:43357418G>T	ENST00000531273.1	+	13	1505	c.1366G>T	c.(1366-1368)Gcc>Tcc	p.A456S	API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Missense_Mutation_p.A456S|API5_ENST00000378852.3_Missense_Mutation_p.A456S|API5_ENST00000455725.2_Missense_Mutation_p.A445S|API5_ENST00000420461.2_Missense_Mutation_p.A402S|API5_ENST00000529334.1_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	456					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GCAAAAGAGAGCCAGTGAAGA	0.373																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1366-1368)Gcc>Tcc		apoptosis inhibitor 5							62.0	61.0	61.0					11																	43357418		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43357418G>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1366G>T	11.37:g.43357418G>T	ENSP00000431391:p.Ala456Ser					API5_ENST00000534600.1_Missense_Mutation_p.A456S|API5_ENST00000420461.2_Missense_Mutation_p.A402S|API5_ENST00000534695.1_Intron|API5_ENST00000529334.1_3'UTR|API5_ENST00000455725.2_Missense_Mutation_p.A445S|API5_ENST00000531273.1_Missense_Mutation_p.A456S|RP11-484D2.2_ENST00000526220.1_RNA	p.A456S	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			13	1491	+			456					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1366G>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835832	0.16820	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	5.16	2.18	0.27775	Armadillo-type fold (1);	0.332965	0.36338	N	0.002650	T	0.07324	0.0185	N	0.17082	0.46	0.28353	N	0.920817	B;B;B;B;B	0.22604	0.005;0.021;0.072;0.007;0.007	B;B;B;B;B	0.26202	0.025;0.015;0.067;0.009;0.014	T	0.37934	-0.9684	10	0.09084	T	0.74	-12.4931	9.6888	0.40116	0.3694:0.0:0.6306:0.0	.	402;456;445;456;456	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	S	445;456;402;456;456;271	ENSP00000399341:A445S;ENSP00000431391:A456S;ENSP00000402540:A402S;ENSP00000368129:A456S;ENSP00000434462:A456S;ENSP00000436436:A271S	ENSP00000368129:A456S	A	+	1	0	API5	43313994	0.594000	0.26849	0.999000	0.59377	0.952000	0.60782	-0.028000	0.12350	0.651000	0.30788	-0.145000	0.13849	GCC		0.373	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		29	28	1	0	7.26314e-15	1	7.9373e-15	29	28				
SZT2	23334	broad.mit.edu	37	1	43906208	43906208	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43906208C>A	ENST00000562955.1	+	51	7124	c.7124C>A	c.(7123-7125)cCt>cAt	p.P2375H	SZT2_ENST00000372442.1_Missense_Mutation_p.P1533H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2432					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGGGGAGCCTGTGACTCCA	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7123-7125)cCt>cAt		seizure threshold 2 homolog (mouse)							85.0	82.0	83.0					1																	43906208		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906208C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7124C>A	1.37:g.43906208C>A	ENSP00000457168:p.Pro2375His					SZT2_ENST00000372442.1_Missense_Mutation_p.P1533H	p.P2375H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			51	7124	+			2432					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7124C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906728	0.72868	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.13	5.13	0.70059	.	0.057798	0.64402	D	0.000001	T	0.63022	0.2476	L	0.29908	0.895	0.31865	N	0.620509	D	0.89917	1.0	D	0.76575	0.988	T	0.65940	-0.6046	9	0.46703	T	0.11	.	18.7731	0.91900	0.0:1.0:0.0:0.0	.	2375	Q5T011-5	.	H	1533	.	ENSP00000361519:P1533H	P	+	2	0	SZT2	43678795	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.731000	0.62022	2.675000	0.91044	0.655000	0.94253	CCT		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		25	30	1	0	2.21704e-12	1	2.3975e-12	25	30				
SYNE1	23345	broad.mit.edu	37	6	152477120	152477120	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152477120G>T	ENST00000367255.5	-	132	24504	c.23903C>A	c.(23902-23904)tCt>tAt	p.S7968Y	SYNE1_ENST00000356820.4_Missense_Mutation_p.S2492Y|SYNE1_ENST00000539504.1_Missense_Mutation_p.S123Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7968Y|SYNE1_ENST00000354674.4_Missense_Mutation_p.S123Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7580Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7897Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7968					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGTATAGAGTCACACTC	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(23902-23904)tCt>tAt		spectrin repeat containing, nuclear envelope 1							135.0	124.0	128.0					6																	152477120		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.chr6:152477120G>T	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.23903C>A	6.37:g.152477120G>T	ENSP00000356224:p.Ser7968Tyr	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.S123Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.S123Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2492Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7580Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7897Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7968Y	p.S7968Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	132	24504	-		Ovarian(120;0.0955)	7968					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.23903C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.116008	0.94339	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	D	0.90103	0.6908	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.90333	0.4353	10	0.87932	D	0	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	7968;7968;7897;7897;170	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Y	7968;123;614;7897;7968;7897;7580;2492;130;125;890;123	ENSP00000356224:S7968Y;ENSP00000441052:S123Y;ENSP00000356226:S614Y;ENSP00000396024:S7897Y;ENSP00000265368:S7968Y;ENSP00000390975:S7897Y;ENSP00000341887:S7580Y;ENSP00000349276:S2492Y;ENSP00000356220:S890Y;ENSP00000346701:S123Y	ENSP00000265368:S7968Y	S	-	2	0	SYNE1	152518813	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.827000	0.97445	0.650000	0.86243	TCT		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	56	1	0	0.000673444	1	0.000685014	10	56				
ATP10A	57194	broad.mit.edu	37	15	25981214	25981214	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25981214A>G	ENST00000356865.6	-	3	840	c.729T>C	c.(727-729)ttT>ttC	p.F243F	RNA5SP390_ENST00000410191.1_RNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	243					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCAGCCGCGAAACCTACTCA	0.453																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(727-729)ttT>ttC		ATPase, class V, type 10A							155.0	105.0	122.0					15																	25981214		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25981214A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.729T>C	15.37:g.25981214A>G							p.F243F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	3	840	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	243					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.729T>C	CCDS32178.1																																																																																				0.453	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		19	22	0	0	0	1	0	19	22				
BRINP1	1620	broad.mit.edu	37	9	121930403	121930403	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:121930403G>A	ENST00000265922.3	-	8	1706	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	415					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TGCTGCCGTGGCACACGCAGC	0.612																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1243-1245)tgC>tgT									22.0	21.0	21.0					9																	121930403		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930403G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1245C>T	9.37:g.121930403G>A						DBC1_ENST00000482797.1_Intron	p.C415C	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1706	-			415					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1245C>T	CCDS6822.1																																																																																				0.612	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		8	16	0	0	0	1	0	8	16				
CACNA2D4	93589	broad.mit.edu	37	12	1993988	1993988	+	Silent	SNP	G	G	A	rs200027649	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:1993988G>A	ENST00000382722.5	-	11	1580	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	CACNA2D4_ENST00000587995.1_Silent_p.G406G|CACNA2D4_ENST00000585732.1_Silent_p.G322G|CACNA2D4_ENST00000585708.1_Silent_p.G342G|CACNA2D4_ENST00000588077.1_Silent_p.G342G|CACNA2D4_ENST00000586184.1_Silent_p.G406G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	406	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCTCCACGGCGCCGTCGCTGA	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16447	0.0		0.0	False		,,,				2504	0.0				Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1216-1218)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4		G		4,4108		0,4,2052	48.0	55.0	53.0		1218	-2.8	0.3	12		53	4,8372		0,4,4184	no	coding-synonymous	CACNA2D4	NM_172364.4		0,8,6236	AA,AG,GG		0.0478,0.0973,0.0641		406/1138	1993988	8,12480	2056	4188	6244	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1993988G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1218C>T	12.37:g.1993988G>A						CACNA2D4_ENST00000585732.1_Silent_p.G322G|CACNA2D4_ENST00000587995.1_Silent_p.G406G|CACNA2D4_ENST00000588077.1_Silent_p.G342G|CACNA2D4_ENST00000585708.1_Silent_p.G342G|CACNA2D4_ENST00000586184.1_Silent_p.G406G	p.G406G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	11	1580	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	406			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.1218C>T	CCDS44785.1																																																																																				0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	14	0	0	0	1	0	11	14				
CEP250	11190	broad.mit.edu	37	20	34060621	34060621	+	Missense_Mutation	SNP	C	C	T	rs370543710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34060621C>T	ENST00000397527.1	+	12	1894	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	CEP250_ENST00000342580.4_Missense_Mutation_p.R392C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	392					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACTCTGGTGCGTTCAGTGCT	0.512																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1174-1176)Cgt>Tgt		centrosomal protein 250kDa		C	CYS/ARG	0,4406		0,0,2203	196.0	178.0	184.0		1174	4.4	1.0	20		184	3,8597	3.0+/-9.4	0,3,4297	no	missense	CEP250	NM_007186.3	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	392/2443	34060621	3,13003	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34060621C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1174C>T	20.37:g.34060621C>T	ENSP00000380661:p.Arg392Cys					CEP250_ENST00000342580.4_Missense_Mutation_p.R392C	p.R392C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		12	1894	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		392					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.1174C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982793	0.53827	0.0	3.49E-4	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	T;T;T	0.25414	2.74;2.78;1.8	5.35	4.4	0.53042	.	0.507255	0.18936	N	0.127073	T	0.26304	0.0642	L	0.54323	1.7	0.41012	D	0.985016	B	0.20780	0.048	B	0.16289	0.015	T	0.08953	-1.0697	10	0.87932	D	0	.	12.1375	0.53979	0.0:0.921:0.0:0.079	.	392	Q9BV73	CP250_HUMAN	C	392;392;391	ENSP00000380661:R392C;ENSP00000341541:R392C;ENSP00000413827:R391C	ENSP00000341541:R392C	R	+	1	0	CEP250	33524035	0.991000	0.36638	1.000000	0.80357	0.932000	0.56968	1.782000	0.38654	1.627000	0.50400	0.655000	0.94253	CGT		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		29	58	0	0	0	1	0	29	58				
OVGP1	5016	broad.mit.edu	37	1	111965561	111965561	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111965561C>T	ENST00000369732.3	-	6	651	c.596G>A	c.(595-597)cGc>cAc	p.R199H	OVGP1_ENST00000540696.1_Missense_Mutation_p.R139H|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	199					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTAGAAAGCGCACATCATA	0.562																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(595-597)cGc>cAc		oviductal glycoprotein 1, 120kDa							236.0	223.0	227.0					1																	111965561		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965561C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.596G>A	1.37:g.111965561C>T	ENSP00000358747:p.Arg199His					OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Missense_Mutation_p.R139H	p.R199H	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	651	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	199					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.596G>A	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171459	0.21621	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05855	3.38;3.63	4.11	-8.21	0.01041	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.440192	0.24568	N	0.037405	T	0.01061	0.0035	L	0.40543	1.245	0.09310	N	1	B;B	0.21309	0.019;0.054	B;B	0.18871	0.023;0.021	T	0.37934	-0.9684	10	0.45353	T	0.12	1.0121	3.0643	0.06210	0.2171:0.1458:0.4628:0.1743	.	199;263	Q12889;Q59HH5	OVGP1_HUMAN;.	H	199;263;139	ENSP00000358747:R199H;ENSP00000438449:R139H	ENSP00000358743:R263H	R	-	2	0	OVGP1	111767084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.273000	0.01164	-1.770000	0.01295	-0.282000	0.10007	CGC		0.562	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		55	130	0	0	0	1	0	55	130				
CAPRIN2	65981	broad.mit.edu	37	12	30887978	30887978	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:30887978A>G	ENST00000395805.2	-	4	1280	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Y245H	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGGCAAATACACTGCACCA	0.378																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(733-735)Tat>Cat		caprin family member 2							183.0	179.0	181.0					12																	30887978		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30887978A>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.733T>C	12.37:g.30887978A>G	ENSP00000379150:p.Tyr245His					CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y245H|CAPRIN2_ENST00000308433.5_5'UTR	p.Y245H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			4	1483	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		245						Missense_Mutation	SNP	ENST00000395805.2	37	c.733T>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397024	0.42512	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	D;D;D;D;D;T;T;T	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;1.86;1.86;1.86	4.72	4.72	0.59763	.	0.411868	0.27393	N	0.019569	D	0.90174	0.6929	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B	0.49447	0.04;0.124;0.924;0.033;0.024	B;B;P;B;B	0.44732	0.014;0.033;0.459;0.015;0.01	D	0.88812	0.3292	10	0.24483	T	0.36	-1.6035	14.3759	0.66874	1.0:0.0:0.0:0.0	.	245;245;245;245;245	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	H	245;245;245;245;164;42;42;164	ENSP00000298892:Y245H;ENSP00000379150:Y245H;ENSP00000251071:Y245H;ENSP00000391479:Y245H;ENSP00000438010:Y164H;ENSP00000444137:Y42H;ENSP00000440785:Y42H;ENSP00000443353:Y164H	ENSP00000251071:Y245H	Y	-	1	0	CAPRIN2	30779245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.617000	0.61204	1.981000	0.57761	0.482000	0.46254	TAT		0.378	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		14	188	0	0	0	1	0	14	188				
ADCY9	115	broad.mit.edu	37	16	4027606	4027606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4027606G>A	ENST00000294016.3	-	9	3243	c.2705C>T	c.(2704-2706)gCg>gTg	p.A902V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	902					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCAATCAGCGCGGCCGAGCC	0.662																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2704-2706)gCg>gTg		adenylate cyclase 9							36.0	32.0	33.0					16																	4027606		2194	4297	6491	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4027606G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2705C>T	16.37:g.4027606G>A	ENSP00000294016:p.Ala902Val						p.A902V	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			9	3243	-			902					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2705C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639153	0.03557	.	.	ENSG00000162104	ENST00000294016	T	0.80653	-1.4	5.74	3.5	0.40072	.	0.914603	0.09535	N	0.789060	T	0.49064	0.1535	N	0.00841	-1.15	0.19575	N	0.999963	B	0.02656	0.0	B	0.01281	0.0	T	0.37549	-0.9701	10	0.05436	T	0.98	.	8.7666	0.34706	0.839:0.0:0.161:0.0	.	902	O60503	ADCY9_HUMAN	V	902	ENSP00000294016:A902V	ENSP00000294016:A902V	A	-	2	0	ADCY9	3967607	0.999000	0.42202	0.006000	0.13384	0.244000	0.25665	4.270000	0.58896	0.461000	0.27071	0.563000	0.77884	GCG		0.662	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	9	0	0	0	1	0	4	9				
AGL	178	broad.mit.edu	37	1	100346235	100346235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:100346235C>T	ENST00000294724.4	+	14	2261	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	AGL_ENST00000361302.3_Nonsense_Mutation_p.R579*|AGL_ENST00000370165.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R578*|AGL_ENST00000370161.2_Nonsense_Mutation_p.R579*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R595*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	595					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R595R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTAGTTTACCGATATGGAGG	0.398																																						ENST00000294724.4																			1	Substitution - coding silent(1)	p.R595R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1783-1785)Cga>Tga		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							289.0	272.0	278.0					1																	100346235		2203	4300	6503	SO:0001587	stop_gained	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346235C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1783C>T	1.37:g.100346235C>T	ENSP00000294724:p.Arg595*					AGL_ENST00000370161.2_Nonsense_Mutation_p.R579*|AGL_ENST00000361302.3_Nonsense_Mutation_p.R579*|AGL_ENST00000361915.3_Nonsense_Mutation_p.R595*|AGL_ENST00000370165.3_Nonsense_Mutation_p.R595*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R578*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R595*	p.R595*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	14	2261	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	595					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	c.1783C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	39	7.663355	0.98419	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6494	16.0871	0.81065	0.1416:0.8584:0.0:0.0	.	.	.	.	X	595;595;595;595;579;579;578	.	ENSP00000294724:R595X	R	+	1	2	AGL	100118823	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	5.761000	0.68801	1.444000	0.47605	0.591000	0.81541	CGA		0.398	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		49	91	0	0	0	1	0	49	91				
DNAH1	25981	broad.mit.edu	37	3	52433005	52433005	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52433005G>A	ENST00000420323.2	+	76	12490	c.12229G>A	c.(12229-12231)Gcc>Acc	p.A4077T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4142					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCTGGAGTGCCAAGGCCTA	0.572																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12229-12231)Gcc>Acc		dynein, axonemal, heavy chain 1							81.0	88.0	86.0					3																	52433005		2086	4209	6295	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433005G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12229G>A	3.37:g.52433005G>A	ENSP00000401514:p.Ala4077Thr						p.A4077T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	76	12490	+			4142					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12229G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494539	0.26774	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08720	3.06	4.34	2.43	0.29744	.	0.536026	0.16949	N	0.192967	T	0.05731	0.0150	L	0.41124	1.26	0.09310	N	1	B;B	0.17667	0.01;0.023	B;B	0.21546	0.035;0.007	T	0.40289	-0.9571	10	0.21014	T	0.42	.	0.4081	0.00436	0.2287:0.1565:0.2944:0.3204	.	4077;4142	C9JXH6;Q9P2D7-2	.;.	T	4077;830	ENSP00000401514:A4077T	ENSP00000273600:A830T	A	+	1	0	DNAH1	52408045	0.006000	0.16342	0.882000	0.34594	0.995000	0.86356	0.079000	0.14782	0.514000	0.28300	0.655000	0.94253	GCC		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	53	0	0	0	1	0	4	53				
MDFIC	29969	broad.mit.edu	37	7	114655765	114655765	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:114655765G>T	ENST00000393486.1	+	5	1107	c.517G>T	c.(517-519)Gct>Tct	p.A173S	MDFIC_ENST00000257724.3_Missense_Mutation_p.A282S	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTGTATCCTGGCTTGCTTGTT	0.453																																						ENST00000393486.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(517-519)Gct>Tct		MyoD family inhibitor domain containing							416.0	401.0	406.0					7																	114655765		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655765G>T	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.517G>T	7.37:g.114655765G>T	ENSP00000377126:p.Ala173Ser					MDFIC_ENST00000257724.3_Missense_Mutation_p.A282S	p.A173S	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN			5	1107	+			173			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.517G>T	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762939	0.89932	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000498196	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67894	-0.5552	9	0.20519	T	0.43	-10.894	20.3931	0.98965	0.0:0.0:1.0:0.0	.	173	Q9P1T7	MDFIC_HUMAN	S	282;173;118	.	ENSP00000257724:A282S	A	+	1	0	MDFIC	114443001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCT		0.453	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		80	135	1	0	2.09077e-21	1	2.32225e-21	80	135				
DENND1A	57706	broad.mit.edu	37	9	126144481	126144481	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:126144481G>A	ENST00000373624.2	-	22	2461	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	DENND1A_ENST00000542603.1_Missense_Mutation_p.P539S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P765S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	754	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACAACACCAGGCAGGAGCCCT	0.711																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2260-2262)Cct>Tct		DENN/MADD domain containing 1A							16.0	21.0	19.0					9																	126144481		2199	4297	6496	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144481G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2260C>T	9.37:g.126144481G>A	ENSP00000362727:p.Pro754Ser					DENND1A_ENST00000542603.1_Missense_Mutation_p.P539S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P765S	p.P754S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			22	2461	-			754			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.2260C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	2.067	-0.413913	0.04799	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.26373	3.18;1.74;3.05	4.63	1.74	0.24563	.	0.638418	0.15794	N	0.244297	T	0.17280	0.0415	L	0.54323	1.7	0.18873	N	0.999987	B;B;B;B	0.09022	0.002;0.002;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.001;0.001	T	0.34700	-0.9818	10	0.08179	T	0.78	-7.1712	3.1542	0.06498	0.3296:0.2165:0.454:0.0	.	765;755;754;617	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	S	754;539;765	ENSP00000362727:P754S;ENSP00000437457:P539S;ENSP00000377766:P765S	ENSP00000362727:P754S	P	-	1	0	DENND1A	125184302	0.744000	0.28250	0.032000	0.17829	0.010000	0.07245	0.156000	0.16382	0.382000	0.24878	0.557000	0.71058	CCT		0.711	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		7	9	0	0	0	1	0	7	9				
GPC1	2817	broad.mit.edu	37	2	241401798	241401798	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:241401798G>A	ENST00000264039.2	+	3	764	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	172					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCCTGCTCGAGCGCCTCTTCA	0.692																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(514-516)gaG>gaA		glypican 1							11.0	12.0	12.0					2																	241401798		2168	4278	6446	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241401798G>A	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.516G>A	2.37:g.241401798G>A							p.E172E	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	764	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	172					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.516G>A	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.477|9.477	1.097227|1.097227	0.20552|0.20552	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000427506;ENST00000425056	.|.	.|.	.|.	3.1|3.1	0.0685|0.0685	0.14370|0.14370	.|.	.|.	.|.	.|.	.|.	T|T	0.53481|0.53481	0.1799|0.1799	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42085|0.42085	-0.9472|-0.9472	4|4	.|.	.|.	.|.	-27.9407|-27.9407	7.1912|7.1912	0.25826|0.25826	0.3406:0.0:0.6594:0.0|0.3406:0.0:0.6594:0.0	.|.	.|.	.|.	.|.	T|N	212|129;168	.|.	.|.	A|S	+|+	1|2	0|0	GPC1|GPC1	241050471|241050471	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.974000|0.974000	0.67602|0.67602	1.102000|1.102000	0.31050|0.31050	-0.115000|-0.115000	0.11915|0.11915	-0.235000|-0.235000	0.12190|0.12190	GCG|AGC		0.692	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		4	6	0	0	0	1	0	4	6				
COLGALT1	79709	broad.mit.edu	37	19	17671207	17671207	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17671207A>G	ENST00000252599.4	+	3	542	c.422A>G	c.(421-423)gAg>gGg	p.E141G		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	141					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TCACGCTACGAGCATGTCATG	0.552																																						ENST00000252599.4																			0											c.(421-423)gAg>gGg		collagen beta(1-O)galactosyltransferase 1							115.0	97.0	103.0					19																	17671207		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17671207A>G	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.422A>G	19.37:g.17671207A>G	ENSP00000252599:p.Glu141Gly						p.E141G	NM_024656.2	NP_078932.2					3	542	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.422A>G	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949701	0.53186	.	.	ENSG00000130309	ENST00000252599	D	0.84298	-1.83	4.61	4.61	0.57282	.	0.114937	0.56097	D	0.000024	D	0.86066	0.5844	M	0.72479	2.2	0.54753	D	0.999989	B	0.29270	0.24	B	0.39771	0.309	D	0.83807	0.0239	10	0.34782	T	0.22	-23.0424	11.9882	0.53159	1.0:0.0:0.0:0.0	.	141	Q8NBJ5	GT251_HUMAN	G	141	ENSP00000252599:E141G	ENSP00000252599:E141G	E	+	2	0	GLT25D1	17532207	0.988000	0.35896	0.969000	0.41365	0.941000	0.58515	2.668000	0.46816	1.729000	0.51567	0.386000	0.25728	GAG		0.552	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		19	21	0	0	0	1	0	19	21				
TIGD2	166815	broad.mit.edu	37	4	90034372	90034372	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:90034372A>G	ENST00000317005.2	+	1	405	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	83	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGATAGAGTTATGATAGAGTG	0.388																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(247-249)Atg>Gtg		tigger transposable element derived 2							117.0	114.0	115.0					4																	90034372		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034372A>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.247A>G	4.37:g.90034372A>G	ENSP00000317170:p.Met83Val						p.M83V	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	405	+		Hepatocellular(203;0.114)	83			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.247A>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	a	11.68	1.710823	0.30322	.	.	ENSG00000180346	ENST00000317005	T	0.18810	2.19	3.9	2.72	0.32119	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.50627	U	0.000118	T	0.22551	0.0544	N	0.20986	0.625	0.23249	N	0.998042	P	0.48162	0.906	P	0.62560	0.904	T	0.04281	-1.0963	10	0.36615	T	0.2	.	3.9265	0.09265	0.6678:0.2166:0.1156:0.0	.	83	Q4W5G0	TIGD2_HUMAN	V	83	ENSP00000317170:M83V	ENSP00000317170:M83V	M	+	1	0	TIGD2	90253395	1.000000	0.71417	0.811000	0.32455	0.963000	0.63663	1.484000	0.35508	0.579000	0.29504	0.451000	0.29950	ATG		0.388	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		38	56	0	0	0	1	0	38	56				
EIF4B	1975	broad.mit.edu	37	12	53421650	53421650	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53421650G>A	ENST00000262056.9	+	7	1078	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	EIF4B_ENST00000416762.3_Missense_Mutation_p.R212Q|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.R251Q	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	251	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GATATGGATCGATATGGTGGC	0.483																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(751-753)cGa>cAa		eukaryotic translation initiation factor 4B							86.0	82.0	83.0					12																	53421650		1914	4118	6032	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421650G>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.752G>A	12.37:g.53421650G>A	ENSP00000262056:p.Arg251Gln					EIF4B_ENST00000420463.3_Missense_Mutation_p.R251Q|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R212Q	p.R251Q	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			7	1078	+			251			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.752G>A	CCDS41788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.533319|3.533319	0.64972|0.64972	.|.	.|.	ENSG00000063046|ENSG00000063046	ENST00000430205|ENST00000262056;ENST00000420463;ENST00000416762;ENST00000549481	.|T;T;T	.|0.54479	.|0.57;0.59;0.63	4.62|4.62	2.78|2.78	0.32641|0.32641	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.37100	.|0.0991	L|L	0.52573|0.52573	1.65|1.65	0.40823|0.40823	D|D	0.983525|0.983525	.|B;B;B;B	.|0.31209	.|0.038;0.023;0.313;0.023	.|B;B;B;B	.|0.14578	.|0.009;0.004;0.011;0.004	.|T	.|0.17319	.|-1.0373	.|10	.|0.11485	.|T	.|0.65	.|.	9.5277|9.5277	0.39173|0.39173	0.1797:0.0:0.8203:0.0|0.1797:0.0:0.8203:0.0	.|.	.|212;251;227;251	.|B4DS13;E7EX17;E7EPC9;P23588	.|.;.;.;IF4B_HUMAN	.|Q	-1|251;251;212;206	.|ENSP00000262056:R251Q;ENSP00000388806:R251Q;ENSP00000449746:R206Q	.|ENSP00000262056:R251Q	.|R	+|+	.|2	.|0	EIF4B|EIF4B	51707917|51707917	1.000000|1.000000	0.71417|0.71417	0.570000|0.570000	0.28473|0.28473	0.894000|0.894000	0.52154|0.52154	6.054000|6.054000	0.71096|0.71096	1.252000|1.252000	0.44001|0.44001	0.655000|0.655000	0.94253|0.94253	.|CGA		0.483	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		16	21	0	0	0	1	0	16	21				
C6orf222	389384	broad.mit.edu	37	6	36298070	36298070	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:36298070G>A	ENST00000437635.2	-	2	575	c.398C>T	c.(397-399)cCg>cTg	p.P133L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	133										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CAGGGGCTCCGGATGCTGGGA	0.617																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(397-399)cCg>cTg		chromosome 6 open reading frame 222							73.0	65.0	68.0					6																	36298070		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36298070G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.398C>T	6.37:g.36298070G>A	ENSP00000418983:p.Pro133Leu						p.P133L	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	575	-			133					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.398C>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.523972	0.00959	.	.	ENSG00000189325	ENST00000437635	T	0.53640	0.61	3.55	0.565	0.17309	.	1.486350	0.04351	N	0.355697	T	0.17577	0.0422	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	10	0.41790	T	0.15	-46.8963	9.0222	0.36206	0.2734:0.0:0.7266:0.0	.	133	P0C671	CF222_HUMAN	L	133	ENSP00000418983:P133L	ENSP00000418983:P133L	P	-	2	0	C6orf222	36406048	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.218000	0.09240	-0.240000	0.09696	-1.959000	0.00480	CCG		0.617	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		32	34	0	0	0	1	0	32	34				
TTC30B	150737	broad.mit.edu	37	2	178415725	178415725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:178415725G>T	ENST00000408939.3	-	1	2017	c.1767C>A	c.(1765-1767)tgC>tgA	p.C589*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	589					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGGACAGGAAGCATCTTTTGG	0.378																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1765-1767)tgC>tgA		tetratricopeptide repeat domain 30B							170.0	172.0	171.0					2																	178415725		2203	4300	6503	SO:0001587	stop_gained	150737				cell projection organization	cilium	binding	g.chr2:178415725G>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1767C>A	2.37:g.178415725G>T	ENSP00000386181:p.Cys589*						p.C589*	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	2017	-			589					Q63HQ1|Q96NE6	Nonsense_Mutation	SNP	ENST00000408939.3	37	c.1767C>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609061	0.96637	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	.	.	.	4.7	-1.75	0.08031	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4275	0.50020	0.5844:0.0:0.4156:0.0	.	.	.	.	X	542;589	.	ENSP00000386181:C589X	C	-	3	2	TTC30B	178123971	1.000000	0.71417	0.984000	0.44739	0.970000	0.65996	0.950000	0.29122	-0.490000	0.06707	-0.302000	0.09304	TGC		0.378	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		25	132	1	0	5.61819e-17	1	6.17723e-17	25	132				
P2RY2	5029	broad.mit.edu	37	11	72946149	72946149	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:72946149C>A	ENST00000311131.2	+	3	1412	c.945C>A	c.(943-945)cgC>cgA	p.R315R	P2RY2_ENST00000393596.2_Silent_p.R315R|P2RY2_ENST00000393597.2_Silent_p.R315R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	315					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCTCGTACGCTTTGCCCGAG	0.647																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(943-945)cgC>cgA		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						50.0	44.0	46.0					11																	72946149		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946149C>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.945C>A	11.37:g.72946149C>A						P2RY2_ENST00000393597.2_Silent_p.R315R|P2RY2_ENST00000393596.2_Silent_p.R315R	p.R315R	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	1412	+			315					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.945C>A	CCDS8219.1																																																																																				0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	10	1	0	5.4927e-09	1	5.81457e-09	9	10				
ACOX2	8309	broad.mit.edu	37	3	58508282	58508282	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58508282C>T	ENST00000302819.5	-	12	1864	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.G511R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	525					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGGTCAGCTCCGGATTGCGTC	0.517																																						ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1573-1575)Gga>Aga		acyl-CoA oxidase 2, branched chain							140.0	120.0	127.0					3																	58508282		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58508282C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1573G>A	3.37:g.58508282C>T	ENSP00000307697:p.Gly525Arg					ACOX2_ENST00000459701.2_Missense_Mutation_p.G511R|ACOX2_ENST00000481527.1_5'UTR	p.G525R	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	12	1864	-			525					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1573G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122131	0.56613	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.55052	0.54;0.54	4.81	4.81	0.61882	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000003	T	0.66356	0.2781	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.61297	-0.7091	10	0.27785	T	0.31	-50.9287	18.7887	0.91965	0.0:1.0:0.0:0.0	.	525	Q99424	ACOX2_HUMAN	R	511;525	ENSP00000418562:G511R;ENSP00000307697:G525R	ENSP00000307697:G525R	G	-	1	0	ACOX2	58483322	0.985000	0.35326	0.175000	0.22980	0.804000	0.45430	5.003000	0.63959	2.605000	0.88082	0.655000	0.94253	GGA		0.517	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			18	34	0	0	0	1	0	18	34				
PCLO	27445	broad.mit.edu	37	7	82585993	82585993	+	Missense_Mutation	SNP	T	T	C	rs371527843		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:82585993T>C	ENST00000333891.9	-	5	4613	c.4276A>G	c.(4276-4278)Aca>Gca	p.T1426A	PCLO_ENST00000423517.2_Missense_Mutation_p.T1426A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGCAAGTGTACTTGCTTGA	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4276-4278)Aca>Gca		piccolo presynaptic cytomatrix protein		T	ALA/THR,ALA/THR	0,3654		0,0,1827	132.0	120.0	124.0		4276,4276	3.0	1.0	7		124	1,8155		0,1,4077	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	58,58	0,1,5904	CC,CT,TT		0.0123,0.0,0.0085	benign,benign	1426/5143,1426/4936	82585993	1,11809	1827	4078	5905	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585993T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4276A>G	7.37:g.82585993T>C	ENSP00000334319:p.Thr1426Ala					PCLO_ENST00000333891.8_Missense_Mutation_p.T1426A	p.T1426A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4613	-			1357						Missense_Mutation	SNP	ENST00000333891.9	37	c.4276A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090889	0.20471	0.0	1.23E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.62	2.98	0.34508	.	.	.	.	.	T	0.13970	0.0338	L	0.43152	1.355	0.58432	D	0.999999	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.009	T	0.06698	-1.0812	9	0.87932	D	0	.	5.9953	0.19491	0.1322:0.1444:0.0:0.7233	.	1426;1426	Q9Y6V0-5;Q9Y6V0-6	.;.	A	1357;1426;1426	ENSP00000334319:T1426A;ENSP00000388393:T1426A	ENSP00000334319:T1426A	T	-	1	0	PCLO	82423929	1.000000	0.71417	0.965000	0.40720	0.758000	0.43043	2.407000	0.44565	0.971000	0.38288	0.533000	0.62120	ACA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		23	17	0	0	0	1	0	23	17				
GJA8	2703	broad.mit.edu	37	1	147380167	147380167	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:147380167C>T	ENST00000369235.1	+	1	85	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	GJA8_ENST00000240986.4_Missense_Mutation_p.L29F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	29					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCTCACCGTGCTTTTCATCTT	0.582																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(85-87)Ctt>Ttt		gap junction protein, alpha 8, 50kDa							105.0	97.0	99.0					1																	147380167		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380167C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.85C>T	1.37:g.147380167C>T	ENSP00000358238:p.Leu29Phe					GJA8_ENST00000369235.1_Missense_Mutation_p.L29F	p.L29F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	138	+	all_hematologic(923;0.0276)		29					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.85C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.520065	0.85495	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99479	-5.98;-5.98	5.03	5.03	0.67393	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98296	1.0516	10	0.87932	D	0	.	18.3463	0.90324	0.0:1.0:0.0:0.0	.	29	P48165	CXA8_HUMAN	F	29	ENSP00000240986:L29F;ENSP00000358238:L29F	ENSP00000240986:L29F	L	+	1	0	GJA8	145846791	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	7.755000	0.85180	2.320000	0.78422	0.591000	0.81541	CTT		0.582	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	65	0	0	0	1	0	5	65				
EXTL3	2137	broad.mit.edu	37	8	28575164	28575164	+	Missense_Mutation	SNP	G	G	A	rs138950489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:28575164G>A	ENST00000220562.4	+	3	2490	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V146M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	530					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTTTAATACCGTGCTGGCTAT	0.577																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1588-1590)Gtg>Atg		exostosin-like glycosyltransferase 3		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	53.0	55.0	54.0		1588	4.9	0.9	8	dbSNP_134	54	0,8600		0,0,4300	yes	missense	EXTL3	NM_001440.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	530/920	28575164	1,13005	2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28575164G>A	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1588G>A	8.37:g.28575164G>A	ENSP00000220562:p.Val530Met					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V146M	p.V530M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	2490	+		Ovarian(32;0.069)	530					D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.1588G>A	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244581	0.22796	2.27E-4	0.0	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.95853	-3.42;-3.83	5.8	4.9	0.64082	.	0.224247	0.40640	N	0.001045	D	0.91140	0.7210	L	0.42245	1.32	0.43003	D	0.994523	P	0.41524	0.753	B	0.33521	0.165	D	0.90456	0.4442	10	0.62326	D	0.03	-25.6122	10.0849	0.42412	0.0712:0.1385:0.7904:0.0	.	530	O43909	EXTL3_HUMAN	M	146;530	ENSP00000428691:V146M;ENSP00000220562:V530M	ENSP00000220562:V530M	V	+	1	0	EXTL3	28631083	0.897000	0.30589	0.884000	0.34674	0.976000	0.68499	1.491000	0.35583	1.390000	0.46547	0.563000	0.77884	GTG		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		15	21	0	0	0	1	0	15	21				
CLTC	1213	broad.mit.edu	37	17	57721655	57721655	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57721655A>G	ENST00000269122.3	+	2	335	c.61A>G	c.(61-63)Aac>Gac	p.N21D	CLTC_ENST00000579456.1_Missense_Mutation_p.N21D|CLTC_ENST00000393043.1_Missense_Mutation_p.N21D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	21	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					cctgggtatcaacccagcaaa	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(61-63)Aac>Gac		clathrin, heavy chain (Hc)							49.0	47.0	47.0					17																	57721655		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57721655A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.61A>G	17.37:g.57721655A>G	ENSP00000269122:p.Asn21Asp					CLTC_ENST00000393043.1_Missense_Mutation_p.N21D|CLTC_ENST00000579456.1_Missense_Mutation_p.N21D	p.N21D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			2	335	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		21			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.61A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251331	0.80135	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21361	2.01;2.01	5.48	5.48	0.80851	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.64080	1.96	0.31833	N	0.62443	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.009	T	0.48055	-0.9068	10	0.25751	T	0.34	.	15.566	0.76294	1.0:0.0:0.0:0.0	.	21;21	Q00610;Q00610-2	CLH1_HUMAN;.	D	21	ENSP00000269122:N21D;ENSP00000376763:N21D	ENSP00000269122:N21D	N	+	1	0	CLTC	55076437	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.335000	0.96500	2.061000	0.61500	0.482000	0.46254	AAC		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		44	5	0	0	0	1	0	44	5				
MYO1B	4430	broad.mit.edu	37	2	192225388	192225388	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192225388G>A	ENST00000392318.3	+	8	841	c.594G>A	c.(592-594)caG>caA	p.Q198Q	MYO1B_ENST00000339514.4_Silent_p.Q198Q|MYO1B_ENST00000304164.4_Silent_p.Q198Q|MYO1B_ENST00000392316.1_Silent_p.Q198Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	198	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGTTAAACAGCCAAGAGGTG	0.398																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(592-594)caG>caA		myosin IB							204.0	206.0	205.0					2																	192225388		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225388G>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.594G>A	2.37:g.192225388G>A						MYO1B_ENST00000339514.4_Silent_p.Q198Q|MYO1B_ENST00000392316.1_Silent_p.Q198Q|MYO1B_ENST00000304164.4_Silent_p.Q198Q	p.Q198Q	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	841	+			198			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.594G>A	CCDS46477.1																																																																																				0.398	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		52	94	0	0	0	1	0	52	94				
MPRIP	23164	broad.mit.edu	37	17	17076038	17076038	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17076038C>T	ENST00000341712.4	+	17	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.R780W|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.R742W|MPRIP_ENST00000395811.5_Missense_Mutation_p.R780W			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	780	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				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						GAACGCCCACCGGGAGGAAAT	0.652																																						ENST00000395811.5																			0				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						c.(2338-2340)Cgg>Tgg		myosin phosphatase Rho interacting protein							79.0	71.0	74.0					17																	17076038		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17076038C>T	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.2338C>T	17.37:g.17076038C>T	ENSP00000342379:p.Arg780Trp					MPRIP_ENST00000395804.3_Missense_Mutation_p.R780W|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.R780W|MPRIP_ENST00000444976.1_Missense_Mutation_p.R742W	p.R780W	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			17	2427	+			780			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2338C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636792|4.636792	0.87760|0.87760	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	.|T;T;T;T	.|0.26810	.|1.71;2.0;1.98;1.98	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.220700	.|0.37304	.|N	.|0.002146	T|T	0.48187|0.48187	0.1486|0.1486	L|L	0.53249|0.53249	1.67|1.67	0.51482|0.51482	D|D	0.999925|0.999925	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.913;0.981;0.998;0.992;0.936	T|T	0.51371|0.51371	-0.8714|-0.8714	5|10	.|0.87932	.|D	.|0	-17.648|-17.648	17.9244|17.9244	0.88979|0.88979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|779;742;1144;780;780	.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.;.;.;.;MPRIP_HUMAN	L|W	1144|742;780;780;780	.|ENSP00000400189:R742W;ENSP00000379156:R780W;ENSP00000379149:R780W;ENSP00000342379:R780W	.|ENSP00000342379:R780W	P|R	+|+	2|1	0|2	MPRIP|MPRIP	17016763|17016763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.733000|3.733000	0.55029|0.55029	2.275000|2.275000	0.75901|0.75901	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.652	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		13	40	0	0	0	1	0	13	40				
ZCCHC12	170261	broad.mit.edu	37	X	117959424	117959424	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117959424C>T	ENST00000310164.2	+	4	724	c.217C>T	c.(217-219)Cca>Tca	p.P73S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	73					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tggcgtcctgccagattggaa	0.552																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(217-219)Cca>Tca		zinc finger, CCHC domain containing 12							72.0	73.0	73.0					X																	117959424		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959424C>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.217C>T	X.37:g.117959424C>T	ENSP00000308921:p.Pro73Ser						p.P73S	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	724	+			73					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.217C>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771781	0.49680	.	.	ENSG00000174460	ENST00000310164	T	0.08720	3.06	3.09	3.09	0.35607	.	0.000000	0.32593	N	0.005897	T	0.23727	0.0574	M	0.80028	2.48	0.31354	N	0.682197	D	0.89917	1.0	D	0.87578	0.998	T	0.08680	-1.0710	10	0.18276	T	0.48	-9.098	8.7855	0.34818	0.0:1.0:0.0:0.0	.	73	Q6PEW1	ZCH12_HUMAN	S	73	ENSP00000308921:P73S	ENSP00000308921:P73S	P	+	1	0	ZCCHC12	117843452	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.978000	0.49305	1.801000	0.52704	0.594000	0.82650	CCA		0.552	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		26	5	0	0	0	1	0	26	5				
SLC6A13	6540	broad.mit.edu	37	12	347148	347148	+	Silent	SNP	G	G	A	rs144376533	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:347148G>A	ENST00000343164.4	-	5	559	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC6A13_ENST00000445055.2_Silent_p.N77N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	169					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAGGGAGCCGTTGGTCTTCT	0.527													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19515	0.0		0.002	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(505-507)aaC>aaT		solute carrier family 6 (neurotransmitter transporter), member 13		G	,	3,4403	6.2+/-15.9	0,3,2200	165.0	141.0	149.0		231,507	-1.5	1.0	12	dbSNP_134	149	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous,coding-synonymous	SLC6A13	NM_001190997.2,NM_016615.4	,	0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153	,	77/511,169/603	347148	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:347148G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.507C>T	12.37:g.347148G>A						SLC6A13_ENST00000445055.2_Silent_p.N77N	p.N169N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		5	559	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		169					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.507C>T	CCDS8502.1																																																																																				0.527	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		18	25	0	0	0	1	0	18	25				
PLCG2	5336	broad.mit.edu	37	16	81934265	81934265	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:81934265G>T	ENST00000359376.3	+	14	1456	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	414	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGAGCAACAGCGTCACATGG	0.632																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1240-1242)caG>caT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							48.0	53.0	51.0					16																	81934265		2149	4260	6409	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934265G>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1242G>T	16.37:g.81934265G>T	ENSP00000352336:p.Gln414His						p.Q414H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			14	1456	+			414			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1242G>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941204	0.53079	.	.	ENSG00000197943	ENST00000359376	T	0.62105	0.05	5.03	1.93	0.25924	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	H	0.99675	4.695	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87529	0.2451	10	0.87932	D	0	.	9.7803	0.40645	0.3628:0.0:0.6372:0.0	.	281;414	B4E3H3;P16885	.;PLCG2_HUMAN	H	414	ENSP00000352336:Q414H	ENSP00000352336:Q414H	Q	+	3	2	PLCG2	80491766	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	3.844000	0.55873	0.507000	0.28148	-0.251000	0.11542	CAG		0.632	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			14	14	1	0	1.5842e-08	1	1.67426e-08	14	14				
ZNF862	643641	broad.mit.edu	37	7	149558272	149558272	+	Missense_Mutation	SNP	G	G	A	rs373741766		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149558272G>A	ENST00000223210.4	+	7	2268	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CGAGACCATCGTTTCTGCCCT	0.572																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2023-2025)Gtt>Att		zinc finger protein 862		G	ILE/VAL	0,4146		0,0,2073	28.0	30.0	29.0		2023	-1.6	0.5	7		29	1,8411		0,1,4205	no	missense	ZNF862	NM_001099220.1	29	0,1,6278	AA,AG,GG		0.0119,0.0,0.0080	benign	675/1170	149558272	1,12557	2073	4206	6279	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558272G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2023G>A	7.37:g.149558272G>A	ENSP00000223210:p.Val675Ile						p.V675I	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2268	+			675					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2023G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176528	0.01646	0.0	1.19E-4	ENSG00000106479	ENST00000223210	T	0.20598	2.06	5.17	-1.57	0.08506	Ribonuclease H-like (1);	0.507014	0.17932	N	0.157126	T	0.04003	0.0112	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43212	-0.9405	10	0.10902	T	0.67	-24.9884	9.3868	0.38347	0.4829:0.0:0.5171:0.0	.	675	O60290	ZN862_HUMAN	I	675	ENSP00000223210:V675I	ENSP00000223210:V675I	V	+	1	0	ZNF862	149189205	0.001000	0.12720	0.486000	0.27416	0.948000	0.59901	-0.698000	0.05092	-0.578000	0.05959	-0.150000	0.13652	GTT		0.572	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		8	15	0	0	0	1	0	8	15				
ABHD1	84696	broad.mit.edu	37	2	27353417	27353417	+	Silent	SNP	C	C	T	rs112184308		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27353417C>T	ENST00000316470.4	+	9	1137	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PREB_ENST00000416802.1_5'Flank	NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	341						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATACAGGCCGCCCAACACT	0.617																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1021-1023)gcC>gcT		abhydrolase domain containing 1							87.0	93.0	91.0					2																	27353417		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27353417C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.1023C>T	2.37:g.27353417C>T							p.A341A	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			9	1137	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.1023C>T	CCDS1736.1																																																																																				0.617	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		22	63	0	0	0	1	0	22	63				
CLPTM1L	81037	broad.mit.edu	37	5	1334415	1334415	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1334415C>T	ENST00000320895.5	-	7	1137	c.880G>A	c.(880-882)Gca>Aca	p.A294T	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.A161T|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.A294T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	294					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGGAACGCTGCGACAAAGAAG	0.552																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(880-882)Gca>Aca		CLPTM1-like							84.0	89.0	88.0					5																	1334415		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1334415C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.880G>A	5.37:g.1334415C>T	ENSP00000313854:p.Ala294Thr					CLPTM1L_ENST00000507807.1_Missense_Mutation_p.A161T|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.A294T	p.A294T	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	7	1137	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		294					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.880G>A	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735599	0.49045	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.42513	0.97;1.0;0.98	4.48	2.68	0.31781	.	0.048891	0.85682	D	0.000000	T	0.47507	0.1449	L	0.41079	1.255	0.54753	D	0.999987	D;D	0.76494	0.975;0.999	P;P	0.61003	0.476;0.882	T	0.25363	-1.0134	10	0.37606	T	0.19	-7.2183	10.6421	0.45598	0.0:0.8406:0.0:0.1594	.	294;161	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	T	294;161;294	ENSP00000313854:A294T;ENSP00000423321:A161T;ENSP00000315196:A294T	ENSP00000313854:A294T	A	-	1	0	CLPTM1L	1387415	1.000000	0.71417	0.010000	0.14722	0.059000	0.15707	5.491000	0.66887	0.317000	0.23160	0.556000	0.70494	GCA		0.552	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		8	11	0	0	0	1	0	8	11				
TTN	7273	broad.mit.edu	37	2	179594052	179594052	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179594052G>A	ENST00000591111.1	-	62	18104	c.17880C>T	c.(17878-17880)ggC>ggT	p.G5960G	TTN_ENST00000342992.6_Silent_p.G5033G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.G6277G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12751	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAGCTGCCGCCTTCATTGG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18829-18831)ggC>ggT		titin							111.0	108.0	109.0					2																	179594052		1890	4125	6015	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594052G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17880C>T	2.37:g.179594052G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5960G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G5033G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G6277G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	19055	-			5960			Ig-like 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.18831C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	64	0	0	0	1	0	35	64				
CARS	833	broad.mit.edu	37	11	3062163	3062163	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3062163G>A	ENST00000397111.5	-	3	414	c.169C>T	c.(169-171)Cca>Tca	p.P57S	CARS_ENST00000401769.3_Missense_Mutation_p.P70S|CARS_ENST00000380525.4_Missense_Mutation_p.P140S|CARS_ENST00000278224.9_Missense_Mutation_p.P57S|CARS_ENST00000397114.3_Missense_Mutation_p.P47S|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	57					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TAGACGGTTGGCCCACAGCAA	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(139-141)Cca>Tca		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						262.0	190.0	214.0					11																	3062163		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3062163G>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.169C>T	11.37:g.3062163G>A	ENSP00000380300:p.Pro57Ser					CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.P57S|CARS_ENST00000278224.9_Missense_Mutation_p.P57S|CARS_ENST00000401769.3_Missense_Mutation_p.P70S|CARS_ENST00000380525.4_Missense_Mutation_p.P140S	p.P47S			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	4	515	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	57					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.139C>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884904	0.91814	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.56941	3.2;3.2;3.2;0.43;3.2	4.29	4.29	0.51040	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	H	0.99357	4.53	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.995;0.995;1.0;0.999;1.0	D	0.91643	0.5328	10	0.87932	D	0	-22.25	16.9537	0.86252	0.0:0.0:1.0:0.0	.	70;140;57;57;140;47	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	140;57;57;47;70	ENSP00000369897:P140S;ENSP00000380300:P57S;ENSP00000278224:P57S;ENSP00000380303:P47S;ENSP00000384069:P70S	ENSP00000278224:P57S	P	-	1	0	CARS	3018739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.758000	0.91663	2.218000	0.71995	0.650000	0.86243	CCA		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		18	25	0	0	0	1	0	18	25				
KLHL8	57563	broad.mit.edu	37	4	88085121	88085121	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88085121C>T	ENST00000273963.5	-	9	1989	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	KLHL8_ENST00000425278.2_Missense_Mutation_p.A367T|KLHL8_ENST00000498875.2_Missense_Mutation_p.A474T|KLHL8_ENST00000512111.1_Missense_Mutation_p.A550T|KLHL8_ENST00000545252.1_Missense_Mutation_p.A199T	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	550					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATCACTGTTGCGATTCCCACT	0.448																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1648-1650)Gca>Aca		kelch-like family member 8							156.0	153.0	154.0					4																	88085121		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88085121C>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1648G>A	4.37:g.88085121C>T	ENSP00000273963:p.Ala550Thr					KLHL8_ENST00000498875.2_Missense_Mutation_p.A474T|KLHL8_ENST00000425278.2_Missense_Mutation_p.A367T|KLHL8_ENST00000512111.1_Missense_Mutation_p.A550T|KLHL8_ENST00000545252.1_Missense_Mutation_p.A199T	p.A550T	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	1989	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	550					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1648G>A	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866845	0.72065	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.71	4.85	0.62838	Galactose oxidase, beta-propeller (1);	0.260319	0.44285	N	0.000473	D	0.87188	0.6115	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	1.0;0.983;0.983	D;P;P	0.77557	0.99;0.547;0.643	D	0.85939	0.1457	10	0.33940	T	0.23	.	15.9607	0.79928	0.1359:0.8641:0.0:0.0	.	367;474;550	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	T	550;474;367;199;550	ENSP00000273963:A550T;ENSP00000426451:A474T;ENSP00000408854:A367T;ENSP00000439514:A199T;ENSP00000424131:A550T	ENSP00000273963:A550T	A	-	1	0	KLHL8	88304145	1.000000	0.71417	0.549000	0.28204	0.074000	0.17049	5.684000	0.68197	1.364000	0.46038	0.563000	0.77884	GCA		0.448	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			37	37	0	0	0	1	0	37	37				
INPP4B	8821	broad.mit.edu	37	4	142950019	142950019	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:142950019C>A	ENST00000513000.1	-	27	3124	c.2691G>T	c.(2689-2691)aaG>aaT	p.K897N	INPP4B_ENST00000262992.4_Missense_Mutation_p.K897N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K897N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K897N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	897					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGAAAGCATACTTTCTGCATT	0.393																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2689-2691)aaG>aaT		inositol polyphosphate-4-phosphatase, type II, 105kDa							157.0	139.0	145.0					4																	142950019		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142950019C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2691G>T	4.37:g.142950019C>A	ENSP00000425487:p.Lys897Asn					INPP4B_ENST00000262992.4_Missense_Mutation_p.K897N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K897N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K897N	p.K897N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			27	3124	-	all_hematologic(180;0.158)		897					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2691G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673620	0.47781	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.58	3.82	0.43975	.	0.452102	0.22545	N	0.058661	T	0.37652	0.1011	M	0.67397	2.05	0.80722	D	1	P	0.44478	0.836	P	0.46758	0.526	T	0.19712	-1.0297	10	0.48119	T	0.1	.	10.1656	0.42877	0.0:0.7899:0.0:0.2101	.	897	O15327	INP4B_HUMAN	N	897	ENSP00000425487:K897N;ENSP00000262992:K897N;ENSP00000308441:K897N;ENSP00000423954:K897N	ENSP00000262992:K897N	K	-	3	2	INPP4B	143169469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.799000	0.27028	1.342000	0.45619	0.585000	0.79938	AAG		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		10	57	1	0	3.07112e-06	1	3.18879e-06	10	57				
ARPP21	10777	broad.mit.edu	37	3	35778841	35778841	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:35778841C>A	ENST00000187397.4	+	16	2087	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	ARPP21_ENST00000337271.5_Missense_Mutation_p.P490H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P510H|ARPP21_ENST00000444190.1_Missense_Mutation_p.P490H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P510H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	544	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATGGCAGGCCCTCTGGTCACT	0.627																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1630-1632)cCt>cAt		cAMP-regulated phosphoprotein, 21kDa							25.0	26.0	26.0					3																	35778841		2200	4295	6495	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778841C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1631C>A	3.37:g.35778841C>A	ENSP00000187397:p.Pro544His					ARPP21_ENST00000444190.1_Missense_Mutation_p.P490H|ARPP21_ENST00000337271.5_Missense_Mutation_p.P490H|ARPP21_ENST00000417925.1_Missense_Mutation_p.P510H|ARPP21_ENST00000458225.1_Missense_Mutation_p.P510H	p.P544H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	2087	+			544			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1631C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	4.735	0.136646	0.09032	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.41758	1.06;1.06;1.06;0.99;1.06	5.91	3.94	0.45596	.	0.604578	0.16552	N	0.209438	T	0.15998	0.0385	N	0.01482	-0.84	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.0;0.001;0.002	T	0.14952	-1.0454	10	0.10902	T	0.67	-0.0703	11.5765	0.50864	0.5067:0.4933:0.0:0.0	.	510;32;544;490	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	H	510;490;490;544;510	ENSP00000414351:P510H;ENSP00000337792:P490H;ENSP00000405276:P490H;ENSP00000187397:P544H;ENSP00000412326:P510H	ENSP00000187397:P544H	P	+	2	0	ARPP21	35753845	0.273000	0.24181	0.024000	0.17045	0.968000	0.65278	4.430000	0.59907	1.475000	0.48197	0.655000	0.94253	CCT		0.627	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	10	1	0	0.0215528	1	0.0217053	6	10				
GRM5	2915	broad.mit.edu	37	11	88300321	88300321	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:88300321G>A	ENST00000305447.4	-	7	2679	c.2530C>T	c.(2530-2532)Cgc>Tgc	p.R844C	GRM5_ENST00000455756.2_Missense_Mutation_p.R844C|GRM5_ENST00000418177.2_Missense_Mutation_p.R844C|GRM5_ENST00000305432.5_Missense_Mutation_p.R844C|GRM5_ENST00000393297.1_Missense_Mutation_p.R844C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	844					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R844S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACATGCATGCGCACCACGGTA	0.572																																						ENST00000418177.2																			2	Substitution - Missense(2)	p.R844S(2)	lung(2)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2530-2532)Cgc>Tgc		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						126.0	101.0	110.0					11																	88300321		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300321G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2530C>T	11.37:g.88300321G>A	ENSP00000306138:p.Arg844Cys					GRM5_ENST00000455756.2_Missense_Mutation_p.R844C|GRM5_ENST00000305432.5_Missense_Mutation_p.R844C|GRM5_ENST00000305447.4_Missense_Mutation_p.R844C|GRM5_ENST00000393297.1_Missense_Mutation_p.R844C	p.R844C			P41594	GRM5_HUMAN			8	2897	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	844					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2530C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084656	0.76642	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89415	-2.5;-2.47;-2.47;-2.5;-2.51	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.925	D	0.92863	0.6307	9	.	.	.	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	844;844	P41594-2;P41594	.;GRM5_HUMAN	C	844	ENSP00000402912:R844C;ENSP00000405690:R844C;ENSP00000305905:R844C;ENSP00000306138:R844C;ENSP00000376975:R844C	.	R	-	1	0	GRM5	87939969	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.973000	0.88032	2.709000	0.92574	0.655000	0.94253	CGC		0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		27	42	0	0	0	1	0	27	42				
NCOR1	9611	broad.mit.edu	37	17	15971251	15971251	+	Silent	SNP	C	C	T	rs376520817		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15971251C>T	ENST00000268712.3	-	32	4955	c.4698G>A	c.(4696-4698)acG>acA	p.T1566T	NCOR1_ENST00000395857.3_Silent_p.T150T|NCOR1_ENST00000395851.1_Silent_p.T1582T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1566	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATCCAAGTGCGTGGGCAGGT	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.0					ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4696-4698)acG>acA		nuclear receptor corepressor 1		C	,	0,4406		0,0,2203	77.0	75.0	76.0		4746,4698	-5.1	0.9	17		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCOR1	NM_001190440.1,NM_006311.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1582/2338,1566/2441	15971251	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971251C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4698G>A	17.37:g.15971251C>T						NCOR1_ENST00000395851.1_Silent_p.T1582T|NCOR1_ENST00000395857.3_Silent_p.T150T	p.T1566T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4955	-			1566			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4698G>A	CCDS11175.1																																																																																				0.512	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		13	14	0	0	0	1	0	13	14				
SDC4	6385	broad.mit.edu	37	20	43961680	43961680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43961680C>A	ENST00000372733.3	-	3	268	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	SDC4_ENST00000537976.1_Nonsense_Mutation_p.E5*	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	77					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TGGACAACTTCAGGGCCGATC	0.502			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(229-231)Gaa>Taa		syndecan 4							192.0	155.0	167.0					20																	43961680		2203	4300	6503	SO:0001587	stop_gained	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43961680C>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.229G>T	20.37:g.43961680C>A	ENSP00000361818:p.Glu77*					SDC4_ENST00000537976.1_Nonsense_Mutation_p.E5*	p.E77*	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			3	268	-		Myeloproliferative disorder(115;0.0122)	77					O00773|Q16833|Q53FN9|Q6FGN3	Nonsense_Mutation	SNP	ENST00000372733.3	37	c.229G>T	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452815	0.43531	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	.	.	.	4.54	-0.655	0.11439	.	1.093280	0.06765	N	0.782500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-7.2571	7.1779	0.25755	0.0:0.4944:0.0:0.5056	.	.	.	.	X	77;5	.	ENSP00000361818:E77X	E	-	1	0	SDC4	43395094	0.000000	0.05858	0.011000	0.14972	0.041000	0.13682	-0.738000	0.04871	0.015000	0.14971	-0.252000	0.11476	GAA		0.502	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		8	34	1	0	0.0381472	1	0.0383569	8	34				
PDE10A	10846	broad.mit.edu	37	6	165756961	165756961	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165756961G>T	ENST00000366882.1	-	20	2140	c.1986C>A	c.(1984-1986)gcC>gcA	p.A662A	PDE10A_ENST00000539869.2_Silent_p.A672A|PDE10A_ENST00000354448.4_Silent_p.A662A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	662					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGGTCACAGGCAGTCATCA	0.393																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1984-1986)gcC>gcA		phosphodiesterase 10A	Dipyridamole(DB00975)						126.0	116.0	120.0					6																	165756961		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165756961G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1986C>A	6.37:g.165756961G>T						PDE10A_ENST00000539869.2_Silent_p.A672A|PDE10A_ENST00000354448.4_Silent_p.A662A	p.A662A			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	20	2140	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	662					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1986C>A																																																																																					0.393	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			26	35	1	0	3.65163e-15	1	3.99483e-15	26	35				
ARHGAP44	9912	broad.mit.edu	37	17	12847434	12847434	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:12847434T>G	ENST00000379672.5	+	10	1082	c.782T>G	c.(781-783)cTc>cGc	p.L261R	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L261R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L261R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	261	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGGAGCACCTCACCATCAGC	0.597																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(781-783)cTc>cGc		Rho GTPase activating protein 44							40.0	48.0	46.0					17																	12847434		2069	4209	6278	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847434T>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.782T>G	17.37:g.12847434T>G	ENSP00000368994:p.Leu261Arg					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L261R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L261R	p.L261R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			10	1082	+			261			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.782T>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658966	0.47467	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.38240	1.15;1.15	5.57	5.57	0.84162	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.68339	0.2990	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.76780	-0.2833	10	0.87932	D	0	.	13.9692	0.64228	0.0:0.0:0.0:1.0	.	261;261	A6NCP5;Q17R89	.;RHG44_HUMAN	R	261	ENSP00000368994:L261R;ENSP00000342566:L261R	ENSP00000342566:L261R	L	+	2	0	ARHGAP44	12788159	1.000000	0.71417	0.663000	0.29738	0.975000	0.68041	7.997000	0.88414	2.244000	0.73946	0.533000	0.62120	CTC		0.597	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		5	19	0	0	0	1	0	5	19				
CDH26	60437	broad.mit.edu	37	20	58562618	58562618	+	Silent	SNP	G	G	A	rs367871268		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58562618G>A	ENST00000244047.5	+	8	1259	c.948G>A	c.(946-948)ttG>ttA	p.L316L	CDH26_ENST00000348616.4_Silent_p.L316L			Q8IXH8	CAD26_HUMAN	cadherin 26	316	Cadherin 3. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCAACATATTGCATGGCAATG	0.463																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(946-948)ttG>ttA		cadherin 26		G		0,4406		0,0,2203	121.0	98.0	106.0		948	-7.0	0.0	20		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH26	NM_177980.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		316/833	58562618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562618G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.948G>A	20.37:g.58562618G>A						CDH26_ENST00000244047.5_Silent_p.L316L	p.L316L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1248	+	all_lung(29;0.00963)		316			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.948G>A																																																																																					0.463	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		27	40	0	0	0	1	0	27	40				
WNK3	65267	broad.mit.edu	37	X	54359609	54359609	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:54359609G>A	ENST00000375159.2	-	1	497	c.498C>T	c.(496-498)gaC>gaT	p.D166D	WNK3_ENST00000354646.2_Silent_p.D166D|WNK3_ENST00000375169.3_Silent_p.D166D			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATGTTTCAGTGTCCAGTCCTT	0.408																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(496-498)gaC>gaT		WNK lysine deficient protein kinase 3							135.0	122.0	127.0					X																	54359609		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359609G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.498C>T	X.37:g.54359609G>A						WNK3_ENST00000375159.2_Silent_p.D166D|WNK3_ENST00000375169.3_Silent_p.D166D	p.D166D	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			2	936	-			166			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.498C>T	CCDS14357.1																																																																																				0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	49	0	0	0	1	0	5	49				
ZSCAN30	100101467	broad.mit.edu	37	18	32844160	32844160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:32844160G>A	ENST00000420878.3	-	3	612	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000333206.5_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000383091.2_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000589178.1_Nonsense_Mutation_p.Q53*	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						TAACTAAACTGCCTGAACTTC	0.532																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(157-159)Cag>Tag		zinc finger and SCAN domain containing 30							56.0	58.0	57.0					18																	32844160		1568	3582	5150	SO:0001587	stop_gained	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32844160G>A	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.157C>T	18.37:g.32844160G>A	ENSP00000392371:p.Gln53*					ZSCAN30_ENST00000592278.1_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000589178.1_Nonsense_Mutation_p.Q53*|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Nonsense_Mutation_p.Q53*|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000383091.2_Nonsense_Mutation_p.Q53*	p.Q53*	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			3	612	-			53			SCAN box.		B4E0N0|Q6ZNB3|Q96PN3	Nonsense_Mutation	SNP	ENST00000420878.3	37	c.157C>T	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	G	37	6.492584	0.97612	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932;ENST00000383091	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	12.8813	0.58017	0.0:0.0:1.0:0.0	.	.	.	.	X	53;53;10;53	.	ENSP00000329738:Q53X	Q	-	1	0	ZSCAN30	31098158	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	0.950000	0.29122	2.499000	0.84300	0.637000	0.83480	CAG		0.532	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		8	35	0	0	0	1	0	8	35				
LSM14B	149986	broad.mit.edu	37	20	60701437	60701437	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:60701437C>T	ENST00000279068.6	+	3	529	c.369C>T	c.(367-369)taC>taT	p.Y123Y	LSM14B_ENST00000253001.4_Silent_p.Y123Y|LSM14B_ENST00000370915.1_Silent_p.Y123Y	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	123					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TGGCGCCCTACGGCCCGCTGG	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(367-369)taC>taT		LSM14B, SCD6 homolog B (S. cerevisiae)							45.0	47.0	46.0					20																	60701437		2046	4178	6224	SO:0001819	synonymous_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701437C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.369C>T	20.37:g.60701437C>T						LSM14B_ENST00000279068.6_Silent_p.Y123Y|LSM14B_ENST00000370915.1_Silent_p.Y123Y	p.Y123Y			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	575	+	Breast(26;3.97e-09)		123					Q6PFW8|Q96LH8	Silent	SNP	ENST00000279068.6	37	c.369C>T	CCDS46626.1																																																																																				0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	18	0	0	0	1	0	8	18				
NDUFA13	51079	broad.mit.edu	37	19	19625556	19625556	+	5'Flank	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:19625556G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.G227G|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000585580.3_Silent_p.G227G|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GATAGAGCACGCCGCGTTTCT	0.692																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(679-681)ggC>ggT		testis-specific serine kinase 6							34.0	35.0	35.0					19																	19625556		2198	4293	6491	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625556G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625556G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.G227G	p.G227G			Q9BXA6	TSSK6_HUMAN			1	1282	-			227			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.681C>T	CCDS12404.2																																																																																				0.692	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		9	51	0	0	0	1	0	9	51				
ZNF418	147686	broad.mit.edu	37	19	58438297	58438297	+	Nonsense_Mutation	SNP	G	G	A	rs572586331		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58438297G>A	ENST00000396147.1	-	4	1543	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.R333*|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.R439*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.R418*	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTGTGACCTCGCTGATGGTTC	0.468																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1252-1254)Cga>Tga		zinc finger protein 418							158.0	162.0	161.0					19																	58438297		2203	4300	6503	SO:0001587	stop_gained	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438297G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1252C>T	19.37:g.58438297G>A	ENSP00000379451:p.Arg418*					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.R333*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.R439*|ZNF418_ENST00000595830.1_Nonsense_Mutation_p.R418*	p.R418*	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1543	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	418					Q2M1S2|Q670L5|Q96N18	Nonsense_Mutation	SNP	ENST00000396147.1	37	c.1252C>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	42	9.345644	0.99143	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	.	.	.	2.36	-0.401	0.12407	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1129	0.30924	0.0:0.0:0.4021:0.5979	.	.	.	.	X	418;439;384	.	ENSP00000379451:R418X	R	-	1	2	ZNF418	63130109	0.000000	0.05858	0.011000	0.14972	0.872000	0.50106	-1.812000	0.01726	-0.261000	0.09405	-0.898000	0.02899	CGA		0.468	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		47	95	0	0	0	1	0	47	95				
USP32	84669	broad.mit.edu	37	17	58275733	58275733	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:58275733G>A	ENST00000300896.4	-	27	3516	c.3322C>T	c.(3322-3324)Cca>Tca	p.P1108S	USP32_ENST00000592339.1_Missense_Mutation_p.P778S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1108	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACAGTACATGGAACAATCAAT	0.458																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3322-3324)Cca>Tca		ubiquitin specific peptidase 32							168.0	152.0	157.0					17																	58275733		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58275733G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3322C>T	17.37:g.58275733G>A	ENSP00000300896:p.Pro1108Ser					USP32_ENST00000592339.1_Missense_Mutation_p.P778S	p.P1108S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		27	3516	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1108					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3322C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913906	0.92178	.	.	ENSG00000170832	ENST00000300896	T	0.46451	0.87	5.01	5.01	0.66863	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	N	0.21282	0.65	0.80722	D	1	P	0.40282	0.711	P	0.47134	0.539	T	0.10613	-1.0622	10	0.19590	T	0.45	.	18.3007	0.90163	0.0:0.0:1.0:0.0	.	1108	Q8NFA0	UBP32_HUMAN	S	1108	ENSP00000300896:P1108S	ENSP00000300896:P1108S	P	-	1	0	USP32	55630515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.761000	0.98940	2.289000	0.77006	0.561000	0.74099	CCA		0.458	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		34	44	0	0	0	1	0	34	44				
SNTA1	6640	broad.mit.edu	37	20	31998065	31998065	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31998065G>A	ENST00000217381.2	-	6	1384	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	371	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CGTGACGCGTGCCCGTGCGCA	0.672																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(1111-1113)ggC>ggT		syntrophin, alpha 1							36.0	31.0	33.0					20																	31998065		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31998065G>A	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1113C>T	20.37:g.31998065G>A							p.G371G	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			6	1384	-			371			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.1113C>T	CCDS13220.1																																																																																				0.672	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		9	7	0	0	0	1	0	9	7				
KCNH6	81033	broad.mit.edu	37	17	61601658	61601658	+	Missense_Mutation	SNP	G	G	A	rs372365847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61601658G>A	ENST00000583023.1	+	2	246	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	KCNH6_ENST00000580652.1_Missense_Mutation_p.V79M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V79M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V79M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V79M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	79					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGCAGCGCCGTGTCCCGCCT	0.627																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(235-237)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	85.0	75.0	79.0		235,235	2.0	1.0	17		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	79/995,79/906	61601658	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601658G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.235G>A	17.37:g.61601658G>A	ENSP00000463533:p.Val79Met					KCNH6_ENST00000314672.5_Missense_Mutation_p.V79M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V79M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V79M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V79M	p.V79M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			2	246	+			79					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.235G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	4.730	0.135717	0.09032	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99656	-6.31;-6.31	5.34	2.02	0.26589	PAS fold (1);	0.494387	0.16488	N	0.212236	D	0.98337	0.9448	M	0.72894	2.215	0.31372	N	0.68011	B;B;B	0.19331	0.02;0.035;0.025	B;B;B	0.18561	0.016;0.022;0.01	D	0.98839	1.0754	10	0.17369	T	0.5	.	6.7862	0.23675	0.5941:0.0:0.4059:0.0	.	79;79;79	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	M	79	ENSP00000318212:V79M;ENSP00000396900:V79M	ENSP00000318212:V79M	V	+	1	0	KCNH6	58955390	0.433000	0.25562	0.990000	0.47175	0.259000	0.26198	0.857000	0.27831	0.454000	0.26884	0.561000	0.74099	GTG		0.627	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		30	42	0	0	0	1	0	30	42				
OR6C3	254786	broad.mit.edu	37	12	55726304	55726304	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:55726304C>T	ENST00000379667.1	+	1	820	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	274					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATAGCTATTCTCAATACATC	0.378																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(820-822)Ctc>Ttc		olfactory receptor, family 6, subfamily C, member 3							89.0	87.0	88.0					12																	55726304		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726304C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.820C>T	12.37:g.55726304C>T	ENSP00000368989:p.Leu274Phe						p.L274F	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	820	+			274						Missense_Mutation	SNP	ENST00000379667.1	37	c.820C>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490049	0.26686	.	.	ENSG00000205329	ENST00000379667	T	0.00174	8.62	5.13	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000595	T	0.00210	0.0006	L	0.31207	0.915	0.09310	N	1	B	0.28850	0.225	B	0.41202	0.35	T	0.32719	-0.9896	10	0.62326	D	0.03	.	9.5885	0.39532	0.1441:0.7811:0.0:0.0748	.	274	Q9NZP0	OR6C3_HUMAN	F	274	ENSP00000368989:L274F	ENSP00000368989:L274F	L	+	1	0	OR6C3	54012571	0.000000	0.05858	0.890000	0.34922	0.192000	0.23643	-0.459000	0.06728	1.500000	0.48636	0.650000	0.86243	CTC		0.378	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			23	31	0	0	0	1	0	23	31				
SMC2	10592	broad.mit.edu	37	9	106901465	106901465	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:106901465G>A	ENST00000286398.7	+	25	3751	c.3463G>A	c.(3463-3465)Gtt>Att	p.V1155I	SMC2_ENST00000374793.3_Missense_Mutation_p.V1155I|SMC2_ENST00000374787.3_Missense_Mutation_p.V1155I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1155					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAATGCAAACGTTCTTTTCAA	0.313																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3463-3465)Gtt>Att		structural maintenance of chromosomes 2							93.0	92.0	92.0					9																	106901465		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106901465G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3463G>A	9.37:g.106901465G>A	ENSP00000286398:p.Val1155Ile					SMC2_ENST00000374787.3_Missense_Mutation_p.V1155I|SMC2_ENST00000374793.3_Missense_Mutation_p.V1155I	p.V1155I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			25	3751	+			1155					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3463G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218731	0.95104	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000374787	T;T;T	0.67865	-0.29;-0.29;-0.29	5.46	5.46	0.80206	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.83822	0.0247	10	0.59425	D	0.04	-16.8573	18.0421	0.89322	0.0:0.0:1.0:0.0	.	1155	O95347	SMC2_HUMAN	I	1155	ENSP00000286398:V1155I;ENSP00000363925:V1155I;ENSP00000363919:V1155I	ENSP00000286398:V1155I	V	+	1	0	SMC2	105941286	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.543000	0.98089	2.838000	0.97847	0.591000	0.81541	GTT		0.313	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			23	26	0	0	0	1	0	23	26				
PLXNA4	91584	broad.mit.edu	37	7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T	rs201451359		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:131866933C>T	ENST00000359827.3	-	17	4137	c.3175G>A	c.(3175-3177)Gcc>Acc	p.A1059T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T			Q9HCM2	PLXA4_HUMAN	plexin A4	1059	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1059T(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCATACGGCGATGGGTGTG	0.507																																						ENST00000359827.3																			4	Substitution - Missense(4)	p.A1059T(4)	large_intestine(2)|lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3175-3177)Gcc>Acc		plexin A4		C	THR/ALA	0,3896		0,0,1948	121.0	124.0	123.0		3175	4.6	0.9	7		123	2,8296		0,2,4147	yes	missense	PLXNA4	NM_020911.1	58	0,2,6095	TT,TC,CC		0.0241,0.0,0.0164	benign	1059/1895	131866933	2,12192	1948	4149	6097	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866933C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3175G>A	7.37:g.131866933C>T	ENSP00000352882:p.Ala1059Thr					PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T	p.A1059T			Q9HCM2	PLXA4_HUMAN			17	4137	-			1059			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3175G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.922126	0.02396	0.0	2.41E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.66638	-0.22;-0.22	5.43	4.56	0.56223	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.290065	0.38272	N	0.001757	T	0.21145	0.0509	N	0.00151	-1.98	0.32288	N	0.566674	B	0.02656	0.0	B	0.04013	0.001	T	0.36311	-0.9753	10	0.02654	T	1	.	6.4352	0.21819	0.1474:0.7029:0.0:0.1497	.	1059	Q9HCM2	PLXA4_HUMAN	T	1059	ENSP00000323194:A1059T;ENSP00000352882:A1059T	ENSP00000323194:A1059T	A	-	1	0	PLXNA4	131517473	0.079000	0.21365	0.920000	0.36463	0.179000	0.23085	0.642000	0.24735	1.304000	0.44892	0.561000	0.74099	GCC		0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		12	26	0	0	0	1	0	12	26				
SLC2A10	81031	broad.mit.edu	37	20	45355587	45355587	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:45355587C>A	ENST00000359271.2	+	3	1623	c.1373C>A	c.(1372-1374)gCc>gAc	p.A458D		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	458					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AACTGGGCGGCCAACCTCTTC	0.542																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1372-1374)gCc>gAc		solute carrier family 2 (facilitated glucose transporter), member 10							161.0	148.0	153.0					20																	45355587		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45355587C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1373C>A	20.37:g.45355587C>A	ENSP00000352216:p.Ala458Asp						p.A458D	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			3	1623	+		Myeloproliferative disorder(115;0.0122)	458					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1373C>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573232	0.65765	.	.	ENSG00000197496	ENST00000359271	D	0.82526	-1.62	5.8	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.277093	0.39834	N	0.001247	D	0.92244	0.7540	M	0.93106	3.38	0.43863	D	0.996469	D	0.56968	0.978	D	0.63283	0.913	D	0.92621	0.6108	10	0.34782	T	0.22	-12.7805	16.7486	0.85479	0.0:0.8636:0.1364:0.0	.	458	O95528	GTR10_HUMAN	D	458	ENSP00000352216:A458D	ENSP00000352216:A458D	A	+	2	0	SLC2A10	44788994	0.295000	0.24389	0.885000	0.34714	0.532000	0.34746	1.960000	0.40422	1.436000	0.47453	0.467000	0.42956	GCC		0.542	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			44	53	1	0	2.59497e-14	1	2.8301e-14	44	53				
SRMS	6725	broad.mit.edu	37	20	62172602	62172602	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:62172602G>T	ENST00000217188.1	-	7	1267	c.1227C>A	c.(1225-1227)gtC>gtA	p.V409V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGAAGGACCAGACGTCTGACT	0.607																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1225-1227)gtC>gtA		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							98.0	103.0	101.0					20																	62172602		2203	4300	6503	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172602G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1227C>A	20.37:g.62172602G>T							p.V409V	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1267	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		409			Protein kinase.			Silent	SNP	ENST00000217188.1	37	c.1227C>A	CCDS13525.1																																																																																				0.607	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		31	52	1	0	3.99451e-17	1	4.39387e-17	31	52				
MRPL45	84311	broad.mit.edu	37	17	36455359	36455359	+	Missense_Mutation	SNP	G	G	A	rs201673456	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36455359G>A	ENST00000312513.5	+	3	448	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	96						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGATGCACGCATATCATCT	0.383													G|||	6	0.00119808	0.0	0.0	5008	,	,		18612	0.0		0.002	False		,,,				2504	0.0041					ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(286-288)cGc>cAc		mitochondrial ribosomal protein L45							93.0	88.0	90.0					17																	36455359		2203	4300	6503	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36455359G>A	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.287G>A	17.37:g.36455359G>A	ENSP00000308901:p.Arg96His						p.R96H	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			3	448	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	96					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.287G>A	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034064	0.35893	.	.	ENSG00000174100	ENST00000312513	T	0.32988	1.43	4.45	4.45	0.53987	.	0.053401	0.85682	D	0.000000	T	0.30135	0.0755	M	0.75264	2.295	0.51233	D	0.999916	P	0.44946	0.846	B	0.30251	0.113	T	0.44034	-0.9354	10	0.59425	D	0.04	-8.6564	15.0341	0.71731	0.0:0.0:1.0:0.0	.	96	Q9BRJ2	RM45_HUMAN	H	96	ENSP00000308901:R96H	ENSP00000308901:R96H	R	+	2	0	MRPL45	33708877	1.000000	0.71417	0.621000	0.29145	0.204000	0.24138	7.013000	0.76373	2.299000	0.77371	0.407000	0.27541	CGC		0.383	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		43	49	0	0	0	1	0	43	49				
LENG8	114823	broad.mit.edu	37	19	54969333	54969333	+	Missense_Mutation	SNP	G	G	A	rs368155889		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54969333G>A	ENST00000326764.5	+	14	2433	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	615										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GTCGCTGTACGCCGAGAACTT	0.577																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1954-1956)Gcc>Acc		leukocyte receptor cluster (LRC) member 8		G	THR/ALA	0,4406		0,0,2203	102.0	96.0	98.0		1954	5.2	0.2	19		98	2,8598	2.2+/-6.3	0,2,4298	no	missense	LENG8	NM_052925.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	652/801	54969333	2,13004	2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969333G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1954G>A	19.37:g.54969333G>A	ENSP00000318374:p.Ala652Thr					LENG8_ENST00000376514.2_Intron	p.A652T	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2433	+	Ovarian(34;0.19)		615					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1954G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208632	0.39003	0.0	2.33E-4	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.32272	1.46;1.46;1.46	5.16	5.16	0.70880	.	0.135259	0.50627	D	0.000102	T	0.28400	0.0702	L	0.45581	1.43	0.80722	D	1	P;P	0.37781	0.608;0.588	B;B	0.33620	0.167;0.167	T	0.04708	-1.0932	10	0.38643	T	0.18	-20.2089	16.5215	0.84318	0.0:0.0:1.0:0.0	.	652;615	Q96PV6-2;F8W9Q9	.;.	T	652;615;615;652	ENSP00000318374:A652T;ENSP00000365709:A615T;ENSP00000388053:A652T	ENSP00000301196:A615T	A	+	1	0	LENG8	59661145	0.999000	0.42202	0.246000	0.24233	0.121000	0.20230	4.187000	0.58344	2.582000	0.87167	0.561000	0.74099	GCC		0.577	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		11	50	0	0	0	1	0	11	50				
FHOD1	29109	broad.mit.edu	37	16	67263726	67263726	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67263726G>A	ENST00000258201.4	-	21	3629	c.3382C>T	c.(3382-3384)Cgc>Tgc	p.R1128C	LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000462169.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1128	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACGCTTGCGTTCCCTAGCA	0.572																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3382-3384)Cgc>Tgc		formin homology 2 domain containing 1							82.0	85.0	84.0					16																	67263726		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67263726G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3382C>T	16.37:g.67263726G>A	ENSP00000258201:p.Arg1128Cys					FHOD1_ENST00000567687.1_Missense_Mutation_p.R707C	p.R1128C	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	21	3629	-		Ovarian(137;0.0563)	1128					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3382C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326499	0.60743	.	.	ENSG00000135723	ENST00000258201	T	0.57436	0.4	5.22	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79351	-0.1839	10	0.87932	D	0	.	12.7025	0.57041	0.0:0.0:0.8004:0.1996	.	1128	Q9Y613	FHOD1_HUMAN	C	1128	ENSP00000258201:R1128C	ENSP00000258201:R1128C	R	-	1	0	FHOD1	65821227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	1.340000	0.45581	0.655000	0.94253	CGC		0.572	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			33	50	0	0	0	1	0	33	50				
FCRL5	83416	broad.mit.edu	37	1	157504575	157504575	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:157504575G>T	ENST00000361835.3	-	8	1667	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	FCRL5_ENST00000368189.3_Missense_Mutation_p.L504I|FCRL5_ENST00000356953.4_Missense_Mutation_p.L504I|FCRL5_ENST00000368190.3_Missense_Mutation_p.L504I|FCRL5_ENST00000368191.3_Missense_Mutation_p.L419I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	504	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AACTGGTATAGGATTTGTGGG	0.522																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1510-1512)Cta>Ata		Fc receptor-like 5							59.0	57.0	58.0					1																	157504575		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504575G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1510C>A	1.37:g.157504575G>T	ENSP00000354691:p.Leu504Ile					FCRL5_ENST00000368189.3_Missense_Mutation_p.L504I|FCRL5_ENST00000368191.3_Missense_Mutation_p.L419I|FCRL5_ENST00000356953.4_Missense_Mutation_p.L504I|FCRL5_ENST00000368190.3_Missense_Mutation_p.L504I	p.L504I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1667	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	504			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1510C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464888	0.26335	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	3.54	-1.92	0.07618	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17066	0.0410	M	0.85197	2.74	0.09310	N	1	D;P;D;D;D;D	0.76494	0.999;0.878;0.959;0.985;0.97;0.993	D;B;P;P;P;P	0.74674	0.984;0.441;0.835;0.884;0.878;0.884	T	0.04509	-1.0946	9	0.37606	T	0.19	.	4.0991	0.10005	0.4961:0.1896:0.3142:0.0	.	535;419;504;504;504;504	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	504;504;504;419;504	ENSP00000354691:L504I;ENSP00000349434:L504I;ENSP00000357173:L504I;ENSP00000357174:L419I;ENSP00000357172:L504I	ENSP00000349434:L504I	L	-	1	2	FCRL5	155771199	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.621000	0.05559	-0.257000	0.09459	-0.656000	0.03901	CTA		0.522	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		14	16	1	0	0.00244969	1	0.00248438	14	16				
MED23	9439	broad.mit.edu	37	6	131921245	131921245	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:131921245G>A	ENST00000368068.3	-	18	2332	c.2153C>T	c.(2152-2154)aCc>aTc	p.T718I	MED23_ENST00000368053.4_Missense_Mutation_p.T724I|MED23_ENST00000368058.1_Missense_Mutation_p.T724I|MED23_ENST00000354577.4_Missense_Mutation_p.T724I|MED23_ENST00000545957.1_Missense_Mutation_p.T359I|MED23_ENST00000540546.1_Missense_Mutation_p.T724I|MED23_ENST00000368060.3_Missense_Mutation_p.T718I|MED23_ENST00000403834.3_Missense_Mutation_p.T724I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	718					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTCATGATGGTCTGAAGTAT	0.363																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2170-2172)aCc>aTc		mediator complex subunit 23							102.0	100.0	101.0					6																	131921245		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131921245G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2153C>T	6.37:g.131921245G>A	ENSP00000357047:p.Thr718Ile					MED23_ENST00000368060.3_Missense_Mutation_p.T718I|MED23_ENST00000368068.3_Missense_Mutation_p.T718I|MED23_ENST00000368053.4_Missense_Mutation_p.T724I|MED23_ENST00000354577.4_Missense_Mutation_p.T724I|MED23_ENST00000545957.1_Missense_Mutation_p.T359I|MED23_ENST00000540546.1_Missense_Mutation_p.T724I|MED23_ENST00000368058.1_Missense_Mutation_p.T724I	p.T724I			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	18	2344	-	Breast(56;0.0753)		718					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2171C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335034	0.81801	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.69	4.82	0.62117	.	0.092481	0.85682	D	0.000000	T	0.71913	0.3396	L	0.38175	1.15	0.80722	D	1	P;B;P;P	0.50443	0.935;0.403;0.869;0.841	P;B;P;P	0.53102	0.718;0.112;0.643;0.51	T	0.75852	-0.3171	10	0.54805	T	0.06	-1.0867	15.9933	0.80223	0.0:0.0:0.8642:0.1358	.	359;724;718;724	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	I	724;718;724;718;107;724;359;724;724	ENSP00000346588:T724I;ENSP00000357047:T718I;ENSP00000384536:T724I;ENSP00000357039:T718I;ENSP00000357037:T724I;ENSP00000439977:T359I;ENSP00000357032:T724I;ENSP00000437818:T724I	ENSP00000346588:T724I	T	-	2	0	MED23	131962938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.380000	0.46344	0.655000	0.94253	ACC		0.363	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			15	19	0	0	0	1	0	15	19				
NAIF1	203245	broad.mit.edu	37	9	130829094	130829094	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130829094G>A	ENST00000373078.4	-	1	506	c.287C>T	c.(286-288)cCg>cTg	p.P96L	SLC25A25_ENST00000373068.2_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|NAIF1_ENST00000488519.1_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	96	Gly-rich.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTGGGCCCCGGCGCCTCACC	0.687																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(286-288)cCg>cTg		nuclear apoptosis inducing factor 1							34.0	36.0	35.0					9																	130829094		2202	4298	6500	SO:0001583	missense	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130829094G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.287C>T	9.37:g.130829094G>A	ENSP00000362170:p.Pro96Leu						p.P96L	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			1	506	-			96			Gly-rich.		B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	c.287C>T	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241410	0.39598	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.0	4.06	0.47325	.	0.168032	0.42053	D	0.000766	T	0.29620	0.0739	N	0.08118	0	0.39487	D	0.967973	B	0.30824	0.296	B	0.24155	0.051	T	0.32534	-0.9903	9	0.72032	D	0.01	-17.1532	10.7146	0.46005	0.0:0.0:0.6854:0.3146	.	96	Q69YI7	NAIF1_HUMAN	L	96	.	ENSP00000362170:P96L	P	-	2	0	NAIF1	129868915	1.000000	0.71417	0.997000	0.53966	0.535000	0.34838	1.505000	0.35736	2.607000	0.88179	0.655000	0.94253	CCG		0.687	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		5	43	0	0	0	1	0	5	43				
NGFR	4804	broad.mit.edu	37	17	47583668	47583668	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47583668G>A	ENST00000172229.3	+	3	341	c.216G>A	c.(214-216)acG>acA	p.T72T	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	72					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGGCGTGACGTTCTCCGACG	0.677																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(214-216)acG>acA		nerve growth factor receptor							25.0	29.0	28.0					17																	47583668		2195	4281	6476	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583668G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.216G>A	17.37:g.47583668G>A						RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	p.T72T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	341	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		72					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.216G>A	CCDS11549.1																																																																																				0.677	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			13	19	0	0	0	1	0	13	19				
RBPMS2	348093	broad.mit.edu	37	15	65041343	65041343	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65041343G>A	ENST00000300069.4	-	5	541	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGATCAAAGCGAATACCCTAC	0.498																																						ENST00000300069.4																			0				breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.(274-276)Cgc>Tgc		RNA binding protein with multiple splicing 2							140.0	129.0	133.0					15																	65041343		2202	4299	6501	SO:0001583	missense	348093						nucleic acid binding|nucleotide binding	g.chr15:65041343G>A	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.274C>T	15.37:g.65041343G>A	ENSP00000300069:p.Arg92Cys					RBPMS2_ENST00000560606.1_5'UTR	p.R92C	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN			5	541	-			92			RRM.		A2RRG0	Missense_Mutation	SNP	ENST00000300069.4	37	c.274C>T	CCDS32271.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508186	0.64410	.	.	ENSG00000166831	ENST00000300069	T	0.16457	2.34	5.08	5.08	0.68730	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.41251	-0.9519	10	0.87932	D	0	-5.5714	17.447	0.87580	0.0:0.0:1.0:0.0	.	92	Q6ZRY4	RBPS2_HUMAN	C	92	ENSP00000300069:R92C	ENSP00000300069:R92C	R	-	1	0	RBPMS2	62828396	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	8.005000	0.88553	2.524000	0.85096	0.563000	0.77884	CGC		0.498	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1			12	62	0	0	0	1	0	12	62				
KMT2C	58508	broad.mit.edu	37	7	151874059	151874059	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:151874059G>A	ENST00000262189.6	-	38	8697	c.8479C>T	c.(8479-8481)Ctg>Ttg	p.L2827L	KMT2C_ENST00000355193.2_Silent_p.L2827L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2827					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGGAGACAGTACTTCCGTT	0.363																																						ENST00000355193.2																			0											c.(8479-8481)Ctg>Ttg		lysine (K)-specific methyltransferase 2C							136.0	134.0	134.0					7																	151874059		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151874059G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8479C>T	7.37:g.151874059G>A						KMT2C_ENST00000262189.6_Silent_p.L2827L	p.L2827L							38	8697	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.8479C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230322	0.00280	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.58	0.309	0.15820	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	2.2228	0.03977	0.2527:0.0989:0.4516:0.1968	.	.	.	.	I	332	.	.	T	-	2	0	MLL3	151504992	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.014000	0.13333	-0.155000	0.11098	-0.813000	0.03139	ACT		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			32	66	0	0	0	1	0	32	66				
TARS2	80222	broad.mit.edu	37	1	150464910	150464910	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150464910G>A	ENST00000369064.3	+	7	753	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Missense_Mutation_p.C240Y|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	240					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTTGACCTTTGCCAGGGCCCC	0.488																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(718-720)tGc>tAc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						145.0	146.0	146.0					1																	150464910		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150464910G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.719G>A	1.37:g.150464910G>A	ENSP00000358060:p.Cys240Tyr					TARS2_ENST00000606933.1_Missense_Mutation_p.C240Y|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000463555.1_3'UTR	p.C240Y	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	753	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		240					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.719G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105457	0.77096	.	.	ENSG00000143374	ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.29	4.38	0.52667	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.057157	0.64402	D	0.000001	D	0.84028	0.5382	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.88965	0.3396	9	0.87932	D	0	-13.9248	13.0108	0.58729	0.0789:0.0:0.9211:0.0	.	47;240	E7EVR9;Q9BW92	.;SYTM_HUMAN	Y	240;47;47	.	ENSP00000358047:C47Y	C	+	2	0	TARS2	148731534	1.000000	0.71417	0.935000	0.37517	0.975000	0.68041	7.907000	0.87430	1.478000	0.48253	0.650000	0.86243	TGC		0.488	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		29	48	0	0	0	1	0	29	48				
FPGS	2356	broad.mit.edu	37	9	130570836	130570836	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130570836G>A	ENST00000373247.2	+	10	872		c.e10-1		FPGS_ENST00000373225.3_Splice_Site|FPGS_ENST00000460181.1_Splice_Site|FPGS_ENST00000393706.2_Splice_Site|FPGS_ENST00000373245.1_Intron	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase						brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GTCTCCCCTAGTGTCCTCTAT	0.687																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.e10-1		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						17.0	17.0	17.0					9																	130570836		2202	4299	6501	SO:0001630	splice_region_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130570836G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.823-1G>A	9.37:g.130570836G>A						FPGS_ENST00000373247.2_Splice_Site|FPGS_ENST00000393706.2_Splice_Site|FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_Splice_Site		NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			10	881	+								B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Splice_Site	SNP	ENST00000373247.2	37		CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649399	0.67358	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4686	0.75422	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FPGS	129610657	1.000000	0.71417	0.996000	0.52242	0.816000	0.46133	8.866000	0.92307	2.450000	0.82876	0.462000	0.41574	.		0.687	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		Intron	4	12	0	0	0	1	0	4	12				
EPHA2	1969	broad.mit.edu	37	1	16461587	16461587	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16461587G>A	ENST00000358432.5	-	7	1680	c.1526C>T	c.(1525-1527)gCa>gTa	p.A509V		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTGCGTCAGTGCCTGCACCTG	0.657																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1525-1527)gCa>gTa		EPH receptor A2	Dasatinib(DB01254)						123.0	129.0	127.0					1																	16461587		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461587G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1526C>T	1.37:g.16461587G>A	ENSP00000351209:p.Ala509Val						p.A509V	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	7	1680	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	509			Fibronectin type-III 2.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1526C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469050	0.84533	.	.	ENSG00000142627	ENST00000358432	T	0.76060	-0.99	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000072	T	0.78013	0.4217	M	0.75615	2.305	0.80722	D	1	D	0.56035	0.974	P	0.45558	0.485	T	0.82400	-0.0476	10	0.87932	D	0	.	16.672	0.85269	0.0:0.0:1.0:0.0	.	509	P29317	EPHA2_HUMAN	V	509	ENSP00000351209:A509V	ENSP00000351209:A509V	A	-	2	0	EPHA2	16334174	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.754000	0.85163	2.539000	0.85634	0.655000	0.94253	GCA		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		51	67	0	0	0	1	0	51	67				
VASH1	22846	broad.mit.edu	37	14	77242591	77242591	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:77242591G>A	ENST00000167106.4	+	5	1520	c.887G>A	c.(886-888)cGc>cAc	p.R296H	VASH1_ENST00000554743.1_5'Flank|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	296					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GAGCTGGAGCGCCACGCCCGC	0.697																																						ENST00000167106.4																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(886-888)cGc>cAc		vasohibin 1							19.0	24.0	22.0					14																	77242591		2199	4293	6492	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77242591G>A	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.887G>A	14.37:g.77242591G>A	ENSP00000167106:p.Arg296His					VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	p.R296H	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1520	+			296					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.887G>A	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077978	0.94000	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.27	5.27	0.74061	.	0.048568	0.85682	D	0.000000	T	0.69780	0.3149	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.71718	-0.4508	9	0.62326	D	0.03	-14.435	12.2554	0.54621	0.078:0.0:0.922:0.0	.	296	Q7L8A9	VASH1_HUMAN	H	296	.	ENSP00000167106:R296H	R	+	2	0	VASH1	76312344	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	6.812000	0.75226	2.457000	0.83068	0.655000	0.94253	CGC		0.697	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		4	5	0	0	0	1	0	4	5				
CDC34	997	broad.mit.edu	37	19	537014	537014	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:537014A>G	ENST00000215574.4	+	4	582	c.364A>G	c.(364-366)Acc>Gcc	p.T122A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	122					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		TCCCCACAGGACCATTCTCCT	0.647																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.e4-1		cell division cycle 34							115.0	92.0	100.0					19																	537014		2203	4300	6503	SO:0001630	splice_region_variant	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537014A>G	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.363-1A>G	19.37:g.537014A>G							p.T122_splice	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	582	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)	122					A8K689	Splice_Site	SNP	ENST00000215574.4	37	c.362_splice	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347607	0.61183	.	.	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.05	5.05	0.67936	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.59912	1.85	0.80722	D	1	D	0.60160	0.987	D	0.66602	0.945	T	0.58200	-0.7678	10	0.87932	D	0	-17.4462	13.9841	0.64324	1.0:0.0:0.0:0.0	.	122	P49427	UB2R1_HUMAN	A	122	ENSP00000215574:T122A	ENSP00000215574:T122A	T	+	1	0	CDC34	488014	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	9.134000	0.94467	1.894000	0.54839	0.482000	0.46254	ACC		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359	Missense_Mutation	6	51	0	0	0	1	0	6	51				
B4GALNT3	283358	broad.mit.edu	37	12	662809	662809	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:662809C>T	ENST00000266383.5	+	14	1733	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	574					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGAGCAGAGACGGGGTGACAG	0.672																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1720-1722)Cgg>Tgg		beta-1,4-N-acetyl-galactosaminyl transferase 3							40.0	41.0	41.0					12																	662809		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662809C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1720C>T	12.37:g.662809C>T	ENSP00000266383:p.Arg574Trp						p.R574W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1733	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		574					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1720C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806156	0.16467	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.33865	3.42;1.39	5.63	-1.79	0.07932	.	0.522548	0.23435	N	0.048204	T	0.17789	0.0427	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.12156	0.007;0.003	T	0.07290	-1.0780	10	0.44086	T	0.13	-20.2686	1.9724	0.03409	0.2927:0.372:0.0894:0.2459	.	477;574	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	W	574;477	ENSP00000266383:R574W;ENSP00000322953:R477W	ENSP00000266383:R574W	R	+	1	2	B4GALNT3	533070	0.809000	0.29036	0.051000	0.19133	0.349000	0.29174	0.263000	0.18478	-0.529000	0.06358	-1.550000	0.00899	CGG		0.672	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		18	34	0	0	0	1	0	18	34				
DLG5	9231	broad.mit.edu	37	10	79581713	79581713	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79581713C>A	ENST00000372391.2	-	15	2534	c.2529G>T	c.(2527-2529)caG>caT	p.Q843H	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	843					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGATGTCTGTCTGCGTGGAGT	0.537																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2527-2529)caG>caT		discs, large homolog 5 (Drosophila)							129.0	128.0	128.0					10																	79581713		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581713C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2529G>T	10.37:g.79581713C>A	ENSP00000361467:p.Gln843His					DLG5_ENST00000372388.2_Intron	p.Q843H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2534	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		843					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2529G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538007	0.45176	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.06218	3.33	5.66	4.77	0.60923	.	0.000000	0.36972	N	0.002314	T	0.14270	0.0345	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.863	D;P	0.91635	0.999;0.615	T	0.06023	-1.0850	10	0.33940	T	0.23	.	11.649	0.51277	0.0:0.8577:0.0:0.1423	.	733;843	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	H	843;392	ENSP00000361467:Q843H	ENSP00000361467:Q843H	Q	-	3	2	DLG5	79251719	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	0.776000	0.26704	1.417000	0.47077	-0.192000	0.12808	CAG		0.537	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			16	40	1	0	1.33834e-09	1	1.42249e-09	16	40				
PPP1R9A	55607	broad.mit.edu	37	7	94750100	94750100	+	Silent	SNP	C	C	T	rs12216695		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:94750100C>T	ENST00000433881.1	+	4	2137	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PPP1R9A_ENST00000340694.4_Silent_p.F535F|PPP1R9A_ENST00000456331.2_Silent_p.F535F|PPP1R9A_ENST00000424654.1_Silent_p.F535F|PPP1R9A_ENST00000433360.1_Silent_p.F535F|PPP1R9A_ENST00000289495.5_Silent_p.F535F			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	535	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGGGAATATTCGTCAAGACAG	0.398										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1603-1605)ttC>ttT		protein phosphatase 1, regulatory subunit 9A							158.0	152.0	154.0					7																	94750100		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94750100C>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1605C>T	7.37:g.94750100C>T		HNSCC(28;0.073)				PPP1R9A_ENST00000340694.4_Silent_p.F535F|PPP1R9A_ENST00000456331.2_Silent_p.F535F|PPP1R9A_ENST00000424654.1_Silent_p.F535F|PPP1R9A_ENST00000433881.1_Silent_p.F535F|PPP1R9A_ENST00000433360.1_Silent_p.F535F	p.F535F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	1821	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		535			PDZ.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.1605C>T	CCDS34683.1																																																																																				0.398	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		42	66	0	0	0	1	0	42	66				
COL4A6	1288	broad.mit.edu	37	X	107402841	107402841	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107402841C>T	ENST00000372216.4	-	44	4766	c.4666G>A	c.(4666-4668)Gtc>Atc	p.V1556I	COL4A6_ENST00000538570.1_Missense_Mutation_p.V1498I|COL4A6_ENST00000334504.7_Missense_Mutation_p.V1555I|COL4A6_ENST00000394872.2_Missense_Mutation_p.V1556I|COL4A6_ENST00000418180.1_Missense_Mutation_p.V90I|COL4A6_ENST00000545689.1_Missense_Mutation_p.V1531I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1556	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCTGGCTGACGGGCATCATG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4663-4665)Gtc>Atc		collagen, type IV, alpha 6							126.0	105.0	112.0					X																	107402841		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402841C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4666G>A	X.37:g.107402841C>T	ENSP00000361290:p.Val1556Ile					COL4A6_ENST00000545689.1_Missense_Mutation_p.V1531I|COL4A6_ENST00000418180.1_Missense_Mutation_p.V90I|COL4A6_ENST00000538570.1_Missense_Mutation_p.V1498I|COL4A6_ENST00000372216.4_Missense_Mutation_p.V1556I|COL4A6_ENST00000394872.2_Missense_Mutation_p.V1556I	p.V1555I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			44	4896	-			1556			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4663G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926932	0.34002	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.06	3.15	0.36227	C-type lectin fold (1);	0.211929	0.23762	N	0.044812	T	0.75354	0.3838	L	0.53561	1.675	0.40071	D	0.976011	B;P;B;B;B	0.41041	0.116;0.736;0.116;0.141;0.193	B;B;B;B;B	0.35182	0.008;0.197;0.014;0.014;0.016	T	0.70332	-0.4901	10	0.31617	T	0.26	.	10.373	0.44066	0.0:0.8213:0.0:0.1787	.	1531;90;1498;1556;1555	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	I	90;1556;1555;1556;1543;1531;1498	ENSP00000406002:V90I;ENSP00000361290:V1556I;ENSP00000334733:V1555I;ENSP00000378340:V1556I;ENSP00000443707:V1531I;ENSP00000445236:V1498I	ENSP00000334733:V1555I	V	-	1	0	COL4A6	107289497	1.000000	0.71417	0.023000	0.16930	0.982000	0.71751	4.863000	0.62983	0.505000	0.28104	0.529000	0.55759	GTC		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			29	14	0	0	0	1	0	29	14				
ESYT3	83850	broad.mit.edu	37	3	138189867	138189867	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.e17+1		extended synaptotagmin-like protein 3							66.0	66.0	66.0					3																	138189867		1910	4133	6043	SO:0001630	splice_region_variant	83850					integral to membrane|plasma membrane		g.chr3:138189867G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1740+1G>A	3.37:g.138189867G>A							p.R580_splice	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			17	1925	+			580					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	SNP	ENST00000389567.4	37	c.1740_splice	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835369	0.91117	.	.	ENSG00000158220	ENST00000389567	T	0.72282	-0.64	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	D	0.82421	0.5033	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84130	0.0411	10	0.66056	D	0.02	-12.8714	13.0591	0.58997	0.0:0.0:1.0:0.0	.	580	A0FGR9	ESYT3_HUMAN	Q	580	ENSP00000374218:R580Q	ENSP00000374218:R580Q	R	+	2	0	ESYT3	139672557	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.357000	0.73051	2.447000	0.82792	0.561000	0.74099	CGG		0.592	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	Missense_Mutation	22	31	0	0	0	1	0	22	31				
OR5D18	219438	broad.mit.edu	37	11	55587828	55587828	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:55587828C>A	ENST00000333976.4	+	1	743	c.723C>A	c.(721-723)acC>acA	p.T241T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCTTCTCCACCTGTGCCTCCC	0.507																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(721-723)acC>acA		olfactory receptor, family 5, subfamily D, member 18							133.0	114.0	121.0					11																	55587828		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587828C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.723C>A	11.37:g.55587828C>A							p.T241T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	743	+		all_epithelial(135;0.208)	241					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.723C>A	CCDS31510.1																																																																																				0.507	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	57	1	0	1.45105e-14	1	1.58388e-14	17	57				
TTN	7273	broad.mit.edu	37	2	179591839	179591839	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179591839G>A	ENST00000591111.1	-	67	19526	c.19302C>T	c.(19300-19302)tgC>tgT	p.C6434C	TTN_ENST00000342992.6_Silent_p.C5507C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.C6751C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13201	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGTACTGCAGCTTGTGC	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20251-20253)tgC>tgT		titin							119.0	116.0	117.0					2																	179591839		1898	4121	6019	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591839G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19302C>T	2.37:g.179591839G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.C6434C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.C5507C|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.C6751C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20477	-			6434			Ig-like 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.20253C>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	57	0	0	0	1	0	36	57				
PTDSS1	9791	broad.mit.edu	37	8	97312002	97312002	+	Silent	SNP	C	C	T	rs375896685		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:97312002C>T	ENST00000517309.1	+	6	1007	c.681C>T	c.(679-681)ggC>ggT	p.G227G	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Silent_p.G81G|PTDSS1_ENST00000522072.1_Silent_p.G24G	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	227					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TGTGCAATGGCGGTGGCATTT	0.493																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(679-681)ggC>ggT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)	C		3,4403	6.2+/-15.9	0,3,2200	213.0	191.0	198.0		681	-10.3	0.0	8		198	0,8600		0,0,4300	no	coding-synonymous	PTDSS1	NM_014754.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		227/474	97312002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97312002C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.681C>T	8.37:g.97312002C>T						PTDSS1_ENST00000455950.2_Silent_p.G81G|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Silent_p.G24G	p.G227G	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			6	1007	+	Breast(36;6.18e-05)		227					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.681C>T	CCDS6271.1																																																																																				0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			12	97	0	0	0	1	0	12	97				
POLR3B	55703	broad.mit.edu	37	12	106827517	106827517	+	Nonsense_Mutation	SNP	C	C	T	rs267608688		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106827517C>T	ENST00000228347.4	+	16	1870	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.R492*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	550					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGTGTCATTCGAGACCACAA	0.323																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1648-1650)Cga>Tga		polymerase (RNA) III (DNA directed) polypeptide B							103.0	101.0	102.0					12																	106827517		2203	4300	6503	SO:0001587	stop_gained	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106827517C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1648C>T	12.37:g.106827517C>T	ENSP00000228347:p.Arg550*					POLR3B_ENST00000539066.1_Nonsense_Mutation_p.R492*	p.R550*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			16	1870	+			550					A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	ENST00000228347.4	37	c.1648C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700990	0.98441	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	6.03	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3506	15.5807	0.76432	0.252:0.748:0.0:0.0	.	.	.	.	X	550;550;492	.	ENSP00000228347:R550X	R	+	1	2	POLR3B	105351647	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.628000	0.37060	0.843000	0.35070	-0.152000	0.13540	CGA		0.323	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		15	61	0	0	0	1	0	15	61				
NOD2	64127	broad.mit.edu	37	16	50733610	50733610	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50733610G>T	ENST00000300589.2	+	2	390	c.285G>T	c.(283-285)aaG>aaT	p.K95N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	95	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTGGAATAAGGGTACTTGGG	0.657																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(283-285)aaG>aaT		nucleotide-binding oligomerization domain containing 2							36.0	40.0	39.0					16																	50733610		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733610G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.285G>T	16.37:g.50733610G>T	ENSP00000300589:p.Lys95Asn					NOD2_ENST00000526417.2_3'UTR	p.K95N	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	390	+		all_cancers(37;0.0156)	95			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.285G>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511196	0.44660	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.30714	1.52;1.52	5.11	-0.331	0.12679	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.53938	D	0.000051	T	0.44222	0.1283	L	0.59436	1.845	0.46981	D	0.999274	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.87932	D	0	.	7.555	0.27819	0.4654:0.0:0.5346:0.0	.	95	Q9HC29	NOD2_HUMAN	N	68;68;95	ENSP00000431681:K68N;ENSP00000300589:K95N	ENSP00000300589:K95N	K	+	3	2	NOD2	49291111	1.000000	0.71417	0.902000	0.35471	0.237000	0.25408	0.208000	0.17415	0.177000	0.19895	-0.218000	0.12543	AAG		0.657	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		12	26	1	0	2.68362e-12	1	2.90084e-12	12	26				
GSN	2934	broad.mit.edu	37	9	124094780	124094780	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:124094780G>T	ENST00000373818.4	+	17	2317	c.2248G>T	c.(2248-2250)Ggc>Tgc	p.G750C	GSN_ENST00000394353.2_Missense_Mutation_p.G710C|GSN_ENST00000373823.3_Missense_Mutation_p.G699C|GSN_ENST00000412819.1_Missense_Mutation_p.G699C|GSN_ENST00000436847.1_Missense_Mutation_p.G710C|GSN_ENST00000341272.2_Missense_Mutation_p.G699C|GSN_ENST00000545652.1_Missense_Mutation_p.G707C|GSN_ENST00000449733.1_Missense_Mutation_p.G699C|GSN_ENST00000373808.2_Missense_Mutation_p.G699C|GSN_ENST00000373806.1_Missense_Mutation_p.G175C	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	750	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGAAGCAAGGCTTTGAGCC	0.597											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(2095-2097)Ggc>Tgc		gelsolin							168.0	141.0	150.0					9																	124094780		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094780G>T	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2248G>T	9.37:g.124094780G>T	ENSP00000362924:p.Gly750Cys		OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000373818.4_Missense_Mutation_p.G750C|GSN_ENST00000545652.1_Missense_Mutation_p.G707C|GSN_ENST00000373808.2_Missense_Mutation_p.G699C|GSN_ENST00000412819.1_Missense_Mutation_p.G699C|GSN_ENST00000449733.1_Missense_Mutation_p.G699C|GSN_ENST00000373806.1_Missense_Mutation_p.G175C|GSN_ENST00000341272.2_Missense_Mutation_p.G699C|GSN_ENST00000436847.1_Missense_Mutation_p.G710C|GSN_ENST00000394353.2_Missense_Mutation_p.G710C	p.G699C			P06396	GELS_HUMAN			25	3000	+			750			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.2095G>T	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297183	0.95574	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.07	6.07	0.98685	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.998;0.994	D	0.86234	0.1639	10	0.87932	D	0	-34.6698	19.6475	0.95784	0.0:0.0:1.0:0.0	.	723;707;710;750	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	C	699;710;710;699;699;699;699;683;673;707;750;175;156	ENSP00000362929:G699C;ENSP00000411293:G710C;ENSP00000377882:G710C;ENSP00000409358:G699C;ENSP00000416586:G699C;ENSP00000340888:G699C;ENSP00000362914:G699C;ENSP00000445823:G707C;ENSP00000362924:G750C;ENSP00000362912:G175C	ENSP00000340888:G699C	G	+	1	0	GSN	123134601	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.434000	0.80377	2.885000	0.99019	0.655000	0.94253	GGC		0.597	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		13	17	1	0	0.00010058	1	0.000103117	13	17				
MIR200B	406984	broad.mit.edu	37	1	1102578	1102578	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:1102578G>A	ENST00000606993.1	+	0	0				MIR200A_ENST00000384875.1_RNA|MIR200B_ENST00000384997.1_RNA|MIR429_ENST00000362106.1_RNA																							AGCCCTGCACGCAGCGACCGG	0.711																																						ENST00000384997.1																			0																				32.0	31.0	31.0					1																	1102578		1559	3581	5140			0							g.chr1:1102578G>A																													1.37:g.1102578G>A								NR_029639.1						0	95	+									RNA	SNP	ENST00000606993.1	37																																																																																						0.711	RP11-465B22.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470776.1			4	3	0	0	0	1	0	4	3				
RNF216	54476	broad.mit.edu	37	7	5800647	5800647	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:5800647G>A	ENST00000425013.2	-	2	278	c.54C>T	c.(52-54)tgC>tgT	p.C18C	RNF216_ENST00000389902.3_Silent_p.C18C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	18					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTCCCCGATGGCAGTGAAAGT	0.378																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(52-54)tgC>tgT		ring finger protein 216							137.0	119.0	125.0					7																	5800647		2203	4297	6500	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5800647G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.54C>T	7.37:g.5800647G>A						RNF216_ENST00000389902.3_Silent_p.C18C	p.C18C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	2	278	-		Ovarian(82;0.07)	18					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.54C>T	CCDS34595.1																																																																																				0.378	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		25	45	0	0	0	1	0	25	45				
KAT6A	7994	broad.mit.edu	37	8	41801448	41801448	+	Silent	SNP	C	C	T	rs190790272		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41801448C>T	ENST00000396930.3	-	14	2589	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	KAT6A_ENST00000406337.1_Silent_p.P682P|KAT6A_ENST00000485568.1_Silent_p.P682P|KAT6A_ENST00000265713.2_Silent_p.P682P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	682	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATCAGATAACGGTTTCTCTG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		17715	0.001		0.0	False		,,,				2504	0.0					ENST00000396930.3																			0											c.(2044-2046)ccG>ccA		K(lysine) acetyltransferase 6A							123.0	105.0	111.0					8																	41801448		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41801448C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2046G>A	8.37:g.41801448C>T						KAT6A_ENST00000265713.2_Silent_p.P682P|KAT6A_ENST00000406337.1_Silent_p.P682P|KAT6A_ENST00000485568.1_Silent_p.P682P	p.P682P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			14	2589	-			682			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.2046G>A	CCDS6124.1																																																																																				0.393	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		35	71	0	0	0	1	0	35	71				
TJAP1	93643	broad.mit.edu	37	6	43469376	43469376	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:43469376C>T	ENST00000372445.5	+	6	617	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	TJAP1_ENST00000436109.2_Silent_p.L81L|TJAP1_ENST00000372449.1_Silent_p.L81L|TJAP1_ENST00000372444.2_Silent_p.L81L|TJAP1_ENST00000372452.1_Silent_p.L81L|TJAP1_ENST00000438588.2_Silent_p.L81L|TJAP1_ENST00000259751.1_Silent_p.L81L|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	81					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGCTGGAGCTGGGCCAGAG	0.602																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(241-243)Ctg>Ttg		tight junction associated protein 1 (peripheral)							31.0	33.0	32.0					6																	43469376		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43469376C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.241C>T	6.37:g.43469376C>T						TJAP1_ENST00000438588.2_Silent_p.L81L|TJAP1_ENST00000372445.5_Silent_p.L81L|TJAP1_ENST00000372449.1_Silent_p.L81L|TJAP1_ENST00000372452.1_Silent_p.L81L|TJAP1_ENST00000259751.1_Silent_p.L81L|TJAP1_ENST00000436109.2_Silent_p.L81L|TJAP1_ENST00000483640.1_3'UTR	p.L81L	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	674	+	all_lung(25;0.00536)		81					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.241C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291180	0.23564	.	.	ENSG00000137221	ENST00000454762	.	.	.	5.04	2.13	0.27403	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	-27.1416	7.2464	0.26124	0.0:0.618:0.0:0.382	.	.	.	.	V	38	.	.	A	+	2	0	TJAP1	43577354	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.565000	0.36386	0.123000	0.18342	0.449000	0.29647	GCT		0.602	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		9	18	0	0	0	1	0	9	18				
MCM3	4172	broad.mit.edu	37	6	52148119	52148119	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:52148119C>T	ENST00000229854.7	-	2	240	c.164G>A	c.(163-165)cGc>cAc	p.R55H	MCM3_ENST00000419835.2_Intron|MCM3_ENST00000596288.1_Missense_Mutation_p.R100H			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	55					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTTTTTCCTGCGCAGGTCATT	0.512																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(298-300)cGc>cAc		minichromosome maintenance complex component 3							240.0	195.0	210.0					6																	52148119		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52148119C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.164G>A	6.37:g.52148119C>T	ENSP00000229854:p.Arg55His					MCM3_ENST00000229854.7_Missense_Mutation_p.R55H|MCM3_ENST00000419835.2_Intron	p.R100H	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			2	326	-	Lung NSC(77;0.0931)		55					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.299G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.475522	0.96291	.	.	ENSG00000112118	ENST00000229854	T	0.12465	2.68	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);	0.048648	0.64402	D	0.000003	T	0.37544	0.1007	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.38735	-0.9647	10	0.49607	T	0.09	-5.808	18.2523	0.90007	0.0:1.0:0.0:0.0	.	55	P25205	MCM3_HUMAN	H	55	ENSP00000229854:R55H	ENSP00000229854:R55H	R	-	2	0	MCM3	52256078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.237000	0.78164	2.536000	0.85505	0.655000	0.94253	CGC		0.512	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			23	30	0	0	0	1	0	23	30				
TP53	7157	broad.mit.edu	37	17	7579442	7579442	+	Missense_Mutation	SNP	G	G	A	rs534447939		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7579442G>A	ENST00000269305.4	-	4	434	c.245C>T	c.(244-246)cCg>cTg	p.P82L	TP53_ENST00000359597.4_Missense_Mutation_p.P82L|TP53_ENST00000445888.2_Missense_Mutation_p.P82L|TP53_ENST00000455263.2_Missense_Mutation_p.P82L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P82L|TP53_ENST00000420246.2_Missense_Mutation_p.P82L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	82	Interaction with HRMT1L2.|Interaction with WWOX.		P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGCCGCCGGTGTAGGAGC	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		28	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(4)	p.0?(8)|p.P82L(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)	haematopoietic_and_lymphoid_tissue(9)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|salivary_gland(2)|lung(2)|breast(2)|large_intestine(1)|stomach(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM961375	TP53	M		c.(244-246)cCg>cTg	Other conserved DNA damage response genes	tumor protein p53							57.0	64.0	62.0					17																	7579442		2200	4300	6500	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579442G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.245C>T	17.37:g.7579442G>A	ENSP00000269305:p.Pro82Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.P82L|TP53_ENST00000455263.2_Missense_Mutation_p.P82L|TP53_ENST00000445888.2_Missense_Mutation_p.P82L|TP53_ENST00000413465.2_Missense_Mutation_p.P82L|TP53_ENST00000269305.4_Missense_Mutation_p.P82L	p.P82L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	377	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	82		P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.245C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917469	0.17982	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99394	-5.31;-5.82;-5.52;-5.81;-5.81;-5.52;-4.17;-2.43	4.08	-0.428	0.12306	.	0.403584	0.23824	N	0.044214	D	0.94761	0.8309	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.14805	0.0;0.011;0.01;0.0;0.003;0.001;0.001	B;B;B;B;B;B;B	0.16289	0.0;0.004;0.015;0.001;0.006;0.002;0.001	D	0.89917	0.4056	10	0.49607	T	0.09	-0.6252	0.7382	0.00969	0.308:0.1643:0.36:0.1676	.	43;82;82;82;82;82;82	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	82	ENSP00000410739:P82L;ENSP00000352610:P82L;ENSP00000269305:P82L;ENSP00000398846:P82L;ENSP00000391127:P82L;ENSP00000391478:P82L;ENSP00000424104:P82L;ENSP00000426252:P82L	ENSP00000269305:P82L	P	-	2	0	TP53	7520167	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.243000	0.08915	-0.024000	0.13941	-0.254000	0.11334	CCG		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	63	0	0	0	1	0	42	63				
TRAF6	7189	broad.mit.edu	37	11	36511471	36511471	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36511471G>A	ENST00000526995.1	-	7	1732	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.R496C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	496	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACCTCACAGCGCACTAATAAT	0.483																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1486-1488)Cgc>Tgc		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							138.0	134.0	135.0					11																	36511471		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511471G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1486C>T	11.37:g.36511471G>A	ENSP00000433623:p.Arg496Cys					TRAF6_ENST00000348124.5_Missense_Mutation_p.R496C	p.R496C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1732	-	all_lung(20;0.211)	all_hematologic(20;0.107)	496			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1486C>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782826	0.90282	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.45668	0.89;0.89	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76005	-0.3117	10	0.87932	D	0	-26.7874	19.6799	0.95958	0.0:0.0:1.0:0.0	.	496	Q9Y4K3	TRAF6_HUMAN	C	496	ENSP00000433623:R496C;ENSP00000337853:R496C	ENSP00000337853:R496C	R	-	1	0	TRAF6	36468047	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.813000	0.99286	2.739000	0.93911	0.555000	0.69702	CGC		0.483	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		35	48	0	0	0	1	0	35	48				
TBCC	6903	broad.mit.edu	37	6	42713704	42713704	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42713704C>T	ENST00000372876.1	-	1	130	c.108G>A	c.(106-108)cgG>cgA	p.R36R	TBCC_ENST00000244625.2_Silent_p.R36R	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	36					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTTCCAGCTGCCGTTCTTGTT	0.597																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(106-108)cgG>cgA		tubulin folding cofactor C							70.0	63.0	65.0					6																	42713704		2203	4300	6503	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713704C>T	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.108G>A	6.37:g.42713704C>T						TBCC_ENST00000372876.1_Silent_p.R36R	p.R36R			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	671	-	Colorectal(47;0.196)		36					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.108G>A	CCDS4872.1																																																																																				0.597	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		27	35	0	0	0	1	0	27	35				
NEK9	91754	broad.mit.edu	37	14	75563873	75563873	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:75563873C>T	ENST00000238616.5	-	17	2261	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	701					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAAAATAGGCCGAGGCCATG	0.507																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2101-2103)cgG>cgA		NIMA-related kinase 9							85.0	74.0	78.0					14																	75563873		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75563873C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2103G>A	14.37:g.75563873C>T							p.R701R	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	17	2261	-			701					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2103G>A	CCDS9839.1																																																																																				0.507	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		7	18	0	0	0	1	0	7	18				
LRP1	4035	broad.mit.edu	37	12	57539195	57539195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57539195C>T	ENST00000243077.3	+	6	1229	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Nonsense_Mutation_p.Q255*|RP11-545N8.3_ENST00000554476.1_RNA|LRP1_ENST00000554174.1_Nonsense_Mutation_p.Q255*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.Q255*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	255					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTCAGACGCAGCTCAAGTG	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(763-765)Cag>Tag		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121.0	77.0	92.0					12																	57539195		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57539195C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.763C>T	12.37:g.57539195C>T	ENSP00000243077:p.Gln255*					LRP1_ENST00000338962.4_Nonsense_Mutation_p.Q255*|LRP1_ENST00000554174.1_Nonsense_Mutation_p.Q255*|LRP1_ENST00000553277.1_Nonsense_Mutation_p.Q255*|RP11-545N8.3_ENST00000555461.1_RNA	p.Q255*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	6	1229	+			255					Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.763C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	37	6.149619	0.97324	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	.	.	.	4.97	4.97	0.65823	.	0.088530	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	11.0636	0.47961	0.1849:0.8151:0.0:0.0	.	.	.	.	X	255	.	ENSP00000243077:Q255X	Q	+	1	0	LRP1	55825462	0.963000	0.33076	0.990000	0.47175	0.964000	0.63967	2.262000	0.43285	2.764000	0.94973	0.650000	0.86243	CAG		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		15	20	0	0	0	1	0	15	20				
IGHV1-18	28468	broad.mit.edu	37	14	106641879	106641879	+	RNA	SNP	A	A	G	rs181023633		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:106641879A>G	ENST00000390605.2	-	0	105									immunoglobulin heavy variable 1-18																		TGTGGAGAGGACACAGGAGTG	0.582																																						ENST00000390605.2																			0																				83.0	78.0	80.0					14																	106641879		1906	4123	6029			0							g.chr14:106641879A>G	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641879A>G														0	105	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.582	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		24	39	0	0	0	1	0	24	39				
STXBP4	252983	broad.mit.edu	37	17	53155477	53155477	+	Silent	SNP	C	C	T	rs376882404		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:53155477C>T	ENST00000376352.2	+	14	1434	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	STXBP4_ENST00000434978.2_Silent_p.L387L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	409					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TCATGGTACTCGACTGCCAAT	0.358																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1225-1227)ctC>ctT		syntaxin binding protein 4							80.0	82.0	81.0					17																	53155477		2203	4300	6503	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53155477C>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1227C>T	17.37:g.53155477C>T						STXBP4_ENST00000434978.2_Silent_p.L387L	p.L409L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			14	1434	+			409					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.1227C>T	CCDS11584.2																																																																																				0.358	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		34	42	0	0	0	1	0	34	42				
GRM1	2911	broad.mit.edu	37	6	146755582	146755582	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146755582C>T	ENST00000282753.1	+	8	3470	c.3235C>T	c.(3235-3237)Ccg>Tcg	p.P1079S	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1079S|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1079	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAGATGCTGCCGCTGCAGCT	0.682																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3235-3237)Ccg>Tcg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						41.0	46.0	44.0					6																	146755582		2200	4298	6498	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755582C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3235C>T	6.37:g.146755582C>T	ENSP00000282753:p.Pro1079Ser					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1079S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.P1079S	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3705	+		Ovarian(120;0.0387)	1079			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3235C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407060	0.62399	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.93019	-3.15;-3.15	5.52	5.52	0.82312	.	0.100369	0.64402	D	0.000001	D	0.89825	0.6827	L	0.54323	1.7	0.80722	D	1	P	0.37061	0.58	B	0.35114	0.196	D	0.91086	0.4903	10	0.72032	D	0.01	.	19.4415	0.94823	0.0:1.0:0.0:0.0	.	1079	Q13255	GRM1_HUMAN	S	1079	ENSP00000354896:P1079S;ENSP00000282753:P1079S	ENSP00000282753:P1079S	P	+	1	0	GRM1	146797275	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.468000	0.60162	2.598000	0.87819	0.462000	0.41574	CCG		0.682	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	55	0	0	0	1	0	17	55				
ATP1A4	480	broad.mit.edu	37	1	160134088	160134088	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160134088C>T	ENST00000368081.4	+	7	1392	c.921C>T	c.(919-921)gcC>gcT	p.A307A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	307					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTGGTGGCCGTCTTCCTTG	0.522																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(919-921)gcC>gcT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							330.0	265.0	287.0					1																	160134088		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134088C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.921C>T	1.37:g.160134088C>T							p.A307A	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1392	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		307					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.921C>T	CCDS1197.1																																																																																				0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		60	67	0	0	0	1	0	60	67				
ITK	3702	broad.mit.edu	37	5	156649954	156649954	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:156649954C>T	ENST00000422843.3	+	6	729	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	193	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		R -> Q (in dbSNP:rs17054374).		activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ACTCGCACTGCGGCGCAACGA	0.517			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(577-579)Cgg>Tgg		IL2-inducible T-cell kinase							128.0	119.0	122.0					5																	156649954		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156649954C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.577C>T	5.37:g.156649954C>T	ENSP00000398655:p.Arg193Trp					CTB-4E7.1_ENST00000519375.1_RNA	p.R193W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	729	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	193		R -> Q (in dbSNP:rs17054374).	SH3.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.577C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062469	0.36373	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.90069	-2.61;0.67	5.81	5.81	0.92471	Src homology-3 domain (4);	0.380726	0.29444	N	0.012123	D	0.91868	0.7426	M	0.82193	2.58	0.09310	N	1	P	0.50710	0.938	P	0.47376	0.545	D	0.87741	0.2585	10	0.72032	D	0.01	.	17.008	0.86398	0.0:1.0:0.0:0.0	.	193	Q08881	ITK_HUMAN	W	68;193	ENSP00000430327:R68W;ENSP00000398655:R193W	ENSP00000398655:R193W	R	+	1	2	ITK	156582532	0.010000	0.17322	0.007000	0.13788	0.109000	0.19521	1.917000	0.39996	2.746000	0.94184	0.591000	0.81541	CGG		0.517	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			28	54	0	0	0	1	0	28	54				
FMN1	342184	broad.mit.edu	37	15	33359690	33359690	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:33359690G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Silent_p.D132D|FMN1_ENST00000558197.1_Silent_p.D132D|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATGACATCGTCTTTTGTCC	0.527																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(394-396)gaC>gaT		formin 1							91.0	93.0	92.0					15																	33359690		2010	4165	6175	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359690G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2415C>T	15.37:g.33359690G>A						FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.D132D|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron	p.D132D	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	395	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.396C>T																																																																																					0.527	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		19	23	0	0	0	1	0	19	23				
PLAGL2	5326	broad.mit.edu	37	20	30784255	30784255	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:30784255C>T	ENST00000246229.4	-	3	1755	c.1491G>A	c.(1489-1491)taG>taA	p.*497*		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	0					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTGTGGGGGCTACTGGAATG	0.577																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1489-1491)taG>taA		pleiomorphic adenoma gene-like 2							47.0	52.0	50.0					20																	30784255		2203	4299	6502	SO:0001819	synonymous_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784255C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1491G>A	20.37:g.30784255C>T							p.*497*	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1755	-			0					A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	c.1491G>A	CCDS13197.1																																																																																				0.577	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		12	17	0	0	0	1	0	12	17				
PENK	5179	broad.mit.edu	37	8	57354310	57354310	+	Missense_Mutation	SNP	C	C	A	rs544540811	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:57354310C>A	ENST00000314922.3	-	2	401	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.G109C	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	109					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCATGAAGCCTCCATACCTT	0.488																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(325-327)Ggc>Tgc		proenkephalin							112.0	103.0	106.0					8																	57354310		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354310C>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.325G>T	8.37:g.57354310C>A	ENSP00000324248:p.Gly109Cys					PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.G109C	p.G109C	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	401	-		all_lung(136;0.229)	109					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.325G>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797706	0.90538	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.19806	2.12;2.12	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55373	-0.8151	10	0.87932	D	0	-26.8584	19.4315	0.94772	0.0:1.0:0.0:0.0	.	109	P01210	PENK_HUMAN	C	109	ENSP00000324248:G109C;ENSP00000400894:G109C	ENSP00000324248:G109C	G	-	1	0	PENK	57516864	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.061000	0.76699	2.838000	0.97847	0.655000	0.94253	GGC		0.488	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			34	71	1	0	6.50621e-10	1	6.9326e-10	34	71				
DROSHA	29102	broad.mit.edu	37	5	31464381	31464381	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:31464381C>T	ENST00000511367.2	-	19	2780	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R	DROSHA_ENST00000513349.1_Missense_Mutation_p.G809R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G809R|DROSHA_ENST00000344624.3_Missense_Mutation_p.G846R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	846	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCCAGAATCCTTGGCTACTT	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2536-2538)Gga>Aga		drosha, ribonuclease type III							108.0	105.0	106.0					5																	31464381		1889	4125	6014	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31464381C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2536G>A	5.37:g.31464381C>T	ENSP00000425979:p.Gly846Arg					DROSHA_ENST00000344624.3_Missense_Mutation_p.G846R|DROSHA_ENST00000513349.1_Missense_Mutation_p.G809R|DROSHA_ENST00000442743.1_Missense_Mutation_p.G809R	p.G846R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			19	2780	-			846			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2536G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404019	0.96051	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.53857	1.2;1.2;0.6;0.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.972	T	0.74515	-0.3640	10	0.87932	D	0	-23.5533	20.3248	0.98698	0.0:1.0:0.0:0.0	.	809;846	E7EMP9;Q9NRR4	.;RNC_HUMAN	R	846;846;809;809;771;802	ENSP00000425979:G846R;ENSP00000339845:G846R;ENSP00000409335:G809R;ENSP00000424161:G809R	ENSP00000265075:G771R	G	-	1	0	DROSHA	31500138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.818000	0.97014	0.655000	0.94253	GGA		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		16	23	0	0	0	1	0	16	23				
OIT3	170392	broad.mit.edu	37	10	74692156	74692156	+	Silent	SNP	C	C	T	rs187072047	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:74692156C>T	ENST00000334011.5	+	9	1730	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	504	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGTGTTGGACGAGCGTTCCC	0.582													C|||	3	0.000599042	0.0	0.0	5008	,	,		17690	0.003		0.0	False		,,,				2504	0.0				Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1510-1512)gaC>gaT		oncoprotein induced transcript 3		C		1,4405	2.1+/-5.4	0,1,2202	123.0	128.0	126.0		1512	-4.5	0.0	10		126	0,8600		0,0,4300	no	coding-synonymous	OIT3	NM_152635.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		504/546	74692156	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74692156C>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1512C>T	10.37:g.74692156C>T							p.D504D	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			9	1730	+	Prostate(51;0.0198)		504			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.1512C>T	CCDS7318.1																																																																																				0.582	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		36	72	0	0	0	1	0	36	72				
LYSMD3	116068	broad.mit.edu	37	5	89814725	89814725	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:89814725G>A	ENST00000315948.6	-	3	976	c.832C>T	c.(832-834)Cca>Tca	p.P278S	LYSMD3_ENST00000500869.2_Silent_p.C119C|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	278						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CCTTTAGTTGGCACAATTCCA	0.388																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(832-834)Cca>Tca		LysM, putative peptidoglycan-binding, domain containing 3							136.0	126.0	129.0					5																	89814725		1933	4139	6072	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814725G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.832C>T	5.37:g.89814725G>A	ENSP00000314518:p.Pro278Ser					LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Silent_p.C119C	p.P278S	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	976	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	278					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.832C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586611	0.28268	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.23552	1.9	5.84	5.84	0.93424	.	0.211716	0.39759	N	0.001278	T	0.25680	0.0625	M	0.64997	1.995	0.40023	D	0.975438	B	0.25772	0.134	B	0.18561	0.022	T	0.04961	-1.0915	10	0.17369	T	0.5	-20.3809	13.3556	0.60625	0.0719:0.0:0.9281:0.0	.	278	Q7Z3D4	LYSM3_HUMAN	S	278	ENSP00000314518:P278S	ENSP00000314518:P278S	P	-	1	0	AC027323.1;LYSMD3	89850481	1.000000	0.71417	0.969000	0.41365	0.522000	0.34438	4.650000	0.61440	2.751000	0.94390	0.591000	0.81541	CCA		0.388	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		40	48	0	0	0	1	0	40	48				
HUWE1	10075	broad.mit.edu	37	X	53620387	53620387	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:53620387C>T	ENST00000342160.3	-	31	4135	c.3678G>A	c.(3676-3678)ttG>ttA	p.L1226L	HUWE1_ENST00000262854.6_Silent_p.L1226L|HUWE1_ENST00000218328.8_Silent_p.L1226L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1226					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CACCTCCAGGCAATTTGGCAG	0.473																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(3676-3678)ttG>ttA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							77.0	64.0	68.0					X																	53620387		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53620387C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3678G>A	X.37:g.53620387C>T						HUWE1_ENST00000218328.8_Silent_p.L1226L|HUWE1_ENST00000262854.6_Silent_p.L1226L	p.L1226L			Q7Z6Z7	HUWE1_HUMAN			31	4135	-			1226					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.3678G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976630	0.18736	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.23	2.14	0.27477	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	.	5.973	0.19363	0.1462:0.5934:0.0:0.2604	.	.	.	.	T	260	.	.	A	-	1	0	HUWE1	53637112	0.968000	0.33430	0.997000	0.53966	0.949000	0.60115	0.574000	0.23714	0.449000	0.26747	0.436000	0.28706	GCC		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		25	2	0	0	0	1	0	25	2				
RAC3	5881	broad.mit.edu	37	17	79991650	79991650	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79991650C>T	ENST00000306897.4	+	6	662	c.524C>T	c.(523-525)gCg>gTg	p.A175V	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	175					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGATCCGCGCGGTGCTCTGC	0.662																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(523-525)gCg>gTg		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							43.0	38.0	40.0					17																	79991650		2199	4299	6498	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991650C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.524C>T	17.37:g.79991650C>T	ENSP00000304283:p.Ala175Val						p.A175V	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	662	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		175					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.524C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	c	12.94	2.087375	0.36855	.	.	ENSG00000169750	ENST00000306897	T	0.77358	-1.09	3.74	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.31476	0.935	0.80722	D	1	B	0.20164	0.042	B	0.24701	0.055	T	0.56456	-0.7976	9	.	.	.	.	12.4514	0.55679	0.1693:0.8307:0.0:0.0	.	175	P60763	RAC3_HUMAN	V	175	ENSP00000304283:A175V	.	A	+	2	0	RAC3	77584939	1.000000	0.71417	0.058000	0.19502	0.153000	0.21895	5.789000	0.69029	0.753000	0.32945	0.586000	0.80456	GCG		0.662	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			10	8	0	0	0	1	0	10	8				
LRRTM3	347731	broad.mit.edu	37	10	68687898	68687898	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:68687898C>T	ENST00000361320.4	+	2	1802	c.1224C>T	c.(1222-1224)acC>acT	p.T408T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	408					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCAGAGACCGATGCTGACG	0.597																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1222-1224)acC>acT		leucine rich repeat transmembrane neuronal 3							49.0	52.0	51.0					10																	68687898		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687898C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1224C>T	10.37:g.68687898C>T						CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.T408T	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1802	+			408					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.1224C>T	CCDS7270.1																																																																																				0.597	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		8	18	0	0	0	1	0	8	18				
GABRG3	2567	broad.mit.edu	37	15	27725917	27725917	+	Silent	SNP	C	C	T	rs77771286	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:27725917C>T	ENST00000333743.6	+	6	950	c.696C>T	c.(694-696)atC>atT	p.I232I	GABRG3_ENST00000555083.1_Silent_p.I232I|RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	232					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACAGAAATCGTGACAACGT	0.443													C|||	13	0.00259585	0.0	0.0029	5008	,	,		15354	0.0		0.008	False		,,,				2504	0.0031				NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(694-696)atC>atT		gamma-aminobutyric acid (GABA) A receptor, gamma 3		C		7,3769		0,7,1881	54.0	54.0	54.0		696	-4.5	0.2	15	dbSNP_131	54	84,8170		1,82,4044	no	coding-synonymous	GABRG3	NM_033223.4		1,89,5925	TT,TC,CC		1.0177,0.1854,0.7564		232/468	27725917	91,11939	1888	4127	6015	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27725917C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.696C>T	15.37:g.27725917C>T						GABRG3_ENST00000555083.1_Silent_p.I232I	p.I232I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	6	950	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	232					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.696C>T	CCDS45195.1																																																																																				0.443	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			7	8	0	0	0	1	0	7	8				
PAPD7	11044	broad.mit.edu	37	5	6754936	6754936	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:6754936G>A	ENST00000230859.6	+	13	1636	c.1507G>A	c.(1507-1509)Ggt>Agt	p.G503S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	733					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGCTCTGTGGGTAGCGGAGG	0.597																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1507-1509)Ggt>Agt		PAP associated domain containing 7							34.0	33.0	33.0					5																	6754936		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6754936G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1507G>A	5.37:g.6754936G>A	ENSP00000230859:p.Gly503Ser						p.G503S	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1636	+			503					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1507G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593651	0.46214	.	.	ENSG00000112941	ENST00000230859	T	0.29917	1.55	4.96	4.09	0.47781	.	0.000000	0.56097	D	0.000024	T	0.16599	0.0399	N	0.19112	0.55	0.33735	D	0.618719	B;B	0.23891	0.093;0.093	B;B	0.18561	0.022;0.022	T	0.21381	-1.0247	10	0.12766	T	0.61	-6.4051	8.9969	0.36059	0.1739:0.0:0.8261:0.0	.	502;503	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	S	503	ENSP00000230859:G503S	ENSP00000230859:G503S	G	+	1	0	PAPD7	6807936	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.689000	0.46993	1.211000	0.43351	0.655000	0.94253	GGT		0.597	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		9	12	0	0	0	1	0	9	12				
ZNF672	79894	broad.mit.edu	37	1	249142234	249142234	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249142234C>T	ENST00000306562.3	+	4	1507	c.761C>T	c.(760-762)cCg>cTg	p.P254L		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCGAGAAGCCGTACGCATGT	0.677																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(760-762)cCg>cTg		zinc finger protein 672							8.0	8.0	8.0					1																	249142234		2172	4225	6397	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142234C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.761C>T	1.37:g.249142234C>T	ENSP00000421915:p.Pro254Leu						p.P254L	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1507	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	254					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.761C>T	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337705	0.60963	.	.	ENSG00000171161	ENST00000306562	T	0.24350	1.86	3.77	3.77	0.43336	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35903	U	0.002912	T	0.45276	0.1334	M	0.75150	2.29	0.51233	D	0.999914	D	0.89917	1.0	P	0.60012	0.867	T	0.46470	-0.9189	9	.	.	.	.	13.5045	0.61477	0.0:1.0:0.0:0.0	.	254	Q499Z4	ZN672_HUMAN	L	254	ENSP00000421915:P254L	.	P	+	2	0	ZNF672	247108857	0.986000	0.35501	0.843000	0.33291	0.333000	0.28666	4.326000	0.59241	2.113000	0.64589	0.655000	0.94253	CCG		0.677	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		4	3	0	0	0	1	0	4	3				
TRIM10	10107	broad.mit.edu	37	6	30128254	30128254	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30128254C>T	ENST00000449742.2	-	1	457	c.382G>A	c.(382-384)Gct>Act	p.A128T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A128T|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	128					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GTGTGGGTAGCGTGCTCCCCA	0.577																																						ENST00000449742.2																			0				ovary(1)	1						c.(382-384)Gct>Act		tripartite motif containing 10							81.0	66.0	71.0					6																	30128254		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128254C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.382G>A	6.37:g.30128254C>T	ENSP00000397073:p.Ala128Thr					TRIM10_ENST00000376704.3_Missense_Mutation_p.A128T	p.A128T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	457	-			128					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.382G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984489	0.18889	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.42900	0.96;0.96	5.11	-2.01	0.07410	Zinc finger, B-box (3);	1.392810	0.04623	N	0.402335	T	0.08670	0.0215	N	0.10809	0.05	0.09310	N	1	B;B	0.32829	0.386;0.104	B;B	0.22753	0.041;0.024	T	0.26155	-1.0111	10	0.72032	D	0.01	.	9.2173	0.37355	0.0:0.1337:0.4596:0.4066	.	128;128	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	128	ENSP00000397073:A128T;ENSP00000365894:A128T	ENSP00000365894:A128T	A	-	1	0	TRIM10	30236233	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	-0.211000	0.09332	-0.254000	0.09500	-0.275000	0.10095	GCT		0.577	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			17	17	0	0	0	1	0	17	17				
USP6	9098	broad.mit.edu	37	17	5042866	5042866	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:5042866C>T	ENST00000574788.1	+	22	3625	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	USP6_ENST00000304328.5_Silent_p.G148G|USP6_ENST00000250066.6_Silent_p.G465G|USP6_ENST00000332776.4_Silent_p.G465G			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	465					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATATAGGGGGCCCTTGGTTCC	0.617			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1393-1395)ggC>ggT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							47.0	54.0	52.0					17																	5042866		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042866C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1395C>T	17.37:g.5042866C>T						USP6_ENST00000304328.5_Silent_p.G148G|USP6_ENST00000332776.4_Silent_p.G465G|USP6_ENST00000250066.6_Silent_p.G465G	p.G465G			P35125	UBP6_HUMAN			22	3625	+			465					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.1395C>T	CCDS11069.2																																																																																				0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		9	26	0	0	0	1	0	9	26				
DENND5B	160518	broad.mit.edu	37	12	31600654	31600654	+	Missense_Mutation	SNP	C	C	T	rs187370070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:31600654C>T	ENST00000389082.5	-	6	1943	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Missense_Mutation_p.R582H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R595H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R595H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	560	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCAATGAAGCGTGAAAGAAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19474	0.001		0.0	False		,,,				2504	0.0					ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1678-1680)cGc>cAc		DENN/MADD domain containing 5B							45.0	46.0	45.0					12																	31600654		1870	4108	5978	SO:0001583	missense	160518					integral to membrane		g.chr12:31600654C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1679G>A	12.37:g.31600654C>T	ENSP00000373734:p.Arg560His					DENND5B_ENST00000354285.4_Missense_Mutation_p.R582H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R595H|DENND5B_ENST00000306833.6_Missense_Mutation_p.R595H	p.R560H	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	1943	-			560			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1679G>A	CCDS44857.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.77	2.337437	0.41398	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.84	3.87	0.44632	dDENN (3);	0.137725	0.48767	D	0.000169	T	0.30885	0.0779	N	0.25647	0.755	0.42707	D	0.99363	B;B;B	0.21753	0.027;0.014;0.06	B;B;B	0.20955	0.013;0.032;0.019	T	0.14035	-1.0487	10	0.38643	T	0.18	-4.436	7.1591	0.25654	0.0:0.8156:0.0:0.1844	.	582;560;595	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	H	560;595;595;582	ENSP00000373734:R560H;ENSP00000306482:R595H;ENSP00000444889:R595H;ENSP00000346238:R582H	ENSP00000306482:R595H	R	-	2	0	DENND5B	31491921	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.702000	0.25631	2.518000	0.84900	0.563000	0.77884	CGC		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		5	9	0	0	0	1	0	5	9				
EDEM3	80267	broad.mit.edu	37	1	184692925	184692925	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184692925G>A	ENST00000318130.8	-	8	1079	c.813C>T	c.(811-813)ggC>ggT	p.G271G	EDEM3_ENST00000367512.3_Silent_p.G228G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	271					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTATAGTCACGCCCACTAAAT	0.323																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(811-813)ggC>ggT		ER degradation enhancer, mannosidase alpha-like 3							95.0	102.0	100.0					1																	184692925		2202	4297	6499	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184692925G>A	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.813C>T	1.37:g.184692925G>A						EDEM3_ENST00000367512.3_Silent_p.G228G	p.G271G	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			8	1079	-			271					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.813C>T	CCDS1363.2																																																																																				0.323	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		36	48	0	0	0	1	0	36	48				
OSBPL6	114880	broad.mit.edu	37	2	179251853	179251853	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179251853G>A	ENST00000190611.4	+	20	2519	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	OSBPL6_ENST00000409631.1_Missense_Mutation_p.V679I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V740I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V679I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V684I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V719I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	715					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AACACTGAATGTCATGCTTCC	0.408																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2143-2145)Gtc>Atc		oxysterol binding protein-like 6							118.0	104.0	109.0					2																	179251853		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179251853G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2143G>A	2.37:g.179251853G>A	ENSP00000190611:p.Val715Ile					OSBPL6_ENST00000315022.2_Missense_Mutation_p.V719I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V684I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V679I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V740I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V679I	p.V715I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		20	2519	+			715					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2143G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400059	0.62177	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.67	5.67	0.87782	.	0.108387	0.64402	D	0.000008	T	0.45796	0.1360	L	0.53780	1.695	0.54753	D	0.999985	P;B;B;B;B	0.39094	0.659;0.02;0.094;0.447;0.036	P;B;B;B;B	0.49332	0.607;0.031;0.12;0.216;0.074	T	0.10086	-1.0645	10	0.40728	T	0.16	-8.1627	20.1421	0.98061	0.0:0.0:1.0:0.0	.	684;719;679;740;715	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	740;679;684;715;679;719	ENSP00000376293:V740I;ENSP00000352713:V679I;ENSP00000387248:V684I;ENSP00000190611:V715I;ENSP00000386885:V679I;ENSP00000318723:V719I	ENSP00000190611:V715I	V	+	1	0	OSBPL6	178960099	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.320000	0.72876	2.836000	0.97738	0.655000	0.94253	GTC		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		13	23	0	0	0	1	0	13	23				
HSPA4L	22824	broad.mit.edu	37	4	128732695	128732695	+	Silent	SNP	C	C	T	rs143377960		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:128732695C>T	ENST00000296464.4	+	12	1893	c.1482C>T	c.(1480-1482)agC>agT	p.S494S	HSPA4L_ENST00000505726.1_Silent_p.S468S|HSPA4L_ENST00000508776.1_Silent_p.S494S|HSPA4L_ENST00000439123.2_Silent_p.S525S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	494					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S494S(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGTGGCTAGCGCATCAGTAA	0.373																																						ENST00000296464.3																			1	Substitution - coding silent(1)	p.S494S(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1480-1482)agC>agT		heat shock 70kDa protein 4-like							98.0	93.0	95.0					4																	128732695		2203	4300	6503	SO:0001819	synonymous_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128732695C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1482C>T	4.37:g.128732695C>T						HSPA4L_ENST00000505726.1_Silent_p.S468S|HSPA4L_ENST00000439123.2_Silent_p.S525S|HSPA4L_ENST00000508776.1_Silent_p.S494S	p.S494S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			12	1893	+			494					A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	c.1482C>T	CCDS3734.1																																																																																				0.373	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		16	33	0	0	0	1	0	16	33				
FAM129A	116496	broad.mit.edu	37	1	184772813	184772813	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:184772813T>C	ENST00000367511.3	-	12	1653	c.1460A>G	c.(1459-1461)gAc>gGc	p.D487G	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	487					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGTGCTGCTGTCATAATCATA	0.398																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1459-1461)gAc>gGc		family with sequence similarity 129, member A							204.0	183.0	190.0					1																	184772813		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184772813T>C	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1460A>G	1.37:g.184772813T>C	ENSP00000356481:p.Asp487Gly					FAM129A_ENST00000487074.1_5'UTR	p.D487G	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			12	1653	-			487					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1460A>G	CCDS1364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.211574|4.211574	0.79240|0.79240	.|.	.|.	ENSG00000135842|ENSG00000135842	ENST00000367511|ENST00000417056	T|.	0.58060|.	0.36|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75087|.	0.3802|.	M|M	0.79123|0.79123	2.44|2.44	0.53005|0.53005	D|D	0.999969|0.999969	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.76677|.	-0.2871|.	10|.	0.87932|.	D|.	0|.	-35.0598|-35.0598	13.8735|13.8735	0.63634|0.63634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	18;487|.	Q5TEY9;Q9BZQ8|.	.;NIBAN_HUMAN|.	G|W	487|18	ENSP00000356481:D487G|.	ENSP00000356481:D487G|.	D|X	-|-	2|3	0|0	FAM129A|FAM129A	183039436|183039436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.613000|6.613000	0.74192|0.74192	2.015000|2.015000	0.59207|0.59207	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.398	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			27	45	0	0	0	1	0	27	45				
GOLGA5	9950	broad.mit.edu	37	14	93303736	93303736	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:93303736G>A	ENST00000163416.2	+	12	2313	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	686					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CACAGTATTCGCCTGGGAATT	0.363			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(2056-2058)cGc>cAc		golgin A5							127.0	139.0	135.0					14																	93303736		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93303736G>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2057G>A	14.37:g.93303736G>A	ENSP00000163416:p.Arg686His					GOLGA5_ENST00000355976.2_Intron	p.R686H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	12	2313	+		all_cancers(154;0.0934)	686					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2057G>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710779	0.89112	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.62364	0.03	5.4	5.4	0.78164	.	0.000000	0.47852	D	0.000218	T	0.81403	0.4815	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83427	0.0036	10	0.59425	D	0.04	-10.3798	18.174	0.89756	0.0:0.0:1.0:0.0	.	686	Q8TBA6	GOGA5_HUMAN	H	686;595	ENSP00000163416:R686H	ENSP00000163416:R686H	R	+	2	0	GOLGA5	92373489	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	9.051000	0.93849	2.510000	0.84645	0.650000	0.86243	CGC		0.363	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			90	144	0	0	0	1	0	90	144				
AP5Z1	9907	broad.mit.edu	37	7	4825975	4825975	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:4825975A>T	ENST00000348624.4	+	10	1321	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	AP5Z1_ENST00000401897.1_Missense_Mutation_p.E409D|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	409					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCCTTTGAATTCATCCAGT	0.572																																						ENST00000348624.4																			0											c.(1225-1227)gaA>gaT		adaptor-related protein complex 5, zeta 1 subunit							106.0	117.0	114.0					7																	4825975		2032	4181	6213	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825975A>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1227A>T	7.37:g.4825975A>T	ENSP00000297562:p.Glu409Asp					AP5Z1_ENST00000401897.1_Missense_Mutation_p.E409D	p.E409D	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			10	1321	+			409					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.1227A>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427824	0.43122	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.44881	0.91;0.91	5.29	1.49	0.22878	.	0.060483	0.64402	D	0.000005	T	0.37598	0.1009	M	0.73753	2.245	0.41800	D	0.989912	P	0.38729	0.644	B	0.38264	0.269	T	0.11012	-1.0605	10	0.23302	T	0.38	.	6.8126	0.23812	0.4627:0.0:0.5373:0.0	.	409	O43299	K0415_HUMAN	D	409	ENSP00000297562:E409D;ENSP00000384980:E409D	ENSP00000297562:E409D	E	+	3	2	KIAA0415	4792501	1.000000	0.71417	0.241000	0.24154	0.933000	0.57130	1.065000	0.30592	0.245000	0.21373	-0.252000	0.11476	GAA		0.572	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			40	61	0	0	0	1	0	40	61				
FBXL13	222235	broad.mit.edu	37	7	102453883	102453883	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:102453883G>T	ENST00000313221.4	-	20	2540	c.2114C>A	c.(2113-2115)cCt>cAt	p.P705H	FBXL13_ENST00000379308.3_Missense_Mutation_p.P660H|FBXL13_ENST00000393772.2_Missense_Mutation_p.P677H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P677H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P660H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P423H|FBXL13_ENST00000456695.1_Missense_Mutation_p.P423H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P705H	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	705										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTCTGTAACAGGGTTTCCTTC	0.428																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(2029-2031)cCt>cAt		F-box and leucine-rich repeat protein 13							303.0	259.0	274.0					7																	102453883		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102453883G>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2114C>A	7.37:g.102453883G>T	ENSP00000321927:p.Pro705His					FBXL13_ENST00000456695.1_Missense_Mutation_p.P423H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P660H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P705H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P677H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P423H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P660H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P705H	p.P677H			Q8NEE6	FXL13_HUMAN			19	2456	-			705					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.2030C>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820005	0.50633	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.09630	3.13;3.05;2.96;3.13;3.22;3.22;2.96;3.05	5.79	-1.09	0.09904	.	0.942056	0.08835	N	0.886664	T	0.15652	0.0377	L	0.57536	1.79	0.09310	N	1	D;P;D;D	0.61080	0.969;0.799;0.989;0.98	P;P;P;P	0.53313	0.634;0.545;0.723;0.635	T	0.18209	-1.0344	10	0.72032	D	0.01	.	1.9713	0.03406	0.2948:0.2362:0.3595:0.1095	.	660;423;677;705	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	H	677;660;423;426;677;705;705;423;660	ENSP00000377367:P677H;ENSP00000368610:P660H;ENSP00000368608:P423H;ENSP00000368607:P677H;ENSP00000388608:P705H;ENSP00000321927:P705H;ENSP00000409716:P423H;ENSP00000391550:P660H	ENSP00000321927:P705H	P	-	2	0	FBXL13	102241119	0.344000	0.24827	0.000000	0.03702	0.004000	0.04260	0.081000	0.14823	-0.120000	0.11809	-0.195000	0.12781	CCT		0.428	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		43	65	1	0	2.40228e-13	1	2.60856e-13	43	65				
SEZ6	124925	broad.mit.edu	37	17	27287826	27287826	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:27287826T>C	ENST00000317338.12	-	6	1834	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.D469G|SEZ6_ENST00000335960.6_Missense_Mutation_p.D469G|SEZ6_ENST00000442608.3_Missense_Mutation_p.D469G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	469	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCCTCACCTGTCATCATCCTC	0.597																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(1405-1407)gAc>gGc		seizure related 6 homolog (mouse)							76.0	83.0	81.0					17																	27287826		2076	4215	6291	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27287826T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1406A>G	17.37:g.27287826T>C	ENSP00000312942:p.Asp469Gly					SEZ6_ENST00000442608.3_Missense_Mutation_p.D469G|SEZ6_ENST00000360295.9_Missense_Mutation_p.D469G|SEZ6_ENST00000335960.6_Missense_Mutation_p.D469G|PIPOX_ENST00000583215.1_Intron	p.D469G			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		6	1834	-	Lung NSC(42;0.0137)		469			CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1406A>G	CCDS45639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.266498|4.266498	0.80358|0.80358	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381|ENST00000539265	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	4.53|4.53	4.53|4.53	0.55603|0.55603	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80412|0.80412	0.4618|0.4618	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.994|.	D;D|.	0.85130|.	0.997;0.978|.	D|D	0.84652|0.84652	0.0701|0.0701	10|5	0.87932|.	D|.	0|.	.|.	12.1311|12.1311	0.53944|0.53944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	469;469|.	Q53EL9-3;Q53EL9|.	.;SEZ6_HUMAN|.	G|A	469;469;344;469;469|56	ENSP00000403784:D469G;ENSP00000353440:D469G;ENSP00000337407:D469G|.	ENSP00000312942:D344G|.	D|T	-|-	2|1	0|0	SEZ6|SEZ6	24311952|24311952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.822000|5.822000	0.69265|0.69265	2.039000|2.039000	0.60335|0.60335	0.260000|0.260000	0.18958|0.18958	GAC|ACA		0.597	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			33	37	0	0	0	1	0	33	37				
TCEB3B	51224	broad.mit.edu	37	18	44559587	44559587	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:44559587G>A	ENST00000332567.4	-	1	2401	c.2049C>T	c.(2047-2049)caC>caT	p.H683H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	683					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGAGGGAGTGTGGCTGCTTC	0.627																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2047-2049)caC>caT		transcription elongation factor B polypeptide 3B (elongin A2)							37.0	43.0	41.0					18																	44559587		2200	4297	6497	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559587G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2049C>T	18.37:g.44559587G>A						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.H683H	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2401	-			683					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.2049C>T	CCDS11932.1																																																																																				0.627	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		33	33	0	0	0	1	0	33	33				
VPS13A	23230	broad.mit.edu	37	9	79929492	79929492	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79929492T>C	ENST00000360280.3	+	37	4584	c.4324T>C	c.(4324-4326)Tat>Cat	p.Y1442H	VPS13A_ENST00000357409.5_Missense_Mutation_p.Y1442H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.Y1442H|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y1403H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1442					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAAAATGTATACAGATGG	0.323																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(4324-4326)Tat>Cat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							63.0	67.0	66.0					9																	79929492		2200	4291	6491	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79929492T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4324T>C	9.37:g.79929492T>C	ENSP00000353422:p.Tyr1442His					VPS13A_ENST00000357409.5_Missense_Mutation_p.Y1442H|VPS13A_ENST00000376634.4_Missense_Mutation_p.Y1442H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y1403H	p.Y1442H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			37	4584	+			1442					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.4324T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770546	0.69992	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.49432	0.97;0.78;0.87;0.96	5.57	3.21	0.36854	.	0.429390	0.23585	N	0.046608	T	0.46718	0.1407	L	0.43152	1.355	0.80722	D	1	P;P;D;D	0.53885	0.898;0.874;0.963;0.963	P;B;P;P	0.53809	0.579;0.342;0.735;0.627	T	0.27226	-1.0080	10	0.16896	T	0.51	.	9.6955	0.40154	0.0:0.1452:0.0:0.8548	.	1403;1442;1442;1442	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	1442;1403;1442;1442	ENSP00000365821:Y1442H;ENSP00000365823:Y1403H;ENSP00000353422:Y1442H;ENSP00000349985:Y1442H	ENSP00000349985:Y1442H	Y	+	1	0	VPS13A	79119312	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.324000	0.33712	0.949000	0.37715	0.445000	0.29226	TAT		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		21	24	0	0	0	1	0	21	24				
GPR161	23432	broad.mit.edu	37	1	168074014	168074014	+	Silent	SNP	G	G	A	rs115455892	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:168074014G>A	ENST00000367838.1	-	4	388	c.75C>T	c.(73-75)ggC>ggT	p.G25G	GPR161_ENST00000271357.5_Silent_p.G25G|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000361697.2_Silent_p.G25G|GPR161_ENST00000367835.1_Silent_p.G25G|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Silent_p.G45G|GPR161_ENST00000539777.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	25					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGATGATGACGCCCCCTTCGC	0.562													G|||	37	0.00738818	0.0265	0.0029	5008	,	,		21537	0.0		0.0	False		,,,				2504	0.0					ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(73-75)ggC>ggT		G protein-coupled receptor 161		G		84,4322	70.9+/-108.8	2,80,2121	176.0	141.0	153.0		75	-0.8	0.0	1	dbSNP_132	153	0,8600		0,0,4300	no	coding-synonymous	GPR161	NM_153832.1		2,80,6421	AA,AG,GG		0.0,1.9065,0.6459		25/530	168074014	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168074014G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.75C>T	1.37:g.168074014G>A						GPR161_ENST00000367835.1_Silent_p.G25G|GPR161_ENST00000271357.5_Silent_p.G25G|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000361697.2_Silent_p.G25G|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Silent_p.G45G	p.G25G	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			4	388	-	all_hematologic(923;0.215)		25					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.75C>T	CCDS1268.1																																																																																				0.562	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		18	30	0	0	0	1	0	18	30				
FCHO1	23149	broad.mit.edu	37	19	17877525	17877525	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:17877525T>C	ENST00000596536.1	+	7	525	c.242T>C	c.(241-243)cTg>cCg	p.L81P	FCHO1_ENST00000539407.1_Missense_Mutation_p.L81P|FCHO1_ENST00000595033.1_Missense_Mutation_p.L31P|FCHO1_ENST00000596951.1_Missense_Mutation_p.L81P|FCHO1_ENST00000389133.4_Missense_Mutation_p.L81P|FCHO1_ENST00000600676.1_Missense_Mutation_p.L81P|FCHO1_ENST00000252771.7_Missense_Mutation_p.L81P|FCHO1_ENST00000594202.1_Missense_Mutation_p.L81P|FCHO1_ENST00000597512.1_Missense_Mutation_p.L88P	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	81	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCGGACAAGCTGGCGCTGTGC	0.627																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(241-243)cTg>cCg		FCH domain only 1							57.0	46.0	50.0					19																	17877525		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17877525T>C	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.242T>C	19.37:g.17877525T>C	ENSP00000470731:p.Leu81Pro					FCHO1_ENST00000596536.1_Missense_Mutation_p.L81P|FCHO1_ENST00000539407.1_Missense_Mutation_p.L81P|FCHO1_ENST00000252771.7_Missense_Mutation_p.L81P|FCHO1_ENST00000597512.1_Missense_Mutation_p.L88P|FCHO1_ENST00000389133.4_Missense_Mutation_p.L81P|FCHO1_ENST00000600676.1_Missense_Mutation_p.L81P|FCHO1_ENST00000596951.1_Missense_Mutation_p.L81P|FCHO1_ENST00000595033.1_Missense_Mutation_p.L31P	p.L81P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			7	521	+			81			FCH.		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.242T>C	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347762	0.82022	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.21031	2.03;2.03;2.03	5.05	5.05	0.67936	Fps/Fes/Fer/CIP4 homology (3);	0.249543	0.33610	N	0.004729	T	0.49847	0.1581	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.57051	-0.7877	10	0.72032	D	0.01	-16.5806	11.2137	0.48815	0.0:0.0:0.0:1.0	.	31;81;81	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	P	81	ENSP00000252771:L81P;ENSP00000373785:L81P;ENSP00000437978:L81P	ENSP00000252771:L81P	L	+	2	0	FCHO1	17738525	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.392000	0.79840	1.911000	0.55334	0.454000	0.30748	CTG		0.627	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		8	10	0	0	0	1	0	8	10				
ANK2	287	broad.mit.edu	37	4	114277565	114277565	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114277565G>A	ENST00000357077.4	+	38	7844	c.7791G>A	c.(7789-7791)atG>atA	p.M2597I	ANK2_ENST00000264366.6_Missense_Mutation_p.M2564I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2597					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAATCAAAATGTTTGATGAAC	0.383																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(7789-7791)atG>atA		ankyrin 2, neuronal							99.0	104.0	102.0					4																	114277565		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277565G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7791G>A	4.37:g.114277565G>A	ENSP00000349588:p.Met2597Ile					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2564I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.M2597I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7844	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2564					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7791G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546369	0.13312	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66638	-0.21;-0.22	6.11	2.4	0.29515	.	0.303320	0.28921	N	0.013718	T	0.45975	0.1369	N	0.24115	0.695	0.80722	D	1	B;B	0.24258	0.1;0.01	B;B	0.21151	0.024;0.033	T	0.13282	-1.0515	9	.	.	.	.	7.368	0.26785	0.2612:0.1192:0.6196:0.0	.	2564;2597	Q01484;Q01484-4	ANK2_HUMAN;.	I	2597;2564	ENSP00000349588:M2597I;ENSP00000264366:M2564I	.	M	+	3	0	ANK2	114497014	0.010000	0.17322	0.769000	0.31535	0.887000	0.51463	-0.007000	0.12810	0.119000	0.18210	0.655000	0.94253	ATG		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	30	0	0	0	1	0	30	30				
CHST2	9435	broad.mit.edu	37	3	142841089	142841089	+	Silent	SNP	G	G	A	rs147682013	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:142841089G>A	ENST00000309575.3	+	2	2815	c.1431G>A	c.(1429-1431)acG>acA	p.T477T		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	477					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.T477T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCAATGCCACGCAGGCCGCCA	0.612																																						ENST00000309575.3																			1	Substitution - coding silent(1)	p.T477T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1429-1431)acG>acA		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2		G		5,4401	9.9+/-24.2	0,5,2198	56.0	57.0	57.0		1431	-3.7	1.0	3	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	CHST2	NM_004267.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		477/531	142841089	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841089G>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1431G>A	3.37:g.142841089G>A							p.T477T	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2815	+			477					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.1431G>A	CCDS3129.1																																																																																				0.612	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		4	29	0	0	0	1	0	4	29				
OCA2	4948	broad.mit.edu	37	15	28259961	28259961	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28259961C>T	ENST00000354638.3	-	9	1160	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	OCA2_ENST00000353809.5_Silent_p.T335T|OCA2_ENST00000382996.2_Silent_p.T335T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	335					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGAGGATGGCCGTCGCGATGG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1003-1005)acG>acA		oculocutaneous albinism II							87.0	76.0	79.0					15																	28259961		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28259961C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1005G>A	15.37:g.28259961C>T						OCA2_ENST00000353809.5_Silent_p.T335T|OCA2_ENST00000382996.2_Silent_p.T335T	p.T335T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1160	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	335					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1005G>A	CCDS10020.1																																																																																				0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		8	7	0	0	0	1	0	8	7				
NXPE4	54827	broad.mit.edu	37	11	114452476	114452476	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:114452476A>G	ENST00000375478.3	-	4	1043	c.863T>C	c.(862-864)tTc>tCc	p.F288S	NXPE4_ENST00000424261.2_Missense_Mutation_p.F4S	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	288						extracellular vesicular exosome (GO:0070062)		p.F288C(1)									AATTGTATTGAATTTTTCCAT	0.378																																						ENST00000375478.3																			1	Substitution - Missense(1)	p.F288C(1)	large_intestine(1)								c.(862-864)tTc>tCc		neurexophilin and PC-esterase domain family, member 4							132.0	126.0	128.0					11																	114452476		1877	4105	5982	SO:0001583	missense	54827							g.chr11:114452476A>G	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.863T>C	11.37:g.114452476A>G	ENSP00000364627:p.Phe288Ser					NXPE4_ENST00000424261.2_Missense_Mutation_p.F4S	p.F288S	NM_001077639.1	NP_001071107.1					4	1043	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.863T>C	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	A	8.954	0.968860	0.18659	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.15603	2.41;2.83	4.69	1.09	0.20402	.	0.590181	0.15028	N	0.284648	T	0.11410	0.0278	L	0.33093	0.98	0.09310	N	1	B	0.27951	0.195	B	0.29524	0.103	T	0.35025	-0.9805	10	0.21014	T	0.42	.	7.4356	0.27154	0.7315:0.0:0.2685:0.0	.	288	Q6UWF7	FA55D_HUMAN	S	4;288	ENSP00000401503:F4S;ENSP00000364627:F288S	ENSP00000364627:F288S	F	-	2	0	FAM55D	113957686	0.013000	0.17824	0.017000	0.16124	0.721000	0.41392	1.679000	0.37597	-0.007000	0.14345	0.460000	0.39030	TTC		0.378	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		15	25	0	0	0	1	0	15	25				
RREB1	6239	broad.mit.edu	37	6	7229303	7229303	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:7229303C>T	ENST00000349384.6	+	10	1285	c.971C>T	c.(970-972)gCg>gTg	p.A324V	RREB1_ENST00000334984.6_Missense_Mutation_p.A324V|RREB1_ENST00000379938.2_Missense_Mutation_p.A324V|RREB1_ENST00000379933.3_Missense_Mutation_p.A324V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	324					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGTGACAAGGCGTTCCCCATG	0.592																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(970-972)gCg>gTg		ras responsive element binding protein 1							73.0	59.0	64.0					6																	7229303		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229303C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.971C>T	6.37:g.7229303C>T	ENSP00000305560:p.Ala324Val					RREB1_ENST00000379933.3_Missense_Mutation_p.A324V|RREB1_ENST00000349384.6_Missense_Mutation_p.A324V|RREB1_ENST00000334984.6_Missense_Mutation_p.A324V	p.A324V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1508	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	324					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.971C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831485	0.71258	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.53938	D	0.000057	T	0.73877	0.3643	M	0.76002	2.32	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.99	T	0.75241	-0.3387	10	0.66056	D	0.02	-33.4798	19.8586	0.96775	0.0:1.0:0.0:0.0	.	324;324;324	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	324	ENSP00000369265:A324V;ENSP00000369270:A324V;ENSP00000305560:A324V;ENSP00000335574:A324V;ENSP00000419511:A324V	ENSP00000335574:A324V	A	+	2	0	RREB1	7174302	1.000000	0.71417	0.973000	0.42090	0.630000	0.37929	5.873000	0.69644	2.701000	0.92244	0.462000	0.41574	GCG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			14	17	0	0	0	1	0	14	17				
RYR3	6263	broad.mit.edu	37	15	34072456	34072456	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:34072456C>T	ENST00000389232.4	+	65	9252	c.9182C>T	c.(9181-9183)gCc>gTc	p.A3061V	RYR3_ENST00000415757.3_Missense_Mutation_p.A3061V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCAGCTGCCATACCAGTG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9181-9183)gCc>gTc		ryanodine receptor 3							52.0	55.0	54.0					15																	34072456		1946	4155	6101	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34072456C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9182C>T	15.37:g.34072456C>T	ENSP00000373884:p.Ala3061Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A3061V	p.A3061V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	65	9252	+		all_lung(180;7.18e-09)	3061					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9182C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522190	0.96416	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62788	-0.0;-0.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.84433	2.695	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.66084	0.941;0.913	D	0.83775	0.0222	10	0.72032	D	0.01	.	19.1786	0.93614	0.0:1.0:0.0:0.0	.	3061;3061	Q15413-2;Q15413	.;RYR3_HUMAN	V	3061	ENSP00000373884:A3061V;ENSP00000399610:A3061V	ENSP00000354735:A3061V	A	+	2	0	RYR3	31859748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.768000	0.95171	0.650000	0.86243	GCC		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	19	0	0	0	1	0	9	19				
ABCB10	23456	broad.mit.edu	37	1	229667480	229667480	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:229667480T>C	ENST00000344517.4	-	7	1382		c.e7-2			NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AGCTCAGACCTGAGGATGAGA	0.527																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.e7-2		ATP-binding cassette, sub-family B (MDR/TAP), member 10							44.0	48.0	47.0					1																	229667480		2203	4300	6503	SO:0001630	splice_region_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229667480T>C	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1340-2A>G	1.37:g.229667480T>C								NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			7	1382	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)						Q13040|Q6P1Q8|Q9H3V0	Splice_Site	SNP	ENST00000344517.4	37		CCDS1580.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039258	0.75617	.	.	ENSG00000135776	ENST00000344517	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0022	0.71483	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB10	227734103	1.000000	0.71417	0.994000	0.49952	0.823000	0.46562	7.502000	0.81614	2.277000	0.76020	0.528000	0.53228	.		0.527	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	Intron	18	19	0	0	0	1	0	18	19				
XDH	7498	broad.mit.edu	37	2	31611156	31611156	+	Silent	SNP	A	A	G	rs45462996		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:31611156A>G	ENST00000379416.3	-	7	549	c.501T>C	c.(499-501)ggT>ggC	p.G167G	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACAGCATCCACCATCCTAGA	0.443																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(499-501)ggT>ggC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						131.0	118.0	122.0					2																	31611156		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31611156A>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.501T>C	2.37:g.31611156A>G						XDH_ENST00000491727.1_5'UTR	p.G167G	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			7	549	-	Acute lymphoblastic leukemia(172;0.155)		167					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.501T>C	CCDS1775.1																																																																																				0.443	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		13	44	0	0	0	1	0	13	44				
A2ML1	144568	broad.mit.edu	37	12	9013508	9013508	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:9013508C>T	ENST00000299698.7	+	27	3476	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A608V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCTTGACTGCGTATGTCACA	0.512											OREG0021663	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(3295-3297)gCg>gTg		alpha-2-macroglobulin-like 1							201.0	201.0	201.0					12																	9013508		2147	4262	6409	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013508C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3296C>T	12.37:g.9013508C>T	ENSP00000299698:p.Ala1099Val		OREG0021663	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	A2ML1_ENST00000539547.1_Missense_Mutation_p.A608V	p.A1099V	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			27	3476	+			943						Missense_Mutation	SNP	ENST00000299698.7	37	c.3296C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087335	0.55968	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.57595	0.39;0.39;0.39	4.0	4.0	0.46444	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.56097	D	0.000025	T	0.78817	0.4343	M	0.93808	3.46	0.44302	D	0.997176	D	0.89917	1.0	D	0.85130	0.997	D	0.85347	0.1099	10	0.87932	D	0	.	15.1895	0.73032	0.0:1.0:0.0:0.0	.	1099	A8K2U0	A2ML1_HUMAN	V	1099;1099;649;608	ENSP00000299698:A1099V;ENSP00000443174:A649V;ENSP00000438292:A608V	ENSP00000299698:A1099V	A	+	2	0	A2ML1	8904775	1.000000	0.71417	0.015000	0.15790	0.057000	0.15508	6.976000	0.76135	2.221000	0.72209	0.563000	0.77884	GCG		0.512	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		5	110	0	0	0	1	0	5	110				
HMOX1	3162	broad.mit.edu	37	22	35782786	35782786	+	Missense_Mutation	SNP	C	C	T	rs141730669	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35782786C>T	ENST00000216117.8	+	3	592	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	85					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	AGAGCTGCACCGCAAGGCTGC	0.627													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17616	0.0		0.0	False		,,,				2504	0.0					ENST00000216117.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(253-255)Cgc>Tgc		heme oxygenase (decycling) 1	NADH(DB00157)	C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	52.0	54.0	53.0		253	4.8	1.0	22	dbSNP_134	53	0,8600		0,0,4300	yes	missense	HMOX1	NM_002133.2	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	85/289	35782786	3,13003	2203	4300	6503	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35782786C>T		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.253C>T	22.37:g.35782786C>T	ENSP00000216117:p.Arg85Cys						p.R85C	NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN			3	592	+			85						Missense_Mutation	SNP	ENST00000216117.8	37	c.253C>T	CCDS13914.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	16.90	3.250049	0.59212	6.81E-4	0.0	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.44482	0.92;0.92	5.8	4.79	0.61399	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83265	-0.0046	10	0.87932	D	0	-24.303	14.8491	0.70284	0.0:0.9312:0.0:0.0688	.	85	P09601	HMOX1_HUMAN	C	85	ENSP00000413316:R85C;ENSP00000216117:R85C	ENSP00000216117:R85C	R	+	1	0	HMOX1	34112786	1.000000	0.71417	0.992000	0.48379	0.187000	0.23431	4.743000	0.62110	1.476000	0.48215	-0.136000	0.14681	CGC		0.627	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			20	23	0	0	0	1	0	20	23				
RAG1	5896	broad.mit.edu	37	11	36595998	36595998	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:36595998T>C	ENST00000299440.5	+	2	1256	c.1144T>C	c.(1144-1146)Tca>Cca	p.S382P		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	382					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCACAAGGAATCAAAAGAGAT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1144-1146)Tca>Cca		recombination activating gene 1							46.0	49.0	48.0					11																	36595998		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595998T>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1144T>C	11.37:g.36595998T>C	ENSP00000299440:p.Ser382Pro						p.S382P	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1256	+	all_lung(20;0.226)	all_hematologic(20;0.107)	382					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1144T>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665819	0.29604	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.77620	-1.11;-1.11	5.53	1.59	0.23543	Zinc finger, C2H2-type/integrase, DNA-binding (1);Zinc finger, V(D)J recombination-activating protein 1 (1);	0.536718	0.17893	N	0.158455	T	0.65954	0.2741	L	0.42245	1.32	0.27830	N	0.94147	P	0.39551	0.678	B	0.41646	0.362	T	0.60934	-0.7164	10	0.54805	T	0.06	.	1.2045	0.01892	0.3772:0.0975:0.1279:0.3974	.	382	P15918	RAG1_HUMAN	P	382	ENSP00000434610:S382P;ENSP00000299440:S382P	ENSP00000299440:S382P	S	+	1	0	RAG1	36552574	0.001000	0.12720	0.597000	0.28824	0.836000	0.47400	0.314000	0.19432	0.911000	0.36747	0.529000	0.55759	TCA		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	34	0	0	0	1	0	8	34				
CHRM4	1132	broad.mit.edu	37	11	46407071	46407071	+	Missense_Mutation	SNP	G	G	A	rs191392166	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46407071G>A	ENST00000433765.2	-	1	1036	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	346					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCTGCTTCGTCACAATCTG	0.662													g|||	2	0.000399361	0.0015	0.0	5008	,	,		16278	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(1036-1038)aCg>aTg		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)		MET/THR	4,4280		0,4,2138	184.0	195.0	192.0		1037	4.4	1.0	11		192	0,8474		0,0,4237	yes	missense	CHRM4	NM_000741.2	81	0,4,6375	AA,AG,GG		0.0,0.0934,0.0314	probably-damaging	346/480	46407071	4,12754	2142	4237	6379	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407071G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1037C>T	11.37:g.46407071G>A	ENSP00000409378:p.Thr346Met						p.T346M	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1036	-			346					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1037C>T	CCDS44581.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	14.81	2.647409	0.47258	9.34E-4	0.0	ENSG00000180720	ENST00000433765	T	0.61274	0.12	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70988	0.3287	L	0.52759	1.655	0.53005	D	0.999962	D	0.89917	1.0	D	0.75020	0.985	T	0.74472	-0.3654	9	0.66056	D	0.02	-8.5989	17.2558	0.87056	0.0:0.0:1.0:0.0	.	346	P08173	ACM4_HUMAN	M	346	ENSP00000409378:T346M	ENSP00000409378:T346M	T	-	2	0	CHRM4	46363647	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	7.511000	0.81718	2.307000	0.77673	0.457000	0.33378	ACG		0.662	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		14	208	0	0	0	1	0	14	208				
ZNF319	57567	broad.mit.edu	37	16	58032066	58032066	+	Missense_Mutation	SNP	G	G	A	rs377747195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:58032066G>A	ENST00000299237.2	-	2	726	c.104C>T	c.(103-105)aCg>aTg	p.T35M	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	35	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGAGGCAGCGTGTGCTCTGC	0.701																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(103-105)aCg>aTg		zinc finger protein 319		G	MET/THR	1,4395	2.1+/-5.4	0,1,2197	57.0	57.0	57.0		104	3.7	0.7	16		57	0,8596		0,0,4298	no	missense	ZNF319	NM_020807.1	81	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	35/583	58032066	1,12991	2198	4298	6496	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58032066G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.104C>T	16.37:g.58032066G>A	ENSP00000299237:p.Thr35Met						p.T35M	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	726	-			35			Pro-rich.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.104C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	6.406	0.442981	0.12164	2.27E-4	0.0	ENSG00000166188	ENST00000299237	T	0.03580	3.88	4.71	3.73	0.42828	.	0.176975	0.33092	N	0.005282	T	0.02418	0.0074	N	0.12182	0.205	0.38800	D	0.955178	P	0.44006	0.824	B	0.33521	0.165	T	0.58819	-0.7569	10	0.66056	D	0.02	-5.1077	13.8929	0.63750	0.0:0.1536:0.8464:0.0	.	35	Q9P2F9	ZN319_HUMAN	M	35	ENSP00000299237:T35M	ENSP00000299237:T35M	T	-	2	0	ZNF319	56589567	0.989000	0.36119	0.749000	0.31150	0.019000	0.09904	4.460000	0.60108	1.143000	0.42306	0.462000	0.41574	ACG		0.701	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			21	21	0	0	0	1	0	21	21				
MECOM	2122	broad.mit.edu	37	3	168819908	168819908	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:168819908G>A	ENST00000464456.1	-	9	3320	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	MECOM_ENST00000494292.1_Missense_Mutation_p.A895V|MECOM_ENST00000472280.1_Missense_Mutation_p.A717V|MECOM_ENST00000460814.1_Missense_Mutation_p.A707V|MECOM_ENST00000264674.3_Missense_Mutation_p.A781V|MECOM_ENST00000468789.1_Missense_Mutation_p.A716V|MECOM_ENST00000433243.2_Missense_Mutation_p.A717V|MECOM_ENST00000392736.3_Missense_Mutation_p.A716V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTGGGAGGCGCCCTGAAGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2119-2121)gCg>gTg		MDS1 and EVI1 complex locus							76.0	71.0	73.0					3																	168819908		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819908G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2120C>T	3.37:g.168819908G>A	ENSP00000419770:p.Ala707Val					MECOM_ENST00000433243.2_Missense_Mutation_p.A717V|MECOM_ENST00000472280.1_Missense_Mutation_p.A717V|MECOM_ENST00000392736.3_Missense_Mutation_p.A716V|MECOM_ENST00000468789.1_Missense_Mutation_p.A716V|MECOM_ENST00000264674.3_Missense_Mutation_p.A781V|MECOM_ENST00000460814.1_Missense_Mutation_p.A707V|MECOM_ENST00000494292.1_Missense_Mutation_p.A895V	p.A707V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3320	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2120C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585570	0.28268	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06218	3.41;3.41;3.34;3.5;3.33;3.41;3.33;3.5	5.45	5.45	0.79879	.	0.284356	0.30235	N	0.010099	T	0.06416	0.0165	N	0.19112	0.55	0.42985	D	0.994471	B;B;B;B;B	0.22346	0.009;0.068;0.005;0.009;0.005	B;B;B;B;B	0.14578	0.011;0.008;0.005;0.006;0.004	T	0.42766	-0.9432	10	0.39692	T	0.17	-11.5182	19.688	0.95987	0.0:0.0:1.0:0.0	.	904;708;895;781;716	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	781;716;707;717;895;716;707;717	ENSP00000264674:A781V;ENSP00000376493:A716V;ENSP00000419770:A707V;ENSP00000420048:A717V;ENSP00000417899:A895V;ENSP00000419995:A716V;ENSP00000420466:A707V;ENSP00000394302:A717V	ENSP00000264674:A781V	A	-	2	0	MECOM	170302602	1.000000	0.71417	0.966000	0.40874	0.066000	0.16364	7.457000	0.80775	2.730000	0.93505	0.655000	0.94253	GCG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		17	24	0	0	0	1	0	17	24				
NKAIN3	286183	broad.mit.edu	37	8	63492147	63492147	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:63492147C>T	ENST00000523211.1	+	2	236	c.104C>T	c.(103-105)gCg>gTg	p.A35V	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35V	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A35G(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTCCAGTGGGCGCCTATTCTT	0.383																																						ENST00000523211.1																			1	Substitution - Missense(1)	p.A35G(1)	kidney(1)	kidney(3)|large_intestine(2)|lung(8)	13						c.(103-105)gCg>gTg		Na+/K+ transporting ATPase interacting 3							174.0	169.0	170.0					8																	63492147		1839	4089	5928	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63492147C>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.104C>T	8.37:g.63492147C>T	ENSP00000429073:p.Ala35Val					NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35V|NKAIN3_ENST00000519049.1_3'UTR	p.A35V	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			2	236	+	Breast(64;0.127)	Lung NSC(129;0.187)	35						Missense_Mutation	SNP	ENST00000523211.1	37	c.104C>T	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129585	0.56721	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.18338	2.22;2.22;2.22	6.01	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.41328	0.1154	M	0.81942	2.565	0.58432	D	0.999995	D	0.89917	1.0	D	0.70935	0.971	T	0.32052	-0.9921	10	0.62326	D	0.03	-23.7165	11.3653	0.49668	0.0:0.8055:0.1266:0.0679	.	35	Q8N8D7	NKAI3_HUMAN	V	35	ENSP00000429073:A35V;ENSP00000429393:A35V;ENSP00000333627:A35V	ENSP00000333627:A35V	A	+	2	0	NKAIN3	63654701	1.000000	0.71417	0.737000	0.30932	0.014000	0.08584	7.805000	0.86005	0.870000	0.35726	-0.181000	0.13052	GCG		0.383	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		6	64	0	0	0	1	0	6	64				
UFD1L	7353	broad.mit.edu	37	22	19455394	19455394	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:19455394A>G	ENST00000263202.10	-	5	552		c.e5+1		UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site|UFD1L_ENST00000484101.1_Splice_Site	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					TGAAAAAGATACACGGCTTTG	0.493																																						ENST00000263202.9																			0				large_intestine(3)|upper_aerodigestive_tract(1)	4						c.e5+1		ubiquitin fusion degradation 1 like (yeast)							120.0	121.0	120.0					22																	19455394		2203	4300	6503	SO:0001630	splice_region_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19455394A>G	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.422+1T>C	22.37:g.19455394A>G						UFD1L_ENST00000484101.1_Splice_Site|UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site		NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN			5	552	-	Colorectal(54;0.0993)							A8MW31|Q9Y5N0	Splice_Site	SNP	ENST00000263202.10	37		CCDS13761.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992789	0.74703	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5641	0.68162	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UFD1L	17835394	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.739000	0.91574	2.087000	0.62958	0.454000	0.30748	.		0.493	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		Intron	17	81	0	0	0	1	0	17	81				
ABCA2	20	broad.mit.edu	37	9	139904444	139904444	+	Silent	SNP	G	G	A	rs200952224		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139904444G>A	ENST00000371605.3	-	41	6630	c.6483C>T	c.(6481-6483)gaC>gaT	p.D2161D	ABCA2_ENST00000341511.6_Silent_p.D2162D|ABCA2_ENST00000265662.5_Silent_p.D2162D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2161	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCGGGCCTCGTCCTTCCAGG	0.692																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6484-6486)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	0,4230		0,0,2115	15.0	19.0	18.0		6486,6576	-3.0	0.8	9		18	1,8463		0,1,4231	yes	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,1,6346	AA,AG,GG		0.0118,0.0,0.0079	,	2162/2437,2192/2467	139904444	1,12693	2115	4232	6347	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904444G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6483C>T	9.37:g.139904444G>A						ABCA2_ENST00000371605.3_Silent_p.D2161D|ABCA2_ENST00000341511.6_Silent_p.D2162D	p.D2162D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6633	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2161			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6486C>T																																																																																					0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	5	0	0	0	1	0	3	5				
PRSS1	5644	broad.mit.edu	37	7	142459692	142459692	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142459692G>A	ENST00000311737.7	+	3	274	c.268G>A	c.(268-270)Gca>Aca	p.A90T	PRSS1_ENST00000486171.1_Missense_Mutation_p.A104T	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GTTCATCAATGCAGCCAAGAT	0.537																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(310-312)Gca>Aca		protease, serine, 1 (trypsin 1)							235.0	219.0	224.0					7																	142459692		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459692G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.268G>A	7.37:g.142459692G>A	ENSP00000308720:p.Ala90Thr					PRSS1_ENST00000311737.7_Missense_Mutation_p.A90T	p.A104T			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	327	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	90		L -> P (in PCTT).	Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.310G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665869	0.03428	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.92965	-3.14;-3.14;-1.52	3.28	-6.56	0.01848	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.453511	0.27604	N	0.018628	D	0.86594	0.5970	L	0.38953	1.18	0.09310	N	1	P;B	0.35600	0.511;0.359	B;B	0.43123	0.409;0.319	T	0.79045	-0.1964	10	0.36615	T	0.2	.	10.8918	0.47000	0.0823:0.0:0.1684:0.7493	.	104;90	E7EQ64;P07477	.;TRY1_HUMAN	T	104;90;80;40	ENSP00000417854:A104T;ENSP00000308720:A90T;ENSP00000419912:A40T	ENSP00000308720:A90T	A	+	1	0	PRSS1	142139266	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	-0.097000	0.11042	-2.633000	0.00433	-0.779000	0.03376	GCA		0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			56	63	0	0	0	1	0	56	63				
IFT140	9742	broad.mit.edu	37	16	1614036	1614036	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:1614036C>T	ENST00000426508.2	-	17	2392	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	677					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCCGTTTGCAGACTGAGGC	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2029-2031)Gca>Aca		intraflagellar transport 140 homolog (Chlamydomonas)							60.0	67.0	65.0					16																	1614036		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1614036C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2029G>A	16.37:g.1614036C>T	ENSP00000406012:p.Ala677Thr					IFT140_ENST00000439987.2_5'UTR	p.A677T	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			17	2392	-		Hepatocellular(780;0.219)	677					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2029G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	7.474	0.647201	0.14516	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.66099	-0.19	4.1	-0.605	0.11623	.	1.281390	0.04836	N	0.439679	T	0.43700	0.1259	N	0.20685	0.6	0.09310	N	1	B;B	0.18741	0.002;0.03	B;B	0.13407	0.002;0.009	T	0.18272	-1.0342	10	0.14656	T	0.56	.	7.6862	0.28542	0.0:0.5622:0.0:0.4378	.	677;402	Q96RY7;B4DR58	IF140_HUMAN;.	T	677	ENSP00000406012:A677T	ENSP00000380562:A677T	A	-	1	0	IFT140	1554037	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.644000	0.02002	-0.046000	0.13446	0.467000	0.42956	GCA		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		23	26	0	0	0	1	0	23	26				
VAC14	55697	broad.mit.edu	37	16	70796857	70796857	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70796857G>A	ENST00000261776.5	-	11	1492	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCCAATGGCCGTGTCACTGAG	0.577																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1231-1233)aCg>aTg		Vac14 homolog (S. cerevisiae)							123.0	93.0	103.0					16																	70796857		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70796857G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1232C>T	16.37:g.70796857G>A	ENSP00000261776:p.Thr411Met					VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	p.T411M	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			11	1492	-		Ovarian(137;0.0699)	411					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1232C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625060	0.46840	.	.	ENSG00000103043	ENST00000261776	T	0.67523	-0.27	5.81	-4.85	0.03142	Armadillo-like helical (1);Armadillo-type fold (1);	0.521615	0.24831	N	0.035243	T	0.58250	0.2109	L	0.47716	1.5	0.58432	D	0.999997	B	0.13145	0.007	B	0.06405	0.002	T	0.41893	-0.9483	10	0.45353	T	0.12	-6.7186	21.2037	0.99948	0.1258:0.0:0.8742:0.0	.	411	Q08AM6	VAC14_HUMAN	M	411	ENSP00000261776:T411M	ENSP00000261776:T411M	T	-	2	0	VAC14	69354358	0.847000	0.29606	0.854000	0.33618	0.983000	0.72400	1.364000	0.34171	-0.819000	0.04323	-0.302000	0.09304	ACG		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		11	15	0	0	0	1	0	11	15				
ZEB1	6935	broad.mit.edu	37	10	31815671	31815671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:31815671C>T	ENST00000320985.10	+	9	2964	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R953*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R885*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.R936*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R932*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	952					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R952*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAACACATGCGATTACATTC	0.363																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - Nonsense(1)	p.R952*(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2806-2808)Cga>Tga		zinc finger E-box binding homeobox 1							93.0	85.0	88.0					10																	31815671		2203	4300	6503	SO:0001587	stop_gained	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815671C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2854C>T	10.37:g.31815671C>T	ENSP00000319248:p.Arg952*					ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R932*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R952*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R953*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R885*	p.R936*	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3197	+		Prostate(175;0.0156)	952					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	ENST00000320985.10	37	c.2806C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	38	7.267156	0.98175	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.24	4.3	0.51218	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8987	14.7696	0.69665	0.1457:0.8543:0.0:0.0	.	.	.	.	X	734;952;953;947;885;952;932;843;936	.	ENSP00000319248:R952X	R	+	1	2	ZEB1	31855677	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.872000	0.56085	1.154000	0.42482	0.585000	0.79938	CGA		0.363	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		20	17	0	0	0	1	0	20	17				
DLX3	1747	broad.mit.edu	37	17	48069204	48069204	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48069204G>T	ENST00000434704.2	-	3	766	c.541C>A	c.(541-543)Cgt>Agt	p.R181S	DLX3_ENST00000512495.2_Missense_Mutation_p.R61S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	181					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AACTTGGAACGGCGGTTCTGG	0.522																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(541-543)Cgt>Agt		distal-less homeobox 3							86.0	84.0	84.0					17																	48069204		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48069204G>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.541C>A	17.37:g.48069204G>T	ENSP00000389870:p.Arg181Ser					DLX3_ENST00000512495.2_Missense_Mutation_p.R61S	p.R181S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			3	766	-			181					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.541C>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009022	0.54361	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.99304	-5.5;-5.72	4.38	3.34	0.38264	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98833	4.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97767	1.0224	10	0.87932	D	0	-22.0913	8.9231	0.35623	0.0:0.0:0.6654:0.3346	.	181	O60479	DLX3_HUMAN	S	181;61	ENSP00000389870:R181S;ENSP00000449976:R61S	ENSP00000389870:R181S	R	-	1	0	DLX3	45424203	0.934000	0.31675	0.999000	0.59377	0.899000	0.52679	1.634000	0.37123	2.280000	0.76307	0.561000	0.74099	CGT		0.522	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			23	36	1	0	2.98393e-07	1	3.1252e-07	23	36				
AGMO	392636	broad.mit.edu	37	7	15405839	15405839	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:15405839C>T	ENST00000342526.3	-	11	1252	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	361					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAGTAACTTGCGACAGTGCCT	0.403																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(1081-1083)tcG>tcA		alkylglycerol monooxygenase							44.0	39.0	41.0					7																	15405839		2203	4299	6502	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405839C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1083G>A	7.37:g.15405839C>T							p.S361S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			11	1252	-			361					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1083G>A	CCDS34604.1																																																																																				0.403	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		6	8	0	0	0	1	0	6	8				
PLK2	10769	broad.mit.edu	37	5	57751419	57751419	+	Silent	SNP	G	G	A	rs373697945		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:57751419G>A	ENST00000274289.3	-	11	1872	c.1572C>T	c.(1570-1572)acC>acT	p.T524T	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	524	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGACACCGACGGTGTGGTCTG	0.448																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1570-1572)acC>acT		polo-like kinase 2		G		0,4406		0,0,2203	86.0	80.0	82.0		1572	-11.5	0.1	5		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLK2	NM_006622.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		524/686	57751419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751419G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1572C>T	5.37:g.57751419G>A						PLK2_ENST00000502671.1_Intron	p.T524T	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	11	1872	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	524			POLO box 1.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.1572C>T	CCDS3974.1																																																																																				0.448	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		7	30	0	0	0	1	0	7	30				
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104416970G>A	ENST00000302424.7	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1513-1515)ccG>ccA		tripartite motif containing 8							49.0	45.0	46.0					10																	104416970		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416970G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1515G>A	10.37:g.104416970G>A							p.P505P	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1637	+		Colorectal(252;0.122)	505					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1515G>A	CCDS31274.1																																																																																				0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		7	12	0	0	0	1	0	7	12				
CRYGB	1419	broad.mit.edu	37	2	209010717	209010717	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:209010717G>T	ENST00000260988.4	-	2	80	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	11	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GGCCCTGGAAGGCCCTGTCCT	0.572																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(31-33)gcC>gcA		crystallin, gamma B							91.0	84.0	86.0					2																	209010717		2203	4300	6503	SO:0001819	synonymous_variant	1419				visual perception		structural constituent of eye lens	g.chr2:209010717G>T		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.33C>A	2.37:g.209010717G>T							p.A11A	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	80	-			11			Beta/gamma crystallin 'Greek key' 1.		Q17RB5|Q53ST2	Silent	SNP	ENST00000260988.4	37	c.33C>A	CCDS2380.1																																																																																				0.572	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		24	26	1	0	5.61819e-17	1	6.17723e-17	24	26				
CDH26	60437	broad.mit.edu	37	20	58564159	58564159	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:58564159C>T	ENST00000244047.5	+	9	1535	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	CDH26_ENST00000348616.4_Silent_p.G408G			Q8IXH8	CAD26_HUMAN	cadherin 26	408	Cadherin 4. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAGGAGGGCGCCAGGCCTG	0.562																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1222-1224)ggC>ggT		cadherin 26							148.0	175.0	165.0					20																	58564159		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564159C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1224C>T	20.37:g.58564159C>T						CDH26_ENST00000244047.5_Silent_p.G408G	p.G408G	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1524	+	all_lung(29;0.00963)		408			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1224C>T																																																																																					0.562	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		53	109	0	0	0	1	0	53	109				
RP11-535M15.2	0	broad.mit.edu	37	9	99489025	99489025	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99489025G>A	ENST00000602289.1	+	0	14																											AAGTGCATTCGCAAGTGGAGC	0.483																																						ENST00000602289.1																			0																																																			0							g.chr9:99489025G>A																													9.37:g.99489025G>A														0	14	+									RNA	SNP	ENST00000602289.1	37																																																																																						0.483	RP11-535M15.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467352.1			6	17	0	0	0	1	0	6	17				
YAE1D1	57002	broad.mit.edu	37	7	39612284	39612284	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:39612284A>G	ENST00000223273.2	+	3	703	c.660A>G	c.(658-660)ttA>ttG	p.L220L	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	220																	TAGATGTATTACAACACCTCA	0.383																																						ENST00000223273.2																			0											c.(658-660)ttA>ttG		Yae1 domain containing 1							67.0	67.0	67.0					7																	39612284		2203	4300	6503	SO:0001819	synonymous_variant	57002							g.chr7:39612284A>G	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.660A>G	7.37:g.39612284A>G						YAE1D1_ENST00000432096.2_Intron	p.L220L	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN			3	703	+			220					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	37	c.660A>G	CCDS5459.1																																																																																				0.383	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		27	31	0	0	0	1	0	27	31				
SMTN	6525	broad.mit.edu	37	22	31501210	31501210	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31501210C>T	ENST00000347557.2	+	0	3130				SELM_ENST00000400299.2_Missense_Mutation_p.R88H|SELM_ENST00000465536.1_5'UTR|SELM_ENST00000402395.1_Missense_Mutation_p.R88H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTCCTCGTAGCGGCGGCCCAG	0.692																																						ENST00000402395.1																			0											c.(262-264)cGc>cAc									15.0	18.0	17.0					22																	31501210		1906	4087	5993	SO:0001628	intergenic_variant	0							g.chr22:31501210C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203		22.37:g.31501210C>T						RP3-412A9.11_ENST00000400299.2_Missense_Mutation_p.R88H|RP3-412A9.11_ENST00000465536.1_5'UTR	p.R88H							6	680	-								O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.263G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159830	0.21454	.	.	ENSG00000198832	ENST00000402395;ENST00000400299	.	.	.	4.64	-1.27	0.09347	Thioredoxin-like fold (1);	0.546209	0.20853	N	0.084487	T	0.24928	0.0605	L	0.29908	0.895	0.09310	N	0.999994	B	0.11235	0.004	B	0.10450	0.005	T	0.26121	-1.0112	9	0.14656	T	0.56	-27.2285	10.3621	0.44001	0.0:0.4336:0.0:0.5664	.	88	Q8WWX9	SELM_HUMAN	H	88	.	ENSP00000383155:R88H	R	-	2	0	RP3-412A9.11	29831210	0.942000	0.31987	0.001000	0.08648	0.976000	0.68499	0.631000	0.24568	-0.082000	0.12640	0.561000	0.74099	CGC		0.692	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		7	16	0	0	0	1	0	7	16				
UTRN	7402	broad.mit.edu	37	6	144838070	144838070	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144838070T>C	ENST00000367545.3	+	38	5527	c.5527T>C	c.(5527-5529)Tac>Cac	p.Y1843H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1843					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCATACTAGATACAACAAAAT	0.333																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5527-5529)Tac>Cac		utrophin							66.0	68.0	67.0					6																	144838070		2203	4297	6500	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144838070T>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5527T>C	6.37:g.144838070T>C	ENSP00000356515:p.Tyr1843His						p.Y1843H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	38	5527	+		Ovarian(120;0.218)	1843					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5527T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	7.661	0.684917	0.14973	.	.	ENSG00000152818	ENST00000367545	T	0.36520	1.25	5.77	3.17	0.36434	.	0.136815	0.33813	N	0.004537	T	0.08935	0.0221	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.10109	-1.0644	10	0.15952	T	0.53	.	8.8422	0.35148	0.0:0.2349:0.0:0.7651	.	1843	P46939	UTRO_HUMAN	H	1843	ENSP00000356515:Y1843H	ENSP00000356515:Y1843H	Y	+	1	0	UTRN	144879763	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	2.179000	0.42528	1.128000	0.42052	0.528000	0.53228	TAC		0.333	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			27	25	0	0	0	1	0	27	25				
SSH1	54434	broad.mit.edu	37	12	109182308	109182308	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:109182308C>T	ENST00000326495.5	-	15	2699	c.2606G>A	c.(2605-2607)gGc>gAc	p.G869D	SSH1_ENST00000360239.3_Missense_Mutation_p.G557D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	869					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCAGGGGGCCCAGCTCGTG	0.672																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2605-2607)gGc>gAc		slingshot protein phosphatase 1							21.0	26.0	24.0					12																	109182308		2202	4297	6499	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182308C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2606G>A	12.37:g.109182308C>T	ENSP00000315713:p.Gly869Asp					SSH1_ENST00000360239.3_Missense_Mutation_p.G557D	p.G869D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2699	-			869					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2606G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146431	0.01714	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.11604	2.92;2.76	4.69	1.72	0.24424	.	4.361770	0.00357	N	0.000030	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B;P	0.37276	0.047;0.589	B;B	0.33620	0.015;0.167	T	0.29212	-1.0019	10	0.12430	T	0.62	-1.3798	4.4432	0.11584	0.1533:0.3425:0.4173:0.0869	.	869;557	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	D	557;869	ENSP00000353374:G557D;ENSP00000315713:G869D	ENSP00000315713:G869D	G	-	2	0	SSH1	107706437	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.284000	0.08422	0.265000	0.21872	0.655000	0.94253	GGC		0.672	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	8	0	0	0	1	0	6	8				
CROCCP3	114819	broad.mit.edu	37	1	16803488	16803488	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16803488G>A	ENST00000263511.4	-	0	2268					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCAGTGTGGCGCGGCTCAGCG	0.642																																						ENST00000263511.4																			0																																																			0							g.chr1:16803488G>A	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16803488G>A								NR_023386.1						0	2268	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.642	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		4	4	0	0	0	1	0	4	4				
DYNC1LI2	1783	broad.mit.edu	37	16	66770078	66770078	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66770078G>T	ENST00000258198.2	-	5	805	c.599C>A	c.(598-600)cCt>cAt	p.P200H	RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.P161H|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P123H|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TGAGGTCAGAGGGCCTCTTCT	0.483																																						ENST00000258198.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15						c.(598-600)cCt>cAt		dynein, cytoplasmic 1, light intermediate chain 2							117.0	109.0	111.0					16																	66770078		2200	4300	6500	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66770078G>T	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.599C>A	16.37:g.66770078G>T	ENSP00000258198:p.Pro200His					DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.P161H|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P123H	p.P200H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	5	805	-		Ovarian(137;0.0563)	200					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.599C>A	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464290	0.84425	.	.	ENSG00000135720	ENST00000258198;ENST00000443351;ENST00000440564	T;T;T	0.18174	2.23;2.23;2.23	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.973;1.0;0.996	D;P;D;D	0.97110	1.0;0.796;0.979;0.967	T	0.12708	-1.0537	10	0.72032	D	0.01	-23.2823	19.2279	0.93824	0.0:0.0:1.0:0.0	.	161;200;123;200	B4E2E0;B4DHD8;B4DZP4;O43237	.;.;.;DC1L2_HUMAN	H	200;123;161	ENSP00000258198:P200H;ENSP00000394289:P123H;ENSP00000408566:P161H	ENSP00000258198:P200H	P	-	2	0	DYNC1LI2	65327579	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.329000	0.79170	2.771000	0.95319	0.563000	0.77884	CCT		0.483	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		16	20	1	0	2.32078e-09	1	2.46314e-09	16	20				
ZNF781	163115	broad.mit.edu	37	19	38160644	38160644	+	Missense_Mutation	SNP	C	C	T	rs149425681		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38160644C>T	ENST00000590008.1	-	5	1258	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.G136R			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GTGAATTTTCCGATGTCTATT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		21702	0.0		0.001	False		,,,				2504	0.0					ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(406-408)Gga>Aga		zinc finger protein 781		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	130.0	131.0	131.0		406	-0.9	0.1	19	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF781	NM_152605.3	125	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	136/328	38160644	3,13003	2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160644C>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.406G>A	19.37:g.38160644C>T	ENSP00000466370:p.Gly136Arg					ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.G136R	p.G136R	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1154	-			136					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.406G>A	CCDS12507.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.832395	0.32421	4.54E-4	1.16E-4	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.04970	3.52	1.85	-0.88	0.10610	.	.	.	.	.	T	0.01454	0.0047	N	0.00387	-1.565	0.21627	N	0.999619	D	0.54047	0.964	B	0.38194	0.267	T	0.44559	-0.9320	9	0.51188	T	0.08	-0.0686	5.6998	0.17875	0.0:0.295:0.0:0.705	.	136	Q8N8C0	ZN781_HUMAN	R	136	ENSP00000351391:G136R	ENSP00000351391:G136R	G	-	1	0	ZNF781	42852484	0.007000	0.16637	0.147000	0.22382	0.241000	0.25554	0.029000	0.13666	-0.445000	0.07159	-0.624000	0.04008	GGA		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		36	48	0	0	0	1	0	36	48				
DHCR24	1718	broad.mit.edu	37	1	55340837	55340837	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55340837C>T	ENST00000371269.3	-	4	639	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	DHCR24_ENST00000535035.1_Missense_Mutation_p.G140S|DHCR24_ENST00000537443.1_Missense_Mutation_p.G13S	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	181	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGAACAGGCCGTACTTGTGG	0.562																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(541-543)Ggc>Agc		24-dehydrocholesterol reductase							194.0	136.0	156.0					1																	55340837		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55340837C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.541G>A	1.37:g.55340837C>T	ENSP00000360316:p.Gly181Ser					DHCR24_ENST00000537443.1_Missense_Mutation_p.G13S|DHCR24_ENST00000535035.1_Missense_Mutation_p.G140S	p.G181S	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			4	639	-			181			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.541G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545595	0.96488	.	.	ENSG00000116133	ENST00000371269;ENST00000537443;ENST00000535035	D;D;D	0.95342	-3.68;-3.68;-3.68	5.56	5.56	0.83823	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.75484	0.986;0.986;0.962	D	0.98132	1.0431	10	0.87932	D	0	-7.9588	19.9047	0.97002	0.0:1.0:0.0:0.0	.	140;140;181	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	S	181;13;140	ENSP00000360316:G181S;ENSP00000439852:G13S;ENSP00000440191:G140S	ENSP00000360316:G181S	G	-	1	0	DHCR24	55113425	1.000000	0.71417	0.986000	0.45419	0.899000	0.52679	7.805000	0.86005	2.790000	0.95986	0.609000	0.83330	GGC		0.562	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		17	41	0	0	0	1	0	17	41				
SEC63	11231	broad.mit.edu	37	6	108214837	108214837	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108214837C>A	ENST00000369002.4	-	16	1702	c.1523G>T	c.(1522-1524)aGg>aTg	p.R508M		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	508	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCTTTTGTCCTGTTCTTGTT	0.348																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1522-1524)aGg>aTg		SEC63 homolog (S. cerevisiae)							164.0	166.0	165.0					6																	108214837		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214837C>A	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1523G>T	6.37:g.108214837C>A	ENSP00000357998:p.Arg508Met						p.R508M	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1702	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	508			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1523G>T	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780371	0.49891	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.63255	-0.03	5.38	-0.843	0.10744	Sec63 domain (2);	0.183650	0.64402	D	0.000018	T	0.27098	0.0664	N	0.08118	0	0.32663	N	0.51787	P;P	0.38677	0.5;0.642	B;P	0.45343	0.42;0.477	T	0.19451	-1.0305	10	0.48119	T	0.1	-6.2127	9.4482	0.38710	0.0:0.2325:0.0:0.7675	.	508;508	Q9UGP8;B3KQF0	SEC63_HUMAN;.	M	508;159;368	ENSP00000357998:R508M	ENSP00000357998:R508M	R	-	2	0	SEC63	108321530	1.000000	0.71417	0.862000	0.33874	0.975000	0.68041	0.842000	0.27627	-0.008000	0.14320	0.563000	0.77884	AGG		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		6	115	1	0	1.12685e-05	1	1.16601e-05	6	115				
PTPRCAP	5790	broad.mit.edu	37	11	67203470	67203470	+	Missense_Mutation	SNP	C	C	T	rs138577657	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67203470C>T	ENST00000326294.3	-	2	802	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	AP003419.16_ENST00000535922.1_RNA|CORO1B_ENST00000539724.1_5'Flank	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A119T(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCACCATCCGCGACGTGGTCA	0.657													C|||	8	0.00159744	0.0061	0.0	5008	,	,		18574	0.0		0.0	False		,,,				2504	0.0					ENST00000326294.3																			1	Substitution - Missense(1)	p.A119T(1)	skin(1)	skin(1)|upper_aerodigestive_tract(1)	2						c.(355-357)Gcg>Acg		protein tyrosine phosphatase, receptor type, C-associated protein		C	THR/ALA	13,4387	20.2+/-43.8	0,13,2187	76.0	60.0	65.0		355	-3.7	0.0	11	dbSNP_134	65	0,8590		0,0,4295	yes	missense	PTPRCAP	NM_005608.2	58	0,13,6482	TT,TC,CC		0.0,0.2955,0.1001	benign	119/207	67203470	13,12977	2200	4295	6495	SO:0001583	missense	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203470C>T		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.355G>A	11.37:g.67203470C>T	ENSP00000325589:p.Ala119Thr						p.A119T	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	802	-			119					B2R512|O00643|Q6I9S6	Missense_Mutation	SNP	ENST00000326294.3	37	c.355G>A	CCDS8163.1	15	0.006868131868131868	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	1.632	-0.518762	0.04171	0.002955	0.0	ENSG00000213402	ENST00000326294	T	0.42900	0.96	1.86	-3.72	0.04411	.	2.400400	0.02861	N	0.130297	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	B	0.34824	0.19	T	0.10019	-1.0648	10	0.12766	T	0.61	-2.7357	2.3275	0.04226	0.261:0.3311:0.0:0.4079	.	119	Q14761	PTCA_HUMAN	T	119	ENSP00000325589:A119T	ENSP00000325589:A119T	A	-	1	0	PTPRCAP	66960046	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.513000	0.00957	-0.806000	0.04398	-2.897000	0.00093	GCG		0.657	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		9	17	0	0	0	1	0	9	17				
ATP8B2	57198	broad.mit.edu	37	1	154317603	154317603	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:154317603G>A	ENST00000368489.3	+	22	2542	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	834					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTGGAGACGGAGCCAATGA	0.572											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2542-2544)Gga>Aga		ATPase, aminophospholipid transporter, class I, type 8B, member 2							147.0	145.0	145.0					1																	154317603		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317603G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2542G>A	1.37:g.154317603G>A	ENSP00000357475:p.Gly848Arg		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.G848R	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		22	2542	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		834					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2542G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074978	0.94000	.	.	ENSG00000143515	ENST00000368489	T	0.72615	-0.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94728	0.7907	10	0.87932	D	0	.	17.6312	0.88108	0.0:0.0:1.0:0.0	.	848	P98198-3	.	R	848	ENSP00000357475:G848R	ENSP00000357475:G848R	G	+	1	0	ATP8B2	152584227	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	9.657000	0.98554	2.739000	0.93911	0.655000	0.94253	GGA		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		29	55	0	0	0	1	0	29	55				
FBXO40	51725	broad.mit.edu	37	3	121345607	121345607	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121345607G>A	ENST00000338040.4	+	4	2394	c.1980G>A	c.(1978-1980)atG>atA	p.M660I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	660					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCACCTCCATGTCTGAGCACC	0.463																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1978-1980)atG>atA		F-box protein 40							145.0	145.0	145.0					3																	121345607		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345607G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1980G>A	3.37:g.121345607G>A	ENSP00000337510:p.Met660Ile						p.M660I	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2394	+			660					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1980G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801793	0.70682	.	.	ENSG00000163833	ENST00000338040	T	0.32515	1.45	6.17	6.17	0.99709	F-box domain, Skp2-like (1);	0.117881	0.85682	D	0.000000	T	0.49236	0.1545	L	0.45352	1.415	0.45777	D	0.998663	D	0.67145	0.996	D	0.75484	0.986	T	0.12578	-1.0542	10	0.35671	T	0.21	-21.8586	18.3732	0.90420	0.0:0.0:1.0:0.0	.	660	Q9UH90	FBX40_HUMAN	I	660	ENSP00000337510:M660I	ENSP00000337510:M660I	M	+	3	0	FBXO40	122828297	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.874000	0.87199	2.941000	0.99782	0.655000	0.94253	ATG		0.463	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		51	76	0	0	0	1	0	51	76				
MADD	8567	broad.mit.edu	37	11	47308006	47308006	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:47308006T>C	ENST00000311027.5	+	15	2739	c.2574T>C	c.(2572-2574)agT>agC	p.S858S	MADD_ENST00000402192.2_Silent_p.S858S|MADD_ENST00000406482.1_Silent_p.S815S|MADD_ENST00000402799.1_Silent_p.S815S|MADD_ENST00000342922.4_Silent_p.S858S|MADD_ENST00000395344.3_Silent_p.S815S|MADD_ENST00000407859.3_Silent_p.S815S|MADD_ENST00000349238.3_Silent_p.S858S|MADD_ENST00000395336.3_Silent_p.S858S	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGAACCACAGTACCAGCTTCA	0.507																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2572-2574)agT>agC		MAP-kinase activating death domain							219.0	192.0	201.0					11																	47308006		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47308006T>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2574T>C	11.37:g.47308006T>C						MADD_ENST00000402192.2_Silent_p.S858S|MADD_ENST00000395336.3_Silent_p.S858S|MADD_ENST00000402799.1_Silent_p.S815S|MADD_ENST00000406482.1_Silent_p.S815S|MADD_ENST00000311027.5_Silent_p.S858S|MADD_ENST00000349238.3_Silent_p.S858S|MADD_ENST00000407859.3_Silent_p.S815S|MADD_ENST00000395344.3_Silent_p.S815S	p.S858S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	15	2931	+			858						Silent	SNP	ENST00000311027.5	37	c.2574T>C	CCDS7930.1																																																																																				0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			40	52	0	0	0	1	0	40	52				
KMT2A	4297	broad.mit.edu	37	11	118366536	118366536	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118366536G>T	ENST00000389506.5	+	19	5476	c.5476G>T	c.(5476-5478)Gct>Tct	p.A1826S	KMT2A_ENST00000354520.4_Missense_Mutation_p.A1788S|KMT2A_ENST00000534358.1_Missense_Mutation_p.A1829S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1826					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)										AATCATTCCAGCTCCCAAACC	0.493																																						ENST00000534358.1																			0											c.(5485-5487)Gct>Tct		lysine (K)-specific methyltransferase 2A							161.0	170.0	167.0					11																	118366536		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118366536G>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.5476G>T	11.37:g.118366536G>T	ENSP00000374157:p.Ala1826Ser					KMT2A_ENST00000389506.5_Missense_Mutation_p.A1826S|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1788S	p.A1829S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					19	5508	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5485G>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204950	0.79127	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83673	-1.74;-1.75;-1.66	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.965;0.999	P;D	0.78314	0.885;0.991	D	0.88632	0.3170	10	0.59425	D	0.04	.	19.7971	0.96490	0.0:0.0:1.0:0.0	.	1829;1826	E9PQG7;Q03164	.;MLL1_HUMAN	S	1829;1826;1788;736	ENSP00000436786:A1829S;ENSP00000374157:A1826S;ENSP00000346516:A1788S	ENSP00000346516:A1788S	A	+	1	0	MLL	117871746	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.669000	0.98622	2.762000	0.94881	0.484000	0.47621	GCT		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		55	67	1	0	7.05995e-25	1	7.87918e-25	55	67				
HEPACAM2	253012	broad.mit.edu	37	7	92848481	92848481	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92848481G>A	ENST00000394468.2	-	2	440	c.363C>T	c.(361-363)atC>atT	p.I121I	HEPACAM2_ENST00000440868.1_Silent_p.I109I|HEPACAM2_ENST00000341723.4_Silent_p.I109I|HEPACAM2_ENST00000453812.2_Silent_p.I144I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	121					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGACCTTCACGATGTAATTGC	0.483																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(361-363)atC>atT		HEPACAM family member 2							143.0	117.0	126.0					7																	92848481		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92848481G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.363C>T	7.37:g.92848481G>A						HEPACAM2_ENST00000453812.2_Silent_p.I144I|HEPACAM2_ENST00000440868.1_Silent_p.I109I|HEPACAM2_ENST00000341723.4_Silent_p.I109I	p.I121I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			2	440	-			121					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.363C>T	CCDS43616.1																																																																																				0.483	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		19	46	0	0	0	1	0	19	46				
GALNT15	117248	broad.mit.edu	37	3	16268936	16268936	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:16268936C>A	ENST00000339732.5	+	10	2352	c.1849C>A	c.(1849-1851)Ctg>Atg	p.L617M	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	617	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGATTTGTACCTGCGTCCGTG	0.413																																						ENST00000339732.5																			0											c.(1849-1851)Ctg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							125.0	125.0	125.0					3																	16268936		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16268936C>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1849C>A	3.37:g.16268936C>A	ENSP00000344260:p.Leu617Met					GALNT15_ENST00000437509.1_Intron	p.L617M	NM_054110.4	NP_473451.3					10	2352	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1849C>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	6.927	0.540760	0.13250	.	.	ENSG00000131386	ENST00000339732;ENST00000543679	T	0.33654	1.4	5.51	-1.43	0.08884	Ricin B-related lectin (1);Ricin B lectin (3);	0.158882	0.40064	N	0.001189	T	0.44664	0.1304	L	0.58428	1.81	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.46289	-0.9202	10	0.10902	T	0.67	.	8.9147	0.35574	0.0:0.4454:0.0:0.5546	.	617	Q8N3T1	GLTL2_HUMAN	M	617;147	ENSP00000344260:L617M	ENSP00000344260:L617M	L	+	1	2	GALNTL2	16243940	0.824000	0.29247	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	-0.114000	0.11936	-0.290000	0.09829	CTG		0.413	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		4	66	1	0	0.000602214	1	0.000612743	4	66				
BRD1	23774	broad.mit.edu	37	22	50187716	50187716	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50187716G>A	ENST00000216267.8	-	6	2811	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	BRD1_ENST00000342989.5_Silent_p.D370D|BRD1_ENST00000404034.1_Silent_p.D775D|BRD1_ENST00000457780.2_Silent_p.D775D|BRD1_ENST00000542442.1_Silent_p.D463D|BRD1_ENST00000404760.1_Silent_p.D775D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	775					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCAGCTCCGTCCTCTTCGA	0.652																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2323-2325)gaC>gaT		bromodomain containing 1							34.0	38.0	37.0					22																	50187716		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187716G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2325C>T	22.37:g.50187716G>A						BRD1_ENST00000342989.5_Silent_p.D370D|BRD1_ENST00000404034.1_Silent_p.D775D|BRD1_ENST00000542442.1_Silent_p.D463D|BRD1_ENST00000404760.1_Silent_p.D775D|BRD1_ENST00000457780.2_Silent_p.D775D	p.D775D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2811	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	775					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.2325C>T	CCDS14080.1																																																																																				0.652	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		15	17	0	0	0	1	0	15	17				
ESCO1	114799	broad.mit.edu	37	18	19110307	19110307	+	Silent	SNP	C	C	T	rs576285603		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19110307C>T	ENST00000269214.5	-	12	3457	c.2520G>A	c.(2518-2520)acG>acA	p.T840T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	840					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTTGTTTTACGTGCTATTCT	0.383													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14290	0.0		0.0	False		,,,				2504	0.0					ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2518-2520)acG>acA		establishment of sister chromatid cohesion N-acetyltransferase 1							54.0	57.0	56.0					18																	19110307		2203	4300	6503	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19110307C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2520G>A	18.37:g.19110307C>T							p.T840T	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			12	3457	-			840					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.2520G>A	CCDS32800.1																																																																																				0.383	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		19	32	0	0	0	1	0	19	32				
TRDMT1	1787	broad.mit.edu	37	10	17210864	17210864	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:17210864C>T	ENST00000377799.3	-	3	274	c.227G>A	c.(226-228)aGc>aAc	p.S76N	TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.S76N|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.S76N	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	76	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GCAGGGAGGGCTCATTAAAAT	0.383																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(226-228)aGc>aAc		tRNA aspartic acid methyltransferase 1							71.0	70.0	70.0					10																	17210864		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17210864C>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.227G>A	10.37:g.17210864C>T	ENSP00000367030:p.Ser76Asn					TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.S76N|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.S76N	p.S76N	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			3	274	-			76					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.227G>A	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000279	0.93227	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.992;0.999;0.999	D	0.94764	0.7939	10	0.87932	D	0	-14.846	19.9975	0.97389	0.0:1.0:0.0:0.0	.	5;76;76;76	B7Z1Y7;O14717-3;O14717-2;O14717	.;.;.;TRDMT_HUMAN	N	76;76;76;58	ENSP00000367030:S76N;ENSP00000409354:S76N;ENSP00000324328:S76N;ENSP00000431476:S58N	ENSP00000324328:S76N	S	-	2	0	TRDMT1	17250870	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.366000	0.73095	2.827000	0.97445	0.650000	0.86243	AGC		0.383	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		10	16	0	0	0	1	0	10	16				
FZD7	8324	broad.mit.edu	37	2	202900778	202900778	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:202900778C>T	ENST00000286201.1	+	1	1469	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	470					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCTCATGGTGCGCATCGGCGT	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1408-1410)Cgc>Tgc		frizzled family receptor 7							106.0	83.0	91.0					2																	202900778		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900778C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1408C>T	2.37:g.202900778C>T	ENSP00000286201:p.Arg470Cys		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R470C	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1469	+			470					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1408C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683633	0.68157	.	.	ENSG00000155760	ENST00000286201	D	0.86366	-2.11	5.67	4.78	0.61160	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97193	0.9859	10	0.87932	D	0	.	16.5498	0.84470	0.0:0.8694:0.1306:0.0	.	470	O75084	FZD7_HUMAN	C	470	ENSP00000286201:R470C	ENSP00000286201:R470C	R	+	1	0	FZD7	202609023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	1.369000	0.46134	0.655000	0.94253	CGC		0.617	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		40	37	0	0	0	1	0	40	37				
MTMR9	66036	broad.mit.edu	37	8	11163708	11163708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:11163708C>T	ENST00000221086.3	+	5	1074	c.601C>T	c.(601-603)Cga>Tga	p.R201*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R116*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	201	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			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)		GGTAATTATGCGAAGTGGTCA	0.418																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(601-603)Cga>Tga		myotubularin related protein 9							63.0	58.0	60.0					8																	11163708		2203	4300	6503	SO:0001587	stop_gained	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163708C>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.601C>T	8.37:g.11163708C>T	ENSP00000221086:p.Arg201*					MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R116*	p.R201*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1074	+			201			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Nonsense_Mutation	SNP	ENST00000221086.3	37	c.601C>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	39	7.878624	0.98539	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9437	0.71014	0.1432:0.8568:0.0:0.0	.	.	.	.	X	201;116	.	ENSP00000221086:R201X	R	+	1	2	MTMR9	11201118	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.958000	0.70330	2.600000	0.87896	0.563000	0.77884	CGA		0.418	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		5	18	0	0	0	1	0	5	18				
ATG9A	79065	broad.mit.edu	37	2	220089410	220089410	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220089410A>G	ENST00000409618.1	-	8	1122	c.683T>C	c.(682-684)cTg>cCg	p.L228P	ATG9A_ENST00000396761.2_Missense_Mutation_p.L228P|ATG9A_ENST00000361242.4_Missense_Mutation_p.L228P|ATG9A_ENST00000409422.1_Missense_Mutation_p.L167P|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	228					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCAGAGGCAGGAGGGATTT	0.552																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(682-684)cTg>cCg		autophagy related 9A							90.0	95.0	93.0					2																	220089410		2107	4235	6342	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089410A>G	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.683T>C	2.37:g.220089410A>G	ENSP00000386710:p.Leu228Pro					ATG9A_ENST00000361242.4_Missense_Mutation_p.L228P|ATG9A_ENST00000409422.1_Missense_Mutation_p.L167P|ATG9A_ENST00000396761.2_Missense_Mutation_p.L228P	p.L228P			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1122	-		Renal(207;0.0474)	228					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.683T>C	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559662	0.65538	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715	T;T;T;T	0.60548	0.57;0.57;0.57;0.18	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.81014	0.4735	H	0.94183	3.505	0.80722	D	1	D	0.63046	0.992	D	0.64144	0.922	D	0.86747	0.1958	10	0.87932	D	0	.	14.5761	0.68249	1.0:0.0:0.0:0.0	.	228	Q7Z3C6	ATG9A_HUMAN	P	228;228;228;167;132	ENSP00000379983:L228P;ENSP00000386710:L228P;ENSP00000355173:L228P;ENSP00000386535:L167P	ENSP00000355173:L228P	L	-	2	0	ATG9A	219797654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.293000	0.96082	1.917000	0.55516	0.533000	0.62120	CTG		0.552	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		23	31	0	0	0	1	0	23	31				
ACN9	57001	broad.mit.edu	37	7	96747188	96747188	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:96747188G>T	ENST00000360382.4	+	1	154	c.153G>T	c.(151-153)caG>caT	p.Q51H	ACN9_ENST00000432641.2_Missense_Mutation_p.Q51H					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					ACGAGGCACAGCGTTTCTTGC	0.552																																						ENST00000432641.2																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10						c.(151-153)caG>caT		ACN9 homolog (S. cerevisiae)							121.0	106.0	111.0					7																	96747188		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96747188G>T	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.153G>T	7.37:g.96747188G>T	ENSP00000353548:p.Gln51His					ACN9_ENST00000360382.4_Missense_Mutation_p.Q51H	p.Q51H	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN			1	1287	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		51						Missense_Mutation	SNP	ENST00000360382.4	37	c.153G>T		.	.	.	.	.	.	.	.	.	.	G	19.70	3.877086	0.72180	.	.	ENSG00000196636	ENST00000432641;ENST00000360382	.	.	.	4.97	4.09	0.47781	.	0.524987	0.19898	N	0.103587	T	0.64216	0.2578	M	0.70275	2.135	0.43824	D	0.99639	P	0.42941	0.794	P	0.49140	0.601	T	0.65018	-0.6270	9	0.45353	T	0.12	-3.5179	11.0192	0.47707	0.0882:0.0:0.9118:0.0	.	51	Q9NRP4	ACN9_HUMAN	H	51	.	ENSP00000353548:Q51H	Q	+	3	2	ACN9	96585124	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.364000	0.44187	1.472000	0.48140	0.655000	0.94253	CAG		0.552	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		33	31	1	0	1.02151e-06	1	1.06508e-06	33	31				
MLLT6	4302	broad.mit.edu	37	17	36879020	36879020	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:36879020C>T	ENST00000325718.7	+	18	2973	c.2882C>T	c.(2881-2883)cCg>cTg	p.P961L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	961	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCTGACCCCGGTAATGCCC	0.642			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.e18+1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							46.0	40.0	42.0					17																	36879020		2203	4300	6503	SO:0001630	splice_region_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36879020C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2883+1C>T	17.37:g.36879020C>T							p.P961_splice	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			18	2973	+	Breast(7;4.43e-21)		961			Gln-rich.		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Splice_Site	SNP	ENST00000325718.7	37	c.2883_splice	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484292	0.63962	.	.	ENSG00000108292	ENST00000325718	T	0.60299	0.2	5.2	5.2	0.72013	.	0.176809	0.50627	D	0.000110	T	0.56978	0.2022	M	0.65498	2.005	0.52501	D	0.999955	D	0.57571	0.98	B	0.42462	0.388	T	0.65183	-0.6230	10	0.87932	D	0	.	13.2163	0.59863	0.0:0.8401:0.1599:0.0	.	961	P55198	AF17_HUMAN	L	961	ENSP00000316426:P961L	ENSP00000316426:P961L	P	+	2	0	MLLT6	34132546	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.606000	0.46291	2.698000	0.92095	0.561000	0.74099	CCG		0.642	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937	Missense_Mutation	4	11	0	0	0	1	0	4	11				
GAL	51083	broad.mit.edu	37	11	68456356	68456356	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68456356G>A	ENST00000265643.3	+	5	521	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	88					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AATATCATGCGCACAATCATT	0.403																																						ENST00000265643.3																			0				lung(4)	4						c.(262-264)cGc>cAc		galanin/GMAP prepropeptide							183.0	153.0	164.0					11																	68456356		2200	4294	6494	SO:0001583	missense	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68456356G>A	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.263G>A	11.37:g.68456356G>A	ENSP00000265643:p.Arg88His						p.R88H	NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	5	521	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	88					Q14413	Missense_Mutation	SNP	ENST00000265643.3	37	c.263G>A	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276468	0.40294	.	.	ENSG00000069482	ENST00000265643	T	0.52526	0.66	3.94	3.02	0.34903	Galanin message associated peptide (GMAP) (2);	0.060180	0.64402	D	0.000002	T	0.36054	0.0953	L	0.45581	1.43	0.25197	N	0.990083	B	0.25206	0.12	B	0.19666	0.026	T	0.18935	-1.0321	10	0.33141	T	0.24	-16.7377	7.8807	0.29621	0.1158:0.0:0.8842:0.0	.	88	P22466	GALA_HUMAN	H	88	ENSP00000265643:R88H	ENSP00000265643:R88H	R	+	2	0	GAL	68212932	0.987000	0.35691	0.382000	0.26119	0.062000	0.15995	1.746000	0.38288	0.996000	0.38943	0.655000	0.94253	CGC		0.403	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		37	46	0	0	0	1	0	37	46				
HAUS6	54801	broad.mit.edu	37	9	19058263	19058263	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19058263G>A	ENST00000380502.3	-	16	2969	c.2502C>T	c.(2500-2502)cgC>cgT	p.R834R	HAUS6_ENST00000380496.1_Silent_p.R698R	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	834					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGTATCTACTGCGAAGAGCCT	0.448																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2500-2502)cgC>cgT		HAUS augmin-like complex, subunit 6							108.0	110.0	109.0					9																	19058263		2203	4300	6503	SO:0001819	synonymous_variant	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058263G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2502C>T	9.37:g.19058263G>A						HAUS6_ENST00000380496.1_Silent_p.R698R	p.R834R	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			16	2969	-			834					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	c.2502C>T	CCDS6489.1																																																																																				0.448	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		43	91	0	0	0	1	0	43	91				
SIGLEC1	6614	broad.mit.edu	37	20	3682283	3682283	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:3682283G>A	ENST00000344754.4	-	6	1233	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P412S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	412	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGTGAGAGGCGGGTCTGTG	0.612																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1234-1236)Cct>Tct		sialic acid binding Ig-like lectin 1, sialoadhesin							34.0	34.0	34.0					20																	3682283		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682283G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1234C>T	20.37:g.3682283G>A	ENSP00000341141:p.Pro412Ser					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P412S	p.P412S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			6	1233	-			412			Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1234C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844582	0.51164	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.35236	1.34;1.32	5.79	5.79	0.91817	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000901	T	0.66771	0.2823	M	0.86740	2.835	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71213	-0.4659	10	0.66056	D	0.02	.	17.5373	0.87835	0.0:0.0:1.0:0.0	.	412;412	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	S	412	ENSP00000341141:P412S;ENSP00000202578:P412S	ENSP00000202578:P412S	P	-	1	0	SIGLEC1	3630283	1.000000	0.71417	0.914000	0.36105	0.007000	0.05969	5.947000	0.70242	2.731000	0.93534	0.650000	0.86243	CCT		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		6	10	0	0	0	1	0	6	10				
PTPRN	5798	broad.mit.edu	37	2	220161053	220161053	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220161053G>A	ENST00000295718.2	-	18	2643	c.2403C>T	c.(2401-2403)agC>agT	p.S801S	PTPRN_ENST00000423636.2_Silent_p.S711S|PTPRN_ENST00000497977.1_5'UTR|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.S772S|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	801	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGTGCAGCCGCTCTCCCACA	0.607																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2401-2403)agC>agT		protein tyrosine phosphatase, receptor type, N							118.0	102.0	108.0					2																	220161053		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161053G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2403C>T	2.37:g.220161053G>A						PTPRN_ENST00000423636.2_Silent_p.S711S|PTPRN_ENST00000409251.3_Silent_p.S772S|PTPRN_ENST00000497977.1_5'UTR	p.S801S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	18	2643	-		Renal(207;0.0474)	801			Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2403C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755506	0.15846	.	.	ENSG00000054356	ENST00000443981	.	.	.	4.66	-0.4	0.12411	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49000	-0.8984	4	.	.	.	.	9.5615	0.39371	0.7517:0.0:0.2483:0.0	.	.	.	.	V	4	.	.	A	-	2	0	PTPRN	219869297	0.995000	0.38212	0.996000	0.52242	0.974000	0.67602	0.455000	0.21843	-0.146000	0.11274	-1.099000	0.02127	GCG		0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			27	33	0	0	0	1	0	27	33				
ASB1	51665	broad.mit.edu	37	2	239344584	239344584	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344584C>T	ENST00000264607.4	+	3	671	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	142					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGAAGCCGGCACCATCGCAG	0.637																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(424-426)Cac>Tac		ankyrin repeat and SOCS box containing 1							39.0	37.0	38.0					2																	239344584		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344584C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.424C>T	2.37:g.239344584C>T	ENSP00000264607:p.His142Tyr					ASB1_ENST00000409297.1_Intron	p.H142Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	671	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	142					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.424C>T	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150404	0.57151	.	.	ENSG00000065802	ENST00000264607	T	0.63913	-0.07	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.044446	0.85682	D	0.000000	T	0.64394	0.2594	N	0.16833	0.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56282	-0.8005	10	0.06494	T	0.89	.	19.5867	0.95492	0.0:1.0:0.0:0.0	.	142	Q9Y576	ASB1_HUMAN	Y	142	ENSP00000264607:H142Y	ENSP00000264607:H142Y	H	+	1	0	ASB1	239009323	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.347000	0.65998	2.633000	0.89246	0.655000	0.94253	CAC		0.637	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		5	8	0	0	0	1	0	5	8				
HHLA2	11148	broad.mit.edu	37	3	108072521	108072521	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:108072521G>A	ENST00000357759.5	+	4	726	c.312G>A	c.(310-312)gcG>gcA	p.A104A	HHLA2_ENST00000467761.1_Silent_p.A104A|HHLA2_ENST00000489514.2_Silent_p.A104A|HHLA2_ENST00000491820.1_Silent_p.A104A|HHLA2_ENST00000467562.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	104	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATGGGAATGCGTCGCTATTTT	0.403																																						ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(310-312)gcG>gcA		HERV-H LTR-associating 2							95.0	89.0	91.0					3																	108072521		1880	4113	5993	SO:0001819	synonymous_variant	11148					integral to membrane		g.chr3:108072521G>A	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.312G>A	3.37:g.108072521G>A						HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Silent_p.A104A|HHLA2_ENST00000467761.1_Silent_p.A104A|HHLA2_ENST00000491820.1_Silent_p.A104A	p.A104A	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			4	726	+			104			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	c.312G>A	CCDS46883.1	.	.	.	.	.	.	.	.	.	.	G	1.479	-0.557791	0.03967	.	.	ENSG00000114455	ENST00000482099	.	.	.	5.45	-1.1	0.09872	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24225	-1.0166	4	.	.	.	-12.7028	1.5258	0.02525	0.1318:0.3833:0.1329:0.352	.	.	.	.	I	7	.	.	V	+	1	0	HHLA2	109555211	0.962000	0.33011	0.908000	0.35775	0.025000	0.11179	-0.119000	0.10676	-0.265000	0.09352	-2.052000	0.00405	GTC		0.403	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		12	24	0	0	0	1	0	12	24				
DOCK11	139818	broad.mit.edu	37	X	117788703	117788703	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:117788703G>A	ENST00000276202.7	+	43	4897	c.4834G>A	c.(4834-4836)Gca>Aca	p.A1612T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A1612T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1612	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGTCCTATGCAAGCACCCC	0.433																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(4834-4836)Gca>Aca		dedicator of cytokinesis 11							94.0	86.0	89.0					X																	117788703		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788703G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4834G>A	X.37:g.117788703G>A	ENSP00000276202:p.Ala1612Thr					DOCK11_ENST00000276202.7_Missense_Mutation_p.A1612T	p.A1612T			Q5JSL3	DOC11_HUMAN			43	4908	+			1612			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4834G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095940	0.56075	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18657	2.2;2.2	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.86343	2.81	0.58432	D	0.999998	B;B	0.14012	0.009;0.009	B;B	0.25759	0.063;0.063	T	0.31943	-0.9925	10	0.48119	T	0.1	-11.9222	17.5152	0.87771	0.0:0.0:1.0:0.0	.	1612;1612	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1612	ENSP00000276204:A1612T;ENSP00000276202:A1612T	ENSP00000276202:A1612T	A	+	1	0	DOCK11	117672731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.949000	0.63596	2.062000	0.61559	0.600000	0.82982	GCA		0.433	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		41	5	0	0	0	1	0	41	5				
TMEM168	64418	broad.mit.edu	37	7	112423833	112423833	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112423833G>A	ENST00000312814.6	-	2	1608	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	TMEM168_ENST00000454074.1_Missense_Mutation_p.R350C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAAAAATGGCGCATCCCTTTG	0.403																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1048-1050)Cgc>Tgc		transmembrane protein 168							149.0	152.0	151.0					7																	112423833		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423833G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1048C>T	7.37:g.112423833G>A	ENSP00000323068:p.Arg350Cys					TMEM168_ENST00000454074.1_Missense_Mutation_p.R350C	p.R350C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1608	-			350					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1048C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309934	0.60414	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000441474	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78846	-0.2043	9	0.87932	D	0	-19.8485	20.6593	0.99626	0.0:0.0:1.0:0.0	.	350	Q9H0V1	TM168_HUMAN	C	350;350;2	.	ENSP00000323068:R350C	R	-	1	0	TMEM168	112211069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.332000	0.65911	2.885000	0.99019	0.655000	0.94253	CGC		0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		51	75	0	0	0	1	0	51	75				
SORCS1	114815	broad.mit.edu	37	10	108389096	108389096	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:108389096C>T	ENST00000263054.6	-	19	2533	c.2526G>A	c.(2524-2526)gcG>gcA	p.A842A	SORCS1_ENST00000369698.1_Silent_p.A377A|SORCS1_ENST00000344440.6_Silent_p.A842A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	842	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGTAAGACACCGCGATACCAT	0.502																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2524-2526)gcG>gcA		sortilin-related VPS10 domain containing receptor 1							169.0	118.0	135.0					10																	108389096		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389096C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2526G>A	10.37:g.108389096C>T						SORCS1_ENST00000344440.6_Silent_p.A842A|SORCS1_ENST00000369698.1_Silent_p.A377A	p.A842A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2533	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	842			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2526G>A	CCDS7559.1																																																																																				0.502	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	33	0	0	0	1	0	4	33				
ZNF611	81856	broad.mit.edu	37	19	53208330	53208330	+	Missense_Mutation	SNP	C	C	T	rs200121663	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53208330C>T	ENST00000319783.1	-	7	2294	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	ZNF611_ENST00000453741.2_Missense_Mutation_p.V591M|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591M|ZNF611_ENST00000602162.1_Missense_Mutation_p.V591M|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660M|ZNF611_ENST00000543227.1_Missense_Mutation_p.V660M	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GAATTACGCACGAAAGCCTTG	0.408													-|||	3	0.000599042	0.0023	0.0	5008	,	,		24527	0.0		0.0	False		,,,				2504	0.0					ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1978-1980)Gtg>Atg		zinc finger protein 611		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	160.0	154.0	156.0		1978,1978,1771,1978	-2.9	0.0	19		156	1,8599		0,1,4299	no	missense,missense,missense,missense	ZNF611	NM_001161499.1,NM_001161500.1,NM_001161501.1,NM_030972.3	21,21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	660/706,660/706,591/637,660/706	53208330	1,13005	2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208330C>T	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1978G>A	19.37:g.53208330C>T	ENSP00000322427:p.Val660Met					ZNF611_ENST00000319783.1_Missense_Mutation_p.V660M|ZNF611_ENST00000602162.1_Missense_Mutation_p.V591M|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660M|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591M|ZNF611_ENST00000453741.2_Missense_Mutation_p.V591M	p.V660M	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2252	-			660					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1978G>A	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	6.736	0.504617	0.12822	0.0	1.16E-4	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	1.46	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.35487	1.065	0.09310	N	1	P	0.52316	0.952	B	0.42343	0.384	T	0.19451	-1.0305	9	0.62326	D	0.03	.	3.2044	0.06661	0.1985:0.2285:0.0:0.573	.	660	Q8N823	ZN611_HUMAN	M	660;660;591;660	ENSP00000437616:V660M;ENSP00000439211:V660M;ENSP00000443505:V591M;ENSP00000322427:V660M	ENSP00000322427:V660M	V	-	1	0	ZNF611	57900142	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.392000	0.07314	-0.384000	0.07845	0.194000	0.17425	GTG		0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		54	86	0	0	0	1	0	54	86				
TENM2	57451	broad.mit.edu	37	5	167643796	167643796	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:167643796C>T	ENST00000518659.1	+	22	4141	c.4102C>T	c.(4102-4104)Ctc>Ttc	p.L1368F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1129F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1367F|TENM2_ENST00000519204.1_Missense_Mutation_p.L1247F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1192F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1368					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAAGAATGGGCTCATGTACTT	0.537																																						ENST00000519204.1																			0											c.(3739-3741)Ctc>Ttc		teneurin transmembrane protein 2							91.0	92.0	91.0					5																	167643796		2046	4195	6241	SO:0001583	missense	57451							g.chr5:167643796C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4102C>T	5.37:g.167643796C>T	ENSP00000429430:p.Leu1368Phe					TENM2_ENST00000403607.2_Missense_Mutation_p.L1192F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1367F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1129F|TENM2_ENST00000518659.1_Missense_Mutation_p.L1368F	p.L1247F							21	3857	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3739C>T		.	.	.	.	.	.	.	.	.	.	C	14.95	2.688665	0.48097	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	N	0.15975	0.35	0.53688	D	0.999977	B;B;D	0.76494	0.289;0.19;0.999	B;B;D	0.80764	0.234;0.118;0.994	D	0.90094	0.4179	10	0.28530	T	0.3	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1367;1368;1129	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	1368;1367;1247;1129;1192	ENSP00000429430:L1368F;ENSP00000438635:L1367F;ENSP00000428964:L1247F;ENSP00000427874:L1129F;ENSP00000384905:L1192F	ENSP00000384905:L1192F	L	+	1	0	ODZ2	167576374	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	3.976000	0.56867	2.542000	0.85734	0.655000	0.94253	CTC		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		13	34	0	0	0	1	0	13	34				
GABBR1	2550	broad.mit.edu	37	6	29599357	29599357	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:29599357C>T	ENST00000377034.4	-	3	440	c.105G>A	c.(103-105)ccG>ccA	p.P35P	GABBR1_ENST00000377016.4_Silent_p.P35P|GABBR1_ENST00000376977.3_Silent_p.P35P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	35	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CTTCCCAGGGCGGGTGTATGA	0.592																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(103-105)ccG>ccA		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						60.0	66.0	64.0					6																	29599357		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29599357C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.105G>A	6.37:g.29599357C>T						GABBR1_ENST00000377016.4_Silent_p.P35P|GABBR1_ENST00000376977.3_Silent_p.P35P	p.P35P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			3	440	-			35			Sushi 1.		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.105G>A	CCDS4663.1																																																																																				0.592	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			18	39	0	0	0	1	0	18	39				
FERMT3	83706	broad.mit.edu	37	11	63990633	63990633	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:63990633A>G	ENST00000279227.5	+	14	1891	c.1796A>G	c.(1795-1797)cAg>cGg	p.Q599R	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Missense_Mutation_p.Q595R	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	599					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AACATGCGCCAGTGGAATGTC	0.622																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1795-1797)cAg>cGg		fermitin family member 3							97.0	76.0	83.0					11																	63990633		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990633A>G	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1796A>G	11.37:g.63990633A>G	ENSP00000279227:p.Gln599Arg					FERMT3_ENST00000345728.5_Missense_Mutation_p.Q595R	p.Q599R	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			14	1891	+			599					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1796A>G	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229142	0.79688	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	T;T;T	0.73681	-0.77;-0.77;-0.77	5.09	5.09	0.68999	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.61387	1.9	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.72982	0.979;0.954	T	0.77456	-0.2581	10	0.07325	T	0.83	-33.1663	14.1441	0.65339	1.0:0.0:0.0:0.0	.	595;599	Q86UX7-2;Q86UX7	.;URP2_HUMAN	R	595;599;116	ENSP00000339950:Q595R;ENSP00000279227:Q599R;ENSP00000440209:Q116R	ENSP00000279227:Q599R	Q	+	2	0	FERMT3	63747209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.049000	0.60858	0.459000	0.35465	CAG		0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		19	23	0	0	0	1	0	19	23				
TRABD	80305	broad.mit.edu	37	22	50636868	50636868	+	Missense_Mutation	SNP	C	C	A	rs532584202		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50636868C>A	ENST00000303434.4	+	10	1170	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	TRABD_ENST00000395827.1_Missense_Mutation_p.R351S|TRABD_ENST00000395829.1_Missense_Mutation_p.R351S|RP3-402G11.26_ENST00000608025.1_RNA|SELO_ENST00000380903.2_5'Flank|TRABD_ENST00000380909.4_Missense_Mutation_p.R351S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	351										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGATGGGCCGCCGCACCGC	0.711																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(1051-1053)Cgc>Agc		TraB domain containing							9.0	12.0	11.0					22																	50636868		2161	4249	6410	SO:0001583	missense	80305							g.chr22:50636868C>A	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.1051C>A	22.37:g.50636868C>A	ENSP00000305664:p.Arg351Ser					TRABD_ENST00000395829.1_Missense_Mutation_p.R351S|TRABD_ENST00000380909.4_Missense_Mutation_p.R351S|TRABD_ENST00000395827.1_Missense_Mutation_p.R351S	p.R351S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	10	1170	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	351					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	c.1051C>A	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	c	13.80	2.344789	0.41498	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	.	.	.	4.33	2.07	0.26955	.	0.568107	0.17753	N	0.163178	T	0.24586	0.0596	L	0.41492	1.28	0.22629	N	0.998917	B;P	0.38992	0.153;0.653	B;B	0.39660	0.037;0.306	T	0.10291	-1.0636	9	0.09084	T	0.74	-28.134	7.3137	0.26489	0.178:0.7236:0.0:0.0983	.	305;351	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	S	351	.	ENSP00000305664:R351S	R	+	1	0	TRABD	48978995	1.000000	0.71417	0.977000	0.42913	0.782000	0.44232	2.520000	0.45554	1.022000	0.39626	-0.265000	0.10407	CGC		0.711	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		3	4	1	0	0.115264	1	0.115739	3	4				
TRIM7	81786	broad.mit.edu	37	5	180622224	180622224	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:180622224C>T	ENST00000274773.7	-	7	1539	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	TRIM7_ENST00000422067.2_Missense_Mutation_p.R285H|TRIM7_ENST00000393319.3_Missense_Mutation_p.R311H|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.R285H|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.R285H|CTC-338M12.5_ENST00000514487.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	493	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGGGAACACGCGCTCCTGGAA	0.647																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(853-855)cGc>cAc		tripartite motif containing 7							64.0	44.0	51.0					5																	180622224		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622224C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1478G>A	5.37:g.180622224C>T	ENSP00000274773:p.Arg493His					TRIM7_ENST00000361809.3_Missense_Mutation_p.R285H|TRIM7_ENST00000274773.7_Missense_Mutation_p.R493H|TRIM7_ENST00000393319.3_Missense_Mutation_p.R311H|TRIM7_ENST00000422067.2_Missense_Mutation_p.R285H|TRIM7_ENST00000504241.1_5'UTR	p.R285H	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1551	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	493					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.854G>A	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686042	0.68157	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.07	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.267217	0.26463	N	0.024229	T	0.78342	0.4268	M	0.88105	2.93	0.30001	N	0.815982	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.78471	-0.2191	10	0.66056	D	0.02	.	13.0414	0.58901	0.0:0.8366:0.1634:0.0	.	493;311	Q9C029;Q9C029-4	TRIM7_HUMAN;.	H	493;285;285;311;285	ENSP00000274773:R493H;ENSP00000376991:R285H;ENSP00000355059:R285H;ENSP00000376994:R311H;ENSP00000391458:R285H	ENSP00000274773:R493H	R	-	2	0	TRIM7	180554830	0.000000	0.05858	0.871000	0.34182	0.996000	0.88848	0.705000	0.25675	1.085000	0.41206	0.478000	0.44815	CGC		0.647	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		3	9	0	0	0	1	0	3	9				
AKAP6	9472	broad.mit.edu	37	14	33015926	33015926	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:33015926G>A	ENST00000280979.4	+	4	2237	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	AKAP6_ENST00000557272.1_Silent_p.K689K|AKAP6_ENST00000557354.1_Silent_p.K689K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	689					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCAAAAAGAAGCATACAAGGC	0.443																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(2065-2067)aaG>aaA		A kinase (PRKA) anchor protein 6							106.0	102.0	103.0					14																	33015926		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015926G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2067G>A	14.37:g.33015926G>A						AKAP6_ENST00000557354.1_Silent_p.K689K|AKAP6_ENST00000557272.1_Silent_p.K689K	p.K689K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	2237	+	Breast(36;0.0388)|Prostate(35;0.15)		689					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.2067G>A	CCDS9644.1																																																																																				0.443	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		24	56	0	0	0	1	0	24	56				
MEF2C	4208	broad.mit.edu	37	5	88119602	88119602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:88119602C>T	ENST00000437473.2	-	2	421	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	MEF2C_ENST00000506554.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2R|MEF2C_ENST00000424173.2_Missense_Mutation_p.G2R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2R|MEF2C_ENST00000539796.1_Missense_Mutation_p.G2R|MEF2C_ENST00000504921.2_Missense_Mutation_p.G2R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	2					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTTTTTCTCCCCATAGTCCCC	0.338										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(4-6)Ggg>Agg		myocyte enhancer factor 2C							287.0	288.0	288.0					5																	88119602		1827	4076	5903	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119602C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.4G>A	5.37:g.88119602C>T	ENSP00000396219:p.Gly2Arg	HNSCC(66;0.2)				MEF2C_ENST00000424173.2_Missense_Mutation_p.G2R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G2R|MEF2C_ENST00000506554.1_Missense_Mutation_p.G2R|MEF2C_ENST00000437473.2_Missense_Mutation_p.G2R|MEF2C_ENST00000539796.1_Missense_Mutation_p.G2R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G2R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G2R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G2R	p.G2R			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	676	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	2					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.4G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371572	0.82573	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99207	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-5.56	5.12	5.12	0.69794	Transcription factor, MADS-box (3);	0.045544	0.85682	D	0.000000	D	0.99625	0.9863	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.973;1.0;0.999;1.0	D	0.97752	1.0215	10	0.87932	D	0	-4.8137	18.9236	0.92536	0.0:1.0:0.0:0.0	.	2;2;2;2	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	R	2	ENSP00000340874:G2R;ENSP00000389610:G2R;ENSP00000421925:G2R;ENSP00000426665:G2R;ENSP00000396219:G2R;ENSP00000422390:G2R;ENSP00000425636:G2R;ENSP00000423597:G2R;ENSP00000424606:G2R;ENSP00000441153:G2R;ENSP00000423826:G2R;ENSP00000423656:G2R;ENSP00000424331:G2R;ENSP00000427163:G2R;ENSP00000426442:G2R;ENSP00000427286:G2R;ENSP00000426465:G2R;ENSP00000427309:G2R	ENSP00000340874:G2R	G	-	1	0	MEF2C	88155358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.543000	0.85770	0.591000	0.81541	GGG		0.338	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		42	98	0	0	0	1	0	42	98				
PHLDB1	23187	broad.mit.edu	37	11	118531315	118531315	+	IGR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118531315C>T	ENST00000361417.2	+	0	5753				TREH_ENST00000530256.1_Silent_p.V222V|TREH_ENST00000525958.1_Silent_p.V314V|TREH_ENST00000264029.4_Silent_p.V345V|TREH_ENST00000397925.1_Silent_p.V314V|TREH_ENST00000529101.1_Silent_p.V345V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTCAACAGGCACCAGTTTGC	0.567																																						ENST00000529101.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1033-1035)gtG>gtA		trehalase (brush-border membrane glycoprotein)							58.0	63.0	62.0					11																	118531315		2081	4215	6296	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118531315C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118531315C>T						TREH_ENST00000525958.1_Silent_p.V314V|TREH_ENST00000530256.1_Silent_p.V222V|TREH_ENST00000397925.1_Silent_p.V314V|TREH_ENST00000264029.4_Silent_p.V345V	p.V345V			O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	10	1080	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	345					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1035G>A	CCDS8401.1																																																																																				0.567	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		5	9	0	0	0	1	0	5	9				
SYTL3	94120	broad.mit.edu	37	6	159129420	159129420	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:159129420C>T	ENST00000297239.9	+	7	707	c.513C>T	c.(511-513)ggC>ggT	p.G171G	SYTL3_ENST00000360448.3_Silent_p.G171G|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	171					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCAGTCCTGGCAGGGTAACGT	0.557																																						ENST00000297239.9																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(511-513)ggC>ggT		synaptotagmin-like 3							96.0	83.0	88.0					6																	159129420		2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159129420C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.513C>T	6.37:g.159129420C>T						SYTL3_ENST00000360448.3_Silent_p.G171G|SYTL3_ENST00000367081.3_Intron	p.G171G			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	7	707	+		Breast(66;0.000776)|Ovarian(120;0.0303)	171					Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.513C>T	CCDS56458.1																																																																																				0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			5	24	0	0	0	1	0	5	24				
ZNF609	23060	broad.mit.edu	37	15	64962553	64962553	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:64962553G>A	ENST00000326648.3	+	3	1110	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	328						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGATGTTGGTGGTAAATGT	0.423																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(982-984)Gtg>Atg		zinc finger protein 609							276.0	229.0	245.0					15																	64962553		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64962553G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.982G>A	15.37:g.64962553G>A	ENSP00000316527:p.Val328Met					ZNF609_ENST00000559364.1_3'UTR	p.V328M	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			3	1110	+			328					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.982G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190610	0.94923	.	.	ENSG00000180357	ENST00000326648	T	0.69926	-0.44	5.34	5.34	0.76211	.	0.129801	0.53938	D	0.000050	T	0.82010	0.4944	M	0.76328	2.33	0.80722	D	1	D	0.56521	0.976	D	0.69142	0.962	D	0.84011	0.0348	10	0.87932	D	0	-29.4156	19.0415	0.93002	0.0:0.0:1.0:0.0	.	328	O15014	ZN609_HUMAN	M	328	ENSP00000316527:V328M	ENSP00000316527:V328M	V	+	1	0	ZNF609	62749606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.766000	0.98957	2.487000	0.83934	0.655000	0.94253	GTG		0.423	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		29	25	0	0	0	1	0	29	25				
ANKK1	255239	broad.mit.edu	37	11	113270280	113270280	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:113270280C>A	ENST00000303941.3	+	8	1683	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	530							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGAGAACACCACTGCACCTG	0.612																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1588-1590)cCa>cAa		ankyrin repeat and kinase domain containing 1							37.0	43.0	41.0					11																	113270280		2044	4196	6240	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270280C>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1589C>A	11.37:g.113270280C>A	ENSP00000306678:p.Pro530Gln						p.P530Q	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1683	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	530						Missense_Mutation	SNP	ENST00000303941.3	37	c.1589C>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878293	0.72294	.	.	ENSG00000170209	ENST00000303941	T	0.22134	1.97	4.73	4.73	0.59995	Ankyrin repeat-containing domain (3);	0.107858	0.40908	D	0.000997	T	0.61899	0.2384	H	0.97103	3.94	0.41578	D	0.988722	D	0.89917	1.0	D	0.87578	0.998	T	0.77133	-0.2700	10	0.87932	D	0	-22.1052	16.8663	0.86029	0.0:1.0:0.0:0.0	.	530	Q8NFD2	ANKK1_HUMAN	Q	530	ENSP00000306678:P530Q	ENSP00000306678:P530Q	P	+	2	0	ANKK1	112775490	0.873000	0.30073	0.382000	0.26119	0.911000	0.54048	5.722000	0.68485	2.466000	0.83321	0.563000	0.77884	CCA		0.612	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		5	4	1	0	0.00116845	1	0.0011864	5	4				
ZNF468	90333	broad.mit.edu	37	19	53345180	53345180	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53345180T>C	ENST00000595646.1	-	4	487	c.367A>G	c.(367-369)Aca>Gca	p.T123A	ZNF468_ENST00000390651.4_Missense_Mutation_p.T70A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.T70A|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTTGGCCTGTACTACCAGCC	0.428																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(367-369)Aca>Gca		zinc finger protein 468							215.0	195.0	202.0					19																	53345180		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345180T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.367A>G	19.37:g.53345180T>C	ENSP00000470381:p.Thr123Ala					ZNF468_ENST00000390651.4_Missense_Mutation_p.T70A|ZNF468_ENST00000396409.4_Missense_Mutation_p.T70A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR	p.T123A			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	487	-			123					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.367A>G	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	t	3.180	-0.168162	0.06461	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.06449	3.3;3.3	1.2	1.2	0.21068	.	.	.	.	.	T	0.10035	0.0246	L	0.42245	1.32	0.09310	N	1	P	0.52463	0.953	D	0.65443	0.935	T	0.19321	-1.0309	9	0.06494	T	0.89	.	3.3086	0.07009	0.3709:0.0:0.0:0.6291	.	123	Q5VIY5	ZN468_HUMAN	A	123;70;70	ENSP00000379690:T70A;ENSP00000445669:T70A	ENSP00000243639:T123A	T	-	1	0	ZNF468	58036992	0.000000	0.05858	0.011000	0.14972	0.013000	0.08279	-0.286000	0.08399	0.788000	0.33755	0.147000	0.16070	ACA		0.428	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		5	218	0	0	0	1	0	5	218				
CDCA2	157313	broad.mit.edu	37	8	25365068	25365068	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:25365068C>T	ENST00000330560.3	+	15	3363	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.G947G	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	962					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAGCCAGGGCCCTGCTGCTG	0.478																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2884-2886)ggC>ggT		cell division cycle associated 2							172.0	192.0	185.0					8																	25365068		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365068C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2886C>T	8.37:g.25365068C>T						CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.G947G	p.G962G	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3363	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	962					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.2886C>T	CCDS6049.1																																																																																				0.478	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		87	136	0	0	0	1	0	87	136				
ZFHX3	463	broad.mit.edu	37	16	72828024	72828024	+	Missense_Mutation	SNP	C	C	T	rs200701402		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72828024C>T	ENST00000268489.5	-	9	9229	c.8557G>A	c.(8557-8559)Gca>Aca	p.A2853T	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1939T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2853					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A2853T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGTTATCTGCGTTGCCCTCG	0.473																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.A2853T(1)	large_intestine(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8557-8559)Gca>Aca		zinc finger homeobox 3		C	THR/ALA,THR/ALA	0,4396		0,0,2198	272.0	224.0	241.0		5815,8557	6.0	1.0	16		241	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	58,58	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1939/2790,2853/3704	72828024	1,12995	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828024C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8557G>A	16.37:g.72828024C>T	ENSP00000268489:p.Ala2853Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1939T	p.A2853T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9229	-		Ovarian(137;0.13)	2853					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8557G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671655	0.29693	0.0	1.16E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73897	-0.79;-0.77	5.96	5.96	0.96718	.	0.000000	0.49916	D	0.000136	T	0.54598	0.1868	N	0.14661	0.345	0.42677	D	0.993535	P	0.48640	0.913	B	0.34038	0.174	T	0.58929	-0.7549	10	0.09590	T	0.72	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	2853	Q15911	ZFHX3_HUMAN	T	2853;1939	ENSP00000268489:A2853T;ENSP00000438926:A1939T	ENSP00000268489:A2853T	A	-	1	0	ZFHX3	71385525	0.993000	0.37304	0.991000	0.47740	0.882000	0.50991	3.289000	0.51747	2.823000	0.97156	0.650000	0.86243	GCA		0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		55	66	0	0	0	1	0	55	66				
NSFL1C	55968	broad.mit.edu	37	20	1426346	1426346	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:1426346G>A	ENST00000216879.4	-	8	1782	c.915C>T	c.(913-915)ggC>ggT	p.G305G	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.G307G|NSFL1C_ENST00000381658.4_Silent_p.G194G|NSFL1C_ENST00000353088.2_Silent_p.G274G|NSFL1C_ENST00000350991.4_Silent_p.G307G	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	305	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CCAGCCTCCCGCCGTCTGCAA	0.517																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(913-915)ggC>ggT		NSFL1 (p97) cofactor (p47)							165.0	159.0	161.0					20																	1426346		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426346G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.915C>T	20.37:g.1426346G>A						NSFL1C_ENST00000350991.4_Silent_p.G307G|NSFL1C_ENST00000381658.4_Silent_p.G194G|NSFL1C_ENST00000353088.2_Silent_p.G274G|NSFL1C_ENST00000476071.1_Silent_p.G307G|NSFL1C_ENST00000461211.1_5'UTR	p.G305G	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1782	-			305			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.915C>T	CCDS13015.1																																																																																				0.517	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		101	37	0	0	0	1	0	101	37				
CCAR2	57805	broad.mit.edu	37	8	22465543	22465543	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22465543C>T	ENST00000308511.4	+	7	798	c.549C>T	c.(547-549)gcC>gcT	p.A183A	CCAR2_ENST00000389279.3_Silent_p.A183A|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	183					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GATTTCCTGCCCGGGGCCCTC	0.463																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(547-549)gcC>gcT									162.0	180.0	174.0					8																	22465543		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22465543C>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.549C>T	8.37:g.22465543C>T						KIAA1967_ENST00000389279.3_Silent_p.A183A|KIAA1967_ENST00000520861.1_5'UTR	p.A183A			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	7	798	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	183					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.549C>T	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618859	0.28801	.	.	ENSG00000158941	ENST00000518989	.	.	.	5.82	-1.92	0.07618	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45041	-0.9288	4	.	.	.	-14.8312	6.6853	0.23142	0.0:0.4187:0.1369:0.4444	.	.	.	.	S	136	.	.	P	+	1	0	KIAA1967	22521488	0.989000	0.36119	0.997000	0.53966	0.995000	0.86356	-0.098000	0.11024	-0.098000	0.12285	-0.302000	0.09304	CCG		0.463	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		73	140	0	0	0	1	0	73	140				
MYH11	4629	broad.mit.edu	37	16	15826541	15826541	+	Silent	SNP	C	C	T	rs149980738	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:15826541C>T	ENST00000300036.5	-	27	3640	c.3531G>A	c.(3529-3531)acG>acA	p.T1177T	MYH11_ENST00000452625.2_Silent_p.T1184T|MYH11_ENST00000396324.3_Silent_p.T1184T|MYH11_ENST00000576790.2_Silent_p.T1177T|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1177					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCAGCACCGTCACCTCCT	0.587			T	CBFB	AML								C|||	7	0.00139776	0.0008	0.0	5008	,	,		19783	0.0		0.0	False		,,,				2504	0.0061					ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3529-3531)acG>acA		myosin, heavy chain 11, smooth muscle		C	,,,	2,4392	4.2+/-10.8	0,2,2195	162.0	115.0	131.0		3552,3552,3531,3531	-9.3	0.7	16	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	,,,	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	,,,	1184/1946,1184/1980,1177/1973,1177/1939	15826541	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15826541C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3531G>A	16.37:g.15826541C>T						MYH11_ENST00000576790.1_Silent_p.T1177T|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Silent_p.T1184T|MYH11_ENST00000396324.3_Silent_p.T1184T|MYH11_ENST00000300036.5_Silent_p.T1177T	p.T1177T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			27	3637	-			1177					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3531G>A	CCDS10565.1																																																																																				0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		20	24	0	0	0	1	0	20	24				
PCDHGC3	5098	broad.mit.edu	37	5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140857013C>T	ENST00000308177.3	+	1	1434	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R444C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522																																						ENST00000308177.3																			2	Substitution - Missense(2)	p.R444C(2)	large_intestine(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1330-1332)Cgt>Tgt									124.0	124.0	124.0					5																	140857013		2203	4300	6503	SO:0001583	missense	0							g.chr5:140857013C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1330C>T	5.37:g.140857013C>T	ENSP00000312070:p.Arg444Cys					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.R444C	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1434	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.1330C>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984037	0.18889	.	.	ENSG00000240184	ENST00000308177	T	0.54279	0.58	5.19	0.914	0.19360	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.48095	0.1481	M	0.62209	1.925	0.09310	N	1	P;D	0.57257	0.941;0.979	B;B	0.43360	0.417;0.409	T	0.37384	-0.9708	9	0.38643	T	0.18	.	8.9568	0.35823	0.4851:0.4446:0.0:0.0703	.	444;444	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	C	444	ENSP00000312070:R444C	ENSP00000312070:R444C	R	+	1	0	PCDHGC3	140837197	0.000000	0.05858	0.134000	0.22075	0.431000	0.31685	0.205000	0.17356	0.362000	0.24319	0.655000	0.94253	CGT		0.522	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		27	30	0	0	0	1	0	27	30				
SETD5	55209	broad.mit.edu	37	3	9515129	9515129	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9515129C>A	ENST00000406341.1	+	19	3595	c.3405C>A	c.(3403-3405)tcC>tcA	p.S1135S	SETD5_ENST00000302463.6_Silent_p.S1037S|SETD5_ENST00000402198.1_Silent_p.S1135S|SETD5_ENST00000407969.1_Silent_p.S1154S|SETD5_ENST00000402466.1_Silent_p.S1037S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1135	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CATCTCATTCCTCTATGTCCC	0.507																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3109-3111)tcC>tcA		SET domain containing 5							79.0	78.0	79.0					3																	9515129		1914	4141	6055	SO:0001819	synonymous_variant	55209							g.chr3:9515129C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3405C>A	3.37:g.9515129C>A						SETD5_ENST00000406341.1_Silent_p.S1135S|SETD5_ENST00000302463.6_Silent_p.S1037S|SETD5_ENST00000407969.1_Silent_p.S1154S|SETD5_ENST00000402198.1_Silent_p.S1135S	p.S1037S			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	21	3879	+	Medulloblastoma(99;0.227)		1135					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.3111C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264191	0.23136	.	.	ENSG00000168137	ENST00000399686	.	.	.	6.07	4.3	0.51218	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59783	-0.7389	4	.	.	.	-11.4804	11.5873	0.50925	0.0:0.8042:0.0:0.1958	.	.	.	.	I	803	.	.	L	+	1	0	SETD5	9490129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.601000	0.24119	0.916000	0.36871	-0.225000	0.12378	CTC		0.507	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	11	1	0	0.184627	1	0.185007	5	11				
KCNJ5	3762	broad.mit.edu	37	11	128781383	128781383	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:128781383G>A	ENST00000338350.4	+	3	567	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R72Q|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R72Q			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	72					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GAGACCTACCGGTACCTGAGT	0.597																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(214-216)cGg>cAg		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						138.0	113.0	122.0					11																	128781383		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781383G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.215G>A	11.37:g.128781383G>A	ENSP00000339960:p.Arg72Gln					KCNJ5_ENST00000533599.1_Missense_Mutation_p.R72Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R72Q	p.R72Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	591	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	72					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.215G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170548	0.94807	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.96745	-4.11;-4.11;-4.11	5.34	5.34	0.76211	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.99461	1.0943	10	0.87932	D	0	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	72	P48544	IRK5_HUMAN	Q	72	ENSP00000433295:R72Q;ENSP00000339960:R72Q;ENSP00000434266:R72Q	ENSP00000339960:R72Q	R	+	2	0	KCNJ5	128286593	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.869000	0.99810	2.505000	0.84491	0.650000	0.86243	CGG		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		32	46	0	0	0	1	0	32	46				
LRBA	987	broad.mit.edu	37	4	151829826	151829826	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:151829826C>T	ENST00000357115.3	-	10	1588	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	LRBA_ENST00000510413.1_Missense_Mutation_p.A449T|LRBA_ENST00000535741.1_Missense_Mutation_p.A449T|LRBA_ENST00000507224.1_Missense_Mutation_p.A449T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	449						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCATGAGTGCATGTGGTGAA	0.383																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1345-1347)Gca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							140.0	133.0	135.0					4																	151829826		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151829826C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1345G>A	4.37:g.151829826C>T	ENSP00000349629:p.Ala449Thr					LRBA_ENST00000357115.3_Missense_Mutation_p.A449T|LRBA_ENST00000507224.1_Missense_Mutation_p.A449T|LRBA_ENST00000510413.1_Missense_Mutation_p.A449T	p.A449T			P50851	LRBA_HUMAN			10	1818	-	all_hematologic(180;0.151)		449					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1345G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163879	0.94727	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.48	5.48	0.80851	.	0.141869	0.47093	D	0.000260	T	0.81959	0.4933	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.83755	0.0211	10	0.72032	D	0.01	.	19.7083	0.96083	0.0:1.0:0.0:0.0	.	449;449;449	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	449	ENSP00000446299:A449T;ENSP00000421552:A449T;ENSP00000349629:A449T;ENSP00000422180:A449T	ENSP00000349629:A449T	A	-	1	0	LRBA	152049276	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.016000	0.70798	2.726000	0.93360	0.563000	0.77884	GCA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			25	36	0	0	0	1	0	25	36				
TMEM8A	58986	broad.mit.edu	37	16	425225	425225	+	Silent	SNP	G	G	A	rs547389411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:425225G>A	ENST00000431232.2	-	8	1507	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	TMEM8A_ENST00000250930.3_Silent_p.S256S|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	449					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GAGACCAGGCGCTCAGAGACA	0.642																																						ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1345-1347)agC>agT		transmembrane protein 8A							69.0	64.0	66.0					16																	425225		2202	4300	6502	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:425225G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1347C>T	16.37:g.425225G>A						TMEM8A_ENST00000250930.3_Silent_p.S256S	p.S449S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			8	1507	-			449					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1347C>T	CCDS10407.1																																																																																				0.642	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		15	14	0	0	0	1	0	15	14				
ACSM3	6296	broad.mit.edu	37	16	20797543	20797543	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20797543C>T	ENST00000289416.5	+	9	1699				ACSM3_ENST00000567387.1_Intron|ACSM3_ENST00000440284.2_Silent_p.R429R|ACSM3_ENST00000450120.2_Intron|ERI2_ENST00000300005.3_Intron|RNU6-944P_ENST00000364023.1_RNA	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CTACCTACCGCTTACCCCCAT	0.363																																						ENST00000440284.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1285-1287)cgC>cgT		acyl-CoA synthetase medium-chain family member 3							79.0	76.0	77.0					16																	20797543		1325	2309	3634	SO:0001627	intron_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20797543C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1224+63C>T	16.37:g.20797543C>T						ACSM3_ENST00000289416.5_Intron|ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000567387.1_Intron|ERI2_ENST00000300005.3_Intron	p.R429R	NM_202000.2	NP_973729.1	Q53FZ2	ACSM3_HUMAN			9	1424	+			0					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	c.1287C>T	CCDS10589.1																																																																																				0.363	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		7	9	0	0	0	1	0	7	9				
DCP1A	55802	broad.mit.edu	37	3	53338246	53338246	+	Silent	SNP	G	G	A	rs577560273		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:53338246G>A	ENST00000607628.1	-	6	694	c.585C>T	c.(583-585)acC>acT	p.T195T	DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000294241.6_Silent_p.T195T|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	195					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTAGAGTCTCGGTGCTTCCCA	0.418																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(583-585)acC>acT		decapping mRNA 1A							96.0	92.0	94.0					3																	53338246		1860	4105	5965	SO:0001819	synonymous_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53338246G>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.585C>T	3.37:g.53338246G>A						DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000294241.6_Silent_p.T195T|DCP1A_ENST00000480258.1_5'UTR	p.T195T	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	6	694	-			195					B4DHN9|U3KQM8	Silent	SNP	ENST00000607628.1	37	c.585C>T																																																																																					0.418	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		18	32	0	0	0	1	0	18	32				
GPX2	2877	broad.mit.edu	37	14	65406370	65406370	+	Missense_Mutation	SNP	G	G	A	rs565763403		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:65406370G>A	ENST00000389614.5	-	2	495	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	137					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	ATGAGCTTGGGATCGGTCATG	0.547																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(409-411)Ccc>Tcc		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						103.0	99.0	101.0					14																	65406370		1990	4171	6161	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406370G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.409C>T	14.37:g.65406370G>A	ENSP00000374265:p.Pro137Ser					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.P137S	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	495	-			137					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.409C>T	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711428	0.68730	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.21734	1.99;3.8	6.05	6.05	0.98169	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.64567	1.98	0.80722	D	1	P	0.42248	0.774	B	0.36134	0.218	T	0.02004	-1.1231	10	0.26408	T	0.33	-1.2987	19.3727	0.94495	0.0:0.0:1.0:0.0	.	137	P18283	GPX2_HUMAN	S	137;81	ENSP00000374265:P137S;ENSP00000451721:P81S	ENSP00000374265:P137S	P	-	1	0	GPX2	64476123	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CCC		0.547	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			23	32	0	0	0	1	0	23	32				
TRPM1	4308	broad.mit.edu	37	15	31352794	31352794	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31352794C>T	ENST00000256552.6	-	11	1363	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	TRPM1_ENST00000397795.2_Missense_Mutation_p.V384M|TRPM1_ENST00000542188.1_Missense_Mutation_p.V423M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTATGTCCACGCGGTTCCAA	0.483																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1267-1269)Gtg>Atg		transient receptor potential cation channel, subfamily M, member 1							63.0	68.0	67.0					15																	31352794		1994	4187	6181	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31352794C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1216G>A	15.37:g.31352794C>T	ENSP00000256552:p.Val406Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.V406M|TRPM1_ENST00000397795.2_Missense_Mutation_p.V384M	p.V423M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	10	1580	-		all_lung(180;1.92e-11)	384						Missense_Mutation	SNP	ENST00000256552.6	37	c.1267G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188035	0.78789	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63913	-0.07;-0.07;-0.07	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.81536	-0.0888	10	0.87932	D	0	-27.058	19.1166	0.93343	0.0:1.0:0.0:0.0	.	378;384	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	384;423;406;384	ENSP00000380897:V384M;ENSP00000437849:V423M;ENSP00000256552:V406M	ENSP00000256552:V406M	V	-	1	0	TRPM1	29140086	1.000000	0.71417	0.112000	0.21494	0.579000	0.36224	7.818000	0.86416	2.530000	0.85305	0.655000	0.94253	GTG		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		7	16	0	0	0	1	0	7	16				
KANSL1	284058	broad.mit.edu	37	17	44249479	44249479	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44249479C>T	ENST00000262419.6	-	2	501	c.31G>A	c.(31-33)Gca>Aca	p.A11T	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Missense_Mutation_p.A11T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A11T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A11T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.A11T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	11					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCAGCTGCTGCGTCAGTGAGA	0.602																																						ENST00000262419.6																			0											c.(31-33)Gca>Aca		KAT8 regulatory NSL complex subunit 1							50.0	60.0	57.0					17																	44249479		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44249479C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.31G>A	17.37:g.44249479C>T	ENSP00000262419:p.Ala11Thr					KANSL1_ENST00000574590.1_Missense_Mutation_p.A11T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A11T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.A11T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A11T	p.A11T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	501	-			11					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.31G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383859	0.61845	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20738	2.05;2.05	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.03157	-1.1066	10	0.87932	D	0	-10.7581	14.6403	0.68720	0.0:0.8547:0.1453:0.0	.	11;11	C9JHY2;Q7Z3B3	.;K1267_HUMAN	T	11	ENSP00000262419:A11T;ENSP00000387393:A11T	ENSP00000262419:A11T	A	-	1	0	KIAA1267	41605256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.500000	0.66943	2.840000	0.97914	0.655000	0.94253	GCA		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		21	47	0	0	0	1	0	21	47				
RHOD	29984	broad.mit.edu	37	11	66834253	66834253	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66834253G>A	ENST00000308831.2	+	3	350	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	RHOD_ENST00000533360.1_Missense_Mutation_p.A89T|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	89					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CTACCCTGACGCCAGCGTCCT	0.612																																						ENST00000308831.2																			0				lung(3)	3						c.(265-267)Gcc>Acc		ras homolog family member D							160.0	144.0	150.0					11																	66834253		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834253G>A	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.265G>A	11.37:g.66834253G>A	ENSP00000308576:p.Ala89Thr					RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.A89T	p.A89T	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	350	+			89						Missense_Mutation	SNP	ENST00000308831.2	37	c.265G>A	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	0.679	-0.798853	0.02841	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.72051	-0.62;-0.62	4.9	1.95	0.26073	Small GTP-binding protein domain (1);	0.140485	0.32836	N	0.005581	T	0.45115	0.1326	N	0.20328	0.56	0.23366	N	0.997828	B	0.26775	0.159	B	0.24006	0.05	T	0.34329	-0.9833	10	0.02654	T	1	-23.3618	7.3209	0.26528	0.283:0.0:0.717:0.0	.	89	O00212	RHOD_HUMAN	T	89	ENSP00000308576:A89T;ENSP00000431167:A89T	ENSP00000308576:A89T	A	+	1	0	RHOD	66590829	0.970000	0.33590	0.191000	0.23289	0.002000	0.02628	1.766000	0.38491	0.675000	0.31264	-0.793000	0.03317	GCC		0.612	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		38	61	0	0	0	1	0	38	61				
SYNE1	23345	broad.mit.edu	37	6	152637993	152637993	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152637993A>G	ENST00000367255.5	-	87	17302	c.16701T>C	c.(16699-16701)atT>atC	p.I5567I	SYNE1_ENST00000356820.4_Silent_p.I91I|SYNE1_ENST00000265368.4_Silent_p.I5567I|SYNE1_ENST00000448038.1_Silent_p.I5496I|SYNE1_ENST00000341594.5_Silent_p.I5179I|SYNE1_ENST00000423061.1_Silent_p.I5496I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5567					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGATGCAAAATATATTGTT	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(16699-16701)atT>atC		spectrin repeat containing, nuclear envelope 1							90.0	89.0	89.0					6																	152637993		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152637993A>G	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.16701T>C	6.37:g.152637993A>G		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Silent_p.I5496I|SYNE1_ENST00000356820.4_Silent_p.I91I|SYNE1_ENST00000341594.5_Silent_p.I5179I|SYNE1_ENST00000423061.1_Silent_p.I5496I|SYNE1_ENST00000265368.4_Silent_p.I5567I	p.I5567I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	87	17302	-		Ovarian(120;0.0955)	5567					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.16701T>C	CCDS5236.2																																																																																				0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	23	0	0	0	1	0	18	23				
GLIPR2	152007	broad.mit.edu	37	9	36162402	36162402	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:36162402C>T	ENST00000377960.4	+	5	382	c.348C>T	c.(346-348)ggC>ggT	p.G116G	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.G90G	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	116	SCP.			TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). {ECO:0000305}.	positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AGAAGATGGGCGTGGGGAAGG	0.562																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(346-348)ggC>ggT		GLI pathogenesis-related 2							184.0	155.0	165.0					9																	36162402		2203	4300	6503	SO:0001819	synonymous_variant	152007					extracellular region|Golgi membrane		g.chr9:36162402C>T	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.348C>T	9.37:g.36162402C>T						GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.G90G	p.G116G	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			5	382	+			116	TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).				Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Silent	SNP	ENST00000377960.4	37	c.348C>T	CCDS6598.1																																																																																				0.562	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		14	37	0	0	0	1	0	14	37				
ZC3H4	23211	broad.mit.edu	37	19	47585445	47585445	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:47585445C>T	ENST00000253048.5	-	10	1363	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	442							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGATATCGTGCATATAAGGGC	0.463																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1324-1326)atG>atA		zinc finger CCCH-type containing 4							160.0	149.0	153.0					19																	47585445		1981	4165	6146	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47585445C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1326G>A	19.37:g.47585445C>T	ENSP00000253048:p.Met442Ile					ZC3H4_ENST00000594019.1_Intron	p.M442I	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	10	1363	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	442					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1326G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229481	0.79688	.	.	ENSG00000130749	ENST00000253048	T	0.37235	1.21	5.87	5.87	0.94306	Zinc finger, CCCH-type (3);	0.163359	0.56097	D	0.000032	T	0.56630	0.1998	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.51340	-0.8718	10	0.49607	T	0.09	.	18.9794	0.92749	0.0:1.0:0.0:0.0	.	442	Q9UPT8	ZC3H4_HUMAN	I	442	ENSP00000253048:M442I	ENSP00000253048:M442I	M	-	3	0	ZC3H4	52277285	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.572000	0.82409	2.781000	0.95711	0.655000	0.94253	ATG		0.463	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			31	36	0	0	0	1	0	31	36				
EPHA1	2041	broad.mit.edu	37	7	143095461	143095461	+	Nonsense_Mutation	SNP	G	G	A	rs201944531		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:143095461G>A	ENST00000275815.3	-	7	1503	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	473	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCAGGGCTTCGGGGCCGGGAC	0.607																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1417-1419)Cga>Tga		EPH receptor A1							48.0	50.0	49.0					7																	143095461		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095461G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1417C>T	7.37:g.143095461G>A	ENSP00000275815:p.Arg473*						p.R473*	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			7	1503	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	473			Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.1417C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263753	0.95399	.	.	ENSG00000146904	ENST00000275815	.	.	.	4.98	4.98	0.66077	.	0.108387	0.41605	D	0.000846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1095	0.65113	0.0:0.0:1.0:0.0	.	.	.	.	X	473	.	ENSP00000275815:R473X	R	-	1	2	EPHA1	142805583	0.961000	0.32948	0.040000	0.18447	0.147000	0.21601	2.084000	0.41625	2.461000	0.83175	0.655000	0.94253	CGA		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			17	22	0	0	0	1	0	17	22				
BMP2	650	broad.mit.edu	37	20	6751119	6751119	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:6751119G>T	ENST00000378827.4	+	2	1565	c.346G>T	c.(346-348)Gaa>Taa	p.E116*		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	116					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CCACCATGAAGGTGAGGCATG	0.687																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.e2+1		bone morphogenetic protein 2	Simvastatin(DB00641)						15.0	17.0	17.0					20																	6751119		2177	4272	6449	SO:0001630	splice_region_variant	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6751119G>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.346+1G>T	20.37:g.6751119G>T							p.E116_splice	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1565	+			116						Splice_Site	SNP	ENST00000378827.4	37	c.346_splice	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	G	47	13.048342	0.99715	.	.	ENSG00000125845	ENST00000378827	.	.	.	5.47	4.53	0.55603	.	0.045866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9536	0.64133	0.0738:0.0:0.9262:0.0	.	.	.	.	X	116	.	ENSP00000368104:E116X	E	+	1	0	BMP2	6699119	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	9.759000	0.98931	1.292000	0.44672	-0.145000	0.13849	GAA		0.687	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3		Nonsense_Mutation	11	15	1	0	7.03913e-09	1	7.44699e-09	11	15				
ZNF497	162968	broad.mit.edu	37	19	58867511	58867511	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:58867511C>T	ENST00000311044.3	-	3	1679	c.1491G>A	c.(1489-1491)gcG>gcA	p.A497A	A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Silent_p.A497A|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGGTCAGGGCGCAGCGCGGC	0.697																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1489-1491)gcG>gcA		zinc finger protein 497							15.0	15.0	15.0					19																	58867511		2146	4211	6357	SO:0001819	synonymous_variant	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867511C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1491G>A	19.37:g.58867511C>T						CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.A497A	p.A497A	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1679	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	497					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	ENST00000311044.3	37	c.1491G>A	CCDS12977.1																																																																																				0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		7	11	0	0	0	1	0	7	11				
HERC2	8924	broad.mit.edu	37	15	28501363	28501363	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28501363G>A	ENST00000261609.7	-	18	2726	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGCACTGCTGGCCAGGGTCAC	0.662																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(2617-2619)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							18.0	19.0	18.0					15																	28501363		2182	4225	6407	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28501363G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2618C>T	15.37:g.28501363G>A	ENSP00000261609:p.Ala873Val						p.A873V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	18	2726	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	873						Missense_Mutation	SNP	ENST00000261609.7	37	c.2618C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687395	0.88639	.	.	ENSG00000128731	ENST00000261609	T	0.46063	0.88	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.79475	2.455	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.67875	-0.5557	10	0.51188	T	0.08	.	19.0185	0.92903	0.0:0.0:1.0:0.0	.	873	O95714	HERC2_HUMAN	V	873	ENSP00000261609:A873V	ENSP00000261609:A873V	A	-	2	0	HERC2	26174958	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	9.806000	0.99153	2.500000	0.84329	0.539000	0.68188	GCC		0.662	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	8	0	0	0	1	0	6	8				
DOCK4	9732	broad.mit.edu	37	7	111617288	111617288	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:111617288G>A	ENST00000437633.1	-	8	856	c.600C>T	c.(598-600)caC>caT	p.H200H	DOCK4_ENST00000428084.1_Silent_p.H200H|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	200					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGAGGTGGTGACTGCTGG	0.502																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(598-600)caC>caT		dedicator of cytokinesis 4							78.0	79.0	79.0					7																	111617288		1984	4164	6148	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617288G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.600C>T	7.37:g.111617288G>A						DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.H200H	p.H200H			Q8N1I0	DOCK4_HUMAN			8	872	-		Acute lymphoblastic leukemia(1;0.0441)	200					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.600C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079398	0.20227	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.43	3.36	0.38483	.	.	.	.	.	T	0.58133	0.2101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51841	-0.8654	4	.	.	.	.	8.3394	0.32235	0.2777:0.0:0.7223:0.0	.	.	.	.	I	188	.	.	T	-	2	0	DOCK4	111404524	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.724000	0.38064	0.578000	0.29487	0.563000	0.77884	ACC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	9	0	0	0	1	0	7	9				
FPGT	8790	broad.mit.edu	37	1	74670868	74670868	+	Silent	SNP	C	C	T	rs41289176		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:74670868C>T	ENST00000609362.1	+	4	1174	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Silent_p.L392L|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	379					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTCAGAGCTCGGCTTACAGT	0.338																																						ENST00000370898.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1135-1137)ctC>ctT		fucose-1-phosphate guanylyltransferase							57.0	59.0	58.0					1																	74670868		2203	4300	6503	SO:0001819	synonymous_variant	8790							g.chr1:74670868C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1137C>T	1.37:g.74670868C>T						FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron	p.L379L	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2					4	1174	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.1137C>T	CCDS663.1																																																																																				0.338	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	40	0	0	0	1	0	27	40				
DNAH11	8701	broad.mit.edu	37	7	21628905	21628905	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:21628905C>T	ENST00000409508.3	+	12	2084	c.2053C>T	c.(2053-2055)Cgt>Tgt	p.R685C	DNAH11_ENST00000328843.6_Missense_Mutation_p.R685C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	685	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTGAAAGTCGTATCTATAA	0.333									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2053-2055)Cgt>Tgt		dynein, axonemal, heavy chain 11							115.0	110.0	111.0					7																	21628905		1825	4078	5903	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21628905C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2053C>T	7.37:g.21628905C>T	ENSP00000475939:p.Arg685Cys					DNAH11_ENST00000409508.3_Missense_Mutation_p.R685C	p.R685C			Q96DT5	DYH11_HUMAN			12	2084	+			685			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2053C>T		.	.	.	.	.	.	.	.	.	.	C	6.871	0.530105	0.13127	.	.	ENSG00000105877	ENST00000328843	T	0.57273	0.41	5.58	2.28	0.28536	Dynein heavy chain, domain-1 (1);	5.163710	0.00873	U	0.002048	T	0.44095	0.1277	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	9	0.59425	D	0.04	.	6.8795	0.24164	0.0:0.6258:0.1396:0.2346	.	685	Q96DT5	DYH11_HUMAN	C	685	ENSP00000330671:R685C	ENSP00000330671:R685C	R	+	1	0	DNAH11	21595430	0.000000	0.05858	0.275000	0.24674	0.215000	0.24574	-0.818000	0.04467	0.689000	0.31550	0.650000	0.86243	CGT		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		23	25	0	0	0	1	0	23	25				
SYNE1	23345	broad.mit.edu	37	6	152730298	152730298	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:152730298C>T	ENST00000367255.5	-	44	7046	c.6445G>A	c.(6445-6447)Gga>Aga	p.G2149R	RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2149					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTGTTTTCCTTTGCTGGTA	0.358										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(6445-6447)Gga>Aga		spectrin repeat containing, nuclear envelope 1							148.0	143.0	145.0					6																	152730298		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.chr6:152730298C>T	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.6445G>A	6.37:g.152730298C>T	ENSP00000356224:p.Gly2149Arg	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2186R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2156R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2149R	p.G2149R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	44	7046	-		Ovarian(120;0.0955)	2149					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.6445G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481682	0.44147	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.57	5.57	0.84162	.	0.106321	0.41605	D	0.000856	T	0.52789	0.1756	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.994	P;P;P;D	0.64506	0.893;0.885;0.885;0.926	T	0.42932	-0.9422	10	0.37606	T	0.19	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2132;2149;2149;2156	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2149;2156;2149;2156;2186	ENSP00000356224:G2149R;ENSP00000396024:G2156R;ENSP00000265368:G2149R;ENSP00000390975:G2156R;ENSP00000341887:G2186R	ENSP00000265368:G2149R	G	-	1	0	SYNE1	152771991	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	6.066000	0.71185	2.630000	0.89119	0.655000	0.94253	GGA		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	34	0	0	0	1	0	21	34				
TMEM260	54916	broad.mit.edu	37	14	57103318	57103318	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:57103318T>C	ENST00000261556.6	+	15	1991		c.e15+2		RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Splice_Site|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											GCATATGACGTATGTTACACT	0.373																																						ENST00000261556.6																			0											c.e15+2		transmembrane protein 260							80.0	74.0	76.0					14																	57103318		2203	4300	6503	SO:0001630	splice_region_variant	54916							g.chr14:57103318T>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1869+2T>C	14.37:g.57103318T>C						RP11-1085N6.2_ENST00000553800.1_RNA|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Splice_Site		NM_017799.3	NP_060269.3					15	1991	+								A8KAN4|B3KPF5|Q86XE1	Splice_Site	SNP	ENST00000261556.6	37		CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359740	0.61403	.	.	ENSG00000070269	ENST00000261556;ENST00000536419;ENST00000555046	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7079	0.69206	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf101	56173071	1.000000	0.71417	0.474000	0.27266	0.967000	0.64934	5.219000	0.65262	2.070000	0.61991	0.460000	0.39030	.		0.373	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	Intron	16	22	0	0	0	1	0	16	22				
KIF5B	3799	broad.mit.edu	37	10	32329372	32329372	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:32329372T>C	ENST00000302418.4	-	3	685	c.228A>G	c.(226-228)ggA>ggG	p.G76G		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTCCATTATATCCTTCAAGTA	0.343			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(226-228)ggA>ggG		kinesin family member 5B							175.0	160.0	165.0					10																	32329372		2202	4296	6498	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32329372T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.228A>G	10.37:g.32329372T>C							p.G76G	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			3	685	-		Prostate(175;0.0137)	76			Kinesin-motor.		A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.228A>G	CCDS7171.1																																																																																				0.343	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		3	24	0	0	0	1	0	3	24				
SLC6A9	6536	broad.mit.edu	37	1	44466582	44466582	+	Intron	SNP	C	C	T	rs7528392	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44466582C>T	ENST00000360584.2	-	12	1846				SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R494H|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACAGAGTGGGCGGGCCAAGGG	0.617													C|||	31	0.0061901	0.0182	0.0101	5008	,	,		16734	0.0		0.0	False		,,,				2504	0.0					ENST00000372306.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1480-1482)cGc>cAc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)	C	,,	73,4333	67.6+/-105.2	2,69,2132	51.0	58.0	56.0		,,	2.7	0.0	1	dbSNP_116	56	0,8600		0,0,4300	no	intron,intron,intron	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	2,69,6432	TT,TC,CC		0.0,1.6568,0.5613	,,	,,	44466582	73,12933	2203	4300	6503	SO:0001627	intron_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44466582C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1655-43G>A	1.37:g.44466582C>T						SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron	p.R494H			P48067	SC6A9_HUMAN			11	1620	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	652					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.1481G>A	CCDS41317.1	14	0.00641025641025641	8	0.016260162601626018	6	0.016574585635359115	0	0.0	0	0.0	C	10.72	1.429699	0.25726	0.016568	0.0	ENSG00000196517	ENST00000372306	T	0.77098	-1.07	4.67	2.7	0.31948	.	.	.	.	.	T	0.44307	0.1287	.	.	.	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	7	.	.	.	.	6.0426	0.19742	0.1835:0.7157:0.0:0.1007	rs7528392	494	B7Z8W5	.	H	494	ENSP00000361380:R494H	.	R	-	2	0	SLC6A9	44239169	0.000000	0.05858	0.006000	0.13384	0.633000	0.38033	-1.992000	0.01476	0.950000	0.37743	0.655000	0.94253	CGC		0.617	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		16	14	0	0	0	1	0	16	14				
C9orf117	286207	broad.mit.edu	37	9	130471805	130471805	+	Missense_Mutation	SNP	G	G	A	rs567018611		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130471805G>A	ENST00000373295.2	+	2	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	89										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TTCCTCAAGCGCACGCTCAAC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		25025	0.001		0.0	False		,,,				2504	0.0					ENST00000373295.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(265-267)cGc>cAc		chromosome 9 open reading frame 117							62.0	65.0	64.0					9																	130471805		2115	4251	6366	SO:0001583	missense	286207							g.chr9:130471805G>A	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.266G>A	9.37:g.130471805G>A	ENSP00000362392:p.Arg89His						p.R89H	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN			2	306	+			89					A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	c.266G>A	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059287	0.55325	.	.	ENSG00000160401	ENST00000373295	T	0.42513	0.97	5.12	4.22	0.49857	.	0.275892	0.41194	N	0.000938	T	0.35364	0.0929	M	0.70275	2.135	0.80722	D	1	P	0.40180	0.705	B	0.24701	0.055	T	0.27502	-1.0072	10	0.41790	T	0.15	-14.4241	11.1821	0.48633	0.0901:0.0:0.9098:0.0	.	89	Q5JU67	CI117_HUMAN	H	89	ENSP00000362392:R89H	ENSP00000362392:R89H	R	+	2	0	C9orf117	129511626	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.685000	0.54678	1.152000	0.42452	0.511000	0.50034	CGC		0.557	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		7	19	0	0	0	1	0	7	19				
POLR3B	55703	broad.mit.edu	37	12	106770185	106770185	+	Silent	SNP	G	G	A	rs376395471		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:106770185G>A	ENST00000228347.4	+	7	675	c.453G>A	c.(451-453)acG>acA	p.T151T	POLR3B_ENST00000539066.1_Silent_p.T93T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	151					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGAAAAACGCCAGCAGAAT	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18954	0.0		0.0	False		,,,				2504	0.0					ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(451-453)acG>acA		polymerase (RNA) III (DNA directed) polypeptide B		G	,	0,4406		0,0,2203	146.0	129.0	135.0		279,453	-10.9	0.8	12		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	POLR3B	NM_001160708.1,NM_018082.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	93/1076,151/1134	106770185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106770185G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.453G>A	12.37:g.106770185G>A						POLR3B_ENST00000539066.1_Silent_p.T93T	p.T151T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			7	675	+			151					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.453G>A	CCDS9105.1																																																																																				0.373	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		22	36	0	0	0	1	0	22	36				
HSDL2	84263	broad.mit.edu	37	9	115166427	115166427	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115166427C>A	ENST00000398805.3	+	2	397	c.170C>A	c.(169-171)gCt>gAt	p.A57D	HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Intron|HSDL2_ENST00000488101.1_Intron|HSDL2_ENST00000398803.1_Missense_Mutation_p.A57D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	57						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATCTATACTGCTGCTGAAGAA	0.388																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(169-171)gCt>gAt		hydroxysteroid dehydrogenase like 2							83.0	74.0	77.0					9																	115166427		1933	4138	6071	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115166427C>A	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.170C>A	9.37:g.115166427C>A	ENSP00000381785:p.Ala57Asp					HSDL2_ENST00000398803.1_Missense_Mutation_p.A57D|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_Intron|HSDL2_ENST00000488101.1_Intron	p.A57D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			2	397	+			57					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.170C>A	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340217	0.95783	.	.	ENSG00000119471	ENST00000398805;ENST00000398803	D;D	0.90732	-2.72;-2.72	6.07	6.07	0.98685	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.97127	0.9815	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	57;57	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	D	57	ENSP00000381785:A57D;ENSP00000381783:A57D	ENSP00000381783:A57D	A	+	2	0	HSDL2	114206248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.689000	0.84165	2.885000	0.99019	0.655000	0.94253	GCT		0.388	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	38	1	0	1.56452e-12	1	1.69366e-12	20	38				
ASRGL1	80150	broad.mit.edu	37	11	62156674	62156674	+	Silent	SNP	C	C	T	rs150568119	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62156674C>T	ENST00000415229.2	+	5	776	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000535727.1_Silent_p.G59G|ASRGL1_ENST00000301776.5_Silent_p.G187G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	187					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCTCCACAGGCGGTATCGTTA	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(559-561)ggC>ggT		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	C	,	1,4403		0,1,2201	125.0	117.0	120.0		561,561	-1.4	0.1	11	dbSNP_134	120	6,8592		0,6,4293	no	coding-synonymous,coding-synonymous	ASRGL1	NM_001083926.1,NM_025080.3	,	0,7,6494	TT,TC,CC		0.0698,0.0227,0.0538	,	187/309,187/309	62156674	7,12995	2202	4299	6501	SO:0001819	synonymous_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62156674C>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.561C>T	11.37:g.62156674C>T						ASRGL1_ENST00000301776.5_Silent_p.G187G|ASRGL1_ENST00000535727.1_Silent_p.G59G	p.G187G	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			5	776	+			187					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	37	c.561C>T	CCDS8019.1																																																																																				0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		53	58	0	0	0	1	0	53	58				
GPR20	2843	broad.mit.edu	37	8	142367678	142367678	+	Missense_Mutation	SNP	C	C	T	rs200601490		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:142367678C>T	ENST00000377741.3	-	2	436	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGCCCCTGGCGCCGTAGTAC	0.617																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(346-348)Gcc>Acc		G protein-coupled receptor 20		C	THR/ALA	0,4406		0,0,2203	87.0	90.0	89.0		346	-2.0	0.0	8		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPR20	NM_005293.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	116/359	142367678	2,13004	2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367678C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.346G>A	8.37:g.142367678C>T	ENSP00000366970:p.Ala116Thr						p.A116T	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	436	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		116					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.346G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557305	0.03967	0.0	2.33E-4	ENSG00000204882	ENST00000377741	T	0.37058	1.22	4.62	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.396203	0.24985	N	0.034040	T	0.19725	0.0474	N	0.20766	0.605	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.22836	-1.0205	10	0.19147	T	0.46	-5.8539	12.6898	0.56968	0.0:0.7369:0.0:0.2631	.	116	Q99678	GPR20_HUMAN	T	116	ENSP00000366970:A116T	ENSP00000366970:A116T	A	-	1	0	GPR20	142436860	0.071000	0.21146	0.000000	0.03702	0.003000	0.03518	0.207000	0.17395	-0.279000	0.09167	-0.291000	0.09656	GCC		0.617	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		21	20	0	0	0	1	0	21	20				
PCDHGC4	56098	broad.mit.edu	37	5	140866578	140866578	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140866578C>T	ENST00000306593.1	+	1	1838	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGAGGCCCCAGATCCC	0.557																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1837-1839)gCc>gTc									66.0	58.0	61.0					5																	140866578		2203	4300	6503	SO:0001583	missense	0							g.chr5:140866578C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1838C>T	5.37:g.140866578C>T	ENSP00000306918:p.Ala613Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.A613V	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1838	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1838C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652912	0.67472	.	.	ENSG00000242419	ENST00000306593	T	0.51817	0.69	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69788	0.3150	M	0.73217	2.22	0.32980	D	0.52353	B;D	0.67145	0.335;0.996	B;D	0.72338	0.19;0.977	T	0.76520	-0.2929	9	0.87932	D	0	.	19.3791	0.94525	0.0:1.0:0.0:0.0	.	613;613	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	V	613	ENSP00000306918:A613V	ENSP00000306918:A613V	A	+	2	0	PCDHGC4	140846762	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.682000	0.54656	2.665000	0.90641	0.591000	0.81541	GCC		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		16	15	0	0	0	1	0	16	15				
MDH2	4191	broad.mit.edu	37	7	75686750	75686750	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:75686750G>A	ENST00000315758.5	+	3	352	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MDH2_ENST00000432020.2_Silent_p.L86L|MDH2_ENST00000443006.1_5'UTR|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	86					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CTGAACAGCTGCCTGACTGCC	0.522																																						ENST00000315758.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						c.(256-258)ctG>ctA		malate dehydrogenase 2, NAD (mitochondrial)	NADH(DB00157)						129.0	113.0	119.0					7																	75686750		2203	4300	6503	SO:0001819	synonymous_variant	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75686750G>A		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.258G>A	7.37:g.75686750G>A						MDH2_ENST00000432020.2_Silent_p.L86L|MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_5'UTR	p.L86L	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN			3	352	+			86					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	37	c.258G>A	CCDS5581.1																																																																																				0.522	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			18	39	0	0	0	1	0	18	39				
PRTG	283659	broad.mit.edu	37	15	55930826	55930826	+	Silent	SNP	G	G	A	rs200941187		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55930826G>A	ENST00000389286.4	-	14	2420	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGGCAAATTCGTATTTGGTGT	0.393													A|||	1	0.000199681	0.0008	0.0	5008	,	,		14931	0.0		0.0	False		,,,				2504	0.0					ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2371-2373)taC>taT		protogenin		A		1,3717		0,1,1858	67.0	66.0	66.0		2373	-5.0	0.7	15		66	0,8216		0,0,4108	no	coding-synonymous	PRTG	NM_173814.4		0,1,5966	AA,AG,GG		0.0,0.0269,0.0084		791/1151	55930826	1,11933	1859	4108	5967	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55930826G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2373C>T	15.37:g.55930826G>A							p.Y791Y	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	14	2420	-			791			Fibronectin type-III 4.			Silent	SNP	ENST00000389286.4	37	c.2373C>T	CCDS42040.1																																																																																				0.393	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		15	33	0	0	0	1	0	15	33				
DHX36	170506	broad.mit.edu	37	3	154002379	154002379	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:154002379G>A	ENST00000496811.1	-	19	2365	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V	DHX36_ENST00000329463.5_Missense_Mutation_p.A748V|DHX36_ENST00000544526.1_Missense_Mutation_p.A748V|DHX36_ENST00000308361.6_Intron	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	762					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCTCAAACGCATTCACAAC	0.299																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2284-2286)gCg>gTg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							119.0	112.0	114.0					3																	154002379		2203	4299	6502	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002379G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2285C>T	3.37:g.154002379G>A	ENSP00000417078:p.Ala762Val					DHX36_ENST00000544526.1_Missense_Mutation_p.A748V|DHX36_ENST00000308361.6_Intron|DHX36_ENST00000329463.5_Missense_Mutation_p.A748V	p.A762V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		19	2365	-			762					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2285C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209047	0.95069	.	.	ENSG00000174953	ENST00000496811;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.75447	2.3	0.80722	D	1	D;D	0.57571	0.973;0.98	P;P	0.51701	0.677;0.578	T	0.00912	-1.1517	10	0.48119	T	0.1	.	19.3588	0.94425	0.0:0.0:1.0:0.0	.	748;762	Q9H2U1-2;Q9H2U1	.;DHX36_HUMAN	V	762;748;748;676	ENSP00000417078:A762V;ENSP00000444247:A748V;ENSP00000330113:A748V;ENSP00000419862:A676V	ENSP00000330113:A748V	A	-	2	0	DHX36	155485073	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.550000	0.98110	2.587000	0.87381	0.655000	0.94253	GCG		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		12	19	0	0	0	1	0	12	19				
PPARGC1B	133522	broad.mit.edu	37	5	149216065	149216065	+	Missense_Mutation	SNP	C	C	T	rs201395294		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:149216065C>T	ENST00000309241.5	+	8	2079	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGCCAGAAGCGTCCCTTCTC	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2047-2049)Cgt>Tgt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							49.0	54.0	52.0					5																	149216065		2202	4298	6500	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216065C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2047C>T	5.37:g.149216065C>T	ENSP00000312649:p.Arg683Cys					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683C	p.R683C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2079	+			683					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2047C>T	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.145667|3.145667	0.57044|0.57044	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000434684|ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.|T;T;T;T	.|0.21543	.|2.01;2.0;2.03;2.0	4.47|4.47	3.52|3.52	0.40303|0.40303	.|.	.|0.193702	.|0.33161	.|N	.|0.005210	T|T	0.44808|0.44808	0.1311|0.1311	M|M	0.80332|0.80332	2.49|2.49	0.47905|0.47905	D|D	0.999546|0.999546	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.69479	.|0.961;0.917;0.961;0.915;0.964	T|T	0.49844|0.49844	-0.8896|-0.8896	5|10	.|0.87932	.|D	.|0	-17.9009|-17.9009	11.6325|11.6325	0.51185|0.51185	0.3102:0.6898:0.0:0.0|0.3102:0.6898:0.0:0.0	.|.	.|662;662;644;683;683	.|Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.|.;.;.;PRGC2_HUMAN;.	V|C	369|644;683;683;619	.|ENSP00000353638:R644C;ENSP00000377855:R683C;ENSP00000312649:R683C;ENSP00000384403:R619C	.|ENSP00000312649:R683C	A|R	+|+	2|1	0|0	PPARGC1B|PPARGC1B	149196258|149196258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	1.257000|1.257000	0.32932|0.32932	2.212000|2.212000	0.71576|0.71576	0.456000|0.456000	0.33151|0.33151	GCG|CGT		0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		16	24	0	0	0	1	0	16	24				
HEPACAM2	253012	broad.mit.edu	37	7	92818563	92818563	+	3'UTR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:92818563G>A	ENST00000394468.2	-	0	1483				HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.Q449*|HEPACAM2_ENST00000341723.4_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CGAATGTACTGTTTAGCCCAT	0.318																																						ENST00000440868.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1345-1347)Cag>Tag		HEPACAM family member 2							74.0	78.0	77.0					7																	92818563		2203	4299	6502	SO:0001624	3_prime_UTR_variant	253012					integral to membrane		g.chr7:92818563G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.*17C>T	7.37:g.92818563G>A						HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000341723.4_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR	p.Q449*			A8MVW5	HECA2_HUMAN			8	1395	-			0					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	c.1345C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077006	0.36662	.	.	ENSG00000188175	ENST00000440868	.	.	.	4.2	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.868	0.09024	0.2278:0.202:0.5701:0.0	.	.	.	.	X	449	.	ENSP00000389592:Q449X	Q	-	1	0	HEPACAM2	92656499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.116000	0.10724	0.283000	0.22279	0.591000	0.81541	CAG		0.318	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		19	28	0	0	0	1	0	19	28				
LRP2	4036	broad.mit.edu	37	2	170025112	170025112	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170025112A>G	ENST00000263816.3	-	61	11857	c.11572T>C	c.(11572-11574)Tat>Cat	p.Y3858H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3858	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATTTCCAATATGGCGGGATA	0.473																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11572-11574)Tat>Cat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						121.0	107.0	112.0					2																	170025112		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170025112A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11572T>C	2.37:g.170025112A>G	ENSP00000263816:p.Tyr3858His						p.Y3858H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	61	11857	-			3858			LDL-receptor class A 34.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11572T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	2.775	-0.254772	0.05829	.	.	ENSG00000081479	ENST00000263816	D	0.95307	-3.67	5.82	-7.63	0.01290	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.787182	0.12508	N	0.462735	T	0.73953	0.3653	N	0.01505	-0.83	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.73167	-0.4068	10	0.15499	T	0.54	.	0.5908	0.00728	0.3895:0.195:0.2267:0.1888	.	3858	P98164	LRP2_HUMAN	H	3858	ENSP00000263816:Y3858H	ENSP00000263816:Y3858H	Y	-	1	0	LRP2	169733358	0.066000	0.20996	0.000000	0.03702	0.043000	0.13939	0.871000	0.28023	-1.307000	0.02321	-0.496000	0.04628	TAT		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		25	14	0	0	0	1	0	25	14				
MKX	283078	broad.mit.edu	37	10	28023550	28023550	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:28023550G>A	ENST00000375790.5	-	5	1105	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	MKX_ENST00000419761.1_Missense_Mutation_p.R225C			Q8IYA7	MKX_HUMAN	mohawk homeobox	225					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTAAGGTAACGGTTCAACAAG	0.483																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(673-675)Cgt>Tgt		mohawk homeobox							184.0	174.0	178.0					10																	28023550		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023550G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.673C>T	10.37:g.28023550G>A	ENSP00000364946:p.Arg225Cys					MKX_ENST00000419761.1_Missense_Mutation_p.R225C	p.R225C			Q8IYA7	MKX_HUMAN			5	1105	-			225					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.673C>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949520	0.92660	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.73363	-0.74;-0.74	5.56	5.56	0.83823	.	0.049061	0.85682	D	0.000000	D	0.84831	0.5559	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	D	0.85799	0.1372	10	0.87932	D	0	-10.0549	19.5918	0.95518	0.0:0.0:1.0:0.0	.	225	Q8IYA7	MKX_HUMAN	C	225	ENSP00000364946:R225C;ENSP00000400896:R225C	ENSP00000364946:R225C	R	-	1	0	MKX	28063556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.804000	0.99143	2.626000	0.88956	0.558000	0.71614	CGT		0.483	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		26	48	0	0	0	1	0	26	48				
LIMD1	8994	broad.mit.edu	37	3	45636598	45636598	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:45636598G>A	ENST00000273317.4	+	1	248	c.227G>A	c.(226-228)gGc>gAc	p.G76D	LIMD1_ENST00000440097.1_Missense_Mutation_p.G76D|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	76	Mediates nuclear export.				cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GGGAGTAGAGGCCCTGTCAAT	0.637																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(226-228)gGc>gAc		LIM domains containing 1							20.0	24.0	22.0					3																	45636598		2203	4296	6499	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636598G>A	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.227G>A	3.37:g.45636598G>A	ENSP00000273317:p.Gly76Asp					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G76D	p.G76D	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	248	+			76			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.227G>A	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403629	0.25291	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.65549	-0.16;0.08	4.43	3.54	0.40534	.	1.010360	0.07953	N	0.981167	T	0.53867	0.1823	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.45310	0.476	T	0.33007	-0.9885	10	0.20046	T	0.44	.	11.4179	0.49962	0.0:0.1976:0.8024:0.0	.	76	Q9UGP4	LIMD1_HUMAN	D	76	ENSP00000394537:G76D;ENSP00000273317:G76D	ENSP00000273317:G76D	G	+	2	0	LIMD1	45611602	0.981000	0.34729	0.004000	0.12327	0.208000	0.24298	2.181000	0.42547	0.834000	0.34852	0.462000	0.41574	GGC		0.637	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	12	0	0	0	1	0	9	12				
ARHGEF17	9828	broad.mit.edu	37	11	73021272	73021272	+	Missense_Mutation	SNP	C	C	T	rs573060878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:73021272C>T	ENST00000263674.3	+	1	1939	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	530					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCACCTGGCACGCGCCCCACA	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15915	0.0		0.0	False		,,,				2504	0.0					ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1588-1590)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 17							52.0	51.0	52.0					11																	73021272		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021272C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1589C>T	11.37:g.73021272C>T	ENSP00000263674:p.Thr530Met						p.T530M	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1939	+			530					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1589C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980948	0.53827	.	.	ENSG00000110237	ENST00000263674	T	0.57907	0.37	4.62	2.75	0.32379	.	0.586313	0.17166	N	0.184460	T	0.28797	0.0714	N	0.24115	0.695	0.23762	N	0.996916	P	0.44309	0.832	B	0.32724	0.151	T	0.24941	-1.0146	10	0.87932	D	0	-5.8892	3.8962	0.09141	0.2833:0.5276:0.0:0.1891	.	530	Q96PE2	ARHGH_HUMAN	M	530	ENSP00000263674:T530M	ENSP00000263674:T530M	T	+	2	0	ARHGEF17	72698920	0.000000	0.05858	0.998000	0.56505	0.942000	0.58702	0.378000	0.20569	0.564000	0.29238	0.561000	0.74099	ACG		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		6	14	0	0	0	1	0	6	14				
DOT1L	84444	broad.mit.edu	37	19	2214517	2214517	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2214517G>A	ENST00000398665.3	+	19	1881	c.1845G>A	c.(1843-1845)tcG>tcA	p.S615S	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	615					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.S615S(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCTGTCGCTGGAGAAGC	0.647																																						ENST00000398665.3																			2	Substitution - coding silent(2)	p.S615S(2)	kidney(2)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1843-1845)tcG>tcA		DOT1-like histone H3K79 methyltransferase							35.0	40.0	38.0					19																	2214517		2125	4243	6368	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2214517G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1845G>A	19.37:g.2214517G>A						DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	p.S615S	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	1881	+		Hepatocellular(1079;0.137)	615					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1845G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357241	0.11239	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.69	-5.23	0.02798	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44128	-0.9348	4	.	.	.	-34.377	0.5912	0.00728	0.2848:0.1747:0.3038:0.2367	.	.	.	.	H	402	.	.	R	+	2	0	DOT1L	2165517	0.017000	0.18338	0.989000	0.46669	0.425000	0.31504	-0.905000	0.04075	-0.342000	0.08363	-1.103000	0.02113	CGC		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		11	9	0	0	0	1	0	11	9				
PBRM1	55193	broad.mit.edu	37	3	52713679	52713679	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52713679C>T	ENST00000296302.7	-	1	50	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PBRM1_ENST00000409057.1_Missense_Mutation_p.G17R|PBRM1_ENST00000356770.4_Missense_Mutation_p.G17R|PBRM1_ENST00000337303.4_Missense_Mutation_p.G17R|PBRM1_ENST00000409767.1_Missense_Mutation_p.G17R|PBRM1_ENST00000410007.1_Missense_Mutation_p.G17R|PBRM1_ENST00000394830.3_Missense_Mutation_p.G17R|PBRM1_ENST00000409114.3_Missense_Mutation_p.G17R			Q86U86	PB1_HUMAN	polybromo 1	17					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAAGTCCCCGCTGACACTG	0.448			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(49-51)Ggg>Agg		polybromo 1							105.0	96.0	99.0					3																	52713679		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52713679C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.49G>A	3.37:g.52713679C>T	ENSP00000296302:p.Gly17Arg					PBRM1_ENST00000409767.1_Missense_Mutation_p.G17R|PBRM1_ENST00000409057.1_Missense_Mutation_p.G17R|PBRM1_ENST00000394830.3_Missense_Mutation_p.G17R|PBRM1_ENST00000410007.1_Missense_Mutation_p.G17R|PBRM1_ENST00000409114.3_Missense_Mutation_p.G17R|PBRM1_ENST00000337303.4_Missense_Mutation_p.G17R|PBRM1_ENST00000296302.7_Missense_Mutation_p.G17R	p.G17R			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	1	51	-			17					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.321552	0.95682	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294;ENST00000424867	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	1.3;1.29;1.32;1.28;1.3;1.29;1.75;1.28;1.29;0.95;0.97;0.95;0.79	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.50333	1.59	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.974;1.0;1.0	T	0.52419	-0.8578	10	0.08179	T	0.78	.	19.7082	0.96082	0.0:1.0:0.0:0.0	.	17;17;17;17;17;17;17;17	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	R	17	ENSP00000349213:G17R;ENSP00000378307:G17R;ENSP00000296302:G17R;ENSP00000338302:G17R;ENSP00000386593:G17R;ENSP00000386529:G17R;ENSP00000386643:G17R;ENSP00000386601:G17R;ENSP00000387775:G17R;ENSP00000409939:G17R;ENSP00000389390:G17R;ENSP00000412401:G17R;ENSP00000416851:G17R	ENSP00000296302:G17R	G	-	1	0	PBRM1	52688719	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.453000	0.80700	2.651000	0.90000	0.585000	0.79938	GGG		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		8	35	0	0	0	1	0	8	35				
IL3RA	3563	broad.mit.edu	37	X	1497614	1497614	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:1497614G>A	ENST00000331035.4	+	10	1286	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	IL3RA_ENST00000381469.2_Missense_Mutation_p.G235R	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	313					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GATCGCGCTGGGGACGCTGCT	0.642																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(937-939)Ggg>Agg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						127.0	104.0	112.0					X																	1497614		2202	4295	6497	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497614G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.937G>A	X.37:g.1497614G>A	ENSP00000327890:p.Gly313Arg					IL3RA_ENST00000381469.2_Missense_Mutation_p.G235R	p.G313R	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			10	1286	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	313					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.937G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.079246	0.36662	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95918	1.27;-3.85	0.798	0.798	0.18660	.	1.848380	0.04527	U	0.385699	D	0.95595	0.8568	L	0.39898	1.24	0.09310	N	1	D;D	0.65815	0.995;0.995	D;P	0.66351	0.943;0.767	D	0.88453	0.3050	9	0.25106	T	0.35	.	.	.	.	.	234;313	P26951-2;P26951	.;IL3RA_HUMAN	R	313;235	ENSP00000327890:G313R;ENSP00000370878:G235R	ENSP00000327890:G313R	G	+	1	0	IL3RA	1457614	0.032000	0.19561	0.067000	0.19924	0.247000	0.25773	1.084000	0.30828	0.710000	0.31997	0.402000	0.26972	GGG		0.642	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			10	15	0	0	0	1	0	10	15				
DR1	1810	broad.mit.edu	37	1	93812296	93812296	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:93812296G>A	ENST00000370272.4	+	1	852	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	RP4-717I23.3_ENST00000451302.2_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.A32T|RP4-717I23.3_ENST00000413606.1_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	32					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TGTCCGGGTGGCCAACGATGC	0.448																																						ENST00000370272.3																			0				endometrium(3)|large_intestine(1)	4						c.(94-96)Gcc>Acc		down-regulator of transcription 1, TBP-binding (negative cofactor 2)							100.0	94.0	96.0					1																	93812296		2203	4300	6503	SO:0001583	missense	1810				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812296G>A	M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.94G>A	1.37:g.93812296G>A	ENSP00000359295:p.Ala32Thr					DR1_ENST00000370267.1_Missense_Mutation_p.A32T	p.A32T	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	852	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)	32						Missense_Mutation	SNP	ENST00000370272.4	37	c.94G>A	CCDS744.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767899	0.90020	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.50277	0.75;0.75	5.76	5.76	0.90799	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.41710	1.295	0.80722	D	1	P	0.40398	0.716	B	0.42625	0.393	T	0.28744	-1.0034	10	0.54805	T	0.06	-7.301	19.9759	0.97304	0.0:0.0:1.0:0.0	.	32	Q01658	NC2B_HUMAN	T	32	ENSP00000359295:A32T;ENSP00000359290:A32T	ENSP00000359290:A32T	A	+	1	0	DR1	93584884	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.564000	0.98151	2.713000	0.92767	0.655000	0.94253	GCC		0.448	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938		43	58	0	0	0	1	0	43	58				
IGF2BP1	10642	broad.mit.edu	37	17	47115612	47115612	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:47115612G>A	ENST00000290341.3	+	6	818	c.484G>A	c.(484-486)Gga>Aga	p.G162R	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	162					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATAGCACAGGGACCTGAGAA	0.632																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(484-486)Gga>Aga		insulin-like growth factor 2 mRNA binding protein 1							57.0	63.0	61.0					17																	47115612		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115612G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.484G>A	17.37:g.47115612G>A	ENSP00000290341:p.Gly162Arg					IGF2BP1_ENST00000431824.2_Intron	p.G162R	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	818	+			162					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.484G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031091	0.35797	.	.	ENSG00000159217	ENST00000290341	T	0.19806	2.12	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.41236	1.265	0.80722	D	1	B	0.19935	0.04	B	0.20955	0.032	T	0.05022	-1.0911	10	0.08179	T	0.78	-13.202	12.4638	0.55747	0.0773:0.0:0.9227:0.0	.	162	Q9NZI8	IF2B1_HUMAN	R	162	ENSP00000290341:G162R	ENSP00000290341:G162R	G	+	1	0	IGF2BP1	44470611	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.857000	0.62939	2.585000	0.87301	0.655000	0.94253	GGA		0.632	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		8	50	0	0	0	1	0	8	50				
CLEC4C	170482	broad.mit.edu	37	12	7894041	7894041	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7894041C>T	ENST00000542353.1	-	4	701	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	CLEC4C_ENST00000360345.3_Missense_Mutation_p.V71I|CLEC4C_ENST00000354629.5_Missense_Mutation_p.V40I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.V40I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	71					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V71I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CCTTCCATGACGCAGGTCAGG	0.418																																						ENST00000542353.1																			2	Substitution - Missense(2)	p.V71I(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(211-213)Gtc>Atc		C-type lectin domain family 4, member C							193.0	164.0	174.0					12																	7894041		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7894041C>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.211G>A	12.37:g.7894041C>T	ENSP00000440428:p.Val71Ile					CLEC4C_ENST00000354629.5_Missense_Mutation_p.V40I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.V71I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.V40I	p.V71I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	4	701	-			71					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.211G>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	2.509	-0.313476	0.05422	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	1.79	-3.59	0.04583	.	.	.	.	.	T	0.04092	0.0114	N	0.04335	-0.225	0.09310	N	1	P;B	0.45126	0.851;0.342	B;B	0.30179	0.112;0.026	T	0.36696	-0.9737	9	0.22109	T	0.4	.	4.0105	0.09621	0.5588:0.2914:0.0:0.1498	.	40;71	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	I	71;40;40;71	ENSP00000440428:V71I;ENSP00000346648:V40I;ENSP00000445338:V40I;ENSP00000353500:V71I	ENSP00000346648:V40I	V	-	1	0	CLEC4C	7785308	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.993000	0.03720	-1.359000	0.02174	0.514000	0.50259	GTC		0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		22	48	0	0	0	1	0	22	48				
C17orf97	400566	broad.mit.edu	37	17	263856	263856	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:263856C>T	ENST00000360127.6	+	2	1238	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	438										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TGAAGGAAACCTTACCCCAAA	0.507																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1222-1224)Ctt>Ttt		chromosome 17 open reading frame 97							138.0	156.0	150.0					17																	263856		2203	4300	6503	SO:0001583	missense	400566							g.chr17:263856C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1222C>T	17.37:g.263856C>T	ENSP00000353245:p.Leu408Phe					C17orf97_ENST00000571106.1_Intron	p.L408F	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1238	+			438					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.1222C>T	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280179	0.40294	.	.	ENSG00000187624	ENST00000360127	T	0.52754	0.65	3.86	-0.558	0.11796	.	0.636587	0.12017	N	0.507393	T	0.26484	0.0647	N	0.14661	0.345	0.18873	N	0.999986	P	0.39157	0.662	B	0.38655	0.278	T	0.13176	-1.0519	10	0.37606	T	0.19	-9.1422	5.9886	0.19448	0.0:0.3341:0.4788:0.187	.	408	Q6ZQX7-4	.	F	408	ENSP00000353245:L408F	ENSP00000353245:L408F	L	+	1	0	C17orf97	264202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.584000	0.05800	-0.033000	0.13736	-0.831000	0.03077	CTT		0.507	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		25	56	0	0	0	1	0	25	56				
KIT	3815	broad.mit.edu	37	4	55604673	55604673	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55604673G>A	ENST00000288135.5	+	21	2978	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	961					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G961S(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTCTGTCGGCAGCACCGC	0.527		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		1	Substitution - Missense(1)	p.G961S(1)	ovary(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2881-2883)Ggc>Agc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						127.0	123.0	124.0					4																	55604673		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55604673G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2881G>A	4.37:g.55604673G>A	ENSP00000288135:p.Gly961Ser						p.G961S	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	21	2978	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		961					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2881G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834834	0.71373	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76578	-1.03;-1.03	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000009	D	0.87237	0.6127	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.944;1.0	D	0.85232	0.1033	10	0.34782	T	0.22	.	17.6745	0.88226	0.0:0.0:1.0:0.0	.	957;961	P10721-2;P10721	.;KIT_HUMAN	S	961;957	ENSP00000288135:G961S;ENSP00000390987:G957S	ENSP00000288135:G961S	G	+	1	0	KIT	55299430	1.000000	0.71417	0.964000	0.40570	0.261000	0.26267	5.963000	0.70372	2.706000	0.92434	0.561000	0.74099	GGC		0.527	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			50	71	0	0	0	1	0	50	71				
BNC2	54796	broad.mit.edu	37	9	16436967	16436967	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:16436967C>T	ENST00000380672.4	-	6	1282	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	BNC2_ENST00000545497.1_Missense_Mutation_p.A314T|BNC2_ENST00000380667.2_Missense_Mutation_p.A342T|BNC2_ENST00000380666.2_Missense_Mutation_p.A409T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGACTGGGGCAGAATTCTGA	0.463																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1225-1227)Gcc>Acc		basonuclin 2							77.0	77.0	77.0					9																	16436967		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436967C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1225G>A	9.37:g.16436967C>T	ENSP00000370047:p.Ala409Thr					BNC2_ENST00000380667.2_Missense_Mutation_p.A342T|BNC2_ENST00000380666.2_Missense_Mutation_p.A409T|BNC2_ENST00000545497.1_Missense_Mutation_p.A314T	p.A409T	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1282	-			409						Missense_Mutation	SNP	ENST00000380672.4	37	c.1225G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	6.216	0.408033	0.11754	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.30714	1.56;1.54;1.57;1.57;1.52	5.96	5.07	0.68467	.	0.171243	0.52532	D	0.000078	T	0.09247	0.0228	N	0.00926	-1.1	0.30303	N	0.789245	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.16600	-1.0397	10	0.15066	T	0.55	-7.5351	7.2254	0.26012	0.0:0.7223:0.0:0.2777	.	314;342;409;235;409;366;409;314;174	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	409;366;342;314;235;409;409	ENSP00000370047:A409T;ENSP00000408370:A366T;ENSP00000370042:A342T;ENSP00000444640:A314T;ENSP00000370041:A409T	ENSP00000370041:A409T	A	-	1	0	BNC2	16426967	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.213000	0.32407	1.526000	0.49068	0.655000	0.94253	GCC		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		15	35	0	0	0	1	0	15	35				
BCL9L	283149	broad.mit.edu	37	11	118772814	118772814	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118772814C>T	ENST00000334801.3	-	6	2602	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	546					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCATGTCCTGCAGAGGACGGC	0.632																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1636-1638)ctG>ctA		B-cell CLL/lymphoma 9-like							76.0	78.0	77.0					11																	118772814		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772814C>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1638G>A	11.37:g.118772814C>T						BCL9L_ENST00000526143.1_5'UTR	p.L546L	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2602	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	546					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.1638G>A	CCDS8403.1																																																																																				0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		10	30	0	0	0	1	0	10	30				
UTRN	7402	broad.mit.edu	37	6	144809945	144809945	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144809945C>A	ENST00000367545.3	+	29	4109	c.4109C>A	c.(4108-4110)gCt>gAt	p.A1370D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1370	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGATAGATGCTTTCCAAGTT	0.488																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4108-4110)gCt>gAt		utrophin							65.0	56.0	59.0					6																	144809945		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144809945C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4109C>A	6.37:g.144809945C>A	ENSP00000356515:p.Ala1370Asp						p.A1370D	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	29	4109	+		Ovarian(120;0.218)	1370			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4109C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013801	0.93404	.	.	ENSG00000152818	ENST00000367545	T	0.24723	1.84	5.42	5.42	0.78866	.	0.000000	0.50627	D	0.000113	T	0.47673	0.1458	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47983	-0.9074	10	0.66056	D	0.02	.	19.5799	0.95461	0.0:1.0:0.0:0.0	.	1370	P46939	UTRO_HUMAN	D	1370	ENSP00000356515:A1370D	ENSP00000356515:A1370D	A	+	2	0	UTRN	144851638	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.445000	0.80570	2.695000	0.91970	0.650000	0.86243	GCT		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	11	1	0	1.08611e-07	1	1.14056e-07	11	11				
GJB6	10804	broad.mit.edu	37	13	20797512	20797512	+	Silent	SNP	G	G	A	rs199700601		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20797512G>A	ENST00000356192.6	-	5	728	c.108C>T	c.(106-108)ctC>ctT	p.L36L	GJB6_ENST00000241124.6_Silent_p.L36L|GJB6_ENST00000400065.3_Silent_p.L36L|GJB6_ENST00000400066.3_Silent_p.L36L	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	36					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CAGCCACCACGAGGATCATGA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19697	0.0		0.0	False		,,,				2504	0.0					ENST00000356192.6																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9						c.(106-108)ctC>ctT		gap junction protein, beta 6, 30kDa							123.0	107.0	112.0					13																	20797512		2203	4300	6503	SO:0001819	synonymous_variant	0				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		g.chr13:20797512G>A	AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.108C>T	13.37:g.20797512G>A						GJB6_ENST00000400066.3_Silent_p.L36L|GJB6_ENST00000400065.3_Silent_p.L36L|GJB6_ENST00000241124.6_Silent_p.L36L	p.L36L	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)	5	728	-		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	36					B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	37	c.108C>T	CCDS9291.1																																																																																				0.532	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1			39	56	0	0	0	1	0	39	56				
RP11-252A24.2	0	broad.mit.edu	37	16	74372693	74372693	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:74372693C>A	ENST00000429810.2	-	0	1503																											CTCCATCCACCTGGCTCCCTG	0.493																																						ENST00000429810.2																			0																																																			0							g.chr16:74372693C>A																													16.37:g.74372693C>A														0	1503	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.493	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	18	1	0	0.0477658	1	0.0480142	8	18				
DCAF15	90379	broad.mit.edu	37	19	14070696	14070696	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:14070696G>A	ENST00000254337.6	+	9	1450	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	477					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTATGACATCGTCATTCTGGA	0.597											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1429-1431)Gtc>Atc		DDB1 and CUL4 associated factor 15							79.0	72.0	74.0					19																	14070696		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14070696G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1429G>A	19.37:g.14070696G>A	ENSP00000254337:p.Val477Ile		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.V477I	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			9	1450	+			477					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1429G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354366	0.61293	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000003	T	0.45115	0.1326	L	0.34521	1.04	0.58432	D	0.999999	D	0.56746	0.977	B	0.42495	0.389	T	0.53620	-0.8413	9	0.66056	D	0.02	-27.3987	16.174	0.81840	0.0:0.0:1.0:0.0	.	477	Q66K64	DCA15_HUMAN	I	477	.	ENSP00000254337:V477I	V	+	1	0	DCAF15	13931696	1.000000	0.71417	0.954000	0.39281	0.427000	0.31564	8.489000	0.90461	2.121000	0.65114	0.549000	0.68633	GTC		0.597	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		9	25	0	0	0	1	0	9	25				
CDCA3	83461	broad.mit.edu	37	12	6958585	6958585	+	Missense_Mutation	SNP	G	G	A	rs199554560		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:6958585G>A	ENST00000538862.2	-	5	1454	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.R160C|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.R185C			Q99618	CDCA3_HUMAN	cell division cycle associated 3	185					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CATCTATTGCGCATAGAACCT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					ENST00000538862.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(553-555)Cgc>Tgc		cell division cycle associated 3							126.0	128.0	127.0					12																	6958585		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6958585G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.553C>T	12.37:g.6958585G>A	ENSP00000442068:p.Arg185Cys					CDCA3_ENST00000535406.1_Missense_Mutation_p.R185C|CDCA3_ENST00000229265.6_Missense_Mutation_p.R160C|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron	p.R185C			Q99618	CDCA3_HUMAN			5	1454	-			185					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.553C>T	CCDS8565.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.247	0.413691	0.11812	.	.	ENSG00000111665	ENST00000229265;ENST00000538862;ENST00000535406	.	.	.	5.1	-1.09	0.09904	.	1.354520	0.04376	N	0.359935	T	0.25419	0.0618	N	0.13043	0.29	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.23404	-1.0189	9	0.52906	T	0.07	-16.6511	4.9599	0.14061	0.3654:0.0:0.5033:0.1313	.	185	Q99618	CDCA3_HUMAN	C	160;185;185	.	ENSP00000229265:R160C	R	-	1	0	CDCA3	6828846	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	-0.393000	0.07305	-0.296000	0.08947	0.655000	0.94253	CGC		0.512	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		18	17	0	0	0	1	0	18	17				
NTRK1	4914	broad.mit.edu	37	1	156843599	156843599	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156843599G>A	ENST00000524377.1	+	8	1066	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	NTRK1_ENST00000392302.2_Missense_Mutation_p.R312Q|NTRK1_ENST00000368196.3_Missense_Mutation_p.R342Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	342	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R312Q(3)|p.R342Q(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GAGACCGTGCGGCACGGGTGT	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		6	Substitution - Missense(6)	p.R312Q(3)|p.R342Q(3)	lung(2)|breast(2)|endometrium(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1024-1026)cGg>cAg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						59.0	41.0	47.0					1																	156843599		2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843599G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1025G>A	1.37:g.156843599G>A	ENSP00000431418:p.Arg342Gln	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.R312Q|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342Q|NTRK1_ENST00000524377.1_Missense_Mutation_p.R342Q	p.R342Q	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1145	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		342			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1025G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501462	0.26861	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	5.26	0.73747	Immunoglobulin-like fold (1);	0.119055	0.37955	N	0.001861	T	0.08268	0.0206	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27882	0.037;0.192;0.116;0.189	B;B;B;B	0.14578	0.004;0.004;0.003;0.011	T	0.20438	-1.0275	10	0.11485	T	0.65	.	7.9711	0.30127	0.0753:0.0:0.6822:0.2425	.	342;342;342;312	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Q	312;342;342;342	ENSP00000376120:R312Q;ENSP00000357179:R342Q;ENSP00000431418:R342Q;ENSP00000351486:R342Q	ENSP00000351486:R342Q	R	+	2	0	NTRK1	155110223	0.015000	0.18098	0.955000	0.39395	0.385000	0.30292	2.169000	0.42434	1.627000	0.50400	0.655000	0.94253	CGG		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		8	19	0	0	0	1	0	8	19				
HSPA12A	259217	broad.mit.edu	37	10	118466749	118466749	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118466749C>T	ENST00000369209.3	-	2	192	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	30						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATTCCTGTGTCCCCAAGACTC	0.542																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(88-90)Gac>Aac		heat shock 70kDa protein 12A							46.0	53.0	51.0					10																	118466749		1980	4149	6129	SO:0001583	missense	259217						ATP binding	g.chr10:118466749C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.88G>A	10.37:g.118466749C>T	ENSP00000358211:p.Asp30Asn						p.D30N	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	2	192	-			30						Missense_Mutation	SNP	ENST00000369209.3	37	c.88G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378792	0.95945	.	.	ENSG00000165868	ENST00000369209	T	0.43294	0.95	5.86	5.86	0.93980	.	0.091124	0.85682	D	0.000000	T	0.39517	0.1081	L	0.44542	1.39	0.80722	D	1	B	0.17038	0.02	B	0.18871	0.023	T	0.15435	-1.0437	10	0.19147	T	0.46	-23.4155	20.1931	0.98233	0.0:1.0:0.0:0.0	.	30	O43301	HS12A_HUMAN	N	30	ENSP00000358211:D30N	ENSP00000358211:D30N	D	-	1	0	HSPA12A	118456739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.817000	0.75252	2.771000	0.95319	0.563000	0.77884	GAC		0.542	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		4	12	0	0	0	1	0	4	12				
THUMPD2	80745	broad.mit.edu	37	2	39964026	39964026	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39964026G>A	ENST00000505747.1	-	10	1388	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.A424V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	454							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TGAAGTTGACGCTGTCTTGAA	0.423																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(1360-1362)gCg>gTg		THUMP domain containing 2							244.0	236.0	239.0					2																	39964026		2203	4300	6503	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39964026G>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1361C>T	2.37:g.39964026G>A	ENSP00000423933:p.Ala454Val					THUMPD2_ENST00000260619.6_Missense_Mutation_p.A424V	p.A454V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			10	1388	-		all_hematologic(82;0.248)	454					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1361C>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	g	1.197	-0.633667	0.03584	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.63	-6.51	0.01878	.	1.301660	0.05221	N	0.508596	T	0.15782	0.0380	N	0.11201	0.11	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.20338	-1.0278	8	.	.	.	.	6.6011	0.22701	0.2655:0.0:0.4715:0.263	.	345;454	B4DP37;Q9BTF0	.;THUM2_HUMAN	V	454;424	.	.	A	-	2	0	THUMPD2	39817530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.970000	0.03810	-1.304000	0.02329	-1.814000	0.00607	GCG		0.423	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		16	138	0	0	0	1	0	16	138				
ZNF326	284695	broad.mit.edu	37	1	90487883	90487883	+	Silent	SNP	G	G	A	rs146247512	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:90487883G>A	ENST00000340281.4	+	11	1523	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	ZNF326_ENST00000455342.2_Silent_p.A254A|ZNF326_ENST00000370447.3_Silent_p.A371A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	460					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAGTGAAGGCGCGATATGAAC	0.328													g|||	5	0.000998403	0.0	0.0	5008	,	,		17575	0.0		0.005	False		,,,				2504	0.0					ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1378-1380)gcG>gcA		zinc finger protein 326		A		0,4406		0,0,2203	195.0	215.0	209.0		1380	-10.5	0.4	1	dbSNP_134	209	11,8587	8.4+/-32.0	0,11,4288	no	coding-synonymous	ZNF326	NM_182976.2		0,11,6491	AA,AG,GG		0.1279,0.0,0.0846		460/583	90487883	11,12993	2203	4299	6502	SO:0001819	synonymous_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90487883G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1380G>A	1.37:g.90487883G>A						ZNF326_ENST00000370447.2_Silent_p.A371A|ZNF326_ENST00000455342.2_Silent_p.A254A	p.A460A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	11	1523	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	460					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	c.1380G>A	CCDS727.1																																																																																				0.328	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		38	154	0	0	0	1	0	38	154				
ZNF649	65251	broad.mit.edu	37	19	52394712	52394712	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:52394712C>A	ENST00000354957.3	-	5	961	c.677G>T	c.(676-678)aGa>aTa	p.R226I	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Intron	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGTGAGCTCTCTCGTGTTC	0.498																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(676-678)aGa>aTa		zinc finger protein 649							116.0	113.0	114.0					19																	52394712		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394712C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.677G>T	19.37:g.52394712C>A	ENSP00000347043:p.Arg226Ile					ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	p.R226I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	961	-		all_neural(266;0.0602)	226					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.677G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044028	0.36085	.	.	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.33	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43055	0.1230	M	0.79693	2.465	0.18873	N	0.999982	D	0.63046	0.992	P	0.57244	0.816	T	0.21827	-1.0234	9	0.59425	D	0.04	.	7.7614	0.28955	0.0:0.8629:0.0:0.137	.	226	Q9BS31	ZN649_HUMAN	I	226	ENSP00000347043:R226I	ENSP00000347043:R226I	R	-	2	0	ZNF649	57086524	0.000000	0.05858	0.017000	0.16124	0.067000	0.16453	-5.167000	0.00145	0.204000	0.20548	0.398000	0.26397	AGA		0.498	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		11	80	1	0	4.68919e-08	1	4.93693e-08	11	80				
VAMP5	10791	broad.mit.edu	37	2	85818895	85818895	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:85818895G>A	ENST00000306384.4	+	2	134	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	17	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.			T -> M (in Ref. 2; AAF36111). {ECO:0000305}.	cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						ACGAGGTGACGGAAATTATGC	0.602																																						ENST00000306384.4																			0				NS(1)|large_intestine(3)|lung(1)	5						c.(49-51)acG>acA		vesicle-associated membrane protein 5							152.0	129.0	137.0					2																	85818895		2203	4300	6503	SO:0001819	synonymous_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818895G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.51G>A	2.37:g.85818895G>A							p.T17T	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	134	+			17	T -> M (in Ref. 2; AAF36111).		v-SNARE coiled-coil homology.		Q9P0T2	Silent	SNP	ENST00000306384.4	37	c.51G>A	CCDS1980.1																																																																																				0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		20	43	0	0	0	1	0	20	43				
DUSP27	92235	broad.mit.edu	37	1	167097501	167097501	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167097501A>G	ENST00000361200.2	+	6	3299	c.3133A>G	c.(3133-3135)Acc>Gcc	p.T1045A	DUSP27_ENST00000271385.5_Missense_Mutation_p.T1045A|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1045A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1045					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTTCCGCCGGACCCCAGAGTC	0.582																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3133-3135)Acc>Gcc		dual specificity phosphatase 27 (putative)							31.0	36.0	34.0					1																	167097501		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097501A>G	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3133A>G	1.37:g.167097501A>G	ENSP00000354483:p.Thr1045Ala					DUSP27_ENST00000271385.5_Missense_Mutation_p.T1045A|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1045A	p.T1045A			Q5VZP5	DUS27_HUMAN			6	3299	+			1045					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3133A>G	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168877	0.21621	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03801	3.8;3.8;3.8	5.25	5.25	0.73442	.	0.395446	0.21728	N	0.070001	T	0.02193	0.0068	L	0.44542	1.39	0.28592	N	0.909594	B	0.26363	0.147	B	0.22152	0.038	T	0.29488	-1.0010	10	0.87932	D	0	-25.6022	11.5133	0.50507	0.866:0.0:0.0:0.134	.	1045	Q5VZP5	DUS27_HUMAN	A	1045	ENSP00000354483:T1045A;ENSP00000271385:T1045A;ENSP00000404874:T1045A	ENSP00000271385:T1045A	T	+	1	0	DUSP27	165364125	0.996000	0.38824	0.884000	0.34674	0.310000	0.27922	4.724000	0.61972	1.961000	0.56991	0.523000	0.50628	ACC		0.582	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	9	0	0	0	1	0	5	9				
PARP12	64761	broad.mit.edu	37	7	139724618	139724618	+	Silent	SNP	C	C	T	rs375746909		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139724618C>T	ENST00000263549.3	-	12	2721	c.1848G>A	c.(1846-1848)acG>acA	p.T616T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	616	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.T616T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAGGAACATCGTGTGGGTCT	0.597																																						ENST00000263549.3																			1	Substitution - coding silent(1)	p.T616T(1)	skin(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1846-1848)acG>acA		poly (ADP-ribose) polymerase family, member 12		T		1,4405	2.1+/-5.4	0,1,2202	82.0	66.0	71.0		1848	-10.4	0.0	7		71	0,8600		0,0,4300	no	coding-synonymous	PARP12	NM_022750.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		616/702	139724618	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724618C>T	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1848G>A	7.37:g.139724618C>T							p.T616T	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			12	2721	-	Melanoma(164;0.0142)		616			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.1848G>A	CCDS5857.1																																																																																				0.597	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		13	18	0	0	0	1	0	13	18				
PTPRD	5789	broad.mit.edu	37	9	8499806	8499806	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8499806C>A	ENST00000381196.4	-	22	2706	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E708D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E708D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E721D|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000356435.5_Missense_Mutation_p.E721D|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	721	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTGACAGCCTCTACCTCGA	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2161-2163)gaG>gaT		protein tyrosine phosphatase, receptor type, D							134.0	120.0	124.0					9																	8499806		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8499806C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2163G>T	9.37:g.8499806C>A	ENSP00000370593:p.Glu721Asp	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.E721D|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E721D|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E708D|PTPRD_ENST00000358503.5_Missense_Mutation_p.E708D|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	p.E721D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2706	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	721			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2163G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689400	0.88735	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	L	0.31578	0.945	0.80722	D	1	B;B;B	0.33171	0.112;0.4;0.009	B;B;B	0.30251	0.049;0.113;0.033	T	0.22661	-1.0210	9	.	.	.	.	19.824	0.96608	0.0:1.0:0.0:0.0	.	708;721;721	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	D	721;721;708;708;721	ENSP00000370593:E721D;ENSP00000348812:E721D;ENSP00000353187:E708D;ENSP00000351293:E708D;ENSP00000438164:E721D	.	E	-	3	2	PTPRD	8489806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.699000	0.92147	0.591000	0.81541	GAG		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			17	45	1	0	8.34094e-07	1	8.70022e-07	17	45				
TRDN	10345	broad.mit.edu	37	6	123600201	123600201	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:123600201G>A	ENST00000398178.3	-	25	1558	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	TRDN_ENST00000334268.4_Splice_Site_p.Q513*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	513					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TATAACATACGTGGAGGTTTA	0.269																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e25+1		triadin							194.0	178.0	183.0					6																	123600201		1818	4076	5894	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600201G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1537+1C>T	6.37:g.123600201G>A						TRDN_ENST00000398178.3_Splice_Site_p.Q513_splice	p.Q513_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1854	-			513					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1537_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044985	0.97231	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.35	4.35	0.52113	.	0.520454	0.16040	N	0.232441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3369	12.6867	0.56952	0.0:0.0:1.0:0.0	.	.	.	.	X	513;515;513	.	.	Q	-	1	0	TRDN	123641900	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.095000	0.57728	2.723000	0.93209	0.655000	0.94253	CAA		0.269	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Nonsense_Mutation	16	27	0	0	0	1	0	16	27				
LDB3	11155	broad.mit.edu	37	10	88476313	88476313	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88476313T>C	ENST00000361373.4	+	9	1482	c.1461T>C	c.(1459-1461)cgT>cgC	p.R487R	LDB3_ENST00000263066.6_Silent_p.R377R|LDB3_ENST00000352360.5_Silent_p.R230R|LDB3_ENST00000429277.2_Silent_p.R492R|LDB3_ENST00000458213.2_Silent_p.R377R	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCAGCCGTCCACCCTGGG	0.662																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1474-1476)cgT>cgC		LIM domain binding 3							75.0	81.0	79.0					10																	88476313		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88476313T>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1461T>C	10.37:g.88476313T>C						LDB3_ENST00000352360.5_Silent_p.R230R|LDB3_ENST00000361373.4_Silent_p.R487R|LDB3_ENST00000263066.6_Silent_p.R377R|LDB3_ENST00000458213.2_Silent_p.R377R	p.R492R	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			10	1621	+			487						Silent	SNP	ENST00000361373.4	37	c.1476T>C	CCDS7377.1																																																																																				0.662	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			37	49	0	0	0	1	0	37	49				
GLYR1	84656	broad.mit.edu	37	16	4873895	4873895	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4873895G>A	ENST00000321919.9	-	6	627	c.551C>T	c.(550-552)cCg>cTg	p.P184L	GLYR1_ENST00000436648.5_Missense_Mutation_p.P103L|GLYR1_ENST00000591451.1_Missense_Mutation_p.P184L|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.P184L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	184					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ACTAGACTCCGGGATGGTGAG	0.537																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(550-552)cCg>cTg		glyoxylate reductase 1 homolog (Arabidopsis)							114.0	111.0	112.0					16																	4873895		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873895G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.551C>T	16.37:g.4873895G>A	ENSP00000322716:p.Pro184Leu					GLYR1_ENST00000436648.5_Missense_Mutation_p.P103L|GLYR1_ENST00000381983.3_Missense_Mutation_p.P184L|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.P184L	p.P184L	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			6	627	-			184					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.551C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791208	0.90367	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.69306	-0.27;-0.17;-0.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;0.999;1.0	P;D;D;D	0.74023	0.526;0.946;0.921;0.982	T	0.75944	-0.3139	10	0.72032	D	0.01	-10.7628	18.3816	0.90453	0.0:0.0:1.0:0.0	.	103;184;184;184	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	L	184;184;103	ENSP00000322716:P184L;ENSP00000371413:P184L;ENSP00000390276:P103L	ENSP00000322716:P184L	P	-	2	0	GLYR1	4813896	1.000000	0.71417	0.700000	0.30305	0.934000	0.57294	7.212000	0.77941	2.703000	0.92315	0.591000	0.81541	CCG		0.537	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		22	67	0	0	0	1	0	22	67				
ZNF793	390927	broad.mit.edu	37	19	38028666	38028666	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38028666G>A	ENST00000587143.1	+	6	1341	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	ZNF793_ENST00000445217.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000542455.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTATGGGTGCAATGAATGT	0.428																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1105-1107)tGc>tAc		zinc finger protein 793							57.0	63.0	61.0					19																	38028666		2143	4286	6429	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028666G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1106G>A	19.37:g.38028666G>A	ENSP00000468605:p.Cys369Tyr					ZNF793_ENST00000587143.1_Missense_Mutation_p.C369Y|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.C369Y	p.C369Y			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1141	+			190					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.1106G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662999	0.67700	.	.	ENSG00000188227	ENST00000542455;ENST00000445217	D;D	0.85088	-1.94;-1.94	3.95	3.95	0.45737	.	.	.	.	.	D	0.93986	0.8074	M	0.93462	3.42	0.37485	D	0.916148	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	8	.	.	.	.	15.2562	0.73588	0.0:0.0:1.0:0.0	.	369	E9PGN4	.	Y	369	ENSP00000444355:C369Y;ENSP00000396402:C369Y	.	C	+	2	0	ZNF793	42720506	1.000000	0.71417	0.100000	0.21137	0.981000	0.71138	8.546000	0.90661	2.172000	0.68678	0.650000	0.86243	TGC		0.428	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		17	28	0	0	0	1	0	17	28				
DLG5	9231	broad.mit.edu	37	10	79589981	79589981	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:79589981C>T	ENST00000372391.2	-	11	2008	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	DLG5_ENST00000372388.2_Missense_Mutation_p.R668H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	668	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTACCTTAAGCGGCCATCAGC	0.542																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2002-2004)cGc>cAc		discs, large homolog 5 (Drosophila)							99.0	87.0	91.0					10																	79589981		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589981C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2003G>A	10.37:g.79589981C>T	ENSP00000361467:p.Arg668His					DLG5_ENST00000372388.2_Missense_Mutation_p.R668H	p.R668H	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		11	2008	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		668			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2003G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990153	0.74589	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.27557	1.66;1.66	5.47	5.47	0.80525	PDZ/DHR/GLGF (4);	0.000000	0.32459	N	0.006062	T	0.65512	0.2698	M	0.90019	3.08	0.44155	D	0.996958	P;D;D	0.89917	0.953;0.982;1.0	P;P;D	0.83275	0.631;0.804;0.996	T	0.72858	-0.4165	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	558;668;668	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	H	668;668;217	ENSP00000361467:R668H;ENSP00000361464:R668H	ENSP00000361464:R668H	R	-	2	0	DLG5	79259987	1.000000	0.71417	0.951000	0.38953	0.839000	0.47603	7.479000	0.81095	2.560000	0.86352	0.561000	0.74099	CGC		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			13	22	0	0	0	1	0	13	22				
RABL3	285282	broad.mit.edu	37	3	120424911	120424911	+	Missense_Mutation	SNP	G	G	A	rs144478835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:120424911G>A	ENST00000273375.3	-	4	348	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RABL3_ENST00000483733.1_Missense_Mutation_p.R107C|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	107	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.R107C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GACCAACGACGCAAGTTTTGG	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17923	0.0		0.0	False		,,,				2504	0.0					ENST00000273375.3																			1	Substitution - Missense(1)	p.R107C(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17						c.(319-321)Cgt>Tgt		RAB, member of RAS oncogene family-like 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	112.0	111.0		319	1.6	1.0	3	dbSNP_134	111	0,8600		0,0,4300	no	missense	RABL3	NM_173825.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	107/237	120424911	1,13005	2203	4300	6503	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120424911G>A	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.319C>T	3.37:g.120424911G>A	ENSP00000273375:p.Arg107Cys					RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.R107C	p.R107C	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	348	-			107			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.319C>T	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717904	0.48622	2.27E-4	0.0	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.78126	-1.15;-1.15	5.61	1.59	0.23543	.	0.112676	0.64402	D	0.000007	T	0.68659	0.3025	M	0.65975	2.015	0.35236	D	0.777347	P	0.46395	0.877	B	0.38264	0.269	T	0.69480	-0.5134	10	0.51188	T	0.08	-0.2813	5.4813	0.16725	0.7274:0.0:0.1445:0.1281	.	107	Q5HYI8	RABL3_HUMAN	C	107	ENSP00000273375:R107C;ENSP00000419986:R107C	ENSP00000273375:R107C	R	-	1	0	RABL3	121907601	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	5.842000	0.69417	0.062000	0.16340	-0.290000	0.09829	CGT		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		8	45	0	0	0	1	0	8	45				
FAT4	79633	broad.mit.edu	37	4	126372317	126372317	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:126372317A>G	ENST00000394329.3	+	9	10159	c.10146A>G	c.(10144-10146)agA>agG	p.R3382R	FAT4_ENST00000335110.5_Silent_p.R1680R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3382	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCATTAGAGGTGCAGATA	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10144-10146)agA>agG		FAT atypical cadherin 4							169.0	163.0	165.0					4																	126372317		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372317A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10146A>G	4.37:g.126372317A>G						FAT4_ENST00000335110.5_Silent_p.R1680R	p.R3382R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10159	+			3382			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10146A>G	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		49	75	0	0	0	1	0	49	75				
ZNF768	79724	broad.mit.edu	37	16	30537189	30537189	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30537189G>T	ENST00000380412.5	-	2	447	c.272C>A	c.(271-273)cCt>cAt	p.P91H	ZNF768_ENST00000562803.1_Missense_Mutation_p.P60H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	91	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CACAAGCCCAGGGCTTCGGGA	0.567																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(271-273)cCt>cAt		zinc finger protein 768							36.0	45.0	42.0					16																	30537189		2192	4298	6490	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537189G>T	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.272C>A	16.37:g.30537189G>T	ENSP00000369777:p.Pro91His					ZNF768_ENST00000562803.1_Missense_Mutation_p.P60H	p.P91H	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	447	-			91			Pro-rich.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.272C>A	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717044	0.48622	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.12984	2.63	4.23	4.23	0.50019	.	0.000000	0.46758	D	0.000266	T	0.09512	0.0234	N	0.19112	0.55	0.31616	N	0.650885	B	0.26195	0.144	B	0.23419	0.046	T	0.06881	-1.0802	10	0.23891	T	0.37	-6.4807	14.5687	0.68197	0.0:0.0:1.0:0.0	.	91	Q9H5H4	ZN768_HUMAN	H	91;60	ENSP00000369777:P91H	ENSP00000369777:P91H	P	-	2	0	ZNF768	30444690	0.157000	0.22836	1.000000	0.80357	0.954000	0.61252	0.717000	0.25851	2.648000	0.89879	0.561000	0.74099	CCT		0.567	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		24	40	1	0	4.72057e-08	1	4.96844e-08	24	40				
ZNF182	7569	broad.mit.edu	37	X	47836866	47836866	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47836866C>T	ENST00000396965.1	-	7	970	c.620G>A	c.(619-621)gGc>gAc	p.G207D	ZNF182_ENST00000376943.3_Missense_Mutation_p.G188D|ZNF182_ENST00000305127.6_Missense_Mutation_p.G207D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTCTTTATAGCCATAGGGCTT	0.368																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(619-621)gGc>gAc		zinc finger protein 182							65.0	60.0	62.0					X																	47836866		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836866C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.620G>A	X.37:g.47836866C>T	ENSP00000380165:p.Gly207Asp					ZNF182_ENST00000376943.3_Missense_Mutation_p.G188D|ZNF182_ENST00000305127.6_Missense_Mutation_p.G207D	p.G207D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	970	-			207					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.620G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569783	0.00895	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.27890	1.64;1.64;1.64	4.25	-0.934	0.10428	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B;B	0.27853	0.191;0.023;0.035	B;B;B	0.31686	0.134;0.046;0.018	T	0.27872	-1.0061	9	0.42905	T	0.14	.	4.8007	0.13296	0.5893:0.2155:0.0:0.1952	.	187;188;207	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	188;207;207	ENSP00000366142:G188D;ENSP00000380165:G207D;ENSP00000306351:G207D	ENSP00000306351:G207D	G	-	2	0	ZNF182	47721810	0.000000	0.05858	0.963000	0.40424	0.078000	0.17371	-1.541000	0.02198	-0.204000	0.10235	-1.142000	0.01873	GGC		0.368	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		8	35	0	0	0	1	0	8	35				
PCNXL3	399909	broad.mit.edu	37	11	65396390	65396390	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65396390G>A	ENST00000355703.3	+	24	4451	c.3912G>A	c.(3910-3912)cgG>cgA	p.R1304R		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1304						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTACGCTCGGCCCCTCAAGT	0.632																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3910-3912)cgG>cgA		pecanex-like 3 (Drosophila)							34.0	35.0	35.0					11																	65396390		2029	4180	6209	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65396390G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3912G>A	11.37:g.65396390G>A							p.R1304R	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			24	4451	+			1304					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3912G>A	CCDS44650.1																																																																																				0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	20	0	0	0	1	0	3	20				
MTUS2	23281	broad.mit.edu	37	13	29600325	29600325	+	Missense_Mutation	SNP	G	G	A	rs375213030		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29600325G>A	ENST00000431530.3	+	1	1578	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	497						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAGAAGCACGGGAAAGCAAA	0.488																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1519-1521)cGg>cAg		microtubule associated tumor suppressor candidate 2		G	GLN/ARG	0,3952		0,0,1976	85.0	89.0	88.0		1520	-3.0	0.0	13		88	2,8302		0,2,4150	no	missense	MTUS2	NM_001033602.2	43	0,2,6126	AA,AG,GG		0.0241,0.0,0.0163	benign	507/1380	29600325	2,12254	1976	4152	6128	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600325G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1520G>A	13.37:g.29600325G>A	ENSP00000392057:p.Arg507Gln						p.R507Q	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1578	+			497					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1520G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844707	0.32606	0.0	2.41E-4	ENSG00000132938	ENST00000431530	T	0.11604	2.76	5.92	-2.98	0.05513	.	1.146510	0.06458	N	0.728955	T	0.07052	0.0179	L	0.44542	1.39	0.09310	N	1	B	0.31879	0.344	B	0.22386	0.039	T	0.35699	-0.9778	9	.	.	.	.	2.5063	0.04645	0.422:0.0958:0.3442:0.138	.	497	Q5JR59	MTUS2_HUMAN	Q	507	ENSP00000392057:R507Q	.	R	+	2	0	MTUS2	28498325	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.221000	0.09202	-0.449000	0.07117	0.655000	0.94253	CGG		0.488	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	17	0	0	0	1	0	8	17				
PPP1R10	5514	broad.mit.edu	37	6	30573700	30573700	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30573700G>A	ENST00000376511.2	-	10	1405	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	285	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTAGACTCACGCTGTGGCGGG	0.458																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.e10+1		protein phosphatase 1, regulatory subunit 10							292.0	285.0	287.0					6																	30573700		2203	4300	6503	SO:0001630	splice_region_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30573700G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.853+1C>T	6.37:g.30573700G>A							p.P285_splice	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			10	1405	-			285			Interaction with TOX4 (By similarity).		O00405	Splice_Site	SNP	ENST00000376511.2	37	c.853_splice	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174425	0.57692	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.48836	0.8	5.68	5.68	0.88126	.	0.053525	0.85682	D	0.000000	T	0.48447	0.1500	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54860	-0.8230	10	0.62326	D	0.03	-8.5297	18.5564	0.91086	0.0:0.0:1.0:0.0	.	285	Q96QC0	PP1RA_HUMAN	S	285	ENSP00000365694:P285S	ENSP00000365694:P285S	P	-	1	0	PPP1R10	30681679	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.305000	0.89960	2.671000	0.90904	0.650000	0.86243	CCT		0.458	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	Missense_Mutation	6	190	0	0	0	1	0	6	190				
TTN	7273	broad.mit.edu	37	2	179640133	179640133	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179640133G>A	ENST00000591111.1	-	28	6682	c.6458C>T	c.(6457-6459)gCc>gTc	p.A2153V	TTN_ENST00000342992.6_Missense_Mutation_p.A2153V|TTN_ENST00000360870.5_Missense_Mutation_p.A2153V|TTN_ENST00000359218.5_Missense_Mutation_p.A2107V|TTN_ENST00000460472.2_Missense_Mutation_p.A2107V|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2153V|TTN_ENST00000342175.6_Missense_Mutation_p.A2107V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12482	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTTGATGGCTTTTACCAT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6457-6459)gCc>gTc		titin							108.0	100.0	102.0					2																	179640133		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640133G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6458C>T	2.37:g.179640133G>A	ENSP00000465570:p.Ala2153Val					TTN_ENST00000342175.6_Missense_Mutation_p.A2107V|TTN_ENST00000360870.5_Missense_Mutation_p.A2153V|TTN_ENST00000591111.1_Missense_Mutation_p.A2153V|TTN_ENST00000460472.2_Missense_Mutation_p.A2107V|TTN_ENST00000342992.6_Missense_Mutation_p.A2153V|TTN_ENST00000359218.5_Missense_Mutation_p.A2107V	p.A2153V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6682	-			1914			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6458C>T		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302431	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84092	0.5396	M	0.72353	2.195	0.45076	D	0.99809	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.85792	0.1368	9	0.87932	D	0	.	18.8847	0.92372	0.0:0.0:1.0:0.0	.	2107;2107;2107;2153;2153	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2153;2107;2107;2107;2107;2153	ENSP00000343764:A2153V;ENSP00000434586:A2107V;ENSP00000340554:A2107V;ENSP00000352154:A2107V;ENSP00000354117:A2153V	ENSP00000340554:A2107V	A	-	2	0	TTN	179348378	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	9.835000	0.99442	2.468000	0.83385	0.655000	0.94253	GCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	39	0	0	0	1	0	9	39				
DLGAP4	22839	broad.mit.edu	37	20	35060648	35060648	+	Silent	SNP	C	C	T	rs199906699		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:35060648C>T	ENST00000373907.2	+	2	727	c.528C>T	c.(526-528)gaC>gaT	p.D176D	DLGAP4_ENST00000339266.5_Silent_p.D176D|DLGAP4_ENST00000401952.2_Silent_p.D176D|DLGAP4_ENST00000373913.3_Silent_p.D176D			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	176					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGGAGGACGGCAAGGGCC	0.642																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(526-528)gaC>gaT		discs, large (Drosophila) homolog-associated protein 4		C		6,4400	9.9+/-24.2	0,6,2197	40.0	45.0	43.0		528	1.4	1.0	20		43	0,8600		0,0,4300	no	coding-synonymous	DLGAP4	NM_014902.4		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		176/990	35060648	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060648C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.528C>T	20.37:g.35060648C>T						DLGAP4_ENST00000373907.2_Silent_p.D176D|DLGAP4_ENST00000401952.2_Silent_p.D176D|DLGAP4_ENST00000339266.5_Silent_p.D176D	p.D176D			Q9Y2H0	DLGP4_HUMAN			3	1008	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	176					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.528C>T																																																																																					0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		15	21	0	0	0	1	0	15	21				
NR4A3	8013	broad.mit.edu	37	9	102590329	102590329	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:102590329C>T	ENST00000395097.2	+	3	734	c.5C>T	c.(4-6)cCc>cTc	p.P2L	NR4A3_ENST00000330847.1_Missense_Mutation_p.P13L|NR4A3_ENST00000338488.4_Missense_Mutation_p.P2L	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	2					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAGATATGCCCTGCGTCCAA	0.512			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(37-39)cCc>cTc		nuclear receptor subfamily 4, group A, member 3							100.0	84.0	90.0					9																	102590329		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590329C>T	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.5C>T	9.37:g.102590329C>T	ENSP00000378531:p.Pro2Leu					NR4A3_ENST00000395097.2_Missense_Mutation_p.P2L|NR4A3_ENST00000338488.4_Missense_Mutation_p.P2L	p.P13L			Q92570	NR4A3_HUMAN			2	82	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	2					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.38C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914995	0.92178	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.98876	-4.91;-5.1;-5.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.99876	1.1104	10	0.87932	D	0	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	13;2;2	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	L	2;2;13	ENSP00000378531:P2L;ENSP00000340301:P2L;ENSP00000333122:P13L	ENSP00000333122:P13L	P	+	2	0	NR4A3	101630150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.720000	0.93068	0.557000	0.71058	CCC		0.512	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			19	34	0	0	0	1	0	19	34				
GLB1L3	112937	broad.mit.edu	37	11	134163074	134163074	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:134163074G>A	ENST00000431683.2	+	9	847	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GLB1L3_ENST00000389887.5_Missense_Mutation_p.D283N	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	283					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACTTCACCAGGATACTTTCAA	0.473																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(847-849)Gat>Aat		galactosidase, beta 1-like 3							95.0	90.0	91.0					11																	134163074		1947	4156	6103	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134163074G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.847G>A	11.37:g.134163074G>A	ENSP00000396615:p.Asp283Asn					GLB1L3_ENST00000431683.2_Missense_Mutation_p.D283N	p.D283N			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	9	3343	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	283					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.847G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731503	0.15507	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97924	-4.06;-4.61	4.32	-8.64	0.00874	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92548	0.7633	N	0.25992	0.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.82129	-0.0610	9	0.33141	T	0.24	.	9.7055	0.40214	0.6476:0.0:0.2513:0.1011	.	283;283	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	N	283	ENSP00000374537:D283N;ENSP00000396615:D283N	ENSP00000374537:D283N	D	+	1	0	GLB1L3	133668284	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.158000	0.03153	-2.103000	0.00844	-1.888000	0.00539	GAT		0.473	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		8	16	0	0	0	1	0	8	16				
BRSK1	84446	broad.mit.edu	37	19	55814126	55814126	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55814126C>T	ENST00000309383.1	+	10	1196	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	BRSK1_ENST00000585418.1_Missense_Mutation_p.R307W|BRSK1_ENST00000326848.7_Missense_Mutation_p.R2W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R323W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	307					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGTAGCCATGCGGAGCCTGCC	0.652																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(919-921)Cgg>Tgg		BR serine/threonine kinase 1							48.0	48.0	48.0					19																	55814126		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814126C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.919C>T	19.37:g.55814126C>T	ENSP00000310649:p.Arg307Trp					BRSK1_ENST00000326848.7_Missense_Mutation_p.R2W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R307W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R323W	p.R307W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1196	+		Renal(1328;0.245)	307					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.919C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	19.01	3.742936	0.69418	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73152	-0.72;0.97	4.68	2.46	0.29980	Protein kinase-like domain (1);	0.067042	0.53938	D	0.000042	T	0.78886	0.4354	M	0.62723	1.935	0.30312	N	0.7884	D;D	0.89917	1.0;1.0	P;D	0.65987	0.872;0.94	T	0.76889	-0.2792	10	0.56958	D	0.05	.	11.9176	0.52774	0.4531:0.5469:0.0:0.0	.	307;323	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	307;2;2	ENSP00000310649:R307W;ENSP00000320853:R2W	ENSP00000310649:R307W	R	+	1	2	BRSK1	60505938	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.594000	0.24014	0.494000	0.27859	0.650000	0.86243	CGG		0.652	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		8	63	0	0	0	1	0	8	63				
TMEM131	23505	broad.mit.edu	37	2	98373685	98373685	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:98373685G>T	ENST00000186436.5	-	41	5757	c.5529C>A	c.(5527-5529)ccC>ccA	p.P1843P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1843						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGGAGGTGGAGGGAGCGTGAG	0.587																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(5527-5529)ccC>ccA		transmembrane protein 131							135.0	138.0	137.0					2																	98373685		2127	4236	6363	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98373685G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5529C>A	2.37:g.98373685G>T							p.P1843P	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			41	5757	-			1843						Silent	SNP	ENST00000186436.5	37	c.5529C>A	CCDS46368.1																																																																																				0.587	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		14	26	1	0	0.000151284	1	0.000155038	14	26				
GTF2IRD1	9569	broad.mit.edu	37	7	73927219	73927219	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:73927219C>T	ENST00000265755.3	+	3	576	c.183C>T	c.(181-183)agC>agT	p.S61S	GTF2IRD1_ENST00000476977.1_Silent_p.S61S|GTF2IRD1_ENST00000424337.2_Silent_p.S61S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.S61S	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	61					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACGATGAGAGCGCCTTTGTGG	0.612																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(181-183)agC>agT		GTF2I repeat domain containing 1							102.0	87.0	92.0					7																	73927219		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927219C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.183C>T	7.37:g.73927219C>T						GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.S61S|GTF2IRD1_ENST00000455841.2_Silent_p.S61S|GTF2IRD1_ENST00000265755.3_Silent_p.S61S	p.S61S			Q9UHL9	GT2D1_HUMAN			3	1874	+			61					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.183C>T	CCDS5571.1																																																																																				0.612	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		18	27	0	0	0	1	0	18	27				
RHOG	391	broad.mit.edu	37	11	3849003	3849003	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3849003C>T	ENST00000351018.4	-	2	523	c.366G>A	c.(364-366)caG>caA	p.Q122Q	RHOG_ENST00000396979.1_Silent_p.Q122Q|RHOG_ENST00000396978.1_Silent_p.Q122Q|RHOG_ENST00000533217.1_Silent_p.Q122Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	122					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GGGTGTCAGGCTGGGCTCTCA	0.652																																						ENST00000351018.4																			0				endometrium(2)	2						c.(364-366)caG>caA		ras homolog family member G							46.0	42.0	43.0					11																	3849003		2201	4298	6499	SO:0001819	synonymous_variant	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849003C>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"""ras homolog gene family, member G (rho G)"""	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.366G>A	11.37:g.3849003C>T						RHOG_ENST00000396979.1_Silent_p.Q122Q|RHOG_ENST00000533217.1_Silent_p.Q122Q|RHOG_ENST00000396978.1_Silent_p.Q122Q	p.Q122Q	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	523	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	122					P35238|Q8NI04	Silent	SNP	ENST00000351018.4	37	c.366G>A	CCDS7748.1																																																																																				0.652	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		6	8	0	0	0	1	0	6	8				
ERN1	2081	broad.mit.edu	37	17	62141351	62141351	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62141351A>G	ENST00000433197.3	-	10	1177	c.1082T>C	c.(1081-1083)cTg>cCg	p.L361P		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTACCTATCAGAAGCCAGTA	0.567											OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1081-1083)cTg>cCg		endoplasmic reticulum to nucleus signaling 1							81.0	87.0	85.0					17																	62141351		2099	4217	6316	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62141351A>G	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1082T>C	17.37:g.62141351A>G	ENSP00000401445:p.Leu361Pro		OREG0024657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059		p.L361P	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			10	1177	-			361						Missense_Mutation	SNP	ENST00000433197.3	37	c.1082T>C	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574007	0.86542	.	.	ENSG00000178607	ENST00000433197	T	0.66995	-0.24	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.82467	0.5043	M	0.80422	2.495	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.84998	0.0898	10	0.72032	D	0.01	-18.6356	15.9425	0.79768	1.0:0.0:0.0:0.0	.	361	O75460	ERN1_HUMAN	P	361	ENSP00000401445:L361P	ENSP00000401445:L361P	L	-	2	0	ERN1	59495083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.638000	0.91019	2.231000	0.72958	0.454000	0.30748	CTG		0.567	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		11	15	0	0	0	1	0	11	15				
SBF2	81846	broad.mit.edu	37	11	9864204	9864204	+	Missense_Mutation	SNP	C	C	T	rs568303179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9864204C>T	ENST00000256190.8	-	25	3361	c.3224G>A	c.(3223-3225)cGt>cAt	p.R1075H	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1075					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCATCCAGGACGATTTACTCT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20326	0.0		0.0	False		,,,				2504	0.0					ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3223-3225)cGt>cAt		SET binding factor 2							158.0	137.0	144.0					11																	9864204		2200	4294	6494	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9864204C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3224G>A	11.37:g.9864204C>T	ENSP00000256190:p.Arg1075His					RP11-1H15.2_ENST00000533659.1_RNA	p.R1075H	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	25	3361	-			1075					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3224G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322093	0.60634	.	.	ENSG00000133812	ENST00000256190	D	0.85702	-2.02	5.48	5.48	0.80851	.	0.048793	0.85682	D	0.000000	D	0.87414	0.6171	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.54346	0.749	D	0.86988	0.2108	10	0.45353	T	0.12	.	19.3452	0.94359	0.0:1.0:0.0:0.0	.	1075	Q86WG5	MTMRD_HUMAN	H	1075	ENSP00000256190:R1075H	ENSP00000256190:R1075H	R	-	2	0	SBF2	9820780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.402000	0.59722	2.579000	0.87056	0.585000	0.79938	CGT		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		13	52	0	0	0	1	0	13	52				
CDON	50937	broad.mit.edu	37	11	125864270	125864270	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:125864270A>G	ENST00000392693.3	-	14	2686	c.2559T>C	c.(2557-2559)agT>agC	p.S853S	CDON_ENST00000531738.1_Silent_p.S230S|CDON_ENST00000263577.7_Silent_p.S853S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	853	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTTATTGTTACTTGATGGAA	0.343																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2557-2559)agT>agC		cell adhesion associated, oncogene regulated							93.0	88.0	90.0					11																	125864270		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125864270A>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2559T>C	11.37:g.125864270A>G						CDON_ENST00000263577.7_Silent_p.S853S|CDON_ENST00000531738.1_Silent_p.S230S	p.S853S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	14	2686	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	853			Fibronectin type-III 3.		O14631	Silent	SNP	ENST00000392693.3	37	c.2559T>C	CCDS58192.1																																																																																				0.343	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		12	23	0	0	0	1	0	12	23				
PID1	55022	broad.mit.edu	37	2	230020593	230020593	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230020593C>T	ENST00000354069.6	-	2	247	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PID1_ENST00000392054.3_Missense_Mutation_p.A71T|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A40T			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	73					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGCTCAATGGCCTCCGGCTCA	0.512																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(211-213)Gcc>Acc		phosphotyrosine interaction domain containing 1							119.0	113.0	115.0					2																	230020593		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:230020593C>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.217G>A	2.37:g.230020593C>T	ENSP00000283937:p.Ala73Thr					PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A40T|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Missense_Mutation_p.A73T	p.A71T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	3	550	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	73					B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.211G>A		.	.	.	.	.	.	.	.	.	.	C	18.95	3.731295	0.69189	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.265171	0.35179	N	0.003399	T	0.60248	0.2254	L	0.27053	0.805	0.52099	D	0.999949	P;D;P	0.59767	0.59;0.986;0.935	B;P;P	0.55749	0.405;0.783;0.494	T	0.55016	-0.8206	8	.	.	.	-27.5217	19.2859	0.94069	0.0:1.0:0.0:0.0	.	40;71;73	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	T	71;40;73;73	.	.	A	-	1	0	PID1	229728837	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.353000	0.79414	2.873000	0.98535	0.563000	0.77884	GCC		0.512	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		11	45	0	0	0	1	0	11	45				
DDB1	1642	broad.mit.edu	37	11	61079290	61079290	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61079290C>T	ENST00000301764.7	-	18	2640	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	748	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGTCGTGCCCCCACTCGT	0.562								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2242-2244)gGc>gAc	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							101.0	89.0	93.0					11																	61079290		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079290C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2243G>A	11.37:g.61079290C>T	ENSP00000301764:p.Gly748Asp					DDB1_ENST00000450997.2_Intron	p.G748D	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			18	2640	-			748			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2243G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127701	0.37533	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.28454	1.61;1.61	5.66	5.66	0.87406	.	0.158612	0.56097	D	0.000021	T	0.20820	0.0501	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09443	-1.0674	10	0.12103	T	0.63	-24.1134	19.7449	0.96248	0.0:1.0:0.0:0.0	.	748	Q16531	DDB1_HUMAN	D	748;215	ENSP00000301764:G748D;ENSP00000444650:G215D	ENSP00000301764:G748D	G	-	2	0	DDB1	60835866	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.146000	0.71777	2.677000	0.91161	0.591000	0.81541	GGC		0.562	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		10	21	0	0	0	1	0	10	21				
CPNE8	144402	broad.mit.edu	37	12	39155959	39155959	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:39155959G>A	ENST00000331366.5	-	9	731	c.635C>T	c.(634-636)gCa>gTa	p.A212V	CPNE8_ENST00000360449.3_Missense_Mutation_p.A200V	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	212	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATCTTGAATGCTTGCCATAC	0.308																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(634-636)gCa>gTa		copine VIII							116.0	109.0	111.0					12																	39155959		2203	4299	6502	SO:0001583	missense	144402							g.chr12:39155959G>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.635C>T	12.37:g.39155959G>A	ENSP00000329748:p.Ala212Val					CPNE8_ENST00000360449.3_Missense_Mutation_p.A200V	p.A212V	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			9	731	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	212			C2 2.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.635C>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648137	0.67358	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.38560	1.13;1.13	4.05	4.05	0.47172	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059335	0.64402	D	0.000002	T	0.32224	0.0822	N	0.16130	0.375	0.80722	D	1	B	0.25719	0.132	B	0.33121	0.158	T	0.34527	-0.9825	10	0.72032	D	0.01	-16.7673	15.8798	0.79195	0.0:0.0:1.0:0.0	.	212	Q86YQ8	CPNE8_HUMAN	V	212;200	ENSP00000329748:A212V;ENSP00000353633:A200V	ENSP00000329748:A212V	A	-	2	0	CPNE8	37442226	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.419000	0.97397	2.209000	0.71365	0.650000	0.86243	GCA		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		12	13	0	0	0	1	0	12	13				
NRXN3	9369	broad.mit.edu	37	14	80164184	80164184	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:80164184C>T	ENST00000557594.1	+	4	1766	c.813C>T	c.(811-813)acC>acT	p.T271T	NRXN3_ENST00000428277.2_Silent_p.T301T|NRXN3_ENST00000281127.7_Silent_p.T271T|NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Silent_p.T903T|NRXN3_ENST00000335750.5_Silent_p.T903T	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	271					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACAGACGACCTCCATGCCAC	0.468																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(811-813)acC>acT		neurexin 3							123.0	103.0	110.0					14																	80164184		2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80164184C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.813C>T	14.37:g.80164184C>T						NRXN3_ENST00000335750.5_Silent_p.T903T|NRXN3_ENST00000554719.1_Silent_p.T903T|NRXN3_ENST00000557594.1_Silent_p.T271T|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Silent_p.T301T	p.T271T	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1692	+		Renal(4;0.00876)	271					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.813C>T																																																																																					0.468	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		29	48	0	0	0	1	0	29	48				
HPN	3249	broad.mit.edu	37	19	35551573	35551573	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35551573C>T	ENST00000262626.2	+	9	1488	c.663C>T	c.(661-663)gcC>gcT	p.A221A	HPN_ENST00000597419.1_Silent_p.A63A|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.A221A	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.A221A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TTGCCGGTGCCGTGGCCCAGG	0.677																																						ENST00000262626.2																			1	Substitution - coding silent(1)	p.A221A(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(661-663)gcC>gcT		hepsin	Coagulation factor VIIa(DB00036)						75.0	68.0	70.0					19																	35551573		2203	4299	6502	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551573C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.663C>T	19.37:g.35551573C>T						HPN_ENST00000392226.1_Silent_p.A221A|HPN_ENST00000597419.1_Silent_p.A63A|HPN-AS1_ENST00000392227.2_RNA	p.A221A	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		9	1488	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		221			Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.663C>T	CCDS32993.1																																																																																				0.677	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	31	0	0	0	1	0	4	31				
MESDC1	59274	broad.mit.edu	37	15	81295606	81295606	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:81295606G>A	ENST00000267984.2	+	1	2312	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	332										endometrium(1)|lung(2)	3						CTCGGCCTGCGCCGTGTCTGA	0.612																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(994-996)Gcc>Acc		mesoderm development candidate 1							15.0	20.0	18.0					15																	81295606		2196	4296	6492	SO:0001583	missense	59274							g.chr15:81295606G>A	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.994G>A	15.37:g.81295606G>A	ENSP00000267984:p.Ala332Thr						p.A332T	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2312	+			332						Missense_Mutation	SNP	ENST00000267984.2	37	c.994G>A	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291534	0.80914	.	.	ENSG00000140406	ENST00000267984	.	.	.	4.86	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.61451	0.2348	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.55386	-0.8149	9	0.16896	T	0.51	-11.6374	14.9579	0.71131	0.0:0.1439:0.8561:0.0	.	332	Q9H1K6	MESD1_HUMAN	T	332	.	ENSP00000267984:A332T	A	+	1	0	MESDC1	79082661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.194000	0.94962	0.999000	0.39023	0.549000	0.68633	GCC		0.612	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	4	0	0	0	1	0	3	4				
GREB1	9687	broad.mit.edu	37	2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:11772057C>T	ENST00000381486.2	+	27	4934	c.4634C>T	c.(4633-4635)cCg>cTg	p.P1545L	GREB1_ENST00000396123.1_Missense_Mutation_p.P543L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.463																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4633-4635)cCg>cTg		growth regulation by estrogen in breast cancer 1							91.0	86.0	88.0					2																	11772057		1891	4112	6003	SO:0001583	missense	9687					integral to membrane		g.chr2:11772057C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4634C>T	2.37:g.11772057C>T	ENSP00000370896:p.Pro1545Leu					GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L|GREB1_ENST00000396123.1_Missense_Mutation_p.P543L	p.P1545L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4934	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1545					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4634C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586422	0.66105	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.53423	0.62;0.62;0.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73610	-0.3928	10	0.87932	D	0	-29.1814	19.3358	0.94319	0.0:1.0:0.0:0.0	.	1545	Q4ZG55	GREB1_HUMAN	L	1545;1545;543	ENSP00000370896:P1545L;ENSP00000234142:P1545L;ENSP00000379429:P543L	ENSP00000234142:P1545L	P	+	2	0	GREB1	11689508	1.000000	0.71417	0.862000	0.33874	0.071000	0.16799	7.385000	0.79763	2.573000	0.86826	0.557000	0.71058	CCG		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		15	30	0	0	0	1	0	15	30				
AKAP13	11214	broad.mit.edu	37	15	86284631	86284631	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86284631C>T	ENST00000394518.2	+	35	8058	c.7963C>T	c.(7963-7965)Cgt>Tgt	p.R2655C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2655	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGACTGCGTGCTGCCCA	0.632																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7963-7965)Cgt>Tgt		A kinase (PRKA) anchor protein 13							46.0	43.0	44.0					15																	86284631		2200	4299	6499	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284631C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7963C>T	15.37:g.86284631C>T	ENSP00000378026:p.Arg2655Cys					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000560579.1_3'UTR	p.R2655C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8058	+			2655			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7963C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417009	0.62511	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.28069	1.63;1.63;1.63	5.47	5.47	0.80525	.	.	.	.	.	T	0.57636	0.2067	M	0.84082	2.675	0.48901	D	0.999722	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	T	0.63001	-0.6734	9	0.87932	D	0	.	13.3093	0.60370	0.1579:0.8421:0.0:0.0	.	2655;2659	Q12802;Q12802-2	AKP13_HUMAN;.	C	2659;2655;2658;2634;900	ENSP00000354718:R2659C;ENSP00000378026:R2655C;ENSP00000378018:R900C	ENSP00000354718:R2659C	R	+	1	0	AKAP13	84085635	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	2.824000	0.48088	2.554000	0.86153	0.655000	0.94253	CGT		0.632	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		9	15	0	0	0	1	0	9	15				
GLUD1	2746	broad.mit.edu	37	10	88820713	88820713	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88820713G>T	ENST00000277865.4	-	7	1114	c.1018C>A	c.(1018-1020)Cca>Aca	p.P340T	GLUD1_ENST00000544149.1_Missense_Mutation_p.P207T|GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000537649.1_Missense_Mutation_p.P173T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	340					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATACCATCTGGATTCCATATA	0.358																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(1018-1020)Cca>Aca		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						177.0	182.0	180.0					10																	88820713		2203	4298	6501	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88820713G>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1018C>A	10.37:g.88820713G>T	ENSP00000277865:p.Pro340Thr					GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.P207T|GLUD1_ENST00000537649.1_Missense_Mutation_p.P173T	p.P340T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			7	1114	-			340					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1018C>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191846	0.58017	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.97328	-4.34;-4.34;-4.34	5.72	4.8	0.61643	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.217275	0.47852	D	0.000202	D	0.97604	0.9215	M	0.91406	3.205	0.80722	D	1	B;B	0.32203	0.084;0.36	B;B	0.39119	0.131;0.291	D	0.97823	1.0258	10	0.62326	D	0.03	-23.4795	15.7032	0.77558	0.0687:0.0:0.9313:0.0	.	207;340	B4DGN5;P00367	.;DHE3_HUMAN	T	340;297;173;39;272;207	ENSP00000277865:P340T;ENSP00000439291:P173T;ENSP00000444732:P207T	ENSP00000277865:P340T	P	-	1	0	GLUD1	88810693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.617000	0.74210	2.878000	0.98634	0.650000	0.86243	CCA		0.358	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		74	137	1	0	2.22156e-40	1	2.49648e-40	74	137				
PIK3C2G	5288	broad.mit.edu	37	12	18552761	18552761	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18552761T>C	ENST00000266497.5	+	14	2210	c.2172T>C	c.(2170-2172)gcT>gcC	p.A724A	PIK3C2G_ENST00000538779.1_Silent_p.A765A|PIK3C2G_ENST00000433979.1_Silent_p.A724A			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	724	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTAGAGGCTCTTGGGCTTT	0.388																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(2170-2172)gcT>gcC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							63.0	62.0	62.0					12																	18552761		1836	4087	5923	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18552761T>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2172T>C	12.37:g.18552761T>C						PIK3C2G_ENST00000538779.1_Silent_p.A765A|PIK3C2G_ENST00000266497.5_Silent_p.A724A	p.A724A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			15	2288	+		Hepatocellular(102;0.194)	724					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2172T>C	CCDS44839.1																																																																																				0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		11	11	0	0	0	1	0	11	11				
RNF20	56254	broad.mit.edu	37	9	104312963	104312963	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:104312963G>A	ENST00000389120.3	+	10	1258	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	390					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACAGTTCTCCGTCTTGTATAA	0.512																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1168-1170)Gtc>Atc		ring finger protein 20, E3 ubiquitin protein ligase							222.0	218.0	219.0					9																	104312963		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312963G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1168G>A	9.37:g.104312963G>A	ENSP00000373772:p.Val390Ile						p.V390I	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1258	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	390					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1168G>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004435	0.74932	.	.	ENSG00000155827	ENST00000389120	T	0.36520	1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	L	0.58428	1.81	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.47959	-0.9076	10	0.38643	T	0.18	-15.0721	19.9164	0.97064	0.0:0.0:1.0:0.0	.	390	Q5VTR2	BRE1A_HUMAN	I	390	ENSP00000373772:V390I	ENSP00000373772:V390I	V	+	1	0	RNF20	103352784	1.000000	0.71417	0.969000	0.41365	0.881000	0.50899	9.209000	0.95087	2.810000	0.96702	0.650000	0.86243	GTC		0.512	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		49	80	0	0	0	1	0	49	80				
ABCC11	85320	broad.mit.edu	37	16	48264351	48264351	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48264351G>A	ENST00000394747.1	-	2	582	c.233C>T	c.(232-234)cCg>cTg	p.P78L	ABCC11_ENST00000394748.1_Missense_Mutation_p.P78L|ABCC11_ENST00000353782.5_Missense_Mutation_p.P78L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P78L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P78L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	78					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.P78L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GACTCACCTCGGCTTGGGACG	0.572																																						ENST00000394747.1																			1	Substitution - Missense(1)	p.P78L(1)	skin(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(232-234)cCg>cTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							87.0	80.0	82.0					16																	48264351		2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48264351G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.233C>T	16.37:g.48264351G>A	ENSP00000378230:p.Pro78Leu					ABCC11_ENST00000353782.5_Missense_Mutation_p.P78L|ABCC11_ENST00000394748.1_Missense_Mutation_p.P78L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P78L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P78L	p.P78L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			2	582	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	78					Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.233C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940095	0.52972	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92699	-2.88;-2.79;-2.79;-2.79;-3.09	4.84	4.84	0.62591	.	0.141220	0.49916	D	0.000133	D	0.94245	0.8152	M	0.61703	1.905	0.39711	D	0.971329	D;D	0.76494	0.999;0.997	P;P	0.61070	0.883;0.861	D	0.94841	0.8005	10	0.54805	T	0.06	.	14.8552	0.70332	0.0:0.0:1.0:0.0	.	78;78	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	78	ENSP00000311326:P78L;ENSP00000349017:P78L;ENSP00000378231:P78L;ENSP00000378230:P78L;ENSP00000438530:P78L	ENSP00000311326:P78L	P	-	2	0	ABCC11	46821852	0.954000	0.32549	0.919000	0.36401	0.626000	0.37791	4.337000	0.59310	2.231000	0.72958	0.591000	0.81541	CCG		0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	11	0	0	0	1	0	8	11				
CORO1B	57175	broad.mit.edu	37	11	67206326	67206326	+	Missense_Mutation	SNP	G	G	A	rs149833628		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67206326G>A	ENST00000341356.5	-	10	1270	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.P387L|CORO1B_ENST00000539724.1_5'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	387					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GATGAGGATCGGGTCGGCATC	0.682																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1159-1161)cCg>cTg		coronin, actin binding protein, 1B		G	LEU/PRO,LEU/PRO	1,4395		0,1,2197	14.0	15.0	15.0		1160,1160	4.6	1.0	11	dbSNP_134	15	0,8580		0,0,4290	no	missense,missense	CORO1B	NM_001018070.2,NM_020441.2	98,98	0,1,6487	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	387/490,387/490	67206326	1,12975	2198	4290	6488	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206326G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1160C>T	11.37:g.67206326G>A	ENSP00000340211:p.Pro387Leu					CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.P387L	p.P387L	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1263	-			387					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.1160C>T	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155218	0.78114	2.27E-4	0.0	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.33438	1.41;1.41	4.58	4.58	0.56647	Domain of unknown function DUF1900 (1);	0.158715	0.30320	N	0.009896	T	0.65059	0.2655	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75096	-0.3438	10	0.66056	D	0.02	-20.4462	16.3418	0.83084	0.0:0.0:1.0:0.0	.	387	Q9BR76	COR1B_HUMAN	L	387	ENSP00000377471:P387L;ENSP00000340211:P387L	ENSP00000340211:P387L	P	-	2	0	CORO1B	66962902	1.000000	0.71417	0.953000	0.39169	0.234000	0.25298	9.590000	0.98238	2.372000	0.80975	0.555000	0.69702	CCG		0.682	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	12	0	0	0	1	0	4	12				
KCNMB2	10242	broad.mit.edu	37	3	178560711	178560711	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178560711C>T	ENST00000432997.1	+	5	1046	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R232W	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	246					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.R232W(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GAGGATCCAACGGATCAATAG	0.383																																						ENST00000432997.1																			1	Substitution - Missense(1)	p.R232W(1)	endometrium(1)	NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(694-696)Cgg>Tgg		potassium large conductance calcium-activated channel, subfamily M, beta member 2							60.0	60.0	60.0					3																	178560711		2203	4299	6502	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178560711C>T	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.694C>T	3.37:g.178560711C>T	ENSP00000407592:p.Arg232Trp					KCNMB2_ENST00000452583.1_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R232W|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R232W	p.R232W	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		5	1046	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		232					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.694C>T	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838724	0.51057	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.76	4.87	0.63330	.	0.054480	0.64402	D	0.000002	T	0.20700	0.0498	L	0.29908	0.895	0.46437	D	0.999049	D	0.89917	1.0	D	0.66979	0.948	T	0.01266	-1.1401	10	0.72032	D	0.01	-15.5841	13.7575	0.62946	0.3955:0.6045:0.0:0.0	.	232	Q9Y691	KCMB2_HUMAN	W	232;232;232;232;213	ENSP00000408252:R232W;ENSP00000397483:R232W;ENSP00000407592:R232W;ENSP00000351068:R232W	ENSP00000351068:R232W	R	+	1	2	KCNMB2	180043405	0.577000	0.26708	0.988000	0.46212	0.996000	0.88848	1.175000	0.31944	1.391000	0.46566	0.655000	0.94253	CGG		0.383	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		22	24	0	0	0	1	0	22	24				
DHX37	57647	broad.mit.edu	37	12	125449047	125449047	+	Silent	SNP	G	G	A	rs561296913		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:125449047G>A	ENST00000308736.2	-	15	2036	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	DHX37_ENST00000544745.1_Silent_p.Y433Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGACGCGGTCGTAGTAGCGTT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19521	0.001		0.0	False		,,,				2504	0.0					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(1936-1938)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							146.0	123.0	131.0					12																	125449047		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125449047G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1938C>T	12.37:g.125449047G>A						DHX37_ENST00000544745.1_Silent_p.Y433Y	p.Y646Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	15	2036	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		646			Helicase C-terminal.		Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.1938C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574609	0.13623	.	.	ENSG00000150990	ENST00000543962	.	.	.	5.17	-6.18	0.02085	.	.	.	.	.	T	0.72463	0.3463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78398	-0.2219	5	0.87932	D	0	-12.6372	17.802	0.88590	0.9028:0.0:0.0972:0.0	.	.	.	.	M	98	.	ENSP00000443661:T98M	T	-	2	0	DHX37	124015000	0.280000	0.24249	0.785000	0.31869	0.123000	0.20343	-0.357000	0.07651	-1.361000	0.02169	-0.448000	0.05591	ACG		0.617	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		17	22	0	0	0	1	0	17	22				
LGALS4	3960	broad.mit.edu	37	19	39299546	39299546	+	Silent	SNP	G	G	A	rs148221331	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39299546G>A	ENST00000307751.4	-	3	654	c.177C>T	c.(175-177)gaC>gaT	p.D59D	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	59	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGAAGGCGACGTCTGAGCCCG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		15633	0.0		0.002	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(175-177)gaC>gaT		lectin, galactoside-binding, soluble, 4							89.0	71.0	77.0					19																	39299546		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299546G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.177C>T	19.37:g.39299546G>A						LGALS4_ENST00000597803.1_Intron	p.D59D	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	654	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		59			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.177C>T	CCDS12521.1																																																																																				0.632	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		8	12	0	0	0	1	0	8	12				
EGFL6	25975	broad.mit.edu	37	X	13635866	13635866	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:13635866G>A	ENST00000361306.1	+	8	1053	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	EGFL6_ENST00000380602.3_Missense_Mutation_p.V266M	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	266					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGAAAATTCTGTGAAGGAAGT	0.333																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(796-798)Gtg>Atg		EGF-like-domain, multiple 6							113.0	117.0	115.0					X																	13635866		2203	4299	6502	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13635866G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.796G>A	X.37:g.13635866G>A	ENSP00000355126:p.Val266Met					EGFL6_ENST00000380602.3_Missense_Mutation_p.V266M	p.V266M	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			8	1053	+			266					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.796G>A	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021399	0.54576	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.71579	-0.58;-0.48	5.74	5.74	0.90152	.	0.204155	0.41500	D	0.000868	T	0.68375	0.2994	N	0.08118	0	0.49389	D	0.999781	D;D	0.67145	0.992;0.996	P;P	0.59761	0.863;0.86	T	0.72384	-0.4310	10	0.37606	T	0.19	.	18.9891	0.92784	0.0:0.0:1.0:0.0	.	266;266	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	M	266	ENSP00000355126:V266M;ENSP00000369976:V266M	ENSP00000355126:V266M	V	+	1	0	EGFL6	13545787	1.000000	0.71417	0.998000	0.56505	0.187000	0.23431	3.228000	0.51270	2.433000	0.82419	0.589000	0.80489	GTG		0.333	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		30	36	0	0	0	1	0	30	36				
PRRG3	79057	broad.mit.edu	37	X	150869494	150869494	+	Missense_Mutation	SNP	G	G	A	rs1106194	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:150869494G>A	ENST00000370353.3	+	4	1075	c.685G>A	c.(685-687)Gct>Act	p.A229T	PRRG3_ENST00000538575.1_Missense_Mutation_p.A229T			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	229						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCTGGCGCTGACAAGTA	0.542													G|||	11	0.00291391	0.0083	0.0	3775	,	,		12842	0.0		0.0	False		,,,				2504	0.0					ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(685-687)Gct>Act		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)		G	THR/ALA	26,3809		0,25,1,1607,570	83.0	74.0	77.0		685	1.1	0.7	X	dbSNP_86	77	0,6726		0,0,0,2427,1872	yes	missense	PRRG3	NM_024082.3	58	0,25,1,4034,2442	AA,AG,A,GG,G		0.0,0.678,0.2462	benign	229/232	150869494	26,10535	2203	4299	6502	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869494G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.685G>A	X.37:g.150869494G>A	ENSP00000359378:p.Ala229Thr					PRRG3_ENST00000538575.1_Missense_Mutation_p.A229T	p.A229T			Q9BZD7	TMG3_HUMAN			4	1075	+	Acute lymphoblastic leukemia(192;6.56e-05)		229					A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.685G>A	CCDS14699.1	3	0.0018083182640144665	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.803	0.713976	0.15306	0.00678	0.0	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98234	-4.81;-4.81	4.29	1.07	0.20283	.	0.722577	0.11629	N	0.545033	D	0.89539	0.6744	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83622	0.0140	9	.	.	.	.	4.4613	0.11668	0.2623:0.0:0.4727:0.2649	rs1106194;rs4345702	229	Q9BZD7	TMG3_HUMAN	T	229	ENSP00000440217:A229T;ENSP00000359378:A229T	.	A	+	1	0	PRRG3	150620150	0.000000	0.05858	0.721000	0.30653	0.241000	0.25554	-0.101000	0.10973	-0.002000	0.14469	-0.215000	0.12644	GCT		0.542	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		18	2	0	0	0	1	0	18	2				
IGLV1-51	28820	broad.mit.edu	37	22	22677099	22677099	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:22677099G>A	ENST00000390290.2	+	0	163				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 1-51																		CTCCTGCTCTGGAAGCAGCTC	0.552																																						ENST00000390290.2																			0																				70.0	76.0	74.0					22																	22677099		1911	4119	6030			0							g.chr22:22677099G>A	Z73661		22q11.2	2012-02-08			ENSG00000211644	ENSG00000211644		"""Immunoglobulins / IGL locus"""	5882	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151035		22.37:g.22677099G>A						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	163	+									RNA	SNP	ENST00000390290.2	37																																																																																						0.552	IGLV1-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321094.1	NG_000002		67	65	0	0	0	1	0	67	65				
HMGXB4	10042	broad.mit.edu	37	22	35660803	35660803	+	Missense_Mutation	SNP	C	C	T	rs199695099		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:35660803C>T	ENST00000216106.5	+	5	550	c.422C>T	c.(421-423)tCg>tTg	p.S141L	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S32L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	141					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAAGCCATTCGGAGAGTAAA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.0					ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(421-423)tCg>tTg		HMG box domain containing 4							54.0	56.0	55.0					22																	35660803		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660803C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.422C>T	22.37:g.35660803C>T	ENSP00000216106:p.Ser141Leu					HMGXB4_ENST00000444518.2_Missense_Mutation_p.S32L	p.S141L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	550	+			141					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.422C>T	CCDS33641.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.86	2.958628	0.53400	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.89	5.89	0.94794	.	0.361413	0.29376	N	0.012337	T	0.51261	0.1664	L	0.29908	0.895	0.42916	D	0.994273	D	0.61080	0.989	P	0.51516	0.672	T	0.53330	-0.8454	10	0.72032	D	0.01	-2.3941	20.2562	0.98421	0.0:1.0:0.0:0.0	.	141	Q9UGU5	HMGX4_HUMAN	L	32;32;32;141	ENSP00000401658:S32L;ENSP00000398302:S32L;ENSP00000415500:S32L;ENSP00000216106:S141L	ENSP00000216106:S141L	S	+	2	0	HMGXB4	33990803	0.985000	0.35326	0.331000	0.25455	0.864000	0.49448	3.533000	0.53561	2.797000	0.96272	0.563000	0.77884	TCG		0.502	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		27	38	0	0	0	1	0	27	38				
ZKSCAN5	23660	broad.mit.edu	37	7	99110082	99110082	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:99110082G>A	ENST00000394170.2	+	3	672	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A141T|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A141T	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTAGATTGTTGCCTGCCCTGA	0.522																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(421-423)Gcc>Acc		zinc finger with KRAB and SCAN domains 5							263.0	220.0	235.0					7																	99110082		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99110082G>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.421G>A	7.37:g.99110082G>A	ENSP00000377725:p.Ala141Thr					ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A141T|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A141T	p.A141T	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			3	672	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		141					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.421G>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	5.663	0.306975	0.10733	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.05199	3.48;3.48;3.48	4.95	3.12	0.35913	Transcription regulator SCAN (1);	0.744678	0.11913	N	0.517444	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.46498	-0.9187	10	0.22109	T	0.4	.	7.1579	0.25647	0.2051:0.0:0.7949:0.0	.	141;141	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	T	141	ENSP00000322872:A141T;ENSP00000392104:A141T;ENSP00000377725:A141T	ENSP00000322872:A141T	A	+	1	0	ZKSCAN5	98948018	0.852000	0.29690	0.033000	0.17914	0.139000	0.21198	1.090000	0.30902	0.798000	0.33994	0.650000	0.86243	GCC		0.522	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		35	50	0	0	0	1	0	35	50				
MYO6	4646	broad.mit.edu	37	6	76568665	76568665	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:76568665C>T	ENST00000369977.3	+	14	1567	c.1428C>T	c.(1426-1428)tgC>tgT	p.C476C	MYO6_ENST00000369981.3_Silent_p.C476C|MYO6_ENST00000369975.1_Silent_p.C476C|MYO6_ENST00000369985.4_Silent_p.C476C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	476	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TCAACTATTGCAATGAAAAAC	0.264																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1426-1428)tgC>tgT		myosin VI							46.0	46.0	46.0					6																	76568665		2201	4289	6490	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76568665C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1428C>T	6.37:g.76568665C>T						MYO6_ENST00000369975.1_Silent_p.C476C|MYO6_ENST00000369985.4_Silent_p.C476C|MYO6_ENST00000369977.3_Silent_p.C476C	p.C476C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	14	1707	+		all_hematologic(105;0.189)	476			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.1428C>T	CCDS34487.1																																																																																				0.264	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		5	33	0	0	0	1	0	5	33				
RGL1	23179	broad.mit.edu	37	1	183861295	183861295	+	Splice_Site	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:183861295G>T	ENST00000360851.3	+	9	1318	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	RGL1_ENST00000539189.1_Splice_Site_p.K380N|RGL1_ENST00000304685.4_Splice_Site_p.K415N|RGL1_ENST00000536277.1_Splice_Site_p.K378N			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	380	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TACTGATGAAGGTGAGGCTCT	0.433																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.e10+1		ral guanine nucleotide dissociation stimulator-like 1							77.0	72.0	74.0					1																	183861295		2203	4299	6502	SO:0001630	splice_region_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183861295G>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1140+1G>T	1.37:g.183861295G>T						RGL1_ENST00000360851.3_Splice_Site_p.K380_splice|RGL1_ENST00000539189.1_Splice_Site_p.K380_splice|RGL1_ENST00000536277.1_Splice_Site_p.K378_splice|RGL1_ENST00000367531.1_Splice_Site_p.K415_splice	p.K415_splice	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			10	1706	+			380			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Splice_Site	SNP	ENST00000360851.3	37	c.1245_splice		.	.	.	.	.	.	.	.	.	.	G	35	5.419925	0.96111	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.52295	0.67;0.67;0.69;0.69;1.71	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.180500	0.50627	D	0.000114	T	0.66713	0.2817	M	0.70595	2.14	0.80722	D	1	P;D;P;P;D	0.63046	0.944;0.992;0.749;0.922;0.992	P;P;B;P;P	0.61070	0.714;0.883;0.373;0.636;0.812	T	0.70208	-0.4935	10	0.66056	D	0.02	.	18.8536	0.92242	0.0:0.0:1.0:0.0	.	380;378;185;380;415	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	N	415;415;378;185;380;380	ENSP00000303192:K415N;ENSP00000356501:K415N;ENSP00000438662:K378N;ENSP00000354097:K380N;ENSP00000437355:K380N	ENSP00000303192:K415N	K	+	3	2	RGL1	182127918	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.487000	0.97945	2.431000	0.82371	0.563000	0.77884	AAG		0.433	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	Missense_Mutation	5	30	1	0	2.7689e-08	1	2.91998e-08	5	30				
RP1-274L7.1	0	broad.mit.edu	37	X	129629816	129629816	+	lincRNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129629816G>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AAGCCCTGCAGATGTGCACAG	0.537																																						ENST00000458525.1																			0																				186.0	141.0	156.0					X																	129629816		2203	4300	6503			0							g.chrX:129629816G>T																													X.37:g.129629816G>T						FAM45B_ENST00000592932.1_RNA								0	1015	-									RNA	SNP	ENST00000458525.1	37																																																																																						0.537	RP1-274L7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058271.1			16	31	1	0	1.67942e-08	1	1.77343e-08	16	31				
PTN	5764	broad.mit.edu	37	7	136939648	136939648	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:136939648C>T	ENST00000348225.2	-	2	500	c.73G>A	c.(73-75)Gca>Aca	p.A25T	PTN_ENST00000393083.2_Missense_Mutation_p.A25T	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	25					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCCACAGCTGCCAGTATGAAA	0.443																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(73-75)Gca>Aca		pleiotrophin							80.0	79.0	79.0					7																	136939648		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136939648C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.73G>A	7.37:g.136939648C>T	ENSP00000341170:p.Ala25Thr					PTN_ENST00000393083.2_Missense_Mutation_p.A25T	p.A25T	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			2	500	-			25					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.73G>A	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732146	0.69189	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.36	5.36	0.76844	.	0.437392	0.27393	N	0.019577	T	0.53400	0.1794	N	0.08118	0	0.43462	D	0.995666	D;D	0.63880	0.993;0.98	D;P	0.70935	0.971;0.811	T	0.58601	-0.7608	9	0.34782	T	0.22	-8.9768	17.2654	0.87085	0.0:1.0:0.0:0.0	.	25;25	C9JR52;P21246	.;PTN_HUMAN	T	25	.	ENSP00000341170:A25T	A	-	1	0	PTN	136590188	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.167000	0.50793	2.487000	0.83934	0.650000	0.86243	GCA		0.443	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		24	55	0	0	0	1	0	24	55				
SAMD4A	23034	broad.mit.edu	37	14	55236928	55236928	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:55236928G>A	ENST00000554335.1	+	9	2366	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SAMD4A_ENST00000392067.3_Missense_Mutation_p.R568Q|SAMD4A_ENST00000555192.1_Missense_Mutation_p.R159Q|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R480Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R567Q			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	568					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCAGGATATCGACAGCAAAGA	0.468																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1438-1440)cGa>cAa		sterile alpha motif domain containing 4A							150.0	146.0	147.0					14																	55236928		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55236928G>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1703G>A	14.37:g.55236928G>A	ENSP00000452535:p.Arg568Gln					SAMD4A_ENST00000555192.1_Missense_Mutation_p.R159Q|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R568Q|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R567Q|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R568Q	p.R480Q	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			7	1744	+			568					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1439G>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	35	5.440158	0.96168	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.42	5.42	0.78866	.	0.075963	0.53938	D	0.000042	T	0.79470	0.4451	M	0.71036	2.16	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.81914	0.987;0.995;0.638	T	0.81097	-0.1087	9	0.72032	D	0.01	-19.8228	19.2111	0.93755	0.0:0.0:1.0:0.0	.	159;480;568	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Q	568;568;480;479;567;159	.	ENSP00000251091:R197Q	R	+	2	0	SAMD4A	54306678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.551000	0.86045	0.462000	0.41574	CGA		0.468	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		5	110	0	0	0	1	0	5	110				
WDR54	84058	broad.mit.edu	37	2	74653438	74653438	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:74653438G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Nonsense_Mutation_p.R492*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.R542*|RTKN_ENST00000305557.5_Nonsense_Mutation_p.R529*	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CGTGGGGATCGCTGAGGTGGG	0.652																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1585-1587)Cga>Tga		rhotekin							71.0	83.0	79.0					2																	74653438		2201	4299	6500	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653438G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653438G>A						RTKN_ENST00000272430.5_Nonsense_Mutation_p.R542*|RTKN_ENST00000233330.6_Nonsense_Mutation_p.R492*	p.R529*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2170	-			542			Pro-rich.		D6W5I3|Q53H85|Q86V45	Nonsense_Mutation	SNP	ENST00000348227.4	37	c.1585C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615894	0.98390	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	.	.	.	5.3	3.44	0.39384	.	0.611433	0.16025	N	0.233108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.6997	0.45920	0.0:0.0:0.6556:0.3444	.	.	.	.	X	529;542;492	.	ENSP00000233330:R492X	R	-	1	2	RTKN	74506946	0.661000	0.27430	0.805000	0.32314	0.523000	0.34469	1.782000	0.38654	0.746000	0.32786	0.655000	0.94253	CGA		0.652	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		31	55	0	0	0	1	0	31	55				
NPC1L1	29881	broad.mit.edu	37	7	44575866	44575866	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44575866A>G	ENST00000289547.4	-	4	1898	c.1843T>C	c.(1843-1845)Ttc>Ctc	p.F615L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.F615L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F615L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F615L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	615					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCAGCCATGAACGTGACCTGG	0.652																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1843-1845)Ttc>Ctc		NPC1-like 1	Ezetimibe(DB00973)						77.0	74.0	75.0					7																	44575866		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575866A>G		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1843T>C	7.37:g.44575866A>G	ENSP00000289547:p.Phe615Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.F615L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.F615L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F615L	p.F615L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1898	-			615					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1843T>C	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.288156	0.80803	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-1.89	4.11	4.11	0.48088	.	0.068087	0.64402	D	0.000010	D	0.93044	0.7786	M	0.89534	3.04	0.37952	D	0.932687	P;D;P;D	0.56287	0.948;0.975;0.865;0.967	P;P;P;B	0.49953	0.573;0.627;0.542;0.387	D	0.93844	0.7139	10	0.52906	T	0.07	-32.7613	9.4878	0.38940	1.0:0.0:0.0:0.0	.	615;615;615;615	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	615	ENSP00000289547:F615L;ENSP00000370552:F615L;ENSP00000438033:F615L;ENSP00000404670:F615L	ENSP00000289547:F615L	F	-	1	0	NPC1L1	44542391	1.000000	0.71417	0.961000	0.40146	0.788000	0.44548	7.090000	0.76916	1.478000	0.48253	0.248000	0.18094	TTC		0.652	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		8	43	0	0	0	1	0	8	43				
LCA5	167691	broad.mit.edu	37	6	80223162	80223162	+	Missense_Mutation	SNP	G	G	A	rs568193819		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:80223162G>A	ENST00000392959.1	-	4	1098	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LCA5_ENST00000467898.3_Missense_Mutation_p.R163C|LCA5_ENST00000369846.4_Missense_Mutation_p.R163C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	163					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTGTTATGACGAAATATAAGT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.0		0.0	False		,,,				2504	0.001					ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(487-489)Cgt>Tgt		Leber congenital amaurosis 5							130.0	124.0	126.0					6																	80223162		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223162G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.487C>T	6.37:g.80223162G>A	ENSP00000376686:p.Arg163Cys					LCA5_ENST00000369846.4_Missense_Mutation_p.R163C|LCA5_ENST00000467898.2_Missense_Mutation_p.R163C	p.R163C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1098	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	163					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.487C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590687	0.66219	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.78595	-1.19;-1.19	6.07	4.13	0.48395	.	0.123452	0.56097	N	0.000031	T	0.82089	0.4961	M	0.68593	2.085	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.78314	0.949;0.991	D	0.84749	0.0755	10	0.87932	D	0	-4.0473	11.9233	0.52803	0.0701:0.0:0.7992:0.1306	.	163;163	B4DRL2;Q86VQ0	.;LCA5_HUMAN	C	163	ENSP00000358861:R163C;ENSP00000376686:R163C	ENSP00000358861:R163C	R	-	1	0	LCA5	80279881	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	4.844000	0.62846	1.571000	0.49722	0.655000	0.94253	CGT		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		5	91	0	0	0	1	0	5	91				
KCNA3	3738	broad.mit.edu	37	1	111216459	111216459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:111216459G>A	ENST00000369769.2	-	1	1196	c.973C>T	c.(973-975)Cga>Tga	p.R325*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	325					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R325*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	ATGATGTTTCGCGAGAAGGTG	0.532																																						ENST00000369769.2																			1	Substitution - Nonsense(1)	p.R325*(1)	endometrium(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(973-975)Cga>Tga		potassium voltage-gated channel, shaker-related subfamily, member 3							87.0	85.0	86.0					1																	111216459		2203	4300	6503	SO:0001587	stop_gained	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216459G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.973C>T	1.37:g.111216459G>A	ENSP00000358784:p.Arg325*						p.R325*	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1196	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	325					Q5VWN2	Nonsense_Mutation	SNP	ENST00000369769.2	37	c.973C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	37	6.324548	0.97476	.	.	ENSG00000177272	ENST00000369769	.	.	.	5.26	1.94	0.25998	.	0.064498	0.56097	U	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.259	0.73606	0.0:0.0:0.2539:0.7461	.	.	.	.	X	325	.	ENSP00000358784:R325X	R	-	1	2	KCNA3	111017982	1.000000	0.71417	0.585000	0.28666	0.998000	0.95712	1.677000	0.37576	0.060000	0.16281	0.655000	0.94253	CGA		0.532	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		11	47	0	0	0	1	0	11	47				
ZNF365	22891	broad.mit.edu	37	10	64415277	64415277	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:64415277T>C	ENST00000395251.1	+	4	611	c.277T>C	c.(277-279)Tcc>Ccc	p.S93P	AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	93										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCATCAGCATCCCCCTGGCC	0.542																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(277-279)Tcc>Ccc		zinc finger protein 365							146.0	114.0	125.0					10																	64415277		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415277T>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.277T>C	10.37:g.64415277T>C	ENSP00000378672:p.Ser93Pro					ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	p.S93P	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			4	611	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		93						Missense_Mutation	SNP	ENST00000395251.1	37	c.277T>C	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639316	0.29157	.	.	ENSG00000138311	ENST00000395251	T	0.54866	0.55	4.48	1.81	0.25067	.	.	.	.	.	T	0.29783	0.0744	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	9	0.87932	D	0	.	5.922	0.19088	0.0:0.2749:0.0:0.7251	.	93	Q70YC4	TALAN_HUMAN	P	93	ENSP00000378672:S93P	ENSP00000378672:S93P	S	+	1	0	ZNF365	64085283	0.000000	0.05858	0.005000	0.12908	0.134000	0.20937	-0.589000	0.05767	0.098000	0.17522	0.533000	0.62120	TCC		0.542	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		24	24	0	0	0	1	0	24	24				
AHNAK2	113146	broad.mit.edu	37	14	105413601	105413601	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105413601C>T	ENST00000333244.5	-	7	8306	c.8187G>A	c.(8185-8187)ggG>ggA	p.G2729G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2729						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCAGGTGCCCTTTGAGGC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8185-8187)ggG>ggA		AHNAK nucleoprotein 2							124.0	136.0	132.0					14																	105413601		1861	4097	5958	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413601C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8187G>A	14.37:g.105413601C>T						AHNAK2_ENST00000557457.1_Intron	p.G2729G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8306	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2729					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8187G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		90	109	0	0	0	1	0	90	109				
HERC2	8924	broad.mit.edu	37	15	28414705	28414705	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28414705A>G	ENST00000261609.7	-	66	10262	c.10154T>C	c.(10153-10155)tTg>tCg	p.L3385S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCCAATGACAAGAGAATCTT	0.418																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10153-10155)tTg>tCg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							89.0	85.0	86.0					15																	28414705		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28414705A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10154T>C	15.37:g.28414705A>G	ENSP00000261609:p.Leu3385Ser						p.L3385S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	66	10262	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3385						Missense_Mutation	SNP	ENST00000261609.7	37	c.10154T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334860	0.81801	.	.	ENSG00000128731	ENST00000261609	T	0.58210	0.35	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.71762	0.3378	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74191	-0.3745	10	0.59425	D	0.04	.	16.1482	0.81586	1.0:0.0:0.0:0.0	.	3385	O95714	HERC2_HUMAN	S	3385	ENSP00000261609:L3385S	ENSP00000261609:L3385S	L	-	2	0	HERC2	26088300	1.000000	0.71417	0.376000	0.26042	0.831000	0.47069	9.029000	0.93718	2.272000	0.75746	0.523000	0.50628	TTG		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		24	38	0	0	0	1	0	24	38				
HOXC12	3228	broad.mit.edu	37	12	54350229	54350229	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:54350229G>A	ENST00000243103.3	+	2	824	c.728G>A	c.(727-729)cGc>cAc	p.R243H	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	243					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACACGCCAGCGCCGGAGGGAA	0.522																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(727-729)cGc>cAc		homeobox C12							103.0	110.0	107.0					12																	54350229		2203	4300	6503	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54350229G>A	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.728G>A	12.37:g.54350229G>A	ENSP00000243103:p.Arg243His						p.R243H	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			2	824	+			243					Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.728G>A	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513584	0.85389	.	.	ENSG00000123407	ENST00000243103	D	0.96168	-3.93	4.2	4.2	0.49525	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000012	D	0.97873	0.9301	M	0.89163	3.01	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.98994	1.0809	10	0.87932	D	0	.	15.6972	0.77509	0.0:0.0:1.0:0.0	.	243	P31275	HXC12_HUMAN	H	243	ENSP00000243103:R243H	ENSP00000243103:R243H	R	+	2	0	HOXC12	52636496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.591000	0.67536	2.052000	0.61016	0.462000	0.41574	CGC		0.522	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		35	43	0	0	0	1	0	35	43				
RBM12	10137	broad.mit.edu	37	20	34243008	34243008	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:34243008C>T	ENST00000374114.3	-	3	500	c.237G>A	c.(235-237)atG>atA	p.M79I	CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Missense_Mutation_p.M79I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M79I|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	79						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCATATTCTGCATTTCCGTCT	0.428											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(235-237)atG>atA		RNA binding motif protein 12							181.0	162.0	169.0					20																	34243008		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34243008C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.237G>A	20.37:g.34243008C>T	ENSP00000363228:p.Met79Ile		OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	846	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M79I|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.M79I|CPNE1_ENST00000397445.1_Intron	p.M79I	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	500	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		79					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.237G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793590	0.50102	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.28069	1.67;1.67;1.67;1.63;2.03;2.06	5.45	5.45	0.79879	.	0.049226	0.85682	N	0.000000	T	0.45637	0.1352	L	0.32530	0.975	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.35992	-0.9766	10	0.72032	D	0.01	-7.3943	19.4929	0.95059	0.0:1.0:0.0:0.0	.	79	Q9NTZ6	RBM12_HUMAN	I	79	ENSP00000363228:M79I;ENSP00000352668:M79I;ENSP00000363217:M79I;ENSP00000411036:M79I;ENSP00000392642:M79I;ENSP00000411692:M79I	ENSP00000352668:M79I	M	-	3	0	RBM12	33706422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.835000	0.97688	0.650000	0.86243	ATG		0.428	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		26	43	0	0	0	1	0	26	43				
YME1L1	10730	broad.mit.edu	37	10	27423040	27423040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27423040G>A	ENST00000326799.3	-	8	1022	c.874C>T	c.(874-876)Cga>Tga	p.R292*	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.R202*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R235*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	292					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGACGGGTTCGCCTTAGGGAA	0.323																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(874-876)Cga>Tga		YME1-like 1 ATPase							39.0	43.0	42.0					10																	27423040		2203	4300	6503	SO:0001587	stop_gained	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27423040G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.874C>T	10.37:g.27423040G>A	ENSP00000318480:p.Arg292*					YME1L1_ENST00000375972.3_Nonsense_Mutation_p.R202*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R235*|YME1L1_ENST00000463270.1_5'UTR	p.R292*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			8	1022	-			292					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Nonsense_Mutation	SNP	ENST00000326799.3	37	c.874C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145761	0.77888	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324;ENST00000396296	.	.	.	5.25	2.23	0.28157	.	0.049283	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-11.6733	8.694	0.34284	0.0729:0.0:0.4252:0.502	.	.	.	.	X	235;292;292;202;38;202;227	.	ENSP00000318480:R292X	R	-	1	2	YME1L1	27463046	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	2.919000	0.48836	0.602000	0.29896	-0.350000	0.07774	CGA		0.323	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		16	15	0	0	0	1	0	16	15				
CYTIP	9595	broad.mit.edu	37	2	158290895	158290895	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:158290895C>T	ENST00000264192.3	-	3	387	c.266G>A	c.(265-267)gGa>gAa	p.G89E	CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	89	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AATTTCAAATCCAAATGTTTC	0.338																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(265-267)gGa>gAa		cytohesin 1 interacting protein							97.0	108.0	104.0					2																	158290895		2202	4300	6502	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158290895C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.266G>A	2.37:g.158290895C>T	ENSP00000264192:p.Gly89Glu					CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR	p.G89E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			3	387	-			89			PDZ.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.266G>A	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171747	0.78452	.	.	ENSG00000115165	ENST00000264192;ENST00000439355	T;T	0.77620	-1.11;-0.81	5.92	5.04	0.67666	PDZ/DHR/GLGF (4);	0.098719	0.64402	D	0.000001	D	0.86159	0.5866	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87451	0.2401	10	0.87932	D	0	-15.297	13.1004	0.59216	0.0:0.8391:0.1609:0.0	.	89	O60759	CYTIP_HUMAN	E	89;54	ENSP00000264192:G89E;ENSP00000402771:G54E	ENSP00000264192:G89E	G	-	2	0	CYTIP	157999141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.556000	0.67307	1.502000	0.48669	0.638000	0.83543	GGA		0.338	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		16	31	0	0	0	1	0	16	31				
COX15	1355	broad.mit.edu	37	10	101486888	101486888	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101486888G>A	ENST00000016171.5	-	4	469	c.419C>T	c.(418-420)aCa>aTa	p.T140I	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.T140I			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	140					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CTTGAATTCTGTCAGTGTCAT	0.433																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(418-420)aCa>aTa		cytochrome c oxidase assembly homolog 15 (yeast)							88.0	78.0	81.0					10																	101486888		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101486888G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.419C>T	10.37:g.101486888G>A	ENSP00000016171:p.Thr140Ile					CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.T140I	p.T140I	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	4	469	-		Colorectal(252;0.234)	140					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.419C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531722	0.45073	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.8	4.8	0.61643	.	0.301618	0.36268	N	0.002697	T	0.56659	0.2000	L	0.46157	1.445	0.36687	D	0.879386	B;B	0.19445	0.036;0.001	B;B	0.24848	0.056;0.021	T	0.61850	-0.6978	9	0.52906	T	0.07	-3.7185	13.4024	0.60891	0.0:0.0:0.8429:0.1571	.	140;140	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	I	140	.	ENSP00000016171:T140I	T	-	2	0	COX15	101476878	1.000000	0.71417	0.920000	0.36463	0.801000	0.45260	5.017000	0.64047	2.655000	0.90218	0.655000	0.94253	ACA		0.433	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		7	23	0	0	0	1	0	7	23				
GOLGA4	2803	broad.mit.edu	37	3	37367742	37367742	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:37367742G>T	ENST00000361924.2	+	14	4739	c.4365G>T	c.(4363-4365)caG>caT	p.Q1455H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1477H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1455	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATTTACACAGCATCAAAACA	0.363																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4363-4365)caG>caT		golgin A4							78.0	84.0	82.0					3																	37367742		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367742G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4365G>T	3.37:g.37367742G>T	ENSP00000354486:p.Gln1455His					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1477H	p.Q1455H	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4739	+			1455			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4365G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328554	0.41197	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.56444	0.49;0.46;0.51	5.24	0.445	0.16597	.	0.000000	0.34435	N	0.003963	T	0.68201	0.2975	M	0.77103	2.36	0.33954	D	0.644764	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.73956	-0.3819	10	0.59425	D	0.04	.	10.3339	0.43839	0.426:0.0:0.5739:0.0	.	1455;1455;1477;1455	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	H	1455;1477;1326	ENSP00000354486:Q1455H;ENSP00000349305:Q1477H;ENSP00000405842:Q1326H	ENSP00000349305:Q1477H	Q	+	3	2	GOLGA4	37342746	1.000000	0.71417	0.159000	0.22649	0.889000	0.51656	0.838000	0.27572	-0.215000	0.10063	-0.262000	0.10625	CAG		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		20	46	1	0	3.51602e-12	1	3.7986e-12	20	46				
A4GALT	53947	broad.mit.edu	37	22	43089480	43089480	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43089480C>T	ENST00000401850.1	-	2	967	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Missense_Mutation_p.A160T|A4GALT_ENST00000381278.3_Missense_Mutation_p.A160T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	160					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGCACGGCCGCGTACCAGTCG	0.662																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(478-480)Gcg>Acg		alpha 1,4-galactosyltransferase							40.0	44.0	43.0					22																	43089480		2203	4299	6502	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089480C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.478G>A	22.37:g.43089480C>T	ENSP00000384794:p.Ala160Thr					A4GALT_ENST00000249005.2_Missense_Mutation_p.A160T|A4GALT_ENST00000381278.3_Missense_Mutation_p.A160T	p.A160T			Q9NPC4	A4GAT_HUMAN			2	967	-			160					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.478G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	1.513	-0.549010	0.04024	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.80033	-1.33;-1.33;-1.33	5.29	-2.48	0.06423	Glycosyltransferase, DXD sugar-binding motif (1);	0.778718	0.11009	N	0.609705	T	0.54287	0.1849	N	0.12961	0.28	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.38067	-0.9678	10	0.12430	T	0.62	-7.4548	1.0441	0.01565	0.3265:0.3023:0.093:0.2781	.	160	Q9NPC4	A4GAT_HUMAN	T	160	ENSP00000384794:A160T;ENSP00000249005:A160T;ENSP00000370678:A160T	ENSP00000249005:A160T	A	-	1	0	A4GALT	41419424	0.000000	0.05858	0.020000	0.16555	0.014000	0.08584	-1.366000	0.02585	-0.275000	0.09219	-0.224000	0.12420	GCG		0.662	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		13	35	0	0	0	1	0	13	35				
MEIS2	4212	broad.mit.edu	37	15	37184601	37184601	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:37184601C>T	ENST00000561208.1	-	12	1625	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A396T|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.A396T|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000424352.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	403	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTGGCTGTGCCATACTCATT	0.502																																						ENST00000338564.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1186-1188)Gca>Aca		Meis homeobox 2							211.0	211.0	211.0					15																	37184601		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37184601C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1207G>A	15.37:g.37184601C>T	ENSP00000453793:p.Ala403Thr					MEIS2_ENST00000382766.2_Missense_Mutation_p.A396T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A403T|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR	p.A396T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	13	1632	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	403					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1186G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465637	0.26335	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87103	-2.21;-2.21	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.13594	0.001;0.001;0.0;0.008	B;B;B;B	0.13407	0.002;0.001;0.001;0.009	T	0.72953	-0.4135	10	0.44086	T	0.13	-6.4009	11.5168	0.50526	0.0:0.863:0.0:0.137	.	396;403;383;99	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	T	403;396;396	ENSP00000341400:A396T;ENSP00000372216:A396T	ENSP00000326296:A403T	A	-	1	0	MEIS2	34971893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.194000	0.51005	2.705000	0.92388	0.655000	0.94253	GCA		0.502	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		8	155	0	0	0	1	0	8	155				
NUCB1	4924	broad.mit.edu	37	19	49416276	49416276	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49416276G>A	ENST00000405315.4	+	6	823	c.489G>A	c.(487-489)cgG>cgA	p.R163R	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.R163R|NUCB1_ENST00000407032.1_Silent_p.R163R|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	163						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGCCACCCGGGACCTTGCCC	0.607																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(487-489)cgG>cgA		nucleobindin 1							87.0	76.0	79.0					19																	49416276		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49416276G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.489G>A	19.37:g.49416276G>A						NUCB1_ENST00000407032.1_Silent_p.R163R|NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Silent_p.R163R	p.R163R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	6	823	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	163					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.489G>A	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	9.143	1.014245	0.19277	.	.	ENSG00000104805	ENST00000424608	.	.	.	5.07	-1.23	0.09465	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	.	1.2391	0.01959	0.161:0.2678:0.297:0.2743	.	.	.	.	E	133	.	.	G	+	2	0	NUCB1	54108088	0.946000	0.32159	0.994000	0.49952	0.818000	0.46254	-0.011000	0.12721	-0.249000	0.09569	-0.346000	0.07831	GGG		0.607	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		8	22	0	0	0	1	0	8	22				
MTOR	2475	broad.mit.edu	37	1	11269467	11269467	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:11269467G>A	ENST00000361445.4	-	25	3779	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1235					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTAAGCATCCGATGCTGGTAA	0.473																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(3703-3705)Cgg>Tgg		mechanistic target of rapamycin (serine/threonine kinase)							259.0	247.0	251.0					1																	11269467		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11269467G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3703C>T	1.37:g.11269467G>A	ENSP00000354558:p.Arg1235Trp						p.R1235W	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			25	3779	-			1235					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.3703C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543540	0.65198	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65732	-0.17	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.50617	0.646	T	0.64795	-0.6323	10	0.51188	T	0.08	.	14.7955	0.69873	0.0:0.0:0.8558:0.1441	.	1235	P42345	MTOR_HUMAN	W	1235	ENSP00000354558:R1235W	ENSP00000354558:R1235W	R	-	1	2	MTOR	11192054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.123000	0.71614	2.733000	0.93635	0.561000	0.74099	CGG		0.473	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		68	93	0	0	0	1	0	68	93				
DHRSX	207063	broad.mit.edu	37	X	2184850	2184850	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:2184850G>A	ENST00000334651.5	-	5	579	c.527C>T	c.(526-528)gCg>gTg	p.A176V	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	176							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACCACCCTCGCACTGTGGCC	0.542																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(526-528)gCg>gTg		dehydrogenase/reductase (SDR family) X-linked							381.0	338.0	353.0					X																	2184850		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184850G>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.527C>T	X.37:g.2184850G>A	ENSP00000334113:p.Ala176Val					DHRSX_ENST00000464935.1_5'UTR	p.A176V	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			5	579	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	176					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.527C>T	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575783	0.45902	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.23950	1.88;1.88;1.88	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.149469	0.45126	U	0.000392	T	0.33147	0.0853	N	0.25789	0.76	0.09310	N	0.999991	D	0.76494	0.999	D	0.65573	0.936	T	0.11348	-1.0591	10	0.87932	D	0	.	12.2461	0.54571	0.0:0.0:1.0:0.0	.	176	Q8N5I4	DHRSX_HUMAN	V	176;153;109	ENSP00000334113:A176V;ENSP00000391778:A153V;ENSP00000402741:A109V	ENSP00000334113:A176V	A	-	2	0	DHRSX	2194850	1.000000	0.71417	0.232000	0.24009	0.329000	0.28539	5.253000	0.65452	0.856000	0.35383	0.272000	0.19324	GCG		0.542	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		51	152	0	0	0	1	0	51	152				
THRA	7067	broad.mit.edu	37	17	38244645	38244645	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:38244645C>A	ENST00000264637.4	+	8	1454	c.874C>A	c.(874-876)Ctg>Atg	p.L292M	THRA_ENST00000546243.1_Missense_Mutation_p.L292M|THRA_ENST00000584985.1_Missense_Mutation_p.L292M|THRA_ENST00000394121.4_Missense_Mutation_p.L292M|THRA_ENST00000450525.2_Missense_Mutation_p.L292M	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	292	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAATGGCGGCCTGGGCGTAGT	0.607																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(874-876)Ctg>Atg		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						100.0	94.0	96.0					17																	38244645		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38244645C>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.874C>A	17.37:g.38244645C>A	ENSP00000264637:p.Leu292Met					THRA_ENST00000584985.1_Missense_Mutation_p.L292M|THRA_ENST00000546243.1_Missense_Mutation_p.L292M|THRA_ENST00000394121.4_Missense_Mutation_p.L292M|THRA_ENST00000264637.4_Missense_Mutation_p.L292M	p.L292M	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			8	1365	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	292			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.874C>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.481459	0.63849	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.97	2.95	0.34219	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	L	0.28192	0.835	0.42787	D	0.993887	D;D;D	0.63880	0.985;0.993;0.985	D;D;P	0.72338	0.961;0.977;0.874	D	0.93236	0.6622	10	0.45353	T	0.12	.	8.2617	0.31788	0.0:0.7309:0.0:0.2691	.	292;292;292	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	M	292	ENSP00000377679:L292M;ENSP00000264637:L292M;ENSP00000395641:L292M;ENSP00000443972:L292M	ENSP00000264637:L292M	L	+	1	2	THRA	35498171	0.592000	0.26832	1.000000	0.80357	0.974000	0.67602	1.273000	0.33121	0.485000	0.27652	0.486000	0.48141	CTG		0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			54	53	1	0	1.11015e-26	1	1.241e-26	54	53				
PTGIS	5740	broad.mit.edu	37	20	48129687	48129687	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:48129687C>T	ENST00000244043.4	-	8	1165	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	379			R -> S (in allele CYP8A1*4; dbSNP:rs56195291). {ECO:0000269|PubMed:11281454}.		apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCGGTCACCACGTCGCAGGTT	0.612																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1135-1137)cGt>cAt		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						106.0	100.0	102.0					20																	48129687		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48129687C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1136G>A	20.37:g.48129687C>T	ENSP00000244043:p.Arg379His					PTGIS_ENST00000478971.1_5'UTR	p.R379H	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	1165	-			379		R -> S (in allele CYP8A1*4; dbSNP:rs56195291).			Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1136G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428888	0.43122	.	.	ENSG00000124212	ENST00000244043	T	0.01313	5.02	4.75	2.53	0.30540	.	0.266512	0.30051	N	0.010529	T	0.02418	0.0074	L	0.43152	1.355	0.22787	N	0.99873	D	0.67145	0.996	P	0.52066	0.689	T	0.45731	-0.9241	10	0.51188	T	0.08	-19.1176	6.2668	0.20932	0.0:0.6531:0.0:0.3469	.	379	Q16647	PTGIS_HUMAN	H	379	ENSP00000244043:R379H	ENSP00000244043:R379H	R	-	2	0	PTGIS	47563094	0.982000	0.34865	0.986000	0.45419	0.993000	0.82548	2.097000	0.41748	1.005000	0.39183	0.561000	0.74099	CGT		0.612	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			19	36	0	0	0	1	0	19	36				
BTD	686	broad.mit.edu	37	3	15686298	15686298	+	Missense_Mutation	SNP	G	G	A	rs377651057		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15686298G>A	ENST00000303498.5	+	4	1044	c.935G>A	c.(934-936)gGc>gAc	p.G312D	BTD_ENST00000449107.1_Missense_Mutation_p.G314D|BTD_ENST00000437172.1_Missense_Mutation_p.G314D|BTD_ENST00000383778.4_Missense_Mutation_p.G292D	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	312	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACAGGAAGTGGCATACACACC	0.478																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18	GRCh37	CM993559	BTD	M		c.(874-876)gGc>gAc		biotinidase		G	ASP/GLY	0,4406		0,0,2203	81.0	75.0	77.0		935	5.8	1.0	3		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	BTD	NM_000060.2	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	312/544	15686298	1,13005	2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686298G>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.935G>A	3.37:g.15686298G>A	ENSP00000306477:p.Gly312Asp					BTD_ENST00000303498.5_Missense_Mutation_p.G312D|BTD_ENST00000449107.1_Missense_Mutation_p.G314D|BTD_ENST00000437172.1_Missense_Mutation_p.G314D	p.G292D			P43251	BTD_HUMAN			4	1233	+			312			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.875G>A	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098577	0.94197	0.0	1.16E-4	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.82	5.82	0.92795	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95648	0.8704	10	0.87932	D	0	-13.8071	20.0852	0.97797	0.0:0.0:1.0:0.0	.	314;314;312	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	D	314;312;314;292	ENSP00000388212:G314D;ENSP00000306477:G312D;ENSP00000400995:G314D;ENSP00000373288:G292D	ENSP00000306477:G312D	G	+	2	0	BTD	15661302	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.790000	0.99075	2.756000	0.94617	0.561000	0.74099	GGC		0.478	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		7	88	0	0	0	1	0	7	88				
GIGYF1	64599	broad.mit.edu	37	7	100282479	100282479	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:100282479G>A	ENST00000275732.5	-	12	2538	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	443					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)					CCTCCTCCAAGGAGCTGTCCT	0.632																																						ENST00000275732.5																			0				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						c.(1327-1329)tcC>tcT		GRB10 interacting GYF protein 1							15.0	16.0	16.0					7																	100282479		2192	4279	6471	SO:0001819	synonymous_variant	64599							g.chr7:100282479G>A	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.1329C>T	7.37:g.100282479G>A						GIGYF1_ENST00000471340.2_5'UTR	p.S443S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			12	2538	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		443					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.1329C>T	CCDS34708.1																																																																																				0.632	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	5	0	0	0	1	0	7	5				
WHSC1	7468	broad.mit.edu	37	4	1918645	1918645	+	Missense_Mutation	SNP	G	G	A	rs372805518		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1918645G>A	ENST00000382895.3	+	6	1239	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	WHSC1_ENST00000382891.5_Missense_Mutation_p.A270T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A270T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A270T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A270T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A270T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A270T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A270T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	270	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTTGGTGACGCCCCAGAAAG	0.418			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(808-810)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	86.0	90.0	89.0		808,808,808,808,808,808	5.2	1.0	4		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	WHSC1	NM_001042424.2,NM_007331.1,NM_133330.2,NM_133331.2,NM_133334.2,NM_133335.3	58,58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	270/1366,270/630,270/1366,270/1366,270/648,270/1366	1918645	1,13005	2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918645G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.808G>A	4.37:g.1918645G>A	ENSP00000372351:p.Ala270Thr					WHSC1_ENST00000382895.3_Missense_Mutation_p.A270T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A270T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A270T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A270T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A270T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A270T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A270T	p.A270T			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1015	+		all_epithelial(65;1.34e-05)	270			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.808G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943425	0.73672	0.0	1.16E-4	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.25	5.25	0.73442	PWWP (3);	0.000000	0.64402	D	0.000020	T	0.67869	0.2939	N	0.12746	0.255	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;P;D	0.78314	0.927;0.991;0.85;0.946	T	0.61486	-0.7053	10	0.08599	T	0.76	.	14.7421	0.69464	0.0:0.0:0.855:0.145	.	270;270;270;270	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	T	270	ENSP00000423972:A270T;ENSP00000421681:A270T;ENSP00000372347:A270T;ENSP00000372348:A270T;ENSP00000399251:A270T;ENSP00000372351:A270T;ENSP00000425761:A270T;ENSP00000422878:A270T;ENSP00000381311:A270T	ENSP00000308780:A270T	A	+	1	0	WHSC1	1888443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.795000	0.62489	2.717000	0.92951	0.655000	0.94253	GCC		0.418	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		5	96	0	0	0	1	0	5	96				
MMS22L	253714	broad.mit.edu	37	6	97613176	97613176	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97613176G>A	ENST00000275053.4	-	21	3432	c.3167C>T	c.(3166-3168)aCa>aTa	p.T1056I	MMS22L_ENST00000369251.2_Missense_Mutation_p.T1016I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1056					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATAGTGGCTGTGTTTCTCAA	0.363																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3166-3168)aCa>aTa		MMS22-like, DNA repair protein							106.0	107.0	106.0					6																	97613176		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613176G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3167C>T	6.37:g.97613176G>A	ENSP00000275053:p.Thr1056Ile					MMS22L_ENST00000369251.2_Missense_Mutation_p.T1016I	p.T1056I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			21	3432	-			1056					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3167C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927676	0.52759	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.25749	4.03;1.78	5.79	5.79	0.91817	.	0.494787	0.22440	N	0.060029	T	0.11665	0.0284	N	0.14661	0.345	0.30443	N	0.775993	B;B	0.30973	0.302;0.302	B;B	0.34779	0.189;0.099	T	0.19451	-1.0305	10	0.62326	D	0.03	-18.5382	20.0371	0.97565	0.0:0.0:1.0:0.0	.	1016;1056	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	1056;1016	ENSP00000275053:T1056I;ENSP00000358254:T1016I	ENSP00000275053:T1056I	T	-	2	0	MMS22L	97719897	0.998000	0.40836	0.954000	0.39281	0.601000	0.36947	4.936000	0.63506	2.734000	0.93682	0.655000	0.94253	ACA		0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		28	32	0	0	0	1	0	28	32				
CCDC171	203238	broad.mit.edu	37	9	15778980	15778980	+	Silent	SNP	G	G	A	rs375214888		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:15778980G>A	ENST00000380701.3	+	20	3241	c.2913G>A	c.(2911-2913)tcG>tcA	p.S971S	CCDC171_ENST00000297641.3_Silent_p.S971S|RNU6-14P_ENST00000384630.1_RNA	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	971																	GCACAGCATCGTTGCAGAAGC	0.368																																						ENST00000380701.3																			0											c.(2911-2913)tcG>tcA		coiled-coil domain containing 171		G		0,4406		0,0,2203	60.0	60.0	60.0		2913	-9.8	0.1	9		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C9orf93	NM_173550.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		971/1327	15778980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15778980G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2913G>A	9.37:g.15778980G>A						CCDC171_ENST00000297641.3_Silent_p.S971S	p.S971S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			20	3241	+			971					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2913G>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128732	0.06753	0.0	1.16E-4	ENSG00000164989	ENST00000449575;ENST00000432954	.	.	.	5.3	-9.82	0.00484	.	.	.	.	.	T	0.15176	0.0366	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.19160	-1.0314	4	.	.	.	-3.2427	2.5144	0.04665	0.1438:0.347:0.3148:0.1944	.	.	.	.	H	211;25	.	.	R	+	2	0	C9orf93	15768980	0.002000	0.14202	0.114000	0.21550	0.613000	0.37349	-2.024000	0.01436	-1.059000	0.03193	-1.271000	0.01417	CGT		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		24	44	0	0	0	1	0	24	44				
LEMD2	221496	broad.mit.edu	37	6	33744944	33744944	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33744944G>A	ENST00000293760.5	-	7	1248	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	LEMD2_ENST00000508327.1_Missense_Mutation_p.A108V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	410					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCATACATGGCTTGTTCCTC	0.498																																						ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1228-1230)gCc>gTc		LEM domain containing 2							219.0	233.0	229.0					6																	33744944		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744944G>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1229C>T	6.37:g.33744944G>A	ENSP00000293760:p.Ala410Val					LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.A108V	p.A410V	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			7	1248	-			410					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1229C>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.279065|4.279065	0.80692|0.80692	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000293760;ENST00000508327|ENST00000442696	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Inner nuclear membrane protein MAN1 (1);|.	0.000000|.	0.56097|.	D|.	0.000022|.	T|T	0.56046|0.56046	0.1959|0.1959	L|L	0.54323|0.54323	1.7|1.7	0.43021|0.43021	D|D	0.994575|0.994575	D;D|.	0.76494|.	0.999;0.995|.	D;D|.	0.79108|.	0.992;0.926|.	T|T	0.53394|0.53394	-0.8445|-0.8445	9|5	0.46703|.	T|.	0.11|.	-5.5741|-5.5741	14.8087|14.8087	0.69977|0.69977	0.0:0.0:0.856:0.144|0.0:0.0:0.856:0.144	.|.	410;371|.	Q8NC56;A8MS91|.	LEMD2_HUMAN;.|.	V|S	410;108|276	.|.	ENSP00000293760:A410V|.	A|P	-|-	2|1	0|0	LEMD2|LEMD2	33852922|33852922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	4.598000|4.598000	0.61069|0.61069	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.498	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		18	270	0	0	0	1	0	18	270				
UGT2B7	7364	broad.mit.edu	37	4	69978269	69978269	+	Missense_Mutation	SNP	C	C	T	rs201354412		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69978269C>T	ENST00000305231.7	+	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	469					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATTTGTCATGCGCCACAAAGG	0.463													c|||	1	0.000199681	0.0	0.0	5008	,	,		16497	0.0		0.0	False		,,,				2504	0.001					ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1405-1407)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B7							142.0	138.0	139.0					4																	69978269		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978269C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1405C>T	4.37:g.69978269C>T	ENSP00000304811:p.Arg469Cys					UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	p.R469C	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			6	1451	+			469					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1405C>T	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735340	0.30774	.	.	ENSG00000171234	ENST00000305231	T	0.72942	-0.7	2.13	2.13	0.27403	.	0.000000	0.64402	U	0.000003	T	0.77772	0.4180	M	0.92122	3.275	0.80722	D	1	P	0.39903	0.694	B	0.43783	0.431	T	0.80498	-0.1356	9	.	.	.	.	9.956	0.41666	0.0:1.0:0.0:0.0	.	469	P16662	UD2B7_HUMAN	C	469	ENSP00000304811:R469C	.	R	+	1	0	UGT2B7	70012858	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	1.949000	0.40313	1.192000	0.43071	0.306000	0.20318	CGC		0.463	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		71	94	0	0	0	1	0	71	94				
CSPG4	1464	broad.mit.edu	37	15	75981312	75981312	+	Silent	SNP	G	G	A	rs200145847		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75981312G>A	ENST00000308508.5	-	3	2186	c.2094C>T	c.(2092-2094)agC>agT	p.S698S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	698	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGAACAGCACGCTCACATCCT	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17668	0.0		0.0	False		,,,				2504	0.0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2092-2094)agC>agT		chondroitin sulfate proteoglycan 4		G		0,4394		0,0,2197	67.0	66.0	66.0		2094	3.5	1.0	15		66	1,8585		0,1,4292	no	coding-synonymous	CSPG4	NM_001897.4		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		698/2323	75981312	1,12979	2197	4293	6490	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981312G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2094C>T	15.37:g.75981312G>A							p.S698S	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2186	-			698			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2094C>T	CCDS10284.1																																																																																				0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		27	37	0	0	0	1	0	27	37				
CTAGE1	64693	broad.mit.edu	37	18	19996934	19996934	+	5'Flank	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:19996934C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.G281*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCAAAGCTCCTTTTGGAGGA	0.343																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(841-843)Gga>Tga		cutaneous T-cell lymphoma-associated antigen 1							75.0	78.0	77.0					18																	19996934		2202	4297	6499	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996934C>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996934C>A	Exception_encountered						p.G281*	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	944	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		281					B0YIZ3	Nonsense_Mutation	SNP	ENST00000525417.1	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061355	0.76187	.	.	ENSG00000212710	ENST00000391403	.	.	.	0.909	-0.134	0.13481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3825	0.07260	0.0:0.6821:0.0:0.3179	.	.	.	.	X	281	.	.	G	-	1	0	CTAGE1	18250932	0.048000	0.20356	0.003000	0.11579	0.406000	0.30931	-1.056000	0.03489	-0.068000	0.12953	0.449000	0.29647	GGA		0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		16	69	1	0	1.3612e-06	1	1.41782e-06	16	69				
AZU1	566	broad.mit.edu	37	19	828253	828253	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:828253G>A	ENST00000233997.2	+	2	103	c.82G>A	c.(82-84)Gtt>Att	p.V28I		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	28	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		TTTGGACATCGTTGGCGGCCG	0.652																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(82-84)Gtt>Att		azurocidin 1							48.0	59.0	55.0					19																	828253		2200	4296	6496	SO:0001583	missense	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:828253G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.82G>A	19.37:g.828253G>A	ENSP00000233997:p.Val28Ile						p.V28I	NM_001700.3	NP_001691.1	P20160	CAP7_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)	2	103	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	28			Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.82G>A	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448487	0.43429	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.93906	-3.31	2.1	1.0	0.19881	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.91908	0.7438	L	0.31845	0.965	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82176	-0.0587	9	0.13108	T	0.6	.	4.7706	0.13153	0.1995:0.0:0.8005:0.0	.	28	P20160	CAP7_HUMAN	I	42;28	ENSP00000233997:V28I	ENSP00000233997:V28I	V	+	1	0	AZU1	779253	0.546000	0.26457	0.036000	0.18154	0.021000	0.10359	0.343000	0.19944	0.207000	0.20607	0.511000	0.50034	GTT		0.652	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		26	45	0	0	0	1	0	26	45				
COA7	65260	broad.mit.edu	37	1	53153624	53153624	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53153624G>A	ENST00000371538.3	-	3	503	c.464C>T	c.(463-465)gCc>gTc	p.A155V	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGGAACATGGCACTGAGGTT	0.547																																						ENST00000371538.3																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(463-465)gCc>gTc		Sel1 repeat containing 1							113.0	100.0	105.0					1																	53153624		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53153624G>A																												ENST00000371538.3:c.464C>T	1.37:g.53153624G>A	ENSP00000360593:p.Ala155Val					SELRC1_ENST00000486918.1_5'UTR	p.A155V	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			3	503	-			155						Missense_Mutation	SNP	ENST00000371538.3	37	c.464C>T	CCDS570.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072712	0.55646	.	.	ENSG00000162377	ENST00000371538	T	0.49432	0.78	5.73	4.82	0.62117	Tetratricopeptide-like helical (1);	0.310233	0.39985	N	0.001216	T	0.29423	0.0733	N	0.13235	0.315	0.37130	D	0.90121	B	0.16802	0.019	B	0.21708	0.036	T	0.19582	-1.0301	10	0.15952	T	0.53	0.2101	11.3675	0.49681	0.156:0.0:0.844:0.0	.	155	Q96BR5	SELR1_HUMAN	V	155	ENSP00000360593:A155V	ENSP00000360593:A155V	A	-	2	0	SELRC1	52926212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.173000	0.50839	1.446000	0.47643	0.549000	0.68633	GCC		0.547	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			16	41	0	0	0	1	0	16	41				
SKA3	221150	broad.mit.edu	37	13	21746495	21746495	+	Missense_Mutation	SNP	C	C	T	rs192149072		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:21746495C>T	ENST00000314759.5	-	3	438	c.314G>A	c.(313-315)cGt>cAt	p.R105H	SKA3_ENST00000400018.3_Missense_Mutation_p.R105H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	105					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTGACACGTGGACTATA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		19379	0.0		0.001	False		,,,				2504	0.0					ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(313-315)cGt>cAt		spindle and kinetochore associated complex subunit 3							75.0	84.0	81.0					13																	21746495		2202	4294	6496	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746495C>T	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.314G>A	13.37:g.21746495C>T	ENSP00000319417:p.Arg105His					SKA3_ENST00000400018.3_Missense_Mutation_p.R105H	p.R105H	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			3	438	-			105					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.314G>A	CCDS31946.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.71	2.616972	0.46736	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23754	1.89;1.89	5.52	2.08	0.27032	.	0.545016	0.21323	N	0.076425	T	0.15565	0.0375	L	0.48362	1.52	0.09310	N	1	P;P	0.41546	0.754;0.754	B;B	0.34242	0.178;0.178	T	0.10590	-1.0623	10	0.30854	T	0.27	-13.0736	4.2228	0.10567	0.0:0.4437:0.3009:0.2554	.	105;105	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	H	105	ENSP00000319417:R105H;ENSP00000382896:R105H	ENSP00000319417:R105H	R	-	2	0	SKA3	20644495	0.031000	0.19500	0.824000	0.32777	0.930000	0.56654	-0.022000	0.12480	1.313000	0.45069	0.591000	0.81541	CGT		0.313	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		31	59	0	0	0	1	0	31	59				
DHX57	90957	broad.mit.edu	37	2	39046072	39046072	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:39046072G>A	ENST00000295373.6	-	19	3544	c.3418C>T	c.(3418-3420)Cgt>Tgt	p.R1140C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1140							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TAACTTGCACGCACGCCTTCT	0.383																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3418-3420)Cgt>Tgt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							104.0	99.0	101.0					2																	39046072		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39046072G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3418C>T	2.37:g.39046072G>A	ENSP00000295373:p.Arg1140Cys						p.R1140C	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			19	3544	-		all_hematologic(82;0.248)	1140					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.3418C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.696984|3.696984	0.68386|0.68386	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373;ENST00000442331	.|T	.|0.02631	.|4.22	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.410282	.|0.21393	.|N	.|0.075275	T|T	0.07683|0.07683	0.0193|0.0193	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.999968|0.999968	.|D;D	.|0.65815	.|0.983;0.995	.|P;P	.|0.48677	.|0.462;0.586	T|T	0.14531|0.14531	-1.0469|-1.0469	5|10	.|0.52906	.|T	.|0.07	.|.	18.8123|18.8123	0.92063|0.92063	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1140;532	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	V|C	463|1140;31	.|ENSP00000295373:R1140C	.|ENSP00000295373:R1140C	A|R	-|-	2|1	0|0	DHX57|DHX57	38899576|38899576	0.996000|0.996000	0.38824|0.38824	0.375000|0.375000	0.26029|0.26029	0.819000|0.819000	0.46315|0.46315	4.538000|4.538000	0.60650|0.60650	2.520000|2.520000	0.84964|0.84964	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.383	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		4	82	0	0	0	1	0	4	82				
ARID5A	10865	broad.mit.edu	37	2	97216922	97216922	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:97216922G>T	ENST00000357485.3	+	7	735	c.657G>T	c.(655-657)caG>caT	p.Q219H	ARID5A_ENST00000454558.2_Missense_Mutation_p.Q151H	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	219					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAGAACAGCAGGGCCTGGCCT	0.592																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(451-453)caG>caT		AT rich interactive domain 5A (MRF1-like)							59.0	66.0	64.0					2																	97216922		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216922G>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.657G>T	2.37:g.97216922G>T	ENSP00000350078:p.Gln219His					ARID5A_ENST00000357485.3_Missense_Mutation_p.Q219H	p.Q151H			Q03989	ARI5A_HUMAN			7	1630	+			219					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.453G>T	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675939	0.29783	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.64260	-0.09	4.63	-7.52	0.01341	.	0.544000	0.13830	N	0.359795	T	0.24198	0.0586	N	0.08118	0	0.09310	N	1	P;P;P	0.48640	0.913;0.511;0.511	B;B;B	0.37601	0.254;0.135;0.135	T	0.50550	-0.8815	10	0.13470	T	0.59	-0.0151	3.9528	0.09377	0.3224:0.1034:0.4706:0.1036	.	219;151;219	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	H	219;219;151	ENSP00000350078:Q219H	ENSP00000350078:Q219H	Q	+	3	2	ARID5A	96580649	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.096000	0.03353	-1.275000	0.02417	-0.258000	0.10820	CAG		0.592	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		24	36	1	0	6.12954e-19	1	6.77144e-19	24	36				
NPY1R	4886	broad.mit.edu	37	4	164247165	164247165	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:164247165T>C	ENST00000296533.2	-	2	1073	c.542A>G	c.(541-543)gAt>gGt	p.D181G	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAACGGCTCATCAGTCATTAC	0.413																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(541-543)gAt>gGt		neuropeptide Y receptor Y1							122.0	112.0	115.0					4																	164247165		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247165T>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.542A>G	4.37:g.164247165T>C	ENSP00000354652:p.Asp181Gly					NPY1R_ENST00000509586.1_Intron	p.D181G	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1073	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	181					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.542A>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946877	0.53186	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	T;T	0.72282	-0.64;0.42	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.87456	2.885	0.80722	D	1	P	0.44309	0.832	P	0.47402	0.546	T	0.81688	-0.0819	10	0.40728	T	0.16	.	16.2262	0.82293	0.0:0.0:0.0:1.0	.	181	P25929	NPY1R_HUMAN	G	181;3	ENSP00000354652:D181G;ENSP00000421618:D3G	ENSP00000354652:D181G	D	-	2	0	NPY1R	164466615	1.000000	0.71417	0.962000	0.40283	0.553000	0.35397	7.180000	0.77674	2.237000	0.73441	0.533000	0.62120	GAT		0.413	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	31	0	0	0	1	0	13	31				
DYNC1H1	1778	broad.mit.edu	37	14	102476656	102476656	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102476656G>A	ENST00000360184.4	+	31	6429	c.6265G>A	c.(6265-6267)Ggt>Agt	p.G2089S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2089	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTATGACTTCGGTCTTCGGGC	0.423																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(6265-6267)Ggt>Agt		dynein, cytoplasmic 1, heavy chain 1							93.0	97.0	96.0					14																	102476656		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476656G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6265G>A	14.37:g.102476656G>A	ENSP00000348965:p.Gly2089Ser						p.G2089S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			31	6429	+			2089			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.6265G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207495	0.95033	.	.	ENSG00000197102	ENST00000360184	T	0.38240	1.15	5.61	4.7	0.59300	.	0.048312	0.85682	D	0.000000	T	0.68504	0.3008	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78033	-0.2362	10	0.87932	D	0	.	16.4317	0.83847	0.0:0.1315:0.8685:0.0	.	2089	Q14204	DYHC1_HUMAN	S	2089	ENSP00000348965:G2089S	ENSP00000348965:G2089S	G	+	1	0	DYNC1H1	101546409	1.000000	0.71417	0.928000	0.36995	0.953000	0.61014	9.807000	0.99171	1.342000	0.45619	0.650000	0.86243	GGT		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		24	52	0	0	0	1	0	24	52				
KMT2D	8085	broad.mit.edu	37	12	49435269	49435269	+	Missense_Mutation	SNP	C	C	T	rs374216845		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49435269C>T	ENST00000301067.7	-	31	6283	c.6284G>A	c.(6283-6285)cGt>cAt	p.R2095H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2095					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCAGTCTTACGGGCTATGTC	0.662																																						ENST00000301067.7																			0											c.(6283-6285)cGt>cAt		lysine (K)-specific methyltransferase 2D		C	HIS/ARG	0,4112		0,0,2056	58.0	65.0	63.0		6284	4.1	1.0	12		63	1,8391		0,1,4195	no	missense	MLL2	NM_003482.3	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	2095/5538	49435269	1,12503	2056	4196	6252	SO:0001583	missense	8085							g.chr12:49435269C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6284G>A	12.37:g.49435269C>T	ENSP00000301067:p.Arg2095His						p.R2095H	NM_003482.3	NP_003473.3					31	6283	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6284G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203688	0.38905	0.0	1.19E-4	ENSG00000167548	ENST00000301067	T	0.80393	-1.37	4.14	4.14	0.48551	.	0.000000	0.32719	N	0.005721	T	0.81621	0.4861	N	0.14661	0.345	0.48135	D	0.999599	D	0.89917	1.0	D	0.85130	0.997	D	0.85204	0.1017	10	0.87932	D	0	.	16.3809	0.83461	0.0:1.0:0.0:0.0	.	2095	O14686	MLL2_HUMAN	H	2095	ENSP00000301067:R2095H	ENSP00000301067:R2095H	R	-	2	0	MLL2	47721536	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	7.049000	0.76613	2.599000	0.87857	0.561000	0.74099	CGT		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			23	41	0	0	0	1	0	23	41				
MAP3K13	9175	broad.mit.edu	37	3	185169094	185169094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:185169094C>T	ENST00000265026.3	+	7	1523	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R253*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R190*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R397*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R253*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R397*(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACCTCGAAACCGACCTTCTTT	0.398																																						ENST00000265026.3																			1	Substitution - Nonsense(1)	p.R397*(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1189-1191)Cga>Tga		mitogen-activated protein kinase kinase kinase 13							132.0	117.0	122.0					3																	185169094		2203	4300	6503	SO:0001587	stop_gained	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169094C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1189C>T	3.37:g.185169094C>T	ENSP00000265026:p.Arg397*					MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R397*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R253*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R190*|MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R253*	p.R397*	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		7	1523	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		397			Protein kinase.			Nonsense_Mutation	SNP	ENST00000265026.3	37	c.1189C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	39	7.790644	0.98492	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.76	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.126	0.72483	0.2586:0.7413:0.0:0.0	.	.	.	.	X	190;397;253;253;397;142	.	ENSP00000265026:R397X	R	+	1	2	MAP3K13	186651788	0.976000	0.34144	0.991000	0.47740	0.993000	0.82548	1.472000	0.35376	0.826000	0.34661	0.655000	0.94253	CGA		0.398	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		25	44	0	0	0	1	0	25	44				
KIAA1324	57535	broad.mit.edu	37	1	109727693	109727693	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:109727693C>T	ENST00000369939.3	+	8	1162	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	327					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGTAACGTGCGCCCAGCTTG	0.493																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(979-981)Cgc>Tgc		KIAA1324							135.0	132.0	133.0					1																	109727693		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109727693C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.979C>T	1.37:g.109727693C>T	ENSP00000358955:p.Arg327Cys					KIAA1324_ENST00000529753.1_Intron	p.R327C	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	8	1162	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	327					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.979C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770837	0.69992	.	.	ENSG00000116299	ENST00000369939;ENST00000457623	T;T	0.51574	0.7;0.7	5.33	5.33	0.75918	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.46741	1.465	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.845	D;D;B	0.69479	0.964;0.961;0.175	T	0.53634	-0.8411	10	0.48119	T	0.1	-1.8268	17.7802	0.88522	0.0:1.0:0.0:0.0	.	327;327;327	Q6UXG2-4;C9J810;Q6UXG2	.;.;K1324_HUMAN	C	327;277	ENSP00000358955:R327C;ENSP00000393964:R277C	ENSP00000358955:R327C	R	+	1	0	KIAA1324	109529216	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	4.914000	0.63348	2.501000	0.84356	0.561000	0.74099	CGC		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		5	123	0	0	0	1	0	5	123				
AQP2	359	broad.mit.edu	37	12	50349238	50349238	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50349238C>T	ENST00000199280.3	+	4	748	c.663C>T	c.(661-663)taC>taT	p.Y221Y	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	221					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCTACAACTACGTGCTGTTTC	0.706																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(661-663)taC>taT		aquaporin 2 (collecting duct)							23.0	25.0	24.0					12																	50349238		2199	4298	6497	SO:0001819	synonymous_variant	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349238C>T		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.663C>T	12.37:g.50349238C>T						RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	p.Y221Y	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			4	748	+			221					Q9UD68	Silent	SNP	ENST00000199280.3	37	c.663C>T	CCDS8792.1																																																																																				0.706	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		10	20	0	0	0	1	0	10	20				
C9orf40	55071	broad.mit.edu	37	9	77563093	77563093	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:77563093G>T	ENST00000376854.5	-	2	730	c.456C>A	c.(454-456)acC>acA	p.T152T		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	152										lung(2)|stomach(1)	3						AGTACTGGAAGGTATTATACT	0.368																																						ENST00000376854.5																			0				lung(2)|stomach(1)	3						c.(454-456)acC>acA		chromosome 9 open reading frame 40							99.0	95.0	96.0					9																	77563093		2203	4300	6503	SO:0001819	synonymous_variant	55071							g.chr9:77563093G>T	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.456C>A	9.37:g.77563093G>T							p.T152T	NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN			2	730	-			152					Q9NWD3	Silent	SNP	ENST00000376854.5	37	c.456C>A	CCDS6648.1																																																																																				0.368	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		25	31	1	0	1.5548e-18	1	1.71633e-18	25	31				
GABRR1	2569	broad.mit.edu	37	6	89907817	89907817	+	Missense_Mutation	SNP	C	C	T	rs201812835		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:89907817C>T	ENST00000454853.2	-	5	604	c.494G>A	c.(493-495)cGc>cAc	p.R165H	GABRR1_ENST00000369451.3_Missense_Mutation_p.R78H|GABRR1_ENST00000435811.1_Missense_Mutation_p.R148H	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	165					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GATGAAGGAGCGTTTGGAGTG	0.517																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(442-444)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						300.0	258.0	272.0					6																	89907817		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89907817C>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.494G>A	6.37:g.89907817C>T	ENSP00000412673:p.Arg165His					GABRR1_ENST00000369451.3_Missense_Mutation_p.R78H|GABRR1_ENST00000454853.2_Missense_Mutation_p.R165H	p.R148H	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	4	897	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	165					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.443G>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	35	5.450683	0.96205	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78003	-1.14;-1.14;-1.14	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.164006	0.50627	D	0.000117	T	0.80513	0.4637	L	0.37897	1.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.969;0.977	T	0.77146	-0.2695	9	.	.	.	-27.6943	20.1237	0.97972	0.0:1.0:0.0:0.0	.	148;165	P24046-2;P24046	.;GBRR1_HUMAN	H	165;148;78;78	ENSP00000412673:R165H;ENSP00000394687:R148H;ENSP00000358463:R78H	.	R	-	2	0	GABRR1	89964536	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.993000	0.70616	2.759000	0.94783	0.561000	0.74099	CGC		0.517	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			75	98	0	0	0	1	0	75	98				
OSBPL5	114879	broad.mit.edu	37	11	3128661	3128661	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:3128661G>A	ENST00000263650.7	-	9	1050	c.891C>T	c.(889-891)aaC>aaT	p.N297N	OSBPL5_ENST00000348039.5_Silent_p.N229N|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.N229N|OSBPL5_ENST00000525498.1_Silent_p.N208N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	297					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGAATGCATCGTTCTCCAGGG	0.607																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(889-891)aaC>aaT		oxysterol binding protein-like 5							148.0	147.0	147.0					11																	3128661		2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128661G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.891C>T	11.37:g.3128661G>A						OSBPL5_ENST00000348039.5_Silent_p.N229N|OSBPL5_ENST00000525498.1_Silent_p.N208N|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.N229N	p.N297N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1050	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	297					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.891C>T	CCDS31344.1																																																																																				0.607	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			50	77	0	0	0	1	0	50	77				
ARHGEF39	84904	broad.mit.edu	37	9	35662261	35662261	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35662261A>G	ENST00000378387.3	-	8	1024	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.S267P|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.V183A|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	303	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGAGGGAAGGACAGCTAGAGA	0.512																																						ENST00000378387.3																			0											c.(907-909)Tcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 39							107.0	93.0	98.0					9																	35662261		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35662261A>G	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.907T>C	9.37:g.35662261A>G	ENSP00000367638:p.Ser303Pro					ARHGEF39_ENST00000343259.3_Missense_Mutation_p.V183A|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.S267P	p.S303P	NM_032818.2	NP_116207.2					8	1024	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.907T>C	CCDS6584.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.994|5.994	0.367379|0.367379	0.11352|0.11352	.|.	.|.	ENSG00000137135|ENSG00000137135	ENST00000378387;ENST00000378395|ENST00000343259	T;T|T	0.41400|0.19250	1.0;1.0|2.16	5.97|5.97	5.97|5.97	0.96955|0.96955	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.21307|0.21307	0.0513|0.0513	L|L	0.50333|0.50333	1.59|1.59	0.22112|0.22112	N|N	0.999355|0.999355	P|.	0.43578|.	0.811|.	B|.	0.43623|.	0.425|.	T|T	0.29701|0.29701	-1.0003|-1.0003	9|7	0.52906|0.02654	T|T	0.07|1	-7.7222|-7.7222	12.8422|12.8422	0.57809|0.57809	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	303|.	Q8N4T4|.	CI100_HUMAN|.	P|A	303;267|183	ENSP00000367638:S303P;ENSP00000367648:S267P|ENSP00000344922:V183A	ENSP00000367638:S303P|ENSP00000344922:V183A	S|V	-|-	1|2	0|0	C9orf100|C9orf100	35652261|35652261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.227000|3.227000	0.51262|0.51262	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.512	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		11	21	0	0	0	1	0	11	21				
CNPY3	10695	broad.mit.edu	37	6	42903398	42903398	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:42903398G>A	ENST00000372836.4	+	3	733	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	121	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GGCAGCAATCGATTTGCCAAG	0.512																																						ENST00000372836.4																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(361-363)cGa>cAa		canopy FGF signaling regulator 3							102.0	94.0	97.0					6																	42903398		2203	4300	6503	SO:0001583	missense	10695				innate immune response	endoplasmic reticulum		g.chr6:42903398G>A	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.362G>A	6.37:g.42903398G>A	ENSP00000361926:p.Arg121Gln					CNPY3_ENST00000394142.3_3'UTR	p.R121Q	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		3	733	+	Colorectal(47;0.196)		121			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	c.362G>A	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501312	0.96371	.	.	ENSG00000137161	ENST00000372836	T	0.37584	1.19	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64179	-0.6468	10	0.59425	D	0.04	-28.241	17.3905	0.87430	0.0:0.0:1.0:0.0	.	121	Q9BT09	CNPY3_HUMAN	Q	121	ENSP00000361926:R121Q	ENSP00000361926:R121Q	R	+	2	0	CNPY3	43011376	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	8.775000	0.91772	2.653000	0.90120	0.561000	0.74099	CGA		0.512	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		22	17	0	0	0	1	0	22	17				
CXorf56	63932	broad.mit.edu	37	X	118676491	118676491	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:118676491C>T	ENST00000371594.4	-	5	568	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000320339.4_Missense_Mutation_p.E115K|CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	164										cervix(1)|endometrium(2)|lung(7)	10						TCTTCCTCTTCATCAATGGTA	0.507																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(343-345)Gaa>Aaa		chromosome X open reading frame 56							226.0	148.0	174.0					X																	118676491		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118676491C>T	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.490G>A	X.37:g.118676491C>T	ENSP00000360652:p.Glu164Lys					CXorf56_ENST00000476164.1_Missense_Mutation_p.E164K|CXorf56_ENST00000486230.1_Missense_Mutation_p.E164K|CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K|CXorf56_ENST00000371594.4_Missense_Mutation_p.E164K|CXorf56_ENST00000469448.1_5'UTR	p.E115K	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			5	614	-			164					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.343G>A	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901967	0.92035	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.62656	-0.6808	10	0.87932	D	0	-22.3354	16.4401	0.83898	0.0:1.0:0.0:0.0	.	150;164	F5GWL7;Q9H5V9	.;CX056_HUMAN	K	164;115;164;150;164	ENSP00000420787:E164K;ENSP00000320345:E115K;ENSP00000360652:E164K;ENSP00000441786:E150K;ENSP00000420635:E164K	ENSP00000320345:E115K	E	-	1	0	CXorf56	118560519	1.000000	0.71417	0.996000	0.52242	0.847000	0.48162	6.936000	0.75892	2.081000	0.62600	0.544000	0.68410	GAA		0.507	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		41	6	0	0	0	1	0	41	6				
LRP1B	53353	broad.mit.edu	37	2	141459810	141459810	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:141459810C>T	ENST00000389484.3	-	39	7173	c.6202G>A	c.(6202-6204)Gac>Aac	p.D2068N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTCAAGGTCGATTCTCTCT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6202-6204)Gac>Aac		low density lipoprotein receptor-related protein 1B							200.0	177.0	185.0					2																	141459810		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459810C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6202G>A	2.37:g.141459810C>T	ENSP00000374135:p.Asp2068Asn	TSP Lung(27;0.18)					p.D2068N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	39	7173	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2068					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6202G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308963	0.60305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93426	-3.22	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.199326	0.42420	U	0.000720	D	0.86606	0.5973	N	0.11000	0.08	0.41095	D	0.985624	B	0.20988	0.05	B	0.14578	0.011	T	0.81604	-0.0857	10	0.20046	T	0.44	.	19.627	0.95680	0.0:1.0:0.0:0.0	.	2068	Q9NZR2	LRP1B_HUMAN	N	2068;2006	ENSP00000374135:D2068N	ENSP00000374135:D2068N	D	-	1	0	LRP1B	141176280	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.565000	0.67365	2.641000	0.89580	0.557000	0.71058	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		33	51	0	0	0	1	0	33	51				
DNMT3B	1789	broad.mit.edu	37	20	31374388	31374388	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:31374388C>T	ENST00000328111.2	+	5	708	c.387C>T	c.(385-387)ggC>ggT	p.G129G	DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000201963.3_Silent_p.G141G|DNMT3B_ENST00000344505.4_Silent_p.G129G|DNMT3B_ENST00000348286.2_Silent_p.G129G|DNMT3B_ENST00000353855.2_Silent_p.G129G|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	129	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCGGCAGGGCCGCAACCATG	0.622																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(385-387)ggC>ggT		DNA (cytosine-5-)-methyltransferase 3 beta							65.0	63.0	63.0					20																	31374388		2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31374388C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.387C>T	20.37:g.31374388C>T						DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Silent_p.G129G|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Silent_p.G129G|DNMT3B_ENST00000201963.3_Silent_p.G141G|DNMT3B_ENST00000348286.2_Silent_p.G129G	p.G129G	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			5	708	+			129			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.387C>T	CCDS13205.1																																																																																				0.622	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		19	20	0	0	0	1	0	19	20				
POSTN	10631	broad.mit.edu	37	13	38154776	38154776	+	Missense_Mutation	SNP	G	G	A	rs145787730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:38154776G>A	ENST00000379747.4	-	11	1568	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	POSTN_ENST00000541179.1_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATGTGAATCGCACCGTTTCT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		17302	0.0		0.001	False		,,,				2504	0.0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1450-1452)gCg>gTg		periostin, osteoblast specific factor		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	302.0	276.0	285.0		1451,1451,1451,1451	4.2	1.0	13	dbSNP_134	285	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense,missense	POSTN	NM_001135934.1,NM_001135935.1,NM_001135936.1,NM_006475.2	64,64,64,64	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	probably-damaging,probably-damaging,probably-damaging,probably-damaging	484/780,484/782,484/752,484/837	38154776	15,12991	2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154776G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1451C>T	13.37:g.38154776G>A	ENSP00000369071:p.Ala484Val					POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000541179.1_Missense_Mutation_p.A484V	p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1568	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	484			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1451C>T	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.05	1.821520	0.32237	0.0	0.001744	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.03	4.18	0.49190	FAS1 domain (6);	0.102181	0.64402	D	0.000003	T	0.80854	0.4703	N	0.17474	0.49	0.41103	D	0.985681	D;D;D;D;D;B;D	0.60160	0.987;0.971;0.986;0.984;0.98;0.334;0.986	P;B;P;B;B;B;P	0.57057	0.535;0.399;0.812;0.399;0.32;0.092;0.812	T	0.77814	-0.2448	10	0.02654	T	1	-11.1047	8.6814	0.34212	0.2244:0.0:0.7756:0.0	.	484;484;484;484;484;484;484	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	V	484	ENSP00000437959:A484V;ENSP00000369073:A484V;ENSP00000369071:A484V;ENSP00000369067:A484V;ENSP00000369066:A484V;ENSP00000437953:A484V	ENSP00000369066:A484V	A	-	2	0	POSTN	37052776	1.000000	0.71417	0.963000	0.40424	0.164000	0.22412	7.015000	0.76387	1.232000	0.43678	0.563000	0.77884	GCG		0.443	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		25	121	0	0	0	1	0	25	121				
DDX58	23586	broad.mit.edu	37	9	32457353	32457353	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32457353T>C	ENST00000379883.2	-	18	2702	c.2545A>G	c.(2545-2547)Aag>Gag	p.K849E	DDX58_ENST00000379868.1_Missense_Mutation_p.K646E|DDX58_ENST00000542096.1_Missense_Mutation_p.K778E|DDX58_ENST00000379882.1_Missense_Mutation_p.K804E	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	849	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGCTTTGGCTTGGGATGTGGT	0.418																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2410-2412)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							82.0	76.0	78.0					9																	32457353		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457353T>C	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2545A>G	9.37:g.32457353T>C	ENSP00000369213:p.Lys849Glu					DDX58_ENST00000379868.1_Missense_Mutation_p.K646E|DDX58_ENST00000542096.1_Missense_Mutation_p.K778E|DDX58_ENST00000379883.2_Missense_Mutation_p.K849E	p.K804E			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2567	-			849			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2410A>G	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277758	0.40294	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	4.65	0.58169	C-terminal domain of RIG-I (1);	0.496707	0.19966	N	0.102108	T	0.47637	0.1456	M	0.74881	2.28	0.80722	D	1	P;P	0.41420	0.749;0.577	B;B	0.40285	0.325;0.183	T	0.43294	-0.9400	10	0.18276	T	0.48	-2.2306	12.3049	0.54895	0.0:0.0:0.1411:0.8589	.	778;849	B3KWW1;O95786	.;DDX58_HUMAN	E	804;849;646;778	ENSP00000369212:K804E;ENSP00000369213:K849E;ENSP00000369197:K646E;ENSP00000442160:K778E	ENSP00000369197:K646E	K	-	1	0	DDX58	32447353	0.972000	0.33761	0.924000	0.36721	0.293000	0.27360	2.450000	0.44943	2.227000	0.72691	0.528000	0.53228	AAG		0.418	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		19	50	0	0	0	1	0	19	50				
VPS13A	23230	broad.mit.edu	37	9	79875065	79875065	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79875065G>A	ENST00000360280.3	+	23	2612	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	VPS13A_ENST00000357409.5_Silent_p.G784G|VPS13A_ENST00000376634.4_Silent_p.G784G|VPS13A_ENST00000376636.3_Silent_p.G784G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	784					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTACAAGGGATTATGGAAT	0.294																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2350-2352)ggG>ggA		vacuolar protein sorting 13 homolog A (S. cerevisiae)							56.0	57.0	56.0					9																	79875065		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79875065G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2352G>A	9.37:g.79875065G>A						VPS13A_ENST00000357409.5_Silent_p.G784G|VPS13A_ENST00000376634.4_Silent_p.G784G|VPS13A_ENST00000376636.3_Silent_p.G784G	p.G784G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			23	2612	+			784					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.2352G>A	CCDS6655.1																																																																																				0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		34	42	0	0	0	1	0	34	42				
NRAP	4892	broad.mit.edu	37	10	115366002	115366002	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115366002A>G	ENST00000359988.3	-	33	3986	c.3742T>C	c.(3742-3744)Tat>Cat	p.Y1248H	NRAP_ENST00000360478.3_Missense_Mutation_p.Y1213H|NRAP_ENST00000369358.4_Missense_Mutation_p.Y1256H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1221H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCATTGTATACTCGTGTCTT	0.443																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3766-3768)Tat>Cat		nebulin-related anchoring protein							149.0	141.0	143.0					10																	115366002		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115366002A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3742T>C	10.37:g.115366002A>G	ENSP00000353078:p.Tyr1248His					NRAP_ENST00000360478.3_Missense_Mutation_p.Y1213H|NRAP_ENST00000359988.3_Missense_Mutation_p.Y1248H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1221H	p.Y1256H			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	4010	-		Colorectal(252;0.0233)|Breast(234;0.188)	1248						Missense_Mutation	SNP	ENST00000359988.3	37	c.3766T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926755	0.73327	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.36878	1.47;1.34;1.27;1.23	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.88105	2.93	0.38388	D	0.945318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75709	-0.3223	10	0.87932	D	0	.	14.4408	0.67314	1.0:0.0:0.0:0.0	.	1248;1213;1248	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	1256;1221;1248;1213	ENSP00000358365:Y1256H;ENSP00000358367:Y1221H;ENSP00000353078:Y1248H;ENSP00000353666:Y1213H	ENSP00000353078:Y1248H	Y	-	1	0	NRAP	115355992	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.073000	0.71245	2.152000	0.67230	0.533000	0.62120	TAT		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		29	50	0	0	0	1	0	29	50				
CSNK1E	1454	broad.mit.edu	37	22	38698877	38698877	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38698877C>T	ENST00000396832.1	-	4	585	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	CSNK1E_ENST00000403904.1_Missense_Mutation_p.A109T|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000400206.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000405675.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000413574.2_Missense_Mutation_p.A109T	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ATCTGGTCGGCCAAGAGCAGC	0.617																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(325-327)Gcc>Acc		casein kinase 1, epsilon							115.0	102.0	106.0					22																	38698877		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38698877C>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.325G>A	22.37:g.38698877C>T	ENSP00000380044:p.Ala109Thr					CSNK1E_ENST00000413574.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000405675.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A109T|CSNK1E_ENST00000400206.2_Missense_Mutation_p.A109T|CSNK1E_ENST00000403904.1_Missense_Mutation_p.A109T	p.A109T	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			4	585	-	Melanoma(58;0.045)		109			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.325G>A	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.418594|5.418594	0.96092|0.96092	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335|ENST00000451964	T;T;T;T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.052693|.	0.85682|.	D|.	0.000000|.	D|.	0.86155|.	0.5865|.	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.986;0.999;1.0|.	P;D;D|.	0.79784|.	0.807;0.977;0.993|.	D|.	0.89717|.	0.3916|.	10|.	0.87932|.	D|.	0|.	.|.	18.0168|18.0168	0.89243|0.89243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	109;109;109|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	T|X	109|46	ENSP00000352929:A109T;ENSP00000380044:A109T;ENSP00000383067:A109T;ENSP00000384074:A109T;ENSP00000407235:A109T;ENSP00000384426:A109T;ENSP00000412335:A109T|.	ENSP00000352929:A109T|.	A|W	-|-	1|3	0|0	CSNK1E|CSNK1E	37028823|37028823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.711000|7.711000	0.84669|0.84669	2.342000|2.342000	0.79632|0.79632	0.462000|0.462000	0.41574|0.41574	GCC|TGG		0.617	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		22	26	0	0	0	1	0	22	26				
ALAS1	211	broad.mit.edu	37	3	52239990	52239990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:52239990C>A	ENST00000394965.2	+	7	1296	c.936C>A	c.(934-936)tgC>tgA	p.C312*	ALAS1_ENST00000484952.1_Nonsense_Mutation_p.C312*|ALAS1_ENST00000310271.2_Nonsense_Mutation_p.C312*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.C312*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	312					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TTTCCTCGTGCTTTGTGGCCA	0.473																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(934-936)tgC>tgA		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						162.0	154.0	157.0					3																	52239990		2203	4300	6503	SO:0001587	stop_gained	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52239990C>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.936C>A	3.37:g.52239990C>A	ENSP00000378416:p.Cys312*					ALAS1_ENST00000310271.2_Nonsense_Mutation_p.C312*|ALAS1_ENST00000484952.1_Nonsense_Mutation_p.C312*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.C312*	p.C312*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	7	1296	+			312						Nonsense_Mutation	SNP	ENST00000394965.2	37	c.936C>A	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	40	8.099881	0.98654	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	.	.	.	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5022	12.564	0.56300	0.0:0.8995:0.0:0.1005	.	.	.	.	X	312	.	ENSP00000309259:C312X	C	+	3	2	ALAS1	52215030	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	0.625000	0.24477	0.571000	0.29365	0.467000	0.42956	TGC		0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			34	45	1	0	6.05902e-23	1	6.74593e-23	34	45				
TMEM200A	114801	broad.mit.edu	37	6	130761877	130761877	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:130761877G>A	ENST00000296978.3	+	3	1181	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	TMEM200A_ENST00000392429.1_Missense_Mutation_p.V104I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V104I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	104						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGAAACTCAGGTCATTCGGAA	0.428																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(310-312)Gtc>Atc		transmembrane protein 200A							106.0	94.0	98.0					6																	130761877		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761877G>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.310G>A	6.37:g.130761877G>A	ENSP00000296978:p.Val104Ile					TMEM200A_ENST00000545622.1_Missense_Mutation_p.V104I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.V104I	p.V104I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2688	+			104					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.310G>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324691	0.24080	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.446316	0.23579	N	0.046664	T	0.09905	0.0243	N	0.19112	0.55	0.24577	N	0.993893	P	0.37914	0.611	B	0.31946	0.138	T	0.06499	-1.0823	9	0.35671	T	0.21	-19.3172	10.8058	0.46516	0.1465:0.0:0.8535:0.0	.	104	Q86VY9	T200A_HUMAN	I	104	.	ENSP00000296978:V104I	V	+	1	0	TMEM200A	130803570	0.988000	0.35896	1.000000	0.80357	0.872000	0.50106	2.988000	0.49386	2.547000	0.85894	0.655000	0.94253	GTC		0.428	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		32	72	0	0	0	1	0	32	72				
CHST4	10164	broad.mit.edu	37	16	71571390	71571390	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71571390C>A	ENST00000338482.5	+	3	1153	c.810C>A	c.(808-810)cgC>cgA	p.R270R	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Silent_p.R270R|CHST4_ENST00000572450.1_Silent_p.R270R|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	270					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCAGGAACGCTACCTGCTTG	0.547											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(808-810)cgC>cgA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							96.0	85.0	89.0					16																	71571390		2198	4300	6498	SO:0001819	synonymous_variant	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571390C>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.810C>A	16.37:g.71571390C>A			OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_ENST00000539698.3_Silent_p.R270R|CHST4_ENST00000572450.1_Silent_p.R270R|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron	p.R270R			Q8NCG5	CHST4_HUMAN			3	1153	+			270					Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.810C>A	CCDS10902.1																																																																																				0.547	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		4	42	1	0	0.014758	1	0.0148771	4	42				
ALPPL2	251	broad.mit.edu	37	2	233271616	233271616	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233271616C>A	ENST00000295453.3	+	1	64	c.12C>A	c.(10-12)ccC>ccA	p.P4P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	4					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCAGGGGCCCTGGGTGCTGC	0.607																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(10-12)ccC>ccA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						72.0	77.0	75.0					2																	233271616		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271616C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.12C>A	2.37:g.233271616C>A							p.P4P	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	64	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	4					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.12C>A	CCDS2491.1																																																																																				0.607	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		18	33	1	0	1.00905e-13	1	1.09755e-13	18	33				
ALG1L2	644974	broad.mit.edu	37	3	129817216	129817216	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:129817216C>T	ENST00000507643.1	+	0	798				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										AACTCCTGGGCCAGAGGCTAA	0.592																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817216C>T	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817216C>T										C9J202	AG1L2_HUMAN			0	798	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.592	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		8	6	0	0	0	1	0	8	6				
SV2A	9900	broad.mit.edu	37	1	149883426	149883426	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:149883426G>A	ENST00000369146.3	-	3	1219	c.729C>T	c.(727-729)agC>agT	p.S243S	SV2A_ENST00000369145.1_Silent_p.S243S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	243					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCGAAGACGCTGTTGACTG	0.567																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(727-729)agC>agT		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						125.0	91.0	102.0					1																	149883426		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149883426G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.729C>T	1.37:g.149883426G>A						SV2A_ENST00000369145.1_Silent_p.S243S	p.S243S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	1219	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		243					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.729C>T	CCDS940.1																																																																																				0.567	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			10	16	0	0	0	1	0	10	16				
GNRHR	2798	broad.mit.edu	37	4	68619935	68619935	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68619935G>A	ENST00000226413.4	-	1	143	c.119C>T	c.(118-120)aCg>aTg	p.T40M	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.T40M	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	40					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GAAAGTAACCGTCACTCGGAT	0.453																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(118-120)aCg>aTg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						94.0	102.0	99.0					4																	68619935		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619935G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.119C>T	4.37:g.68619935G>A	ENSP00000226413:p.Thr40Met					RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.T40M	p.T40M	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	143	-			40					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.119C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	2.431	-0.330875	0.05314	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.37752	1.18;1.18	6.03	1.89	0.25635	.	0.415049	0.23477	N	0.047748	T	0.18002	0.0432	N	0.19112	0.55	0.09310	N	0.999999	B;P	0.36048	0.101;0.534	B;B	0.24269	0.006;0.052	T	0.10268	-1.0637	10	0.48119	T	0.1	-3.4725	8.8289	0.35072	0.4012:0.0:0.5988:0.0	.	40;40	P30968;P30968-2	GNRHR_HUMAN;.	M	40	ENSP00000226413:T40M;ENSP00000397561:T40M	ENSP00000226413:T40M	T	-	2	0	GNRHR	68302530	0.003000	0.15002	0.255000	0.24374	0.009000	0.06853	0.860000	0.27871	0.436000	0.26393	-0.793000	0.03317	ACG		0.453	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			4	67	0	0	0	1	0	4	67				
RP1L1	94137	broad.mit.edu	37	8	10469158	10469158	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:10469158G>A	ENST00000382483.3	-	4	2673	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	817					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCCACCGCCCCTTGCTC	0.692																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2449-2451)gCg>gTg		retinitis pigmentosa 1-like 1							22.0	27.0	25.0					8																	10469158		1962	4120	6082	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469158G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2450C>T	8.37:g.10469158G>A	ENSP00000371923:p.Ala817Val						p.A817V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2673	-			817					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2450C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566198	0.27915	.	.	ENSG00000183638	ENST00000382483	T	0.04234	3.67	4.68	-3.14	0.05250	.	1.634080	0.04346	N	0.354782	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.34349	0.45	B	0.18561	0.022	T	0.38607	-0.9653	10	0.34782	T	0.22	0.0881	0.8985	0.01269	0.3156:0.106:0.318:0.2604	.	817	A6NKC6	.	V	817	ENSP00000371923:A817V	ENSP00000371923:A817V	A	-	2	0	RP1L1	10506568	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.075000	0.11431	-0.447000	0.07138	-0.521000	0.04368	GCG		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	16	0	0	0	1	0	6	16				
CRYM-AS1	400508	broad.mit.edu	37	16	21328282	21328282	+	lincRNA	SNP	G	G	A	rs372456362		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21328282G>A	ENST00000444326.1	+	0	398							A6NIL9	CRAS1_HUMAN	CRYM antisense RNA 1							integral component of membrane (GO:0016021)											AAATAAGAACGGACCTTTCGA	0.443																																						ENST00000444326.1																			0																				230.0	210.0	217.0					16																	21328282		1877	4123	6000			0							g.chr16:21328282G>A			16p12.2	2012-10-12	2012-08-15	2011-08-11	ENSG00000189149	ENSG00000189149		"""Long non-coding RNAs"""	34405	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 169"", ""CRYM antisense RNA 1 (non-protein coding)"""	NCRNA00169			Standard	NR_026675		Approved	FLJ41766	uc010bwr.1	A6NIL9	OTTHUMG00000156701		16.37:g.21328282G>A														0	398	+								B3KVZ2	RNA	SNP	ENST00000444326.1	37																																																																																						0.443	CRYM-AS1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000345335.1	NR_026675		69	113	0	0	0	1	0	69	113				
PRSS50	29122	broad.mit.edu	37	3	46753878	46753878	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:46753878G>A	ENST00000460241.1	-	11	2686	c.1016C>T	c.(1015-1017)gCc>gTc	p.A339V	PRSS50_ENST00000315170.7_Missense_Mutation_p.A339V			Q9UI38	TSP50_HUMAN	protease, serine, 50	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GATGGGTGGGGCCTCGCTCTT	0.642																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1015-1017)gCc>gTc		protease, serine, 50							65.0	58.0	60.0					3																	46753878		2203	4300	6503	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46753878G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.1016C>T	3.37:g.46753878G>A	ENSP00000418875:p.Ala339Val					PRSS50_ENST00000315170.7_Missense_Mutation_p.A339V	p.A339V			Q9UI38	TSP50_HUMAN			11	2686	-			339			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.1016C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	6.468	0.454542	0.12283	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.88431	-2.38;-2.38	4.08	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.336673	0.21831	N	0.068463	D	0.83348	0.5235	N	0.16790	0.44	0.09310	N	1	D	0.56968	0.978	P	0.58077	0.832	T	0.72620	-0.4238	10	0.17369	T	0.5	.	5.4581	0.16602	0.1103:0.2057:0.6839:0.0	.	339	Q9UI38	TSP50_HUMAN	V	253;339;339	ENSP00000326598:A339V;ENSP00000418875:A339V	ENSP00000326598:A339V	A	-	2	0	PRSS50	46728882	0.099000	0.21834	0.011000	0.14972	0.028000	0.11728	1.470000	0.35354	0.648000	0.30732	0.655000	0.94253	GCC		0.642	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			8	12	0	0	0	1	0	8	12				
EPHA4	2043	broad.mit.edu	37	2	222307708	222307708	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:222307708G>A	ENST00000281821.2	-	11	1956	c.1915C>T	c.(1915-1917)Cgt>Tgt	p.R639C	EPHA4_ENST00000409938.1_Missense_Mutation_p.R639C|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTTTGAGACGCCCACTGCAT	0.443																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1915-1917)Cgt>Tgt		EPH receptor A4							123.0	120.0	121.0					2																	222307708		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307708G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1915C>T	2.37:g.222307708G>A	ENSP00000281821:p.Arg639Cys					EPHA4_ENST00000409938.1_Missense_Mutation_p.R639C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639C|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588C	p.R639C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	11	1956	-		Renal(207;0.0183)	639			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1915C>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643035	0.87859	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82121	-0.0614	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	639	P54764	EPHA4_HUMAN	C	639;639;639;588	ENSP00000281821:R639C;ENSP00000386276:R639C;ENSP00000386829:R639C;ENSP00000375923:R588C	ENSP00000281821:R639C	R	-	1	0	EPHA4	222015952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CGT		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			4	44	0	0	0	1	0	4	44				
LENG8	114823	broad.mit.edu	37	19	54969700	54969700	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54969700C>T	ENST00000326764.5	+	15	2719	c.2240C>T	c.(2239-2241)aCc>aTc	p.T747I	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	710										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ATGATCAAAACGTATGTGGTG	0.617																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.e15+1		leukocyte receptor cluster (LRC) member 8							64.0	57.0	59.0					19																	54969700		2203	4300	6503	SO:0001630	splice_region_variant	114823						protein binding	g.chr19:54969700C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2240+1C>T	19.37:g.54969700C>T						LENG8_ENST00000376514.2_Intron	p.T747_splice	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	15	2719	+	Ovarian(34;0.19)		710					B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	ENST00000326764.5	37	c.2240_splice	CCDS12894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652991|4.652991	0.88056|0.88056	.|.	.|.	ENSG00000167615|ENSG00000167615	ENST00000326764;ENST00000421200|ENST00000301196;ENST00000376526;ENST00000431846	T;T|T;T	0.33438|0.33654	1.41;1.41|1.4;1.4	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.062472|0.062472	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.54351|0.54351	0.1853|0.1853	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|D	0.56521|0.76494	0.976|0.999	P|D	0.54100|0.66602	0.742|0.945	T|T	0.56920|0.56920	-0.7899|-0.7899	10|10	0.72032|0.87932	D|D	0.01|0	-42.413|-42.413	16.2559|16.2559	0.82517|0.82517	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	747|710	Q96PV6-2|F8W9Q9	.|.	I|M	747;36|710;710;747	ENSP00000318374:T747I;ENSP00000390612:T36I|ENSP00000365709:T710M;ENSP00000388053:T747M	ENSP00000318374:T747I|ENSP00000301196:T710M	T|T	+|+	2|2	0|0	LENG8|LENG8	59661512|59661512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.786000|6.786000	0.75094|0.75094	2.514000|2.514000	0.84764|0.84764	0.561000|0.561000	0.74099|0.74099	ACC;ACT|ACG		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	Missense_Mutation	16	17	0	0	0	1	0	16	17				
LSMEM2	132228	broad.mit.edu	37	3	50324108	50324108	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50324108G>A	ENST00000316436.3	+	3	263	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	59						integral component of membrane (GO:0016021)											CACCCAGCAGGCACACTGCGC	0.637																																						ENST00000316436.3																			0											c.(175-177)gGc>gAc		leucine-rich single-pass membrane protein 2							74.0	69.0	71.0					3																	50324108		2203	4300	6503	SO:0001583	missense	132228							g.chr3:50324108G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.176G>A	3.37:g.50324108G>A	ENSP00000315081:p.Gly59Asp						p.G59D	NM_153215.1	NP_694947.1					3	263	+									Missense_Mutation	SNP	ENST00000316436.3	37	c.176G>A	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667364	0.67814	.	.	ENSG00000179564	ENST00000316436	.	.	.	5.25	4.37	0.52481	.	0.000000	0.64402	D	0.000013	T	0.43809	0.1264	L	0.59436	1.845	0.29440	N	0.859196	B	0.31413	0.322	B	0.31812	0.136	T	0.50533	-0.8817	9	0.66056	D	0.02	-14.9452	9.8023	0.40773	0.0958:0.0:0.9042:0.0	.	59	Q8N112	CC045_HUMAN	D	59	.	ENSP00000315081:G59D	G	+	2	0	C3orf45	50299112	0.696000	0.27757	0.362000	0.25862	0.036000	0.12997	1.975000	0.40569	1.205000	0.43262	0.561000	0.74099	GGC		0.637	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		6	16	0	0	0	1	0	6	16				
NLRP14	338323	broad.mit.edu	37	11	7060964	7060964	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:7060964A>G	ENST00000299481.4	+	3	655	c.309A>G	c.(307-309)ggA>ggG	p.G103G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGACTATAGGACCAGATGATG	0.468																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(307-309)ggA>ggG		NLR family, pyrin domain containing 14							195.0	189.0	191.0					11																	7060964		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060964A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.309A>G	11.37:g.7060964A>G							p.G103G	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	655	+			103					Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.309A>G	CCDS7776.1																																																																																				0.468	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		17	39	0	0	0	1	0	17	39				
MGA	23269	broad.mit.edu	37	15	42041326	42041326	+	Missense_Mutation	SNP	C	C	T	rs377364179		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42041326C>T	ENST00000570161.1	+	16	5521	c.5521C>T	c.(5521-5523)Cgg>Tgg	p.R1841W	MGA_ENST00000545763.1_Missense_Mutation_p.R1632W|MGA_ENST00000389936.4_Missense_Mutation_p.R1802W|MGA_ENST00000566586.1_Missense_Mutation_p.R1632W|MGA_ENST00000219905.7_Missense_Mutation_p.R1841W			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGGGAATCCGGTTACCTGC	0.418																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5521-5523)Cgg>Tgg		MGA, MAX dimerization protein		C	TRP/ARG,TRP/ARG	0,3780		0,0,1890	109.0	103.0	105.0		4894,5521	5.7	1.0	15		105	1,8229		0,1,4114	no	missense,missense	MGA	NM_001080541.2,NM_001164273.1	101,101	0,1,6004	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging	1632/2857,1841/3066	42041326	1,12009	1890	4115	6005	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041326C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5521C>T	15.37:g.42041326C>T	ENSP00000457035:p.Arg1841Trp					MGA_ENST00000566586.1_Missense_Mutation_p.R1632W|MGA_ENST00000570161.1_Missense_Mutation_p.R1841W|MGA_ENST00000389936.4_Missense_Mutation_p.R1802W|MGA_ENST00000545763.1_Missense_Mutation_p.R1632W	p.R1841W	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	5702	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1802					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.5521C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201600	0.58234	0.0	1.22E-4	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.37411	1.2;1.2;1.2	5.72	5.72	0.89469	.	0.754840	0.11002	N	0.610431	T	0.49133	0.1539	N	0.24115	0.695	0.21897	N	0.999489	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.952;0.985;0.993;0.993	T	0.49725	-0.8909	10	0.87932	D	0	.	15.3283	0.74186	0.14:0.86:0.0:0.0	.	457;1632;1841;1802	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	W	1841;1802;1632	ENSP00000219905:R1841W;ENSP00000374586:R1802W;ENSP00000442467:R1632W	ENSP00000219905:R1841W	R	+	1	2	MGA	39828618	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.898000	0.56281	2.704000	0.92352	0.563000	0.77884	CGG		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		14	34	0	0	0	1	0	14	34				
RERE	473	broad.mit.edu	37	1	8424212	8424212	+	Silent	SNP	G	G	A	rs146907591		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8424212G>A	ENST00000337907.3	-	16	2278	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	RERE_ENST00000377464.1_Silent_p.P280P|RERE_ENST00000400908.2_Silent_p.P548P|RERE_ENST00000400907.2_Intron|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000476556.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	548					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGGGTCCACGGGCTTCTCAA	0.582																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1642-1644)ccC>ccT		arginine-glutamic acid dipeptide (RE) repeats		G	,,	1,4405	2.1+/-5.4	0,1,2202	85.0	84.0	84.0		1644,,1644	-10.4	0.4	1	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous,utr-5,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	548/1567,,548/1567	8424212	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424212G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1644C>T	1.37:g.8424212G>A						RERE_ENST00000400908.2_Silent_p.P548P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P280P	p.P548P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2278	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	548					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.1644C>T	CCDS95.1																																																																																				0.582	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			26	25	0	0	0	1	0	26	25				
SPTA1	6708	broad.mit.edu	37	1	158655080	158655080	+	Missense_Mutation	SNP	G	G	A	rs121918642		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158655080G>A	ENST00000368147.4	-	2	262	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	28			R -> C (in EL2). {ECO:0000269|PubMed:1679439}.|R -> H (in EL2; Corbeil; dbSNP:rs28934004). {ECO:0000269|PubMed:1679439}.|R -> L (in EL2). {ECO:0000269|PubMed:1679439}.|R -> S (in EL2; dbSNP:rs28934005). {ECO:0000269|PubMed:1679439, ECO:0000269|PubMed:1878597}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTCCTGACGCCTCTCCTGG	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM910358|CM910359	SPTA1	M	rs121918642	c.(82-84)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							145.0	145.0	145.0					1																	158655080		1910	4126	6036	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655080G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.82C>T	1.37:g.158655080G>A	ENSP00000357129:p.Arg28Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R28C	p.R28C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	262	-	all_hematologic(112;0.0378)		28		R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.82C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224169	0.79576	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.98	3.05	0.35203	.	0.000000	0.28790	N	0.014122	T	0.44074	0.1276	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38478	-0.9659	10	0.37606	T	0.19	.	8.3995	0.32576	0.0824:0.0:0.7587:0.1589	rs28934005	28	P02549	SPTA1_HUMAN	C	28	ENSP00000357130:R28C;ENSP00000357129:R28C	ENSP00000357129:R28C	R	-	1	0	SPTA1	156921704	1.000000	0.71417	0.354000	0.25760	0.996000	0.88848	4.742000	0.62103	0.644000	0.30656	0.467000	0.42956	CGT		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		36	44	0	0	0	1	0	36	44				
DONSON	29980	broad.mit.edu	37	21	34958331	34958331	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34958331C>T	ENST00000303071.5	-	3	625	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	DONSON_ENST00000303113.6_Missense_Mutation_p.V187I|DONSON_ENST00000432378.1_Missense_Mutation_p.V187I|DONSON_ENST00000453626.1_Missense_Mutation_p.V187I|AP000304.12_ENST00000429238.1_Missense_Mutation_p.C148Y	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	187					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CAATGCTGGACAAGACCTTGA	0.388																																						ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(559-561)Gtc>Atc		downstream neighbor of SON							118.0	104.0	109.0					21																	34958331		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34958331C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.559G>A	21.37:g.34958331C>T	ENSP00000307143:p.Val187Ile					DONSON_ENST00000303071.5_Missense_Mutation_p.V187I|DONSON_ENST00000432378.1_Missense_Mutation_p.V187I|AP000304.12_ENST00000429238.1_Missense_Mutation_p.C148Y|DONSON_ENST00000303113.6_Missense_Mutation_p.V187I	p.V187I			Q9NYP3	DONS_HUMAN			3	563	-			187					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.559G>A	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.69|13.69	2.312060|2.312060	0.40895|0.40895	.|.	.|.	ENSG00000159147;ENSG00000249209|ENSG00000159147	ENST00000440810;ENST00000429238|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.5|5.5	-2.45|-2.45	0.06481|0.06481	.|.	.|0.763892	.|0.12918	.|N	.|0.428401	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.001;0.003;0.001	.|B;B;B	.|0.11329	.|0.006;0.004;0.006	T|T	0.23261|0.23261	-1.0193|-1.0193	5|9	.|0.20046	.|T	.|0.44	-3.9277|-3.9277	11.7564|11.7564	0.51878|0.51878	0.0:0.5928:0.0:0.4072|0.0:0.5928:0.0:0.4072	.|.	.|187;187;187	.|F8W8A5;C9J4K5;Q9NYP3	.|.;.;DONS_HUMAN	Y|I	45;148|187	.|.	.|ENSP00000307143:V187I	C|V	-|-	2|1	0|0	DONSON;AP000304.12|DONSON	33880201|33880201	0.052000|0.052000	0.20516|0.20516	0.802000|0.802000	0.32245|0.32245	0.990000|0.990000	0.78478|0.78478	0.060000|0.060000	0.14342|0.14342	-0.470000|-0.470000	0.06901|0.06901	0.563000|0.563000	0.77884|0.77884	TGT|GTC		0.388	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		31	26	0	0	0	1	0	31	26				
LAMA1	284217	broad.mit.edu	37	18	7023302	7023302	+	Silent	SNP	G	G	A	rs188317411		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:7023302G>A	ENST00000389658.3	-	19	2655	c.2562C>T	c.(2560-2562)aaC>aaT	p.N854N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	854	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGGGGTCCACGTTGCCGCTGC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2560-2562)aaC>aaT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		0,4406		0,0,2203	97.0	87.0	90.0		2562	-6.7	0.5	18		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		854/3076	7023302	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023302G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2562C>T	18.37:g.7023302G>A							p.N854N	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			19	2655	-		Colorectal(10;0.172)	854			Laminin EGF-like 8.			Silent	SNP	ENST00000389658.3	37	c.2562C>T	CCDS32787.1																																																																																				0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		15	19	0	0	0	1	0	15	19				
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2554-2556)aCg>aTg		SET binding protein 1							87.0	60.0	69.0					18																	42531860		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531860C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2555C>T	18.37:g.42531860C>T	ENSP00000282030:p.Thr852Met						p.T852M	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2851	+			852					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2555C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	9	0	0	0	1	0	12	9				
CFTR	1080	broad.mit.edu	37	7	117232500	117232500	+	Missense_Mutation	SNP	C	C	T	rs397508359		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:117232500C>T	ENST00000003084.6	+	14	2411	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	CFTR_ENST00000454343.1_Missense_Mutation_p.T699M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	760					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACTGGCCCCACGCTTCAGGCA	0.517									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM993863	CFTR	M		c.(2278-2280)aCg>aTg		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						82.0	60.0	68.0					7																	117232500		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232500C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2279C>T	7.37:g.117232500C>T	ENSP00000003084:p.Thr760Met					CFTR_ENST00000454343.1_Missense_Mutation_p.T699M	p.T760M	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2411	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		760					Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2279C>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	2.042	-0.419846	0.04734	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95482	-3.72;-3.72;-3.72	5.35	1.47	0.22746	.	0.602886	0.19562	N	0.111301	D	0.89942	0.6861	L	0.35593	1.075	0.19575	N	0.999965	B	0.15719	0.014	B	0.13407	0.009	T	0.76729	-0.2852	10	0.18276	T	0.48	-2.6773	9.9512	0.41640	0.0:0.6339:0.0:0.3661	.	760	P13569	CFTR_HUMAN	M	760;699;730	ENSP00000003084:T760M;ENSP00000403677:T699M;ENSP00000389119:T730M	ENSP00000003084:T760M	T	+	2	0	CFTR	117019736	0.000000	0.05858	0.160000	0.22671	0.019000	0.09904	0.410000	0.21098	0.320000	0.23234	-0.222000	0.12452	ACG		0.517	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	8	0	0	0	1	0	9	8				
TRAV41	28640	broad.mit.edu	37	14	22788991	22788991	+	RNA	SNP	G	G	A	rs200470330		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22788991G>A	ENST00000390468.1	+	0	204									T cell receptor alpha variable 41																		TTGTTTCCTTGTTTATGCTGA	0.468																																						ENST00000390468.1																			0																				51.0	53.0	53.0					14																	22788991		1970	4179	6149			0							g.chr14:22788991G>A	AE000661		14q11.2	2012-02-07			ENSG00000211820	ENSG00000211820		"""T cell receptors / TRA locus"""	12142	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV19S1, TCRAV41S1			OTTHUMG00000170841		14.37:g.22788991G>A														0	204	+									RNA	SNP	ENST00000390468.1	37																																																																																						0.468	TRAV41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410667.1	NG_001332		4	9	0	0	0	1	0	4	9				
CDHR2	54825	broad.mit.edu	37	5	176011468	176011468	+	Missense_Mutation	SNP	G	G	A	rs199744196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:176011468G>A	ENST00000510636.1	+	19	2460	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	CDHR2_ENST00000261944.5_Missense_Mutation_p.R729H|CDHR2_ENST00000506348.1_Missense_Mutation_p.R729H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	729	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCAACAACCGCATCAGCTTC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18900	0.0		0.001	False		,,,				2504	0.0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2185-2187)cGc>cAc		cadherin-related family member 2							110.0	108.0	109.0					5																	176011468		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011468G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2186G>A	5.37:g.176011468G>A	ENSP00000424565:p.Arg729His					CDHR2_ENST00000506348.1_Missense_Mutation_p.R729H|CDHR2_ENST00000261944.5_Missense_Mutation_p.R729H	p.R729H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2460	+			729			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2186G>A	CCDS34297.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.49	3.635093	0.67130	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.54479	0.57;0.57;0.57	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72317	0.3445	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74962	-0.3485	9	0.72032	D	0.01	-23.9717	18.9313	0.92566	0.0:0.0:1.0:0.0	.	729	Q9BYE9	CDHR2_HUMAN	H	729	ENSP00000424565:R729H;ENSP00000261944:R729H;ENSP00000421078:R729H	ENSP00000261944:R729H	R	+	2	0	CDHR2	175944074	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	7.697000	0.84279	2.547000	0.85894	0.549000	0.68633	CGC		0.657	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	96	0	0	0	1	0	7	96				
TROAP	10024	broad.mit.edu	37	12	49724806	49724806	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49724806C>T	ENST00000257909.3	+	13	2174				TROAP_ENST00000547923.1_Intron|TROAP_ENST00000551245.1_Silent_p.T726T	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTGCCCCTACCCCAGGCAATC	0.622																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2176-2178)acC>acT		trophinin associated protein																																				SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49724806C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2098+80C>T	12.37:g.49724806C>T						TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Intron	p.T726T			Q12815	TROAP_HUMAN			13	2289	+			743					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.2178C>T	CCDS8784.1																																																																																				0.622	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		11	12	0	0	0	1	0	11	12				
WNT4	54361	broad.mit.edu	37	1	22446662	22446662	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:22446662G>A	ENST00000290167.6	-	5	980	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	WNT4_ENST00000542383.1_Missense_Mutation_p.R258C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	313					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGAAGCCGCGGCCACAGCAC	0.657																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(937-939)Cgc>Tgc		wingless-type MMTV integration site family, member 4							39.0	35.0	36.0					1																	22446662		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22446662G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.937C>T	1.37:g.22446662G>A	ENSP00000290167:p.Arg313Cys					WNT4_ENST00000542383.1_Missense_Mutation_p.R258C	p.R313C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	980	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	313					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.937C>T	CCDS223.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.171451	0.78452	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.80214	-1.35;-1.35	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93501	0.6844	10	0.87932	D	0	.	11.7721	0.51965	0.0:0.0:0.8239:0.1761	.	313	P56705	WNT4_HUMAN	C	313;258	ENSP00000290167:R313C;ENSP00000441033:R258C	ENSP00000290167:R313C	R	-	1	0	WNT4	22319249	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.286000	0.58995	2.312000	0.78011	0.450000	0.29827	CGC		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			12	12	0	0	0	1	0	12	12				
NIPAL3	57185	broad.mit.edu	37	1	24746044	24746044	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:24746044G>A	ENST00000374399.4	+	2	375	c.7G>A	c.(7-9)Gga>Aga	p.G3R	STPG1_ENST00000468303.1_5'Flank|NIPAL3_ENST00000339255.2_Missense_Mutation_p.G3R|NIPAL3_ENST00000358028.4_Missense_Mutation_p.G3R|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.G3R|NIPAL3_ENST00000488155.1_3'UTR	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	3						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CACCATGGACGGATCCCACAG	0.627																																						ENST00000358028.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(7-9)Gga>Aga		NIPA-like domain containing 3							42.0	39.0	40.0					1																	24746044		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24746044G>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.7G>A	1.37:g.24746044G>A	ENSP00000363520:p.Gly3Arg					NIPAL3_ENST00000488155.1_3'UTR|NIPAL3_ENST00000374399.4_Missense_Mutation_p.G3R|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000339255.2_Missense_Mutation_p.G3R|NIPAL3_ENST00000428131.1_Missense_Mutation_p.G3R	p.G3R			Q6P499	NPAL3_HUMAN			2	356	+			3					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.7G>A	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886654	0.33348	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.94828	-2.79;-3.53;-2.81;-3.53	5.12	2.24	0.28232	.	0.403752	0.23799	N	0.044447	D	0.90844	0.7124	M	0.63428	1.95	0.09310	N	1	B;B;B	0.19073	0.014;0.003;0.033	B;B;B	0.12837	0.006;0.002;0.008	T	0.82940	-0.0208	10	0.54805	T	0.06	-0.104	4.8999	0.13769	0.1909:0.1904:0.6186:0.0	.	3;3;3	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	R	3	ENSP00000363520:G3R;ENSP00000350722:G3R;ENSP00000343549:G3R;ENSP00000406509:G3R	ENSP00000343549:G3R	G	+	1	0	NIPAL3	24618631	0.115000	0.22152	0.024000	0.17045	0.041000	0.13682	0.402000	0.20965	0.316000	0.23135	0.655000	0.94253	GGA		0.627	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		4	17	0	0	0	1	0	4	17				
GGT7	2686	broad.mit.edu	37	20	33440320	33440320	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:33440320G>A	ENST00000336431.5	-	11	1385	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	447					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TATGGCCCCGGAGGTAGGCGG	0.577																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1339-1341)ctC>ctT		gamma-glutamyltransferase 7							36.0	39.0	38.0					20																	33440320		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440320G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1341C>T	20.37:g.33440320G>A							p.L447L	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			11	1385	-			447					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1341C>T	CCDS13242.2																																																																																				0.577	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	46	0	0	0	1	0	8	46				
NUCB2	4925	broad.mit.edu	37	11	17351800	17351800	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17351800C>T	ENST00000529010.1	+	12	1348	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NUCB2_ENST00000458064.2_Missense_Mutation_p.R347C|NUCB2_ENST00000323688.6_Missense_Mutation_p.R377C	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	377	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGCTACAACGTCAGCATGA	0.338																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1129-1131)Cgt>Tgt		nucleobindin 2							59.0	56.0	57.0					11																	17351800		1881	4107	5988	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17351800C>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1129C>T	11.37:g.17351800C>T	ENSP00000436455:p.Arg377Cys					NUCB2_ENST00000323688.6_Missense_Mutation_p.R377C|NUCB2_ENST00000458064.2_Missense_Mutation_p.R347C	p.R377C	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			12	1348	+			377			Binds to necdin (By similarity).		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.1129C>T	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.91|19.91	3.914631|3.914631	0.72983|0.72983	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	T;T;T|.	0.19806|.	2.15;2.15;2.12|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.045272|.	0.85682|.	D|.	0.000000|.	T|T	0.70850|0.70850	0.3271|0.3271	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	P;P|.	0.56278|.	0.795;0.65|.	T|T	0.68697|0.68697	-0.5340|-0.5340	10|5	0.87932|.	D|.	0|.	-9.7944|-9.7944	14.5436|14.5436	0.68013|0.68013	0.1815:0.8185:0.0:0.0|0.1815:0.8185:0.0:0.0	.|.	347;377|.	E7EV42;P80303|.	.;NUCB2_HUMAN|.	C|M	377;377;347|154	ENSP00000320168:R377C;ENSP00000436455:R377C;ENSP00000408702:R347C|.	ENSP00000320168:R377C|.	R|T	+|+	1|2	0|0	NUCB2|NUCB2	17308376|17308376	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	3.558000|3.558000	0.53749|0.53749	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.338	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		15	22	0	0	0	1	0	15	22				
DLGAP2	9228	broad.mit.edu	37	8	1496891	1496891	+	Missense_Mutation	SNP	C	C	T	rs569803609	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:1496891C>T	ENST00000421627.2	+	2	166	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	90					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGACCCAGCCGCCGCTGTGT	0.706													C|||	6	0.00119808	0.0	0.0014	5008	,	,		10045	0.0		0.0	False		,,,				2504	0.0051					ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(31-33)cCg>cTg		discs, large (Drosophila) homolog-associated protein 2							9.0	10.0	9.0					8																	1496891		1633	3404	5037	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496891C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.32C>T	8.37:g.1496891C>T	ENSP00000400258:p.Pro11Leu						p.P11L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	166	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	90					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.32C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.571034|1.571034	0.28003|0.28003	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.10477|.	2.87|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.466331|.	0.26359|.	N|.	0.024833|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.14661|0.14661	0.345|0.345	0.40803|0.40803	D|D	0.983353|0.983353	B;B|.	0.12013|.	0.003;0.005|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.49072|0.49072	-0.8977|-0.8977	10|5	0.44086|.	T|.	0.13|.	-11.0998|-11.0998	17.9068|17.9068	0.88920|0.88920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	90;90|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	L|C	56;11|28	ENSP00000400258:P11L|.	ENSP00000348366:P56L|.	P|R	+|+	2|1	0|0	DLGAP2|DLGAP2	1484298|1484298	0.971000|0.971000	0.33674|0.33674	0.006000|0.006000	0.13384|0.13384	0.641000|0.641000	0.38312|0.38312	2.565000|2.565000	0.45939|0.45939	2.217000|2.217000	0.71921|0.71921	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	12	0	0	0	1	0	11	12				
SEC63	11231	broad.mit.edu	37	6	108243079	108243079	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108243079C>T	ENST00000369002.4	-	4	553	c.374G>A	c.(373-375)cGt>cAt	p.R125H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	125	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGACAGCAAACGATATTGTTT	0.348																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-375)cGt>cAt		SEC63 homolog (S. cerevisiae)							196.0	175.0	182.0					6																	108243079		2202	4300	6502	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108243079C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.374G>A	6.37:g.108243079C>T	ENSP00000357998:p.Arg125His						p.R125H	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	4	553	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	125			J.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.374G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438681	0.83885	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.40756	1.02;1.02	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (5);	0.053822	0.64402	D	0.000001	T	0.58793	0.2147	M	0.75264	2.295	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	T	0.63319	-0.6664	10	0.87932	D	0	-7.2868	17.4917	0.87705	0.0:1.0:0.0:0.0	.	125	Q9UGP8	SEC63_HUMAN	H	125;69	ENSP00000357998:R125H;ENSP00000403144:R69H	ENSP00000357998:R125H	R	-	2	0	SEC63	108349772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.556000	0.86216	0.650000	0.86243	CGT		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		19	33	0	0	0	1	0	19	33				
WBSCR17	64409	broad.mit.edu	37	7	71135078	71135078	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:71135078C>T	ENST00000333538.5	+	8	2022	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	463					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TACAATAATACCGTTGCTTAC	0.433																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1387-1389)aCc>aTc		Williams-Beuren syndrome chromosome region 17							206.0	200.0	202.0					7																	71135078		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135078C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1388C>T	7.37:g.71135078C>T	ENSP00000329654:p.Thr463Ile					WBSCR17_ENST00000498380.2_3'UTR	p.T463I	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			8	2022	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	463					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1388C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	6.677	0.493546	0.12702	.	.	ENSG00000185274	ENST00000333538	T	0.30981	1.51	4.85	4.85	0.62838	Ricin B-related lectin (1);	0.314136	0.33110	N	0.005262	T	0.18882	0.0453	N	0.03304	-0.355	0.54753	D	0.999982	P	0.51147	0.942	P	0.50352	0.638	T	0.06661	-1.0814	10	0.19590	T	0.45	.	10.5677	0.45181	0.0:0.9112:0.0:0.0888	.	463	Q6IS24	GLTL3_HUMAN	I	463	ENSP00000329654:T463I	ENSP00000329654:T463I	T	+	2	0	WBSCR17	70773014	1.000000	0.71417	0.824000	0.32777	0.723000	0.41478	4.982000	0.63825	2.238000	0.73509	0.591000	0.81541	ACC		0.433	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		55	81	0	0	0	1	0	55	81				
ZFR2	23217	broad.mit.edu	37	19	3833723	3833723	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3833723C>T	ENST00000262961.4	-	3	328	c.318G>A	c.(316-318)ccG>ccA	p.P106P	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	106							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTGGAAGTACGGCCTGTCCT	0.622																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(316-318)ccG>ccA		zinc finger RNA binding protein 2							38.0	46.0	43.0					19																	3833723		2198	4294	6492	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3833723C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.318G>A	19.37:g.3833723C>T						ZFR2_ENST00000591965.1_5'UTR	p.P106P	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	3	328	-			106						Silent	SNP	ENST00000262961.4	37	c.318G>A	CCDS45921.1																																																																																				0.622	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		4	8	0	0	0	1	0	4	8				
CAD	790	broad.mit.edu	37	2	27447963	27447963	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447963C>T	ENST00000403525.1	+	11	1616	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	CAD_ENST00000264705.4_Missense_Mutation_p.A491V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCAAGGCCGGGGTGCTG	0.602																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1471-1473)gCc>gTc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						74.0	70.0	71.0					2																	27447963		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447963C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1472C>T	2.37:g.27447963C>T	ENSP00000384510:p.Ala491Val					CAD_ENST00000403525.1_Missense_Mutation_p.A491V	p.A491V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1634	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		491			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1472C>T		.	.	.	.	.	.	.	.	.	.	C	14.73	2.622144	0.46840	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97791	-4.54;-4.54	5.54	3.59	0.41128	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.505572	0.22913	N	0.054116	D	0.97025	0.9028	M	0.88704	2.975	0.22827	N	0.998682	B;B	0.17667	0.022;0.023	B;B	0.23150	0.044;0.009	D	0.93566	0.6899	10	0.51188	T	0.08	-7.6786	9.4459	0.38697	0.144:0.4521:0.4039:0.0	.	491;491	F8VPD4;P27708	.;PYR1_HUMAN	V	491	ENSP00000264705:A491V;ENSP00000384510:A491V	ENSP00000264705:A491V	A	+	2	0	CAD	27301467	0.024000	0.19004	0.836000	0.33094	0.964000	0.63967	0.214000	0.17541	1.300000	0.44818	0.462000	0.41574	GCC		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			12	19	0	0	0	1	0	12	19				
STK32B	55351	broad.mit.edu	37	4	5448495	5448495	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:5448495C>T	ENST00000282908.5	+	7	1080	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R143W|STK32B_ENST00000510398.1_Missense_Mutation_p.R173W	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TGAGCTGCTGCGGGGCTGGGT	0.642																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(658-660)Cgg>Tgg		serine/threonine kinase 32B							62.0	56.0	58.0					4																	5448495		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5448495C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.658C>T	4.37:g.5448495C>T	ENSP00000282908:p.Arg220Trp					STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R143W|STK32B_ENST00000510398.1_Missense_Mutation_p.R173W	p.R220W	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			7	1080	+			220			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.658C>T	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602314	0.87157	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24908	1.83;1.83;1.83	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38605	U	0.001632	T	0.40423	0.1116	L	0.39245	1.2	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.11817	-1.0572	10	0.52906	T	0.07	.	11.7167	0.51657	0.1764:0.8235:0.0:0.0	.	220	Q9NY57	ST32B_HUMAN	W	220;143;173	ENSP00000282908:R220W;ENSP00000423209:R143W;ENSP00000420984:R173W	ENSP00000282908:R220W	R	+	1	2	STK32B	5499396	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.790000	0.26900	2.523000	0.85059	0.561000	0.74099	CGG		0.642	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		7	14	0	0	0	1	0	7	14				
ADORA1	134	broad.mit.edu	37	1	203098231	203098231	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203098231C>A	ENST00000367236.4	+	2	1183	c.262C>A	c.(262-264)Ctc>Atc	p.L88I	RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000337894.4_Missense_Mutation_p.L88I|ADORA1_ENST00000309502.3_Missense_Mutation_p.L88I|ADORA1_ENST00000367235.1_Missense_Mutation_p.L88I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	88					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTGTCCGGTCCTCATCCTCAC	0.622																																						ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(262-264)Ctc>Atc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						184.0	170.0	175.0					1																	203098231		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203098231C>A	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.262C>A	1.37:g.203098231C>A	ENSP00000356205:p.Leu88Ile					ADORA1_ENST00000367235.1_Missense_Mutation_p.L88I|ADORA1_ENST00000309502.3_Missense_Mutation_p.L88I|ADORA1_ENST00000337894.4_Missense_Mutation_p.L88I	p.L88I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			2	1183	+			88					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.262C>A	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777809	0.70107	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	L	0.42245	1.32	0.54753	D	0.999985	D;P	0.76494	0.999;0.861	D;P	0.76071	0.987;0.874	T	0.70956	-0.4731	10	0.15952	T	0.53	-34.2867	13.4465	0.61144	0.0:0.9241:0.0:0.0759	.	121;88	B7Z379;P30542	.;AA1R_HUMAN	I	88	ENSP00000308549:L88I;ENSP00000356205:L88I;ENSP00000338435:L88I;ENSP00000356204:L88I	ENSP00000308549:L88I	L	+	1	0	ADORA1	201364854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.889000	0.56212	1.163000	0.42636	0.655000	0.94253	CTC		0.622	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		54	76	1	0	1.72039e-30	1	1.92864e-30	54	76				
DNAH17	8632	broad.mit.edu	37	17	76488767	76488767	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76488767G>T	ENST00000585328.1	-	42	6598	c.6474C>A	c.(6472-6474)acC>acA	p.T2158T	DNAH17_ENST00000389840.5_Silent_p.T2149T|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2149	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCGTCGCAGGTGACGGCCT	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6445-6447)acC>acA		dynein, axonemal, heavy chain 17							79.0	83.0	82.0					17																	76488767		2026	4193	6219	SO:0001819	synonymous_variant	8632							g.chr17:76488767G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6474C>A	17.37:g.76488767G>T						RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.T2158T	p.T2149T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		42	6571	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6447C>A																																																																																					0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	9	1	0	0.0293803	1	0.0295506	7	9				
PCNXL3	399909	broad.mit.edu	37	11	65392916	65392916	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65392916C>T	ENST00000355703.3	+	18	3609	c.3070C>T	c.(3070-3072)Cgc>Tgc	p.R1024C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1024						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGGAGGAGCGCAGCTTGGA	0.711																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3070-3072)Cgc>Tgc		pecanex-like 3 (Drosophila)							25.0	30.0	29.0					11																	65392916		1955	4126	6081	SO:0001583	missense	399909					integral to membrane		g.chr11:65392916C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3070C>T	11.37:g.65392916C>T	ENSP00000347931:p.Arg1024Cys						p.R1024C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			18	3609	+			1024					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3070C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012912	0.75161	.	.	ENSG00000197136	ENST00000355703	T	0.07688	3.17	4.82	3.87	0.44632	.	.	.	.	.	T	0.17238	0.0414	L	0.44542	1.39	0.45662	D	0.998583	D	0.76494	0.999	P	0.62089	0.898	T	0.00601	-1.1650	9	0.72032	D	0.01	.	10.5674	0.45181	0.0:0.8045:0.1955:0.0	.	1024	Q9H6A9	PCX3_HUMAN	C	1024	ENSP00000347931:R1024C	ENSP00000347931:R1024C	R	+	1	0	PCNXL3	65149492	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.130000	0.31393	1.202000	0.43218	0.655000	0.94253	CGC		0.711	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		15	27	0	0	0	1	0	15	27				
P4HTM	54681	broad.mit.edu	37	3	49027944	49027944	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49027944C>T	ENST00000383729.4	+	1	626	c.255C>T	c.(253-255)agC>agT	p.S85S	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Silent_p.S85S	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	85						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGCACTACAGCAACGGCGACG	0.677																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(253-255)agC>agT		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						32.0	21.0	25.0					3																	49027944		2195	4281	6476	SO:0001819	synonymous_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49027944C>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.255C>T	3.37:g.49027944C>T						P4HTM_ENST00000383729.4_Silent_p.S85S	p.S85S	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			1	623	+			85					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	c.255C>T	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	4.784	0.145864	0.09134	.	.	ENSG00000178467	ENST00000444213	.	.	.	4.35	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.8866	8.5292	0.33324	0.0:0.7375:0.0:0.2625	.	.	.	.	X	37	.	.	Q	+	1	0	P4HTM	49002948	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	1.731000	0.38135	0.294000	0.22547	-0.379000	0.06801	CAA		0.677	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	18	0	0	0	1	0	5	18				
TIGD4	201798	broad.mit.edu	37	4	153691371	153691371	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(784-786)tcC>tcT		tigger transposable element derived 4							129.0	130.0	130.0					4																	153691371		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691371G>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.786C>T	4.37:g.153691371G>A							p.S262S	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1606	-	all_hematologic(180;0.093)		262			DDE.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.786C>T	CCDS34079.1																																																																																				0.408	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		30	58	0	0	0	1	0	30	58				
TAX1BP1	8887	broad.mit.edu	37	7	27797681	27797681	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:27797681C>T	ENST00000396319.2	+	3	282	c.194C>T	c.(193-195)aCg>aTg	p.T65M	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T65M|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T65M	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	65					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GATTATTACACGTTTTTATGG	0.378																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(193-195)aCg>aTg		Tax1 (human T-cell leukemia virus type I) binding protein 1							239.0	198.0	212.0					7																	27797681		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27797681C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.194C>T	7.37:g.27797681C>T	ENSP00000379612:p.Thr65Met					TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T65M|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T65M|TAX1BP1_ENST00000433216.2_5'UTR	p.T65M	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		3	282	+			65					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.194C>T	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302092	0.81136	.	.	ENSG00000106052	ENST00000418691;ENST00000543117;ENST00000422800;ENST00000265393;ENST00000409980;ENST00000396319	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.13	4.25	0.50352	.	0.000000	0.56097	D	0.000038	T	0.43700	0.1259	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48007	-0.9072	10	0.87932	D	0	-12.1481	13.5028	0.61467	0.0:0.9242:0.0:0.0758	.	65;65	Q86VP1;Q86VP1-2	TAXB1_HUMAN;.	M	65	ENSP00000411490:T65M;ENSP00000444811:T65M;ENSP00000395290:T65M;ENSP00000265393:T65M;ENSP00000386515:T65M;ENSP00000379612:T65M	ENSP00000265393:T65M	T	+	2	0	TAX1BP1	27764206	1.000000	0.71417	0.665000	0.29768	0.929000	0.56500	7.404000	0.79996	1.155000	0.42497	0.460000	0.39030	ACG		0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		20	56	0	0	0	1	0	20	56				
GRID2	2895	broad.mit.edu	37	4	94344062	94344062	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:94344062C>T	ENST00000282020.4	+	10	1746	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	GRID2_ENST00000510992.1_Silent_p.Y401Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	496					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCACAAATACGGAAGCCCAC	0.393																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1486-1488)taC>taT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						115.0	116.0	116.0					4																	94344062		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94344062C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1488C>T	4.37:g.94344062C>T						GRID2_ENST00000510992.1_Silent_p.Y401Y	p.Y496Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	10	1746	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	496					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1488C>T	CCDS3637.1																																																																																				0.393	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			13	22	0	0	0	1	0	13	22				
PALLD	23022	broad.mit.edu	37	4	169611766	169611766	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169611766A>G	ENST00000505667.1	+	7	1521	c.1348A>G	c.(1348-1350)Aca>Gca	p.T450A	PALLD_ENST00000333488.4_Missense_Mutation_p.T327A|PALLD_ENST00000335742.7_Missense_Mutation_p.T68A|PALLD_ENST00000512127.1_Missense_Mutation_p.T68A|PALLD_ENST00000261509.6_Missense_Mutation_p.T450A			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	450	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACTGCAAAACACAGCCGTGGC	0.498									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(202-204)Aca>Gca		palladin, cytoskeletal associated protein							81.0	95.0	90.0					4																	169611766		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169611766A>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1348A>G	4.37:g.169611766A>G	ENSP00000425556:p.Thr450Ala					PALLD_ENST00000261509.6_Missense_Mutation_p.T450A|PALLD_ENST00000512127.1_Missense_Mutation_p.T68A|PALLD_ENST00000505667.1_Missense_Mutation_p.T450A|PALLD_ENST00000333488.4_Missense_Mutation_p.T327A	p.T68A			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	7	1559	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	450					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.202A>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	3.908	-0.020575	0.07634	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	T;T;T;T;T;T;T;T	0.69806	-0.18;-0.18;-0.18;-0.18;-0.18;-0.43;-0.18;-0.18	5.87	5.87	0.94306	.	0.237968	0.20119	U	0.098851	T	0.48447	0.1500	L	0.28608	0.87	0.09310	N	1	B;B;B	0.20887	0.049;0.0;0.006	B;B;B	0.24394	0.053;0.0;0.012	T	0.29181	-1.0020	10	0.22706	T	0.39	.	2.6775	0.05084	0.6023:0.1292:0.074:0.1945	.	450;68;450	B7ZMM5;B3KTG2;B2RTX2	.;.;.	A	450;68;450;429;327;68;68;68;68	ENSP00000261509:T450A;ENSP00000336735:T68A;ENSP00000425556:T450A;ENSP00000423063:T429A;ENSP00000328945:T327A;ENSP00000424121:T68A;ENSP00000426947:T68A;ENSP00000424288:T68A	ENSP00000261509:T450A	T	+	1	0	PALLD	169848341	0.640000	0.27243	0.814000	0.32528	0.001000	0.01503	2.463000	0.45058	2.242000	0.73789	0.528000	0.53228	ACA		0.498	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		44	67	0	0	0	1	0	44	67				
PARD6B	84612	broad.mit.edu	37	20	49354420	49354420	+	Silent	SNP	G	G	A	rs75953522	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:49354420G>A	ENST00000371610.2	+	2	336	c.93G>A	c.(91-93)tcG>tcA	p.S31S	PARD6B_ENST00000396039.1_Silent_p.S31S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	31	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GTCGGTTTTCGCTGGAAAGAT	0.338													G|||	5	0.000998403	0.003	0.0	5008	,	,		15453	0.0		0.001	False		,,,				2504	0.0					ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(91-93)tcG>tcA		par-6 family cell polarity regulator beta		G		23,4383	29.0+/-57.7	0,23,2180	66.0	66.0	66.0		93	-11.7	0.8	20	dbSNP_133	66	0,8600		0,0,4300	no	coding-synonymous	PARD6B	NM_032521.2		0,23,6480	AA,AG,GG		0.0,0.522,0.1768		31/373	49354420	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49354420G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.93G>A	20.37:g.49354420G>A						PARD6B_ENST00000396039.1_Silent_p.S31S	p.S31S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			2	336	+			31			OPR.		A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	c.93G>A	CCDS33485.1																																																																																				0.338	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		17	27	0	0	0	1	0	17	27				
RET	5979	broad.mit.edu	37	10	43622199	43622199	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43622199C>T	ENST00000355710.3	+	19	3419				RET_ENST00000340058.5_Silent_p.F1072F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTACTAGATTCTAGCACCGCT	0.443		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000340058.5		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3214-3216)ttC>ttT		ret proto-oncogene	Sunitinib(DB01268)						59.0	58.0	58.0					10																	43622199		2203	4300	6503	SO:0001627	intron_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622199C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3187+29C>T	10.37:g.43622199C>T						RET_ENST00000355710.3_Intron	p.F1072F	NM_020630.4	NP_065681.1	P07949	RET_HUMAN			19	3396	+		Ovarian(717;0.0423)	0					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.3216C>T	CCDS7200.1																																																																																				0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	9	0	0	0	1	0	6	9				
POLD1	5424	broad.mit.edu	37	19	50912858	50912858	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50912858G>A	ENST00000440232.2	+	17	2142	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	POLD1_ENST00000595904.1_Missense_Mutation_p.A723T|POLD1_ENST00000599857.1_Missense_Mutation_p.A697T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	697					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGGTGAGCGCCAACTCCGT	0.687								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2089-2091)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							56.0	63.0	60.0					19																	50912858		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50912858G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2089G>A	19.37:g.50912858G>A	ENSP00000406046:p.Ala697Thr					POLD1_ENST00000595904.1_Missense_Mutation_p.A723T|POLD1_ENST00000599857.1_Missense_Mutation_p.A697T	p.A697T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	17	2142	+		all_neural(266;0.0571)	697					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2089G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475944	0.96291	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22134	1.97	4.38	4.38	0.52667	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	H	0.95043	3.615	0.80722	D	1	D;D	0.67145	0.996;0.982	P;P	0.62560	0.904;0.799	T	0.73033	-0.4110	10	0.87932	D	0	-21.7061	16.0916	0.81094	0.0:0.0:1.0:0.0	.	723;697	E7EVW0;P28340	.;DPOD1_HUMAN	T	697;698	ENSP00000406046:A697T	ENSP00000366129:A698T	A	+	1	0	POLD1	55604670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.856000	0.92245	2.190000	0.69967	0.561000	0.74099	GCC		0.687	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			36	50	0	0	0	1	0	36	50				
IGKV1-6	28943	broad.mit.edu	37	2	89265836	89265836	+	RNA	SNP	C	C	T	rs561674977	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:89265836C>T	ENST00000464162.1	-	0	324									immunoglobulin kappa variable 1-6																		AGGCTGCAGGCTGCTGATGGT	0.488													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		9974	0.0		0.0	False		,,,				2504	0.0					ENST00000464162.1																			0																				160.0	154.0	156.0					2																	89265836		1882	4109	5991			0							g.chr2:89265836C>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265836C>T														0	324	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.488	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		64	92	0	0	0	1	0	64	92				
ARID4B	51742	broad.mit.edu	37	1	235383805	235383805	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235383805C>T	ENST00000264183.3	-	15	1716	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	ARID4B_ENST00000366603.2_Missense_Mutation_p.A407T|ARID4B_ENST00000349213.3_Missense_Mutation_p.A407T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	407	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGGCAATGCCATCTGAAAT	0.313																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1219-1221)Gca>Aca		AT rich interactive domain 4B (RBP1-like)							87.0	79.0	82.0					1																	235383805		2203	4298	6501	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383805C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1219G>A	1.37:g.235383805C>T	ENSP00000264183:p.Ala407Thr					ARID4B_ENST00000366603.2_Missense_Mutation_p.A407T|ARID4B_ENST00000349213.3_Missense_Mutation_p.A407T	p.A407T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		15	1716	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	407			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1219G>A	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898111	0.91962	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.23552	1.9;1.91;1.91;1.91	5.51	5.51	0.81932	ARID/BRIGHT DNA-binding domain (2);	0.199078	0.44902	D	0.000417	T	0.25344	0.0616	N	0.24115	0.695	0.51233	D	0.999918	P;P;P;P	0.51791	0.948;0.763;0.763;0.651	P;B;B;B	0.48227	0.571;0.288;0.382;0.15	T	0.01566	-1.1323	10	0.14656	T	0.56	-16.6688	19.7818	0.96418	0.0:1.0:0.0:0.0	.	88;407;407;407	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	T	407	ENSP00000264184:A407T;ENSP00000355562:A407T;ENSP00000264183:A407T;ENSP00000391497:A407T	ENSP00000264183:A407T	A	-	1	0	ARID4B	233450428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.407000	0.66363	2.736000	0.93811	0.655000	0.94253	GCA		0.313	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		3	27	0	0	0	1	0	3	27				
RAB32	10981	broad.mit.edu	37	6	146865059	146865059	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:146865059G>A	ENST00000367495.3	+	1	231	c.52G>A	c.(52-54)Gcg>Acg	p.A18T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	18					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		cgccgccccagcgcccgAGAC	0.726																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(52-54)Gcg>Acg		RAB32, member RAS oncogene family							17.0	18.0	17.0					6																	146865059		2195	4293	6488	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865059G>A	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.52G>A	6.37:g.146865059G>A	ENSP00000356465:p.Ala18Thr						p.A18T	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	231	+		Ovarian(120;0.142)	18						Missense_Mutation	SNP	ENST00000367495.3	37	c.52G>A	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106720	0.56291	.	.	ENSG00000118508	ENST00000367495	T	0.72051	-0.62	4.33	3.45	0.39498	.	0.727014	0.13093	N	0.414348	T	0.31199	0.0789	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21415	-1.0246	10	0.30854	T	0.27	0.9437	9.9871	0.41847	0.102:0.0:0.898:0.0	.	18	Q13637	RAB32_HUMAN	T	18	ENSP00000356465:A18T	ENSP00000356465:A18T	A	+	1	0	RAB32	146906752	.	.	0.004000	0.12327	0.004000	0.04260	.	.	0.819000	0.34492	-0.266000	0.10368	GCG		0.726	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		6	13	0	0	0	1	0	6	13				
AKR1C1	1645	broad.mit.edu	37	10	5008275	5008275	+	Splice_Site	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5008275T>G	ENST00000380872.4	+	2	444		c.e2+2		AKR1C1_ENST00000434459.2_Splice_Site|AKR1C1_ENST00000380859.1_Splice_Site|AKR1C1_ENST00000477661.1_Splice_Site	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	ACTTCAAAGGTACTGTGCCTA	0.428																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.e2+2		aldo-keto reductase family 1, member C1							85.0	72.0	76.0					10																	5008275		2202	4280	6482	SO:0001630	splice_region_variant	1645							g.chr10:5008275T>G	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.252+2T>G	10.37:g.5008275T>G						AKR1C1_ENST00000477661.1_Splice_Site|AKR1C1_ENST00000434459.2_Splice_Site|AKR1C1_ENST00000380859.1_Splice_Site		NM_001353.5	NP_001344.2					2	444	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Splice_Site	SNP	ENST00000380872.4	37		CCDS7061.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365056	0.24684	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000442997;ENST00000380859	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4675	0.32964	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKR1C1	4998275	1.000000	0.71417	0.775000	0.31657	0.448000	0.32197	5.856000	0.69518	1.140000	0.42260	0.254000	0.18369	.		0.428	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353	Intron	27	27	0	0	0	1	0	27	27				
KDM3A	55818	broad.mit.edu	37	2	86701961	86701961	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86701961A>G	ENST00000409556.1	+	13	2152	c.1787A>G	c.(1786-1788)gAc>gGc	p.D596G	KDM3A_ENST00000542128.1_Missense_Mutation_p.D544G|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Missense_Mutation_p.D596G|KDM3A_ENST00000409064.1_Missense_Mutation_p.D596G			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	596					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AACAAGTATGACAATGAAGCA	0.418																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1786-1788)gAc>gGc		lysine (K)-specific demethylase 3A							219.0	187.0	198.0					2																	86701961		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86701961A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1787A>G	2.37:g.86701961A>G	ENSP00000386660:p.Asp596Gly					KDM3A_ENST00000409064.1_Missense_Mutation_p.D596G|KDM3A_ENST00000312912.5_Missense_Mutation_p.D596G|KDM3A_ENST00000542128.1_Missense_Mutation_p.D544G|KDM3A_ENST00000485171.1_3'UTR	p.D596G			Q9Y4C1	KDM3A_HUMAN			13	2152	+			596					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1787A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796153	0.90453	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.93	T	0.78526	-0.2170	10	0.62326	D	0.03	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	544;596	F5H070;Q9Y4C1	.;KDM3A_HUMAN	G	596;596;596;596;544	ENSP00000386660:D596G;ENSP00000323659:D596G;ENSP00000386516:D596G;ENSP00000438324:D544G	ENSP00000323659:D596G	D	+	2	0	KDM3A	86555472	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	6.046000	0.71029	2.371000	0.80710	0.533000	0.62120	GAC		0.418	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		15	92	0	0	0	1	0	15	92				
SEMA3D	223117	broad.mit.edu	37	7	84644455	84644455	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:84644455G>A	ENST00000284136.6	-	14	1666	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	541	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGTCTGCGCAAGCTTTCC	0.478																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1621-1623)tgC>tgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							140.0	128.0	132.0					7																	84644455		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644455G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1623C>T	7.37:g.84644455G>A						SEMA3D_ENST00000484038.1_5'UTR	p.C541C	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			14	1666	-			541			PSI.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1623C>T	CCDS34676.1																																																																																				0.478	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		26	38	0	0	0	1	0	26	38				
C3orf18	51161	broad.mit.edu	37	3	50598395	50598395	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50598395C>T	ENST00000357203.3	-	5	900	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	C3orf18_ENST00000449241.1_Missense_Mutation_p.A121T|C3orf18_ENST00000422619.1_Missense_Mutation_p.A69T|C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000441239.1_Missense_Mutation_p.A101T|C3orf18_ENST00000426034.1_Missense_Mutation_p.A121T	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	121						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		ACAGAGGCGGCGTCCCGCCCA	0.632																																						ENST00000357203.3																			0				lung(1)|pancreas(1)|skin(1)	3						c.(361-363)Gcc>Acc		chromosome 3 open reading frame 18							91.0	80.0	84.0					3																	50598395		2203	4300	6503	SO:0001583	missense	51161					integral to membrane		g.chr3:50598395C>T	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.361G>A	3.37:g.50598395C>T	ENSP00000349732:p.Ala121Thr					C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000441239.1_Missense_Mutation_p.A101T|C3orf18_ENST00000422619.1_Missense_Mutation_p.A69T|C3orf18_ENST00000449241.1_Missense_Mutation_p.A121T|C3orf18_ENST00000426034.1_Missense_Mutation_p.A121T	p.A121T	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	5	900	-			121					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.361G>A	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360971	0.41801	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239;ENST00000422619	T;T;T;T;T	0.44482	2.7;2.7;2.7;0.92;0.92	4.8	1.81	0.25067	.	0.499688	0.21974	N	0.066404	T	0.16300	0.0392	N	0.11427	0.14	0.32298	N	0.565388	B;B	0.32203	0.319;0.36	B;B	0.22386	0.027;0.039	T	0.21793	-1.0235	10	0.15499	T	0.54	-53.0632	5.7541	0.18162	0.1528:0.679:0.0:0.1682	.	101;121	C9JNP0;Q9UK00	.;CC018_HUMAN	T	121;121;121;101;69	ENSP00000387606:A121T;ENSP00000349732:A121T;ENSP00000404913:A121T;ENSP00000414124:A101T;ENSP00000399129:A69T	ENSP00000349732:A121T	A	-	1	0	C3orf18	50573399	0.953000	0.32496	0.056000	0.19401	0.112000	0.19704	1.991000	0.40727	0.457000	0.26962	-0.254000	0.11334	GCC		0.632	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		24	28	0	0	0	1	0	24	28				
KCNN1	3780	broad.mit.edu	37	19	18092574	18092574	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18092574C>T	ENST00000222249.9	+	5	874	c.555C>T	c.(553-555)cgC>cgT	p.R185R		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	185					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCTGCGAGCGCGTGTTCCTCA	0.662																																						ENST00000601725.1																			0																				31.0	32.0	32.0					19																	18092574		2157	4237	6394	SO:0001819	synonymous_variant	0							g.chr19:18092574C>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.555C>T	19.37:g.18092574C>T														0	190	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37																																																																																						0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		11	20	0	0	0	1	0	11	20				
COL4A5	1287	broad.mit.edu	37	X	107849988	107849988	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:107849988C>T	ENST00000361603.2	+	29	2505	c.2261C>T	c.(2260-2262)gCa>gTa	p.A754V	COL4A5_ENST00000328300.6_Missense_Mutation_p.A754V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	754	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGATTTGCATTACCTGGG	0.493									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(2260-2262)gCa>gTa		collagen, type IV, alpha 5							148.0	119.0	129.0					X																	107849988		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107849988C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2261C>T	X.37:g.107849988C>T	ENSP00000354505:p.Ala754Val					COL4A5_ENST00000361603.2_Missense_Mutation_p.A754V	p.A754V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			29	2505	+			754			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.2261C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703661	0.48412	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93366	-2.84;-3.21	5.61	2.74	0.32292	.	0.182425	0.47455	D	0.000221	D	0.86510	0.5950	N	0.14661	0.345	0.27331	N	0.956783	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.006;0.009;0.006	T	0.71126	-0.4683	10	0.30078	T	0.28	.	15.7262	0.77763	0.0:0.3909:0.6091:0.0	.	754;362;754	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	V	754	ENSP00000331902:A754V;ENSP00000354505:A754V	ENSP00000331902:A754V	A	+	2	0	COL4A5	107736644	1.000000	0.71417	0.490000	0.27465	0.793000	0.44817	4.388000	0.59633	0.137000	0.18759	-0.216000	0.12614	GCA		0.493	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			38	7	0	0	0	1	0	38	7				
KRT37	8688	broad.mit.edu	37	17	39578560	39578560	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39578560T>C	ENST00000225550.3	-	4	858	c.859A>G	c.(859-861)Aac>Gac	p.N287D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	287	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCTGGTGGTTGGTCTCCACC	0.592																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(859-861)Aac>Gac		keratin 37							188.0	163.0	171.0					17																	39578560		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578560T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.859A>G	17.37:g.39578560T>C	ENSP00000225550:p.Asn287Asp					AC003958.2_ENST00000432258.1_RNA	p.N287D	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			4	858	-		Breast(137;0.000496)	287			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.859A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.517043	0.85495	.	.	ENSG00000108417	ENST00000225550	D	0.90069	-2.61	4.83	4.83	0.62350	Filament (1);	0.234396	0.29676	N	0.011492	D	0.95601	0.8570	H	0.99609	4.655	0.33331	D	0.568545	P	0.48834	0.916	P	0.49085	0.6	D	0.99906	1.1182	10	0.87932	D	0	.	13.5746	0.61866	0.0:0.0:0.0:1.0	.	287	O76014	KRT37_HUMAN	D	287	ENSP00000225550:N287D	ENSP00000225550:N287D	N	-	1	0	KRT37	36832086	1.000000	0.71417	0.841000	0.33234	0.816000	0.46133	3.424000	0.52764	1.800000	0.52685	0.533000	0.62120	AAC		0.592	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		13	76	0	0	0	1	0	13	76				
COG1	9382	broad.mit.edu	37	17	71193077	71193077	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:71193077G>A	ENST00000299886.4	+	3	679	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	200					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCTCAAATGCCAAGGTGTG	0.488																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(598-600)tGc>tAc		component of oligomeric golgi complex 1							78.0	78.0	78.0					17																	71193077		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193077G>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.599G>A	17.37:g.71193077G>A	ENSP00000299886:p.Cys200Tyr						p.C200Y	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	679	+			200					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.599G>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411808	0.25465	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22945	1.93;1.93	5.55	4.58	0.56647	.	0.165528	0.56097	D	0.000040	T	0.26304	0.0642	L	0.36672	1.1	0.42493	D	0.992905	D;P;D	0.53151	0.958;0.943;0.958	P;B;P	0.47827	0.558;0.423;0.558	T	0.02958	-1.1089	10	0.62326	D	0.03	-13.9151	10.8588	0.46815	0.0721:0.1985:0.7294:0.0	.	200;200;200	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	Y	200	ENSP00000400111:C200Y;ENSP00000299886:C200Y	ENSP00000299886:C200Y	C	+	2	0	COG1	68704672	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	4.432000	0.59922	1.340000	0.45581	0.655000	0.94253	TGC		0.488	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			10	25	0	0	0	1	0	10	25				
DNAH3	55567	broad.mit.edu	37	16	20975040	20975040	+	Missense_Mutation	SNP	G	G	A	rs148148954	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20975040G>A	ENST00000261383.3	-	53	10165	c.10166C>T	c.(10165-10167)aCg>aTg	p.T3389M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3389					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACCTCCTCCGTAATTTCCTT	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		22962	0.001		0.001	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10165-10167)aCg>aTg		dynein, axonemal, heavy chain 3		G	MET/THR	2,4400	4.2+/-10.8	0,2,2199	90.0	74.0	79.0		10166	2.3	0.0	16	dbSNP_134	79	0,8600		0,0,4300	yes	missense	DNAH3	NM_017539.1	81	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	3389/4117	20975040	2,13000	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975040G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10166C>T	16.37:g.20975040G>A	ENSP00000261383:p.Thr3389Met					DNAH3_ENST00000415178.1_3'UTR	p.T3389M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10165	-			3389					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10166C>T	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.225	-0.158610	0.06544	4.54E-4	0.0	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.78	2.27	0.28462	.	0.487112	0.21765	N	0.069447	T	0.39655	0.1086	L	0.42529	1.33	0.09310	N	0.999996	P	0.42556	0.783	B	0.37346	0.247	T	0.28106	-1.0054	10	0.72032	D	0.01	.	7.1392	0.25546	0.0:0.1312:0.1291:0.7396	.	3389	Q8TD57	DYH3_HUMAN	M	3389	ENSP00000261383:T3389M	ENSP00000261383:T3389M	T	-	2	0	DNAH3	20882541	0.051000	0.20477	0.001000	0.08648	0.063000	0.16089	2.149000	0.42244	0.115000	0.18071	-0.457000	0.05445	ACG		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	37	0	0	0	1	0	7	37				
CAD	790	broad.mit.edu	37	2	27447925	27447925	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27447925C>T	ENST00000403525.1	+	11	1578	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	CAD_ENST00000264705.4_Silent_p.G478G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTGGGGGCCAGACTGCTC	0.582																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1432-1434)ggC>ggT		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						90.0	82.0	85.0					2																	27447925		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447925C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1434C>T	2.37:g.27447925C>T						CAD_ENST00000403525.1_Silent_p.G478G	p.G478G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			11	1596	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		478			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.1434C>T																																																																																					0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			14	16	0	0	0	1	0	14	16				
NCKAP5L	57701	broad.mit.edu	37	12	50196894	50196894	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:50196894G>A	ENST00000335999.6	-	4	379	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	NCKAP5L_ENST00000480927.1_5'Flank	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	56								p.R60C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TCCAGACAGCGCTCATAAGTC	0.607																																						ENST00000335999.6																			1	Substitution - Missense(1)	p.R60C(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(178-180)Cgc>Tgc		NCK-associated protein 5-like							78.0	87.0	84.0					12																	50196894		2030	4169	6199	SO:0001583	missense	57701							g.chr12:50196894G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.178C>T	12.37:g.50196894G>A	ENSP00000337998:p.Arg60Cys						p.R60C	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			4	379	-			56					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.178C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848630	0.91277	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.60424	0.19	6.17	6.17	0.99709	.	.	.	.	.	T	0.72795	0.3505	L	0.47190	1.495	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.72364	-0.4316	9	0.87932	D	0	-8.8996	19.6509	0.95805	0.0:0.0:1.0:0.0	.	56	E2QRB5	.	C	60;56	ENSP00000337998:R60C	ENSP00000337998:R60C	R	-	1	0	NCKAP5L	48483161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.198000	0.51035	2.941000	0.99782	0.655000	0.94253	CGC		0.607	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		7	41	0	0	0	1	0	7	41				
LRP1	4035	broad.mit.edu	37	12	57598454	57598454	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57598454G>A	ENST00000243077.3	+	72	11582	c.11116G>A	c.(11116-11118)Gac>Aac	p.D3706N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3706	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGCAAGAATGACCGCGTCTG	0.627																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11116-11118)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						89.0	89.0	89.0					12																	57598454		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598454G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11116G>A	12.37:g.57598454G>A	ENSP00000243077:p.Asp3706Asn						p.D3706N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	72	11582	+			3706			LDL-receptor class A 30.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11116G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473820	0.26423	.	.	ENSG00000123384	ENST00000243077	T	0.57907	0.37	5.28	4.39	0.52855	.	0.231263	0.34200	N	0.004162	T	0.27798	0.0684	N	0.04335	-0.225	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.09818	-1.0657	10	0.09590	T	0.72	.	13.2386	0.59983	0.0781:0.0:0.9219:0.0	.	3706	Q07954	LRP1_HUMAN	N	3706	ENSP00000243077:D3706N	ENSP00000243077:D3706N	D	+	1	0	LRP1	55884721	0.999000	0.42202	0.944000	0.38274	0.902000	0.53008	2.792000	0.47837	1.453000	0.47775	0.563000	0.77884	GAC		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		36	36	0	0	0	1	0	36	36				
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17757938G>T	ENST00000379472.3	+	1	419	c.389G>T	c.(388-390)aGc>aTc	p.S130I	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGGACAACAGCGCCGACGAC	0.711																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(388-390)aGc>aTc		potassium voltage-gated channel, Shaw-related subfamily, member 1							13.0	16.0	15.0					11																	17757938		2187	4284	6471	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757938G>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.389G>T	11.37:g.17757938G>T	ENSP00000368785:p.Ser130Ile					KCNC1_ENST00000265969.6_Missense_Mutation_p.S130I	p.S130I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	419	+			130					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.389G>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280287	0.40294	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97138	-4.26;-4.25	5.18	4.26	0.50523	.	5.062450	0.00744	N	0.001033	D	0.93923	0.8055	N	0.14661	0.345	0.38376	D	0.945004	B;B	0.16603	0.004;0.018	B;B	0.15484	0.004;0.013	T	0.76380	-0.2980	10	0.42905	T	0.14	.	11.7462	0.51821	0.0822:0.0:0.9178:0.0	.	130;130	Q3KNS8;P48547	.;KCNC1_HUMAN	I	130	ENSP00000265969:S130I;ENSP00000368785:S130I	ENSP00000265969:S130I	S	+	2	0	KCNC1	17714514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.591000	0.61019	1.173000	0.42796	0.561000	0.74099	AGC		0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		6	15	1	0	0.0215528	1	0.0217053	6	15				
CBX8	57332	broad.mit.edu	37	17	77768741	77768741	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77768741C>T	ENST00000269385.4	-	5	980	c.863G>A	c.(862-864)aGg>aAg	p.R288K	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	288					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAAGGCAGCCCTGTGCTTTAT	0.662																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(862-864)aGg>aAg		chromobox homolog 8							29.0	29.0	29.0					17																	77768741		2200	4298	6498	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768741C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.863G>A	17.37:g.77768741C>T	ENSP00000269385:p.Arg288Lys						p.R288K	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	980	-			288					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.863G>A	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	c	13.93	2.384631	0.42308	.	.	ENSG00000141570	ENST00000269385;ENST00000427800	T	0.48522	0.81	4.34	4.34	0.51931	.	0.670379	0.15370	N	0.265893	T	0.56187	0.1968	L	0.42245	1.32	0.44030	D	0.996754	D	0.58970	0.984	D	0.68192	0.956	T	0.46289	-0.9202	10	0.02654	T	1	-22.871	17.09	0.86619	0.0:1.0:0.0:0.0	.	288	Q9HC52	CBX8_HUMAN	K	288;263	ENSP00000269385:R288K	ENSP00000269385:R288K	R	-	2	0	CBX8	75383336	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.988000	0.49386	2.430000	0.82344	0.450000	0.29827	AGG		0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		5	4	0	0	0	1	0	5	4				
TLE1	7088	broad.mit.edu	37	9	84226744	84226744	+	Silent	SNP	C	C	T	rs372238712	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:84226744C>T	ENST00000376499.3	-	13	2258	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S	TLE1_ENST00000376472.1_Silent_p.S73S|TLE1_ENST00000464999.1_5'Flank|TLE1_ENST00000376484.1_Silent_p.S73S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	398	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCATCTGGGGCGACATGTTGT	0.687													C|||	47	0.00938498	0.0008	0.0	5008	,	,		14132	0.0		0.0	False		,,,				2504	0.047				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1192-1194)tcG>tcA		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							29.0	33.0	31.0					9																	84226744		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226744C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1194G>A	9.37:g.84226744C>T						TLE1_ENST00000376484.1_Silent_p.S73S|TLE1_ENST00000376472.1_Silent_p.S73S	p.S398S	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2258	-			398			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1194G>A	CCDS6661.1																																																																																				0.687	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		6	14	0	0	0	1	0	6	14				
CTSS	1520	broad.mit.edu	37	1	150730372	150730372	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:150730372G>A	ENST00000368985.3	-	3	471	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	CTSS_ENST00000448301.2_Missense_Mutation_p.H71Y|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	71					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCGTATGAGTGCATTCCCATT	0.418																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(211-213)Cac>Tac		cathepsin S							130.0	112.0	118.0					1																	150730372		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150730372G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.211C>T	1.37:g.150730372G>A	ENSP00000357981:p.His71Tyr					CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.H71Y	p.H71Y	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	471	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		71					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.211C>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507525	0.85282	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;D	0.86030	-2.06;-2.06	5.46	5.46	0.80206	Proteinase inhibitor I29, cathepsin propeptide (2);	0.095678	0.64402	D	0.000001	D	0.92364	0.7577	M	0.87617	2.895	0.49798	D	0.99982	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	D	0.92874	0.6317	10	0.59425	D	0.04	.	16.8666	0.86030	0.0:0.0:1.0:0.0	.	71;71	B4DWC9;P25774	.;CATS_HUMAN	Y	71	ENSP00000408414:H71Y;ENSP00000357981:H71Y	ENSP00000357981:H71Y	H	-	1	0	CTSS	148996996	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.625000	0.74248	2.578000	0.87016	0.306000	0.20318	CAC		0.418	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		16	24	0	0	0	1	0	16	24				
ATP7B	540	broad.mit.edu	37	13	52548294	52548294	+	Silent	SNP	G	G	A	rs371971772		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:52548294G>A	ENST00000242839.4	-	2	1218	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.V354V|ATP7B_ENST00000448424.2_Silent_p.V354V|ATP7B_ENST00000418097.2_Silent_p.V354V|ATP7B_ENST00000400370.3_Silent_p.V354V|ATP7B_ENST00000542656.1_Silent_p.V322V|ATP7B_ENST00000400366.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	354					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGTGCCCTGGACCTGGTTTC	0.537									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1060-1062)gtC>gtT		ATPase, Cu++ transporting, beta polypeptide							94.0	92.0	93.0					13																	52548294		1983	4160	6143	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548294G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1062C>T	13.37:g.52548294G>A						ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.V354V|ATP7B_ENST00000448424.2_Silent_p.V354V|ATP7B_ENST00000542656.1_Silent_p.V322V|ATP7B_ENST00000344297.5_Silent_p.V354V|ATP7B_ENST00000400370.3_Silent_p.V354V|ATP7B_ENST00000400366.3_Intron	p.V354V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1218	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	354					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1062C>T	CCDS41892.1																																																																																				0.537	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	56	0	0	0	1	0	8	56				
NABP2	79035	broad.mit.edu	37	12	56619180	56619180	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:56619180G>A	ENST00000380198.2	+	2	601	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	NABP2_ENST00000341463.5_Missense_Mutation_p.G35R|NABP2_ENST00000267023.4_Missense_Mutation_p.G35R			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	35					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										GACAAAGGACGGGCATGAGGT	0.502																																						ENST00000380198.2																			0											c.(103-105)Ggg>Agg		nucleic acid binding protein 2							158.0	136.0	144.0					12																	56619180		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56619180G>A	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.103G>A	12.37:g.56619180G>A	ENSP00000369545:p.Gly35Arg					NABP2_ENST00000341463.5_Missense_Mutation_p.G35R|NABP2_ENST00000267023.4_Missense_Mutation_p.G35R	p.G35R							2	601	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.103G>A	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117669	0.94385	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.59	4.59	0.56863	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.64402	D	0.000002	T	0.66597	0.2805	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.995	T	0.75141	-0.3422	10	0.87932	D	0	-1.9473	16.6164	0.84917	0.0:0.0:1.0:0.0	.	35;35;35	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	R	35	ENSP00000413902:G35R;ENSP00000408616:G35R;ENSP00000267023:G35R;ENSP00000369545:G35R;ENSP00000368862:G35R	ENSP00000267023:G35R	G	+	1	0	OBFC2B	54905447	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.466000	0.97665	2.283000	0.76528	0.456000	0.33151	GGG		0.502	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		30	43	0	0	0	1	0	30	43				
COL16A1	1307	broad.mit.edu	37	1	32127982	32127982	+	Missense_Mutation	SNP	C	C	T	rs542852379		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32127982C>T	ENST00000373672.3	-	58	4150	c.3634G>A	c.(3634-3636)Gcc>Acc	p.A1212T	RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.A1212T|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1212	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAGACCGGCGGGGCCCTGG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14219	0.0		0.0	False		,,,				2504	0.001				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3634-3636)Gcc>Acc		collagen, type XVI, alpha 1							34.0	37.0	36.0					1																	32127982		1922	4124	6046	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32127982C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3634G>A	1.37:g.32127982C>T	ENSP00000362776:p.Ala1212Thr					COL16A1_ENST00000271069.6_Missense_Mutation_p.A1212T	p.A1212T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	58	4150	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1212			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3634G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832734	0.16820	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93604	-3.21;-3.21;-3.25	4.82	2.93	0.34026	.	0.213234	0.40818	N	0.001008	D	0.82889	0.5135	N	0.20766	0.605	0.23113	N	0.998274	B;B	0.27117	0.105;0.168	B;B	0.16722	0.007;0.016	T	0.67569	-0.5637	10	0.12103	T	0.63	.	5.9864	0.19436	0.0:0.5694:0.2583:0.1723	.	1212;1210	Q07092;Q07092-2	COGA1_HUMAN;.	T	1212;1212;69	ENSP00000362776:A1212T;ENSP00000271069:A1212T;ENSP00000390281:A69T	ENSP00000271069:A1212T	A	-	1	0	COL16A1	31900569	0.985000	0.35326	0.017000	0.16124	0.175000	0.22909	2.468000	0.45102	0.558000	0.29135	0.462000	0.41574	GCC		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		4	3	0	0	0	1	0	4	3				
VPS41	27072	broad.mit.edu	37	7	38805233	38805233	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:38805233C>T	ENST00000310301.4	-	16	1330	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	VPS41_ENST00000395969.2_Missense_Mutation_p.A401T	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	426					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CAGAGTGCTGCATTTTTCCCA	0.318																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1276-1278)Gca>Aca		vacuolar protein sorting 41 homolog (S. cerevisiae)							64.0	68.0	67.0					7																	38805233		2203	4297	6500	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38805233C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1276G>A	7.37:g.38805233C>T	ENSP00000309457:p.Ala426Thr					VPS41_ENST00000395969.2_Missense_Mutation_p.A401T	p.A426T	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			16	1330	-			426					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1276G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990530	0.35131	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18960	2.18;2.19	5.47	1.69	0.24217	.	0.202993	0.51477	N	0.000089	T	0.11024	0.0269	N	0.24115	0.695	0.30607	N	0.759857	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26292	-1.0107	10	0.16420	T	0.52	-5.165	7.0794	0.25223	0.0:0.448:0.0:0.552	.	426;401;426	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	T	426;401	ENSP00000309457:A426T;ENSP00000379297:A401T	ENSP00000309457:A426T	A	-	1	0	VPS41	38771758	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.501000	0.45389	0.296000	0.22592	0.460000	0.39030	GCA		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			6	36	0	0	0	1	0	6	36				
IQGAP2	10788	broad.mit.edu	37	5	75989260	75989260	+	Missense_Mutation	SNP	C	C	T	rs148122303	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:75989260C>T	ENST00000274364.6	+	31	4283	c.3986C>T	c.(3985-3987)gCg>gTg	p.A1329V	IQGAP2_ENST00000502745.1_Missense_Mutation_p.A825V|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A831V|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A825V|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCAGCAACTGCGCAACAGGTA	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		19012	0.0		0.002	False		,,,				2504	0.0					ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3985-3987)gCg>gTg		IQ motif containing GTPase activating protein 2		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	83.0	85.0		3986	-0.9	0.0	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	IQGAP2	NM_006633.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1329/1576	75989260	1,13005	2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75989260C>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3986C>T	5.37:g.75989260C>T	ENSP00000274364:p.Ala1329Val					IQGAP2_ENST00000396234.3_Missense_Mutation_p.A825V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.A825V|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A831V	p.A1329V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	31	4283	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1329					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.3986C>T	CCDS34188.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.70	1.715619	0.30413	2.27E-4	0.0	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.97	-0.95	0.10372	.	1.162360	0.06359	N	0.711243	T	0.27697	0.0681	L	0.33485	1.01	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.10450	0.005;0.005;0.002	T	0.21211	-1.0252	10	0.29301	T	0.29	0.4173	3.2081	0.06672	0.5214:0.1994:0.1541:0.125	.	831;825;1329	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	V	1329;831;1279;825;825	ENSP00000274364:A1329V;ENSP00000442313:A831V;ENSP00000421097:A1279V;ENSP00000379535:A825V;ENSP00000426027:A825V	ENSP00000274364:A1329V	A	+	2	0	IQGAP2	76025016	0.000000	0.05858	0.001000	0.08648	0.876000	0.50452	0.536000	0.23129	-0.186000	0.10533	0.655000	0.94253	GCG		0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		5	49	0	0	0	1	0	5	49				
SPTBN5	51332	broad.mit.edu	37	15	42154447	42154447	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42154447C>T	ENST00000320955.6	-	44	7656	c.7429G>A	c.(7429-7431)Gca>Aca	p.A2477T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2477					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGCATTGCCTGGAGTTTC	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7429-7431)Gca>Aca		spectrin, beta, non-erythrocytic 5							39.0	42.0	41.0					15																	42154447		2071	4229	6300	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42154447C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7429G>A	15.37:g.42154447C>T	ENSP00000317790:p.Ala2477Thr						p.A2477T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	44	7656	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2477						Missense_Mutation	SNP	ENST00000320955.6	37	c.7429G>A		.	.	.	.	.	.	.	.	.	.	.	11.05	1.526131	0.27299	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.75	1.29	0.21616	.	0.438834	0.20096	N	0.099335	T	0.29556	0.0737	L	0.39898	1.24	0.09310	N	1	B	0.27166	0.17	B	0.26310	0.068	T	0.09907	-1.0653	10	0.18710	T	0.47	.	2.7534	0.05287	0.2292:0.3469:0.0:0.4239	.	2477	Q9NRC6	SPTN5_HUMAN	T	2477	ENSP00000317790:A2477T	ENSP00000317790:A2477T	A	-	1	0	SPTBN5	39941739	0.002000	0.14202	0.243000	0.24186	0.312000	0.27988	0.078000	0.14761	0.409000	0.25649	0.467000	0.42956	GCA		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		17	33	0	0	0	1	0	17	33				
CELA2A	63036	broad.mit.edu	37	1	15783259	15783259	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15783259C>T	ENST00000359621.4	+	1	36	c.11C>T	c.(10-12)aCg>aTg	p.T4M	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	4						extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ATGATAAGGACGCTGCTGCTG	0.542																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(10-12)aCg>aTg		chymotrypsin-like elastase family, member 2A							129.0	109.0	116.0					1																	15783259		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15783259C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.11C>T	1.37:g.15783259C>T	ENSP00000352639:p.Thr4Met					CELA2A_ENST00000497590.1_3'UTR	p.T4M	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			1	36	+			4					B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.11C>T	CCDS157.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223032	0.22457	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88124	-2.34	4.13	-0.695	0.11291	.	1.451420	0.05067	U	0.481049	T	0.77398	0.4124	N	0.21373	0.66	0.09310	N	1	P	0.46987	0.888	B	0.39503	0.301	T	0.68228	-0.5464	10	0.48119	T	0.1	.	6.7951	0.23721	0.0:0.3873:0.0:0.6127	.	4	P08217	CEL2A_HUMAN	M	4	ENSP00000352639:T4M	ENSP00000352639:T4M	T	+	2	0	CELA2A	15655846	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.051000	0.11885	-0.008000	0.14320	-0.156000	0.13503	ACG		0.542	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		20	22	0	0	0	1	0	20	22				
SPATA31A6	389730	broad.mit.edu	37	9	43627062	43627062	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43627062G>T	ENST00000332857.6	-	4	1653	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	542					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCAACAAAGGCCATTCAGG	0.483																																						ENST00000332857.6																			0											c.(1624-1626)cCt>cAt		SPATA31 subfamily A, member 6							6.0	7.0	6.0					9																	43627062		595	1504	2099	SO:0001583	missense	389730							g.chr9:43627062G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1625C>A	9.37:g.43627062G>T	ENSP00000329825:p.Pro542His						p.P542H	NM_001145196.1	NP_001138668.1					4	1653	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1625C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430926	0.04669	.	.	ENSG00000185775	ENST00000332857	T	0.07021	3.23	2.35	0.328	0.15918	.	0.584174	0.15689	N	0.249501	T	0.04679	0.0127	N	0.20685	0.6	0.09310	N	1	B	0.33044	0.395	B	0.31390	0.129	T	0.40553	-0.9557	10	0.33141	T	0.24	-3.9677	6.8931	0.24241	0.0:0.0:0.5069:0.493	.	542	Q5VVP1	F75A6_HUMAN	H	542	ENSP00000329825:P542H	ENSP00000329825:P542H	P	-	2	0	FAM75A6	43567058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.164000	0.09983	0.097000	0.17492	-0.932000	0.02703	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	254	1	0	0.000157383	1	0.000161063	6	254				
NRP1	8829	broad.mit.edu	37	10	33491899	33491899	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:33491899G>T	ENST00000265371.4	-	12	2309	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H	NRP1_ENST00000374875.1_Missense_Mutation_p.P414H|NRP1_ENST00000374823.5_Missense_Mutation_p.P595H|NRP1_ENST00000374867.2_Missense_Mutation_p.P595H|NRP1_ENST00000374822.4_Missense_Mutation_p.P595H|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000395995.1_Missense_Mutation_p.P595H			O14786	NRP1_HUMAN	neuropilin 1	595					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTTCCCGTTGGGAGTGGTCGG	0.498																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1783-1785)cCc>cAc		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						184.0	152.0	163.0					10																	33491899		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33491899G>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1784C>A	10.37:g.33491899G>T	ENSP00000265371:p.Pro595His					NRP1_ENST00000395995.1_Missense_Mutation_p.P595H|NRP1_ENST00000374823.5_Missense_Mutation_p.P595H|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000374822.4_Missense_Mutation_p.P595H|NRP1_ENST00000374867.2_Missense_Mutation_p.P595H	p.P595H			O14786	NRP1_HUMAN			12	2309	-			595					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1784C>A	CCDS7177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.846619|4.846619	0.91277|0.91277	.|.	.|.	ENSG00000099250|ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374828;ENST00000374814;ENST00000374822;ENST00000374823|ENST00000418675;ENST00000431894	D;D;D;D;D;D|.	0.94000|.	-2.18;-3.33;-2.18;-2.19;-2.54;-2.57|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.201131|0.201131	0.52532|0.52532	D|D	0.000065|0.000065	T|T	0.59487|0.59487	0.2197|0.2197	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;P;D;D;P;D;P|.	0.58268|.	0.959;0.902;0.982;0.97;0.736;0.959;0.736|.	P;P;P;P;P;P;P|.	0.52856|.	0.625;0.711;0.694;0.498;0.625;0.503;0.503|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|7	0.72032|0.72032	D|D	0.01|0.01	-20.8382|-20.8382	20.3311|20.3311	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	595;595;595;595;595;414;595|.	A8K9V7;Q5T7F0;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6|.	.;.;.;.;NRP1_HUMAN;.;.|.	H|T	595;414;595;595;18;66;595;595|9;27	ENSP00000265371:P595H;ENSP00000364009:P414H;ENSP00000364001:P595H;ENSP00000379317:P595H;ENSP00000363955:P595H;ENSP00000363956:P595H|.	ENSP00000265371:P595H|ENSP00000416147:P9T	P|P	-|-	2|1	0|0	NRP1|NRP1	33531905|33531905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.181000|7.181000	0.77682|0.77682	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.498	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			26	54	1	0	1.77063e-15	1	1.9385e-15	26	54				
USH1C	10083	broad.mit.edu	37	11	17531357	17531357	+	Intron	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:17531357G>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.P520H|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						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)			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						AGACACAGAAGGCGGGGGAGG	0.577																																						ENST00000005226.7																			0				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						c.(1558-1560)cCt>cAt		Usher syndrome 1C (autosomal recessive, severe)							25.0	32.0	29.0					11																	17531357		2200	4292	6492	SO:0001627	intron_variant	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.chr11:17531357G>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.1284+7590C>A	11.37:g.17531357G>T						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron	p.P520H	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1558	-			0			PDZ 3.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1559C>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021513	0.54576	.	.	ENSG00000006611	ENST00000005226	T	0.47177	0.85	4.98	4.98	0.66077	.	1.268720	0.05687	N	0.591474	T	0.63943	0.2554	.	.	.	0.36976	D	0.894047	D	0.63046	0.992	P	0.54499	0.754	T	0.57940	-0.7724	9	0.56958	D	0.05	.	15.1669	0.72837	0.0:0.0:1.0:0.0	.	520	Q7RTU8	.	H	520	ENSP00000005226:P520H	ENSP00000005226:P520H	P	-	2	0	USH1C	17487933	1.000000	0.71417	0.883000	0.34634	0.401000	0.30781	4.933000	0.63484	2.314000	0.78098	0.591000	0.81541	CCT		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		18	31	1	0	2.98393e-07	1	3.1252e-07	18	31				
PTPRZ1	5803	broad.mit.edu	37	7	121651338	121651338	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:121651338G>A	ENST00000393386.2	+	12	2649	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S	PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Silent_p.S746S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	746					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGTATACTCGCAGACAACCC	0.473																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2236-2238)tcG>tcA		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							159.0	144.0	149.0					7																	121651338		2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651338G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2238G>A	7.37:g.121651338G>A						PTPRZ1_ENST00000483028.1_3'UTR|PTPRZ1_ENST00000449182.1_Silent_p.S746S	p.S746S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2649	+			746					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.2238G>A	CCDS34740.1																																																																																				0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	58	0	0	0	1	0	4	58				
FARP2	9855	broad.mit.edu	37	2	242403384	242403384	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:242403384C>T	ENST00000264042.3	+	17	2052	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	FARP2_ENST00000545004.1_Missense_Mutation_p.R628C|FARP2_ENST00000373287.4_Missense_Mutation_p.R628C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	628	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGAACATGCGCCAGTTAAA	0.502																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1882-1884)Cgc>Tgc		FERM, RhoGEF and pleckstrin domain protein 2							117.0	88.0	98.0					2																	242403384		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242403384C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1882C>T	2.37:g.242403384C>T	ENSP00000264042:p.Arg628Cys					FARP2_ENST00000545004.1_Missense_Mutation_p.R628C|FARP2_ENST00000373287.4_Missense_Mutation_p.R628C	p.R628C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	17	2052	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	628			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1882C>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.743933	0.15642	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.64260	-0.09;-0.06;-0.06	5.1	4.22	0.49857	Dbl homology (DH) domain (5);	0.757438	0.12907	N	0.429254	T	0.59266	0.2181	N	0.17474	0.49	0.35261	D	0.779587	B;D;B	0.65815	0.017;0.995;0.022	B;P;B	0.53861	0.005;0.736;0.008	T	0.66858	-0.5817	10	0.46703	T	0.11	.	14.1511	0.65384	0.0:0.9268:0.0:0.0732	.	628;628;628	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	628	ENSP00000264042:R628C;ENSP00000443876:R628C;ENSP00000362384:R628C	ENSP00000264042:R628C	R	+	1	0	FARP2	242052057	0.435000	0.25577	0.859000	0.33776	0.139000	0.21198	0.924000	0.28777	1.299000	0.44798	-0.126000	0.14955	CGC		0.502	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			5	11	0	0	0	1	0	5	11				
AP4E1	23431	broad.mit.edu	37	15	51289742	51289742	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:51289742G>A	ENST00000261842.5	+	18	2672	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E781K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	856					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTTGGATTCTGAGTCACTCAC	0.358																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2566-2568)Gag>Aag		adaptor-related protein complex 4, epsilon 1 subunit							112.0	111.0	112.0					15																	51289742		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289742G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2566G>A	15.37:g.51289742G>A	ENSP00000261842:p.Glu856Lys					AP4E1_ENST00000560508.1_Missense_Mutation_p.E781K	p.E856K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2672	+			856					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2566G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939051	0.34189	.	.	ENSG00000081014	ENST00000261842	T	0.19105	2.17	5.47	3.61	0.41365	.	0.753542	0.12698	N	0.446618	T	0.13286	0.0322	N	0.19112	0.55	0.42364	D	0.992424	B	0.12630	0.006	B	0.06405	0.002	T	0.06789	-1.0807	10	0.37606	T	0.19	-3.9941	7.8227	0.29296	0.1527:0.1428:0.7044:0.0	.	856	Q9UPM8	AP4E1_HUMAN	K	856	ENSP00000261842:E856K	ENSP00000261842:E856K	E	+	1	0	AP4E1	49077034	1.000000	0.71417	0.927000	0.36925	0.656000	0.38851	2.702000	0.47102	0.687000	0.31509	-0.363000	0.07495	GAG		0.358	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			38	41	0	0	0	1	0	38	41				
GDAP2	54834	broad.mit.edu	37	1	118441732	118441732	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:118441732G>T	ENST00000369443.5	-	7	992	c.743C>A	c.(742-744)cCt>cAt	p.P248H	GDAP2_ENST00000369442.3_Missense_Mutation_p.P248H|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	248					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGGTACCACAGGCTCCCCTTC	0.448																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(742-744)cCt>cAt		ganglioside induced differentiation associated protein 2							169.0	159.0	163.0					1																	118441732		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118441732G>T	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.743C>A	1.37:g.118441732G>T	ENSP00000358451:p.Pro248His					GDAP2_ENST00000369442.3_Missense_Mutation_p.P248H|GDAP2_ENST00000464026.1_5'UTR	p.P248H	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	992	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	248					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.743C>A	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670124	0.88348	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.22743	1.94;1.94	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.49698	-0.8912	10	0.87932	D	0	-14.7707	19.3238	0.94253	0.0:0.0:1.0:0.0	.	248;248	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	H	248	ENSP00000358451:P248H;ENSP00000358450:P248H	ENSP00000358450:P248H	P	-	2	0	GDAP2	118243255	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.046000	0.93817	2.555000	0.86185	0.585000	0.79938	CCT		0.448	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		45	80	1	0	8.04919e-23	1	8.95685e-23	45	80				
PLAT	5327	broad.mit.edu	37	8	42040326	42040326	+	Silent	SNP	C	C	T	rs146917237	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42040326C>T	ENST00000220809.4	-	8	970	c.714G>A	c.(712-714)ccG>ccA	p.P238P	PLAT_ENST00000270189.6_Silent_p.P238P|PLAT_ENST00000429089.2_Silent_p.P238P|PLAT_ENST00000524009.1_Silent_p.P149P|PLAT_ENST00000352041.3_Silent_p.P192P|PLAT_ENST00000429710.2_Silent_p.P112P|PLAT_ENST00000519510.1_Silent_p.P175P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	238	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGGAATTCCACGGGAGGCAGG	0.547																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(712-714)ccG>ccA		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	C	,	2,4404	4.2+/-10.8	0,2,2201	116.0	115.0	116.0		714,576	-1.5	0.1	8	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLAT	NM_000930.3,NM_033011.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	238/563,192/517	42040326	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42040326C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.714G>A	8.37:g.42040326C>T						PLAT_ENST00000352041.3_Silent_p.P192P|PLAT_ENST00000429710.2_Silent_p.P112P|PLAT_ENST00000429089.2_Silent_p.P238P|PLAT_ENST00000524009.1_Silent_p.P149P|PLAT_ENST00000519510.1_Silent_p.P175P|PLAT_ENST00000270189.6_Silent_p.P238P	p.P238P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	970	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	238			Kringle 2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.714G>A	CCDS6126.1																																																																																				0.547	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		37	54	0	0	0	1	0	37	54				
ZNF804A	91752	broad.mit.edu	37	2	185803052	185803052	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:185803052G>A	ENST00000302277.6	+	4	3523	c.2929G>A	c.(2929-2931)Gag>Aag	p.E977K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	977							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAACTGGCTGAGGCCCTTCC	0.398																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2929-2931)Gag>Aag		zinc finger protein 804A							100.0	96.0	97.0					2																	185803052		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803052G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2929G>A	2.37:g.185803052G>A	ENSP00000303252:p.Glu977Lys						p.E977K	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3523	+			977					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2929G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162742	0.38217	.	.	ENSG00000170396	ENST00000302277	T	0.08370	3.1	5.14	4.25	0.50352	.	0.118731	0.37348	N	0.002130	T	0.19805	0.0476	L	0.57536	1.79	0.33388	D	0.575729	D	0.52996	0.957	P	0.56865	0.808	T	0.21211	-1.0252	10	0.66056	D	0.02	-10.1567	13.0638	0.59022	0.0:0.1614:0.8386:0.0	.	977	Q7Z570	Z804A_HUMAN	K	977	ENSP00000303252:E977K	ENSP00000303252:E977K	E	+	1	0	ZNF804A	185511297	0.997000	0.39634	0.990000	0.47175	0.473000	0.32948	2.786000	0.47790	1.119000	0.41883	0.467000	0.42956	GAG		0.398	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		38	62	0	0	0	1	0	38	62				
TMEM168	64418	broad.mit.edu	37	7	112424649	112424649	+	Missense_Mutation	SNP	C	C	T	rs374434489		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112424649C>T	ENST00000312814.6	-	2	792	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	TMEM168_ENST00000454074.1_Missense_Mutation_p.A78T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	78						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGTATGCTGGCGATTCCAAGA	0.343																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(232-234)Gcc>Acc		transmembrane protein 168		C	THR/ALA	0,4406		0,0,2203	58.0	60.0	59.0		232	5.8	1.0	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM168	NM_022484.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	78/698	112424649	1,13005	2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424649C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.232G>A	7.37:g.112424649C>T	ENSP00000323068:p.Ala78Thr					TMEM168_ENST00000454074.1_Missense_Mutation_p.A78T	p.A78T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	792	-			78					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.232G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677328	0.88445	0.0	1.16E-4	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78086	-0.2341	9	0.66056	D	0.02	-25.724	20.1535	0.98095	0.0:1.0:0.0:0.0	.	78	Q9H0V1	TM168_HUMAN	T	78	.	ENSP00000323068:A78T	A	-	1	0	TMEM168	112211885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.764000	0.94973	0.650000	0.86243	GCC		0.343	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		23	40	0	0	0	1	0	23	40				
LPAR3	23566	broad.mit.edu	37	1	85331569	85331569	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:85331569C>T	ENST00000440886.1	-	1	273	c.235G>A	c.(235-237)Gct>Act	p.A79T	LPAR3_ENST00000370611.3_Missense_Mutation_p.A79T|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	79					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.A79T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCAATTCCAGCGAAGAAATCG	0.438																																						ENST00000440886.1																			1	Substitution - Missense(1)	p.A79T(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(235-237)Gct>Act		lysophosphatidic acid receptor 3							99.0	105.0	103.0					1																	85331569		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331569C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.235G>A	1.37:g.85331569C>T	ENSP00000395389:p.Ala79Thr					LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.A79T	p.A79T			Q9UBY5	LPAR3_HUMAN			1	273	-			79					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.235G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226145	0.95173	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.71934	-0.61;-0.61	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81331	-0.0981	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	79	Q9UBY5	LPAR3_HUMAN	T	79	ENSP00000395389:A79T;ENSP00000359643:A79T	ENSP00000359643:A79T	A	-	1	0	LPAR3	85104157	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.943000	0.70211	2.824000	0.97209	0.655000	0.94253	GCT		0.438	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		46	71	0	0	0	1	0	46	71				
COL24A1	255631	broad.mit.edu	37	1	86590931	86590931	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:86590931G>A	ENST00000370571.2	-	3	1454	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T363I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	363					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTCTCTTTGGTATTCATTTT	0.398																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1087-1089)aCc>aTc		collagen, type XXIV, alpha 1							156.0	136.0	143.0					1																	86590931		1926	4125	6051	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590931G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1088C>T	1.37:g.86590931G>A	ENSP00000359603:p.Thr363Ile					COL24A1_ENST00000436319.1_Missense_Mutation_p.T363I	p.T363I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1454	-			363					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1088C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.065	-1.215913	0.01542	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17370	2.28;2.28	5.45	0.133	0.14766	.	1.027830	0.07781	N	0.953341	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.14023	0.01;0.005	T	0.46345	-0.9198	10	0.35671	T	0.21	.	2.087	0.03648	0.1612:0.2659:0.373:0.1999	.	363;363	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	363	ENSP00000359603:T363I;ENSP00000392531:T363I	ENSP00000359603:T363I	T	-	2	0	COL24A1	86363519	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.074000	0.11450	-0.237000	0.09739	0.563000	0.77884	ACC		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		22	38	0	0	0	1	0	22	38				
GON4L	54856	broad.mit.edu	37	1	155721807	155721807	+	Silent	SNP	C	C	T	rs369594287		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155721807C>T	ENST00000368331.1	-	30	6465	c.6417G>A	c.(6415-6417)gtG>gtA	p.V2139V	GON4L_ENST00000437809.1_Silent_p.V2138V|GON4L_ENST00000271883.5_Silent_p.V2138V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2139					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTTGGCACACACCGTAGCTT	0.557																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(6412-6414)gtG>gtA		gon-4-like (C. elegans)							103.0	92.0	96.0					1																	155721807		2020	4173	6193	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155721807C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6417G>A	1.37:g.155721807C>T						GON4L_ENST00000271883.5_Silent_p.V2138V|GON4L_ENST00000368331.1_Silent_p.V2139V	p.V2138V			Q3T8J9	GON4L_HUMAN			30	6536	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		2139					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.6414G>A																																																																																					0.557	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		52	63	0	0	0	1	0	52	63				
ZZEF1	23140	broad.mit.edu	37	17	4008056	4008056	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4008056C>T	ENST00000381638.2	-	8	1568	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	482							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTCCTCTTGCGAGAGCAAAA	0.453																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1444-1446)Gca>Aca		zinc finger, ZZ-type with EF-hand domain 1							102.0	90.0	94.0					17																	4008056		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4008056C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1444G>A	17.37:g.4008056C>T	ENSP00000371051:p.Ala482Thr					ZZEF1_ENST00000574474.1_5'UTR	p.A482T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			8	1568	-			482					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1444G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694474	0.88830	.	.	ENSG00000074755	ENST00000381638	T	0.47177	0.85	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.63278	-0.6673	10	0.87932	D	0	-12.2909	20.0965	0.97849	0.0:1.0:0.0:0.0	.	482;482	O43149-3;O43149	.;ZZEF1_HUMAN	T	482	ENSP00000371051:A482T	ENSP00000371051:A482T	A	-	1	0	ZZEF1	3954805	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.379000	0.79691	2.824000	0.97209	0.655000	0.94253	GCA		0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		21	24	0	0	0	1	0	21	24				
DVL2	1856	broad.mit.edu	37	17	7132764	7132764	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7132764C>T	ENST00000005340.5	-	7	1032	c.750G>A	c.(748-750)acG>acA	p.T250T	DVL2_ENST00000575458.1_Silent_p.T244T|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	250					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TGAAGGATGACGTCTGTGGTG	0.572																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(748-750)acG>acA		dishevelled segment polarity protein 2							131.0	125.0	128.0					17																	7132764		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132764C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.750G>A	17.37:g.7132764C>T						DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T244T	p.T250T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			7	1032	-			250					D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.750G>A	CCDS11091.1																																																																																				0.572	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		17	43	0	0	0	1	0	17	43				
MIR197	406974	broad.mit.edu	37	1	110141517	110141517	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110141517C>A	ENST00000436416.1	+	0	1192				MIR197_ENST00000384976.2_RNA																							GCTCTGGGGGCTGTGCCGGGT	0.567																																						ENST00000384976.2																			0																				100.0	95.0	97.0					1																	110141517		1568	3582	5150			0							g.chr1:110141517C>A																													1.37:g.110141517C>A								NR_029583.1						0	3	+									RNA	SNP	ENST00000436416.1	37																																																																																						0.567	RP5-1160K1.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000032199.1			23	51	1	0	1.1804e-14	1	1.28927e-14	23	51				
PAPD5	64282	broad.mit.edu	37	16	50261831	50261831	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50261831G>A	ENST00000561678.1	+	10	1581	c.1507G>A	c.(1507-1509)Gta>Ata	p.V503I	PAPD5_ENST00000436909.3_Missense_Mutation_p.V613I|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.V534I			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	487	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GTCGCAAGATGTATCCTTGGA	0.517																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1600-1602)Gta>Ata		PAP associated domain containing 5							107.0	104.0	105.0					16																	50261831		1959	4149	6108	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50261831G>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1507G>A	16.37:g.50261831G>A	ENSP00000455837:p.Val503Ile					PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.V613I|PAPD5_ENST00000561678.1_Missense_Mutation_p.V503I	p.V534I			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	1600	+		all_cancers(37;0.0452)	487					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1600G>A		.	.	.	.	.	.	.	.	.	.	G	16.33	3.092002	0.55968	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.47869	0.83;0.83	6.17	6.17	0.99709	.	0.650048	0.16437	N	0.214465	T	0.27063	0.0663	N	0.08118	0	0.28301	N	0.923129	B;B	0.17852	0.024;0.0	B;B	0.12156	0.007;0.001	T	0.10636	-1.0621	10	0.25106	T	0.35	.	9.8193	0.40871	0.0689:0.0:0.7908:0.1402	.	613;487	B4DV38;Q8NDF8	.;PAPD5_HUMAN	I	613;534	ENSP00000396995:V613I;ENSP00000350054:V534I	ENSP00000350054:V534I	V	+	1	0	PAPD5	48819332	0.953000	0.32496	0.827000	0.32855	0.957000	0.61999	2.334000	0.43920	2.941000	0.99782	0.655000	0.94253	GTA		0.517	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		15	25	0	0	0	1	0	15	25				
ERGIC2	51290	broad.mit.edu	37	12	29494701	29494701	+	Missense_Mutation	SNP	C	C	T	rs372439091		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:29494701C>T	ENST00000360150.4	-	13	1112	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	346					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					AAGTCTGAAACGACAGCAAAT	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		17758	0.0		0.001	False		,,,				2504	0.0					ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1036-1038)cGt>cAt		ERGIC and golgi 2	Arsenic trioxide(DB01169)	C	HIS/ARG	0,3652		0,0,1826	89.0	88.0	88.0		1037	4.9	1.0	12		88	1,8151		0,1,4075	no	missense	ERGIC2	NM_016570.2	29	0,1,5901	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	346/378	29494701	1,11803	1826	4076	5902	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29494701C>T	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.1037G>A	12.37:g.29494701C>T	ENSP00000353270:p.Arg346His						p.R346H	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			13	1112	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		346					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.1037G>A	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.568456|4.568456	0.86439|0.86439	0.0|0.0	1.23E-4|1.23E-4	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023|ENST00000551467	.|.	.|.	.|.	5.76|5.76	4.88|4.88	0.63580|0.63580	.|.	0.049863|.	0.85682|.	D|.	0.000000|.	T|T	0.52677|0.52677	0.1749|0.1749	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	P|.	0.60609|.	0.877|.	T|T	0.49303|0.49303	-0.8954|-0.8954	9|5	0.59425|.	D|.	0.04|.	.|.	12.7758|12.7758	0.57445|0.57445	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	346|.	Q96RQ1|.	ERGI2_HUMAN|.	H|I	346;354|178	.|.	ENSP00000201023:R354H|.	R|V	-|-	2|1	0|0	ERGIC2|ERGIC2	29385968|29385968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.276000|5.276000	0.65580|0.65580	1.580000|1.580000	0.49851|0.49851	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.303	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		52	87	0	0	0	1	0	52	87				
ITPR3	3710	broad.mit.edu	37	6	33663472	33663472	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:33663472C>T	ENST00000374316.5	+	59	9007				MIR3934_ENST00000579806.1_RNA|ITPR3_ENST00000605930.1_Intron|SBP1_ENST00000594414.1_Start_Codon_SNP_p.M1I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGCCTGTTGGCATCTGCTTAA	0.612																																						ENST00000594414.1																			0											c.(1-3)atG>atA									119.0	106.0	110.0					6																	33663472		2203	4300	6503	SO:0001627	intron_variant	0							g.chr6:33663472C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7948-17C>T	6.37:g.33663472C>T						ITPR3_ENST00000605930.1_Intron|ITPR3_ENST00000374316.5_Intron	p.M1I							1	2	-								Q14649|Q5TAQ2	Translation_Start_Site	SNP	ENST00000374316.5	37	c.3G>A	CCDS4783.1																																																																																				0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		18	37	0	0	0	1	0	18	37				
PSG3	5671	broad.mit.edu	37	19	43233462	43233462	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:43233462C>T	ENST00000327495.5	-	5	1240	c.1056G>A	c.(1054-1056)ttG>ttA	p.L352L	PSG3_ENST00000595140.1_Silent_p.L352L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	352	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CGAAGCAGGACAAGTAGAGGT	0.443																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1054-1056)ttG>ttA		pregnancy specific beta-1-glycoprotein 3							153.0	163.0	159.0					19																	43233462		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43233462C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1056G>A	19.37:g.43233462C>T						PSG3_ENST00000595140.1_Silent_p.L352L	p.L352L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1240	-		Prostate(69;0.00682)	352	Missing (in Ref. 9).		Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.1056G>A	CCDS12611.1																																																																																				0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		55	101	0	0	0	1	0	55	101				
LIAS	11019	broad.mit.edu	37	4	39471653	39471653	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:39471653C>T	ENST00000513731.1	+	4	414	c.362C>T	c.(361-363)cCt>cTt	p.P121L	LIAS_ENST00000340169.2_Missense_Mutation_p.P251L|LIAS_ENST00000381846.1_Missense_Mutation_p.P208L|LIAS_ENST00000261434.3_Missense_Mutation_p.P251L					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						GTTCGTGATCCTCGGGCCAAT	0.423																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(751-753)cCt>cTt		lipoic acid synthetase	Lipoic Acid(DB00166)						109.0	94.0	99.0					4																	39471653		2203	4300	6503	SO:0001583	missense	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39471653C>T	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.362C>T	4.37:g.39471653C>T	ENSP00000425580:p.Pro121Leu					LIAS_ENST00000381846.1_Missense_Mutation_p.P208L|LIAS_ENST00000340169.2_Missense_Mutation_p.P251L|LIAS_ENST00000513731.1_Missense_Mutation_p.P121L	p.P251L	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			8	870	+			251						Missense_Mutation	SNP	ENST00000513731.1	37	c.752C>T		.	.	.	.	.	.	.	.	.	.	C	19.08	3.757134	0.69648	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.03	5.84	5.0	0.66597	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.92784	3.345	0.80722	D	1	B;P;P	0.52692	0.334;0.955;0.949	B;P;D	0.62955	0.251;0.843;0.909	D	0.91879	0.5514	10	0.46703	T	0.11	-10.1914	14.1453	0.65347	0.0:0.9282:0.0:0.0718	.	208;121;251	C9JCF6;D6RCP8;O43766	.;.;LIAS_HUMAN	L	251;251;121;208	ENSP00000340676:P251L;ENSP00000261434:P251L;ENSP00000425580:P121L;ENSP00000371270:P208L	ENSP00000261434:P251L	P	+	2	0	LIAS	39148048	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.423000	0.80229	1.469000	0.48083	0.655000	0.94253	CCT		0.423	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		5	58	0	0	0	1	0	5	58				
CDH22	64405	broad.mit.edu	37	20	44869715	44869715	+	Missense_Mutation	SNP	C	C	T	rs540366948		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:44869715C>T	ENST00000372262.3	-	2	837	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CDH22_ENST00000537909.1_Missense_Mutation_p.R146H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)				CTCCAGTAGGCGGTTGGTGGC	0.627																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(436-438)cGc>cAc		cadherin 22, type 2							82.0	65.0	71.0					20																	44869715		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44869715C>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.437G>A	20.37:g.44869715C>T	ENSP00000361336:p.Arg146His					CDH22_ENST00000537909.1_Missense_Mutation_p.R146H	p.R146H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			2	837	-		Myeloproliferative disorder(115;0.0122)	146			Cadherin 1.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.437G>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839037	0.71373	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52526	0.66;0.66	4.22	3.28	0.37604	Cadherin (4);Cadherin-like (1);	0.231159	0.38217	N	0.001780	T	0.49490	0.1560	M	0.72479	2.2	0.25932	N	0.982982	D	0.60160	0.987	P	0.48368	0.575	T	0.50372	-0.8836	10	0.66056	D	0.02	.	7.8798	0.29616	0.0:0.8351:0.0:0.1649	.	146	Q9UJ99	CAD22_HUMAN	H	146	ENSP00000361336:R146H;ENSP00000437790:R146H	ENSP00000361336:R146H	R	-	2	0	CDH22	44303122	0.984000	0.35163	1.000000	0.80357	0.988000	0.76386	1.338000	0.33873	2.369000	0.80426	0.462000	0.41574	CGC		0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		15	35	0	0	0	1	0	15	35				
NPHP4	261734	broad.mit.edu	37	1	5927957	5927957	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:5927957C>A	ENST00000378156.4	-	24	3581		c.e24-1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACAAGACCTGTGAGGAGG	0.602																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.e24-1		nephronophthisis 4							50.0	58.0	55.0					1																	5927957		2165	4260	6425	SO:0001630	splice_region_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5927957C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3316-1G>T	1.37:g.5927957C>A						NPHP4_ENST00000478423.2_Splice_Site		NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	24	3581	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)						Q8IWC0	Splice_Site	SNP	ENST00000378156.4	37		CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085752	0.36758	.	.	ENSG00000131697	ENST00000378156	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5351	0.91008	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP4	5850544	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	7.682000	0.84083	2.619000	0.88677	0.561000	0.74099	.		0.602	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		Intron	6	21	1	0	0.217242	1	0.217582	6	21				
CORO7	79585	broad.mit.edu	37	16	4414863	4414863	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:4414863C>T	ENST00000251166.4	-	12	1102	c.957G>A	c.(955-957)gcG>gcA	p.A319A	CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000423908.2_Silent_p.A151A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7_ENST00000574025.1_Silent_p.A234A|CORO7_ENST00000539968.1_Silent_p.A99A	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	319					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGACGGCCAGCGCCTGCCGGG	0.657																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(955-957)gcG>gcA		coronin 7							31.0	26.0	28.0					16																	4414863		2193	4288	6481	SO:0001819	synonymous_variant	79585							g.chr16:4414863C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.957G>A	16.37:g.4414863C>T						CORO7_ENST00000574025.1_Silent_p.A234A|CORO7_ENST00000539968.1_Silent_p.A99A|CORO7_ENST00000537233.2_Silent_p.A301A|CORO7-PAM16_ENST00000572467.1_Silent_p.A319A|CORO7_ENST00000423908.2_Silent_p.A151A	p.A319A	NM_024535.4	NP_078811.3					12	1102	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.957G>A	CCDS10513.1																																																																																				0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	12	0	0	0	1	0	5	12				
ZBED4	9889	broad.mit.edu	37	22	50278881	50278881	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50278881C>T	ENST00000216268.5	+	2	2048	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	524						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P524Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCAAACTCTCCGTATGCCACT	0.502																																						ENST00000216268.4																			1	Substitution - Missense(1)	p.P524Q(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1570-1572)cCg>cTg		zinc finger, BED-type containing 4							98.0	102.0	101.0					22																	50278881		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278881C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1571C>T	22.37:g.50278881C>T	ENSP00000216268:p.Pro524Leu						p.P524L	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2048	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	524					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1571C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207196	0.79127	.	.	ENSG00000100426	ENST00000216268	T	0.52057	0.68	5.76	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.34521	1.04	0.80722	D	1	P	0.39940	0.696	B	0.26969	0.075	T	0.31392	-0.9945	10	0.87932	D	0	-20.0602	14.4005	0.67041	0.0:0.9283:0.0:0.0717	.	524	O75132	ZBED4_HUMAN	L	524	ENSP00000216268:P524L	ENSP00000216268:P524L	P	+	2	0	ZBED4	48664885	1.000000	0.71417	0.207000	0.23584	0.863000	0.49368	5.537000	0.67186	1.451000	0.47736	0.591000	0.81541	CCG		0.502	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		20	84	0	0	0	1	0	20	84				
SCLT1	132320	broad.mit.edu	37	4	129965200	129965200	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:129965200C>T	ENST00000281142.5	-	3	612	c.109G>A	c.(109-111)Gtc>Atc	p.V37I	SCLT1_ENST00000503401.1_Missense_Mutation_p.V14I|SCLT1_ENST00000503215.1_Missense_Mutation_p.V14I|SCLT1_ENST00000506368.1_Missense_Mutation_p.V37I|SCLT1_ENST00000434680.1_Missense_Mutation_p.V37I|SCLT1_ENST00000511426.1_Missense_Mutation_p.V37I|SCLT1_ENST00000439369.2_Missense_Mutation_p.V37I	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	37					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTTGGCAGACAGCTTTCTAT	0.274																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(109-111)Gtc>Atc		sodium channel and clathrin linker 1							73.0	79.0	77.0					4																	129965200		2202	4292	6494	SO:0001583	missense	132320					centrosome		g.chr4:129965200C>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.109G>A	4.37:g.129965200C>T	ENSP00000281142:p.Val37Ile					SCLT1_ENST00000506368.1_Missense_Mutation_p.V37I|SCLT1_ENST00000434680.1_Missense_Mutation_p.V37I|SCLT1_ENST00000439369.2_Missense_Mutation_p.V37I|SCLT1_ENST00000503215.1_Missense_Mutation_p.V14I|SCLT1_ENST00000503401.1_Missense_Mutation_p.V14I|SCLT1_ENST00000511426.1_Missense_Mutation_p.V37I	p.V37I	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			3	612	-			37					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.109G>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	4.286	0.052344	0.08291	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368;ENST00000511426;ENST00000503401	T	0.44881	0.91	4.08	2.27	0.28462	.	0.417657	0.20872	N	0.084145	T	0.22166	0.0534	L	0.29908	0.895	0.26011	N	0.981998	B;P;B;B;B	0.37955	0.122;0.612;0.089;0.021;0.206	B;B;B;B;B	0.30401	0.06;0.115;0.023;0.023;0.086	T	0.08848	-1.0702	9	.	.	.	0.244	4.3418	0.11113	0.2246:0.6542:0.0:0.1213	.	37;37;37;37;37	Q96NL6-3;Q96NL6-4;D6RBA6;Q96NL6-2;Q96NL6	.;.;.;.;SCLT1_HUMAN	I	37;37;37;14;37;37;14	ENSP00000281142:V37I	.	V	-	1	0	SCLT1	130184650	0.087000	0.21565	0.653000	0.29593	0.011000	0.07611	-0.047000	0.11963	0.457000	0.26962	0.650000	0.86243	GTC		0.274	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		12	23	0	0	0	1	0	12	23				
RFX4	5992	broad.mit.edu	37	12	107080708	107080708	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:107080708G>A	ENST00000392842.1	+	6	838	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RFX4_ENST00000229387.5_Missense_Mutation_p.D48N|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.D151N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	142					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCAATATTATGATGTGATGTA	0.478																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(424-426)Gat>Aat		regulatory factor X, 4 (influences HLA class II expression)							144.0	143.0	143.0					12																	107080708		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107080708G>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.424G>A	12.37:g.107080708G>A	ENSP00000376585:p.Asp142Asn					RFX4_ENST00000229387.5_Missense_Mutation_p.D48N|RFX4_ENST00000357881.4_Missense_Mutation_p.D151N|RP11-144F15.1_ENST00000551505.1_Intron	p.D142N	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			6	838	+			142					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.424G>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059058	0.76074	.	.	ENSG00000111783	ENST00000392842;ENST00000549040;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000552866;ENST00000229387	T;D;T;D;T;T	0.86230	-0.13;-1.96;-0.13;-2.09;-1.14;0.85	5.75	5.75	0.90469	.	0.101598	0.64402	D	0.000001	D	0.90424	0.7002	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.996;0.993	D;D;D;D	0.78314	0.973;0.991;0.987;0.971	D	0.89195	0.3553	10	0.38643	T	0.18	-19.4761	19.9598	0.97242	0.0:0.0:1.0:0.0	.	48;151;151;142	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	N	142;59;151;151;87;48;48	ENSP00000376585:D142N;ENSP00000447735:D59N;ENSP00000350552:D151N;ENSP00000448694:D87N;ENSP00000447904:D48N;ENSP00000229387:D48N	ENSP00000229387:D48N	D	+	1	0	RFX4	105604838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.634000	0.83273	2.716000	0.92895	0.655000	0.94253	GAT		0.478	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		33	50	0	0	0	1	0	33	50				
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACCCTAAAGGAAGGAAGAA	0.398																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(847-849)aaG>aaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							118.0	109.0	112.0					22																	50552182		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552182G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.849G>T	22.37:g.50552182G>T	ENSP00000262794:p.Lys283Asn					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N	p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	932	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	283					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.849G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG		0.398	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		18	46	1	0	1.64113e-05	1	1.69611e-05	18	46				
LENG8	114823	broad.mit.edu	37	19	54967330	54967330	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54967330C>T	ENST00000326764.5	+	9	1689	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	367	Ser-rich.									breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GTTTGGCAACCGCAACGTCTT	0.677																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1210-1212)Cgc>Tgc		leukocyte receptor cluster (LRC) member 8							86.0	100.0	96.0					19																	54967330		2193	4287	6480	SO:0001583	missense	114823						protein binding	g.chr19:54967330C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1210C>T	19.37:g.54967330C>T	ENSP00000318374:p.Arg404Cys					LENG8_ENST00000376514.2_Intron	p.R404C	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	9	1689	+	Ovarian(34;0.19)		367			Ser-rich.		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1210C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043393	0.75732	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.38401	1.18;1.18;1.14	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.966	T	0.54029	-0.8354	10	0.59425	D	0.04	-31.202	10.8684	0.46869	0.1882:0.8118:0.0:0.0	.	404;367	Q96PV6-2;F8W9Q9	.;.	C	404;367;367;404	ENSP00000318374:R404C;ENSP00000365709:R367C;ENSP00000388053:R404C	ENSP00000301196:R367C	R	+	1	0	LENG8	59659142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.369000	0.52365	2.367000	0.80283	0.561000	0.74099	CGC		0.677	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		32	48	0	0	0	1	0	32	48				
PCDHA2	56146	broad.mit.edu	37	5	140176990	140176990	+	Intron	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140176990T>C	ENST00000526136.1	+	1	2388				PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F814S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAAAAAATTCTATATGATT	0.299																																						ENST00000378132.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2440-2442)tTc>tCc									14.0	18.0	16.0					5																	140176990		2170	4292	6462	SO:0001627	intron_variant	0							g.chr5:140176990T>C	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2388+53T>C	5.37:g.140176990T>C						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.F814S	NM_031495.1	NP_113683.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2547	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2441T>C	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	9.483	1.098788	0.20552	.	.	ENSG00000204969	ENST00000378132	T	0.53206	0.63	3.76	1.31	0.21738	.	17.573500	0.01273	U	0.009503	T	0.30978	0.0782	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10200	-1.0640	8	.	.	.	.	3.9389	0.09318	0.0:0.2183:0.2511:0.5306	.	814	Q9Y5H9-2	.	S	814	ENSP00000367372:F814S	.	F	+	2	0	PCDHA2	140157174	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.275000	0.08525	0.174000	0.19809	0.482000	0.46254	TTC		0.299	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		10	19	0	0	0	1	0	10	19				
TOPORS	10210	broad.mit.edu	37	9	32543368	32543368	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32543368G>A	ENST00000360538.2	-	3	1271	c.1155C>T	c.(1153-1155)agC>agT	p.S385S	TOPORS_ENST00000379858.1_Silent_p.S320S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	385					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATCAGAATGGCTGCCTTCTT	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1153-1155)agC>agT		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							73.0	75.0	74.0					9																	32543368		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543368G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1155C>T	9.37:g.32543368G>A						TOPORS_ENST00000379858.1_Silent_p.S320S	p.S385S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1271	-			385					O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.1155C>T	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		14	47	0	0	0	1	0	14	47				
MEX3B	84206	broad.mit.edu	37	15	82336500	82336500	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82336500G>A	ENST00000329713.4	-	2	1146	c.711C>T	c.(709-711)gaC>gaT	p.D237D	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	237					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGTCGTTCTCGTCTGTGAGCT	0.632																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(709-711)gaC>gaT		mex-3 RNA binding family member B							141.0	127.0	132.0					15																	82336500		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336500G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.711C>T	15.37:g.82336500G>A						MEX3B_ENST00000558133.1_3'UTR	p.D237D	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1146	-			237					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.711C>T	CCDS10319.1																																																																																				0.632	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		14	100	0	0	0	1	0	14	100				
PPAPDC1A	196051	broad.mit.edu	37	10	122280551	122280551	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:122280551G>A	ENST00000398250.1	+	5	741	c.389G>A	c.(388-390)gGt>gAt	p.G130D	PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.G130D|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.G120D	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	130					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CATTGCACAGGTGACCCCGAT	0.493																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(388-390)gGt>gAt		phosphatidic acid phosphatase type 2 domain containing 1A							84.0	85.0	85.0					10																	122280551		1908	4127	6035	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280551G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.389G>A	10.37:g.122280551G>A	ENSP00000381302:p.Gly130Asp					PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.G120D|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.G130D|PPAPDC1A_ENST00000398248.1_Intron	p.G130D	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	741	+		Lung NSC(174;0.1)|all_lung(145;0.132)	130					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.389G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216585	0.95104	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89061	0.6608	M	0.88031	2.925	0.80722	D	1	D;P	0.89917	1.0;0.948	D;D	0.97110	1.0;0.936	D	0.89488	0.3755	10	0.54805	T	0.06	-11.3739	19.9598	0.97242	0.0:0.0:1.0:0.0	.	130;130	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	D	130;130;130;120	ENSP00000381302:G130D;ENSP00000407979:G130D;ENSP00000440493:G130D;ENSP00000358069:G120D	ENSP00000358069:G120D	G	+	2	0	PPAPDC1A	122270541	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	GGT		0.493	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		46	73	0	0	0	1	0	46	73				
SON	6651	broad.mit.edu	37	21	34924855	34924855	+	Silent	SNP	G	G	A	rs201429291		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:34924855G>A	ENST00000356577.4	+	3	3793	c.3318G>A	c.(3316-3318)tcG>tcA	p.S1106S	SON_ENST00000300278.4_Silent_p.S1106S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S1106S|SON_ENST00000381679.4_Silent_p.S1106S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1106	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGATGTCATCGTACTCTGCAG	0.468																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3316-3318)tcG>tcA		SON DNA binding protein							207.0	157.0	174.0					21																	34924855		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924855G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3318G>A	21.37:g.34924855G>A						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S1106S|SON_ENST00000290239.6_Silent_p.S1106S|SON_ENST00000300278.4_Silent_p.S1106S	p.S1106S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3793	+			1106			14 X 6 AA repeats of [ED]-R-S-M-M-S.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.3318G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	3.529	-0.096070	0.07010	.	.	ENSG00000159140	ENST00000436227	.	.	.	6.06	4.21	0.49690	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58183	-0.7681	4	.	.	.	.	9.7269	0.40337	0.0846:0.1744:0.741:0.0	.	.	.	.	H	101	.	.	R	+	2	0	SON	33846725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.296000	0.19083	1.565000	0.49641	0.655000	0.94253	CGT		0.468	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	54	0	0	0	1	0	4	54				
ABCC2	1244	broad.mit.edu	37	10	101591866	101591866	+	Missense_Mutation	SNP	G	G	A	rs145672804	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:101591866G>A	ENST00000370449.4	+	23	3349	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1079	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCACAGGCCGGATTGTGAAC	0.443													G|||	3	0.000599042	0.0	0.0043	5008	,	,		19307	0.0		0.0	False		,,,				2504	0.0					ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3235-3237)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		GLN/ARG	1,4405		0,1,2202	88.0	85.0	86.0		3236	5.8	1.0	10	dbSNP_134	86	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ABCC2	NM_000392.3	43	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	1079/1546	101591866	8,12998	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101591866G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3236G>A	10.37:g.101591866G>A	ENSP00000359478:p.Arg1079Gln						p.R1079Q	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	23	3349	+		Colorectal(252;0.234)	1079			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3236G>A	CCDS7484.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	28.7	4.943550	0.92593	2.27E-4	8.14E-4	ENSG00000023839	ENST00000370449	D	0.94897	-3.55	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	M	0.90082	3.085	0.80722	D	1	D	0.57257	0.979	P	0.59595	0.86	D	0.95671	0.8723	10	0.87932	D	0	-8.6615	20.0168	0.97479	0.0:0.0:1.0:0.0	.	1079	Q92887	MRP2_HUMAN	Q	1079	ENSP00000359478:R1079Q	ENSP00000359478:R1079Q	R	+	2	0	ABCC2	101581856	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.083000	0.76859	2.737000	0.93849	0.591000	0.81541	CGG		0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		23	44	0	0	0	1	0	23	44				
TTLL5	23093	broad.mit.edu	37	14	76200338	76200338	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76200338G>A	ENST00000298832.9	+	14	1336	c.1131G>A	c.(1129-1131)gcG>gcA	p.A377A	TTLL5_ENST00000557636.1_Silent_p.A377A|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	377	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTAGTGATGCGCCTCTGGACC	0.388																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1129-1131)gcG>gcA		tubulin tyrosine ligase-like family, member 5							210.0	195.0	200.0					14																	76200338		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76200338G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1131G>A	14.37:g.76200338G>A						TTLL5_ENST00000557636.1_Silent_p.A377A|TTLL5_ENST00000555422.1_3'UTR	p.A377A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	14	1336	+			377			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.1131G>A	CCDS32124.1																																																																																				0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		32	52	0	0	0	1	0	32	52				
TRPM1	4308	broad.mit.edu	37	15	31359373	31359373	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:31359373C>A	ENST00000256552.6	-	6	658	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.G149W|TRPM1_ENST00000542188.1_Missense_Mutation_p.G188W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGGCATCCCCTACGTGGCTG	0.498																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(562-564)Ggg>Tgg		transient receptor potential cation channel, subfamily M, member 1							116.0	115.0	115.0					15																	31359373		1921	4123	6044	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359373C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.511G>T	15.37:g.31359373C>A	ENSP00000256552:p.Gly171Trp					TRPM1_ENST00000256552.6_Missense_Mutation_p.G171W|TRPM1_ENST00000397795.2_Missense_Mutation_p.G149W	p.G188W	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	5	875	-		all_lung(180;1.92e-11)	149						Missense_Mutation	SNP	ENST00000256552.6	37	c.562G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991946	0.93167	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.18174	2.23;2.23;2.23	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.65726	-0.6098	10	0.87932	D	0	-36.9257	20.7342	0.99715	0.0:1.0:0.0:0.0	.	149;149	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	149;188;171;149	ENSP00000380897:G149W;ENSP00000437849:G188W;ENSP00000256552:G171W	ENSP00000256552:G171W	G	-	1	0	TRPM1	29146665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.811000	0.86092	2.906000	0.99361	0.655000	0.94253	GGG		0.498	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	66	1	0	0.150653	1	0.151081	4	66				
COL7A1	1294	broad.mit.edu	37	3	48629119	48629119	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48629119G>A	ENST00000328333.8	-	11	1601	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	COL7A1_ENST00000454817.1_Silent_p.T498T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	498	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGGAACCACGGTTGCAGGGG	0.647																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1492-1494)acC>acT		collagen, type VII, alpha 1							41.0	46.0	44.0					3																	48629119		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629119G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1494C>T	3.37:g.48629119G>A						COL7A1_ENST00000454817.1_Silent_p.T498T	p.T498T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1601	-			498			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1494C>T	CCDS2773.1																																																																																				0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		20	24	0	0	0	1	0	20	24				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158991628	158991628	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:158991628C>T	ENST00000337808.6	+	1	596	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1			IQCJ-SCHIP1 readthrough									p.R7S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GTCCGGGCAGCGTGTTACAAC	0.423																																						ENST00000337808.6																			1	Substitution - Missense(1)	p.R7S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(19-21)Cgt>Tgt									116.0	111.0	113.0					3																	158991628		2203	4300	6503	SO:0001583	missense	0					cytoplasm	identical protein binding|protein binding	g.chr3:158991628C>T		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000337808.6:c.19C>T	3.37:g.158991628C>T	ENSP00000337239:p.Arg7Cys					IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.R7C|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.R7C	p.R7C	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			1	596	+			7						Missense_Mutation	SNP	ENST00000337808.6	37	c.19C>T	CCDS3186.1	.	.	.	.	.	.	.	.	.	.	C	5.573	0.290594	0.10567	.	.	ENSG00000250588	ENST00000337808;ENST00000412423;ENST00000527095	T;T;T	0.56275	1.23;1.16;0.47	5.34	2.38	0.29361	.	1.754790	0.03460	N	0.212046	T	0.40862	0.1134	.	.	.	0.52501	D	0.999953	P;P	0.52577	0.954;0.923	B;B	0.36959	0.237;0.12	T	0.49041	-0.8980	9	0.66056	D	0.02	.	3.7585	0.08595	0.1705:0.575:0.1648:0.0896	.	7;7	Q9P0W5-2;Q9P0W5	.;SCHI1_HUMAN	C	7	ENSP00000337239:R7C;ENSP00000400942:R7C;ENSP00000436076:R7C	ENSP00000337239:R7C	R	+	1	0	IQCJ-SCHIP1	160474322	0.051000	0.20477	0.274000	0.24659	0.260000	0.26232	0.101000	0.15251	0.726000	0.32339	0.650000	0.86243	CGT		0.423	IQCJ-SCHIP1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352557.1	NM_001197113		6	7	0	0	0	1	0	6	7				
TONSL	4796	broad.mit.edu	37	8	145661958	145661958	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:145661958G>A	ENST00000409379.3	-	16	2026	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	666					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.A507V(1)|p.A666V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGAGGCAGCCGCCTGGAGCAG	0.667																																						ENST00000409379.3																			2	Substitution - Missense(2)	p.A507V(1)|p.A666V(1)	lung(2)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(1996-1998)gCg>gTg		tonsoku-like, DNA repair protein							37.0	41.0	40.0					8																	145661958		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661958G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1997C>T	8.37:g.145661958G>A	ENSP00000386239:p.Ala666Val					AC084125.4_ENST00000544423.1_RNA	p.A666V	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			16	2026	-			666					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1997C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334164	0.05278	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.51574	0.7	4.73	2.9	0.33743	.	0.684591	0.13847	N	0.358600	T	0.24699	0.0599	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.16129	-1.0413	10	0.28530	T	0.3	-2.5174	3.9633	0.09420	0.2067:0.0:0.6064:0.1868	.	666	Q96HA7	TONSL_HUMAN	V	666;665	ENSP00000386239:A666V	ENSP00000386239:A666V	A	-	2	0	TONSL	145632766	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	0.576000	0.23744	0.401000	0.25424	0.462000	0.41574	GCG		0.667	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		15	23	0	0	0	1	0	15	23				
CP	1356	broad.mit.edu	37	3	148903102	148903102	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148903102C>T	ENST00000264613.6	-	12	2471	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	737	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCACTGCTGCGATATAGTAT	0.478																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2209-2211)Gca>Aca		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						191.0	187.0	188.0					3																	148903102		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903102C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2209G>A	3.37:g.148903102C>T	ENSP00000264613:p.Ala737Thr					CP_ENST00000462336.1_5'UTR	p.A737T	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2471	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	737			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2209G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385909	0.61956	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99042	-5.36;-5.36	5.55	5.55	0.83447	Cupredoxin (2);	0.169125	0.52532	D	0.000062	D	0.99296	0.9754	M	0.87617	2.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	P;P;P	0.62298	0.9;0.9;0.857	D	0.99327	1.0908	10	0.54805	T	0.06	-21.1098	19.5213	0.95185	0.0:1.0:0.0:0.0	.	737;737;737	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	T	737;520	ENSP00000264613:A737T;ENSP00000420545:A520T	ENSP00000264613:A737T	A	-	1	0	CP	150385792	1.000000	0.71417	0.488000	0.27440	0.135000	0.20990	4.978000	0.63799	2.610000	0.88304	0.555000	0.69702	GCA		0.478	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		7	133	0	0	0	1	0	7	133				
SEMA6A	57556	broad.mit.edu	37	5	115815886	115815886	+	Silent	SNP	C	C	T	rs369918649		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:115815886C>T	ENST00000343348.6	-	12	1969	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.T394T	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	394	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.T394T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGAGCGGGTGCGTCTTGATGA	0.498																																						ENST00000343348.6																			1	Substitution - coding silent(1)	p.T394T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1180-1182)acG>acA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A		C		0,3958		0,0,1979	135.0	132.0	133.0		1182	-4.6	1.0	5		133	1,8347		0,1,4173	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6152	TT,TC,CC		0.012,0.0,0.0081		394/1031	115815886	1,12305	1979	4174	6153	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115815886C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1182G>A	5.37:g.115815886C>T						CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.T394T|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T	p.T394T	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	12	1969	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	394			Sema.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1182G>A	CCDS47256.1																																																																																				0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		27	38	0	0	0	1	0	27	38				
TGM2	7052	broad.mit.edu	37	20	36789870	36789870	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:36789870G>A	ENST00000361475.2	-	2	315	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	TGM2_ENST00000536701.1_Missense_Mutation_p.R48C|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	48					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R48C(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCGTAGTTGCGGCCCTCAAAG	0.637																																						ENST00000361475.2																			1	Substitution - Missense(1)	p.R48C(1)	skin(1)	endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(142-144)Cgc>Tgc		transglutaminase 2	L-Glutamine(DB00130)						73.0	57.0	62.0					20																	36789870		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36789870G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.142C>T	20.37:g.36789870G>A	ENSP00000355330:p.Arg48Cys					TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Missense_Mutation_p.R48C	p.R48C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			2	315	-		Myeloproliferative disorder(115;0.00878)	48					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.142C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855884	0.32791	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000373403;ENST00000453095	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	3.52	1.48	0.22813	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.266404	0.31392	N	0.007722	D	0.94958	0.8369	M	0.91038	3.17	0.49299	D	0.999779	P;D;D;D	0.89917	0.948;1.0;1.0;1.0	P;D;D;D	0.80764	0.594;0.994;0.977;0.972	D	0.93230	0.6616	10	0.87932	D	0	-14.3744	7.2535	0.26162	0.0929:0.0:0.7209:0.1863	.	48;48;48;48	B4DIT7;P21980-3;P21980-2;P21980	.;.;.;TGM2_HUMAN	C	48	ENSP00000355330:R48C;ENSP00000444701:R48C;ENSP00000362502:R48C;ENSP00000387642:R48C	ENSP00000355330:R48C	R	-	1	0	TGM2	36223284	0.902000	0.30710	0.736000	0.30914	0.112000	0.19704	0.679000	0.25291	0.426000	0.26116	-0.258000	0.10820	CGC		0.637	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		12	25	0	0	0	1	0	12	25				
CLEC9A	283420	broad.mit.edu	37	12	10205327	10205327	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:10205327G>A	ENST00000355819.1	+	4	654	c.41G>A	c.(40-42)aGc>aAc	p.S14N	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	14					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CAGTGGGATAGCCCAGCACCA	0.423																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(40-42)aGc>aAc		C-type lectin domain family 9, member A							121.0	111.0	114.0					12																	10205327		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10205327G>A		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.41G>A	12.37:g.10205327G>A	ENSP00000348074:p.Ser14Asn					CLEC9A_ENST00000544751.1_3'UTR	p.S14N	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			4	654	+			14					B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.41G>A	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	1.805	-0.476208	0.04414	.	.	ENSG00000197992	ENST00000355819	T	0.01414	4.92	4.2	-6.07	0.02158	.	1.456910	0.04526	N	0.385563	T	0.00875	0.0029	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.15952	T	0.53	.	2.5408	0.04725	0.1967:0.2894:0.3805:0.1334	.	14	Q6UXN8	CLC9A_HUMAN	N	14	ENSP00000348074:S14N	ENSP00000348074:S14N	S	+	2	0	CLEC9A	10096594	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.770000	0.04705	-1.277000	0.02411	-0.302000	0.09304	AGC		0.423	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		22	26	0	0	0	1	0	22	26				
DMKN	93099	broad.mit.edu	37	19	36001089	36001089	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36001089G>A	ENST00000339686.3	-	6	1160	c.984C>T	c.(982-984)ccC>ccT	p.P328P	DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000418261.1_Silent_p.P328P|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000451297.2_Silent_p.P328P|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000414866.2_Silent_p.P41P|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000419602.1_Silent_p.P267P|DMKN_ENST00000488892.1_Silent_p.P41P|DMKN_ENST00000443640.1_Silent_p.P41P|DMKN_ENST00000467637.1_Silent_p.P41P|DMKN_ENST00000436012.1_Silent_p.P41P|DMKN_ENST00000402589.2_Silent_p.P41P|DMKN_ENST00000480502.1_Silent_p.P41P|DMKN_ENST00000458071.1_Silent_p.P41P|DMKN_ENST00000392206.2_Silent_p.P41P|DMKN_ENST00000602781.1_Silent_p.P41P|DMKN_ENST00000429837.1_Silent_p.P267P|DMKN_ENST00000424570.2_Silent_p.P328P|DMKN_ENST00000447113.2_Silent_p.P328P|DMKN_ENST00000440396.1_Silent_p.P328P|DMKN_ENST00000492341.2_5'UTR	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	328	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACTCACCCCGGGTTTATGTC	0.612											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(982-984)ccC>ccT		dermokine							25.0	23.0	24.0					19																	36001089		2203	4300	6503	SO:0001819	synonymous_variant	93099					extracellular region		g.chr19:36001089G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.984C>T	19.37:g.36001089G>A			OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000402589.2_Silent_p.P41P|DMKN_ENST00000414866.2_Silent_p.P41P|DMKN_ENST00000488892.1_Silent_p.P41P|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000436012.1_Silent_p.P41P|DMKN_ENST00000440396.1_Silent_p.P328P|DMKN_ENST00000429837.1_Silent_p.P267P|DMKN_ENST00000458071.1_Silent_p.P41P|DMKN_ENST00000602781.1_Silent_p.P41P|DMKN_ENST00000451297.2_Silent_p.P328P|DMKN_ENST00000419602.1_Silent_p.P267P|DMKN_ENST00000480502.1_Silent_p.P41P|DMKN_ENST00000424570.2_Silent_p.P328P|DMKN_ENST00000418261.1_Silent_p.P328P|DMKN_ENST00000392206.2_Silent_p.P41P|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000467637.1_Silent_p.P41P|DMKN_ENST00000443640.1_Silent_p.P41P|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000447113.2_Silent_p.P328P	p.P328P	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	1160	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		328			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	c.984C>T	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713673	0.15306	.	.	ENSG00000161249	ENST00000434389	.	.	.	3.7	-4.19	0.03835	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.40820	D	0.983497	.	.	.	.	.	.	T	0.36744	-0.9735	4	.	.	.	-15.2397	0.6551	0.00833	0.191:0.2837:0.2367:0.2886	.	.	.	.	W	9	.	.	R	-	1	2	DMKN	40692929	0.090000	0.21635	0.027000	0.17364	0.043000	0.13939	-0.661000	0.05311	-0.685000	0.05177	0.655000	0.94253	CGG		0.612	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		3	7	0	0	0	1	0	3	7				
RPLP1	6176	broad.mit.edu	37	15	69747510	69747510	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:69747510C>T	ENST00000260379.6	+	3	314	c.149C>T	c.(148-150)gCc>gTc	p.A50V	U3_ENST00000384391.1_RNA|RPLP1_ENST00000560274.1_Intron|RPLP1_ENST00000357790.5_Splice_Site_p.A25V	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						GTATTGCAGGCCCTGGCCAAC	0.562																																						ENST00000260379.6																			0				ovary(1)	1						c.e3-1		ribosomal protein, large, P1							95.0	95.0	95.0					15																	69747510		2199	4298	6497	SO:0001630	splice_region_variant	6176				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr15:69747510C>T		CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"""L ribosomal proteins"""	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.148-1C>T	15.37:g.69747510C>T						RPLP1_ENST00000357790.5_Splice_Site_p.A25_splice|RPLP1_ENST00000560274.1_Intron	p.A50_splice	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN			3	314	+			50					A6NIB2	Splice_Site	SNP	ENST00000260379.6	37	c.147_splice	CCDS10233.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174701	0.94807	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.764	D	0.86615	0.1875	9	0.48119	T	0.1	.	16.4202	0.83755	0.0:1.0:0.0:0.0	.	25;50	A6NIB2;P05386	.;RLA1_HUMAN	V	50;25	.	ENSP00000346037:A50V	A	+	2	0	RPLP1	67534564	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.317000	0.79018	2.476000	0.83614	0.557000	0.71058	GCC		0.562	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257195.2	NM_001003	Missense_Mutation	24	53	0	0	0	1	0	24	53				
DCAF13	25879	broad.mit.edu	37	8	104433218	104433218	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:104433218C>T	ENST00000297579.5	+	3	1019	c.742C>T	c.(742-744)Cta>Tta	p.L248L	DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Silent_p.L92L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	96					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATTTGGAATCTAACTCAGCG	0.363																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(742-744)Cta>Tta		DDB1 and CUL4 associated factor 13							124.0	116.0	119.0					8																	104433218		2203	4300	6503	SO:0001819	synonymous_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104433218C>T	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.742C>T	8.37:g.104433218C>T						DCAF13_ENST00000519682.1_Silent_p.L92L|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Intron	p.L248L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			3	1019	+			96					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Silent	SNP	ENST00000297579.5	37	c.742C>T	CCDS34934.1																																																																																				0.363	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		25	46	0	0	0	1	0	25	46				
SPAG16	79582	broad.mit.edu	37	2	215013934	215013934	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:215013934T>G	ENST00000331683.5	+	15	1759	c.1664T>G	c.(1663-1665)aTt>aGt	p.I555S	SPAG16_ENST00000374309.3_Missense_Mutation_p.I461S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	555					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTTACCAATTGTGTCCATC	0.383																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1663-1665)aTt>aGt		sperm associated antigen 16							172.0	170.0	170.0					2																	215013934		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215013934T>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1664T>G	2.37:g.215013934T>G	ENSP00000332592:p.Ile555Ser					SPAG16_ENST00000374309.3_Missense_Mutation_p.I461S	p.I555S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	15	1759	+		Renal(323;0.00461)	555					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1664T>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600643	0.28534	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	D;D;D	0.82255	-1.59;-1.59;-1.58	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.402345	0.23738	N	0.045050	D	0.84343	0.5451	M	0.62723	1.935	0.39489	D	0.968017	B;P;B;B	0.49783	0.361;0.928;0.021;0.361	B;P;B;B	0.48270	0.203;0.572;0.019;0.203	D	0.84211	0.0456	10	0.33141	T	0.24	.	15.2933	0.73882	0.0:0.0:0.0:1.0	.	461;406;495;555	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	S	555;461;179	ENSP00000332592:I555S;ENSP00000363428:I461S;ENSP00000416600:I179S	ENSP00000332592:I555S	I	+	2	0	SPAG16	214722179	1.000000	0.71417	0.988000	0.46212	0.855000	0.48748	5.096000	0.64535	2.308000	0.77769	0.533000	0.62120	ATT		0.383	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		44	77	0	0	0	1	0	44	77				
FLNC	2318	broad.mit.edu	37	7	128470942	128470942	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128470942G>A	ENST00000325888.8	+	1	512	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FLNC_ENST00000346177.6_Missense_Mutation_p.R84H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	84	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCATGTACCGCAAGTTCCAT	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(250-252)cGc>cAc		filamin C, gamma							58.0	60.0	60.0					7																	128470942		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470942G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.251G>A	7.37:g.128470942G>A	ENSP00000327145:p.Arg84His					FLNC_ENST00000346177.6_Missense_Mutation_p.R84H	p.R84H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	512	+			84			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.251G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646362	0.87958	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.95137	-3.62;-3.62	4.49	4.49	0.54785	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.64080	1.96	0.53005	D	0.999965	D;B	0.63880	0.993;0.058	P;B	0.52672	0.706;0.017	D	0.95618	0.8678	10	0.66056	D	0.02	.	16.1083	0.81241	0.0:0.0:1.0:0.0	.	84;84	Q14315-2;Q14315	.;FLNC_HUMAN	H	84	ENSP00000327145:R84H;ENSP00000344002:R84H	ENSP00000327145:R84H	R	+	2	0	FLNC	128258178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.920000	0.87521	2.208000	0.71279	0.561000	0.74099	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			14	13	0	0	0	1	0	14	13				
SLC4A4	8671	broad.mit.edu	37	4	72352686	72352686	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:72352686A>G	ENST00000264485.5	+	15	2042	c.1925A>G	c.(1924-1926)gAc>gGc	p.D642G	SLC4A4_ENST00000340595.3_Missense_Mutation_p.D598G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	642					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATATCTAATGACACCACACTG	0.289																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1792-1794)gAc>gGc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							79.0	73.0	75.0					4																	72352686		2202	4297	6499	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72352686A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1925A>G	4.37:g.72352686A>G	ENSP00000264485:p.Asp642Gly					SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642G|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D642G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642G	p.D598G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1989	+			642					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1793A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	3.519	-0.098147	0.07010	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.55	3.07	0.35406	Bicarbonate transporter, C-terminal (1);	1.340640	0.04068	N	0.307549	T	0.61502	0.2352	N	0.14661	0.345	0.30595	N	0.761144	B;B;B;B	0.33826	0.0;0.427;0.0;0.0	B;B;B;B	0.34138	0.001;0.176;0.003;0.0	T	0.56848	-0.7911	10	0.20519	T	0.43	.	3.8626	0.09002	0.6814:0.0:0.1636:0.155	.	642;642;598;642	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	G	642;642;642;598	ENSP00000264485:D642G;ENSP00000393557:D642G;ENSP00000307349:D642G;ENSP00000344272:D598G	ENSP00000264485:D642G	D	+	2	0	SLC4A4	72571550	0.470000	0.25854	0.695000	0.30226	0.149000	0.21700	0.669000	0.25142	0.507000	0.28148	-0.336000	0.08194	GAC		0.289	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		38	86	0	0	0	1	0	38	86				
DYRK3	8444	broad.mit.edu	37	1	206821277	206821277	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:206821277G>A	ENST00000367109.2	+	3	902	c.734G>A	c.(733-735)cGc>cAc	p.R245H	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.R225H|DYRK3_ENST00000367108.3_Missense_Mutation_p.R225H	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AATGAGAAGCGCTTTCATCGT	0.458																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(673-675)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							92.0	89.0	90.0					1																	206821277		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821277G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.734G>A	1.37:g.206821277G>A	ENSP00000356076:p.Arg245His					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.R225H|DYRK3_ENST00000367109.2_Missense_Mutation_p.R245H	p.R225H			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1147	+	Breast(84;0.183)		245			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.674G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745213	0.69418	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.2	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.61533	0.89;0.771	T	0.76170	-0.3057	10	0.87932	D	0	.	12.8106	0.57637	0.0783:0.0:0.9217:0.0	.	245;225	O43781;O43781-2	DYRK3_HUMAN;.	H	245;225;225;225	ENSP00000356076:R245H;ENSP00000356075:R225H;ENSP00000410187:R225H;ENSP00000356073:R225H	ENSP00000356073:R225H	R	+	2	0	DYRK3	204887900	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.619000	0.98369	1.436000	0.47453	0.478000	0.44815	CGC		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		32	52	0	0	0	1	0	32	52				
PRSS48	345062	broad.mit.edu	37	4	152203391	152203391	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:152203391G>A	ENST00000455694.2	+	3	309	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCCAAAATCGTCATCCATCC	0.473																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(307-309)Gtc>Atc		protease, serine, 48							293.0	276.0	282.0					4																	152203391		2060	4219	6279	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203391G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.307G>A	4.37:g.152203391G>A	ENSP00000401328:p.Val103Ile					PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	p.V103I	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			3	309	+			103			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.307G>A	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234651	0.01505	.	.	ENSG00000189099	ENST00000455694	D	0.88124	-2.34	3.77	-4.41	0.03590	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.119640	0.07056	N	0.832816	T	0.59729	0.2215	N	0.00885	-1.115	0.20975	N	0.999815	B	0.06786	0.001	B	0.04013	0.001	T	0.59478	-0.7447	10	0.02654	T	1	.	11.162	0.48520	0.5385:0.0:0.4615:0.0	.	103	Q7RTY5	PRS48_HUMAN	I	103	ENSP00000401328:V103I	ENSP00000401328:V103I	V	+	1	0	PRSS48	152422841	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.632000	0.05489	-1.035000	0.03291	-0.444000	0.05651	GTC		0.473	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		49	83	0	0	0	1	0	49	83				
CCDC173	129881	broad.mit.edu	37	2	170502639	170502639	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170502639G>A	ENST00000447353.1	-	9	1476	c.1371C>T	c.(1369-1371)tgC>tgT	p.C457C		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	457																	CAGTAAGTCTGCAATAATCTA	0.318																																						ENST00000447353.1																			0											c.(1369-1371)tgC>tgT		coiled-coil domain containing 173							214.0	215.0	215.0					2																	170502639		1839	4087	5926	SO:0001819	synonymous_variant	129881							g.chr2:170502639G>A	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1371C>T	2.37:g.170502639G>A							p.C457C	NM_001085447.1	NP_001078916.1					9	1476	-								Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1371C>T	CCDS46445.1																																																																																				0.318	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		46	95	0	0	0	1	0	46	95				
ACKR3	57007	broad.mit.edu	37	2	237489379	237489379	+	Silent	SNP	C	C	T	rs145205829		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:237489379C>T	ENST00000272928.3	+	2	581	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	91					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CATTGCCGACCTGTGGGTTGT	0.572																																						ENST00000272928.3																			0											c.(271-273)Ctg>Ttg		atypical chemokine receptor 3							161.0	141.0	148.0					2																	237489379		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489379C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.271C>T	2.37:g.237489379C>T							p.L91L	NM_020311.2	NP_064707.1					2	581	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.271C>T	CCDS2516.1																																																																																				0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		20	30	0	0	0	1	0	20	30				
INTS8	55656	broad.mit.edu	37	8	95869126	95869126	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:95869126C>T	ENST00000523731.1	+	15	2007	c.1874C>T	c.(1873-1875)gCt>gTt	p.A625V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.A625V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	625					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACACACGAAGCTGGGACAGGG	0.483																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(1873-1875)gCt>gTt		integrator complex subunit 8							126.0	117.0	120.0					8																	95869126		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95869126C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1874C>T	8.37:g.95869126C>T	ENSP00000430338:p.Ala625Val					INTS8_ENST00000447247.1_Missense_Mutation_p.A625V|INTS8_ENST00000520845.1_3'UTR	p.A625V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN			15	2007	+	Breast(36;1.05e-06)		625					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1874C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960209	0.53400	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	4.64	0.57946	.	0.210963	0.49305	D	0.000155	T	0.41719	0.1171	N	0.19112	0.55	0.43942	D	0.996609	B;B	0.11235	0.004;0.003	B;B	0.14023	0.003;0.01	T	0.22173	-1.0224	9	0.16420	T	0.52	-29.0252	14.7495	0.69513	0.0:0.9302:0.0:0.0698	.	625;625	Q75QN2;Q75QN2-2	INT8_HUMAN;.	V	625	.	ENSP00000343274:A625V	A	+	2	0	INTS8	95938302	1.000000	0.71417	0.988000	0.46212	0.921000	0.55340	4.342000	0.59341	1.471000	0.48121	0.655000	0.94253	GCT		0.483	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		42	42	0	0	0	1	0	42	42				
AP2A2	161	broad.mit.edu	37	11	988650	988650	+	Silent	SNP	C	C	T	rs201537556	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:988650C>T	ENST00000448903.2	+	10	1371	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.S411S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATGCTGAGCTATCTGGAGA	0.612													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19343	0.0		0.0	False		,,,				2504	0.0					ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1228-1230)agC>agT		adaptor-related protein complex 2, alpha 2 subunit							97.0	108.0	104.0					11																	988650		2161	4276	6437	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:988650C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1230C>T	11.37:g.988650C>T						AP2A2_ENST00000332231.5_Silent_p.S411S|AP2A2_ENST00000534328.1_Intron	p.S410S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	10	1371	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	410					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1230C>T	CCDS44512.1																																																																																				0.612	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		5	63	0	0	0	1	0	5	63				
HAUS1	115106	broad.mit.edu	37	18	43698194	43698194	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43698194G>A	ENST00000282058.6	+	3	333	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	85					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTTTTCCCCCGCCAATCTCTC	0.408																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(253-255)Gcc>Acc		HAUS augmin-like complex, subunit 1							111.0	107.0	109.0					18																	43698194		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698194G>A	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.253G>A	18.37:g.43698194G>A	ENSP00000282058:p.Ala85Thr					HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	p.A85T	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			3	333	+			85					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.253G>A	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028922	0.35797	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.29	4.18	0.49190	.	0.290613	0.37012	N	0.002300	T	0.21674	0.0522	N	0.17594	0.5	0.31772	N	0.631946	B	0.23891	0.093	B	0.12837	0.008	T	0.08994	-1.0695	9	0.26408	T	0.33	-20.5652	5.5828	0.17258	0.2066:0.0:0.7934:0.0	.	85	Q96CS2	HAUS1_HUMAN	T	85	.	ENSP00000282058:A85T	A	+	1	0	HAUS1	41952192	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.376000	0.44292	2.623000	0.88846	0.650000	0.86243	GCC		0.408	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		44	59	0	0	0	1	0	44	59				
RFX2	5990	broad.mit.edu	37	19	6002838	6002838	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6002838G>A	ENST00000303657.5	-	14	1693	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	RFX2_ENST00000359161.3_Missense_Mutation_p.T515M|RFX2_ENST00000592546.1_Missense_Mutation_p.T490M|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTTGAGGGACGTGTAGCGCCG	0.667																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1543-1545)aCg>aTg		regulatory factor X, 2 (influences HLA class II expression)							68.0	46.0	53.0					19																	6002838		2201	4300	6501	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6002838G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1544C>T	19.37:g.6002838G>A	ENSP00000306335:p.Thr515Met					CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.T490M|RFX2_ENST00000359161.3_Missense_Mutation_p.T515M	p.T515M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			14	1693	-			515					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1544C>T	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937436	0.92458	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.53206	0.63	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80226	-0.1470	10	0.87932	D	0	-35.6137	17.1616	0.86805	0.0:0.0:1.0:0.0	.	490;515	P48378-2;P48378	.;RFX2_HUMAN	M	515;490;302	ENSP00000306335:T515M	ENSP00000306335:T515M	T	-	2	0	RFX2	5953838	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.521000	0.98029	2.436000	0.82500	0.650000	0.86243	ACG		0.667	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		4	10	0	0	0	1	0	4	10				
TBX3	6926	broad.mit.edu	37	12	115114268	115114268	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:115114268G>T	ENST00000257566.3	-	6	1338	c.949C>A	c.(949-951)Ctc>Atc	p.L317I	TBX3_ENST00000349155.2_Missense_Mutation_p.L297I	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	317					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCAGGGTGAGCTGTTTTCTG	0.483																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(889-891)Ctc>Atc		T-box 3							112.0	103.0	106.0					12																	115114268		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114268G>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.949C>A	12.37:g.115114268G>T	ENSP00000257566:p.Leu317Ile					TBX3_ENST00000257566.3_Missense_Mutation_p.L317I	p.L297I	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	1852	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		317					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.889C>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139386	0.77775	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89617	-2.51;-2.54	5.11	4.21	0.49690	.	0.174916	0.24206	U	0.040579	D	0.90758	0.7099	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.69078	0.959;0.997	P;D	0.72625	0.835;0.978	D	0.88930	0.3372	10	0.34782	T	0.22	.	12.0739	0.53632	0.0832:0.0:0.9168:0.0	.	297;317	O15119-2;O15119	.;TBX3_HUMAN	I	297;317;317	ENSP00000257567:L297I;ENSP00000257566:L317I	ENSP00000257566:L317I	L	-	1	0	TBX3	113598651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.082000	0.64450	2.363000	0.80096	0.655000	0.94253	CTC		0.483	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		4	56	1	0	2.56e-06	1	2.66106e-06	4	56				
TMEM187	8269	broad.mit.edu	37	X	153248052	153248052	+	Missense_Mutation	SNP	G	G	A	rs141589321		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153248052G>A	ENST00000369982.4	+	2	1286	c.539G>A	c.(538-540)cGc>cAc	p.R180H	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	180						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCTGCGCACCCACAGG	0.637																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(538-540)cGc>cAc		transmembrane protein 187		G	HIS/ARG	1,3834		0,1,1631,571	57.0	42.0	47.0		539	0.2	0.0	X	dbSNP_134	47	0,6728		0,0,2428,1872	no	missense	TMEM187	NM_003492.2	29	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	180/262	153248052	1,10562	2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153248052G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.539G>A	X.37:g.153248052G>A	ENSP00000358999:p.Arg180His						p.R180H	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1286	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		180					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.539G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566518	0.28003	2.61E-4	0.0	ENSG00000177854	ENST00000369982	T	0.25085	1.82	4.65	0.228	0.15364	.	0.570788	0.12951	N	0.425802	T	0.22936	0.0554	L	0.55103	1.725	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.21930	-1.0231	10	0.40728	T	0.16	.	9.4667	0.38817	0.4607:0.0:0.5393:0.0	.	180	Q14656	TM187_HUMAN	H	180	ENSP00000358999:R180H	ENSP00000358999:R180H	R	+	2	0	TMEM187	152901246	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.329000	0.19698	0.001000	0.14605	-0.409000	0.06214	CGC		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		14	2	0	0	0	1	0	14	2				
SLC16A14	151473	broad.mit.edu	37	2	230911012	230911012	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:230911012A>G	ENST00000295190.4	-	4	1288	c.830T>C	c.(829-831)aTg>aCg	p.M277T		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GAGGGCACACATGTTCTTCCT	0.587																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(829-831)aTg>aCg		solute carrier family 16, member 14							80.0	81.0	81.0					2																	230911012		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230911012A>G	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.830T>C	2.37:g.230911012A>G	ENSP00000295190:p.Met277Thr						p.M277T	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	4	1288	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	277					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.830T>C	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.740930	0.00675	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.08102	3.13;3.13;3.13	4.7	-0.357	0.12579	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.703700	0.00741	N	0.001003	T	0.09423	0.0232	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.40534	-0.9558	10	0.14656	T	0.56	.	8.4624	0.32936	0.6659:0.0:0.3341:0.0	.	277;277	E7EMG7;Q7RTX9	.;MOT14_HUMAN	T	277	ENSP00000295190:M277T;ENSP00000400352:M277T;ENSP00000395775:M277T	ENSP00000295190:M277T	M	-	2	0	SLC16A14	230619256	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.455000	0.21843	-0.212000	0.10109	0.459000	0.35465	ATG		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		17	54	0	0	0	1	0	17	54				
CRTC1	23373	broad.mit.edu	37	19	18879581	18879581	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:18879581C>T	ENST00000321949.8	+	10	1324	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	CRTC1_ENST00000594658.1_Missense_Mutation_p.S392L|CRTC1_ENST00000338797.6_Missense_Mutation_p.S449L|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GGCCAGCCATCGATGGGGATC	0.697																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1345-1347)tCg>tTg		CREB regulated transcription coactivator 1							16.0	17.0	17.0					19																	18879581		2199	4296	6495	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18879581C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1298C>T	19.37:g.18879581C>T	ENSP00000323332:p.Ser433Leu					CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.S433L|CRTC1_ENST00000594658.1_Missense_Mutation_p.S392L	p.S449L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			11	1371	+			433						Missense_Mutation	SNP	ENST00000321949.8	37	c.1346C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542844	0.27563	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	4.17	4.17	0.49024	.	0.829323	0.11110	N	0.598729	T	0.14743	0.0356	L	0.40543	1.245	0.09310	N	1	B;B;B	0.31680	0.335;0.144;0.217	B;B;B	0.26614	0.062;0.071;0.038	T	0.13872	-1.0493	10	0.11182	T	0.66	-7.586	15.8214	0.78648	0.0:1.0:0.0:0.0	.	433;449;433	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	433;449;433	ENSP00000345001:S449L;ENSP00000323332:S433L	ENSP00000262813:S433L	S	+	2	0	CRTC1	18740581	0.169000	0.23002	0.061000	0.19648	0.841000	0.47740	3.049000	0.49869	2.045000	0.60652	0.591000	0.81541	TCG		0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		6	1	0	0	0	1	0	6	1				
CEBPZ	10153	broad.mit.edu	37	2	37444157	37444157	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:37444157G>A	ENST00000234170.5	-	6	2323	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	726					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AAAGGGCCACGGAGGGATGAA	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2176-2178)tcC>tcT		CCAAT/enhancer binding protein (C/EBP), zeta							63.0	68.0	66.0					2																	37444157		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37444157G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2178C>T	2.37:g.37444157G>A							p.S726S	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			6	2323	-		all_hematologic(82;0.21)	726					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.2178C>T	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		4	58	0	0	0	1	0	4	58				
ACSBG1	23205	broad.mit.edu	37	15	78487032	78487032	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:78487032A>G	ENST00000258873.4	-	3	474	c.269T>C	c.(268-270)gTg>gCg	p.V90A	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	90					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGCAGGCGCACCCGCCCATC	0.642																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(268-270)gTg>gCg		acyl-CoA synthetase bubblegum family member 1							90.0	85.0	87.0					15																	78487032		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78487032A>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.269T>C	15.37:g.78487032A>G	ENSP00000258873:p.Val90Ala					ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron	p.V90A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			3	474	-			90					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.269T>C	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515664	0.64634	.	.	ENSG00000103740	ENST00000258873	T	0.10860	2.83	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.30947	0.0781	M	0.76727	2.345	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64410	0.925;0.831	T	0.03493	-1.1031	10	0.62326	D	0.03	-34.8028	13.7668	0.62999	1.0:0.0:0.0:0.0	.	90;90	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	A	90	ENSP00000258873:V90A	ENSP00000258873:V90A	V	-	2	0	ACSBG1	76274087	1.000000	0.71417	0.261000	0.24466	0.035000	0.12851	8.138000	0.89613	1.929000	0.55896	0.533000	0.62120	GTG		0.642	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		6	66	0	0	0	1	0	6	66				
FOXD4	2298	broad.mit.edu	37	9	118076	118076	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:118076C>T	ENST00000382500.2	-	1	341	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	15					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGGAGGCTGCGCTGCGGTGT	0.642																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(43-45)cGc>cAc		forkhead box D4							60.0	70.0	67.0					9																	118076		2180	4259	6439	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118076C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.44G>A	9.37:g.118076C>T	ENSP00000371940:p.Arg15His						p.R15H	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	341	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	15					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.44G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325924	0.24080	.	.	ENSG00000170122	ENST00000382500	D	0.95482	-3.72	2.14	-0.292	0.12839	.	0.798396	0.10231	U	0.699580	D	0.88276	0.6393	N	0.24115	0.695	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.77222	-0.2667	10	0.31617	T	0.26	.	4.7217	0.12922	0.0:0.5047:0.3285:0.1669	.	15	Q12950	FOXD4_HUMAN	H	15	ENSP00000371940:R15H	ENSP00000371940:R15H	R	-	2	0	FOXD4	108076	0.000000	0.05858	0.009000	0.14445	0.059000	0.15707	-0.100000	0.10990	0.114000	0.18032	0.291000	0.19559	CGC		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		32	46	0	0	0	1	0	32	46				
ABCC12	94160	broad.mit.edu	37	16	48121986	48121986	+	Silent	SNP	C	C	T	rs368132634		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48121986C>T	ENST00000311303.3	-	25	3831	c.3486G>A	c.(3484-3486)tcG>tcA	p.S1162S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1162	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S1162S(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCATTCCTAACGATGACTTTC	0.413																																						ENST00000311303.3																			1	Substitution - coding silent(1)	p.S1162S(1)	lung(1)	NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3484-3486)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12		C		0,4402		0,0,2201	59.0	51.0	54.0		3486	-11.9	0.0	16		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC12	NM_033226.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		1162/1360	48121986	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121986C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3486G>A	16.37:g.48121986C>T						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.S1162S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			25	3831	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1162			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3486G>A	CCDS10730.1																																																																																				0.413	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		11	23	0	0	0	1	0	11	23				
MINA	84864	broad.mit.edu	37	3	97677986	97677986	+	Missense_Mutation	SNP	C	C	T	rs199876198	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97677986C>T	ENST00000333396.7	-	4	1172	c.590G>A	c.(589-591)cGc>cAc	p.R197H	MINA_ENST00000394198.2_Missense_Mutation_p.R197H|MINA_ENST00000330299.2_Missense_Mutation_p.R197H|MINA_ENST00000360258.4_Missense_Mutation_p.R197H	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						GTGGTAGAGGCGCCAGTGTTT	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		14658	0.0		0.002	False		,,,				2504	0.0					ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(589-591)cGc>cAc		MYC induced nuclear antigen							62.0	53.0	56.0					3																	97677986		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97677986C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.590G>A	3.37:g.97677986C>T	ENSP00000328251:p.Arg197His					MINA_ENST00000394198.2_Missense_Mutation_p.R197H|MINA_ENST00000360258.4_Missense_Mutation_p.R197H|MINA_ENST00000330299.2_Missense_Mutation_p.R197H	p.R197H	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			4	1172	-			197			JmjC.			Missense_Mutation	SNP	ENST00000333396.7	37	c.590G>A	CCDS43114.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.4	4.139328	0.77775	.	.	ENSG00000170854	ENST00000333396;ENST00000394198;ENST00000360258;ENST00000330299;ENST00000507612	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.71	4.83	0.62350	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);RmlC-like jelly roll fold (1);	0.104471	0.64402	D	0.000007	T	0.40546	0.1121	M	0.78801	2.425	0.58432	D	0.999997	P;P	0.45715	0.837;0.865	B;P	0.47470	0.412;0.548	T	0.42999	-0.9418	10	0.59425	D	0.04	-6.9377	14.8812	0.70534	0.0:0.9309:0.0:0.0691	.	197;197	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	H	197;197;197;197;43	ENSP00000328251:R197H;ENSP00000377748:R197H;ENSP00000353395:R197H;ENSP00000327424:R197H;ENSP00000424530:R43H	ENSP00000327424:R197H	R	-	2	0	MINA	99160676	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.183000	0.58317	1.403000	0.46800	0.655000	0.94253	CGC		0.562	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		11	14	0	0	0	1	0	11	14				
CACNA1B	774	broad.mit.edu	37	9	140941391	140941391	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140941391G>A	ENST00000371372.1	+	22	3594	c.3449G>A	c.(3448-3450)aGg>aAg	p.R1150K	CACNA1B_ENST00000545473.1_Missense_Mutation_p.R176K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1151K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1150K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1151K|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R342K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1150K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1150					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGACCATGAGGTACTTCGAG	0.642																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1024-1026)aGg>aAg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						52.0	56.0	54.0					9																	140941391		2157	4250	6407	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140941391G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3449G>A	9.37:g.140941391G>A	ENSP00000360423:p.Arg1150Lys					CACNA1B_ENST00000545473.1_Missense_Mutation_p.R176K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1151K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1151K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1150K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1150K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1150K	p.R342K			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	22	3594	+	all_cancers(76;0.166)		1150					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1025G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269665	0.95429	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	N	0.11000	0.08	0.80722	D	1	B;B;B	0.15719	0.001;0.014;0.014	B;B;B	0.22386	0.002;0.039;0.039	T	0.08889	-1.0700	10	0.51188	T	0.08	.	17.4399	0.87562	0.0:0.0:1.0:0.0	.	1150;1151;1150	B1AQK4;B1AQK7;B1AQK6	.;.;.	K	1150;1150;342;1150;1151;1151;176	ENSP00000360423:R1150K;ENSP00000277551:R1150K;ENSP00000277549:R342K;ENSP00000360414:R1150K;ENSP00000360408:R1151K;ENSP00000360406:R1151K;ENSP00000441232:R176K	ENSP00000277549:R342K	R	+	2	0	CACNA1B	140061212	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.608000	0.67654	2.416000	0.81992	0.561000	0.74099	AGG		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	16	0	0	0	1	0	9	16				
PTPRH	5794	broad.mit.edu	37	19	55698949	55698949	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:55698949C>A	ENST00000376350.3	-	14	2520	c.2498G>T	c.(2497-2499)aGc>aTc	p.S833I	PTPRH_ENST00000263434.5_Missense_Mutation_p.S655I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	833	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGAGACTGGCTGTGGCCCAC	0.587																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2497-2499)aGc>aTc		protein tyrosine phosphatase, receptor type, H							95.0	77.0	83.0					19																	55698949		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55698949C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2498G>T	19.37:g.55698949C>A	ENSP00000365528:p.Ser833Ile					PTPRH_ENST00000263434.5_Missense_Mutation_p.S655I	p.S833I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	14	2520	-		Renal(1328;0.245)	833			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2498G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198220	0.38806	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11385	2.78;2.78	5.11	-4.36	0.03645	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	1.227220	0.06040	N	0.654638	T	0.06781	0.0173	N	0.25094	0.71	0.09310	N	1	P;P	0.51653	0.947;0.947	B;B	0.41374	0.355;0.355	T	0.35276	-0.9795	10	0.66056	D	0.02	.	5.9737	0.19367	0.0:0.2788:0.2407:0.4805	.	655;833	C9JCH2;Q9HD43	.;PTPRH_HUMAN	I	833;655	ENSP00000365528:S833I;ENSP00000263434:S655I	ENSP00000263434:S655I	S	-	2	0	PTPRH	60390761	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.072000	0.14617	-0.542000	0.06249	-0.136000	0.14681	AGC		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			16	22	1	0	1.45105e-14	1	1.58388e-14	16	22				
TRIM58	25893	broad.mit.edu	37	1	248039230	248039230	+	Silent	SNP	G	G	A	rs369174039		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248039230G>A	ENST00000366481.3	+	6	948	c.900G>A	c.(898-900)gcG>gcA	p.A300A	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGCCACGGCGCACCCGAGTC	0.547																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(898-900)gcG>gcA		tripartite motif containing 58		A		1,4405	2.1+/-5.4	0,1,2202	64.0	62.0	62.0		900	-7.9	0.0	1		62	0,8600		0,0,4300	no	coding-synonymous	TRIM58	NM_015431.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		300/487	248039230	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248039230G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.900G>A	1.37:g.248039230G>A						OR2W3_ENST00000537741.1_5'UTR	p.A300A	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	948	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	300			B30.2/SPRY.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.900G>A	CCDS1636.1																																																																																				0.547	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		8	15	0	0	0	1	0	8	15				
LCT	3938	broad.mit.edu	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A	rs183725992		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21694	0.0		0.0	False		,,,				2504	0.0					ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(5380-5382)gCg>gTg		lactase							143.0	136.0	138.0					2																	136547323		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136547323G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val						p.A1794V	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	16	5391	-			1794			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5381C>T	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		13	22	0	0	0	1	0	13	22				
CSMD2	114784	broad.mit.edu	37	1	33985438	33985438	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:33985438G>A	ENST00000373381.4	-	69	10886	c.10710C>T	c.(10708-10710)ggC>ggT	p.G3570G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGCACGAAGCCCGCAATAA	0.627																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10708-10710)ggC>ggT		CUB and Sushi multiple domains 2							46.0	46.0	46.0					1																	33985438		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985438G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10710C>T	1.37:g.33985438G>A							p.G3570G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			69	10886	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3426					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10710C>T																																																																																					0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	36	0	0	0	1	0	5	36				
ASB17	127247	broad.mit.edu	37	1	76397784	76397784	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:76397784C>T	ENST00000284142.6	-	1	332	c.193G>A	c.(193-195)Gca>Aca	p.A65T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	65					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTGAGTAGTGCGTCAAAACCA	0.388																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(193-195)Gca>Aca		ankyrin repeat and SOCS box containing 17							152.0	139.0	144.0					1																	76397784		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397784C>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.193G>A	1.37:g.76397784C>T	ENSP00000284142:p.Ala65Thr						p.A65T	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	332	-			65					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.193G>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435017	0.25813	.	.	ENSG00000154007	ENST00000284142	T	0.30714	1.52	6.08	-5.66	0.02451	.	1.248040	0.05458	N	0.550632	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	10	0.26408	T	0.33	.	4.8908	0.13726	0.4931:0.3088:0.0:0.1981	.	65	Q8WXJ9	ASB17_HUMAN	T	65	ENSP00000284142:A65T	ENSP00000284142:A65T	A	-	1	0	ASB17	76170372	0.009000	0.17119	0.399000	0.26333	0.015000	0.08874	-1.811000	0.01728	-0.476000	0.06842	-1.251000	0.01509	GCA		0.388	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		29	35	0	0	0	1	0	29	35				
ATXN2	6311	broad.mit.edu	37	12	111923111	111923111	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:111923111G>A	ENST00000377617.3	-	18	3123	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	ATXN2_ENST00000389153.4_Missense_Mutation_p.P723S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P723S|ATXN2_ENST00000550104.1_Intron|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000535949.1_Missense_Mutation_p.P699S|ATXN2_ENST00000608853.1_Missense_Mutation_p.P828S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	988	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGGCATGGGCGTCATAGGT	0.368																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2962-2964)Ccc>Tcc		ataxin 2							207.0	194.0	198.0					12																	111923111		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111923111G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2962C>T	12.37:g.111923111G>A	ENSP00000366843:p.Pro988Ser					ATXN2_ENST00000389153.4_Missense_Mutation_p.P723S|ATXN2_ENST00000550104.1_Intron|ATXN2_ENST00000542287.2_Missense_Mutation_p.P723S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P699S	p.P988S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			18	3123	-			988			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2962C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423894	0.11928	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949	T	0.61392	0.11	5.78	5.78	0.91487	.	0.051673	0.85682	D	0.000000	T	0.34803	0.0910	N	0.03608	-0.345	0.80722	D	1	P;B;P;B	0.48407	0.91;0.131;0.459;0.4	B;B;B;B	0.42462	0.388;0.027;0.173;0.085	T	0.28459	-1.0043	10	0.15499	T	0.54	-9.8878	14.7965	0.69881	0.0:0.0:0.8558:0.1442	.	988;699;723;723	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	S	41;723;988;723;699	ENSP00000366843:P988S	ENSP00000366843:P988S	P	-	1	0	ATXN2	110407494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.738000	0.93877	0.591000	0.81541	CCC		0.368	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		16	140	0	0	0	1	0	16	140				
TRAPPC12	51112	broad.mit.edu	37	2	3461427	3461427	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:3461427C>T	ENST00000324266.5	+	7	1761	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	TRAPPC12_ENST00000382110.2_Silent_p.D522D|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	522					vesicle-mediated transport (GO:0016192)												TAGCAGAAGACGGCGGCATGA	0.493																																						ENST00000324266.5																			0											c.(1564-1566)gaC>gaT		trafficking protein particle complex 12							94.0	87.0	89.0					2																	3461427		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3461427C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1566C>T	2.37:g.3461427C>T						TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Silent_p.D522D	p.D522D	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			7	1761	+			522					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.1566C>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.652|0.652	-0.809094|-0.809094	0.02819|0.02819	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000441983	.|.	.|.	.|.	5.1|5.1	-3.82|-3.82	0.04281|0.04281	.|.	.|.	.|.	.|.	.|.	T|T	0.62708|0.62708	0.2450|0.2450	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60880|0.60880	-0.7175|-0.7175	4|4	.|.	.|.	.|.	.|.	13.5155|13.5155	0.61539|0.61539	0.0:0.1762:0.0:0.8238|0.0:0.1762:0.0:0.8238	.|.	.|.	.|.	.|.	W|M	68|202	.|.	.|.	R|T	+|+	1|2	2|0	TTC15|TTC15	3440434|3440434	0.983000|0.983000	0.35010|0.35010	0.066000|0.066000	0.19879|0.19879	0.060000|0.060000	0.15804|0.15804	0.091000|0.091000	0.15046|0.15046	-0.931000|-0.931000	0.03746|0.03746	-0.670000|-0.670000	0.03821|0.03821	CGG|ACG		0.493	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		11	14	0	0	0	1	0	11	14				
COL26A1	136227	broad.mit.edu	37	7	101063367	101063367	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:101063367G>A	ENST00000397927.3	+	0	481				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGGGCCCTGCGCCAACCTCGT	0.652																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1							30.0	39.0	36.0					7																	101063367		1993	4158	6151			136227							g.chr7:101063367G>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063367G>A						COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA		NM_133457.2	NP_597714.2					0	460	+								Q32M90	RNA	SNP	ENST00000397927.3	37			.	.	.	.	.	.	.	.	.	.	G	11.35	1.613759	0.28712	.	.	ENSG00000160963	ENST00000313669	T	0.41400	1.0	4.95	2.78	0.32641	EMI domain (2);	0.447993	0.16437	N	0.214471	T	0.20740	0.0499	N	0.05031	-0.125	0.19945	N	0.999948	B;B	0.22211	0.066;0.066	B;B	0.17722	0.019;0.019	T	0.15435	-1.0437	10	0.35671	T	0.21	.	9.1777	0.37123	0.1937:0.0:0.8063:0.0	.	90;90	Q96A83;C9JPW4	EMID2_HUMAN;.	T	90	ENSP00000318234:A90T	ENSP00000318234:A90T	A	+	1	0	EMID2	100850087	0.954000	0.32549	0.927000	0.36925	0.954000	0.61252	1.556000	0.36288	0.986000	0.38683	0.558000	0.71614	GCC		0.652	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		20	31	0	0	0	1	0	20	31				
RPRD1A	55197	broad.mit.edu	37	18	33607203	33607203	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:33607203C>A	ENST00000399022.4	-	5	728	c.557G>T	c.(556-558)aGg>aTg	p.R186M	RPRD1A_ENST00000590898.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R186M|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R150M|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R186M	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	186					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AGAAGCTATCCTCTGATGAAC	0.373																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(556-558)aGg>aTg		regulation of nuclear pre-mRNA domain containing 1A							120.0	122.0	121.0					18																	33607203		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33607203C>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.557G>T	18.37:g.33607203C>A	ENSP00000381984:p.Arg186Met					RPRD1A_ENST00000588737.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R186M|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R186M|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R150M|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R150M	p.R186M	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			5	728	-			186					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.557G>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361614	0.82353	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;P;D	0.73708	0.981;0.827;0.976	T	0.80507	-0.1352	9	0.87932	D	0	-12.9806	16.6337	0.85040	0.0:1.0:0.0:0.0	.	186;186;150	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	M	186;186;150;186	.	ENSP00000314602:R186M	R	-	2	0	RPRD1A	31861201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.747000	0.55134	2.583000	0.87209	0.650000	0.86243	AGG		0.373	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		22	91	1	0	3.7963e-18	1	4.18755e-18	22	91				
KLF1	10661	broad.mit.edu	37	19	12996949	12996949	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12996949C>T	ENST00000264834.4	-	2	135	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	32	Pro-rich.				cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTCGGAGCGCCACCACTG	0.687																																						ENST00000264834.4																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(94-96)cGc>cAc		Kruppel-like factor 1 (erythroid)							13.0	12.0	12.0					19																	12996949		2197	4292	6489	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12996949C>T	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.95G>A	19.37:g.12996949C>T	ENSP00000264834:p.Arg32His						p.R32H	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	2	135	-		Hepatocellular(1079;0.137)	32			Pro-rich.		Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.95G>A	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283158	0.80803	.	.	ENSG00000105610	ENST00000264834	T	0.12039	2.72	4.3	0.831	0.18860	.	0.387744	0.18277	N	0.146137	T	0.08358	0.0208	N	0.24115	0.695	0.20074	N	0.999933	B	0.18610	0.029	B	0.08055	0.003	T	0.26780	-1.0093	10	0.72032	D	0.01	.	7.3895	0.26901	0.0:0.6647:0.0:0.3353	.	32	Q13351	KLF1_HUMAN	H	32	ENSP00000264834:R32H	ENSP00000264834:R32H	R	-	2	0	KLF1	12857949	0.014000	0.17966	0.610000	0.28997	0.956000	0.61745	0.165000	0.16564	0.464000	0.27142	-0.258000	0.10820	CGC		0.687	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		13	12	0	0	0	1	0	13	12				
MAMDC4	158056	broad.mit.edu	37	9	139751935	139751935	+	Silent	SNP	C	C	T	rs371095605		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139751935C>T	ENST00000317446.2	+	18	2273	c.2223C>T	c.(2221-2223)tgC>tgT	p.C741C	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.C820C	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACTCAGACTGCGGCTTCTCCC	0.672																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2458-2460)tgC>tgT		MAM domain containing 4		C		1,4397		0,1,2198	36.0	44.0	41.0		2223	-4.2	0.9	9		41	0,8598		0,0,4299	no	coding-synonymous	MAMDC4	NM_206920.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		741/1138	139751935	1,12995	2199	4299	6498	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139751935C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2223C>T	9.37:g.139751935C>T						MAMDC4_ENST00000317446.2_Silent_p.C741C|MAMDC4_ENST00000485732.1_3'UTR	p.C820C			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	20	2510	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	820			MAM 5.			Silent	SNP	ENST00000317446.2	37	c.2460C>T	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	1.510	-0.549708	0.03996	2.27E-4	0.0	ENSG00000177943	ENST00000413647	.	.	.	4.09	-4.22	0.03800	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56595	-0.7953	4	.	.	.	-15.331	11.8166	0.52214	0.0:0.5399:0.0:0.4601	.	.	.	.	W	806	.	.	R	+	1	2	MAMDC4	138871756	0.000000	0.05858	0.874000	0.34290	0.006000	0.05464	-3.428000	0.00474	-0.569000	0.06030	-0.658000	0.03865	CGG		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		4	67	0	0	0	1	0	4	67				
C2orf73	129852	broad.mit.edu	37	2	54570911	54570911	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:54570911G>A	ENST00000398634.2	+	3	331	c.289G>A	c.(289-291)Gac>Aac	p.D97N	C2orf73_ENST00000405749.1_Missense_Mutation_p.D39N|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	97										breast(2)	2						ACCACCTTACGACTCTAAGAG	0.448																																						ENST00000398634.2																			0				breast(2)	2						c.(289-291)Gac>Aac		chromosome 2 open reading frame 73							78.0	78.0	78.0					2																	54570911		1872	4103	5975	SO:0001583	missense	129852							g.chr2:54570911G>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.289G>A	2.37:g.54570911G>A	ENSP00000381631:p.Asp97Asn					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.D39N	p.D97N	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	331	+			97					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.289G>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496130	0.85069	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.64483	0.2602	M	0.71581	2.175	0.43430	D	0.99559	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63910	-0.6530	10	0.54805	T	0.06	-12.932	16.5309	0.84359	0.0:0.0:1.0:0.0	.	39;97	B7ZM12;Q8N5S3	.;CB073_HUMAN	N	103;39;97;39	ENSP00000417971:D103N;ENSP00000385348:D39N;ENSP00000381631:D97N;ENSP00000389570:D39N	ENSP00000381631:D97N	D	+	1	0	C2orf73	54424415	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.501000	0.53325	2.885000	0.99019	0.655000	0.94253	GAC		0.448	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		15	27	0	0	0	1	0	15	27				
IFIT2	3433	broad.mit.edu	37	10	91066443	91066443	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:91066443C>T	ENST00000371826.3	+	2	899	c.730C>T	c.(730-732)Cca>Tca	p.P244S	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	244					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGAGAAAGCCCCAGGTGTAAC	0.438																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(730-732)Cca>Tca		interferon-induced protein with tetratricopeptide repeats 2							78.0	78.0	78.0					10																	91066443		1982	4180	6162	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066443C>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.730C>T	10.37:g.91066443C>T	ENSP00000360891:p.Pro244Ser					LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.P244S	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	899	+		Colorectal(252;0.0161)	244					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.730C>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410572	0.01145	.	.	ENSG00000119922	ENST00000371826	T	0.55234	0.53	4.58	3.68	0.42216	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.217055	0.38959	N	0.001505	T	0.43986	0.1272	L	0.37897	1.145	0.48087	D	0.999581	P	0.51351	0.944	P	0.46362	0.514	T	0.25502	-1.0130	10	0.11794	T	0.64	-2.3938	12.9167	0.58211	0.0:0.9202:0.0:0.0798	.	244	P09913	IFIT2_HUMAN	S	244	ENSP00000360891:P244S	ENSP00000360891:P244S	P	+	1	0	IFIT2	91056423	0.096000	0.21769	0.124000	0.21820	0.066000	0.16364	0.952000	0.29149	1.533000	0.49186	0.655000	0.94253	CCA		0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		26	41	0	0	0	1	0	26	41				
OR5H15	403274	broad.mit.edu	37	3	97887994	97887994	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:97887994G>A	ENST00000356526.2	+	1	451	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATATATAGCTGGTATTCT	0.368																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(451-453)Gct>Act		olfactory receptor, family 5, subfamily H, member 15							79.0	77.0	78.0					3																	97887994		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887994G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.451G>A	3.37:g.97887994G>A	ENSP00000373195:p.Ala151Thr						p.A151T	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	451	+			151						Missense_Mutation	SNP	ENST00000356526.2	37	c.451G>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	7.362	0.625067	0.14257	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37411	1.2	2.48	0.574	0.17368	GPCR, rhodopsin-like superfamily (1);	0.461413	0.18415	N	0.141947	T	0.14700	0.0355	N	0.04805	-0.155	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.20075	-1.0286	10	0.26408	T	0.33	.	6.2056	0.20600	0.2954:0.0:0.7046:0.0	.	151	A6NDH6	O5H15_HUMAN	T	151	ENSP00000373195:A151T	ENSP00000373195:A151T	A	+	1	0	OR5H15	99370684	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.940000	0.01543	0.370000	0.24538	0.184000	0.17185	GCT		0.368	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			36	97	0	0	0	1	0	36	97				
UGT2B10	7365	broad.mit.edu	37	4	69688049	69688049	+	Missense_Mutation	SNP	T	T	C	rs111420468		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:69688049T>C	ENST00000265403.7	+	3	955	c.928T>C	c.(928-930)Tca>Cca	p.S310P	UGT2B10_ENST00000458688.2_Missense_Mutation_p.S226P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	310					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCTCTGGGGTCAATGGTCAG	0.423																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(928-930)Tca>Cca		UDP glucuronosyltransferase 2 family, polypeptide B10							152.0	138.0	142.0					4																	69688049		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69688049T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.928T>C	4.37:g.69688049T>C	ENSP00000265403:p.Ser310Pro					UGT2B10_ENST00000458688.2_Missense_Mutation_p.S226P	p.S310P	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			3	955	+			310					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.928T>C		.	.	.	.	.	.	.	.	.	.	t	10.80	1.452868	0.26074	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.78364	-1.17;2.18	2.55	2.55	0.30701	.	0.000000	0.64402	U	0.000004	D	0.90841	0.7123	H	0.97983	4.12	0.24484	N	0.994333	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.82267	-0.0542	10	0.87932	D	0	.	8.3481	0.32286	0.0:0.0:0.0:1.0	.	226;310	B4DPP1;P36537	.;UDB10_HUMAN	P	310;226	ENSP00000265403:S310P;ENSP00000413420:S226P	ENSP00000265403:S310P	S	+	1	0	UGT2B10	69722638	0.975000	0.34042	0.530000	0.27963	0.027000	0.11550	2.437000	0.44828	1.031000	0.39867	0.155000	0.16302	TCA		0.423	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		9	150	0	0	0	1	0	9	150				
MMP25	64386	broad.mit.edu	37	16	3100101	3100101	+	Silent	SNP	C	C	T	rs373639552		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3100101C>T	ENST00000336577.4	+	3	561	c.324C>T	c.(322-324)taC>taT	p.Y108Y	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	123					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GTCGCCGGTACGCTCTGAGCG	0.701																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(322-324)taC>taT		matrix metallopeptidase 25		C		3,4391	6.2+/-15.9	0,3,2194	58.0	62.0	61.0		324	-7.1	0.0	16		61	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP25	NM_022468.4		0,5,6491	TT,TC,CC		0.0233,0.0683,0.0385		108/563	3100101	5,12987	2197	4299	6496	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100101C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.324C>T	16.37:g.3100101C>T						MMP25_ENST00000570755.1_3'UTR	p.Y108Y	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			3	561	+			108					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.324C>T	CCDS10492.1																																																																																				0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		19	38	0	0	0	1	0	19	38				
EIF4G3	8672	broad.mit.edu	37	1	21181537	21181537	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:21181537C>T	ENST00000264211.8	-	20	3393	c.3199G>A	c.(3199-3201)Gta>Ata	p.V1067I	EIF4G3_ENST00000374935.3_Missense_Mutation_p.V787I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V671I|EIF4G3_ENST00000602326.1_Missense_Mutation_p.V1073I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1073I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1067I|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V557I	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1067					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCTTTAGGTACCAGCTGAATT	0.408																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3217-3219)Gta>Ata		eukaryotic translation initiation factor 4 gamma, 3							177.0	156.0	163.0					1																	21181537		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21181537C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3199G>A	1.37:g.21181537C>T	ENSP00000264211:p.Val1067Ile					EIF4G3_ENST00000537738.1_Missense_Mutation_p.V557I|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V671I|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V787I|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1067I|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1073I|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V1067I	p.V1073I	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	24	3800	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1067					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3217G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450491	0.84101	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.06849	3.8;3.8;3.62;3.25;3.8;3.5	5.84	5.84	0.93424	.	0.057640	0.64402	D	0.000001	T	0.11196	0.0273	N	0.14661	0.345	0.80722	D	1	P;B;B;D;P	0.58620	0.925;0.138;0.321;0.983;0.944	P;B;B;P;P	0.49752	0.554;0.065;0.205;0.621;0.449	T	0.04373	-1.0956	10	0.72032	D	0.01	-15.0337	20.563	0.99327	0.0:1.0:0.0:0.0	.	1262;787;671;1073;1067	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	I	1067;1263;1067;787;557;1073;671	ENSP00000264211:V1067I;ENSP00000383274:V1067I;ENSP00000364071:V787I;ENSP00000442010:V557I;ENSP00000364073:V1073I;ENSP00000444693:V671I	ENSP00000264211:V1067I	V	-	1	0	EIF4G3	21054124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.036000	0.76524	2.937000	0.99478	0.650000	0.86243	GTA		0.408	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		12	71	0	0	0	1	0	12	71				
CCDC140	151278	broad.mit.edu	37	2	223168793	223168793	+	Missense_Mutation	SNP	C	C	T	rs545278450		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:223168793C>T	ENST00000295226.1	+	2	556	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	58										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGTAAACGCAACAGGTG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15395	0.0		0.0	False		,,,				2504	0.001					ENST00000295226.1																			0				endometrium(4)|large_intestine(1)|prostate(1)	6						c.(172-174)Cgc>Tgc		coiled-coil domain containing 140							56.0	57.0	57.0					2																	223168793		2203	4300	6503	SO:0001583	missense	151278							g.chr2:223168793C>T	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.172C>T	2.37:g.223168793C>T	ENSP00000295226:p.Arg58Cys						p.R58C	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	556	+		Renal(207;0.0376)	58						Missense_Mutation	SNP	ENST00000295226.1	37	c.172C>T	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522669	0.27211	.	.	ENSG00000163081	ENST00000295226	.	.	.	3.23	-3.32	0.04973	.	.	.	.	.	T	0.10252	0.0251	N	0.08118	0	0.09310	N	1	B	0.32051	0.354	B	0.16722	0.016	T	0.15009	-1.0452	8	0.87932	D	0	.	0.8309	0.01130	0.1532:0.2275:0.3021:0.3172	.	58	Q96MF4	CC140_HUMAN	C	58	.	ENSP00000295226:R58C	R	+	1	0	CCDC140	222877037	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.210000	0.02999	-0.897000	0.03910	-0.175000	0.13238	CGC		0.592	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		7	9	0	0	0	1	0	7	9				
PCDH9	5101	broad.mit.edu	37	13	67801545	67801545	+	Missense_Mutation	SNP	G	G	A	rs141436710		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:67801545G>A	ENST00000377865.2	-	1	1162	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	PCDH9_ENST00000456367.1_Missense_Mutation_p.T343M|PCDH9_ENST00000377861.3_Missense_Mutation_p.T343M|PCDH9_ENST00000544246.1_Missense_Mutation_p.T343M|PCDH9_ENST00000328454.5_Missense_Mutation_p.T343M			Q9HC56	PCDH9_HUMAN	protocadherin 9	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATGGTAACCGTTGCTCGAGC	0.463																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1027-1029)aCg>aTg		protocadherin 9		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	119.0	117.0	118.0		1028,1028	5.3	1.0	13	dbSNP_134	118	0,8600		0,0,4300	no	missense,missense	PCDH9	NM_020403.4,NM_203487.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	343/1204,343/1238	67801545	1,13005	2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801545G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1028C>T	13.37:g.67801545G>A	ENSP00000367096:p.Thr343Met					PCDH9_ENST00000377861.3_Missense_Mutation_p.T343M|PCDH9_ENST00000328454.5_Missense_Mutation_p.T343M|PCDH9_ENST00000456367.1_Missense_Mutation_p.T343M|PCDH9_ENST00000377865.2_Missense_Mutation_p.T343M	p.T343M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1719	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	343			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1028C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202046	0.22121	2.27E-4	0.0	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	6.17	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	L	0.46567	1.45	0.80722	D	1	P;P;P;P	0.44946	0.846;0.533;0.649;0.698	P;B;B;B	0.47299	0.543;0.183;0.29;0.414	T	0.48779	-0.9005	10	0.25106	T	0.35	.	15.7894	0.78343	0.065:0.0:0.935:0.0	.	343;343;343;343	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	343	ENSP00000442186:T343M;ENSP00000367096:T343M;ENSP00000401699:T343M;ENSP00000332060:T343M;ENSP00000367092:T343M	ENSP00000332060:T343M	T	-	2	0	PCDH9	66699546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.025000	0.88777	1.626000	0.50381	0.655000	0.94253	ACG		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		39	16	0	0	0	1	0	39	16				
TXNRD1	7296	broad.mit.edu	37	12	104709674	104709674	+	Splice_Site	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:104709674G>C	ENST00000529546.1	+	4	391	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	TXNRD1_ENST00000542918.1_Splice_Site_p.V144L|TXNRD1_ENST00000354940.6_Splice_Site_p.V94L|TXNRD1_ENST00000525566.1_Splice_Site_p.V244L|TXNRD1_ENST00000526390.1_Splice_Site_p.V138L|TXNRD1_ENST00000524698.1_Splice_Site_p.V94L|TXNRD1_ENST00000378070.4_Splice_Site_p.V193L|TXNRD1_ENST00000397736.2_Splice_Site_p.V138L|TXNRD1_ENST00000427956.1_Splice_Site_p.V209L|TXNRD1_ENST00000526950.1_Splice_Site_p.V163L|TXNRD1_ENST00000503506.2_Splice_Site_p.V94L|TXNRD1_ENST00000388854.3_Splice_Site_p.V146L|TXNRD1_ENST00000540716.1_Splice_Site_p.V56L|TXNRD1_ENST00000526691.1_Splice_Site_p.V146L|TXNRD1_ENST00000429002.2_Splice_Site_p.V244L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	244	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CGAGGAGACAGGTATGAGAGG	0.433																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.e5+1		thioredoxin reductase 1							73.0	71.0	71.0					12																	104709674		1912	4126	6038	SO:0001630	splice_region_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104709674G>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.166+1G>C	12.37:g.104709674G>C						TXNRD1_ENST00000526950.1_Splice_Site_p.V163_splice|TXNRD1_ENST00000526390.1_Splice_Site_p.V138_splice|TXNRD1_ENST00000525566.1_Splice_Site_p.V244_splice|TXNRD1_ENST00000524698.1_Splice_Site_p.V94_splice|TXNRD1_ENST00000503506.2_Splice_Site_p.V94_splice|TXNRD1_ENST00000427956.1_Splice_Site_p.V209_splice|TXNRD1_ENST00000397736.2_Splice_Site_p.V138_splice|TXNRD1_ENST00000388854.3_Splice_Site_p.V146_splice|TXNRD1_ENST00000378070.4_Splice_Site_p.V193_splice|TXNRD1_ENST00000354940.6_Splice_Site_p.V94_splice|TXNRD1_ENST00000542918.1_Splice_Site_p.V144_splice|TXNRD1_ENST00000540716.1_Splice_Site_p.V56_splice|TXNRD1_ENST00000529546.1_Splice_Site_p.V56_splice|TXNRD1_ENST00000429002.2_Splice_Site_p.V244_splice	p.V146_splice	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			5	892	+			244			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000529546.1	37	c.436_splice	CCDS58274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342292|2.342292	0.41498|0.41498	.|.	.|.	ENSG00000198431|ENSG00000198431	ENST00000531691|ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000526580;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877|0.67171	-1.13|-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.25;-0.25;0.99;-0.17;-0.17;-0.17;-0.13;-0.17;-0.17;-0.17	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.169495	.|0.51477	.|D	.|0.000082	T|T	0.65217|0.65217	0.2670|0.2670	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.25007	.|0.013;0.0;0.116;0.001;0.0;0.002;0.002	.|B;B;B;B;B;B;B	.|0.26614	.|0.03;0.002;0.071;0.002;0.001;0.008;0.008	T|T	0.64854|0.64854	-0.6309|-0.6309	7|10	0.46703|0.72032	T|D	0.11|0.01	-20.4621|-20.4621	13.3423|13.3423	0.60551|0.60551	0.0717:0.0:0.9283:0.0|0.0717:0.0:0.9283:0.0	.|.	.|144;138;244;146;94;244;209	.|B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.|.;.;.;.;.;TRXR1_HUMAN;.	R|L	138|244;244;94;146;146;94;138;56;56;94;94;144;193;94;138;209;163	ENSP00000431925:G138R|ENSP00000434516:V244L;ENSP00000412045:V244L;ENSP00000421934:V94L;ENSP00000435929:V146L;ENSP00000373506:V146L;ENSP00000347020:V94L;ENSP00000435123:V138L;ENSP00000434919:V56L;ENSP00000442709:V56L;ENSP00000433887:V94L;ENSP00000433425:V94L;ENSP00000440978:V144L;ENSP00000367310:V193L;ENSP00000433599:V94L;ENSP00000380844:V138L;ENSP00000393328:V209L;ENSP00000432812:V163L	ENSP00000431925:G138R|ENSP00000347020:V94L	G|V	+|+	1|1	0|0	TXNRD1|TXNRD1	103233804|103233804	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.342000|0.342000	0.28953|0.28953	6.691000|6.691000	0.74573|0.74573	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	GGT|GTT		0.433	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	Missense_Mutation	12	12	0	0	0	1	0	12	12				
TIGD3	220359	broad.mit.edu	37	11	65123835	65123835	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65123835C>T	ENST00000309880.5	+	2	763	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	186	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGGGCAGTGCCCGGCAGCTT	0.602																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(556-558)Ccc>Tcc		tigger transposable element derived 3							110.0	118.0	115.0					11																	65123835		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123835C>T		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.556C>T	11.37:g.65123835C>T	ENSP00000308354:p.Pro186Ser						p.P186S	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	763	+			186			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.556C>T	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661026	0.67700	.	.	ENSG00000173825	ENST00000309880	T	0.44482	0.92	4.0	4.0	0.46444	.	0.000000	0.34025	N	0.004323	T	0.57902	0.2085	L	0.58810	1.83	0.32422	N	0.549173	D	0.89917	1.0	D	0.87578	0.998	T	0.66272	-0.5965	10	0.56958	D	0.05	-10.301	11.8499	0.52405	0.0:1.0:0.0:0.0	.	186	Q6B0B8	TIGD3_HUMAN	S	186	ENSP00000308354:P186S	ENSP00000308354:P186S	P	+	1	0	TIGD3	64880411	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	3.704000	0.54815	2.260000	0.74910	0.456000	0.33151	CCC		0.602	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		74	95	0	0	0	1	0	74	95				
CCDC30	728621	broad.mit.edu	37	1	43047172	43047172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:43047172G>T	ENST00000340612.4	+	7	1207	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E192*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E403*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.E403*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E192*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	403						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATATCAAGAAGAACAACAGAA	0.373																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1207-1209)Gaa>Taa		coiled-coil domain containing 30							89.0	84.0	86.0					1																	43047172		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43047172G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1207G>T	1.37:g.43047172G>T	ENSP00000340378:p.Glu403*					CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E403*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E192*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E192*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.E403*	p.E403*			Q5VVM6	CCD30_HUMAN			15	2350	+			403					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.1207G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040923	0.93685	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.39	4.48	0.54585	.	0.165981	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.067	0.53594	0.0837:0.0:0.9163:0.0	.	.	.	.	X	403;192;403;403;192	.	ENSP00000340378:E403X	E	+	1	0	CCDC30	42819759	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	5.703000	0.68340	1.409000	0.46915	0.650000	0.86243	GAA		0.373	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		15	23	1	0	2.32078e-09	1	2.46314e-09	15	23				
CD2AP	23607	broad.mit.edu	37	6	47563637	47563637	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:47563637A>G	ENST00000359314.5	+	12	1605	c.1149A>G	c.(1147-1149)gcA>gcG	p.A383A		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	383	Pro-rich.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTAAACCAGCAGCTCCACAAG	0.363																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1147-1149)gcA>gcG		CD2-associated protein							199.0	220.0	213.0					6																	47563637		2203	4300	6503	SO:0001819	synonymous_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47563637A>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1149A>G	6.37:g.47563637A>G							p.A383A	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		12	1605	+			383			Pro-rich.		A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	c.1149A>G	CCDS34472.1																																																																																				0.363	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			63	98	0	0	0	1	0	63	98				
ZP2	7783	broad.mit.edu	37	16	21210894	21210894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:21210894G>A	ENST00000574002.1	-	17	2406	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	ZP2_ENST00000219593.4_Nonsense_Mutation_p.R642*|ZP2_ENST00000574091.1_Nonsense_Mutation_p.R633*|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	642					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTTTTACCTCGCCTGTGCCTA	0.433																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1924-1926)Cga>Tga		zona pellucida glycoprotein 2 (sperm receptor)							86.0	85.0	85.0					16																	21210894		2200	4300	6500	SO:0001587	stop_gained	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21210894G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1924C>T	16.37:g.21210894G>A	ENSP00000460971:p.Arg642*					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.R633*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.R642*	p.R642*			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	17	2406	-			642					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	37	c.1924C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	37	6.317537	0.97467	.	.	ENSG00000103310	ENST00000219593	.	.	.	5.73	-4.14	0.03892	.	0.255455	0.26000	N	0.026948	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1122	0.20108	0.1962:0.0:0.3812:0.4227	.	.	.	.	X	642	.	ENSP00000219593:R642X	R	-	1	2	ZP2	21118395	0.155000	0.22806	0.012000	0.15200	0.805000	0.45488	0.290000	0.18975	-0.411000	0.07530	-0.313000	0.08912	CGA		0.433	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			4	10	0	0	0	1	0	4	10				
RHCG	51458	broad.mit.edu	37	15	90030153	90030153	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:90030153C>T	ENST00000268122.4	-	2	316	c.248G>A	c.(247-249)cGc>cAc	p.R83H	RHCG_ENST00000544600.1_Missense_Mutation_p.R83H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	83					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GAAGCCGTAGCGCTGCAGGAA	0.627																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(247-249)cGc>cAc		Rh family, C glycoprotein							73.0	62.0	66.0					15																	90030153		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90030153C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.248G>A	15.37:g.90030153C>T	ENSP00000268122:p.Arg83His					RHCG_ENST00000544600.1_Missense_Mutation_p.R83H	p.R83H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			2	316	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		83					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.248G>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	c	34	5.407356	0.96051	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.34859	1.34;1.34	4.85	4.85	0.62838	Ammonium transporter AmtB-like (3);	0.048930	0.85682	D	0.000000	T	0.70544	0.3236	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.81223	-0.1030	9	.	.	.	-21.7095	17.9853	0.89154	0.0:1.0:0.0:0.0	.	83	Q9UBD6	RHCG_HUMAN	H	83;83;74	ENSP00000438123:R83H;ENSP00000268122:R83H	.	R	-	2	0	RHCG	87831157	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.780000	0.85658	2.250000	0.74265	0.550000	0.68814	CGC		0.627	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		12	13	0	0	0	1	0	12	13				
CBX4	8535	broad.mit.edu	37	17	77808244	77808244	+	Silent	SNP	G	G	A	rs3833850		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:77808244G>A	ENST00000269397.4	-	5	1374	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	399	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGACGGCgtggtggtggtggt	0.711																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1195-1197)caC>caT		chromobox homolog 4							5.0	7.0	6.0					17																	77808244		2046	4040	6086	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808244G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1197C>T	17.37:g.77808244G>A							p.H399H	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1374	-			399			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.1197C>T	CCDS32758.1																																																																																				0.711	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		3	5	0	0	0	1	0	3	5				
AP2A1	160	broad.mit.edu	37	19	50285952	50285952	+	Silent	SNP	C	C	T	rs376406307		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50285952C>T	ENST00000359032.5	+	4	444	c.444C>T	c.(442-444)gcC>gcT	p.A148A	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Silent_p.A148A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	148					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AGGCCTTTGCCGCTGACATCC	0.667																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(442-444)gcC>gcT		adaptor-related protein complex 2, alpha 1 subunit		C	,	1,4311		0,1,2155	22.0	23.0	23.0		444,444	-4.7	0.8	19		23	0,8502		0,0,4251	no	coding-synonymous,coding-synonymous	AP2A1	NM_014203.2,NM_130787.2	,	0,1,6406	TT,TC,CC		0.0,0.0232,0.0078	,	148/978,148/956	50285952	1,12813	2156	4251	6407	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50285952C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.444C>T	19.37:g.50285952C>T						AP2A1_ENST00000359032.5_Silent_p.A148A|AP2A1_ENST00000600199.1_3'UTR	p.A148A	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	4	610	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	148					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.444C>T	CCDS46148.1																																																																																				0.667	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	6	0	0	0	1	0	5	6				
LMBR1	64327	broad.mit.edu	37	7	156549095	156549095	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156549095C>T	ENST00000353442.5	-	9	985	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	LMBR1_ENST00000354505.4_Missense_Mutation_p.R250Q|LMBR1_ENST00000540390.1_Missense_Mutation_p.R229Q|LMBR1_ENST00000359422.4_Missense_Mutation_p.R98Q	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	250					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ACCATTTAGTCGTCTCTGGAG	0.269																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(748-750)cGa>cAa		limb development membrane protein 1							69.0	75.0	73.0					7																	156549095		2202	4292	6494	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156549095C>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.749G>A	7.37:g.156549095C>T	ENSP00000326604:p.Arg250Gln					LMBR1_ENST00000359422.4_Missense_Mutation_p.R98Q|LMBR1_ENST00000354505.4_Missense_Mutation_p.R250Q|LMBR1_ENST00000540390.1_Missense_Mutation_p.R229Q	p.R250Q	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	9	985	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	250					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.749G>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434690	0.62955	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.53	5.53	0.82687	LMBR1-like membrane protein (1);	0.094092	0.64402	D	0.000001	T	0.30198	0.0757	L	0.52011	1.625	0.44890	D	0.9979	P;P;P	0.47484	0.572;0.896;0.574	B;B;B	0.43123	0.14;0.409;0.086	T	0.06409	-1.0828	10	0.66056	D	0.02	-7.4232	9.7124	0.40254	0.0:0.842:0.0:0.158	.	229;250;250	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	Q	250;98;248;250;229	ENSP00000326604:R250Q;ENSP00000352392:R98Q;ENSP00000408256:R248Q;ENSP00000346500:R250Q;ENSP00000445509:R229Q	ENSP00000326604:R250Q	R	-	2	0	LMBR1	156241856	0.999000	0.42202	0.998000	0.56505	0.758000	0.43043	1.812000	0.38952	2.605000	0.88082	0.655000	0.94253	CGA		0.269	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		25	44	0	0	0	1	0	25	44				
TTN	7273	broad.mit.edu	37	2	179593390	179593390	+	Silent	SNP	G	G	A	rs552531581		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179593390G>A	ENST00000591111.1	-	64	18536	c.18312C>T	c.(18310-18312)gaC>gaT	p.D6104D	TTN_ENST00000342992.6_Silent_p.D5177D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.D6421D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12891	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTTCCCGTCTTTAAGCC	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20105	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19261-19263)gaC>gaT		titin							100.0	89.0	93.0					2																	179593390		1851	4099	5950	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593390G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18312C>T	2.37:g.179593390G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D6104D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D5177D|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	p.D6421D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	19487	-			6104			Ig-like 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19263C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	12	0	0	0	1	0	11	12				
C10orf54	64115	broad.mit.edu	37	10	73515118	73515118	+	Missense_Mutation	SNP	C	C	T	rs138900194		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:73515118C>T	ENST00000394957.3	-	4	732	c.674G>A	c.(673-675)cGc>cAc	p.R225H	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	225					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATACTCACGGCGGTTGGAGGC	0.642																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(673-675)cGc>cAc		chromosome 10 open reading frame 54							34.0	29.0	31.0					10																	73515118		2202	4296	6498	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73515118C>T	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.674G>A	10.37:g.73515118C>T	ENSP00000378409:p.Arg225His					CDH23_ENST00000224721.6_Intron	p.R225H	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			4	732	-			225					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.674G>A	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883069	0.72410	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.59502	0.26	5.22	3.37	0.38596	.	0.085303	0.85682	N	0.000000	T	0.53384	0.1793	M	0.68952	2.095	0.58432	D	0.999998	B;B	0.27416	0.08;0.178	B;B	0.21151	0.019;0.033	T	0.54397	-0.8300	10	0.87932	D	0	-3.6358	11.2539	0.49041	0.0:0.8513:0.0:0.1487	.	225;225	A4ZYV1;Q9H7M9	.;GI24_HUMAN	H	225;221	ENSP00000378409:R225H	ENSP00000263569:R221H	R	-	2	0	C10orf54	73185124	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.324000	0.52022	0.596000	0.29794	0.462000	0.41574	CGC		0.642	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		3	5	0	0	0	1	0	3	5				
EEF1G	1937	broad.mit.edu	37	11	62327564	62327564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62327564G>A	ENST00000329251.4	-	9	1262	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Nonsense_Mutation_p.R428*	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	378	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGGCCTCGGAAGACCCAG	0.507																																						ENST00000378019.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1282-1284)Cga>Tga		eukaryotic translation elongation factor 1 gamma							76.0	74.0	75.0					11																	62327564		1879	4104	5983	SO:0001587	stop_gained	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62327564G>A	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.1132C>T	11.37:g.62327564G>A	ENSP00000331901:p.Arg378*					MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Nonsense_Mutation_p.R378*	p.R428*			P26641	EF1G_HUMAN			9	1372	-			378			EF-1-gamma C-terminal.		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP	ENST00000329251.4	37	c.1282C>T	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610712	0.87258	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	4.82	1.76	0.24704	.	0.051652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9621	0.53015	0.0:0.0:0.3548:0.6452	.	.	.	.	X	378;428;147	.	ENSP00000331901:R378X	R	-	1	2	EEF1G	62084140	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.922000	0.48860	0.200000	0.20447	-0.357000	0.07601	CGA		0.507	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404		26	47	0	0	0	1	0	26	47				
ARHGEF12	23365	broad.mit.edu	37	11	120298824	120298824	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:120298824G>A	ENST00000397843.2	+	8	619	c.453G>A	c.(451-453)tcG>tcA	p.S151S	ARHGEF12_ENST00000356641.3_Silent_p.S132S|ARHGEF12_ENST00000532993.1_Silent_p.S48S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	151	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CACCTGGGTCGCCCCAGATTC	0.517			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(451-453)tcG>tcA		Rho guanine nucleotide exchange factor (GEF) 12							151.0	149.0	149.0					11																	120298824		1863	4108	5971	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120298824G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.453G>A	11.37:g.120298824G>A						ARHGEF12_ENST00000532993.1_Silent_p.S48S|ARHGEF12_ENST00000356641.3_Silent_p.S132S	p.S151S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	8	619	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	151			PDZ.		O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.453G>A	CCDS41727.1																																																																																				0.517	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		9	145	0	0	0	1	0	9	145				
TTC4	7268	broad.mit.edu	37	1	55207181	55207181	+	Nonsense_Mutation	SNP	C	C	T	rs200228539		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55207181C>T	ENST00000371281.3	+	10	1246	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	387										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GTACCAGATACGATGACTAAG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19064	0.001		0.0	False		,,,				2504	0.0					ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(1159-1161)Cga>Tga		tetratricopeptide repeat domain 4							81.0	84.0	83.0					1																	55207181		2203	4300	6503	SO:0001587	stop_gained	7268						binding	g.chr1:55207181C>T		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1159C>T	1.37:g.55207181C>T	ENSP00000360329:p.Arg387*					TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.R387*	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			10	1246	+			387					Q53Y95|Q5TA96|Q9H3I2	Nonsense_Mutation	SNP	ENST00000371281.3	37	c.1159C>T	CCDS596.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.64	3.439464	0.63067	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	.	.	.	5.1	-0.219	0.13135	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	3.4176	0.07381	0.3546:0.4306:0.0803:0.1344	.	.	.	.	X	387;398	.	ENSP00000360329:R387X	R	+	1	2	TTC4	54979769	0.860000	0.29831	0.124000	0.21820	0.193000	0.23685	1.201000	0.32259	-0.108000	0.12066	-1.059000	0.02297	CGA		0.512	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		25	52	0	0	0	1	0	25	52				
TRIOBP	11078	broad.mit.edu	37	22	38119905	38119905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:38119905C>T	ENST00000406386.3	+	7	1597	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	448					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TAGAGCTACACGAGACAACCC	0.587																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1342-1344)Cga>Tga		TRIO and F-actin binding protein							56.0	59.0	58.0					22																	38119905		1863	4091	5954	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119905C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1342C>T	22.37:g.38119905C>T	ENSP00000384312:p.Arg448*					RP1-37E16.12_ENST00000455236.1_RNA	p.R448*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1597	+	Melanoma(58;0.0574)		448					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.1342C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225146	0.79576	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	2.05	0.865	0.19074	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	5.6154	0.17428	0.3218:0.6782:0.0:0.0	.	.	.	.	X	448	.	ENSP00000384312:R448X	R	+	1	2	TRIOBP	36449851	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.262000	0.01175	0.165000	0.19558	0.121000	0.15741	CGA		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	29	0	0	0	1	0	15	29				
OR51V1	283111	broad.mit.edu	37	11	5221608	5221608	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:5221608G>A	ENST00000321255.1	-	1	322	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGGACTGGGCAATGCAGGA	0.522																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(322-324)gCc>gTc		olfactory receptor, family 51, subfamily V, member 1							62.0	59.0	60.0					11																	5221608		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221608G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.323C>T	11.37:g.5221608G>A	ENSP00000321729:p.Ala108Val						p.A108V	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	322	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	108						Missense_Mutation	SNP	ENST00000321255.1	37	c.323C>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345567	0.24426	.	.	ENSG00000176742	ENST00000321255	T	0.00940	5.52	5.48	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.926432	0.08898	N	0.877672	T	0.01156	0.0038	L	0.47716	1.5	0.09310	N	1	B	0.21071	0.051	B	0.29077	0.098	T	0.50717	-0.8795	10	0.11485	T	0.65	.	4.401	0.11386	0.3346:0.1711:0.4942:0.0	.	108	Q9H2C8	O51V1_HUMAN	V	108	ENSP00000321729:A108V	ENSP00000321729:A108V	A	-	2	0	OR51V1	5178184	0.000000	0.05858	0.069000	0.20011	0.805000	0.45488	0.232000	0.17891	0.890000	0.36211	0.650000	0.86243	GCC		0.522	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		13	14	0	0	0	1	0	13	14				
RASEF	158158	broad.mit.edu	37	9	85640744	85640744	+	Missense_Mutation	SNP	C	C	T	rs139684719	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:85640744C>T	ENST00000376447.3	-	2	784	c.524G>A	c.(523-525)cGt>cAt	p.R175H		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	175					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTGATCTCACGGATGAAGTT	0.403																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(523-525)cGt>cAt		RAS and EF-hand domain containing		C	HIS/ARG	7,4399	12.9+/-30.5	0,7,2196	203.0	180.0	188.0		524	4.2	0.3	9	dbSNP_134	188	0,8600		0,0,4300	yes	missense	RASEF	NM_152573.2	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	175/741	85640744	7,12999	2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85640744C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.524G>A	9.37:g.85640744C>T	ENSP00000365630:p.Arg175His						p.R175H	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			2	784	-			175					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.524G>A	CCDS6662.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.67	3.673482	0.67928	0.001589	0.0	ENSG00000165105	ENST00000376447	T	0.61158	0.13	5.99	4.17	0.49024	.	0.121669	0.56097	N	0.000024	T	0.53562	0.1804	L	0.50333	1.59	0.80722	D	1	D	0.56746	0.977	P	0.44597	0.454	T	0.56902	-0.7902	10	0.66056	D	0.02	.	11.6867	0.51490	0.0:0.8055:0.0:0.1945	.	175	Q8IZ41	RASEF_HUMAN	H	175	ENSP00000365630:R175H	ENSP00000365630:R175H	R	-	2	0	RASEF	84830564	0.706000	0.27856	0.294000	0.24946	0.945000	0.59286	1.268000	0.33062	0.885000	0.36088	0.655000	0.94253	CGT		0.403	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		43	70	0	0	0	1	0	43	70				
CNTNAP5	129684	broad.mit.edu	37	2	125521700	125521700	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:125521700G>A	ENST00000431078.1	+	16	2870	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	836	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCATTAAAGACTTCATTCG	0.373																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2506-2508)Gac>Aac		contactin associated protein-like 5							117.0	111.0	113.0					2																	125521700		1831	4074	5905	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521700G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2506G>A	2.37:g.125521700G>A	ENSP00000399013:p.Asp836Asn						p.D836N	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2870	+			836			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2506G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218089	0.95104	.	.	ENSG00000155052	ENST00000431078	D	0.83673	-1.75	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.250114	0.27113	N	0.020876	D	0.88066	0.6337	M	0.92970	3.365	0.80722	D	1	B	0.18968	0.032	B	0.19391	0.025	D	0.85273	0.1057	10	0.44086	T	0.13	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	836	Q8WYK1	CNTP5_HUMAN	N	836	ENSP00000399013:D836N	ENSP00000399013:D836N	D	+	1	0	CNTNAP5	125238170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.724000	0.93272	0.655000	0.94253	GAC		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			26	40	0	0	0	1	0	26	40				
NUP214	8021	broad.mit.edu	37	9	134004684	134004684	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134004684C>A	ENST00000359428.5	+	4	556	c.412C>A	c.(412-414)Cca>Aca	p.P138T	NUP214_ENST00000411637.2_Missense_Mutation_p.P138T|NUP214_ENST00000451030.1_Missense_Mutation_p.P138T|RNU6-881P_ENST00000516813.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	138	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCAAAAACGCCCATTTGCCTA	0.373			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(412-414)Cca>Aca		nucleoporin 214kDa							119.0	100.0	107.0					9																	134004684		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004684C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.412C>A	9.37:g.134004684C>A	ENSP00000352400:p.Pro138Thr					NUP214_ENST00000451030.1_Missense_Mutation_p.P138T|NUP214_ENST00000411637.2_Missense_Mutation_p.P138T	p.P138T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	4	556	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	138					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.412C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670295	0.67814	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000531584	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38058	N	0.001840	D	0.94532	0.8239	L	0.55481	1.735	0.49389	D	0.999788	D;D	0.71674	0.998;0.998	D;D	0.68039	0.955;0.955	D	0.92378	0.5911	10	0.27082	T	0.32	-16.7092	11.4985	0.50424	0.139:0.7268:0.1342:0.0	.	138;138	P35658-4;P35658	.;NU214_HUMAN	T	138;138;138;138;48	ENSP00000352400:P138T;ENSP00000396576:P138T;ENSP00000405014:P138T;ENSP00000435874:P48T	ENSP00000352400:P138T	P	+	1	0	NUP214	132994505	0.997000	0.39634	0.993000	0.49108	0.675000	0.39556	3.881000	0.56152	2.680000	0.91292	0.655000	0.94253	CCA		0.373	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	34	1	0	1.12685e-05	1	1.16601e-05	8	34				
TUBB1	81027	broad.mit.edu	37	20	57597952	57597952	+	Missense_Mutation	SNP	G	G	A	rs375670709		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:57597952G>A	ENST00000217133.1	+	2	379	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGAGCGACCGCGGGGCCTCG	0.597																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(109-111)cGc>cAc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	58.0	59.0		110	-3.2	0.0	20		59	0,8600		0,0,4300	no	missense	TUBB1	NM_030773.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	37/452	57597952	1,13005	2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57597952G>A	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.110G>A	20.37:g.57597952G>A	ENSP00000217133:p.Arg37His						p.R37H	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		2	379	+	all_lung(29;0.00711)		37						Missense_Mutation	SNP	ENST00000217133.1	37	c.110G>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.894261	0.00522	2.27E-4	0.0	ENSG00000101162	ENST00000217133	T	0.68025	-0.3	4.36	-3.17	0.05202	Tubulin/FtsZ, GTPase domain (3);	1.322820	0.04588	N	0.396251	T	0.35537	0.0935	N	0.01284	-0.91	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31696	-0.9934	10	0.87932	D	0	.	5.8714	0.18805	0.5289:0.0:0.3404:0.1307	.	37	Q9H4B7	TBB1_HUMAN	H	37	ENSP00000217133:R37H	ENSP00000217133:R37H	R	+	2	0	TUBB1	57031347	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.225000	0.09151	-0.482000	0.06782	-0.145000	0.13849	CGC		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		9	17	0	0	0	1	0	9	17				
C11orf24	53838	broad.mit.edu	37	11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000530166.1_5'Flank|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1183-1185)gCc>gTc		chromosome 11 open reading frame 24							101.0	92.0	95.0					11																	68029279		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029279G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1184C>T	11.37:g.68029279G>A	ENSP00000307264:p.Ala395Val					C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1586	-			395					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.1184C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486281	0.63962	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.89	1.63	0.23807	.	0.571965	0.13605	N	0.375588	T	0.19886	0.0478	L	0.43152	1.355	0.09310	N	0.999994	P	0.39311	0.667	B	0.32928	0.155	T	0.09975	-1.0650	10	0.36615	T	0.2	-3.8734	5.7176	0.17968	0.1947:0.0:0.5903:0.2151	.	395	Q96F05	CK024_HUMAN	V	395	ENSP00000307264:A395V	ENSP00000307264:A395V	A	-	2	0	C11orf24	67785855	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	1.693000	0.37742	0.475000	0.27415	0.484000	0.47621	GCC		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	26	0	0	0	1	0	16	26				
FBXO18	84893	broad.mit.edu	37	10	5960417	5960417	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:5960417C>T	ENST00000362091.4	+	13	2191	c.2076C>T	c.(2074-2076)caC>caT	p.H692H	FBXO18_ENST00000379999.5_Silent_p.H743H|FBXO18_ENST00000397269.3_Silent_p.H179H	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	692					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGTGCCCCACACCCACGTCT	0.557																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2227-2229)caC>caT		F-box protein, helicase, 18							141.0	120.0	127.0					10																	5960417		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5960417C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2076C>T	10.37:g.5960417C>T						FBXO18_ENST00000362091.4_Silent_p.H692H|FBXO18_ENST00000397269.3_Silent_p.H179H|FBXO18_ENST00000379994.1_Intron	p.H743H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			14	2333	+			692					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.2229C>T	CCDS7072.1																																																																																				0.557	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		47	50	0	0	0	1	0	47	50				
HS3ST1	9957	broad.mit.edu	37	4	11401264	11401264	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:11401264C>T	ENST00000002596.5	-	2	1540	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ACGTGAAATACGCGGGGGTCT	0.612																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(364-366)gcG>gcA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							68.0	68.0	68.0					4																	11401264		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401264C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.366G>A	4.37:g.11401264C>T							p.A122A	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1540	-			122					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.366G>A	CCDS3408.1																																																																																				0.612	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		24	34	0	0	0	1	0	24	34				
HIST1H3E	8353	broad.mit.edu	37	6	26225632	26225632	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:26225632C>T	ENST00000360408.1	+	1	250	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	84					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GACCGACCTGCGCTTCCAGAG	0.587																																						ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(250-252)Cgc>Tgc		histone cluster 1, H3e							76.0	74.0	74.0					6																	26225632		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225632C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.250C>T	6.37:g.26225632C>T	ENSP00000353581:p.Arg84Cys						p.R84C	NM_003532.2	NP_003523.1	P68431	H31_HUMAN			1	250	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	84					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.250C>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.796240	0.31777	.	.	ENSG00000196966	ENST00000360408	T	0.75821	-0.97	4.54	3.66	0.41972	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	T	0.80044	-0.1547	6	0.62326	D	0.03	.	14.137	0.65293	0.0:0.8489:0.1511:0.0	.	.	.	.	C	84	ENSP00000353581:R84C	ENSP00000353581:R84C	R	+	1	0	HIST1H3E	26333611	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.535000	0.82014	1.274000	0.44362	0.491000	0.48974	CGC		0.587	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		18	35	0	0	0	1	0	18	35				
TOR1AIP2	163590	broad.mit.edu	37	1	179820144	179820144	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179820144G>A	ENST00000367612.3	-	4	776	c.389C>T	c.(388-390)gCa>gTa	p.A130V	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.A130V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCCTAAGTGTGCATCTGCTCT	0.547																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(388-390)gCa>gTa		torsin A interacting protein 2							93.0	87.0	89.0					1																	179820144		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820144G>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.389C>T	1.37:g.179820144G>A	ENSP00000356584:p.Ala130Val						p.A130V	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	776	-			130					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.389C>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538868	0.45176	.	.	ENSG00000169905	ENST00000367612	T	0.26518	1.73	5.76	-1.13	0.09775	.	0.767521	0.10639	N	0.651268	T	0.21509	0.0518	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.38156	-0.9674	10	0.59425	D	0.04	-0.3742	1.8288	0.03126	0.1525:0.1292:0.321:0.3973	.	130	Q8NFQ8	TOIP2_HUMAN	V	130	ENSP00000356584:A130V	ENSP00000356584:A130V	A	-	2	0	TOR1AIP2	178086767	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.446000	0.06837	-0.157000	0.11059	-0.878000	0.02970	GCA		0.547	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		19	32	0	0	0	1	0	19	32				
ACTR1A	10121	broad.mit.edu	37	10	104242791	104242791	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:104242791G>T	ENST00000369905.4	-	7	790	c.727C>A	c.(727-729)Ctg>Atg	p.L243M	ACTR1A_ENST00000545684.1_Missense_Mutation_p.L169M|ACTR1A_ENST00000487599.1_Missense_Mutation_p.L243M|ACTR1A_ENST00000446605.2_Missense_Mutation_p.L196M|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCATCAGGCAGGTAGTACTGA	0.532																																						ENST00000369905.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13						c.(727-729)Ctg>Atg		ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)							259.0	228.0	239.0					10																	104242791		2203	4300	6503	SO:0001583	missense	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104242791G>T	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.727C>A	10.37:g.104242791G>T	ENSP00000358921:p.Leu243Met					ACTR1A_ENST00000446605.2_Missense_Mutation_p.L196M|ACTR1A_ENST00000545684.1_Missense_Mutation_p.L169M|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.L243M	p.L243M	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	7	790	-		Colorectal(252;0.122)	243					B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	c.727C>A	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333370	0.81801	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.97303	-4.33;-4.33;-4.33	5.85	4.95	0.65309	.	0.000000	0.56097	D	0.000035	D	0.98185	0.9400	M	0.82923	2.615	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	D	0.98745	1.0718	10	0.87932	D	0	.	10.9419	0.47278	0.1423:0.0:0.8577:0.0	.	243	P61163	ACTZ_HUMAN	M	243;169;196	ENSP00000358921:L243M;ENSP00000438890:L169M;ENSP00000406028:L196M	ENSP00000358921:L243M	L	-	1	2	ACTR1A	104232781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.488000	0.66869	1.470000	0.48102	0.561000	0.74099	CTG		0.532	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			41	72	1	0	7.77372e-23	1	8.65221e-23	41	72				
HRH2	3274	broad.mit.edu	37	5	175111083	175111083	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:175111083C>A	ENST00000231683.2	+	1	2620	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	HRH2_ENST00000377291.2_Missense_Mutation_p.L283M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	283					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.L283M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CAACTCAGCCCTGAACCCCAT	0.562																																						ENST00000231683.2																			1	Substitution - Missense(1)	p.L283M(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(847-849)Ctg>Atg		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						122.0	95.0	104.0					5																	175111083		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111083C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.847C>A	5.37:g.175111083C>A	ENSP00000231683:p.Leu283Met					HRH2_ENST00000377291.2_Missense_Mutation_p.L283M	p.L283M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2620	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	283					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.847C>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535020	0.64972	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.49432	0.78;0.78	5.06	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.58380	0.2118	M	0.64170	1.965	0.49483	D	0.999796	P;D	0.65815	0.933;0.995	P;D	0.70227	0.897;0.968	T	0.52313	-0.8592	10	0.31617	T	0.26	.	9.2017	0.37263	0.0:0.6981:0.0:0.3019	.	283;283	P25021;Q7Z5R9	HRH2_HUMAN;.	M	283	ENSP00000366506:L283M;ENSP00000231683:L283M	ENSP00000231683:L283M	L	+	1	2	HRH2	175043689	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	2.106000	0.41835	0.188000	0.20168	0.555000	0.69702	CTG		0.562	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			14	30	1	0	8.60227e-14	1	9.36079e-14	14	30				
CAPN11	11131	broad.mit.edu	37	6	44148387	44148387	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:44148387A>G	ENST00000398776.1	+	16	1772	c.1734A>G	c.(1732-1734)atA>atG	p.I578M	CAPN11_ENST00000542245.1_Missense_Mutation_p.I578M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	578	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTTTAAGATAGTGGCAGGAG	0.592																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1732-1734)atA>atG		calpain 11							37.0	41.0	40.0					6																	44148387		1895	4116	6011	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148387A>G	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1734A>G	6.37:g.44148387A>G	ENSP00000381758:p.Ile578Met					CAPN11_ENST00000542245.1_Missense_Mutation_p.I578M	p.I578M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	1772	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		578			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1734A>G	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	a	15.37	2.813841	0.50527	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.29917	1.55;1.55	4.27	-5.43	0.02632	EF-hand-like domain (1);	1.615650	0.03598	N	0.232917	T	0.07052	0.0179	L	0.35414	1.06	0.09310	N	1	P;P	0.42337	0.65;0.776	B;B	0.32393	0.145;0.145	T	0.29366	-1.0014	10	0.87932	D	0	.	7.9726	0.30136	0.1958:0.4025:0.4017:0.0	.	232;578	B4DT90;Q9UMQ6	.;CAN11_HUMAN	M	578	ENSP00000381758:I578M;ENSP00000441078:I578M	ENSP00000381758:I578M	I	+	3	3	CAPN11	44256365	0.001000	0.12720	0.001000	0.08648	0.851000	0.48451	0.122000	0.15687	-1.138000	0.02884	0.404000	0.27445	ATA		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			17	23	0	0	0	1	0	17	23				
HERC4	26091	broad.mit.edu	37	10	69750903	69750903	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:69750903G>A	ENST00000395198.3	-	12	1572	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V	HERC4_ENST00000412272.2_Missense_Mutation_p.A442V|HERC4_ENST00000277817.6_Missense_Mutation_p.A332V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.A442V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	442					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTACCTAACAGCTAAAAAACT	0.219																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(1324-1326)gCt>gTt		HECT and RLD domain containing E3 ubiquitin protein ligase 4							26.0	26.0	26.0					10																	69750903		2196	4275	6471	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69750903G>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1325C>T	10.37:g.69750903G>A	ENSP00000378624:p.Ala442Val					HERC4_ENST00000412272.2_Missense_Mutation_p.A442V|HERC4_ENST00000277817.6_Missense_Mutation_p.A332V|HERC4_ENST00000373700.4_Missense_Mutation_p.A442V|HERC4_ENST00000395187.2_3'UTR	p.A442V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			12	1572	-			442					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.1325C>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800982	0.50315	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.46819	1.11;0.86;0.86;0.86	5.53	5.53	0.82687	.	0.169117	0.52532	D	0.000066	T	0.25754	0.0627	N	0.02802	-0.49	0.80722	D	1	B;B;B;B;B	0.24721	0.11;0.0;0.002;0.002;0.002	B;B;B;B;B	0.20184	0.028;0.002;0.008;0.008;0.003	T	0.11397	-1.0589	10	0.30078	T	0.28	.	15.8122	0.78573	0.0:0.0:0.8636:0.1364	.	442;442;292;442;442	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	V	332;442;442;442	ENSP00000277817:A332V;ENSP00000416504:A442V;ENSP00000378624:A442V;ENSP00000362804:A442V	ENSP00000277817:A332V	A	-	2	0	HERC4	69420909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.612000	0.67681	2.592000	0.87571	0.655000	0.94253	GCT		0.219	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		3	48	0	0	0	1	0	3	48				
C2CD2	25966	broad.mit.edu	37	21	43327200	43327200	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:43327200C>T	ENST00000380486.3	-	10	1460	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	C2CD2_ENST00000329623.7_Missense_Mutation_p.D252N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	407						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCGTGCGGTCCTTTTCTATT	0.562																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1219-1221)Gac>Aac		C2 calcium-dependent domain containing 2							74.0	71.0	72.0					21																	43327200		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43327200C>T	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1219G>A	21.37:g.43327200C>T	ENSP00000369853:p.Asp407Asn					C2CD2_ENST00000329623.7_Missense_Mutation_p.D252N	p.D407N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			10	1460	-			407					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1219G>A	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654996	0.88056	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.32515	1.47;1.45	4.9	4.9	0.64082	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62186	-0.6907	10	0.46703	T	0.11	-23.334	18.0791	0.89437	0.0:1.0:0.0:0.0	.	252;407	Q6P6D1;Q9Y426	.;CU025_HUMAN	N	252;407	ENSP00000329302:D252N;ENSP00000369853:D407N	ENSP00000329302:D252N	D	-	1	0	C2CD2	42200269	1.000000	0.71417	0.971000	0.41717	0.496000	0.33645	7.192000	0.77771	2.413000	0.81919	0.655000	0.94253	GAC		0.562	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		17	7	0	0	0	1	0	17	7				
CELSR3	1951	broad.mit.edu	37	3	48683650	48683650	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48683650C>T	ENST00000164024.4	-	22	7616	c.7336G>A	c.(7336-7338)Gtg>Atg	p.V2446M	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.V2451M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2446					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AACACAGCCACGCTGACCACC	0.602																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7351-7353)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 3							46.0	47.0	47.0					3																	48683650		2202	4297	6499	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48683650C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7336G>A	3.37:g.48683650C>T	ENSP00000164024:p.Val2446Met					CELSR3_ENST00000164024.4_Missense_Mutation_p.V2446M	p.V2451M			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	23	7631	-			2446					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7351G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.312479	0.81358	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.10573	2.86;2.86	5.73	5.73	0.89815	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.32376	0.0827	L	0.60455	1.87	0.45066	D	0.998089	D;D	0.89917	0.997;1.0	D;D	0.72982	0.947;0.979	T	0.00529	-1.1687	9	0.66056	D	0.02	.	19.9082	0.97015	0.0:1.0:0.0:0.0	.	2446;2516	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2446;2451	ENSP00000164024:V2446M;ENSP00000445694:V2451M	ENSP00000164024:V2446M	V	-	1	0	CELSR3	48658654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.562000	0.53777	2.713000	0.92767	0.651000	0.88453	GTG		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		8	13	0	0	0	1	0	8	13				
UBR3	130507	broad.mit.edu	37	2	170929970	170929970	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170929970C>T	ENST00000272793.5	+	36	5102	c.5052C>T	c.(5050-5052)tgC>tgT	p.C1684C	UBR3_ENST00000418381.1_Silent_p.C1684C|UBR3_ENST00000392631.1_Silent_p.C505C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1684					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTGCCAGCTGCCTGGGACTTC	0.383																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5050-5052)tgC>tgT		ubiquitin protein ligase E3 component n-recognin 3 (putative)							134.0	134.0	134.0					2																	170929970		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170929970C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5052C>T	2.37:g.170929970C>T						UBR3_ENST00000418381.1_Silent_p.C1684C|UBR3_ENST00000392631.1_Silent_p.C505C	p.C1684C			Q6ZT12	UBR3_HUMAN			36	5102	+			1684					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.5052C>T		.	.	.	.	.	.	.	.	.	.	C	8.933	0.963897	0.18583	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.4	3.61	0.41365	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53648	-0.8409	4	.	.	.	.	9.0722	0.36500	0.0:0.7122:0.0:0.2878	.	.	.	.	V	746	.	.	A	+	2	0	UBR3	170638216	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.568000	0.36418	0.759000	0.33084	-0.136000	0.14681	GCC		0.383	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		33	81	0	0	0	1	0	33	81				
VCAM1	7412	broad.mit.edu	37	1	101198116	101198116	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:101198116G>A	ENST00000294728.2	+	7	1769	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	VCAM1_ENST00000347652.2_Silent_p.Q464Q|VCAM1_ENST00000370119.4_Silent_p.Q494Q|VCAM1_ENST00000370115.1_Silent_p.Q357Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	556	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAGCTACAGCCTCTTTCTG	0.468																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1666-1668)caG>caA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						44.0	48.0	46.0					1																	101198116		2202	4300	6502	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198116G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1668G>A	1.37:g.101198116G>A						VCAM1_ENST00000347652.2_Silent_p.Q464Q|VCAM1_ENST00000370115.1_Silent_p.Q357Q|VCAM1_ENST00000370119.4_Silent_p.Q494Q	p.Q556Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1769	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	556			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1668G>A	CCDS773.1																																																																																				0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		10	43	0	0	0	1	0	10	43				
ZNF598	90850	broad.mit.edu	37	16	2050146	2050146	+	Silent	SNP	C	C	T	rs554344000		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:2050146C>T	ENST00000563630.1	-	9	1481	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A413A|ZNF598_ENST00000431526.1_Silent_p.A468A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	468							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTACGGCAGCGCCAACCCCA	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		16250	0.0		0.0	False		,,,				2504	0.001					ENST00000563630.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1237-1239)gcG>gcA		zinc finger protein 598							21.0	25.0	24.0					16																	2050146		1912	4022	5934	SO:0001819	synonymous_variant	90850					intracellular	zinc ion binding	g.chr16:2050146C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1239G>A	16.37:g.2050146C>T						ZNF598_ENST00000431526.1_Silent_p.A468A|ZNF598_ENST00000562103.1_Silent_p.A413A	p.A413A			Q86UK7	ZN598_HUMAN			9	1481	-			468					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37	c.1239G>A																																																																																					0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		16	25	0	0	0	1	0	16	25				
NCOA2	10499	broad.mit.edu	37	8	71053445	71053445	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:71053445G>A	ENST00000452400.2	-	14	3183	c.3002C>T	c.(3001-3003)aCg>aTg	p.T1001M	NCOA2_ENST00000267974.4_Missense_Mutation_p.T89M	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1001					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGACTGAAGCGTCTGTCTTTG	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3001-3003)aCg>aTg		nuclear receptor coactivator 2							53.0	57.0	55.0					8																	71053445		2011	4183	6194	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71053445G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3002C>T	8.37:g.71053445G>A	ENSP00000399968:p.Thr1001Met					NCOA2_ENST00000267974.4_Missense_Mutation_p.T89M	p.T1001M	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		14	3183	-	Breast(64;0.201)		1001					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3002C>T	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.446|4.446	0.082616|0.082616	0.08533|0.08533	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.05081	.|5.05;3.5	6.05|6.05	4.9|4.9	0.64082|0.64082	.|.	.|0.112581	.|0.85682	.|N	.|0.000000	T|T	0.01558|0.01558	0.0050|0.0050	N|N	0.00317|0.00317	-1.655|-1.655	0.27898|0.27898	N|N	0.939088|0.939088	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.40553|0.40553	-0.9557|-0.9557	5|10	.|0.02654	.|T	.|1	.|.	11.5168|11.5168	0.50526|0.50526	0.9292:0.0:0.0708:0.0|0.9292:0.0:0.0708:0.0	.|.	.|89;1001	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	C|M	102|1001;89	.|ENSP00000399968:T1001M;ENSP00000267974:T89M	.|ENSP00000267974:T89M	R|T	-|-	1|2	0|0	NCOA2|NCOA2	71215999|71215999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.606000|5.606000	0.67641|0.67641	1.121000|1.121000	0.41925|0.41925	-0.312000|-0.312000	0.09012|0.09012	CGC|ACG		0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			8	7	0	0	0	1	0	8	7				
ATP1A4	480	broad.mit.edu	37	1	160151799	160151799	+	Missense_Mutation	SNP	G	G	A	rs200603421		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:160151799G>A	ENST00000368081.4	+	20	3418	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A119T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	983					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGGACGTGGCCCTGCGAAT	0.517																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2947-2949)Gcc>Acc		ATPase, Na+/K+ transporting, alpha 4 polypeptide		G	THR/ALA,THR/ALA	0,4406		0,0,2203	105.0	100.0	102.0		355,2947	2.3	0.6	1		102	1,8599		0,1,4299	yes	missense,missense	ATP1A4	NM_001001734.1,NM_144699.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	119/166,983/1030	160151799	1,13005	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160151799G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2947G>A	1.37:g.160151799G>A	ENSP00000357060:p.Ala983Thr					ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.A119T	p.A983T	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3418	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		983					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2947G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175610	0.78564	0.0	1.16E-4	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.95980	-3.87;-3.87	4.26	2.35	0.29111	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.060305	0.64402	D	0.000005	D	0.92535	0.7629	L	0.55834	1.745	0.36975	D	0.894011	P	0.43287	0.802	P	0.51193	0.662	D	0.91181	0.4976	10	0.87932	D	0	.	7.1206	0.25442	0.0938:0.0:0.7367:0.1695	.	983	Q13733	AT1A4_HUMAN	T	983;119	ENSP00000357060:A983T;ENSP00000433094:A119T	ENSP00000357060:A983T	A	+	1	0	ATP1A4	158418423	1.000000	0.71417	0.561000	0.28357	0.969000	0.65631	7.683000	0.84093	0.537000	0.28751	0.455000	0.32223	GCC		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		58	65	0	0	0	1	0	58	65				
AP1M1	8907	broad.mit.edu	37	19	16338437	16338437	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16338437G>A	ENST00000291439.3	+	7	1201	c.752G>A	c.(751-753)cGc>cAc	p.R251H	AP1M1_ENST00000541844.1_Missense_Mutation_p.R179H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R179H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R251H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R263H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	251	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAGAATGACCGCACCATCTCC	0.612																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(751-753)cGc>cAc		adaptor-related protein complex 1, mu 1 subunit							280.0	229.0	246.0					19																	16338437		2203	4300	6503	SO:0001583	missense	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16338437G>A		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.752G>A	19.37:g.16338437G>A	ENSP00000291439:p.Arg251His					AP1M1_ENST00000590756.1_Missense_Mutation_p.R179H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R263H|AP1M1_ENST00000541844.1_Missense_Mutation_p.R179H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R251H	p.R251H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			7	1201	+			251			MHD.		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.752G>A	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176372	0.94846	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.26	4.26	0.50523	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.86097	2.795	0.80722	D	1	P;P;P	0.45569	0.861;0.696;0.696	P;B;B	0.44696	0.458;0.344;0.344	T	0.53975	-0.8362	10	0.59425	D	0.04	-33.0111	15.848	0.78905	0.0:0.0:1.0:0.0	.	251;263;251	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	263;251;179;251	ENSP00000388996:R263H;ENSP00000291439:R251H;ENSP00000445682:R179H;ENSP00000411498:R251H	ENSP00000291439:R251H	R	+	2	0	AP1M1	16199437	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.356000	0.97091	2.208000	0.71279	0.561000	0.74099	CGC		0.612	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		56	65	0	0	0	1	0	56	65				
FOXB1	27023	broad.mit.edu	37	15	60297912	60297912	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:60297912C>T	ENST00000396057.4	+	2	1229	c.750C>T	c.(748-750)caC>caT	p.H250H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	250					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CGCTGTGCCACGCGGCGGGCC	0.716																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(748-750)caC>caT		forkhead box B1							10.0	12.0	11.0					15																	60297912		2148	4192	6340	SO:0001819	synonymous_variant	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60297912C>T	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.750C>T	15.37:g.60297912C>T						FOXB1_ENST00000560857.1_Intron	p.H250H	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	1229	+			250					O60652|O75917|Q14CL2	Silent	SNP	ENST00000396057.4	37	c.750C>T	CCDS32255.1																																																																																				0.716	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			3	17	0	0	0	1	0	3	17				
KIAA1958	158405	broad.mit.edu	37	9	115336493	115336493	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115336493A>G	ENST00000337530.6	+	2	429	c.133A>G	c.(133-135)Aca>Gca	p.T45A	KIAA1958_ENST00000374244.3_Missense_Mutation_p.T45A|KIAA1958_ENST00000536272.1_Missense_Mutation_p.T45A	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	45										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGGGAACCTGACAGCAATGTG	0.517																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(133-135)Aca>Gca		KIAA1958							60.0	57.0	58.0					9																	115336493		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336493A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.133A>G	9.37:g.115336493A>G	ENSP00000336940:p.Thr45Ala					KIAA1958_ENST00000536272.1_Missense_Mutation_p.T45A|KIAA1958_ENST00000374244.3_Missense_Mutation_p.T45A	p.T45A	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	429	+			45					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.133A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241135	0.58995	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.22421	0.69	0.43394	D	0.995515	D;D	0.64830	0.994;0.976	D;D	0.70716	0.97;0.931	T	0.64837	-0.6313	9	0.41790	T	0.15	-13.8999	16.6127	0.84892	1.0:0.0:0.0:0.0	.	45;45	B7ZKW6;Q8N8K9	.;K1958_HUMAN	A	45	.	ENSP00000336940:T45A	T	+	1	0	KIAA1958	114376314	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.076000	0.71267	2.322000	0.78497	0.528000	0.53228	ACA		0.517	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		20	26	0	0	0	1	0	20	26				
FLNB	2317	broad.mit.edu	37	3	58121794	58121794	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:58121794G>A	ENST00000295956.4	+	28	4925	c.4760G>A	c.(4759-4761)cGc>cAc	p.R1587H	FLNB_ENST00000429972.2_Missense_Mutation_p.R1587H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1418H|FLNB_ENST00000358537.3_Missense_Mutation_p.R1587H|FLNB_ENST00000357272.4_Missense_Mutation_p.R1587H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1587H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1418H|FLNB_ENST00000490882.1_Missense_Mutation_p.R1618H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1587					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGACTGGGCGCTATATGATT	0.527																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(4759-4761)cGc>cAc		filamin B, beta							88.0	77.0	81.0					3																	58121794		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58121794G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4760G>A	3.37:g.58121794G>A	ENSP00000295956:p.Arg1587His					FLNB_ENST00000490882.1_Missense_Mutation_p.R1618H|FLNB_ENST00000295956.4_Missense_Mutation_p.R1587H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1418H|FLNB_ENST00000358537.3_Missense_Mutation_p.R1587H|FLNB_ENST00000429972.2_Missense_Mutation_p.R1587H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1418H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1587H	p.R1587H			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	28	4925	+			1587					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4760G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523408	0.96431	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.99	5.99	0.97316	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.998;0.977;0.999;0.999	D	0.93255	0.6638	10	0.72032	D	0.01	.	20.4635	0.99160	0.0:0.0:1.0:0.0	.	1587;1618;1418;1418;1587;1587	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	H	1587;1618;1587;1587;1587;1587;1418;1418	ENSP00000295956:R1587H;ENSP00000420213:R1618H;ENSP00000351339:R1587H;ENSP00000415599:R1587H;ENSP00000232447:R1587H;ENSP00000349819:R1587H;ENSP00000418510:R1418H;ENSP00000414532:R1418H	ENSP00000295956:R1587H	R	+	2	0	FLNB	58096834	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	9.861000	0.99562	2.831000	0.97527	0.650000	0.86243	CGC		0.527	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		15	10	0	0	0	1	0	15	10				
TRBV7-4	28594	broad.mit.edu	37	7	142176377	142176377	+	RNA	SNP	C	C	T	rs551791108		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:142176377C>T	ENST00000390369.2	-	0	298									T cell receptor beta variable 7-4 (gene/pseudogene)																		CTGCTCTGTGCACTGGATCTT	0.567													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16188	0.0		0.0	False		,,,				2504	0.0					ENST00000390369.2																			0																				61.0	61.0	61.0					7																	142176377		1978	4158	6136			0							g.chr7:142176377C>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176377C>T														0	298	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.567	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		4	59	0	0	0	1	0	4	59				
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	G	A	rs370068963		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:31323938G>A	ENST00000269053.3	+	3	491	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.G72R|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(214-216)Ggg>Agg		sperm acrosome associated 3		G	ARG/GLY	0,4406		0,0,2203	109.0	98.0	102.0		421	4.7	1.0	17		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA3	NM_173847.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	141/216	31323938	1,13005	2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31323938G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.421G>A	17.37:g.31323938G>A	ENSP00000269053:p.Gly141Arg					SPACA3_ENST00000269053.3_Missense_Mutation_p.G141R|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38R	p.G72R			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	623	+			141					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.214G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437188	0.62955	0.0	1.16E-4	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	D;D	0.97232	-4.3;-4.3	4.71	4.71	0.59529	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.98950	0.9643	H	0.97611	4.04	0.40514	D	0.980764	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	-4.7698	13.022	0.58794	0.0:0.0:1.0:0.0	.	141	Q8IXA5	SACA3_HUMAN	R	141;38;142;49	ENSP00000269053:G141R;ENSP00000378134:G38R	ENSP00000269053:G141R	G	+	1	0	SPACA3	28348051	1.000000	0.71417	0.997000	0.53966	0.440000	0.31957	5.970000	0.70431	2.442000	0.82660	0.297000	0.19635	GGG		0.592	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		23	46	0	0	0	1	0	23	46				
WNT6	7475	broad.mit.edu	37	2	219736503	219736503	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219736503G>A	ENST00000233948.3	+	3	815	c.598G>A	c.(598-600)Gcg>Acg	p.A200T		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	200					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACATCCGCGCGTTGGTGCA	0.652																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(598-600)Gcg>Acg		wingless-type MMTV integration site family, member 6							27.0	29.0	28.0					2																	219736503		2202	4300	6502	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736503G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.598G>A	2.37:g.219736503G>A	ENSP00000233948:p.Ala200Thr						p.A200T	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	815	+		Renal(207;0.0474)	200					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.598G>A	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.984615	0.35036	.	.	ENSG00000115596	ENST00000233948	T	0.76578	-1.03	4.88	4.0	0.46444	.	0.394356	0.28203	N	0.016215	T	0.59945	0.2231	N	0.13043	0.29	0.19300	N	0.999977	B	0.16802	0.019	B	0.13407	0.009	T	0.40776	-0.9545	10	0.17369	T	0.5	.	12.2804	0.54760	0.0827:0.0:0.9173:0.0	.	200	Q9Y6F9	WNT6_HUMAN	T	200	ENSP00000233948:A200T	ENSP00000233948:A200T	A	+	1	0	WNT6	219444747	0.192000	0.23301	0.021000	0.16686	0.989000	0.77384	1.785000	0.38684	1.060000	0.40578	0.486000	0.48141	GCG		0.652	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		7	11	0	0	0	1	0	7	11				
PPP1R13B	23368	broad.mit.edu	37	14	104219354	104219354	+	Silent	SNP	G	G	A	rs374114918		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104219354G>A	ENST00000202556.9	-	7	1093	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	271	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTTGGTACAGTCTTTTTAAC	0.413																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(811-813)Ctg>Ttg		protein phosphatase 1, regulatory subunit 13B		G		0,3680		0,0,1840	91.0	84.0	86.0		811	2.8	1.0	14		86	1,8209		0,1,4104	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,5944	AA,AG,GG		0.0122,0.0,0.0084		271/1091	104219354	1,11889	1840	4105	5945	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104219354G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.811C>T	14.37:g.104219354G>A							p.L271L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			7	1093	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	271			Gln-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.811C>T	CCDS41997.1																																																																																				0.413	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		25	49	0	0	0	1	0	25	49				
ZNF592	9640	broad.mit.edu	37	15	85327309	85327309	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85327309G>C	ENST00000560079.2	+	4	1691	c.1403G>C	c.(1402-1404)cGg>cCg	p.R468P	ZNF592_ENST00000299927.3_Missense_Mutation_p.R468P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	468					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTGGGCCCCGGGTCCCAAAG	0.637																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1402-1404)cGg>cCg		zinc finger protein 592							37.0	39.0	38.0					15																	85327309		2203	4298	6501	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327309G>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1403G>C	15.37:g.85327309G>C	ENSP00000452877:p.Arg468Pro					ZNF592_ENST00000560079.2_Missense_Mutation_p.R468P	p.R468P			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1425	+			468					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1403G>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	4.444	0.082268	0.08533	.	.	ENSG00000166716	ENST00000299927	T	0.00612	6.22	5.21	0.837	0.18896	.	0.764989	0.12670	N	0.448856	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	P	0.39831	0.69	B	0.38880	0.284	T	0.51748	-0.8666	10	0.23302	T	0.38	-4.7745	6.2581	0.20885	0.2332:0.2497:0.5172:0.0	.	468	Q92610	ZN592_HUMAN	P	468	ENSP00000299927:R468P	ENSP00000299927:R468P	R	+	2	0	ZNF592	83128313	0.000000	0.05858	0.027000	0.17364	0.802000	0.45316	0.322000	0.19576	0.035000	0.15519	-0.797000	0.03246	CGG		0.637	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		12	14	0	0	0	1	0	12	14				
HTR1D	3352	broad.mit.edu	37	1	23520001	23520001	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:23520001G>A	ENST00000374619.1	-	1	1221	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	HTR1D_ENST00000314113.3_Missense_Mutation_p.R238C	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	238					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGTGAAGCGCTTCCCATAG	0.627																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(712-714)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						45.0	49.0	48.0					1																	23520001		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520001G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.712C>T	1.37:g.23520001G>A	ENSP00000363748:p.Arg238Cys					HTR1D_ENST00000314113.3_Missense_Mutation_p.R238C	p.R238C	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1221	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	238						Missense_Mutation	SNP	ENST00000374619.1	37	c.712C>T	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371912	0.61624	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.46451	0.87;0.87	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.055349	0.85682	D	0.000000	T	0.62527	0.2435	M	0.72479	2.2	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.65676	-0.6110	10	0.87932	D	0	.	13.0757	0.59085	0.0:0.0:0.8396:0.1604	.	238	P28221	5HT1D_HUMAN	C	238	ENSP00000313661:R238C;ENSP00000363748:R238C	ENSP00000313661:R238C	R	-	1	0	HTR1D	23392588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.522000	0.85027	0.655000	0.94253	CGC		0.627	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		6	23	0	0	0	1	0	6	23				
NIPBL	25836	broad.mit.edu	37	5	36976503	36976503	+	Splice_Site	SNP	A	A	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:36976503A>C	ENST00000282516.8	+	9	1993	c.1494A>C	c.(1492-1494)aaA>aaC	p.K498N	NIPBL_ENST00000448238.2_Splice_Site_p.K498N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	498					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCAAGATAAAGGTAAAATAA	0.318																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e9+1		Nipped-B homolog (Drosophila)							40.0	42.0	42.0					5																	36976503		2198	4297	6495	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976503A>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1495+1A>C	5.37:g.36976503A>C						NIPBL_ENST00000448238.2_Splice_Site_p.K498_splice|NIPBL_ENST00000504430.1_3'UTR	p.K498_splice	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1993	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		498					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	c.1495_splice	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130458	0.77549	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97575	-4.41;-4.44	5.84	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	L	0.32530	0.975	0.50632	D	0.999883	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.96092	0.9062	10	0.45353	T	0.12	.	12.1656	0.54127	0.9323:0.0:0.0677:0.0	.	498;498	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	498	ENSP00000282516:K498N;ENSP00000406266:K498N	ENSP00000282516:K498N	K	+	3	2	NIPBL	37012260	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.123000	0.77176	0.995000	0.38917	0.377000	0.23210	AAA		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Missense_Mutation	15	16	0	0	0	1	0	15	16				
GTF2H4	2968	broad.mit.edu	37	6	30879819	30879819	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30879819G>A	ENST00000259895.4	+	10	1077	c.854G>A	c.(853-855)cGc>cAc	p.R285H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.R285H|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000539324.1_3'UTR	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	285					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TACCCCACACGCCTGGCCATC	0.498								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(853-855)cGc>cAc	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							68.0	73.0	72.0					6																	30879819		1510	2708	4218	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30879819G>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.854G>A	6.37:g.30879819G>A	ENSP00000259895:p.Arg285His					GTF2H4_ENST00000376316.2_Missense_Mutation_p.R285H|GTF2H4_ENST00000539324.1_3'UTR	p.R285H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			10	1077	+			285					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.854G>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846567	0.71603	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.54675	0.56;0.56	5.42	5.42	0.78866	.	0.000000	0.64402	U	0.000001	T	0.65386	0.2686	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.972	T	0.64071	-0.6493	10	0.40728	T	0.16	-18.9343	16.7226	0.85414	0.0:0.0:1.0:0.0	.	291;285	B4DNU0;Q92759	.;TF2H4_HUMAN	H	285	ENSP00000259895:R285H;ENSP00000365493:R285H	ENSP00000259895:R285H	R	+	2	0	GTF2H4	30987798	1.000000	0.71417	0.962000	0.40283	0.913000	0.54294	6.848000	0.75409	2.535000	0.85469	0.655000	0.94253	CGC		0.498	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		17	51	0	0	0	1	0	17	51				
CASP8AP2	9994	broad.mit.edu	37	6	90575884	90575884	+	RNA	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:90575884G>T	ENST00000551025.1	+	0	4312									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAAACGTAGAGTGTCAGCTGA	0.358																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							42.0	41.0	41.0					6																	90575884		1876	4107	5983			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90575884G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90575884G>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	4312	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		3	20	1	0	0.004672	1	0.00472505	3	20				
SPECC1L	23384	broad.mit.edu	37	22	24718719	24718719	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:24718719G>A	ENST00000314328.9	+	5	2056	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A591T|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A591T|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A591T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	591					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGAAAGTGGCAGAGCTGTA	0.478																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1771-1773)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							74.0	76.0	76.0					22																	24718719		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24718719G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1771G>A	22.37:g.24718719G>A	ENSP00000325785:p.Ala591Thr					KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.A591T|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A591T|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A591T	p.A591T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	2056	+			591					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.1771G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692372	0.68271	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.61274	0.12;2.61;0.12;3.12	5.71	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.65498	2.005	0.80722	D	1	P;D	0.63880	0.909;0.993	P;D	0.74674	0.555;0.984	T	0.69079	-0.5240	10	0.24483	T	0.36	-22.0425	14.0124	0.64505	0.0726:0.0:0.9274:0.0	.	591;591	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	619;591;591;591;591	ENSP00000393363:A591T;ENSP00000405671:A591T;ENSP00000325785:A591T;ENSP00000439633:A591T	ENSP00000325785:A591T	A	+	1	0	SPECC1L	23048719	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	4.764000	0.62264	1.432000	0.47375	-0.137000	0.14449	GCA		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		25	40	0	0	0	1	0	25	40				
PLXNB1	5364	broad.mit.edu	37	3	48461154	48461154	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48461154G>A	ENST00000358536.4	-	11	2810	c.2541C>T	c.(2539-2541)ggC>ggT	p.G847G	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Silent_p.G847G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	847					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGCAGCTCGCCGCCTTCTC	0.682																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2539-2541)ggC>ggT		plexin B1							10.0	11.0	11.0					3																	48461154		2191	4282	6473	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48461154G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2541C>T	3.37:g.48461154G>A						PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000296440.6_Silent_p.G847G|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Intron	p.G847G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	2810	-			847					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.2541C>T	CCDS2765.1																																																																																				0.682	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		4	11	0	0	0	1	0	4	11				
SPATS2L	26010	broad.mit.edu	37	2	201305436	201305436	+	Silent	SNP	C	C	T	rs372942551		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201305436C>T	ENST00000358677.5	+	8	964	c.717C>T	c.(715-717)cgC>cgT	p.R239R	SPATS2L_ENST00000451764.2_Silent_p.R239R|SPATS2L_ENST00000409385.1_Silent_p.R179R|SPATS2L_ENST00000360760.5_Silent_p.R170R|SPATS2L_ENST00000409140.3_Silent_p.R239R|SPATS2L_ENST00000409988.3_Silent_p.R239R|SPATS2L_ENST00000409755.3_Silent_p.R269R|SPATS2L_ENST00000409151.1_Silent_p.R247R|SPATS2L_ENST00000409718.1_Silent_p.R239R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	239						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CTAGATATCGCGTCATGATTA	0.378																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(715-717)cgC>cgT		spermatogenesis associated, serine-rich 2-like		C	,,,	1,3833		0,1,1916	96.0	92.0	93.0		717,717,510,717	-12.1	0.3	2		93	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPATS2L	NM_001100422.1,NM_001100423.1,NM_001100424.1,NM_015535.2	,,,	0,2,6042	TT,TC,CC		0.0121,0.0261,0.0165	,,,	239/559,239/559,170/490,239/559	201305436	2,12086	1917	4127	6044	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201305436C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.717C>T	2.37:g.201305436C>T						SPATS2L_ENST00000451764.2_Silent_p.R239R|SPATS2L_ENST00000409151.1_Silent_p.R247R|SPATS2L_ENST00000360760.5_Silent_p.R170R|SPATS2L_ENST00000358677.4_Silent_p.R239R|SPATS2L_ENST00000409140.3_Silent_p.R239R|SPATS2L_ENST00000409385.1_Silent_p.R179R|SPATS2L_ENST00000409755.3_Silent_p.R269R|SPATS2L_ENST00000409718.1_Silent_p.R239R	p.R239R	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			8	1240	+			239					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.717C>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321134	0.23994	2.61E-4	1.21E-4	ENSG00000196141	ENST00000366118	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.54935	0.1889	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67292	-0.5707	4	.	.	.	-11.7757	13.1102	0.59268	0.2199:0.5836:0.0:0.1965	.	.	.	.	V	22	.	.	A	+	2	0	SPATS2L	201013681	0.000000	0.05858	0.329000	0.25429	0.993000	0.82548	-4.308000	0.00255	-1.527000	0.01758	0.655000	0.94253	GCG		0.378	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		14	18	0	0	0	1	0	14	18				
PDE8A	5151	broad.mit.edu	37	15	85681108	85681108	+	Missense_Mutation	SNP	C	C	T	rs552082599	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:85681108C>T	ENST00000310298.4	+	23	2716	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	PDE8A_ENST00000557957.1_Missense_Mutation_p.R750W|PDE8A_ENST00000339708.5_Missense_Mutation_p.R776W|PDE8A_ENST00000394553.1_Missense_Mutation_p.R822W			O60658	PDE8A_HUMAN	phosphodiesterase 8A	822					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	AATGAAGCTGCGGAACCTCCG	0.493													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20346	0.0		0.0	False		,,,				2504	0.0					ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2464-2466)Cgg>Tgg		phosphodiesterase 8A							96.0	80.0	85.0					15																	85681108		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85681108C>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2464C>T	15.37:g.85681108C>T	ENSP00000311453:p.Arg822Trp					PDE8A_ENST00000339708.5_Missense_Mutation_p.R776W|PDE8A_ENST00000557957.1_Missense_Mutation_p.R750W|PDE8A_ENST00000394553.1_Missense_Mutation_p.R822W	p.R822W			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		23	2716	+	Colorectal(223;0.227)		822					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2464C>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307731	0.40795	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.72615	-0.67;-0.67;-0.54	5.36	3.45	0.39498	.	0.737275	0.13279	N	0.399888	T	0.67477	0.2897	L	0.29908	0.895	0.36803	D	0.885459	D;D	0.63046	0.992;0.992	P;B	0.54815	0.761;0.38	T	0.69105	-0.5233	10	0.87932	D	0	.	6.5897	0.22639	0.3157:0.6017:0.0:0.0826	.	776;822	O60658-2;O60658	.;PDE8A_HUMAN	W	822;822;776	ENSP00000311453:R822W;ENSP00000378056:R822W;ENSP00000340679:R776W	ENSP00000311453:R822W	R	+	1	2	PDE8A	83482112	0.993000	0.37304	0.854000	0.33618	0.026000	0.11368	0.790000	0.26900	0.796000	0.33947	0.561000	0.74099	CGG		0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		13	18	0	0	0	1	0	13	18				
ZNF782	158431	broad.mit.edu	37	9	99581281	99581281	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:99581281G>A	ENST00000481138.1	-	6	1685	c.1024C>T	c.(1024-1026)Cca>Tca	p.P342S	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.P210S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCTGTACATGGGTGATAATCA	0.408																																						ENST00000481138.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(1024-1026)Cca>Tca		zinc finger protein 782							150.0	140.0	143.0					9																	99581281		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581281G>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1024C>T	9.37:g.99581281G>A	ENSP00000419397:p.Pro342Ser					ZNF782_ENST00000535338.1_Missense_Mutation_p.P210S	p.P342S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN			6	1685	-		Acute lymphoblastic leukemia(62;0.0527)	342					B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1024C>T	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.847|8.847	0.943579|0.943579	0.18281|0.18281	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|T;T	.|0.14640	.|2.49;2.49	3.52|3.52	1.14|1.14	0.20703|0.20703	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.|.	.|.	.|.	.|.	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.04880|0.04880	-0.145|-0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.35001|0.35001	-0.9806|-0.9806	5|9	.|0.66056	.|D	.|0.02	.|.	3.2957|3.2957	0.06965|0.06965	0.0:0.227:0.2189:0.5541|0.0:0.227:0.2189:0.5541	.|.	.|342	.|Q6ZMW2	.|ZN782_HUMAN	L|S	330|342;210	.|ENSP00000419397:P342S;ENSP00000440624:P210S	.|ENSP00000419397:P342S	P|P	-|-	2|1	0|0	ZNF782|ZNF782	98621102|98621102	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.081000|0.081000	0.17604|0.17604	-0.728000|-0.728000	0.04925|0.04925	0.247000|0.247000	0.21414|0.21414	-0.285000|-0.285000	0.09966|0.09966	CCC|CCA		0.408	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		53	96	0	0	0	1	0	53	96				
SLC4A2	6522	broad.mit.edu	37	7	150767909	150767909	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:150767909C>T	ENST00000485713.1	+	12	2700	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R554C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R545C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R472C|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R540C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	554					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCTGTGCGTTTCCTCTT	0.632																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1660-1662)Cgt>Tgt		solute carrier family 4 (anion exchanger), member 2							158.0	137.0	144.0					7																	150767909		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767909C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1660C>T	7.37:g.150767909C>T	ENSP00000419412:p.Arg554Cys					SLC4A2_ENST00000461735.1_Missense_Mutation_p.R540C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R472C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R554C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R545C	p.R554C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2700	+			554					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1660C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084031	0.55861	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	4.75	4.75	0.60458	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	H	0.96142	3.775	0.80722	D	1	D;P;P	0.55385	0.971;0.925;0.939	P;P;P	0.61533	0.89;0.633;0.749	D	0.93494	0.6838	10	0.87932	D	0	.	15.3122	0.74042	0.0:1.0:0.0:0.0	.	545;540;554	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	554;554;472;545;540	ENSP00000419412:R554C;ENSP00000405600:R554C;ENSP00000311402:R472C;ENSP00000376571:R545C;ENSP00000419164:R540C	ENSP00000311402:R472C	R	+	1	0	SLC4A2	150398842	0.985000	0.35326	1.000000	0.80357	0.394000	0.30568	1.163000	0.31798	2.474000	0.83562	0.650000	0.86243	CGT		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		18	21	0	0	0	1	0	18	21				
COL6A3	1293	broad.mit.edu	37	2	238256467	238256467	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:238256467C>A	ENST00000295550.4	-	31	7464	c.7012G>T	c.(7012-7014)Ggc>Tgc	p.G2338C	COL6A3_ENST00000346358.4_Missense_Mutation_p.G2138C|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2137C|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2132C|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1731C|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2132C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2338	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCTGATGCCTTTGGGTCCT	0.498																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7012-7014)Ggc>Tgc		collagen, type VI, alpha 3							145.0	115.0	125.0					2																	238256467		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238256467C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7012G>T	2.37:g.238256467C>A	ENSP00000295550:p.Gly2338Cys					COL6A3_ENST00000472056.1_Missense_Mutation_p.G1731C|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2132C|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2138C|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2132C|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2137C	p.G2338C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	31	7464	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2338			Collagen-like 5.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7012G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258002	0.59321	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99537	-5.16;-5.16;-5.53;-6.11;-5.53;-5.16	4.56	4.56	0.56223	.	0.000000	0.50627	D	0.000113	D	0.99809	0.9917	H	0.98629	4.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96607	0.9449	10	0.87932	D	0	.	16.5242	0.84326	0.0:1.0:0.0:0.0	.	1731;1731;2132;2338	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	C	2338;2137;2132;1731;2132;2138	ENSP00000295550:G2338C;ENSP00000315609:G2137C;ENSP00000315873:G2132C;ENSP00000418285:G1731C;ENSP00000386844:G2132C;ENSP00000295546:G2138C	ENSP00000295550:G2338C	G	-	1	0	COL6A3	237921206	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.736000	0.74811	2.374000	0.81015	0.655000	0.94253	GGC		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		3	16	1	0	0.150653	1	0.151081	3	16				
NUP210	23225	broad.mit.edu	37	3	13377070	13377070	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:13377070C>T	ENST00000254508.5	-	28	3809	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1243					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGCCGAGCACGTTCATGGCA	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3727-3729)Gtg>Atg		nucleoporin 210kDa							81.0	77.0	79.0					3																	13377070		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377070C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3727G>A	3.37:g.13377070C>T	ENSP00000254508:p.Val1243Met						p.V1243M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			28	3809	-	all_neural(104;0.187)		1243					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3727G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291743	0.59976	.	.	ENSG00000132182	ENST00000254508	T	0.10099	2.91	5.28	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.14531	-1.0469	10	0.49607	T	0.09	.	14.1718	0.65514	0.0:0.9277:0.0:0.0723	.	1243	Q8TEM1	PO210_HUMAN	M	1243	ENSP00000254508:V1243M	ENSP00000254508:V1243M	V	-	1	0	NUP210	13352070	0.997000	0.39634	0.853000	0.33588	0.280000	0.26924	3.572000	0.53849	1.350000	0.45770	0.655000	0.94253	GTG		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		3	23	0	0	0	1	0	3	23				
PRR11	55771	broad.mit.edu	37	17	57247185	57247185	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:57247185C>A	ENST00000262293.4	+	2	384	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	24						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAAAAGAAGCCTCTCACTTTC	0.378																																						ENST00000262293.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16						c.(70-72)gcC>gcA		proline rich 11							90.0	89.0	90.0					17																	57247185		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57247185C>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.72C>A	17.37:g.57247185C>A							p.A24A	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN			2	384	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		24					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.72C>A	CCDS11614.1																																																																																				0.378	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		36	60	1	0	2.1956e-27	1	2.45572e-27	36	60				
SLC4A3	6508	broad.mit.edu	37	2	220500496	220500496	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220500496C>T	ENST00000358055.3	+	14	2586	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R719W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R692W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R719W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R692W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	692					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAGGCGCCGGTACCCGCA	0.627																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2074-2076)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 3							35.0	35.0	35.0					2																	220500496		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220500496C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2074C>T	2.37:g.220500496C>T	ENSP00000350756:p.Arg692Trp					SLC4A3_ENST00000373760.2_Missense_Mutation_p.R692W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R719W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R719W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R692W	p.R692W			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2586	+		Renal(207;0.0183)	692					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2074C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504822	0.85176	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	4.09	4.09	0.47781	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93974	0.7252	10	0.87932	D	0	.	11.9508	0.52954	0.219:0.781:0.0:0.0	.	396;692;719	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	692;692;719;719;692	ENSP00000350756:R692W;ENSP00000362865:R692W;ENSP00000273063:R719W;ENSP00000362867:R719W;ENSP00000314006:R692W	ENSP00000273063:R719W	R	+	1	2	SLC4A3	220208740	0.975000	0.34042	0.999000	0.59377	0.998000	0.95712	2.466000	0.45084	2.264000	0.75181	0.643000	0.83706	CGG		0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		5	7	0	0	0	1	0	5	7				
ACTBL2	345651	broad.mit.edu	37	5	56777946	56777946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:56777946G>A	ENST00000423391.1	-	1	690	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTATAGCCTCGCTCTGTCAGG	0.532																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(589-591)Cga>Tga		actin, beta-like 2							100.0	81.0	87.0					5																	56777946		2203	4300	6503	SO:0001587	stop_gained	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777946G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.589C>T	5.37:g.56777946G>A	ENSP00000416706:p.Arg197*					CTD-2023N9.1_ENST00000506106.1_RNA	p.R197*	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	690	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	197					B2RPJ1|Q562R2|Q562S9|Q562X8	Nonsense_Mutation	SNP	ENST00000423391.1	37	c.589C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670633	0.88348	.	.	ENSG00000169067	ENST00000423391	.	.	.	4.77	-0.967	0.10316	.	0.094398	0.39083	N	0.001479	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.8237	0.35041	0.08:0.0:0.2704:0.6496	.	.	.	.	X	197	.	ENSP00000416706:R197X	R	-	1	2	ACTBL2	56813703	0.419000	0.25449	0.665000	0.29768	0.972000	0.66771	0.185000	0.16958	-0.077000	0.12752	-0.181000	0.13052	CGA		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		28	27	0	0	0	1	0	28	27				
DHRS4L2	317749	broad.mit.edu	37	14	24470245	24470245	+	Silent	SNP	C	C	T	rs375756199		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:24470245C>T	ENST00000335125.6	+	5	609	c.483C>T	c.(481-483)ggC>ggT	p.G161G	DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.G159G	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	159						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TTTCCAGAGGCGGCTCAGTGG	0.552													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20234	0.0		0.0	False		,,,				2504	0.0					ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(481-483)ggC>ggT		dehydrogenase/reductase (SDR family) member 4 like 2		T	,,,	3,4403		0,3,2200	164.0	162.0	163.0		297,180,,483	-7.9	0.0	14		163	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	DHRS4L2	NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3	,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,	99/171,60/132,,161/233	24470245	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24470245C>T		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.483C>T	14.37:g.24470245C>T						DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.G159G|DHRS4L2_ENST00000397071.1_Intron	p.G161G	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	5	609	+			99					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.483C>T	CCDS9606.2																																																																																				0.552	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			21	66	0	0	0	1	0	21	66				
TNFSF14	8740	broad.mit.edu	37	19	6664968	6664968	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:6664968G>A	ENST00000599359.1	-	5	1073	c.692C>T	c.(691-693)aCc>aTc	p.T231I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.T195I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T195I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	231					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GTAAGACCGGGTACCATCACG	0.592																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(583-585)aCc>aTc		tumor necrosis factor (ligand) superfamily, member 14							197.0	165.0	176.0					19																	6664968		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664968G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.692C>T	19.37:g.6664968G>A	ENSP00000469049:p.Thr231Ile					TNFSF14_ENST00000245912.3_Missense_Mutation_p.T195I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T231I	p.T195I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	965	-			231					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.584C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242947	0.39697	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.30182	1.54	4.46	4.46	0.54185	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.366162	0.24035	N	0.042158	T	0.50803	0.1637	L	0.55834	1.745	0.23421	N	0.997719	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	T	0.43861	-0.9365	10	0.62326	D	0.03	-0.5028	15.9041	0.79406	0.0:0.0:1.0:0.0	.	231;195	O43557;O43557-2	TNF14_HUMAN;.	I	231;195	ENSP00000326940:T195I	ENSP00000245912:T231I	T	-	2	0	TNFSF14	6615968	0.472000	0.25870	0.044000	0.18714	0.099000	0.18886	3.201000	0.51059	2.038000	0.60285	0.561000	0.74099	ACC		0.592	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			35	43	0	0	0	1	0	35	43				
FICD	11153	broad.mit.edu	37	12	108912734	108912734	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:108912734A>G	ENST00000552695.1	+	3	1094	c.859A>G	c.(859-861)Atc>Gtc	p.I287V	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	287	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTCCGTCACCATCAGCGACGT	0.612																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(859-861)Atc>Gtc		FIC domain containing							73.0	51.0	59.0					12																	108912734		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912734A>G	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.859A>G	12.37:g.108912734A>G	ENSP00000446479:p.Ile287Val					FICD_ENST00000361549.2_3'UTR	p.I287V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	1094	+			287			Fido.		O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.859A>G	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.850452	0.00563	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.02	2.28	0.28536	Filamentation induced by cAMP/death on curing-related (3);	0.314276	0.38548	N	0.001643	T	0.25865	0.0630	N	0.05031	-0.125	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04427	-1.0952	9	0.14656	T	0.56	0.1368	8.6327	0.33928	0.5652:0.3695:0.0653:0.0	.	287	Q9BVA6	FICD_HUMAN	V	287	.	ENSP00000446479:I287V	I	+	1	0	FICD	107436864	1.000000	0.71417	0.266000	0.24541	0.056000	0.15407	2.360000	0.44151	0.144000	0.18951	0.533000	0.62120	ATC		0.612	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		6	18	0	0	0	1	0	6	18				
MAMDC2	256691	broad.mit.edu	37	9	72723166	72723166	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:72723166G>A	ENST00000377182.4	+	3	805	c.188G>A	c.(187-189)gGg>gAg	p.G63E	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	63	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGCAAGCAGGGGGAGAAAGCT	0.458																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(187-189)gGg>gAg		MAM domain containing 2							114.0	111.0	112.0					9																	72723166		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72723166G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.188G>A	9.37:g.72723166G>A	ENSP00000366387:p.Gly63Glu					MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	p.G63E	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			3	805	+			63			MAM 1.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.188G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960159	0.74016	.	.	ENSG00000165072	ENST00000377182	T	0.02812	4.15	5.87	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.289290	0.39020	N	0.001481	T	0.07773	0.0195	M	0.74881	2.28	0.48901	D	0.999723	P	0.43578	0.811	P	0.44772	0.46	T	0.09228	-1.0684	10	0.45353	T	0.12	-26.6679	14.7384	0.69434	0.0693:0.0:0.9307:0.0	.	63	Q7Z304	MAMC2_HUMAN	E	63	ENSP00000366387:G63E	ENSP00000366387:G63E	G	+	2	0	MAMDC2	71912986	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.686000	0.61700	1.477000	0.48234	0.650000	0.86243	GGG		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		29	43	0	0	0	1	0	29	43				
RBM5	10181	broad.mit.edu	37	3	50151655	50151655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:50151655C>T	ENST00000347869.3	+	20	1985	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	604	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAATTGGTGCGAAATGGAGA	0.468																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(1810-1812)Cga>Tga		RNA binding motif protein 5							99.0	94.0	95.0					3																	50151655		2203	4300	6503	SO:0001587	stop_gained	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50151655C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1810C>T	3.37:g.50151655C>T	ENSP00000343054:p.Arg604*						p.R604*	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	1985	+			604			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	37	c.1810C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	38	7.217394	0.98143	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.49	4.54	0.55810	.	0.908914	0.09463	N	0.798746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-6.6242	9.8686	0.41160	0.2537:0.7463:0.0:0.0	.	.	.	.	X	604;603;294	.	ENSP00000343054:R604X	R	+	1	2	RBM5	50126659	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.990000	0.56965	2.583000	0.87209	0.561000	0.74099	CGA		0.468	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		20	27	0	0	0	1	0	20	27				
POLE	5426	broad.mit.edu	37	12	133209374	133209374	+	Silent	SNP	G	G	A	rs147806951		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:133209374G>A	ENST00000320574.5	-	44	6055	c.6012C>T	c.(6010-6012)atC>atT	p.I2004I	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.I1977I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2004					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACACGGCCACGATGTACGCTG	0.652								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(6010-6012)atC>atT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G		0,4406		0,0,2203	43.0	43.0	43.0		6012	-10.3	0.2	12	dbSNP_134	43	1,8595		0,1,4297	no	coding-synonymous	POLE	NM_006231.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		2004/2287	133209374	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133209374G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6012C>T	12.37:g.133209374G>A						POLE_ENST00000535270.1_Silent_p.I1977I	p.I2004I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	44	6055	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2004					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.6012C>T	CCDS9278.1																																																																																				0.652	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		16	19	0	0	0	1	0	16	19				
PIK3CA	5290	broad.mit.edu	37	3	178937024	178937024	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:178937024C>A	ENST00000263967.3	+	11	1862	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	569	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCCAAATTGCTTCTGTCTGT	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1705-1707)Ctt>Att		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							120.0	109.0	112.0					3																	178937024		1834	4082	5916	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937024C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1705C>A	3.37:g.178937024C>A	ENSP00000263967:p.Leu569Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L569I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		11	1862	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		569			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1705C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649528	0.87958	.	.	ENSG00000121879	ENST00000263967	T	0.78246	-1.16	5.46	5.46	0.80206	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.89068	0.3467	10	0.66056	D	0.02	-31.7202	19.6635	0.95885	0.0:1.0:0.0:0.0	.	569	P42336	PK3CA_HUMAN	I	569	ENSP00000263967:L569I	ENSP00000263967:L569I	L	+	1	0	PIK3CA	180419718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.531000	0.60602	2.720000	0.93068	0.655000	0.94253	CTT		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	45	1	0	2.79863e-10	1	2.98826e-10	24	45				
WT1	7490	broad.mit.edu	37	11	32417839	32417839	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:32417839G>A	ENST00000379079.2	-	7	850	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	WT1_ENST00000332351.3_Silent_p.L405L|WT1_ENST00000448076.3_Silent_p.L405L|WT1_ENST00000530998.1_Silent_p.L176L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	337					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L337fs*5(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGTGGGACAGCTTAAAATAT	0.527			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	1	Insertion - Frameshift(1)	p.L337fs*5(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1213-1215)Ctg>Ttg		Wilms tumor 1							143.0	121.0	128.0					11																	32417839		2202	4299	6501	SO:0001819	synonymous_variant	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32417839G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.577C>T	11.37:g.32417839G>A						WT1_ENST00000448076.3_Silent_p.L405L|WT1_ENST00000379079.2_Silent_p.L193L|WT1_ENST00000530998.1_Silent_p.L176L	p.L405L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1497	-	Breast(20;0.247)		337		H -> R (in DDS).			A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1213C>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350875	0.24512	.	.	ENSG00000184937	ENST00000527882	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63233	-0.6683	4	.	.	.	.	12.74	0.57246	0.1317:0.0:0.8683:0.0	.	.	.	.	V	95	.	.	A	-	2	0	WT1	32374415	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.660000	0.61511	1.626000	0.50381	0.655000	0.94253	GCT		0.527	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		21	32	0	0	0	1	0	21	32				
NUP107	57122	broad.mit.edu	37	12	69107518	69107518	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:69107518C>A	ENST00000229179.4	+	11	1231	c.899C>A	c.(898-900)aCt>aAt	p.T300N	NUP107_ENST00000539906.1_Missense_Mutation_p.T271N|NUP107_ENST00000378905.2_Missense_Mutation_p.T149N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	300					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGGAAAATACTCTGCATACC	0.328																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(898-900)aCt>aAt		nucleoporin 107kDa							80.0	83.0	82.0					12																	69107518		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69107518C>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.899C>A	12.37:g.69107518C>A	ENSP00000229179:p.Thr300Asn					NUP107_ENST00000539906.1_Missense_Mutation_p.T271N|NUP107_ENST00000378905.2_Missense_Mutation_p.T149N	p.T300N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1231	+	Breast(13;6.25e-06)		300					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.899C>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878391	0.72294	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86522	0.1816	8	.	.	.	-17.1062	18.0387	0.89313	0.0:1.0:0.0:0.0	.	271;149;300	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	300;149;271	.	.	T	+	2	0	NUP107	67393785	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.335000	0.65929	2.434000	0.82447	0.455000	0.32223	ACT		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		23	51	1	0	3.28513e-13	1	3.56457e-13	23	51				
HYDIN	54768	broad.mit.edu	37	16	70867855	70867855	+	Silent	SNP	G	G	A	rs202133666	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70867855G>A	ENST00000393567.2	-	79	13764	c.13614C>T	c.(13612-13614)ccC>ccT	p.P4538P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4538					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)				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)				GATACACCACGGGTCCAAAGG	0.597																																						ENST00000393567.2																			0				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						c.(13612-13614)ccC>ccT		HYDIN, axonemal central pair apparatus protein							24.0	25.0	25.0					16																	70867855		2000	4154	6154	SO:0001819	synonymous_variant	54768							g.chr16:70867855G>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.13614C>T	16.37:g.70867855G>A							p.P4538P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			79	13764	-		Ovarian(137;0.0654)	4538					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.13614C>T	CCDS59269.1																																																																																				0.597	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	10	0	0	0	1	0	4	10				
CKAP5	9793	broad.mit.edu	37	11	46818416	46818416	+	Silent	SNP	G	G	A	rs138784594	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46818416G>A	ENST00000529230.1	-	12	1459	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	CKAP5_ENST00000532321.1_5'Flank|CKAP5_ENST00000415402.1_Silent_p.G471G|CKAP5_ENST00000312055.5_Silent_p.G471G|CKAP5_ENST00000354558.3_Silent_p.G471G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	471					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGCTTTCTCGCCAACCACCT	0.428													G|||	3	0.000599042	0.0	0.0029	5008	,	,		19288	0.0		0.001	False		,,,				2504	0.0				Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1411-1413)ggC>ggT		cytoskeleton associated protein 5							183.0	149.0	160.0					11																	46818416		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46818416G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1413C>T	11.37:g.46818416G>A						CKAP5_ENST00000312055.5_Silent_p.G471G|CKAP5_ENST00000354558.3_Silent_p.G471G|CKAP5_ENST00000415402.1_Silent_p.G471G	p.G471G			Q14008	CKAP5_HUMAN			12	1459	-			471					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.1413C>T	CCDS31477.1																																																																																				0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		43	56	0	0	0	1	0	43	56				
MON1A	84315	broad.mit.edu	37	3	49948222	49948222	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49948222G>T	ENST00000417270.1	-	5	1426	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	MON1A_ENST00000455683.2_Missense_Mutation_p.L172I|MON1A_ENST00000483022.1_5'Flank|MON1A_ENST00000296473.3_Missense_Mutation_p.L334I|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	237										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGATGTAGAGCAGCTCCTGC	0.592																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(733-735)Ctc>Atc		MON1 secretory trafficking family member A							49.0	47.0	48.0					3																	49948222		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49948222G>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.733C>A	3.37:g.49948222G>T	ENSP00000399613:p.Leu245Ile					MON1A_ENST00000455683.2_Missense_Mutation_p.L172I|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.L334I	p.L245I			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1426	-			237					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.733C>A		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186703	0.78789	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.62	4.56	0.56223	.	0.116081	0.64402	D	0.000015	T	0.67078	0.2855	L	0.50333	1.59	0.42629	D	0.993371	P;D;P	0.67145	0.843;0.996;0.951	P;P;P	0.61477	0.544;0.889;0.783	T	0.65882	-0.6060	8	.	.	.	-26.0757	15.4113	0.74923	0.0779:0.0:0.9221:0.0	.	75;172;237	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	I	334;245;172	.	.	L	-	1	0	MON1A	49923226	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.926000	0.87569	2.654000	0.90174	0.555000	0.69702	CTC		0.592	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		3	30	1	0	6.4e-05	1	6.5734e-05	3	30				
LGSN	51557	broad.mit.edu	37	6	64029819	64029819	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:64029819C>A	ENST00000370657.4	-	1	63	c.30G>T	c.(28-30)gaG>gaT	p.E10D	LGSN_ENST00000370658.5_Splice_Site_p.E10D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	10					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCTTCATACCTCCTGCAGAA	0.303																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.e1+1		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						95.0	89.0	91.0					6																	64029819		2203	4299	6502	SO:0001630	splice_region_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64029819C>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.30+1G>T	6.37:g.64029819C>A						LGSN_ENST00000370657.4_Splice_Site_p.E10_splice	p.E10_splice	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			1	63	-			10					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Splice_Site	SNP	ENST00000370657.4	37	c.30_splice	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424879	0.25639	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.27256	1.68;1.77	5.41	5.41	0.78517	.	0.834487	0.10611	N	0.654453	T	0.17874	0.0429	L	0.51422	1.61	0.27155	N	0.961301	P;B;P	0.46987	0.799;0.361;0.888	B;B;P	0.44561	0.259;0.121;0.453	T	0.07501	-1.0769	9	.	.	.	-6.4445	14.6963	0.69124	0.0:1.0:0.0:0.0	.	10;10;10	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	D	10	ENSP00000359692:E10D;ENSP00000359691:E10D	.	E	-	3	2	LGSN	64087778	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	3.454000	0.52986	2.542000	0.85734	0.585000	0.79938	GAG		0.303	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	Missense_Mutation	12	19	1	0	1.08611e-07	1	1.14056e-07	12	19				
ZNF74	7625	broad.mit.edu	37	22	20759925	20759925	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20759925G>A	ENST00000400451.2	+	5	1116	c.602G>A	c.(601-603)cGc>cAc	p.R201H	ZNF74_ENST00000356671.5_Missense_Mutation_p.R201H|ZNF74_ENST00000405993.1_Missense_Mutation_p.R169H|ZNF74_ENST00000403682.3_Silent_p.T172T|ZNF74_ENST00000357502.5_Silent_p.T206T	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	201					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGGACACACGCAAGAACGTC	0.637																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(601-603)cGc>cAc		zinc finger protein 74							29.0	35.0	33.0					22																	20759925		1998	4160	6158	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20759925G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.602G>A	22.37:g.20759925G>A	ENSP00000383301:p.Arg201His					ZNF74_ENST00000357502.5_Silent_p.T206T|ZNF74_ENST00000356671.5_Missense_Mutation_p.R201H|ZNF74_ENST00000403682.3_Silent_p.T172T|ZNF74_ENST00000405993.1_Missense_Mutation_p.R169H	p.R201H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	1116	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	201					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.602G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.231	0.228044	0.09916	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05996	3.46;3.46;3.36	3.85	-7.7	0.01259	.	2.759500	0.01608	N	0.022418	T	0.02807	0.0084	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38714	-0.9648	10	0.36615	T	0.2	.	7.5061	0.27545	0.3096:0.226:0.4644:0.0	.	201	Q16587	ZNF74_HUMAN	H	201;201;169	ENSP00000383301:R201H;ENSP00000349098:R201H;ENSP00000385855:R169H	ENSP00000349098:R201H	R	+	2	0	ZNF74	19089925	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.954000	0.01025	-0.794000	0.03295	CGC		0.637	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		6	6	0	0	0	1	0	6	6				
USP7	7874	broad.mit.edu	37	16	9017192	9017192	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:9017192G>T	ENST00000344836.4	-	3	461	c.263C>A	c.(262-264)cCt>cAt	p.P88H	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Missense_Mutation_p.P72H|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	88	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AAAACACGGAGGGCTAAGGAC	0.493																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(262-264)cCt>cAt		ubiquitin specific peptidase 7 (herpes virus-associated)							131.0	117.0	122.0					16																	9017192		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9017192G>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.263C>A	16.37:g.9017192G>T	ENSP00000343535:p.Pro88His					USP7_ENST00000381886.4_Missense_Mutation_p.P72H|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR	p.P88H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			3	461	-			88			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.263C>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521969	0.96416	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	T;T	0.69040	-0.37;-0.37	5.57	5.57	0.84162	TRAF-like (1);MATH (3);	0.091173	0.85682	D	0.000000	T	0.76183	0.3952	L	0.52573	1.65	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.57776	0.827;0.827	T	0.77003	-0.2749	10	0.66056	D	0.02	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	88;72	Q93009;B7Z815	UBP7_HUMAN;.	H	88;96;30	ENSP00000343535:P88H;ENSP00000439272:P30H	ENSP00000343535:P88H	P	-	2	0	USP7	8924693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.649000	0.98487	2.793000	0.96121	0.655000	0.94253	CCT		0.493	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			17	39	1	0	3.41278e-10	1	3.64137e-10	17	39				
PTPRD	5789	broad.mit.edu	37	9	8404589	8404589	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:8404589G>A	ENST00000381196.4	-	33	4701	c.4158C>T	c.(4156-4158)taC>taT	p.Y1386Y	PTPRD_ENST00000397611.3_Silent_p.Y976Y|PTPRD_ENST00000537002.1_Silent_p.Y976Y|PTPRD_ENST00000360074.4_Silent_p.Y1373Y|PTPRD_ENST00000358503.5_Silent_p.Y1364Y|PTPRD_ENST00000355233.5_Silent_p.Y980Y|PTPRD_ENST00000486161.1_Silent_p.Y979Y|PTPRD_ENST00000397617.3_Silent_p.Y979Y|PTPRD_ENST00000540109.1_Silent_p.Y1386Y|PTPRD_ENST00000356435.5_Silent_p.Y1386Y|PTPRD_ENST00000397606.3_Silent_p.Y979Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1386	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTACATTCGCGTATCTATTCT	0.383										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4156-4158)taC>taT		protein tyrosine phosphatase, receptor type, D							191.0	160.0	171.0					9																	8404589		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8404589G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4158C>T	9.37:g.8404589G>A		TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Silent_p.Y1386Y|PTPRD_ENST00000537002.1_Silent_p.Y976Y|PTPRD_ENST00000540109.1_Silent_p.Y1386Y|PTPRD_ENST00000355233.5_Silent_p.Y980Y|PTPRD_ENST00000486161.1_Silent_p.Y979Y|PTPRD_ENST00000360074.4_Silent_p.Y1373Y|PTPRD_ENST00000358503.5_Silent_p.Y1364Y|PTPRD_ENST00000397606.3_Silent_p.Y979Y|PTPRD_ENST00000397611.3_Silent_p.Y976Y|PTPRD_ENST00000397617.3_Silent_p.Y979Y	p.Y1386Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	33	4701	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1386			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4158C>T	CCDS43786.1																																																																																				0.383	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			27	36	0	0	0	1	0	27	36				
LACE1	246269	broad.mit.edu	37	6	108798484	108798484	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:108798484C>T	ENST00000368977.4	+	10	1237	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	351						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ATTTGAAGAGCTGTGTGAGAG	0.448																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1051-1053)Ctg>Ttg		lactation elevated 1							100.0	97.0	98.0					6																	108798484		2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108798484C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1051C>T	6.37:g.108798484C>T							p.L351L	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	10	1237	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	351					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.1051C>T	CCDS5067.1																																																																																				0.448	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		14	27	0	0	0	1	0	14	27				
MPO	4353	broad.mit.edu	37	17	56356548	56356548	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56356548G>A	ENST00000225275.3	-	6	882	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.R268C	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	236					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GTGGGGAAGCGCACGATCTCG	0.687																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(802-804)Cgc>Tgc		myeloperoxidase	Cefdinir(DB00535)						48.0	46.0	47.0					17																	56356548		2203	4299	6502	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356548G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.706C>T	17.37:g.56356548G>A	ENSP00000225275:p.Arg236Cys					MPO_ENST00000225275.3_Missense_Mutation_p.R236C	p.R268C			P05164	PERM_HUMAN			5	978	-			236					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.802C>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076199	0.76415	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.70399	-0.48;-0.48	5.37	4.4	0.53042	.	0.181750	0.49305	D	0.000160	D	0.86024	0.5834	M	0.92122	3.275	0.58432	D	0.999991	D	0.89917	1.0	D	0.70716	0.97	D	0.88279	0.2935	10	0.59425	D	0.04	-27.3143	12.573	0.56347	0.0798:0.0:0.9202:0.0	.	236	P05164	PERM_HUMAN	C	268;236	ENSP00000344419:R268C;ENSP00000225275:R236C	ENSP00000225275:R236C	R	-	1	0	MPO	53711547	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.938000	0.63519	2.536000	0.85505	0.462000	0.41574	CGC		0.687	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			10	9	0	0	0	1	0	10	9				
SDPR	8436	broad.mit.edu	37	2	192711277	192711277	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:192711277C>T	ENST00000304141.4	-	1	704	c.375G>A	c.(373-375)acG>acA	p.T125T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGACCGCGCGCGTGTGGGCGC	0.602																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(373-375)acG>acA		serum deprivation response	Phosphatidylserine(DB00144)						73.0	66.0	68.0					2																	192711277		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711277C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.375G>A	2.37:g.192711277C>T						AC098617.1_ENST00000424116.2_RNA	p.T125T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	704	-			125						Silent	SNP	ENST00000304141.4	37	c.375G>A	CCDS2313.1																																																																																				0.602	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		25	30	0	0	0	1	0	25	30				
NSMAF	8439	broad.mit.edu	37	8	59544078	59544078	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:59544078C>T	ENST00000038176.3	-	6	573	c.361G>A	c.(361-363)Gtt>Att	p.V121I	NSMAF_ENST00000427130.2_Missense_Mutation_p.V152I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	121					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATGGTGCAACAACATTATGT	0.259																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(361-363)Gtt>Att		neutral sphingomyelinase (N-SMase) activation associated factor							48.0	51.0	50.0					8																	59544078		2181	4263	6444	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59544078C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.361G>A	8.37:g.59544078C>T	ENSP00000038176:p.Val121Ile					NSMAF_ENST00000427130.2_Missense_Mutation_p.V152I	p.V121I	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			6	573	-		all_lung(136;0.174)|Lung NSC(129;0.2)	121					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.361G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150951	0.38021	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.53423	0.62;0.62	5.16	4.27	0.50696	.	0.171809	0.52532	N	0.000068	T	0.30324	0.0761	N	0.20986	0.625	0.32281	N	0.567585	B;B;B	0.16802	0.011;0.009;0.019	B;B;B	0.14023	0.01;0.006;0.008	T	0.30880	-0.9963	9	.	.	.	.	9.2007	0.37256	0.0:0.7856:0.0:0.2144	.	152;121;121	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	I	121;152	ENSP00000038176:V121I;ENSP00000411012:V152I	.	V	-	1	0	NSMAF	59706632	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	1.967000	0.40491	1.290000	0.44636	0.591000	0.81541	GTT		0.259	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		7	13	0	0	0	1	0	7	13				
DBH	1621	broad.mit.edu	37	9	136501721	136501721	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136501721C>T	ENST00000393056.2	+	1	240	c.228C>T	c.(226-228)ctC>ctT	p.L76L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	76	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.L76L(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	ATTTCCAGCTCCTGGTGCGGA	0.627																																						ENST00000393056.2																			1	Substitution - coding silent(1)	p.L76L(1)	endometrium(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(226-228)ctC>ctT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						65.0	50.0	55.0					9																	136501721		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501721C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.228C>T	9.37:g.136501721C>T							p.L76L	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	240	+			76			DOMON.		Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.228C>T	CCDS6977.2																																																																																				0.627	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		16	14	0	0	0	1	0	16	14				
CACNG8	59283	broad.mit.edu	37	19	54483212	54483212	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54483212G>A	ENST00000270458.2	+	3	562	c.459G>A	c.(457-459)aaG>aaA	p.K153K	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	153					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGTCTACAAGTCCAAGAGGA	0.687																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(457-459)aaG>aaA		calcium channel, voltage-dependent, gamma subunit 8							39.0	39.0	39.0					19																	54483212		2203	4300	6503	SO:0001819	synonymous_variant	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483212G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.459G>A	19.37:g.54483212G>A							p.K153K	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	562	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		153					Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.459G>A	CCDS33104.1																																																																																				0.687	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	6	0	0	0	1	0	4	6				
FHL5	9457	broad.mit.edu	37	6	97051568	97051568	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:97051568C>T	ENST00000326771.2	+	3	459	c.79C>T	c.(79-81)Cca>Tca	p.P27S	FHL5_ENST00000541107.1_Missense_Mutation_p.P27S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	27					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GGATGACAGTCCATACTGTGT	0.353																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(79-81)Cca>Tca		four and a half LIM domains 5							182.0	156.0	165.0					6																	97051568		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051568C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.79C>T	6.37:g.97051568C>T	ENSP00000326022:p.Pro27Ser					FHL5_ENST00000541107.1_Missense_Mutation_p.P27S	p.P27S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	459	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	27					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.79C>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	5.976	0.364096	0.11296	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.88201	-2.35;-2.35;-2.35	5.65	2.82	0.32997	Zinc finger, LIM-type (1);	0.744263	0.11575	N	0.550338	D	0.85221	0.5647	M	0.87180	2.865	0.09310	N	1	P	0.44006	0.824	B	0.39339	0.297	T	0.78059	-0.2352	10	0.66056	D	0.02	.	13.0512	0.58957	0.0959:0.6083:0.2958:0.0	.	27	Q5TD97	FHL5_HUMAN	S	27	ENSP00000442357:P27S;ENSP00000326022:P27S;ENSP00000396390:P27S	ENSP00000326022:P27S	P	+	1	0	FHL5	97158289	0.001000	0.12720	0.203000	0.23512	0.024000	0.10985	1.317000	0.33631	0.740000	0.32651	-0.189000	0.12847	CCA		0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		38	54	0	0	0	1	0	38	54				
CDS2	8760	broad.mit.edu	37	20	5169772	5169772	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:5169772G>A	ENST00000460006.1	+	11	1348	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	CDS2_ENST00000379062.4_Silent_p.S227S|CDS2_ENST00000535100.1_Silent_p.S117S|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	347					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCTTTGCCTCGCTCATTGGCC	0.463																																						ENST00000460006.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1039-1041)tcG>tcA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2							170.0	158.0	162.0					20																	5169772		2203	4300	6503	SO:0001819	synonymous_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169772G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1041G>A	20.37:g.5169772G>A						CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.S227S|CDS2_ENST00000535100.1_Silent_p.S117S	p.S347S	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN			11	1348	+			347					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	ENST00000460006.1	37	c.1041G>A	CCDS13088.1																																																																																				0.463	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			11	64	0	0	0	1	0	11	64				
MMRN2	79812	broad.mit.edu	37	10	88702705	88702705	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:88702705C>T	ENST00000372027.5	-	6	2157	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	612					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCCCGAAGAGCGCGGCCAGCA	0.741																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1834-1836)gcG>gcA		multimerin 2							15.0	14.0	14.0					10																	88702705		2181	4277	6458	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702705C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1836G>A	10.37:g.88702705C>T							p.A612A	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1909	-			612					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.1836G>A	CCDS7379.1																																																																																				0.741	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		4	3	0	0	0	1	0	4	3				
RSG1	79363	broad.mit.edu	37	1	16559499	16559499	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:16559499G>A	ENST00000375599.3	-	3	698	c.279C>T	c.(277-279)acC>acT	p.T93T		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	93	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AAAATACCACGGTGGTCTGGA	0.552																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(277-279)acC>acT		REM2 and RAB-like small GTPase 1							75.0	79.0	78.0					1																	16559499		2203	4300	6503	SO:0001819	synonymous_variant	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559499G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.279C>T	1.37:g.16559499G>A							p.T93T	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			3	698	-			93			Small GTPase-like.		Q5TEV7	Silent	SNP	ENST00000375599.3	37	c.279C>T	CCDS171.1																																																																																				0.552	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		22	39	0	0	0	1	0	22	39				
IQGAP3	128239	broad.mit.edu	37	1	156498308	156498308	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156498308C>T	ENST00000361170.2	-	36	4676	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1556					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.A1556T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACTGAGAGGCGGGAAGATCT	0.547																																						ENST00000361170.2																			1	Substitution - Missense(1)	p.A1556T(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4666-4668)Gcc>Acc		IQ motif containing GTPase activating protein 3							74.0	74.0	74.0					1																	156498308		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156498308C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4666G>A	1.37:g.156498308C>T	ENSP00000354451:p.Ala1556Thr						p.A1556T	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			36	4676	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1556					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4666G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	1.465	-0.561413	0.03939	.	.	ENSG00000183856	ENST00000361170	T	0.02258	4.37	4.94	-2.23	0.06930	.	1.504990	0.03438	N	0.208809	T	0.00210	0.0006	N	0.00801	-1.175	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46470	-0.9189	10	0.10636	T	0.68	-0.0471	2.2194	0.03969	0.1185:0.1534:0.3527:0.3754	.	1556	Q86VI3	IQGA3_HUMAN	T	1556	ENSP00000354451:A1556T	ENSP00000354451:A1556T	A	-	1	0	IQGAP3	154764932	0.000000	0.05858	0.058000	0.19502	0.993000	0.82548	-2.627000	0.00874	-0.653000	0.05401	-0.218000	0.12543	GCC		0.547	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		18	32	0	0	0	1	0	18	32				
CLNK	116449	broad.mit.edu	37	4	10515166	10515166	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:10515166G>A	ENST00000226951.6	-	16	1067	c.828C>T	c.(826-828)agC>agT	p.S276S	CLNK_ENST00000515667.1_Silent_p.S14S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	276					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GAGGGCTGCAGCTGGCTGGAG	0.478																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(826-828)agC>agT		cytokine-dependent hematopoietic cell linker							76.0	73.0	74.0					4																	10515166		1971	4168	6139	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515166G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.828C>T	4.37:g.10515166G>A						CLNK_ENST00000515667.1_Silent_p.S14S	p.S276S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			16	1067	-			276					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.828C>T	CCDS47024.1																																																																																				0.478	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		6	5	0	0	0	1	0	6	5				
INTS2	57508	broad.mit.edu	37	17	60003749	60003749	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:60003749G>A	ENST00000444766.3	-	2	356	c.281C>T	c.(280-282)gCt>gTt	p.A94V	INTS2_ENST00000251334.6_Missense_Mutation_p.A86V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	94					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGTTCTAAAGCATGAAAGTC	0.403																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(280-282)gCt>gTt		integrator complex subunit 2							98.0	94.0	96.0					17																	60003749		1903	4124	6027	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003749G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.281C>T	17.37:g.60003749G>A	ENSP00000414237:p.Ala94Val					INTS2_ENST00000251334.6_Missense_Mutation_p.A86V	p.A94V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			2	356	-			94					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.281C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668925	0.67814	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.46063	0.88	5.68	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.46157	1.445	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.12760	-1.0535	9	.	.	.	-14.1376	14.6116	0.68519	0.0698:0.0:0.9302:0.0	.	94	Q9H0H0	INT2_HUMAN	V	94;93	ENSP00000414237:A94V	.	A	-	2	0	INTS2	57358531	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.393000	0.97256	1.416000	0.47057	0.561000	0.74099	GCT		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		19	28	0	0	0	1	0	19	28				
C15orf27	123591	broad.mit.edu	37	15	76430183	76430183	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:76430183C>A	ENST00000388942.3	+	3	450	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	58					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCGATCTCTCCACGGCGGGCT	0.542																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(172-174)tcC>tcA		chromosome 15 open reading frame 27							70.0	76.0	74.0					15																	76430183		1988	4161	6149	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76430183C>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.174C>A	15.37:g.76430183C>A							p.S58S	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			3	450	+			58					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.174C>A	CCDS10289.2																																																																																				0.542	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		17	34	1	0	1.33834e-09	1	1.42249e-09	17	34				
AHNAK2	113146	broad.mit.edu	37	14	105420184	105420184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:105420184G>A	ENST00000333244.5	-	7	1723	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	535						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCACCCGGCTCCTTCCAC	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1603-1605)gCc>gTc		AHNAK nucleoprotein 2							149.0	159.0	156.0					14																	105420184		2044	4190	6234	SO:0001583	missense	113146					nucleus		g.chr14:105420184G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1604C>T	14.37:g.105420184G>A	ENSP00000353114:p.Ala535Val					AHNAK2_ENST00000557457.1_Intron	p.A535V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	535					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1604C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.425750	0.25639	.	.	ENSG00000185567	ENST00000333244	T	0.02709	4.19	2.69	1.75	0.24633	.	.	.	.	.	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.46512	0.879	B	0.39562	0.303	T	0.49952	-0.8884	9	0.56958	D	0.05	.	8.7377	0.34539	0.0:0.0:0.5043:0.4957	.	535	Q8IVF2	AHNK2_HUMAN	V	535	ENSP00000353114:A535V	ENSP00000353114:A535V	A	-	2	0	AHNAK2	104491229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.284000	0.18864	0.410000	0.25675	0.561000	0.74099	GCC		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		47	54	0	0	0	1	0	47	54				
AGR2	10551	broad.mit.edu	37	7	16839397	16839397	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:16839397C>T	ENST00000419304.2	-	5	453	c.301G>A	c.(301-303)Gca>Aca	p.A101T	AGR2_ENST00000419572.2_Missense_Mutation_p.A121T|AGR2_ENST00000401412.1_Missense_Mutation_p.A101T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	101					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AACTGCTCTGCCAATTTCTGG	0.318																																						ENST00000419304.2																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(301-303)Gca>Aca		anterior gradient 2							160.0	162.0	161.0					7																	16839397		2203	4300	6503	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16839397C>T	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.301G>A	7.37:g.16839397C>T	ENSP00000391490:p.Ala101Thr					AGR2_ENST00000419572.2_Missense_Mutation_p.A121T|AGR2_ENST00000401412.1_Missense_Mutation_p.A101T	p.A101T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	5	453	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		101						Missense_Mutation	SNP	ENST00000419304.2	37	c.301G>A	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775322	0.90108	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.37	5.37	0.77165	Thioredoxin-like fold (2);	0.117022	0.56097	D	0.000027	T	0.71693	0.3370	M	0.91300	3.195	0.52501	D	0.99995	D	0.62365	0.991	D	0.65010	0.931	T	0.79105	-0.1940	10	0.87932	D	0	-17.2625	18.7411	0.91773	0.0:1.0:0.0:0.0	.	101	O95994	AGR2_HUMAN	T	101;31;121;101;101	ENSP00000391490:A101T;ENSP00000388342:A121T;ENSP00000386025:A101T;ENSP00000411969:A101T	ENSP00000386025:A101T	A	-	1	0	AGR2	16805922	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.727000	0.61993	2.523000	0.85059	0.555000	0.69702	GCA		0.318	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		15	35	0	0	0	1	0	15	35				
SMPDL3B	27293	broad.mit.edu	37	1	28285226	28285226	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:28285226T>C	ENST00000373894.3	+	8	1436	c.1245T>C	c.(1243-1245)tgT>tgC	p.C415C	XKR8_ENST00000373884.5_5'Flank|SMPDL3B_ENST00000549094.1_Silent_p.C367C|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	415					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGCACGTGTGTGCCATGCGCC	0.627																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1243-1245)tgT>tgC		sphingomyelin phosphodiesterase, acid-like 3B							101.0	86.0	91.0					1																	28285226		2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285226T>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1245T>C	1.37:g.28285226T>C						SMPDL3B_ENST00000549094.1_Silent_p.C367C|RP11-460I13.2_ENST00000448015.1_RNA	p.C415C	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1436	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	415					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1245T>C	CCDS30655.1																																																																																				0.627	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		30	41	0	0	0	1	0	30	41				
DNASE2	1777	broad.mit.edu	37	19	12985242	12985242	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12985242G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.S1424N	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGCCGGCGCAGCAGCTCTGGC	0.706																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(4270-4272)aGc>aAc		microtubule associated serine/threonine kinase 1							15.0	19.0	18.0					19																	12985242		2165	4243	6408	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12985242G>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985242G>A							p.S1424N	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	4310	+			1424					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.4271G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.249705	0.39797	.	.	ENSG00000105613	ENST00000251472	T	0.66638	-0.22	5.35	5.35	0.76521	.	0.423339	0.22301	N	0.061880	T	0.48624	0.1510	N	0.19112	0.55	0.32682	N	0.515352	P	0.37466	0.596	B	0.29176	0.099	T	0.61783	-0.6992	10	0.37606	T	0.19	-18.4067	14.5894	0.68354	0.0:0.0:1.0:0.0	.	1424	Q9Y2H9	MAST1_HUMAN	N	1424	ENSP00000251472:S1424N	ENSP00000251472:S1424N	S	+	2	0	MAST1	12846242	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.463000	0.53050	2.516000	0.84829	0.552000	0.68991	AGC		0.706	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			19	21	0	0	0	1	0	19	21				
DSCAM	1826	broad.mit.edu	37	21	41424022	41424022	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:41424022G>A	ENST00000400454.1	-	30	5525	c.5048C>T	c.(5047-5049)aCg>aTg	p.T1683M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1683					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAACAGAACCGTGGAGCGATC	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5047-5049)aCg>aTg		Down syndrome cell adhesion molecule							82.0	82.0	82.0					21																	41424022		2041	4194	6235	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41424022G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5048C>T	21.37:g.41424022G>A	ENSP00000383303:p.Thr1683Met						p.T1683M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			30	5525	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1683					O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5048C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654113	0.88056	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65549	-0.16;-0.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	L	0.32530	0.975	0.52501	D	0.999957	D	0.89917	1.0	D	0.64410	0.925	T	0.73414	-0.3990	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	1683	O60469	DSCAM_HUMAN	M	1683;1435	ENSP00000383303:T1683M;ENSP00000385342:T1435M	ENSP00000383303:T1683M	T	-	2	0	DSCAM	40345892	1.000000	0.71417	0.961000	0.40146	0.874000	0.50279	9.357000	0.97099	2.748000	0.94277	0.655000	0.94253	ACG		0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	21	0	0	0	1	0	9	21				
SCG2	7857	broad.mit.edu	37	2	224463599	224463599	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224463599G>T	ENST00000305409.2	-	2	634	c.402C>A	c.(400-402)ccC>ccA	p.P134P		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAAGGCATAGGGCTTATTTT	0.423																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(400-402)ccC>ccA		secretogranin II							171.0	170.0	170.0					2																	224463599		2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463599G>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.402C>A	2.37:g.224463599G>T							p.P134P	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	634	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	134					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.402C>A	CCDS2457.1																																																																																				0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		6	151	1	0	0.0293803	1	0.0295506	6	151				
MGA	23269	broad.mit.edu	37	15	42003160	42003160	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:42003160G>A	ENST00000570161.1	+	7	2697	c.2697G>A	c.(2695-2697)aaG>aaA	p.K899K	MGA_ENST00000545763.1_Silent_p.K899K|MGA_ENST00000389936.4_Silent_p.K899K|MGA_ENST00000566586.1_Silent_p.K899K|MGA_ENST00000219905.7_Silent_p.K899K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAAGGCAAAGTCTCAAAACA	0.393																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2695-2697)aaG>aaA		MGA, MAX dimerization protein							145.0	143.0	143.0					15																	42003160		1851	4093	5944	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003160G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2697G>A	15.37:g.42003160G>A						MGA_ENST00000566586.1_Silent_p.K899K|MGA_ENST00000570161.1_Silent_p.K899K|MGA_ENST00000389936.4_Silent_p.K899K|MGA_ENST00000545763.1_Silent_p.K899K	p.K899K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2878	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	899					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.2697G>A	CCDS55959.1																																																																																				0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		40	63	0	0	0	1	0	40	63				
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100851701C>T	ENST00000442697.2	-	2	365	c.211G>A	c.(211-213)Gat>Aat	p.D71N	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)Gat>Aat		DnaJ (Hsp40) homolog, subfamily B, member 14							271.0	240.0	250.0					4																	100851701		2203	4300	6503	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100851701C>T	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.211G>A	4.37:g.100851701C>T	ENSP00000404381:p.Asp71Asn					DNAJB14_ENST00000471738.1_5'UTR	p.D71N	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	2	365	-			71					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.211G>A	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824454	0.32237	.	.	ENSG00000164031	ENST00000442697	T	0.63417	-0.04	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.47801	0.1465	N	0.25647	0.755	0.20926	N	0.99982	B	0.25105	0.118	B	0.16289	0.015	T	0.18650	-1.0330	10	0.09338	T	0.73	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	N	71	ENSP00000404381:D71N	ENSP00000404381:D71N	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		0.428	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		36	77	0	0	0	1	0	36	77				
SHD	56961	broad.mit.edu	37	19	4288303	4288303	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4288303C>T	ENST00000543264.2	+	5	2243	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	260	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGAAGGCAGCTACCTAG	0.577																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(778-780)ggC>ggT		Src homology 2 domain containing transforming protein D							95.0	80.0	85.0					19																	4288303		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4288303C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.780C>T	19.37:g.4288303C>T						SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	p.G260G	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2243	+			260			SH2.		Q96NC2	Silent	SNP	ENST00000543264.2	37	c.780C>T	CCDS12125.1																																																																																				0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		12	29	0	0	0	1	0	12	29				
SLFN13	146857	broad.mit.edu	37	17	33768113	33768113	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:33768113C>T	ENST00000285013.6	-	6	2470	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	SLFN13_ENST00000534689.1_Missense_Mutation_p.R414H|SLFN13_ENST00000360502.2_Missense_Mutation_p.R414H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R732H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R732H|SLFN13_ENST00000533791.1_Missense_Mutation_p.R732H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	732						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTGCATTGCGAACTACTCT	0.443																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2194-2196)cGc>cAc		schlafen family member 13							140.0	150.0	147.0					17																	33768113		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33768113C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2195G>A	17.37:g.33768113C>T	ENSP00000285013:p.Arg732His					SLFN13_ENST00000533791.1_Missense_Mutation_p.R732H|SLFN13_ENST00000534689.1_Missense_Mutation_p.R414H|SLFN13_ENST00000526861.1_Missense_Mutation_p.R732H|SLFN13_ENST00000542635.1_Missense_Mutation_p.R732H|SLFN13_ENST00000360502.2_Missense_Mutation_p.R414H	p.R732H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2470	-			732					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2195G>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.168588	0.38315	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71	3.41	1.32	0.21799	.	0.000000	0.48767	D	0.000166	D	0.96800	0.8955	L	0.52573	1.65	0.09310	N	1	D;D	0.76494	0.999;0.98	D;P	0.67231	0.95;0.735	D	0.90647	0.4579	10	0.30854	T	0.27	.	4.1677	0.10315	0.0:0.6168:0.2452:0.138	.	414;732	Q68D06-2;Q68D06	.;SLN13_HUMAN	H	732;414;732;732;414	ENSP00000285013:R732H;ENSP00000353692:R414H;ENSP00000434439:R732H;ENSP00000444016:R732H;ENSP00000435442:R414H	ENSP00000285013:R732H	R	-	2	0	SLFN13	30792226	0.018000	0.18449	0.388000	0.26195	0.157000	0.22087	0.769000	0.26604	0.732000	0.32470	0.407000	0.27541	CGC		0.443	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		49	102	0	0	0	1	0	49	102				
ERRFI1	54206	broad.mit.edu	37	1	8074217	8074217	+	Missense_Mutation	SNP	G	G	A	rs372669618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:8074217G>A	ENST00000377482.5	-	4	665	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	148					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTAGAACCCCGTTCACAAAGA	0.498																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(442-444)Cgg>Tgg		ERBB receptor feedback inhibitor 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	96.0	94.0		442	2.1	0.0	1		94	0,8600		0,0,4300	no	missense	ERRFI1	NM_018948.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	148/463	8074217	1,13005	2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074217G>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.442C>T	1.37:g.8074217G>A	ENSP00000366702:p.Arg148Trp					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.R148W	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	665	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	148					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.442C>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637499	0.47049	2.27E-4	0.0	ENSG00000116285	ENST00000377482	T	0.75704	-0.96	5.18	2.07	0.26955	.	0.064547	0.64402	D	0.000010	D	0.82737	0.5102	M	0.76002	2.32	0.24936	N	0.991881	D	0.76494	0.999	D	0.66979	0.948	T	0.74822	-0.3534	10	0.42905	T	0.14	-2.8137	12.1129	0.53850	0.0:0.1141:0.648:0.2379	.	148	Q9UJM3	ERRFI_HUMAN	W	148	ENSP00000366702:R148W	ENSP00000366702:R148W	R	-	1	2	ERRFI1	7996804	0.997000	0.39634	0.001000	0.08648	0.068000	0.16541	2.941000	0.49011	0.196000	0.20367	-0.808000	0.03180	CGG		0.498	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		23	45	0	0	0	1	0	23	45				
C1orf177	163747	broad.mit.edu	37	1	55277797	55277797	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:55277797G>A	ENST00000371273.3	+	6	712	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	C1orf177_ENST00000358193.3_Missense_Mutation_p.G233S	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	233										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CGGCACCCGCGGCCCCTATGA	0.572																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(697-699)Ggc>Agc		chromosome 1 open reading frame 177							89.0	83.0	85.0					1																	55277797		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55277797G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.697G>A	1.37:g.55277797G>A	ENSP00000360320:p.Gly233Ser					C1orf177_ENST00000371273.3_Missense_Mutation_p.G233S	p.G233S	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			6	751	+			233					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.697G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230451	0.39399	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23552	1.9;1.9	4.91	3.99	0.46301	.	0.423693	0.21357	N	0.075863	T	0.43634	0.1256	M	0.70275	2.135	0.09310	N	0.999997	D;D	0.76494	0.999;0.999	P;P	0.62382	0.838;0.901	T	0.26573	-1.0099	10	0.66056	D	0.02	0.2737	8.8629	0.35269	0.1041:0.0:0.8959:0.0	.	233;233	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	S	233	ENSP00000350924:G233S;ENSP00000360320:G233S	ENSP00000350924:G233S	G	+	1	0	C1orf177	55050385	0.203000	0.23435	0.017000	0.16124	0.043000	0.13939	1.498000	0.35660	1.057000	0.40506	0.462000	0.41574	GGC		0.572	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		9	32	0	0	0	1	0	9	32				
RPUSD1	113000	broad.mit.edu	37	16	836869	836869	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:836869C>T	ENST00000561734.1	-	4	712	c.469G>A	c.(469-471)Gca>Aca	p.A157T	RPUSD1_ENST00000567114.1_Missense_Mutation_p.A28T|RPUSD1_ENST00000565809.1_Silent_p.T122T|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A157T			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	157					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A157T(1)		endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGATCGCCTGCGTACAGCCCG	0.607																																						ENST00000561734.1																			1	Substitution - Missense(1)	p.A157T(1)	endometrium(1)	endometrium(3)|lung(2)|skin(2)	7						c.(469-471)Gca>Aca		RNA pseudouridylate synthase domain containing 1							164.0	149.0	154.0					16																	836869		2200	4300	6500	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836869C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.469G>A	16.37:g.836869C>T	ENSP00000455026:p.Ala157Thr					RPUSD1_ENST00000567114.1_Missense_Mutation_p.A28T|RPUSD1_ENST00000565809.1_Silent_p.T122T|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A157T	p.A157T			Q9UJJ7	RUSD1_HUMAN			4	712	-		Hepatocellular(780;0.00335)	157					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.469G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	4.510	0.094529	0.08632	.	.	ENSG00000007376	ENST00000007264	T	0.14266	2.52	4.36	2.34	0.29019	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.944832	0.08896	N	0.877925	T	0.08891	0.0220	L	0.28649	0.875	0.09310	N	1	B	0.32350	0.366	B	0.27887	0.084	T	0.38845	-0.9642	10	0.18276	T	0.48	-3.4072	6.8051	0.23772	0.3125:0.6007:0.0:0.0869	.	157	Q9UJJ7	RUSD1_HUMAN	T	157	ENSP00000007264:A157T	ENSP00000007264:A157T	A	-	1	0	RPUSD1	776870	0.480000	0.25933	0.015000	0.15790	0.295000	0.27426	2.095000	0.41729	0.440000	0.26502	0.549000	0.68633	GCA		0.607	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		18	29	0	0	0	1	0	18	29				
MYH7	4625	broad.mit.edu	37	14	23888705	23888705	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23888705C>T	ENST00000355349.3	-	28	4002	c.3840G>A	c.(3838-3840)ttG>ttA	p.L1280L	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1280					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCGGTTTGCAACTTGGCCC	0.602																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3838-3840)ttG>ttA		myosin, heavy chain 7, cardiac muscle, beta							103.0	92.0	96.0					14																	23888705		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888705C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3840G>A	14.37:g.23888705C>T							p.L1280L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	4002	-	all_cancers(95;2.54e-05)		1280					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.3840G>A	CCDS9601.1																																																																																				0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	73	0	0	0	1	0	28	73				
IL17RA	23765	broad.mit.edu	37	22	17583129	17583129	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17583129G>A	ENST00000319363.6	+	7	832	c.699G>A	c.(697-699)ctG>ctA	p.L233L		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	233					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCAGATCCTGCTGACCAGTT	0.552																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(697-699)ctG>ctA		interleukin 17 receptor A							199.0	180.0	187.0					22																	17583129		2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583129G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.699G>A	22.37:g.17583129G>A							p.L233L	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	7	832	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	233					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.699G>A	CCDS13739.1																																																																																				0.552	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		48	57	0	0	0	1	0	48	57				
AGBL1	123624	broad.mit.edu	37	15	86697775	86697775	+	Missense_Mutation	SNP	G	G	A	rs182802715	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:86697775G>A	ENST00000441037.2	+	3	334	c.239G>A	c.(238-240)cGt>cAt	p.R80H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					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)			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						TGGGCTCTGCGTGTGTTTGCC	0.537													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.0					ENST00000441037.2																			0				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						c.(238-240)cGt>cAt		ATP/GTP binding protein-like 1							99.0	100.0	99.0					15																	86697775		2029	4193	6222	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697775G>A	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.239G>A	15.37:g.86697775G>A	ENSP00000413001:p.Arg80His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R80H	p.R80H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			3	334	+			80					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.239G>A	CCDS58398.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	22.0	4.227315	0.79576	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.45668	0.89	5.4	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.43299	0.1241	M	0.78637	2.42	0.80722	D	1	D	0.58970	0.984	P	0.51945	0.685	T	0.53683	-0.8404	9	0.87932	D	0	-10.842	6.8999	0.24277	0.1495:0.0:0.8505:0.0	.	80	Q96MI9	CBPC4_HUMAN	H	109;80	ENSP00000397173:R80H	ENSP00000397173:R80H	R	+	2	0	AGBL1	84498779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.438000	0.44837	2.683000	0.91414	0.650000	0.86243	CGT		0.537	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		14	13	0	0	0	1	0	14	13				
ANK3	288	broad.mit.edu	37	10	61829572	61829572	+	Silent	SNP	G	G	A	rs141012790		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:61829572G>A	ENST00000280772.2	-	37	11258	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3689					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACACTCTCCGCTGGTCGGGA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16183	0.0		0.001	False		,,,				2504	0.0					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11065-11067)agC>agT		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,	2,4404	4.2+/-10.8	0,2,2201	124.0	132.0	129.0		,,,11067	3.5	1.0	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,,,3689/4378	61829572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829572G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11067C>T	10.37:g.61829572G>A						ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.S3689S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11258	-			3689					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11067C>T	CCDS7258.1																																																																																				0.532	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	79	0	0	0	1	0	4	79				
DNAJA1	3301	broad.mit.edu	37	9	33036611	33036611	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:33036611C>T	ENST00000330899.4	+	7	981	c.798C>T	c.(796-798)ctC>ctT	p.L266L	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.L109L	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	266					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		ACATACAGCTCGTTGAAGCAC	0.408																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(796-798)ctC>ctT		DnaJ (Hsp40) homolog, subfamily A, member 1							90.0	82.0	85.0					9																	33036611		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33036611C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.798C>T	9.37:g.33036611C>T						DNAJA1_ENST00000544625.1_Silent_p.L109L|DNAJA1_ENST00000495015.1_3'UTR	p.L266L	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	7	981	+			266					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.798C>T	CCDS6533.1																																																																																				0.408	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			9	25	0	0	0	1	0	9	25				
RBFOX2	23543	broad.mit.edu	37	22	36142522	36142522	+	Missense_Mutation	SNP	G	G	A	rs368460878		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36142522G>A	ENST00000405409.2	-	10	1342	c.974C>T	c.(973-975)aCg>aTg	p.T325M	RBFOX2_ENST00000262829.7_Silent_p.D319D|RBFOX2_ENST00000449924.2_Silent_p.D341D|RBFOX2_ENST00000359369.4_Missense_Mutation_p.T328M|RBFOX2_ENST00000438146.2_Silent_p.D412D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.T328M|RBFOX2_ENST00000397303.2_Silent_p.D318D|RBFOX2_ENST00000416721.2_Silent_p.D337D	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	0	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GTACATACCCGTCACTGTAag	0.547																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(973-975)aCg>aTg		RNA binding protein, fox-1 homolog (C. elegans) 2		G	,,MET/THR,,,MET/THR	0,4406		0,0,2203	72.0	69.0	70.0		1023,1011,983,1236,1233,974	0.8	1.0	22		70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,missense,coding-synonymous,coding-synonymous,missense	RBFOX2	NM_001031695.2,NM_001082576.1,NM_001082577.1,NM_001082578.1,NM_001082579.1,NM_014309.2	,,81,,,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,	341/381,337/377,328/371,412/452,411/451,325/368	36142522	2,13004	2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36142522G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000405409.2:c.974C>T	22.37:g.36142522G>A	ENSP00000384944:p.Thr325Met					RBFOX2_ENST00000438146.2_Silent_p.D412D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.T328M|RBFOX2_ENST00000397303.2_Silent_p.D318D|RBFOX2_ENST00000449924.2_Silent_p.D341D|RBFOX2_ENST00000359369.4_Missense_Mutation_p.T328M|RBFOX2_ENST00000416721.2_Silent_p.D337D|RBFOX2_ENST00000262829.7_Silent_p.D319D	p.T325M	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			10	1342	-			0			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000405409.2	37	c.974C>T	CCDS13921.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148138	0.37923	0.0	2.33E-4	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000359369	T;T;T	0.37915	1.52;1.37;1.17	5.15	0.825	0.18824	.	.	.	.	.	T	0.26774	0.0655	.	.	.	0.80722	D	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.06661	-1.0814	8	0.59425	D	0.04	.	7.8939	0.29695	0.5762:0.0:0.4238:0.0	.	328;325;328	B0QYY4;O43251-9;O43251-4	.;.;.	M	325;358;328;328	ENSP00000384944:T325M;ENSP00000407855:T328M;ENSP00000352328:T328M	ENSP00000342831:T358M	T	-	2	0	RBFOX2	34472468	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	0.604000	0.24164	0.083000	0.17047	0.561000	0.74099	ACG		0.547	RBFOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318976.3			28	40	0	0	0	1	0	28	40				
F5	2153	broad.mit.edu	37	1	169511013	169511013	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:169511013T>C	ENST00000367797.3	-	13	3516	c.3315A>G	c.(3313-3315)tcA>tcG	p.S1105S	F5_ENST00000367796.3_Silent_p.S1110S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1105	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGTGTCATTTGAGGAATTCT	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3328-3330)tcA>tcG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						128.0	124.0	125.0					1																	169511013		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511013T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3315A>G	1.37:g.169511013T>C						F5_ENST00000367797.3_Silent_p.S1105S	p.S1110S			P12259	FA5_HUMAN			13	3531	-	all_hematologic(923;0.208)		1105			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3330A>G	CCDS1281.1																																																																																				0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	79	0	0	0	1	0	4	79				
SLC34A2	10568	broad.mit.edu	37	4	25665888	25665888	+	Silent	SNP	C	C	T	rs374518970		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25665888C>T	ENST00000382051.3	+	4	365	c.315C>T	c.(313-315)ctC>ctT	p.L105L	SLC34A2_ENST00000504570.1_Silent_p.L104L|SLC34A2_ENST00000503434.1_Silent_p.L104L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	105					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTTTACTTCTCGGATTTCTCT	0.507			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(313-315)ctC>ctT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2		C	,,	0,4406		0,0,2203	152.0	147.0	148.0		312,312,315	3.8	0.9	4		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	104/690,104/690,105/691	25665888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25665888C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.315C>T	4.37:g.25665888C>T						SLC34A2_ENST00000503434.1_Silent_p.L104L|SLC34A2_ENST00000504570.1_Silent_p.L104L	p.L105L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			4	365	+		Breast(46;0.0503)	105					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.315C>T	CCDS3435.1																																																																																				0.507	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		32	44	0	0	0	1	0	32	44				
LRIG1	26018	broad.mit.edu	37	3	66431254	66431254	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:66431254G>A	ENST00000273261.3	-	18	3326	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.C911C|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	934					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCGGTGTTGCAGTCACTGC	0.607																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2731-2733)tgC>tgT		leucine-rich repeats and immunoglobulin-like domains 1							60.0	62.0	62.0					3																	66431254		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66431254G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2802C>T	3.37:g.66431254G>A						LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Silent_p.C934C	p.C911C			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3336	-		Lung NSC(201;0.0101)	934	M -> I (in Ref. 2; BAB40659).				Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.2733C>T	CCDS33783.1																																																																																				0.607	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		14	23	0	0	0	1	0	14	23				
AKAP10	11216	broad.mit.edu	37	17	19827781	19827781	+	Missense_Mutation	SNP	G	G	A	rs142084873		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:19827781G>A	ENST00000225737.6	-	11	1848	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	AKAP10_ENST00000395536.3_Missense_Mutation_p.A506V	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	564					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CACAATTATCGCTTCATCAAA	0.353																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1690-1692)gCg>gTg		A kinase (PRKA) anchor protein 10		G	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	68.0	70.0	69.0		1691	4.3	1.0	17	dbSNP_134	69	0,8600		0,0,4300	yes	missense	AKAP10	NM_007202.2	64	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	564/663	19827781	4,13002	2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19827781G>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1691C>T	17.37:g.19827781G>A	ENSP00000225737:p.Ala564Val					AKAP10_ENST00000395536.3_Missense_Mutation_p.A506V	p.A564V	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			11	1848	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		564					B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.1691C>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351133	0.82132	9.08E-4	0.0	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.32988	1.43	5.28	4.32	0.51571	.	0.048977	0.85682	N	0.000000	T	0.44993	0.1320	M	0.68317	2.08	0.49915	D	0.999839	B;B;D	0.76494	0.046;0.445;0.999	B;B;P	0.58331	0.008;0.03;0.837	T	0.35025	-0.9805	10	0.18276	T	0.48	-1.6037	12.8743	0.57982	0.0784:0.0:0.9216:0.0	.	506;506;564	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	V	564;506	ENSP00000225737:A564V	ENSP00000225737:A564V	A	-	2	0	AKAP10	19768373	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.609000	0.67661	1.232000	0.43678	-0.218000	0.12543	GCG		0.353	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		27	25	0	0	0	1	0	27	25				
SSPO	23145	broad.mit.edu	37	7	149485513	149485513	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149485513G>A	ENST00000378016.2	+	0	3919							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGTGGTGGCCTGTGTGGA	0.657																																						ENST00000378016.2																			0													SCO-spondin							36.0	45.0	42.0					7																	149485513		2116	4211	6327			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485513G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485513G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3919	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	10	0	0	0	1	0	6	10				
MKI67	4288	broad.mit.edu	37	10	129899719	129899719	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:129899719C>T	ENST00000368654.3	-	14	9883	c.9508G>A	c.(9508-9510)Gca>Aca	p.A3170T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2810T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3170					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTCCTCTGCCACCTTAGGC	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9508-9510)Gca>Aca		marker of proliferation Ki-67							177.0	160.0	165.0					10																	129899719		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899719C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9508G>A	10.37:g.129899719C>T	ENSP00000357643:p.Ala3170Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A2810T	p.A3170T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	9883	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3170					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9508G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019760	0.54576	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04862	3.57;3.54	2.99	-0.0309	0.13912	.	1.062800	0.07398	N	0.890217	T	0.12390	0.0301	L	0.32530	0.975	0.09310	N	1	P;D	0.89917	0.713;1.0	B;D	0.79108	0.33;0.992	T	0.37641	-0.9697	10	0.30078	T	0.28	.	5.6761	0.17749	0.0:0.6096:0.0:0.3904	.	2810;3170	P46013-2;P46013	.;KI67_HUMAN	T	3170;2810;3169	ENSP00000357643:A3170T;ENSP00000357642:A2810T	ENSP00000357642:A2810T	A	-	1	0	MKI67	129789709	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.471000	0.22100	0.001000	0.14605	0.563000	0.77884	GCA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		52	65	0	0	0	1	0	52	65				
TRPM2	7226	broad.mit.edu	37	21	45773734	45773734	+	Missense_Mutation	SNP	G	G	A	rs369318694		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:45773734G>A	ENST00000397928.1	+	1	596	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	TRPM2_ENST00000300482.5_Missense_Mutation_p.G51S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G51S|TRPM2_ENST00000397932.2_Missense_Mutation_p.G51S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	51					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCCCTTCGGCAACAATGA	0.607																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(151-153)Ggc>Agc		transient receptor potential cation channel, subfamily M, member 2		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	42.0	34.0	37.0		151	0.4	0.0	21		37	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	51/1504	45773734	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45773734G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.151G>A	21.37:g.45773734G>A	ENSP00000381023:p.Gly51Ser					TRPM2_ENST00000397932.2_Missense_Mutation_p.G51S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G51S|TRPM2_ENST00000300482.5_Missense_Mutation_p.G51S	p.G51S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			1	596	+			51					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.151G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.266988	0.05754	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.50813	0.84;1.01;0.84;0.86;0.73	4.01	0.401	0.16338	.	0.853340	0.10017	N	0.726481	T	0.23649	0.0572	N	0.08118	0	0.19945	N	0.999948	B;B	0.16166	0.016;0.004	B;B	0.08055	0.003;0.001	T	0.20207	-1.0282	10	0.24483	T	0.36	-14.3202	6.4771	0.22043	0.4273:0.0:0.5727:0.0	.	51;51	E9PGK7;O94759	.;TRPM2_HUMAN	S	51	ENSP00000300482:G51S;ENSP00000393982:G51S;ENSP00000381023:G51S;ENSP00000300481:G51S;ENSP00000381026:G51S	ENSP00000300481:G51S	G	+	1	0	TRPM2	44598162	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.262000	0.08682	-0.308000	0.08792	0.561000	0.74099	GGC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	4	0	0	0	1	0	5	4				
MYH8	4626	broad.mit.edu	37	17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4267-4269)cGg>cAg		myosin, heavy chain 8, skeletal muscle, perinatal							98.0	91.0	93.0					17																	10300214		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300214C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4268G>A	17.37:g.10300214C>T	ENSP00000384330:p.Arg1423Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1423Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4362	-			1423					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4268G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024275	0.93462	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83250	-1.7	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39759	U	0.001266	D	0.93612	0.7960	M	0.93720	3.45	0.50171	D	0.999852	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.66056	D	0.02	.	18.8216	0.92099	0.0:1.0:0.0:0.0	.	1423	P13535	MYH8_HUMAN	Q	1423	ENSP00000384330:R1423Q	ENSP00000252173:R1423Q	R	-	2	0	MYH8	10240939	0.997000	0.39634	0.998000	0.56505	0.697000	0.40408	7.525000	0.81892	2.687000	0.91594	0.650000	0.86243	CGG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	73	0	0	0	1	0	4	73				
KIF13A	63971	broad.mit.edu	37	6	17856298	17856298	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:17856298C>A	ENST00000259711.6	-	5	381	c.276G>T	c.(274-276)caG>caT	p.Q92H	KIF13A_ENST00000378816.5_Missense_Mutation_p.Q92H|KIF13A_ENST00000378843.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378814.5_Missense_Mutation_p.Q92H	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	92	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATTATACCCCTGAAAGGCTT	0.363																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(274-276)caG>caT		kinesin family member 13A							78.0	74.0	75.0					6																	17856298		1823	4088	5911	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17856298C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.276G>T	6.37:g.17856298C>A	ENSP00000259711:p.Gln92His					KIF13A_ENST00000378843.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q92H|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q92H|KIF13A_ENST00000259711.6_Missense_Mutation_p.Q92H	p.Q92H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		5	275	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	92			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.276G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309547	0.81247	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.87	4.11	0.48088	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77691	0.4168	L	0.58810	1.83	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.994;0.998	D;P;D;D	0.70227	0.956;0.904;0.968;0.935	T	0.80544	-0.1335	10	0.66056	D	0.02	.	13.2851	0.60239	0.0:0.8714:0.0:0.1286	.	92;92;92;92	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	H	92	ENSP00000368091:Q92H;ENSP00000259711:Q92H;ENSP00000368103:Q92H;ENSP00000368120:Q92H;ENSP00000368093:Q92H	ENSP00000259711:Q92H	Q	-	3	2	KIF13A	17964277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.865000	0.39479	0.956000	0.37904	-0.123000	0.14984	CAG		0.363	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			9	29	1	0	0.00448238	1	0.00453641	9	29				
LYZL2	119180	broad.mit.edu	37	10	30915180	30915180	+	Missense_Mutation	SNP	G	G	A	rs144040075		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:30915180G>A	ENST00000375318.2	-	3	346	c.290C>T	c.(289-291)gCg>gTg	p.A97V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	51					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTCATAATACGCCATGCAGAT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20206	0.001		0.0	False		,,,				2504	0.0					ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(289-291)gCg>gTg		lysozyme-like 2		G	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	113.0	91.0	98.0		290	2.3	0.8	10	dbSNP_134	98	0,8600		0,0,4300	no	missense	LYZL2	NM_183058.2	64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	97/195	30915180	6,13000	2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915180G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.290C>T	10.37:g.30915180G>A	ENSP00000364467:p.Ala97Val						p.A97V	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	346	-		Prostate(175;0.151)	51					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.290C>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030170	0.19512	0.001362	0.0	ENSG00000151033	ENST00000375318	T	0.78816	-1.21	2.27	2.27	0.28462	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.62016	1.91	0.34677	D	0.724306	D	0.63880	0.993	P	0.50659	0.647	T	0.82750	-0.0303	10	0.59425	D	0.04	-17.7678	8.1709	0.31254	0.0:0.0:1.0:0.0	.	97	Q7Z4W2-2	.	V	97	ENSP00000364467:A97V	ENSP00000364467:A97V	A	-	2	0	LYZL2	30955186	0.999000	0.42202	0.815000	0.32552	0.280000	0.26924	4.614000	0.61183	1.580000	0.49851	0.306000	0.20318	GCG		0.552	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		10	32	0	0	0	1	0	10	32				
TRRAP	8295	broad.mit.edu	37	7	98558974	98558974	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:98558974C>A	ENST00000359863.4	+	45	6768	c.6559C>A	c.(6559-6561)Ctc>Atc	p.L2187I	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2168I|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2169I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2187	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCAGCCATCCTCAGTAGCTT	0.552																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(6559-6561)Ctc>Atc		transformation/transcription domain-associated protein							137.0	130.0	132.0					7																	98558974		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98558974C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6559C>A	7.37:g.98558974C>A	ENSP00000352925:p.Leu2187Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.L2169I|TRRAP_ENST00000446306.3_Missense_Mutation_p.L2168I	p.L2187I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		45	6768	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2187			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.6559C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540264	0.65085	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.66280	-0.2;-0.2	5.28	5.28	0.74379	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	L	0.49350	1.555	0.80722	D	1	P;B;P	0.45474	0.859;0.257;0.618	P;B;B	0.46253	0.509;0.077;0.222	T	0.63166	-0.6698	10	0.35671	T	0.21	.	19.2552	0.93943	0.0:1.0:0.0:0.0	.	2169;1908;2187	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	2187;2169;2167	ENSP00000352925:L2187I;ENSP00000347733:L2169I	ENSP00000347733:L2169I	L	+	1	0	TRRAP	98396910	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.819000	0.62664	2.615000	0.88500	0.655000	0.94253	CTC		0.552	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		37	41	1	0	2.32173e-10	1	2.48086e-10	37	41				
RARB	5915	broad.mit.edu	37	3	25470290	25470290	+	Intron	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:25470290C>T	ENST00000404969.1	+	2	178				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Missense_Mutation_p.P23L			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACTGCGAGTCCGTCTTCCTGC	0.483																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(67-69)cCg>cTg		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						198.0	167.0	178.0					3																	25470290		2203	4300	6503	SO:0001627	intron_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25470290C>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32394C>T	3.37:g.25470290C>T						RARB_ENST00000437042.2_Intron|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Intron	p.P23L	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			1	489	+			0			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	15.27	2.784706	0.49997	.	.	ENSG00000077092	ENST00000330688	D	0.92249	-3.0	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90717	0.7087	L	0.54323	1.7	0.80722	D	1	B	0.27286	0.174	B	0.23018	0.043	D	0.87893	0.2685	10	0.62326	D	0.03	.	19.855	0.96755	0.0:1.0:0.0:0.0	.	23	F1D8S6	.	L	23	ENSP00000332296:P23L	ENSP00000332296:P23L	P	+	2	0	RARB	25445294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.953000	0.75995	2.691000	0.91804	0.561000	0.74099	CCG		0.483	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		40	66	0	0	0	1	0	40	66				
ASB1	51665	broad.mit.edu	37	2	239344591	239344591	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:239344591G>A	ENST00000264607.4	+	3	678	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	144					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGCACCATCGCAGCACCCCT	0.652																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(430-432)cGc>cAc		ankyrin repeat and SOCS box containing 1							36.0	34.0	34.0					2																	239344591		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344591G>A	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.431G>A	2.37:g.239344591G>A	ENSP00000264607:p.Arg144His					ASB1_ENST00000409297.1_Intron	p.R144H	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	678	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	144					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.431G>A	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478550	0.96291	.	.	ENSG00000065802	ENST00000264607	T	0.64803	-0.12	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.051976	0.64402	D	0.000001	T	0.74951	0.3784	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75476	-0.3304	10	0.59425	D	0.04	.	19.5867	0.95492	0.0:0.0:1.0:0.0	.	144	Q9Y576	ASB1_HUMAN	H	144	ENSP00000264607:R144H	ENSP00000264607:R144H	R	+	2	0	ASB1	239009330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.087000	0.76893	2.633000	0.89246	0.655000	0.94253	CGC		0.652	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		4	9	0	0	0	1	0	4	9				
KMT2A	4297	broad.mit.edu	37	11	118368689	118368689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118368689G>A	ENST00000389506.5	+	21	5694	c.5694G>A	c.(5692-5694)tgG>tgA	p.W1898*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.W1860*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.W1901*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1898					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)										AAAATGAGTGGACACATGTAA	0.403																																						ENST00000534358.1																			0											c.(5701-5703)tgG>tgA		lysine (K)-specific methyltransferase 2A							164.0	154.0	157.0					11																	118368689		2200	4296	6496	SO:0001587	stop_gained	4297							g.chr11:118368689G>A	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.5694G>A	11.37:g.118368689G>A	ENSP00000374157:p.Trp1898*					KMT2A_ENST00000389506.5_Nonsense_Mutation_p.W1898*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.W1860*	p.W1901*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					21	5726	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.5703G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150608	0.99640	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2111	0.86930	0.0:0.0:1.0:0.0	.	.	.	.	X	1901;1898;1860;808	.	ENSP00000346516:W1860X	W	+	3	0	MLL	117873899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.547000	0.85894	0.655000	0.94253	TGG		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	109	0	0	0	1	0	14	109				
TRAF3IP2	10758	broad.mit.edu	37	6	111880685	111880685	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:111880685G>A	ENST00000340026.6	-	10	2242	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.L540L|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000392556.4_Silent_p.L129L|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.L541L|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368735.1_Silent_p.L85L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	550	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGCAGCCGCAGCAGGATGTTT	0.552																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1621-1623)Ctg>Ttg		TRAF3 interacting protein 2							118.0	115.0	116.0					6																	111880685		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111880685G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1648C>T	6.37:g.111880685G>A						TRAF3IP2_ENST00000359831.4_Silent_p.L540L|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L550L|TRAF3IP2_ENST00000368735.1_Silent_p.L85L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000392556.4_Silent_p.L129L	p.L541L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	9	2099	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	550			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.1621C>T																																																																																					0.552	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			44	54	0	0	0	1	0	44	54				
CATSPERG	57828	broad.mit.edu	37	19	38860668	38860668	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:38860668C>T	ENST00000409235.3	+	27	3192	c.3077C>T	c.(3076-3078)gCc>gTc	p.A1026V	CATSPERG_ENST00000410018.1_Missense_Mutation_p.A986V|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1026					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGCATCTTTGCCCCTGAATTC	0.557																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3076-3078)gCc>gTc		catsper channel auxiliary subunit gamma							213.0	196.0	202.0					19																	38860668		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860668C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3077C>T	19.37:g.38860668C>T	ENSP00000386962:p.Ala1026Val					CATSPERG_ENST00000410018.1_Missense_Mutation_p.A986V|CATSPERG_ENST00000215069.4_3'UTR	p.A1026V	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			27	3192	+			1026					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3077C>T	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.880015	0.51801	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.25414	1.81;1.8	5.9	4.84	0.62591	.	0.978321	0.08349	N	0.959480	T	0.28433	0.0703	L	0.27053	0.805	0.80722	D	1	P;P	0.46142	0.873;0.873	P;P	0.47346	0.544;0.466	T	0.01212	-1.1417	10	0.52906	T	0.07	-16.265	12.8615	0.57915	0.0:0.8366:0.1634:0.0	.	1026;986	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	V	986;1026;1026	ENSP00000387057:A986V;ENSP00000386962:A1026V	ENSP00000386962:A1026V	A	+	2	0	CATSPERG	43552508	0.041000	0.20044	0.676000	0.29932	0.121000	0.20230	2.951000	0.49089	1.448000	0.47680	0.549000	0.68633	GCC		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		50	99	0	0	0	1	0	50	99				
ZNF230	7773	broad.mit.edu	37	19	44514886	44514886	+	Missense_Mutation	SNP	G	G	A	rs151068123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:44514886G>A	ENST00000429154.2	+	5	923	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGTGGGAAAGGCTTCAGATGT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22507	0.0		0.0	False		,,,				2504	0.0				GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(694-696)gGc>gAc		zinc finger protein 230		G	ASP/GLY	2,4404	4.2+/-10.8	0,2,2201	113.0	115.0	114.0		695	-5.3	0.0	19	dbSNP_134	114	0,8600		0,0,4300	no	missense	ZNF230	NM_006300.3	94	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	232/475	44514886	2,13004	2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514886G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.695G>A	19.37:g.44514886G>A	ENSP00000409318:p.Gly232Asp						p.G232D	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	923	+		Prostate(69;0.0352)	232					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.695G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886605	0.33348	4.54E-4	0.0	ENSG00000159882	ENST00000429154	T	0.18016	2.24	2.67	-5.34	0.02705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21145	0.0509	L	0.33710	1.025	0.21499	N	0.999661	D	0.57571	0.98	P	0.62184	0.899	T	0.19031	-1.0318	9	0.62326	D	0.03	.	7.5139	0.27590	0.0:0.2557:0.3547:0.3896	.	232	Q9UIE0	ZN230_HUMAN	D	232	ENSP00000409318:G232D	ENSP00000409318:G232D	G	+	2	0	ZNF230	49206726	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-2.740000	0.00799	-0.838000	0.04218	-1.977000	0.00459	GGC		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			33	54	0	0	0	1	0	33	54				
LOC81691	81691	broad.mit.edu	37	16	20833204	20833204	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:20833204C>T	ENST00000261377.6	+	6	805	c.596C>T	c.(595-597)aCg>aTg	p.T199M	AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.T199M|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T199M|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GAAATGAGAACGTTTCACTTT	0.388																																						ENST00000261377.6																			0											c.(595-597)aCg>aTg									114.0	107.0	109.0					16																	20833204		2201	4300	6501	SO:0001583	missense	0							g.chr16:20833204C>T																												ENST00000261377.6:c.596C>T	16.37:g.20833204C>T	ENSP00000261377:p.Thr199Met					AC004381.6_ENST00000564274.1_Missense_Mutation_p.T199M|AC004381.6_ENST00000348433.6_Missense_Mutation_p.T199M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000567297.1_3'UTR	p.T199M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					6	805	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.596C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475126	0.43942	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.31769	1.48;1.89	5.26	0.637	0.17735	.	0.221657	0.45606	D	0.000356	T	0.28134	0.0694	L	0.50333	1.59	0.30941	N	0.72582	D;B	0.57571	0.98;0.341	P;B	0.51170	0.661;0.119	T	0.26430	-1.0103	10	0.48119	T	0.1	-1.2813	0.955	0.01384	0.2977:0.3748:0.1306:0.1969	.	199;199	Q96IC2-2;Q96IC2	.;REXON_HUMAN	M	199	ENSP00000261378:T199M;ENSP00000261377:T199M	ENSP00000261377:T199M	T	+	2	0	AC004381.6	20740705	0.910000	0.30920	0.992000	0.48379	0.908000	0.53690	0.981000	0.29526	0.217000	0.20800	0.555000	0.69702	ACG		0.388	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			19	29	0	0	0	1	0	19	29				
PLXNA3	55558	broad.mit.edu	37	X	153694316	153694316	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153694316G>A	ENST00000369682.3	+	14	2746	c.2571G>A	c.(2569-2571)cgG>cgA	p.R857R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	857	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGCACCCGGGTCACCATCG	0.647																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2569-2571)cgG>cgA		plexin A3							59.0	53.0	55.0					X																	153694316		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694316G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2571G>A	X.37:g.153694316G>A							p.R857R	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			14	2746	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		857			IPT/TIG 1.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2571G>A	CCDS14752.1																																																																																				0.647	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		13	0	0	0	0	1	0	13	0				
FOLR1	2348	broad.mit.edu	37	11	71903288	71903288	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:71903288C>T	ENST00000393679.1	+	2	507	c.71C>T	c.(70-72)aCa>aTa	p.T24I	FOLR1_ENST00000393681.2_Missense_Mutation_p.T24I|FOLR1_ENST00000393676.3_Missense_Mutation_p.T24I|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.T24I			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	24					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GAGGCTCAGACAAGGATTGCA	0.557																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(70-72)aCa>aTa		folate receptor 1 (adult)							134.0	118.0	123.0					11																	71903288		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71903288C>T	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.71C>T	11.37:g.71903288C>T	ENSP00000377284:p.Thr24Ile					FOLR1_ENST00000312293.4_Missense_Mutation_p.T24I|FOLR1_ENST00000393676.3_Missense_Mutation_p.T24I|FOLR1_ENST00000393681.2_Missense_Mutation_p.T24I|RP11-807H22.7_ENST00000378140.3_RNA	p.T24I			P15328	FOLR1_HUMAN			2	507	+			24					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.71C>T	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	-	7.637	0.680158	0.14907	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	3.05	-1.81	0.07882	.	1.785790	0.03536	N	0.223113	T	0.47930	0.1472	N	0.08118	0	0.09310	N	1	B	0.27450	0.179	B	0.21360	0.034	T	0.22941	-1.0202	10	0.23302	T	0.38	-15.1439	1.1033	0.01688	0.3822:0.2956:0.1878:0.1344	.	24	P15328	FOLR1_HUMAN	I	24	ENSP00000308137:T24I;ENSP00000377286:T24I;ENSP00000377284:T24I;ENSP00000377281:T24I	ENSP00000308137:T24I	T	+	2	0	FOLR1	71580936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.284000	0.08422	-0.386000	0.07821	-0.188000	0.12872	ACA		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		26	35	0	0	0	1	0	26	35				
GGA2	23062	broad.mit.edu	37	16	23491977	23491977	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:23491977G>T	ENST00000309859.4	-	10	1077	c.995C>A	c.(994-996)cCt>cAt	p.P332H	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'Flank	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	332	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCTGGAGACAGGGATGTCTCC	0.502																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(994-996)cCt>cAt		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							87.0	78.0	81.0					16																	23491977		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491977G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.995C>A	16.37:g.23491977G>T	ENSP00000311962:p.Pro332His					GGA2_ENST00000567468.1_Intron	p.P332H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	10	1077	-			332			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.995C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867837	0.72065	.	.	ENSG00000103365	ENST00000309859	T	0.17213	2.29	4.55	4.55	0.56014	.	0.556302	0.15929	N	0.237778	T	0.20088	0.0483	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.11494	-1.0585	10	0.54805	T	0.06	-15.438	13.0089	0.58720	0.0:0.0:1.0:0.0	.	332	Q9UJY4	GGA2_HUMAN	H	332	ENSP00000311962:P332H	ENSP00000311962:P332H	P	-	2	0	GGA2	23399478	0.479000	0.25925	0.994000	0.49952	0.922000	0.55478	3.959000	0.56744	2.509000	0.84616	0.655000	0.94253	CCT		0.502	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			15	13	1	0	1.15088e-07	1	1.20771e-07	15	13				
VAC14	55697	broad.mit.edu	37	16	70815807	70815807	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:70815807A>G	ENST00000261776.5	-	8	1171	c.911T>C	c.(910-912)gTc>gCc	p.V304A		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	304					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGGCAAGACAGCAGTCAG	0.547																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(910-912)gTc>gCc		Vac14 homolog (S. cerevisiae)							59.0	56.0	57.0					16																	70815807		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815807A>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.911T>C	16.37:g.70815807A>G	ENSP00000261776:p.Val304Ala						p.V304A	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1171	-		Ovarian(137;0.0699)	304					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.911T>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819951	0.71028	.	.	ENSG00000103043	ENST00000261776	T	0.69435	-0.4	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.86268	2.805	0.80722	D	1	B	0.32653	0.379	B	0.34722	0.188	T	0.75181	-0.3408	10	0.54805	T	0.06	-40.8823	15.727	0.77770	1.0:0.0:0.0:0.0	.	304	Q08AM6	VAC14_HUMAN	A	304	ENSP00000261776:V304A	ENSP00000261776:V304A	V	-	2	0	VAC14	69373308	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.939000	0.92951	2.118000	0.64928	0.533000	0.62120	GTC		0.547	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		12	23	0	0	0	1	0	12	23				
AFM	173	broad.mit.edu	37	4	74364910	74364910	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:74364910G>T	ENST00000226355.3	+	11	1462	c.1369G>T	c.(1369-1371)Gct>Tct	p.A457S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	457	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGGTGACAGCTTTCACTAC	0.418																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1369-1371)Gct>Tct		afamin							163.0	141.0	149.0					4																	74364910		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74364910G>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1369G>T	4.37:g.74364910G>T	ENSP00000226355:p.Ala457Ser						p.A457S	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1462	+	Breast(15;0.00102)		457			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1369G>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	2.186	-0.386313	0.04966	.	.	ENSG00000079557	ENST00000226355	T	0.73789	-0.78	5.34	3.41	0.39046	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.768354	0.12248	N	0.485908	T	0.67011	0.2848	L	0.55834	1.745	0.09310	N	1	B	0.22983	0.078	B	0.21360	0.034	T	0.56926	-0.7898	10	0.39692	T	0.17	.	7.5823	0.27972	0.0936:0.0:0.7325:0.1739	.	457	P43652	AFAM_HUMAN	S	457	ENSP00000226355:A457S	ENSP00000226355:A457S	A	+	1	0	AFM	74583774	0.008000	0.16893	0.006000	0.13384	0.012000	0.07955	1.806000	0.38892	1.256000	0.44068	0.655000	0.94253	GCT		0.418	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			19	29	1	0	9.7654e-05	1	0.000100207	19	29				
CDC73	79577	broad.mit.edu	37	1	193094340	193094340	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:193094340G>A	ENST00000367435.3	+	2	414	c.230G>A	c.(229-231)cGt>cAt	p.R77H		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	77					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGTCCGACGTGCAGCTGTA	0.393																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(229-231)cGt>cAt		cell division cycle 73							138.0	138.0	138.0					1																	193094340		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193094340G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.230G>A	1.37:g.193094340G>A	ENSP00000356405:p.Arg77His						p.R77H	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			2	414	+			77					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.230G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399862	0.62177	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.84730	-1.89	5.88	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.41236	1.265	0.58432	D	0.999998	B	0.29671	0.254	B	0.19666	0.026	T	0.72824	-0.4176	10	0.46703	T	0.11	-9.511	11.164	0.48533	0.0661:0.0:0.805:0.1289	.	77	Q6P1J9	CDC73_HUMAN	H	77	ENSP00000356405:R77H	ENSP00000356405:R77H	R	+	2	0	CDC73	191360963	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	7.780000	0.85658	0.812000	0.34326	-0.169000	0.13324	CGT		0.393	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		17	31	0	0	0	1	0	17	31				
MAP3K15	389840	broad.mit.edu	37	X	19482401	19482401	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:19482401G>A	ENST00000338883.4	-	4	648	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	MAP3K15_ENST00000469203.2_Silent_p.L49L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	217							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCGGGCCCAGGATGTTGTCC	0.547																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(649-651)Ctg>Ttg		mitogen-activated protein kinase kinase kinase 15							113.0	90.0	97.0					X																	19482401		1568	3582	5150	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19482401G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.649C>T	X.37:g.19482401G>A						MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.L49L	p.L217L	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			4	648	-	Hepatocellular(33;0.183)		217					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.649C>T																																																																																					0.547	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		16	6	0	0	0	1	0	16	6				
PROKR1	10887	broad.mit.edu	37	2	68882258	68882258	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:68882258C>T	ENST00000303786.3	+	3	1152	c.732C>T	c.(730-732)ccC>ccT	p.P244P	PROKR1_ENST00000394342.2_Silent_p.P244P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	244					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGTGGGCCCCGTGGTCACCA	0.567																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(730-732)ccC>ccT		prokineticin receptor 1							93.0	89.0	91.0					2																	68882258		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882258C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.732C>T	2.37:g.68882258C>T						PROKR1_ENST00000394342.2_Silent_p.P244P	p.P244P			Q8TCW9	PKR1_HUMAN			3	1152	+			244					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.732C>T	CCDS1889.1																																																																																				0.567	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			21	30	0	0	0	1	0	21	30				
NPHP1	4867	broad.mit.edu	37	2	110936000	110936000	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:110936000T>C	ENST00000393272.3	-	4	426	c.329A>G	c.(328-330)gAa>gGa	p.E110G	NPHP1_ENST00000445609.2_Splice_Site_p.E110G|NPHP1_ENST00000418527.1_Missense_Mutation_p.E110G|NPHP1_ENST00000316534.4_Splice_Site_p.E110G|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Splice_Site_p.E110G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	110					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GGAAGCATACTCAGTTATATT	0.328																																						ENST00000418527.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(328-330)gAg>gGg		nephronophthisis 1 (juvenile)							148.0	142.0	144.0					2																	110936000		2203	4300	6503	SO:0001630	splice_region_variant	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110936000T>C	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.329+1A>G	2.37:g.110936000T>C						NPHP1_ENST00000417665.1_Splice_Site_p.E110_splice|NPHP1_ENST00000393272.3_Splice_Site_p.E110_splice|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000316534.4_Splice_Site_p.E110_splice|NPHP1_ENST00000445609.2_Splice_Site_p.E110_splice	p.E110G			O15259	NPHP1_HUMAN			4	359	-			110					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.329A>G	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	9.878	1.200807	0.22121	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000417665;ENST00000418527	T;T;T;T	0.65549	-0.16;-0.14;-0.16;-0.13	5.57	3.22	0.36961	.	0.577949	0.16757	N	0.200759	T	0.53578	0.1805	L	0.50333	1.59	0.25824	N	0.984254	B;B;B;B;B;B	0.23442	0.051;0.037;0.004;0.051;0.085;0.085	B;B;B;B;B;B	0.21917	0.016;0.023;0.006;0.016;0.037;0.037	T	0.49570	-0.8926	10	0.54805	T	0.06	-11.4462	8.2782	0.31885	0.0:0.1634:0.0:0.8366	.	110;110;110;110;110;110	B4DQY0;C9JNM7;C9J082;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	G	110	ENSP00000313169:E110G;ENSP00000389879:E110G;ENSP00000376953:E110G;ENSP00000402176:E110G	ENSP00000313169:E110G	E	-	2	0	NPHP1	110293289	0.998000	0.40836	0.724000	0.30704	0.260000	0.26232	1.225000	0.32551	0.500000	0.27991	0.533000	0.62120	GAA;GAA;GAA;GAA;GAG		0.328	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	Missense_Mutation	17	49	0	0	0	1	0	17	49				
ARHGAP28	79822	broad.mit.edu	37	18	6896557	6896557	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:6896557C>A	ENST00000383472.4	+	16	2066	c.1962C>A	c.(1960-1962)tcC>tcA	p.S654S	ARHGAP28_ENST00000314319.3_Silent_p.S495S|ARHGAP28_ENST00000419673.2_Silent_p.S495S|ARHGAP28_ENST00000418986.1_Silent_p.S495S|ARHGAP28_ENST00000262227.3_Silent_p.S602S|ARHGAP28_ENST00000531294.1_Silent_p.S490S|ARHGAP28_ENST00000532996.1_Silent_p.S477S|ARHGAP28_ENST00000400091.2_Silent_p.S654S			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	654					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCAAGGTGTCCATGGCCATTC	0.448																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(1483-1485)tcC>tcA		Rho GTPase activating protein 28							125.0	105.0	112.0					18																	6896557		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6896557C>A	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1962C>A	18.37:g.6896557C>A						ARHGAP28_ENST00000262227.3_Silent_p.S602S|ARHGAP28_ENST00000531294.1_Silent_p.S490S|ARHGAP28_ENST00000532996.1_Silent_p.S477S|ARHGAP28_ENST00000400091.2_Silent_p.S654S|ARHGAP28_ENST00000418986.1_Silent_p.S495S|ARHGAP28_ENST00000383472.4_Silent_p.S654S|ARHGAP28_ENST00000314319.3_Silent_p.S495S	p.S495S	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			15	1702	+		Colorectal(10;0.168)	477					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1485C>A																																																																																					0.448	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		25	34	1	0	2.44723e-14	1	2.66926e-14	25	34				
ANXA5	308	broad.mit.edu	37	4	122599624	122599624	+	Silent	SNP	G	G	A	rs202083195		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:122599624G>A	ENST00000296511.5	-	7	705	c.420C>T	c.(418-420)gaC>gaT	p.D140D	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Silent_p.D40D|ANXA5_ENST00000501272.2_Silent_p.D80D	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	140					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CCCCCACCACGTCATCTTCCA	0.393																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(418-420)gaC>gaT		annexin A5							95.0	93.0	94.0					4																	122599624		2203	4300	6503	SO:0001819	synonymous_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122599624G>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.420C>T	4.37:g.122599624G>A						ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000501272.2_Silent_p.D80D|ANXA5_ENST00000515017.1_Silent_p.D40D	p.D140D	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			7	705	-			140					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	37	c.420C>T	CCDS3720.1																																																																																				0.393	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		5	24	0	0	0	1	0	5	24				
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:5428401G>A	ENST00000341928.2	-	9	1316	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																						ENST00000341928.2																			1	Substitution - coding silent(1)	p.R326R(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(976-978)Cgg>Tgg		erythrocyte membrane protein band 4.1-like 3							140.0	144.0	143.0					18																	5428401		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428401G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>T	18.37:g.5428401G>A	ENSP00000343158:p.Arg326Trp					EPB41L3_ENST00000400111.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R326W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R326W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R326W|EPB41L3_ENST00000542652.2_5'UTR	p.R326W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1316	-			326			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.976C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916452	0.73098	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;T;D;D;D	0.87412	-2.25;-1.41;-2.25;-2.25;-2.25	5.31	3.28	0.37604	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.048246	0.85682	D	0.000000	D	0.92485	0.7614	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.968;0.975;0.942;0.987	D	0.93109	0.6515	10	0.87932	D	0	.	12.9628	0.58468	0.0:0.0:0.5501:0.4498	.	326;326;217;326;326	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	W	326;217;326;217;326;326	ENSP00000343158:R326W;ENSP00000442091:R217W;ENSP00000441174:R326W;ENSP00000341138:R326W;ENSP00000382981:R326W	ENSP00000343158:R326W	R	-	1	2	EPB41L3	5418401	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	2.596000	0.46205	1.190000	0.43042	0.655000	0.94253	CGG		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		60	103	0	0	0	1	0	60	103				
ZSWIM4	65249	broad.mit.edu	37	19	13910576	13910576	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13910576C>T	ENST00000254323.2	+	2	385	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	66							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGTCCAGAAGCGCATCGTGTT	0.617																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(196-198)Cgc>Tgc		zinc finger, SWIM-type containing 4							132.0	119.0	124.0					19																	13910576		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13910576C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.196C>T	19.37:g.13910576C>T	ENSP00000254323:p.Arg66Cys						p.R66C	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		2	385	+			66						Missense_Mutation	SNP	ENST00000254323.2	37	c.196C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	c	19.93	3.917496	0.73098	.	.	ENSG00000132003	ENST00000254323	T	0.54675	0.56	4.41	4.41	0.53225	.	0.000000	0.52532	D	0.000066	T	0.76040	0.3932	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81933	-0.0706	10	0.87932	D	0	-22.7538	14.5085	0.67769	0.0:1.0:0.0:0.0	.	66	Q9H7M6	ZSWM4_HUMAN	C	66	ENSP00000254323:R66C	ENSP00000254323:R66C	R	+	1	0	ZSWIM4	13771576	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.331000	0.43894	1.995000	0.58328	0.555000	0.69702	CGC		0.617	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		28	55	0	0	0	1	0	28	55				
ELAC1	55520	broad.mit.edu	37	18	48513361	48513361	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48513361C>T	ENST00000269466.3	+	4	1105	c.998C>T	c.(997-999)gCa>gTa	p.A333V	RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	333					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GATGGCATTGCAGAACTAAAA	0.428																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(997-999)gCa>gTa		elaC ribonuclease Z 1							94.0	82.0	86.0					18																	48513361		2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48513361C>T	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.998C>T	18.37:g.48513361C>T	ENSP00000269466:p.Ala333Val					RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron	p.A333V	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	4	1105	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	333					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.998C>T	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824172	0.16678	.	.	ENSG00000141642	ENST00000269466	T	0.47869	0.83	5.63	-1.42	0.08913	.	0.939981	0.09084	N	0.850914	T	0.21590	0.0520	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	10	0.28530	T	0.3	.	3.2653	0.06863	0.1143:0.2045:0.1244:0.5568	.	333	Q9H777	RNZ1_HUMAN	V	333	ENSP00000269466:A333V	ENSP00000269466:A333V	A	+	2	0	ELAC1	46767359	0.000000	0.05858	0.160000	0.22671	0.991000	0.79684	0.156000	0.16382	-0.026000	0.13895	-0.150000	0.13652	GCA		0.428	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			19	26	0	0	0	1	0	19	26				
NWD1	284434	broad.mit.edu	37	19	16918719	16918719	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:16918719C>T	ENST00000552788.1	+	16	4059	c.4059C>T	c.(4057-4059)agC>agT	p.S1353S	NWD1_ENST00000549814.1_Silent_p.S1311S|NWD1_ENST00000339803.6_Silent_p.S1218S|NWD1_ENST00000379808.3_Silent_p.S1353S|NWD1_ENST00000523826.1_Silent_p.S1147S|NWD1_ENST00000524140.2_Silent_p.S1353S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1353							ATP binding (GO:0005524)	p.S1353S(1)|p.S1218S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCTCCAGCGTGGCCATTC	0.577																																						ENST00000524140.2																			2	Substitution - coding silent(2)	p.S1353S(1)|p.S1218S(1)	endometrium(2)	NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4057-4059)agC>agT		NACHT and WD repeat domain containing 1							163.0	141.0	148.0					19																	16918719		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16918719C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4059C>T	19.37:g.16918719C>T						NWD1_ENST00000339803.6_Silent_p.S1218S|NWD1_ENST00000523826.1_Silent_p.S1147S|NWD1_ENST00000552788.1_Silent_p.S1353S|NWD1_ENST00000379808.3_Silent_p.S1353S|NWD1_ENST00000549814.1_Silent_p.S1311S	p.S1353S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			18	4477	+			1353					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.4059C>T																																																																																					0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		55	101	0	0	0	1	0	55	101				
RFX3	5991	broad.mit.edu	37	9	3248153	3248153	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:3248153C>T	ENST00000382004.3	-	16	2158	c.1847G>A	c.(1846-1848)aGt>aAt	p.S616N	RFX3_ENST00000302303.1_Missense_Mutation_p.S616N|RFX3_ENST00000358730.2_Missense_Mutation_p.S616N	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	616					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCTAGCAGCACTGCGTAAGGT	0.413																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1846-1848)aGt>aAt		regulatory factor X, 3 (influences HLA class II expression)							61.0	56.0	58.0					9																	3248153		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3248153C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1847G>A	9.37:g.3248153C>T	ENSP00000371434:p.Ser616Asn					RFX3_ENST00000358730.2_Missense_Mutation_p.S616N|RFX3_ENST00000302303.1_Missense_Mutation_p.S616N	p.S616N	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	16	2158	-			616					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1847G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377111	0.95945	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.77	5.77	0.91146	.	0.040748	0.85682	D	0.000000	T	0.67344	0.2883	M	0.66378	2.025	0.80722	D	1	D;P	0.54964	0.969;0.942	D;P	0.66351	0.943;0.764	T	0.61831	-0.6982	10	0.33940	T	0.23	-14.4686	19.9926	0.97371	0.0:1.0:0.0:0.0	.	616;616	P48380-2;P48380	.;RFX3_HUMAN	N	616;616;616;81;95	ENSP00000371434:S616N;ENSP00000351574:S616N;ENSP00000303847:S616N;ENSP00000415594:S81N	ENSP00000303847:S616N	S	-	2	0	RFX3	3238153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.729000	0.93468	0.467000	0.42956	AGT		0.413	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		17	24	0	0	0	1	0	17	24				
GCNT1	2650	broad.mit.edu	37	9	79117907	79117907	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:79117907T>A	ENST00000376730.4	+	4	1093	c.610T>A	c.(610-612)Tat>Aat	p.Y204N	GCNT1_ENST00000444201.2_Missense_Mutation_p.Y204N|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y204N|GCNT1_ENST00000442371.1_Missense_Mutation_p.Y204N	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	204	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GAAGGATCTCTATGCAATGAG	0.423																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(610-612)Tat>Aat		glucosaminyl (N-acetyl) transferase 1, core 2							79.0	78.0	78.0					9																	79117907		2203	4299	6502	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117907T>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.610T>A	9.37:g.79117907T>A	ENSP00000365920:p.Tyr204Asn					GCNT1_ENST00000376730.4_Missense_Mutation_p.Y204N|GCNT1_ENST00000536223.1_Missense_Mutation_p.Y204N|GCNT1_ENST00000444201.2_Missense_Mutation_p.Y204N	p.Y204N	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1549	+			204			Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.610T>A	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	t	10.10	1.258400	0.23051	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	6.07	2.51	0.30379	.	0.251377	0.41294	D	0.000912	T	0.20088	0.0483	L	0.57536	1.79	0.23855	N	0.996651	P	0.50528	0.936	P	0.56751	0.805	T	0.03545	-1.1026	9	.	.	.	.	8.8636	0.35272	0.0:0.2656:0.0:0.7344	.	204	Q02742	GCNT1_HUMAN	N	204	ENSP00000440883:Y204N;ENSP00000415454:Y204N;ENSP00000390703:Y204N;ENSP00000365920:Y204N	.	Y	+	1	0	GCNT1	78307727	0.038000	0.19896	0.029000	0.17559	0.044000	0.14063	0.482000	0.22276	0.190000	0.20209	-0.256000	0.11100	TAT		0.423	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		46	50	0	0	0	1	0	46	50				
KMT2A	4297	broad.mit.edu	37	11	118390416	118390416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118390416C>T	ENST00000389506.5	+	32	11221	c.11221C>T	c.(11221-11223)Cga>Tga	p.R3741*	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3703*|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R3744*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3741	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				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)										CAAGCACTGTCGAAATTACAA	0.522																																						ENST00000534358.1																			0											c.(11230-11232)Cga>Tga		lysine (K)-specific methyltransferase 2A							165.0	149.0	155.0					11																	118390416		2200	4295	6495	SO:0001587	stop_gained	4297							g.chr11:118390416C>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.11221C>T	11.37:g.118390416C>T	ENSP00000374157:p.Arg3741*					RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R3741*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3703*	p.R3744*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					32	11253	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.11230C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	52	19.246714	0.99917	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.82	0.942	0.19525	.	0.119730	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6414	0.77006	0.4037:0.5963:0.0:0.0	.	.	.	.	X	3744;3741;3703;2651	.	ENSP00000346516:R3703X	R	+	1	2	MLL	117895626	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.191000	0.50981	0.618000	0.30179	-0.311000	0.09066	CGA		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	63	0	0	0	1	0	6	63				
DUSP16	80824	broad.mit.edu	37	12	12630760	12630760	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:12630760C>T	ENST00000228862.2	-	7	1636	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	335					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GACTGAGGGGCGTCTCGCTTT	0.622																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1003-1005)acG>acA		dual specificity phosphatase 16							54.0	50.0	52.0					12																	12630760		2203	4300	6503	SO:0001819	synonymous_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630760C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1005G>A	12.37:g.12630760C>T						DUSP16_ENST00000298573.4_3'UTR	p.T335T	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1636	-		Prostate(47;0.0687)	335					Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	c.1005G>A	CCDS8650.1																																																																																				0.622	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		24	30	0	0	0	1	0	24	30				
HSD3B2	3284	broad.mit.edu	37	1	119964454	119964454	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:119964454C>A	ENST00000543831.1	+	4	579	c.330C>A	c.(328-330)gcC>gcA	p.A110A	HSD3B2_ENST00000369416.3_Silent_p.A110A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	110					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TGTTGGAGGCCTGTGTCCAAG	0.537																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(328-330)gcC>gcA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						125.0	125.0	125.0					1																	119964454		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964454C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.330C>A	1.37:g.119964454C>A						HSD3B2_ENST00000369416.3_Silent_p.A110A	p.A110A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	579	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	110					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.330C>A	CCDS902.1																																																																																				0.537	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		72	90	1	0	3.12118e-38	1	3.50628e-38	72	90				
ANK1	286	broad.mit.edu	37	8	41548012	41548012	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:41548012G>A	ENST00000347528.4	-	32	4047	c.3964C>T	c.(3964-3966)Cgt>Tgt	p.R1322C	ANK1_ENST00000396945.1_Missense_Mutation_p.R1322C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1322C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1363C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1322C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1322C|ANK1_ENST00000396942.1_Missense_Mutation_p.R1322C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1322	UPA domain. {ECO:0000250}.				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)			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)			ATGGCCAGACGGTTCTCCCGA	0.567																																						ENST00000396942.1																			0				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						c.(3964-3966)Cgt>Tgt		ankyrin 1, erythrocytic							59.0	62.0	61.0					8																	41548012		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.chr8:41548012G>A	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.3964C>T	8.37:g.41548012G>A	ENSP00000339620:p.Arg1322Cys					ANK1_ENST00000347528.4_Missense_Mutation_p.R1322C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1322C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1363C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1322C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1322C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1322C	p.R1322C			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)		32	4047	-	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)	1322					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3964C>T	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.860508|2.860508	0.51482|0.51482	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.08|5.08	4.21|4.21	0.49690|0.49690	.|.	.|0.060371	.|0.64402	.|D	.|0.000005	T|T	0.44726|0.44726	0.1307|0.1307	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|B;B;P;D;B;D	.|0.69078	.|0.057;0.268;0.576;0.992;0.033;0.997	.|B;B;B;P;B;P	.|0.50314	.|0.046;0.023;0.12;0.538;0.046;0.637	T|T	0.51702|0.51702	-0.8672|-0.8672	5|10	.|0.87932	.|D	.|0	.|.	8.1189|8.1189	0.30959|0.30959	0.08:0.0:0.765:0.155|0.08:0.0:0.765:0.155	.|.	.|1363;1322;1322;1322;1322;638	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	L|C	643|1322;1322;1322;1322;1322;1322;1363;1322	.|ENSP00000339620:R1322C;ENSP00000289734:R1322C;ENSP00000369082:R1322C;ENSP00000380149:R1322C;ENSP00000380147:R1322C;ENSP00000309131:R1322C;ENSP00000265709:R1363C	.|ENSP00000265709:R1363C	P|R	-|-	2|1	0|0	ANK1|ANK1	41667169|41667169	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	1.726000|1.726000	0.38085|0.38085	1.358000|1.358000	0.45922|0.45922	0.563000|0.563000	0.77884|0.77884	CCG|CGT		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	33	0	0	0	1	0	4	33				
C1orf87	127795	broad.mit.edu	37	1	60463394	60463394	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:60463394G>A	ENST00000371201.3	-	11	1474	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S227F|C1orf87_ENST00000395552.1_Missense_Mutation_p.S90F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	456							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAGGGCTGGGAGACTGGCCT	0.498																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1366-1368)tCc>tTc		chromosome 1 open reading frame 87							113.0	110.0	111.0					1																	60463394		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60463394G>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1367C>T	1.37:g.60463394G>A	ENSP00000360244:p.Ser456Phe					C1orf87_ENST00000395552.1_Missense_Mutation_p.S90F|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S227F	p.S456F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			11	1474	-			456					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1367C>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305416	0.60305	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.35236	2.08;1.32	5.49	5.49	0.81192	.	0.000000	0.47093	D	0.000255	T	0.58509	0.2127	M	0.61703	1.905	0.44643	D	0.997624	D	0.89917	1.0	D	0.91635	0.999	T	0.56396	-0.7986	10	0.54805	T	0.06	-3.6734	16.9204	0.86162	0.0:0.0:1.0:0.0	.	456	Q8N0U7	CA087_HUMAN	F	456;90;227	ENSP00000360244:S456F;ENSP00000378921:S90F	ENSP00000360244:S456F	S	-	2	0	C1orf87	60235982	0.988000	0.35896	1.000000	0.80357	0.353000	0.29299	3.409000	0.52657	2.857000	0.98124	0.650000	0.86243	TCC		0.498	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		29	48	0	0	0	1	0	29	48				
ABCF1	23	broad.mit.edu	37	6	30551625	30551625	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30551625C>A	ENST00000326195.8	+	12	1172	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.L316M|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	354	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAACCGAGCCCTGAGCATCCC	0.537																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1060-1062)Ctg>Atg		ATP-binding cassette, sub-family F (GCN20), member 1							102.0	82.0	89.0					6																	30551625		1511	2709	4220	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30551625C>A	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1060C>A	6.37:g.30551625C>A	ENSP00000313603:p.Leu354Met					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.L316M	p.L354M	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			12	1172	+			354			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1060C>A	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821200	0.71028	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.93763	-3.28;-3.28	4.79	3.86	0.44501	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.073092	0.56097	D	0.000031	D	0.94765	0.8310	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.989;0.989	D	0.94913	0.8066	10	0.87932	D	0	-13.7251	10.4165	0.44325	0.0:0.8956:0.0:0.1044	.	316;354;354	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	M	354;316;355	ENSP00000313603:L354M;ENSP00000365728:L316M	ENSP00000313603:L354M	L	+	1	2	ABCF1	30659604	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.758000	0.47565	1.068000	0.40764	0.462000	0.41574	CTG		0.537	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			20	27	1	0	1.66031e-10	1	1.77558e-10	20	27				
RIN1	9610	broad.mit.edu	37	11	66102431	66102431	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66102431C>T	ENST00000311320.4	-	6	965	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	RIN1_ENST00000530056.1_Missense_Mutation_p.R175Q|RIN1_ENST00000424433.2_Missense_Mutation_p.R175Q|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	280					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGGGGGCAGCCGCTCTGTCTG	0.701																																						ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(838-840)cGg>cAg		Ras and Rab interactor 1							19.0	17.0	18.0					11																	66102431		2198	4291	6489	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102431C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.839G>A	11.37:g.66102431C>T	ENSP00000310406:p.Arg280Gln					RIN1_ENST00000530056.1_Missense_Mutation_p.R175Q|RIN1_ENST00000424433.2_Missense_Mutation_p.R175Q|RP11-867G23.12_ENST00000526655.1_RNA	p.R280Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	965	-			280					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.839G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	8.310	0.822003	0.16678	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.13901	3.1;2.96;2.55	4.26	2.21	0.28008	.	0.592334	0.16578	N	0.208337	T	0.08758	0.0217	L	0.50333	1.59	0.09310	N	1	P;P	0.43352	0.585;0.804	B;B	0.30251	0.113;0.057	T	0.26292	-1.0107	10	0.25751	T	0.34	-10.0368	6.4896	0.22107	0.0:0.7049:0.1846:0.1106	.	175;280	E9PNR2;Q13671	.;RIN1_HUMAN	Q	280;175;175	ENSP00000310406:R280Q;ENSP00000400560:R175Q;ENSP00000432798:R175Q	ENSP00000310406:R280Q	R	-	2	0	RIN1	65859007	0.002000	0.14202	0.008000	0.14137	0.164000	0.22412	1.425000	0.34859	0.918000	0.36919	0.462000	0.41574	CGG		0.701	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		4	7	0	0	0	1	0	4	7				
DPAGT1	1798	broad.mit.edu	37	11	118978777	118978777	+	5'UTR	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118978777C>T	ENST00000409993.2	-	0	264				C2CD2L_ENST00000336702.3_Missense_Mutation_p.A109V|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGGGTGCGAGCGCTGAACGAG	0.657																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(325-327)gCg>gTg		C2CD2-like							21.0	25.0	24.0					11																	118978777		2139	4211	6350	SO:0001623	5_prime_UTR_variant	9854					integral to membrane		g.chr11:118978777C>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.-1288G>A	11.37:g.118978777C>T						DPAGT1_ENST00000409993.2_5'UTR	p.A109V	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			1	685	+			109					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.326C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567075	0.96540	.	.	ENSG00000172375	ENST00000336702	T	0.53640	0.61	4.87	4.87	0.63330	.	0.051916	0.85682	D	0.000000	T	0.65719	0.2718	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68704	-0.5338	10	0.87932	D	0	-2.2178	14.8597	0.70372	0.0:1.0:0.0:0.0	.	109;109	O14523;O14523-2	C2C2L_HUMAN;.	V	109	ENSP00000338885:A109V	ENSP00000338885:A109V	A	+	2	0	C2CD2L	118483987	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.332000	0.72934	2.510000	0.84645	0.563000	0.77884	GCG		0.657	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		11	28	0	0	0	1	0	11	28				
SLCO1A2	6579	broad.mit.edu	37	12	21445155	21445155	+	Missense_Mutation	SNP	G	G	A	rs377061804		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:21445155G>A	ENST00000307378.6	-	13	2273	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.A516V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.A518V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	518					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACTGCTCATCGCTGACAAGAT	0.383																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1552-1554)gCg>gTg		solute carrier organic anion transporter family, member 1A2		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	54.0	55.0		1553,1553	-0.1	0.0	12		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	518/671,518/671	21445155	1,13005	2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21445155G>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1553C>T	12.37:g.21445155G>A	ENSP00000305974:p.Ala518Val					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.A518V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.A516V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.A386V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.A386V	p.A518V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			13	2273	-			518					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1553C>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.314027	0.00235	0.0	1.16E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.11	5.09	-0.0963	0.13637	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.258880	0.05315	N	0.525559	T	0.18800	0.0451	N	0.00399	-1.545	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.32508	-0.9904	10	0.02654	T	1	.	5.2803	0.15673	0.5121:0.1531:0.3348:0.0	.	516;518	P46721-2;P46721	.;SO1A2_HUMAN	V	518;518;386;386;516	ENSP00000305974:A518V;ENSP00000393973:A518V;ENSP00000394854:A386V;ENSP00000439401:A386V;ENSP00000375088:A516V	ENSP00000305974:A518V	A	-	2	0	SLCO1A2	21336422	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.550000	0.36223	-0.195000	0.10382	-0.300000	0.09419	GCG		0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		15	17	0	0	0	1	0	15	17				
ARHGEF25	115557	broad.mit.edu	37	12	58009785	58009785	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58009785C>T	ENST00000286494.4	+	13	1865	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R508W	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	469	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAGAGCCAACGGGACTTCCT	0.572																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1405-1407)Cgg>Tgg		Rho guanine nucleotide exchange factor (GEF) 25							132.0	129.0	130.0					12																	58009785		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009785C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1405C>T	12.37:g.58009785C>T	ENSP00000286494:p.Arg469Trp					AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R508W|AC025165.8_ENST00000444467.1_RNA	p.R469W	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			13	1865	+			469			Sufficient to bind activated GNAQ.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1405C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	N	16.18	3.050005	0.55218	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.44482	0.92;0.92	4.86	1.86	0.25419	Pleckstrin homology-type (1);	0.000000	0.34828	N	0.003649	T	0.60470	0.2271	M	0.73598	2.24	0.48511	D	0.999668	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.972	T	0.64210	-0.6461	10	0.87932	D	0	.	11.2187	0.48842	0.5836:0.4164:0.0:0.0	.	508;469	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	W	508;469	ENSP00000335560:R508W;ENSP00000286494:R469W	ENSP00000286494:R469W	R	+	1	2	ARHGEF25	56296052	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.136000	0.31467	0.726000	0.32339	0.549000	0.68633	CGG		0.572	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		50	56	0	0	0	1	0	50	56				
MED29	55588	broad.mit.edu	37	19	39879256	39879256	+	5'Flank	SNP	C	C	T	rs143167089	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39879256C>T	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Silent_p.T257T|PAF1_ENST00000221266.7_Silent_p.T234T|PAF1_ENST00000221265.3_Silent_p.T267T|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTTCTTCAACGTCTCTTCTA	0.512																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(799-801)acG>acA		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)		C		3,4403	6.2+/-15.9	0,3,2200	132.0	123.0	126.0		801	-10.0	0.0	19	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	PAF1	NM_019088.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		267/532	39879256	3,13003	2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879256C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879256C>T	Exception_encountered					PAF1_ENST00000595564.1_Silent_p.T257T|PAF1_ENST00000221266.7_Silent_p.T234T	p.T267T	NM_019088.3	NP_061961.2	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)		10	1131	-	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)		267					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.801G>A																																																																																					0.512	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		13	61	0	0	0	1	0	13	61				
KIAA1551	55196	broad.mit.edu	37	12	32136765	32136765	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:32136765C>A	ENST00000312561.4	+	4	3290	c.2876C>A	c.(2875-2877)cCt>cAt	p.P959H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	959																	AAAGATAAACCTGTACAGTGC	0.358																																						ENST00000312561.4																			0											c.(2875-2877)cCt>cAt		KIAA1551							44.0	46.0	45.0					12																	32136765		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32136765C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2876C>A	12.37:g.32136765C>A	ENSP00000310338:p.Pro959His					KIAA1551_ENST00000535596.1_Intron	p.P959H	NM_018169.3	NP_060639.3					4	3290	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2876C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486484	0.26686	.	.	ENSG00000174718	ENST00000312561	T	0.11277	2.79	5.7	-10.5	0.00291	.	1.867290	0.02456	N	0.086047	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	P	0.47034	0.889	P	0.45449	0.481	T	0.35943	-0.9768	9	.	.	.	.	4.0724	0.09889	0.172:0.098:0.4582:0.2718	.	959	Q9HCM1	CL035_HUMAN	H	959	ENSP00000310338:P959H	.	P	+	2	0	C12orf35	32028032	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.247000	0.02893	-1.849000	0.01171	-0.882000	0.02950	CCT		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		35	33	1	0	3.93418e-24	1	4.38783e-24	35	33				
IRAK2	3656	broad.mit.edu	37	3	10219598	10219598	+	Silent	SNP	G	G	A	rs572521578	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:10219598G>A	ENST00000256458.4	+	2	261	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGAGCATCACGCGGGAGCTGC	0.637													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15740	0.0		0.0	False		,,,				2504	0.0					ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(169-171)acG>acA		interleukin-1 receptor-associated kinase 2							70.0	64.0	66.0					3																	10219598		2203	4300	6503	SO:0001819	synonymous_variant	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219598G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.171G>A	3.37:g.10219598G>A							p.T57T	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	261	+			57			Death.		B4DQZ6|Q08AG6|Q5K546	Silent	SNP	ENST00000256458.4	37	c.171G>A	CCDS33697.1																																																																																				0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			18	38	0	0	0	1	0	18	38				
WDR24	84219	broad.mit.edu	37	16	735360	735360	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:735360T>C	ENST00000248142.6	-	11	2305	c.2306A>G	c.(2305-2307)gAc>gGc	p.D769G	JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.D639G			Q96S15	WDR24_HUMAN	WD repeat domain 24	769										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGCAGCATGTCGCGCACCAG	0.647																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(1915-1917)gAc>gGc		WD repeat domain 24							54.0	58.0	57.0					16																	735360		2199	4300	6499	SO:0001583	missense	84219							g.chr16:735360T>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2306A>G	16.37:g.735360T>C	ENSP00000248142:p.Asp769Gly					WDR24_ENST00000248142.6_Missense_Mutation_p.D769G	p.D639G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			7	2675	-		Hepatocellular(780;0.0218)	769					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.1916A>G		.	.	.	.	.	.	.	.	.	.	T	19.33	3.806547	0.70682	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77877	-1.13;0.3	4.78	4.78	0.61160	.	0.101020	0.64402	D	0.000002	T	0.74589	0.3736	L	0.45352	1.415	0.58432	D	0.999991	P	0.40731	0.728	B	0.43445	0.42	T	0.78443	-0.2202	10	0.87932	D	0	-39.7672	13.6193	0.62128	0.0:0.0:0.0:1.0	.	639	Q96S15-2	.	G	769;639	ENSP00000248142:D769G;ENSP00000293883:D639G	ENSP00000248142:D769G	D	-	2	0	WDR24	675361	1.000000	0.71417	0.985000	0.45067	0.179000	0.23085	7.463000	0.80869	2.009000	0.58944	0.418000	0.28097	GAC		0.647	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		11	19	0	0	0	1	0	11	19				
GRAMD1A	57655	broad.mit.edu	37	19	35510307	35510307	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:35510307C>T	ENST00000317991.5	+	13	1537	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442C|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R536C|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215C|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	449						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCTGTTCCGGCGCGGCCCCCA	0.687																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1606-1608)Cgc>Tgc		GRAM domain containing 1A							40.0	50.0	47.0					19																	35510307		2195	4289	6484	SO:0001583	missense	57655					integral to membrane		g.chr19:35510307C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1345C>T	19.37:g.35510307C>T	ENSP00000441032:p.Arg449Cys					GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215C|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442C|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R449C	p.R536C			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		14	1677	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		449					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.1606C>T	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786747	0.49997	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.42513	0.97;1.95;1.97	4.54	4.54	0.55810	.	0.060508	0.64402	D	0.000003	T	0.38026	0.1025	N	0.05177	-0.1	0.44603	D	0.997574	D;D;D;P	0.71674	0.998;0.993;0.998;0.625	P;B;P;B	0.59825	0.864;0.348;0.827;0.057	T	0.40534	-0.9558	10	0.37606	T	0.19	.	14.814	0.70017	0.0:1.0:0.0:0.0	.	449;449;215;442	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	C	535;215;449;442	ENSP00000423728:R215C;ENSP00000441032:R449C;ENSP00000439267:R442C	ENSP00000441032:R449C	R	+	1	0	GRAMD1A	40202147	0.633000	0.27181	0.987000	0.45799	0.978000	0.69477	1.070000	0.30653	2.346000	0.79739	0.491000	0.48974	CGC		0.687	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		21	34	0	0	0	1	0	21	34				
ABR	29	broad.mit.edu	37	17	994938	994938	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:994938G>A	ENST00000302538.5	-	4	644	c.498C>T	c.(496-498)agC>agT	p.S166S	ABR_ENST00000574437.1_Silent_p.S120S|ABR_ENST00000291107.2_Silent_p.S129S|ABR_ENST00000544583.2_Silent_p.S120S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	166	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGGTGACCTGGCTGTCCCACT	0.567																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(358-360)agC>agT		active BCR-related							138.0	119.0	125.0					17																	994938		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:994938G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.498C>T	17.37:g.994938G>A						ABR_ENST00000574437.1_Silent_p.S120S|ABR_ENST00000291107.2_Silent_p.S129S|ABR_ENST00000302538.5_Silent_p.S166S	p.S120S	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	4	959	-			166			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.360C>T	CCDS10999.1																																																																																				0.567	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			31	37	0	0	0	1	0	31	37				
DDX60	55601	broad.mit.edu	37	4	169195115	169195115	+	Silent	SNP	G	G	A	rs372730500		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:169195115G>A	ENST00000393743.3	-	17	2715	c.2424C>T	c.(2422-2424)gaC>gaT	p.D808D		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	808	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGACCACCCCGTCGTCGCTCT	0.448																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2422-2424)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							153.0	142.0	146.0					4																	169195115		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169195115G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2424C>T	4.37:g.169195115G>A							p.D808D	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	17	2715	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	808			Helicase ATP-binding.		Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.2424C>T	CCDS34097.1																																																																																				0.448	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		5	68	0	0	0	1	0	5	68				
DMBT1	1755	broad.mit.edu	37	10	124390529	124390529	+	Silent	SNP	G	G	A	rs375865088		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:124390529G>A	ENST00000338354.3	+	46	5797	c.5691G>A	c.(5689-5691)ggG>ggA	p.G1897G	DMBT1_ENST00000359586.6_Silent_p.G617G|DMBT1_ENST00000368909.3_Silent_p.G1897G|DMBT1_ENST00000330163.4_Silent_p.G1269G|DMBT1_ENST00000344338.3_Silent_p.G1887G|DMBT1_ENST00000368956.2_Silent_p.G1269G|DMBT1_ENST00000368955.3_Silent_p.G1887G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1897	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATGTGCCGGGCGTGTAGAAA	0.488																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5689-5691)ggG>ggA		deleted in malignant brain tumors 1		G	,,	1,3925		0,1,1962	130.0	123.0	125.0		3807,5691,5661	-5.1	0.2	10		125	0,8270		0,0,4135	no	coding-synonymous,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,1,6097	AA,AG,GG		0.0,0.0255,0.0082	,,	1269/1786,1897/2414,1887/2404	124390529	1,12195	1963	4135	6098	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390529G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5691G>A	10.37:g.124390529G>A						DMBT1_ENST00000344338.3_Silent_p.G1887G|DMBT1_ENST00000368909.3_Silent_p.G1897G|DMBT1_ENST00000368955.3_Silent_p.G1887G|DMBT1_ENST00000359586.6_Silent_p.G617G|DMBT1_ENST00000330163.4_Silent_p.G1269G|DMBT1_ENST00000368956.2_Silent_p.G1269G	p.G1897G			Q9UGM3	DMBT1_HUMAN			46	5797	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1897			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.5691G>A																																																																																					0.488	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	42	0	0	0	1	0	5	42				
DOPEY1	23033	broad.mit.edu	37	6	83841913	83841913	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:83841913T>C	ENST00000349129.2	+	18	2895	c.2635T>C	c.(2635-2637)Tgg>Cgg	p.W879R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.W870R|DOPEY1_ENST00000237163.5_Missense_Mutation_p.W860R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	879					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTAACATTGTGGGACCAGTT	0.353																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2635-2637)Tgg>Cgg		dopey family member 1							131.0	129.0	129.0					6																	83841913		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83841913T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2635T>C	6.37:g.83841913T>C	ENSP00000195654:p.Trp879Arg					DOPEY1_ENST00000237163.5_Missense_Mutation_p.W860R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.W870R	p.W879R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	18	2895	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	879					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2635T>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309708	0.81247	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.58210	0.35;0.43	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.73898	-0.3837	10	0.87932	D	0	.	16.1637	0.81739	0.0:0.0:0.0:1.0	.	770;870;879	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	879;860;860	ENSP00000195654:W879R;ENSP00000237163:W860R	ENSP00000237163:W860R	W	+	1	0	DOPEY1	83898632	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.698000	0.84413	2.216000	0.71823	0.533000	0.62120	TGG		0.353	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		35	48	0	0	0	1	0	35	48				
FOXA3	3171	broad.mit.edu	37	19	46375966	46375966	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:46375966G>A	ENST00000302177.2	+	2	900	c.703G>A	c.(703-705)Ggg>Agg	p.G235R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	235					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GAACGGGACAGGGTCTGCTGC	0.682																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(703-705)Ggg>Agg		forkhead box A3							7.0	8.0	8.0					19																	46375966		2158	4238	6396	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375966G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.703G>A	19.37:g.46375966G>A	ENSP00000304004:p.Gly235Arg						p.G235R	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	900	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	235					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.703G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.004993	0.07866	.	.	ENSG00000170608	ENST00000302177	D	0.92199	-2.99	3.87	2.82	0.32997	.	3.275650	0.00983	N	0.003400	D	0.85146	0.5630	N	0.19112	0.55	0.09310	N	1	B	0.29085	0.232	B	0.24269	0.052	T	0.74677	-0.3585	10	0.23302	T	0.38	.	5.9314	0.19140	0.2384:0.0:0.7616:0.0	.	235	P55318	FOXA3_HUMAN	R	235	ENSP00000304004:G235R	ENSP00000304004:G235R	G	+	1	0	FOXA3	51067806	0.187000	0.23238	0.024000	0.17045	0.501000	0.33797	2.140000	0.42159	0.945000	0.37605	0.453000	0.30009	GGG		0.682	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			9	8	0	0	0	1	0	9	8				
ANK2	287	broad.mit.edu	37	4	114238872	114238872	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:114238872C>A	ENST00000357077.4	+	25	2756	c.2703C>A	c.(2701-2703)tcC>tcA	p.S901S	ANK2_ENST00000264366.6_Silent_p.S901S|ANK2_ENST00000509550.1_Silent_p.S110S|ANK2_ENST00000506722.1_Silent_p.S880S|ANK2_ENST00000394537.3_Silent_p.S901S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	901					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCTTCGATCCTTCAGTTCCG	0.527																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2701-2703)tcC>tcA		ankyrin 2, neuronal							167.0	134.0	145.0					4																	114238872		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114238872C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2703C>A	4.37:g.114238872C>A						ANK2_ENST00000509550.1_Silent_p.S110S|ANK2_ENST00000264366.6_Silent_p.S901S|ANK2_ENST00000394537.3_Silent_p.S901S|ANK2_ENST00000506722.1_Silent_p.S880S	p.S901S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	25	2756	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	901					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2703C>A	CCDS3702.1																																																																																				0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	16	1	0	2.80697e-09	1	2.97546e-09	10	16				
DOCK9	23348	broad.mit.edu	37	13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9-AS1_ENST00000439367.1_RNA|DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(4747-4749)Gcc>Acc		dedicator of cytokinesis 9							85.0	83.0	83.0					13																	99481710		2098	4230	6328	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99481710C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4747G>A	13.37:g.99481710C>T	ENSP00000365643:p.Ala1583Thr					DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T|DOCK9_ENST00000448493.2_3'UTR	p.A1583T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			43	4827	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1584			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.4747G>A	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.373236|5.373236	0.95923|0.95923	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453;ENST00000340449|ENST00000400228	T;T;T|.	0.69175|.	2.3;2.39;-0.38|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.052677|.	0.85682|.	D|.	0.000000|.	D|D	0.84624|0.84624	0.5513|0.5513	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.63880|.	0.991;0.962;0.967;0.984;0.993;0.782;0.967;0.98|.	P;P;P;P;P;B;P;P|.	0.59761|.	0.691;0.734;0.631;0.651;0.863;0.261;0.631;0.796|.	D|D	0.85147|0.85147	0.0984|0.0984	10|5	0.87932|.	D|.	0|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1584;303;227;1583;227;1584;276;226|.	A8MWZ5;B7Z6H5;B7Z2J2;Q9BZ29-5;Q5JUD8;Q9BZ29;B7Z6G9;F5H1Q4|.	.;.;.;.;.;DOCK9_HUMAN;.;.|.	T|H	1583;1584;1576;1584;1583;514;1584;226;227|170	ENSP00000365643:A1583T;ENSP00000341086:A1584T;ENSP00000344702:A227T|.	ENSP00000341086:A1584T|.	A|R	-|-	1|2	0|0	DOCK9|DOCK9	98279711|98279711	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.996000|0.996000	0.88848|0.88848	5.667000|5.667000	0.68067|0.68067	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		9	11	0	0	0	1	0	9	11				
EFCAB14	9813	broad.mit.edu	37	1	47144280	47144280	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47144280G>A	ENST00000371933.3	-	11	2317	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	447	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										CCACGTCCTGGCCAGTCTTGC	0.423																																						ENST00000371933.3																			0											c.(1339-1341)ggC>ggT		EF-hand calcium binding domain 14							80.0	81.0	81.0					1																	47144280		2203	4300	6503	SO:0001819	synonymous_variant	9813							g.chr1:47144280G>A	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1341C>T	1.37:g.47144280G>A						EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA	p.G447G	NM_014774.2	NP_055589.1					11	2317	-								D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	c.1341C>T	CCDS30706.1																																																																																				0.423	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		23	42	0	0	0	1	0	23	42				
CNTN4	152330	broad.mit.edu	37	3	3084089	3084089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:3084089C>T	ENST00000397461.1	+	20	2878	c.2494C>T	c.(2494-2496)Cga>Tga	p.R832*	CNTN4_ENST00000448906.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R613*|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R832*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R832*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	832	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATAGAGGACGAATACAAGG	0.458																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2494-2496)Cga>Tga		contactin 4							92.0	89.0	90.0					3																	3084089		2203	4300	6503	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084089C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2494C>T	3.37:g.3084089C>T	ENSP00000380602:p.Arg832*					CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R613*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.R504*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R832*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R832*	p.R832*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	20	2878	+		Ovarian(110;0.156)	832			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.2494C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	38	7.091906	0.98059	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.61	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0641	0.42292	0.2647:0.6323:0.103:0.0	.	.	.	.	X	832;832;832;613;504;504	.	ENSP00000351267:R613X	R	+	1	2	CNTN4	3059089	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.180000	0.32005	1.484000	0.48361	0.655000	0.94253	CGA		0.458	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			19	27	0	0	0	1	0	19	27				
DIS3L2	129563	broad.mit.edu	37	2	233127987	233127987	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:233127987G>A	ENST00000409307.1	+	12	1496	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N	DIS3L2_ENST00000273009.6_Missense_Mutation_p.S499N|DIS3L2_ENST00000325385.7_Missense_Mutation_p.S499N					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CATGCACAGAGCATGATTGAA	0.512																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1495-1497)aGc>aAc		DIS3 mitotic control homolog (S. cerevisiae)-like 2							86.0	90.0	89.0					2																	233127987		1975	4154	6129	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233127987G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1496G>A	2.37:g.233127987G>A	ENSP00000386799:p.Ser499Asn					DIS3L2_ENST00000273009.6_Missense_Mutation_p.S499N|DIS3L2_ENST00000409307.1_Missense_Mutation_p.S499N	p.S499N	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1772	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	499						Missense_Mutation	SNP	ENST00000409307.1	37	c.1496G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688282	0.29962	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.34	4.47	0.54385	Ribonuclease II/R (2);	0.084818	0.85682	D	0.000000	T	0.22085	0.0532	N	0.20685	0.6	0.80722	D	1	B	0.13145	0.007	B	0.18263	0.021	T	0.05784	-1.0864	10	0.17832	T	0.49	-8.9184	10.1977	0.43065	0.1514:0.0:0.8486:0.0	.	499	Q8IYB7	DI3L2_HUMAN	N	499;499;499;499;499;134	ENSP00000273009:S499N;ENSP00000315569:S499N;ENSP00000386799:S499N;ENSP00000415419:S134N	ENSP00000273009:S499N	S	+	2	0	DIS3L2	232836231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.599000	0.67592	1.258000	0.44101	-0.142000	0.14014	AGC		0.512	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		14	25	0	0	0	1	0	14	25				
PLPPR2	64748	broad.mit.edu	37	19	11470258	11470258	+	Silent	SNP	G	G	A	rs145767785		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:11470258G>A	ENST00000251473.5	+	4	493	c.117G>A	c.(115-117)acG>acA	p.T39T	DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TGGAGTTCACGGACACCTTCC	0.622																																						ENST00000251473.5																			0											c.(115-117)acG>acA					,	0,4406		0,0,2203	128.0	95.0	106.0		,117	-10.2	0.7	19	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	LPPR2	NM_001170635.1,NM_022737.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,39/344	11470258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:11470258G>A																												ENST00000251473.5:c.117G>A	19.37:g.11470258G>A						DKFZP761J1410_ENST00000591608.1_Intron|DKFZP761J1410_ENST00000586431.1_3'UTR	p.T39T	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					4	493	+									Silent	SNP	ENST00000251473.5	37	c.117G>A	CCDS12258.1																																																																																				0.622	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			17	18	0	0	0	1	0	17	18				
AHNAK	79026	broad.mit.edu	37	11	62297786	62297786	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:62297786G>T	ENST00000378024.4	-	5	4377	c.4103C>A	c.(4102-4104)gCt>gAt	p.A1368D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1368					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCTGGAGCACTAATGTC	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4102-4104)gCt>gAt		AHNAK nucleoprotein							265.0	263.0	264.0					11																	62297786		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297786G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4103C>A	11.37:g.62297786G>T	ENSP00000367263:p.Ala1368Asp					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1368D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4377	-		Melanoma(852;0.155)	1368					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4103C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	7.136	0.580818	0.13686	.	.	ENSG00000124942	ENST00000378024	T	0.00691	5.84	4.66	1.75	0.24633	.	.	.	.	.	T	0.02119	0.0066	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.48400	0.576	T	0.40739	-0.9547	9	0.25106	T	0.35	.	8.8117	0.34971	0.3178:0.0:0.6822:0.0	.	1368	Q09666	AHNK_HUMAN	D	1368	ENSP00000367263:A1368D	ENSP00000367263:A1368D	A	-	2	0	AHNAK	62054362	0.572000	0.26668	0.005000	0.12908	0.434000	0.31775	0.190000	0.17057	0.163000	0.19507	0.645000	0.84053	GCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	276	1	0	3.59834e-05	1	3.7043e-05	5	276				
ZCCHC14	23174	broad.mit.edu	37	16	87451092	87451092	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:87451092C>T	ENST00000268616.4	-	8	1163	c.946G>A	c.(946-948)Gtc>Atc	p.V316I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	316							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGCTTAAAGACGGGGTAATAC	0.507											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(946-948)Gtc>Atc		zinc finger, CCHC domain containing 14							162.0	169.0	167.0					16																	87451092		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451092C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.946G>A	16.37:g.87451092C>T	ENSP00000268616:p.Val316Ile		OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.V316I	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1163	-			316					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.946G>A	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401248	0.96030	.	.	ENSG00000140948	ENST00000268616	T	0.48522	0.81	6.07	6.07	0.98685	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	N	0.19112	0.55	0.53688	D	0.999979	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.61903	-0.6967	10	0.87932	D	0	-35.5595	20.6439	0.99570	0.0:1.0:0.0:0.0	.	316;316	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	I	316	ENSP00000268616:V316I	ENSP00000268616:V316I	V	-	1	0	ZCCHC14	86008593	1.000000	0.71417	0.972000	0.41901	0.980000	0.70556	7.096000	0.76960	2.884000	0.98904	0.655000	0.94253	GTC		0.507	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		44	75	0	0	0	1	0	44	75				
CTR9	9646	broad.mit.edu	37	11	10800531	10800531	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:10800531C>T	ENST00000361367.2	+	25	3827	c.3401C>T	c.(3400-3402)tCg>tTg	p.S1134L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1134	Ser-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATCACGAATCGGAGAGAGGA	0.507																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(3400-3402)tCg>tTg		CTR9, Paf1/RNA polymerase II complex component							108.0	115.0	112.0					11																	10800531		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10800531C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.3401C>T	11.37:g.10800531C>T	ENSP00000355013:p.Ser1134Leu						p.S1134L	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	25	3827	+			1134			Ser-rich.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.3401C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013961	0.54468	.	.	ENSG00000198730	ENST00000361367	T	0.46063	0.88	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.48234	-0.9053	10	0.44086	T	0.13	-10.3481	19.3906	0.94581	0.0:1.0:0.0:0.0	.	1134	Q6PD62	CTR9_HUMAN	L	1134	ENSP00000355013:S1134L	ENSP00000355013:S1134L	S	+	2	0	CTR9	10757107	1.000000	0.71417	0.536000	0.28039	0.132000	0.20833	7.263000	0.78421	2.591000	0.87537	0.655000	0.94253	TCG		0.507	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		27	52	0	0	0	1	0	27	52				
POMGNT2	84892	broad.mit.edu	37	3	43122910	43122910	+	Missense_Mutation	SNP	G	G	A	rs554958082		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:43122910G>A	ENST00000344697.2	-	2	359	c.14C>T	c.(13-15)gCg>gTg	p.A5V	POMGNT2_ENST00000441964.1_Missense_Mutation_p.A5V	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	5					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GTTGAACACCGCCGAGAGGTG	0.637																																						ENST00000344697.2																			0											c.(13-15)gCg>gTg									13.0	12.0	13.0					3																	43122910		2183	4263	6446	SO:0001583	missense	0							g.chr3:43122910G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.14C>T	3.37:g.43122910G>A	ENSP00000344125:p.Ala5Val					GTDC2_ENST00000441964.1_Missense_Mutation_p.A5V	p.A5V	NM_032806.4	NP_116195.2					2	359	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.14C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033544	0.35893	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.80033	-1.33;-1.33	5.75	5.75	0.90469	.	0.107189	0.64402	D	0.000005	T	0.77525	0.4143	L	0.60455	1.87	0.52099	D	0.999941	P	0.46912	0.886	B	0.35607	0.206	T	0.81929	-0.0708	10	0.87932	D	0	-18.5083	18.9302	0.92561	0.0:0.0:1.0:0.0	.	5	Q8NAT1	AGO61_HUMAN	V	5	ENSP00000408992:A5V;ENSP00000344125:A5V	ENSP00000344125:A5V	A	-	2	0	C3orf39	43097914	1.000000	0.71417	0.107000	0.21349	0.233000	0.25261	9.331000	0.96430	2.714000	0.92807	0.561000	0.74099	GCG		0.637	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		6	5	0	0	0	1	0	6	5				
GPR18	2841	broad.mit.edu	37	13	99907245	99907245	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:99907245C>A	ENST00000340807.3	-	3	1438	c.882G>T	c.(880-882)caG>caT	p.Q294H	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.Q294H|GPR18_ENST00000397473.2_Missense_Mutation_p.Q294H			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	294					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGACTCGAGCCTGAAATTGTT	0.433																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(880-882)caG>caT		G protein-coupled receptor 18	Glycine(DB00145)						156.0	140.0	146.0					13																	99907245		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907245C>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.882G>T	13.37:g.99907245C>A	ENSP00000343428:p.Gln294His					GPR18_ENST00000397470.2_Missense_Mutation_p.Q294H|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.Q294H	p.Q294H			Q14330	GPR18_HUMAN			3	1438	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		294					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.882G>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493390	0.64186	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38077	1.16;1.16;1.16	5.97	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	N	0.24115	0.695	0.52099	D	0.999947	D	0.89917	1.0	D	0.83275	0.996	T	0.05533	-1.0879	9	.	.	.	-17.1652	9.6082	0.39645	0.0:0.5625:0.0:0.4375	.	294	Q14330	GPR18_HUMAN	H	294	ENSP00000380613:Q294H;ENSP00000380610:Q294H;ENSP00000343428:Q294H	.	Q	-	3	2	GPR18	98705246	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.012000	0.49575	0.086000	0.17137	0.655000	0.94253	CAG		0.433	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			24	39	1	0	2.89027e-11	1	3.10618e-11	24	39				
SEL1L3	23231	broad.mit.edu	37	4	25823678	25823678	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:25823678G>A	ENST00000399878.3	-	7	1352	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	SEL1L3_ENST00000264868.5_Silent_p.G375G|SEL1L3_ENST00000502949.1_Silent_p.G257G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	410						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCCTTCAATGCCAGCCACAT	0.507																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1228-1230)ggC>ggT		sel-1 suppressor of lin-12-like 3 (C. elegans)							56.0	57.0	57.0					4																	25823678		1912	4131	6043	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25823678G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1230C>T	4.37:g.25823678G>A						SEL1L3_ENST00000264868.5_Silent_p.G375G|SEL1L3_ENST00000502949.1_Silent_p.G257G	p.G410G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			7	1352	-			410					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	ENST00000399878.3	37	c.1230C>T	CCDS47037.1																																																																																				0.507	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		20	20	0	0	0	1	0	20	20				
ANKDD1A	348094	broad.mit.edu	37	15	65242086	65242086	+	Missense_Mutation	SNP	G	G	A	rs534249413		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:65242086G>A	ENST00000380230.3	+	14	1405	c.1376G>A	c.(1375-1377)gGc>gAc	p.G459D	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G427D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G459D|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G336D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	459	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGAGCACGGCCACCGAATG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1375-1377)gGc>gAc		ankyrin repeat and death domain containing 1A							69.0	67.0	67.0					15																	65242086		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65242086G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1376G>A	15.37:g.65242086G>A	ENSP00000369579:p.Gly459Asp					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G336D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G427D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G459D	p.G459D	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			14	1405	+			459			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1376G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239351	0.79800	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.96	4.05	0.47172	Death (2);DEATH-like (2);	0.000000	0.64402	D	0.000009	D	0.91192	0.7225	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.91264	0.5039	10	0.52906	T	0.07	-19.5031	12.2001	0.54319	0.0826:0.0:0.9174:0.0	.	459	Q495B1	AKD1A_HUMAN	D	459;427;459;336	ENSP00000369579:G459D;ENSP00000350329:G427D;ENSP00000379070:G459D;ENSP00000379073:G336D	ENSP00000350329:G427D	G	+	2	0	ANKDD1A	63029139	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.963000	0.70372	1.340000	0.45581	0.655000	0.94253	GGC		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		25	35	0	0	0	1	0	25	35				
COL25A1	84570	broad.mit.edu	37	4	110223177	110223177	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:110223177G>A	ENST00000399132.1	-	0	529				COL25A1_ENST00000399127.1_De_novo_Start_InFrame|COL25A1_ENST00000399126.1_De_novo_Start_InFrame|AC004051.2_ENST00000500526.1_lincRNA	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAGCAGCATCGTGGCGGGGTC	0.602																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49								collagen, type XXV, alpha 1							22.0	24.0	23.0					4																	110223177		1937	4123	6060			84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110223177G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039		4.37:g.110223177G>A						COL25A1_ENST00000399127.1_De_novo_Start_InFrame|COL25A1_ENST00000399126.1_De_novo_Start_InFrame		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	0	529	-		Hepatocellular(203;0.217)							Translation_Start_Site	SNP	ENST00000399132.1	37		CCDS43258.1																																																																																				0.602	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		16	17	0	0	0	1	0	16	17				
ALKBH1	8846	broad.mit.edu	37	14	78161199	78161199	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:78161199G>A	ENST00000216489.3	-	3	352	c.337C>T	c.(337-339)Cac>Tac	p.H113Y	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	113					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTCACCCAGTGCCACTGGTAA	0.418																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(337-339)Cac>Tac		alkB, alkylation repair homolog 1 (E. coli)							91.0	90.0	90.0					14																	78161199		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78161199G>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.337C>T	14.37:g.78161199G>A	ENSP00000216489:p.His113Tyr					ALKBH1_ENST00000554097.1_5'UTR	p.H113Y	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	3	352	-			113					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.337C>T	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753060	0.15778	.	.	ENSG00000100601	ENST00000216489	T	0.11277	2.79	6.17	6.17	0.99709	.	0.090436	0.85682	D	0.000000	T	0.13756	0.0333	N	0.16066	0.365	0.53005	D	0.999962	D	0.61080	0.989	P	0.57620	0.824	T	0.02774	-1.1112	10	0.02654	T	1	-12.6784	20.8794	0.99867	0.0:0.0:1.0:0.0	.	113	Q13686	ALKB1_HUMAN	Y	113	ENSP00000216489:H113Y	ENSP00000216489:H113Y	H	-	1	0	ALKBH1	77230952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.941000	0.99782	0.655000	0.94253	CAC		0.418	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		27	34	0	0	0	1	0	27	34				
GIPC3	126326	broad.mit.edu	37	19	3586531	3586531	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3586531G>T	ENST00000322315.5	+	2	309	c.264G>T	c.(262-264)atG>atT	p.M88I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	88			M -> I (in DFNB15). {ECO:0000269|PubMed:21660509}.							breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTGGACATGCAGAAGCTCC	0.582											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(262-264)atG>atT		GIPC PDZ domain containing family, member 3							64.0	66.0	66.0					19																	3586531		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3586531G>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.264G>T	19.37:g.3586531G>T	ENSP00000319254:p.Met88Ile		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.M88I	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	309	+			88					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.264G>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209729	0.58343	.	.	ENSG00000179855	ENST00000322315	T	0.37058	1.22	3.49	3.49	0.39957	PDZ/DHR/GLGF (1);	0.087175	0.85682	D	0.000000	T	0.40040	0.1101	M	0.74467	2.265	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.47873	-0.9083	10	0.62326	D	0.03	-46.6184	13.7627	0.62977	0.0:0.0:1.0:0.0	.	88	Q8TF64	GIPC3_HUMAN	I	88	ENSP00000319254:M88I	ENSP00000319254:M88I	M	+	3	0	GIPC3	3537531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.920000	0.92779	1.791000	0.52520	0.561000	0.74099	ATG		0.582	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		9	64	1	0	0.0581538	1	0.0584448	9	64				
KIAA2022	340533	broad.mit.edu	37	X	73965443	73965443	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:73965443C>T	ENST00000055682.6	-	2	654	c.43G>A	c.(43-45)Gga>Aga	p.G15R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	15					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTCTCCGTTGGCTGAG	0.363																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(43-45)Gga>Aga		KIAA2022							108.0	91.0	97.0					X																	73965443		2202	4299	6501	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73965443C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.43G>A	X.37:g.73965443C>T	ENSP00000055682:p.Gly15Arg					KIAA2022_ENST00000055682.5_Missense_Mutation_p.G15R	p.G15R			Q5QGS0	K2022_HUMAN			2	694	-			15					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.43G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135568	0.37728	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32753	1.44;1.44	5.68	5.68	0.88126	.	0.193068	0.36628	N	0.002500	T	0.37517	0.1006	N	0.22421	0.69	0.34978	D	0.753825	D	0.69078	0.997	P	0.61477	0.889	T	0.52041	-0.8628	10	0.72032	D	0.01	-9.9041	12.529	0.56104	0.0:0.7724:0.2276:0.0	.	15	Q5QGS0	K2022_HUMAN	R	15	ENSP00000362567:G15R;ENSP00000055682:G15R	ENSP00000055682:G15R	G	-	1	0	KIAA2022	73882168	0.995000	0.38212	0.947000	0.38551	0.864000	0.49448	2.718000	0.47236	2.384000	0.81235	0.594000	0.82650	GGA		0.363	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	3	0	0	0	1	0	18	3				
KIAA0556	23247	broad.mit.edu	37	16	27784466	27784466	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:27784466C>T	ENST00000261588.4	+	23	4264	c.4245C>T	c.(4243-4245)taC>taT	p.Y1415Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1415						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACCCCTACTACATCGGCCTCA	0.473																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(4243-4245)taC>taT		KIAA0556							53.0	50.0	51.0					16																	27784466		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27784466C>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4245C>T	16.37:g.27784466C>T							p.Y1415Y	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			23	4264	+			1415					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.4245C>T	CCDS32415.1																																																																																				0.473	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		5	29	0	0	0	1	0	5	29				
EPHB3	2049	broad.mit.edu	37	3	184297350	184297350	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:184297350C>T	ENST00000330394.2	+	10	2339	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	629					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGATCGACGTGTCCTGCG	0.547																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1885-1887)gaC>gaT		EPH receptor B3							77.0	72.0	73.0					3																	184297350		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297350C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1887C>T	3.37:g.184297350C>T						EIF2B5_ENST00000444495.1_Intron	p.D629D	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		10	2339	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		629					Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1887C>T	CCDS3268.1																																																																																				0.547	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		20	21	0	0	0	1	0	20	21				
CSTF2T	23283	broad.mit.edu	37	10	53459282	53459282	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:53459282C>T	ENST00000331173.4	-	1	73	c.28G>A	c.(28-30)Gca>Aca	p.A10T	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	10					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CGATCCATTGCCGGGTCTCTC	0.537																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(28-30)Gca>Aca		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							95.0	97.0	97.0					10																	53459282		2199	4292	6491	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459282C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.28G>A	10.37:g.53459282C>T	ENSP00000332444:p.Ala10Thr					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.A10T	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	73	-			10					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.28G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616176	0.66672	.	.	ENSG00000177613	ENST00000331173	T	0.74526	-0.85	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	N	0.14661	0.345	0.80722	D	1	B	0.20780	0.048	B	0.26770	0.073	T	0.57860	-0.7738	10	0.39692	T	0.17	-11.4717	16.1932	0.82005	0.0:1.0:0.0:0.0	.	10	Q9H0L4	CSTFT_HUMAN	T	10	ENSP00000332444:A10T	ENSP00000332444:A10T	A	-	1	0	CSTF2T	53129288	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	4.696000	0.61774	2.773000	0.95371	0.585000	0.79938	GCA		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		38	70	0	0	0	1	0	38	70				
CELSR3	1951	broad.mit.edu	37	3	48686637	48686637	+	Missense_Mutation	SNP	G	G	A	rs542163838		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:48686637G>A	ENST00000164024.4	-	17	6764	c.6484C>T	c.(6484-6486)Cgg>Tgg	p.R2162W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2167W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2162					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACACAGCCGCACAGCAGCA	0.622																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6499-6501)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							42.0	43.0	43.0					3																	48686637		2198	4297	6495	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48686637G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6484C>T	3.37:g.48686637G>A	ENSP00000164024:p.Arg2162Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R2162W	p.R2167W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	18	6779	-			2162					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6499C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164083	0.78339	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69926	-0.44;-0.44	5.57	2.64	0.31445	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.78181	0.4243	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80484	-0.1362	9	0.87932	D	0	.	15.2179	0.73285	0.0:0.0:0.5087:0.4913	.	2162;2232	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	W	2162;2167	ENSP00000164024:R2162W;ENSP00000445694:R2167W	ENSP00000164024:R2162W	R	-	1	2	CELSR3	48661641	0.989000	0.36119	0.998000	0.56505	0.990000	0.78478	0.918000	0.28678	0.684000	0.31448	0.467000	0.42956	CGG		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	6	0	0	0	1	0	4	6				
COG6	57511	broad.mit.edu	37	13	40263922	40263922	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:40263922T>C	ENST00000455146.3	+	11	1085	c.1035T>C	c.(1033-1035)gtT>gtC	p.V345V	COG6_ENST00000416691.1_Silent_p.V345V	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	345					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTCAAGAAGTTGTTGGGCATA	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1033-1035)gtT>gtC		component of oligomeric golgi complex 6							78.0	76.0	76.0					13																	40263922		2202	4291	6493	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40263922T>C	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1035T>C	13.37:g.40263922T>C						COG6_ENST00000455146.3_Silent_p.V345V	p.V345V	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	11	1135	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	345					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.1035T>C	CCDS9370.1																																																																																				0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			15	21	0	0	0	1	0	15	21				
ANKRD11	29123	broad.mit.edu	37	16	89348870	89348870	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:89348870G>A	ENST00000301030.4	-	9	4540	c.4080C>T	c.(4078-4080)agC>agT	p.S1360S	ANKRD11_ENST00000378330.2_Silent_p.S1360S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1360	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCGGTCGTGGCTCTTCTTGG	0.567																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4078-4080)agC>agT		ankyrin repeat domain 11							89.0	80.0	83.0					16																	89348870		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348870G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4080C>T	16.37:g.89348870G>A						ANKRD11_ENST00000378330.2_Silent_p.S1360S	p.S1360S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4540	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1360			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4080C>T	CCDS32513.1																																																																																				0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		16	44	0	0	0	1	0	16	44				
POU2F1	5451	broad.mit.edu	37	1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:167367303G>A	ENST00000541643.3	+	12	1295	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.R390H|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1168-1170)cGt>cAt		POU class 2 homeobox 1							116.0	110.0	112.0					1																	167367303		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367303G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1133G>A	1.37:g.167367303G>A	ENSP00000441285:p.Arg378His					POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000367865.1_3'UTR	p.R390H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1404	+			378					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1169G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.865582	0.91511	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T	0.95949	-1.08;-3.86;-1.08;-1.08;-1.08;-1.08;-1.08	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (1);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.96111	3.77	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.984;0.997;0.997;0.995	P;D;D;D;P	0.69654	0.878;0.965;0.943;0.961;0.878	D	0.99029	1.0820	10	0.87932	D	0	.	20.483	0.99199	0.0:0.0:1.0:0.0	.	338;378;390;376;378	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	H	401;338;376;378;378;390;286	ENSP00000356840:R401H;ENSP00000401217:R338H;ENSP00000356839:R376H;ENSP00000414660:R378H;ENSP00000441285:R378H;ENSP00000356836:R390H;ENSP00000415993:R286H	ENSP00000356836:R390H	R	+	2	0	POU2F1	165633927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.836000	0.97738	0.655000	0.94253	CGT		0.463	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	41	0	0	0	1	0	7	41				
PRTG	283659	broad.mit.edu	37	15	55930778	55930778	+	Silent	SNP	G	G	A	rs541283255		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:55930778G>A	ENST00000389286.4	-	14	2468	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGACTACAGGGCTCCAAGGAC	0.353													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15116	0.0		0.0	False		,,,				2504	0.0					ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2419-2421)agC>agT		protogenin							60.0	57.0	58.0					15																	55930778		1844	4091	5935	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55930778G>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2421C>T	15.37:g.55930778G>A							p.S807S	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	14	2468	-			807			Fibronectin type-III 4.			Silent	SNP	ENST00000389286.4	37	c.2421C>T	CCDS42040.1																																																																																				0.353	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		15	23	0	0	0	1	0	15	23				
GABRG1	2565	broad.mit.edu	37	4	46067556	46067556	+	Missense_Mutation	SNP	G	G	A	rs267600168		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:46067556G>A	ENST00000295452.4	-	4	534	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	123					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATTTTAAACGACTGTCAAAC	0.289																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(367-369)Cgt>Tgt		gamma-aminobutyric acid (GABA) A receptor, gamma 1							49.0	49.0	49.0					4																	46067556		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067556G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.367C>T	4.37:g.46067556G>A	ENSP00000295452:p.Arg123Cys						p.R123C	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	534	-			123					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.367C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769612	0.69992	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.82344	-1.6	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96719	0.9531	10	0.87932	D	0	.	17.8218	0.88652	0.0:0.0:1.0:0.0	.	123	Q8N1C3	GBRG1_HUMAN	C	123	ENSP00000295452:R123C	ENSP00000295452:R123C	R	-	1	0	GABRG1	45762313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	2.513000	0.84729	0.508000	0.49915	CGT		0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		10	18	0	0	0	1	0	10	18				
TLL1	7092	broad.mit.edu	37	4	166935682	166935682	+	Missense_Mutation	SNP	G	G	A	rs114287070		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:166935682G>A	ENST00000061240.2	+	8	1659	c.1012G>A	c.(1012-1014)Gca>Aca	p.A338T	TLL1_ENST00000507499.1_Missense_Mutation_p.A338T|TLL1_ENST00000513213.1_Missense_Mutation_p.A338T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	338	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGAGATATCGCACAGGCAAG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18850	0.001		0.0	False		,,,				2504	0.0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1012-1014)Gca>Aca		tolloid-like 1							223.0	192.0	202.0					4																	166935682		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935682G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1012G>A	4.37:g.166935682G>A	ENSP00000061240:p.Ala338Thr					TLL1_ENST00000507499.1_Missense_Mutation_p.A338T|TLL1_ENST00000513213.1_Missense_Mutation_p.A338T	p.A338T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1659	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	338			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1012G>A	CCDS3811.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.05	3.289870	0.59976	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.63744	-0.06;-0.06;-0.06	5.17	4.32	0.51571	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.138031	0.47852	U	0.000206	T	0.54806	0.1881	L	0.46885	1.475	0.80722	D	1	B;B	0.18013	0.025;0.009	B;B	0.13407	0.009;0.003	T	0.54357	-0.8306	10	0.41790	T	0.15	.	13.9454	0.64082	0.0751:0.0:0.9249:0.0	.	338;338	E9PD25;O43897	.;TLL1_HUMAN	T	338	ENSP00000061240:A338T;ENSP00000426082:A338T;ENSP00000422937:A338T	ENSP00000061240:A338T	A	+	1	0	TLL1	167155132	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.474000	0.66781	2.387000	0.81309	0.557000	0.71058	GCA		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			38	59	0	0	0	1	0	38	59				
CPA3	1359	broad.mit.edu	37	3	148601523	148601523	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:148601523T>C	ENST00000296046.3	+	9	954	c.902T>C	c.(901-903)aTc>aCc	p.I301T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	301				I -> T (in Ref. 5; AAB22578). {ECO:0000305}.	angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGGTTTACATCACCTTCCAT	0.433																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(901-903)aTc>aCc		carboxypeptidase A3 (mast cell)							111.0	96.0	101.0					3																	148601523		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148601523T>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.902T>C	3.37:g.148601523T>C	ENSP00000296046:p.Ile301Thr					RP11-680B3.2_ENST00000488190.1_RNA	p.I301T	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		9	954	+			301	I -> T (in Ref. 5; AAB22578).				Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.902T>C	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.583788	0.65992	.	.	ENSG00000163751	ENST00000296046	T	0.13089	2.62	4.77	3.58	0.41010	Peptidase M14, carboxypeptidase A (3);	0.262657	0.37669	N	0.001990	T	0.36276	0.0961	M	0.93106	3.38	0.42916	D	0.99427	P	0.45634	0.863	P	0.52514	0.701	T	0.40459	-0.9562	10	0.72032	D	0.01	.	10.6087	0.45408	0.0:0.0:0.162:0.8379	.	301	P15088	CBPA3_HUMAN	T	301	ENSP00000296046:I301T	ENSP00000296046:I301T	I	+	2	0	CPA3	150084213	0.797000	0.28877	0.945000	0.38365	0.902000	0.53008	4.991000	0.63883	0.830000	0.34757	0.377000	0.23210	ATC		0.433	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		21	36	0	0	0	1	0	21	36				
SIX2	10736	broad.mit.edu	37	2	45236004	45236004	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:45236004C>T	ENST00000303077.6	-	1	565	c.246G>A	c.(244-246)aaG>aaA	p.K82K		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	82					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCTGCAGCTTGGCGTGGT	0.652																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(244-246)aaG>aaA		SIX homeobox 2							71.0	69.0	70.0					2																	45236004		2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236004C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.246G>A	2.37:g.45236004C>T							p.K82K	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	565	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	82					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.246G>A	CCDS1822.1																																																																																				0.652	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			35	43	0	0	0	1	0	35	43				
MDC1	9656	broad.mit.edu	37	6	30680284	30680284	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30680284C>T	ENST00000376406.3	-	5	2082	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.A479T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	479	Required for nuclear localization (NLS1).				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)			breast(2)|kidney(1)|ovary(1)	4						CTAACAAGGGCTCTAATCTTT	0.502								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1435-1437)Gcc>Acc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							160.0	176.0	170.0					6																	30680284		1508	2707	4215	SO:0001583	missense	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.chr6:30680284C>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.1435G>A	6.37:g.30680284C>T	ENSP00000365588:p.Ala479Thr					MDC1_ENST00000376405.2_Missense_Mutation_p.A479T|MDC1-AS1_ENST00000442150.1_RNA	p.A479T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2082	-			479			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1435G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848121	0.17034	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02890	4.2;4.12	2.63	-1.53	0.08611	.	.	.	.	.	T	0.00552	0.0018	N	0.22421	0.69	0.09310	N	1	P;B;B;B	0.37441	0.595;0.057;0.235;0.093	B;B;B;B	0.25140	0.058;0.034;0.026;0.032	T	0.47837	-0.9086	9	0.42905	T	0.14	-2.4007	6.4015	0.21640	0.0:0.4533:0.0:0.5467	.	479;351;479;479	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	T	479;479;479;351	ENSP00000365588:A479T;ENSP00000365587:A479T	ENSP00000365587:A479T	A	-	1	0	MDC1	30788263	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.561000	0.05957	-0.435000	0.07264	-0.258000	0.10820	GCC		0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		36	59	0	0	0	1	0	36	59				
ABCB1	5243	broad.mit.edu	37	7	87133634	87133634	+	Silent	SNP	C	C	A	rs149482536	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:87133634C>A	ENST00000265724.3	-	29	4185	c.3768G>T	c.(3766-3768)acG>acT	p.T1256T	ABCB1_ENST00000543898.1_Silent_p.T1192T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1256	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTGCTGATGCGTGCCATGCT	0.493																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3766-3768)acG>acT		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						160.0	146.0	151.0					7																	87133634		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133634C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3768G>T	7.37:g.87133634C>A						ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T1192T	p.T1256T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			29	4185	-	Esophageal squamous(14;0.00164)		1256			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.3768G>T	CCDS5608.1																																																																																				0.493	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		28	44	1	0	9.93527e-08	1	1.04484e-07	28	44				
SETD7	80854	broad.mit.edu	37	4	140450287	140450287	+	Missense_Mutation	SNP	C	C	T	rs76651232	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:140450287C>T	ENST00000274031.3	-	4	1096	c.460G>A	c.(460-462)Gca>Aca	p.A154T	SETD7_ENST00000506866.2_Missense_Mutation_p.A154T	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	154					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCATAAAGTGCGGTCCTCTCA	0.468													C|||	8	0.00159744	0.0053	0.0	5008	,	,		18380	0.0		0.001	False		,,,				2504	0.0					ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(460-462)Gca>Aca		SET domain containing (lysine methyltransferase) 7		C	THR/ALA	7,4399	11.4+/-27.6	0,7,2196	177.0	167.0	170.0		460	4.1	0.1	4	dbSNP_131	170	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SETD7	NM_030648.2	58	0,14,6489	TT,TC,CC		0.0814,0.1589,0.1076	benign	154/367	140450287	14,12992	2203	4300	6503	SO:0001583	missense	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140450287C>T	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.460G>A	4.37:g.140450287C>T	ENSP00000274031:p.Ala154Thr					SETD7_ENST00000506866.2_Missense_Mutation_p.A154T	p.A154T	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			4	1096	-	all_hematologic(180;0.156)		154					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	c.460G>A	CCDS3748.1	7	0.003205128205128205	6	0.012195121951219513	0	0.0	0	0.0	1	0.0013192612137203166	C	13.36	2.212906	0.39102	0.001589	8.14E-4	ENSG00000145391	ENST00000506866;ENST00000274031	T;T	0.42513	0.97;0.97	5.11	4.13	0.48395	.	0.102840	0.64402	D	0.000003	T	0.23532	0.0569	L	0.39397	1.21	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.05818	-1.0862	10	0.13853	T	0.58	-20.579	12.1289	0.53932	0.0:0.8843:0.0:0.1157	.	154	Q8WTS6	SETD7_HUMAN	T	154	ENSP00000427300:A154T;ENSP00000274031:A154T	ENSP00000274031:A154T	A	-	1	0	SETD7	140669737	1.000000	0.71417	0.085000	0.20634	0.882000	0.50991	4.639000	0.61361	2.386000	0.81285	0.561000	0.74099	GCA		0.468	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		40	44	0	0	0	1	0	40	44				
SGTA	6449	broad.mit.edu	37	19	2762618	2762618	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2762618C>T	ENST00000221566.2	-	7	683	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	174					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACGTGCTTGTTGAGGC	0.632																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(520-522)aaG>aaA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							116.0	113.0	114.0					19																	2762618		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2762618C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.522G>A	19.37:g.2762618C>T							p.K174K	NM_003021.3	NP_003012.1	O43765	SGTA_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)	7	683	-		Hepatocellular(1079;0.137)	174					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.522G>A	CCDS12094.1																																																																																				0.632	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		46	64	0	0	0	1	0	46	64				
GALNT3	2591	broad.mit.edu	37	2	166611442	166611442	+	Splice_Site	SNP	G	G	A	rs144331248	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:166611442G>A	ENST00000392701.3	-	8	2299	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	GALNT3_ENST00000409882.1_Splice_Site_p.Y246Y	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	508	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAATACTCACGTATCCAGATA	0.333													A|||	5	0.000998403	0.0038	0.0	5008	,	,		13971	0.0		0.0	False		,,,				2504	0.0					ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.e8+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)		A		7,4399	824.4+/-416.5	0,7,2196	73.0	72.0	72.0		1524	5.6	1.0	2	dbSNP_134	72	0,8596		0,0,4298	yes	coding-synonymous-near-splice	GALNT3	NM_004482.3		0,7,6494	AA,AG,GG		0.0,0.1589,0.0538		508/634	166611442	7,12995	2203	4298	6501	SO:0001630	splice_region_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611442G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1524+1C>T	2.37:g.166611442G>A						GALNT3_ENST00000409882.1_Splice_Site_p.Y246_splice	p.Y508_splice	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			8	2299	-			508			Ricin B-type lectin.		Q53TG9|Q7Z476	Splice_Site	SNP	ENST00000392701.3	37	c.1524_splice	CCDS2226.1																																																																																				0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	Silent	25	18	0	0	0	1	0	25	18				
C3orf20	84077	broad.mit.edu	37	3	14768435	14768435	+	Missense_Mutation	SNP	G	G	A	rs149516015		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14768435G>A	ENST00000253697.3	+	11	2046	c.1594G>A	c.(1594-1596)Gac>Aac	p.D532N	C3orf20_ENST00000435614.1_Missense_Mutation_p.D410N|C3orf20_ENST00000412910.1_Missense_Mutation_p.D410N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	532						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAACATGGACGACAAGGTGTA	0.527																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1594-1596)Gac>Aac		chromosome 3 open reading frame 20							105.0	94.0	97.0					3																	14768435		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14768435G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1594G>A	3.37:g.14768435G>A	ENSP00000253697:p.Asp532Asn					C3orf20_ENST00000435614.1_Missense_Mutation_p.D410N|C3orf20_ENST00000412910.1_Missense_Mutation_p.D410N	p.D532N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			11	2046	+			532					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.1594G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437693	0.62955	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.11604	2.76;2.76;2.76	5.05	4.18	0.49190	.	0.984841	0.08282	N	0.969728	T	0.20577	0.0495	L	0.44542	1.39	0.09310	N	1	D;B	0.67145	0.996;0.032	P;B	0.57009	0.811;0.011	T	0.16100	-1.0414	10	0.51188	T	0.08	-4.8256	9.5512	0.39310	0.0953:0.0:0.9047:0.0	.	410;532	Q8ND61-2;Q8ND61	.;CC020_HUMAN	N	532;410;410	ENSP00000253697:D532N;ENSP00000402933:D410N;ENSP00000396081:D410N	ENSP00000253697:D532N	D	+	1	0	C3orf20	14743439	0.984000	0.35163	0.037000	0.18230	0.007000	0.05969	2.867000	0.48428	1.376000	0.46267	-0.333000	0.08304	GAC		0.527	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		16	19	0	0	0	1	0	16	19				
SNX20	124460	broad.mit.edu	37	16	50707468	50707468	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:50707468G>A	ENST00000330943.4	-	4	971	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	267					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGCAGAGGCGCATAGTAGCG	0.721																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(799-801)gCg>gTg		sorting nexin 20							21.0	22.0	22.0					16																	50707468		2190	4288	6478	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707468G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.800C>T	16.37:g.50707468G>A	ENSP00000332062:p.Ala267Val					SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	p.A267V	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	971	-			267					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.800C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133206	0.21041	.	.	ENSG00000167208	ENST00000330943	T	0.65732	-0.17	5.89	1.66	0.24008	.	0.673426	0.15324	N	0.268390	T	0.38904	0.1058	N	0.25380	0.74	0.25851	N	0.983931	B	0.18968	0.032	B	0.09377	0.004	T	0.20371	-1.0277	10	0.07990	T	0.79	-17.608	5.2347	0.15441	0.3417:0.1427:0.5156:0.0	.	267	Q7Z614	SNX20_HUMAN	V	267	ENSP00000332062:A267V	ENSP00000332062:A267V	A	-	2	0	SNX20	49264969	0.219000	0.23619	0.869000	0.34112	0.926000	0.56050	1.237000	0.32695	0.379000	0.24794	0.561000	0.74099	GCG		0.721	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		11	14	0	0	0	1	0	11	14				
TBXAS1	6916	broad.mit.edu	37	7	139529239	139529239	+	Missense_Mutation	SNP	C	C	T	rs61733586	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139529239C>T	ENST00000455353.1	+	1	187	c.50C>T	c.(49-51)aCg>aTg	p.T17M	TBXAS1_ENST00000263552.6_Missense_Mutation_p.T18M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000539806.1_Missense_Mutation_p.T18M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.T17M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	17					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCATGGTGACGGTGGCCCTG	0.572																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(52-54)aCg>aTg		thromboxane A synthase 1 (platelet)		C	MET/THR,MET/THR,MET/THR,,MET/THR	7,4399	12.9+/-30.5	0,7,2196	72.0	64.0	66.0		53,53,53,,53	2.4	0.4	7	dbSNP_129	66	0,8600		0,0,4300	yes	missense,missense,missense,intron,missense	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	81,81,81,,81	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign,benign,benign,,benign	18/535,18/535,18/581,,18/461	139529239	7,12999	2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139529239C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.50C>T	7.37:g.139529239C>T	ENSP00000391567:p.Thr17Met					TBXAS1_ENST00000411653.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.T18M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.T18M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.T17M|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000455353.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T17M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.T18M	p.T18M	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			5	591	+	Melanoma(164;0.0142)		17					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.53C>T		.	.	.	.	.	.	.	.	.	.	C	5.672	0.308614	0.10733	0.001589	0.0	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.17	2.41	0.29592	.	0.181999	0.46758	N	0.000278	T	0.15219	0.0367	N	0.14661	0.345	0.29217	N	0.87416	P;B;B;B;B;B	0.41848	0.763;0.05;0.009;0.081;0.25;0.25	B;B;B;B;B;B	0.28638	0.092;0.01;0.003;0.013;0.064;0.064	T	0.10042	-1.0647	10	0.46703	T	0.11	.	7.5495	0.27788	0.0:0.7349:0.0:0.2651	rs61733586	18;18;18;18;18;17	B7Z6W1;E7EP08;B4E0M5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	M	18;17;17;18;18;18;17;17;17;17;18	ENSP00000263552:T18M;ENSP00000388612:T17M;ENSP00000338087:T17M;ENSP00000389414:T18M;ENSP00000392361:T18M;ENSP00000392702:T18M;ENSP00000402536:T17M;ENSP00000391567:T17M;ENSP00000411274:T17M;ENSP00000411326:T17M;ENSP00000444626:T18M	ENSP00000263552:T18M	T	+	2	0	TBXAS1	139175708	0.175000	0.23083	0.362000	0.25862	0.167000	0.22549	0.399000	0.20916	0.344000	0.23847	-0.827000	0.03088	ACG		0.572	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			13	9	0	0	0	1	0	13	9				
ZNF286B	729288	broad.mit.edu	37	17	18566140	18566140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18566140G>A	ENST00000545289.1	-	5	929	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TTTGATTTTTGTTTCAAGCTT	0.343																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(679-681)Caa>Taa		zinc finger protein 286B							7.0	6.0	6.0					17																	18566140		677	1537	2214	SO:0001587	stop_gained	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566140G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.679C>T	17.37:g.18566140G>A	ENSP00000461413:p.Gln227*						p.Q227*	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	929	-			227						Nonsense_Mutation	SNP	ENST00000545289.1	37	c.679C>T	CCDS58523.1																																																																																				0.343	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		16	10	0	0	0	1	0	16	10				
OR13A1	79290	broad.mit.edu	37	10	45799447	45799447	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45799447C>T	ENST00000553795.1	-	4	732	c.424G>A	c.(424-426)Gca>Aca	p.A142T	OR13A1_ENST00000536058.1_Missense_Mutation_p.A142T|OR13A1_ENST00000374401.2_Missense_Mutation_p.A142T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGATGGCTGCGTACCGGTCA	0.627																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(424-426)Gca>Aca		olfactory receptor, family 13, subfamily A, member 1							33.0	27.0	29.0					10																	45799447		2202	4300	6502	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799447C>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.424G>A	10.37:g.45799447C>T	ENSP00000451950:p.Ala142Thr					OR13A1_ENST00000536058.1_Missense_Mutation_p.A142T|OR13A1_ENST00000374401.2_Missense_Mutation_p.A142T	p.A142T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	732	-			142					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.424G>A	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.072443	0.36566	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00402	7.56;7.56;7.56	5.78	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.826175	0.10381	N	0.681565	T	0.00271	0.0008	N	0.20483	0.58	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.42378	-0.9455	10	0.59425	D	0.04	-38.0871	7.2698	0.26250	0.0:0.7029:0.1404:0.1566	.	142	Q8NGR1	O13A1_HUMAN	T	142	ENSP00000451950:A142T;ENSP00000438657:A142T;ENSP00000363522:A142T	ENSP00000311379:A142T	A	-	1	0	OR13A1	45119453	0.011000	0.17503	0.004000	0.12327	0.719000	0.41307	1.012000	0.29924	0.800000	0.34041	-0.143000	0.13931	GCA		0.627	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		5	9	0	0	0	1	0	5	9				
MYBBP1A	10514	broad.mit.edu	37	17	4455264	4455264	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:4455264C>T	ENST00000254718.4	-	8	1240	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A312T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	312	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGGGCAGGGCCGCGCCCAGC	0.637																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(934-936)Gcc>Acc		MYB binding protein (P160) 1a							79.0	78.0	78.0					17																	4455264		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455264C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.934G>A	17.37:g.4455264C>T	ENSP00000254718:p.Ala312Thr					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A312T	p.A312T			Q9BQG0	MBB1A_HUMAN			8	1240	-			312			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.934G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	c	11.79	1.744849	0.30865	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.42131	0.98;0.98	5.12	3.06	0.35304	Armadillo-type fold (1);	0.446395	0.25535	N	0.030011	T	0.49184	0.1542	L	0.59436	1.845	0.20196	N	0.999924	P;P	0.48230	0.907;0.887	P;P	0.54460	0.753;0.638	T	0.35871	-0.9771	10	0.25106	T	0.35	-17.9606	11.2553	0.49050	0.3446:0.6554:0.0:0.0	.	312;312	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	T	312	ENSP00000370968:A312T;ENSP00000254718:A312T	ENSP00000254718:A312T	A	-	1	0	MYBBP1A	4402013	0.220000	0.23631	0.536000	0.28039	0.230000	0.25150	0.744000	0.26245	0.679000	0.31345	0.457000	0.33378	GCC		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	37	0	0	0	1	0	28	37				
DSTYK	25778	broad.mit.edu	37	1	205116859	205116859	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:205116859G>A	ENST00000367162.3	-	13	2647	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	DSTYK_ENST00000367160.4_Missense_Mutation_p.R532C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R828C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ACAGGAAGACGTTCTGGGCGA	0.552																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2617-2619)Cgt>Tgt		dual serine/threonine and tyrosine protein kinase							82.0	84.0	83.0					1																	205116859		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205116859G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2617C>T	1.37:g.205116859G>A	ENSP00000356130:p.Arg873Cys					DSTYK_ENST00000367160.4_Missense_Mutation_p.R532C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R828C	p.R873C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			13	2647	-			873			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2617C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373534	0.82573	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.66099	-0.19;1.96;-0.19	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.39692	1.235	0.47123	D	0.999323	D;D	0.61697	0.99;0.979	P;P	0.56612	0.802;0.779	T	0.68834	-0.5304	10	0.66056	D	0.02	-15.6032	14.4756	0.67544	0.0:0.0:0.8529:0.1471	.	828;873	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	532;828;873	ENSP00000356128:R532C;ENSP00000356129:R828C;ENSP00000356130:R873C	ENSP00000356128:R532C	R	-	1	0	DSTYK	203383482	1.000000	0.71417	0.790000	0.31976	0.949000	0.60115	6.129000	0.71657	2.739000	0.93911	0.655000	0.94253	CGT		0.552	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		38	49	0	0	0	1	0	38	49				
FADS1	3992	broad.mit.edu	37	11	61570338	61570338	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61570338C>T	ENST00000350997.7	-	11	1621	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.L322L|FADS1_ENST00000542506.1_Silent_p.L322L|FADS1_ENST00000460649.1_Silent_p.L108L|FADS1_ENST00000536991.1_Silent_p.L154L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	406					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGGCACACAAGGACTGCA	0.542																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1387-1389)ttG>ttA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						107.0	107.0	107.0					11																	61570338		2113	4247	6360	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570338C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1389G>A	11.37:g.61570338C>T						FADS1_ENST00000460649.1_Silent_p.L108L|FADS1_ENST00000536991.1_Silent_p.L154L|FADS1_ENST00000433932.1_Silent_p.L322L|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.L322L	p.L463L	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			11	1621	-			406					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1389G>A	CCDS8011.2																																																																																				0.542	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	37	0	0	0	1	0	10	37				
RASSF8	11228	broad.mit.edu	37	12	26217739	26217739	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:26217739G>T	ENST00000405154.2	+	3	611	c.412G>T	c.(412-414)Gga>Tga	p.G138*	RASSF8_ENST00000282884.9_Nonsense_Mutation_p.G138*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.G138*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	138					signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AGGTGCCAAAGGATTAATGGA	0.413																																						ENST00000405154.2																			0				cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25						c.(412-414)Gga>Tga		Ras association (RalGDS/AF-6) domain family (N-terminal) member 8							79.0	80.0	80.0					12																	26217739		2203	4300	6503	SO:0001587	stop_gained	11228				signal transduction			g.chr12:26217739G>T	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.412G>T	12.37:g.26217739G>T	ENSP00000384491:p.Gly138*					RASSF8_ENST00000381352.3_Nonsense_Mutation_p.G138*|RASSF8_ENST00000542865.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.G138*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.G138*	p.G138*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN			3	611	+	Colorectal(261;0.0847)		138					A8K1Z0|O95647|Q5SCI2|Q76KB6	Nonsense_Mutation	SNP	ENST00000405154.2	37	c.412G>T	CCDS53765.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517654	0.96416	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000542004;ENST00000541218;ENST00000282884;ENST00000545413	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-20.4804	17.4925	0.87708	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000282884:G138X	G	+	1	0	RASSF8	26109006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.798000	0.69095	2.451000	0.82905	0.655000	0.94253	GGA		0.413	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		35	64	1	0	1.30293e-26	1	1.45635e-26	35	64				
KISS1	3814	broad.mit.edu	37	1	204161932	204161932	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:204161932C>T	ENST00000367194.4	-	2	221	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	25					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		ACAGAGGCCACCTTTTCTAAT	0.507																																						ENST00000367194.4																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(73-75)Gtg>Atg		KiSS-1 metastasis-suppressor							33.0	34.0	34.0					1																	204161932		1847	4100	5947	SO:0001583	missense	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204161932C>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.73G>A	1.37:g.204161932C>T	ENSP00000356162:p.Val25Met						p.V25M	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	2	221	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	25					A8K6N0|Q9HBP1	Missense_Mutation	SNP	ENST00000367194.4	37	c.73G>A	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049235	0.19827	.	.	ENSG00000170498	ENST00000367194	T	0.72615	-0.67	5.67	1.34	0.21922	.	0.545454	0.15138	N	0.278448	T	0.49184	0.1542	L	0.28115	0.83	0.09310	N	1	B	0.33807	0.426	B	0.31101	0.124	T	0.35649	-0.9780	10	0.40728	T	0.16	-17.1795	3.3254	0.07064	0.1965:0.5087:0.0:0.2947	.	25	Q15726	KISS1_HUMAN	M	25	ENSP00000356162:V25M	ENSP00000356162:V25M	V	-	1	0	KISS1	202428555	0.000000	0.05858	0.012000	0.15200	0.131000	0.20780	-0.430000	0.06973	0.737000	0.32582	0.603000	0.83216	GTG		0.507	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		6	7	0	0	0	1	0	6	7				
AK1	203	broad.mit.edu	37	9	130634180	130634180	+	Silent	SNP	G	G	A	rs73669436	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130634180G>A	ENST00000373176.1	-	5	398	c.246C>T	c.(244-246)gcC>gcT	p.A82A	AK1_ENST00000373156.1_Silent_p.A82A|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.A98A|MIR4672_ENST00000583126.1_RNA	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TATTGACTTTGGCCACCATGG	0.587																																						ENST00000373176.1																			0				endometrium(1)|prostate(1)	2						c.(244-246)gcC>gcT		adenylate kinase 1							138.0	120.0	126.0					9																	130634180		2203	4300	6503	SO:0001819	synonymous_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130634180G>A	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.246C>T	9.37:g.130634180G>A						AK1_ENST00000373156.1_Silent_p.A82A|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.A98A	p.A82A	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN			5	398	-			82						Silent	SNP	ENST00000373176.1	37	c.246C>T	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814847	0.32053	.	.	ENSG00000106992	ENST00000413016	.	.	.	4.78	2.86	0.33363	.	.	.	.	.	T	0.59169	0.2174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55673	-0.8104	4	.	.	.	-15.1596	9.7774	0.40628	0.0836:0.1439:0.7726:0.0	.	.	.	.	L	23	.	.	P	-	2	0	AK1	129674001	1.000000	0.71417	0.996000	0.52242	0.572000	0.35998	5.039000	0.64185	1.096000	0.41439	0.555000	0.69702	CCA		0.587	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1			6	15	0	0	0	1	0	6	15				
HACE1	57531	broad.mit.edu	37	6	105231961	105231961	+	Splice_Site	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:105231961C>A	ENST00000262903.4	-	14	1842	c.1566G>T	c.(1564-1566)caG>caT	p.Q522H	HACE1_ENST00000517995.1_5'Flank|HACE1_ENST00000369125.2_Splice_Site_p.Q522H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	522					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAATTTCTACCTGTGCTTTTA	0.269																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.e14+1		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							38.0	41.0	40.0					6																	105231961		2191	4273	6464	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105231961C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1566+1G>T	6.37:g.105231961C>A						HACE1_ENST00000369125.2_Splice_Site_p.Q522_splice	p.Q522_splice	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	14	1842	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	522					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	c.1566_splice	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.385698|4.385698	0.82792|0.82792	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503|ENST00000262903;ENST00000369125	.|T;T	.|0.41758	.|1.1;0.99	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42562|0.42562	0.1208|0.1208	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.53151	.|0.707;0.93;0.958	.|B;P;P	.|0.58873	.|0.343;0.707;0.847	T|T	0.13791|0.13791	-1.0496|-1.0496	5|9	.|.	.|.	.|.	.|.	13.7538|13.7538	0.62923|0.62923	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|522;522;175	.|E9PGP0;Q8IYU2;Q8IYU2-3	.|.;HACE1_HUMAN;.	S|H	5|522	.|ENSP00000262903:Q522H;ENSP00000358121:Q522H	.|.	A|Q	-|-	1|3	0|2	HACE1|HACE1	105338654|105338654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.577000|4.577000	0.60922|0.60922	2.676000|2.676000	0.91093|0.91093	0.484000|0.484000	0.47621|0.47621	GCC|CAG		0.269	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation	7	19	1	0	0.000157383	1	0.000161063	7	19				
COL11A1	1301	broad.mit.edu	37	1	103428213	103428213	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:103428213G>A	ENST00000370096.3	-	39	3332	c.3020C>T	c.(3019-3021)gCa>gTa	p.A1007V	COL11A1_ENST00000512756.1_Missense_Mutation_p.A891V|COL11A1_ENST00000353414.4_Missense_Mutation_p.A968V|COL11A1_ENST00000358392.2_Missense_Mutation_p.A1019V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1007	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTACCTTTGCACCTTCTTT	0.463																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3055-3057)gCa>gTa		collagen, type XI, alpha 1							92.0	90.0	91.0					1																	103428213		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428213G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3020C>T	1.37:g.103428213G>A	ENSP00000359114:p.Ala1007Val					COL11A1_ENST00000353414.4_Missense_Mutation_p.A968V|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1007V|COL11A1_ENST00000512756.1_Missense_Mutation_p.A891V	p.A1019V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3373	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1007			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3056C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401906	0.83120	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.67	5.67	0.87782	.	0.058294	0.64402	D	0.000002	D	0.93785	0.8013	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.71674	0.993;0.996;0.998;0.993;0.996	D;D;D;D;D	0.80764	0.956;0.99;0.994;0.978;0.98	D	0.93505	0.6848	10	0.45353	T	0.12	.	19.7741	0.96385	0.0:0.0:1.0:0.0	.	891;968;1019;1007;227	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1007;1019;968;227;891	ENSP00000359114:A1007V;ENSP00000351163:A1019V;ENSP00000302551:A968V;ENSP00000426533:A891V	ENSP00000302551:A968V	A	-	2	0	COL11A1	103200801	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.602000	0.74141	2.673000	0.90976	0.557000	0.71058	GCA		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	20	0	0	0	1	0	15	20				
ERN1	2081	broad.mit.edu	37	17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62125289G>A	ENST00000433197.3	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2458-2460)Cgc>Tgc		endoplasmic reticulum to nucleus signaling 1							88.0	87.0	87.0					17																	62125289		1953	4153	6106	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62125289G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2458C>T	17.37:g.62125289G>A	ENSP00000401445:p.Arg820Cys						p.R820C	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			19	2553	-			820			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2458C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973384	0.74246	.	.	ENSG00000178607	ENST00000433197	D	0.83250	-1.7	5.32	4.29	0.51040	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95864	0.8885	10	0.87932	D	0	-26.1598	15.9033	0.79400	0.0:0.0:0.8646:0.1353	.	820	O75460	ERN1_HUMAN	C	820	ENSP00000401445:R820C	ENSP00000401445:R820C	R	-	1	0	ERN1	59479021	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	3.903000	0.56318	2.648000	0.89879	0.561000	0.74099	CGC		0.468	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		10	25	0	0	0	1	0	10	25				
HGS	9146	broad.mit.edu	37	17	79657240	79657240	+	Silent	SNP	C	C	T	rs577221125		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:79657240C>T	ENST00000329138.4	+	6	579	c.444C>T	c.(442-444)agC>agT	p.S148S		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	148					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCAAAGAGAGCGATGCCATGT	0.622																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(442-444)agC>agT		hepatocyte growth factor-regulated tyrosine kinase substrate							120.0	107.0	111.0					17																	79657240		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79657240C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.444C>T	17.37:g.79657240C>T							p.S148S	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	579	+	all_neural(118;0.0878)|all_lung(278;0.23)		148					Q9NR36	Silent	SNP	ENST00000329138.4	37	c.444C>T	CCDS11784.1																																																																																				0.622	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		25	28	0	0	0	1	0	25	28				
CSPG4	1464	broad.mit.edu	37	15	75982327	75982327	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75982327A>G	ENST00000308508.5	-	3	1171	c.1079T>C	c.(1078-1080)gTc>gCc	p.V360A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	360	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGGCCATTGACACTGAGGTC	0.637																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1078-1080)gTc>gCc		chondroitin sulfate proteoglycan 4							11.0	12.0	12.0					15																	75982327		2174	4255	6429	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982327A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1079T>C	15.37:g.75982327A>G	ENSP00000312506:p.Val360Ala						p.V360A	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1171	-			360			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1079T>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.210406	0.79240	.	.	ENSG00000173546	ENST00000308508	T	0.80393	-1.37	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.820334	0.10725	N	0.641297	T	0.79868	0.4520	L	0.46157	1.445	0.48236	D	0.999619	P	0.49783	0.928	P	0.45610	0.487	T	0.76222	-0.3038	10	0.41790	T	0.15	.	14.3532	0.66719	1.0:0.0:0.0:0.0	.	360	Q6UVK1	CSPG4_HUMAN	A	360	ENSP00000312506:V360A	ENSP00000312506:V360A	V	-	2	0	CSPG4	73769382	1.000000	0.71417	0.565000	0.28409	0.903000	0.53119	8.936000	0.92931	1.993000	0.58246	0.454000	0.30748	GTC		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		6	7	0	0	0	1	0	6	7				
KCNJ12	3768	broad.mit.edu	37	17	21319298	21319298	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:21319298T>C	ENST00000583088.1	+	3	1539	c.644T>C	c.(643-645)gTg>gCg	p.V215A	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V215A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	215					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATGTGGCGTGTGGGTAACCTG	0.652										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(643-645)gTg>gCg		potassium inwardly-rectifying channel, subfamily J, member 12							86.0	72.0	77.0					17																	21319298		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319298T>C	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.644T>C	17.37:g.21319298T>C	ENSP00000463778:p.Val215Ala	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.V215A	p.V215A	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1539	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.644T>C	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343276	0.82022	.	.	ENSG00000184185	ENST00000331718	D	0.96168	-3.93	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98802	1.0740	10	0.87932	D	0	.	15.2805	0.73781	0.0:0.0:0.0:1.0	.	215	Q14500	IRK12_HUMAN	A	215	ENSP00000328150:V215A	ENSP00000328150:V215A	V	+	2	0	KCNJ12	21259891	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.898000	0.87363	2.019000	0.59389	0.533000	0.62120	GTG		0.652	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		6	32	0	0	0	1	0	6	32				
LRRC37A2	474170	broad.mit.edu	37	17	44626527	44626527	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:44626527G>T	ENST00000576629.1	+	10	4517	c.4022G>T	c.(4021-4023)aGg>aTg	p.R1341M	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1341M|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1341						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTCGCAAACAGGCTTCCATTC	0.463																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4021-4023)aGg>aTg		leucine rich repeat containing 37, member A2							29.0	51.0	44.0					17																	44626527		2106	4268	6374	SO:0001583	missense	474170					integral to membrane		g.chr17:44626527G>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4022G>T	17.37:g.44626527G>T	ENSP00000459551:p.Arg1341Met					ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1341M	p.R1341M			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	10	4517	+		Melanoma(429;0.211)	1341					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.4022G>T	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	g	12.95	2.090133	0.36855	.	.	ENSG00000238083	ENST00000333412	T	0.60424	0.19	2.91	1.91	0.25777	.	.	.	.	.	T	0.68091	0.2963	L	0.61218	1.895	0.09310	N	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.75484	0.962;0.983;0.986	T	0.53746	-0.8395	9	0.62326	D	0.03	.	5.9006	0.18964	0.1571:0.0:0.8429:0.0	.	1341;302;1341	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	M	1341	ENSP00000333071:R1341M	ENSP00000333071:R1341M	R	+	2	0	LRRC37A2	41981843	0.012000	0.17670	0.017000	0.16124	0.140000	0.21249	1.763000	0.38461	0.553000	0.29044	0.175000	0.17021	AGG		0.463	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		26	103	1	0	6.05902e-23	1	6.74593e-23	26	103				
ADCK3	56997	broad.mit.edu	37	1	227149094	227149094	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:227149094C>T	ENST00000366779.1	+	7	2779	c.8C>T	c.(7-9)gCc>gTc	p.A3V	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A3V|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	3					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGGATGGCTGCCATATTGGGA	0.607																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(7-9)gCc>gTc		aarF domain containing kinase 3							46.0	47.0	47.0					1																	227149094		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227149094C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.8C>T	1.37:g.227149094C>T	ENSP00000355741:p.Ala3Val					ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366776.1_Missense_Mutation_p.A3V|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A3V|ADCK3_ENST00000366778.1_Intron	p.A3V			Q8NI60	ADCK3_HUMAN			7	2779	+			3					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.8C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457127	0.26161	.	.	ENSG00000163050	ENST00000366779;ENST00000366777;ENST00000366776	T;T;D	0.81659	-0.78;-0.78;-1.52	5.62	4.71	0.59529	.	0.428570	0.23489	N	0.047628	T	0.72875	0.3515	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.69442	-0.5144	10	0.59425	D	0.04	-17.1507	9.5622	0.39376	0.0:0.8381:0.0:0.1619	.	3	Q8NI60	ADCK3_HUMAN	V	3	ENSP00000355741:A3V;ENSP00000355739:A3V;ENSP00000355738:A3V	ENSP00000355738:A3V	A	+	2	0	ADCK3	225215717	0.769000	0.28531	0.995000	0.50966	0.016000	0.09150	0.920000	0.28705	1.365000	0.46057	0.655000	0.94253	GCC		0.607	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		9	58	0	0	0	1	0	9	58				
HSPB8	26353	broad.mit.edu	37	12	119617249	119617249	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:119617249G>A	ENST00000281938.2	+	1	803	c.132G>A	c.(130-132)ttG>ttA	p.L44L	RP11-64B16.4_ENST00000535921.1_RNA|RP11-64B16.3_ENST00000538405.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	44					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACGACTTGACAGCCTCTT	0.682																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(130-132)ttG>ttA		heat shock 22kDa protein 8							103.0	114.0	110.0					12																	119617249		2203	4300	6503	SO:0001819	synonymous_variant	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617249G>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.132G>A	12.37:g.119617249G>A							p.L44L	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			1	803	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		44					B2R6A6|Q6FIH3|Q9UKS3	Silent	SNP	ENST00000281938.2	37	c.132G>A	CCDS9189.1																																																																																				0.682	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		42	76	0	0	0	1	0	42	76				
NRIP1	8204	broad.mit.edu	37	21	16339794	16339794	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:16339794T>C	ENST00000400202.1	-	3	1432	c.720A>G	c.(718-720)ttA>ttG	p.L240L	NRIP1_ENST00000318948.4_Silent_p.L240L|NRIP1_ENST00000400199.1_Silent_p.L240L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	240	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CAACAGCCTGTAATCTTGCAG	0.458																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(718-720)ttA>ttG		nuclear receptor interacting protein 1							202.0	173.0	183.0					21																	16339794		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339794T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.720A>G	21.37:g.16339794T>C						NRIP1_ENST00000400199.1_Silent_p.L240L|NRIP1_ENST00000318948.4_Silent_p.L240L	p.L240L			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1432	-			240			Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.720A>G	CCDS13568.1																																																																																				0.458	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		62	22	0	0	0	1	0	62	22				
OBP2B	29989	broad.mit.edu	37	9	136083896	136083896	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136083896C>A	ENST00000372034.3	-	2	207	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	56					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCGCCCAGGGCTGTCACCTTC	0.617																																						ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(166-168)Gcc>Tcc		odorant binding protein 2B							96.0	88.0	90.0					9																	136083896		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083896C>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.166G>T	9.37:g.136083896C>A	ENSP00000361104:p.Ala56Ser					OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	p.A56S	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	2	207	-			56					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.166G>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151646	0.38021	.	.	ENSG00000171102	ENST00000372034	T	0.08720	3.06	2.31	-0.0417	0.13866	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.734923	0.11686	N	0.539367	T	0.13457	0.0326	M	0.63428	1.95	0.09310	N	0.999999	D	0.54397	0.966	P	0.56343	0.796	T	0.22487	-1.0215	10	0.21540	T	0.41	-12.5258	2.3884	0.04372	0.2922:0.5191:0.0:0.1887	.	56	Q9NPH6	OBP2B_HUMAN	S	56	ENSP00000361104:A56S	ENSP00000361104:A56S	A	-	1	0	OBP2B	135073717	0.000000	0.05858	0.027000	0.17364	0.156000	0.22039	-0.138000	0.10374	0.280000	0.22209	-0.350000	0.07774	GCC		0.617	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		9	7	1	0	2.17888e-05	1	2.24846e-05	9	7				
CTDSPL	10217	broad.mit.edu	37	3	38022319	38022319	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:38022319C>T	ENST00000273179.5	+	8	818	c.792C>T	c.(790-792)gaC>gaT	p.D264D	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Silent_p.D253D	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	264						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GCCGGGAGGACGACGTGTACA	0.622																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(757-759)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							155.0	104.0	121.0					3																	38022319		2203	4300	6503	SO:0001819	synonymous_variant	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38022319C>T	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.792C>T	3.37:g.38022319C>T						CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.D264D	p.D253D	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	7	999	+		Melanoma(1037;0.0122)	264			FCP1 homology.		Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	ENST00000273179.5	37	c.759C>T	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875510	0.17395	.	.	ENSG00000144677	ENST00000436654	.	.	.	5.33	0.0634	0.14348	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-21.1721	2.8383	0.05522	0.1611:0.4031:0.2863:0.1495	.	.	.	.	M	70	.	.	T	+	2	0	CTDSPL	37997323	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	0.141000	0.16076	0.316000	0.23135	-0.137000	0.14449	ACG		0.622	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		10	17	0	0	0	1	0	10	17				
FAM65A	79567	broad.mit.edu	37	16	67577103	67577103	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67577103G>A	ENST00000379312.3	+	13	2547	c.2426G>A	c.(2425-2427)cGt>cAt	p.R809H	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R819H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825H|FAM65A_ENST00000540839.3_Missense_Mutation_p.R825H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R805H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	809						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GATGACTACCGTGGCCAGTTT	0.657																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2473-2475)cGt>cAt		family with sequence similarity 65, member A							15.0	13.0	14.0					16																	67577103		2197	4298	6495	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67577103G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2426G>A	16.37:g.67577103G>A	ENSP00000368614:p.Arg809His					FAM65A_ENST00000428437.2_Missense_Mutation_p.R819H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R805H|FAM65A_ENST00000379312.3_Missense_Mutation_p.R809H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825H	p.R825H			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2694	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	809					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2474G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879495	0.91740	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.50813	0.73;0.73;0.73	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.65975	2.015	0.37606	D	0.920736	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.974	T	0.72587	-0.4248	10	0.62326	D	0.03	-11.5694	16.4509	0.83990	0.0:0.1309:0.8691:0.0	.	819;825;809;825	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	H	809;805;825;819	ENSP00000368614:R809H;ENSP00000042381:R805H;ENSP00000400099:R825H	ENSP00000042381:R805H	R	+	2	0	FAM65A	66134604	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	6.191000	0.72063	2.624000	0.88883	0.555000	0.69702	CGT		0.657	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		5	6	0	0	0	1	0	5	6				
TTN	7273	broad.mit.edu	37	2	179542933	179542933	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179542933G>A	ENST00000591111.1	-	143	33186	c.32962C>T	c.(32962-32964)Cca>Tca	p.P10988S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10061S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11305S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10134	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACCTCTGGCACTTTAAAG	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33913-33915)Cca>Tca		titin							121.0	107.0	111.0					2																	179542933		1810	4081	5891	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542933G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32962C>T	2.37:g.179542933G>A	ENSP00000465570:p.Pro10988Ser					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10988S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10061S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P11305S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		145	34137	-			10988			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33913C>T		.	.	.	.	.	.	.	.	.	.	G	15.41	2.826184	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.69926	-0.44	5.7	5.7	0.88788	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60843	0.2300	M	0.64997	1.995	0.80722	D	1	B;P	0.46142	0.085;0.873	B;B	0.36666	0.133;0.23	T	0.68104	-0.5497	9	0.87932	D	0	.	11.7557	0.51874	0.0:0.1322:0.7308:0.1371	.	10988;10534	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	10061;729	ENSP00000343764:P10061S	ENSP00000343764:P10061S	P	-	1	0	TTN	179251178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.431000	0.44775	2.685000	0.91497	0.650000	0.86243	CCA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	51	0	0	0	1	0	28	51				
ESRRB	2103	broad.mit.edu	37	14	76948992	76948992	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:76948992C>T	ENST00000509242.1	+	6	775	c.677C>T	c.(676-678)gCc>gTc	p.A226V	ESRRB_ENST00000556177.1_Missense_Mutation_p.A226V|ESRRB_ENST00000380887.2_Missense_Mutation_p.A226V|ESRRB_ENST00000261532.7_Missense_Mutation_p.A226V	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	226					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAGCTCTATGCCATGCCTCCC	0.552																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(676-678)gCc>gTc		estrogen-related receptor beta							104.0	84.0	91.0					14																	76948992		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948992C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.677C>T	14.37:g.76948992C>T	ENSP00000422488:p.Ala226Val					ESRRB_ENST00000261532.7_Missense_Mutation_p.A226V|ESRRB_ENST00000509242.1_Missense_Mutation_p.A226V|ESRRB_ENST00000556177.1_Missense_Mutation_p.A226V	p.A226V			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	5	749	+			226					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.677C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385883	0.82902	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.976;0.978	T	0.72377	-0.4312	10	0.30078	T	0.28	.	19.2864	0.94072	0.0:1.0:0.0:0.0	.	226;231	Q5F0P7;E7EWD9	.;.	V	231;226;226;226;226	ENSP00000424992:A231V;ENSP00000422488:A226V;ENSP00000451658:A226V;ENSP00000370270:A226V;ENSP00000261532:A226V	ENSP00000261532:A226V	A	+	2	0	ESRRB	76018745	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.669000	0.83911	2.559000	0.86315	0.655000	0.94253	GCC		0.552	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			10	31	0	0	0	1	0	10	31				
LRRC16A	55604	broad.mit.edu	37	6	25600698	25600698	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:25600698C>T	ENST00000329474.6	+	33	3644	c.3276C>T	c.(3274-3276)ccC>ccT	p.P1092P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1092					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGAAGAACCCTCCTCACCAA	0.498																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3274-3276)ccC>ccT		leucine rich repeat containing 16A							68.0	68.0	68.0					6																	25600698		1906	4107	6013	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25600698C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3276C>T	6.37:g.25600698C>T							p.P1092P	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			33	3644	+			1092					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.3276C>T	CCDS54973.1																																																																																				0.498	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	46	0	0	0	1	0	8	46				
TCERG1	10915	broad.mit.edu	37	5	145834753	145834753	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:145834753C>T	ENST00000296702.5	+	2	232	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P65L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	65	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCACGGCCGCCCTTTGGA	0.597																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(193-195)cCg>cTg		transcription elongation regulator 1							121.0	123.0	122.0					5																	145834753		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145834753C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.194C>T	5.37:g.145834753C>T	ENSP00000296702:p.Pro65Leu					TCERG1_ENST00000394421.2_Missense_Mutation_p.P65L	p.P65L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	232	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	65			Pro-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.194C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732604	0.69189	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.28895	1.59;1.61	5.4	5.4	0.78164	.	0.050510	0.85682	D	0.000000	T	0.45677	0.1354	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.982	T	0.43228	-0.9404	10	0.72032	D	0.01	-4.6859	18.979	0.92748	0.0:1.0:0.0:0.0	.	65;65;65	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	L	65	ENSP00000296702:P65L;ENSP00000377943:P65L	ENSP00000296702:P65L	P	+	2	0	TCERG1	145814946	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.214000	0.77958	2.814000	0.96858	0.563000	0.77884	CCG		0.597	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		41	45	0	0	0	1	0	41	45				
TMEM168	64418	broad.mit.edu	37	7	112412892	112412892	+	Missense_Mutation	SNP	G	G	A	rs150249344	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:112412892G>A	ENST00000312814.6	-	4	2050	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M	TMEM168_ENST00000480969.1_5'Flank|TMEM168_ENST00000454074.1_Missense_Mutation_p.T497M	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	497						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAAAATATACGTATCATGTCT	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18883	0.0		0.0	False		,,,				2504	0.0					ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1489-1491)aCg>aTg		transmembrane protein 168		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	120.0	100.0	107.0		1490	5.0	0.9	7	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TMEM168	NM_022484.4	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	497/698	112412892	4,13002	2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112412892G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1490C>T	7.37:g.112412892G>A	ENSP00000323068:p.Thr497Met					TMEM168_ENST00000454074.1_Missense_Mutation_p.T497M	p.T497M	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			4	2050	-			497					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1490C>T	CCDS5757.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.8	4.575666	0.86645	9.08E-4	0.0	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.59436	1.845	0.80722	D	1	P	0.38020	0.615	B	0.28638	0.092	T	0.58758	-0.7580	9	0.87932	D	0	-1.0148	15.3031	0.73969	0.0672:0.0:0.9328:0.0	.	497	Q9H0V1	TM168_HUMAN	M	497;497;113;113	.	ENSP00000323068:T497M	T	-	2	0	TMEM168	112200128	1.000000	0.71417	0.925000	0.36789	0.972000	0.66771	9.869000	0.99810	1.513000	0.48852	0.655000	0.94253	ACG		0.438	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		28	32	0	0	0	1	0	28	32				
ZZEF1	23140	broad.mit.edu	37	17	3919745	3919745	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:3919745G>T	ENST00000381638.2	-	49	8141	c.8017C>A	c.(8017-8019)Ctc>Atc	p.L2673I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2673							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGCCCTGGAGCACTTTCTGC	0.572																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8017-8019)Ctc>Atc		zinc finger, ZZ-type with EF-hand domain 1							79.0	63.0	68.0					17																	3919745		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3919745G>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8017C>A	17.37:g.3919745G>T	ENSP00000371051:p.Leu2673Ile						p.L2673I	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			49	8141	-			2673					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8017C>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119283	0.94385	.	.	ENSG00000074755	ENST00000381638	T	0.28666	1.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	P	0.39391	0.671	B	0.39660	0.306	T	0.02758	-1.1114	10	0.46703	T	0.11	-13.3348	19.7025	0.96060	0.0:0.0:1.0:0.0	.	2673	O43149	ZZEF1_HUMAN	I	2673	ENSP00000371051:L2673I	ENSP00000371051:L2673I	L	-	1	0	ZZEF1	3866494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.348000	0.73009	2.674000	0.91012	0.650000	0.86243	CTC		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	17	1	0	1.67942e-08	1	1.77343e-08	17	17				
SLC12A4	6560	broad.mit.edu	37	16	67986250	67986250	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67986250G>A	ENST00000316341.3	-	7	894	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	SLC12A4_ENST00000537830.2_Missense_Mutation_p.R246C|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R252C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R221C|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R254C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R204C	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	252					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCATACACACGCATATTGTTC	0.483																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(760-762)Cgt>Tgt		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						216.0	196.0	203.0					16																	67986250		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986250G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.754C>T	16.37:g.67986250G>A	ENSP00000318557:p.Arg252Cys					SLC12A4_ENST00000537830.2_Missense_Mutation_p.R246C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R252C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R204C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R252C|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R221C	p.R254C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	799	-		Ovarian(137;0.192)	252					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.760C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084467	0.55861	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.90844	-2.19;-2.2;-2.2;-2.74;-2.21	4.86	1.41	0.22369	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96728	0.8932	H	0.97732	4.065	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;0.999;1.0;1.0	D	0.97454	1.0030	10	0.87932	D	0	.	14.2567	0.66058	0.0:0.0:0.5285:0.4714	.	254;252;221;246;252;252	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	C	254;221;246;252;252	ENSP00000395983:R254C;ENSP00000438334:R221C;ENSP00000445962:R246C;ENSP00000343374:R252C;ENSP00000318557:R252C	ENSP00000318557:R252C	R	-	1	0	SLC12A4	66543751	1.000000	0.71417	0.986000	0.45419	0.567000	0.35839	2.053000	0.41326	0.529000	0.28599	0.305000	0.20034	CGT		0.483	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		19	33	0	0	0	1	0	19	33				
C17orf74	201243	broad.mit.edu	37	17	7330459	7330459	+	Silent	SNP	T	T	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:7330459T>G	ENST00000333870.3	+	3	1223	c.1149T>G	c.(1147-1149)cgT>cgG	p.R383R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	383						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTGCGGCGTCGGGCAGCTG	0.677																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1147-1149)cgT>cgG		chromosome 17 open reading frame 74							36.0	44.0	42.0					17																	7330459		2116	4227	6343	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330459T>G	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1149T>G	17.37:g.7330459T>G						RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.R383R	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1223	+		Prostate(122;0.157)	383						Silent	SNP	ENST00000333870.3	37	c.1149T>G	CCDS42255.1																																																																																				0.677	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		11	8	0	0	0	1	0	11	8				
RELN	5649	broad.mit.edu	37	7	103143553	103143553	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:103143553C>T	ENST00000428762.1	-	52	8558	c.8399G>A	c.(8398-8400)tGc>tAc	p.C2800Y	RELN_ENST00000424685.2_Missense_Mutation_p.C2800Y|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.C2800Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2800					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTTCCAGAGCATTTTGGGTC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8398-8400)tGc>tAc		reelin							87.0	83.0	84.0					7																	103143553		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103143553C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8399G>A	7.37:g.103143553C>T	ENSP00000392423:p.Cys2800Tyr					RELN_ENST00000343529.5_Missense_Mutation_p.C2800Y|RELN_ENST00000424685.2_Missense_Mutation_p.C2800Y|CTB-107G13.1_ENST00000422488.1_RNA	p.C2800Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	52	8558	-			2800					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8399G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456712	0.84317	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.33216	1.42;1.42;1.42	5.13	5.13	0.70059	Neuraminidase (3);	0.157203	0.56097	D	0.000030	T	0.57036	0.2026	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.989	D;P	0.87578	0.998;0.884	T	0.59600	-0.7424	10	0.56958	D	0.05	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	2800;2800	P78509-2;P78509	.;RELN_HUMAN	Y	2800;2800;2800;317;2800	ENSP00000392423:C2800Y;ENSP00000345694:C2800Y;ENSP00000388446:C2800Y	ENSP00000345694:C2800Y	C	-	2	0	RELN	102930789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.375000	0.81037	0.655000	0.94253	TGC		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	55	0	0	0	1	0	7	55				
MUC5B	727897	broad.mit.edu	37	11	1271758	1271758	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:1271758G>A	ENST00000529681.1	+	31	13706	c.13648G>A	c.(13648-13650)Gcc>Acc	p.A4550T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4553T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4550	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATGTCCACAGCCACACCCTC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13657-13659)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							37.0	64.0	55.0					11																	1271758		1955	4078	6033	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271758G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13648G>A	11.37:g.1271758G>A	ENSP00000436812:p.Ala4550Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4550T	p.A4553T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13715	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4550			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13657G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.939	0.742359	0.15642	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16743	2.32;2.51	2.12	-2.41	0.06562	.	.	.	.	.	T	0.12263	0.0298	L	0.28400	0.85	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.31475	-0.9942	9	0.87932	D	0	.	10.0021	0.41935	0.198:0.0:0.802:0.0	.	5023;4553	A7Y9J9;E9PBJ0	.;.	T	4550;4553;4494;4400;327	ENSP00000436812:A4550T;ENSP00000415793:A4553T	ENSP00000343037:A4494T	A	+	1	0	MUC5B	1228334	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.679000	0.01940	-0.535000	0.06307	0.184000	0.17185	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		43	62	0	0	0	1	0	43	62				
GAK	2580	broad.mit.edu	37	4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:844870G>A	ENST00000314167.4	-	26	3621	c.3511C>T	c.(3511-3513)Caa>Taa	p.Q1171*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.468																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3511-3513)Caa>Taa		cyclin G associated kinase							104.0	101.0	102.0					4																	844870		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:844870G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3511C>T	4.37:g.844870G>A	ENSP00000314499:p.Gln1171*					GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*|GAK_ENST00000509566.1_5'UTR	p.Q1171*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	26	3621	-			1171					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3511C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011060	0.97200	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	.	.	.	5.41	5.41	0.78517	.	0.369220	0.29198	N	0.012844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.3902	16.6821	0.85295	0.0:0.0:1.0:0.0	.	.	.	.	X	447;1171;1092	.	ENSP00000314499:Q1171X	Q	-	1	0	GAK	834870	0.940000	0.31905	0.665000	0.29768	0.915000	0.54546	2.748000	0.47483	2.527000	0.85204	0.655000	0.94253	CAA		0.468	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		30	46	0	0	0	1	0	30	46				
SMURF2	64750	broad.mit.edu	37	17	62582227	62582227	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62582227T>C	ENST00000262435.9	-	6	649	c.462A>G	c.(460-462)ttA>ttG	p.L154L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	154					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CGTTATCAAATAAACGACTGC	0.338																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(460-462)ttA>ttG		SMAD specific E3 ubiquitin protein ligase 2							110.0	119.0	116.0					17																	62582227		2203	4300	6503	SO:0001819	synonymous_variant	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62582227T>C	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.462A>G	17.37:g.62582227T>C						SMURF2_ENST00000578200.1_Intron	p.L154L	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		6	649	-	Breast(5;1.32e-14)		154					Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	c.462A>G	CCDS32707.1																																																																																				0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		37	69	0	0	0	1	0	37	69				
MEX3A	92312	broad.mit.edu	37	1	156046389	156046389	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156046389C>T	ENST00000532414.2	-	2	1538	c.1539G>A	c.(1537-1539)acG>acA	p.T513T	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	513						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGATGGCTTGCGTGGCTGTGA	0.602																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1537-1539)acG>acA		mex-3 RNA binding family member A							54.0	64.0	61.0					1																	156046389		2178	4284	6462	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046389C>T	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1539G>A	1.37:g.156046389C>T							p.T513T	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1538	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		513						Silent	SNP	ENST00000532414.2	37	c.1539G>A	CCDS53377.1																																																																																				0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		12	23	0	0	0	1	0	12	23				
RTN4	57142	broad.mit.edu	37	2	55277340	55277340	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:55277340C>T	ENST00000337526.6	-	1	340	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357376.3_5'Flank|RTN4_ENST00000354474.6_Missense_Mutation_p.D33N|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000402434.2_Missense_Mutation_p.D5N|RTN4_ENST00000317610.7_Missense_Mutation_p.D33N|RTN4_ENST00000357732.4_Missense_Mutation_p.D33N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	33	Poly-Glu.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						tcctcctcgtcctcGGGCTCC	0.667																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(97-99)Gac>Aac		reticulon 4							9.0	13.0	11.0					2																	55277340		2103	4100	6203	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55277340C>T	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.97G>A	2.37:g.55277340C>T	ENSP00000337838:p.Asp33Asn					RTN4_ENST00000394611.2_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Missense_Mutation_p.D33N|RTN4_ENST00000354474.6_Missense_Mutation_p.D33N|RTN4_ENST00000357732.4_Missense_Mutation_p.D33N|RTN4_ENST00000402434.2_Missense_Mutation_p.D5N	p.D33N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			1	340	-			33			Poly-Glu.		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.97G>A	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013644	0.54468	.	.	ENSG00000115310	ENST00000337526;ENST00000317610;ENST00000357732;ENST00000402434;ENST00000354474	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	3.96	3.96	0.45880	.	.	.	.	.	T	0.26882	0.0658	L	0.29908	0.895	0.23095	N	0.998301	P;P;P	0.49961	0.884;0.93;0.761	B;P;B	0.49683	0.414;0.619;0.173	T	0.05852	-1.0860	9	0.46703	T	0.11	-7.9574	11.3597	0.49636	0.0:1.0:0.0:0.0	.	33;33;33	Q7L7Q6;Q9NQC3-5;Q9NQC3	.;.;RTN4_HUMAN	N	33;33;33;5;33	ENSP00000337838:D33N;ENSP00000322147:D33N;ENSP00000350365:D33N;ENSP00000384825:D5N;ENSP00000346465:D33N	ENSP00000322147:D33N	D	-	1	0	RTN4	55130844	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	1.867000	0.39499	2.028000	0.59812	0.563000	0.77884	GAC		0.667	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			3	2	0	0	0	1	0	3	2				
PRKCZ	5590	broad.mit.edu	37	1	2116391	2116391	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:2116391G>A	ENST00000400921.2	+	15	1856	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	PRKCZ_ENST00000479263.1_3'UTR|RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|PRKCZ_ENST00000400920.1_Silent_p.E391E|C1orf86_ENST00000400919.3_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACCAGTCAGAGTTCGAAGGCT	0.577																																						ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(1171-1173)gaG>gaA		protein kinase C, zeta							137.0	118.0	124.0					1																	2116391		2203	4299	6502	SO:0001819	synonymous_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2116391G>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1173G>A	1.37:g.2116391G>A						PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E391E|C1orf86_ENST00000400919.3_3'UTR	p.E391E	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	15	1856	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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)	574			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.1173G>A	CCDS41229.1																																																																																				0.577	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		9	4	0	0	0	1	0	9	4				
GDF3	9573	broad.mit.edu	37	12	7842906	7842906	+	Silent	SNP	G	G	T	rs145601141		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:7842906G>T	ENST00000329913.3	-	2	710	c.663C>A	c.(661-663)acC>acA	p.T221T		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	221					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCTGGCACAGGTGTCTTCAG	0.507																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(661-663)acC>acA		growth differentiation factor 3							93.0	90.0	91.0					12																	7842906		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842906G>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.663C>A	12.37:g.7842906G>T							p.T221T	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	710	-			221					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.663C>A	CCDS8581.1																																																																																				0.507	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			14	43	1	0	1.5842e-08	1	1.67426e-08	14	43				
RBM14	10432	broad.mit.edu	37	11	66392897	66392897	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:66392897G>A	ENST00000310137.4	+	2	1689	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	517	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCCTTACCGCACTCAGTCA	0.657																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1549-1551)cGc>cAc		RNA binding motif protein 14							51.0	45.0	47.0					11																	66392897		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392897G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1550G>A	11.37:g.66392897G>A	ENSP00000311747:p.Arg517His					RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	p.R517H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1689	+			517			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1550G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439440	0.43326	.	.	ENSG00000239306	ENST00000310137	D	0.84070	-1.8	5.75	5.75	0.90469	.	0.056980	0.64402	D	0.000001	D	0.83557	0.5280	N	0.14661	0.345	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	D	0.86150	0.1587	10	0.87932	D	0	-3.8536	15.4418	0.75190	0.0:0.0:1.0:0.0	.	517	Q96PK6	RBM14_HUMAN	H	517	ENSP00000311747:R517H	ENSP00000311747:R517H	R	+	2	0	RBM14	66149473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.014000	0.70784	2.720000	0.93068	0.655000	0.94253	CGC		0.657	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		14	30	0	0	0	1	0	14	30				
NKG7	4818	broad.mit.edu	37	19	51875455	51875455	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51875455G>A	ENST00000221978.5	-	2	443	c.264C>T	c.(262-264)ggC>ggT	p.G88G	NKG7_ENST00000595217.1_Splice_Site_p.G53G|NKG7_ENST00000600427.1_Splice_Site_p.G53G	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	88						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCGGGCCGTGGCCTGGGGGGA	0.622																																						ENST00000595217.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.e2-1		natural killer cell group 7 sequence							88.0	94.0	92.0					19																	51875455		2203	4300	6503	SO:0001819	synonymous_variant	4818					integral to plasma membrane		g.chr19:51875455G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.264C>T	19.37:g.51875455G>A						NKG7_ENST00000221978.5_Silent_p.G88G|NKG7_ENST00000600427.1_Splice_Site_p.G53_splice	p.G53_splice			Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	324	-		all_neural(266;0.0199)	88						Splice_Site	SNP	ENST00000221978.5	37	c.157_splice	CCDS12830.1																																																																																				0.622	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		30	36	0	0	0	1	0	30	36				
AGAP2	116986	broad.mit.edu	37	12	58121147	58121147	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:58121147A>T	ENST00000547588.1	-	17	3075	c.3076T>A	c.(3076-3078)Tcg>Acg	p.S1026T	AGAP2-AS1_ENST00000542466.2_Silent_p.R124R|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.S670T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1026	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTTACCGCGAAGAGTCCCGC	0.672																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(2008-2010)Tcg>Acg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							22.0	22.0	22.0					12																	58121147		2201	4300	6501	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121147A>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.3076T>A	12.37:g.58121147A>T	ENSP00000449241:p.Ser1026Thr					AGAP2_ENST00000547588.1_Missense_Mutation_p.S1026T|AGAP2-AS1_ENST00000542466.2_Silent_p.R124R	p.S670T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			16	2093	-			1026					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2008T>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.690|8.690	0.907240|0.907240	0.17833|0.17833	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.43294	.|0.95;0.95	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.070853	.|0.56097	.|D	.|0.000022	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.17723|0.17723	0.515|0.515	0.46376|0.46376	D|D	0.999018|0.999018	.|B;B;P	.|0.34629	.|0.067;0.405;0.46	.|B;B;B	.|0.39590	.|0.051;0.101;0.304	T|T	0.06144|0.06144	-1.0843|-1.0843	5|10	.|0.08381	.|T	.|0.77	.|.	13.9937|13.9937	0.64382|0.64382	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|670;1026;1026	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	Y|T	869|670;1026	.|ENSP00000257897:S670T;ENSP00000449241:S1026T	.|ENSP00000257897:S670T	F|S	-|-	2|1	0|0	AGAP2|AGAP2	56407414|56407414	0.419000|0.419000	0.25449|0.25449	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	1.304000|1.304000	0.33482|0.33482	2.007000|2.007000	0.58848|0.58848	0.533000|0.533000	0.62120|0.62120	TTC|TCG		0.672	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		5	10	0	0	0	1	0	5	10				
ROBO3	64221	broad.mit.edu	37	11	124743643	124743643	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:124743643G>A	ENST00000397801.1	+	11	1861	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	ROBO3_ENST00000538940.1_Missense_Mutation_p.G535R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	557					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCCCCTCCGGGGGCTCCCTC	0.527																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1669-1671)Ggg>Agg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							34.0	37.0	36.0					11																	124743643		1847	4083	5930	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124743643G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1669G>A	11.37:g.124743643G>A	ENSP00000380903:p.Gly557Arg					ROBO3_ENST00000538940.1_Missense_Mutation_p.G535R	p.G557R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	11	1861	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	557			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1669G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540044	0.45176	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.83837	-1.77;-1.77	5.71	4.78	0.61160	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.172748	0.27631	N	0.018513	D	0.91116	0.7203	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91219	0.5005	10	0.62326	D	0.03	.	9.0224	0.36209	0.0784:0.1503:0.7713:0.0	.	557	Q96MS0	ROBO3_HUMAN	R	557;535	ENSP00000380903:G557R;ENSP00000441797:G535R	ENSP00000380903:G557R	G	+	1	0	ROBO3	124248853	1.000000	0.71417	0.559000	0.28332	0.066000	0.16364	4.864000	0.62990	1.361000	0.45981	0.563000	0.77884	GGG		0.527	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		10	11	0	0	0	1	0	10	11				
GNG2	54331	broad.mit.edu	37	14	52433395	52433395	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52433395C>T	ENST00000335281.4	+	3	612	c.206C>T	c.(205-207)gCc>gTc	p.A69V	GNG2_ENST00000557376.1_Missense_Mutation_p.A108V|GNG2_ENST00000553432.1_Missense_Mutation_p.A100V|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000555472.1_Missense_Mutation_p.A69V|GNG2_ENST00000556752.1_Missense_Mutation_p.A69V|GNG2_ENST00000556766.1_Missense_Mutation_p.A69V|GNG2_ENST00000554736.1_Missense_Mutation_p.A69V|RP11-463J10.3_ENST00000553603.1_RNA	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	69					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TTTTTCTGTGCCATCCTTTAA	0.512																																						ENST00000335281.4																			0				lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(205-207)gCc>gTc		guanine nucleotide binding protein (G protein), gamma 2	Halothane(DB01159)						75.0	82.0	79.0					14																	52433395		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433395C>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.206C>T	14.37:g.52433395C>T	ENSP00000334448:p.Ala69Val					GNG2_ENST00000556766.1_Missense_Mutation_p.A69V|GNG2_ENST00000555472.1_Missense_Mutation_p.A69V|GNG2_ENST00000554736.1_Missense_Mutation_p.A69V|GNG2_ENST00000556752.1_Missense_Mutation_p.A69V|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Missense_Mutation_p.A108V|GNG2_ENST00000553432.1_Missense_Mutation_p.A100V	p.A69V	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN			3	612	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		69					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.206C>T	CCDS32082.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538996	0.65085	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.03	5.03	0.67393	G-protein gamma domain (2);	0.102292	0.64402	D	0.000003	T	0.14270	0.0345	.	.	.	0.80722	D	1	B	0.31752	0.338	B	0.33121	0.158	T	0.09930	-1.0652	9	0.14252	T	0.57	-21.0289	13.1314	0.59385	0.0:0.9135:0.0:0.0865	.	69	P59768	GBG2_HUMAN	V	100;108;69;69;69;69;69	ENSP00000451279:A100V;ENSP00000450758:A108V;ENSP00000334448:A69V;ENSP00000451102:A69V;ENSP00000451231:A69V;ENSP00000452014:A69V;ENSP00000451576:A69V	ENSP00000334448:A69V	A	+	2	0	GNG2	51503145	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.948000	0.63590	2.700000	0.92200	0.591000	0.81541	GCC		0.512	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			30	62	0	0	0	1	0	30	62				
DST	667	broad.mit.edu	37	6	56417320	56417320	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:56417320T>C	ENST00000361203.3	-	57	15644	c.15637A>G	c.(15637-15639)Act>Gct	p.T5213A	DST_ENST00000244364.6_Missense_Mutation_p.T2801A|DST_ENST00000446842.2_Missense_Mutation_p.T4889A|DST_ENST00000370788.2_Missense_Mutation_p.T3127A|DST_ENST00000421834.2_Missense_Mutation_p.T3127A|DST_ENST00000370769.4_Missense_Mutation_p.T5215A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.T5393A			Q03001	DYST_HUMAN	dystonin	5213					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTTTATAGTTTCCTTTTGC	0.418																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(16177-16179)Act>Gct		dystonin							57.0	53.0	54.0					6																	56417320		1867	4088	5955	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417320T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15637A>G	6.37:g.56417320T>C	ENSP00000354508:p.Thr5213Ala					DST_ENST00000370769.4_Missense_Mutation_p.T5215A|DST_ENST00000370788.2_Missense_Mutation_p.T3127A|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.T2801A|DST_ENST00000361203.3_Missense_Mutation_p.T5213A|DST_ENST00000421834.2_Missense_Mutation_p.T3127A|DST_ENST00000446842.2_Missense_Mutation_p.T4889A	p.T5393A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16176	-	Lung NSC(77;0.103)		5213					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16177A>G		.	.	.	.	.	.	.	.	.	.	T	6.022	0.372439	0.11409	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	6.17	2.34	0.29019	.	1.053140	0.07490	N	0.905490	T	0.02047	0.0064	N	0.00483	-1.445	0.22213	N	0.999287	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.42999	-0.9418	9	0.09084	T	0.74	.	6.711	0.23276	0.1293:0.6678:0.0:0.2029	.	3127;5215;5393;5213;2801	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	A	2801;5393;5215;3127;4889;3127;5213	ENSP00000244364:T2801A;ENSP00000359790:T5393A;ENSP00000359805:T5215A;ENSP00000400883:T3127A;ENSP00000393645:T4889A;ENSP00000359824:T3127A;ENSP00000354508:T5213A	ENSP00000244364:T2801A	T	-	1	0	DST	56525279	0.439000	0.25610	0.011000	0.14972	0.967000	0.64934	1.664000	0.37439	0.141000	0.18875	-0.242000	0.12053	ACT		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	32	0	0	0	1	0	11	32				
SOGA3	387104	broad.mit.edu	37	6	127796803	127796803	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:127796803G>A	ENST00000525778.1	-	6	3113	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Missense_Mutation_p.R790C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R790C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R790C|SOGA3_ENST00000481848.2_Missense_Mutation_p.R790C			Q5TF21	SOGA3_HUMAN	SOGA family member 3	790					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R790C(1)									GTGAGGCAGCGGATGTTGCGC	0.701																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.R790C(1)	large_intestine(1)								c.(2368-2370)Cgc>Tgc		SOGA family member 3							21.0	27.0	25.0					6																	127796803		2124	4232	6356	SO:0001583	missense	387104					integral to membrane		g.chr6:127796803G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2368C>T	6.37:g.127796803G>A	ENSP00000434570:p.Arg790Cys					SOGA3_ENST00000481848.2_Missense_Mutation_p.R790C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R790C|SOGA3_ENST00000525778.1_Missense_Mutation_p.R790C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R790C|SOGA3_ENST00000474293.2_5'UTR	p.R790C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3232	-			790						Missense_Mutation	SNP	ENST00000525778.1	37	c.2368C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928261	0.92389	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.43114	-0.9411	10	0.72032	D	0.01	-15.0059	19.4355	0.94792	0.0:0.0:1.0:0.0	.	790	Q5TF21	CF174_HUMAN	C	790	ENSP00000451768:R790C;ENSP00000357251:R790C;ENSP00000434570:R790C;ENSP00000435559:R790C	ENSP00000435559:R790C	R	-	1	0	C6orf174	127838496	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.508000	0.73721	2.593000	0.87608	0.462000	0.41574	CGC		0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		15	28	0	0	0	1	0	15	28				
DDX23	9416	broad.mit.edu	37	12	49226221	49226221	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:49226221A>G	ENST00000308025.3	-	14	2018	c.1939T>C	c.(1939-1941)Tca>Cca	p.S647P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	647					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTGACTCTGACATGAGGAAG	0.557																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1939-1941)Tca>Cca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							90.0	84.0	86.0					12																	49226221		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49226221A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1939T>C	12.37:g.49226221A>G	ENSP00000310723:p.Ser647Pro						p.S647P	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			14	2018	-			647					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1939T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843114	0.32606	.	.	ENSG00000174243	ENST00000308025	T	0.04360	3.64	6.17	5.03	0.67393	.	0.199465	0.45361	D	0.000379	T	0.06826	0.0174	L	0.49126	1.545	0.58432	D	0.999999	B	0.14438	0.01	B	0.17722	0.019	T	0.12604	-1.0541	10	0.51188	T	0.08	-7.4829	11.594	0.50962	0.9297:0.0:0.0702:0.0	.	647	Q9BUQ8	DDX23_HUMAN	P	647	ENSP00000310723:S647P	ENSP00000310723:S647P	S	-	1	0	DDX23	47512488	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.619000	0.67729	1.147000	0.42369	-0.290000	0.09829	TCA		0.557	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		25	46	0	0	0	1	0	25	46				
THEG	51298	broad.mit.edu	37	19	372675	372675	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:372675C>T	ENST00000342640.4	-	5	633	c.591G>A	c.(589-591)ctG>ctA	p.L197L	THEG_ENST00000346878.2_Silent_p.L173L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	197					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TGGGCCGAGACAGTTCCTCCA	0.562																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(589-591)ctG>ctA		theg spermatid protein							143.0	120.0	128.0					19																	372675		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:372675C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.591G>A	19.37:g.372675C>T						THEG_ENST00000346878.2_Silent_p.L173L	p.L197L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_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)	5	633	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	197					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.591G>A	CCDS12025.1																																																																																				0.562	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			7	53	0	0	0	1	0	7	53				
KDM3A	55818	broad.mit.edu	37	2	86716755	86716755	+	Silent	SNP	G	G	A	rs543853687		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86716755G>A	ENST00000409556.1	+	24	3911	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	KDM3A_ENST00000542128.1_Silent_p.T1130T|KDM3A_ENST00000312912.5_Silent_p.T1182T|KDM3A_ENST00000409064.1_Silent_p.T1182T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1182	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAAAGGACACGGAGAAGATAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		23183	0.0		0.0	False		,,,				2504	0.001				NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(3544-3546)acG>acA		lysine (K)-specific demethylase 3A							119.0	110.0	113.0					2																	86716755		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86716755G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3546G>A	2.37:g.86716755G>A						KDM3A_ENST00000409064.1_Silent_p.T1182T|KDM3A_ENST00000312912.5_Silent_p.T1182T|KDM3A_ENST00000542128.1_Silent_p.T1130T	p.T1182T			Q9Y4C1	KDM3A_HUMAN			24	3911	+			1182			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.3546G>A	CCDS1990.1																																																																																				0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		19	67	0	0	0	1	0	19	67				
NUP214	8021	broad.mit.edu	37	9	134004775	134004775	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:134004775G>A	ENST00000359428.5	+	4	647	c.503G>A	c.(502-504)tGt>tAt	p.C168Y	NUP214_ENST00000411637.2_Missense_Mutation_p.C168Y|NUP214_ENST00000451030.1_Missense_Mutation_p.C168Y|RNU6-881P_ENST00000516813.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	168	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGGCAGTTTGTCTGGCTGAT	0.468			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(502-504)tGt>tAt		nucleoporin 214kDa							252.0	189.0	210.0					9																	134004775		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004775G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.503G>A	9.37:g.134004775G>A	ENSP00000352400:p.Cys168Tyr					NUP214_ENST00000451030.1_Missense_Mutation_p.C168Y|NUP214_ENST00000411637.2_Missense_Mutation_p.C168Y	p.C168Y			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	4	647	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	168					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.503G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766948	0.90020	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.94138	-3.36;-3.36;-3.36	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.41712	D	0.000822	D	0.96043	0.8711	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96553	0.9409	10	0.87932	D	0	-6.7692	17.5111	0.87760	0.0:0.0:1.0:0.0	.	168;168	P35658-4;P35658	.;NU214_HUMAN	Y	168	ENSP00000352400:C168Y;ENSP00000396576:C168Y;ENSP00000405014:C168Y	ENSP00000352400:C168Y	C	+	2	0	NUP214	132994596	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.767000	0.91732	2.434000	0.82447	0.655000	0.94253	TGT		0.468	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		32	58	0	0	0	1	0	32	58				
SNIP1	79753	broad.mit.edu	37	1	38005759	38005759	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38005759G>A	ENST00000296215.6	-	3	997	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	309	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTTACTTACCGATATTGAAAG	0.428																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.e3+1		Smad nuclear interacting protein 1							120.0	115.0	117.0					1																	38005759		2203	4300	6503	SO:0001630	splice_region_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38005759G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.926+1C>T	1.37:g.38005759G>A							p.R309_splice	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			3	997	-		Myeloproliferative disorder(586;0.0393)	309			FHA.		Q96SP9|Q9H9T7	Splice_Site	SNP	ENST00000296215.6	37	c.926_splice	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826891	0.71143	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	D	0.87334	-2.24	5.88	2.79	0.32731	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95140	0.8263	10	0.87932	D	0	-19.6379	15.2983	0.73928	0.0:0.0:0.4:0.6	.	309	Q8TAD8	SNIP1_HUMAN	W	309;293	ENSP00000296215:R309W	ENSP00000296215:R309W	R	-	1	2	SNIP1	37778346	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	2.545000	0.45769	0.752000	0.32923	0.655000	0.94253	CGG		0.428	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700	Missense_Mutation	5	98	0	0	0	1	0	5	98				
COL12A1	1303	broad.mit.edu	37	6	75893364	75893364	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:75893364G>A	ENST00000322507.8	-	10	1602	c.1293C>T	c.(1291-1293)tgC>tgT	p.C431C	COL12A1_ENST00000483888.2_Silent_p.C431C|COL12A1_ENST00000416123.2_Silent_p.C431C|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	431					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CACCACGTGAGCATTCTGTAA	0.313																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1291-1293)tgC>tgT		collagen, type XII, alpha 1							67.0	65.0	65.0					6																	75893364		1820	4075	5895	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893364G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1293C>T	6.37:g.75893364G>A						COL12A1_ENST00000483888.2_Silent_p.C431C|COL12A1_ENST00000416123.2_Silent_p.C431C|COL12A1_ENST00000345356.6_Intron	p.C431C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1602	-			431					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1293C>T	CCDS43482.1																																																																																				0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		28	51	0	0	0	1	0	28	51				
EME1	146956	broad.mit.edu	37	17	48456920	48456920	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:48456920G>A	ENST00000338165.4	+	7	1420	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	EME1_ENST00000393271.2_Silent_p.A459A|EME1_ENST00000511648.2_Silent_p.A459A	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	446					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGGCTGAGGCGCCCTTCAAGT	0.547								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(1375-1377)gcG>gcA	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1							60.0	55.0	57.0					17																	48456920		2203	4300	6503	SO:0001819	synonymous_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48456920G>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1338G>A	17.37:g.48456920G>A						EME1_ENST00000338165.4_Silent_p.A446A|EME1_ENST00000511648.2_Silent_p.A459A	p.A459A	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		7	1459	+	Breast(11;5.62e-19)		446					Q96N62	Silent	SNP	ENST00000338165.4	37	c.1377G>A	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805988	0.16467	.	.	ENSG00000154920	ENST00000510246	T	0.34859	1.34	5.91	-10.8	0.00216	.	0.206543	0.40469	N	0.001095	T	0.21962	0.0529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	7	0.21014	T	0.42	-0.3158	7.049	0.25063	0.6329:0.1674:0.1153:0.0844	.	.	.	.	T	258	ENSP00000425567:A258T	ENSP00000425567:A258T	A	+	1	0	EME1	45811919	0.000000	0.05858	0.152000	0.22495	0.813000	0.45954	-1.828000	0.01702	-1.484000	0.01856	-0.302000	0.09304	GCC		0.547	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		4	8	0	0	0	1	0	4	8				
FRY	10129	broad.mit.edu	37	13	32836467	32836467	+	Missense_Mutation	SNP	C	C	T	rs200222242		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:32836467C>T	ENST00000380250.3	+	53	8130	c.7634C>T	c.(7633-7635)cCc>cTc	p.P2545L	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2545						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTCTCTCCCCCTCTGAAGAG	0.423																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7633-7635)cCc>cTc		furry homolog (Drosophila)							70.0	69.0	69.0					13																	32836467		1913	4151	6064	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32836467C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7634C>T	13.37:g.32836467C>T	ENSP00000369600:p.Pro2545Leu						p.P2545L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	53	8130	+		Lung SC(185;0.0271)	2545					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7634C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421537	0.62622	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23147	1.92	6.03	6.03	0.97812	.	0.046990	0.85682	N	0.000000	T	0.52645	0.1747	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.34800	-0.9814	10	0.41790	T	0.15	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	326;2545	Q8NB82;Q5TBA9	.;FRY_HUMAN	L	2545;189	ENSP00000369600:P2545L	ENSP00000369567:P189L	P	+	2	0	FRY	31734467	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.376000	0.66178	2.861000	0.98227	0.655000	0.94253	CCC		0.423	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		18	22	0	0	0	1	0	18	22				
ZNF862	643641	broad.mit.edu	37	7	149558856	149558856	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:149558856C>T	ENST00000223210.4	+	7	2852	c.2607C>T	c.(2605-2607)aaC>aaT	p.N869N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	869					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CAGAGGTGAACGCCACGCTGG	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(2605-2607)aaC>aaT		zinc finger protein 862							31.0	34.0	33.0					7																	149558856		2125	4227	6352	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558856C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2607C>T	7.37:g.149558856C>T							p.N869N	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2852	+			869					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.2607C>T	CCDS47741.1																																																																																				0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		9	5	0	0	0	1	0	9	5				
COL2A1	1280	broad.mit.edu	37	12	48389522	48389522	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:48389522G>A	ENST00000380518.3	-	10	843	c.679C>T	c.(679-681)Cct>Tct	p.P227S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P158S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	227	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ggttcaccaggATTGCCTTGA	0.502																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(679-681)Cct>Tct		collagen, type II, alpha 1	Collagenase(DB00048)						59.0	58.0	58.0					12																	48389522		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48389522G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.679C>T	12.37:g.48389522G>A	ENSP00000369889:p.Pro227Ser					COL2A1_ENST00000337299.6_Missense_Mutation_p.P158S	p.P227S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			10	843	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	227			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.679C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070292	0.76301	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94793	-3.52;-3.52	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.91635	0.993;0.999	D	0.95977	0.8974	10	0.62326	D	0.03	.	17.2315	0.86985	0.0:0.0:1.0:0.0	.	158;227	P02458-1;P02458	.;CO2A1_HUMAN	S	227;158;158	ENSP00000369889:P227S;ENSP00000338213:P158S	ENSP00000338213:P158S	P	-	1	0	COL2A1	46675789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.137000	0.77295	2.793000	0.96121	0.655000	0.94253	CCT		0.502	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		12	12	0	0	0	1	0	12	12				
RPLP0P2	113157	broad.mit.edu	37	11	61405066	61405066	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:61405066G>A	ENST00000496593.1	+	0	1670					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		AGGAAGAGTCGGAGGGAGGAG	0.522																																						ENST00000496593.1																			0																																																			0							g.chr11:61405066G>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405066G>A								NR_002775.2						0	1670	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.522	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		18	19	0	0	0	1	0	18	19				
TDRD1	56165	broad.mit.edu	37	10	115987859	115987859	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:115987859T>C	ENST00000369280.1	+	24	3745	c.3285T>C	c.(3283-3285)ttT>ttC	p.F1095F	TDRD1_ENST00000251864.2_Silent_p.F1171F|TDRD1_ENST00000422662.1_Silent_p.F699F|TDRD1_ENST00000369282.1_Silent_p.F1095F|TDRD1_ENST00000369281.2_Silent_p.F1057F			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1085					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAATAAATTTATTGAAATGA	0.303																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3511-3513)ttT>ttC		tudor domain containing 1							18.0	19.0	19.0					10																	115987859		2172	4276	6448	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115987859T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3285T>C	10.37:g.115987859T>C						TDRD1_ENST00000422662.1_Silent_p.F699F|TDRD1_ENST00000369280.1_Silent_p.F1095F|TDRD1_ENST00000369281.2_Silent_p.F1057F|TDRD1_ENST00000369282.1_Silent_p.F1095F	p.F1171F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	25	3666	+		Colorectal(252;0.172)|Breast(234;0.188)	1171					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.3513T>C																																																																																					0.303	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			6	11	0	0	0	1	0	6	11				
CRY2	1408	broad.mit.edu	37	11	45891993	45891993	+	Missense_Mutation	SNP	C	C	T	rs372919618		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45891993C>T	ENST00000443527.2	+	9	1544	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	CRY2_ENST00000417225.2_Missense_Mutation_p.R426W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	487					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGACTACCCACGGCCCATCGT	0.527																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1522-1524)Cgg>Tgg		cryptochrome 2 (photolyase-like)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	81.0	86.0		1276,1522	3.7	1.0	11		86	0,8598		0,0,4299	no	missense,missense	CRY2	NM_001127457.1,NM_021117.3	101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	426/533,508/615	45891993	1,13003	2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891993C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1522C>T	11.37:g.45891993C>T	ENSP00000406751:p.Arg508Trp					CRY2_ENST00000417225.2_Missense_Mutation_p.R426W	p.R508W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			9	1544	+			487					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1522C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019774	0.75275	2.27E-4	0.0	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	3.65	0.41850	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.109180	0.64402	D	0.000020	T	0.70081	0.3183	M	0.84773	2.715	0.32258	N	0.570493	D;D;D	0.65815	0.991;0.995;0.977	P;P;P	0.58970	0.849;0.849;0.663	T	0.79329	-0.1848	9	0.48119	T	0.1	-29.6091	13.937	0.64032	0.4961:0.5039:0.0:0.0	.	487;508;426	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	W	426;508	.	ENSP00000397419:R426W	R	+	1	2	CRY2	45848569	0.996000	0.38824	0.984000	0.44739	0.995000	0.86356	3.495000	0.53280	1.340000	0.45581	0.655000	0.94253	CGG		0.527	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		10	35	0	0	0	1	0	10	35				
NDUFV3	4731	broad.mit.edu	37	21	44323568	44323568	+	Intron	SNP	C	C	T	rs370855866		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:44323568C>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.T149M|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CGGAAAGTGACGTCGCCTTCG	0.488																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(445-447)aCg>aTg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)	C	,MET/THR	0,4406		0,0,2203	115.0	118.0	117.0		,446	-1.7	0.0	21		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	NDUFV3	NM_001001503.1,NM_021075.3	,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,149/474	44323568	1,13005	2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323568C>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5406C>T	21.37:g.44323568C>T						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.T149M	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	515	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.446C>T	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932899	0.52866	0.0	1.16E-4	ENSG00000160194	ENST00000354250	T	0.41400	1.0	5.21	-1.73	0.08081	.	1.124850	0.06662	N	0.764615	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	P	0.34864	0.473	B	0.24701	0.055	T	0.19582	-1.0301	10	0.72032	D	0.01	0.2371	2.3213	0.04211	0.2186:0.2979:0.3381:0.1454	.	149	P56181-2	.	M	149	ENSP00000346196:T149M	ENSP00000346196:T149M	T	+	2	0	NDUFV3	43196637	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.913000	0.01580	-0.316000	0.08690	-0.136000	0.14681	ACG		0.488	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			53	26	0	0	0	1	0	53	26				
VAV2	7410	broad.mit.edu	37	9	136641200	136641200	+	Silent	SNP	C	C	T	rs150295787		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:136641200C>T	ENST00000371850.3	-	24	1999	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371851.1_Silent_p.P646P	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1936-1938)ccG>ccA		vav 2 guanine nucleotide exchange factor		C	,	1,4405	2.1+/-5.4	0,1,2202	65.0	62.0	63.0		1968,1938	-8.0	0.6	9	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	656/879,646/840	136641200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136641200C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1968G>A	9.37:g.136641200C>T						VAV2_ENST00000406606.3_Silent_p.P646P|VAV2_ENST00000371850.3_Silent_p.P656P	p.P646P			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	22	2263	-			656			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.1938G>A	CCDS48053.1																																																																																				0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			21	26	0	0	0	1	0	21	26				
WDR66	144406	broad.mit.edu	37	12	122394993	122394993	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:122394993G>T	ENST00000288912.4	+	11	2403	c.1549G>T	c.(1549-1551)Ggt>Tgt	p.G517C	WDR66_ENST00000397454.2_Missense_Mutation_p.G517C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	517							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CATTGTCACAGGTGACATTAA	0.373																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1549-1551)Ggt>Tgt		WD repeat domain 66							96.0	89.0	91.0					12																	122394993		1868	4107	5975	SO:0001583	missense	144406						calcium ion binding	g.chr12:122394993G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1549G>T	12.37:g.122394993G>T	ENSP00000288912:p.Gly517Cys					WDR66_ENST00000397454.2_Missense_Mutation_p.G517C	p.G517C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	11	2403	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		517					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.1549G>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956471	0.73902	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.34072	1.38;1.38	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	M	0.84846	2.72	0.58432	D	0.999996	D	0.71674	0.998	D	0.68483	0.958	T	0.68941	-0.5276	10	0.87932	D	0	.	14.5174	0.67827	0.0:0.0:0.8526:0.1473	.	517	Q8TBY9	WDR66_HUMAN	C	517	ENSP00000288912:G517C;ENSP00000380595:G517C	ENSP00000288912:G517C	G	+	1	0	WDR66	120879376	0.999000	0.42202	0.991000	0.47740	0.997000	0.91878	2.889000	0.48601	2.535000	0.85469	0.585000	0.79938	GGT		0.373	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		20	44	1	0	6.44725e-10	1	6.8705e-10	20	44				
XPO7	23039	broad.mit.edu	37	8	21860776	21860776	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:21860776A>G	ENST00000252512.9	+	26	3090	c.2990A>G	c.(2989-2991)aAc>aGc	p.N997S	XPO7_ENST00000433566.4_Missense_Mutation_p.N998S|XPO7_ENST00000434536.1_Missense_Mutation_p.N1006S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	997					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACTGTAGGAACCAGTGGTCT	0.478																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3016-3018)aAc>aGc		exportin 7							106.0	99.0	101.0					8																	21860776		1940	4153	6093	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21860776A>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.2990A>G	8.37:g.21860776A>G	ENSP00000252512:p.Asn997Ser					XPO7_ENST00000252512.9_Missense_Mutation_p.N997S|XPO7_ENST00000433566.4_Missense_Mutation_p.N998S	p.N1006S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	26	3119	+			997					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.3017A>G	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835739	0.71373	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.23552	1.9;1.9;1.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.76170	2.325	0.80722	D	1	P;B;B	0.45986	0.87;0.253;0.253	B;B;B	0.43194	0.411;0.102;0.083	T	0.18524	-1.0334	10	0.10377	T	0.69	-19.1249	15.4546	0.75302	1.0:0.0:0.0:0.0	.	998;1006;997	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	1006;997;998	ENSP00000404853:N1006S;ENSP00000252512:N997S;ENSP00000410249:N998S	ENSP00000252512:N997S	N	+	2	0	XPO7	21916722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.307000	0.78920	2.137000	0.66172	0.533000	0.62120	AAC		0.478	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		4	14	0	0	0	1	0	4	14				
CENPC	1060	broad.mit.edu	37	4	68374560	68374560	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:68374560C>T	ENST00000273853.6	-	10	2126	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	626					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCTTCTTAGCCAAGTCTGCC	0.353																																						ENST00000273853.6																			0											c.(1876-1878)Gct>Act		centromere protein C							86.0	81.0	83.0					4																	68374560		1888	4110	5998	SO:0001583	missense	1060							g.chr4:68374560C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1876G>A	4.37:g.68374560C>T	ENSP00000273853:p.Ala626Thr						p.A626T	NM_001812.2	NP_001803.2					10	2126	-								Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1876G>A	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177357	0.06380	.	.	ENSG00000145241	ENST00000273853	.	.	.	5.1	0.0964	0.14490	.	0.845848	0.10328	N	0.687919	T	0.27559	0.0677	L	0.48642	1.525	0.09310	N	1	B;B	0.24043	0.096;0.02	B;B	0.15052	0.012;0.007	T	0.24621	-1.0155	9	0.14656	T	0.56	-2.2829	3.4628	0.07539	0.1743:0.4393:0.0:0.3864	.	626;626	Q8IW27;Q03188	.;CENPC_HUMAN	T	626	.	ENSP00000273853:A626T	A	-	1	0	CENPC1	68057155	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.473000	0.22132	0.121000	0.18284	-0.142000	0.14014	GCT		0.353	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			16	24	0	0	0	1	0	16	24				
EPHA10	284656	broad.mit.edu	37	1	38227558	38227558	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:38227558C>A	ENST00000373048.4	-	3	368	c.369G>T	c.(367-369)aaG>aaT	p.K123N	EPHA10_ENST00000427468.2_Missense_Mutation_p.K123N|EPHA10_ENST00000319637.6_Missense_Mutation_p.K123N	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	123	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAAGGTCTCCTTGCAGGTAC	0.662																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(367-369)aaG>aaT		EPH receptor A10							82.0	86.0	85.0					1																	38227558		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227558C>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.369G>T	1.37:g.38227558C>A	ENSP00000362139:p.Lys123Asn					EPHA10_ENST00000319637.6_Missense_Mutation_p.K123N|EPHA10_ENST00000427468.2_Missense_Mutation_p.K123N	p.K123N	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	368	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	123					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.369G>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662922	0.67700	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.05649	3.41;3.41;3.41	4.61	3.7	0.42460	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000537	T	0.32133	0.0819	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.39418	-0.9615	10	0.87932	D	0	.	11.8581	0.52451	0.0:0.9146:0.0:0.0854	.	123;123	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	N	123	ENSP00000397746:K123N;ENSP00000362139:K123N;ENSP00000316395:K123N	ENSP00000316395:K123N	K	-	3	2	EPHA10	38000145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.598000	0.36740	1.273000	0.44346	0.549000	0.68633	AAG		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		33	45	1	0	2.66277e-13	1	2.8908e-13	33	45				
ZDHHC8	29801	broad.mit.edu	37	22	20132768	20132768	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:20132768A>G	ENST00000334554.7	+	11	2284	c.2143A>G	c.(2143-2145)Aag>Gag	p.K715E	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.K623E|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	715					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K715*(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCTCAGCTGAAGACTCCCCC	0.632																																						ENST00000334554.7																			1	Substitution - Nonsense(1)	p.K715*(1)	lung(1)	breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(2143-2145)Aag>Gag		zinc finger, DHHC-type containing 8							158.0	162.0	161.0					22																	20132768		2203	4300	6503	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132768A>G	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2143A>G	22.37:g.20132768A>G	ENSP00000334490:p.Lys715Glu					ZDHHC8_ENST00000320602.7_Missense_Mutation_p.K623E|ZDHHC8_ENST00000405930.3_Intron	p.K715E	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			11	2284	+	Colorectal(54;0.0993)		715					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.2143A>G	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.464695	0.63513	.	.	ENSG00000099904	ENST00000334554;ENST00000320602	T;T	0.74421	1.15;-0.84	5.06	5.06	0.68205	.	1.011550	0.07941	N	0.979297	D	0.86669	0.5988	M	0.71036	2.16	0.80722	D	1	D;B	0.67145	0.996;0.164	D;B	0.77557	0.99;0.04	T	0.81066	-0.1101	10	0.72032	D	0.01	.	15.149	0.72681	1.0:0.0:0.0:0.0	.	623;715	Q9ULC8-2;Q9ULC8	.;ZDHC8_HUMAN	E	715;623	ENSP00000334490:K715E;ENSP00000317804:K623E	ENSP00000317804:K623E	K	+	1	0	ZDHHC8	18512768	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.772000	0.75001	2.053000	0.61076	0.451000	0.29950	AAG		0.632	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		72	111	0	0	0	1	0	72	111				
CCDC24	149473	broad.mit.edu	37	1	44457979	44457979	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:44457979G>A	ENST00000372318.3	+	3	393	c.222G>A	c.(220-222)ccG>ccA	p.P74P	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	74										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCACCACCGCCTCTCCTAA	0.642																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(220-222)ccG>ccA		coiled-coil domain containing 24							75.0	88.0	84.0					1																	44457979		2203	4300	6503	SO:0001819	synonymous_variant	149473							g.chr1:44457979G>A		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.222G>A	1.37:g.44457979G>A						SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	p.P74P	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN			3	393	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	74					Q6RWT2	Silent	SNP	ENST00000372318.3	37	c.222G>A	CCDS507.1																																																																																				0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		38	62	0	0	0	1	0	38	62				
HOXB3	3213	broad.mit.edu	37	17	46628488	46628488	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46628488G>A	ENST00000470495.1	-	2	1951	c.504C>T	c.(502-504)agC>agT	p.S168S	HOXB3_ENST00000311626.4_Silent_p.S168S|HOXB3_ENST00000489475.1_Silent_p.S95S|HOXB3_ENST00000476342.1_Silent_p.S168S|HOXB3_ENST00000472863.1_Silent_p.S95S|HOXB3_ENST00000490677.1_Silent_p.S34S|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.S36S|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Silent_p.S36S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Silent_p.S168S			P14651	HXB3_HUMAN	homeobox B3	168	Gly-rich.				angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						caccgcccccgctgccaccac	0.751																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(502-504)agC>agT		homeobox B3							6.0	9.0	8.0					17																	46628488		1034	2273	3307	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628488G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.504C>T	17.37:g.46628488G>A						HOXB3_ENST00000490677.1_Silent_p.S34S|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.S168S|HOXB3_ENST00000311626.4_Silent_p.S168S|HOXB3_ENST00000476342.1_Silent_p.S168S|HOXB3_ENST00000489475.1_Silent_p.S95S|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.S36S|HOXB3_ENST00000472863.1_Silent_p.S95S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.S36S	p.S168S			P14651	HXB3_HUMAN			2	1951	-			168			Gly-rich.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.504C>T	CCDS11528.1																																																																																				0.751	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	7	0	0	0	1	0	9	7				
ANKS1B	56899	broad.mit.edu	37	12	100219106	100219106	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:100219106C>T	ENST00000547776.2	-	2	195	c.196G>A	c.(196-198)Gca>Aca	p.A66T	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A66T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	66						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTAAGGCTGCGTGGTGTAAA	0.438																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(196-198)Gca>Aca		ankyrin repeat and sterile alpha motif domain containing 1B							73.0	70.0	71.0					12																	100219106		1976	4171	6147	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100219106C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.196G>A	12.37:g.100219106C>T	ENSP00000449629:p.Ala66Thr					ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.A66T	p.A66T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	2	195	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	66					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.196G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057611	0.93846	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	D;D;D	0.87571	-1.56;-1.56;-2.27	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.96087	0.8725	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97451	1.0028	9	.	.	.	-11.3052	17.1826	0.86858	0.0:1.0:0.0:0.0	.	66;66	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	T	66	ENSP00000449629:A66T;ENSP00000331381:A66T;ENSP00000449894:A66T	.	A	-	1	0	ANKS1B	98743237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.425000	0.73370	2.588000	0.87417	0.655000	0.94253	GCA		0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	16	0	0	0	1	0	9	16				
KLK12	43849	broad.mit.edu	37	19	51535246	51535246	+	Missense_Mutation	SNP	G	G	A	rs376059650		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:51535246G>A	ENST00000525263.1	-	3	462	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KLK12_ENST00000319590.4_Missense_Mutation_p.R115C|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.R115C|KLK12_ENST00000250352.11_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	115	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACGGGCAGGCGCAGCCGCAGC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		12629	0.001		0.0	False		,,,				2504	0.0					ENST00000525263.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(343-345)Cgc>Tgc		kallikrein-related peptidase 12							32.0	31.0	32.0					19																	51535246		2195	4287	6482	SO:0001583	missense	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535246G>A		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.343C>T	19.37:g.51535246G>A	ENSP00000436458:p.Arg115Cys					KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.R115C|KLK12_ENST00000250351.4_Missense_Mutation_p.R115C|KLK12_ENST00000250352.11_Intron	p.R115C			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	462	-		all_neural(266;0.026)	115			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.343C>T	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.135915	0.37728	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.89050	-2.46;-2.46;-2.46	4.07	-2.66	0.06077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.295300	0.05519	N	0.561801	D	0.89188	0.6644	M	0.69358	2.11	0.21416	N	0.999699	P;D	0.54964	0.951;0.969	P;B	0.51229	0.663;0.289	T	0.79897	-0.1609	10	0.87932	D	0	.	5.7177	0.17970	0.0:0.2758:0.5056:0.2186	.	115;115	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	C	115	ENSP00000436458:R115C;ENSP00000324181:R115C;ENSP00000250351:R115C	ENSP00000250351:R115C	R	-	1	0	KLK12	56227058	0.000000	0.05858	0.247000	0.24249	0.174000	0.22865	-0.406000	0.07187	-0.107000	0.12088	-0.153000	0.13522	CGC		0.682	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		11	11	0	0	0	1	0	11	11				
EPHA5	2044	broad.mit.edu	37	4	66242775	66242775	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:66242775G>A	ENST00000273854.3	-	9	2397	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	EPHA5_ENST00000511294.1_Silent_p.C600C|EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Silent_p.C436C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	599					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCCACATTCGCAGCAACTGA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1795-1797)tgC>tgT		EPH receptor A5							85.0	70.0	75.0					4																	66242775		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66242775G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1797C>T	4.37:g.66242775G>A		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.C600C|EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Silent_p.C436C	p.C599C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			9	2397	-			599					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1797C>T	CCDS3513.1																																																																																				0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		3	5	0	0	0	1	0	3	5				
ZNF845	91664	broad.mit.edu	37	19	53855127	53855127	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53855127G>A	ENST00000595091.1	+	5	1418	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R400H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCCCTTACACGCCATCGTAGA	0.403																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1198-1200)cGc>cAc		zinc finger protein 845							44.0	42.0	43.0					19																	53855127		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855127G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1199G>A	19.37:g.53855127G>A	ENSP00000470005:p.Arg400His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R400H	p.R400H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1316	+			400						Missense_Mutation	SNP	ENST00000595091.1	37	c.1199G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	9.238	1.037645	0.19669	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.26810	1.71	1.91	-3.81	0.04294	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15046	0.0363	L	0.46567	1.45	0.09310	N	1	B	0.29188	0.236	B	0.20384	0.029	T	0.10428	-1.0630	9	0.40728	T	0.16	.	0.7926	0.01060	0.3046:0.1275:0.3229:0.2451	.	400	Q96IR2	ZN845_HUMAN	H	400	ENSP00000388311:R400H	ENSP00000412086:R400H	R	+	2	0	ZNF845	58546939	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-20.000000	0.00000	-2.287000	0.00669	0.205000	0.17691	CGC		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		33	48	0	0	0	1	0	33	48				
LETMD1	25875	broad.mit.edu	37	12	51450273	51450273	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:51450273G>T	ENST00000262055.4	+	7	942	c.903G>T	c.(901-903)caG>caT	p.Q301H	LETMD1_ENST00000418425.2_Missense_Mutation_p.Q314H|LETMD1_ENST00000552739.1_Missense_Mutation_p.Q184H|LETMD1_ENST00000547008.1_Missense_Mutation_p.Q177H|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q245H	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	301	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TGACTGCTCAGGAAGTAAAAT	0.502																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(940-942)caG>caT		LETM1 domain containing 1							84.0	80.0	81.0					12																	51450273		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51450273G>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.903G>T	12.37:g.51450273G>T	ENSP00000262055:p.Gln301His					LETMD1_ENST00000552739.1_Missense_Mutation_p.Q184H|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q245H|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.Q177H|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q301H	p.Q314H	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			7	961	+			301			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.942G>T	CCDS8806.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.15|15.15|15.15	2.748326|2.748326|2.748326	0.49257|0.49257|0.49257	.|.|.	.|.|.	ENSG00000050426|ENSG00000050426|ENSG00000050426	ENST00000553043|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000548251;ENST00000550814;ENST00000547660;ENST00000418425;ENST00000547008;ENST00000552739;ENST00000547256|ENST00000551931	.|T;T;T;T;T;T;T;T;T|.	.|0.52526|.	.|0.95;0.95;0.95;0.95;0.66;0.95;0.95;0.95;0.95|.	5.49|5.49|5.49	2.48|2.48|2.48	0.30137|0.30137|0.30137	.|LETM1-like (1);|.	.|0.404895|.	.|0.27841|.	.|N|.	.|0.017628|.	.|T|T	.|0.55417|0.55417	.|0.1919|0.1919	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;D;D;P|.	.|0.76494|.	.|0.958;0.658;0.999;0.996;0.942|.	.|P;P;D;D;P|.	.|0.70487|.	.|0.568;0.453;0.969;0.929;0.823|.	.|T|T	.|0.45205|0.45205	.|-0.9277|-0.9277	.|10|5	0.87932|0.38643|.	D|T|.	0|0.18|.	-7.7487|-7.7487|-7.7487	7.6885|7.6885|7.6885	0.28554|0.28554|0.28554	0.4616:0.0:0.5384:0.0|0.4616:0.0:0.5384:0.0|0.4616:0.0:0.5384:0.0	.|.|.	.|251;314;177;184;301|.	.|F8VVQ3;B3KXK7;F8W1Z2;F8VP71;Q6P1Q0|.	.|.;.;.;.;LTMD1_HUMAN|.	X|H|M	70|268;245;301;251;184;109;56;314;177;184;83|85	.|ENSP00000446862:Q268H;ENSP00000450163:Q245H;ENSP00000262055:Q301H;ENSP00000449896:Q251H;ENSP00000447166:Q184H;ENSP00000450391:Q56H;ENSP00000389903:Q314H;ENSP00000447419:Q177H;ENSP00000450333:Q184H|.	ENSP00000369478:G139X|ENSP00000262055:Q301H|.	G|Q|R	+|+|+	1|3|2	0|2|0	LETMD1|LETMD1|LETMD1	49736540|49736540|49736540	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.989000|0.989000|0.989000	0.46669|0.46669|0.46669	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	0.579000|0.579000|0.579000	0.23788|0.23788|0.23788	0.297000|0.297000|0.297000	0.22615|0.22615|0.22615	-0.345000|-0.345000|-0.345000	0.07892|0.07892|0.07892	GGA|CAG|AGG		0.502	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		5	68	1	0	0.014758	1	0.0148771	5	68				
BCAT2	587	broad.mit.edu	37	19	49303237	49303237	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:49303237C>T	ENST00000316273.6	-	5	544		c.e5+1		BCAT2_ENST00000545387.2_Splice_Site|BCAT2_ENST00000597011.1_Splice_Site|BCAT2_ENST00000402551.1_Splice_Site|BCAT2_ENST00000599246.1_Splice_Site|BCAT2_ENST00000598162.1_Splice_Site	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial						branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GTTGGGCCCACCTCGTTCCCA	0.682																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.e6+1		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						20.0	23.0	22.0					19																	49303237		2202	4298	6500	SO:0001630	splice_region_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303237C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.531+1G>A	19.37:g.49303237C>T						BCAT2_ENST00000598162.1_Splice_Site|BCAT2_ENST00000597011.1_Splice_Site|BCAT2_ENST00000545387.2_Splice_Site|BCAT2_ENST00000599246.1_Splice_Site|BCAT2_ENST00000316273.6_Splice_Site				O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	6	1032	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Splice_Site	SNP	ENST00000316273.6	37		CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819477	0.32145	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	.	.	.	4.86	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3758	0.55279	0.17:0.8299:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCAT2	53995049	1.000000	0.71417	0.956000	0.39512	0.099000	0.18886	7.070000	0.76763	1.125000	0.41998	0.561000	0.74099	.		0.682	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1		Intron	7	19	0	0	0	1	0	7	19				
PPP1R13B	23368	broad.mit.edu	37	14	104206284	104206284	+	Silent	SNP	G	G	A	rs199864652	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:104206284G>A	ENST00000202556.9	-	12	2751	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.N242N	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	823	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCGTGGCCACGTTGTTGTTAT	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		18614	0.0		0.0	False		,,,				2504	0.0031					ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(2467-2469)aaC>aaT		protein phosphatase 1, regulatory subunit 13B		G		1,4137		0,1,2068	40.0	46.0	44.0		2469	-3.3	0.9	14		44	10,8404		0,10,4197	no	coding-synonymous	PPP1R13B	NM_015316.2		0,11,6265	AA,AG,GG		0.1188,0.0242,0.0876		823/1091	104206284	11,12541	2069	4207	6276	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206284G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2469C>T	14.37:g.104206284G>A						PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.N242N	p.N823N	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			12	2751	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	823			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2469C>T	CCDS41997.1																																																																																				0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		10	18	0	0	0	1	0	10	18				
SGIP1	84251	broad.mit.edu	37	1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_5'Flank|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(706-708)tCg>tTg		SH3-domain GRB2-like (endophilin) interacting protein 1							130.0	129.0	129.0					1																	67142747		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67142747C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.707C>T	1.37:g.67142747C>T	ENSP00000360076:p.Ser236Leu					SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000468286.1_3'UTR	p.S236L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			13	784	+			236			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.707C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845032	0.91197	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.09642	0.0237	L	0.53249	1.67	0.42777	D	0.993851	D;P;P;D	0.76494	0.999;0.688;0.553;0.994	D;B;B;D	0.71656	0.974;0.08;0.08;0.921	T	0.11591	-1.0581	10	0.45353	T	0.12	-8.572	19.0678	0.93119	0.0:1.0:0.0:0.0	.	239;3;193;236	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	L	240;204;228;193;239;239;203;236	ENSP00000237247:S240L;ENSP00000360078:S204L;ENSP00000410439:S228L;ENSP00000360074:S193L;ENSP00000360075:S203L;ENSP00000360076:S236L	ENSP00000237247:S240L	S	+	2	0	SGIP1	66915335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.135000	0.71696	2.506000	0.84524	0.655000	0.94253	TCG		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		30	48	0	0	0	1	0	30	48				
CAPZA3	93661	broad.mit.edu	37	12	18891971	18891971	+	Nonsense_Mutation	SNP	C	C	T	rs15547		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:18891971C>T	ENST00000317658.3	+	1	927	c.769C>T	c.(769-771)Cga>Tga	p.R257*	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	257					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAAAATTCTACGAAGGGATCT	0.408																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(769-771)Cga>Tga		capping protein (actin filament) muscle Z-line, alpha 3							48.0	51.0	50.0					12																	18891971		2203	4300	6503	SO:0001587	stop_gained	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891971C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.769C>T	12.37:g.18891971C>T	ENSP00000326238:p.Arg257*						p.R257*	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	927	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	257					Q969J0	Nonsense_Mutation	SNP	ENST00000317658.3	37	c.769C>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162661	0.94727	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	3.67	0.42095	.	0.159668	0.40469	N	0.001093	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3769	9.2883	0.37771	0.2794:0.7206:0.0:0.0	rs15547;rs52793612;rs15547	.	.	.	X	257	.	ENSP00000326238:R257X	R	+	1	2	CAPZA3	18783238	0.413000	0.25400	0.997000	0.53966	0.981000	0.71138	0.545000	0.23268	2.415000	0.81967	0.462000	0.41574	CGA		0.408	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		17	36	0	0	0	1	0	17	36				
ARIH1	25820	broad.mit.edu	37	15	72855772	72855772	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:72855772G>A	ENST00000379887.4	+	7	1156	c.842G>A	c.(841-843)tGc>tAc	p.C281Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	281					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GCCCCAGATTGCCACCATGTT	0.418																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(841-843)tGc>tAc		ariadne RBR E3 ubiquitin protein ligase 1							146.0	139.0	142.0					15																	72855772		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72855772G>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.842G>A	15.37:g.72855772G>A	ENSP00000369217:p.Cys281Tyr						p.C281Y	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN			7	1156	+			281					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.842G>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231115	0.79688	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.99458	-5.93	5.75	4.82	0.62117	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96549	0.9406	10	0.87932	D	0	.	16.8616	0.86020	0.0:0.1285:0.8715:0.0	.	281	Q9Y4X5	ARI1_HUMAN	Y	281;251	ENSP00000369217:C281Y	ENSP00000299305:C251Y	C	+	2	0	ARIH1	70642826	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.474000	0.97718	1.424000	0.47217	-0.325000	0.08501	TGC		0.418	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		42	51	0	0	0	1	0	42	51				
WDFY1	57590	broad.mit.edu	37	2	224746674	224746674	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:224746674G>A	ENST00000233055.4	-	10	1151	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	350						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ATCTTTGATGGAGTCGTAACA	0.463																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(1048-1050)tCc>tTc		WD repeat and FYVE domain containing 1							203.0	211.0	208.0					2																	224746674		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224746674G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1049C>T	2.37:g.224746674G>A	ENSP00000233055:p.Ser350Phe						p.S350F	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	10	1151	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	350					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.1049C>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081972	0.76528	.	.	ENSG00000085449	ENST00000233055	T	0.72942	-0.7	5.83	5.83	0.93111	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.104802	0.64402	D	0.000002	T	0.67487	0.2898	L	0.37630	1.12	0.52099	D	0.999943	P	0.41393	0.748	B	0.41236	0.351	T	0.69483	-0.5133	10	0.56958	D	0.05	-22.51	20.1337	0.98010	0.0:0.0:1.0:0.0	.	350	Q8IWB7	WDFY1_HUMAN	F	350	ENSP00000233055:S350F	ENSP00000233055:S350F	S	-	2	0	WDFY1	224454918	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.301000	0.72782	2.753000	0.94483	0.650000	0.86243	TCC		0.463	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		34	142	0	0	0	1	0	34	142				
NID2	22795	broad.mit.edu	37	14	52509599	52509599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:52509599G>A	ENST00000216286.5	-	6	1479	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	NID2_ENST00000541773.1_Nonsense_Mutation_p.Q441*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	494	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGGAGCATTGTCTGTGGTTG	0.458																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1480-1482)Caa>Taa		nidogen 2 (osteonidogen)							168.0	136.0	147.0					14																	52509599		2203	4300	6503	SO:0001587	stop_gained	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52509599G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1480C>T	14.37:g.52509599G>A	ENSP00000216286:p.Gln494*					NID2_ENST00000541773.1_Nonsense_Mutation_p.Q441*	p.Q494*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			6	1479	-	Breast(41;0.0639)|all_epithelial(31;0.123)		494			EGF-like 1.		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	c.1480C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	36	5.859428	0.97036	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	.	.	.	5.77	4.87	0.63330	.	0.773311	0.12797	N	0.438324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.7194	0.51672	0.0:0.1339:0.7269:0.1392	.	.	.	.	X	494;441;496	.	ENSP00000216286:Q494X	Q	-	1	0	NID2	51579349	1.000000	0.71417	0.019000	0.16419	0.571000	0.35966	4.974000	0.63771	1.549000	0.49425	0.655000	0.94253	CAA		0.458	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			17	44	0	0	0	1	0	17	44				
TAF7L	54457	broad.mit.edu	37	X	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	rs145455495		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(412-414)Cgc>Tgc		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa		G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148.0	146.0	147.0		154,412	3.8	0.0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538563G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys					TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C	p.R138C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			4	423	-			138					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.412C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			4	109	0	0	0	1	0	4	109				
CSAD	51380	broad.mit.edu	37	12	53553931	53553931	+	Missense_Mutation	SNP	C	C	T	rs34792176		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:53553931C>T	ENST00000444623.1	-	14	1406	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000453446.2_Missense_Mutation_p.R380H|CSAD_ENST00000379843.3_Missense_Mutation_p.R233H|CSAD_ENST00000267085.4_Missense_Mutation_p.R407H|CSAD_ENST00000379846.1_Missense_Mutation_p.R233H	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	380					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CTGGTCGATGCGCCGCTCCAG	0.657											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.(1219-1221)cGc>cAc		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						89.0	81.0	84.0					12																	53553931		2203	4300	6503	SO:0001583	missense	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53553931C>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1139G>A	12.37:g.53553931C>T	ENSP00000415485:p.Arg380His		OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	CSAD_ENST00000379843.3_Missense_Mutation_p.R233H|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.R233H|CSAD_ENST00000444623.1_Missense_Mutation_p.R380H|CSAD_ENST00000453446.2_Missense_Mutation_p.R380H	p.R407H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			14	1453	-			380					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.1220G>A	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	7.793	0.711942	0.15306	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.67	4.67	0.58626	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052914	0.85682	D	0.000000	T	0.44307	0.1287	L	0.35542	1.07	0.80722	D	1	D;D;P	0.61697	0.987;0.99;0.702	P;P;B	0.54924	0.701;0.764;0.125	T	0.11108	-1.0601	10	0.14252	T	0.57	-8.0005	16.8864	0.86077	0.0:1.0:0.0:0.0	.	407;380;233	Q9Y600-3;Q9Y600;Q9Y600-2	.;CSAD_HUMAN;.	H	469;233;407;233;380;341;380	ENSP00000369172:R233H;ENSP00000267085:R407H;ENSP00000369175:R233H;ENSP00000415485:R380H;ENSP00000410648:R380H	ENSP00000267085:R407H	R	-	2	0	CSAD	51840198	1.000000	0.71417	0.867000	0.34043	0.055000	0.15305	7.038000	0.76537	2.597000	0.87782	0.655000	0.94253	CGC		0.657	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		13	14	0	0	0	1	0	13	14				
ROBO2	6092	broad.mit.edu	37	3	77617512	77617512	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:77617512A>T	ENST00000461745.1	+	13	2798	c.1898A>T	c.(1897-1899)gAg>gTg	p.E633V	ROBO2_ENST00000332191.8_Missense_Mutation_p.E633V|ROBO2_ENST00000487694.3_Missense_Mutation_p.E649V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	633					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGCAGAAAGAGCTAGGAGAT	0.443																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1897-1899)gAg>gTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							111.0	113.0	112.0					3																	77617512		2076	4214	6290	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77617512A>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1898A>T	3.37:g.77617512A>T	ENSP00000417164:p.Glu633Val					ROBO2_ENST00000332191.8_Missense_Mutation_p.E633V|ROBO2_ENST00000487694.3_Missense_Mutation_p.E649V	p.E633V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	13	2798	+			633					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1898A>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074133	0.76415	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.63744	-0.06;-0.03;-0.03	5.3	5.3	0.74995	Fibronectin, type III (1);	0.000000	0.46758	D	0.000278	T	0.76849	0.4045	M	0.68952	2.095	0.44432	D	0.997353	D;D;D	0.67145	0.989;0.996;0.989	D;D;D	0.76071	0.945;0.987;0.945	T	0.78720	-0.2094	9	0.44086	T	0.13	.	15.5386	0.76021	1.0:0.0:0.0:0.0	.	649;633;633	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	649;649;653;633;633;354	ENSP00000417335:E649V;ENSP00000417164:E633V;ENSP00000327536:E633V	ENSP00000327536:E633V	E	+	2	0	ROBO2	77700202	1.000000	0.71417	0.946000	0.38457	0.470000	0.32858	9.221000	0.95188	2.137000	0.66172	0.528000	0.53228	GAG		0.443	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	25	0	0	0	1	0	15	25				
UTP20	27340	broad.mit.edu	37	12	101763627	101763627	+	Silent	SNP	C	C	T	rs139074123		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:101763627C>T	ENST00000261637.4	+	49	6687	c.6513C>T	c.(6511-6513)gcC>gcT	p.A2171A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2171					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGCTCGGGGCCGCCAGGGGCC	0.512																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6511-6513)gcC>gcT		UTP20, small subunit (SSU) processome component, homolog (yeast)		C		0,4406		0,0,2203	108.0	119.0	116.0		6513	1.8	1.0	12	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UTP20	NM_014503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2171/2786	101763627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101763627C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6513C>T	12.37:g.101763627C>T							p.A2171A	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			49	6687	+			2171					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6513C>T	CCDS9081.1																																																																																				0.512	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		28	65	0	0	0	1	0	28	65				
SHD	56961	broad.mit.edu	37	19	4288329	4288329	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:4288329C>T	ENST00000543264.2	+	5	2269	c.806C>T	c.(805-807)aCc>aTc	p.T269I	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	269	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGTGAGACCAACCCCCAG	0.567																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(805-807)aCc>aTc		Src homology 2 domain containing transforming protein D							81.0	68.0	72.0					19																	4288329		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4288329C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.806C>T	19.37:g.4288329C>T	ENSP00000446058:p.Thr269Ile					SHD_ENST00000599689.1_Intron	p.T269I	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2269	+			269			SH2.		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.806C>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347951	0.82022	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.66280	-0.2	5.02	3.98	0.46160	SH2 motif (5);	0.058947	0.64402	D	0.000003	T	0.80253	0.4589	M	0.87328	2.875	0.39000	D	0.959335	P	0.36633	0.562	P	0.57057	0.812	D	0.84179	0.0438	10	0.87932	D	0	-20.9399	13.266	0.60133	0.0:0.8394:0.1605:0.0	.	269	Q96IW2	SHD_HUMAN	I	269;184	ENSP00000446058:T269I	ENSP00000221852:T184I	T	+	2	0	SHD	4239329	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.547000	0.53663	1.342000	0.45619	0.555000	0.69702	ACC		0.567	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		6	27	0	0	0	1	0	6	27				
AKAP6	9472	broad.mit.edu	37	14	33201840	33201840	+	Intron	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:33201840G>A	ENST00000280979.4	+	10	3317				AKAP6_ENST00000557272.1_Intron|AKAP6_ENST00000557354.1_Missense_Mutation_p.V1061M	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6						action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTAGGTTATGTGTACATTTT	0.338																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000557354.1																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3181-3183)Gtg>Atg		A kinase (PRKA) anchor protein 6							70.0	71.0	71.0					14																	33201840		2203	4299	6502	SO:0001627	intron_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33201840G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3147+34G>A	14.37:g.33201840G>A						AKAP6_ENST00000280979.4_Intron|AKAP6_ENST00000557272.1_Intron	p.V1061M			Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	10	3280	+	Breast(36;0.0388)|Prostate(35;0.15)		0					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3181G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555004	0.27739	.	.	ENSG00000151320	ENST00000557354	T	0.19394	2.15	5.65	3.81	0.43845	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.80722	D	1	B	0.26120	0.142	B	0.24701	0.055	T	0.06991	-1.0796	7	.	.	.	.	10.992	0.47555	0.1468:0.0:0.8532:0.0	.	1061	A7E242	.	M	1061	ENSP00000450531:V1061M	.	V	+	1	0	AKAP6	32271591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.260000	0.43267	0.724000	0.32296	0.591000	0.81541	GTG		0.338	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		22	39	0	0	0	1	0	22	39				
TDRD6	221400	broad.mit.edu	37	6	46661673	46661673	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:46661673T>C	ENST00000316081.6	+	1	5808	c.5808T>C	c.(5806-5808)tgT>tgC	p.C1936C	TDRD6_ENST00000544460.1_Silent_p.C1936C	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1936					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATCCATGTGTACTGAGGACA	0.433																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5806-5808)tgT>tgC		tudor domain containing 6							154.0	148.0	150.0					6																	46661673		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46661673T>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5808T>C	6.37:g.46661673T>C						TDRD6_ENST00000316081.6_Silent_p.C1936C	p.C1936C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	6062	+			1936					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.5808T>C	CCDS34470.1																																																																																				0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		19	60	0	0	0	1	0	19	60				
NACC1	112939	broad.mit.edu	37	19	13249036	13249036	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:13249036C>T	ENST00000292431.4	+	6	1526	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	467	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCACCAACGCCCGCCGCGTC	0.612																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(1399-1401)gCc>gTc		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							158.0	139.0	145.0					19																	13249036		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13249036C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1400C>T	19.37:g.13249036C>T	ENSP00000292431:p.Ala467Val						p.A467V	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			6	1526	+			467			BEN.			Missense_Mutation	SNP	ENST00000292431.4	37	c.1400C>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962001	0.74016	.	.	ENSG00000160877	ENST00000292431	T	0.47528	0.84	4.7	4.7	0.59300	BEN domain (2);	0.058764	0.64402	D	0.000003	T	0.42154	0.1190	N	0.19112	0.55	0.49582	D	0.9998	P	0.36171	0.541	B	0.43508	0.422	T	0.50074	-0.8870	10	0.87932	D	0	.	15.1722	0.72884	0.0:1.0:0.0:0.0	.	467	Q96RE7	NACC1_HUMAN	V	467	ENSP00000292431:A467V	ENSP00000292431:A467V	A	+	2	0	NACC1	13110036	1.000000	0.71417	0.912000	0.35992	0.789000	0.44602	7.608000	0.82898	2.194000	0.70268	0.555000	0.69702	GCC		0.612	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		41	69	0	0	0	1	0	41	69				
SLC6A6	6533	broad.mit.edu	37	3	14489255	14489255	+	Missense_Mutation	SNP	G	G	A	rs554039615		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14489255G>A	ENST00000454876.2	+	5	859	c.530G>A	c.(529-531)cGc>cAc	p.R177H	SLC6A6_ENST00000416216.2_Missense_Mutation_p.R177H|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.R177H			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	177					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GACACCATGCGCAAGAACAAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22711	0.0		0.0	False		,,,				2504	0.0					ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(529-531)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 6							216.0	159.0	178.0					3																	14489255		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489255G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.530G>A	3.37:g.14489255G>A	ENSP00000398063:p.Arg177His					SLC6A6_ENST00000416216.2_Missense_Mutation_p.R177H|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.R177H	p.R177H			P31641	SC6A6_HUMAN			5	859	+			177					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.530G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251919	0.59212	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.74632	-0.86;-0.86;-0.86	4.59	4.59	0.56863	.	0.054246	0.64402	D	0.000002	T	0.68366	0.2993	L	0.41356	1.27	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.65705	-0.6103	10	0.46703	T	0.11	.	17.775	0.88504	0.0:0.0:1.0:0.0	.	177	P31641	SC6A6_HUMAN	H	177	ENSP00000398063:R177H;ENSP00000354107:R177H;ENSP00000401167:R177H	ENSP00000354107:R177H	R	+	2	0	SLC6A6	14464259	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.612000	0.98347	2.268000	0.75426	0.404000	0.27445	CGC		0.557	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		32	50	0	0	0	1	0	32	50				
MIEF1	54471	broad.mit.edu	37	22	39910048	39910048	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39910048G>A	ENST00000325301.2	+	6	1536	c.1112G>A	c.(1111-1113)tGc>tAc	p.C371Y	MIEF1_ENST00000404569.1_Missense_Mutation_p.C371Y|MIEF1_ENST00000402881.1_Missense_Mutation_p.C371Y	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	371					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										AAGGCCATATGCAAGTCCACC	0.647											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1111-1113)tGc>tAc									67.0	59.0	62.0					22																	39910048		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910048G>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1112G>A	22.37:g.39910048G>A	ENSP00000327124:p.Cys371Tyr		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Missense_Mutation_p.C371Y|SMCR7L_ENST00000404569.1_Missense_Mutation_p.C371Y	p.C371Y	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1536	+	Melanoma(58;0.04)		371					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1112G>A	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504100	0.85176	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.08282	3.11;3.11;3.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.996;0.999	T	0.12400	-1.0549	10	0.02654	T	1	-24.2768	20.6439	0.99570	0.0:0.0:1.0:0.0	.	371;371	Q9NQG6;B0QY95	MID51_HUMAN;.	Y	371	ENSP00000385110:C371Y;ENSP00000327124:C371Y;ENSP00000385191:C371Y	ENSP00000327124:C371Y	C	+	2	0	SMCR7L	38239994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.849000	0.99510	2.884000	0.98904	0.655000	0.94253	TGC		0.647	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		8	33	0	0	0	1	0	8	33				
SLC9B2	133308	broad.mit.edu	37	4	103970157	103970157	+	Silent	SNP	G	G	A	rs376080494		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:103970157G>A	ENST00000394785.3	-	6	1237	c.606C>T	c.(604-606)ggC>ggT	p.G202G	SLC9B2_ENST00000503103.1_Silent_p.G145G|SLC9B2_ENST00000362026.3_Silent_p.G202G|SLC9B2_ENST00000503230.1_Silent_p.G145G|SLC9B2_ENST00000339611.4_Silent_p.G202G	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	202					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G202G(6)									TTACACAAACGCCCTTTAACT	0.448																																						ENST00000394785.3																			6	Substitution - coding silent(6)	p.G202G(6)	large_intestine(2)|lung(2)|endometrium(2)								c.(604-606)ggC>ggT		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							100.0	87.0	91.0					4																	103970157		2203	4300	6503	SO:0001819	synonymous_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103970157G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.606C>T	4.37:g.103970157G>A						SLC9B2_ENST00000362026.3_Silent_p.G202G|SLC9B2_ENST00000339611.4_Silent_p.G202G|SLC9B2_ENST00000503230.1_Silent_p.G145G|SLC9B2_ENST00000503103.1_Silent_p.G145G	p.G202G	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			6	1237	-			202					B5ME52|Q6ZMD8|Q96D95	Silent	SNP	ENST00000394785.3	37	c.606C>T	CCDS3662.1																																																																																				0.448	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		20	17	0	0	0	1	0	20	17				
KRTAP9-4	85280	broad.mit.edu	37	17	39406184	39406184	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39406184G>A	ENST00000334109.2	+	1	246	c.212G>A	c.(211-213)tGc>tAc	p.C71Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	71	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.C71F(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGCTGCTGCCAGCCTTCC	0.627																																						ENST00000334109.2																			1	Substitution - Missense(1)	p.C71F(1)	breast(1)	breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(211-213)tGc>tAc		keratin associated protein 9-4							81.0	75.0	77.0					17																	39406184		2203	4300	6503	SO:0001583	missense	85280					keratin filament		g.chr17:39406184G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.212G>A	17.37:g.39406184G>A	ENSP00000334922:p.Cys71Tyr						p.C71Y	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	246	+		Breast(137;0.000496)	71			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.212G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	9.983	1.228802	0.22542	.	.	ENSG00000241595	ENST00000334109	T	0.02974	4.09	1.7	1.7	0.24286	.	.	.	.	.	T	0.10508	0.0257	M	0.83603	2.65	0.09310	N	1	D	0.59357	0.985	P	0.54924	0.764	T	0.06499	-1.0823	9	0.72032	D	0.01	.	9.4366	0.38643	0.0:0.0:1.0:0.0	.	71	Q9BYQ2	KRA94_HUMAN	Y	71	ENSP00000334922:C71Y	ENSP00000334922:C71Y	C	+	2	0	KRTAP9-4	36659710	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	4.962000	0.63687	1.275000	0.44379	0.505000	0.49811	TGC		0.627	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			28	43	0	0	0	1	0	28	43				
CD79B	974	broad.mit.edu	37	17	62007561	62007561	+	Silent	SNP	G	G	A	rs115494685		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:62007561G>A	ENST00000006750.3	-	3	395	c.303C>T	c.(301-303)aaC>aaT	p.N101N	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.N102N	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	101	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CGAGAGATTCGTTCTGGGACT	0.567			"""Mis, O"""		DLBCL								G|||	1	0.000199681	0.0	0.0	5008	,	,		21832	0.001		0.0	False		,,,				2504	0.0					ENST00000006750.3				Dom	yes		17	17q23	974	"""Mis, O"""	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(301-303)aaC>aaT		CD79b molecule, immunoglobulin-associated beta		G	,,	1,4405	2.1+/-5.4	0,1,2202	158.0	132.0	141.0		303,306,	-1.5	0.0	17	dbSNP_132	141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron	CD79B	NM_000626.2,NM_001039933.1,NM_021602.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	101/230,102/231,	62007561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007561G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.303C>T	17.37:g.62007561G>A						CD79B_ENST00000392795.3_Silent_p.N102N|CD79B_ENST00000349817.2_Intron	p.N101N	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	395	-			101			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.303C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			17	21	0	0	0	1	0	17	21				
N4BP2	55728	broad.mit.edu	37	4	40123912	40123912	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:40123912C>A	ENST00000261435.6	+	9	4597	c.4181C>A	c.(4180-4182)cCt>cAt	p.P1394H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1394					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTATTTGGTCCTGTTGGTATT	0.388																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4180-4182)cCt>cAt		NEDD4 binding protein 2							94.0	104.0	101.0					4																	40123912		2202	4300	6502	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123912C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4181C>A	4.37:g.40123912C>A	ENSP00000261435:p.Pro1394His						p.P1394H	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	4597	+			1394					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4181C>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967959	0.74131	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.31510	1.49	5.96	5.96	0.96718	.	0.120880	0.56097	D	0.000031	T	0.52629	0.1746	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45220	-0.9276	10	0.59425	D	0.04	-17.5106	20.3861	0.98944	0.0:1.0:0.0:0.0	.	1394;1394	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	H	1394;1314	ENSP00000261435:P1394H	ENSP00000261435:P1394H	P	+	2	0	N4BP2	39800307	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.107000	0.77047	2.825000	0.97269	0.585000	0.79938	CCT		0.388	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		27	46	1	0	7.92952e-12	1	8.55149e-12	27	46				
ASB5	140458	broad.mit.edu	37	4	177136781	177136781	+	Silent	SNP	C	C	T	rs202102103		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:177136781C>T	ENST00000296525.3	-	7	1073	c.960G>A	c.(958-960)acG>acA	p.T320T	ASB5_ENST00000512254.1_Silent_p.T267T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	320	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCTTCAGTAACGTTGGCAGCT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		15180	0.0		0.001	False		,,,				2504	0.0					ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(958-960)acG>acA		ankyrin repeat and SOCS box containing 5		C		0,4406		0,0,2203	110.0	101.0	104.0		960	-10.5	0.1	4		104	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ASB5	NM_080874.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		320/330	177136781	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136781C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.960G>A	4.37:g.177136781C>T						ASB5_ENST00000512254.1_Silent_p.T267T	p.T320T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	1073	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	320			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.960G>A	CCDS3827.1																																																																																				0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			16	35	0	0	0	1	0	16	35				
CEP350	9857	broad.mit.edu	37	1	179991872	179991872	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:179991872G>T	ENST00000367607.3	+	13	3693	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1092					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAACATCACGGCCTTTGAAT	0.393																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3274-3276)cGg>cTg		centrosomal protein 350kDa							87.0	84.0	85.0					1																	179991872		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179991872G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3275G>T	1.37:g.179991872G>T	ENSP00000356579:p.Arg1092Leu						p.R1092L	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			13	3693	+			1092					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3275G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414741	0.42817	.	.	ENSG00000135837	ENST00000367607	T	0.12039	2.72	5.84	1.95	0.26073	.	0.495478	0.16892	N	0.195289	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	0.999998	P;P	0.42973	0.589;0.796	B;B	0.36378	0.096;0.223	T	0.20207	-1.0282	9	.	.	.	.	8.9207	0.35610	0.3469:0.0:0.6531:0.0	.	1092;1092	E7EU22;Q5VT06	.;CE350_HUMAN	L	1092	ENSP00000356579:R1092L	.	R	+	2	0	CEP350	178258495	0.087000	0.21565	0.002000	0.10522	0.583000	0.36354	2.017000	0.40981	0.114000	0.18032	0.557000	0.71058	CGG		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	18	1	0	0.00024832	1	0.000253518	3	18				
TVP23C	201158	broad.mit.edu	37	17	15457128	15457128	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:15457128C>T	ENST00000225576.3	-	3	206	c.111G>A	c.(109-111)tcG>tcA	p.S37S	TVP23C_ENST00000428082.2_Silent_p.S37S|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Silent_p.S37S|TVP23C_ENST00000438826.3_Silent_p.S37S|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Silent_p.S37S	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	37						integral component of membrane (GO:0016021)											AGTGGAAAAACGATGCTACTG	0.368																																						ENST00000522212.2																			0											c.(109-111)tcG>tcA									204.0	201.0	202.0					17																	15457128		2203	4297	6500	SO:0001819	synonymous_variant	0							g.chr17:15457128C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.111G>A	17.37:g.15457128C>T						TVP23C_ENST00000225576.3_Silent_p.S37S|TVP23C_ENST00000438826.3_Silent_p.S37S|TVP23C_ENST00000428082.2_Silent_p.S37S|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Silent_p.S37S|TVP23C_ENST00000584811.1_5'UTR	p.S37S	NM_001204478.1	NP_001191407.1					3	223	-								Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.111G>A	CCDS11170.1																																																																																				0.368	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		49	80	0	0	0	1	0	49	80				
ZSCAN10	84891	broad.mit.edu	37	16	3140145	3140145	+	Silent	SNP	G	G	A	rs374608894		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:3140145G>A	ENST00000252463.2	-	5	1212	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	ZSCAN10_ENST00000538082.2_Silent_p.P293P|ZSCAN10_ENST00000575108.1_Silent_p.P36P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	375					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACAGGAAGGCGGGTTCGGAGG	0.721																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1123-1125)ccC>ccT		zinc finger and SCAN domain containing 10		G		0,4248		0,0,2124	23.0	30.0	28.0		1125	-10.0	0.2	16		28	1,8255		0,1,4127	no	coding-synonymous	ZSCAN10	NM_032805.1		0,1,6251	AA,AG,GG		0.0121,0.0,0.0080		375/726	3140145	1,12503	2124	4128	6252	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140145G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1125C>T	16.37:g.3140145G>A						ZSCAN10_ENST00000575108.1_Silent_p.P36P|ZSCAN10_ENST00000538082.2_Silent_p.P293P	p.P375P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1212	-			375					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1125C>T	CCDS10493.1																																																																																				0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		22	35	0	0	0	1	0	22	35				
IL2RB	3560	broad.mit.edu	37	22	37524280	37524280	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37524280G>A	ENST00000216223.5	-	10	1710	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	504					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTCCCTGGGGCCAGCGTCAG	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1510-1512)ggC>ggT		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						28.0	30.0	29.0					22																	37524280		2203	4299	6502	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524280G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1512C>T	22.37:g.37524280G>A							p.G504G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1710	-			504					B2R765	Silent	SNP	ENST00000216223.5	37	c.1512C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			17	16	0	0	0	1	0	17	16				
SLC37A4	2542	broad.mit.edu	37	11	118898389	118898389	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:118898389C>T	ENST00000545985.1	-	6	1330	c.574G>A	c.(574-576)Gct>Act	p.A192T	SLC37A4_ENST00000330775.7_Missense_Mutation_p.A191T|SLC37A4_ENST00000357590.5_Missense_Mutation_p.A192T|SLC37A4_ENST00000538950.1_Missense_Mutation_p.A119T|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	192					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CCAACATCAGCAGGTTCATTG	0.607																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(574-576)Gct>Act		solute carrier family 37 (glucose-6-phosphate transporter), member 4							60.0	68.0	65.0					11																	118898389		2101	4215	6316	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118898389C>T	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.574G>A	11.37:g.118898389C>T	ENSP00000475241:p.Ala192Thr					SLC37A4_ENST00000538950.1_Missense_Mutation_p.A119T|SLC37A4_ENST00000330775.7_Missense_Mutation_p.A191T|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.A192T	p.A192T	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	6	1330	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	192					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.574G>A																																																																																					0.607	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		10	10	0	0	0	1	0	10	10				
KRT7	3855	broad.mit.edu	37	12	52627342	52627342	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:52627342C>T	ENST00000331817.5	+	1	445	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	88	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CCAGCGGGTGCGCCAGGAGGA	0.677																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(262-264)Cgc>Tgc		keratin 7							39.0	42.0	41.0					12																	52627342		2202	4300	6502	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627342C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.262C>T	12.37:g.52627342C>T	ENSP00000329243:p.Arg88Cys						p.R88C	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	445	+			88			Head.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.262C>T	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648200	0.87958	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	T	0.78595	-1.19	4.22	4.22	0.49857	.	0.000000	0.34178	N	0.004181	T	0.69851	0.3157	L	0.56769	1.78	0.80722	D	1	B;P	0.42993	0.33;0.797	B;B	0.33196	0.139;0.159	T	0.76509	-0.2933	10	0.87932	D	0	.	12.2669	0.54683	0.1697:0.8303:0.0:0.0	.	88;88	F8VZY5;P08729	.;K2C7_HUMAN	C	88;88;64;88	ENSP00000329243:R88C	ENSP00000329243:R88C	R	+	1	0	KRT7	50913609	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.874000	0.39568	2.351000	0.79841	0.457000	0.33378	CGC		0.677	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		4	68	0	0	0	1	0	4	68				
ADAM15	8751	broad.mit.edu	37	1	155026819	155026819	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155026819G>A	ENST00000356955.2	+	6	550	c.449G>A	c.(448-450)aGc>aAc	p.S150N	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.S134N|ADAM15_ENST00000368412.3_Missense_Mutation_p.S150N|ADAM15_ENST00000355956.2_Missense_Mutation_p.S150N|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.S150N|ADAM15_ENST00000271836.6_Missense_Mutation_p.S150N|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.S160N|ADAM15_ENST00000360674.4_Missense_Mutation_p.S150N|ADAM15_ENST00000359280.4_Missense_Mutation_p.S150N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	150					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGAGAGAAGCTATACCCTG	0.532																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(448-450)aGc>aAc		ADAM metallopeptidase domain 15							52.0	60.0	57.0					1																	155026819		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155026819G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.449G>A	1.37:g.155026819G>A	ENSP00000349436:p.Ser150Asn					ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.S150N|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.S160N|ADAM15_ENST00000368412.3_Missense_Mutation_p.S150N|ADAM15_ENST00000360674.4_Missense_Mutation_p.S150N|ADAM15_ENST00000355956.2_Missense_Mutation_p.S150N|ADAM15_ENST00000359280.4_Missense_Mutation_p.S150N|ADAM15_ENST00000447332.3_Missense_Mutation_p.S134N|ADAM15_ENST00000449910.2_Missense_Mutation_p.S150N	p.S150N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		6	550	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		150					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.449G>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516279	0.64634	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.09	4.11	0.48088	Peptidase M12B, propeptide (1);	0.402267	0.21438	N	0.074540	T	0.17450	0.0419	M	0.82630	2.6	0.80722	D	1	D;D;P;P;P;P;P;P;P;P	0.53151	0.958;0.958;0.866;0.734;0.734;0.948;0.837;0.837;0.913;0.775	P;P;P;P;P;P;P;P;P;P	0.60473	0.875;0.875;0.735;0.71;0.637;0.802;0.617;0.617;0.864;0.809	T	0.00086	-1.2096	10	0.62326	D	0.03	.	9.8517	0.41061	0.0:0.0:0.7815:0.2185	.	160;167;134;150;150;150;150;150;150;150	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	N	150;150;150;150;150;150;150;160	ENSP00000349436:S150N;ENSP00000403843:S150N;ENSP00000352226:S150N;ENSP00000353892:S150N;ENSP00000357397:S150N;ENSP00000348227:S150N;ENSP00000271836:S150N;ENSP00000432927:S160N	ENSP00000271836:S150N	S	+	2	0	ADAM15	153293443	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	3.320000	0.51991	2.651000	0.90000	0.561000	0.74099	AGC		0.532	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		19	52	0	0	0	1	0	19	52				
TNK2	10188	broad.mit.edu	37	3	195599151	195599151	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195599151C>T	ENST00000333602.6	-	10	2064	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	TNK2_ENST00000316664.3_Missense_Mutation_p.D483N|TNK2_ENST00000381916.2_Missense_Mutation_p.D546N|TNK2_ENST00000392400.1_Missense_Mutation_p.D483N|TNK2_ENST00000428187.1_Missense_Mutation_p.D515N	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	483				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ACTCACTCGTCAATCCTGTCC	0.662																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1447-1449)Gac>Aac		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						39.0	33.0	35.0					3																	195599151		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599151C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1447G>A	3.37:g.195599151C>T	ENSP00000329425:p.Asp483Asn					TNK2_ENST00000316664.3_Missense_Mutation_p.D483N|TNK2_ENST00000381916.2_Missense_Mutation_p.D546N|TNK2_ENST00000428187.1_Missense_Mutation_p.D515N|TNK2_ENST00000392400.1_Missense_Mutation_p.D483N	p.D483N	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	2064	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	483	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1447G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558875	0.86231	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400;ENST00000411741;ENST00000316664	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.45	5.45	0.79879	GTPase binding (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.73217	2.22	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.998	T	0.68780	-0.5318	10	0.48119	T	0.1	.	17.8525	0.88751	0.0:1.0:0.0:0.0	.	359;483;546;515	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	N	483;546;35;515;483;128;483	ENSP00000329425:D483N;ENSP00000371341:D546N;ENSP00000398614:D35N;ENSP00000392546:D515N;ENSP00000376201:D483N;ENSP00000415126:D128N;ENSP00000323216:D483N	ENSP00000323216:D483N	D	-	1	0	TNK2	197083548	1.000000	0.71417	0.233000	0.24025	0.296000	0.27459	7.361000	0.79497	2.569000	0.86673	0.561000	0.74099	GAC		0.662	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		13	13	0	0	0	1	0	13	13				
PHYHIP	9796	broad.mit.edu	37	8	22079190	22079190	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22079190C>T	ENST00000321613.3	-	6	1125	c.669G>A	c.(667-669)gcG>gcA	p.A223A	PHYHIP_ENST00000454243.2_Silent_p.A223A	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTAGAAGTCCGCAAAGTAGA	0.662																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(667-669)gcG>gcA		phytanoyl-CoA 2-hydroxylase interacting protein							17.0	23.0	21.0					8																	22079190		2032	4166	6198	SO:0001819	synonymous_variant	9796							g.chr8:22079190C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.669G>A	8.37:g.22079190C>T						PHYHIP_ENST00000321613.3_Silent_p.A223A	p.A223A	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	5	1243	-			223					D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	c.669G>A	CCDS43723.1																																																																																				0.662	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		3	6	0	0	0	1	0	3	6				
RHOT2	89941	broad.mit.edu	37	16	722291	722291	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:722291G>T	ENST00000315082.4	+	15	1347	c.1233G>T	c.(1231-1233)caG>caT	p.Q411H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	411	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGAAGGGACAGACGCAGCGGA	0.652																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1231-1233)caG>caT		ras homolog family member T2							61.0	60.0	60.0					16																	722291		2199	4297	6496	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:722291G>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1233G>T	16.37:g.722291G>T	ENSP00000321971:p.Gln411His						p.Q411H	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			15	1347	+		Hepatocellular(780;0.0218)	411			Miro 2.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1233G>T	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724677	0.48833	.	.	ENSG00000140983	ENST00000315082	T	0.15256	2.44	5.1	-0.495	0.12030	EF hand associated, type-1 (1);MIRO (1);	0.110376	0.64402	D	0.000007	T	0.33177	0.0854	M	0.75264	2.295	0.54753	D	0.999988	D	0.54601	0.967	P	0.62014	0.897	T	0.09079	-1.0691	10	0.72032	D	0.01	-15.9151	9.7747	0.40612	0.3671:0.0:0.6329:0.0	.	411	Q8IXI1	MIRO2_HUMAN	H	411	ENSP00000321971:Q411H	ENSP00000321971:Q411H	Q	+	3	2	RHOT2	662292	1.000000	0.71417	0.941000	0.38009	0.627000	0.37826	2.400000	0.44504	-0.047000	0.13423	0.462000	0.41574	CAG		0.652	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		18	26	1	0	6.94344e-10	1	7.39541e-10	18	26				
METTL22	79091	broad.mit.edu	37	16	8722915	8722915	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:8722915C>T	ENST00000381920.3	+	3	720	c.462C>T	c.(460-462)gaC>gaT	p.D154D	METTL22_ENST00000561758.1_Silent_p.D98D	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	154						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						AGGAAGAAGACGACGTCCTGG	0.542																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(460-462)gaC>gaT		methyltransferase like 22							228.0	237.0	234.0					16																	8722915		2087	4207	6294	SO:0001819	synonymous_variant	79091						methyltransferase activity	g.chr16:8722915C>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.462C>T	16.37:g.8722915C>T						METTL22_ENST00000561758.1_Silent_p.D98D	p.D154D	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			3	720	+			154					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Silent	SNP	ENST00000381920.3	37	c.462C>T	CCDS10533.2																																																																																				0.542	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		46	93	0	0	0	1	0	46	93				
SLC6A17	388662	broad.mit.edu	37	1	110716609	110716609	+	Silent	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110716609G>T	ENST00000331565.4	+	4	944	c.459G>T	c.(457-459)gtG>gtT	p.V153V	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	153					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCTCTTTGTGGGGCTGTATT	0.587																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(457-459)gtG>gtT		solute carrier family 6 (neutral amino acid transporter), member 17							171.0	175.0	174.0					1																	110716609		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110716609G>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.459G>T	1.37:g.110716609G>T							p.V153V	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	4	944	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	153					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.459G>T	CCDS30799.1																																																																																				0.587	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		37	56	1	0	9.62906e-15	1	1.05217e-14	37	56				
PDE10A	10846	broad.mit.edu	37	6	165801936	165801936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:165801936C>A	ENST00000366882.1	-	18	1787	c.1633G>T	c.(1633-1635)Gga>Tga	p.G545*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.G555*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.G545*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	545					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATCAGCAGTCCTTTGCGCTTT	0.473																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1633-1635)Gga>Tga		phosphodiesterase 10A	Dipyridamole(DB00975)						105.0	95.0	99.0					6																	165801936		2203	4300	6503	SO:0001587	stop_gained	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801936C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1633G>T	6.37:g.165801936C>A	ENSP00000355847:p.Gly545*					PDE10A_ENST00000539869.2_Nonsense_Mutation_p.G555*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.G545*	p.G545*			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1787	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	545					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37	c.1633G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.817417	0.98507	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	.	.	.	X	545;573;555;545;544	.	ENSP00000341187:G555X	G	-	1	0	PDE10A	165721926	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.207000	0.77899	2.797000	0.96272	0.563000	0.77884	GGA		0.473	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			33	61	1	0	7.04047e-22	1	7.82589e-22	33	61				
SFTPA2	729238	broad.mit.edu	37	10	81319187	81319187	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:81319187G>A	ENST00000372325.2	-	3	137	c.53C>T	c.(52-54)gCt>gTt	p.A18V	SFTPA2_ENST00000372327.5_Missense_Mutation_p.A18V	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	18					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCGCACGCAGCACCAGAGGC	0.642									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(52-54)gCt>gTt		surfactant protein A2							174.0	141.0	152.0					10																	81319187		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319187G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.53C>T	10.37:g.81319187G>A	ENSP00000361400:p.Ala18Val					SFTPA2_ENST00000372327.5_Missense_Mutation_p.A18V	p.A18V	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	137	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		18					A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.53C>T	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	1.327	-0.597861	0.03771	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	T;T;T	0.14893	2.47;2.47;2.47	2.78	-1.6	0.08426	.	1.379730	0.04537	N	0.387467	T	0.09774	0.0240	N	0.16743	0.435	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33369	-0.9871	10	0.22706	T	0.39	0.1011	5.6632	0.17680	0.6367:0.0:0.3633:0.0	.	18	E3VLC8	.	V	18;33;18;18	ENSP00000361400:A18V;ENSP00000361402:A18V;ENSP00000397375:A18V	ENSP00000361400:A18V	A	-	2	0	SFTPA2	80989193	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.067000	0.03451	-0.143000	0.11334	0.536000	0.68110	GCT		0.642	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		18	65	0	0	0	1	0	18	65				
MYO1A	4640	broad.mit.edu	37	12	57430850	57430850	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:57430850C>T	ENST00000442789.2	-	21	2368	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	MYO1A_ENST00000544473.1_Missense_Mutation_p.R532H|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.R694H	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	694	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAGTCTCAGGCGCCTCTGTTC	0.562																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2080-2082)cGc>cAc		myosin IA							81.0	85.0	84.0					12																	57430850		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57430850C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2081G>A	12.37:g.57430850C>T	ENSP00000393392:p.Arg694His					MYO1A_ENST00000300119.3_Missense_Mutation_p.R694H|MYO1A_ENST00000544473.1_Missense_Mutation_p.R532H	p.R694H	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			21	2368	-			694					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2081G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440198	0.83993	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71817	-0.6;-0.6;-0.6	5.46	4.57	0.56435	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.42487	1.325	0.41120	D	0.985804	D	0.65815	0.995	P	0.49502	0.613	T	0.71038	-0.4708	10	0.52906	T	0.07	.	12.1287	0.53930	0.0:0.9161:0.0:0.0839	.	694	Q9UBC5	MYO1A_HUMAN	H	694;694;532	ENSP00000300119:R694H;ENSP00000393392:R694H;ENSP00000440514:R532H	ENSP00000300119:R694H	R	-	2	0	MYO1A	55717117	0.888000	0.30383	1.000000	0.80357	0.980000	0.70556	1.499000	0.35671	1.308000	0.44962	0.563000	0.77884	CGC		0.562	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		23	44	0	0	0	1	0	23	44				
ABCA2	20	broad.mit.edu	37	9	139913201	139913201	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139913201C>T	ENST00000371605.3	-	12	1933	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.A597T|ABCA2_ENST00000265662.5_Missense_Mutation_p.A597T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	596					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCTGGTAGGCCTGGTTGAGG	0.657																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1789-1791)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 2							65.0	69.0	68.0					9																	139913201		2031	4176	6207	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139913201C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1786G>A	9.37:g.139913201C>T	ENSP00000360666:p.Ala596Thr					ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.A596T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A597T	p.A597T			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	13	1936	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	596					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1789G>A		.	.	.	.	.	.	.	.	.	.	c	20.3	3.958974	0.74016	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87412	-2.25;-2.25;-2.25	4.14	4.14	0.48551	.	0.482935	0.22417	U	0.060334	D	0.84488	0.5483	M	0.67953	2.075	0.80722	D	1	P;B	0.41748	0.761;0.43	B;B	0.33121	0.158;0.13	D	0.86957	0.2089	10	0.56958	D	0.05	.	16.3998	0.83635	0.0:1.0:0.0:0.0	.	596;627	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	T	597;596;627;597	ENSP00000265662:A597T;ENSP00000360666:A596T;ENSP00000344155:A597T	ENSP00000265662:A597T	A	-	1	0	ABCA2	139033022	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.555000	0.82223	1.856000	0.53863	0.486000	0.48141	GCC		0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		16	26	0	0	0	1	0	16	26				
YY1AP1	55249	broad.mit.edu	37	1	155630479	155630479	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155630479G>A	ENST00000295566.4	-	11	1383	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	YY1AP1_ENST00000347088.5_Missense_Mutation_p.R408C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R377C|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R408C|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R408C|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R254C|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R546C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R388C|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R526C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R377C	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	454					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTGATGAACGCTTCTGTCTC	0.542																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1576-1578)Cgt>Tgt		YY1 associated protein 1							128.0	133.0	131.0					1																	155630479		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155630479G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1360C>T	1.37:g.155630479G>A	ENSP00000295566:p.Arg454Cys					YY1AP1_ENST00000368339.5_Missense_Mutation_p.R546C|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R408C|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R377C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R397C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R388C|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R377C|YY1AP1_ENST00000295566.4_Missense_Mutation_p.R454C|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R254C|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R408C|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R408C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R397C	p.R526C	NM_001198904.1	NP_001185833.1					10	1684	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1576C>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.424720	0.25639	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	1.97	1.97	0.26223	.	0.188047	0.31071	N	0.008310	T	0.56262	0.1973	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.995;1.0;1.0	D;P;D;D;D	0.73708	0.981;0.862;0.963;0.931;0.938	T	0.60727	-0.7206	10	0.87932	D	0	.	8.154	0.31158	0.0:0.0:0.6278:0.3722	.	546;388;454;408;526	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	C	397;408;377;408;397;526;454;408;377;388;546;254	ENSP00000352134:R397C;ENSP00000347686:R408C;ENSP00000311138:R377C;ENSP00000316079:R408C;ENSP00000355298:R397C;ENSP00000357324:R526C;ENSP00000295566:R454C;ENSP00000357314:R408C;ENSP00000385791:R377C;ENSP00000385390:R388C;ENSP00000357323:R546C;ENSP00000437926:R254C	ENSP00000295566:R454C	R	-	1	0	YY1AP1	153897103	0.995000	0.38212	0.987000	0.45799	0.162000	0.22319	1.127000	0.31357	1.419000	0.47118	0.306000	0.20318	CGT		0.542	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		33	55	0	0	0	1	0	33	55				
SHANK2	22941	broad.mit.edu	37	11	70332444	70332444	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70332444G>A	ENST00000423696.2	-	15	2853	c.2817C>T	c.(2815-2817)acC>acT	p.T939T	SHANK2_ENST00000409161.1_Silent_p.T722T|SHANK2_ENST00000338508.4_Silent_p.T1319T|SHANK2_ENST00000449833.2_Silent_p.T723T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	939					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCGTCCACGGTGTGCACCA	0.602																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3955-3957)acC>acT		SH3 and multiple ankyrin repeat domains 2							122.0	107.0	112.0					11																	70332444		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332444G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2817C>T	11.37:g.70332444G>A						SHANK2_ENST00000423696.2_Silent_p.T939T|SHANK2_ENST00000449833.2_Silent_p.T723T|SHANK2_ENST00000409161.1_Silent_p.T722T	p.T1319T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3956	-			939					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3957C>T																																																																																					0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		15	24	0	0	0	1	0	15	24				
C14orf119	55017	broad.mit.edu	37	14	23566895	23566895	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:23566895C>T	ENST00000319074.4	+	2	884	c.28C>T	c.(28-30)Cca>Tca	p.P10S	ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_5'Flank|ACIN1_ENST00000262710.1_5'Flank|C14orf119_ENST00000554203.1_Missense_Mutation_p.P10S|ACIN1_ENST00000457657.1_5'Flank	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	10						mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CTCTTCAATGCCACTATCCTT	0.443																																						ENST00000319074.4																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(28-30)Cca>Tca		chromosome 14 open reading frame 119							277.0	244.0	255.0					14																	23566895		2203	4300	6503	SO:0001583	missense	55017							g.chr14:23566895C>T		CCDS9588.1	14q11.2	2012-09-25			ENSG00000179933	ENSG00000179933			20270	protein-coding gene	gene with protein product							Standard	NM_017924		Approved	FLJ20671	uc001wiu.3	Q9NWQ9	OTTHUMG00000028717	ENST00000319074.4:c.28C>T	14.37:g.23566895C>T	ENSP00000322238:p.Pro10Ser					C14orf119_ENST00000554203.1_Missense_Mutation_p.P10S	p.P10S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	2	884	+	all_cancers(95;4.6e-05)		10					Q6IAA7	Missense_Mutation	SNP	ENST00000319074.4	37	c.28C>T	CCDS9588.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211129	0.39102	.	.	ENSG00000179933	ENST00000319074;ENST00000554203	T;T	0.55052	0.54;0.54	4.94	2.74	0.32292	.	0.296103	0.31323	N	0.007855	T	0.45558	0.1348	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48736	-0.9009	10	0.87932	D	0	-3.1809	9.7239	0.40320	0.0:0.795:0.0:0.205	.	10	Q9NWQ9	CN119_HUMAN	S	10	ENSP00000322238:P10S;ENSP00000450861:P10S	ENSP00000322238:P10S	P	+	1	0	C14orf119	22636735	0.005000	0.15991	0.012000	0.15200	0.181000	0.23173	0.960000	0.29253	1.069000	0.40788	0.561000	0.74099	CCA		0.443	C14orf119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071713.3	NM_017924		4	106	0	0	0	1	0	4	106				
XKR3	150165	broad.mit.edu	37	22	17288731	17288731	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:17288731G>A	ENST00000331428.5	-	2	335	c.233C>T	c.(232-234)gCa>gTa	p.A78V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATCCAAAATTGCCCCCACAAT	0.353																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(232-234)gCa>gTa		XK, Kell blood group complex subunit-related family, member 3							87.0	81.0	83.0					22																	17288731		1831	4080	5911	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288731G>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.233C>T	22.37:g.17288731G>A	ENSP00000331704:p.Ala78Val						p.A78V	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	335	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	78					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.233C>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	1.418	-0.573607	0.03882	.	.	ENSG00000172967	ENST00000331428	T	0.63255	-0.03	0.539	-1.08	0.09936	.	0.162297	0.40728	U	0.001030	T	0.37892	0.1020	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	10	0.18710	T	0.47	.	6.824	0.23872	0.2495:0.0:0.7505:0.0	.	78	Q5GH77	XKR3_HUMAN	V	78	ENSP00000331704:A78V	ENSP00000331704:A78V	A	-	2	0	XKR3	15668731	0.033000	0.19621	0.005000	0.12908	0.051000	0.14879	-1.336000	0.02660	-1.932000	0.01053	-2.365000	0.00237	GCA		0.353	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		31	39	0	0	0	1	0	31	39				
GPR137C	283554	broad.mit.edu	37	14	53100612	53100612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:53100612C>T	ENST00000321662.6	+	6	1060	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	354						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CAATCCAAGACGATATGATAG	0.388																																						ENST00000321662.6																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8						c.(1060-1062)Cga>Tga		G protein-coupled receptor 137C							118.0	113.0	114.0					14																	53100612		1894	4123	6017	SO:0001587	stop_gained	283554					integral to membrane		g.chr14:53100612C>T	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1060C>T	14.37:g.53100612C>T	ENSP00000315106:p.Arg354*						p.R354*	NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN			6	1060	+	Breast(41;0.0716)		354					Q86SM2	Nonsense_Mutation	SNP	ENST00000321662.6	37	c.1060C>T	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541773|5.541773	0.96474|0.96474	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71039	.|0.3293	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68557	.|-0.5377	.|4	0.02654|.	T|.	1|.	-11.7225|-11.7225	14.6804|14.6804	0.69012|0.69012	0.1452:0.8548:0.0:0.0|0.1452:0.8548:0.0:0.0	.|.	.|.	.|.	.|.	X|M	354|323	.|.	ENSP00000315106:R354X|.	R|T	+|+	1|2	2|0	GPR137C|GPR137C	52170362|52170362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.291000|4.291000	0.59025|0.59025	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.388	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		14	26	0	0	0	1	0	14	26				
UBE3C	9690	broad.mit.edu	37	7	157041158	157041158	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:157041158G>A	ENST00000348165.5	+	19	2938	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	860	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACCACCTCGCCTCCCTAGA	0.507																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(2578-2580)Gcc>Acc		ubiquitin protein ligase E3C							146.0	146.0	146.0					7																	157041158		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041158G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2578G>A	7.37:g.157041158G>A	ENSP00000309198:p.Ala860Thr						p.A860T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2938	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	860			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2578G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250496	0.80024	.	.	ENSG00000009335	ENST00000348165	T	0.57436	0.4	5.74	5.74	0.90152	HECT (4);	0.046455	0.85682	D	0.000000	T	0.69333	0.3099	M	0.69523	2.12	0.80722	D	1	D;P	0.56968	0.978;0.854	P;P	0.60473	0.875;0.809	T	0.63084	-0.6716	10	0.22109	T	0.4	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	860;713	Q15386;B4DHJ9	UBE3C_HUMAN;.	T	860	ENSP00000309198:A860T	ENSP00000309198:A860T	A	+	1	0	UBE3C	156733919	1.000000	0.71417	0.950000	0.38849	0.040000	0.13550	9.360000	0.97119	2.702000	0.92279	0.655000	0.94253	GCC		0.507	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		10	134	0	0	0	1	0	10	134				
LRRC7	57554	broad.mit.edu	37	1	70257825	70257825	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:70257825C>T	ENST00000035383.5	+	2	319	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	LRRC7_ENST00000310961.5_Missense_Mutation_p.L102F|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.L135F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	97						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTAAAGAACTCGACATCAG	0.308																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(304-306)Ctc>Ttc		leucine rich repeat containing 7							83.0	91.0	88.0					1																	70257825		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257825C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.289C>T	1.37:g.70257825C>T	ENSP00000035383:p.Leu97Phe					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L97F|LRRC7_ENST00000370958.1_Missense_Mutation_p.L135F	p.L102F			Q96NW7	LRRC7_HUMAN			5	722	+			97					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.304C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905225	0.72868	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.61158	0.13;0.74;0.83	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76881	-0.2795	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.9138:0.0:0.0862	.	97;135	Q96NW7;B1AKT2	LRRC7_HUMAN;.	F	102;135;97;97	ENSP00000309245:L102F;ENSP00000359997:L135F;ENSP00000035383:L97F	ENSP00000035383:L97F	L	+	1	0	LRRC7	70030413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.180000	0.50895	2.683000	0.91414	0.561000	0.74099	CTC		0.308	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		22	43	0	0	0	1	0	22	43				
MLNR	2862	broad.mit.edu	37	13	49795147	49795147	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:49795147C>T	ENST00000218721.1	+	1	674	c.674C>T	c.(673-675)gCg>gTg	p.A225V	MLNR_ENST00000398307.1_Missense_Mutation_p.A225V	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	225					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CCCGAGACCGCGGAGGCCGCG	0.751																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(673-675)gCg>gTg		motilin receptor							11.0	13.0	12.0					13																	49795147		2078	4047	6125	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795147C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.674C>T	13.37:g.49795147C>T	ENSP00000218721:p.Ala225Val					MLNR_ENST00000218721.1_Missense_Mutation_p.A225V	p.A225V			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	674	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	225						Missense_Mutation	SNP	ENST00000218721.1	37	c.674C>T	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	c	14.95	2.687861	0.48097	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.69435	-0.4;-0.4	3.72	0.794	0.18638	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40619	0.1124	L	0.29908	0.895	0.09310	N	1	P	0.38300	0.626	B	0.25987	0.065	T	0.20338	-1.0278	9	0.13108	T	0.6	-1.4869	3.9894	0.09530	0.1866:0.5916:0.0:0.2217	.	225	O43193	MTLR_HUMAN	V	225	ENSP00000218721:A225V;ENSP00000381352:A225V	ENSP00000218721:A225V	A	+	2	0	MLNR	48693148	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.030000	0.12308	-0.218000	0.10018	0.457000	0.33378	GCG		0.751	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		12	13	0	0	0	1	0	12	13				
PCDHGB4	8641	broad.mit.edu	37	5	140768945	140768945	+	Silent	SNP	G	G	A	rs574837458		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140768945G>A	ENST00000519479.1	+	1	1494	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_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	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)			AGCAGCGGGAGCTGTCATCCT	0.617													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17333	0.0		0.0	False		,,,				2504	0.0					ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1492-1494)gaG>gaA									59.0	66.0	63.0					5																	140768945		2013	4167	6180	SO:0001819	synonymous_variant	0							g.chr5:140768945G>A	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.1494G>A	5.37:g.140768945G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.E498E	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1494	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1494G>A	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		33	56	0	0	0	1	0	33	56				
SLC46A3	283537	broad.mit.edu	37	13	29292061	29292061	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29292061C>T	ENST00000266943.6	-	2	444	c.75G>A	c.(73-75)acG>acA	p.T25T	SLC46A3_ENST00000380814.4_Silent_p.T25T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	25					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAACATATTGCGTTGTCAGTG	0.378																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(73-75)acG>acA		solute carrier family 46, member 3							131.0	132.0	132.0					13																	29292061		2203	4300	6503	SO:0001819	synonymous_variant	283537				transmembrane transport	integral to membrane		g.chr13:29292061C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.75G>A	13.37:g.29292061C>T						SLC46A3_ENST00000380814.4_Silent_p.T25T	p.T25T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	444	-		Lung SC(185;0.0367)	25					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	ENST00000266943.6	37	c.75G>A	CCDS9332.1																																																																																				0.378	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		31	52	0	0	0	1	0	31	52				
WDR91	29062	broad.mit.edu	37	7	134889022	134889022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:134889022G>A	ENST00000354475.4	-	6	920	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	WDR91_ENST00000485942.1_5'UTR|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000344400.5_Nonsense_Mutation_p.Q297*|WDR91_ENST00000423565.1_Nonsense_Mutation_p.Q262*	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	297										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGCTTACCTGACCACCGAAG	0.577																																						ENST00000354475.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(889-891)Cag>Tag		WD repeat domain 91							49.0	49.0	49.0					7																	134889022		2203	4300	6503	SO:0001587	stop_gained	29062							g.chr7:134889022G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.889C>T	7.37:g.134889022G>A	ENSP00000346466:p.Gln297*					WDR91_ENST00000423565.1_Nonsense_Mutation_p.Q262*|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Nonsense_Mutation_p.Q297*	p.Q297*	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			6	920	-			297					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Nonsense_Mutation	SNP	ENST00000354475.4	37	c.889C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583254	0.86748	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	.	.	.	5.4	5.4	0.78164	.	0.158059	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-8.5019	16.9779	0.86319	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;262	.	ENSP00000340877:Q297X	Q	-	1	0	WDR91	134539562	1.000000	0.71417	0.941000	0.38009	0.162000	0.22319	5.980000	0.70516	2.548000	0.85928	0.655000	0.94253	CAG		0.577	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		10	16	0	0	0	1	0	10	16				
MXRA5	25878	broad.mit.edu	37	X	3240297	3240297	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:3240297G>A	ENST00000217939.6	-	5	3583	c.3429C>T	c.(3427-3429)agC>agT	p.S1143S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1143						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGGTGAGTGCTCATGGTGG	0.532																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3427-3429)agC>agT		matrix-remodelling associated 5							109.0	99.0	102.0					X																	3240297		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240297G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3429C>T	X.37:g.3240297G>A							p.S1143S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3583	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1143					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3429C>T	CCDS14124.1																																																																																				0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	20	0	0	0	1	0	9	20				
HERC2	8924	broad.mit.edu	37	15	28538078	28538078	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:28538078C>A	ENST00000261609.7	-	4	386	c.278G>T	c.(277-279)aGg>aTg	p.R93M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R93M(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGACTTGGCCCTATATATAGG	0.413																																						ENST00000261609.7																			1	Substitution - Missense(1)	p.R93M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(277-279)aGg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							46.0	46.0	46.0					15																	28538078		2203	4297	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28538078C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.278G>T	15.37:g.28538078C>A	ENSP00000261609:p.Arg93Met						p.R93M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	4	386	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	93						Missense_Mutation	SNP	ENST00000261609.7	37	c.278G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797552	0.31777	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	4.78	4.78	0.61160	.	0.166881	0.43919	D	0.000512	T	0.23846	0.0577	N	0.08118	0	0.34048	D	0.655819	P	0.44090	0.826	B	0.40199	0.322	T	0.38672	-0.9650	10	0.48119	T	0.1	.	11.3557	0.49615	0.0:0.9167:0.0:0.0833	.	93	O95714	HERC2_HUMAN	M	93	ENSP00000261609:R93M	ENSP00000261609:R93M	R	-	2	0	HERC2	26211673	0.052000	0.20516	0.674000	0.29902	0.673000	0.39480	1.028000	0.30128	2.209000	0.71365	0.650000	0.86243	AGG		0.413	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	11	1	0	3.07112e-06	1	3.18879e-06	10	11				
MATK	4145	broad.mit.edu	37	19	3784338	3784338	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3784338C>T	ENST00000310132.6	-	4	642	c.244G>A	c.(244-246)Gag>Aag	p.E82K	MATK_ENST00000585778.1_Missense_Mutation_p.E82K|MATK_ENST00000395045.2_Missense_Mutation_p.E83K|MATK_ENST00000395040.2_Missense_Mutation_p.E41K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	82	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCACCTCGCAGGCCTCC	0.697																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(244-246)Gag>Aag		megakaryocyte-associated tyrosine kinase							20.0	23.0	22.0					19																	3784338		2199	4296	6495	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784338C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.244G>A	19.37:g.3784338C>T	ENSP00000308734:p.Glu82Lys					MATK_ENST00000395040.2_Missense_Mutation_p.E41K|MATK_ENST00000585778.1_Missense_Mutation_p.E82K|MATK_ENST00000395045.2_Missense_Mutation_p.E83K	p.E82K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	4	642	-		Hepatocellular(1079;0.137)	82			SH3.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.244G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	11.44	1.640669	0.29157	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.52295	0.67;0.67;0.67	4.81	4.81	0.61882	Src homology-3 domain (4);	0.378221	0.26623	N	0.023343	T	0.44623	0.1302	L	0.60012	1.86	0.32424	N	0.548948	P;P;P	0.51449	0.945;0.945;0.945	B;B;B	0.42245	0.381;0.381;0.381	T	0.59306	-0.7479	10	0.34782	T	0.22	-36.7134	12.7385	0.57238	0.0:0.8347:0.1653:0.0	.	82;83;82	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	K	83;82;41	ENSP00000378485:E83K;ENSP00000308734:E82K;ENSP00000378481:E41K	ENSP00000308734:E82K	E	-	1	0	MATK	3735338	0.196000	0.23350	0.976000	0.42696	0.316000	0.28119	0.572000	0.23684	2.219000	0.72066	0.457000	0.33378	GAG		0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		6	3	0	0	0	1	0	6	3				
EDF1	8721	broad.mit.edu	37	9	139757758	139757758	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:139757758C>T	ENST00000224073.1	-	3	300	c.273G>A	c.(271-273)acG>acA	p.T91T	EDF1_ENST00000371649.1_Silent_p.T91T|EDF1_ENST00000371648.4_Silent_p.T91T	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	91	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.|Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTCCTTCTGCGTAAGCCCCT	0.662																																						ENST00000371648.4																			0				lung(1)	1						c.(271-273)acG>acA		endothelial differentiation-related factor 1							130.0	105.0	113.0					9																	139757758		2203	4300	6503	SO:0001819	synonymous_variant	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139757758C>T	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.273G>A	9.37:g.139757758C>T						EDF1_ENST00000371649.1_Silent_p.T91T|EDF1_ENST00000224073.1_Silent_p.T91T	p.T91T	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	3	280	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	91			HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.		Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	c.273G>A	CCDS7011.1																																																																																				0.662	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			19	22	0	0	0	1	0	19	22				
PCNXL3	399909	broad.mit.edu	37	11	65386062	65386062	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:65386062G>A	ENST00000355703.3	+	6	1768	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	410						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCCCTCGACGGCCCCTGCTT	0.652																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(1228-1230)cGg>cAg		pecanex-like 3 (Drosophila)							23.0	24.0	24.0					11																	65386062		1960	4139	6099	SO:0001583	missense	399909					integral to membrane		g.chr11:65386062G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.1229G>A	11.37:g.65386062G>A	ENSP00000347931:p.Arg410Gln						p.R410Q	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			6	1768	+			410					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.1229G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895426	0.33442	.	.	ENSG00000197136	ENST00000355703	T	0.01015	5.44	5.0	1.87	0.25490	.	0.283137	0.18832	N	0.129951	T	0.00754	0.0025	L	0.32530	0.975	0.20403	N	0.999904	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.12766	T	0.61	.	4.8293	0.13432	0.1955:0.176:0.6285:0.0	.	410	Q9H6A9	PCX3_HUMAN	Q	410	ENSP00000347931:R410Q	ENSP00000347931:R410Q	R	+	2	0	PCNXL3	65142638	0.271000	0.24162	0.614000	0.29051	0.892000	0.51952	2.306000	0.43673	0.511000	0.28236	0.462000	0.41574	CGG		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		8	8	0	0	0	1	0	8	8				
NUGGC	389643	broad.mit.edu	37	8	27886836	27886836	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:27886836C>T	ENST00000413272.2	-	17	2243	c.2101G>A	c.(2101-2103)Ggc>Agc	p.G701S	NUGGC_ENST00000341513.6_Missense_Mutation_p.G701S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	701					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCAAACATGCCCTCAGCCACC	0.557																																						ENST00000413272.2																			0											c.(2101-2103)Ggc>Agc		nuclear GTPase, germinal center associated							56.0	65.0	62.0					8																	27886836		2027	4194	6221	SO:0001583	missense	389643							g.chr8:27886836C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.2101G>A	8.37:g.27886836C>T	ENSP00000408697:p.Gly701Ser					NUGGC_ENST00000341513.6_Missense_Mutation_p.G701S	p.G701S	NM_001010906.1	NP_001010906.1					17	2243	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.2101G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318671	0.60524	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.13901	2.55;2.55	5.56	5.56	0.83823	.	0.115026	0.64402	D	0.000020	T	0.11110	0.0271	L	0.34521	1.04	0.41399	D	0.987667	B	0.30406	0.278	B	0.24006	0.05	T	0.17258	-1.0375	10	0.22109	T	0.4	-20.7947	15.0246	0.71659	0.0:1.0:0.0:0.0	.	701	Q68CJ6	SLIP_HUMAN	S	701	ENSP00000408697:G701S;ENSP00000345031:G701S	ENSP00000345031:G701S	G	-	1	0	C8orf80	27942755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.958000	0.40402	2.608000	0.88229	0.655000	0.94253	GGC		0.557	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		6	18	0	0	0	1	0	6	18				
HEATR5A	25938	broad.mit.edu	37	14	31763122	31763122	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:31763122C>A	ENST00000389961.3	-	34	5789	c.5790G>T	c.(5788-5790)ctG>ctT	p.L1930L	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Silent_p.L1855L|HEATR5A_ENST00000439727.1_Silent_p.L1643L|HEATR5A_ENST00000543095.2_Silent_p.L1936L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1930										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAACAGTAACCAGTGTTTCTA	0.363																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5806-5808)ctG>ctT		HEAT repeat containing 5A							103.0	90.0	94.0					14																	31763122		1875	4116	5991	SO:0001819	synonymous_variant	25938						binding	g.chr14:31763122C>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5790G>T	14.37:g.31763122C>A						RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.L1643L|HEATR5A_ENST00000389961.3_Silent_p.L1930L|HEATR5A_ENST00000439348.1_Silent_p.L1855L	p.L1936L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	35	5992	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1930					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.5808G>T		.	.	.	.	.	.	.	.	.	.	C	8.739	0.918572	0.17982	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.39	1.19	0.21007	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	-0.1454	3.0317	0.06109	0.3441:0.4146:0.0984:0.1428	.	.	.	.	L	1489	.	.	W	-	2	0	HEATR5A	30832873	0.680000	0.27605	0.997000	0.53966	0.983000	0.72400	-0.102000	0.10956	0.643000	0.30638	0.555000	0.69702	TGG		0.363	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		4	12	1	0	1	1	1	4	12				
LRP8	7804	broad.mit.edu	37	1	53736988	53736988	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:53736988C>T	ENST00000306052.6	-	7	1138	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	LRP8_ENST00000347547.2_Missense_Mutation_p.G176D|LRP8_ENST00000354412.3_Missense_Mutation_p.G217D|LRP8_ENST00000371454.2_Missense_Mutation_p.G346D|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	346	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGTGAGCAGCCGCCATTGTT	0.617																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1036-1038)gGc>gAc		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							77.0	70.0	72.0					1																	53736988		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736988C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1037G>A	1.37:g.53736988C>T	ENSP00000303634:p.Gly346Asp					LRP8_ENST00000347547.2_Missense_Mutation_p.G176D|LRP8_ENST00000354412.3_Missense_Mutation_p.G217D|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.G346D	p.G346D	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			7	1138	-			346			EGF-like 1.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1037G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.755066|2.755066	0.49362|0.49362	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.|D;D;D;D	.|0.98192	.|-4.78;-4.78;-4.78;-4.78	5.01|5.01	4.1|4.1	0.47936|0.47936	.|Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	D|D	0.98595|0.98595	0.9530|0.9530	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.991;0.999	.|D;D;P;D	.|0.97110	.|0.998;1.0;0.902;0.999	D|D	0.99577|0.99577	1.0972|1.0972	5|9	.|0.87932	.|D	.|0	.|.	13.5075|13.5075	0.61491|0.61491	0.0:0.9251:0.0:0.0749|0.0:0.9251:0.0:0.0749	.|.	.|217;176;346;346	.|Q14114-2;Q14114-4;Q14114-3;Q14114	.|.;.;.;LRP8_HUMAN	T|D	35|346;346;217;176	.|ENSP00000303634:G346D;ENSP00000360509:G346D;ENSP00000346391:G217D;ENSP00000334522:G176D	.|ENSP00000303634:G346D	A|G	-|-	1|2	0|0	LRP8|LRP8	53509576|53509576	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.000000|0.000000	0.00434|0.00434	7.609000|7.609000	0.82925|0.82925	1.343000|1.343000	0.45638|0.45638	-0.379000|-0.379000	0.06801|0.06801	GCT|GGC		0.617	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		21	25	0	0	0	1	0	21	25				
SH3BP5	9467	broad.mit.edu	37	3	15311358	15311358	+	Silent	SNP	C	C	T	rs371749855		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:15311358C>T	ENST00000383791.3	-	4	577	c.357G>A	c.(355-357)acG>acA	p.T119T	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	119					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGAAGTCCTGCGTGGCTTTCT	0.577																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(355-357)acG>acA		SH3-domain binding protein 5 (BTK-associated)		C	,	1,4405	2.1+/-5.4	0,1,2202	102.0	106.0	105.0		,357	-10.8	0.7	3		105	0,8600		0,0,4300	no	utr-5,coding-synonymous	SH3BP5	NM_001018009.2,NM_004844.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,119/456	15311358	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15311358C>T	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.357G>A	3.37:g.15311358C>T						SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	p.T119T	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			4	577	-			119					B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.357G>A	CCDS2625.2																																																																																				0.577	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		50	65	0	0	0	1	0	50	65				
TMEM260	54916	broad.mit.edu	37	14	57075837	57075837	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:57075837G>A	ENST00000261556.6	+	6	772	c.650G>A	c.(649-651)gGc>gAc	p.G217D	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.G217D	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	217						integral component of membrane (GO:0016021)											CTCTCCCTGGGCTCTTTGTTG	0.458																																						ENST00000261556.6																			0											c.(649-651)gGc>gAc		transmembrane protein 260							307.0	302.0	304.0					14																	57075837		2203	4300	6503	SO:0001583	missense	54916							g.chr14:57075837G>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.650G>A	14.37:g.57075837G>A	ENSP00000261556:p.Gly217Asp					TMEM260_ENST00000538838.1_Missense_Mutation_p.G217D|TMEM260_ENST00000536419.1_5'UTR	p.G217D	NM_017799.3	NP_060269.3					6	772	+								A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.650G>A	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383968	0.04966	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.44881	1.49;0.91	6.06	5.17	0.71159	.	0.536654	0.22661	N	0.057185	T	0.25382	0.0617	N	0.14661	0.345	0.23661	N	0.997174	B	0.06786	0.001	B	0.10450	0.005	T	0.08534	-1.0717	10	0.21014	T	0.42	-17.4275	11.7508	0.51847	0.1345:0.0:0.8655:0.0	.	217	Q9NX78	CN101_HUMAN	D	217	ENSP00000261556:G217D;ENSP00000441934:G217D	ENSP00000261556:G217D	G	+	2	0	C14orf101	56145590	0.026000	0.19158	0.210000	0.23637	0.372000	0.29890	1.567000	0.36407	2.880000	0.98712	0.650000	0.86243	GGC		0.458	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		9	268	0	0	0	1	0	9	268				
PPP1R10	5514	broad.mit.edu	37	6	30572474	30572474	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:30572474G>C	ENST00000376511.2	-	12	1545	c.993C>G	c.(991-993)agC>agG	p.S331R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	331	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTTGGCTGTGCTTGGTTCTG	0.532																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(991-993)agC>agG		protein phosphatase 1, regulatory subunit 10							324.0	316.0	319.0					6																	30572474		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572474G>C	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.993C>G	6.37:g.30572474G>C	ENSP00000365694:p.Ser331Arg						p.S331R	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			12	1545	-			331			Interaction with TOX4 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.993C>G	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284534	0.23392	.	.	ENSG00000204569	ENST00000376511	T	0.47869	0.83	5.46	4.59	0.56863	.	0.304552	0.40469	N	0.001097	T	0.12518	0.0304	N	0.08118	0	0.39501	D	0.968205	P	0.41313	0.745	B	0.36418	0.224	T	0.07751	-1.0756	10	0.87932	D	0	-19.7744	7.5088	0.27562	0.2498:0.0:0.7502:0.0	.	331	Q96QC0	PP1RA_HUMAN	R	331	ENSP00000365694:S331R	ENSP00000365694:S331R	S	-	3	2	PPP1R10	30680453	0.916000	0.31088	1.000000	0.80357	0.999000	0.98932	0.471000	0.22100	1.311000	0.45024	0.655000	0.94253	AGC		0.532	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		80	101	0	0	0	1	0	80	101				
CAMK1	8536	broad.mit.edu	37	3	9804696	9804696	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:9804696C>A	ENST00000256460.3	-	5	508	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTGTAGAAGCCTTTTTCCACA	0.587																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(331-333)Ggc>Tgc		calcium/calmodulin-dependent protein kinase I							57.0	53.0	54.0					3																	9804696		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804696C>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.331G>T	3.37:g.9804696C>A	ENSP00000256460:p.Gly111Cys					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron	p.G111C	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	508	-	Medulloblastoma(99;0.227)		111			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.331G>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796357	0.90453	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.68624	0.82;-0.34	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87080	0.2165	10	0.87932	D	0	-23.5665	18.4587	0.90731	0.0:1.0:0.0:0.0	.	111	Q14012	KCC1A_HUMAN	C	111;67	ENSP00000256460:G111C;ENSP00000404587:G67C	ENSP00000256460:G111C	G	-	1	0	CAMK1	9779696	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.775000	0.85489	2.357000	0.79964	0.462000	0.41574	GGC		0.587	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		10	11	1	0	1.76689e-08	1	1.86465e-08	10	11				
DUOX2	50506	broad.mit.edu	37	15	45391660	45391660	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:45391660C>T	ENST00000603300.1	-	26	3638	c.3436G>A	c.(3436-3438)Gca>Aca	p.A1146T	DUOX2_ENST00000389039.6_Missense_Mutation_p.A1146T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1146	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACATTGACTGCGTGGCCAGCA	0.537																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3436-3438)Gca>Aca		dual oxidase 2							78.0	63.0	68.0					15																	45391660		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45391660C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3436G>A	15.37:g.45391660C>T	ENSP00000475084:p.Ala1146Thr					DUOX2_ENST00000603300.1_Missense_Mutation_p.A1146T	p.A1146T			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	26	3821	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1146			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3436G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332291	0.41297	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.44	5.44	0.79542	Flavoprotein transmembrane component (1);	0.431830	0.25695	N	0.028918	T	0.25158	0.0611	L	0.31926	0.97	0.09310	N	1	B	0.32203	0.36	B	0.29862	0.108	T	0.20571	-1.0271	9	0.52906	T	0.07	-1.6056	7.0218	0.24918	0.2895:0.63:0.0:0.0806	.	1146	Q9NRD8	DUOX2_HUMAN	T	1146	.	ENSP00000373691:A1146T	A	-	1	0	DUOX2	43178952	0.001000	0.12720	0.336000	0.25522	0.590000	0.36582	0.892000	0.28322	2.561000	0.86390	0.563000	0.77884	GCA		0.537	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		11	10	0	0	0	1	0	11	10				
SLC4A3	6508	broad.mit.edu	37	2	220505562	220505562	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:220505562G>A	ENST00000358055.3	+	22	4011	c.3499G>A	c.(3499-3501)Gca>Aca	p.A1167T	SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1194T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1167T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1194T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1167T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1167	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCATCGCACTGCTCTG	0.652																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3499-3501)Gca>Aca		solute carrier family 4 (anion exchanger), member 3							72.0	57.0	62.0					2																	220505562		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505562G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3499G>A	2.37:g.220505562G>A	ENSP00000350756:p.Ala1167Thr					SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1167T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1194T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1194T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1167T	p.A1167T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	4011	+		Renal(207;0.0183)	1167			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.3499G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161417	0.78226	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	4.83	4.83	0.62350	.	0.203429	0.40908	D	0.000993	T	0.67942	0.2947	L	0.53729	1.69	0.39415	D	0.966825	B;P;P	0.51537	0.301;0.607;0.946	B;B;B	0.40864	0.077;0.122;0.342	T	0.75105	-0.3435	10	0.54805	T	0.06	.	18.3098	0.90195	0.0:0.0:1.0:0.0	.	871;1167;1194	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	T	1167;1167;1194;1194;1167	ENSP00000350756:A1167T;ENSP00000362865:A1167T;ENSP00000273063:A1194T;ENSP00000362867:A1194T;ENSP00000314006:A1167T	ENSP00000273063:A1194T	A	+	1	0	SLC4A3	220213806	0.998000	0.40836	0.751000	0.31187	0.990000	0.78478	7.841000	0.86834	2.396000	0.81511	0.563000	0.77884	GCA		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	17	0	0	0	1	0	8	17				
PCDH7	5099	broad.mit.edu	37	4	30725231	30725231	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:30725231G>A	ENST00000361762.2	+	1	3195	c.2187G>A	c.(2185-2187)tcG>tcA	p.S729S	PCDH7_ENST00000543491.1_Silent_p.S729S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	729	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTACAGTCTCGCTTTTTGTGA	0.473																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2185-2187)tcG>tcA		protocadherin 7							102.0	97.0	99.0					4																	30725231		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725231G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2187G>A	4.37:g.30725231G>A						PCDH7_ENST00000543491.1_Silent_p.S729S	p.S729S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3195	+			729			Cadherin 6.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2187G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	2.343	-0.350746	0.05173	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.04	1.2	0.21068	.	.	.	.	.	T	0.52008	0.1708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	.	5.8257	0.18552	0.0:0.2256:0.4757:0.2987	.	.	.	.	T	419	.	.	A	+	1	0	PCDH7	30334329	0.308000	0.24509	0.999000	0.59377	0.969000	0.65631	-0.443000	0.06862	0.063000	0.16370	-0.262000	0.10625	GCT		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		33	41	0	0	0	1	0	33	41				
XPNPEP2	7512	broad.mit.edu	37	X	128896711	128896711	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:128896711G>A	ENST00000371106.3	+	19	1897	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	569						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GATCCGTCTCGAAGATGTGGC	0.547																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1705-1707)Gaa>Aaa		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							115.0	98.0	103.0					X																	128896711		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128896711G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1705G>A	X.37:g.128896711G>A	ENSP00000360147:p.Glu569Lys						p.E569K	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			19	1897	+			569					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1705G>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273804	0.80580	.	.	ENSG00000122121	ENST00000371106	D	0.85088	-1.94	5.7	5.7	0.88788	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.95277	0.8468	H	0.96970	3.915	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.96795	0.9585	10	0.87932	D	0	-14.4751	17.4383	0.87558	0.0:0.0:1.0:0.0	.	569	O43895	XPP2_HUMAN	K	569	ENSP00000360147:E569K	ENSP00000360147:E569K	E	+	1	0	XPNPEP2	128724392	1.000000	0.71417	0.959000	0.39883	0.455000	0.32408	7.109000	0.77062	2.387000	0.81309	0.594000	0.82650	GAA		0.547	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		26	6	0	0	0	1	0	26	6				
GOLGA2P9	440518	broad.mit.edu	37	19	22780125	22780125	+	RNA	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:22780125A>G	ENST00000600260.1	+	0	203					NR_033899.1																						TGGTGTTCCTACAGGAGTGAA	0.473																																						ENST00000600260.1																			0																																																			0							g.chr19:22780125A>G																													19.37:g.22780125A>G								NR_033899.1						0	203	+									RNA	SNP	ENST00000600260.1	37																																																																																						0.473	CTC-457E21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464572.1			18	35	0	0	0	1	0	18	35				
FAM184A	79632	broad.mit.edu	37	6	119327242	119327242	+	Intron	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:119327242G>T	ENST00000338891.7	-	7	2259				RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000522284.1_Missense_Mutation_p.L519I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						agtagaatgagcccttgttcc	0.413																																						ENST00000522284.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1555-1557)Ctc>Atc		family with sequence similarity 184, member A							60.0	55.0	56.0					6																	119327242		876	1991	2867	SO:0001627	intron_variant	79632							g.chr6:119327242G>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1815+369C>A	6.37:g.119327242G>T						FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000338891.7_Intron	p.L519I			Q8NB25	F184A_HUMAN			8	1930	-			0					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1555C>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202302	0.22121	.	.	ENSG00000111879	ENST00000522284	T	0.26810	1.71	2.78	0.772	0.18510	.	.	.	.	.	T	0.11410	0.0278	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	6	0.87932	D	0	.	4.757	0.13090	0.0:0.2596:0.5014:0.239	.	.	.	.	I	519	ENSP00000429826:L519I	ENSP00000429826:L519I	L	-	1	0	FAM184A	119368941	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.424000	0.07025	0.181000	0.19994	0.655000	0.94253	CTC		0.413	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		7	10	1	0	8.12818e-05	1	8.34155e-05	7	10				
EOGT	285203	broad.mit.edu	37	3	69047213	69047213	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:69047213C>T	ENST00000383701.3	-	10	1522	c.780G>A	c.(778-780)caG>caA	p.Q260Q	EOGT_ENST00000540764.1_Silent_p.Q159Q|EOGT_ENST00000295571.5_Silent_p.Q260Q|EOGT_ENST00000540955.1_Intron	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	260					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TATTAACGTGCTGAGTAATAT	0.383																																						ENST00000383701.3																			0											c.(778-780)caG>caA		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							159.0	140.0	147.0					3																	69047213		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69047213C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.780G>A	3.37:g.69047213C>T						EOGT_ENST00000540764.1_Silent_p.Q159Q|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000295571.5_Silent_p.Q260Q	p.Q260Q	NM_001278689.1	NP_001265618.1					10	1522	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.780G>A																																																																																					0.383	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		54	85	0	0	0	1	0	54	85				
PARK2	5071	broad.mit.edu	37	6	162864373	162864373	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:162864373C>T	ENST00000366898.1	-	2	242	c.140G>A	c.(139-141)gGg>gAg	p.G47E	PARK2_ENST00000366892.1_Missense_Mutation_p.G47E|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.G47E|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.G47E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	47	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCTCCTTCCCTGCGAAAAT	0.597																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(139-141)gGg>gAg		parkin RBR E3 ubiquitin protein ligase							142.0	121.0	128.0					6																	162864373		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864373C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.140G>A	6.37:g.162864373C>T	ENSP00000355865:p.Gly47Glu					PARK2_ENST00000366892.1_Missense_Mutation_p.G47E|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.G47E|PARK2_ENST00000366896.1_Missense_Mutation_p.G47E|PARK2_ENST00000366894.1_5'UTR	p.G47E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	242	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	47			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.140G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670891	0.88348	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.94964	3.605	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.98256	1.0496	10	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	47;47;47;47	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	E	47;47;47;47;46	ENSP00000355865:G47E;ENSP00000355863:G47E;ENSP00000355862:G47E;ENSP00000355858:G47E	ENSP00000355858:G47E	G	-	2	0	PARK2	162784363	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	6.062000	0.71155	2.805000	0.96524	0.655000	0.94253	GGG		0.597	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			11	49	0	0	0	1	0	11	49				
LRRCC1	85444	broad.mit.edu	37	8	86037065	86037065	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:86037065T>C	ENST00000360375.3	+	8	1312	c.1163T>C	c.(1162-1164)tTa>tCa	p.L388S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L368S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	388					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTAAAGAATTATATGTAAGC	0.303																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1102-1104)tTa>tCa		leucine rich repeat and coiled-coil centrosomal protein 1							90.0	92.0	91.0					8																	86037065		1808	4067	5875	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86037065T>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1163T>C	8.37:g.86037065T>C	ENSP00000353538:p.Leu388Ser					LRRCC1_ENST00000360375.3_Missense_Mutation_p.L388S	p.L368S			Q9C099	LRCC1_HUMAN			7	1992	+			388					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1103T>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354368	0.24512	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.33438	1.41;1.42	4.63	4.63	0.57726	.	0.000000	0.32328	N	0.006251	T	0.41994	0.1183	L	0.43923	1.385	0.28750	N	0.901478	D;B;D;B	0.89917	1.0;0.147;1.0;0.342	D;B;D;B	0.85130	0.997;0.082;0.997;0.039	T	0.18555	-1.0333	10	0.16420	T	0.52	-7.3472	10.7403	0.46149	0.0:0.0:0.0:1.0	.	295;368;295;388	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	388;368	ENSP00000353538:L388S;ENSP00000394695:L368S	ENSP00000353538:L388S	L	+	2	0	LRRCC1	86224317	0.991000	0.36638	0.997000	0.53966	0.925000	0.55904	2.016000	0.40971	2.311000	0.77944	0.533000	0.62120	TTA		0.303	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		55	112	0	0	0	1	0	55	112				
MSL3P1	151507	broad.mit.edu	37	2	234774971	234774971	+	RNA	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:234774971G>A	ENST00000438684.1	-	0	1143					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ACAAACAATCGCAGCAAATGT	0.433																																						ENST00000438684.1																			0																				128.0	107.0	114.0					2																	234774971		692	1591	2283			0							g.chr2:234774971G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774971G>A								NR_024322.1						0	1143	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.433	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		16	58	0	0	0	1	0	16	58				
TMEM199	147007	broad.mit.edu	37	17	26687828	26687828	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:26687828C>T	ENST00000292114.3	+	5	579	c.489C>T	c.(487-489)tgC>tgT	p.C163C	TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.7_ENST00000577850.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Silent_p.C163C|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	163						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTTCGTCTGCACTTACCTTG	0.537																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(487-489)tgC>tgT		transmembrane protein 199							93.0	92.0	92.0					17																	26687828		2203	4300	6503	SO:0001819	synonymous_variant	147007					integral to membrane		g.chr17:26687828C>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.489C>T	17.37:g.26687828C>T						TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Silent_p.C163C|CTB-96E2.3_ENST00000591482.1_RNA	p.C163C	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	579	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		163						Silent	SNP	ENST00000292114.3	37	c.489C>T	CCDS11228.1																																																																																				0.537	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		45	78	0	0	0	1	0	45	78				
SOX30	11063	broad.mit.edu	37	5	157078230	157078230	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:157078230A>G	ENST00000265007.6	-	1	1198	c.857T>C	c.(856-858)tTg>tCg	p.L286S	SOX30_ENST00000311371.5_Missense_Mutation_p.L286S|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	286					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTTGGTCAATCTTATCAG	0.562																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(856-858)tTg>tCg		SRY (sex determining region Y)-box 30							81.0	90.0	87.0					5																	157078230		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078230A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.857T>C	5.37:g.157078230A>G	ENSP00000265007:p.Leu286Ser					SOX30_ENST00000311371.5_Missense_Mutation_p.L286S|SOX30_ENST00000519442.1_Intron	p.L286S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1198	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	286					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.857T>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583433	0.28268	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98135	-4.74;-4.34	4.66	4.66	0.58398	.	0.153499	0.30781	N	0.008895	D	0.96719	0.8929	L	0.29908	0.895	0.80722	D	1	D;P	0.61697	0.99;0.948	P;P	0.60236	0.871;0.614	D	0.96676	0.9500	10	0.87932	D	0	.	10.3261	0.43793	0.8359:0.1641:0.0:0.0	.	286;286	O94993-2;O94993	.;SOX30_HUMAN	S	286	ENSP00000309343:L286S;ENSP00000265007:L286S	ENSP00000265007:L286S	L	-	2	0	SOX30	157010808	1.000000	0.71417	0.977000	0.42913	0.066000	0.16364	4.377000	0.59562	1.960000	0.56953	0.377000	0.23210	TTG		0.562	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		34	59	0	0	0	1	0	34	59				
ARHGAP1	392	broad.mit.edu	37	11	46703689	46703689	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:46703689T>C	ENST00000311956.4	-	5	458	c.361A>G	c.(361-363)Aca>Gca	p.T121A		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	121	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TACAGAAGTGTGTAGTCACTC	0.622																																						ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(361-363)Aca>Gca		Rho GTPase activating protein 1							253.0	196.0	216.0					11																	46703689		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46703689T>C	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.361A>G	11.37:g.46703689T>C	ENSP00000310491:p.Thr121Ala						p.T121A	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	5	458	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	121			CRAL-TRIO.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.361A>G	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882152	0.72294	.	.	ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488	T;T	0.64085	-0.08;-0.08	5.1	5.1	0.69264	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.86953	2.85	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	D	0.83894	0.0286	10	0.66056	D	0.02	.	14.8786	0.70513	0.0:0.0:0.0:1.0	.	121	Q07960	RHG01_HUMAN	A	121	ENSP00000310491:T121A;ENSP00000432794:T121A	ENSP00000310491:T121A	T	-	1	0	ARHGAP1	46660265	1.000000	0.71417	0.993000	0.49108	0.233000	0.25261	8.008000	0.88588	1.917000	0.55516	0.402000	0.26972	ACA		0.622	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		34	53	0	0	0	1	0	34	53				
SREBF2	6721	broad.mit.edu	37	22	42263147	42263147	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:42263147G>A	ENST00000361204.4	+	2	567	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	134	Gln-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTcagccccgcccccagccc	0.592																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(400-402)cGc>cAc		sterol regulatory element binding transcription factor 2							77.0	67.0	70.0					22																	42263147		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42263147G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.401G>A	22.37:g.42263147G>A	ENSP00000354476:p.Arg134His						p.R134H	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	567	+			134			Gln-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.401G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100255	0.76983	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54479	0.57	5.07	4.06	0.47325	.	0.133228	0.49305	D	0.000144	T	0.49321	0.1550	N	0.22421	0.69	0.47407	D	0.99941	D	0.67145	0.996	P	0.57846	0.828	T	0.30446	-0.9978	10	0.15952	T	0.53	-19.4754	12.602	0.56503	0.0813:0.0:0.9187:0.0	.	134	Q12772	SRBP2_HUMAN	H	134	ENSP00000354476:R134H	ENSP00000354476:R134H	R	+	2	0	SREBF2	40593093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.534000	0.67167	2.324000	0.78689	0.655000	0.94253	CGC		0.592	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		19	26	0	0	0	1	0	19	26				
AHCYL1	10768	broad.mit.edu	37	1	110559021	110559021	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:110559021G>A	ENST00000369799.5	+	8	1205	c.838G>A	c.(838-840)Gat>Aat	p.D280N	AHCYL1_ENST00000393614.4_Missense_Mutation_p.D233N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D233N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	280					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GAACGTCAATGATTCTGTTAC	0.418																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(838-840)Gat>Aat		adenosylhomocysteinase-like 1							96.0	102.0	100.0					1																	110559021		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110559021G>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.838G>A	1.37:g.110559021G>A	ENSP00000358814:p.Asp280Asn					AHCYL1_ENST00000393614.4_Missense_Mutation_p.D233N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D233N	p.D280N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	8	1205	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	280					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.838G>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145778	0.94603	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.84070	-1.8;-1.8;-1.8	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91929	0.5553	10	0.72032	D	0.01	-6.3055	20.1649	0.98147	0.0:0.0:1.0:0.0	.	280	O43865	SAHH2_HUMAN	N	280;233;233	ENSP00000358814:D280N;ENSP00000352092:D233N;ENSP00000377238:D233N	ENSP00000352092:D233N	D	+	1	0	AHCYL1	110360544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GAT		0.418	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			44	63	0	0	0	1	0	44	63				
PCDHGC3	5098	broad.mit.edu	37	5	140857027	140857027	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:140857027C>T	ENST00000308177.3	+	1	1448	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGTGTCCGACATCAATG	0.507																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1342-1344)tcC>tcT									139.0	140.0	140.0					5																	140857027		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140857027C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1344C>T	5.37:g.140857027C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.S448S	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1448	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1344C>T	CCDS4261.1																																																																																				0.507	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		26	40	0	0	0	1	0	26	40				
ARFGEF2	10564	broad.mit.edu	37	20	47649586	47649586	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47649586C>T	ENST00000371917.4	+	39	5208	c.5208C>T	c.(5206-5208)taC>taT	p.Y1736Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1736					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAATGTACTACCCCTACTTGT	0.398																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(5206-5208)taC>taT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							85.0	75.0	78.0					20																	47649586		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47649586C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5208C>T	20.37:g.47649586C>T							p.Y1736Y	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		39	5208	+			1736					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.5208C>T	CCDS13411.1																																																																																				0.398	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		3	42	0	0	0	1	0	3	42				
FAM169B	283777	broad.mit.edu	37	15	98995239	98995239	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:98995239C>T	ENST00000558256.1	-	5	434	c.185G>A	c.(184-186)gGc>gAc	p.G62D	FAM169B_ENST00000332908.4_Splice_Site_p.G62D	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	62										large_intestine(3)|lung(3)|urinary_tract(1)	7						ACACAGTCTGCCTGCAGAGAA	0.587																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.e5-1		family with sequence similarity 169, member B							67.0	72.0	71.0					15																	98995239		2083	4224	6307	SO:0001630	splice_region_variant	283777							g.chr15:98995239C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.185-1G>A	15.37:g.98995239C>T						FAM169B_ENST00000332908.4_Splice_Site_p.G62_splice	p.G62_splice	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	434	-			62					B5MDL8	Splice_Site	SNP	ENST00000558256.1	37	c.184_splice	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196786	0.58126	.	.	ENSG00000185087	ENST00000332908	T	0.75477	-0.94	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	L	0.61036	1.89	0.51233	D	0.999919	D	0.89917	1.0	D	0.97110	1.0	D	0.86184	0.1608	10	0.87932	D	0	.	16.0773	0.80976	0.0:1.0:0.0:0.0	.	62	Q8N8A8	F169B_HUMAN	D	62	ENSP00000332615:G62D	ENSP00000332615:G62D	G	-	2	0	FAM169B	96812762	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	6.401000	0.73256	2.366000	0.80165	0.650000	0.86243	GGC		0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	Missense_Mutation	8	12	0	0	0	1	0	8	12				
FAM86DP	692099	broad.mit.edu	37	3	75476814	75476814	+	RNA	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:75476814C>T	ENST00000459803.1	-	0	542					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GCCTGTGAGGCCGGCACCACT	0.622																																						ENST00000459803.1																			0																																																			0							g.chr3:75476814C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476814C>T								NR_024241.1						0	542	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.622	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		7	10	0	0	0	1	0	7	10				
SLC8A1	6546	broad.mit.edu	37	2	40657409	40657409	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:40657409C>A	ENST00000403092.1	-	2	45	c.12G>T	c.(10-12)atG>atT	p.M4I	SLC8A1_ENST00000406391.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M4I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000406785.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M4I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M4I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	4					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAATCGCCGCATGTTGTACA	0.428																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(10-12)atG>atT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						62.0	58.0	59.0					2																	40657409		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657409C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.12G>T	2.37:g.40657409C>A	ENSP00000384763:p.Met4Ile					SLC8A1_ENST00000542756.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M4I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M4I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M4I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M4I	p.M4I			P32418	NAC1_HUMAN			2	201	-			4					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.12G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237799	0.22711	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.8;1.8;1.8;1.76;1.76;1.8;1.77;1.76;1.77	5.93	5.93	0.95920	.	0.086699	0.85682	D	0.000000	T	0.44993	0.1320	M	0.75615	2.305	0.50039	D	0.999849	P;B;P;B;P	0.39044	0.656;0.031;0.656;0.187;0.525	P;B;P;B;P	0.48627	0.584;0.187;0.584;0.039;0.48	T	0.30446	-0.9978	10	0.62326	D	0.03	.	17.8301	0.88679	0.0:1.0:0.0:0.0	.	4;4;4;4;4	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	I	4	ENSP00000383886:M4I;ENSP00000440727:M4I;ENSP00000384763:M4I;ENSP00000385678:M4I;ENSP00000385188:M4I;ENSP00000385535:M4I;ENSP00000332931:M4I;ENSP00000384908:M4I;ENSP00000385811:M4I;ENSP00000443515:M4I	ENSP00000332931:M4I	M	-	3	0	SLC8A1	40510913	1.000000	0.71417	0.953000	0.39169	0.344000	0.29017	5.203000	0.65174	2.814000	0.96858	0.563000	0.77884	ATG		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		17	35	1	0	1.15088e-07	1	1.20771e-07	17	35				
ZNF485	220992	broad.mit.edu	37	10	44104711	44104711	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:44104711T>C	ENST00000361807.3	+	4	354	c.160T>C	c.(160-162)Tct>Cct	p.S54P	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.S54P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	54	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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGGGCTTCTCTCTTCCAAACC	0.473																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(160-162)Tct>Cct		zinc finger protein 485							47.0	44.0	45.0					10																	44104711		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44104711T>C	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.160T>C	10.37:g.44104711T>C	ENSP00000354694:p.Ser54Pro					ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.S54P	p.S54P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			4	354	+			54			KRAB.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.160T>C	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	T	7.797	0.712905	0.15306	.	.	ENSG00000198298	ENST00000361807;ENST00000430885;ENST00000374435	T;T;T	0.00792	5.69;5.69;5.69	3.04	1.82	0.25136	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	N	0.11651	0.15	0.09310	N	0.999999	D	0.54964	0.969	B	0.34991	0.193	T	0.55970	-0.8056	9	0.36615	T	0.2	.	6.0735	0.19903	0.0:0.0:0.2661:0.7339	.	54	Q8NCK3	ZN485_HUMAN	P	54	ENSP00000354694:S54P;ENSP00000393570:S54P;ENSP00000363558:S54P	ENSP00000354694:S54P	S	+	1	0	ZNF485	43424717	0.001000	0.12720	0.036000	0.18154	0.582000	0.36321	-0.415000	0.07106	0.346000	0.23899	0.374000	0.22700	TCT		0.473	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		8	10	0	0	0	1	0	8	10				
GALNTL6	442117	broad.mit.edu	37	4	173873302	173873302	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:173873302C>T	ENST00000506823.1	+	10	1921	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R405C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	422					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAGGAGCTGCGCAAGCAGCT	0.587																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1264-1266)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							60.0	61.0	60.0					4																	173873302		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873302C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1264C>T	4.37:g.173873302C>T	ENSP00000423313:p.Arg422Cys					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R405C	p.R422C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1921	+			422					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1264C>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.118153	0.56505	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.75367	-0.93;-0.93	5.36	5.36	0.76844	.	0.073163	0.64402	D	0.000020	D	0.91358	0.7274	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93882	0.7172	10	0.87932	D	0	.	19.4536	0.94878	0.0:1.0:0.0:0.0	.	422	Q49A17	GLTL6_HUMAN	C	422;405	ENSP00000423313:R422C;ENSP00000423827:R405C	ENSP00000423313:R422C	R	+	1	0	GALNTL6	174109877	1.000000	0.71417	0.909000	0.35828	0.346000	0.29079	4.664000	0.61540	2.668000	0.90789	0.478000	0.44815	CGC		0.587	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		16	23	0	0	0	1	0	16	23				
ZNF761	388561	broad.mit.edu	37	19	53958865	53958865	+	RNA	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:53958865C>A	ENST00000454407.1	+	0	1557							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACAAGTCATCCCTTACATGCC	0.428																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							170.0	168.0	168.0					19																	53958865		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958865C>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958865C>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1557	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	178	1	0	0.014758	1	0.0148771	5	178				
RASL10A	10633	broad.mit.edu	37	22	29708154	29708154	+	IGR	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:29708154G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.V345I|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GTCCCTCAGCGTCCTGGGTGG	0.662																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1033-1035)Gtc>Atc		growth arrest-specific 2 like 1							67.0	81.0	77.0					22																	29708154		2012	4149	6161	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708154G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708154G>A						GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.V345I			Q99501	GA2L1_HUMAN			6	1183	+			362					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1033G>A	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	G	3.086	-0.187851	0.06299	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.42131	0.98	3.7	-1.52	0.08637	.	0.458197	0.16575	U	0.208447	T	0.23014	0.0556	.	.	.	0.47862	D	0.999535	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.05037	-1.0910	9	0.27082	T	0.32	-7.3373	4.563	0.12170	0.196:0.0:0.2922:0.5118	.	345;572;572	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	I	571;345	ENSP00000383995:V345I	ENSP00000332834:V571I	V	+	1	0	GAS2L1	28038154	0.406000	0.25344	0.714000	0.30535	0.968000	0.65278	0.789000	0.26886	-0.033000	0.13736	0.491000	0.48974	GTC		0.662	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			58	74	0	0	0	1	0	58	74				
CDS1	1040	broad.mit.edu	37	4	85564217	85564217	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85564217C>T	ENST00000295887.5	+	11	1496	c.1073C>T	c.(1072-1074)gCa>gTa	p.A358V		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CACAGCATTGCACTGTCAACC	0.418																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(1072-1074)gCa>gTa		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							174.0	176.0	175.0					4																	85564217		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85564217C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1073C>T	4.37:g.85564217C>T	ENSP00000295887:p.Ala358Val						p.A358V	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	11	1496	+		Hepatocellular(203;0.114)	358					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1073C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204532	0.22205	.	.	ENSG00000163624	ENST00000295887	T	0.40476	1.03	4.72	4.72	0.59763	.	0.222239	0.45867	D	0.000332	T	0.30510	0.0767	N	0.21097	0.63	0.80722	D	1	B	0.24258	0.1	B	0.28305	0.088	T	0.08472	-1.0720	10	0.07990	T	0.79	-12.667	17.8805	0.88839	0.0:1.0:0.0:0.0	.	358	Q92903	CDS1_HUMAN	V	358	ENSP00000295887:A358V	ENSP00000295887:A358V	A	+	2	0	CDS1	85783241	0.931000	0.31567	0.997000	0.53966	0.005000	0.04900	2.001000	0.40825	2.438000	0.82558	0.655000	0.94253	GCA		0.418	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			46	81	0	0	0	1	0	46	81				
PTBP3	9991	broad.mit.edu	37	9	115024862	115024862	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:115024862C>T	ENST00000374255.2	-	6	600	c.453G>A	c.(451-453)ctG>ctA	p.L151L	PTBP3_ENST00000334318.6_Silent_p.L154L|PTBP3_ENST00000374257.1_Silent_p.L123L|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.L157L|PTBP3_ENST00000343327.2_Silent_p.L56L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	151					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGACAGCCTGCAGTGCAGCTT	0.458																																						ENST00000334318.6																			0											c.(460-462)ctG>ctA		polypyrimidine tract binding protein 3							47.0	47.0	47.0					9																	115024862		2203	4300	6503	SO:0001819	synonymous_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115024862C>T	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.453G>A	9.37:g.115024862C>T						PTBP3_ENST00000343327.2_Silent_p.L56L|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.L157L|PTBP3_ENST00000374255.2_Silent_p.L151L|PTBP3_ENST00000374257.1_Silent_p.L123L	p.L154L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			6	648	-			151					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	c.462G>A	CCDS6784.1																																																																																				0.458	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			15	21	0	0	0	1	0	15	21				
MUC20	200958	broad.mit.edu	37	3	195452857	195452857	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:195452857G>A	ENST00000447234.2	+	2	1509	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L	MUC20_ENST00000320736.6_Silent_p.L290L|MUC20_ENST00000445522.2_Silent_p.L426L|MUC20_ENST00000436408.1_Silent_p.L461L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	461	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CACCAGCTCTGCCTGACTCCA	0.582																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(868-870)ctG>ctA		mucin 20, cell surface associated							62.0	54.0	57.0					3																	195452857		2176	4264	6440	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195452857G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1383G>A	3.37:g.195452857G>A						MUC20_ENST00000445522.2_Silent_p.L426L|MUC20_ENST00000436408.1_Silent_p.L461L|MUC20_ENST00000447234.2_Silent_p.L461L	p.L290L	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	996	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	461		Missing.	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.870G>A																																																																																					0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		7	17	0	0	0	1	0	7	17				
TERT	7015	broad.mit.edu	37	5	1264629	1264629	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1264629G>A	ENST00000310581.5	-	11	2790	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	911	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCAGGGCCTCGTCTTCTACAG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2731-2733)gaC>gaT		telomerase reverse transcriptase							72.0	82.0	78.0					5																	1264629		2114	4212	6326	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264629G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2733C>T	5.37:g.1264629G>A						TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	p.D911D	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2790	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		911			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2733C>T	CCDS3861.2																																																																																				0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			23	22	0	0	0	1	0	23	22				
RASA1	5921	broad.mit.edu	37	5	86672218	86672218	+	Missense_Mutation	SNP	C	C	T	rs370631681		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:86672218C>T	ENST00000274376.6	+	16	2584	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	RASA1_ENST00000512763.1_Missense_Mutation_p.R507C|RASA1_ENST00000506290.1_Missense_Mutation_p.R508C|RASA1_ENST00000456692.2_Missense_Mutation_p.R497C|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	674	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTATTTATGCGCTGCCAGTT	0.413																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1489-1491)Cgc>Tgc		RAS p21 protein activator (GTPase activating protein) 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	69.0	67.0	68.0		2020,1489	5.3	1.0	5		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASA1	NM_002890.2,NM_022650.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	674/1048,497/871	86672218	1,13005	2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672218C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2020C>T	5.37:g.86672218C>T	ENSP00000274376:p.Arg674Cys					RASA1_ENST00000506290.1_Missense_Mutation_p.R508C|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.R507C|RASA1_ENST00000274376.6_Missense_Mutation_p.R674C	p.R497C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	16	1604	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	674			PH.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1489C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596828	0.46318	0.0	1.16E-4	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047298	0.85682	D	0.000000	T	0.61248	0.2332	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.17667	0.013;0.006;0.013;0.022;0.023	B;B;B;B;B	0.09377	0.002;0.002;0.002;0.004;0.003	T	0.55335	-0.8157	10	0.37606	T	0.19	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	508;507;508;497;674	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	C	674;707;497;507;508	ENSP00000274376:R674C;ENSP00000411221:R497C;ENSP00000422008:R507C;ENSP00000420905:R508C	ENSP00000274376:R674C	R	+	1	0	RASA1	86707974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.499000	0.84300	0.563000	0.77884	CGC		0.413	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	24	0	0	0	1	0	14	24				
FAM81A	145773	broad.mit.edu	37	15	59808970	59808970	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:59808970G>T	ENST00000288228.5	+	8	1100	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	305										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GAAGATGCACGGGCGAATCAC	0.463																																						ENST00000288228.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(913-915)Ggg>Tgg		family with sequence similarity 81, member A							106.0	103.0	104.0					15																	59808970		1977	4157	6134	SO:0001583	missense	145773							g.chr15:59808970G>T		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.913G>T	15.37:g.59808970G>T	ENSP00000288228:p.Gly305Trp						p.G305W	NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN			8	1100	+			305						Missense_Mutation	SNP	ENST00000288228.5	37	c.913G>T	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364389	0.61513	.	.	ENSG00000157470	ENST00000288228	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.275562	0.31872	N	0.006934	T	0.65933	0.2739	N	0.08118	0	0.36378	D	0.861717	D	0.60160	0.987	P	0.54460	0.753	T	0.74380	-0.3684	10	0.62326	D	0.03	-29.1442	11.0837	0.48074	0.0847:0.0:0.9153:0.0	.	305	Q8TBF8	FA81A_HUMAN	W	305	ENSP00000288228:G305W	ENSP00000288228:G305W	G	+	1	0	FAM81A	57596262	0.997000	0.39634	0.994000	0.49952	0.785000	0.44390	2.785000	0.47782	2.827000	0.97445	0.650000	0.86243	GGG		0.463	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		4	7	1	0	0.00909568	1	0.00918626	4	7				
TM9SF2	9375	broad.mit.edu	37	13	100206622	100206622	+	Missense_Mutation	SNP	C	C	T	rs370181033		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:100206622C>T	ENST00000376387.4	+	14	1743	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	518					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCGTTCTACACGAAGCCCTTG	0.403																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(1552-1554)aCg>aTg		transmembrane 9 superfamily member 2		C	MET/THR	0,4406		0,0,2203	162.0	153.0	156.0		1553	5.9	1.0	13		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	TM9SF2	NM_004800.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	518/664	100206622	1,13005	2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100206622C>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1553C>T	13.37:g.100206622C>T	ENSP00000365567:p.Thr518Met						p.T518M	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			14	1743	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		518					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.1553C>T	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296472	0.23650	0.0	1.16E-4	ENSG00000125304	ENST00000376387	T	0.41758	0.99	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.32224	0.0822	L	0.31120	0.905	0.80722	D	1	B;B	0.33777	0.425;0.129	B;B	0.33750	0.169;0.169	T	0.12116	-1.0560	10	0.02654	T	1	-14.6307	20.3539	0.98825	0.0:1.0:0.0:0.0	.	484;518	E9PHW5;Q99805	.;TM9S2_HUMAN	M	518	ENSP00000365567:T518M	ENSP00000365567:T518M	T	+	2	0	TM9SF2	99004623	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.619000	0.83057	2.826000	0.97356	0.655000	0.94253	ACG		0.403	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			30	47	0	0	0	1	0	30	47				
ZNF516	9658	broad.mit.edu	37	18	74091238	74091238	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:74091238C>T	ENST00000443185.2	-	4	3149	c.2832G>A	c.(2830-2832)tcG>tcA	p.S944S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGCTATTGGCCGAGGGCTGCG	0.677																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2830-2832)tcG>tcA		zinc finger protein 516							19.0	24.0	23.0					18																	74091238		1769	3903	5672	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091238C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2832G>A	18.37:g.74091238C>T						ZNF516_ENST00000524431.2_5'UTR	p.S944S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3149	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	944						Silent	SNP	ENST00000443185.2	37	c.2832G>A																																																																																					0.677	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		11	24	0	0	0	1	0	11	24				
AEBP1	165	broad.mit.edu	37	7	44151145	44151145	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:44151145C>T	ENST00000223357.3	+	15	2061	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R161C|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	586	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CACCATCACCCGCACTTACAG	0.602																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(1756-1758)Cgc>Tgc		AE binding protein 1							84.0	70.0	75.0					7																	44151145		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151145C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1756C>T	7.37:g.44151145C>T	ENSP00000223357:p.Arg586Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R161C	p.R586C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			15	2061	+			586			Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1756C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676505	0.88445	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.13196	2.61;2.61	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (2);	0.051865	0.64402	N	0.000001	T	0.46502	0.1396	M	0.88377	2.95	0.58432	D	0.999999	B;D	0.89917	0.175;1.0	B;D	0.81914	0.015;0.995	T	0.55354	-0.8154	10	0.87932	D	0	-30.4662	18.7509	0.91814	0.0:1.0:0.0:0.0	.	161;586	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	586;161	ENSP00000223357:R586C;ENSP00000398878:R161C	ENSP00000223357:R586C	R	+	1	0	AEBP1	44117670	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.182000	0.58310	2.528000	0.85240	0.549000	0.68633	CGC		0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	14	0	0	0	1	0	8	14				
FOXRED2	80020	broad.mit.edu	37	22	36889728	36889728	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:36889728G>A	ENST00000397224.4	-	8	1840	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	FOXRED2_ENST00000366463.3_Missense_Mutation_p.R135C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R583C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R583C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	583					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCAGGAAGCGCCTCAGAGGT	0.547																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1747-1749)Cgc>Tgc		FAD-dependent oxidoreductase domain containing 2							73.0	72.0	72.0					22																	36889728		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36889728G>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1747C>T	22.37:g.36889728G>A	ENSP00000380401:p.Arg583Cys					FOXRED2_ENST00000366463.3_Missense_Mutation_p.R135C|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R583C|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R583C	p.R583C	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			8	1840	-			583					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.1747C>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681647	0.88542	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000366463;ENST00000397223	T;T;T;T	0.55413	2.14;2.14;0.52;2.14	5.37	5.37	0.77165	.	0.047929	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.78679	-0.2110	10	0.87932	D	0	-31.5623	19.1715	0.93580	0.0:0.0:1.0:0.0	.	583	Q8IWF2	FXRD2_HUMAN	C	583;583;135;583	ENSP00000380401:R583C;ENSP00000216187:R583C;ENSP00000382543:R135C;ENSP00000380400:R583C	ENSP00000216187:R583C	R	-	1	0	FOXRED2	35219674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.164000	0.77533	2.541000	0.85698	0.650000	0.86243	CGC		0.547	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		18	37	0	0	0	1	0	18	37				
OR4K17	390436	broad.mit.edu	37	14	20586419	20586419	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:20586419G>A	ENST00000315543.4	+	1	854	c.854G>A	c.(853-855)tGc>tAc	p.C285Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCATGCATCTTTATC	0.423																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(853-855)tGc>tAc		olfactory receptor, family 4, subfamily K, member 17							122.0	110.0	114.0					14																	20586419		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586419G>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.854G>A	14.37:g.20586419G>A	ENSP00000319197:p.Cys285Tyr						p.C285Y	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	854	+	all_cancers(95;0.00108)		257					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.854G>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	4.596	0.110743	0.08780	.	.	ENSG00000176230	ENST00000315543	T	0.00069	8.77	2.86	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37348	U	0.002132	T	0.00241	0.0007	M	0.87971	2.92	0.09310	N	1	P	0.37061	0.58	B	0.38500	0.275	T	0.13176	-1.0519	10	0.87932	D	0	.	10.263	0.43438	0.0:0.0:0.8025:0.1975	.	257	Q8NGC6	OR4KH_HUMAN	Y	285	ENSP00000319197:C285Y	ENSP00000319197:C285Y	C	+	2	0	OR4K17	19656259	0.000000	0.05858	0.562000	0.28370	0.175000	0.22909	0.002000	0.13061	1.579000	0.49836	0.404000	0.27445	TGC		0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			18	30	0	0	0	1	0	18	30				
CSK	1445	broad.mit.edu	37	15	75091727	75091727	+	Silent	SNP	C	C	T	rs551800678		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:75091727C>T	ENST00000220003.9	+	5	1086	c.357C>T	c.(355-357)tgC>tgT	p.C119C	CSK_ENST00000439220.2_Silent_p.C119C|CSK_ENST00000309470.9_Silent_p.C119C|CSK_ENST00000567571.1_Silent_p.C119C	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	119	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						ACACGCTGTGCGTGAGCTGCG	0.607																																						ENST00000220003.9																			0				central_nervous_system(1)|lung(2)	3						c.(355-357)tgC>tgT		c-src tyrosine kinase							74.0	58.0	63.0					15																	75091727		2197	4296	6493	SO:0001819	synonymous_variant	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091727C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.357C>T	15.37:g.75091727C>T						CSK_ENST00000567571.1_Silent_p.C119C|CSK_ENST00000439220.2_Silent_p.C119C|CSK_ENST00000309470.9_Silent_p.C119C	p.C119C	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN			5	1086	+			119			SH2.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.357C>T	CCDS10269.1																																																																																				0.607	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		4	21	0	0	0	1	0	4	21				
CRIPAK	285464	broad.mit.edu	37	4	1389587	1389587	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:1389587C>T	ENST00000324803.4	+	1	4248	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	430	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R430C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTTTTTAATACGTTTTTATGT	0.443																																						ENST00000324803.4																			2	Substitution - Missense(2)	p.R430C(2)	lung(1)|breast(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1288-1290)Cgt>Tgt		cysteine-rich PAK1 inhibitor							135.0	130.0	132.0					4																	1389587		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389587C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1288C>T	4.37:g.1389587C>T	ENSP00000323978:p.Arg430Cys						p.R430C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4248	+			430			Interaction with PAK1.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1288C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122718	0.20877	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25912	1.77	1.47	-0.439	0.12264	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.50136	0.632	T	0.13229	-1.0517	9	0.87932	D	0	.	3.9842	0.09507	0.0:0.5459:0.0:0.4541	.	430	Q8N1N5	CRPAK_HUMAN	C	430;372	ENSP00000323978:R430C	ENSP00000323978:R430C	R	+	1	0	CRIPAK	1379587	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.902000	0.04088	-0.197000	0.10350	-0.229000	0.12294	CGT		0.443	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		20	39	0	0	0	1	0	20	39				
CRY2	1408	broad.mit.edu	37	11	45883694	45883694	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:45883694C>T	ENST00000443527.2	+	5	821	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	CRY2_ENST00000417225.2_Missense_Mutation_p.R185W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	246					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCACTTGGAACGGAAGGTATG	0.537																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(799-801)Cgg>Tgg		cryptochrome 2 (photolyase-like)							75.0	56.0	63.0					11																	45883694		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45883694C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.799C>T	11.37:g.45883694C>T	ENSP00000406751:p.Arg267Trp					CRY2_ENST00000417225.2_Missense_Mutation_p.R185W	p.R267W	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			5	821	+			246			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.799C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717862	0.89205	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.62	4.65	0.58169	.	0.049851	0.85682	D	0.000000	D	0.84023	0.5381	M	0.90977	3.165	0.48696	D	0.999691	D;D	0.89917	1.0;0.999	D;D	0.75020	0.973;0.985	D	0.87097	0.2176	9	0.87932	D	0	-28.9915	13.2219	0.59892	0.2401:0.7599:0.0:0.0	.	267;185	B4DZD6;Q49AN0-2	.;.	W	185;267	.	ENSP00000397419:R185W	R	+	1	2	CRY2	45840270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.335000	0.65929	2.651000	0.90000	0.563000	0.77884	CGG		0.537	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		8	22	0	0	0	1	0	8	22				
TMEM225	338661	broad.mit.edu	37	11	123753985	123753985	+	Missense_Mutation	SNP	C	C	T	rs77654932		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:123753985C>T	ENST00000375026.2	-	4	754	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	180					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E180K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCTTACATTCGTTGTCAGAT	0.443																																						ENST00000375026.2																			1	Substitution - Missense(1)	p.E180K(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(538-540)Gaa>Aaa		transmembrane protein 225							110.0	102.0	105.0					11																	123753985		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753985C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.538G>A	11.37:g.123753985C>T	ENSP00000364166:p.Glu180Lys						p.E180K	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	754	-			180						Missense_Mutation	SNP	ENST00000375026.2	37	c.538G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546781	0.27652	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.34472	1.39;1.36	3.31	-2.27	0.06846	.	1.519590	0.03921	N	0.283618	T	0.23649	0.0572	N	0.20986	0.625	0.09310	N	1	B	0.25105	0.118	B	0.14578	0.011	T	0.20107	-1.0285	10	0.38643	T	0.18	2.5938	7.8188	0.29276	0.0:0.3397:0.0:0.6603	.	180	Q6GV28	TM225_HUMAN	K	180;130	ENSP00000364166:E180K;ENSP00000431282:E130K	ENSP00000364166:E180K	E	-	1	0	TMEM225	123259195	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.601000	0.05687	-0.512000	0.06505	-0.345000	0.07892	GAA		0.443	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		22	34	0	0	0	1	0	22	34				
AQP9	366	broad.mit.edu	37	15	58430862	58430862	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:58430862C>T	ENST00000219919.4	+	1	468	c.98C>T	c.(97-99)aCg>aTg	p.T33M	AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T33M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	33					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCTTGGGCACGTTCATCTTG	0.458																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(97-99)aCg>aTg		aquaporin 9							136.0	138.0	137.0					15																	58430862		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58430862C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.98C>T	15.37:g.58430862C>T	ENSP00000219919:p.Thr33Met					AQP9_ENST00000558772.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T33M|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000559443.1_3'UTR	p.T33M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	1	468	+			33					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.98C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974708	0.53720	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.27256	1.68;1.68	5.98	5.98	0.97165	Aquaporin-like (2);	0.246210	0.36002	N	0.002853	T	0.57519	0.2059	M	0.92880	3.355	0.58432	D	0.999995	D	0.58970	0.984	P	0.60236	0.871	T	0.64630	-0.6362	10	0.51188	T	0.08	.	15.9562	0.79889	0.0:1.0:0.0:0.0	.	33	O43315	AQP9_HUMAN	M	33	ENSP00000219919:T33M;ENSP00000441390:T33M	ENSP00000219919:T33M	T	+	2	0	AQP9	56218154	0.995000	0.38212	0.972000	0.41901	0.171000	0.22731	4.218000	0.58554	2.843000	0.97960	0.650000	0.86243	ACG		0.458	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		24	46	0	0	0	1	0	24	46				
BMP1	649	broad.mit.edu	37	8	22052051	22052051	+	Missense_Mutation	SNP	G	G	A	rs561063512		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:22052051G>A	ENST00000306385.5	+	11	2061	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	BMP1_ENST00000397816.3_Missense_Mutation_p.R464Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R464Q|BMP1_ENST00000397814.3_Missense_Mutation_p.R464Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	464	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCATCTGGCGGATCCAGGTG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19278	0.0		0.0	False		,,,				2504	0.001					ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1390-1392)cGg>cAg		bone morphogenetic protein 1							113.0	102.0	106.0					8																	22052051		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22052051G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1391G>A	8.37:g.22052051G>A	ENSP00000305714:p.Arg464Gln					BMP1_ENST00000397816.3_Missense_Mutation_p.R464Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.R464Q|BMP1_ENST00000306349.8_Missense_Mutation_p.R464Q	p.R464Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	11	2061	+			464			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1391G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419360	0.62622	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.28	4.4	0.53042	CUB (5);	0.000000	0.35151	U	0.003416	T	0.28001	0.0690	L	0.31578	0.945	0.80722	D	1	P;D;P;P	0.55800	0.699;0.973;0.841;0.788	B;P;B;B	0.49361	0.274;0.608;0.196;0.227	T	0.02491	-1.1151	10	0.16420	T	0.52	.	6.0938	0.20008	0.2523:0.0:0.7477:0.0	.	464;537;464;464	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	Q	464	ENSP00000305714:R464Q;ENSP00000380917:R464Q;ENSP00000306121:R464Q;ENSP00000380915:R464Q	ENSP00000306121:R464Q	R	+	2	0	BMP1	22107996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.101000	0.71479	2.450000	0.82876	0.561000	0.74099	CGG		0.562	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		14	31	0	0	0	1	0	14	31				
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	347	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1039-1041)cGc>cAc		brevican							85.0	87.0	86.0					1																	156618630		2203	4299	6502	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618630G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1040G>A	1.37:g.156618630G>A	ENSP00000331210:p.Arg347His					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R347H	p.R347H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1376	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		347			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1040G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480788	0.84747	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12465	2.68;2.68	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.102141	0.41194	D	0.000921	T	0.23532	0.0569	M	0.67517	2.055	0.51482	D	0.999921	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.86	T	0.00605	-1.1648	10	0.87932	D	0	-17.4487	10.0728	0.42343	0.093:0.0:0.907:0.0	.	347;347	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	288;347;347	ENSP00000331210:R347H;ENSP00000354925:R347H	ENSP00000255029:R288H	R	+	2	0	BCAN	154885254	0.780000	0.28664	1.000000	0.80357	0.984000	0.73092	3.661000	0.54503	2.453000	0.82957	0.462000	0.41574	CGC		0.572	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		91	10	0	0	0	1	0	91	10				
OR2T4	127074	broad.mit.edu	37	1	248525007	248525007	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:248525007C>T	ENST00000366475.1	+	1	125	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGGATGGTCGGATTTCATC	0.473																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(124-126)tCg>tTg		olfactory receptor, family 2, subfamily T, member 4							135.0	118.0	124.0					1																	248525007		2203	4296	6499	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525007C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.125C>T	1.37:g.248525007C>T	ENSP00000355431:p.Ser42Leu						p.S42L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	125	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		42					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.125C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	7.551	0.662759	0.14645	.	.	ENSG00000196944	ENST00000366475	T	0.00458	7.28	1.89	0.788	0.18601	.	1.641650	0.04124	N	0.316887	T	0.00356	0.0011	L	0.31845	0.965	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.47114	-0.9142	10	0.54805	T	0.06	.	3.2704	0.06879	0.2536:0.5829:0.0:0.1634	.	42	Q8NH00	OR2T4_HUMAN	L	42	ENSP00000355431:S42L	ENSP00000355431:S42L	S	+	2	0	OR2T4	246591630	0.799000	0.28903	0.048000	0.18961	0.023000	0.10783	2.211000	0.42825	-0.196000	0.10366	0.306000	0.20318	TCG		0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		38	12	0	0	0	1	0	38	12				
JOSD1	9929	broad.mit.edu	37	22	39084972	39084972	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:39084972C>T	ENST00000216039.5	-	3	1156	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	159	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TCCACTCGGGCATCTTGAGTT	0.537																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(475-477)atG>atA		Josephin domain containing 1							127.0	107.0	114.0					22																	39084972		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39084972C>T		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.477G>A	22.37:g.39084972C>T	ENSP00000216039:p.Met159Ile						p.M159I	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1156	-	Melanoma(58;0.04)		159			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.477G>A	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525569|2.525569	0.44969|0.44969	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.41065	.|1.01	5.64|5.64	2.28|2.28	0.28536|0.28536	.|.	.|0.531595	.|0.24089	.|N	.|0.041660	T|T	0.23370|0.23370	0.0565|0.0565	N|N	0.14661|0.14661	0.345|0.345	0.44816|0.44816	D|D	0.997829|0.997829	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.05178|0.05178	-1.0901|-1.0901	5|10	.|0.52906	.|T	.|0.07	.|.	7.5908|7.5908	0.28019|0.28019	0.1349:0.727:0.0:0.1381|0.1349:0.727:0.0:0.1381	.|.	.|159	.|Q15040	.|JOS1_HUMAN	T|I	111|159	.|ENSP00000216039:M159I	.|ENSP00000216039:M159I	A|M	-|-	1|3	0|0	JOSD1|JOSD1	37414918|37414918	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.887000|0.887000	0.51463|0.51463	1.213000|1.213000	0.32407|0.32407	0.740000|0.740000	0.32651|0.32651	0.655000|0.655000	0.94253|0.94253	GCC|ATG		0.537	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		36	53	0	0	0	1	0	36	53				
EP300	2033	broad.mit.edu	37	22	41554480	41554480	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:41554480C>T	ENST00000263253.7	+	19	4785	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1189					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTCGTGATGCCACTTATTAC	0.498			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(3565-3567)gCc>gTc		E1A binding protein p300							124.0	87.0	100.0					22																	41554480		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41554480C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3566C>T	22.37:g.41554480C>T	ENSP00000263253:p.Ala1189Val						p.A1189V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			19	4785	+			1189					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3566C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080683	0.94050	.	.	ENSG00000100393	ENST00000263253	D	0.85411	-1.98	5.95	5.95	0.96441	Domain of unknown function DUF902, CREBbp (1);	0.000000	0.48286	D	0.000193	D	0.92202	0.7527	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92017	0.5623	10	0.87932	D	0	-7.7629	20.3719	0.98893	0.0:1.0:0.0:0.0	.	1189	Q09472	EP300_HUMAN	V	1189	ENSP00000263253:A1189V	ENSP00000263253:A1189V	A	+	2	0	EP300	39884426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.026000	0.70873	2.826000	0.97356	0.491000	0.48974	GCC		0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		6	19	0	0	0	1	0	6	19				
NCOR2	9612	broad.mit.edu	37	12	124831384	124831384	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:124831384G>A	ENST00000405201.1	-	31	4085	c.4085C>T	c.(4084-4086)tCc>tTc	p.S1362F	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1352F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S923F|NCOR2_ENST00000356219.3_Missense_Mutation_p.S1369F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1352F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1353F			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1370					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCACGTAGGACCGAGGGAT	0.687																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4105-4107)tCc>tTc		nuclear receptor corepressor 2							8.0	10.0	9.0					12																	124831384		2032	4151	6183	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124831384G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4085C>T	12.37:g.124831384G>A	ENSP00000384018:p.Ser1362Phe					NCOR2_ENST00000404621.1_Missense_Mutation_p.S1352F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1352F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1362F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S923F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1353F	p.S1369F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	32	4261	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1370					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4106C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520582	0.44866	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;1.37	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000046	T	0.61337	0.2339	L	0.51422	1.61	0.44085	D	0.996849	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.991;0.996	T	0.64101	-0.6486	10	0.87932	D	0	-32.5464	18.7282	0.91722	0.0:0.0:1.0:0.0	.	1352;1353;1362	C9J0Q5;C9J239;C9JFD3	.;.;.	F	1362;1352;1369;1353;1361;923;1352;1370	ENSP00000384018:S1362F;ENSP00000384202:S1352F;ENSP00000348551:S1369F;ENSP00000380513:S1353F;ENSP00000385618:S923F;ENSP00000400281:S1352F;ENSP00000402808:S1370F	ENSP00000348551:S1369F	S	-	2	0	NCOR2	123397337	1.000000	0.71417	0.974000	0.42286	0.340000	0.28889	7.190000	0.77755	2.433000	0.82419	0.491000	0.48974	TCC		0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	3	0	0	0	1	0	5	3				
MATK	4145	broad.mit.edu	37	19	3778309	3778309	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:3778309C>T	ENST00000310132.6	-	14	1794	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	MATK_ENST00000585778.1_Missense_Mutation_p.A465T|MATK_ENST00000395045.2_Missense_Mutation_p.A467T|MATK_ENST00000395040.2_Missense_Mutation_p.A425T	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). {ECO:0000305}.	cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGCGGGCGGGCTCTGCC	0.716																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(1396-1398)Gcc>Acc		megakaryocyte-associated tyrosine kinase							19.0	23.0	21.0					19																	3778309		2191	4283	6474	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778309C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1396G>A	19.37:g.3778309C>T	ENSP00000308734:p.Ala466Thr					MATK_ENST00000395040.2_Missense_Mutation_p.A425T|MATK_ENST00000585778.1_Missense_Mutation_p.A465T|MATK_ENST00000395045.2_Missense_Mutation_p.A467T	p.A466T	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1794	-		Hepatocellular(1079;0.137)	466	ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703).		Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1396G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	1.949	-0.441808	0.04604	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82711	-1.64;-1.64;-1.64	3.68	-1.51	0.08664	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.471455	0.20942	N	0.082902	T	0.69405	0.3107	L	0.37897	1.145	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.57917	-0.7728	10	0.51188	T	0.08	-16.0575	5.728	0.18024	0.1403:0.5776:0.0:0.2821	.	466;467;466	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	T	467;466;425	ENSP00000378485:A467T;ENSP00000308734:A466T;ENSP00000378481:A425T	ENSP00000308734:A466T	A	-	1	0	MATK	3729309	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.193000	0.17116	-0.047000	0.13423	-0.219000	0.12488	GCC		0.716	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		13	23	0	0	0	1	0	13	23				
ARID1A	8289	broad.mit.edu	37	1	27101587	27101587	+	Silent	SNP	G	G	A	rs148936933	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:27101587G>A	ENST00000324856.7	+	18	5240	c.4869G>A	c.(4867-4869)tcG>tcA	p.S1623S	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.S1240S|ARID1A_ENST00000457599.2_Silent_p.S1406S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1623					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)		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)		TACCTGCCTCGCACATAGCAC	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								g|||	7	0.00139776	0.0045	0.0014	5008	,	,		17323	0.0		0.0	False		,,,				2504	0.0					ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(4867-4869)tcG>tcA		AT rich interactive domain 1A (SWI-like)		A	,	12,4394	19.1+/-41.9	0,12,2191	68.0	70.0	70.0		4869,4218	-10.0	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARID1A	NM_006015.4,NM_139135.2	,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,	1623/2286,1406/2069	27101587	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:27101587G>A	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.4869G>A	1.37:g.27101587G>A						ARID1A_ENST00000374152.2_Silent_p.S1240S|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Silent_p.S1406S	p.S1623S	NM_006015.4	NP_006006.3	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)	18	5240	+		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)	1623					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4869G>A	CCDS285.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	1.301	-0.604835	0.03717	0.002724	0.0	ENSG00000117713	ENST00000430799	.	.	.	5.01	-10.0	0.00425	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59327	-0.7475	4	.	.	.	-4.2824	9.3895	0.38363	0.6162:0.0719:0.2397:0.0723	.	.	.	.	T	520	.	.	A	+	1	0	ARID1A	26974174	0.000000	0.05858	0.104000	0.21259	0.847000	0.48162	-4.283000	0.00260	-2.659000	0.00420	-1.908000	0.00523	GCA		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		25	28	0	0	0	1	0	25	28				
ESYT3	83850	broad.mit.edu	37	3	138191607	138191607	+	Missense_Mutation	SNP	G	G	A	rs559046448	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:138191607G>A	ENST00000389567.4	+	18	2329	c.2143G>A	c.(2143-2145)Gca>Aca	p.A715T		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	715					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCCCCATTCGCATGGCCGCC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		18917	0.002		0.0	False		,,,				2504	0.0					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2143-2145)Gca>Aca		extended synaptotagmin-like protein 3							86.0	96.0	93.0					3																	138191607		2079	4212	6291	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191607G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2143G>A	3.37:g.138191607G>A	ENSP00000374218:p.Ala715Thr						p.A715T	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2329	+			715					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2143G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913050	0.33815	.	.	ENSG00000158220	ENST00000389567	T	0.37584	1.19	4.97	4.02	0.46733	.	0.350621	0.25555	N	0.029876	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	B	0.28208	0.203	B	0.19666	0.026	T	0.03662	-1.1015	10	0.18276	T	0.48	-17.6577	9.6355	0.39804	0.0:0.0:0.777:0.2229	.	715	A0FGR9	ESYT3_HUMAN	T	715	ENSP00000374218:A715T	ENSP00000374218:A715T	A	+	1	0	ESYT3	139674297	0.047000	0.20315	0.997000	0.53966	0.981000	0.71138	0.941000	0.29005	2.580000	0.87095	0.462000	0.41574	GCA		0.577	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		28	39	0	0	0	1	0	28	39				
PLEK2	26499	broad.mit.edu	37	14	67854066	67854066	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:67854066C>T	ENST00000216446.4	-	9	1182	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	348	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TTTTTGATAGCTTCAATCCAC	0.478																																						ENST00000216446.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(1042-1044)Gct>Act		pleckstrin 2							239.0	206.0	217.0					14																	67854066		2203	4300	6503	SO:0001583	missense	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67854066C>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.1042G>A	14.37:g.67854066C>T	ENSP00000216446:p.Ala348Thr						p.A348T	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	9	1182	-			348			PH 2.		Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	c.1042G>A	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583849	0.96578	.	.	ENSG00000100558	ENST00000216446	T	0.79247	-1.25	5.84	5.84	0.93424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91422	0.5159	10	0.87932	D	0	-19.0563	18.3244	0.90248	0.0:1.0:0.0:0.0	.	348	Q9NYT0	PLEK2_HUMAN	T	348	ENSP00000216446:A348T	ENSP00000216446:A348T	A	-	1	0	PLEK2	66923819	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.630000	0.74272	2.768000	0.95171	0.650000	0.86243	GCT		0.478	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			40	56	0	0	0	1	0	40	56				
REEP1	65055	broad.mit.edu	37	2	86509339	86509339	+	Missense_Mutation	SNP	G	G	A	rs121918262		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:86509339G>A	ENST00000165698.5	-	2	202	c.59C>T	c.(58-60)gCg>gTg	p.A20V	REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	20			A -> E (in SPG31; loss of function mutation; shows severely altered localization to numerous punctate small structures throughout the cytoplasm and no localization to the endoplasmic reticulum; does not colocalize with ATL1). {ECO:0000269|PubMed:16826527, ECO:0000269|PubMed:20718791}.		cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGAATAATACGCAGGGTAAAG	0.388																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13	GRCh37	CM063094	REEP1	M	rs121918262	c.(58-60)gCg>gTg		receptor accessory protein 1							170.0	166.0	167.0					2																	86509339		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86509339G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.59C>T	2.37:g.86509339G>A	ENSP00000165698:p.Ala20Val					REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V	p.A20V	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			2	202	-			20		A -> E (in SPG31).			B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.59C>T	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845369	0.91197	.	.	ENSG00000068615	ENST00000165698;ENST00000541910;ENST00000538924;ENST00000437769;ENST00000453231	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	4.35	4.35	0.52113	.	0.114838	0.64402	D	0.000013	D	0.96756	0.8941	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.966	D	0.97114	0.9806	10	0.56958	D	0.05	.	15.8492	0.78912	0.0:0.0:1.0:0.0	.	20;20	B7Z4D7;Q9H902	.;REEP1_HUMAN	V	20;20;27;20;27	ENSP00000165698:A20V;ENSP00000442681:A20V;ENSP00000438346:A27V;ENSP00000401140:A20V;ENSP00000392197:A27V	ENSP00000165698:A20V	A	-	2	0	REEP1	86362850	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.399000	0.79935	2.263000	0.75096	0.549000	0.68633	GCG		0.388	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		56	95	0	0	0	1	0	56	95				
CDC42BPB	9578	broad.mit.edu	37	14	103406213	103406213	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:103406213G>A	ENST00000361246.2	-	33	4951	c.4663C>T	c.(4663-4665)Cgg>Tgg	p.R1555W	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAGACGAACCGCCTTTTGCTC	0.647																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(4663-4665)Cgg>Tgg		CDC42 binding protein kinase beta (DMPK-like)							171.0	173.0	173.0					14																	103406213		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406213G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4663C>T	14.37:g.103406213G>A	ENSP00000355237:p.Arg1555Trp						p.R1555W	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4951	-		Melanoma(154;0.155)	1555						Missense_Mutation	SNP	ENST00000361246.2	37	c.4663C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503249	0.44558	.	.	ENSG00000198752	ENST00000361246	T	0.72167	-0.63	4.29	3.35	0.38373	.	0.178214	0.48767	N	0.000172	T	0.68118	0.2966	M	0.83118	2.625	0.47407	D	0.999412	B	0.23650	0.089	B	0.18263	0.021	T	0.67436	-0.5671	10	0.87932	D	0	.	5.7736	0.18267	0.1073:0.0:0.564:0.3287	.	1555	Q9Y5S2	MRCKB_HUMAN	W	1555	ENSP00000355237:R1555W	ENSP00000355237:R1555W	R	-	1	2	CDC42BPB	102475966	1.000000	0.71417	0.833000	0.33012	0.721000	0.41392	3.836000	0.55813	0.854000	0.35336	0.655000	0.94253	CGG		0.647	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		73	101	0	0	0	1	0	73	101				
PLEKHH2	130271	broad.mit.edu	37	2	43937194	43937194	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:43937194G>T	ENST00000282406.4	+	12	2142	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	678					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTCCACAGACACGGAGTA	0.388																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2032-2034)Gac>Tac		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							136.0	131.0	133.0					2																	43937194		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937194G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2032G>T	2.37:g.43937194G>T	ENSP00000282406:p.Asp678Tyr						p.D678Y	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			12	2142	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	678					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2032G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449470	0.84101	.	.	ENSG00000152527	ENST00000282406	T	0.76448	-1.02	5.23	5.23	0.72850	.	0.051111	0.85682	D	0.000000	D	0.84946	0.5585	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.984;0.999;1.0	D	0.86329	0.1697	10	0.72032	D	0.01	-22.3848	18.7989	0.92008	0.0:0.0:1.0:0.0	.	678;115;678	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	Y	678	ENSP00000282406:D678Y	ENSP00000282406:D678Y	D	+	1	0	PLEKHH2	43790698	1.000000	0.71417	0.942000	0.38095	0.992000	0.81027	9.355000	0.97087	2.423000	0.82170	0.563000	0.77884	GAC		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		38	58	1	0	2.19358e-23	1	2.44412e-23	38	58				
EIF2AK4	440275	broad.mit.edu	37	15	40290965	40290965	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:40290965G>A	ENST00000263791.5	+	20	2945	c.2902G>A	c.(2902-2904)Gat>Aat	p.D968N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D940N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	968	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACTTTGACGATGGAGAGCA	0.348																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2902-2904)Gat>Aat		eukaryotic translation initiation factor 2 alpha kinase 4							110.0	100.0	103.0					15																	40290965		1821	4084	5905	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40290965G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2902G>A	15.37:g.40290965G>A	ENSP00000263791:p.Asp968Asn					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D940N	p.D968N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	20	2945	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	968			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2902G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102223	0.56183	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.25085	1.82;1.82	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162693	0.56097	D	0.000038	T	0.18173	0.0436	N	0.25957	0.775	0.42919	D	0.994283	B	0.19817	0.039	B	0.14023	0.01	T	0.06679	-1.0813	10	0.22109	T	0.4	-25.9771	12.8356	0.57771	0.074:0.0:0.926:0.0	.	968	Q9P2K8	E2AK4_HUMAN	N	968;940	ENSP00000263791:D968N;ENSP00000372174:D940N	ENSP00000263791:D968N	D	+	1	0	EIF2AK4	38078257	1.000000	0.71417	0.984000	0.44739	0.961000	0.63080	4.089000	0.57685	2.941000	0.99782	0.655000	0.94253	GAT		0.348	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			14	69	0	0	0	1	0	14	69				
LILRB2	10288	broad.mit.edu	37	19	54778648	54778648	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:54778648G>A	ENST00000391749.4	-	14	1957	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y	LILRB2_ENST00000391748.1_Silent_p.Y561Y|LILRB2_ENST00000434421.1_Silent_p.Y446Y|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Silent_p.Y561Y	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	562					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGCTGGGCGTAGGTCACAT	0.652																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1681-1683)taC>taT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							93.0	88.0	90.0					19																	54778648		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778648G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1686C>T	19.37:g.54778648G>A						LILRB2_ENST00000434421.1_Silent_p.Y446Y|LILRB2_ENST00000391749.4_Silent_p.Y562Y|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Silent_p.Y561Y	p.Y561Y	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1810	-	Ovarian(34;0.19)		562					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1683C>T	CCDS12886.1																																																																																				0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			14	28	0	0	0	1	0	14	28				
RBPJL	11317	broad.mit.edu	37	20	43940962	43940962	+	Silent	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43940962T>C	ENST00000343694.3	+	6	618	c.546T>C	c.(544-546)ggT>ggC	p.G182G	RBPJL_ENST00000372741.3_Silent_p.G182G|RBPJL_ENST00000372743.1_Silent_p.G182G	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	182					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GGGAGCTGGGTACCTTCCACA	0.622																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(544-546)ggT>ggC		recombination signal binding protein for immunoglobulin kappa J region-like							30.0	33.0	32.0					20																	43940962		2203	4299	6502	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940962T>C	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.546T>C	20.37:g.43940962T>C						RBPJL_ENST00000372743.1_Silent_p.G182G|RBPJL_ENST00000372741.3_Silent_p.G182G	p.G182G	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			6	618	+		Myeloproliferative disorder(115;0.0122)	182					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	37	c.546T>C	CCDS13349.1																																																																																				0.622	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		7	8	0	0	0	1	0	7	8				
RLTPR	146206	broad.mit.edu	37	16	67683981	67683981	+	Silent	SNP	C	C	T	rs199978795		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:67683981C>T	ENST00000334583.6	+	22	2440	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	RLTPR_ENST00000545661.1_Silent_p.R668R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	704					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGAACAACCGCGCAGACCCTG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18446	0.001		0.0	False		,,,				2504	0.0					ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2110-2112)cgC>cgT		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							69.0	78.0	75.0					16																	67683981		2076	4196	6272	SO:0001819	synonymous_variant	146206							g.chr16:67683981C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2112C>T	16.37:g.67683981C>T						RLTPR_ENST00000545661.1_Silent_p.R668R	p.R704R	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	22	2440	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	704					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.2112C>T	CCDS45513.1																																																																																				0.597	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		3	12	0	0	0	1	0	3	12				
KRT40	125115	broad.mit.edu	37	17	39137273	39137273	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39137273C>T	ENST00000398486.2	-	6	978	c.818G>A	c.(817-819)cGc>cAc	p.R273H	KRT40_ENST00000377755.4_Missense_Mutation_p.R273H	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	273	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AGCTTCTCTGCGATTGTTGGC	0.507																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(817-819)cGc>cAc		keratin 40							196.0	196.0	196.0					17																	39137273		2001	4189	6190	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39137273C>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.818G>A	17.37:g.39137273C>T	ENSP00000381500:p.Arg273His					KRT40_ENST00000398486.2_Missense_Mutation_p.R273H	p.R273H			Q6A162	K1C40_HUMAN			4	852	-		Breast(137;0.00043)	273			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.818G>A	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671502	0.47781	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.4	3.42	0.39159	Filament (1);	0.000000	0.34156	N	0.004218	D	0.91912	0.7439	M	0.85945	2.785	0.38787	D	0.954894	B	0.31859	0.343	P	0.44696	0.458	D	0.91475	0.5200	10	0.56958	D	0.05	.	11.0432	0.47844	0.0:0.8504:0.0:0.1496	.	273	Q6A162	K1C40_HUMAN	H	273	ENSP00000366984:R273H;ENSP00000381500:R273H	ENSP00000366984:R273H	R	-	2	0	KRT40	36390799	0.081000	0.21417	1.000000	0.80357	0.788000	0.44548	0.552000	0.23376	0.766000	0.33244	0.655000	0.94253	CGC		0.507	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		52	201	0	0	0	1	0	52	201				
KIF16B	55614	broad.mit.edu	37	20	16387065	16387065	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:16387065C>T	ENST00000354981.2	-	16	1806	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	KIF16B_ENST00000355755.3_Missense_Mutation_p.R550H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R550H|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	550					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATGGTTAAAGCGAAACATATT	0.463																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1648-1650)cGc>cAc		kinesin family member 16B							219.0	198.0	205.0					20																	16387065		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16387065C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1649G>A	20.37:g.16387065C>T	ENSP00000347076:p.Arg550His					KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R550H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R550H	p.R550H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			16	1806	-			550					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1649G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421083	0.96111	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.80653	-1.4;-1.36;-1.36	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	L	0.41824	1.3	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.983	P;P;P;P	0.51974	0.686;0.686;0.686;0.488	D	0.83861	0.0268	10	0.87932	D	0	.	19.1462	0.93469	0.0:1.0:0.0:0.0	.	550;550;550;550	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	550	ENSP00000347076:R550H;ENSP00000347995:R550H;ENSP00000384164:R550H	ENSP00000347076:R550H	R	-	2	0	KIF16B	16335065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.105000	0.77031	2.817000	0.96982	0.563000	0.77884	CGC		0.463	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		24	66	0	0	0	1	0	24	66				
KCNG4	93107	broad.mit.edu	37	16	84270469	84270469	+	Missense_Mutation	SNP	C	C	T	rs560844482		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:84270469C>T	ENST00000308251.4	-	2	691	c.623G>A	c.(622-624)cGc>cAc	p.R208H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R208H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	208					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCATCTCGCGCAGCCGGTT	0.677																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(622-624)cGc>cAc		potassium voltage-gated channel, subfamily G, member 4							27.0	29.0	28.0					16																	84270469		2199	4300	6499	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270469C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.623G>A	16.37:g.84270469C>T	ENSP00000312129:p.Arg208His					KCNG4_ENST00000308251.4_Missense_Mutation_p.R208H	p.R208H			Q8TDN1	KCNG4_HUMAN			2	743	-			208					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.623G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619722	0.87460	.	.	ENSG00000168418	ENST00000308251	D	0.96587	-4.06	5.11	4.16	0.48862	.	0.260978	0.32970	U	0.005437	D	0.97971	0.9332	M	0.87900	2.915	0.43953	D	0.996629	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.946	D	0.97877	1.0289	10	0.48119	T	0.1	.	12.9364	0.58316	0.0:0.9213:0.0:0.0787	.	208;208	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	208	ENSP00000312129:R208H	ENSP00000312129:R208H	R	-	2	0	KCNG4	82827970	0.489000	0.26004	0.840000	0.33206	0.869000	0.49853	3.266000	0.51569	1.143000	0.42306	0.549000	0.68633	CGC		0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		14	23	0	0	0	1	0	14	23				
CENPJ	55835	broad.mit.edu	37	13	25480619	25480619	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:25480619C>T	ENST00000381884.4	-	7	1742	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	CENPJ_ENST00000545981.1_Silent_p.K519K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	519					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TACCTTGTGTCTTATTCCACC	0.453																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1555-1557)aaG>aaA		centromere protein J							73.0	78.0	76.0					13																	25480619		2203	4299	6502	SO:0001819	synonymous_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480619C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1557G>A	13.37:g.25480619C>T						CENPJ_ENST00000545981.1_Silent_p.K519K	p.K519K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1742	-		Lung SC(185;0.0225)|Breast(139;0.0602)	519					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	c.1557G>A	CCDS9310.1																																																																																				0.453	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		28	62	0	0	0	1	0	28	62				
RPLP0	6175	broad.mit.edu	37	12	120637005	120637005	+	Silent	SNP	C	C	T	rs548345807		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:120637005C>T	ENST00000551150.1	-	3	549	c.234G>A	c.(232-234)ctG>ctA	p.L78L	RPLP0_ENST00000392514.4_Silent_p.L78L|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Silent_p.L78L|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000546989.1_Silent_p.L78L|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000228306.4_Silent_p.L78L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGAGGCAGCAGTCTGCAAA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20132	0.0		0.0	False		,,,				2504	0.0					ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(232-234)ctG>ctA		ribosomal protein, large, P0							85.0	86.0	86.0					12																	120637005		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637005C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.234G>A	12.37:g.120637005C>T						RPLP0_ENST00000392514.4_Silent_p.L78L|RPLP0_ENST00000313104.5_Silent_p.L78L|RPLP0_ENST00000228306.4_Silent_p.L78L|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Silent_p.L78L	p.L78L			P05388	RLA0_HUMAN			3	549	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		78					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.234G>A	CCDS9193.1																																																																																				0.527	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		12	19	0	0	0	1	0	12	19				
GSTP1	2950	broad.mit.edu	37	11	67352222	67352222	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:67352222C>T	ENST00000398606.3	+	4	460	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	GSTP1_ENST00000398603.1_Missense_Mutation_p.R71C|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	71	GST N-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TACCATCCTGCGTCACCTGGG	0.612																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(211-213)Cgt>Tgt		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						83.0	92.0	89.0					11																	67352222		2005	4159	6164	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67352222C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.211C>T	11.37:g.67352222C>T	ENSP00000381607:p.Arg71Cys					GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.R71C	p.R71C	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			4	460	+			71			GST N-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.211C>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790259	0.50102	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09163	3.01;3.01	5.65	-3.57	0.04612	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.143985	0.38492	N	0.001670	T	0.33206	0.0855	H	0.95884	3.735	0.43667	D	0.996097	D	0.54601	0.967	P	0.58660	0.843	T	0.54636	-0.8264	9	0.87932	D	0	-17.2282	9.8888	0.41276	0.5263:0.2742:0.1996:0.0	.	71	P09211	GSTP1_HUMAN	C	71	ENSP00000381607:R71C;ENSP00000381604:R71C	ENSP00000381604:R71C	R	+	1	0	GSTP1	67108798	0.974000	0.33945	0.609000	0.28983	0.162000	0.22319	-0.053000	0.11846	-0.232000	0.09811	-0.187000	0.12897	CGT		0.612	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		10	42	0	0	0	1	0	10	42				
ADAMTS1	9510	broad.mit.edu	37	21	28209961	28209961	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:28209961G>A	ENST00000284984.3	-	9	3295	c.2841C>T	c.(2839-2841)agC>agT	p.S947S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	947	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		AAGGATCACAGCTCTCATGAG	0.428																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2839-2841)agC>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 1							120.0	119.0	120.0					21																	28209961		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28209961G>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2841C>T	21.37:g.28209961G>A							p.S947S	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3295	-		Breast(209;0.000962)	947			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2841C>T	CCDS33524.1																																																																																				0.428	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			37	9	0	0	0	1	0	37	9				
MYO3A	53904	broad.mit.edu	37	10	26463214	26463214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:26463214C>T	ENST00000265944.5	+	30	4187	c.4021C>T	c.(4021-4023)Cag>Tag	p.Q1341*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1341					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCAGTGACACAGGCCCAGGA	0.507																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4021-4023)Cag>Tag		myosin IIIA							129.0	130.0	130.0					10																	26463214		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463214C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4021C>T	10.37:g.26463214C>T	ENSP00000265944:p.Gln1341*					MYO3A_ENST00000543632.1_Intron	p.Q1341*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4187	+			1341					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.4021C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	40	8.432266	0.98808	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.63	2.71	0.32032	.	0.584231	0.20198	N	0.097145	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8657	0.29535	0.0:0.4811:0.3812:0.1377	.	.	.	.	X	1341	.	ENSP00000265944:Q1341X	Q	+	1	0	MYO3A	26503220	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.454000	0.21827	0.294000	0.22547	0.563000	0.77884	CAG		0.507	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		23	23	0	0	0	1	0	23	23				
CHD2	1106	broad.mit.edu	37	15	93489284	93489284	+	Silent	SNP	G	G	A	rs144294063		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:93489284G>A	ENST00000394196.4	+	12	2283	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P	CHD2_ENST00000420239.2_Silent_p.P405P|CHD2_ENST00000536619.1_Silent_p.P418P|CHD2_ENST00000557381.1_Silent_p.P405P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	405	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTCGGAAGCCGGCACCCTCAA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0					ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(1213-1215)ccG>ccA		chromodomain helicase DNA binding protein 2		G	,	0,4394		0,0,2197	58.0	61.0	60.0		1215,1215	-2.0	1.0	15	dbSNP_134	60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CHD2	NM_001042572.2,NM_001271.3	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	405/502,405/1829	93489284	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489284G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1215G>A	15.37:g.93489284G>A						CHD2_ENST00000557381.1_Silent_p.P405P|CHD2_ENST00000536619.1_Silent_p.P418P|CHD2_ENST00000420239.2_Silent_p.P405P	p.P405P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2283	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		405			Chromo 2.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.1215G>A	CCDS10374.2																																																																																				0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		35	47	0	0	0	1	0	35	47				
RNPEP	6051	broad.mit.edu	37	1	201972553	201972553	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:201972553C>T	ENST00000295640.4	+	9	1658	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Silent_p.L500L|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	539					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGTCTACTTCCTGGATAAGAT	0.547																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1615-1617)Ctg>Ttg		arginyl aminopeptidase (aminopeptidase B)							74.0	62.0	66.0					1																	201972553		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972553C>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1615C>T	1.37:g.201972553C>T						RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.L500L	p.L539L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1658	+			539					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.1615C>T	CCDS1418.1																																																																																				0.547	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		9	13	0	0	0	1	0	9	13				
DYNC1H1	1778	broad.mit.edu	37	14	102516426	102516426	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:102516426C>T	ENST00000360184.4	+	77	13867	c.13703C>T	c.(13702-13704)gCc>gTc	p.A4568V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4568					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTCAAGGGGCCACGTGCAAC	0.567																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13702-13704)gCc>gTc		dynein, cytoplasmic 1, heavy chain 1							90.0	81.0	84.0					14																	102516426		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516426C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13703C>T	14.37:g.102516426C>T	ENSP00000348965:p.Ala4568Val					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.A4568V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			77	13867	+			4568					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13703C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241962	0.95272	.	.	ENSG00000197102	ENST00000360184	T	0.16196	2.36	5.42	4.53	0.55603	Dynein heavy chain (1);	0.057945	0.64402	N	0.000002	T	0.41766	0.1173	M	0.82923	2.615	0.80722	D	1	D	0.59357	0.985	P	0.61132	0.884	T	0.48198	-0.9056	10	0.87932	D	0	.	14.0454	0.64702	0.0:0.9272:0.0:0.0728	.	4568	Q14204	DYHC1_HUMAN	V	4568	ENSP00000348965:A4568V	ENSP00000348965:A4568V	A	+	2	0	DYNC1H1	101586179	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.601000	0.82783	1.288000	0.44600	0.491000	0.48974	GCC		0.567	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		25	36	0	0	0	1	0	25	36				
AADACL3	126767	broad.mit.edu	37	1	12785858	12785858	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:12785858G>T	ENST00000359318.5	+	4	1153	c.948G>T	c.(946-948)gaG>gaT	p.E316D	AADACL3_ENST00000332530.3_Missense_Mutation_p.E246D	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	316							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATATGGAGGATGGTTTCC	0.493																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(736-738)gaG>gaT		arylacetamide deacetylase-like 3							74.0	72.0	73.0					1																	12785858		1966	4152	6118	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785858G>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.948G>T	1.37:g.12785858G>T	ENSP00000352268:p.Glu316Asp					AADACL3_ENST00000359318.5_Missense_Mutation_p.E316D	p.E246D	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	964	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	316					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.738G>T	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240716	0.22711	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.09630	2.96;2.96	5.54	-1.69	0.08186	Alpha/beta hydrolase fold-3 (1);	0.261229	0.36338	N	0.002652	T	0.10465	0.0256	L	0.54908	1.71	0.21147	N	0.999775	B;B	0.21147	0.025;0.052	B;B	0.31614	0.133;0.059	T	0.27157	-1.0082	10	0.38643	T	0.18	-28.4993	7.4003	0.26960	0.5066:0.115:0.3784:0.0	.	316;246	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	D	246;316	ENSP00000333352:E246D;ENSP00000352268:E316D	ENSP00000333352:E246D	E	+	3	2	AADACL3	12708445	0.567000	0.26626	0.719000	0.30619	0.071000	0.16799	-0.017000	0.12590	-0.274000	0.09232	0.491000	0.48974	GAG		0.493	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		20	37	1	0	1.01871e-10	1	1.09092e-10	20	37				
ADAM20	8748	broad.mit.edu	37	14	70990158	70990158	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:70990158A>G	ENST00000256389.3	-	2	1711	c.1467T>C	c.(1465-1467)tgT>tgC	p.C489C	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GATGTAGAGTACAGTTTAACA	0.443																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1465-1467)tgT>tgC		ADAM metallopeptidase domain 20							133.0	132.0	132.0					14																	70990158		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990158A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1467T>C	14.37:g.70990158A>G						RP11-486O13.4_ENST00000556646.1_lincRNA	p.C489C	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1711	-			439			Disintegrin.		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1467T>C	CCDS32111.1																																																																																				0.443	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			33	58	0	0	0	1	0	33	58				
LMNB2	84823	broad.mit.edu	37	19	2434506	2434506	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2434506G>A	ENST00000582871.1	-	7	1015	c.929C>T	c.(928-930)gCc>gTc	p.A310V	LMNB2_ENST00000325327.3_Missense_Mutation_p.A330V|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	310	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTTCAGCGGCACTGGCCTG	0.667																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(988-990)gCc>gTc		lamin B2							41.0	34.0	36.0					19																	2434506		2201	4297	6498	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434506G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.929C>T	19.37:g.2434506G>A	ENSP00000462730:p.Ala310Val					LMNB2_ENST00000582871.1_Missense_Mutation_p.A310V	p.A330V			Q03252	LMNB2_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)	7	1051	-		Hepatocellular(1079;0.137)	310			Coil 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.989C>T		.	.	.	.	.	.	.	.	.	.	G	17.25	3.342101	0.61073	.	.	ENSG00000176619	ENST00000325327	D	0.88431	-2.38	4.14	4.14	0.48551	Filament (1);	0.115504	0.64402	D	0.000019	D	0.86644	0.5982	L	0.49455	1.56	0.58432	D	0.999998	P	0.43857	0.819	B	0.41666	0.363	D	0.88360	0.2987	10	0.62326	D	0.03	.	14.9833	0.71327	0.0:0.0:1.0:0.0	.	310	Q03252	LMNB2_HUMAN	V	310	ENSP00000327054:A310V	ENSP00000327054:A310V	A	-	2	0	LMNB2	2385506	0.683000	0.27633	0.023000	0.16930	0.209000	0.24338	1.647000	0.37260	1.855000	0.53841	0.561000	0.74099	GCC		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		8	11	0	0	0	1	0	8	11				
CDC42BPG	55561	broad.mit.edu	37	11	64606548	64606548	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:64606548G>T	ENST00000342711.5	-	7	832	c.833C>A	c.(832-834)gCt>gAt	p.A278D		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CAAGGACTCAGCATAGAAGGG	0.607																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(832-834)gCt>gAt		CDC42 binding protein kinase gamma (DMPK-like)							97.0	91.0	93.0					11																	64606548		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606548G>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.833C>A	11.37:g.64606548G>T	ENSP00000345133:p.Ala278Asp						p.A278D	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	832	-			278			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.833C>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661802	0.88154	.	.	ENSG00000171219	ENST00000342711	T	0.23552	1.9	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.37679	0.1012	N	0.17764	0.52	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.30851	-0.9964	10	0.87932	D	0	.	16.7333	0.85440	0.0:0.0:1.0:0.0	.	278	Q6DT37	MRCKG_HUMAN	D	278	ENSP00000345133:A278D	ENSP00000345133:A278D	A	-	2	0	CDC42BPG	64363124	1.000000	0.71417	0.472000	0.27241	0.904000	0.53231	6.689000	0.74562	2.623000	0.88846	0.655000	0.94253	GCT		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		13	18	1	0	4.3838e-07	1	4.58243e-07	13	18				
FBXO33	254170	broad.mit.edu	37	14	39871008	39871008	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:39871008G>A	ENST00000298097.7	-	3	1105	c.768C>T	c.(766-768)tcC>tcT	p.S256S	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	256					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TAAACCCACAGGACAGCCATT	0.408																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(766-768)tcC>tcT		F-box protein 33							71.0	73.0	72.0					14																	39871008		2203	4300	6503	SO:0001819	synonymous_variant	254170							g.chr14:39871008G>A	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.768C>T	14.37:g.39871008G>A						FBXO33_ENST00000554190.1_Intron	p.S256S	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1105	-	Hepatocellular(127;0.213)		256					Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	c.768C>T	CCDS9677.1																																																																																				0.408	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			22	83	0	0	0	1	0	22	83				
PNLIPRP3	119548	broad.mit.edu	37	10	118231318	118231318	+	Missense_Mutation	SNP	G	G	A	rs150059984		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118231318G>A	ENST00000369230.3	+	10	1245	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	367	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAGTGGAAGCGAAGTCACTCA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		15303	0.001		0.0	False		,,,				2504	0.0					ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1099-1101)Gaa>Aaa		pancreatic lipase-related protein 3		G	LYS/GLU	0,4406		0,0,2203	203.0	209.0	207.0		1099	0.4	0.0	10	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNLIPRP3	NM_001011709.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	367/468	118231318	1,13005	2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231318G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1099G>A	10.37:g.118231318G>A	ENSP00000358232:p.Glu367Lys						p.E367K	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1245	+			367			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1099G>A	CCDS31292.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.081	-1.184028	0.01620	0.0	1.16E-4	ENSG00000203837	ENST00000369230	T	0.70045	-0.45	4.18	0.423	0.16463	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	1.065190	0.07477	N	0.903222	T	0.33527	0.0866	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24728	-1.0152	10	0.02654	T	1	.	8.0454	0.30547	0.5355:0.0:0.4645:0.0	.	367	Q17RR3	LIPR3_HUMAN	K	367	ENSP00000358232:E367K	ENSP00000358232:E367K	E	+	1	0	PNLIPRP3	118221308	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.240000	0.18042	-0.022000	0.13986	-1.076000	0.02234	GAA		0.448	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	85	0	0	0	1	0	8	85				
COL16A1	1307	broad.mit.edu	37	1	32157644	32157644	+	Missense_Mutation	SNP	C	C	T	rs200545130	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:32157644C>T	ENST00000373672.3	-	17	1735	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	COL16A1_ENST00000271069.6_Missense_Mutation_p.G407R|COL16A1_ENST00000373668.3_Missense_Mutation_p.G407R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	407	Collagen-like 1.|Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGATGCCTCCGTCGCCCTTC	0.647													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		14209	0.0		0.0	False		,,,				2504	0.0				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1219-1221)Gga>Aga		collagen, type XVI, alpha 1							68.0	75.0	73.0					1																	32157644		2044	4193	6237	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157644C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1219G>A	1.37:g.32157644C>T	ENSP00000362776:p.Gly407Arg					COL16A1_ENST00000373668.3_Missense_Mutation_p.G407R|COL16A1_ENST00000271069.6_Missense_Mutation_p.G407R	p.G407R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	17	1735	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	407			Triple-helical region 9 (COL9) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.1219G>A	CCDS41297.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.10	1.257782	0.22965	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.95	2.99	0.34606	.	0.605156	0.17049	N	0.189008	T	0.76314	0.3970	N	0.01284	-0.91	0.27470	N	0.952897	D;P;P	0.76494	0.999;0.903;0.882	D;B;B	0.63703	0.917;0.273;0.179	T	0.67457	-0.5666	10	0.15952	T	0.53	.	7.3158	0.26499	0.0:0.7273:0.1752:0.0975	.	407;407;407	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	R	407;407;407;126	ENSP00000362776:G407R;ENSP00000271069:G407R;ENSP00000362772:G407R;ENSP00000362771:G126R	ENSP00000271069:G407R	G	-	1	0	COL16A1	31930231	0.010000	0.17322	0.993000	0.49108	0.841000	0.47740	0.663000	0.25053	1.191000	0.43056	0.462000	0.41574	GGA		0.647	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		36	78	0	0	0	1	0	36	78				
PPFIA4	8497	broad.mit.edu	37	1	203025990	203025990	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:203025990G>T	ENST00000447715.2	+	24	2694	c.2253G>T	c.(2251-2253)aaG>aaT	p.K751N	PPFIA4_ENST00000295706.4_Missense_Mutation_p.K267N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.K267N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.K480N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.K267N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.K752N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	751					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAAGCGCAAGGGCATCAAGT	0.622																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2254-2256)aaG>aaT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							44.0	49.0	48.0					1																	203025990		2171	4284	6455	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025990G>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2253G>T	1.37:g.203025990G>T	ENSP00000402576:p.Lys751Asn					PPFIA4_ENST00000272198.6_Missense_Mutation_p.K267N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.K480N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.K267N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.K751N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.K267N	p.K752N			O75335	LIPA4_HUMAN			18	2783	+			267					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2256G>T		.	.	.	.	.	.	.	.	.	.	g	20.2	3.944682	0.73672	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.19	4.22	0.49857	.	0.000000	0.47455	D	0.000228	T	0.70491	0.3230	M	0.84683	2.71	0.58432	D	0.999993	D;D;D;D	0.62365	0.975;0.991;0.987;0.978	P;P;P;P	0.62813	0.866;0.873;0.907;0.696	T	0.74512	-0.3641	10	0.72032	D	0.01	-36.1531	10.1389	0.42723	0.1712:0.0:0.8288:0.0	.	480;751;267;267	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	752;751;267;480;267	ENSP00000356209:K752N;ENSP00000402576:K751N;ENSP00000295706:K267N;ENSP00000400379:K480N;ENSP00000272198:K267N	ENSP00000272198:K267N	K	+	3	2	PPFIA4	201292613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.231000	0.32624	1.283000	0.44513	0.651000	0.88453	AAG		0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		16	19	1	0	2.31682e-05	1	2.39009e-05	16	19				
WDFY3	23001	broad.mit.edu	37	4	85626574	85626574	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:85626574G>A	ENST00000295888.4	-	54	8715	c.8308C>T	c.(8308-8310)Cgg>Tgg	p.R2770W	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2753W	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2770	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTTATACCGCTTCTTATAC	0.403																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(8257-8259)Cgg>Tgg		WD repeat and FYVE domain containing 3							239.0	209.0	219.0					4																	85626574		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85626574G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8308C>T	4.37:g.85626574G>A	ENSP00000295888:p.Arg2770Trp					WDFY3_ENST00000295888.4_Missense_Mutation_p.R2770W	p.R2753W			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	53	8664	-		Hepatocellular(203;0.114)	2770			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8257C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972481	0.74246	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.81415	-1.49;-1.49;-1.49	5.64	4.79	0.61399	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.93949	0.8063	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96365	0.9269	10	0.87932	D	0	.	15.1971	0.73100	0.0:0.0:0.7448:0.2552	.	2770	Q8IZQ1	WDFY3_HUMAN	W	2753;2770;373	ENSP00000318466:R2753W;ENSP00000295888:R2770W;ENSP00000424987:R373W	ENSP00000295888:R2770W	R	-	1	2	WDFY3	85845598	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.620000	0.36976	1.611000	0.50210	0.650000	0.86243	CGG		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		9	99	0	0	0	1	0	9	99				
FOXG1	2290	broad.mit.edu	37	14	29237798	29237798	+	Missense_Mutation	SNP	C	C	T	rs376242569		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:29237798C>T	ENST00000313071.4	+	1	1512	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	FOXG1_ENST00000382535.3_Missense_Mutation_p.A438V	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	438					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCGCCAGGGCCGCGTCCTCC	0.632																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1312-1314)gCc>gTc		forkhead box G1		C	VAL/ALA	0,4406		0,0,2203	64.0	59.0	61.0		1313	4.1	1.0	14		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXG1	NM_005249.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	438/490	29237798	1,13005	2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237798C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1313C>T	14.37:g.29237798C>T	ENSP00000339004:p.Ala438Val					FOXG1_ENST00000313071.4_Missense_Mutation_p.A438V	p.A438V			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1682	+			438					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1313C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165290	0.57476	0.0	1.16E-4	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93953	-3.32;-3.32	4.14	4.14	0.48551	.	0.137858	0.45867	U	0.000336	D	0.92166	0.7516	N	0.08118	0	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	D	0.93323	0.6694	10	0.42905	T	0.14	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	438	P55316	FOXG1_HUMAN	V	438	ENSP00000371975:A438V;ENSP00000339004:A438V	ENSP00000339004:A438V	A	+	2	0	FOXG1	28307549	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.737000	0.68606	2.006000	0.58801	0.491000	0.48974	GCC		0.632	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			24	31	0	0	0	1	0	24	31				
BMS1	9790	broad.mit.edu	37	10	43319071	43319071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:43319071C>T	ENST00000374518.5	+	21	3358	c.3295C>T	c.(3295-3297)Cga>Tga	p.R1099*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1099					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCTTCATGCGAACTTGGTA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3295-3297)Cga>Tga		BMS1 ribosome biogenesis factor							63.0	75.0	70.0					10																	43319071		1356	2309	3665	SO:0001587	stop_gained	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43319071C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3295C>T	10.37:g.43319071C>T	ENSP00000363642:p.Arg1099*						p.R1099*	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			21	3358	+			1099					Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	c.3295C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	41	9.109602	0.99068	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.54	3.58	0.41010	.	0.069209	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8245	0.52259	0.5039:0.4961:0.0:0.0	.	.	.	.	X	1099	.	ENSP00000363642:R1099X	R	+	1	2	BMS1	42639077	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.127000	0.50484	0.896000	0.36366	0.454000	0.30748	CGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		14	35	0	0	0	1	0	14	35				
KRT9	3857	broad.mit.edu	37	17	39723557	39723557	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:39723557C>T	ENST00000246662.4	-	7	1905	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	KRT9_ENST00000588431.1_Missense_Mutation_p.G381R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	614	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				cttcctcctccgtagccgcca	0.532																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1840-1842)Gga>Aga		keratin 9							107.0	97.0	101.0					17																	39723557		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39723557C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1840G>A	17.37:g.39723557C>T	ENSP00000246662:p.Gly614Arg					KRT9_ENST00000588431.1_Missense_Mutation_p.G381R	p.G614R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			7	1905	-		Breast(137;0.000307)	614			Tail.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1840G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	0.576	-0.838904	0.02692	.	.	ENSG00000171403	ENST00000246662	D	0.82167	-1.58	3.33	-0.468	0.12146	.	0.000000	0.32041	N	0.006670	T	0.65344	0.2682	N	0.24115	0.695	0.09310	N	1	B	0.26577	0.153	B	0.15052	0.012	T	0.57406	-0.7817	10	0.87932	D	0	.	5.1408	0.14957	0.0:0.462:0.4093:0.1286	.	614	P35527	K1C9_HUMAN	R	614	ENSP00000246662:G614R	ENSP00000246662:G614R	G	-	1	0	KRT9	36977083	0.293000	0.24371	0.033000	0.17914	0.053000	0.15095	0.618000	0.24373	0.193000	0.20303	0.542000	0.68232	GGA		0.532	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		31	33	0	0	0	1	0	31	33				
RSC1A1	6248	broad.mit.edu	37	1	15987989	15987989	+	Silent	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:15987989C>A	ENST00000345034.1	+	1	1626	c.1626C>A	c.(1624-1626)gtC>gtA	p.V542V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	542					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAAATGTCTGTCCTGATG	0.428																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(1624-1626)gtC>gtA		regulatory solute carrier protein, family 1, member 1							162.0	133.0	143.0					1																	15987989		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987989C>A	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1626C>A	1.37:g.15987989C>A						DDI2_ENST00000480945.1_3'UTR	p.V542V	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1626	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	542					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.1626C>A	CCDS161.1																																																																																				0.428	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		57	72	1	0	1.77205e-36	1	1.98959e-36	57	72				
FMO1	2326	broad.mit.edu	37	1	171251207	171251207	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:171251207A>G	ENST00000354841.4	+	6	1049	c.918A>G	c.(916-918)gtA>gtG	p.V306V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.V243V|FMO1_ENST00000367750.3_Silent_p.V306V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	306					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TAAAAGAGGTAAAGGAAAACT	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(916-918)gtA>gtG		flavin containing monooxygenase 1							106.0	98.0	101.0					1																	171251207		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251207A>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.918A>G	1.37:g.171251207A>G						FMO1_ENST00000367750.3_Silent_p.V306V|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.V243V	p.V306V			Q01740	FMO1_HUMAN			6	1049	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		306					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.918A>G	CCDS1294.1																																																																																				0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		28	34	0	0	0	1	0	28	34				
EXOC4	60412	broad.mit.edu	37	7	133580444	133580444	+	Silent	SNP	C	C	T	rs34995232		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:133580444C>T	ENST00000253861.4	+	12	1856	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C	EXOC4_ENST00000539845.1_Silent_p.C508C|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.C219C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	609					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACATGGTGTGCGTGAAGCTCC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1825-1827)tgC>tgT		exocyst complex component 4							178.0	147.0	157.0					7																	133580444		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133580444C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1827C>T	7.37:g.133580444C>T						EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.C219C|EXOC4_ENST00000539845.1_Silent_p.C508C	p.C609C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			12	1856	+		Esophageal squamous(399;0.129)	609					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.1827C>T	CCDS5829.1																																																																																				0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	52	0	0	0	1	0	9	52				
DNAH17	8632	broad.mit.edu	37	17	76464776	76464776	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:76464776C>T	ENST00000585328.1	-	55	8810	c.8686G>A	c.(8686-8688)Gtc>Atc	p.V2896I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V2887I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2887	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGGACTTGACTTGGGGTCGC	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8659-8661)Gtc>Atc		dynein, axonemal, heavy chain 17							76.0	78.0	77.0					17																	76464776		1999	4178	6177	SO:0001583	missense	8632							g.chr17:76464776C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8686G>A	17.37:g.76464776C>T	ENSP00000465516:p.Val2896Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V2896I	p.V2887I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8783	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8659G>A		.	.	.	.	.	.	.	.	.	.	C	16.92	3.254831	0.59212	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.53857	0.6	4.84	4.84	0.62591	.	.	.	.	.	T	0.69169	0.3081	M	0.81179	2.53	0.33302	D	0.564901	.	.	.	.	.	.	T	0.80353	-0.1418	7	0.72032	D	0.01	.	14.4792	0.67567	0.1473:0.8527:0.0:0.0	.	.	.	.	I	2896;2887	ENSP00000374490:V2887I	ENSP00000300671:V2896I	V	-	1	0	DNAH17	73976371	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.770000	0.62309	2.246000	0.74042	0.650000	0.86243	GTC		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		16	30	0	0	0	1	0	16	30				
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	C	T	rs374253994		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Silent_p.R73R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(502-504)cgC>cgT		transcription factor Dp-1		C		0,4406		0,0,2203	113.0	107.0	109.0		504	-8.6	0.9	13		109	1,8599		0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/411	114288234	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114288234C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.504C>T	13.37:g.114288234C>T		TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Silent_p.R73R|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R	p.R168R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	716	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	168					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.504C>T	CCDS9538.1																																																																																				0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		18	74	0	0	0	1	0	18	74				
C3AR1	719	broad.mit.edu	37	12	8211772	8211772	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:8211772G>A	ENST00000307637.4	-	2	1213	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	337					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T337M(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCTAGTGATCGTTATTGCCAC	0.488																																						ENST00000307637.4																			1	Substitution - Missense(1)	p.T337M(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1009-1011)aCg>aTg		complement component 3a receptor 1							153.0	142.0	146.0					12																	8211772		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211772G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1010C>T	12.37:g.8211772G>A	ENSP00000302079:p.Thr337Met						p.T337M	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1213	-			337					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1010C>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189766	0.57909	.	.	ENSG00000171860	ENST00000307637	T	0.38240	1.15	5.79	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.262420	0.29892	N	0.010937	T	0.57460	0.2055	M	0.75777	2.31	0.20638	N	0.999876	D	0.76494	0.999	D	0.65773	0.938	T	0.54622	-0.8266	10	0.66056	D	0.02	.	12.855	0.57880	0.0786:0.0:0.9214:0.0	.	337	Q16581	C3AR_HUMAN	M	337	ENSP00000302079:T337M	ENSP00000302079:T337M	T	-	2	0	C3AR1	8103039	0.195000	0.23338	0.047000	0.18901	0.096000	0.18686	0.574000	0.23714	1.466000	0.48025	-0.137000	0.14449	ACG		0.488	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			26	44	0	0	0	1	0	26	44				
PTPRM	5797	broad.mit.edu	37	18	8387204	8387204	+	Silent	SNP	C	C	T	rs376481019		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:8387204C>T	ENST00000332175.8	+	29	5177	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRM_ENST00000400053.4_Silent_p.G1318G|PTPRM_ENST00000444013.1_Silent_p.G1167G|PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTACAATGGCGGGGAAGGCC	0.552																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4138-4140)ggC>ggT		protein tyrosine phosphatase, receptor type, M		T	,	0,4406		0,0,2203	86.0	74.0	78.0		4179,4140	-9.6	0.0	18		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1393/1466,1380/1453	8387204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8387204C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4140C>T	18.37:g.8387204C>T						PTPRM_ENST00000444013.1_Silent_p.G1167G|PTPRM_ENST00000400053.4_Silent_p.G1318G|PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G	p.G1380G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			29	5177	+		Colorectal(10;0.234)	1380			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4140C>T	CCDS11840.1																																																																																				0.552	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			21	16	0	0	0	1	0	21	16				
ZNF629	23361	broad.mit.edu	37	16	30794560	30794560	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:30794560C>T	ENST00000262525.4	-	3	1296	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCCGCTGGTGCTTGATGAGGG	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1087-1089)aaG>aaA		zinc finger protein 629							35.0	36.0	36.0					16																	30794560		2197	4300	6497	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794560C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1089G>A	16.37:g.30794560C>T							p.K363K	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1296	-			363					Q15938	Silent	SNP	ENST00000262525.4	37	c.1089G>A	CCDS45463.1																																																																																				0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		9	17	0	0	0	1	0	9	17				
LRFN3	79414	broad.mit.edu	37	19	36430574	36430574	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36430574A>G	ENST00000588831.1	+	3	1301	c.247A>G	c.(247-249)Aca>Gca	p.T83A	LRFN3_ENST00000246529.3_Missense_Mutation_p.T83A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	83					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCCAACATGACAGGCCTGCT	0.711																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(247-249)Aca>Gca		leucine rich repeat and fibronectin type III domain containing 3							16.0	18.0	17.0					19																	36430574		2179	4252	6431	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430574A>G	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.247A>G	19.37:g.36430574A>G	ENSP00000466989:p.Thr83Ala					LRFN3_ENST00000246529.3_Missense_Mutation_p.T83A	p.T83A			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1301	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		83					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.247A>G	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766249	0.69878	.	.	ENSG00000126243	ENST00000246529	T	0.57436	0.4	4.44	4.44	0.53790	.	0.000000	0.37715	N	0.001969	T	0.65801	0.2726	M	0.75264	2.295	0.39019	D	0.959712	D	0.56968	0.978	P	0.60949	0.881	T	0.66610	-0.5880	10	0.25106	T	0.35	.	11.9686	0.53051	1.0:0.0:0.0:0.0	.	83	Q9BTN0	LRFN3_HUMAN	A	83	ENSP00000246529:T83A	ENSP00000246529:T83A	T	+	1	0	LRFN3	41122414	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	6.198000	0.72106	1.787000	0.52448	0.455000	0.32223	ACA		0.711	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	18	0	0	0	1	0	3	18				
WRN	7486	broad.mit.edu	37	8	30958414	30958414	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:30958414G>A	ENST00000298139.5	+	18	2280	c.2031G>A	c.(2029-2031)ggG>ggA	p.G677G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAGTGGGGGCATGATTTTA	0.408			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2029-2031)ggG>ggA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99.0	91.0	94.0					8																	30958414		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30958414G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2031G>A	8.37:g.30958414G>A							p.G677G	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	18	2280	+		Breast(100;0.195)	677			Helicase ATP-binding.		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.2031G>A	CCDS6082.1																																																																																				0.408	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			11	29	0	0	0	1	0	11	29				
ATPAF2	91647	broad.mit.edu	37	17	17927995	17927995	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:17927995G>A	ENST00000474627.3	-	5	600	c.446C>T	c.(445-447)aCa>aTa	p.T149I	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Silent_p.D100D	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	149					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TTCCACTAATGTCTCGGGCTC	0.413																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(445-447)aCa>aTa		ATP synthase mitochondrial F1 complex assembly factor 2							153.0	130.0	138.0					17																	17927995		2203	4300	6503	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17927995G>A	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.446C>T	17.37:g.17927995G>A	ENSP00000417190:p.Thr149Ile					ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Silent_p.D100D	p.T149I	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			5	600	-	all_neural(463;0.228)		149					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.446C>T	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781561	0.49891	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.77358	-1.09;-1.09	4.81	4.81	0.61882	ATPase assembly, ATP12, domain (1);	0.155454	0.53938	D	0.000042	T	0.71854	0.3389	L	0.45352	1.415	0.29626	N	0.845857	P	0.45634	0.863	B	0.42625	0.393	T	0.71600	-0.4544	10	0.40728	T	0.16	-18.1298	13.5665	0.61822	0.0:0.1566:0.8433:0.0	.	149	Q8N5M1	ATPF2_HUMAN	I	149	ENSP00000417190:T149I;ENSP00000397198:T149I	ENSP00000434980:T149I	T	-	2	0	ATPAF2	17868720	0.998000	0.40836	0.997000	0.53966	0.984000	0.73092	3.102000	0.50291	2.360000	0.80028	0.561000	0.74099	ACA		0.413	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		43	50	0	0	0	1	0	43	50				
TPM2	7169	broad.mit.edu	37	9	35689221	35689221	+	Missense_Mutation	SNP	C	C	A	rs201888258		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:35689221C>A	ENST00000360958.2	-	2	266	c.162G>T	c.(160-162)gaG>gaT	p.E54D	TPM2_ENST00000329305.2_Missense_Mutation_p.E54D|TPM2_ENST00000378292.3_Missense_Mutation_p.E54D|TPM2_ENST00000378300.5_Missense_Mutation_p.E54D	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	54					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCTCATCCTCTGTCCCCT	0.602																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gaG>gaT		tropomyosin 2 (beta)							129.0	117.0	121.0					9																	35689221		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35689221C>A		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.162G>T	9.37:g.35689221C>A	ENSP00000354219:p.Glu54Asp					TPM2_ENST00000360958.2_Missense_Mutation_p.E54D|TPM2_ENST00000329305.2_Missense_Mutation_p.E54D|TPM2_ENST00000378300.5_Missense_Mutation_p.E54D	p.E54D	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	1364	-	all_epithelial(49;0.121)		54					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.162G>T	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883467	0.72410	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	4.94	1.0	0.19881	.	.	.	.	.	D	0.85583	0.5730	M	0.80847	2.515	0.39811	D	0.972707	B;B;B;P;B	0.44281	0.012;0.035;0.008;0.831;0.147	B;B;B;P;B	0.54706	0.39;0.173;0.096;0.759;0.288	D	0.84124	0.0408	9	0.56958	D	0.05	-6.9612	9.7768	0.40623	0.0:0.6352:0.0:0.3648	.	54;54;54;54;54	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	D	54	ENSP00000367550:E54D;ENSP00000367542:E54D;ENSP00000367541:E54D;ENSP00000354219:E54D	ENSP00000367541:E54D	E	-	3	2	TPM2	35679221	1.000000	0.71417	0.946000	0.38457	0.998000	0.95712	0.819000	0.27308	0.018000	0.15052	0.561000	0.74099	GAG		0.602	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		18	33	1	0	1.45105e-14	1	1.58388e-14	18	33				
ATP13A5	344905	broad.mit.edu	37	3	193052824	193052824	+	Silent	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:193052824A>G	ENST00000342358.4	-	10	1125	c.1008T>C	c.(1006-1008)tgT>tgC	p.C336C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	336						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAACTGTGACATTTCCAAG	0.448																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1006-1008)tgT>tgC		ATPase type 13A5							184.0	174.0	177.0					3																	193052824		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193052824A>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1008T>C	3.37:g.193052824A>G							p.C336C	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	10	1125	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		336					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.1008T>C	CCDS33914.1																																																																																				0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		37	69	0	0	0	1	0	37	69				
ACTN4	81	broad.mit.edu	37	19	39191247	39191247	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:39191247C>T	ENST00000252699.2	+	2	246	c.170C>T	c.(169-171)aCg>aTg	p.T57M	ACTN4_ENST00000424234.2_Missense_Mutation_p.T57M|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	57	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGACCTTCACGGCATGGTGC	0.607																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(169-171)aCg>aTg		actinin, alpha 4							115.0	93.0	101.0					19																	39191247		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39191247C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.170C>T	19.37:g.39191247C>T	ENSP00000252699:p.Thr57Met					ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Missense_Mutation_p.T57M	p.T57M	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	246	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		57			Actin-binding.|CH 1.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.170C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954600	0.73902	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234	D;D	0.95001	-3.58;-3.58	4.35	4.35	0.52113	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	H	0.95745	3.715	0.43919	D	0.996564	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.99184	1.0868	10	0.87932	D	0	.	16.1499	0.81605	0.0:1.0:0.0:0.0	.	57;57	E7EV83;O43707	.;ACTN4_HUMAN	M	57	ENSP00000252699:T57M;ENSP00000411187:T57M	ENSP00000252699:T57M	T	+	2	0	ACTN4	43883087	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.566000	0.82347	2.426000	0.82243	0.561000	0.74099	ACG		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			15	26	0	0	0	1	0	15	26				
HELQ	113510	broad.mit.edu	37	4	84342850	84342850	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:84342850A>G	ENST00000295488.3	-	15	2977	c.2815T>C	c.(2815-2817)Ttt>Ctt	p.F939L	HELQ_ENST00000510985.1_Missense_Mutation_p.F872L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	939					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F939V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAAGAACAAAAGACAGATAT	0.338								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			1	Substitution - Missense(1)	p.F939V(1)	lung(1)	breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2815-2817)Ttt>Ctt	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							85.0	84.0	84.0					4																	84342850		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84342850A>G	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2815T>C	4.37:g.84342850A>G	ENSP00000295488:p.Phe939Leu					HELQ_ENST00000510985.1_Missense_Mutation_p.F872L	p.F939L	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			15	2977	-			939					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2815T>C	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377233	0.11466	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.75050	-0.9;-0.9	5.04	5.04	0.67666	.	0.056516	0.64402	D	0.000001	T	0.45736	0.1357	N	0.02142	-0.665	0.49687	D	0.999817	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.001	T	0.51748	-0.8666	10	0.02654	T	1	-50.9182	14.7666	0.69642	1.0:0.0:0.0:0.0	.	872;939	E3W980;Q8TDG4	.;HELQ_HUMAN	L	939;872	ENSP00000295488:F939L;ENSP00000424539:F872L	ENSP00000295488:F939L	F	-	1	0	HELQ	84561874	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.937000	0.48979	1.895000	0.54865	0.482000	0.46254	TTT		0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		14	27	0	0	0	1	0	14	27				
RNF43	54894	broad.mit.edu	37	17	56435456	56435456	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:56435456G>A	ENST00000584437.1	-	8	3636	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.R561W|RNF43_ENST00000500597.2_Missense_Mutation_p.R520W|RNF43_ENST00000583753.1_Missense_Mutation_p.R520W|RNF43_ENST00000577716.1_Missense_Mutation_p.R561W|RNF43_ENST00000577625.1_Missense_Mutation_p.R434W|RNF43_ENST00000581868.1_Missense_Mutation_p.R434W			Q68DV7	RNF43_HUMAN	ring finger protein 43	561					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTGGAACCGCTTTTTGTAG	0.632																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1681-1683)Cgg>Tgg		ring finger protein 43							74.0	83.0	80.0					17																	56435456		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435456G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1681C>T	17.37:g.56435456G>A	ENSP00000463069:p.Arg561Trp					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.R561W|RNF43_ENST00000500597.2_Missense_Mutation_p.R520W|RNF43_ENST00000577625.1_Missense_Mutation_p.R434W|RNF43_ENST00000583753.1_Missense_Mutation_p.R520W|RNF43_ENST00000577716.1_Missense_Mutation_p.R561W|RNF43_ENST00000581868.1_Missense_Mutation_p.R434W	p.R561W			Q68DV7	RNF43_HUMAN			8	3636	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		561					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1681C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627355	0.66901	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21361	2.01;2.01	5.3	4.31	0.51392	.	0.693041	0.13860	N	0.357746	T	0.28333	0.0700	L	0.29908	0.895	0.32063	N	0.595503	D;D;D	0.71674	0.997;0.998;0.99	P;P;P	0.56916	0.653;0.809;0.451	T	0.27905	-1.0060	10	0.87932	D	0	-17.0328	11.1406	0.48400	0.0:0.0:0.8154:0.1846	.	520;561;561	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	W	561;520	ENSP00000385328:R561W;ENSP00000441969:R520W	ENSP00000385328:R561W	R	-	1	2	RNF43	53790455	0.601000	0.26907	0.997000	0.53966	0.820000	0.46376	1.394000	0.34509	1.194000	0.43101	0.205000	0.17691	CGG		0.632	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		19	61	0	0	0	1	0	19	61				
CCDC170	80129	broad.mit.edu	37	6	151869452	151869452	+	Missense_Mutation	SNP	G	G	A	rs200538059		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:151869452G>A	ENST00000239374.7	+	5	701	c.602G>A	c.(601-603)cGc>cAc	p.R201H	CCDC170_ENST00000367290.5_Missense_Mutation_p.R201H	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	201								p.R201H(1)									AGAGACCTGCGCAAAGAAAAT	0.353																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.R201H(1)	lung(1)								c.(601-603)cGc>cAc		coiled-coil domain containing 170		G	HIS/ARG	0,3670		0,0,1835	59.0	54.0	56.0		602	3.3	1.0	6		56	1,8157		0,1,4078	yes	missense	C6orf97	NM_025059.3	29	0,1,5913	AA,AG,GG		0.0123,0.0,0.0085	benign	201/716	151869452	1,11827	1835	4079	5914	SO:0001583	missense	80129							g.chr6:151869452G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.602G>A	6.37:g.151869452G>A	ENSP00000239374:p.Arg201His					CCDC170_ENST00000239374.7_Missense_Mutation_p.R201H	p.R201H			Q8IYT3	CF097_HUMAN			5	691	+			201					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.602G>A	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691904	0.15039	0.0	1.23E-4	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10099	2.91;2.91	5.48	3.32	0.38043	.	0.552403	0.19336	N	0.116789	T	0.01156	0.0038	N	0.02011	-0.69	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.15499	T	0.54	1.1149	10.969	0.47428	0.2274:0.0:0.7726:0.0	.	201	Q8IYT3	CF097_HUMAN	H	201	ENSP00000239374:R201H;ENSP00000356259:R201H	ENSP00000239374:R201H	R	+	2	0	C6orf97	151911145	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	1.873000	0.39558	1.271000	0.44313	0.585000	0.79938	CGC		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	17	0	0	0	1	0	7	17				
ABCC12	94160	broad.mit.edu	37	16	48149394	48149394	+	Missense_Mutation	SNP	C	C	T	rs200400469		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:48149394C>T	ENST00000311303.3	-	13	2266	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	ABCC12_ENST00000416054.1_Silent_p.T616T|ABCC12_ENST00000448542.1_Missense_Mutation_p.V641I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	641	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCTCAAAGACGTGCTTCCCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18728	0.001		0.0	False		,,,				2504	0.0					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1921-1923)Gtc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							166.0	149.0	155.0					16																	48149394		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149394C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1921G>A	16.37:g.48149394C>T	ENSP00000311030:p.Val641Ile					ABCC12_ENST00000448542.1_Missense_Mutation_p.V641I|ABCC12_ENST00000416054.1_Silent_p.T616T	p.V641I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			13	2266	-		all_cancers(37;0.0474)|all_lung(18;0.047)	641			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1921G>A	CCDS10730.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.017	-1.503989	0.00992	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.84800	-1.9;-1.9	5.24	-1.98	0.07480	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.229039	0.41294	N	0.000903	T	0.58694	0.2140	N	0.03194	-0.395	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54357	-0.8306	10	0.02654	T	1	.	10.013	0.41997	0.0:0.2947:0.0:0.7053	.	641	Q96J65	MRP9_HUMAN	I	641;641;583	ENSP00000311030:V641I;ENSP00000401855:V641I	ENSP00000311030:V641I	V	-	1	0	ABCC12	46706895	0.926000	0.31397	0.042000	0.18584	0.127000	0.20565	1.596000	0.36718	-0.142000	0.11354	-1.232000	0.01568	GTC		0.617	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		41	39	0	0	0	1	0	41	39				
ADH6	130	broad.mit.edu	37	4	100128604	100128604	+	Splice_Site	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:100128604T>C	ENST00000237653.7	-	7	1347	c.963A>G	c.(961-963)ggA>ggG	p.G321G	ADH6_ENST00000394897.1_Intron|ADH6_ENST00000394899.2_Splice_Site_p.G321G|ADH6_ENST00000407820.2_Splice_Site_p.G112G|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'Flank|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	321					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CATCCATACCTCCAAAAACAG	0.453																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.e7+1		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						121.0	121.0	121.0					4																	100128604		2203	4300	6503	SO:0001630	splice_region_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100128604T>C	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.964+1A>G	4.37:g.100128604T>C						RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Splice_Site_p.G112_splice|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000237653.7_Splice_Site_p.G321_splice	p.G321_splice	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	7	1056	-			321					B3KS45|Q58F53	Splice_Site	SNP	ENST00000237653.7	37	c.964_splice	CCDS3647.1																																																																																				0.453	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	Silent	27	33	0	0	0	1	0	27	33				
ENOX2	10495	broad.mit.edu	37	X	129813662	129813662	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:129813662C>T	ENST00000370927.1	-	4	422	c.401G>A	c.(400-402)gGt>gAt	p.G134D	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.G105D|ENOX2_ENST00000394363.1_Missense_Mutation_p.G105D|ENOX2_ENST00000338144.3_Missense_Mutation_p.G134D			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	134	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCAGGCAGACCACCCACAAA	0.433																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(400-402)gGt>gAt		ecto-NOX disulfide-thiol exchanger 2							139.0	115.0	123.0					X																	129813662		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129813662C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.401G>A	X.37:g.129813662C>T	ENSP00000359965:p.Gly134Asp					ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Missense_Mutation_p.G134D|ENOX2_ENST00000394363.1_Missense_Mutation_p.G105D|ENOX2_ENST00000370935.1_Missense_Mutation_p.G105D	p.G134D	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			7	818	-			134			RRM.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.401G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870682	0.91587	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058752	0.64402	D	0.000002	D	0.88760	0.6524	M	0.87038	2.855	0.58432	D	0.999999	D	0.69078	0.997	D	0.69654	0.965	D	0.90029	0.4133	9	.	.	.	-10.0507	15.1952	0.73081	0.0:1.0:0.0:0.0	.	134	Q16206	ENOX2_HUMAN	D	105;105;134;105;162;134;105	ENSP00000359973:G105D;ENSP00000337146:G134D;ENSP00000377890:G105D;ENSP00000359965:G134D;ENSP00000400304:G105D	.	G	-	2	0	ENOX2	129641343	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.245000	0.78237	2.472000	0.83506	0.600000	0.82982	GGT		0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		36	8	0	0	0	1	0	36	8				
ASPRV1	151516	broad.mit.edu	37	2	70188206	70188206	+	Silent	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:70188206C>T	ENST00000320256.4	-	1	1191	c.615G>A	c.(613-615)gtG>gtA	p.V205V	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ACCTCACGGGCACTTTGCCAA	0.602																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(613-615)gtG>gtA		aspartic peptidase, retroviral-like 1							84.0	86.0	85.0					2																	70188206		2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188206C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.615G>A	2.37:g.70188206C>T							p.V205V	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1191	-			205						Silent	SNP	ENST00000320256.4	37	c.615G>A	CCDS1897.1																																																																																				0.602	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		19	37	0	0	0	1	0	19	37				
IFI35	3430	broad.mit.edu	37	17	41168121	41168121	+	IGR	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:41168121A>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000355653.3_Missense_Mutation_p.V380A|VAT1_ENST00000587173.1_Missense_Mutation_p.V312A|VAT1_ENST00000420567.3_Missense_Mutation_p.V246A	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACCTTGCCCACATTCTTCTT	0.552																																						ENST00000355653.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1138-1140)gTg>gCg		vesicle amine transport 1							372.0	344.0	354.0					17																	41168121		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168121A>G	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168121A>G						VAT1_ENST00000420567.3_Missense_Mutation_p.V246A|VAT1_ENST00000587173.1_Missense_Mutation_p.V312A	p.V380A	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	6	1234	-		Breast(137;0.000717)	380					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1139T>C		.	.	.	.	.	.	.	.	.	.	A	18.15	3.560644	0.65538	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.12465	3.43;2.68	5.24	5.24	0.73138	.	0.125553	0.53938	D	0.000046	T	0.17152	0.0412	L	0.48260	1.515	0.43355	D	0.99542	P;B	0.48911	0.917;0.266	B;B	0.43575	0.424;0.24	T	0.01027	-1.1476	10	0.87932	D	0	-8.0376	15.1481	0.72674	1.0:0.0:0.0:0.0	.	312;380	B4DPX4;Q99536	.;VAT1_HUMAN	A	380;287;246	ENSP00000347872:V380A;ENSP00000408553:V246A	ENSP00000347872:V380A	V	-	2	0	VAT1	38421647	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.624000	0.74243	1.998000	0.58463	0.459000	0.35465	GTG		0.552	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		79	147	0	0	0	1	0	79	147				
WWOX	51741	broad.mit.edu	37	16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1033-1035)gCg>gTg		WW domain containing oxidoreductase							167.0	165.0	166.0					16																	78466627		2033	4194	6227	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466627C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1034C>T	16.37:g.78466627C>T	ENSP00000457230:p.Ala345Val					WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V	p.A345V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1400	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	345			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1034C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527666	0.27299	.	.	ENSG00000186153	ENST00000408984	T	0.78707	-1.2	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	N	0.16233	0.39	0.53688	D	0.99997	B	0.23442	0.085	B	0.12156	0.007	T	0.56159	-0.8025	10	0.02654	T	1	.	13.5191	0.61557	0.0:0.9289:0.0:0.0711	.	345	Q9NZC7	WWOX_HUMAN	V	345	ENSP00000386161:A345V	ENSP00000386161:A345V	A	+	2	0	WWOX	77024128	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.847000	0.55895	2.814000	0.96858	0.655000	0.94253	GCG		0.532	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			53	97	0	0	0	1	0	53	97				
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	C	T	rs139448086		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			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)					TTGAGCAGATCGTCATATTCA	0.478																																						ENST00000344204.4																			0				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						c.(6580-6582)atC>atT		trio Rho guanine nucleotide exchange factor		C		0,4406		0,0,2203	124.0	119.0	121.0		6582	-5.3	0.9	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIO	NM_007118.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2194/3098	14482807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:14482807C>T	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.6582C>T	5.37:g.14482807C>T						TRIO_ENST00000537187.1_Silent_p.I2194I	p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			46	6606	+	Lung NSC(4;0.000742)		2194			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6582C>T	CCDS3883.1																																																																																				0.478	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		31	49	0	0	0	1	0	31	49				
AMZ1	155185	broad.mit.edu	37	7	2740187	2740187	+	Silent	SNP	C	C	T	rs375738662		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:2740187C>T	ENST00000312371.4	+	2	470	c.102C>T	c.(100-102)tcC>tcT	p.S34S	AMZ1_ENST00000407112.1_Silent_p.S34S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	34							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGTATGTGTCCGCCTTCTCCC	0.657																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(100-102)tcC>tcT		archaelysin family metallopeptidase 1		C		1,4405	2.1+/-5.4	0,1,2202	112.0	120.0	117.0		102	-6.6	0.0	7		117	0,8600		0,0,4300	no	coding-synonymous	AMZ1	NM_133463.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		34/499	2740187	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740187C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.102C>T	7.37:g.2740187C>T						AMZ1_ENST00000407112.1_Silent_p.S34S	p.S34S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	470	+		Ovarian(82;0.0779)	34					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.102C>T	CCDS34589.1																																																																																				0.657	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		37	60	0	0	0	1	0	37	60				
MECP2	4204	broad.mit.edu	37	X	153297982	153297982	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:153297982A>G	ENST00000303391.6	-	3	302	c.53T>C	c.(52-54)cTc>cCc	p.L18P	MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L30P|MECP2_ENST00000407218.1_Missense_Mutation_p.L18P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	18					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCCCTGGAGGTCCTGGTC	0.478																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(52-54)cTc>cCc		methyl CpG binding protein 2 (Rett syndrome)							92.0	93.0	93.0					X																	153297982		2198	4290	6488	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297982A>G	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.53T>C	X.37:g.153297982A>G	ENSP00000301948:p.Leu18Pro					MECP2_ENST00000407218.1_Missense_Mutation_p.L18P|MECP2_ENST00000480620.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.L30P	p.L18P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			3	302	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		18					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.53T>C	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451451	0.63290	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.98849	-3.2;-2.85;-5.18;-2.56	5.65	4.48	0.54585	.	0.146450	0.47852	D	0.000205	D	0.97888	0.9306	L	0.27053	0.805	0.58432	D	0.999999	P;D	0.65815	0.518;0.995	B;D	0.72982	0.146;0.979	D	0.97590	1.0116	10	0.72032	D	0.01	-20.7792	9.9109	0.41406	0.9176:0.0:0.0824:0.0	.	30;18	P51608-2;P51608	.;MECP2_HUMAN	P	18;18;30;18;18;18	ENSP00000301948:L18P;ENSP00000395535:L30P;ENSP00000384865:L18P;ENSP00000416267:L18P	ENSP00000301948:L18P	L	-	2	0	MECP2	152951176	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	3.140000	0.50585	0.773000	0.33404	0.430000	0.28490	CTC		0.478	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		36	9	0	0	0	1	0	36	9				
TMPRSS6	164656	broad.mit.edu	37	22	37494485	37494485	+	Missense_Mutation	SNP	G	G	A	rs113803353	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:37494485G>A	ENST00000346753.3	-	3	450	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R103C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R112C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	112	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GTTTCACTGCGGAAGGCACTA	0.567													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.0					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(307-309)Cgc>Tgc		transmembrane protease, serine 6		G	CYS/ARG	23,4383	32.6+/-62.9	0,23,2180	304.0	303.0	303.0		334	5.0	1.0	22	dbSNP_132	303	0,8600		0,0,4300	yes	missense	TMPRSS6	NM_153609.2	180	0,23,6480	AA,AG,GG		0.0,0.522,0.1768	probably-damaging	112/812	37494485	23,12983	2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37494485G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.334C>T	22.37:g.37494485G>A	ENSP00000334962:p.Arg112Cys					TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R112C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R112C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R103C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R103C	p.R103C			Q8IU80	TMPS6_HUMAN			3	447	-			112					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.307C>T	CCDS13941.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	15.99	2.994738	0.54041	0.00522	0.0	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.97	4.97	0.65823	SEA (1);	0.145105	0.46758	D	0.000262	T	0.36608	0.0973	L	0.27053	0.805	0.46167	D	0.998906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67725	0.953;0.917;0.926	T	0.24083	-1.0170	10	0.35671	T	0.21	.	8.0365	0.30495	0.1472:0.0:0.8528:0.0	.	112;103;112	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	C	103;112;103;103;112;103	ENSP00000371211:R103C;ENSP00000334962:R112C;ENSP00000385453:R103C;ENSP00000384964:R103C;ENSP00000397691:R112C;ENSP00000400317:R103C	ENSP00000334962:R112C	R	-	1	0	TMPRSS6	35824431	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.226000	0.51254	2.293000	0.77203	0.561000	0.74099	CGC		0.567	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		98	137	0	0	0	1	0	98	137				
BTRC	8945	broad.mit.edu	37	10	103221813	103221813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:103221813C>T	ENST00000370187.3	+	3	350	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	BTRC_ENST00000393441.4_Intron|BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q42*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTCACTTAGACAGGTATGAAA	0.373																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(232-234)Cag>Tag		beta-transducin repeat containing E3 ubiquitin protein ligase							84.0	89.0	87.0					10																	103221813		2203	4300	6503	SO:0001587	stop_gained	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103221813C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.232C>T	10.37:g.103221813C>T	ENSP00000359206:p.Gln78*					BTRC_ENST00000408038.2_Nonsense_Mutation_p.Q42*|BTRC_ENST00000393441.4_Intron	p.Q78*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	3	350	+		Colorectal(252;0.234)	78					B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	c.232C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226558	0.95173	.	.	ENSG00000166167	ENST00000370187;ENST00000408038;ENST00000370183	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.9955	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	78;42;60	.	ENSP00000359202:Q60X	Q	+	1	0	BTRC	103211803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	CAG		0.373	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		17	25	0	0	0	1	0	17	25				
FAM154A	158297	broad.mit.edu	37	9	18928482	18928482	+	Silent	SNP	G	G	A	rs377104678		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:18928482G>A	ENST00000380534.4	-	4	1272	c.993C>T	c.(991-993)tgC>tgT	p.C331C	FAM154A_ENST00000542071.1_Silent_p.C139C|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	331								p.C331C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CAAAGCGACCGCACTTCTTAA	0.562																																						ENST00000380534.4																			1	Substitution - coding silent(1)	p.C331C(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(991-993)tgC>tgT		family with sequence similarity 154, member A							83.0	74.0	77.0					9																	18928482		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18928482G>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.993C>T	9.37:g.18928482G>A						FAM154A_ENST00000542071.1_Silent_p.C139C|FAM154A_ENST00000380530.1_3'UTR	p.C331C	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1272	-			331					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.993C>T	CCDS6487.1																																																																																				0.562	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		15	15	0	0	0	1	0	15	15				
CHD8	57680	broad.mit.edu	37	14	21860888	21860888	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:21860888C>A	ENST00000557364.1	-	34	6812	c.6549G>T	c.(6547-6549)caG>caT	p.Q2183H	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.Q2183H|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.Q1904H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2183					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACCATTTCCTGGCTCCTAC	0.522																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6547-6549)caG>caT		chromodomain helicase DNA binding protein 8							136.0	137.0	137.0					14																	21860888		1983	4165	6148	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860888C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6549G>T	14.37:g.21860888C>A	ENSP00000451601:p.Gln2183His					CHD8_ENST00000430710.3_Missense_Mutation_p.Q1904H|CHD8_ENST00000557364.1_Missense_Mutation_p.Q2183H	p.Q2183H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6613	-	all_cancers(95;0.00121)		2183					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6549G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	7.304	0.613593	0.14066	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.21	3.25	0.37280	.	0.243627	0.36591	N	0.002502	T	0.41511	0.1162	N	0.03608	-0.345	0.28585	N	0.909933	B	0.12013	0.005	B	0.10450	0.005	T	0.23226	-1.0194	10	0.23302	T	0.38	-14.5299	6.4351	0.21819	0.0:0.6617:0.1561:0.1822	.	1904	Q9HCK8-2	.	H	1904;2183;1903;2183;20	ENSP00000406288:Q1904H;ENSP00000382863:Q2183H;ENSP00000451601:Q2183H;ENSP00000451071:Q20H	ENSP00000262707:Q1903H	Q	-	3	2	CHD8	20930728	.	.	1.000000	0.80357	0.882000	0.50991	.	.	1.423000	0.47198	0.561000	0.74099	CAG		0.522	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	68	1	0	7.03913e-09	1	7.44699e-09	12	68				
ME2	4200	broad.mit.edu	37	18	48439250	48439250	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:48439250A>G	ENST00000321341.5	+	4	594	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	ME2_ENST00000382927.3_Missense_Mutation_p.M108V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	108					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TGAGAGTTTAATGCCAATTGT	0.338																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(322-324)Atg>Gtg		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						137.0	137.0	137.0					18																	48439250		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439250A>G	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.322A>G	18.37:g.48439250A>G	ENSP00000321070:p.Met108Val					ME2_ENST00000382927.3_Missense_Mutation_p.M108V	p.M108V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	594	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	108					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.322A>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476389	0.63737	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.29917	1.55;1.55	5.58	3.13	0.36017	Malic enzyme, N-terminal (2);	0.072409	0.85682	D	0.000000	T	0.46249	0.1383	M	0.77103	2.36	0.58432	D	0.999997	B;P	0.48911	0.408;0.917	P;P	0.55303	0.773;0.766	T	0.41770	-0.9490	10	0.87932	D	0	-17.4149	8.4116	0.32646	0.7319:0.1373:0.0:0.1308	.	108;108	Q9BWL6;P23368	.;MAOM_HUMAN	V	108	ENSP00000321070:M108V;ENSP00000372384:M108V	ENSP00000321070:M108V	M	+	1	0	ME2	46693248	1.000000	0.71417	0.807000	0.32361	0.770000	0.43624	5.211000	0.65219	0.447000	0.26695	0.533000	0.62120	ATG		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		37	64	0	0	0	1	0	37	64				
ANO1	55107	broad.mit.edu	37	11	70007391	70007391	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:70007391C>T	ENST00000355303.5	+	17	2008	c.1703C>T	c.(1702-1704)gCa>gTa	p.A568V	ANO1_ENST00000531349.1_Missense_Mutation_p.A277V|ANO1_ENST00000530676.1_Missense_Mutation_p.A422V|ANO1_ENST00000398543.2_Missense_Mutation_p.A422V|ANO1_ENST00000538023.1_Missense_Mutation_p.A568V|ANO1_ENST00000316296.5_Missense_Mutation_p.A510V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	568					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACAGCCACCGCAGTCATCATC	0.587																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1702-1704)gCa>gTa		anoctamin 1, calcium activated chloride channel							104.0	108.0	107.0					11																	70007391		2181	4270	6451	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007391C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1703C>T	11.37:g.70007391C>T	ENSP00000347454:p.Ala568Val					ANO1_ENST00000398543.2_Missense_Mutation_p.A422V|ANO1_ENST00000530676.1_Missense_Mutation_p.A422V|ANO1_ENST00000531349.1_Missense_Mutation_p.A277V|ANO1_ENST00000316296.5_Missense_Mutation_p.A510V|ANO1_ENST00000538023.1_Missense_Mutation_p.A568V	p.A568V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			17	2008	+			568					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1703C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895119	0.72639	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.29	5.29	0.74685	.	0.058632	0.64402	D	0.000002	T	0.80025	0.4548	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.74674	0.955;0.984;0.981	T	0.80656	-0.1285	9	.	.	.	.	18.9454	0.92620	0.0:1.0:0.0:0.0	.	277;510;568	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	V	568;568;422;326;510;422;277;119	ENSP00000347454:A568V;ENSP00000444689:A568V;ENSP00000381551:A422V;ENSP00000319477:A510V;ENSP00000435797:A422V;ENSP00000432843:A277V;ENSP00000435868:A119V	.	A	+	2	0	ANO1	69685039	1.000000	0.71417	0.156000	0.22583	0.044000	0.14063	7.575000	0.82447	2.460000	0.83146	0.655000	0.94253	GCA		0.587	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		23	49	0	0	0	1	0	23	49				
KLHL23	151230	broad.mit.edu	37	2	170592130	170592130	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:170592130G>A	ENST00000392647.2	+	2	850	c.606G>A	c.(604-606)gaG>gaA	p.E202E	KLHL23_ENST00000272797.4_Silent_p.E202E|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	202	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTATCATAGAGCCAGTTATTA	0.353																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(604-606)gaG>gaA		kelch-like family member 23							47.0	51.0	49.0					2																	170592130		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170592130G>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.606G>A	2.37:g.170592130G>A						KLHL23_ENST00000272797.4_Silent_p.E202E|KLHL23_ENST00000602521.1_Intron	p.E202E	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	850	+			202			BACK.		Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.606G>A	CCDS2236.1																																																																																				0.353	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		26	32	0	0	0	1	0	26	32				
EXOC3	11336	broad.mit.edu	37	5	464517	464517	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:464517C>T	ENST00000512944.1	+	10	1955	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L	EXOC3_ENST00000315013.5_Missense_Mutation_p.P589L|CTD-2228K2.5_ENST00000510714.1_5'Flank	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	600					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ATTAAAAAGCCGTATAAGAAG	0.468																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(1765-1767)cCg>cTg		exocyst complex component 3							133.0	135.0	135.0					5																	464517		1977	4144	6121	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:464517C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1766C>T	5.37:g.464517C>T	ENSP00000425587:p.Pro589Leu					EXOC3_ENST00000315013.5_Missense_Mutation_p.P589L	p.P589L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1955	+		Ovarian(839;0.0563)	600					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1766C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.091022	0.20471	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.07327	3.2;3.2	4.92	4.05	0.47172	.	0.054407	0.85682	D	0.000000	T	0.11153	0.0272	M	0.77313	2.365	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05354	-1.0890	10	0.30854	T	0.27	-17.952	6.7732	0.23604	0.1735:0.7354:0.0:0.0911	.	600	O60645	EXOC3_HUMAN	L	589;589;484	ENSP00000425587:P589L;ENSP00000323377:P589L	ENSP00000323377:P589L	P	+	2	0	EXOC3	517517	0.999000	0.42202	0.933000	0.37362	0.249000	0.25844	4.111000	0.57838	1.213000	0.43380	-0.137000	0.14449	CCG		0.468	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		12	38	0	0	0	1	0	12	38				
CCDC174	51244	broad.mit.edu	37	3	14695972	14695972	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:14695972G>A	ENST00000383794.3	+	2	155	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CCDC174_ENST00000303688.7_Missense_Mutation_p.E28K	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	28						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCAAGAAGAATTCAAACA	0.323																																						ENST00000383794.3																			0											c.(82-84)Gaa>Aaa		coiled-coil domain containing 174							31.0	31.0	31.0					3																	14695972		1778	4050	5828	SO:0001583	missense	51244							g.chr3:14695972G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.82G>A	3.37:g.14695972G>A	ENSP00000373304:p.Glu28Lys					CCDC174_ENST00000303688.7_Missense_Mutation_p.E28K	p.E28K	NM_016474.4	NP_057558.3					2	155	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.82G>A	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447736	0.63178	.	.	ENSG00000154781	ENST00000383794;ENST00000303688	T;T	0.55413	0.63;0.52	5.38	4.45	0.53987	.	0.126184	0.53938	D	0.000045	T	0.61438	0.2347	M	0.84948	2.725	0.46701	D	0.999168	P	0.50528	0.936	P	0.45037	0.467	T	0.71163	-0.4673	10	0.62326	D	0.03	-18.5116	14.4785	0.67564	0.0:0.1481:0.8519:0.0	.	28	Q6PII3	CC019_HUMAN	K	28	ENSP00000373304:E28K;ENSP00000302344:E28K	ENSP00000302344:E28K	E	+	1	0	C3orf19	14670976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.533000	0.60615	2.514000	0.84764	0.491000	0.48974	GAA		0.323	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		8	18	0	0	0	1	0	8	18				
DAG1	1605	broad.mit.edu	37	3	49568797	49568797	+	Missense_Mutation	SNP	G	G	A	rs78720195	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:49568797G>A	ENST00000539901.1	+	3	1411	c.853G>A	c.(853-855)Gca>Aca	p.A285T	DAG1_ENST00000308775.2_Missense_Mutation_p.A285T|DAG1_ENST00000538711.1_Missense_Mutation_p.A285T|DAG1_ENST00000545947.1_Missense_Mutation_p.A285T|DAG1_ENST00000541308.1_Missense_Mutation_p.A285T|DAG1_ENST00000515359.2_Missense_Mutation_p.A285T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	285	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGGGAGGGCGCAATGTCTGC	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(853-855)Gca>Aca		dystroglycan 1 (dystrophin-associated glycoprotein 1)		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	78.0		853,853,853,853,853,853,853,853,853,853,853,853,853	-2.7	0.0	3	dbSNP_131	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DAG1	NM_001165928.2,NM_001177634.1,NM_001177635.1,NM_001177636.1,NM_001177637.1,NM_001177638.1,NM_001177639.1,NM_001177640.1,NM_001177641.1,NM_001177642.1,NM_001177643.1,NM_001177644.1,NM_004393.4	58,58,58,58,58,58,58,58,58,58,58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896,285/896	49568797	2,13004	2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49568797G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.853G>A	3.37:g.49568797G>A	ENSP00000439334:p.Ala285Thr					DAG1_ENST00000539901.1_Missense_Mutation_p.A285T|DAG1_ENST00000515359.2_Missense_Mutation_p.A285T|DAG1_ENST00000538711.1_Missense_Mutation_p.A285T|DAG1_ENST00000308775.2_Missense_Mutation_p.A285T|DAG1_ENST00000541308.1_Missense_Mutation_p.A285T	p.A285T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1575	+			285			Required for laminin recognition.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.853G>A	CCDS2799.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.511	-0.866497	0.02590	2.27E-4	1.16E-4	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.9	-2.7	0.06004	.	0.238843	0.48286	N	0.000195	T	0.32645	0.0836	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47535	-0.9110	10	0.02654	T	1	-2.2098	12.3909	0.55358	0.7617:0.0:0.2383:0.0	.	285	Q14118	DAG1_HUMAN	T	285;285;285;285;285;285;84	ENSP00000440705:A285T;ENSP00000312435:A285T;ENSP00000442600:A285T;ENSP00000440590:A285T;ENSP00000439334:A285T;ENSP00000438421:A285T	ENSP00000312435:A285T	A	+	1	0	DAG1	49543801	0.120000	0.22244	0.000000	0.03702	0.933000	0.57130	0.832000	0.27490	-0.377000	0.07930	-0.163000	0.13421	GCA		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			15	21	0	0	0	1	0	15	21				
CBLB	868	broad.mit.edu	37	3	105438945	105438945	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:105438945G>A	ENST00000264122.4	-	10	1674	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	CBLB_ENST00000394027.3_Silent_p.D473D|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.D451D|CBLB_ENST00000403724.1_Silent_p.D451D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	451					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATCATCATCGTCGTCCAAGT	0.478			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1351-1353)gaC>gaT		Cbl proto-oncogene B, E3 ubiquitin protein ligase							121.0	102.0	108.0					3																	105438945		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438945G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1353C>T	3.37:g.105438945G>A						CBLB_ENST00000405772.1_Silent_p.D451D|CBLB_ENST00000403724.1_Silent_p.D451D|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Silent_p.D473D	p.D451D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			10	1674	-			451					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.1353C>T	CCDS2948.1																																																																																				0.478	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		20	27	0	0	0	1	0	20	27				
SCN7A	6332	broad.mit.edu	37	2	167262766	167262766	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:167262766G>T	ENST00000409855.1	-	25	4499	c.4373C>A	c.(4372-4374)cCt>cAt	p.P1458H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1458					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTGAGTCCCAGGGTTAATTTT	0.383																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4372-4374)cCt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							89.0	86.0	87.0					2																	167262766		1850	4140	5990	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262766G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4373C>A	2.37:g.167262766G>T	ENSP00000386796:p.Pro1458His						p.P1458H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4499	-			1458						Missense_Mutation	SNP	ENST00000409855.1	37	c.4373C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145902	0.77888	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96967	-4.19	4.89	4.89	0.63831	Ion transport (1);	0.000000	0.56097	D	0.000023	D	0.97974	0.9333	M	0.81112	2.525	0.45490	D	0.998455	D	0.89917	1.0	D	0.97110	1.0	D	0.98498	1.0613	10	0.87932	D	0	.	15.9131	0.79488	0.0:0.0:1.0:0.0	.	1458	Q01118	SCN7A_HUMAN	H	1458	ENSP00000386796:P1458H	ENSP00000259060:P1458H	P	-	2	0	SCN7A	166971012	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	2.435000	0.44811	2.694000	0.91930	0.585000	0.79938	CCT		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			24	42	1	0	3.28513e-13	1	3.56457e-13	24	42				
ALOX5	240	broad.mit.edu	37	10	45939258	45939258	+	Silent	SNP	C	C	T	rs149908407		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:45939258C>T	ENST00000374391.2	+	12	1709	c.1656C>T	c.(1654-1656)gcC>gcT	p.A552A	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Silent_p.A552A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	552	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CCCAGCACGCCGCGGTCAACT	0.697																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1654-1656)gcC>gcT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	C		1,4401		0,1,2200	29.0	28.0	28.0		1656	-10.5	0.1	10	dbSNP_134	28	0,8600		0,0,4300	no	coding-synonymous	ALOX5	NM_000698.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		552/675	45939258	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45939258C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1656C>T	10.37:g.45939258C>T						ALOX5_ENST00000542434.1_Silent_p.A552A	p.A552A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			12	1709	+		Lung SC(717;0.0257)	552			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.1656C>T	CCDS7212.1																																																																																				0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			3	7	0	0	0	1	0	3	7				
TOP3A	7156	broad.mit.edu	37	17	18181522	18181522	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:18181522C>T	ENST00000321105.5	-	18	2508	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	TOP3A_ENST00000542570.1_Missense_Mutation_p.R670H|TOP3A_ENST00000540524.1_Missense_Mutation_p.R295H	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	765					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCCTGCAGGCGGCCAGAGGG	0.632																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2293-2295)cGc>cAc		topoisomerase (DNA) III alpha							43.0	51.0	48.0					17																	18181522		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181522C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2294G>A	17.37:g.18181522C>T	ENSP00000321636:p.Arg765His					TOP3A_ENST00000542570.1_Missense_Mutation_p.R670H|TOP3A_ENST00000540524.1_Missense_Mutation_p.R295H	p.R765H	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2508	-			765					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2294G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	3.292	-0.144839	0.06627	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11930	3.1;2.73;3.1	5.55	2.06	0.26882	.	0.597078	0.18889	N	0.128352	T	0.02533	0.0077	N	0.00436	-1.5	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.01281	0.0;0.0	T	0.40794	-0.9544	10	0.15066	T	0.55	-5.3983	2.6725	0.05071	0.1197:0.134:0.1247:0.6216	.	670;765	B4DK80;Q13472	.;TOP3A_HUMAN	H	765;295;670	ENSP00000321636:R765H;ENSP00000446425:R295H;ENSP00000442336:R670H	ENSP00000321636:R765H	R	-	2	0	TOP3A	18122247	0.955000	0.32602	0.838000	0.33150	0.042000	0.13812	1.224000	0.32539	0.061000	0.16311	-1.328000	0.01277	CGC		0.632	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			11	55	0	0	0	1	0	11	55				
SBF2	81846	broad.mit.edu	37	11	9878212	9878212	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9878212T>C	ENST00000256190.8	-	19	2293	c.2156A>G	c.(2155-2157)gAg>gGg	p.E719G	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	719					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCGTAGTTGCTCAGCTGCCAG	0.453																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2155-2157)gAg>gGg		SET binding factor 2							257.0	241.0	247.0					11																	9878212		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878212T>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2156A>G	11.37:g.9878212T>C	ENSP00000256190:p.Glu719Gly					RP11-1H15.2_ENST00000533659.1_RNA	p.E719G	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	19	2293	-			719					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2156A>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	t	17.18	3.323299	0.60634	.	.	ENSG00000133812	ENST00000256190	T	0.52754	0.65	5.59	5.59	0.84812	.	0.226548	0.42821	D	0.000644	T	0.51787	0.1695	M	0.73598	2.24	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.52593	-0.8555	10	0.66056	D	0.02	.	16.0663	0.80878	0.0:0.0:0.0:1.0	.	719	Q86WG5	MTMRD_HUMAN	G	719	ENSP00000256190:E719G	ENSP00000256190:E719G	E	-	2	0	SBF2	9834788	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.087000	0.64480	2.251000	0.74343	0.456000	0.33151	GAG		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		64	107	0	0	0	1	0	64	107				
ZRANB3	84083	broad.mit.edu	37	2	135988257	135988257	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:135988257G>A	ENST00000264159.6	-	13	1896	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	ZRANB3_ENST00000401392.1_Missense_Mutation_p.P594S|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P594S	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	594					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGGGATGGTGTCTCTTCC	0.502																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1780-1782)Cca>Tca		zinc finger, RAN-binding domain containing 3							169.0	166.0	167.0					2																	135988257		1986	4160	6146	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988257G>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1780C>T	2.37:g.135988257G>A	ENSP00000264159:p.Pro594Ser					ZRANB3_ENST00000264159.6_Missense_Mutation_p.P594S|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P594S	p.P594S			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1992	-			594					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1780C>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	9.385	1.074086	0.20227	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90620	-2.7;-2.7;-2.69	5.51	1.65	0.23941	.	0.777115	0.12314	N	0.479927	T	0.80644	0.4662	L	0.28740	0.885	0.09310	N	1	B;B	0.14012	0.009;0.007	B;B	0.14023	0.007;0.01	T	0.63695	-0.6579	10	0.24483	T	0.36	-5.9965	1.6462	0.02762	0.2331:0.1198:0.4735:0.1736	.	594;594	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	S	59;59;594;594;594	ENSP00000383979:P594S;ENSP00000264159:P594S;ENSP00000441320:P594S	ENSP00000264159:P594S	P	-	1	0	ZRANB3	135704727	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.422000	0.21296	0.278000	0.22164	-0.251000	0.11542	CCA		0.502	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		25	40	0	0	0	1	0	25	40				
PPP4R2	151987	broad.mit.edu	37	3	73096418	73096418	+	Silent	SNP	G	G	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:73096418G>A	ENST00000356692.5	+	3	451	c.198G>A	c.(196-198)gaG>gaA	p.E66E	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Silent_p.E10E			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	66					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CAGCTCCTGAGCCAAGAGGTC	0.358																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(196-198)gaG>gaA		protein phosphatase 4, regulatory subunit 2							38.0	40.0	40.0					3																	73096418		2201	4295	6496	SO:0001819	synonymous_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73096418G>A	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.198G>A	3.37:g.73096418G>A						PPP4R2_ENST00000295862.9_Silent_p.E10E|PPP4R2_ENST00000394284.3_Intron	p.E66E			Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	3	451	+		Prostate(10;0.0187)|Lung SC(41;0.236)	66					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Silent	SNP	ENST00000356692.5	37	c.198G>A	CCDS2917.1																																																																																				0.358	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		12	9	0	0	0	1	0	12	9				
DEDD2	162989	broad.mit.edu	37	19	42713926	42713926	+	Missense_Mutation	SNP	C	C	T	rs372874604		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:42713926C>T	ENST00000595337.1	-	4	602	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	DEDD2_ENST00000598727.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000336034.4_Missense_Mutation_p.R167Q|DEDD2_ENST00000596251.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	172					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GGCCCCTCTCCGCCGCCGTCT	0.657																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(514-516)cGg>cAg		death effector domain containing 2							31.0	33.0	32.0					19																	42713926		2202	4296	6498	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713926C>T	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.515G>A	19.37:g.42713926C>T	ENSP00000470082:p.Arg172Gln					DEDD2_ENST00000336034.4_Missense_Mutation_p.R167Q|DEDD2_ENST00000598727.1_Missense_Mutation_p.R172Q|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Missense_Mutation_p.R172Q	p.R172Q	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	602	-		Prostate(69;0.0704)	172					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.515G>A	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845090	0.71603	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	0.52	0.17040	.	0.486373	0.21473	N	0.073966	T	0.27765	0.0683	N	0.08118	0	0.36780	D	0.88426	B;B	0.18310	0.027;0.016	B;B	0.14023	0.01;0.004	T	0.08534	-1.0717	9	0.42905	T	0.14	-17.8418	8.1166	0.30946	0.0:0.7426:0.0:0.2574	.	167;172	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	Q	172	.	ENSP00000336972:R172Q	R	-	2	0	DEDD2	47405766	0.985000	0.35326	0.998000	0.56505	0.932000	0.56968	0.272000	0.18644	0.216000	0.20781	0.467000	0.42956	CGG		0.657	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		20	31	0	0	0	1	0	20	31				
CDH5	1003	broad.mit.edu	37	16	66431994	66431994	+	Silent	SNP	C	C	T	rs370750196		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:66431994C>T	ENST00000341529.3	+	9	1618	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGTGTGAGAACGCTGTCCATG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18707	0.0		0.0	False		,,,				2504	0.001					ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1468-1470)aaC>aaT		cadherin 5, type 2 (vascular endothelium)		C		1,4401	2.1+/-5.4	0,1,2200	161.0	148.0	152.0		1470	-8.4	0.0	16		152	0,8600		0,0,4300	no	coding-synonymous	CDH5	NM_001795.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		490/785	66431994	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66431994C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1470C>T	16.37:g.66431994C>T						CDH5_ENST00000539168.1_5'UTR	p.N490N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1618	+		Ovarian(137;0.0955)	490			Cadherin 5.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1470C>T	CCDS10804.1																																																																																				0.562	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		29	62	0	0	0	1	0	29	62				
KLHL8	57563	broad.mit.edu	37	4	88085050	88085050	+	Silent	SNP	C	C	T	rs142229964		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:88085050C>T	ENST00000273963.5	-	9	2060	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	KLHL8_ENST00000425278.2_Silent_p.A390A|KLHL8_ENST00000498875.2_Silent_p.A497A|KLHL8_ENST00000512111.1_Silent_p.A573A|KLHL8_ENST00000545252.1_Silent_p.A222A	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	573					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTGGATCAAACGCTTCTACTG	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1717-1719)gcG>gcA		kelch-like family member 8		C		0,4406		0,0,2203	198.0	210.0	206.0		1719	-11.4	0.1	4	dbSNP_134	206	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL8	NM_020803.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		573/621	88085050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88085050C>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1719G>A	4.37:g.88085050C>T						KLHL8_ENST00000498875.2_Silent_p.A497A|KLHL8_ENST00000425278.2_Silent_p.A390A|KLHL8_ENST00000512111.1_Silent_p.A573A|KLHL8_ENST00000545252.1_Silent_p.A222A	p.A573A	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	2060	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	573					Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1719G>A	CCDS3617.1																																																																																				0.383	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			55	90	0	0	0	1	0	55	90				
CPT1C	126129	broad.mit.edu	37	19	50191419	50191419	+	5'Flank	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:50191419C>T	ENST00000392518.4	+	0	0				CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000527866.1_3'UTR|CPT1C_ENST00000405931.2_5'Flank|ADM5_ENST00000420022.3_5'Flank|PRMT1_ENST00000532489.1_Splice_Site_p.R299W|PRMT1_ENST00000454376.2_Splice_Site_p.R345W|CPT1C_ENST00000354199.5_5'Flank|CPT1C_ENST00000598293.1_5'Flank|PRMT1_ENST00000391851.4_Splice_Site_p.R327W|CPT1C_ENST00000323446.5_5'Flank	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C						carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTCCCTGCAGCGGGACCTGGA	0.692																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.e11-1		protein arginine methyltransferase 1							104.0	89.0	94.0					19																	50191419		2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein methyltransferase activity	g.chr19:50191419C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5			19.37:g.50191419C>T	Exception_encountered					PRMT1_ENST00000391851.4_Splice_Site_p.R327_splice|PRMT1_ENST00000527866.1_3'UTR|PRMT1_ENST00000454376.2_Splice_Site_p.R345_splice	p.R299_splice			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	11	1401	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	326					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.894_splice	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	c	19.30	3.801386	0.70567	.	.	ENSG00000126457	ENST00000532489;ENST00000391851;ENST00000454376	D;D;D	0.91521	-2.86;-2.86;-2.86	4.4	4.4	0.53042	.	0.000000	0.85682	U	0.000000	D	0.96947	0.9003	H	0.97440	4.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	D	0.98104	1.0416	9	.	.	.	-14.1466	14.5746	0.68238	0.0:1.0:0.0:0.0	.	335;299;327;321	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	W	299;327;345	ENSP00000433556:R299W;ENSP00000375724:R327W;ENSP00000406162:R345W	.	R	+	1	2	PRMT1	54883231	1.000000	0.71417	0.995000	0.50966	0.797000	0.45037	4.535000	0.60629	2.309000	0.77851	0.450000	0.29827	CGG		0.692	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		24	49	0	0	0	1	0	24	49				
ZFHX3	463	broad.mit.edu	37	16	72923683	72923683	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:72923683T>C	ENST00000268489.5	-	4	4067	c.3395A>G	c.(3394-3396)gAc>gGc	p.D1132G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D218G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1132					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGTCCTCGTCCTCCTCTGG	0.637																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3394-3396)gAc>gGc		zinc finger homeobox 3							59.0	52.0	55.0					16																	72923683		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72923683T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3395A>G	16.37:g.72923683T>C	ENSP00000268489:p.Asp1132Gly					ZFHX3_ENST00000397992.5_Missense_Mutation_p.D218G	p.D1132G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			4	4067	-		Ovarian(137;0.13)	1132					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3395A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714476	0.48622	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.47869	0.83;0.83	5.41	5.41	0.78517	.	0.120271	0.36066	N	0.002808	T	0.25606	0.0623	N	0.02011	-0.69	0.50313	D	0.999863	B	0.17465	0.022	B	0.15484	0.013	T	0.12016	-1.0564	10	0.56958	D	0.05	.	15.7116	0.77631	0.0:0.0:0.0:1.0	.	1132	Q15911	ZFHX3_HUMAN	G	1132;218	ENSP00000268489:D1132G;ENSP00000438926:D218G	ENSP00000268489:D1132G	D	-	2	0	ZFHX3	71481184	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.641000	0.83368	2.178000	0.69098	0.418000	0.28097	GAC		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	17	0	0	0	1	0	13	17				
SYT15	83849	broad.mit.edu	37	10	46969394	46969394	+	Missense_Mutation	SNP	C	C	T	rs529094262	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:46969394C>T	ENST00000374321.4	-	2	133	c.67G>A	c.(67-69)Ggg>Agg	p.G23R	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_Missense_Mutation_p.G23R|SYT15_ENST00000374325.3_Missense_Mutation_p.G23R|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CAGCTTGCCCCGATCAACAGC	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		36510	0.0		0.0	False		,,,				2504	0.0031				Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(67-69)Ggg>Agg		synaptotagmin XV							27.0	35.0	33.0					10																	46969394		2160	4280	6440	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46969394C>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.67G>A	10.37:g.46969394C>T	ENSP00000363441:p.Gly23Arg					SYT15_ENST00000374321.4_Missense_Mutation_p.G23R|SYT15_ENST00000503753.1_Missense_Mutation_p.G23R|SYT15_ENST00000374323.3_Intron	p.G23R	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	219	-			23					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.67G>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.085651	0.36758	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374321	T;T;T	0.16324	2.35;2.35;2.62	3.75	-0.867	0.10655	.	.	.	.	.	T	0.14614	0.0353	M	0.62723	1.935	0.09310	N	1	B;B	0.18310	0.009;0.027	B;B	0.08055	0.001;0.003	T	0.32771	-0.9894	9	0.25106	T	0.35	.	5.3976	0.16278	0.5274:0.3681:0.0:0.1045	.	23;23	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	R	23	ENSP00000363445:G23R;ENSP00000427607:G23R;ENSP00000363441:G23R	ENSP00000363441:G23R	G	-	1	0	SYT15	46389400	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	0.038000	0.13862	-0.284000	0.09102	0.467000	0.42956	GGG		0.637	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		12	49	0	0	0	1	0	12	49				
JARID2	3720	broad.mit.edu	37	6	15496663	15496663	+	Missense_Mutation	SNP	G	G	A	rs142358716	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:15496663G>A	ENST00000341776.2	+	7	1451	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	JARID2_ENST00000541660.1_Missense_Mutation_p.A365T|JARID2_ENST00000397311.3_Missense_Mutation_p.A231T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	403					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CACTGGGCCCGCCGTCAATGG	0.612													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15429	0.0		0.0	False		,,,				2504	0.0					ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1207-1209)Gcc>Acc		jumonji, AT rich interactive domain 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	50.0	60.0	57.0		1207	3.0	1.0	6	dbSNP_134	57	0,8600		0,0,4300	yes	missense	JARID2	NM_004973.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	403/1247	15496663	2,13004	2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496663G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1207G>A	6.37:g.15496663G>A	ENSP00000341280:p.Ala403Thr					JARID2_ENST00000397311.3_Missense_Mutation_p.A231T|JARID2_ENST00000541660.1_Missense_Mutation_p.A365T	p.A403T	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1451	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	403					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1207G>A	CCDS4533.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.34	3.096697	0.56075	4.54E-4	0.0	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.37752	1.18;1.18;1.18	4.9	3.03	0.35002	.	0.408810	0.27581	N	0.018728	T	0.08403	0.0209	N	0.19112	0.55	0.33039	D	0.531191	B;P;B	0.48998	0.017;0.918;0.002	B;B;B	0.33799	0.003;0.17;0.001	T	0.09058	-1.0692	10	0.38643	T	0.18	-5.4969	10.5919	0.45314	0.0732:0.1319:0.7949:0.0	.	365;267;403	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	T	267;403;231;365	ENSP00000341280:A403T;ENSP00000380478:A231T;ENSP00000444623:A365T	ENSP00000341280:A403T	A	+	1	0	JARID2	15604642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.170000	0.50816	1.280000	0.44463	0.655000	0.94253	GCC		0.612	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		24	28	0	0	0	1	0	24	28				
ARHGEF2	9181	broad.mit.edu	37	1	155931685	155931685	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:155931685C>T	ENST00000361247.4	-	11	1334	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R457H|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R413H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R384H|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R384H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R411H	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	412	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGTCCTGGCGCTCCTCCTC	0.582																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1150-1152)cGc>cAc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							77.0	76.0	76.0					1																	155931685		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931685C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1235G>A	1.37:g.155931685C>T	ENSP00000354837:p.Arg412His					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R412H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R413H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R411H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R384H	p.R384H			Q92974	ARHG2_HUMAN			15	1621	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		412			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1151G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.624053	0.00820	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.86	-0.245	0.13027	Dbl homology (DH) domain (5);	0.754197	0.11732	N	0.534835	T	0.08537	0.0212	N	0.00648	-1.295	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.44513	-0.9323	10	0.02654	T	1	-7.3338	7.8921	0.29684	0.0:0.4414:0.0:0.5586	.	457;456;412;411	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	H	384;412;413;384;457;385;411	ENSP00000315325:R384H;ENSP00000354837:R412H;ENSP00000357298:R413H;ENSP00000357299:R384H;ENSP00000314787:R411H	ENSP00000314787:R411H	R	-	2	0	ARHGEF2	154198309	0.000000	0.05858	0.525000	0.27900	0.225000	0.24961	-0.574000	0.05868	0.065000	0.16485	-0.218000	0.12543	CGC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		17	42	0	0	0	1	0	17	42				
RPS6	6194	broad.mit.edu	37	9	19376346	19376346	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:19376346C>T	ENST00000380394.4	-	6	753	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RPS6_ENST00000315377.4_Missense_Mutation_p.R201H|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.R201H|RP11-513M16.8_ENST00000609982.1_RNA	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	232					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.R232H(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GGAAAGTCTGCGTCTCTTCGC	0.398																																						ENST00000380394.4																			1	Substitution - Missense(1)	p.R232H(1)	endometrium(1)	endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(694-696)cGc>cAc		ribosomal protein S6							65.0	67.0	66.0					9																	19376346		2203	4300	6503	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376346C>T		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.695G>A	9.37:g.19376346C>T	ENSP00000369757:p.Arg232His					RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.R201H|RPS6_ENST00000315377.4_Missense_Mutation_p.R201H	p.R232H	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	753	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	232					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.695G>A	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283597	0.80803	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.51071	0.73;0.72;0.72	5.08	5.08	0.68730	.	0.052492	0.85682	D	0.000000	T	0.54447	0.1859	M	0.66939	2.045	0.80722	D	1	D	0.56521	0.976	P	0.46629	0.522	T	0.57670	-0.7771	9	.	.	.	0.0627	18.8394	0.92176	0.0:1.0:0.0:0.0	.	232	P62753	RS6_HUMAN	H	232;201;201	ENSP00000369757:R232H;ENSP00000369745:R201H;ENSP00000369743:R201H	.	R	-	2	0	RPS6	19366346	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	7.755000	0.85180	2.498000	0.84270	0.655000	0.94253	CGC		0.398	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		9	110	0	0	0	1	0	9	110				
FREM2	341640	broad.mit.edu	37	13	39265208	39265208	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:39265208A>G	ENST00000280481.7	+	1	3943	c.3727A>G	c.(3727-3729)Ata>Gta	p.I1243V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1243					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAATCAGCTGATAAATGGCAC	0.443																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3727-3729)Ata>Gta		FRAS1 related extracellular matrix protein 2							222.0	215.0	217.0					13																	39265208		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265208A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3727A>G	13.37:g.39265208A>G	ENSP00000280481:p.Ile1243Val						p.I1243V	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3943	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1243					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3727A>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.600536	0.00849	.	.	ENSG00000150893	ENST00000280481	T	0.50277	0.75	6.01	2.22	0.28083	Cadherin (1);	0.215082	0.49916	N	0.000132	T	0.30541	0.0768	L	0.35414	1.06	0.19300	N	0.999974	B	0.06786	0.001	B	0.08055	0.003	T	0.15636	-1.0430	10	0.25751	T	0.34	.	5.9765	0.19382	0.5754:0.233:0.1916:0.0	.	1243	Q5SZK8	FREM2_HUMAN	V	1243	ENSP00000280481:I1243V	ENSP00000280481:I1243V	I	+	1	0	FREM2	38163208	0.000000	0.05858	0.144000	0.22314	0.103000	0.19146	0.458000	0.21892	0.161000	0.19458	0.533000	0.62120	ATA		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		72	74	0	0	0	1	0	72	74				
CLSTN1	22883	broad.mit.edu	37	1	9795233	9795233	+	Splice_Site	SNP	C	C	G	rs113333732		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:9795233C>G	ENST00000377298.4	-	14	2676		c.e14-1		CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Splice_Site|CLSTN1_ENST00000377288.3_Splice_Site	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTTAAAACACCTGCCAGCAAG	0.587																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.e14-1		calsyntenin 1							51.0	55.0	54.0					1																	9795233		2203	4300	6503	SO:0001630	splice_region_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9795233C>G	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1884-1G>C	1.37:g.9795233C>G						CLSTN1_ENST00000377288.3_Splice_Site|CLSTN1_ENST00000361311.4_Splice_Site		NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	14	2676	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Splice_Site	SNP	ENST00000377298.4	37		CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014328	0.93404	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLSTN1	9717820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.761000	0.85260	2.793000	0.96121	0.655000	0.94253	.		0.587	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		Intron	8	51	0	0	0	1	0	8	51				
YWHAB	7529	broad.mit.edu	37	20	43530232	43530232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:43530232C>T	ENST00000372839.3	+	3	332	c.58C>T	c.(58-60)Cga>Tga	p.R20*	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Nonsense_Mutation_p.R20*	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	20					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GCAGGCTGAGCGATATGATGA	0.458																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(58-60)Cga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							69.0	67.0	68.0					20																	43530232		2203	4300	6503	SO:0001587	stop_gained	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530232C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.58C>T	20.37:g.43530232C>T	ENSP00000361930:p.Arg20*					YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Nonsense_Mutation_p.R20*	p.R20*	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			3	332	+		Myeloproliferative disorder(115;0.0122)	20					A8K9K2|E1P616	Nonsense_Mutation	SNP	ENST00000372839.3	37	c.58C>T	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	C	36	5.937782	0.97122	.	.	ENSG00000166913	ENST00000353703;ENST00000372839;ENST00000428262;ENST00000445830	.	.	.	5.65	5.65	0.86999	.	0.045255	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6777	20.1057	0.97893	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000300161:R20X	R	+	1	2	YWHAB	42963646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGA		0.458	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		28	37	0	0	0	1	0	28	37				
ZMYM6	9204	broad.mit.edu	37	1	35484911	35484912	+	Intron	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:35484911_35484912insA	ENST00000357182.4	-	4	656				ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Ins_p.L157fs|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000317538.5_Frame_Shift_Ins_p.L157fs|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ATATACACACTAAAAAAAAGGT	0.342																																						ENST00000317538.5																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(469-471)tgtfs		zinc finger, MYM-type 6																																				SO:0001627	intron_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35484911_35484912insA	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.428+41->T	1.37:g.35484919_35484919dupA						ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Ins_p.C157fs	p.C157fs			O95789	ZMYM6_HUMAN			4	634_635	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	0					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Ins	INS	ENST00000357182.4	37	c.470_471insT	CCDS387.2																																																																																				0.342	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		22	26						22	26	---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47395847	47395848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:47395847_47395848insT	ENST00000310638.4	-	12	1530_1531	c.1499_1500insA	c.(1498-1500)aatfs	p.N500fs	CYP4A11_ENST00000462347.1_Frame_Shift_Ins_p.N402fs|CYP4A11_ENST00000371904.4_Frame_Shift_Ins_p.N501fs	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	500			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GGTGGATTCCATTTTTGGATTT	0.589																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1498-1500)aggfs		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)																																			SO:0001589	frameshift_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395847_47395848insT	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1500dupA	1.37:g.47395852_47395852dupT	ENSP00000311095:p.Asn500fs					CYP4A11_ENST00000371904.4_Frame_Shift_Ins_p.R501fs|CYP4A11_ENST00000475477.1_5'UTR	p.R500fs	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			12	1530_1531	-			500		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Frame_Shift_Ins	INS	ENST00000310638.4	37	c.1499_1500insA	CCDS543.1																																																																																				0.589	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		12	32						12	32	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78184290	78184291	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:78184290_78184291insT	ENST00000370793.1	-	17	2166_2167	c.1820_1821insA	c.(1819-1821)aacfs	p.N607fs	USP33_ENST00000370794.3_Frame_Shift_Ins_p.N576fs|USP33_ENST00000357428.1_Frame_Shift_Ins_p.N607fs|USP33_ENST00000370792.3_Frame_Shift_Ins_p.N599fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	607	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTCAGGAAAGTTTTGTACTTT	0.282																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1819-1821)attfs		ubiquitin specific peptidase 33																																				SO:0001589	frameshift_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78184290_78184291insT	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1821dupA	1.37:g.78184294_78184294dupT	ENSP00000359829:p.Asn607fs					USP33_ENST00000357428.1_Frame_Shift_Ins_p.I607fs|USP33_ENST00000370792.3_Frame_Shift_Ins_p.I599fs|USP33_ENST00000370794.3_Frame_Shift_Ins_p.I576fs	p.I607fs	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			17	2166_2167	-			607					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Frame_Shift_Ins	INS	ENST00000370793.1	37	c.1820_1821insA	CCDS678.1																																																																																				0.282	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		13	77						13	77	---	---	---	---
GBP1P1	400759	broad.mit.edu	37	1	89887193	89887193	+	RNA	DEL	T	T	-	rs372068671		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:89887193delT	ENST00000513638.1	+	0	557					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		AATGGAGGACTTTTTTTTATT	0.318																																						ENST00000513638.1																			0																																																			0							g.chr1:89887193delT			1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89887193delT								NR_003133.2						0	557	+									RNA	DEL	ENST00000513638.1	37																																																																																						0.318	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1	NR_003133		2	4						2	4	---	---	---	---
PLPPR5	163404	broad.mit.edu	37	1	99422227	99422228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:99422227_99422228insT	ENST00000263177.4	-	2	528_529	c.307_308insA	c.(307-309)actfs	p.T103fs	LPPR5_ENST00000370188.3_Frame_Shift_Ins_p.T103fs	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		103						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AGTTAAAATAGTTTTTTCCTGG	0.337																																						ENST00000370188.3																			0											c.(307-309)tatfs																																						SO:0001589	frameshift_variant	0					integral to membrane	hydrolase activity	g.chr1:99422227_99422228insT																												ENST00000263177.4:c.308dupA	1.37:g.99422233_99422233dupT	ENSP00000263177:p.Thr103fs					LPPR5_ENST00000263177.4_Frame_Shift_Ins_p.Y103fs	p.Y103fs	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			2	667_668	-			103					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Frame_Shift_Ins	INS	ENST00000263177.4	37	c.307_308insA	CCDS30778.1																																																																																				0.337	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			21	31						21	31	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158548712	158548712	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:158548712delT	ENST00000368150.1	-	1	977	c.978delA	c.(976-978)aaafs	p.K326fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCCAAGATTATTTTTTCAAGG	0.423																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(976-978)aafs		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							142.0	147.0	145.0					1																	158548712		2203	4300	6503	SO:0001589	frameshift_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548712delT	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.978delA	1.37:g.158548712delT	ENSP00000357132:p.Lys326fs						p.K326fs	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	977	-	all_hematologic(112;0.0378)		326					Q6IFR8	Frame_Shift_Del	DEL	ENST00000368150.1	37	c.978delA	CCDS30900.1																																																																																				0.423	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		57	104						57	104	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186934587	186934588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:186934587_186934588insA	ENST00000367466.3	+	15	1778_1779	c.1626_1627insA	c.(1627-1629)aaafs	p.K543fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.K483fs	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	543	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGTCAAAAGTAAAAAGATTCA	0.361																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1624-1629)agaaaafs		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)																																			SO:0001589	frameshift_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186934587_186934588insA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1631dupA	1.37:g.186934592_186934592dupA	ENSP00000356436:p.Lys543fs					PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.RK482fs	p.RK542fs	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			15	1778_1779	+			542			PLA2c.		B1AKG4|Q29R80	Frame_Shift_Ins	INS	ENST00000367466.3	37	c.1626_1627insA	CCDS1372.1																																																																																				0.361	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		25	43						25	43	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235964219	235964220	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:235964219_235964220insA	ENST00000389794.3	-	9	4064_4065	c.3890_3891insT	c.(3889-3891)ttgfs	p.L1297fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.L1297fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.L1297fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1297					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAATAATTTTCAAAAAACTCTC	0.322																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3889-3891)taafs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964219_235964220insA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3891dupT	1.37:g.235964225_235964225dupA	ENSP00000374444:p.Leu1297fs					LYST_ENST00000389793.2_Frame_Shift_Ins_p.*1297fs|LYST_ENST00000536965.1_Frame_Shift_Ins_p.*1297fs	p.*1297fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	4064_4065	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1297					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	c.3890_3891insT	CCDS31062.1																																																																																				0.322	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			28	37						28	37	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112.0	116.0	115.0					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			54	80						54	80	---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16085913	16085913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:16085913delC	ENST00000281043.3	+	3	1386	c.1089delC	c.(1087-1089)atcfs	p.I363fs		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	363				I -> V (in Ref. 3; CAA68678). {ECO:0000305}.	branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGAGTGTCATCCCCCCAAAGG	0.602			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1087-1089)atfs		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							45.0	46.0	46.0					2																	16085913		2203	4300	6503	SO:0001589	frameshift_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085913delC	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1089delC	2.37:g.16085913delC	ENSP00000281043:p.Ile363fs						p.I363fs	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1386	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		363	I -> V (in Ref. 3; CAA68678).				Q53XS5|Q6LDT9	Frame_Shift_Del	DEL	ENST00000281043.3	37	c.1089delC	CCDS1687.1																																																																																				0.602	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		15	22						15	22	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456982	27456982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:27456982delC	ENST00000403525.1	+	21	3461	c.3317delC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGTGACCCCCCCACAA	0.577																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)acfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						91.0	74.0	79.0					2																	27456982		2203	4300	6503	SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456982delC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3317delC	2.37:g.27456982delC	ENSP00000384510:p.Thr1106fs					CAD_ENST00000403525.1_Frame_Shift_Del_p.T1106fs	p.T1169fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			22	3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37	c.3506delC																																																																																					0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			23	27						23	27	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026866	48026866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:48026866delT	ENST00000234420.5	+	4	1896	c.1744delT	c.(1744-1746)tttfs	p.F582fs	MSH6_ENST00000538136.1_Frame_Shift_Del_p.F280fs|MSH6_ENST00000540021.1_Frame_Shift_Del_p.F452fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	582					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGTTCGAGATTTAGGACTCT	0.388			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1744-1746)ttfs	Mismatch excision repair (MMR)	mutS homolog 6							141.0	139.0	139.0					2																	48026866		2197	4299	6496	SO:0001589	frameshift_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026866delT	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1744delT	2.37:g.48026866delT	ENSP00000234420:p.Phe582fs					MSH6_ENST00000540021.1_Frame_Shift_Del_p.F452fs|MSH6_ENST00000538136.1_Frame_Shift_Del_p.F280fs|FBXO11_ENST00000405808.1_Intron	p.F582fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1896	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	582					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Del	DEL	ENST00000234420.5	37	c.1744delT	CCDS1836.1																																																																																				0.388	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		72	115						72	115	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64120618	64120618	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:64120618delT	ENST00000272322.4	-	23	3034	c.2880delA	c.(2878-2880)aaafs	p.K960fs	VPS54_ENST00000354504.3_Frame_Shift_Del_p.K807fs|VPS54_ENST00000409558.4_Frame_Shift_Del_p.K948fs			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	960					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTTAAGGCCTTTTAAGGCTT	0.373																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2419-2421)aafs		vacuolar protein sorting 54 homolog (S. cerevisiae)							135.0	143.0	141.0					2																	64120618		2203	4300	6503	SO:0001589	frameshift_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64120618delT	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2880delA	2.37:g.64120618delT	ENSP00000272322:p.Lys960fs					VPS54_ENST00000409558.3_Frame_Shift_Del_p.K948fs|VPS54_ENST00000272322.4_Frame_Shift_Del_p.K960fs	p.K807fs			Q9P1Q0	VPS54_HUMAN			20	3010	-			960					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Frame_Shift_Del	DEL	ENST00000272322.4	37	c.2421delA	CCDS33208.1																																																																																				0.373	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		48	94						48	94	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102452432	102452432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:102452432delA	ENST00000347699.4	+	9	765	c.765delA	c.(763-765)tcafs	p.S255fs	MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.S235fs|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000413150.2_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000302217.5_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCTGAAGTCAAAAAAATGGT	0.413																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(763-765)tcfs		mitogen-activated protein kinase kinase kinase kinase 4							71.0	71.0	71.0					2																	102452432		1827	4090	5917	SO:0001589	frameshift_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102452432delA	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.765delA	2.37:g.102452432delA	ENSP00000314363:p.Ser255fs					MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.S235fs|MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000347699.4_Frame_Shift_Del_p.S255fs|MAP4K4_ENST00000456652.1_Intron	p.S255fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			9	820	+			255			Protein kinase.		O75172|Q9NST7	Frame_Shift_Del	DEL	ENST00000347699.4	37	c.765delA	CCDS56130.1																																																																																				0.413	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		7	8						7	8	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041595	107041595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:107041595delT	ENST00000409886.3	-	20	2915	c.2828delA	c.(2827-2829)aatfs	p.N943fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.N943fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	943					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCAGTATCATTTTCAAGAGG	0.418																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2827-2829)atfs		RANBP2-like and GRIP domain containing 3							185.0	142.0	155.0					2																	107041595		692	1590	2282	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041595delT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2828delA	2.37:g.107041595delT	ENSP00000386588:p.Asn943fs					RGPD3_ENST00000304514.7_Frame_Shift_Del_p.N943fs	p.N943fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	2915	-			943					B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.2828delA	CCDS46379.1																																																																																				0.418	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		24	507						24	507	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113147697	113147697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:113147697delT	ENST00000302558.3	-	20	3016	c.2825delA	c.(2824-2826)aatfs	p.N942fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.N802fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	942					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCCAGTATCATTTTCAAGAGG	0.428																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2824-2826)atfs		RANBP2-like and GRIP domain containing 8							151.0	109.0	121.0					2																	113147697		692	1590	2282	SO:0001589	frameshift_variant	727851							g.chr2:113147697delT	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2825delA	2.37:g.113147697delT	ENSP00000306637:p.Asn942fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.N802fs	p.N942fs	NM_001164463.1	NP_001157935.1					20	3016	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2825delA	CCDS46394.1																																																																																				0.428	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		16	474						16	474	---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159077216	159077217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:159077216_159077217insT	ENST00000283233.5	-	11	1573_1574	c.1260_1261insA	c.(1258-1263)aaatacfs	p.Y421fs	CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.Y430fs|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	421	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGGCCCAGTATTTTTTTATCT	0.317																																						ENST00000283233.5																			1	Deletion - Frameshift(1)	p.K420fs*15(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1258-1263)aaactgfs		coiled-coil domain containing 148																																				SO:0001589	frameshift_variant	130940							g.chr2:159077216_159077217insT		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1261dupA	2.37:g.159077223_159077223dupT	ENSP00000283233:p.Tyr421fs					CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.L430fs	p.L421fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			11	1573_1574	-			421			Glu/Lys-rich.		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Ins	INS	ENST00000283233.5	37	c.1260_1261insA	CCDS33304.1																																																																																				0.317	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		15	24						15	24	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179549439	179549440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:179549439_179549440insT	ENST00000591111.1	-	129	31864_31865	c.31640_31641insA	c.(31639-31641)aagfs	p.K10547fs	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.K9620fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.K10864fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGGAACCTTTTTTTCTGG	0.411																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(32590-32592)agtfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179549439_179549440insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31641dupA	2.37:g.179549446_179549446dupT	ENSP00000465570:p.Lys10547fs					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.S10547fs|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.S9620fs	p.S10864fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		131	32815_32816	-			10547			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.32591_32592insA																																																																																					0.411	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	40						34	40	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190728676	190728678	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190728676_190728678delAAG	ENST00000441310.2	+	10	2297_2299	c.2064_2066delAAG	c.(2062-2067)aaaaga>aaa	p.R690del	PMS1_ENST00000418224.3_In_Frame_Del_p.R514del|PMS1_ENST00000409823.3_In_Frame_Del_p.R651del|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_In_Frame_Del_p.R514del|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	690					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAATTGAAAAAAGAAGGAGTCAA	0.33			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2062-2067)aaa>aa	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			,,	8,4258		2,4,2127					,,	5.4	1.0			68	4,8248		2,0,4124	no	intron,coding,coding	PMS1	NM_001128144.1,NM_001128143.1,NM_000534.4	,,	4,4,6251	A1A1,A1R,RR		0.0485,0.1875,0.0959	,,	,,		12,12506				SO:0001651	inframe_deletion	0				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728676_190728678delAAG		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2064_2066delAAG	2.37:g.190728679_190728681delAAG	ENSP00000406490:p.Arg690del					PMS1_ENST00000447232.2_Intron|PMS1_ENST00000418224.3_In_Frame_Del_p.KR512del|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_In_Frame_Del_p.KR512del|PMS1_ENST00000409823.3_In_Frame_Del_p.KR649del	p.KR688del	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2297_2299	+			688					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	In_Frame_Del	DEL	ENST00000441310.2	37	c.2064_2066delAAG	CCDS2302.1																																																																																				0.330	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			32	60						32	60	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190922151	190922152	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:190922151_190922152insT	ENST00000260950.4	-	3	1092_1093	c.960_961insA	c.(958-963)aaatatfs	p.Y321fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	321					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GTATGAGGATATTTTTGTAAAA	0.391																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(958-963)aaatccfs		myostatin																																				SO:0001589	frameshift_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922151_190922152insT	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.961dupA	2.37:g.190922156_190922156dupT	ENSP00000260950:p.Tyr321fs					C2orf88_ENST00000478197.1_Intron	p.S321fs	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	1092_1093	-			321					A1C2J7|A1C2K0|Q6B0H2	Frame_Shift_Ins	INS	ENST00000260950.4	37	c.960_961insA	CCDS2303.1																																																																																				0.391	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		19	43						19	43	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(847-849)aaafs	p.K283fs	BZW1_ENST00000409226.1_Frame_Shift_Ins_p.K287fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.K315fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	283	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-849)ataaaafs		basic leucine zipper and W2 domains 1			,,,	2,3514		0,2,1756					,,,	5.6	1.0			76	2,7816		0,2,3907	no	frameshift,frameshift,frameshift,frameshift	BZW1	NM_014670.3,NM_001207069.1,NM_001207068.1,NM_001207067.1	,,,	0,4,5663	A1A1,A1R,RR		0.0256,0.0569,0.0353	,,,	,,,		4,11330				SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504_201683505insA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.854dupA	2.37:g.201683512_201683512dupA	ENSP00000386474:p.Lys283fs					BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs	p.IK282fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301_1302	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Ins	INS	ENST00000409600.1	37	c.846_847insA	CCDS56156.1																																																																																				0.371	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		15	28						15	28	---	---	---	---
CARF	79800	broad.mit.edu	37	2	203839141	203839141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:203839141delA	ENST00000402905.3	+	12	1737	c.1416delA	c.(1414-1416)atafs	p.I472fs	CARF_ENST00000545253.1_Frame_Shift_Del_p.I384fs|CARF_ENST00000414439.1_Frame_Shift_Del_p.I370fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Frame_Shift_Del_p.I472fs|CARF_ENST00000428585.1_Frame_Shift_Del_p.I396fs|CARF_ENST00000320443.8_Frame_Shift_Del_p.I472fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.I396fs	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	472					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAAATGATATAAAAAATCACA	0.333																																						ENST00000320443.8																			0											c.(1414-1416)atfs		calcium responsive transcription factor							86.0	89.0	88.0					2																	203839141		1823	4071	5894	SO:0001589	frameshift_variant	79800							g.chr2:203839141delA	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1416delA	2.37:g.203839141delA	ENSP00000384006:p.Ile472fs					CARF_ENST00000428585.1_Frame_Shift_Del_p.I396fs|CARF_ENST00000402905.2_Frame_Shift_Del_p.I472fs|CARF_ENST00000414439.1_Frame_Shift_Del_p.I370fs|CARF_ENST00000545262.1_Frame_Shift_Del_p.I396fs|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Frame_Shift_Del_p.I384fs|CARF_ENST00000438828.2_Frame_Shift_Del_p.I472fs	p.I472fs							12	2459	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Frame_Shift_Del	DEL	ENST00000402905.3	37	c.1416delA	CCDS42801.1																																																																																				0.333	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		9	48						9	48	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219892686	219892687	+	Frame_Shift_Ins	INS	-	-	G	rs532323836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr2:219892686_219892687insG	ENST00000341552.5	-	13	1979_1980	c.1896_1897insC	c.(1894-1899)cccatgfs	p.M633fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.M633fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.M633fs|CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.M622fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.M568fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	633						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATAT	0.599																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1894-1899)cctgacfs		coiled-coil domain containing 108																																				SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892686_219892687insG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1897dupC	2.37:g.219892693_219892693dupG	ENSP00000340776:p.Met633fs					CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.D633fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.D633fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.D568fs|CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.D622fs	p.D633fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1979_1980	-		Renal(207;0.0915)	633					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	c.1896_1897insC	CCDS2430.2																																																																																				0.599	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		34	54						34	54	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:1371501delA	ENST00000446702.2	+	11	1873	c.1246delA	c.(1246-1248)aaafs	p.K418fs	CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs|CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs			Q9UQ52	CNTN6_HUMAN	contactin 6	418	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393																																						ENST00000446702.2																			1	Deletion - Frameshift(1)	p.K418fs*63(1)	large_intestine(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1246-1248)aafs		contactin 6							79.0	82.0	81.0					3																	1371501		2203	4297	6500	SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1371501delA	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1246delA	3.37:g.1371501delA	ENSP00000407822:p.Lys418fs					CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs|CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs	p.K418fs			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	11	1873	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	418			Ig-like C2-type 5.		Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	c.1246delA	CCDS2557.1																																																																																				0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		27	63						27	63	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		3	3						3	3	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101525972	101525973	+	Splice_Site	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:101525972_101525973insA	ENST00000491511.2	+	6	1878		c.e6+2		NXPE3_ENST00000422132.1_Splice_Site|NXPE3_ENST00000477909.1_Splice_Site|NXPE3_ENST00000273347.5_Splice_Site	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3							extracellular region (GO:0005576)											GAATAAAAGGTAAAAAAAAGAA	0.351																																						ENST00000422132.1																			0											c.e3+2		neurexophilin and PC-esterase domain family, member 3																																				SO:0001630	splice_region_variant	91775							g.chr3:101525972_101525973insA	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.922+2->A	3.37:g.101525980_101525980dupA						NXPE3_ENST00000491511.1_Splice_Site|NXPE3_ENST00000477909.1_Splice_Site|NXPE3_ENST00000273347.5_Splice_Site								3	1119	+								A8K0X4|D3DN53|Q7Z2S8	Splice_Site	INS	ENST00000491511.2	37		CCDS2945.1																																																																																				0.351	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	Intron	26	25						26	25	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208979	121208979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:121208979delT	ENST00000264233.5	-	16	2927	c.2799delA	c.(2797-2799)aaafs	p.K933fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	933					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGATGTTAATTTTTTATAAG	0.308								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2797-2799)aafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							45.0	44.0	44.0					3																	121208979		2203	4299	6502	SO:0001589	frameshift_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208979delT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2799delA	3.37:g.121208979delT	ENSP00000264233:p.Lys933fs						p.K933fs	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2927	-			933					O95160|Q6VMB5	Frame_Shift_Del	DEL	ENST00000264233.5	37	c.2799delA	CCDS33833.1																																																																																				0.308	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		24	34						24	34	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:179069813delT	ENST00000471841.1	+	3	364	c.238delT	c.(238-240)tttfs	p.F81fs	MFN1_ENST00000280653.7_Frame_Shift_Del_p.F81fs|MFN1_ENST00000263969.5_Frame_Shift_Del_p.F81fs	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	81	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGTGGCATTTTTTGGCAG	0.388																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(238-240)ttfs		mitofusin 1							143.0	149.0	147.0					3																	179069813		2203	4300	6503	SO:0001589	frameshift_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069813delT	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.238delT	3.37:g.179069813delT	ENSP00000420617:p.Phe81fs					MFN1_ENST00000263969.5_Frame_Shift_Del_p.F81fs|MFN1_ENST00000280653.7_Frame_Shift_Del_p.F81fs	p.F81fs	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	364	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		81					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Frame_Shift_Del	DEL	ENST00000471841.1	37	c.238delT	CCDS3228.1																																																																																				0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		45	92						45	92	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180323592	180323593	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr3:180323592_180323593insA	ENST00000296015.4	+	7	1028_1029	c.896_897insA	c.(895-900)agaaaafs	p.RK299fs	TTC14_ENST00000382584.4_Frame_Shift_Ins_p.RK299fs|TTC14_ENST00000412756.2_Frame_Shift_Ins_p.RK299fs	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	299							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGCATTGAGAAAAAAACAAT	0.292																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(895-897)aaafs		tetratricopeptide repeat domain 14																																				SO:0001589	frameshift_variant	151613						RNA binding	g.chr3:180323592_180323593insA	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.903dupA	3.37:g.180323599_180323599dupA	ENSP00000296015:p.Arg299fs					TTC14_ENST00000296015.4_Frame_Shift_Ins_p.K299fs|TTC14_ENST00000382584.4_Frame_Shift_Ins_p.K299fs	p.K299fs	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	965_966	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		299					G5E9X0|Q6UWJ7|Q8TF22	Frame_Shift_Ins	INS	ENST00000296015.4	37	c.896_897insA	CCDS3237.1																																																																																				0.292	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		34	82						34	82	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26417146	26417146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:26417146delA	ENST00000361572.6	+	4	438	c.244delA	c.(244-246)aaafs	p.K84fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.K70fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.K69fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.K70fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.K71fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.K70fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.K84fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.K49fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	84					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGGATGGAAGAAAAAAAAAGA	0.373																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(202-204)aafs		recombination signal binding protein for immunoglobulin kappa J region							96.0	104.0	102.0					4																	26417146		2203	4300	6503	SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417146delA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.244delA	4.37:g.26417146delA	ENSP00000354528:p.Lys84fs					RBPJ_ENST00000361572.6_Frame_Shift_Del_p.K84fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.K70fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.K71fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.K49fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.K84fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.K70fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.K69fs	p.K70fs			Q06330	SUH_HUMAN			4	378	+		Breast(46;0.0503)	84					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.202delA	CCDS3437.1																																																																																				0.373	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		15	112						15	112	---	---	---	---
TBC1D19	55296	broad.mit.edu	37	4	26638843	26638843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:26638843delA	ENST00000264866.4	+	5	583	c.305delA	c.(304-306)gaafs	p.E102fs	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Frame_Shift_Del_p.E37fs|AC093807.1_ENST00000580172.1_RNA	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	102							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGAAGTTGGGAAAAAAGAATT	0.259																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(304-306)gafs		TBC1 domain family, member 19							61.0	65.0	63.0					4																	26638843		2203	4297	6500	SO:0001589	frameshift_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26638843delA	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.305delA	4.37:g.26638843delA	ENSP00000264866:p.Glu102fs					TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Frame_Shift_Del_p.E37fs	p.E102fs	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			5	583	+		Breast(46;0.0503)	102					B9A6M0|Q9NUX1	Frame_Shift_Del	DEL	ENST00000264866.4	37	c.305delA	CCDS3439.1																																																																																				0.259	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		18	35						18	35	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55979611	55979612	+	Frame_Shift_Ins	INS	-	-	T	rs532356730		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:55979611_55979612insT	ENST00000263923.4	-	7	1130_1131	c.835_836insA	c.(835-837)accfs	p.T279fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	279	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCAGACTGGGTTTTTAGGTCT	0.416			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(835-837)ccafs		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979611_55979612insT	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.836dupA	4.37:g.55979616_55979616dupT	ENSP00000263923:p.Thr279fs	TSP Lung(20;0.16)					p.P279fs	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1130_1131	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		279			Ig-like C2-type 3.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Ins	INS	ENST00000263923.4	37	c.835_836insA	CCDS3497.1																																																																																				0.416	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			20	45						20	45	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56724596	56724597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:56724596_56724597insT	ENST00000381295.2	+	2	455_456	c.107_108insT	c.(106-111)tgttttfs	p.CF36fs	EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.CF36fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.CF36fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	36					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAAAGAACTGTTTTTTATGTG	0.337																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(106-108)tttfs		exocyst complex component 1																																				SO:0001589	frameshift_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56724596_56724597insT	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.113dupT	4.37:g.56724602_56724602dupT	ENSP00000370695:p.Cys36fs					EXOC1_ENST00000346134.7_Frame_Shift_Ins_p.F36fs|EXOC1_ENST00000349598.6_Frame_Shift_Ins_p.F36fs	p.F36fs	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			2	455_456	+	Glioma(25;0.08)|all_neural(26;0.101)		36					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Frame_Shift_Ins	INS	ENST00000381295.2	37	c.107_108insT	CCDS3502.1																																																																																				0.337	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		30	52						30	52	---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	102001725	102001725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr4:102001725delA	ENST00000394854.3	-	8	1602	c.919delT	c.(919-921)tcafs	p.S307fs	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000507176.1_Frame_Shift_Del_p.S209fs|PPP3CA_ENST00000523694.2_Frame_Shift_Del_p.S240fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	307					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTTGGTGCTGAAAAAATTGTA	0.318																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(919-921)cafs		protein phosphatase 3, catalytic subunit, alpha isozyme							72.0	73.0	73.0					4																	102001725		2202	4298	6500	SO:0001589	frameshift_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102001725delA		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.919delT	4.37:g.102001725delA	ENSP00000378323:p.Ser307fs					PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Frame_Shift_Del_p.S240fs|PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.S307fs|PPP3CA_ENST00000507176.1_Frame_Shift_Del_p.S209fs	p.S307fs	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	8	1602	-			307					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Frame_Shift_Del	DEL	ENST00000394854.3	37	c.919delT	CCDS34037.1																																																																																				0.318	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		30	46						30	46	---	---	---	---
SDHAP3	728609	broad.mit.edu	37	5	1589289	1589290	+	RNA	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:1589289_1589290insA	ENST00000436493.2	-	0	588_589									succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3																		gatctagttttaaaaaaacaaa	0.525																																						ENST00000436493.2																			0																																																			0							g.chr5:1589289_1589290insA			5p15.33	2014-03-20	2006-11-21	2006-11-21	ENSG00000185986	ENSG00000185986			18781	pseudogene	pseudogene	"""similar to succinate dehydrogenase flavoprotein subunit"""		"""succinate dehydrogenase complex, subunit A, flavoprotein-like"", ""SDHA C-terminal like"""	SDHAL, SDHACL			Standard	NR_003263		Approved		uc011cmd.2		OTTHUMG00000161733		5.37:g.1589296_1589296dupA														0	588_589	-									RNA	INS	ENST00000436493.2	37																																																																																						0.525	SDHAP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000365894.1			10	22						10	22	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5461107	5461107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:5461107delA	ENST00000296564.7	+	13	1882	c.1660delA	c.(1660-1662)aaafs	p.K554fs		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		554					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.K554E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CGTATTGTCTAAAATGATGGG	0.433																																						ENST00000296564.7																			1	Substitution - Missense(1)	p.K554E(1)	breast(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1660-1662)aafs		KIAA0947							164.0	162.0	163.0					5																	5461107		1868	4105	5973	SO:0001589	frameshift_variant	23379							g.chr5:5461107delA																												ENST00000296564.7:c.1660delA	5.37:g.5461107delA	ENSP00000296564:p.Lys554fs						p.K554fs	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	1882	+			554					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Frame_Shift_Del	DEL	ENST00000296564.7	37	c.1660delA	CCDS47187.1																																																																																				0.433	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			78	103						78	103	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs					FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		19	46						19	46	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12125469	12125469	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:12125469delA	ENST00000379388.2	+	4	5773	c.5441delA	c.(5440-5442)gaafs	p.E1814fs	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1814					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGATGTTGGAAAAGGATGTT	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(5440-5442)gafs		human immunodeficiency virus type I enhancer binding protein 1							176.0	161.0	165.0					6																	12125469		1839	4088	5927	SO:0001589	frameshift_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125469delA	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5441delA	6.37:g.12125469delA	ENSP00000368698:p.Glu1814fs						p.E1814fs	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5773	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1814					B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	c.5441delA	CCDS43426.1																																																																																				0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		22	125						22	125	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079568	31079568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:31079568delT	ENST00000259870.3	-	2	571	c.568delA	c.(568-570)atcfs	p.I190fs		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	190					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TGGGAAAGGATTTTTCCCCCG	0.617																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(568-570)tcfs		chromosome 6 open reading frame 15							31.0	34.0	33.0					6																	31079568		1768	3438	5206	SO:0001589	frameshift_variant	29113							g.chr6:31079568delT	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.568delA	6.37:g.31079568delT	ENSP00000259870:p.Ile190fs						p.I190fs	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	571	-			190					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Frame_Shift_Del	DEL	ENST00000259870.3	37	c.568delA	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		13	28						13	28	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751910	80751910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:80751910delA	ENST00000369798.2	+	22	2676	c.2565delA	c.(2563-2565)ggafs	p.G855fs	TTK_ENST00000230510.3_Frame_Shift_Del_p.G854fs|TTK_ENST00000509894.1_Frame_Shift_Del_p.G854fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	855					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G839G(1)|p.K841fs?(1)|p.G855G(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAAAAAGGGGAAAAAAATGAT	0.308																																						ENST00000509894.1																			3	Substitution - coding silent(2)|Deletion - Frameshift(1)	p.G839G(1)|p.K841fs?(1)|p.G855G(1)	kidney(2)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2560-2562)ggfs		TTK protein kinase							46.0	50.0	48.0					6																	80751910		2201	4284	6485	SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751910delA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2565delA	6.37:g.80751910delA	ENSP00000358813:p.Gly855fs					TTK_ENST00000369798.2_Frame_Shift_Del_p.G855fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.G854fs	p.G854fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3391	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	855					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.2562delA	CCDS4993.1																																																																																				0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	70						21	70	---	---	---	---
FAM26E	254228	broad.mit.edu	37	6	116836953	116836954	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:116836953_116836954insT	ENST00000368599.3	+	2	782_783	c.731_732insT	c.(730-735)tgttttfs	p.CF244fs	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	244					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAAA	0.46																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(730-732)tttfs		family with sequence similarity 26, member E																																				SO:0001589	frameshift_variant	254228					integral to membrane		g.chr6:116836953_116836954insT	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.738dupT	6.37:g.116836960_116836960dupT	ENSP00000357588:p.Cys244fs					TRAPPC3L_ENST00000368602.3_Intron	p.F244fs	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	782_783	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	244					B2RDJ9|B3KSR3	Frame_Shift_Ins	INS	ENST00000368599.3	37	c.731_732insT	CCDS5108.1																																																																																				0.460	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		13	68						13	68	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T	rs202061323		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)acafs	p.T304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	GRCh37	CI061497	AHI1	I		c.(910-912)aaafs		Abelson helper integration site 1																																				SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784283_135784284insT	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.911dupA	6.37:g.135784291_135784291dupT	ENSP00000356774:p.Thr304fs					AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1126_1127	-	Breast(56;0.239)|Colorectal(23;0.24)		304					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Ins	INS	ENST00000367800.4	37	c.910_911insA	CCDS47483.1																																																																																				0.307	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		12	56						12	56	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr6:144086413_144086414insA	ENST00000427704.2	+	6	807_808	c.677_678insA	c.(676-681)tcaaaafs	p.SK226fs	PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.SK157fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.SK214fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.SK146fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.SK237fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	226							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(676-678)taafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086413_144086414insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.685dupA	6.37:g.144086421_144086421dupA	ENSP00000391763:p.Ser226fs					PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs	p.*226fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	807_808	+			226					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.677_678insA	CCDS47492.1																																																																																				0.396	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		24	102						24	102	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48086204	48086205	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:48086204_48086205insA	ENST00000348904.3	+	5	710_711	c.498_499insA	c.(499-501)aaafs	p.K167fs	C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.K167fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.K212fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.K212fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.K45fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	167										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTGAAAAGGAGAAAAAAAAGGT	0.495																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(496-501)gaaaaafs		chromosome 7 open reading frame 57																																				SO:0001589	frameshift_variant	136288							g.chr7:48086204_48086205insA	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.506dupA	7.37:g.48086212_48086212dupA	ENSP00000335500:p.Lys167fs					C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.EK44fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.EK211fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.EK166fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.EK211fs	p.EK166fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			5	710_711	+			166					C9JBJ8	Frame_Shift_Ins	INS	ENST00000348904.3	37	c.498_499insA	CCDS47583.1																																																																																				0.495	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		6	8						6	8	---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50514009	50514009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:50514009delT	ENST00000419119.1	-	2	2530	c.977delA	c.(976-978)aagfs	p.K326fs	FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.K326fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	326	Necessary and sufficient for interaction with RAD51.				ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCCTAGAGACTTTTTTACACC	0.433																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(976-978)agfs		fidgetin-like 1							85.0	85.0	85.0					7																	50514009		2203	4300	6503	SO:0001589	frameshift_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514009delT	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.977delA	7.37:g.50514009delT	ENSP00000410811:p.Lys326fs					FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.K326fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.K326fs	p.K326fs			Q6PIW4	FIGL1_HUMAN			2	2530	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	326					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Frame_Shift_Del	DEL	ENST00000419119.1	37	c.977delA	CCDS5510.1																																																																																				0.433	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		23	42						23	42	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657208	72657208	+	RNA	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:72657208delA	ENST00000425256.1	-	0	2703									GTF2I repeat domain containing 2 pseudogene 1																		ctcaaaaaagaaaaaaaaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72657208delA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657208delA								NR_002164.1						0	2703	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		18	19						18	19	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91709345	91709345	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:91709345delA	ENST00000359028.2	+	32	8159	c.7934delA	c.(7933-7935)gaafs	p.E2645fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2633fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2645fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2645	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAATTGCAGAAAAAAATGTT	0.323			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7933-7935)gafs		A kinase (PRKA) anchor protein 9							35.0	39.0	37.0					7																	91709345		2185	4289	6474	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709345delA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7934delA	7.37:g.91709345delA	ENSP00000351922:p.Glu2645fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2633fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2645fs	p.E2645fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	8159	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2645			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.7934delA																																																																																					0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		20	36						20	36	---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107234540	107234540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:107234540delT	ENST00000005259.4	+	4	673	c.334delT	c.(334-336)tttfs	p.F113fs	BCAP29_ENST00000465919.1_Frame_Shift_Del_p.F19fs|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Frame_Shift_Del_p.F19fs|BCAP29_ENST00000379117.2_Frame_Shift_Del_p.F113fs|BCAP29_ENST00000379119.2_Frame_Shift_Del_p.F113fs|BCAP29_ENST00000445771.2_Frame_Shift_Del_p.F113fs	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	113					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.W114fs*2(2)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ATTTTCCCTATTTTTTTGGCT	0.328																																						ENST00000379119.2																			2	Deletion - Frameshift(2)	p.W114fs*2(2)	ovary(1)|large_intestine(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(334-336)ttfs		B-cell receptor-associated protein 29							49.0	54.0	52.0					7																	107234540		2203	4300	6503	SO:0001589	frameshift_variant	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107234540delT		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.334delT	7.37:g.107234540delT	ENSP00000005259:p.Phe113fs					BCAP29_ENST00000465919.1_Frame_Shift_Del_p.F19fs|BCAP29_ENST00000005259.4_Frame_Shift_Del_p.F113fs|BCAP29_ENST00000379121.2_Frame_Shift_Del_p.F19fs|BCAP29_ENST00000379117.2_Frame_Shift_Del_p.F113fs|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Frame_Shift_Del_p.F113fs	p.F113fs	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN			3	348	+			113					G5E9L4|O95003	Frame_Shift_Del	DEL	ENST00000005259.4	37	c.334delT	CCDS34731.1																																																																																				0.328	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		17	26						17	26	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128255832	128255833	+	RNA	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:128255832_128255833insT	ENST00000605862.1	+	0	758																											TATAGAAATGATTTTTTTTTTC	0.282																																						ENST00000605862.1																			0																																																			0							g.chr7:128255832_128255833insT																													7.37:g.128255842_128255842dupT														0	758	+									RNA	INS	ENST00000605862.1	37																																																																																						0.282	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			3	5						3	5	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139838977	139838977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:139838977delC	ENST00000397560.2	-	2	305	c.208delG	c.(208-210)gaafs	p.E71fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E71fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		71					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGATGTTCTTCTACTCCAACA	0.363																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(208-210)aafs									139.0	130.0	133.0					7																	139838977		1932	4143	6075	SO:0001589	frameshift_variant	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139838977delC																												ENST00000397560.2:c.208delG	7.37:g.139838977delC	ENSP00000380692:p.Glu71fs					JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.E71fs	p.E71fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			2	305	-	Melanoma(164;0.0142)		71					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	c.208delG	CCDS43658.1																																																																																				0.363	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			38	85						38	85	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156752697	156752698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr7:156752697_156752698insA	ENST00000275820.3	+	4	1476_1477	c.1461_1462insA	c.(1462-1464)aaafs	p.K488fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	488	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCGACATTTTGAAAAAACTGAT	0.391																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(1459-1464)ttaaaafs		nucleolar protein with MIF4G domain 1																																				SO:0001589	frameshift_variant	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156752697_156752698insA	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1467dupA	7.37:g.156752703_156752703dupA	ENSP00000275820:p.Lys488fs					NOM1_ENST00000460332.1_3'UTR	p.LK487fs	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	4	1476_1477	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	487			MIF4G.		Q96I08	Frame_Shift_Ins	INS	ENST00000275820.3	37	c.1461_1462insA	CCDS34787.1																																																																																				0.391	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		24	43						24	43	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611574	42611574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:42611574delA	ENST00000276410.2	-	5	1123	c.768delT	c.(766-768)tttfs	p.F256fs	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.F241fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	256					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACACGGTTAGAAATGAAATAA	0.378																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(766-768)ttfs		cholinergic receptor, nicotinic, alpha 6 (neuronal)							99.0	95.0	96.0					8																	42611574		2203	4300	6503	SO:0001589	frameshift_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611574delA	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.768delT	8.37:g.42611574delA	ENSP00000276410:p.Phe256fs					CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.F241fs	p.F256fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1123	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	256					B2R8V4|B4DQH1	Frame_Shift_Del	DEL	ENST00000276410.2	37	c.768delT	CCDS6135.1																																																																																				0.378	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			20	27						20	27	---	---	---	---
IL7	3574	broad.mit.edu	37	8	79652263	79652264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr8:79652263_79652264insA	ENST00000263851.4	-	3	801_802	c.201_202insT	c.(199-204)tttaaafs	p.K68fs	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Frame_Shift_Ins_p.K68fs|IL7_ENST00000541183.1_Frame_Shift_Ins_p.K17fs	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	68					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						ATATGTCTTTTAAAAAAGTTAA	0.277																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(199-204)ttaaagfs		interleukin 7																																				SO:0001589	frameshift_variant	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79652263_79652264insA	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.202dupT	8.37:g.79652269_79652269dupA	ENSP00000263851:p.Lys68fs					IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Frame_Shift_Ins_p.L16fs|IL7_ENST00000520269.1_Frame_Shift_Ins_p.L67fs	p.L67fs	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			3	801_802	-			67					A0N0L3|Q5FBY5|Q5FBY9	Frame_Shift_Ins	INS	ENST00000263851.4	37	c.201_202insT	CCDS6224.1																																																																																				0.277	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			14	88						14	88	---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32488832	32488833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:32488832_32488833insT	ENST00000379883.2	-	7	1009_1010	c.852_853insA	c.(850-855)aaattcfs	p.F285fs	DDX58_ENST00000379868.1_Frame_Shift_Ins_p.F82fs|DDX58_ENST00000545044.1_Frame_Shift_Ins_p.F82fs|DDX58_ENST00000542096.1_Frame_Shift_Ins_p.F214fs|DDX58_ENST00000379882.1_Frame_Shift_Ins_p.F240fs	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCTTGTGGGAATTTTTTAAGAT	0.327																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(715-720)aatcccfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58																																				SO:0001589	frameshift_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488832_32488833insT	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.853dupA	9.37:g.32488838_32488838dupT	ENSP00000369213:p.Phe285fs					DDX58_ENST00000542096.1_Frame_Shift_Ins_p.NP213fs|DDX58_ENST00000545044.1_Frame_Shift_Ins_p.NP81fs|DDX58_ENST00000379868.1_Frame_Shift_Ins_p.NP81fs|DDX58_ENST00000379883.2_Frame_Shift_Ins_p.NP284fs	p.NP239fs			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	6	874_875	-			284					A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Frame_Shift_Ins	INS	ENST00000379883.2	37	c.717_718insA	CCDS6526.1																																																																																				0.327	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		23	47						23	47	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37304288	37304289	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:37304288_37304289insA	ENST00000336755.5	+	4	864_865	c.758_759insA	c.(757-762)tcaaaafs	p.SK253fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	253						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GGTCATTTATCAAAAAACTGCC	0.431																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(757-759)taafs		zinc finger, CCHC domain containing 7																																				SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37304288_37304289insA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.764dupA	9.37:g.37304294_37304294dupA	ENSP00000337839:p.Ser253fs					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	p.*253fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	4	864_865	+			253					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	ENST00000336755.5	37	c.758_759insA	CCDS6608.2																																																																																				0.431	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		38	69						38	69	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43815972	43815973	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:43815972_43815973insT	ENST00000377564.3	+	5	1119_1120	c.726_727insT	c.(727-729)tttfs	p.F243fs	CNTNAP3B_ENST00000276974.6_Frame_Shift_Ins_p.F243fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	243	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GAAAGCTTGTCTTTTTTCTTAA	0.302																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(724-729)gtttttfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43815972_43815973insT	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.732dupT	9.37:g.43815978_43815978dupT	ENSP00000366787:p.Phe243fs					CNTNAP3B_ENST00000276974.6_Frame_Shift_Ins_p.VF242fs	p.VF242fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			5	1119_1120	+			242			Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Ins	INS	ENST00000377564.3	37	c.726_727insT	CCDS55312.1																																																																																				0.302	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			13	92						13	92	---	---	---	---
PTGR1	22949	broad.mit.edu	37	9	114359602	114359602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:114359602delT	ENST00000407693.2	-	2	363	c.101delA	c.(100-102)aatfs	p.N34fs	PTGR1_ENST00000538962.1_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000309195.5_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000238248.3_De_novo_Start_InFrame	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	34					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CTTACCTCCATTTTTTAAGGG	0.398																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000238248.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11								prostaglandin reductase 1							87.0	82.0	84.0					9																	114359602		2203	4300	6503	SO:0001589	frameshift_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114359602delT	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.101delA	9.37:g.114359602delT	ENSP00000385763:p.Asn34fs					PTGR1_ENST00000309195.5_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.N34fs|PTGR1_ENST00000407693.2_Frame_Shift_Del_p.N34fs				Q14914	PTGR1_HUMAN			0	363	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Translation_Start_Site	DEL	ENST00000407693.2	37		CCDS6779.1																																																																																				0.398	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			20	25						20	25	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121971078	121971078	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:121971078delT	ENST00000265922.3	-	7	1525	c.1064delA	c.(1063-1065)aagfs	p.K355fs	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	355					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCGTTGGATCTTTTGTCTCTG	0.572																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1063-1065)agfs									217.0	181.0	194.0					9																	121971078		2203	4300	6503	SO:0001589	frameshift_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971078delT	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1064delA	9.37:g.121971078delT	ENSP00000265922:p.Lys355fs					DBC1_ENST00000482797.1_5'UTR	p.K355fs	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			7	1525	-			355					Q6IPV6|Q6P1A0|Q8WU22	Frame_Shift_Del	DEL	ENST00000265922.3	37	c.1064delA	CCDS6822.1																																																																																				0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		9	43						9	43	---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130854244	130854244	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:130854244delC	ENST00000373066.5	+	1	502	c.95delC	c.(94-96)accfs	p.T32fs	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Frame_Shift_Del_p.T32fs|RP11-379C10.4_ENST00000453870.1_RNA	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GTCAGAGGCACCCCAGCCCCT	0.577																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(94-96)acfs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							100.0	115.0	110.0					9																	130854244		1940	4135	6075	SO:0001589	frameshift_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854244delC	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.95delC	9.37:g.130854244delC	ENSP00000362157:p.Thr32fs					RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Frame_Shift_Del_p.T32fs|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	p.T32fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	502	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Frame_Shift_Del	DEL	ENST00000373066.5	37	c.95delC	CCDS59146.1																																																																																				0.577	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		30	80						30	80	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140707502	140707502	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr9:140707502delA	ENST00000460843.1	+	20	2939	c.2912delA	c.(2911-2913)gaafs	p.E971fs		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	971					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGAACAAGGAAGGAGAGACG	0.512																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2911-2913)gafs		euchromatic histone-lysine N-methyltransferase 1							76.0	88.0	84.0					9																	140707502		2203	4300	6503	SO:0001589	frameshift_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140707502delA	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2912delA	9.37:g.140707502delA	ENSP00000417980:p.Glu971fs						p.E971fs	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	20	2939	+	all_cancers(76;0.164)		971					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Frame_Shift_Del	DEL	ENST00000460843.1	37	c.2912delA	CCDS7050.2																																																																																				0.512	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		8	130						8	130	---	---	---	---
KIN	22944	broad.mit.edu	37	10	7820854	7820854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:7820854delT	ENST00000379562.4	-	5	552	c.505delA	c.(505-507)actfs	p.T169fs	KIN_ENST00000543003.1_Frame_Shift_Del_p.T63fs|KIN_ENST00000535925.1_Frame_Shift_Del_p.T169fs	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATTTGGCAGTTTTTTCTTCA	0.458																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.(505-507)ctfs		KIN, antigenic determinant of recA protein homolog (mouse)							251.0	248.0	249.0					10																	7820854		2203	4300	6503	SO:0001589	frameshift_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7820854delT	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.505delA	10.37:g.7820854delT	ENSP00000368881:p.Thr169fs					KIN_ENST00000535925.1_Frame_Shift_Del_p.T169fs|KIN_ENST00000543003.1_Frame_Shift_Del_p.T63fs	p.T169fs			O60870	KIN17_HUMAN			5	552	-			169						Frame_Shift_Del	DEL	ENST00000379562.4	37	c.505delA	CCDS7080.1																																																																																				0.458	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		74	130						74	130	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12077380	12077381	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:12077380_12077381insT	ENST00000356352.2	-	1	515_516	c.42_43insA	c.(40-45)aaagacfs	p.D15fs	UPF2_ENST00000397053.2_Frame_Shift_Ins_p.D15fs|UPF2_ENST00000357604.5_Frame_Shift_Ins_p.D15fs|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	15	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D15Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTAAAGAGTCTTTTTCTTCCA	0.455																																						ENST00000356352.2																			1	Substitution - Missense(1)	p.D15Y(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(40-45)aaactcfs		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12077380_12077381insT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.43dupA	10.37:g.12077385_12077385dupT	ENSP00000348708:p.Asp15fs					UPF2_ENST00000397053.2_Frame_Shift_Ins_p.L15fs|UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000357604.5_Frame_Shift_Ins_p.L15fs	p.L15fs			Q9HAU5	RENT2_HUMAN			1	515_516	-		Renal(717;0.228)	15			Glu/Lys-rich.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Ins	INS	ENST00000356352.2	37	c.42_43insA	CCDS7086.1																																																																																				0.455	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			34	80						34	80	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24889778	24889778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:24889778delT	ENST00000396432.2	-	14	3415	c.2929delA	c.(2929-2931)agafs	p.R977fs	ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.R764fs|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	976	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTCTGCTCTCTTTTATCTTTG	0.448																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2929-2931)gafs		Rho GTPase activating protein 21							78.0	80.0	79.0					10																	24889778		2203	4298	6501	SO:0001589	frameshift_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24889778delT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2929delA	10.37:g.24889778delT	ENSP00000379709:p.Arg977fs					ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Frame_Shift_Del_p.R764fs	p.R977fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			14	3415	-			976			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	37	c.2929delA	CCDS7144.2																																																																																				0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	93						9	93	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27329038	27329038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:27329038delT	ENST00000376087.4	-	21	2396	c.2231delA	c.(2230-2232)aatfs	p.N744fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.N760fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.N301fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	743					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCACAGTGATTTTTTTTAAG	0.294																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2230-2232)atfs		ankyrin repeat domain 26							82.0	72.0	75.0					10																	27329038		1796	4060	5856	SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27329038delT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2231delA	10.37:g.27329038delT	ENSP00000365255:p.Asn744fs					ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.N760fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.N301fs	p.N744fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			21	2396	-			743					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Del	DEL	ENST00000376087.4	37	c.2231delA	CCDS41499.1																																																																																				0.294	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			24	24						24	24	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70332152	70332153	+	Frame_Shift_Ins	INS	-	-	A	rs77014514		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:70332152_70332153insA	ENST00000373644.4	+	2	266_267	c.57_58insA	c.(58-60)aaafs	p.K20fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	20					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAGATGTAAACAAAAAAAAGAA	0.416																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(55-60)aaaaaafs		tet methylcytosine dioxygenase 1																																				SO:0001589	frameshift_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332152_70332153insA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.65dupA	10.37:g.70332160_70332160dupA	ENSP00000362748:p.Lys20fs						p.KK19fs	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	266_267	+			19					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Ins	INS	ENST00000373644.4	37	c.57_58insA	CCDS7281.1																																																																																				0.416	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		13	18						13	18	---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99019159	99019160	+	Splice_Site	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99019159_99019160insT	ENST00000358531.4	-	5	867_868	c.839_840insA	c.(838-840)aat>aaAt	p.N280fs	ARHGAP19_ENST00000371027.1_Splice_Site_p.N271fs|ARHGAP19_ENST00000487035.1_5'Flank|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.N280fs|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.N280fs|ARHGAP19-SLIT1_ENST00000453547.2_Splice_Site_p.N280fs|ARHGAP19_ENST00000355366.5_Splice_Site_p.N271fs	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	280	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAACACTCACATTTTTTGGCCA	0.45																																						ENST00000453547.2																			0											c.e5+1																																						SO:0001630	splice_region_variant	0							g.chr10:99019159_99019160insT	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.840+1->A	10.37:g.99019165_99019165dupT						ARHGAP19_ENST00000371027.1_Splice_Site_p.S271_splice|ARHGAP19_ENST00000358531.4_Splice_Site_p.S280_splice|ARHGAP19-SLIT1_ENST00000358308.3_Splice_Site_p.S280_splice|ARHGAP19-SLIT1_ENST00000316676.8_Splice_Site_p.S280_splice|ARHGAP19_ENST00000355366.5_Splice_Site_p.S271_splice	p.S280_splice							5	838_839	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Splice_Site	INS	ENST00000358531.4	37	c.840_splice	CCDS7454.2																																																																																				0.450	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	Frame_Shift_Ins	28	72						28	72	---	---	---	---
R3HCC1L	27291	broad.mit.edu	37	10	99969296	99969296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:99969296delA	ENST00000298999.3	+	5	1728	c.1425delA	c.(1423-1425)atafs	p.I475fs	R3HCC1L_ENST00000370584.3_Frame_Shift_Del_p.I475fs|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	475							nucleotide binding (GO:0000166)										CCTTACCTATAAAAAAGATTG	0.378																																						ENST00000298999.3																			0											c.(1423-1425)atfs		R3H domain and coiled-coil containing 1-like							56.0	57.0	57.0					10																	99969296		2203	4300	6503	SO:0001589	frameshift_variant	27291							g.chr10:99969296delA	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1425delA	10.37:g.99969296delA	ENSP00000298999:p.Ile475fs					R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Frame_Shift_Del_p.I475fs|R3HCC1L_ENST00000370586.2_Intron	p.I475fs	NM_014472.4	NP_055287.4					5	1728	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Frame_Shift_Del	DEL	ENST00000298999.3	37	c.1425delA	CCDS31267.1																																																																																				0.378	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		16	44						16	44	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118100254	118100255	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr10:118100254_118100255insT	ENST00000333254.3	+	4	425_426	c.174_175insT	c.(175-177)tttfs	p.F59fs	CCDC172_ENST00000497093.1_Intron	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	59																	AGGTTCAACAGTTTTTTGAAAA	0.287																																						ENST00000333254.3																			0											c.(172-177)cattttfs		coiled-coil domain containing 172																																				SO:0001589	frameshift_variant	374355							g.chr10:118100254_118100255insT	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.180dupT	10.37:g.118100260_118100260dupT	ENSP00000329860:p.Phe59fs					CCDC172_ENST00000497093.1_Intron	p.HF58fs	NM_198515.2	NP_940917.1					4	425_426	+									Frame_Shift_Ins	INS	ENST00000333254.3	37	c.174_175insT	CCDS31291.1																																																																																				0.287	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		33	65						33	65	---	---	---	---
TMEM41B	440026	broad.mit.edu	37	11	9304992	9304992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:9304992delT	ENST00000528080.1	-	7	1193	c.855delA	c.(853-855)aaafs	p.K285fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	285					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TCTGCTTTAGTTTTTTTTGGA	0.338																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(853-855)aafs		transmembrane protein 41B							52.0	55.0	54.0					11																	9304992		2201	4296	6497	SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9304992delT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.855delA	11.37:g.9304992delT	ENSP00000433126:p.Lys285fs						p.K285fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1193	-			285					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Del	DEL	ENST00000528080.1	37	c.855delA	CCDS31424.1																																																																																				0.338	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			8	30						8	30	---	---	---	---
PRG3	10394	broad.mit.edu	37	11	57147265	57147266	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr11:57147265_57147266insG	ENST00000287143.2	-	3	185_186	c.76_77insC	c.(76-78)catfs	p.H26fs		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCTCCAGATGGGGGGCATCA	0.554																																					Melanoma(154;1456 2519 19358 45229)	ENST00000287143.2																			0				large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(76-78)tctfs		proteoglycan 3																																				SO:0001589	frameshift_variant	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57147265_57147266insG	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.77dupC	11.37:g.57147271_57147271dupG	ENSP00000287143:p.His26fs						p.S26fs	NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN			3	185_186	-			26					Q5VX23|Q9NXE2	Frame_Shift_Ins	INS	ENST00000287143.2	37	c.76_77insC	CCDS7954.1																																																																																				0.554	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		10	53						10	53	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	443455	443456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:443455_443456insA	ENST00000399788.2	-	11	1803_1804	c.1441_1442insT	c.(1441-1443)tgcfs	p.C481fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.C481fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	481	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGTGCCAGCAAAAAGAAGAG	0.431			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1441-1443)ctgfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:443455_443456insA		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1442dupT	12.37:g.443460_443460dupA	ENSP00000382688:p.Cys481fs					KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.L481fs	p.L481fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			11	1803_1804	-			481			JmjC.		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.1441_1442insT	CCDS41736.1																																																																																				0.431	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		49	81						49	81	---	---	---	---
ALG10B	144245	broad.mit.edu	37	12	38714770	38714771	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:38714770_38714771insT	ENST00000308742.4	+	3	1493_1494	c.1177_1178insT	c.(1177-1179)attfs	p.I393fs	AC117372.1_ENST00000401168.2_RNA|ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	393					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATCAAAGCCAATTTTTTGGAAT	0.307																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1177-1179)tttfs		ALG10B, alpha-1,2-glucosyltransferase																																				SO:0001589	frameshift_variant	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714770_38714771insT	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1183dupT	12.37:g.38714776_38714776dupT	ENSP00000310120:p.Ile393fs					ALG10B_ENST00000551464.1_Intron	p.F393fs	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN			3	1493_1494	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	393					B2RPF4	Frame_Shift_Ins	INS	ENST00000308742.4	37	c.1177_1178insT	CCDS31772.1																																																																																				0.307	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		44	78						44	78	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44148474	44148474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:44148474delT	ENST00000416848.2	-	2	1063	c.575delA	c.(574-576)aacfs	p.N192fs	PUS7L_ENST00000344862.5_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000551923.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000553166.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	192					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AATTTCACTGTTTTTTCCTAC	0.333																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(574-576)acfs		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							66.0	66.0	66.0					12																	44148474		2203	4299	6502	SO:0001589	frameshift_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148474delT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.575delA	12.37:g.44148474delT	ENSP00000415899:p.Asn192fs					PUS7L_ENST00000551923.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Frame_Shift_Del_p.N192fs|PUS7L_ENST00000344862.5_Frame_Shift_Del_p.N192fs	p.N192fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1063	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	192					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Frame_Shift_Del	DEL	ENST00000416848.2	37	c.575delA	CCDS8743.1																																																																																				0.333	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		25	62						25	62	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320481	46320482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:46320481_46320482insT	ENST00000369367.3	-	11	3235_3236	c.3002_3003insA	c.(3001-3003)aatfs	p.N1001fs	SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.N686fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1001fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N809fs|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1001					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N1001fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGGATGTCATTTTTTTCTTT	0.386																																						ENST00000465950.1																			1	Insertion - Frameshift(1)	p.N1001fs*2(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2056-2058)agafs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320481_46320482insT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3003dupA	12.37:g.46320488_46320488dupT	ENSP00000358374:p.Asn1001fs					SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.R809fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.R1001fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.R1001fs	p.R686fs			Q99590	SCAFB_HUMAN			1	3266_3267	-			1001					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	37	c.2057_2058insA	CCDS8748.2																																																																																				0.386	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		53	103						53	103	---	---	---	---
RP11-796E2.4	0	broad.mit.edu	37	12	92562666	92562666	+	RNA	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:92562666delA	ENST00000499685.2	+	0	164				RP11-796E2.4_ENST00000501008.2_RNA|Y_RNA_ENST00000363025.1_RNA																							GTAGGTGTTTAAAAAAAAAAA	0.403																																						ENST00000499685.2																			0																																																			0							g.chr12:92562666delA																													12.37:g.92562666delA														0	164	+									RNA	DEL	ENST00000499685.2	37																																																																																						0.403	RP11-796E2.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000407232.1			2	4						2	4	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93195471	93195471	+	Frame_Shift_Del	DEL	T	T	-	rs368982292		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:93195471delT	ENST00000322349.8	-	20	2941	c.2677delA	c.(2677-2679)actfs	p.T893fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	893					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTTTGCAAGTTTTTTCCTTA	0.284																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2677-2679)ctfs		early endosome antigen 1							64.0	63.0	63.0					12																	93195471		2201	4293	6494	SO:0001589	frameshift_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93195471delT	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2677delA	12.37:g.93195471delT	ENSP00000317955:p.Thr893fs						p.T893fs	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			20	2941	-			893					Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	c.2677delA	CCDS31874.1																																																																																				0.284	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		10	16						10	16	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102153878	102153879	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr12:102153878_102153879insT	ENST00000299314.7	-	16	3440_3441	c.3178_3179insA	c.(3178-3180)atgfs	p.M1060fs		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1060					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAGGAAGCATTTTTGAGCAA	0.366																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3178-3180)gctfs		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits																																				SO:0001589	frameshift_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102153878_102153879insT	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3179dupA	12.37:g.102153883_102153883dupT	ENSP00000299314:p.Met1060fs						p.A1060fs	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			16	3440_3441	-			1060					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Ins	INS	ENST00000299314.7	37	c.3178_3179insA	CCDS9088.1																																																																																				0.366	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			21	96						21	96	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426312	20426312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:20426312delT	ENST00000337963.4	-	3	273	c.9delA	c.(7-9)aaafs	p.K3fs	ZMYM5_ENST00000382907.4_Frame_Shift_Del_p.K3fs|ZMYM5_ENST00000382905.4_Frame_Shift_Del_p.K3fs	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	3						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CCACTGAACATTTTTCCATGC	0.368																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(7-9)aafs		zinc finger, MYM-type 5							157.0	163.0	161.0					13																	20426312		2203	4300	6503	SO:0001589	frameshift_variant	9205					nucleus	zinc ion binding	g.chr13:20426312delT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.9delA	13.37:g.20426312delT	ENSP00000337034:p.Lys3fs					ZMYM5_ENST00000382907.4_Frame_Shift_Del_p.K3fs|ZMYM5_ENST00000382905.4_Frame_Shift_Del_p.K3fs	p.K3fs	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	273	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	3					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Frame_Shift_Del	DEL	ENST00000337963.4	37	c.9delA																																																																																					0.368	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	261						8	261	---	---	---	---
SLC46A3	283537	broad.mit.edu	37	13	29287060	29287061	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:29287060_29287061insA	ENST00000266943.6	-	3	1185_1186	c.816_817insT	c.(814-819)tttgtgfs	p.V273fs	SLC46A3_ENST00000380814.4_Frame_Shift_Ins_p.V273fs	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	273					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCAATTACCACAAAAAAATAAG	0.342																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(814-819)tttggtfs		solute carrier family 46, member 3																																				SO:0001589	frameshift_variant	283537				transmembrane transport	integral to membrane		g.chr13:29287060_29287061insA		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.817dupT	13.37:g.29287067_29287067dupA	ENSP00000266943:p.Val273fs					SLC46A3_ENST00000380814.4_Frame_Shift_Ins_p.G273fs	p.G273fs	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	3	1185_1186	-		Lung SC(185;0.0367)	273					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Frame_Shift_Ins	INS	ENST00000266943.6	37	c.816_817insT	CCDS9332.1																																																																																				0.342	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		16	23						16	23	---	---	---	---
USPL1	10208	broad.mit.edu	37	13	31205109	31205110	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:31205109_31205110insA	ENST00000255304.4	+	4	708_709	c.366_367insA	c.(367-369)aaafs	p.K123fs	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	123					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TAGCAAATTCCAAAAAGACTAG	0.356																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(364-369)tcaaaafs		ubiquitin specific peptidase like 1																																				SO:0001589	frameshift_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205109_31205110insA	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.371dupA	13.37:g.31205114_31205114dupA	ENSP00000255304:p.Lys123fs					USPL1_ENST00000465952.1_3'UTR	p.SK122fs	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	708_709	+		Lung SC(185;0.0257)|Breast(139;0.203)	122					Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Ins	INS	ENST00000255304.4	37	c.366_367insA	CCDS9336.1																																																																																				0.356	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		18	36						18	36	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344887	33344888	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:33344887_33344888insA	ENST00000315596.10	+	33	4346_4347	c.4160_4161insA	c.(4159-4164)ccaaaafs	p.PK1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCATCACAACCAAAAAAAAATG	0.337																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(4159-4161)caafs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344887_33344888insA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4169dupA	13.37:g.33344896_33344896dupA	ENSP00000313851:p.Pro1387fs						p.Q1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	33	4346_4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Ins	INS	ENST00000315596.10	37	c.4160_4161insA	CCDS41878.1																																																																																				0.337	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		4	7						4	7	---	---	---	---
PTMAP5	150928	broad.mit.edu	37	13	82265133	82265134	+	RNA	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:82265133_82265134insT	ENST00000607242.1	+	0	1088_1089									prothymosin, alpha pseudogene 5																		GTTGCTGTTTATTTTTTTTGGC	0.287																																						ENST00000607242.1																			0																																																			0							g.chr13:82265133_82265134insT	S38627		13q13.1	2008-11-06	2008-04-03		ENSG00000214182	ENSG00000214182			9628	pseudogene	pseudogene	"""gene sequence 150"""		"""prothymosin, alpha pseudogene 5 (gene sequence 150)"""			1612591	Standard	NG_004798		Approved				OTTHUMG00000017147		13.37:g.82265141_82265141dupT														0	1088_1089	+									RNA	INS	ENST00000607242.1	37																																																																																						0.287	PTMAP5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470311.1			5	5						5	5	---	---	---	---
UPF3A	65110	broad.mit.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(790-792)aafs		UPF3 regulator of nonsense transcripts homolog A (yeast)			,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	SO:0001589	frameshift_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115057211delA	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs					UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs	p.K266fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	7	846	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	266					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	ENST00000375299.3	37	c.790delA	CCDS9543.1																																																																																				0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			22	35						22	35	---	---	---	---
TRAV34	28648	broad.mit.edu	37	14	22675596	22675596	+	RNA	DEL	A	A	-	rs377595558	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:22675596delA	ENST00000390461.2	+	0	64									T cell receptor alpha variable 34																		ATGTGTTGGGAAAAAAAATGA	0.463																																						ENST00000390461.2																			0																																																			0							g.chr14:22675596delA	AE000660		14q11.2	2012-02-07			ENSG00000211813	ENSG00000211813		"""T cell receptors / TRA locus"""	12133	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV26S1, TCRAV34S1			OTTHUMG00000170664		14.37:g.22675596delA														0	64	+									RNA	DEL	ENST00000390461.2	37																																																																																						0.463	TRAV34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409912.1	NG_001332		3	6						3	6	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902725	32902725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:32902725delC	ENST00000280979.4	+	2	196	c.26delC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000557272.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGACACTTTCCCCCCTGAGG	0.507																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)tcfs		A kinase (PRKA) anchor protein 6							90.0	81.0	84.0					14																	32902725		2203	4300	6503	SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902725delC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.26delC	14.37:g.32902725delC	ENSP00000280979:p.Ser9fs					AKAP6_ENST00000557272.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000557354.1_Frame_Shift_Del_p.S9fs|AKAP6_ENST00000554449.1_3'UTR	p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	ENST00000280979.4	37	c.26delC	CCDS9644.1																																																																																				0.507	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		23	29						23	29	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45675289	45675289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:45675289delT	ENST00000310806.4	-	15	3695	c.3237delA	c.(3235-3237)aaafs	p.K1079fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1079					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TACTTACTAATTTTTTCTTGA	0.308																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(3235-3237)aafs		MIS18 binding protein 1							59.0	58.0	58.0					14																	45675289		2198	4291	6489	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45675289delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3237delA	14.37:g.45675289delT	ENSP00000309790:p.Lys1079fs						p.K1079fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			15	3695	-			1079					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.3237delA	CCDS9684.1																																																																																				0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			13	24						13	24	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58831137	58831137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:58831137delA	ENST00000355431.3	+	20	2703	c.2330delA	c.(2329-2331)gaafs	p.E777fs	ARID4A_ENST00000348476.3_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.E777fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	777					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACAAAATGGAAAAAACAGAA	0.323																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2329-2331)gafs		AT rich interactive domain 4A (RBP1-like)							39.0	44.0	42.0					14																	58831137		2201	4288	6489	SO:0001589	frameshift_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831137delA	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2330delA	14.37:g.58831137delA	ENSP00000347602:p.Glu777fs					ARID4A_ENST00000348476.3_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.E777fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.E777fs	p.E777fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2703	+			777					Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	37	c.2330delA	CCDS9732.1																																																																																				0.323	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		25	63						25	63	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64496757	64496758	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64496757_64496758insA	ENST00000344113.4	+	44	7071_7072	c.6859_6860insA	c.(6859-6861)gaafs	p.E2287fs	SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.E2287fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.E2287fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2287					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCGGTTGAGGAAAAATTGCAG	0.371																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6859-6861)aaafs		spectrin repeat containing, nuclear envelope 2																																				SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496757_64496758insA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6864dupA	14.37:g.64496762_64496762dupA	ENSP00000341781:p.Glu2287fs					SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.K2287fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.K2287fs	p.K2287fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7089_7090	+			2287					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	c.6859_6860insA	CCDS41963.1																																																																																				0.371	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	48						8	48	---	---	---	---
AKAP5	9495	broad.mit.edu	37	14	64936178	64936178	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:64936178delA	ENST00000394718.4	+	2	1444	c.1066delA	c.(1066-1068)aaafs	p.K356fs	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Frame_Shift_Del_p.K356fs|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	356					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TACAAAATCTAAAAATGTCCC	0.323																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1066-1068)aafs		A kinase (PRKA) anchor protein 5							91.0	104.0	100.0					14																	64936178		2203	4299	6502	SO:0001589	frameshift_variant	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936178delA	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1066delA	14.37:g.64936178delA	ENSP00000378207:p.Lys356fs					AKAP5_ENST00000394718.3_Frame_Shift_Del_p.K356fs|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	p.K356fs			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2354	+			356					A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	c.1066delA	CCDS9764.1																																																																																				0.323	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			53	80						53	80	---	---	---	---
RP11-643G16.4	0	broad.mit.edu	37	14	68082888	68082888	+	RNA	DEL	A	A	-	rs375963361	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr14:68082888delA	ENST00000559968.1	+	0	1243				Y_RNA_ENST00000364659.1_RNA																							TTTTAAAGACAAAAAAAATTT	0.328													|||unknown(LONG_INSERTION)	4	0.000798722	0.0015	0.0	5008	,	,		17595	0.0		0.001	False		,,,				2504	0.001					ENST00000559968.1																			0																																																			0							g.chr14:68082888delA																													14.37:g.68082888delA														0	1243	+									RNA	DEL	ENST00000559968.1	37																																																																																						0.328	RP11-643G16.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417022.1			14	63						14	63	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25351683	25351684	+	RNA	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:25351683_25351684insA	ENST00000546682.1	+	0	3911				SNORD116-30_ENST00000516468.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGATGACTTAAAAAAATGGA	0.47																																						ENST00000546682.1																			0																	0,2388		0,0,1194						-4.7	0.0			83	1,4649		0,1,2324	no	intergenic				0,1,3518	A1A1,A1R,RR		0.0215,0.0,0.0142				1,7037						0							g.chr15:25351683_25351684insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25351690_25351690dupA						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA		NR_003361.1						0	3911	+									RNA	INS	ENST00000546682.1	37																																																																																						0.470	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			14	42						14	42	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63970404	63970405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:63970404_63970405insT	ENST00000443617.2	-	37	6796_6797	c.6709_6710insA	c.(6709-6711)atgfs	p.M2237fs	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2237					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTTTCCATCATTTTTTTGTTA	0.426																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6709-6711)gatfs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970404_63970405insT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6710dupA	15.37:g.63970411_63970411dupT	ENSP00000390158:p.Met2237fs					RP11-317G6.1_ENST00000559303.2_RNA	p.D2237fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	6796_6797	-			2237					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.6709_6710insA	CCDS45277.1																																																																																				0.426	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	17						10	17	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575034	82575034	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr15:82575034delT	ENST00000339465.5	+	3	897	c.828delT	c.(826-828)aatfs	p.N276fs	FAM154B_ENST00000427381.2_Frame_Shift_Del_p.N261fs|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	276										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAAGTAACAATTTTCCTTTCC	0.413																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(826-828)aafs		family with sequence similarity 154, member B							72.0	71.0	71.0					15																	82575034		2203	4300	6503	SO:0001589	frameshift_variant	283726							g.chr15:82575034delT	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.828delT	15.37:g.82575034delT	ENSP00000340445:p.Asn276fs					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.N261fs	p.N276fs	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	897	+			276					B4E2M2	Frame_Shift_Del	DEL	ENST00000339465.5	37	c.828delT	CCDS32310.1																																																																																				0.413	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		25	58						25	58	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			3	4						3	4	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-945)gcggggfs	p.AG314fs	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579																																						ENST00000268485.3																			1	Substitution - Missense(1)	p.A314V(1)	endometrium(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(940-942)gggfs		MARVEL domain containing 3																																				SO:0001589	frameshift_variant	91862					integral to membrane		g.chr16:71668441_71668442insG	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.948dupG	16.37:g.71668448_71668448dupG	ENSP00000268485:p.Ala314fs					MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron	p.G314fs	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	985_986	+		Ovarian(137;0.125)	314			MARVEL.		A8K820|H3BQM5|Q96MJ4	Frame_Shift_Ins	INS	ENST00000268485.3	37	c.941_942insG	CCDS10904.1																																																																																				0.579	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		7	30						7	30	---	---	---	---
ABR	29	broad.mit.edu	37	17	1028642	1028642	+	Frame_Shift_Del	DEL	G	G	-	rs573239507		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:1028642delG	ENST00000302538.5	-	2	268	c.122delC	c.(121-123)ccgfs	p.P41fs	ABR_ENST00000574437.1_5'UTR|ABR_ENST00000544583.2_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	41					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P41fs*51(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGAGCCCTCCGGGGGCCCCTT	0.642																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000302538.5																			1	Deletion - Frameshift(1)	p.P41fs*51(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(121-123)cgfs		active BCR-related							123.0	112.0	116.0					17																	1028642		2203	4300	6503	SO:0001589	frameshift_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028642delG	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.122delC	17.37:g.1028642delG	ENSP00000303909:p.Pro41fs					ABR_ENST00000544583.2_5'UTR|ABR_ENST00000574437.1_5'UTR	p.P41fs	NM_021962.3	NP_068781.2	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	268	-			41					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Del	DEL	ENST00000302538.5	37	c.122delC	CCDS10999.1																																																																																				0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			32	71						32	71	---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21825597	21825597	+	lincRNA	DEL	C	C	-	rs375725314		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:21825597delC	ENST00000426869.3	+	0	278					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aaaagtcgtgcccccgtgatc	0.627																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							30.0	36.0	34.0					17																	21825597		2047	4190	6237			284123							g.chr17:21825597delC	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825597delC								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	278	+									RNA	DEL	ENST00000426869.3	37																																																																																						0.627	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		7	27						7	27	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37431355	37431356	+	Splice_Site	INS	-	-	A	rs34511351		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:37431355_37431356insA	ENST00000264658.6	-	10	957		c.e10-2		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TGTGATTTGCTAAAAAACAAGA	0.356																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.e10-2		F-box and leucine-rich repeat protein 20																																				SO:0001630	splice_region_variant	84961					cytoplasm		g.chr17:37431355_37431356insA	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.697-2->T	17.37:g.37431361_37431361dupA						FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site		NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	957	-								A8K729|Q38J52	Splice_Site	INS	ENST00000264658.6	37		CCDS32640.1																																																																																				0.356	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	Intron	16	25						16	25	---	---	---	---
TTLL6	284076	broad.mit.edu	37	17	46862492	46862493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:46862492_46862493insT	ENST00000393382.3	-	13	1973_1974	c.1832_1833insA	c.(1831-1833)aatfs	p.N611fs	TTLL6_ENST00000433608.2_Frame_Shift_Ins_p.N304fs	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTCTGTTTCATTTTTCCTTTC	0.52																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1831-1833)agafs		tubulin tyrosine ligase-like family, member 6																																				SO:0001589	frameshift_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862492_46862493insT	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1833dupA	17.37:g.46862497_46862497dupT	ENSP00000377043:p.Asn611fs					TTLL6_ENST00000433608.2_Frame_Shift_Ins_p.R304fs	p.R611fs	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			13	1973_1974	-			563						Frame_Shift_Ins	INS	ENST00000393382.3	37	c.1832_1833insA	CCDS45724.1																																																																																				0.520	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		30	36						30	36	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61892959	61892959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:61892959delA	ENST00000578681.1	+	17	2540	c.1939delA	c.(1939-1941)aaafs	p.K647fs	DDX42_ENST00000583590.1_Frame_Shift_Del_p.K647fs|DDX42_ENST00000359353.5_Frame_Shift_Del_p.K528fs|DDX42_ENST00000457800.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000389924.2_Frame_Shift_Del_p.K647fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	647					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAAAGGAGGGAAAGGAAAAAA	0.483																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1939-1941)aafs		DEAD (Asp-Glu-Ala-Asp) box helicase 42							121.0	117.0	118.0					17																	61892959		2203	4300	6503	SO:0001589	frameshift_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61892959delA	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1939delA	17.37:g.61892959delA	ENSP00000464050:p.Lys647fs					DDX42_ENST00000583590.1_Frame_Shift_Del_p.K647fs|DDX42_ENST00000457800.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000389924.2_Frame_Shift_Del_p.K647fs|DDX42_ENST00000359353.5_Frame_Shift_Del_p.K528fs	p.K647fs	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			17	2540	+			647					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	c.1939delA	CCDS32704.1																																																																																				0.483	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	56						7	56	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73493881	73493881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr17:73493881delC	ENST00000314256.7	+	27	3821	c.3427delC	c.(3427-3429)cccfs	p.P1144fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.P795fs|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.P1154fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1144						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGGGAAGCCCCCCCATAG	0.517																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3427-3429)ccfs		KIAA0195							89.0	76.0	81.0					17																	73493881		2203	4300	6503	SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73493881delC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3427delC	17.37:g.73493881delC	ENSP00000313885:p.Pro1144fs					KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.P1154fs|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.P795fs	p.P1144fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3821	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1144					O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	c.3427delC	CCDS32732.1																																																																																				0.517	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		19	90						19	90	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29488331	29488331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:29488331delT	ENST00000283351.4	-	8	1508	c.1173delA	c.(1171-1173)aaafs	p.K391fs	TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.K391fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.K337fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	391					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACTAAACCATTTTTTAGTTG	0.299																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1171-1173)aafs		trafficking protein particle complex 8							86.0	86.0	86.0					18																	29488331		2202	4298	6500	SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488331delT	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1173delA	18.37:g.29488331delT	ENSP00000283351:p.Lys391fs					TRAPPC8_ENST00000582513.1_Frame_Shift_Del_p.K391fs|TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.K337fs	p.K391fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			8	1508	-			391					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	c.1173delA	CCDS11901.1																																																																																				0.299	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		16	37						16	37	---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43685173	43685174	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:43685173_43685174insA	ENST00000282058.6	+	2	124_125	c.44_45insA	c.(43-48)ttaaaafs	p.LK15fs	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Frame_Shift_Ins_p.LK15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	15					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTGCGTGGTTAAAAAAAATAT	0.391																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(43-45)taafs		HAUS augmin-like complex, subunit 1																																				SO:0001589	frameshift_variant	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685173_43685174insA	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.52dupA	18.37:g.43685181_43685181dupA	ENSP00000282058:p.Leu15fs					HAUS1_ENST00000585518.1_Frame_Shift_Ins_p.*15fs	p.*15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	124_125	+			15					B2RDM7|Q8N837	Frame_Shift_Ins	INS	ENST00000282058.6	37	c.44_45insA	CCDS11928.1																																																																																				0.391	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		21	36						21	36	---	---	---	---
DYM	54808	broad.mit.edu	37	18	46784852	46784853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr18:46784852_46784853insT	ENST00000269445.6	-	12	1719_1720	c.1262_1263insA	c.(1261-1263)aatfs	p.N421fs	DYM_ENST00000442713.2_Frame_Shift_Ins_p.N231fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	421					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ACCAAGTAATATTTTTTAGTAT	0.342																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1261-1263)aatfs		dymeclin																																				SO:0001589	frameshift_variant	54808					Golgi apparatus		g.chr18:46784852_46784853insT	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1263dupA	18.37:g.46784858_46784858dupT	ENSP00000269445:p.Asn421fs					DYM_ENST00000442713.2_Frame_Shift_Ins_p.N231fs	p.N421fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			12	1719_1720	-			421					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Frame_Shift_Ins	INS	ENST00000269445.6	37	c.1262_1263insA	CCDS11937.1																																																																																				0.342	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		10	31						10	31	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248531	2248531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:2248531delC	ENST00000221494.5	+	9	1799	c.1381delC	c.(1381-1383)cccfs	p.P462fs	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	462	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCCCCCTCCCCCAACCAA	0.627																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1381-1383)ccfs		splicing factor 3a, subunit 2, 66kDa							15.0	18.0	17.0					19																	2248531		1887	4083	5970	SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248531delC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1381delC	19.37:g.2248531delC	ENSP00000221494:p.Pro462fs						p.P462fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_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)	9	1799	+		Hepatocellular(1079;0.137)	462			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.1381delC	CCDS12084.1																																																																																				0.627	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059156	9059157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:9059156_9059157insT	ENST00000397910.4	-	3	28492_28493	c.28289_28290insA	c.(28288-28290)aacfs	p.N9430fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9432	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAGGGCTGTTTTTTTCCAC	0.51																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28288-28290)aagfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059156_9059157insT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28290dupA	19.37:g.9059163_9059163dupT	ENSP00000381008:p.Asn9430fs						p.K9430fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28492_28493	-			9432			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.28289_28290insA	CCDS54212.1																																																																																				0.510	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		57	68						57	68	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10091514	10091515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:10091514_10091515insC	ENST00000264828.3	-	34	2611_2612	c.2526_2527insG	c.(2524-2529)gggcaafs	p.Q843fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	843	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCACCCGGTTGCCCCCTCTCTC	0.599																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2524-2529)ggaaccfs		collagen, type V, alpha 3																																				SO:0001589	frameshift_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10091514_10091515insC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2527dupG	19.37:g.10091519_10091519dupC	ENSP00000264828:p.Gln843fs						p.T843fs	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		34	2611_2612	-			843			Triple-helical region.		Q9NZQ6	Frame_Shift_Ins	INS	ENST00000264828.3	37	c.2526_2527insG	CCDS12222.1																																																																																				0.599	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	17						9	17	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:12384448delA	ENST00000356109.5	-	5	884	c.766delT	c.(766-768)tggfs	p.W256fs	ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398																																						ENST00000356109.5																			0				ovary(1)	1						c.(766-768)ggfs		zinc finger protein 44							88.0	93.0	92.0					19																	12384448		2203	4300	6503	SO:0001589	frameshift_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384448delA	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.766delT	19.37:g.12384448delA	ENSP00000348419:p.Trp256fs					ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs	p.W256fs	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	884	-		Renal(1328;0.157)	256					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Frame_Shift_Del	DEL	ENST00000356109.5	37	c.766delT	CCDS54223.1																																																																																				0.398	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		42	52						42	52	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21365724	21365725	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:21365724_21365725insA	ENST00000311048.7	+	5	762_763	c.618_619insA	c.(619-621)aaafs	p.K207fs	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	207					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CTTTCAAATGTAAAAAATGTGG	0.292																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(616-621)tgaaaafs		zinc finger protein 431																																				SO:0001589	frameshift_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365724_21365725insA	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.624dupA	19.37:g.21365730_21365730dupA	ENSP00000308578:p.Lys207fs					ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.*K206fs	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	762_763	+			206					A8KAK7|Q8IWC4	Frame_Shift_Ins	INS	ENST00000311048.7	37	c.618_619insA	CCDS32979.1																																																																																				0.292	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		21	49						21	49	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr19:36223002delG	ENST00000222270.7	+	27	5631	c.5631delG	c.(5629-5631)ttgfs	p.L1877fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.L1877fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1877					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.G1881fs*16(1)									GGAGGCCCTTGGGGGGTGTCT	0.672																																						ENST00000222270.7																			1	Deletion - Frameshift(1)	p.G1881fs*16(1)	large_intestine(1)								c.(5629-5631)ttfs									11.0	12.0	12.0					19																	36223002		1860	4086	5946	SO:0001589	frameshift_variant	0							g.chr19:36223002delG	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.5631delG	19.37:g.36223002delG	ENSP00000222270:p.Leu1877fs					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Frame_Shift_Del_p.L1877fs	p.L1877fs	NM_014727.1	NP_055542.1					27	5631	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.5631delG	CCDS46055.1																																																																																				0.672	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	11						9	11	---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32264549	32264549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:32264549delG	ENST00000343380.5	-	7	1442	c.1303delC	c.(1303-1305)ctgfs	p.L435fs	RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000246190.6_5'Flank|NECAB3_ENST00000375238.4_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	435	Transactivation.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAAATCCAGGGGGGTGAGG	0.642																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1303-1305)tgfs		E2F transcription factor 1							22.0	19.0	20.0					20																	32264549		2201	4300	6501	SO:0001589	frameshift_variant	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32264549delG		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.1303delC	20.37:g.32264549delG	ENSP00000345571:p.Leu435fs						p.L435fs	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			7	1442	-			435			Transactivation.		Q13143|Q92768	Frame_Shift_Del	DEL	ENST00000343380.5	37	c.1303delC	CCDS13224.1																																																																																				0.642	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			5	4						5	4	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47872451	47872451	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:47872451delT	ENST00000396105.1	-	9	2944	c.2698delA	c.(2698-2700)agafs	p.R900fs	ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.R900fs|ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.R900fs	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	900							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTTCACTCTTTTTTTCATT	0.517																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2698-2700)gafs		zinc finger, NFX1-type containing 1							131.0	100.0	110.0					20																	47872451		2203	4300	6503	SO:0001589	frameshift_variant	57169						metal ion binding	g.chr20:47872451delT	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2698delA	20.37:g.47872451delT	ENSP00000379412:p.Arg900fs					ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.R900fs|ZNFX1_ENST00000371754.4_Frame_Shift_Del_p.R900fs	p.R900fs	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		9	2944	-			900					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Frame_Shift_Del	DEL	ENST00000396105.1	37	c.2698delA	CCDS13417.1																																																																																				0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		15	31						15	31	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735727	56735727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr20:56735727delC	ENST00000371168.3	+	4	324	c.263delC	c.(262-264)tccfs	p.S88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GTCTTTCCATCCCCCCCAGTC	0.582																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(262-264)tcfs		chromosome 20 open reading frame 85							45.0	43.0	43.0					20																	56735727		2203	4300	6503	SO:0001589	frameshift_variant	128602							g.chr20:56735727delC	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.263delC	20.37:g.56735727delC	ENSP00000360210:p.Ser88fs						p.S88fs	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	324	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		88						Frame_Shift_Del	DEL	ENST00000371168.3	37	c.263delC	CCDS13465.1																																																																																				0.582	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		10	9						10	9	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40582837	40582837	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr21:40582837delT	ENST00000333229.2	-	35	4246	c.3919delA	c.(3919-3921)agcfs	p.S1307fs	BRWD1_ENST00000342449.3_Frame_Shift_Del_p.S1307fs|BRWD1_ENST00000380800.3_Frame_Shift_Del_p.S1307fs	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1307					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCTCTGATGCTTTTTTTCCCA	0.348																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3919-3921)gcfs		bromodomain and WD repeat domain containing 1							90.0	84.0	86.0					21																	40582837		2203	4300	6503	SO:0001589	frameshift_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582837delT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3919delA	21.37:g.40582837delT	ENSP00000330753:p.Ser1307fs					BRWD1_ENST00000380800.3_Frame_Shift_Del_p.S1307fs|BRWD1_ENST00000333229.2_Frame_Shift_Del_p.S1307fs	p.S1307fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			35	3997	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1307					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	ENST00000333229.2	37	c.3919delA	CCDS13662.1																																																																																				0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		11	21						11	21	---	---	---	---
IGLJ5	28829	broad.mit.edu	37	22	23256417	23256417	+	RNA	DEL	T	T	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:23256417delT	ENST00000390327.2	+	0	10									immunoglobulin lambda joining 5 (non-functional)																		CCAGAGAGGGTTTTTGTATGA	0.597																																						ENST00000390327.2																			0																				119.0	118.0	118.0					22																	23256417		1964	4157	6121			0							g.chr22:23256417delT	X51755		22q11.2	2012-02-08	2008-09-15		ENSG00000211681	ENSG00000211681		"""Immunoglobulins / IGL locus"""	5867	other	immunoglobulin gene			"""immunoglobulin lambda joining 5"""				Standard	NG_000002		Approved				OTTHUMG00000151170		22.37:g.23256417delT														0	10	+									RNA	DEL	ENST00000390327.2	37																																																																																						0.597	IGLJ5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000321640.1	NG_000002		18	38						18	38	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31672776	31672777	+	Intron	INS	-	-	C	rs540206607	byFrequency	TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:31672776_31672777insC	ENST00000331728.4	+	15	1886				LIMK2_ENST00000406516.1_Splice_Site_p.A514fs|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000340552.4_Splice_Site_p.A571fs|LIMK2_ENST00000333611.4_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TACTTTCAGAGCCCCCCCCGGG	0.733													?|CCCCCCCC|CCCCCCCCC|unsure	14	0.00279553	0.0023	0.0	5008	,	,		7875	0.006		0.002	False		,,,				2504	0.0031					ENST00000340552.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.e15-1		LIM domain kinase 2																																				SO:0001627	intron_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31672776_31672777insC	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1772+1482->C	22.37:g.31672784_31672784dupC						LIMK2_ENST00000406516.1_Splice_Site_p.P514_splice|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000331728.4_Intron	p.P571_splice	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN			15	1941_1942	+			0			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Splice_Site	INS	ENST00000331728.4	37	c.1709_splice	CCDS13891.1																																																																																				0.733	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		13	5						13	5	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43930616	43930617	+	Frame_Shift_Ins	INS	-	-	T	rs375058836		TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chr22:43930616_43930617insT	ENST00000262726.7	-	30	4437_4438	c.4184_4185insA	c.(4183-4185)aagfs	p.K1395fs	EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Frame_Shift_Ins_p.K1243fs|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1395	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGAGCTTTCCTTTGCTTTTAG	0.475																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(4183-4185)agafs		EF-hand calcium binding domain 6																																				SO:0001589	frameshift_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930616_43930617insT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4185dupA	22.37:g.43930619_43930619dupT	ENSP00000262726:p.Lys1395fs					EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Frame_Shift_Ins_p.R1243fs	p.R1395fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			30	4437_4438	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1395			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Ins	INS	ENST00000262726.7	37	c.4184_4185insA	CCDS14049.1																																																																																				0.475	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		32	52						32	52	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030586	47030588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:47030586_47030588delGAG	ENST00000377604.3	+	4	1103_1105	c.361_363delGAG	c.(361-363)gagdel	p.E125del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	125	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ggaggaggatgaggaggaggagg	0.665																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(361-363)del		RNA binding motif protein 10																																				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030586_47030588delGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.361_363delGAG	X.37:g.47030595_47030597delGAG	ENSP00000366829:p.Glu125del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E125del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1103_1105	+			125			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.361_363delGAG	CCDS14274.1																																																																																				0.665	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		2	4						2	4	---	---	---	---
POU3F4	5456	broad.mit.edu	37	X	82764058	82764059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XK-AAIW-01A-11D-A41K-08	TCGA-XK-AAIW-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f8f11c1-ad41-4a60-9cd0-6df43a1c0ceb	8691e950-9a7a-48e2-aa6b-63e4efc353a5	g.chrX:82764058_82764059insA	ENST00000373200.2	+	1	790_791	c.726_727insA	c.(727-729)aaafs	p.K243fs	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	243	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCTGAGCTTCAAAAATATGTG	0.584																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(724-729)ttaaaafs		POU class 3 homeobox 4																																				SO:0001589	frameshift_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764058_82764059insA	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.731dupA	X.37:g.82764063_82764063dupA	ENSP00000362296:p.Lys243fs					RP3-326L13.2_ENST00000607095.1_RNA	p.LK242fs	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	790_791	+			242			POU-specific.		B2RC71|Q5H9G9|Q99410	Frame_Shift_Ins	INS	ENST00000373200.2	37	c.726_727insA	CCDS14450.1																																																																																				0.584	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		13	6						13	6	---	---	---	---
